diff --git a/components/mondo-tags.owl b/components/mondo-tags.owl index cafad2fd83..5df398f686 100644 --- a/components/mondo-tags.owl +++ b/components/mondo-tags.owl @@ -11998,14 +11998,6 @@ - - - - - - - - @@ -13986,14 +13978,6 @@ - - - - - - - - @@ -21130,14 +21114,6 @@ - - - - - - - - diff --git a/imports/equivalencies.json b/imports/equivalencies.json index 0b785922cd..685be0577b 100644 --- a/imports/equivalencies.json +++ b/imports/equivalencies.json @@ -13,10 +13,10 @@ }, "equivalentNodesSets" : [ { "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0000989", "http://purl.obolibrary.org/obo/MONDO_0007216" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0045045", "http://purl.obolibrary.org/obo/NCIT_C27142" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0013560", "http://www.orpha.net/ORDO/Orphanet_231537" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0045045", "http://purl.obolibrary.org/obo/NCIT_C27142" ] }, { "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_95428", "http://purl.obolibrary.org/obo/MONDO_0012635" ] }, { @@ -35,10 +35,10 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_C535707", "http://purl.obolibrary.org/obo/MONDO_0009558" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0275979", "http://purl.obolibrary.org/obo/MONDO_0040728" ] - }, { - "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C1833268", "http://purl.obolibrary.org/obo/MONDO_0010941" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0008461", "http://purl.obolibrary.org/obo/MESH_C566666" ] + }, { + "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C1833268", "http://purl.obolibrary.org/obo/MONDO_0010941" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0003795", "http://www.ebi.ac.uk/efo/EFO_1000431" ] }, { @@ -131,14 +131,14 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_610338", "http://purl.obolibrary.org/obo/MONDO_0012473" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0100130", "http://purl.obolibrary.org/obo/SCTID_67782005" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0008977", "http://purl.obolibrary.org/obo/DOID_3371" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_720826006", "http://purl.obolibrary.org/obo/MONDO_0012206" ] }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0030935", "http://purl.obolibrary.org/obo/OMIM_619166" ] + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0008977", "http://purl.obolibrary.org/obo/DOID_3371" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C3160739", "http://purl.obolibrary.org/obo/MONDO_0010953" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0030935", "http://purl.obolibrary.org/obo/OMIM_619166" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_722302009", "http://purl.obolibrary.org/obo/MONDO_0017694" ] }, { @@ -161,10 +161,10 @@ "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_207122", "http://purl.obolibrary.org/obo/MONDO_0016157" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C2986550", "http://purl.obolibrary.org/obo/MONDO_0006372" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0017937", "http://www.orpha.net/ORDO/Orphanet_324585" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0042458", "http://linkedlifedata.com/resource/umls/id/C3887668" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0017937", "http://www.orpha.net/ORDO/Orphanet_324585" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0015104", "http://linkedlifedata.com/resource/umls/id/C0162566" ] }, { @@ -203,10 +203,10 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/ICD9_273.1", "http://purl.obolibrary.org/obo/MONDO_0002274" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/NCIT_C34992", "http://purl.obolibrary.org/obo/MONDO_0017361" ] - }, { - "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C4014803", "http://purl.obolibrary.org/obo/MONDO_0014416" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0016215", "http://purl.obolibrary.org/obo/DOID_10970" ] + }, { + "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C4014803", "http://purl.obolibrary.org/obo/MONDO_0014416" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0010699", "http://linkedlifedata.com/resource/umls/id/C1839566" ] }, { @@ -257,8 +257,6 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_723998001", "http://purl.obolibrary.org/obo/MONDO_0009998" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_608980", "http://purl.obolibrary.org/obo/MONDO_0012165" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/ICD10_D86.3", "http://purl.obolibrary.org/obo/MONDO_0006611" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0015378", "http://purl.obolibrary.org/obo/SCTID_707234001" ] }, { @@ -271,10 +269,10 @@ "nodeIds" : [ 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"http://purl.obolibrary.org/obo/MONDO_0009380" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0271865", "http://purl.obolibrary.org/obo/MONDO_0018242" ] + }, { + "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_234", "http://purl.obolibrary.org/obo/MONDO_0009380" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/DOID_13492", "http://purl.obolibrary.org/obo/MONDO_0001729" ] }, { @@ -307,16 +305,16 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007303", "http://purl.obolibrary.org/obo/SCTID_72535009" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0015664", "http://purl.obolibrary.org/obo/GARD_0006757" ] - }, { - "nodeIds" : [ "http://www.ebi.ac.uk/efo/EFO_1001067", "http://purl.obolibrary.org/obo/MONDO_0006873" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_614782", "http://purl.obolibrary.org/obo/MONDO_0013888" ] }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_235555", "http://purl.obolibrary.org/obo/MONDO_0009339" ] + "nodeIds" : [ "http://www.ebi.ac.uk/efo/EFO_1001067", "http://purl.obolibrary.org/obo/MONDO_0006873" ] }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007948", "http://purl.obolibrary.org/obo/MESH_C531742" ] + "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_235555", "http://purl.obolibrary.org/obo/MONDO_0009339" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0019664", "http://purl.obolibrary.org/obo/SCTID_254051008" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007948", "http://purl.obolibrary.org/obo/MESH_C531742" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011510", "http://purl.obolibrary.org/obo/SCTID_720565000" ] }, { @@ -325,16 +323,14 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_394727000", "http://purl.obolibrary.org/obo/MONDO_0006579" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007442", "http://www.orpha.net/ORDO/Orphanet_166265" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0009607", "http://purl.obolibrary.org/obo/NCIT_C123435" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0000110", "http://www.orpha.net/ORDO/Orphanet_2695" ] }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0010763", "http://purl.obolibrary.org/obo/DOID_0070186" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0017222", "http://www.orpha.net/ORDO/Orphanet_280219" ] + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0009607", "http://purl.obolibrary.org/obo/NCIT_C123435" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0006733", "http://www.ebi.ac.uk/efo/EFO_1001001" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0017222", "http://www.orpha.net/ORDO/Orphanet_280219" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/NCIT_C6503", "http://purl.obolibrary.org/obo/MONDO_0000977" ] }, { @@ -349,10 +345,10 @@ "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C3164279", "http://purl.obolibrary.org/obo/MONDO_0000518" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0008596", "http://purl.obolibrary.org/obo/MONDO_0023693" ] - }, { - "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0860251", "http://purl.obolibrary.org/obo/MONDO_0007720" ] }, { "nodeIds" : [ "http://www.ebi.ac.uk/efo/EFO_1000906", "http://purl.obolibrary.org/obo/MONDO_0006733" ] + }, { + "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0860251", "http://purl.obolibrary.org/obo/MONDO_0007720" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0020743", "http://purl.obolibrary.org/obo/NCIT_C82179" ] }, { @@ -379,14 +375,14 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0002776", "http://purl.obolibrary.org/obo/NCIT_C26972" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_612924", "http://purl.obolibrary.org/obo/MONDO_0013042" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0008193", "http://purl.obolibrary.org/obo/SCTID_43647007" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_702343002", "http://purl.obolibrary.org/obo/MONDO_0012714" ] }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007437", "http://purl.obolibrary.org/obo/GARD_0001806" ] + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0008193", "http://purl.obolibrary.org/obo/SCTID_43647007" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0000242", "http://linkedlifedata.com/resource/umls/id/C2349994" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007437", "http://purl.obolibrary.org/obo/GARD_0001806" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0005802", "http://purl.obolibrary.org/obo/GARD_0002787" ] }, { @@ -397,16 +393,20 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/DOID_0060283", "http://purl.obolibrary.org/obo/MONDO_0019347" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/CN244923", "http://purl.obolibrary.org/obo/MONDO_0060702" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0013294", "http://purl.obolibrary.org/obo/DOID_0110104" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C3150756", "http://purl.obolibrary.org/obo/MONDO_0013292" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0013294", "http://purl.obolibrary.org/obo/DOID_0110104" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0017675", "http://purl.obolibrary.org/obo/SCTID_402773000" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C1862071", "http://purl.obolibrary.org/obo/MONDO_0007234" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/ICD10CM_B50-B64", "http://purl.obolibrary.org/obo/MONDO_0002428" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0009813", "http://purl.obolibrary.org/obo/OMIM_259680" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0002856", "http://purl.obolibrary.org/obo/NCIT_C5839" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/ONCOTREE_PTH", "http://purl.obolibrary.org/obo/MONDO_0021311" ] }, { @@ -417,18 +417,18 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/NCIT_C4254", "http://purl.obolibrary.org/obo/MONDO_0000962" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_703220002", "http://purl.obolibrary.org/obo/MONDO_0007098" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0042964", "http://purl.obolibrary.org/obo/SCTID_91956006" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0008350", "http://purl.obolibrary.org/obo/OMIM_178651" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0042964", "http://purl.obolibrary.org/obo/SCTID_91956006" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_617126", "http://purl.obolibrary.org/obo/MONDO_0014931" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0008670", "http://purl.obolibrary.org/obo/DOID_0110948" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0010333", "http://purl.obolibrary.org/obo/OMIM_300472" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0010550", "http://linkedlifedata.com/resource/umls/id/C1844873" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0010333", "http://purl.obolibrary.org/obo/OMIM_300472" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007130", "http://purl.obolibrary.org/obo/NCIT_C98585" ] }, { @@ -443,10 +443,10 @@ "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/CN203142", "http://purl.obolibrary.org/obo/MONDO_0017399" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0003157", "http://purl.obolibrary.org/obo/SCTID_240161003" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/DOID_0080510", "http://purl.obolibrary.org/obo/MONDO_0007551" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007408", "http://purl.obolibrary.org/obo/OMIM_123557" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/DOID_0080510", "http://purl.obolibrary.org/obo/MONDO_0007551" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/NCIT_C34696", "http://purl.obolibrary.org/obo/MONDO_0021032" ] }, { @@ -465,12 +465,12 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0006640", "http://linkedlifedata.com/resource/umls/id/CN205287" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C1335942", "http://purl.obolibrary.org/obo/MONDO_0003739" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0016965", "http://purl.obolibrary.org/obo/MESH_C538040" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/DOID_9270", "http://purl.obolibrary.org/obo/MONDO_0008753" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0012860", "http://purl.obolibrary.org/obo/OMIM_612304" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0016965", "http://purl.obolibrary.org/obo/MESH_C538040" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0268689", "http://purl.obolibrary.org/obo/MONDO_0020723" ] }, { @@ -481,10 +481,10 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_D013733", "http://purl.obolibrary.org/obo/MONDO_0002329" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_614097", "http://purl.obolibrary.org/obo/MONDO_0013571" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0013772", "http://purl.obolibrary.org/obo/OMIM_614482" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_C537167", "http://purl.obolibrary.org/obo/MONDO_0008189" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0013772", "http://purl.obolibrary.org/obo/OMIM_614482" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0012908", "http://purl.obolibrary.org/obo/OMIM_612446" ] }, { @@ -497,10 +497,10 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_C564620", "http://purl.obolibrary.org/obo/MONDO_0011779" ] }, { "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_653", "http://purl.obolibrary.org/obo/MONDO_0019003" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0006874", "http://linkedlifedata.com/resource/umls/id/C0022354" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/NCIT_C6239", "http://purl.obolibrary.org/obo/MONDO_0006297" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0006874", "http://linkedlifedata.com/resource/umls/id/C0022354" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007411", "http://purl.obolibrary.org/obo/DOID_0070130" ] }, { @@ -509,6 +509,8 @@ "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C1856728", "http://purl.obolibrary.org/obo/MONDO_0009232" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0008558", "http://purl.obolibrary.org/obo/MONDO_0022618" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_D014808", "http://purl.obolibrary.org/obo/MONDO_0100471" ] }, { "nodeIds" : [ 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"http://linkedlifedata.com/resource/umls/id/C1848387" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/ICD10CM_E20.1", "http://purl.obolibrary.org/obo/MONDO_0019992" ] }, { "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_247257", "http://purl.obolibrary.org/obo/MONDO_0016595" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_230330004", "http://purl.obolibrary.org/obo/MONDO_0044871" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_719662000", "http://purl.obolibrary.org/obo/MONDO_0016655" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0005775", "http://purl.obolibrary.org/obo/DOID_2862" ] }, { @@ -593,28 +595,26 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0005976", "http://purl.obolibrary.org/obo/DOID_4166" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0030914", "http://linkedlifedata.com/resource/umls/id/C2931130" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/ICD10_A83.3", 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"nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0008310", "http://purl.obolibrary.org/obo/OMIM_176670" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/DOID_3930", "http://purl.obolibrary.org/obo/MONDO_0002008" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_D016883", "http://purl.obolibrary.org/obo/MONDO_0012819" ] }, { @@ -1537,6 +1529,8 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0015090", "http://linkedlifedata.com/resource/umls/id/CN228910" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0021160", "http://purl.obolibrary.org/obo/SCTID_197848003" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/ICD10CM_B35-B49", "http://purl.obolibrary.org/obo/MONDO_0002041" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C4225158", "http://purl.obolibrary.org/obo/MONDO_0014626" ] }, { @@ -1557,28 +1551,26 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/NCIT_C129026", "http://purl.obolibrary.org/obo/MONDO_0012186" ] }, { 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"http://purl.obolibrary.org/obo/ICD9_078.10" ] + }, { + "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C1384901", "http://purl.obolibrary.org/obo/MONDO_0009060" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0043119", "http://purl.obolibrary.org/obo/MONDO_0010196" ] }, { @@ -16651,6 +16493,8 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0006464", "http://purl.obolibrary.org/obo/MONDO_0010383" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0016304", "http://www.orpha.net/ORDO/Orphanet_216866" ] + }, { + "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0042904", "http://purl.obolibrary.org/obo/MONDO_0004862" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_C536599", "http://purl.obolibrary.org/obo/MONDO_0011401" ] }, { @@ -16669,8 +16513,6 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0012845", "http://purl.obolibrary.org/obo/MONDO_0014609" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0004497", 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"http://purl.obolibrary.org/obo/ICD10CM_H83.0" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011562", "http://linkedlifedata.com/resource/umls/id/C1854182" ] }, { @@ -17580,15 +17414,17 @@ }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/DOID_6996", "http://purl.obolibrary.org/obo/MONDO_0004065" ] }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0008107", "http://purl.obolibrary.org/obo/OMIM_164150" ] + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0024311", "http://purl.obolibrary.org/obo/ICD10CM_C40" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_236380004", "http://purl.obolibrary.org/obo/MONDO_0044781" ] }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_618969", "http://purl.obolibrary.org/obo/MONDO_0033542" ] + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0008107", "http://purl.obolibrary.org/obo/OMIM_164150" ] }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_600092", "http://purl.obolibrary.org/obo/MONDO_0010814" ] + "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_618969", "http://purl.obolibrary.org/obo/MONDO_0033542" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/ICD9CM_356.3", "http://purl.obolibrary.org/obo/MONDO_0009958" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_600092", "http://purl.obolibrary.org/obo/MONDO_0010814" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C1836522", "http://purl.obolibrary.org/obo/MONDO_0012222" ] }, { @@ -17597,22 +17433,22 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_234468009", "http://purl.obolibrary.org/obo/MONDO_0012876" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0060496", "http://purl.obolibrary.org/obo/OMIM_617519" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0016834", "http://purl.obolibrary.org/obo/SCTID_733518000" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0009506", "http://purl.obolibrary.org/obo/SCTID_234587000" ] + }, { + "nodeIds" : [ 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"http://purl.obolibrary.org/obo/NCIT_C8970" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0010001", "http://linkedlifedata.com/resource/umls/id/C1849332" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0016537", "http://purl.obolibrary.org/obo/DOID_0060704" ] }, { @@ -29437,8 +29111,6 @@ "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_2183", "http://purl.obolibrary.org/obo/MONDO_0016346" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0700091", "http://purl.obolibrary.org/obo/NCIT_C3360" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007147", "http://purl.obolibrary.org/obo/ICD10_G47.33" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011176", "http://linkedlifedata.com/resource/umls/id/C1865974" ] }, { @@ -29453,6 +29125,8 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_733112007", "http://purl.obolibrary.org/obo/MONDO_0014271" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0012531", "http://purl.obolibrary.org/obo/SCTID_1073003" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0005281", "http://purl.obolibrary.org/obo/NCIT_C34631" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011453", "http://purl.obolibrary.org/obo/MESH_C565783" ] }, { @@ -29469,12 +29143,12 @@ "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0017097", "http://purl.obolibrary.org/obo/MONDO_0019336" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0000193", "http://purl.obolibrary.org/obo/DOID_0090139" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0004585", "http://purl.obolibrary.org/obo/MONDO_0043187" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C1842534", "http://purl.obolibrary.org/obo/MONDO_0012805" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007810", "http://linkedlifedata.com/resource/umls/id/C0079584" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0004585", 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"http://purl.obolibrary.org/obo/MONDO_0008634" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007160", "http://purl.obolibrary.org/obo/GARD_0005018" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_734026006", "http://purl.obolibrary.org/obo/MONDO_0010649" ] }, { @@ -35575,8 +35187,6 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0015405", "http://linkedlifedata.com/resource/umls/id/C3839265" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/CN203119", "http://purl.obolibrary.org/obo/MONDO_0017388" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0001444", "http://purl.obolibrary.org/obo/ICD10_B57" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_425500", "http://purl.obolibrary.org/obo/MONDO_0010769" ] }, { @@ -35585,10 +35195,10 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0012880", "http://purl.obolibrary.org/obo/MESH_C567220" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/DOID_0050157", 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"nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0019409", "http://purl.obolibrary.org/obo/MESH_C537700" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0009769", "http://purl.obolibrary.org/obo/OMIM_257910" ] }, { "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_217371", "http://purl.obolibrary.org/obo/MONDO_0013111" ] }, { @@ -37057,16 +36643,18 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0000410", "http://purl.obolibrary.org/obo/DOID_0050698" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0010864", "http://purl.obolibrary.org/obo/OMIM_600321" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0018408", "http://linkedlifedata.com/resource/umls/id/C4303092" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_25476006", "http://purl.obolibrary.org/obo/MONDO_0001947" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0018408", "http://linkedlifedata.com/resource/umls/id/C4303092" ] }, { "nodeIds" : [ 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"http://purl.obolibrary.org/obo/DOID_0111504" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0008050", "http://www.orpha.net/ORDO/Orphanet_59135" ] }, { @@ -43883,6 +43385,8 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_618165", "http://purl.obolibrary.org/obo/MONDO_0032573" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0010157", "http://purl.obolibrary.org/obo/MESH_C562658" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/ICD10CM_B36.0", "http://purl.obolibrary.org/obo/MONDO_0005915" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0016785", "http://purl.obolibrary.org/obo/SCTID_237249000" ] }, { @@ -43915,12 +43419,14 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0012664", "http://purl.obolibrary.org/obo/MESH_C566956" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0005662", "http://purl.obolibrary.org/obo/NCIT_C84583" ] - }, { - "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0265961", 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"http://purl.obolibrary.org/obo/OMIM_270700" ] + }, { + "nodeIds" : [ "http://www.ebi.ac.uk/efo/EFO_1001956", "http://purl.obolibrary.org/obo/MONDO_0003220" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0038159", "http://purl.obolibrary.org/obo/MONDO_0005971" ] }, { @@ -54981,14 +54357,16 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0008416", "http://www.orpha.net/ORDO/Orphanet_384" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0022776", "http://purl.obolibrary.org/obo/GARD_0001372" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0009865", "http://www.orpha.net/ORDO/Orphanet_97234" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0005961", "http://purl.obolibrary.org/obo/MESH_D012852" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0009865", "http://www.orpha.net/ORDO/Orphanet_97234" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0008282", "http://purl.obolibrary.org/obo/MONDO_0007099" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/CN227589", "http://purl.obolibrary.org/obo/MONDO_0019222" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/ICD10CM_E28.3", "http://purl.obolibrary.org/obo/MONDO_0005387" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/NCIT_C34391", "http://purl.obolibrary.org/obo/MONDO_0017991" ] }, { @@ -54999,10 +54377,10 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_D004011", "http://purl.obolibrary.org/obo/MONDO_0005729" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0017783", "http://purl.obolibrary.org/obo/SCTID_204808002" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0014706", "http://purl.obolibrary.org/obo/OMIM_616603" ] }, { "nodeIds" : [ "http://www.ebi.ac.uk/efo/EFO_1001244", "http://purl.obolibrary.org/obo/MONDO_0007022" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0014706", "http://purl.obolibrary.org/obo/OMIM_616603" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0017638", "http://www.orpha.net/ORDO/Orphanet_306682" ] }, { @@ -55022,9 +54400,11 @@ }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0009615", "http://purl.obolibrary.org/obo/SCTID_765137006" ] }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0006250", "http://purl.obolibrary.org/obo/ICD9_209.03" ] + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0002875", "http://purl.obolibrary.org/obo/ICD10CM_B85-B89" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0001842", "http://purl.obolibrary.org/obo/NCIT_C40172" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0006250", "http://purl.obolibrary.org/obo/ICD9_209.03" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0220991", "http://purl.obolibrary.org/obo/MONDO_0009379" ] }, { @@ -55071,12 +54451,12 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0008732", "http://purl.obolibrary.org/obo/OMIM_202155" ] }, { "nodeIds" : [ 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"http://linkedlifedata.com/resource/umls/id/C4014722" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0019052", "http://linkedlifedata.com/resource/umls/id/C0025521" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0012510", "http://purl.obolibrary.org/obo/MONDO_0017719" ] }, { @@ -57247,12 +56607,12 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_300867", "http://purl.obolibrary.org/obo/MONDO_0010465" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0022642", "http://purl.obolibrary.org/obo/NCIT_C118810" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0032746", "http://purl.obolibrary.org/obo/OMIM_618431" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007592", "http://purl.obolibrary.org/obo/MESH_C565028" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011792", "http://purl.obolibrary.org/obo/MESH_C564608" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0032746", "http://purl.obolibrary.org/obo/OMIM_618431" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/ICD9_771.0", "http://purl.obolibrary.org/obo/MONDO_0017361" ] }, { @@ -57273,14 +56633,14 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011874", "http://linkedlifedata.com/resource/umls/id/C1843355" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007794", "http://purl.obolibrary.org/obo/DOID_0090078" ] - }, { - "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0006008", "http://purl.obolibrary.org/obo/MONDO_0005675" ] }, { "nodeIds" : [ "http://www.ebi.ac.uk/efo/EFO_0004242", "http://purl.obolibrary.org/obo/MONDO_0008114" ] }, { - "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C1846343", "http://purl.obolibrary.org/obo/MONDO_0011822" ] + "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0006008", "http://purl.obolibrary.org/obo/MONDO_0005675" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_269200", "http://purl.obolibrary.org/obo/MONDO_0010012" ] + }, { + "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C1846343", "http://purl.obolibrary.org/obo/MONDO_0011822" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0009033", "http://purl.obolibrary.org/obo/SCTID_719947004" ] }, { @@ -57323,10 +56683,10 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0009450", "http://purl.obolibrary.org/obo/SCTID_233665006" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0007272", "http://purl.obolibrary.org/obo/MONDO_0009796" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0002239", "http://purl.obolibrary.org/obo/SCTID_190437000" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0152902", "http://purl.obolibrary.org/obo/MONDO_0004189" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0002239", "http://purl.obolibrary.org/obo/SCTID_190437000" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_C537616", 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] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_261750", "http://purl.obolibrary.org/obo/MONDO_0009868" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0008479", "http://purl.obolibrary.org/obo/MONDO_0008594" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_261750", "http://purl.obolibrary.org/obo/MONDO_0009868" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011099", "http://www.orpha.net/ORDO/Orphanet_69739" ] }, { @@ -57475,26 +56839,22 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_D015518", "http://purl.obolibrary.org/obo/MONDO_0010726" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0001846", "http://purl.obolibrary.org/obo/MONDO_0022977" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0018623", "http://purl.obolibrary.org/obo/ICD10_F53" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0010349", "http://purl.obolibrary.org/obo/DOID_0080494" ] }, { - "nodeIds" : [ 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{ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0013695", "http://purl.obolibrary.org/obo/MESH_C566039" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_239032007", "http://purl.obolibrary.org/obo/MONDO_0009522" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007876", "http://purl.obolibrary.org/obo/OMIM_150260" ] }, { @@ -66689,8 +66005,6 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/NCIT_C4701", "http://purl.obolibrary.org/obo/MONDO_0013074" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0015743", "http://purl.obolibrary.org/obo/SCTID_737580004" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0001624", "http://purl.obolibrary.org/obo/ICD10_J01.3" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0000133", "http://purl.obolibrary.org/obo/SCTID_234633000" ] }, { @@ -66719,22 +66033,22 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0013291", "http://www.orpha.net/ORDO/Orphanet_263297" ] }, { "nodeIds" : [ 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{ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0005859", "http://www.ebi.ac.uk/efo/EFO_0007379" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_238068007", "http://purl.obolibrary.org/obo/MONDO_0009855" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0016527", "http://purl.obolibrary.org/obo/GARD_0003159" ] }, { @@ -67475,8 +66777,6 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/DOID_0111751", "http://purl.obolibrary.org/obo/MONDO_0010779" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0015629", "http://purl.obolibrary.org/obo/SCTID_359717002" ] - }, { - "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0795828", "http://purl.obolibrary.org/obo/MONDO_0016907" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0012011", "http://purl.obolibrary.org/obo/MONDO_0013758" ] }, { @@ -67503,10 +66803,10 @@ "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_329475", "http://purl.obolibrary.org/obo/MONDO_0018005" ] }, { "nodeIds" : [ 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"http://linkedlifedata.com/resource/umls/id/C2607948" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0000646", "http://purl.obolibrary.org/obo/DOID_0060112" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0019346", "http://linkedlifedata.com/resource/umls/id/CN206021" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0003582", "http://purl.obolibrary.org/obo/NCIT_C8493" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0015720", "http://www.orpha.net/ORDO/Orphanet_169805" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0008391", "http://purl.obolibrary.org/obo/OMIM_180750" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0010293", "http://purl.obolibrary.org/obo/NCIT_C118844" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0008391", "http://purl.obolibrary.org/obo/OMIM_180750" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011884", "http://linkedlifedata.com/resource/umls/id/C1843285" ] }, 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"http://purl.obolibrary.org/obo/SCTID_766870005" ] + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0009098", "http://purl.obolibrary.org/obo/MESH_C538269" ] }, { - "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_264200", "http://purl.obolibrary.org/obo/MONDO_0012324" ] + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0015941", "http://purl.obolibrary.org/obo/SCTID_766870005" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_C537907", "http://purl.obolibrary.org/obo/MONDO_0007797" ] }, { @@ -69607,10 +68887,10 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0013745", "http://purl.obolibrary.org/obo/OMIM_614424" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011113", "http://purl.obolibrary.org/obo/NCIT_C129864" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_717008005", "http://purl.obolibrary.org/obo/MONDO_0010949" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_611283", "http://purl.obolibrary.org/obo/MONDO_0012648" ] + 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"http://linkedlifedata.com/resource/umls/id/C0001849" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_D004473", "http://purl.obolibrary.org/obo/MONDO_0001404" ] }, { @@ -70201,6 +69471,8 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0010768", "http://purl.obolibrary.org/obo/MESH_D018238" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0002776", "http://purl.obolibrary.org/obo/SCTID_49130001" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/ICD10CM_U07.1", "http://purl.obolibrary.org/obo/MONDO_0100096" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0013542", "http://purl.obolibrary.org/obo/OMIM_614042" ] }, { @@ -70247,10 +69519,10 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_C531633", "http://purl.obolibrary.org/obo/MONDO_0000461" ] }, { "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_369897", "http://purl.obolibrary.org/obo/MONDO_0014198" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0014302", 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"http://purl.obolibrary.org/obo/MONDO_0009992" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_C536301", "http://purl.obolibrary.org/obo/MONDO_0017453" ] }, { @@ -72277,10 +71543,10 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_C567137", "http://purl.obolibrary.org/obo/MONDO_0008985" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0016994", "http://purl.obolibrary.org/obo/GARD_0005120" ] - }, { - "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_98907", "http://purl.obolibrary.org/obo/MONDO_0010155" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007070", "http://purl.obolibrary.org/obo/SCTID_71404003" ] + }, { + "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_98907", "http://purl.obolibrary.org/obo/MONDO_0010155" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_311300", "http://purl.obolibrary.org/obo/MONDO_0010704" ] }, { @@ -72293,10 +71559,10 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0000467", 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"http://purl.obolibrary.org/obo/MONDO_0015808" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_78317008", "http://purl.obolibrary.org/obo/MONDO_0019928" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0005701", "http://purl.obolibrary.org/obo/SCTID_105629000" ] }, { @@ -75713,18 +74955,18 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0005148", "http://purl.obolibrary.org/obo/DOID_9352" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0005776", "http://purl.obolibrary.org/obo/MESH_D058429" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011558", "http://purl.obolibrary.org/obo/MESH_C536492" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/DOID_0050118", "http://purl.obolibrary.org/obo/MONDO_0019378" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011558", "http://purl.obolibrary.org/obo/MESH_C536492" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/CN203769", 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"http://purl.obolibrary.org/obo/MONDO_0016817" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0013287", "http://purl.obolibrary.org/obo/OMIM_613500" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_7199000", "http://purl.obolibrary.org/obo/MONDO_0001734" ] }, { @@ -76131,6 +75377,8 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_110100", "http://purl.obolibrary.org/obo/MONDO_0007201" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_C537553", "http://purl.obolibrary.org/obo/MONDO_0043141" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/ICD10CM_J36", "http://purl.obolibrary.org/obo/MONDO_0005906" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0019617", "http://purl.obolibrary.org/obo/SCTID_715668008" ] }, { @@ -76155,18 +75403,16 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_261990", "http://purl.obolibrary.org/obo/MONDO_0009871" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0010064", 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"http://purl.obolibrary.org/obo/MONDO_0007057" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_40278002", "http://purl.obolibrary.org/obo/MONDO_0009252" ] }, { @@ -76725,8 +75969,6 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0016747", "http://purl.obolibrary.org/obo/ONCOTREE_PCNSM" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0014813", "http://purl.obolibrary.org/obo/OMIM_616881" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0003122", "http://purl.obolibrary.org/obo/ICD10_G23.2" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0005320", "http://purl.obolibrary.org/obo/MONDO_0016967" ] }, { @@ -76755,6 +75997,8 @@ "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/CN776879", "http://purl.obolibrary.org/obo/MONDO_0018110" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011419", "http://linkedlifedata.com/resource/umls/id/C1858661" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0005364", "http://purl.obolibrary.org/obo/MONDO_0016526" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0013367", "http://purl.obolibrary.org/obo/GARD_0003285" ] }, { @@ -76763,8 +76007,6 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_703294004", "http://purl.obolibrary.org/obo/MONDO_0015404" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011503", "http://purl.obolibrary.org/obo/OMIM_604931" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/ICD10_D61.82", "http://purl.obolibrary.org/obo/MONDO_0005868" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0271737", "http://purl.obolibrary.org/obo/MONDO_0015129" ] }, { @@ -76775,6 +76017,8 @@ "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0521515", "http://purl.obolibrary.org/obo/MONDO_0001903" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/DOID_0110726", "http://purl.obolibrary.org/obo/MONDO_0008769" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/DOID_5627", "http://purl.obolibrary.org/obo/MONDO_0006217" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0010327", "http://www.orpha.net/ORDO/Orphanet_391417" ] }, { @@ -76823,16 +76067,14 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0009283", "http://purl.obolibrary.org/obo/MESH_C562818" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0019186", "http://purl.obolibrary.org/obo/ICD9_083.0" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0024311", "http://purl.obolibrary.org/obo/ICD10_C40" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_D004927", "http://purl.obolibrary.org/obo/MONDO_0020920" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0018596", "http://linkedlifedata.com/resource/umls/id/CN242146" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_238028008", "http://purl.obolibrary.org/obo/MONDO_0019255" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0010930", "http://www.orpha.net/ORDO/Orphanet_1104" 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"http://linkedlifedata.com/resource/umls/id/C0275859" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0030877", "http://purl.obolibrary.org/obo/OMIM_619143" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011687", "http://purl.obolibrary.org/obo/MESH_C535413" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0013934", "http://www.orpha.net/ORDO/Orphanet_314689" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011199", "http://purl.obolibrary.org/obo/OMIM_602114" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/ICD10_A74.0", "http://purl.obolibrary.org/obo/MONDO_0005808" ] }, { "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_3000", "http://purl.obolibrary.org/obo/MONDO_0008303" ] }, { @@ -77245,18 +76483,18 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_300804", "http://purl.obolibrary.org/obo/MONDO_0010431" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0008228", "http://purl.obolibrary.org/obo/SCTID_84027009" 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{ + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007041", "http://linkedlifedata.com/resource/umls/id/C0001193" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011752", "http://purl.obolibrary.org/obo/DOID_0111115" ] }, { @@ -77733,8 +76971,6 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_C535618", "http://purl.obolibrary.org/obo/MONDO_0007693" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/CN207468", "http://purl.obolibrary.org/obo/MONDO_0020558" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0015439", "http://purl.obolibrary.org/obo/SCTID_81678004" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/DOID_0110626", "http://purl.obolibrary.org/obo/MONDO_0011718" ] }, { @@ -77751,8 +76987,6 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007949", "http://purl.obolibrary.org/obo/MESH_C536025" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0016532", "http://purl.obolibrary.org/obo/MESH_D065768" ] - }, { - 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"http://purl.obolibrary.org/obo/GARD_0005186" ] + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0019232", "http://www.orpha.net/ORDO/Orphanet_79187" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_49292002", "http://purl.obolibrary.org/obo/MONDO_0020088" ] }, { @@ -78245,10 +77471,10 @@ "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C4479333", "http://purl.obolibrary.org/obo/MONDO_0044306" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_302700", "http://purl.obolibrary.org/obo/MONDO_0060456" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_617100", "http://purl.obolibrary.org/obo/MONDO_0044300" ] }, { "nodeIds" : [ "http://www.ebi.ac.uk/efo/EFO_0007324", "http://purl.obolibrary.org/obo/MONDO_0005808" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_617100", "http://purl.obolibrary.org/obo/MONDO_0044300" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0010598", "http://purl.obolibrary.org/obo/OMIM_306000" ] }, { 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"http://www.orpha.net/ORDO/Orphanet_100034" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MESH_C537354", "http://purl.obolibrary.org/obo/MONDO_0012385" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0007041", "http://purl.obolibrary.org/obo/GARD_0005833" ] }, { @@ -78427,8 +77649,6 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/DOID_0110988", "http://purl.obolibrary.org/obo/MONDO_0011963" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C4284284", "http://purl.obolibrary.org/obo/MONDO_0008083" ] - }, { - "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_268261", "http://purl.obolibrary.org/obo/MONDO_0017056" ] }, { "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_99361", "http://purl.obolibrary.org/obo/MONDO_0007958" ] }, { @@ -78463,12 +77683,10 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0005119", "http://purl.obolibrary.org/obo/MESH_D000881" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011787", 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"http://purl.obolibrary.org/obo/ICD10CM_D18.03", "http://purl.obolibrary.org/obo/MONDO_0002337" ] }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0016867", "http://www.orpha.net/ORDO/Orphanet_261771" ] + "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0000548", "http://purl.obolibrary.org/obo/MONDO_0007066" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0033015", "http://purl.obolibrary.org/obo/DOID_0080251" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_52138004", "http://purl.obolibrary.org/obo/MONDO_0020533" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0001956", "http://purl.obolibrary.org/obo/MESH_D019559" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_52138004", "http://purl.obolibrary.org/obo/MONDO_0020533" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0013973", "http://purl.obolibrary.org/obo/OMIM_614927" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/SCTID_294705005", "http://purl.obolibrary.org/obo/MONDO_0007551" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0000463", "http://purl.obolibrary.org/obo/MESH_C536480" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0005639", "http://purl.obolibrary.org/obo/MESH_D000386" ] }, { - "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C1291386", "http://purl.obolibrary.org/obo/MONDO_0009070" ] + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0000463", "http://purl.obolibrary.org/obo/MESH_C536480" ] }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0004835", "http://purl.obolibrary.org/obo/ICD10_M72.6" ] + "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C1291386", "http://purl.obolibrary.org/obo/MONDO_0009070" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0009618", "http://www.orpha.net/ORDO/Orphanet_2515" ] }, { @@ -83141,12 +82321,6 @@ "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_9", "http://purl.obolibrary.org/obo/MONDO_0019525" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0003190", "http://purl.obolibrary.org/obo/DOID_4893" ] - }, { - "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C4304594", "http://purl.obolibrary.org/obo/MONDO_0016838" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0011554", "http://purl.obolibrary.org/obo/OMIM_605429" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0006784", "http://purl.obolibrary.org/obo/ICD10_P53" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/GARD_0003098", "http://purl.obolibrary.org/obo/MONDO_0007860" ] }, { @@ -83202,11 +82376,13 @@ }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/OMIM_168601", "http://purl.obolibrary.org/obo/MONDO_0008200" ] }, { - "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_454718", "http://purl.obolibrary.org/obo/MONDO_0018690" ] + "nodeIds" : [ "http://purl.obolibrary.org/obo/ICD10CM_A91", "http://purl.obolibrary.org/obo/MONDO_0005358" ] }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0006705", "http://linkedlifedata.com/resource/umls/id/C0085392" ] + "nodeIds" : [ "http://www.orpha.net/ORDO/Orphanet_454718", "http://purl.obolibrary.org/obo/MONDO_0018690" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0032588", "http://purl.obolibrary.org/obo/OMIM_618185" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0006705", "http://linkedlifedata.com/resource/umls/id/C0085392" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0021943", "http://linkedlifedata.com/resource/umls/id/C0041295" ] }, { @@ -83223,20 +82399,20 @@ "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0012520", "http://purl.obolibrary.org/obo/NCIT_C131836" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0015126", "http://www.orpha.net/ORDO/Orphanet_101956" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/NCIT_C6359", "http://purl.obolibrary.org/obo/MONDO_0002861" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0009482", "http://purl.obolibrary.org/obo/DOID_0090092" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/NCIT_C6359", "http://purl.obolibrary.org/obo/MONDO_0002861" ] }, { "nodeIds" : [ "http://linkedlifedata.com/resource/umls/id/C0026691", "http://purl.obolibrary.org/obo/MONDO_0012727" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0015084", "http://purl.obolibrary.org/obo/SCTID_716708005" ] + }, { + "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0009105", "http://www.orpha.net/ORDO/Orphanet_84064" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0010478", "http://purl.obolibrary.org/obo/DOID_0070265" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0003589", "http://purl.obolibrary.org/obo/NCIT_C6419" ] - }, { - "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0009105", "http://www.orpha.net/ORDO/Orphanet_84064" ] }, { "nodeIds" : [ "http://purl.obolibrary.org/obo/MONDO_0012727", "http://www.ebi.ac.uk/efo/EFO_0004246" ] }, { diff --git a/imports/equivalencies.obo b/imports/equivalencies.obo index bddc4b1d0a..50c83c3de4 100644 --- a/imports/equivalencies.obo +++ b/imports/equivalencies.obo @@ -432,7 +432,7 @@ equivalent_to: MONDO:0019600 [Term] id: DOID:0050428 -equivalent_to: MONDO:0006588 +equivalent_to: MONDO:0010962 [Term] id: DOID:0050430 @@ -1350,10 +1350,6 @@ equivalent_to: MONDO:0010913 id: DOID:0050879 equivalent_to: MONDO:0010382 -[Term] -id: DOID:0050880 -equivalent_to: MONDO:0018216 - [Term] id: DOID:0050881 equivalent_to: MONDO:0000507 @@ -1942,6 +1938,10 @@ equivalent_to: MONDO:0019978 id: DOID:0060256 equivalent_to: MONDO:0008371 +[Term] +id: DOID:0060262 +equivalent_to: MONDO:0005281 + [Term] id: DOID:0060271 equivalent_to: MONDO:0014370 @@ -2038,6 +2038,10 @@ equivalent_to: MONDO:0010702 id: DOID:0060317 equivalent_to: MONDO:0000744 +[Term] +id: DOID:0060323 +equivalent_to: MONDO:0000749 + [Term] id: DOID:0060330 equivalent_to: MONDO:0007508 @@ -3326,10 +3330,6 @@ equivalent_to: MONDO:0013821 id: DOID:0070057 equivalent_to: MONDO:0014376 -[Term] -id: DOID:0070076 -equivalent_to: MONDO:0018216 - [Term] id: DOID:0070094 equivalent_to: MONDO:0008745 @@ -3546,14 +3546,6 @@ equivalent_to: MONDO:0019941 id: DOID:0070162 equivalent_to: MONDO:0018213 -[Term] -id: DOID:0070186 -equivalent_to: MONDO:0010763 - -[Term] -id: DOID:0070187 -equivalent_to: MONDO:0010767 - [Term] id: DOID:0070190 equivalent_to: MONDO:0010600 @@ -5338,6 +5330,10 @@ equivalent_to: MONDO:0008913 id: DOID:0080639 equivalent_to: MONDO:0021054 +[Term] +id: DOID:0080640 +equivalent_to: MONDO:0021503 + [Term] id: DOID:0080642 equivalent_to: MONDO:0100116 @@ -5830,10 +5826,6 @@ equivalent_to: MONDO:0014266 id: DOID:0110028 equivalent_to: MONDO:0013409 -[Term] -id: DOID:0110029 -equivalent_to: MONDO:0007716 - [Term] id: DOID:0110030 equivalent_to: MONDO:0010519 @@ -6064,7 +6056,7 @@ equivalent_to: MONDO:0013767 [Term] id: DOID:0110119 -equivalent_to: MONDO:0014253 +equivalent_to: MONDO:8000024 [Term] id: DOID:0110120 @@ -10050,6 +10042,10 @@ equivalent_to: MONDO:0005126 id: DOID:10250 equivalent_to: MONDO:0005829 +[Term] +id: DOID:10254 +equivalent_to: MONDO:0000987 + [Term] id: DOID:10264 equivalent_to: MONDO:0000989 @@ -10518,6 +10514,10 @@ equivalent_to: MONDO:0006937 id: DOID:11123 equivalent_to: MONDO:0019167 +[Term] +id: DOID:11151 +equivalent_to: MONDO:0006698 + [Term] id: DOID:11153 equivalent_to: MONDO:0006581 @@ -13702,6 +13702,14 @@ equivalent_to: MONDO:0005655 id: DOID:312 equivalent_to: MONDO:0002517 +[Term] +id: DOID:3120 +equivalent_to: MONDO:0002518 + +[Term] +id: DOID:3121 +equivalent_to: MONDO:0005411 + [Term] id: DOID:3132 equivalent_to: MONDO:0015104 @@ -13946,6 +13954,14 @@ equivalent_to: MONDO:0019499 id: DOID:3492 equivalent_to: MONDO:0005854 +[Term] +id: DOID:3499 +equivalent_to: MONDO:0002667 + +[Term] +id: DOID:3500 +equivalent_to: MONDO:0006215 + [Term] id: DOID:3522 equivalent_to: MONDO:0006827 @@ -14306,6 +14322,14 @@ equivalent_to: MONDO:0019803 id: DOID:404 equivalent_to: MONDO:0005768 +[Term] +id: DOID:4057 +equivalent_to: MONDO:0002856 + +[Term] +id: DOID:4058 +equivalent_to: MONDO:0002857 + [Term] id: DOID:4059 equivalent_to: MONDO:0002858 @@ -14354,6 +14378,10 @@ equivalent_to: MONDO:0002880 id: DOID:4118 equivalent_to: MONDO:0002882 +[Term] +id: DOID:4140 +equivalent_to: MONDO:0005667 + [Term] id: DOID:4151 equivalent_to: MONDO:0002892 @@ -14558,6 +14586,10 @@ equivalent_to: MONDO:0018695 id: DOID:4500 equivalent_to: MONDO:0003019 +[Term] +id: DOID:4513 +equivalent_to: MONDO:0003026 + [Term] id: DOID:4514 equivalent_to: MONDO:0003027 @@ -14790,6 +14822,10 @@ equivalent_to: MONDO:0003211 id: DOID:4931 equivalent_to: MONDO:0003212 +[Term] +id: DOID:4948 +equivalent_to: MONDO:0003220 + [Term] id: DOID:495 equivalent_to: MONDO:0006280 @@ -14922,6 +14958,14 @@ equivalent_to: MONDO:0006873 id: DOID:5119 equivalent_to: MONDO:0003282 +[Term] +id: DOID:5140 +equivalent_to: MONDO:0003297 + +[Term] +id: DOID:5150 +equivalent_to: MONDO:0003303 + [Term] id: DOID:5154 equivalent_to: MONDO:0005676 @@ -14986,6 +15030,10 @@ equivalent_to: MONDO:0005109 id: DOID:5263 equivalent_to: MONDO:0003355 +[Term] +id: DOID:5275 +equivalent_to: MONDO:0003364 + [Term] id: DOID:53 equivalent_to: MONDO:0003381 @@ -15130,6 +15178,10 @@ equivalent_to: MONDO:0003494 id: DOID:5532 equivalent_to: MONDO:0003495 +[Term] +id: DOID:5535 +equivalent_to: MONDO:0006220 + [Term] id: DOID:5538 equivalent_to: MONDO:0003501 @@ -15190,6 +15242,10 @@ equivalent_to: MONDO:0007566 id: DOID:559 equivalent_to: MONDO:0003529 +[Term] +id: DOID:5627 +equivalent_to: MONDO:0006217 + [Term] id: DOID:5638 equivalent_to: MONDO:0003561 @@ -16042,6 +16098,10 @@ equivalent_to: MONDO:0004065 id: DOID:6997 equivalent_to: MONDO:0004066 +[Term] +id: DOID:6998 +equivalent_to: MONDO:0004067 + [Term] id: DOID:700 equivalent_to: MONDO:0004069 @@ -16066,6 +16126,10 @@ equivalent_to: MONDO:0004075 id: DOID:7016 equivalent_to: MONDO:0004076 +[Term] +id: DOID:7017 +equivalent_to: MONDO:0004077 + [Term] id: DOID:7033 equivalent_to: MONDO:0015200 @@ -16198,6 +16262,14 @@ equivalent_to: MONDO:0004141 id: DOID:7207 equivalent_to: MONDO:0004142 +[Term] +id: DOID:7221 +equivalent_to: MONDO:0004148 + +[Term] +id: DOID:7222 +equivalent_to: MONDO:0004149 + [Term] id: DOID:7241 equivalent_to: MONDO:0004161 @@ -16518,6 +16590,10 @@ equivalent_to: MONDO:0004463 id: DOID:811 equivalent_to: MONDO:0006573 +[Term] +id: DOID:8135 +equivalent_to: MONDO:0004474 + [Term] id: DOID:8140 equivalent_to: MONDO:0004477 @@ -16814,10 +16890,6 @@ equivalent_to: MONDO:0021061 id: DOID:8729 equivalent_to: MONDO:0005850 -[Term] -id: DOID:873 -equivalent_to: MONDO:0004649 - [Term] id: DOID:8731 equivalent_to: MONDO:0004650 @@ -17374,6 +17446,18 @@ equivalent_to: MONDO:0006668 id: DOID:971 equivalent_to: MONDO:0004857 +[Term] +id: DOID:9714 +equivalent_to: MONDO:0004858 + +[Term] +id: DOID:9717 +equivalent_to: MONDO:0004859 + +[Term] +id: DOID:9723 +equivalent_to: MONDO:0004862 + [Term] id: DOID:9733 equivalent_to: MONDO:0005938 @@ -18510,10 +18594,6 @@ equivalent_to: MONDO:0011142 id: GARD:0000546 equivalent_to: MONDO:0013869 -[Term] -id: GARD:0000547 -equivalent_to: MONDO:0014220 - [Term] id: GARD:0000548 equivalent_to: MONDO:0007066 @@ -19454,66 +19534,14 @@ equivalent_to: MONDO:0022740 id: GARD:0001319 equivalent_to: MONDO:0015908 -[Term] -id: GARD:0001320 -equivalent_to: MONDO:0015430 - -[Term] -id: GARD:0001322 -equivalent_to: MONDO:0015431 - [Term] id: GARD:0001323 equivalent_to: MONDO:0011055 -[Term] -id: GARD:0001325 -equivalent_to: MONDO:0015432 - [Term] id: GARD:0001327 equivalent_to: MONDO:0015725 -[Term] -id: GARD:0001328 -equivalent_to: MONDO:0019908 - -[Term] -id: GARD:0001333 -equivalent_to: MONDO:0015435 - -[Term] -id: GARD:0001334 -equivalent_to: MONDO:0015436 - -[Term] -id: GARD:0001336 -equivalent_to: MONDO:0015438 - -[Term] -id: GARD:0001339 -equivalent_to: MONDO:0015439 - -[Term] -id: GARD:0001340 -equivalent_to: MONDO:0016903 - -[Term] -id: GARD:0001345 -equivalent_to: MONDO:0015441 - -[Term] -id: GARD:0001346 -equivalent_to: MONDO:0016889 - -[Term] -id: GARD:0001347 -equivalent_to: MONDO:0015443 - -[Term] -id: GARD:0001348 -equivalent_to: MONDO:0019905 - [Term] id: GARD:0001352 equivalent_to: MONDO:0022765 @@ -20038,18 +20066,6 @@ equivalent_to: MONDO:0022949 id: GARD:0001732 equivalent_to: MONDO:0008681 -[Term] -id: GARD:0001735 -equivalent_to: MONDO:0016910 - -[Term] -id: GARD:0001738 -equivalent_to: MONDO:0016911 - -[Term] -id: GARD:0001746 -equivalent_to: MONDO:0016913 - [Term] id: GARD:0001798 equivalent_to: MONDO:0022953 @@ -20232,7 +20248,7 @@ equivalent_to: MONDO:0023015 [Term] id: GARD:0001923 -equivalent_to: MONDO:0016962 +equivalent_to: MONDO:0022173 [Term] id: GARD:0001926 @@ -20240,7 +20256,7 @@ equivalent_to: MONDO:0042969 [Term] id: GARD:0001929 -equivalent_to: MONDO:0016963 +equivalent_to: MONDO:0022177 [Term] id: GARD:0001976 @@ -20774,10 +20790,6 @@ equivalent_to: MONDO:0010111 id: GARD:0002383 equivalent_to: MONDO:0009980 -[Term] -id: GARD:0002384 -equivalent_to: MONDO:0012324 - [Term] id: GARD:0002387 equivalent_to: MONDO:0023193 @@ -20858,10 +20870,6 @@ equivalent_to: MONDO:0009677 id: GARD:0002431 equivalent_to: MONDO:0009262 -[Term] -id: GARD:0002432 -equivalent_to: MONDO:0010641 - [Term] id: GARD:0002435 equivalent_to: MONDO:0023212 @@ -22110,62 +22118,22 @@ equivalent_to: MONDO:0020480 id: GARD:0003711 equivalent_to: MONDO:0012315 -[Term] -id: GARD:0003722 -equivalent_to: MONDO:0016912 - [Term] id: GARD:0003726 equivalent_to: MONDO:0022755 -[Term] -id: GARD:0003730 -equivalent_to: MONDO:0016883 - [Term] id: GARD:0003738 equivalent_to: MONDO:0012927 -[Term] -id: GARD:0003739 -equivalent_to: MONDO:0016898 - -[Term] -id: GARD:0003744 -equivalent_to: MONDO:0016901 - -[Term] -id: GARD:0003746 -equivalent_to: MONDO:0015566 - [Term] id: GARD:0003750 equivalent_to: MONDO:0013424 -[Term] -id: GARD:0003760 -equivalent_to: MONDO:0016905 - [Term] id: GARD:0003764 equivalent_to: MONDO:0013025 -[Term] -id: GARD:0003765 -equivalent_to: MONDO:0016906 - -[Term] -id: GARD:0003768 -equivalent_to: MONDO:0016890 - -[Term] -id: GARD:0003769 -equivalent_to: MONDO:0016658 - -[Term] -id: GARD:0003770 -equivalent_to: MONDO:0016907 - [Term] id: GARD:0003773 equivalent_to: MONDO:0008013 @@ -22514,10 +22482,6 @@ equivalent_to: MONDO:0008150 id: GARD:0004160 equivalent_to: MONDO:0009820 -[Term] -id: GARD:0004168 -equivalent_to: MONDO:0008161 - [Term] id: GARD:0004191 equivalent_to: MONDO:0008176 @@ -22558,14 +22522,6 @@ equivalent_to: MONDO:0010043 id: GARD:0004223 equivalent_to: MONDO:0010867 -[Term] -id: GARD:0004224 -equivalent_to: MONDO:0008557 - -[Term] -id: GARD:0004230 -equivalent_to: MONDO:0015607 - [Term] id: GARD:0004236 equivalent_to: MONDO:0017453 @@ -22634,10 +22590,6 @@ equivalent_to: MONDO:0009864 id: GARD:0004280 equivalent_to: MONDO:0009312 -[Term] -id: GARD:0004302 -equivalent_to: MONDO:0010881 - [Term] id: GARD:0004306 equivalent_to: MONDO:0043172 @@ -22714,10 +22666,6 @@ equivalent_to: MONDO:0017331 id: GARD:0004369 equivalent_to: MONDO:0018061 -[Term] -id: GARD:0004371 -equivalent_to: MONDO:0009958 - [Term] id: GARD:0004372 equivalent_to: MONDO:0012589 @@ -22882,10 +22830,6 @@ equivalent_to: MONDO:0010824 id: GARD:0004582 equivalent_to: MONDO:0012580 -[Term] -id: GARD:0004584 -equivalent_to: MONDO:0009930 - [Term] id: GARD:0004585 equivalent_to: MONDO:0043187 @@ -23014,18 +22958,10 @@ equivalent_to: MONDO:0009998 id: GARD:0004721 equivalent_to: MONDO:0010179 -[Term] -id: GARD:0004722 -equivalent_to: MONDO:0011977 - [Term] id: GARD:0004723 equivalent_to: MONDO:0019951 -[Term] -id: GARD:0004724 -equivalent_to: MONDO:0015433 - [Term] id: GARD:0004729 equivalent_to: MONDO:0008247 @@ -23410,10 +23346,6 @@ equivalent_to: MONDO:0010109 id: GARD:0005151 equivalent_to: MONDO:0018026 -[Term] -id: GARD:0005153 -equivalent_to: MONDO:0018027 - [Term] id: GARD:0005160 equivalent_to: MONDO:0010112 @@ -23664,11 +23596,7 @@ equivalent_to: MONDO:0015772 [Term] id: GARD:0005364 -equivalent_to: MONDO:0016946 - -[Term] -id: GARD:0005369 -equivalent_to: MONDO:0017010 +equivalent_to: MONDO:0016526 [Term] id: GARD:0005372 @@ -24506,30 +24434,14 @@ equivalent_to: MONDO:0700065 id: GARD:0006068 equivalent_to: MONDO:0022174 -[Term] -id: GARD:0006069 -equivalent_to: MONDO:0019907 - -[Term] -id: GARD:0006072 -equivalent_to: MONDO:0014708 - [Term] id: GARD:0006075 equivalent_to: MONDO:0022754 -[Term] -id: GARD:0006077 -equivalent_to: MONDO:0015434 - [Term] id: GARD:0006082 equivalent_to: MONDO:0011929 -[Term] -id: GARD:0006083 -equivalent_to: MONDO:0015437 - [Term] id: GARD:0006085 equivalent_to: MONDO:0019869 @@ -24546,10 +24458,6 @@ equivalent_to: MONDO:0015767 id: GARD:0006093 equivalent_to: MONDO:0015768 -[Term] -id: GARD:0006095 -equivalent_to: MONDO:0015440 - [Term] id: GARD:0006100 equivalent_to: MONDO:0018305 @@ -26246,10 +26154,6 @@ equivalent_to: MONDO:0008597 id: GARD:0007803 equivalent_to: MONDO:0013189 -[Term] -id: GARD:0007815 -equivalent_to: MONDO:0043277 - [Term] id: GARD:0007826 equivalent_to: MONDO:0005459 @@ -26558,10 +26462,6 @@ equivalent_to: MONDO:0007099 id: GARD:0008283 equivalent_to: MONDO:0011636 -[Term] -id: GARD:0008291 -equivalent_to: MONDO:0008351 - [Term] id: GARD:0008295 equivalent_to: MONDO:0007415 @@ -26894,10 +26794,6 @@ equivalent_to: MONDO:0010167 id: GARD:0008540 equivalent_to: MONDO:0021932 -[Term] -id: GARD:0008543 -equivalent_to: MONDO:0008068 - [Term] id: GARD:0008546 equivalent_to: MONDO:0008229 @@ -27566,6 +27462,10 @@ equivalent_to: MONDO:0022642 id: GARD:0009316 equivalent_to: MONDO:0005369 +[Term] +id: GARD:0009328 +equivalent_to: MONDO:0005411 + [Term] id: GARD:0009330 equivalent_to: MONDO:0011366 @@ -27714,10 +27614,6 @@ equivalent_to: MONDO:0009791 id: GARD:0009479 equivalent_to: MONDO:0009614 -[Term] -id: GARD:0009481 -equivalent_to: MONDO:0010856 - [Term] id: GARD:0009486 equivalent_to: MONDO:0007137 @@ -28966,10 +28862,6 @@ equivalent_to: MONDO:0011631 id: GARD:0010096 equivalent_to: MONDO:0007888 -[Term] -id: GARD:0010097 -equivalent_to: MONDO:0007887 - [Term] id: GARD:0010099 equivalent_to: MONDO:0009285 @@ -30298,26 +30190,6 @@ equivalent_to: MONDO:0007768 id: GARD:0010831 equivalent_to: MONDO:0016952 -[Term] -id: GARD:0010837 -equivalent_to: MONDO:0019903 - -[Term] -id: GARD:0010839 -equivalent_to: MONDO:0019904 - -[Term] -id: GARD:0010841 -equivalent_to: MONDO:0016654 - -[Term] -id: GARD:0010846 -equivalent_to: MONDO:0019906 - -[Term] -id: GARD:0010855 -equivalent_to: MONDO:0019909 - [Term] id: GARD:0010860 equivalent_to: MONDO:0018930 @@ -30466,10 +30338,6 @@ equivalent_to: MONDO:0018835 id: GARD:0010934 equivalent_to: MONDO:0013607 -[Term] -id: GARD:0010935 -equivalent_to: MONDO:0016838 - [Term] id: GARD:0010936 equivalent_to: MONDO:0013238 @@ -30546,10 +30414,6 @@ equivalent_to: MONDO:0019437 id: GARD:0010970 equivalent_to: MONDO:0019436 -[Term] -id: GARD:0010972 -equivalent_to: MONDO:0015562 - [Term] id: GARD:0010973 equivalent_to: MONDO:0019260 @@ -30582,10 +30446,6 @@ equivalent_to: MONDO:0009726 id: GARD:0010989 equivalent_to: MONDO:0014157 -[Term] -id: GARD:0010991 -equivalent_to: MONDO:0016765 - [Term] id: GARD:0010992 equivalent_to: MONDO:0013354 @@ -30602,10 +30462,6 @@ equivalent_to: MONDO:0013415 id: GARD:0010997 equivalent_to: MONDO:0013426 -[Term] -id: GARD:0010998 -equivalent_to: MONDO:0016459 - [Term] id: GARD:0010999 equivalent_to: MONDO:0013401 @@ -30766,10 +30622,6 @@ equivalent_to: MONDO:0018274 id: GARD:0012069 equivalent_to: MONDO:0005546 -[Term] -id: GARD:0012070 -equivalent_to: MONDO:0022794 - [Term] id: GARD:0012073 equivalent_to: MONDO:0019632 @@ -31042,10 +30894,6 @@ equivalent_to: MONDO:0014023 id: GARD:0012417 equivalent_to: MONDO:0018349 -[Term] -id: GARD:0012421 -equivalent_to: MONDO:0017009 - [Term] id: GARD:0012426 equivalent_to: MONDO:0009626 @@ -31186,10 +31034,6 @@ equivalent_to: MONDO:0019426 id: GARD:0012491 equivalent_to: MONDO:0010268 -[Term] -id: GARD:0012492 -equivalent_to: MONDO:0016841 - [Term] id: GARD:0012494 equivalent_to: MONDO:0007690 @@ -31770,10 +31614,6 @@ equivalent_to: MONDO:0010657 id: GARD:0013160 equivalent_to: MONDO:0015776 -[Term] -id: GARD:0013170 -equivalent_to: MONDO:0015606 - [Term] id: GARD:0013177 equivalent_to: MONDO:0013404 @@ -31882,10 +31722,6 @@ equivalent_to: MONDO:0013971 id: GARD:0013389 equivalent_to: MONDO:0012923 -[Term] -id: GARD:0013390 -equivalent_to: MONDO:0019784 - [Term] id: GARD:0013391 equivalent_to: MONDO:0012916 @@ -31907,1903 +31743,1963 @@ id: HP:0003530 equivalent_to: MONDO:0000129 [Term] -id: ICD10:A00 +id: ICD10CM:A00 equivalent_to: MONDO:0015766 [Term] -id: ICD10:A00.A09 +id: ICD10CM:A00-A09 equivalent_to: MONDO:0000916 [Term] -id: ICD10:A03 +id: ICD10CM:A00-B99 +equivalent_to: MONDO:0005550 + +[Term] +id: ICD10CM:A03 equivalent_to: MONDO:0019345 [Term] -id: ICD10:A07.0 +id: ICD10CM:A07.0 equivalent_to: MONDO:0005662 [Term] -id: ICD10:A07.2 +id: ICD10CM:A07.2 equivalent_to: MONDO:0015474 [Term] -id: ICD10:A07.3 +id: ICD10CM:A07.3 equivalent_to: MONDO:0018769 [Term] -id: ICD10:A07.4 +id: ICD10CM:A07.4 equivalent_to: MONDO:0005725 [Term] -id: ICD10:A15.6 -equivalent_to: MONDO:0005922 +id: ICD10CM:A15-A19 +equivalent_to: MONDO:0018076 [Term] -id: ICD10:A15.A19 -equivalent_to: MONDO:0018076 +id: ICD10CM:A15.6 +equivalent_to: MONDO:0005922 [Term] -id: ICD10:A18.31 +id: ICD10CM:A18.31 equivalent_to: MONDO:0006000 [Term] -id: ICD10:A19 +id: ICD10CM:A19 equivalent_to: MONDO:0005848 [Term] -id: ICD10:A20 +id: ICD10CM:A20 equivalent_to: MONDO:0019095 [Term] -id: ICD10:A20.0 +id: ICD10CM:A20-A28 +equivalent_to: MONDO:0044746 + +[Term] +id: ICD10CM:A20.0 equivalent_to: MONDO:0001112 [Term] -id: ICD10:A20.2 +id: ICD10CM:A20.2 equivalent_to: MONDO:0001024 [Term] -id: ICD10:A20.7 +id: ICD10CM:A20.7 equivalent_to: MONDO:0005956 [Term] -id: ICD10:A21 +id: ICD10CM:A21 equivalent_to: MONDO:0018077 [Term] -id: ICD10:A21.0 +id: ICD10CM:A21.0 equivalent_to: MONDO:0001413 [Term] -id: ICD10:A21.1 +id: ICD10CM:A21.1 equivalent_to: MONDO:0001665 [Term] -id: ICD10:A21.3 +id: ICD10CM:A21.3 equivalent_to: MONDO:0001916 [Term] -id: ICD10:A22.0 +id: ICD10CM:A22.0 equivalent_to: MONDO:0004215 [Term] -id: ICD10:A22.2 +id: ICD10CM:A22.2 equivalent_to: MONDO:0001701 [Term] -id: ICD10:A23 +id: ICD10CM:A23 equivalent_to: MONDO:0005683 [Term] -id: ICD10:A24.0 +id: ICD10CM:A24.0 equivalent_to: MONDO:0005774 [Term] -id: ICD10:A26 +id: ICD10CM:A26 equivalent_to: MONDO:0000237 [Term] -id: ICD10:A27 +id: ICD10CM:A27 equivalent_to: MONDO:0005825 [Term] -id: ICD10:A28.0 +id: ICD10CM:A28.0 equivalent_to: MONDO:0005901 [Term] -id: ICD10:A28.1 +id: ICD10CM:A28.1 equivalent_to: MONDO:0005692 [Term] -id: ICD10:A30 +id: ICD10CM:A30 equivalent_to: MONDO:0005124 [Term] -id: ICD10:A30.0 +id: ICD10CM:A30.0 equivalent_to: MONDO:0001391 [Term] -id: ICD10:A30.1 +id: ICD10CM:A30.1 equivalent_to: MONDO:0005126 [Term] -id: ICD10:A30.3 +id: ICD10CM:A30.3 equivalent_to: MONDO:0005125 [Term] -id: ICD10:A30.5 +id: ICD10CM:A30.5 equivalent_to: MONDO:0005127 [Term] -id: ICD10:A32 +id: ICD10CM:A32 equivalent_to: MONDO:0005828 [Term] -id: ICD10:A33 +id: ICD10CM:A33 equivalent_to: MONDO:0001737 [Term] -id: ICD10:A36 +id: ICD10CM:A36 equivalent_to: MONDO:0005504 [Term] -id: ICD10:A36.3 +id: ICD10CM:A36.3 equivalent_to: MONDO:0001479 [Term] -id: ICD10:A37.1 +id: ICD10CM:A37.1 equivalent_to: MONDO:0001353 [Term] -id: ICD10:A38 +id: ICD10CM:A38 equivalent_to: MONDO:0005952 [Term] -id: ICD10:A39 +id: ICD10CM:A39 equivalent_to: MONDO:0005373 [Term] -id: ICD10:A39.0 +id: ICD10CM:A39.0 equivalent_to: MONDO:0018059 [Term] -id: ICD10:A39.1 +id: ICD10CM:A39.1 equivalent_to: MONDO:0006015 [Term] -id: ICD10:A42.2 +id: ICD10CM:A42.2 equivalent_to: MONDO:0005699 [Term] -id: ICD10:A43 +id: ICD10CM:A43 equivalent_to: MONDO:0017776 [Term] -id: ICD10:A44 +id: ICD10CM:A44 equivalent_to: MONDO:0005664 [Term] -id: ICD10:A46 +id: ICD10CM:A46 equivalent_to: MONDO:0001266 [Term] -id: ICD10:A48.0 +id: ICD10CM:A48.0 equivalent_to: MONDO:0005767 [Term] -id: ICD10:A48.3 +id: ICD10CM:A48.3 equivalent_to: MONDO:0001881 [Term] -id: ICD10:A48.51 +id: ICD10CM:A48.51 equivalent_to: MONDO:0015804 [Term] -id: ICD10:A48.52 +id: ICD10CM:A48.52 equivalent_to: MONDO:0015803 [Term] -id: ICD10:A50 +id: ICD10CM:A50 equivalent_to: MONDO:0005714 [Term] -id: ICD10:A50.A64 +id: ICD10CM:A50-A64 equivalent_to: MONDO:0021681 [Term] -id: ICD10:A52.02 +id: ICD10CM:A52.02 equivalent_to: MONDO:0006992 [Term] -id: ICD10:A52.11 +id: ICD10CM:A52.11 equivalent_to: MONDO:0005977 [Term] -id: ICD10:A52.2 +id: ICD10CM:A52.2 equivalent_to: MONDO:0000927 [Term] -id: ICD10:A52.3 +id: ICD10CM:A52.3 equivalent_to: MONDO:0004944 [Term] -id: ICD10:A54.31 +id: ICD10CM:A54.31 equivalent_to: MONDO:0015455 [Term] -id: ICD10:A54.32 +id: ICD10CM:A54.32 equivalent_to: MONDO:0004774 [Term] -id: ICD10:A54.33 +id: ICD10CM:A54.33 equivalent_to: MONDO:0004852 [Term] -id: ICD10:A57 +id: ICD10CM:A57 equivalent_to: MONDO:0001797 [Term] -id: ICD10:A58 +id: ICD10CM:A58 equivalent_to: MONDO:0005777 [Term] -id: ICD10:A59 +id: ICD10CM:A59 equivalent_to: MONDO:0002154 [Term] -id: ICD10:A59.0 +id: ICD10CM:A59.0 equivalent_to: MONDO:0005993 [Term] -id: ICD10:A66 +id: ICD10CM:A66 equivalent_to: MONDO:0006019 [Term] -id: ICD10:A68 +id: ICD10CM:A68 equivalent_to: MONDO:0019633 [Term] -id: ICD10:A68.0 +id: ICD10CM:A68.0 equivalent_to: MONDO:0001620 [Term] -id: ICD10:A68.1 +id: ICD10CM:A68.1 equivalent_to: MONDO:0001621 [Term] -id: ICD10:A69.2 +id: ICD10CM:A69.2 equivalent_to: MONDO:0019632 [Term] -id: ICD10:A74.0 +id: ICD10CM:A70-A74 +equivalent_to: MONDO:0021697 + +[Term] +id: ICD10CM:A74.0 equivalent_to: MONDO:0005808 [Term] -id: ICD10:A77 +id: ICD10CM:A75-A79 +equivalent_to: MONDO:0006956 + +[Term] +id: ICD10CM:A77 equivalent_to: MONDO:0001195 [Term] -id: ICD10:A78 +id: ICD10CM:A78 equivalent_to: MONDO:0019186 [Term] -id: ICD10:A79.0 +id: ICD10CM:A79.0 equivalent_to: MONDO:0005991 [Term] -id: ICD10:A80.4 -equivalent_to: MONDO:0003231 +id: ICD10CM:A80-A89 +equivalent_to: MONDO:0024318 [Term] -id: ICD10:A80.A89 -equivalent_to: MONDO:0024318 +id: ICD10CM:A80.4 +equivalent_to: MONDO:0003231 [Term] -id: ICD10:A81.1 +id: ICD10CM:A81.1 equivalent_to: MONDO:0009835 [Term] -id: ICD10:A81.81 +id: ICD10CM:A81.81 equivalent_to: MONDO:0006825 [Term] -id: ICD10:A81.82 +id: ICD10CM:A81.82 equivalent_to: MONDO:0007656 [Term] -id: ICD10:A81.83 +id: ICD10CM:A81.83 equivalent_to: MONDO:0010808 [Term] -id: ICD10:A82 +id: ICD10CM:A82 equivalent_to: MONDO:0019173 [Term] -id: ICD10:A83.1 +id: ICD10CM:A83.1 equivalent_to: MONDO:0019380 [Term] -id: ICD10:A83.2 +id: ICD10CM:A83.2 equivalent_to: MONDO:0005736 [Term] -id: ICD10:A83.3 +id: ICD10CM:A83.3 equivalent_to: MONDO:0005969 [Term] -id: ICD10:A83.4 +id: ICD10CM:A83.4 equivalent_to: MONDO:0001137 [Term] -id: ICD10:A87 +id: ICD10CM:A87 equivalent_to: MONDO:0007015 [Term] -id: ICD10:A87.2 +id: ICD10CM:A87.2 equivalent_to: MONDO:0001449 [Term] -id: ICD10:A91 +id: ICD10CM:A91 equivalent_to: MONDO:0005358 [Term] -id: ICD10:A92.1 +id: ICD10CM:A92.1 equivalent_to: MONDO:0000342 [Term] -id: ICD10:A92.2 +id: ICD10CM:A92.2 equivalent_to: MONDO:0006005 [Term] -id: ICD10:A92.4 +id: ICD10CM:A92.4 equivalent_to: MONDO:0017880 [Term] -id: ICD10:A92.5 +id: ICD10CM:A92.5 equivalent_to: MONDO:0018661 [Term] -id: ICD10:A93.1 +id: ICD10CM:A93.1 equivalent_to: MONDO:0005913 [Term] -id: ICD10:A93.2 +id: ICD10CM:A93.2 equivalent_to: MONDO:0005708 [Term] -id: ICD10:A96.2 +id: ICD10CM:A96.2 equivalent_to: MONDO:0005820 [Term] -id: ICD10:A98.0 +id: ICD10CM:A98.0 equivalent_to: MONDO:0020501 [Term] -id: ICD10:A98.1 +id: ICD10CM:A98.1 equivalent_to: MONDO:0017882 [Term] -id: ICD10:A98.2 +id: ICD10CM:A98.2 equivalent_to: MONDO:0017881 [Term] -id: ICD10:B00 +id: ICD10CM:B00 equivalent_to: MONDO:0004609 [Term] -id: ICD10:B00.0 +id: ICD10CM:B00.0 equivalent_to: MONDO:0004712 [Term] -id: ICD10:B02 +id: ICD10CM:B02 equivalent_to: MONDO:0005609 [Term] -id: ICD10:B03 +id: ICD10CM:B03 equivalent_to: MONDO:0004651 [Term] -id: ICD10:B04 +id: ICD10CM:B04 equivalent_to: MONDO:0002594 [Term] -id: ICD10:B05 +id: ICD10CM:B05 equivalent_to: MONDO:0004619 [Term] -id: ICD10:B06 +id: ICD10CM:B06 equivalent_to: MONDO:0004656 [Term] -id: ICD10:B07.0 +id: ICD10CM:B07.0 equivalent_to: MONDO:0001795 [Term] -id: ICD10:B08.010 +id: ICD10CM:B08.010 equivalent_to: MONDO:0005720 [Term] -id: ICD10:B08.1 +id: ICD10CM:B08.1 equivalent_to: MONDO:0005855 [Term] -id: ICD10:B15.B19 +id: ICD10CM:B15-B19 equivalent_to: MONDO:0006011 [Term] -id: ICD10:B20.B24 +id: ICD10CM:B20-B20 equivalent_to: MONDO:0005109 [Term] -id: ICD10:B26 +id: ICD10CM:B26 equivalent_to: MONDO:0000989 [Term] -id: ICD10:B33.0 +id: ICD10CM:B33.0 equivalent_to: MONDO:0005751 [Term] -id: ICD10:B35 +id: ICD10CM:B35 equivalent_to: MONDO:0004678 [Term] -id: ICD10:B35.1 +id: ICD10CM:B35-B49 +equivalent_to: MONDO:0002041 + +[Term] +id: ICD10CM:B35.1 equivalent_to: MONDO:0001628 [Term] -id: ICD10:B35.2 +id: ICD10CM:B35.2 equivalent_to: MONDO:0001699 [Term] -id: ICD10:B35.3 +id: ICD10CM:B35.3 equivalent_to: MONDO:0005984 [Term] -id: ICD10:B35.4 +id: ICD10CM:B35.4 equivalent_to: MONDO:0001461 [Term] -id: ICD10:B35.5 +id: ICD10CM:B35.5 equivalent_to: MONDO:0000245 [Term] -id: ICD10:B35.B49 -equivalent_to: MONDO:0002041 - -[Term] -id: ICD10:B36.0 +id: ICD10CM:B36.0 equivalent_to: MONDO:0005915 [Term] -id: ICD10:B36.1 +id: ICD10CM:B36.1 equivalent_to: MONDO:0004677 [Term] -id: ICD10:B36.2 +id: ICD10CM:B36.2 equivalent_to: MONDO:0001827 [Term] -id: ICD10:B36.3 +id: ICD10CM:B36.3 equivalent_to: MONDO:0005669 [Term] -id: ICD10:B37 +id: ICD10CM:B37 equivalent_to: MONDO:0002026 [Term] -id: ICD10:B37.3 +id: ICD10CM:B37.3 equivalent_to: MONDO:0006014 [Term] -id: ICD10:B37.81 +id: ICD10CM:B37.81 equivalent_to: MONDO:0001648 [Term] -id: ICD10:B38 +id: ICD10CM:B38 equivalent_to: MONDO:0005706 [Term] -id: ICD10:B39 +id: ICD10CM:B39 equivalent_to: MONDO:0018312 [Term] -id: ICD10:B40 +id: ICD10CM:B40 equivalent_to: MONDO:0005672 [Term] -id: ICD10:B41 +id: ICD10CM:B41 equivalent_to: MONDO:0005894 [Term] -id: ICD10:B42 +id: ICD10CM:B42 equivalent_to: MONDO:0005968 [Term] -id: ICD10:B44 +id: ICD10CM:B44 equivalent_to: MONDO:0005657 [Term] -id: ICD10:B44.81 +id: ICD10CM:B44.81 equivalent_to: MONDO:0015243 [Term] -id: ICD10:B45 +id: ICD10CM:B45 equivalent_to: MONDO:0005724 [Term] -id: ICD10:B46 +id: ICD10CM:B46 equivalent_to: MONDO:0019136 [Term] -id: ICD10:B47 +id: ICD10CM:B47 equivalent_to: MONDO:0016823 [Term] -id: ICD10:B48.0 +id: ICD10CM:B48.0 equivalent_to: MONDO:0001616 [Term] -id: ICD10:B48.1 +id: ICD10CM:B48.1 equivalent_to: MONDO:0005946 [Term] -id: ICD10:B48.3 +id: ICD10CM:B48.3 equivalent_to: MONDO:0005772 [Term] -id: ICD10:B50.B64 -equivalent_to: MONDO:0001955 +id: ICD10CM:B50-B64 +equivalent_to: MONDO:0002428 [Term] -id: ICD10:B51 +id: ICD10CM:B51 equivalent_to: MONDO:0005921 [Term] -id: ICD10:B52 +id: ICD10CM:B52 equivalent_to: MONDO:0001943 [Term] -id: ICD10:B53 +id: ICD10CM:B53 equivalent_to: MONDO:0005136 [Term] -id: ICD10:B55 +id: ICD10CM:B55 equivalent_to: MONDO:0011989 [Term] -id: ICD10:B55.0 +id: ICD10CM:B55.0 equivalent_to: MONDO:0005445 [Term] -id: ICD10:B55.1 +id: ICD10CM:B55.1 equivalent_to: MONDO:0005446 [Term] -id: ICD10:B55.2 +id: ICD10CM:B55.2 equivalent_to: MONDO:0005859 [Term] -id: ICD10:B56 +id: ICD10CM:B56 equivalent_to: MONDO:0000940 [Term] -id: ICD10:B57 +id: ICD10CM:B57 equivalent_to: MONDO:0001444 [Term] -id: ICD10:B58 +id: ICD10CM:B58 equivalent_to: MONDO:0005989 [Term] -id: ICD10:B59 +id: ICD10CM:B59 equivalent_to: MONDO:0019121 [Term] -id: ICD10:B60.0 +id: ICD10CM:B60.0 equivalent_to: MONDO:0005661 [Term] -id: ICD10:B65.3 -equivalent_to: MONDO:0001260 +id: ICD10CM:B65-B83 +equivalent_to: MONDO:0004664 [Term] -id: ICD10:B65.B83 -equivalent_to: MONDO:0004664 +id: ICD10CM:B65.3 +equivalent_to: MONDO:0001260 [Term] -id: ICD10:B66.0 +id: ICD10CM:B66.0 equivalent_to: MONDO:0005884 [Term] -id: ICD10:B66.1 +id: ICD10CM:B66.1 equivalent_to: MONDO:0005705 [Term] -id: ICD10:B66.3 +id: ICD10CM:B66.3 equivalent_to: MONDO:0004668 [Term] -id: ICD10:B66.4 +id: ICD10CM:B66.4 equivalent_to: MONDO:0005895 [Term] -id: ICD10:B66.5 +id: ICD10CM:B66.5 equivalent_to: MONDO:0004672 [Term] -id: ICD10:B68 +id: ICD10CM:B68 equivalent_to: MONDO:0000367 [Term] -id: ICD10:B69 +id: ICD10CM:B69 equivalent_to: MONDO:0015484 [Term] -id: ICD10:B70.0 +id: ICD10CM:B70.0 equivalent_to: MONDO:0015260 [Term] -id: ICD10:B70.1 +id: ICD10CM:B70.1 equivalent_to: MONDO:0005963 [Term] -id: ICD10:B71.0 +id: ICD10CM:B71.0 equivalent_to: MONDO:0005802 [Term] -id: ICD10:B72 +id: ICD10CM:B72 equivalent_to: MONDO:0016472 [Term] -id: ICD10:B73 +id: ICD10CM:B73 equivalent_to: MONDO:0017137 [Term] -id: ICD10:B74 +id: ICD10CM:B74 equivalent_to: MONDO:0016075 [Term] -id: ICD10:B74.3 +id: ICD10CM:B74.3 equivalent_to: MONDO:0016566 [Term] -id: ICD10:B74.4 +id: ICD10CM:B74.4 equivalent_to: MONDO:0005838 [Term] -id: ICD10:B75 +id: ICD10CM:B75 equivalent_to: MONDO:0019444 [Term] -id: ICD10:B76.1 +id: ICD10CM:B76.1 equivalent_to: MONDO:0005870 [Term] -id: ICD10:B77 +id: ICD10CM:B77 equivalent_to: MONDO:0005654 [Term] -id: ICD10:B79 +id: ICD10CM:B79 equivalent_to: MONDO:0005996 [Term] -id: ICD10:B80 +id: ICD10CM:B80 equivalent_to: MONDO:0005746 [Term] -id: ICD10:B81.0 +id: ICD10CM:B81.0 equivalent_to: MONDO:0015200 [Term] -id: ICD10:B81.2 +id: ICD10CM:B81.2 equivalent_to: MONDO:0005995 [Term] -id: ICD10:B83.1 +id: ICD10CM:B83.1 equivalent_to: MONDO:0005776 [Term] -id: ICD10:B85.2 +id: ICD10CM:B85-B89 +equivalent_to: MONDO:0002875 + +[Term] +id: ICD10CM:B85.2 equivalent_to: MONDO:0003472 [Term] -id: ICD10:B85.3 +id: ICD10CM:B85.3 equivalent_to: MONDO:0001794 [Term] -id: ICD10:B86 +id: ICD10CM:B86 equivalent_to: MONDO:0004525 [Term] -id: ICD10:B87.0 +id: ICD10CM:B87.0 equivalent_to: MONDO:0020568 [Term] -id: ICD10:B87.1 +id: ICD10CM:B87.1 equivalent_to: MONDO:0015622 [Term] -id: ICD10:B88.3 +id: ICD10CM:B88.3 equivalent_to: MONDO:0024303 [Term] -id: ICD10:C25.4 +id: ICD10CM:C25.4 equivalent_to: MONDO:0005893 [Term] -id: ICD10:C31.1 +id: ICD10CM:C31.1 equivalent_to: MONDO:0001763 [Term] -id: ICD10:C31.2 +id: ICD10CM:C31.2 equivalent_to: MONDO:0001756 [Term] -id: ICD10:C31.3 +id: ICD10CM:C31.3 equivalent_to: MONDO:0001994 [Term] -id: ICD10:C40 +id: ICD10CM:C40 equivalent_to: MONDO:0024311 [Term] -id: ICD10:C40.1 +id: ICD10CM:C40.1 equivalent_to: MONDO:0024312 [Term] -id: ICD10:C40.2 +id: ICD10CM:C40.2 equivalent_to: MONDO:0000952 [Term] -id: ICD10:C75.4 +id: ICD10CM:C75.4 equivalent_to: MONDO:0004650 [Term] -id: ICD10:C86.3 +id: ICD10CM:C86.3 equivalent_to: MONDO:0019475 [Term] -id: ICD10:C88.0 +id: ICD10CM:C88.0 equivalent_to: MONDO:0100280 [Term] -id: ICD10:D18.02 +id: ICD10CM:D18.02 equivalent_to: MONDO:0002328 [Term] -id: ICD10:D18.03 +id: ICD10CM:D18.03 equivalent_to: MONDO:0002337 [Term] -id: ICD10:D25.0 +id: ICD10CM:D25.0 equivalent_to: MONDO:0001664 [Term] -id: ICD10:D25.1 +id: ICD10CM:D25.1 equivalent_to: MONDO:0001843 [Term] -id: ICD10:D35.1 +id: ICD10CM:D35.1 equivalent_to: MONDO:0021463 [Term] -id: ICD10:D35.2 +id: ICD10CM:D35.2 equivalent_to: MONDO:0021439 [Term] -id: ICD10:D44.8 +id: ICD10CM:D44.8 equivalent_to: MONDO:0015079 [Term] -id: ICD10:D46.A +id: ICD10CM:D46.A equivalent_to: MONDO:0019453 [Term] -id: ICD10:D47.Z2 +id: ICD10CM:D47.Z2 equivalent_to: MONDO:0015564 [Term] -id: ICD10:D51.2 +id: ICD10CM:D51.2 equivalent_to: MONDO:0010149 [Term] -id: ICD10:D56.3 +id: ICD10CM:D56.3 equivalent_to: MONDO:0044210 [Term] -id: ICD10:D61.0 +id: ICD10CM:D61.0 equivalent_to: MONDO:0001713 [Term] -id: ICD10:D61.3 +id: ICD10CM:D61.3 equivalent_to: MONDO:0012197 [Term] -id: ICD10:D61.82 +id: ICD10CM:D61.82 equivalent_to: MONDO:0005868 [Term] -id: ICD10:D68.61 +id: ICD10CM:D68.61 equivalent_to: MONDO:8000010 [Term] -id: ICD10:D69.41 +id: ICD10CM:D69.41 equivalent_to: MONDO:0016030 [Term] -id: ICD10:D73.3 +id: ICD10CM:D73.3 equivalent_to: MONDO:0002333 [Term] -id: ICD10:D80.7 +id: ICD10CM:D80.7 equivalent_to: MONDO:0015698 [Term] -id: ICD10:D81.810 +id: ICD10CM:D81.810 equivalent_to: MONDO:0009665 [Term] -id: ICD10:D81.819 +id: ICD10CM:D81.819 equivalent_to: MONDO:0015454 [Term] -id: ICD10:D82.0 +id: ICD10CM:D82.0 equivalent_to: MONDO:0010518 [Term] -id: ICD10:D86.3 +id: ICD10CM:D86.3 equivalent_to: MONDO:0006611 [Term] -id: ICD10:D86.81 +id: ICD10CM:D86.81 equivalent_to: MONDO:0001424 [Term] -id: ICD10:D89.0 +id: ICD10CM:D89.0 equivalent_to: MONDO:0002272 [Term] -id: ICD10:E00.E07 +id: ICD10CM:E00-E07 equivalent_to: MONDO:0003240 [Term] -id: ICD10:E06.0 +id: ICD10CM:E06.0 equivalent_to: MONDO:0001949 [Term] -id: ICD10:E06.1 +id: ICD10CM:E06.1 equivalent_to: MONDO:0006982 [Term] -id: ICD10:E06.3 +id: ICD10CM:E06.3 equivalent_to: MONDO:0007699 [Term] -id: ICD10:E07.81 +id: ICD10CM:E07.81 equivalent_to: MONDO:0006755 [Term] -id: ICD10:E10.E14 +id: ICD10CM:E08-E13 equivalent_to: MONDO:0005015 [Term] -id: ICD10:E20 +id: ICD10CM:E20 equivalent_to: MONDO:0001220 [Term] -id: ICD10:E20.1 +id: ICD10CM:E20.1 equivalent_to: MONDO:0019992 [Term] -id: ICD10:E22.1 +id: ICD10CM:E22.1 equivalent_to: MONDO:0005804 [Term] -id: ICD10:E23.0 +id: ICD10CM:E23.0 equivalent_to: MONDO:0005152 [Term] -id: ICD10:E24 +id: ICD10CM:E24 equivalent_to: MONDO:0018912 [Term] -id: ICD10:E24.0 +id: ICD10CM:E24.0 equivalent_to: MONDO:0020528 [Term] -id: ICD10:E26 +id: ICD10CM:E26 equivalent_to: MONDO:0003009 [Term] -id: ICD10:E26.0 +id: ICD10CM:E26.0 equivalent_to: MONDO:0001422 [Term] -id: ICD10:E26.02 +id: ICD10CM:E26.02 equivalent_to: MONDO:0007080 [Term] -id: ICD10:E28 +id: ICD10CM:E28 equivalent_to: MONDO:0001889 [Term] -id: ICD10:E28.0 +id: ICD10CM:E28.0 equivalent_to: MONDO:0001946 [Term] -id: ICD10:E28.3 +id: ICD10CM:E28.3 equivalent_to: MONDO:0005387 [Term] -id: ICD10:E30.1 +id: ICD10CM:E30.1 equivalent_to: MONDO:0000088 [Term] -id: ICD10:E31.0 +id: ICD10CM:E31.0 equivalent_to: MONDO:0017278 [Term] -id: ICD10:E34.0 +id: ICD10CM:E34.0 equivalent_to: MONDO:0100347 [Term] -id: ICD10:E34.51 +id: ICD10CM:E34.51 equivalent_to: MONDO:0021023 [Term] -id: ICD10:E34.52 +id: ICD10CM:E34.52 equivalent_to: MONDO:0010720 [Term] -id: ICD10:E40 +id: ICD10CM:E40 equivalent_to: MONDO:0006826 [Term] -id: ICD10:E40.E46 +id: ICD10CM:E40-E46 equivalent_to: MONDO:0006873 [Term] -id: ICD10:E41 +id: ICD10CM:E41 equivalent_to: MONDO:0006848 [Term] -id: ICD10:E54 +id: ICD10CM:E54 equivalent_to: MONDO:0006661 [Term] -id: ICD10:E55 +id: ICD10CM:E55 equivalent_to: MONDO:0100471 [Term] -id: ICD10:E56.1 +id: ICD10CM:E56.1 equivalent_to: MONDO:0001244 [Term] -id: ICD10:E61.2 +id: ICD10CM:E61.2 equivalent_to: MONDO:0006844 [Term] -id: ICD10:E67.0 +id: ICD10CM:E67.0 equivalent_to: MONDO:0006798 [Term] -id: ICD10:E67.3 +id: ICD10CM:E67.3 equivalent_to: MONDO:0004937 [Term] -id: ICD10:E70.21 +id: ICD10CM:E70-E88 +equivalent_to: MONDO:0005066 + +[Term] +id: ICD10CM:E70-E90 +equivalent_to: MONDO:0005066 + +[Term] +id: ICD10CM:E70.21 equivalent_to: MONDO:0004741 [Term] -id: ICD10:E70.3 +id: ICD10CM:E70.3 equivalent_to: MONDO:0043209 [Term] -id: ICD10:E70.330 +id: ICD10CM:E70.330 equivalent_to: MONDO:0008963 [Term] -id: ICD10:E70.331 +id: ICD10CM:E70.331 equivalent_to: MONDO:0019312 [Term] -id: ICD10:E70.40 +id: ICD10CM:E70.40 equivalent_to: MONDO:0019228 [Term] -id: ICD10:E70.41 +id: ICD10CM:E70.41 equivalent_to: MONDO:0009345 [Term] -id: ICD10:E70.E90 -equivalent_to: MONDO:0005066 - -[Term] -id: ICD10:E71.0 +id: ICD10CM:E71.0 equivalent_to: MONDO:0009563 [Term] -id: ICD10:E71.110 +id: ICD10CM:E71.110 equivalent_to: MONDO:0009475 [Term] -id: ICD10:E71.111 +id: ICD10CM:E71.111 equivalent_to: MONDO:0017359 [Term] -id: ICD10:E71.120 +id: ICD10CM:E71.120 equivalent_to: MONDO:0002012 [Term] -id: ICD10:E71.121 +id: ICD10CM:E71.121 equivalent_to: MONDO:0011628 [Term] -id: ICD10:E71.310 +id: ICD10CM:E71.310 equivalent_to: MONDO:0008723 [Term] -id: ICD10:E71.311 +id: ICD10CM:E71.311 equivalent_to: MONDO:0008721 [Term] -id: ICD10:E71.312 +id: ICD10CM:E71.312 equivalent_to: MONDO:0008722 [Term] -id: ICD10:E71.510 +id: ICD10CM:E71.510 equivalent_to: MONDO:0019609 [Term] -id: ICD10:E71.540 +id: ICD10CM:E71.540 equivalent_to: MONDO:0015776 [Term] -id: ICD10:E72.04 +id: ICD10CM:E72.04 equivalent_to: MONDO:0016239 [Term] -id: ICD10:E72.23 +id: ICD10CM:E72.23 equivalent_to: MONDO:0015991 [Term] -id: ICD10:E72.3 +id: ICD10CM:E72.3 equivalent_to: MONDO:0017351 [Term] -id: ICD10:E73.0 +id: ICD10CM:E73.0 equivalent_to: MONDO:0009115 [Term] -id: ICD10:E74.0 +id: ICD10CM:E74.0 equivalent_to: MONDO:0002412 [Term] -id: ICD10:E74.01 +id: ICD10CM:E74.01 equivalent_to: MONDO:0002413 [Term] -id: ICD10:E74.11 +id: ICD10CM:E74.11 equivalent_to: MONDO:0009252 [Term] -id: ICD10:E74.12 +id: ICD10CM:E74.12 equivalent_to: MONDO:0009249 [Term] -id: ICD10:E75.0 +id: ICD10CM:E75.0 equivalent_to: MONDO:0017720 [Term] -id: ICD10:E75.01 +id: ICD10CM:E75.01 equivalent_to: MONDO:0010006 [Term] -id: ICD10:E75.02 +id: ICD10CM:E75.02 equivalent_to: MONDO:0010100 [Term] -id: ICD10:E75.22 +id: ICD10CM:E75.22 equivalent_to: MONDO:0018150 [Term] -id: ICD10:E75.23 +id: ICD10CM:E75.23 equivalent_to: MONDO:0009499 [Term] -id: ICD10:E75.241 +id: ICD10CM:E75.241 equivalent_to: MONDO:0011871 [Term] -id: ICD10:E75.4 +id: ICD10CM:E75.4 equivalent_to: MONDO:0016295 [Term] -id: ICD10:E76.1 +id: ICD10CM:E76.1 equivalent_to: MONDO:0010674 [Term] -id: ICD10:E78.5 +id: ICD10CM:E78.5 equivalent_to: MONDO:0021187 [Term] -id: ICD10:E78.71 +id: ICD10CM:E78.71 equivalent_to: MONDO:0010543 [Term] -id: ICD10:E78.72 +id: ICD10CM:E78.72 equivalent_to: MONDO:0010035 [Term] -id: ICD10:E79.1 +id: ICD10CM:E79.1 equivalent_to: MONDO:0010298 [Term] -id: ICD10:E80.4 +id: ICD10CM:E80.4 equivalent_to: MONDO:0007745 [Term] -id: ICD10:E80.5 +id: ICD10CM:E80.5 equivalent_to: MONDO:0009044 [Term] -id: ICD10:E83 +id: ICD10CM:E83 equivalent_to: MONDO:0000226 [Term] -id: ICD10:E83.1 +id: ICD10CM:E83.1 equivalent_to: MONDO:0002279 [Term] -id: ICD10:E83.110 +id: ICD10CM:E83.110 equivalent_to: MONDO:0006507 [Term] -id: ICD10:E83.3 +id: ICD10CM:E83.3 equivalent_to: MONDO:0002319 [Term] -id: ICD10:E83.52 +id: ICD10CM:E83.52 equivalent_to: MONDO:0001566 [Term] -id: ICD10:E84 +id: ICD10CM:E84 equivalent_to: MONDO:0009061 [Term] -id: ICD10:E87.6 +id: ICD10CM:E87.6 equivalent_to: MONDO:0003019 [Term] -id: ICD10:E88.01 +id: ICD10CM:E88.01 equivalent_to: MONDO:0013282 [Term] -id: ICD10:E88.41 +id: ICD10CM:E88.41 equivalent_to: MONDO:0010789 [Term] -id: ICD10:E88.42 +id: ICD10CM:E88.42 equivalent_to: MONDO:0010790 [Term] -id: ICD10:E88.81 +id: ICD10CM:E88.81 equivalent_to: MONDO:0004955 [Term] -id: ICD10:F42 +id: ICD10CM:F42 equivalent_to: MONDO:0008114 [Term] -id: ICD10:F50.0 +id: ICD10CM:F50.0 equivalent_to: MONDO:0005351 [Term] -id: ICD10:F50.2 +id: ICD10CM:F50.2 equivalent_to: MONDO:0005452 [Term] -id: ICD10:F53 +id: ICD10CM:F53 equivalent_to: MONDO:0018623 [Term] -id: ICD10:F63.0 +id: ICD10CM:F63.0 equivalent_to: MONDO:0011662 [Term] -id: ICD10:F63.3 +id: ICD10CM:F63.3 equivalent_to: MONDO:0013189 [Term] -id: ICD10:G00.1 +id: ICD10CM:G00.1 equivalent_to: MONDO:0006913 [Term] -id: ICD10:G00.2 +id: ICD10CM:G00.2 equivalent_to: MONDO:0001316 [Term] -id: ICD10:G11.4 +id: ICD10CM:G11.4 equivalent_to: MONDO:0019064 [Term] -id: ICD10:G21.0 +id: ICD10CM:G21.0 equivalent_to: MONDO:0019790 [Term] -id: ICD10:G23.2 +id: ICD10CM:G23.2 equivalent_to: MONDO:0003122 [Term] -id: ICD10:G31.01 +id: ICD10CM:G31.01 equivalent_to: MONDO:0008243 [Term] -id: ICD10:G31.83 +id: ICD10CM:G31.83 equivalent_to: MONDO:0007488 [Term] -id: ICD10:G44.82 +id: ICD10CM:G44.82 equivalent_to: MONDO:0011848 [Term] -id: ICD10:G47.31 +id: ICD10CM:G47.31 equivalent_to: MONDO:0024356 [Term] -id: ICD10:G47.33 +id: ICD10CM:G47.33 equivalent_to: MONDO:0007147 [Term] -id: ICD10:G57.5 +id: ICD10CM:G57.5 equivalent_to: MONDO:0006994 [Term] -id: ICD10:G60.1 +id: ICD10CM:G60.1 equivalent_to: MONDO:0009958 [Term] -id: ICD10:G61.0 +id: ICD10CM:G61.0 equivalent_to: MONDO:0016218 [Term] -id: ICD10:G83.4 +id: ICD10CM:G83.4 equivalent_to: MONDO:0005693 [Term] -id: ICD10:G83.81 +id: ICD10CM:G83.81 equivalent_to: MONDO:0003754 [Term] -id: ICD10:H18.53 +id: ICD10CM:H18.53 equivalent_to: MONDO:0001490 [Term] -id: ICD10:H31.21 +id: ICD10CM:H31.21 equivalent_to: MONDO:0010557 [Term] -id: ICD10:H36.0 -equivalent_to: MONDO:0005266 - -[Term] -id: ICD10:H40.1 +id: ICD10CM:H40.1 equivalent_to: MONDO:0007665 [Term] -id: ICD10:H49.4 +id: ICD10CM:H49.4 equivalent_to: MONDO:0005181 [Term] -id: ICD10:H53.62 +id: ICD10CM:H53.62 equivalent_to: MONDO:0001296 [Term] -id: ICD10:H60 +id: ICD10CM:H60 equivalent_to: MONDO:0004795 [Term] -id: ICD10:H60.2 +id: ICD10CM:H60-H62 +equivalent_to: MONDO:0002776 + +[Term] +id: ICD10CM:H60.2 equivalent_to: MONDO:0001050 [Term] -id: ICD10:H60.4 +id: ICD10CM:H60.4 equivalent_to: MONDO:0006532 [Term] -id: ICD10:H60.H62 -equivalent_to: MONDO:0002776 +id: ICD10CM:H65-H75 +equivalent_to: MONDO:0003276 [Term] -id: ICD10:H65.0 +id: ICD10CM:H65.0 equivalent_to: MONDO:0001312 [Term] -id: ICD10:H66.1 +id: ICD10CM:H66.1 equivalent_to: MONDO:0001964 [Term] -id: ICD10:H71 +id: ICD10CM:H71 equivalent_to: MONDO:0006533 [Term] -id: ICD10:H74.0 +id: ICD10CM:H74.0 equivalent_to: MONDO:0001443 [Term] -id: ICD10:H74.4 +id: ICD10CM:H74.4 equivalent_to: MONDO:0004223 [Term] -id: ICD10:H80.H83 +id: ICD10CM:H80-H83 equivalent_to: MONDO:0002467 [Term] -id: ICD10:H83.0 +id: ICD10CM:H83.0 equivalent_to: MONDO:0002008 [Term] -id: ICD10:I45.81 +id: ICD10CM:I00-I02 +equivalent_to: MONDO:0017767 + +[Term] +id: ICD10CM:I45.81 equivalent_to: MONDO:0002442 [Term] -id: ICD10:I49.5 +id: ICD10CM:I49.5 equivalent_to: MONDO:0001823 [Term] -id: ICD10:I68.0 +id: ICD10CM:I68.0 equivalent_to: MONDO:0005620 [Term] -id: ICD10:I73.0 +id: ICD10CM:I73.0 equivalent_to: MONDO:0008364 [Term] -id: ICD10:I73.81 +id: ICD10CM:I73.81 equivalent_to: MONDO:0016028 [Term] -id: ICD10:I78.0 +id: ICD10CM:I78.0 equivalent_to: MONDO:0019180 [Term] -id: ICD10:J01.0 +id: ICD10CM:J01.0 equivalent_to: MONDO:0002186 [Term] -id: ICD10:J01.1 +id: ICD10CM:J01.1 equivalent_to: MONDO:0001912 [Term] -id: ICD10:J01.3 +id: ICD10CM:J01.3 equivalent_to: MONDO:0001624 [Term] -id: ICD10:J04.1 +id: ICD10CM:J04.1 equivalent_to: MONDO:0005990 [Term] -id: ICD10:J13 +id: ICD10CM:J13 equivalent_to: MONDO:0005972 [Term] -id: ICD10:J15.0 +id: ICD10CM:J15.0 equivalent_to: MONDO:0030602 [Term] -id: ICD10:J18.9 +id: ICD10CM:J18.9 equivalent_to: MONDO:0005249 [Term] -id: ICD10:J30 +id: ICD10CM:J30 equivalent_to: MONDO:0003014 [Term] -id: ICD10:J30.0 +id: ICD10CM:J30.0 equivalent_to: MONDO:0006004 [Term] -id: ICD10:J31.0 +id: ICD10CM:J31.0 equivalent_to: MONDO:0004514 [Term] -id: ICD10:J32.0 +id: ICD10CM:J32.0 equivalent_to: MONDO:0001122 [Term] -id: ICD10:J32.1 +id: ICD10CM:J32.1 equivalent_to: MONDO:0001120 [Term] -id: ICD10:J32.2 +id: ICD10CM:J32.2 equivalent_to: MONDO:0004757 [Term] -id: ICD10:J32.3 +id: ICD10CM:J32.3 equivalent_to: MONDO:0001123 [Term] -id: ICD10:J36 +id: ICD10CM:J36 equivalent_to: MONDO:0005906 [Term] -id: ICD10:J80 +id: ICD10CM:J80 equivalent_to: MONDO:0006502 [Term] -id: ICD10:J84.112 +id: ICD10CM:J84.112 equivalent_to: MONDO:0008345 [Term] -id: ICD10:J84.116 +id: ICD10CM:J84.116 equivalent_to: MONDO:0015264 [Term] -id: ICD10:J84.2 +id: ICD10CM:J84.2 equivalent_to: MONDO:0009537 [Term] -id: ICD10:K00.0 +id: ICD10CM:K00.0 equivalent_to: MONDO:0008797 [Term] -id: ICD10:K00.1 +id: ICD10CM:K00.1 equivalent_to: MONDO:0008533 [Term] -id: ICD10:K04.0 +id: ICD10CM:K04.0 equivalent_to: MONDO:0006937 [Term] -id: ICD10:K25 +id: ICD10CM:K25 equivalent_to: MONDO:0001126 [Term] -id: ICD10:K26 +id: ICD10CM:K26 equivalent_to: MONDO:0005412 [Term] -id: ICD10:K28.0 +id: ICD10CM:K28.0 equivalent_to: MONDO:0001155 [Term] -id: ICD10:K31.84 +id: ICD10CM:K31.84 equivalent_to: MONDO:0006769 [Term] -id: ICD10:K56.1 +id: ICD10CM:K56.1 equivalent_to: MONDO:0007835 [Term] -id: ICD10:K58 +id: ICD10CM:K58 equivalent_to: MONDO:0005052 [Term] -id: ICD10:K76.7 +id: ICD10CM:K76.7 equivalent_to: MONDO:0001382 [Term] -id: ICD10:K83.0 +id: ICD10CM:K82 +equivalent_to: MONDO:0005281 + +[Term] +id: ICD10CM:K82.0 +equivalent_to: MONDO:0004858 + +[Term] +id: ICD10CM:K82.1 +equivalent_to: MONDO:0004859 + +[Term] +id: ICD10CM:K82.4 +equivalent_to: MONDO:0000987 + +[Term] +id: ICD10CM:K83.0 equivalent_to: MONDO:0004789 [Term] -id: ICD10:K86.81 +id: ICD10CM:K86.81 equivalent_to: MONDO:0001684 [Term] -id: ICD10:K90.3 +id: ICD10CM:K90.3 equivalent_to: MONDO:0001079 [Term] -id: ICD10:K90.81 +id: ICD10CM:K90.81 equivalent_to: MONDO:0005116 [Term] -id: ICD10:L00 +id: ICD10CM:L00 equivalent_to: MONDO:0018181 [Term] -id: ICD10:L01 +id: ICD10CM:L01 equivalent_to: MONDO:0004592 [Term] -id: ICD10:L01.03 +id: ICD10CM:L01.03 equivalent_to: MONDO:0018182 [Term] -id: ICD10:L10.81 +id: ICD10CM:L10.81 equivalent_to: MONDO:0018974 [Term] -id: ICD10:L51.1 +id: ICD10CM:L51.1 equivalent_to: MONDO:0018229 [Term] -id: ICD10:L60.5 +id: ICD10CM:L60.5 equivalent_to: MONDO:0007921 [Term] -id: ICD10:L73.1 +id: ICD10CM:L73.1 equivalent_to: MONDO:0012865 [Term] -id: ICD10:L82 +id: ICD10CM:L82 equivalent_to: MONDO:0008420 [Term] -id: ICD10:L82.0 +id: ICD10CM:L82.0 equivalent_to: MONDO:0001337 [Term] -id: ICD10:L88 +id: ICD10CM:L88 equivalent_to: MONDO:0018824 [Term] -id: ICD10:L90.0 +id: ICD10CM:L90.0 equivalent_to: MONDO:0007899 [Term] -id: ICD10:L90.3 +id: ICD10CM:L90.3 equivalent_to: MONDO:0022513 [Term] -id: ICD10:L93 +id: ICD10CM:L93 equivalent_to: MONDO:0004670 [Term] -id: ICD10:L93.0 +id: ICD10CM:L93.0 equivalent_to: MONDO:0019558 [Term] -id: ICD10:L93.1 +id: ICD10CM:L93.1 equivalent_to: MONDO:0015573 [Term] -id: ICD10:L94.6 +id: ICD10CM:L94.6 equivalent_to: MONDO:0007074 [Term] -id: ICD10:L95.0 +id: ICD10CM:L95.0 equivalent_to: MONDO:0025514 [Term] -id: ICD10:L95.1 +id: ICD10CM:L95.1 equivalent_to: MONDO:0019526 [Term] -id: ICD10:M10 +id: ICD10CM:M04-M04 +equivalent_to: MONDO:0019751 + +[Term] +id: ICD10CM:M10 equivalent_to: MONDO:0005393 [Term] -id: ICD10:M12.2 +id: ICD10CM:M12.2 equivalent_to: MONDO:0006906 [Term] -id: ICD10:M12.3 +id: ICD10CM:M12.3 equivalent_to: MONDO:0001332 [Term] -id: ICD10:M12.4 +id: ICD10CM:M12.4 equivalent_to: MONDO:0018015 [Term] -id: ICD10:M30.0 +id: ICD10CM:M30.0 equivalent_to: MONDO:0019170 [Term] -id: ICD10:M31.2 +id: ICD10CM:M31.2 equivalent_to: MONDO:0006828 [Term] -id: ICD10:M31.3 +id: ICD10CM:M31.3 equivalent_to: MONDO:0012105 [Term] -id: ICD10:M31.7 +id: ICD10CM:M31.7 equivalent_to: MONDO:0019124 [Term] -id: ICD10:M35.5 +id: ICD10CM:M35.5 equivalent_to: MONDO:0009230 [Term] -id: ICD10:M45 +id: ICD10CM:M45 equivalent_to: MONDO:0005306 [Term] -id: ICD10:M53.0 +id: ICD10CM:M53.0 equivalent_to: MONDO:0005663 [Term] -id: ICD10:M65.2 +id: ICD10CM:M65.2 equivalent_to: MONDO:0001903 [Term] -id: ICD10:M70.2 +id: ICD10CM:M70.2 equivalent_to: MONDO:0001557 [Term] -id: ICD10:M72.1 +id: ICD10CM:M72.1 equivalent_to: MONDO:0007865 [Term] -id: ICD10:M72.4 +id: ICD10CM:M72.4 equivalent_to: MONDO:0004187 [Term] -id: ICD10:M72.6 +id: ICD10CM:M72.6 equivalent_to: MONDO:0004835 [Term] -id: ICD10:M73.0 -equivalent_to: MONDO:0001719 - -[Term] -id: ICD10:M75.0 +id: ICD10CM:M75.0 equivalent_to: MONDO:0006763 [Term] -id: ICD10:M76.5 +id: ICD10CM:M76.5 equivalent_to: MONDO:0001042 [Term] -id: ICD10:M79.7 +id: ICD10CM:M79.7 equivalent_to: MONDO:0005546 [Term] -id: ICD10:M85.4 +id: ICD10CM:M85.4 equivalent_to: MONDO:0019372 [Term] -id: ICD10:N10 +id: ICD10CM:N10 equivalent_to: MONDO:0003529 [Term] -id: ICD10:N15.0 +id: ICD10CM:N15.0 equivalent_to: MONDO:0007416 [Term] -id: ICD10:N25.0 +id: ICD10CM:N25.0 equivalent_to: MONDO:0006946 [Term] -id: ICD10:N25.81 +id: ICD10CM:N25.81 equivalent_to: MONDO:0001530 [Term] -id: ICD10:N30.0 +id: ICD10CM:N30.0 equivalent_to: MONDO:0001650 [Term] -id: ICD10:N32.3 +id: ICD10CM:N32.3 equivalent_to: MONDO:0007197 [Term] -id: ICD10:N45.2 +id: ICD10CM:N45.2 equivalent_to: MONDO:0006882 [Term] -id: ICD10:N45.3 +id: ICD10CM:N45.3 equivalent_to: MONDO:0004778 [Term] -id: ICD10:N50.0 +id: ICD10CM:N50.0 equivalent_to: MONDO:0001415 [Term] -id: ICD10:N60.3 +id: ICD10CM:N60.3 equivalent_to: MONDO:0006118 [Term] -id: ICD10:N80.1 +id: ICD10CM:N80.1 equivalent_to: MONDO:0006337 [Term] -id: ICD10:N83.1 +id: ICD10CM:N83.1 equivalent_to: MONDO:0001625 [Term] -id: ICD10:O00.O08 +id: ICD10CM:O00-O08 equivalent_to: MONDO:0041526 [Term] -id: ICD10:O15 +id: ICD10CM:O15 equivalent_to: MONDO:0001754 [Term] -id: ICD10:O90.3 +id: ICD10CM:O90.3 equivalent_to: MONDO:0018920 [Term] -id: ICD10:P29.3 +id: ICD10CM:P00-P96 +equivalent_to: MONDO:0100086 + +[Term] +id: ICD10CM:P29.3 equivalent_to: MONDO:0009934 [Term] -id: ICD10:P35.0 +id: ICD10CM:P35.0 equivalent_to: MONDO:0017361 [Term] -id: ICD10:P37.1 +id: ICD10CM:P37.1 equivalent_to: MONDO:0005715 [Term] -id: ICD10:P37.5 +id: ICD10CM:P37.5 equivalent_to: MONDO:0004824 [Term] -id: ICD10:P53 +id: ICD10CM:P53 equivalent_to: MONDO:0006784 [Term] -id: ICD10:P57.0 +id: ICD10CM:P57.0 equivalent_to: MONDO:0006567 [Term] -id: ICD10:P70.2 +id: ICD10CM:P70.2 equivalent_to: MONDO:0016391 [Term] -id: ICD10:P83.4 +id: ICD10CM:P83.4 equivalent_to: MONDO:0001323 [Term] -id: ICD10:Q04.2 +id: ICD10CM:Q04.2 equivalent_to: MONDO:0016296 [Term] -id: ICD10:Q17.2 +id: ICD10CM:Q17.2 equivalent_to: MONDO:0010920 [Term] -id: ICD10:Q21.3 +id: ICD10CM:Q21.3 equivalent_to: MONDO:0008542 [Term] -id: ICD10:Q22.1 +id: ICD10CM:Q22.1 equivalent_to: MONDO:0017865 [Term] -id: ICD10:Q22.6 +id: ICD10CM:Q22.6 equivalent_to: MONDO:0020291 [Term] -id: ICD10:Q23.4 +id: ICD10CM:Q23.4 equivalent_to: MONDO:0004933 [Term] -id: ICD10:Q24.1 +id: ICD10CM:Q24.1 equivalent_to: MONDO:0019862 [Term] -id: ICD10:Q24.6 +id: ICD10CM:Q24.6 equivalent_to: MONDO:0009326 [Term] -id: ICD10:Q25.0 +id: ICD10CM:Q25.0 equivalent_to: MONDO:0011827 [Term] -id: ICD10:Q25.1 +id: ICD10CM:Q25.1 equivalent_to: MONDO:0007345 [Term] -id: ICD10:Q25.21 +id: ICD10CM:Q25.21 equivalent_to: MONDO:0009010 [Term] -id: ICD10:Q30.0 +id: ICD10CM:Q30.0 equivalent_to: MONDO:0012155 [Term] -id: ICD10:Q31.1 +id: ICD10CM:Q31.1 equivalent_to: MONDO:0015395 [Term] -id: ICD10:Q31.3 +id: ICD10CM:Q31.3 equivalent_to: MONDO:0016530 [Term] -id: ICD10:Q31.5 +id: ICD10CM:Q31.5 equivalent_to: MONDO:0007878 [Term] -id: ICD10:Q35.3 +id: ICD10CM:Q35.3 equivalent_to: MONDO:0007338 [Term] -id: ICD10:Q38.1 +id: ICD10CM:Q38.1 equivalent_to: MONDO:0007125 [Term] -id: ICD10:Q44.4 +id: ICD10CM:Q44.4 equivalent_to: MONDO:0018805 [Term] -id: ICD10:Q44.6 +id: ICD10CM:Q44.6 equivalent_to: MONDO:0000447 [Term] -id: ICD10:Q45.2 +id: ICD10CM:Q45.2 equivalent_to: MONDO:0017783 [Term] -id: ICD10:Q50.4 +id: ICD10CM:Q50.4 equivalent_to: MONDO:0024652 [Term] -id: ICD10:Q52.3 +id: ICD10CM:Q52.3 equivalent_to: MONDO:0009375 [Term] -id: ICD10:Q56 +id: ICD10CM:Q56 equivalent_to: MONDO:0024665 [Term] -id: ICD10:Q56.3 +id: ICD10CM:Q56.3 equivalent_to: MONDO:0005518 [Term] -id: ICD10:Q60.6 +id: ICD10CM:Q60.6 equivalent_to: MONDO:0001558 [Term] -id: ICD10:Q79.6 +id: ICD10CM:Q79.6 equivalent_to: MONDO:0020066 [Term] -id: ICD10:Q80 +id: ICD10CM:Q80 equivalent_to: MONDO:0015947 [Term] -id: ICD10:Q80.0 +id: ICD10CM:Q80.0 equivalent_to: MONDO:0007810 [Term] -id: ICD10:Q81.0 +id: ICD10CM:Q81.0 equivalent_to: MONDO:0017610 [Term] -id: ICD10:Q82.0 +id: ICD10CM:Q82.0 equivalent_to: MONDO:0019313 [Term] -id: ICD10:Q82.1 +id: ICD10CM:Q82.1 equivalent_to: MONDO:0019600 [Term] -id: ICD10:Q85.02 +id: ICD10CM:Q85.02 equivalent_to: MONDO:0007039 [Term] -id: ICD10:Q86.1 +id: ICD10CM:Q86.1 equivalent_to: MONDO:0016008 [Term] -id: ICD10:Q87.81 +id: ICD10CM:Q87.81 equivalent_to: MONDO:0018965 [Term] -id: ICD10:Q87.82 +id: ICD10CM:Q87.82 equivalent_to: MONDO:0008818 [Term] -id: ICD10:Q89.3 +id: ICD10CM:Q89.3 equivalent_to: MONDO:0010029 [Term] -id: ICD10:Q93.3 +id: ICD10CM:Q90-Q99 +equivalent_to: MONDO:0019040 + +[Term] +id: ICD10CM:Q93.3 equivalent_to: MONDO:0022762 [Term] -id: ICD10:Q93.51 +id: ICD10CM:Q93.51 equivalent_to: MONDO:0007113 [Term] -id: ICD10:T75.3 +id: ICD10CM:T20-T25 +equivalent_to: MONDO:0043519 + +[Term] +id: ICD10CM:T75.3 equivalent_to: MONDO:0008015 [Term] -id: ICD10:U07.1 +id: ICD10CM:T80-T88 +equivalent_to: MONDO:0043543 + +[Term] +id: ICD10CM:U07.1 equivalent_to: MONDO:0100096 [Term] @@ -34714,6 +34610,10 @@ equivalent_to: MONDO:0018903 id: ICD9:147.2 equivalent_to: MONDO:0015459 +[Term] +id: ICD9:156.0 +equivalent_to: MONDO:0005411 + [Term] id: ICD9:160.0 equivalent_to: MONDO:0001128 @@ -35406,6 +35306,10 @@ equivalent_to: MONDO:0006994 id: ICD9:356.2 equivalent_to: MONDO:0015364 +[Term] +id: ICD9:360.04 +equivalent_to: MONDO:0004862 + [Term] id: ICD9:360.13 equivalent_to: MONDO:0024315 @@ -35982,6 +35886,18 @@ equivalent_to: MONDO:0006011 id: ICD9:575.11 equivalent_to: MONDO:0002155 +[Term] +id: ICD9:575.3 +equivalent_to: MONDO:0004859 + +[Term] +id: ICD9:575.6 +equivalent_to: MONDO:0000987 + +[Term] +id: ICD9:575.9 +equivalent_to: MONDO:0005281 + [Term] id: ICD9:576.1 equivalent_to: MONDO:0004789 @@ -36818,10 +36734,6 @@ equivalent_to: MONDO:0008940 id: MESH:C535355 equivalent_to: MONDO:0011061 -[Term] -id: MESH:C535361 -equivalent_to: MONDO:0015430 - [Term] id: MESH:C535362 equivalent_to: MONDO:0011929 @@ -36830,10 +36742,6 @@ equivalent_to: MONDO:0011929 id: MESH:C535367 equivalent_to: MONDO:0016953 -[Term] -id: MESH:C535370 -equivalent_to: MONDO:0016898 - [Term] id: MESH:C535371 equivalent_to: MONDO:0016844 @@ -36978,10 +36886,6 @@ equivalent_to: MONDO:0008967 id: MESH:C535448 equivalent_to: MONDO:0008870 -[Term] -id: MESH:C535449 -equivalent_to: MONDO:0016911 - [Term] id: MESH:C535450 equivalent_to: MONDO:0022746 @@ -37034,10 +36938,6 @@ equivalent_to: MONDO:0022177 id: MESH:C535486 equivalent_to: MONDO:0022178 -[Term] -id: MESH:C535487 -equivalent_to: MONDO:0014708 - [Term] id: MESH:C535489 equivalent_to: MONDO:0015725 @@ -37070,10 +36970,6 @@ equivalent_to: MONDO:0009956 id: MESH:C535516 equivalent_to: MONDO:0007888 -[Term] -id: MESH:C535517 -equivalent_to: MONDO:0009958 - [Term] id: MESH:C535520 equivalent_to: MONDO:0007669 @@ -37202,10 +37098,6 @@ equivalent_to: MONDO:0015515 id: MESH:C535590 equivalent_to: MONDO:0017363 -[Term] -id: MESH:C535591 -equivalent_to: MONDO:0016883 - [Term] id: MESH:C535598 equivalent_to: MONDO:0010305 @@ -37290,10 +37182,6 @@ equivalent_to: MONDO:0010111 id: MESH:C535638 equivalent_to: MONDO:0009980 -[Term] -id: MESH:C535639 -equivalent_to: MONDO:0012324 - [Term] id: MESH:C535646 equivalent_to: MONDO:0023212 @@ -37950,10 +37838,6 @@ equivalent_to: MONDO:0008696 id: MESH:C536001 equivalent_to: MONDO:0008229 -[Term] -id: MESH:C536002 -equivalent_to: MONDO:0008068 - [Term] id: MESH:C536005 equivalent_to: MONDO:0013548 @@ -38126,10 +38010,6 @@ equivalent_to: MONDO:0010686 id: MESH:C536109 equivalent_to: MONDO:0009377 -[Term] -id: MESH:C536110 -equivalent_to: MONDO:0011977 - [Term] id: MESH:C536115 equivalent_to: MONDO:0012325 @@ -38458,10 +38338,6 @@ equivalent_to: MONDO:0012078 id: MESH:C536296 equivalent_to: MONDO:0012308 -[Term] -id: MESH:C536297 -equivalent_to: MONDO:0015607 - [Term] id: MESH:C536299 equivalent_to: MONDO:0009840 @@ -38526,10 +38402,6 @@ equivalent_to: MONDO:0011483 id: MESH:C536326 equivalent_to: MONDO:0008263 -[Term] -id: MESH:C536328 -equivalent_to: MONDO:0010856 - [Term] id: MESH:C536331 equivalent_to: MONDO:0008268 @@ -39162,10 +39034,6 @@ equivalent_to: MONDO:0000200 id: MESH:C536729 equivalent_to: MONDO:0010221 -[Term] -id: MESH:C536732 -equivalent_to: MONDO:0017010 - [Term] id: MESH:C536736 equivalent_to: MONDO:0008582 @@ -39238,10 +39106,6 @@ equivalent_to: MONDO:0008919 id: MESH:C536781 equivalent_to: MONDO:0011132 -[Term] -id: MESH:C536795 -equivalent_to: MONDO:0015438 - [Term] id: MESH:C536796 equivalent_to: MONDO:0019869 @@ -39562,10 +39426,6 @@ equivalent_to: MONDO:0023609 id: MESH:C537004 equivalent_to: MONDO:0009069 -[Term] -id: MESH:C537006 -equivalent_to: MONDO:0007887 - [Term] id: MESH:C537008 equivalent_to: MONDO:0009483 @@ -39710,14 +39570,6 @@ equivalent_to: MONDO:0010539 id: MESH:C537108 equivalent_to: MONDO:0018930 -[Term] -id: MESH:C537109 -equivalent_to: MONDO:0015437 - -[Term] -id: MESH:C537113 -equivalent_to: MONDO:0010641 - [Term] id: MESH:C537117 equivalent_to: MONDO:0012691 @@ -40150,10 +40002,6 @@ equivalent_to: MONDO:0008429 id: MESH:C537345 equivalent_to: MONDO:0008863 -[Term] -id: MESH:C537348 -equivalent_to: MONDO:0010881 - [Term] id: MESH:C537354 equivalent_to: MONDO:0012385 @@ -40610,18 +40458,10 @@ equivalent_to: MONDO:0009404 id: MESH:C537633 equivalent_to: MONDO:0009872 -[Term] -id: MESH:C537636 -equivalent_to: MONDO:0015439 - [Term] id: MESH:C537637 equivalent_to: MONDO:0022762 -[Term] -id: MESH:C537639 -equivalent_to: MONDO:0016903 - [Term] id: MESH:C537643 equivalent_to: MONDO:0015767 @@ -40630,10 +40470,6 @@ equivalent_to: MONDO:0015767 id: MESH:C537644 equivalent_to: MONDO:0016955 -[Term] -id: MESH:C537647 -equivalent_to: MONDO:0015571 - [Term] id: MESH:C537650 equivalent_to: MONDO:0016956 @@ -40652,7 +40488,7 @@ equivalent_to: MONDO:0011465 [Term] id: MESH:C537657 -equivalent_to: MONDO:0011692 +equivalent_to: MONDO:0024538 [Term] id: MESH:C537658 @@ -40806,10 +40642,6 @@ equivalent_to: MONDO:0009966 id: MESH:C537762 equivalent_to: MONDO:0019866 -[Term] -id: MESH:C537763 -equivalent_to: MONDO:0015440 - [Term] id: MESH:C537767 equivalent_to: MONDO:0010930 @@ -40870,10 +40702,6 @@ equivalent_to: MONDO:0023230 id: MESH:C537805 equivalent_to: MONDO:0009916 -[Term] -id: MESH:C537807 -equivalent_to: MONDO:0016905 - [Term] id: MESH:C537810 equivalent_to: MONDO:0019881 @@ -40886,10 +40714,6 @@ equivalent_to: MONDO:0016943 id: MESH:C537812 equivalent_to: MONDO:0016957 -[Term] -id: MESH:C537813 -equivalent_to: MONDO:0015441 - [Term] id: MESH:C537819 equivalent_to: MONDO:0016944 @@ -40902,22 +40726,6 @@ equivalent_to: MONDO:0016958 id: MESH:C537822 equivalent_to: MONDO:0015771 -[Term] -id: MESH:C537824 -equivalent_to: MONDO:0015443 - -[Term] -id: MESH:C537826 -equivalent_to: MONDO:0016890 - -[Term] -id: MESH:C537827 -equivalent_to: MONDO:0016658 - -[Term] -id: MESH:C537828 -equivalent_to: MONDO:0016907 - [Term] id: MESH:C537830 equivalent_to: MONDO:0009547 @@ -41094,10 +40902,6 @@ equivalent_to: MONDO:0019867 id: MESH:C537941 equivalent_to: MONDO:0016929 -[Term] -id: MESH:C537942 -equivalent_to: MONDO:0043452 - [Term] id: MESH:C537943 equivalent_to: MONDO:0012290 @@ -41238,10 +41042,6 @@ equivalent_to: MONDO:0017013 id: MESH:C538020 equivalent_to: MONDO:0015772 -[Term] -id: MESH:C538022 -equivalent_to: MONDO:0019905 - [Term] id: MESH:C538024 equivalent_to: MONDO:0008013 @@ -41258,10 +41058,6 @@ equivalent_to: MONDO:0018030 id: MESH:C538034 equivalent_to: MONDO:0015726 -[Term] -id: MESH:C538035 -equivalent_to: MONDO:0019908 - [Term] id: MESH:C538036 equivalent_to: MONDO:0015728 @@ -41270,10 +41066,6 @@ equivalent_to: MONDO:0015728 id: MESH:C538037 equivalent_to: MONDO:0015727 -[Term] -id: MESH:C538038 -equivalent_to: MONDO:0016913 - [Term] id: MESH:C538040 equivalent_to: MONDO:0016965 @@ -41294,10 +41086,6 @@ equivalent_to: MONDO:0015730 id: MESH:C538045 equivalent_to: MONDO:0022754 -[Term] -id: MESH:C538046 -equivalent_to: MONDO:0015433 - [Term] id: MESH:C538048 equivalent_to: MONDO:0016840 @@ -41374,10 +41162,6 @@ equivalent_to: MONDO:0007312 id: MESH:C538085 equivalent_to: MONDO:0043085 -[Term] -id: MESH:C538086 -equivalent_to: MONDO:0015431 - [Term] id: MESH:C538087 equivalent_to: MONDO:0019884 @@ -41698,18 +41482,10 @@ equivalent_to: MONDO:0019868 id: MESH:C538294 equivalent_to: MONDO:0019885 -[Term] -id: MESH:C538296 -equivalent_to: MONDO:0016910 - [Term] id: MESH:C538297 equivalent_to: MONDO:0022173 -[Term] -id: MESH:C538298 -equivalent_to: MONDO:0015432 - [Term] id: MESH:C538299 equivalent_to: MONDO:0015723 @@ -41726,14 +41502,6 @@ equivalent_to: MONDO:0022174 id: MESH:C538302 equivalent_to: MONDO:0022174 -[Term] -id: MESH:C538303 -equivalent_to: MONDO:0019907 - -[Term] -id: MESH:C538304 -equivalent_to: MONDO:0015434 - [Term] id: MESH:C538306 equivalent_to: MONDO:0013668 @@ -41750,22 +41518,10 @@ equivalent_to: MONDO:0016968 id: MESH:C538309 equivalent_to: MONDO:0007800 -[Term] -id: MESH:C538310 -equivalent_to: MONDO:0015435 - [Term] id: MESH:C538311 equivalent_to: MONDO:0016969 -[Term] -id: MESH:C538315 -equivalent_to: MONDO:0016901 - -[Term] -id: MESH:C538316 -equivalent_to: MONDO:0015566 - [Term] id: MESH:C538317 equivalent_to: MONDO:0010886 @@ -42090,10 +41846,6 @@ equivalent_to: MONDO:0009375 id: MESH:C562400 equivalent_to: MONDO:0007769 -[Term] -id: MESH:C562404 -equivalent_to: MONDO:0009930 - [Term] id: MESH:C562406 equivalent_to: MONDO:0007197 @@ -42162,10 +41914,6 @@ equivalent_to: MONDO:0008632 id: MESH:C562483 equivalent_to: MONDO:0007685 -[Term] -id: MESH:C562484 -equivalent_to: MONDO:0007692 - [Term] id: MESH:C562489 equivalent_to: MONDO:0009537 @@ -42690,10 +42438,6 @@ equivalent_to: MONDO:0007156 id: MESH:C563047 equivalent_to: MONDO:0007337 -[Term] -id: MESH:C563050 -equivalent_to: MONDO:0007716 - [Term] id: MESH:C563052 equivalent_to: MONDO:0009079 @@ -43906,10 +43650,6 @@ equivalent_to: MONDO:0010773 id: MESH:C564029 equivalent_to: MONDO:0010769 -[Term] -id: MESH:C564030 -equivalent_to: MONDO:0010767 - [Term] id: MESH:C564038 equivalent_to: MONDO:0018945 @@ -44462,10 +44202,6 @@ equivalent_to: MONDO:0010267 id: MESH:C564567 equivalent_to: MONDO:0010265 -[Term] -id: MESH:C564570 -equivalent_to: MONDO:0010263 - [Term] id: MESH:C564574 equivalent_to: MONDO:0010260 @@ -44850,10 +44586,6 @@ equivalent_to: MONDO:0009836 id: MESH:C564907 equivalent_to: MONDO:0009479 -[Term] -id: MESH:C564910 -equivalent_to: MONDO:0009829 - [Term] id: MESH:C564916 equivalent_to: MONDO:0009812 @@ -44958,10 +44690,6 @@ equivalent_to: MONDO:0009684 id: MESH:C564989 equivalent_to: MONDO:0007647 -[Term] -id: MESH:C564990 -equivalent_to: MONDO:0007645 - [Term] id: MESH:C564991 equivalent_to: MONDO:0007643 @@ -44978,10 +44706,6 @@ equivalent_to: MONDO:0007631 id: MESH:C565008 equivalent_to: MONDO:0007625 -[Term] -id: MESH:C565009 -equivalent_to: MONDO:0007622 - [Term] id: MESH:C565010 equivalent_to: MONDO:0007619 @@ -45034,10 +44758,6 @@ equivalent_to: MONDO:0013487 id: MESH:C565028 equivalent_to: MONDO:0007592 -[Term] -id: MESH:C565029 -equivalent_to: MONDO:0007591 - [Term] id: MESH:C565034 equivalent_to: MONDO:0007584 @@ -46430,18 +46150,10 @@ equivalent_to: MONDO:0008634 id: MESH:C566012 equivalent_to: MONDO:0008626 -[Term] -id: MESH:C566013 -equivalent_to: MONDO:0008625 - [Term] id: MESH:C566014 equivalent_to: MONDO:0008623 -[Term] -id: MESH:C566018 -equivalent_to: MONDO:0008616 - [Term] id: MESH:C566019 equivalent_to: MONDO:0008615 @@ -46698,10 +46410,6 @@ equivalent_to: MONDO:0007091 id: MESH:C566295 equivalent_to: MONDO:0007090 -[Term] -id: MESH:C566304 -equivalent_to: MONDO:0013538 - [Term] id: MESH:C566310 equivalent_to: MONDO:0007067 @@ -46950,10 +46658,6 @@ equivalent_to: MONDO:0012505 id: MESH:C566473 equivalent_to: MONDO:0012502 -[Term] -id: MESH:C566476 -equivalent_to: MONDO:0018216 - [Term] id: MESH:C566478 equivalent_to: MONDO:0012494 @@ -47026,10 +46730,6 @@ equivalent_to: MONDO:0011251 id: MESH:C566525 equivalent_to: MONDO:0011250 -[Term] -id: MESH:C566526 -equivalent_to: MONDO:0011248 - [Term] id: MESH:C566527 equivalent_to: MONDO:0011246 @@ -47298,10 +46998,6 @@ equivalent_to: MONDO:0008356 id: MESH:C566729 equivalent_to: MONDO:0013580 -[Term] -id: MESH:C566731 -equivalent_to: MONDO:0008351 - [Term] id: MESH:C566733 equivalent_to: MONDO:0008349 @@ -48682,10 +48378,6 @@ equivalent_to: MONDO:0012756 id: MESH:C579867 equivalent_to: MONDO:0017359 -[Term] -id: MESH:C579873 -equivalent_to: MONDO:0019179 - [Term] id: MESH:C579880 equivalent_to: MONDO:0020342 @@ -48754,10 +48446,6 @@ equivalent_to: MONDO:0010580 id: MESH:C580202 equivalent_to: MONDO:0008070 -[Term] -id: MESH:C580205 -equivalent_to: MONDO:0018027 - [Term] id: MESH:C580233 equivalent_to: MONDO:0016527 @@ -48770,10 +48458,6 @@ equivalent_to: MONDO:0007875 id: MESH:C580280 equivalent_to: MONDO:0018963 -[Term] -id: MESH:C580424 -equivalent_to: MONDO:0015436 - [Term] id: MESH:C580458 equivalent_to: MONDO:0011339 @@ -49214,6 +48898,10 @@ equivalent_to: MONDO:0006757 id: MESH:D001656 equivalent_to: MONDO:0008867 +[Term] +id: MESH:D001657 +equivalent_to: MONDO:0005667 + [Term] id: MESH:D001715 equivalent_to: MONDO:0024905 @@ -50118,6 +49806,10 @@ equivalent_to: MONDO:0009256 id: MESH:D005693 equivalent_to: MONDO:0018116 +[Term] +id: MESH:D005705 +equivalent_to: MONDO:0005281 + [Term] id: MESH:D005715 equivalent_to: MONDO:0011662 @@ -52602,6 +52294,10 @@ equivalent_to: MONDO:0042976 id: MESH:D014806 equivalent_to: MONDO:0020696 +[Term] +id: MESH:D014808 +equivalent_to: MONDO:0100471 + [Term] id: MESH:D014813 equivalent_to: MONDO:0001244 @@ -54070,6 +53766,10 @@ equivalent_to: MONDO:0006706 id: MESH:D040181 equivalent_to: MONDO:0000425 +[Term] +id: MESH:D041761 +equivalent_to: MONDO:0006698 + [Term] id: MESH:D041781 equivalent_to: MONDO:0006874 @@ -54086,6 +53786,10 @@ equivalent_to: MONDO:0005742 id: MESH:D042101 equivalent_to: MONDO:0006633 +[Term] +id: MESH:D042882 +equivalent_to: MONDO:0005346 + [Term] id: MESH:D043183 equivalent_to: MONDO:0005052 @@ -55397,6 +55101,10 @@ equivalent_to: EFO:1001362 equivalent_to: NCIT:C99090 equivalent_to: SCTID:73452002 +[Term] +id: MONDO:0000749 +equivalent_to: SCTID:28432003 + [Term] id: MONDO:0000758 equivalent_to: NCIT:C3477 @@ -55593,6 +55301,10 @@ equivalent_to: SCTID:22064009 id: MONDO:0000981 equivalent_to: SCTID:187059008 +[Term] +id: MONDO:0000987 +equivalent_to: SCTID:61565001 + [Term] id: MONDO:0000989 equivalent_to: EFO:0007383 @@ -57222,6 +56934,10 @@ id: MONDO:0002509 equivalent_to: NCIT:C27162 equivalent_to: SCTID:50390006 +[Term] +id: MONDO:0002518 +equivalent_to: NCIT:C7130 + [Term] id: MONDO:0002520 equivalent_to: Orphanet:95157 @@ -57322,6 +57038,10 @@ equivalent_to: NCIT:C38157 id: MONDO:0002634 equivalent_to: NCIT:C7598 +[Term] +id: MONDO:0002667 +equivalent_to: NCIT:C5745 + [Term] id: MONDO:0002687 equivalent_to: EFO:1001201 @@ -57410,6 +57130,14 @@ id: MONDO:0002817 equivalent_to: NCIT:C9338 equivalent_to: SCTID:127021009 +[Term] +id: MONDO:0002856 +equivalent_to: NCIT:C5839 + +[Term] +id: MONDO:0002857 +equivalent_to: NCIT:C5736 + [Term] id: MONDO:0002858 equivalent_to: NCIT:C5236 @@ -57531,6 +57259,10 @@ id: MONDO:0003019 equivalent_to: NCIT:C34939 equivalent_to: SCTID:43339004 +[Term] +id: MONDO:0003026 +equivalent_to: NCIT:C5840 + [Term] id: MONDO:0003027 equivalent_to: NCIT:C6043 @@ -57670,6 +57402,12 @@ id: MONDO:0003212 equivalent_to: NCIT:C9336 equivalent_to: SCTID:448990005 +[Term] +id: MONDO:0003220 +equivalent_to: EFO:1001956 +equivalent_to: NCIT:C3844 +equivalent_to: SCTID:372140005 + [Term] id: MONDO:0003231 equivalent_to: SCTID:14535005 @@ -57749,6 +57487,14 @@ equivalent_to: SCTID:61960001 id: MONDO:0003282 equivalent_to: SCTID:79883001 +[Term] +id: MONDO:0003297 +equivalent_to: NCIT:C5747 + +[Term] +id: MONDO:0003303 +equivalent_to: NCIT:C5746 + [Term] id: MONDO:0003307 equivalent_to: NCIT:C6559 @@ -57787,6 +57533,10 @@ id: MONDO:0003355 equivalent_to: EFO:0006718 equivalent_to: NCIT:C5234 +[Term] +id: MONDO:0003364 +equivalent_to: NCIT:C5841 + [Term] id: MONDO:0003381 equivalent_to: NCIT:C26854 @@ -58591,6 +58341,10 @@ equivalent_to: NCIT:C6100 id: MONDO:0004066 equivalent_to: NCIT:C6118 +[Term] +id: MONDO:0004067 +equivalent_to: NCIT:C5744 + [Term] id: MONDO:0004069 equivalent_to: Orphanet:68380 @@ -58607,6 +58361,10 @@ equivalent_to: NCIT:C7451 id: MONDO:0004076 equivalent_to: NCIT:C6499 +[Term] +id: MONDO:0004077 +equivalent_to: NCIT:C6500 + [Term] id: MONDO:0004082 equivalent_to: NCIT:C6547 @@ -58693,6 +58451,10 @@ equivalent_to: NCIT:C9499 id: MONDO:0004142 equivalent_to: NCIT:C7267 +[Term] +id: MONDO:0004148 +equivalent_to: NCIT:C5743 + [Term] id: MONDO:0004161 equivalent_to: NCIT:C40165 @@ -58974,6 +58736,10 @@ id: MONDO:0004463 equivalent_to: NCIT:C41237 equivalent_to: ONCOTREE:PMFPES +[Term] +id: MONDO:0004474 +equivalent_to: NCIT:C5734 + [Term] id: MONDO:0004477 equivalent_to: NCIT:C7646 @@ -59421,6 +59187,18 @@ id: MONDO:0004857 equivalent_to: NCIT:C97141 equivalent_to: SCTID:34840004 +[Term] +id: MONDO:0004858 +equivalent_to: SCTID:197416005 + +[Term] +id: MONDO:0004859 +equivalent_to: SCTID:47312008 + +[Term] +id: MONDO:0004862 +equivalent_to: SCTID:48142003 + [Term] id: MONDO:0004864 equivalent_to: SCTID:8326008 @@ -59957,6 +59735,13 @@ equivalent_to: NCIT:C2872 equivalent_to: Orphanet:98826 equivalent_to: SCTID:109996008 +[Term] +id: MONDO:0005281 +equivalent_to: EFO:0003832 +equivalent_to: NCIT:C34631 +equivalent_to: OMIMPS:600803 +equivalent_to: SCTID:39621005 + [Term] id: MONDO:0005282 equivalent_to: EFO:0003834 @@ -60056,6 +59841,11 @@ equivalent_to: EFO:0004197 equivalent_to: NCIT:C3097 equivalent_to: SCTID:66071002 +[Term] +id: MONDO:0005346 +equivalent_to: EFO:0004210 +equivalent_to: SCTID:235919008 + [Term] id: MONDO:0005347 equivalent_to: EFO:0004211 @@ -60145,6 +59935,13 @@ equivalent_to: EFO:0004593 equivalent_to: NCIT:C34942 equivalent_to: SCTID:11687002 +[Term] +id: MONDO:0005411 +equivalent_to: EFO:0004606 +equivalent_to: NCIT:C7481 +equivalent_to: ONCOTREE:GBC +equivalent_to: SCTID:363353009 + [Term] id: MONDO:0005412 equivalent_to: EFO:0004607 @@ -60590,6 +60387,11 @@ equivalent_to: EFO:0007166 equivalent_to: NCIT:C84586 equivalent_to: SCTID:266123003 +[Term] +id: MONDO:0005667 +equivalent_to: EFO:0007169 +equivalent_to: SCTID:197432008 + [Term] id: MONDO:0005669 equivalent_to: EFO:0007171 @@ -62075,11 +61877,32 @@ id: MONDO:0006201 equivalent_to: EFO:1000246 equivalent_to: NCIT:C6238 +[Term] +id: MONDO:0006215 +equivalent_to: EFO:1000262 +equivalent_to: NCIT:C9166 + +[Term] +id: MONDO:0006217 +equivalent_to: EFO:1000264 +equivalent_to: NCIT:C7356 +equivalent_to: ONCOTREE:GBASC + +[Term] +id: MONDO:0006218 +equivalent_to: EFO:1000265 +equivalent_to: NCIT:C43606 + [Term] id: MONDO:0006219 equivalent_to: EFO:1000266 equivalent_to: NCIT:C6763 +[Term] +id: MONDO:0006220 +equivalent_to: EFO:1000267 +equivalent_to: NCIT:C9170 + [Term] id: MONDO:0006227 equivalent_to: EFO:1000275 @@ -62375,6 +62198,11 @@ equivalent_to: EFO:1000596 equivalent_to: NCIT:C8461 equivalent_to: SCTID:281702006 +[Term] +id: MONDO:0006476 +equivalent_to: EFO:1000604 +equivalent_to: NCIT:C9167 + [Term] id: MONDO:0006477 equivalent_to: EFO:1000605 @@ -62558,11 +62386,6 @@ id: MONDO:0006581 equivalent_to: EFO:1000735 equivalent_to: SCTID:44279002 -[Term] -id: MONDO:0006588 -equivalent_to: EFO:1000743 -equivalent_to: SCTID:716105001 - [Term] id: MONDO:0006591 equivalent_to: EFO:1000746 @@ -62705,6 +62528,10 @@ equivalent_to: NCIT:C62545 equivalent_to: Orphanet:353253 equivalent_to: SCTID:399165002 +[Term] +id: MONDO:0006698 +equivalent_to: EFO:1000864 + [Term] id: MONDO:0006701 equivalent_to: EFO:1000867 @@ -63625,14 +63452,6 @@ equivalent_to: OMIM:107200 equivalent_to: Orphanet:88620 equivalent_to: SCTID:230502003 -[Term] -id: MONDO:0007139 -equivalent_to: OMIM:107290 - -[Term] -id: MONDO:0007141 -equivalent_to: OMIM:107440 - [Term] id: MONDO:0007142 equivalent_to: NCIT:C99085 @@ -64093,10 +63912,6 @@ equivalent_to: OMIM:118420 equivalent_to: Orphanet:268882 equivalent_to: SCTID:253185002 -[Term] -id: MONDO:0007317 -equivalent_to: OMIM:118430 - [Term] id: MONDO:0007318 equivalent_to: NCIT:C35139 @@ -64146,10 +63961,6 @@ equivalent_to: NCIT:C84411 equivalent_to: OMIM:215600 equivalent_to: SCTID:6183001 -[Term] -id: MONDO:0007331 -equivalent_to: OMIM:119000 - [Term] id: MONDO:0007332 equivalent_to: OMIM:119100 @@ -64808,10 +64619,6 @@ equivalent_to: OMIM:130200 id: MONDO:0007531 equivalent_to: OMIM:130300 -[Term] -id: MONDO:0007532 -equivalent_to: OMIM:130400 - [Term] id: MONDO:0007534 equivalent_to: NCIT:C34415 @@ -65008,10 +64815,6 @@ equivalent_to: Orphanet:3023 id: MONDO:0007589 equivalent_to: OMIM:133780 -[Term] -id: MONDO:0007591 -equivalent_to: OMIM:134000 - [Term] id: MONDO:0007592 equivalent_to: OMIM:134200 @@ -65114,10 +64917,6 @@ equivalent_to: OMIM:136120 equivalent_to: Orphanet:79292 equivalent_to: SCTID:238092004 -[Term] -id: MONDO:0007622 -equivalent_to: OMIM:136150 - [Term] id: MONDO:0007623 equivalent_to: OMIM:136200 @@ -65178,10 +64977,6 @@ id: MONDO:0007644 equivalent_to: NCIT:C123434 equivalent_to: OMIM:137100 -[Term] -id: MONDO:0007645 -equivalent_to: OMIM:137130 - [Term] id: MONDO:0007646 equivalent_to: OMIM:137200 @@ -65348,11 +65143,6 @@ id: MONDO:0007691 equivalent_to: OMIM:139393 equivalent_to: SCTID:716723000 -[Term] -id: MONDO:0007692 -equivalent_to: OMIM:139500 -equivalent_to: SCTID:89000008 - [Term] id: MONDO:0007693 equivalent_to: OMIM:139600 @@ -65430,12 +65220,6 @@ equivalent_to: SCTID:733046006 id: MONDO:0007715 equivalent_to: OMIM:141700 -[Term] -id: MONDO:0007716 -equivalent_to: OMIM:141750 -equivalent_to: Orphanet:98791 -equivalent_to: SCTID:277918006 - [Term] id: MONDO:0007717 equivalent_to: OMIM:142309 @@ -65783,14 +65567,6 @@ equivalent_to: OMIM:147251 equivalent_to: Orphanet:2287 equivalent_to: SCTID:707796002 -[Term] -id: MONDO:0007822 -equivalent_to: OMIM:147300 - -[Term] -id: MONDO:0007823 -equivalent_to: OMIM:147320 - [Term] id: MONDO:0007824 equivalent_to: OMIM:147330 @@ -66062,10 +65838,6 @@ equivalent_to: OMIM:150699 equivalent_to: ONCOTREE:ULM equivalent_to: SCTID:95315005 -[Term] -id: MONDO:0007887 -equivalent_to: OMIM:150700 - [Term] id: MONDO:0007888 equivalent_to: NCIT:C51302 @@ -66452,6 +66224,7 @@ equivalent_to: SCTID:724137002 id: MONDO:0008009 equivalent_to: NCIT:C84894 equivalent_to: OMIM:158000 +equivalent_to: OMIM:252200 equivalent_to: Orphanet:573 equivalent_to: SCTID:69488000 @@ -66637,10 +66410,6 @@ equivalent_to: OMIM:161530 id: MONDO:0008067 equivalent_to: OMIM:161550 -[Term] -id: MONDO:0008068 -equivalent_to: OMIM:161600 - [Term] id: MONDO:0008069 equivalent_to: OMIM:161700 @@ -66789,10 +66558,6 @@ equivalent_to: OMIM:164180 equivalent_to: Orphanet:1647 equivalent_to: SCTID:403554008 -[Term] -id: MONDO:0008110 -equivalent_to: OMIM:164190 - [Term] id: MONDO:0008111 equivalent_to: OMIM:164200 @@ -66929,12 +66694,6 @@ equivalent_to: SCTID:721082002 id: MONDO:0008160 equivalent_to: OMIM:166740 -[Term] -id: MONDO:0008161 -equivalent_to: OMIM:166750 -equivalent_to: Orphanet:2791 -equivalent_to: SCTID:707310009 - [Term] id: MONDO:0008164 equivalent_to: OMIM:166800 @@ -67509,10 +67268,6 @@ id: MONDO:0008325 equivalent_to: OMIM:177350 equivalent_to: SCTID:238840009 -[Term] -id: MONDO:0008326 -equivalent_to: OMIM:177600 - [Term] id: MONDO:0008327 equivalent_to: EFO:0004235 @@ -67578,10 +67333,6 @@ equivalent_to: OMIM:178650 id: MONDO:0008350 equivalent_to: OMIM:178651 -[Term] -id: MONDO:0008351 -equivalent_to: OMIM:178800 - [Term] id: MONDO:0008352 equivalent_to: OMIM:178900 @@ -67653,6 +67404,7 @@ id: MONDO:0008375 equivalent_to: EFO:0005773 equivalent_to: NCIT:C26874 equivalent_to: OMIM:180050 +equivalent_to: OMIM:312530 equivalent_to: SCTID:42059000 [Term] @@ -67729,10 +67481,6 @@ equivalent_to: OMIM:181270 equivalent_to: Orphanet:2036 equivalent_to: SCTID:721888002 -[Term] -id: MONDO:0008405 -equivalent_to: OMIM:181300 - [Term] id: MONDO:0008407 equivalent_to: OMIM:181400 @@ -67805,10 +67553,6 @@ equivalent_to: OMIM:182255 id: MONDO:0008431 equivalent_to: OMIM:182260 -[Term] -id: MONDO:0008432 -equivalent_to: OMIM:182270 - [Term] id: MONDO:0008433 equivalent_to: EFO:0000702 @@ -68150,10 +67894,6 @@ equivalent_to: OMIM:187501 id: MONDO:0008545 equivalent_to: OMIM:187550 -[Term] -id: MONDO:0008548 -equivalent_to: OMIM:187650 - [Term] id: MONDO:0008549 equivalent_to: OMIM:187750 @@ -68171,11 +67911,6 @@ id: MONDO:0008556 equivalent_to: OMIM:188020 equivalent_to: SCTID:48788004 -[Term] -id: MONDO:0008557 -equivalent_to: OMIM:188025 -equivalent_to: Orphanet:851 - [Term] id: MONDO:0008559 equivalent_to: OMIM:188050 @@ -68372,10 +68107,6 @@ id: MONDO:0008615 equivalent_to: OMIM:191200 equivalent_to: SCTID:55647004 -[Term] -id: MONDO:0008616 -equivalent_to: OMIM:191250 - [Term] id: MONDO:0008622 equivalent_to: OMIM:191482 @@ -68392,10 +68123,6 @@ equivalent_to: OMIM:191520 equivalent_to: Orphanet:3408 equivalent_to: SCTID:719041000 -[Term] -id: MONDO:0008625 -equivalent_to: OMIM:191530 - [Term] id: MONDO:0008626 equivalent_to: OMIM:191550 @@ -68565,10 +68292,6 @@ equivalent_to: OMIM:193700 equivalent_to: Orphanet:2053 equivalent_to: SCTID:52616002 -[Term] -id: MONDO:0008677 -equivalent_to: OMIM:194000 - [Term] id: MONDO:0008678 equivalent_to: NCIT:C85232 @@ -68834,6 +68557,7 @@ equivalent_to: Orphanet:79432 [Term] id: MONDO:0008747 equivalent_to: OMIM:203290 +equivalent_to: OMIM:278400 equivalent_to: Orphanet:79433 equivalent_to: SCTID:63450009 @@ -69718,6 +69442,7 @@ equivalent_to: Orphanet:1454 [Term] id: MONDO:0008998 +equivalent_to: OMIM:216411 equivalent_to: Orphanet:90324 [Term] @@ -70156,10 +69881,6 @@ equivalent_to: OMIM:223370 equivalent_to: Orphanet:235 equivalent_to: SCTID:2593002 -[Term] -id: MONDO:0009125 -equivalent_to: OMIM:223380 - [Term] id: MONDO:0009127 equivalent_to: OMIM:223500 @@ -70612,10 +70333,6 @@ equivalent_to: OMIM:229600 equivalent_to: Orphanet:469 equivalent_to: SCTID:20052008 -[Term] -id: MONDO:0009250 -equivalent_to: OMIM:229650 - [Term] id: MONDO:0009251 equivalent_to: NCIT:C128119 @@ -71828,10 +71545,6 @@ equivalent_to: OMIM:248300 equivalent_to: Orphanet:87503 equivalent_to: SCTID:239069005 -[Term] -id: MONDO:0009553 -equivalent_to: OMIM:248310 - [Term] id: MONDO:0009555 equivalent_to: OMIM:248350 @@ -72853,10 +72566,6 @@ equivalent_to: OMIM:260130 id: MONDO:0009828 equivalent_to: OMIM:260150 -[Term] -id: MONDO:0009829 -equivalent_to: OMIM:260200 - [Term] id: MONDO:0009830 equivalent_to: OMIM:260300 @@ -73263,13 +72972,6 @@ id: MONDO:0009929 equivalent_to: OMIM:265120 equivalent_to: Orphanet:217563 -[Term] -id: MONDO:0009930 -equivalent_to: NCIT:C99029 -equivalent_to: OMIM:265140 -equivalent_to: Orphanet:2038 -equivalent_to: SCTID:303070000 - [Term] id: MONDO:0009931 equivalent_to: NCIT:C99032 @@ -73391,6 +73093,7 @@ equivalent_to: OMIM:266400 [Term] id: MONDO:0009958 +equivalent_to: MedDRA:10038275 equivalent_to: OMIM:266500 equivalent_to: OMIM:600964 equivalent_to: Orphanet:773 @@ -73818,6 +73521,7 @@ equivalent_to: SCTID:367368009 [Term] id: MONDO:0010091 equivalent_to: OMIM:272430 +equivalent_to: OMIM:601378 equivalent_to: Orphanet:1545 equivalent_to: SCTID:725097006 @@ -73982,7 +73686,6 @@ equivalent_to: SCTID:63127008 id: MONDO:0010138 equivalent_to: EFO:0009190 equivalent_to: NCIT:C61469 -equivalent_to: OMIM:275000 equivalent_to: SCTID:90739004 [Term] @@ -74425,12 +74128,6 @@ equivalent_to: OMIM:300158 id: MONDO:0010262 equivalent_to: OMIM:300184 -[Term] -id: MONDO:0010263 -equivalent_to: OMIM:300194 -equivalent_to: Orphanet:86818 -equivalent_to: SCTID:720982007 - [Term] id: MONDO:0010264 equivalent_to: NCIT:C123725 @@ -74622,10 +74319,6 @@ equivalent_to: OMIM:300489 equivalent_to: Orphanet:139557 equivalent_to: SCTID:766764008 -[Term] -id: MONDO:0010348 -equivalent_to: OMIM:300509 - [Term] id: MONDO:0010349 equivalent_to: OMIM:300510 @@ -74834,6 +74527,7 @@ equivalent_to: SCTID:722212004 [Term] id: MONDO:0010439 equivalent_to: OMIM:300829 +equivalent_to: OMIM:606163 [Term] id: MONDO:0010442 @@ -74966,10 +74660,6 @@ equivalent_to: Orphanet:504530 id: MONDO:0010515 equivalent_to: OMIM:300989 -[Term] -id: MONDO:0010516 -equivalent_to: OMIM:300990 - [Term] id: MONDO:0010517 equivalent_to: OMIM:300991 @@ -75413,11 +75103,6 @@ equivalent_to: OMIM:308750 id: MONDO:0010640 equivalent_to: OMIM:308905 -[Term] -id: MONDO:0010641 -equivalent_to: OMIM:308940 -equivalent_to: Orphanet:1018 - [Term] id: MONDO:0010642 equivalent_to: OMIM:308950 @@ -75575,10 +75260,6 @@ equivalent_to: OMIM:311300 equivalent_to: Orphanet:90650 equivalent_to: SCTID:54036001 -[Term] -id: MONDO:0010705 -equivalent_to: OMIM:311350 - [Term] id: MONDO:0010706 equivalent_to: OMIM:311360 @@ -75734,10 +75415,6 @@ equivalent_to: OMIM:314570 id: MONDO:0010760 equivalent_to: OMIM:314800 -[Term] -id: MONDO:0010763 -equivalent_to: OMIM:400042 - [Term] id: MONDO:0010764 equivalent_to: OMIM:400043 @@ -75749,10 +75426,6 @@ equivalent_to: OMIMPS:400044 equivalent_to: Orphanet:242 equivalent_to: SCTID:95218005 -[Term] -id: MONDO:0010767 -equivalent_to: OMIM:415000 - [Term] id: MONDO:0010768 equivalent_to: NCIT:C3754 @@ -76020,10 +75693,6 @@ equivalent_to: OMIM:600195 equivalent_to: Orphanet:2451 equivalent_to: SCTID:699301008 -[Term] -id: MONDO:0010843 -equivalent_to: OMIM:600202 - [Term] id: MONDO:0010846 equivalent_to: OMIM:600209 @@ -76064,12 +75733,6 @@ equivalent_to: OMIM:600268 equivalent_to: Orphanet:3339 equivalent_to: SCTID:723554006 -[Term] -id: MONDO:0010856 -equivalent_to: OMIM:600273 -equivalent_to: Orphanet:88924 -equivalent_to: SCTID:765331004 - [Term] id: MONDO:0010857 equivalent_to: OMIM:600274 @@ -76164,12 +75827,6 @@ equivalent_to: SCTID:717772000 id: MONDO:0010880 equivalent_to: OMIM:600376 -[Term] -id: MONDO:0010881 -equivalent_to: OMIM:600383 -equivalent_to: Orphanet:2496 -equivalent_to: SCTID:724147004 - [Term] id: MONDO:0010884 equivalent_to: OMIM:600416 @@ -76402,9 +76059,11 @@ equivalent_to: SCTID:722053001 [Term] id: MONDO:0010962 +equivalent_to: EFO:1000743 equivalent_to: OMIM:600962 equivalent_to: Orphanet:496 equivalent_to: Orphanet:530838 +equivalent_to: SCTID:716105001 [Term] id: MONDO:0010970 @@ -77270,12 +76929,6 @@ equivalent_to: Orphanet:280671 id: MONDO:0011247 equivalent_to: OMIM:602551 -[Term] -id: MONDO:0011248 -equivalent_to: OMIM:602553 -equivalent_to: Orphanet:1590 -equivalent_to: SCTID:763527007 - [Term] id: MONDO:0011250 equivalent_to: OMIM:602555 @@ -77790,10 +77443,6 @@ equivalent_to: OMIM:604250 equivalent_to: Orphanet:225123 equivalent_to: SCTID:719974003 -[Term] -id: MONDO:0011418 -equivalent_to: OMIM:604254 - [Term] id: MONDO:0011419 equivalent_to: OMIM:604257 @@ -78247,10 +77896,6 @@ equivalent_to: OMIM:605407 equivalent_to: Orphanet:101150 equivalent_to: SCTID:715827001 -[Term] -id: MONDO:0011554 -equivalent_to: OMIM:605429 - [Term] id: MONDO:0011556 equivalent_to: OMIM:605462 @@ -78676,18 +78321,10 @@ id: MONDO:0011688 equivalent_to: OMIM:606612 equivalent_to: Orphanet:52428 -[Term] -id: MONDO:0011689 -equivalent_to: OMIM:606616 - [Term] id: MONDO:0011690 equivalent_to: OMIM:606631 -[Term] -id: MONDO:0011692 -equivalent_to: OMIM:606656 - [Term] id: MONDO:0011694 equivalent_to: OMIM:606658 @@ -78851,10 +78488,6 @@ equivalent_to: OMIM:606894 id: MONDO:0011746 equivalent_to: OMIM:606895 -[Term] -id: MONDO:0011747 -equivalent_to: OMIM:606896 - [Term] id: MONDO:0011748 equivalent_to: OMIM:606943 @@ -79507,12 +79140,6 @@ equivalent_to: OMIM:608154 equivalent_to: Orphanet:50811 equivalent_to: SCTID:721973006 -[Term] -id: MONDO:0011977 -equivalent_to: OMIM:608156 -equivalent_to: Orphanet:178303 -equivalent_to: SCTID:719664004 - [Term] id: MONDO:0011978 equivalent_to: OMIM:608158 @@ -80045,10 +79672,6 @@ equivalent_to: SCTID:717940006 id: MONDO:0012166 equivalent_to: OMIM:608984 -[Term] -id: MONDO:0012168 -equivalent_to: OMIM:608995 - [Term] id: MONDO:0012169 equivalent_to: OMIM:608996 @@ -80534,12 +80157,6 @@ id: MONDO:0012323 equivalent_to: OMIM:609638 equivalent_to: Orphanet:158687 -[Term] -id: MONDO:0012324 -equivalent_to: OMIM:609640 -equivalent_to: Orphanet:2055 -equivalent_to: Orphanet:264200 - [Term] id: MONDO:0012325 equivalent_to: OMIM:609643 @@ -83335,6 +82952,7 @@ equivalent_to: SCTID:73975000 [Term] id: MONDO:0013363 equivalent_to: OMIM:613681 +equivalent_to: Orphanet:294026 [Term] id: MONDO:0013364 @@ -83752,10 +83370,6 @@ id: MONDO:0013536 equivalent_to: OMIM:614034 equivalent_to: Orphanet:562509 -[Term] -id: MONDO:0013538 -equivalent_to: OMIM:614036 - [Term] id: MONDO:0013539 equivalent_to: OMIM:614037 @@ -83914,10 +83528,6 @@ equivalent_to: Orphanet:456318 id: MONDO:0013585 equivalent_to: OMIM:614120 -[Term] -id: MONDO:0013586 -equivalent_to: OMIM:614122 - [Term] id: MONDO:0013587 equivalent_to: OMIM:614128 @@ -84041,7 +83651,6 @@ equivalent_to: OMIM:614204 equivalent_to: Orphanet:163931 equivalent_to: Orphanet:247353 equivalent_to: Orphanet:404546 -equivalent_to: SCTID:238612002 equivalent_to: SCTID:83839005 [Term] @@ -84454,10 +84063,6 @@ equivalent_to: SCTID:733519008 id: MONDO:0013798 equivalent_to: OMIM:614541 -[Term] -id: MONDO:0013799 -equivalent_to: OMIM:614546 - [Term] id: MONDO:0013800 equivalent_to: OMIM:614557 @@ -84773,7 +84378,6 @@ equivalent_to: OMIM:614832 [Term] id: MONDO:0013907 -equivalent_to: OMIM:614833 equivalent_to: Orphanet:208447 [Term] @@ -84802,6 +84406,7 @@ equivalent_to: OMIM:614840 [Term] id: MONDO:0013914 +equivalent_to: OMIM:227200 equivalent_to: OMIM:614841 [Term] @@ -85240,10 +84845,6 @@ equivalent_to: OMIM:615119 id: MONDO:0014052 equivalent_to: OMIM:615120 -[Term] -id: MONDO:0014053 -equivalent_to: OMIM:615121 - [Term] id: MONDO:0014054 equivalent_to: OMIM:615122 @@ -85729,10 +85330,6 @@ id: MONDO:0014218 equivalent_to: OMIM:615508 equivalent_to: Orphanet:369992 -[Term] -id: MONDO:0014220 -equivalent_to: OMIM:615511 - [Term] id: MONDO:0014221 equivalent_to: NCIT:C131652 @@ -85824,11 +85421,6 @@ id: MONDO:0014252 equivalent_to: OMIM:615558 equivalent_to: SCTID:60193003 -[Term] -id: MONDO:0014253 -equivalent_to: NCIT:C39577 -equivalent_to: OMIM:615559 - [Term] id: MONDO:0014255 equivalent_to: OMIM:615561 @@ -86577,6 +86169,7 @@ equivalent_to: Orphanet:438114 [Term] id: MONDO:0014507 +equivalent_to: OMIM:302380 equivalent_to: OMIM:616145 equivalent_to: Orphanet:1388 equivalent_to: SCTID:722383001 @@ -87136,12 +86729,6 @@ id: MONDO:0014707 equivalent_to: OMIM:616604 equivalent_to: Orphanet:488280 -[Term] -id: MONDO:0014708 -equivalent_to: OMIM:616606 -equivalent_to: Orphanet:1440 -equivalent_to: SCTID:702345009 - [Term] id: MONDO:0014711 equivalent_to: OMIM:616625 @@ -87177,6 +86764,7 @@ equivalent_to: SCTID:715374003 [Term] id: MONDO:0014722 +equivalent_to: OMIM:300258 equivalent_to: OMIM:616651 equivalent_to: Orphanet:353298 @@ -87527,10 +87115,6 @@ equivalent_to: Orphanet:488632 id: MONDO:0014825 equivalent_to: OMIM:616902 -[Term] -id: MONDO:0014826 -equivalent_to: OMIM:616903 - [Term] id: MONDO:0014827 equivalent_to: EFO:0009019 @@ -87645,6 +87229,7 @@ equivalent_to: Orphanet:420702 [Term] id: MONDO:0014866 +equivalent_to: OMIM:616233 equivalent_to: OMIM:617017 equivalent_to: Orphanet:443950 @@ -88345,10 +87930,6 @@ id: MONDO:0015150 equivalent_to: Orphanet:102013 equivalent_to: SCTID:230261006 -[Term] -id: MONDO:0015153 -equivalent_to: Orphanet:102020 - [Term] id: MONDO:0015158 equivalent_to: Orphanet:102237 @@ -88629,6 +88210,7 @@ equivalent_to: SCTID:719267003 [Term] id: MONDO:0015350 +equivalent_to: OMIM:618874 equivalent_to: Orphanet:139474 equivalent_to: SCTID:719583002 @@ -88886,76 +88468,6 @@ id: MONDO:0015428 equivalent_to: Orphanet:1433 equivalent_to: SCTID:720850008 -[Term] -id: MONDO:0015430 -equivalent_to: NCIT:C36474 -equivalent_to: Orphanet:1437 -equivalent_to: SCTID:47017007 - -[Term] -id: MONDO:0015431 -equivalent_to: Orphanet:1438 -equivalent_to: SCTID:86997002 - -[Term] -id: MONDO:0015432 -equivalent_to: Orphanet:1439 - -[Term] -id: MONDO:0015433 -equivalent_to: Orphanet:1441 - -[Term] -id: MONDO:0015434 -equivalent_to: EFO:0001226 -equivalent_to: Orphanet:1442 -equivalent_to: SCTID:88154004 - -[Term] -id: MONDO:0015435 -equivalent_to: Orphanet:1443 -equivalent_to: SCTID:765484001 - -[Term] -id: MONDO:0015436 -equivalent_to: NCIT:C169001 -equivalent_to: Orphanet:1444 -equivalent_to: SCTID:23686004 - -[Term] -id: MONDO:0015437 -equivalent_to: Orphanet:1445 -equivalent_to: SCTID:31325007 - -[Term] -id: MONDO:0015438 -equivalent_to: Orphanet:1446 -equivalent_to: SCTID:13555004 - -[Term] -id: MONDO:0015439 -equivalent_to: NCIT:C121983 -equivalent_to: Orphanet:1447 -equivalent_to: SCTID:81678004 - -[Term] -id: MONDO:0015440 -equivalent_to: NCIT:C121985 -equivalent_to: Orphanet:1448 -equivalent_to: SCTID:765488003 - -[Term] -id: MONDO:0015441 -equivalent_to: NCIT:C121986 -equivalent_to: Orphanet:1449 -equivalent_to: SCTID:765489006 - -[Term] -id: MONDO:0015443 -equivalent_to: NCIT:C121988 -equivalent_to: Orphanet:1450 -equivalent_to: SCTID:715983001 - [Term] id: MONDO:0015445 equivalent_to: Orphanet:1455 @@ -89174,10 +88686,6 @@ equivalent_to: NCIT:C114471 equivalent_to: Orphanet:158061 equivalent_to: SCTID:430478003 -[Term] -id: MONDO:0015546 -equivalent_to: Orphanet:1581 - [Term] id: MONDO:0015547 equivalent_to: Orphanet:158124 @@ -89207,11 +88715,6 @@ id: MONDO:0015553 equivalent_to: Orphanet:158676 equivalent_to: SCTID:722436002 -[Term] -id: MONDO:0015562 -equivalent_to: Orphanet:1597 -equivalent_to: SCTID:715365000 - [Term] id: MONDO:0015564 equivalent_to: EFO:1001332 @@ -89219,11 +88722,6 @@ equivalent_to: NCIT:C3056 equivalent_to: Orphanet:160 equivalent_to: SCTID:207036003 -[Term] -id: MONDO:0015566 -equivalent_to: Orphanet:1617 -equivalent_to: SCTID:719658006 - [Term] id: MONDO:0015568 equivalent_to: Orphanet:162516 @@ -89236,11 +88734,6 @@ equivalent_to: Orphanet:162521 id: MONDO:0015570 equivalent_to: Orphanet:162526 -[Term] -id: MONDO:0015571 -equivalent_to: Orphanet:1627 -equivalent_to: SCTID:721158009 - [Term] id: MONDO:0015573 equivalent_to: NCIT:C117111 @@ -89251,16 +88744,6 @@ equivalent_to: SCTID:239891002 id: MONDO:0015574 equivalent_to: Orphanet:163531 -[Term] -id: MONDO:0015580 -equivalent_to: Orphanet:1636 -equivalent_to: SCTID:763529005 - -[Term] -id: MONDO:0015583 -equivalent_to: Orphanet:163693 -equivalent_to: SCTID:719652007 - [Term] id: MONDO:0015589 equivalent_to: NCIT:C4350 @@ -89299,16 +88782,6 @@ id: MONDO:0015605 equivalent_to: Orphanet:1642 equivalent_to: SCTID:763530000 -[Term] -id: MONDO:0015606 -equivalent_to: Orphanet:1643 -equivalent_to: SCTID:726733007 - -[Term] -id: MONDO:0015607 -equivalent_to: Orphanet:1646 -equivalent_to: SCTID:717158001 - [Term] id: MONDO:0015609 equivalent_to: OMIMPS:604348 @@ -90575,6 +90048,7 @@ equivalent_to: Orphanet:217566 [Term] id: MONDO:0016331 +equivalent_to: OMIM:236490 equivalent_to: Orphanet:2176 equivalent_to: SCTID:238867003 @@ -90781,11 +90255,6 @@ id: MONDO:0016458 equivalent_to: Orphanet:228399 equivalent_to: SCTID:719684000 -[Term] -id: MONDO:0016459 -equivalent_to: Orphanet:228402 -equivalent_to: SCTID:719657001 - [Term] id: MONDO:0016461 equivalent_to: Orphanet:228415 @@ -91018,6 +90487,7 @@ equivalent_to: SCTID:703231005 [Term] id: MONDO:0016526 equivalent_to: Orphanet:236 +equivalent_to: Orphanet:262767 [Term] id: MONDO:0016527 @@ -91272,41 +90742,6 @@ equivalent_to: SCTID:766719006 id: MONDO:0016651 equivalent_to: Orphanet:251009 -[Term] -id: MONDO:0016652 -equivalent_to: Orphanet:251014 -equivalent_to: SCTID:716387004 - -[Term] -id: MONDO:0016653 -equivalent_to: Orphanet:251028 -equivalent_to: SCTID:763062006 - -[Term] -id: MONDO:0016654 -equivalent_to: NCIT:C121984 -equivalent_to: Orphanet:251043 -equivalent_to: SCTID:765487008 - -[Term] -id: MONDO:0016655 -equivalent_to: Orphanet:251046 -equivalent_to: SCTID:719662000 - -[Term] -id: MONDO:0016656 -equivalent_to: Orphanet:251061 - -[Term] -id: MONDO:0016657 -equivalent_to: Orphanet:251066 -equivalent_to: SCTID:719646006 - -[Term] -id: MONDO:0016658 -equivalent_to: Orphanet:251071 -equivalent_to: SCTID:716381003 - [Term] id: MONDO:0016659 equivalent_to: Orphanet:251076 @@ -91387,11 +90822,6 @@ id: MONDO:0016760 equivalent_to: Orphanet:2528 equivalent_to: SCTID:715464002 -[Term] -id: MONDO:0016765 -equivalent_to: Orphanet:254346 -equivalent_to: SCTID:719597005 - [Term] id: MONDO:0016777 equivalent_to: Orphanet:254504 @@ -91582,11 +91012,6 @@ equivalent_to: SCTID:717050005 id: MONDO:0016832 equivalent_to: Orphanet:261102 -[Term] -id: MONDO:0016833 -equivalent_to: Orphanet:261144 -equivalent_to: SCTID:719574007 - [Term] id: MONDO:0016834 equivalent_to: Orphanet:261204 @@ -91596,21 +91021,11 @@ equivalent_to: SCTID:733518000 id: MONDO:0016835 equivalent_to: Orphanet:261229 -[Term] -id: MONDO:0016836 -equivalent_to: Orphanet:261236 -equivalent_to: SCTID:719577000 - [Term] id: MONDO:0016837 equivalent_to: Orphanet:261243 equivalent_to: SCTID:719578005 -[Term] -id: MONDO:0016838 -equivalent_to: Orphanet:261250 -equivalent_to: SCTID:719580004 - [Term] id: MONDO:0016839 equivalent_to: Orphanet:261257 @@ -91621,30 +91036,11 @@ id: MONDO:0016840 equivalent_to: Orphanet:261290 equivalent_to: SCTID:717049005 -[Term] -id: MONDO:0016841 -equivalent_to: Orphanet:261295 -equivalent_to: SCTID:719650004 - -[Term] -id: MONDO:0016842 -equivalent_to: Orphanet:261304 -equivalent_to: SCTID:724070005 - -[Term] -id: MONDO:0016843 -equivalent_to: Orphanet:261311 -equivalent_to: SCTID:733520002 - [Term] id: MONDO:0016844 equivalent_to: Orphanet:261318 equivalent_to: SCTID:111311004 -[Term] -id: MONDO:0016845 -equivalent_to: Orphanet:261323 - [Term] id: MONDO:0016846 equivalent_to: Orphanet:261337 @@ -91660,11 +91056,6 @@ id: MONDO:0016848 equivalent_to: Orphanet:26137 equivalent_to: SCTID:722020006 -[Term] -id: MONDO:0016850 -equivalent_to: Orphanet:261501 -equivalent_to: SCTID:733626002 - [Term] id: MONDO:0016851 equivalent_to: Orphanet:261519 @@ -91673,11 +91064,6 @@ equivalent_to: Orphanet:261519 id: MONDO:0016852 equivalent_to: Orphanet:261524 -[Term] -id: MONDO:0016853 -equivalent_to: Orphanet:261529 -equivalent_to: SCTID:763407008 - [Term] id: MONDO:0016854 equivalent_to: Orphanet:261534 @@ -91723,198 +91109,6 @@ equivalent_to: Orphanet:261638 id: MONDO:0016864 equivalent_to: Orphanet:261647 -[Term] -id: MONDO:0016866 -equivalent_to: Orphanet:261766 - -[Term] -id: MONDO:0016867 -equivalent_to: Orphanet:261771 - -[Term] -id: MONDO:0016868 -equivalent_to: Orphanet:261776 - -[Term] -id: MONDO:0016869 -equivalent_to: Orphanet:261781 - -[Term] -id: MONDO:0016870 -equivalent_to: Orphanet:261786 - -[Term] -id: MONDO:0016871 -equivalent_to: Orphanet:261791 - -[Term] -id: MONDO:0016872 -equivalent_to: Orphanet:261796 - -[Term] -id: MONDO:0016873 -equivalent_to: Orphanet:261801 - -[Term] -id: MONDO:0016874 -equivalent_to: Orphanet:261806 - -[Term] -id: MONDO:0016875 -equivalent_to: Orphanet:261811 - -[Term] -id: MONDO:0016876 -equivalent_to: Orphanet:261816 - -[Term] -id: MONDO:0016877 -equivalent_to: Orphanet:261821 - -[Term] -id: MONDO:0016878 -equivalent_to: Orphanet:261826 - -[Term] -id: MONDO:0016879 -equivalent_to: Orphanet:261831 - -[Term] -id: MONDO:0016880 -equivalent_to: Orphanet:261836 - -[Term] -id: MONDO:0016881 -equivalent_to: Orphanet:261841 - -[Term] -id: MONDO:0016882 -equivalent_to: Orphanet:261846 - -[Term] -id: MONDO:0016883 -equivalent_to: NCIT:C36501 -equivalent_to: Orphanet:261857 - -[Term] -id: MONDO:0016884 -equivalent_to: Orphanet:261866 - -[Term] -id: MONDO:0016885 -equivalent_to: Orphanet:261875 - -[Term] -id: MONDO:0016887 -equivalent_to: Orphanet:261893 - -[Term] -id: MONDO:0016888 -equivalent_to: Orphanet:261902 - -[Term] -id: MONDO:0016889 -equivalent_to: Orphanet:261911 - -[Term] -id: MONDO:0016890 -equivalent_to: Orphanet:261920 - -[Term] -id: MONDO:0016892 -equivalent_to: Orphanet:261938 - -[Term] -id: MONDO:0016893 -equivalent_to: Orphanet:261947 - -[Term] -id: MONDO:0016894 -equivalent_to: Orphanet:261956 - -[Term] -id: MONDO:0016897 -equivalent_to: Orphanet:261983 - -[Term] -id: MONDO:0016898 -equivalent_to: Orphanet:261992 - -[Term] -id: MONDO:0016901 -equivalent_to: Orphanet:262010 - -[Term] -id: MONDO:0016902 -equivalent_to: Orphanet:262019 - -[Term] -id: MONDO:0016903 -equivalent_to: Orphanet:262029 - -[Term] -id: MONDO:0016904 -equivalent_to: Orphanet:262038 - -[Term] -id: MONDO:0016905 -equivalent_to: Orphanet:262047 - -[Term] -id: MONDO:0016906 -equivalent_to: NCIT:C36408 -equivalent_to: Orphanet:262056 - -[Term] -id: MONDO:0016907 -equivalent_to: Orphanet:262065 - -[Term] -id: MONDO:0016908 -equivalent_to: Orphanet:262074 - -[Term] -id: MONDO:0016909 -equivalent_to: Orphanet:262083 - -[Term] -id: MONDO:0016910 -equivalent_to: NCIT:C37312 -equivalent_to: Orphanet:262092 - -[Term] -id: MONDO:0016911 -equivalent_to: NCIT:C36497 -equivalent_to: Orphanet:262101 - -[Term] -id: MONDO:0016912 -equivalent_to: Orphanet:262110 - -[Term] -id: MONDO:0016913 -equivalent_to: Orphanet:262119 - -[Term] -id: MONDO:0016914 -equivalent_to: Orphanet:262128 - -[Term] -id: MONDO:0016915 -equivalent_to: Orphanet:262137 - -[Term] -id: MONDO:0016917 -equivalent_to: Orphanet:262155 - -[Term] -id: MONDO:0016918 -equivalent_to: Orphanet:262164 - -[Term] -id: MONDO:0016919 -equivalent_to: Orphanet:262173 - [Term] id: MONDO:0016921 equivalent_to: Orphanet:262191 @@ -92024,10 +91218,6 @@ equivalent_to: Orphanet:262749 id: MONDO:0016945 equivalent_to: Orphanet:262758 -[Term] -id: MONDO:0016946 -equivalent_to: Orphanet:262767 - [Term] id: MONDO:0016947 equivalent_to: Orphanet:262776 @@ -92089,14 +91279,6 @@ equivalent_to: Orphanet:262905 id: MONDO:0016961 equivalent_to: Orphanet:262914 -[Term] -id: MONDO:0016962 -equivalent_to: Orphanet:262923 - -[Term] -id: MONDO:0016963 -equivalent_to: Orphanet:262932 - [Term] id: MONDO:0016964 equivalent_to: Orphanet:262941 @@ -92156,54 +91338,6 @@ id: MONDO:0016994 equivalent_to: Orphanet:2636 equivalent_to: SCTID:725461009 -[Term] -id: MONDO:0016998 -equivalent_to: Orphanet:263708 - -[Term] -id: MONDO:0016999 -equivalent_to: Orphanet:263714 - -[Term] -id: MONDO:0017002 -equivalent_to: Orphanet:263723 - -[Term] -id: MONDO:0017003 -equivalent_to: Orphanet:263726 - -[Term] -id: MONDO:0017004 -equivalent_to: Orphanet:263731 - -[Term] -id: MONDO:0017005 -equivalent_to: Orphanet:263746 - -[Term] -id: MONDO:0017006 -equivalent_to: Orphanet:263749 - -[Term] -id: MONDO:0017007 -equivalent_to: Orphanet:263756 - -[Term] -id: MONDO:0017008 -equivalent_to: Orphanet:263768 - -[Term] -id: MONDO:0017009 -equivalent_to: Orphanet:263775 - -[Term] -id: MONDO:0017010 -equivalent_to: Orphanet:263783 - -[Term] -id: MONDO:0017011 -equivalent_to: Orphanet:263793 - [Term] id: MONDO:0017012 equivalent_to: Orphanet:264431 @@ -92239,10 +91373,6 @@ equivalent_to: SCTID:405288003 id: MONDO:0017054 equivalent_to: Orphanet:268184 -[Term] -id: MONDO:0017056 -equivalent_to: Orphanet:268261 - [Term] id: MONDO:0017058 equivalent_to: Orphanet:268337 @@ -92572,10 +91702,6 @@ id: MONDO:0017276 equivalent_to: NCIT:C84719 equivalent_to: Orphanet:282 -[Term] -id: MONDO:0017277 -equivalent_to: Orphanet:282124 - [Term] id: MONDO:0017278 equivalent_to: NCIT:C129726 @@ -92597,10 +91723,6 @@ id: MONDO:0017282 equivalent_to: Orphanet:284 equivalent_to: SCTID:21009004 -[Term] -id: MONDO:0017283 -equivalent_to: Orphanet:284169 - [Term] id: MONDO:0017284 equivalent_to: Orphanet:284180 @@ -92735,11 +91857,6 @@ id: MONDO:0017332 equivalent_to: EFO:0009009 equivalent_to: Orphanet:289478 -[Term] -id: MONDO:0017334 -equivalent_to: Orphanet:289513 -equivalent_to: SCTID:734030009 - [Term] id: MONDO:0017335 equivalent_to: Orphanet:289522 @@ -92894,11 +92011,6 @@ equivalent_to: SCTID:716667005 id: MONDO:0017404 equivalent_to: Orphanet:293939 -[Term] -id: MONDO:0017405 -equivalent_to: Orphanet:293948 -equivalent_to: SCTID:719600006 - [Term] id: MONDO:0017406 equivalent_to: Orphanet:293967 @@ -92923,10 +92035,6 @@ id: MONDO:0017411 equivalent_to: OMIMPS:614328 equivalent_to: Orphanet:294023 -[Term] -id: MONDO:0017412 -equivalent_to: Orphanet:294026 - [Term] id: MONDO:0017413 equivalent_to: EFO:0002319 @@ -93525,10 +92633,6 @@ id: MONDO:0017779 equivalent_to: Orphanet:3137 equivalent_to: SCTID:238048001 -[Term] -id: MONDO:0017780 -equivalent_to: Orphanet:313781 - [Term] id: MONDO:0017781 equivalent_to: Orphanet:313884 @@ -93598,11 +92702,6 @@ id: MONDO:0017810 equivalent_to: Orphanet:314652 equivalent_to: SCTID:722292000 -[Term] -id: MONDO:0017811 -equivalent_to: Orphanet:314655 -equivalent_to: SCTID:768555009 - [Term] id: MONDO:0017814 equivalent_to: NCIT:C6620 @@ -94117,11 +93216,6 @@ id: MONDO:0018026 equivalent_to: Orphanet:3305 equivalent_to: SCTID:726363000 -[Term] -id: MONDO:0018027 -equivalent_to: Orphanet:3306 -equivalent_to: SCTID:723332005 - [Term] id: MONDO:0018028 equivalent_to: Orphanet:3309 @@ -94379,10 +93473,6 @@ equivalent_to: NCIT:C67235 equivalent_to: Orphanet:352540 equivalent_to: SCTID:392559009 -[Term] -id: MONDO:0018127 -equivalent_to: Orphanet:352629 - [Term] id: MONDO:0018129 equivalent_to: Orphanet:352641 @@ -94393,10 +93483,6 @@ id: MONDO:0018130 equivalent_to: Orphanet:352649 equivalent_to: SCTID:717942003 -[Term] -id: MONDO:0018131 -equivalent_to: Orphanet:352665 - [Term] id: MONDO:0018133 equivalent_to: Orphanet:352723 @@ -94474,10 +93560,6 @@ equivalent_to: NCIT:C129933 equivalent_to: Orphanet:35689 equivalent_to: SCTID:81211007 -[Term] -id: MONDO:0018156 -equivalent_to: Orphanet:356947 - [Term] id: MONDO:0018158 equivalent_to: OMIMPS:603041 @@ -94562,10 +93644,6 @@ equivalent_to: SCTID:763888005 id: MONDO:0018185 equivalent_to: Orphanet:363189 -[Term] -id: MONDO:0018186 -equivalent_to: Orphanet:363203 - [Term] id: MONDO:0018187 equivalent_to: Orphanet:363294 @@ -94598,10 +93676,6 @@ id: MONDO:0018205 equivalent_to: Orphanet:36367 equivalent_to: SCTID:717633007 -[Term] -id: MONDO:0018207 -equivalent_to: Orphanet:363680 - [Term] id: MONDO:0018208 equivalent_to: Orphanet:363700 @@ -94628,11 +93702,6 @@ id: MONDO:0018215 equivalent_to: Orphanet:36388 equivalent_to: SCTID:192877007 -[Term] -id: MONDO:0018216 -equivalent_to: Orphanet:363958 -equivalent_to: SCTID:717338006 - [Term] id: MONDO:0018218 equivalent_to: Orphanet:363969 @@ -94659,14 +93728,6 @@ equivalent_to: SCTID:75316000 id: MONDO:0018244 equivalent_to: Orphanet:369873 -[Term] -id: MONDO:0018245 -equivalent_to: Orphanet:369881 - -[Term] -id: MONDO:0018246 -equivalent_to: Orphanet:369886 - [Term] id: MONDO:0018247 equivalent_to: Orphanet:369942 @@ -94824,10 +93885,6 @@ equivalent_to: SCTID:733422008 id: MONDO:0018340 equivalent_to: Orphanet:397692 -[Term] -id: MONDO:0018341 -equivalent_to: Orphanet:397695 - [Term] id: MONDO:0018342 equivalent_to: Orphanet:397715 @@ -94950,14 +94007,6 @@ equivalent_to: Orphanet:401901 id: MONDO:0018426 equivalent_to: Orphanet:401911 -[Term] -id: MONDO:0018428 -equivalent_to: Orphanet:401923 - -[Term] -id: MONDO:0018429 -equivalent_to: Orphanet:401935 - [Term] id: MONDO:0018431 equivalent_to: Orphanet:401993 @@ -95047,10 +94096,6 @@ equivalent_to: OMIM:617347 equivalent_to: Orphanet:412 equivalent_to: SCTID:398796005 -[Term] -id: MONDO:0018474 -equivalent_to: Orphanet:412035 - [Term] id: MONDO:0018475 equivalent_to: Orphanet:412066 @@ -95172,10 +94217,6 @@ equivalent_to: NCIT:C3155 equivalent_to: Orphanet:43393 equivalent_to: SCTID:56989000 -[Term] -id: MONDO:0018564 -equivalent_to: Orphanet:435638 - [Term] id: MONDO:0018567 equivalent_to: Orphanet:435819 @@ -95318,14 +94359,6 @@ equivalent_to: OMIMPS:120435 equivalent_to: Orphanet:443909 equivalent_to: SCTID:315058005 -[Term] -id: MONDO:0018632 -equivalent_to: Orphanet:444002 - -[Term] -id: MONDO:0018633 -equivalent_to: Orphanet:444051 - [Term] id: MONDO:0018634 equivalent_to: NCIT:C84555 @@ -95439,7 +94472,6 @@ equivalent_to: Orphanet:453510 id: MONDO:0018690 equivalent_to: EFO:0004126 equivalent_to: NCIT:C34357 -equivalent_to: OMIM:103100 equivalent_to: Orphanet:454718 equivalent_to: SCTID:24225004 @@ -95458,10 +94490,6 @@ equivalent_to: SCTID:55604004 id: MONDO:0018696 equivalent_to: Orphanet:454887 -[Term] -id: MONDO:0018697 -equivalent_to: Orphanet:456298 - [Term] id: MONDO:0018698 equivalent_to: Orphanet:456333 @@ -95556,6 +94584,7 @@ equivalent_to: Orphanet:467166 [Term] id: MONDO:0018764 +equivalent_to: OMIM:614833 equivalent_to: Orphanet:468631 [Term] @@ -96448,11 +95477,6 @@ equivalent_to: NCIT:C4036 equivalent_to: Orphanet:75564 equivalent_to: SCTID:109998009 -[Term] -id: MONDO:0019164 -equivalent_to: Orphanet:75857 -equivalent_to: SCTID:719666002 - [Term] id: MONDO:0019165 equivalent_to: OMIMPS:176400 @@ -96518,11 +95542,6 @@ equivalent_to: SCTID:722064003 id: MONDO:0019178 equivalent_to: Orphanet:77300 -[Term] -id: MONDO:0019179 -equivalent_to: Orphanet:77301 -equivalent_to: SCTID:724098008 - [Term] id: MONDO:0019180 equivalent_to: NCIT:C35064 @@ -97842,11 +96861,6 @@ id: MONDO:0019780 equivalent_to: Orphanet:93976 equivalent_to: SCTID:57436000 -[Term] -id: MONDO:0019784 -equivalent_to: Orphanet:94063 -equivalent_to: SCTID:719046005 - [Term] id: MONDO:0019788 equivalent_to: Orphanet:94080 @@ -98187,90 +97201,6 @@ id: MONDO:0019890 equivalent_to: Orphanet:96112 equivalent_to: SCTID:764997000 -[Term] -id: MONDO:0019891 -equivalent_to: NCIT:C36461 -equivalent_to: Orphanet:96123 - -[Term] -id: MONDO:0019892 -equivalent_to: Orphanet:96126 - -[Term] -id: MONDO:0019893 -equivalent_to: Orphanet:96129 - -[Term] -id: MONDO:0019895 -equivalent_to: Orphanet:96145 - -[Term] -id: MONDO:0019896 -equivalent_to: Orphanet:96147 - -[Term] -id: MONDO:0019897 -equivalent_to: Orphanet:96149 - -[Term] -id: MONDO:0019898 -equivalent_to: Orphanet:96150 - -[Term] -id: MONDO:0019899 -equivalent_to: Orphanet:96152 - -[Term] -id: MONDO:0019900 -equivalent_to: Orphanet:96160 - -[Term] -id: MONDO:0019901 -equivalent_to: Orphanet:96164 - -[Term] -id: MONDO:0019902 -equivalent_to: Orphanet:96168 -equivalent_to: SCTID:766716004 - -[Term] -id: MONDO:0019903 -equivalent_to: NCIT:C121981 -equivalent_to: Orphanet:96171 -equivalent_to: SCTID:765485000 - -[Term] -id: MONDO:0019904 -equivalent_to: NCIT:C121982 -equivalent_to: Orphanet:96172 -equivalent_to: SCTID:765486004 - -[Term] -id: MONDO:0019905 -equivalent_to: Orphanet:96173 -equivalent_to: SCTID:60650002 - -[Term] -id: MONDO:0019906 -equivalent_to: EFO:0002849 -equivalent_to: Orphanet:96175 -equivalent_to: SCTID:111310003 - -[Term] -id: MONDO:0019907 -equivalent_to: Orphanet:96176 -equivalent_to: SCTID:726723004 - -[Term] -id: MONDO:0019908 -equivalent_to: Orphanet:96177 -equivalent_to: SCTID:763405000 - -[Term] -id: MONDO:0019909 -equivalent_to: Orphanet:96178 -equivalent_to: SCTID:763406004 - [Term] id: MONDO:0019910 equivalent_to: Orphanet:96179 @@ -98511,11 +97441,6 @@ equivalent_to: SCTID:722004001 id: MONDO:0020049 equivalent_to: Orphanet:98127 -[Term] -id: MONDO:0020050 -equivalent_to: Orphanet:98130 -equivalent_to: SCTID:429442006 - [Term] id: MONDO:0020051 equivalent_to: Orphanet:98131 @@ -98524,49 +97449,11 @@ equivalent_to: Orphanet:98131 id: MONDO:0020052 equivalent_to: Orphanet:98132 -[Term] -id: MONDO:0020053 -equivalent_to: Orphanet:98141 - -[Term] -id: MONDO:0020054 -equivalent_to: Orphanet:98142 - -[Term] -id: MONDO:0020055 -equivalent_to: Orphanet:98152 - -[Term] -id: MONDO:0020056 -equivalent_to: Orphanet:98153 -equivalent_to: SCTID:726401004 - -[Term] -id: MONDO:0020057 -equivalent_to: Orphanet:98154 -equivalent_to: SCTID:726402006 - [Term] id: MONDO:0020058 equivalent_to: Orphanet:98155 equivalent_to: SCTID:95462004 -[Term] -id: MONDO:0020059 -equivalent_to: Orphanet:98156 - -[Term] -id: MONDO:0020060 -equivalent_to: Orphanet:98157 - -[Term] -id: MONDO:0020061 -equivalent_to: Orphanet:98158 - -[Term] -id: MONDO:0020062 -equivalent_to: Orphanet:98159 - [Term] id: MONDO:0020064 equivalent_to: Orphanet:982 @@ -99018,10 +97905,6 @@ id: MONDO:0020493 equivalent_to: Orphanet:99803 equivalent_to: SCTID:719972004 -[Term] -id: MONDO:0020494 -equivalent_to: Orphanet:99806 - [Term] id: MONDO:0020495 equivalent_to: OMIM:617507 @@ -99376,10 +98259,6 @@ equivalent_to: OMIMPS:176670 id: MONDO:0020733 equivalent_to: OMIM:185800 -[Term] -id: MONDO:0020734 -equivalent_to: OMIM:612874 - [Term] id: MONDO:0020735 equivalent_to: OMIM:219080 @@ -99902,6 +98781,10 @@ equivalent_to: SCTID:277155005 id: MONDO:0021237 equivalent_to: NCIT:C4856 +[Term] +id: MONDO:0021253 +equivalent_to: NCIT:C3048 + [Term] id: MONDO:0021281 equivalent_to: NCIT:C4921 @@ -100021,6 +98904,11 @@ id: MONDO:0021498 equivalent_to: NCIT:C8545 equivalent_to: SCTID:92297008 +[Term] +id: MONDO:0021503 +equivalent_to: NCIT:C4440 +equivalent_to: SCTID:92117002 + [Term] id: MONDO:0021511 equivalent_to: NCIT:C3629 @@ -100242,6 +99130,10 @@ equivalent_to: SCTID:71785001 id: MONDO:0022013 equivalent_to: SCTID:19995004 +[Term] +id: MONDO:0022018 +equivalent_to: OMIM:211170 + [Term] id: MONDO:0022034 equivalent_to: EFO:1001357 @@ -100263,11 +99155,19 @@ equivalent_to: SCTID:109441000119102 id: MONDO:0022140 equivalent_to: SCTID:193756007 +[Term] +id: MONDO:0022173 +equivalent_to: Orphanet:262923 + [Term] id: MONDO:0022174 equivalent_to: NCIT:C36410 equivalent_to: Orphanet:316244 +[Term] +id: MONDO:0022177 +equivalent_to: Orphanet:262932 + [Term] id: MONDO:0022180 equivalent_to: NCIT:C37866 @@ -100346,6 +99246,14 @@ equivalent_to: EFO:0008611 id: MONDO:0022642 equivalent_to: NCIT:C118810 +[Term] +id: MONDO:0022673 +equivalent_to: OMIM:601286 + +[Term] +id: MONDO:0022714 +equivalent_to: OMIM:176010 + [Term] id: MONDO:0022715 equivalent_to: SCTID:253186001 @@ -100477,6 +99385,10 @@ equivalent_to: EFO:1000421 equivalent_to: NCIT:C6261 equivalent_to: SCTID:254863004 +[Term] +id: MONDO:0023288 +equivalent_to: OMIM:601446 + [Term] id: MONDO:0023305 equivalent_to: EFO:1001518 @@ -100504,6 +99416,10 @@ equivalent_to: NCIT:C125711 id: MONDO:0023540 equivalent_to: Orphanet:1137 +[Term] +id: MONDO:0023563 +equivalent_to: OMIM:203285 + [Term] id: MONDO:0023597 equivalent_to: SCTID:232457008 @@ -100552,6 +99468,10 @@ equivalent_to: OMIM:619369 id: MONDO:0023670 equivalent_to: OMIM:619471 +[Term] +id: MONDO:0023696 +equivalent_to: OMIM:248810 + [Term] id: MONDO:0023880 equivalent_to: OMIMPS:193670 @@ -100787,6 +99707,10 @@ equivalent_to: Orphanet:101334 equivalent_to: Orphanet:83313 equivalent_to: SCTID:186774005 +[Term] +id: MONDO:0024502 +equivalent_to: NCIT:C96917 + [Term] id: MONDO:0024503 equivalent_to: NCIT:C27721 @@ -100842,6 +99766,7 @@ equivalent_to: OMIM:202200 id: MONDO:0024538 equivalent_to: NCIT:C129973 equivalent_to: OMIM:213600 +equivalent_to: OMIM:606656 [Term] id: MONDO:0024540 @@ -101196,10 +100121,6 @@ equivalent_to: OMIM:301045 id: MONDO:0026767 equivalent_to: OMIM:301051 -[Term] -id: MONDO:0026768 -equivalent_to: OMIM:301052 - [Term] id: MONDO:0026771 equivalent_to: OMIM:301044 @@ -101358,10 +100279,6 @@ equivalent_to: OMIM:618870 id: MONDO:0030030 equivalent_to: OMIM:618872 -[Term] -id: MONDO:0030032 -equivalent_to: OMIM:618874 - [Term] id: MONDO:0030033 equivalent_to: OMIM:618875 @@ -101862,10 +100779,6 @@ equivalent_to: OMIM:619147 id: MONDO:0030895 equivalent_to: OMIM:619155 -[Term] -id: MONDO:0030896 -equivalent_to: OMIM:619148 - [Term] id: MONDO:0030897 equivalent_to: OMIM:619149 @@ -103706,10 +102619,6 @@ equivalent_to: OMIM:618977 id: MONDO:0033551 equivalent_to: OMIM:618982 -[Term] -id: MONDO:0033552 -equivalent_to: OMIM:618983 - [Term] id: MONDO:0033554 equivalent_to: OMIM:618986 @@ -104397,6 +103306,10 @@ equivalent_to: SCTID:124343001 id: MONDO:0043187 equivalent_to: SCTID:86252004 +[Term] +id: MONDO:0043195 +equivalent_to: OMIM:180850 + [Term] id: MONDO:0043209 equivalent_to: NCIT:C84543 @@ -104425,11 +103338,6 @@ id: MONDO:0043275 equivalent_to: NCIT:C98609 equivalent_to: SCTID:41679006 -[Term] -id: MONDO:0043277 -equivalent_to: NCIT:C36475 -equivalent_to: SCTID:205647005 - [Term] id: MONDO:0043287 equivalent_to: NCIT:C3396 @@ -104497,11 +103405,6 @@ id: MONDO:0043377 equivalent_to: NCIT:C114347 equivalent_to: SCTID:239806000 -[Term] -id: MONDO:0043452 -equivalent_to: NCIT:C36396 -equivalent_to: SCTID:205649008 - [Term] id: MONDO:0043455 equivalent_to: NCIT:C3496 @@ -104906,10 +103809,6 @@ equivalent_to: Orphanet:494547 id: MONDO:0044640 equivalent_to: Orphanet:495274 -[Term] -id: MONDO:0044641 -equivalent_to: Orphanet:495818 - [Term] id: MONDO:0044642 equivalent_to: Orphanet:495844 @@ -104988,10 +103887,6 @@ id: MONDO:0044714 equivalent_to: OMIM:617675 equivalent_to: Orphanet:502423 -[Term] -id: MONDO:0044717 -equivalent_to: Orphanet:502437 - [Term] id: MONDO:0044718 equivalent_to: OMIM:617762 @@ -105561,10 +104456,6 @@ equivalent_to: OMIM:617744 id: MONDO:0060592 equivalent_to: OMIM:617746 -[Term] -id: MONDO:0060593 -equivalent_to: OMIM:617749 - [Term] id: MONDO:0060596 equivalent_to: OMIM:617755 @@ -106060,9 +104951,8 @@ equivalent_to: OMIM:301700 [Term] id: MONDO:0100471 equivalent_to: EFO:0003762 -equivalent_to: MeSH:D014808 equivalent_to: NCIT:C114830 -equivalent_to: SNOMEDCT:34713006 +equivalent_to: SCTID:34713006 [Term] id: MONDO:0100480 @@ -106159,6 +105049,14 @@ id: MONDO:8000018 equivalent_to: OMIM:193007 equivalent_to: SCTID:111541001 +[Term] +id: MONDO:8000023 +equivalent_to: NCIT:C39577 + +[Term] +id: MONDO:8000024 +equivalent_to: OMIM:615559 + [Term] id: http://linkedlifedata.com/resource/umls/id/C0000744 equivalent_to: MONDO:0008692 @@ -106535,6 +105433,10 @@ equivalent_to: MONDO:0006757 id: http://linkedlifedata.com/resource/umls/id/C0005411 equivalent_to: MONDO:0008867 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C0005416 +equivalent_to: MONDO:0005667 + [Term] id: http://linkedlifedata.com/resource/umls/id/C0005591 equivalent_to: MONDO:0024905 @@ -107419,6 +106321,14 @@ equivalent_to: MONDO:0009254 id: http://linkedlifedata.com/resource/umls/id/C0016952 equivalent_to: MONDO:0018116 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C0016977 +equivalent_to: MONDO:0005281 + +[Term] +id: http://linkedlifedata.com/resource/umls/id/C0016978 +equivalent_to: MONDO:0021253 + [Term] id: http://linkedlifedata.com/resource/umls/id/C0017083 equivalent_to: MONDO:0017719 @@ -109931,6 +108841,10 @@ equivalent_to: MONDO:0100471 id: http://linkedlifedata.com/resource/umls/id/C0042880 equivalent_to: MONDO:0001244 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C0042904 +equivalent_to: MONDO:0004862 + [Term] id: http://linkedlifedata.com/resource/umls/id/C0042974 equivalent_to: MONDO:0019565 @@ -110351,6 +109265,10 @@ equivalent_to: MONDO:0002897 id: http://linkedlifedata.com/resource/umls/id/C0151332 equivalent_to: MONDO:0018076 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C0151463 +equivalent_to: MONDO:0000749 + [Term] id: http://linkedlifedata.com/resource/umls/id/C0151467 equivalent_to: MONDO:0019801 @@ -110439,6 +109357,14 @@ equivalent_to: MONDO:0001079 id: http://linkedlifedata.com/resource/umls/id/C0152222 equivalent_to: MONDO:0022220 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C0152445 +equivalent_to: MONDO:0004859 + +[Term] +id: http://linkedlifedata.com/resource/umls/id/C0152456 +equivalent_to: MONDO:0000987 + [Term] id: http://linkedlifedata.com/resource/umls/id/C0152516 equivalent_to: MONDO:0000916 @@ -110647,6 +109573,10 @@ equivalent_to: MONDO:0015459 id: http://linkedlifedata.com/resource/umls/id/C0153396 equivalent_to: MONDO:0015459 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C0153452 +equivalent_to: MONDO:0005411 + [Term] id: http://linkedlifedata.com/resource/umls/id/C0153477 equivalent_to: MONDO:0001763 @@ -110987,10 +109917,6 @@ equivalent_to: MONDO:0000959 id: http://linkedlifedata.com/resource/umls/id/C0155596 equivalent_to: MONDO:0001304 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0155675 -equivalent_to: MONDO:0009930 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0155700 equivalent_to: MONDO:0001261 @@ -111051,6 +109977,10 @@ equivalent_to: MONDO:0001155 id: http://linkedlifedata.com/resource/umls/id/C0156050 equivalent_to: MONDO:0001155 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C0156214 +equivalent_to: MONDO:0004858 + [Term] id: http://linkedlifedata.com/resource/umls/id/C0156265 equivalent_to: MONDO:0001270 @@ -111679,6 +110609,10 @@ equivalent_to: MONDO:0018715 id: http://linkedlifedata.com/resource/umls/id/C0235770 equivalent_to: MONDO:0002224 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C0235782 +equivalent_to: MONDO:0003220 + [Term] id: http://linkedlifedata.com/resource/umls/id/C0235815 equivalent_to: MONDO:0001791 @@ -112187,22 +111121,10 @@ equivalent_to: MONDO:0700015 id: http://linkedlifedata.com/resource/umls/id/C0265428 equivalent_to: MONDO:0016526 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0265438 -equivalent_to: MONDO:0015431 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0265444 -equivalent_to: MONDO:0019906 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0265449 equivalent_to: MONDO:0011146 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0265475 -equivalent_to: MONDO:0015434 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0265479 equivalent_to: MONDO:0022757 @@ -113379,6 +112301,18 @@ equivalent_to: MONDO:0004301 id: http://linkedlifedata.com/resource/umls/id/C0279603 equivalent_to: MONDO:0002627 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C0279651 +equivalent_to: MONDO:0006215 + +[Term] +id: http://linkedlifedata.com/resource/umls/id/C0279653 +equivalent_to: MONDO:0006476 + +[Term] +id: http://linkedlifedata.com/resource/umls/id/C0279658 +equivalent_to: MONDO:0006220 + [Term] id: http://linkedlifedata.com/resource/umls/id/C0279663 equivalent_to: MONDO:0006046 @@ -114363,6 +113297,10 @@ equivalent_to: MONDO:0015185 id: http://linkedlifedata.com/resource/umls/id/C0345893 equivalent_to: MONDO:0017380 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C0345912 +equivalent_to: MONDO:0021503 + [Term] id: http://linkedlifedata.com/resource/umls/id/C0345982 equivalent_to: MONDO:0007566 @@ -115263,10 +114201,6 @@ equivalent_to: MONDO:0000898 id: http://linkedlifedata.com/resource/umls/id/C0474966 equivalent_to: MONDO:0002526 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0475813 -equivalent_to: MONDO:0007716 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0476121 equivalent_to: MONDO:0003813 @@ -115795,10 +114729,6 @@ equivalent_to: MONDO:0005873 id: http://linkedlifedata.com/resource/umls/id/C0752347 equivalent_to: MONDO:0007488 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0795796 -equivalent_to: MONDO:0016883 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0795800 equivalent_to: MONDO:0016952 @@ -115807,10 +114737,6 @@ equivalent_to: MONDO:0016952 id: http://linkedlifedata.com/resource/umls/id/C0795803 equivalent_to: MONDO:0016939 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0795804 -equivalent_to: MONDO:0016901 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0795805 equivalent_to: MONDO:0016953 @@ -115823,10 +114749,6 @@ equivalent_to: MONDO:0016954 id: http://linkedlifedata.com/resource/umls/id/C0795812 equivalent_to: MONDO:0016955 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0795816 -equivalent_to: MONDO:0016905 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0795820 equivalent_to: MONDO:0016944 @@ -115839,10 +114761,6 @@ equivalent_to: MONDO:0016958 id: http://linkedlifedata.com/resource/umls/id/C0795822 equivalent_to: MONDO:0008365 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0795828 -equivalent_to: MONDO:0016907 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0795829 equivalent_to: MONDO:0015772 @@ -115851,22 +114769,10 @@ equivalent_to: MONDO:0015772 id: http://linkedlifedata.com/resource/umls/id/C0795832 equivalent_to: MONDO:0018030 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0795836 -equivalent_to: MONDO:0016892 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0795839 -equivalent_to: MONDO:0016909 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0795841 equivalent_to: MONDO:0007838 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0795843 -equivalent_to: MONDO:0015432 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0795844 equivalent_to: MONDO:0022174 @@ -115879,10 +114785,6 @@ equivalent_to: MONDO:0015723 id: http://linkedlifedata.com/resource/umls/id/C0795846 equivalent_to: MONDO:0042969 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0795849 -equivalent_to: MONDO:0022177 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0795858 equivalent_to: MONDO:0016965 @@ -115915,10 +114817,6 @@ equivalent_to: MONDO:0010364 id: http://linkedlifedata.com/resource/umls/id/C0795875 equivalent_to: MONDO:0018930 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0795878 -equivalent_to: MONDO:0019891 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0795884 equivalent_to: MONDO:0018026 @@ -115931,10 +114829,6 @@ equivalent_to: MONDO:0010399 id: http://linkedlifedata.com/resource/umls/id/C0795889 equivalent_to: MONDO:0010354 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0795891 -equivalent_to: MONDO:0017010 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0795895 equivalent_to: MONDO:0008754 @@ -115951,10 +114845,6 @@ equivalent_to: MONDO:0007355 id: http://linkedlifedata.com/resource/umls/id/C0795905 equivalent_to: MONDO:0009406 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0795917 -equivalent_to: MONDO:0007716 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0795949 equivalent_to: MONDO:0009627 @@ -116391,6 +115281,10 @@ equivalent_to: MONDO:0043358 id: http://linkedlifedata.com/resource/umls/id/C0940607 equivalent_to: MONDO:0001091 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C0947622 +equivalent_to: MONDO:0006698 + [Term] id: http://linkedlifedata.com/resource/umls/id/C0947939 equivalent_to: MONDO:0001667 @@ -117443,14 +116337,62 @@ equivalent_to: MONDO:0003752 id: http://linkedlifedata.com/resource/umls/id/C1333646 equivalent_to: MONDO:0002301 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C1333741 +equivalent_to: MONDO:0006217 + +[Term] +id: http://linkedlifedata.com/resource/umls/id/C1333742 +equivalent_to: MONDO:0003026 + +[Term] +id: http://linkedlifedata.com/resource/umls/id/C1333745 +equivalent_to: MONDO:0003297 + +[Term] +id: http://linkedlifedata.com/resource/umls/id/C1333746 +equivalent_to: MONDO:0003364 + [Term] id: http://linkedlifedata.com/resource/umls/id/C1333747 equivalent_to: MONDO:0000972 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C1333748 +equivalent_to: MONDO:0004474 + [Term] id: http://linkedlifedata.com/resource/umls/id/C1333749 equivalent_to: MONDO:0004484 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C1333750 +equivalent_to: MONDO:0004067 + +[Term] +id: http://linkedlifedata.com/resource/umls/id/C1333751 +equivalent_to: MONDO:0003303 + +[Term] +id: http://linkedlifedata.com/resource/umls/id/C1333753 +equivalent_to: MONDO:0004148 + +[Term] +id: http://linkedlifedata.com/resource/umls/id/C1333754 +equivalent_to: MONDO:0002518 + +[Term] +id: http://linkedlifedata.com/resource/umls/id/C1333756 +equivalent_to: MONDO:0002856 + +[Term] +id: http://linkedlifedata.com/resource/umls/id/C1333757 +equivalent_to: MONDO:0002857 + +[Term] +id: http://linkedlifedata.com/resource/umls/id/C1333758 +equivalent_to: MONDO:0002667 + [Term] id: http://linkedlifedata.com/resource/umls/id/C1333759 equivalent_to: MONDO:0006219 @@ -117575,6 +116517,10 @@ equivalent_to: MONDO:0006265 id: http://linkedlifedata.com/resource/umls/id/C1334386 equivalent_to: MONDO:0003761 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C1334438 +equivalent_to: MONDO:0004077 + [Term] id: http://linkedlifedata.com/resource/umls/id/C1334452 equivalent_to: MONDO:0005454 @@ -118405,7 +117351,7 @@ equivalent_to: MONDO:0011383 [Term] id: http://linkedlifedata.com/resource/umls/id/C1519711 -equivalent_to: MONDO:0014253 +equivalent_to: MONDO:8000023 [Term] id: http://linkedlifedata.com/resource/umls/id/C1519845 @@ -118571,6 +117517,10 @@ equivalent_to: MONDO:0006174 id: http://linkedlifedata.com/resource/umls/id/C1708107 equivalent_to: MONDO:0023206 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C1708174 +equivalent_to: MONDO:0006218 + [Term] id: http://linkedlifedata.com/resource/umls/id/C1708350 equivalent_to: MONDO:0007888 @@ -118903,10 +117853,6 @@ equivalent_to: MONDO:0008278 id: http://linkedlifedata.com/resource/umls/id/C1832950 equivalent_to: MONDO:0010970 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1833022 -equivalent_to: MONDO:0009958 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1833053 equivalent_to: MONDO:0010961 @@ -119039,10 +117985,6 @@ equivalent_to: MONDO:0008169 id: http://linkedlifedata.com/resource/umls/id/C1833689 equivalent_to: MONDO:0008166 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1833693 -equivalent_to: MONDO:0008161 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1833697 equivalent_to: MONDO:0008160 @@ -119359,10 +118301,6 @@ equivalent_to: MONDO:0007895 id: http://linkedlifedata.com/resource/umls/id/C1835484 equivalent_to: MONDO:0007890 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1835488 -equivalent_to: MONDO:0007887 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1835489 equivalent_to: MONDO:0007884 @@ -120007,10 +118945,6 @@ equivalent_to: MONDO:0010890 id: http://linkedlifedata.com/resource/umls/id/C1838141 equivalent_to: MONDO:0010885 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1838162 -equivalent_to: MONDO:0010881 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1838180 equivalent_to: MONDO:0010879 @@ -120067,10 +119001,6 @@ equivalent_to: MONDO:0010861 id: http://linkedlifedata.com/resource/umls/id/C1838281 equivalent_to: MONDO:0010858 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1838327 -equivalent_to: MONDO:0010856 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1838329 equivalent_to: MONDO:0010854 @@ -120567,10 +119497,6 @@ equivalent_to: MONDO:0011985 id: http://linkedlifedata.com/resource/umls/id/C1842463 equivalent_to: MONDO:0011978 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1842464 -equivalent_to: MONDO:0011977 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1842466 equivalent_to: MONDO:0011975 @@ -121003,10 +119929,6 @@ equivalent_to: MONDO:0010267 id: http://linkedlifedata.com/resource/umls/id/C1846175 equivalent_to: MONDO:0010265 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1846242 -equivalent_to: MONDO:0010263 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1846273 equivalent_to: MONDO:0010260 @@ -121217,7 +120139,7 @@ equivalent_to: MONDO:0011694 [Term] id: http://linkedlifedata.com/resource/umls/id/C1847731 -equivalent_to: MONDO:0011692 +equivalent_to: MONDO:0024538 [Term] id: http://linkedlifedata.com/resource/umls/id/C1847759 @@ -121651,10 +120573,6 @@ equivalent_to: MONDO:0009479 id: http://linkedlifedata.com/resource/umls/id/C1850100 equivalent_to: MONDO:0009830 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1850101 -equivalent_to: MONDO:0009829 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1850102 equivalent_to: MONDO:0009828 @@ -121823,10 +120741,6 @@ equivalent_to: MONDO:0009684 id: http://linkedlifedata.com/resource/umls/id/C1850902 equivalent_to: MONDO:0007647 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1850930 -equivalent_to: MONDO:0007645 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1850934 equivalent_to: MONDO:0007643 @@ -121847,10 +120761,6 @@ equivalent_to: MONDO:0007625 id: http://linkedlifedata.com/resource/umls/id/C1851055 equivalent_to: MONDO:0007623 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1851056 -equivalent_to: MONDO:0007622 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1851099 equivalent_to: MONDO:0007616 @@ -123871,10 +122781,6 @@ equivalent_to: MONDO:0008634 id: http://linkedlifedata.com/resource/umls/id/C1860586 equivalent_to: MONDO:0008626 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1860587 -equivalent_to: MONDO:0008625 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1860596 equivalent_to: MONDO:0008624 @@ -123963,10 +122869,6 @@ equivalent_to: MONDO:0008568 id: http://linkedlifedata.com/resource/umls/id/C1861171 equivalent_to: MONDO:0008560 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1861178 -equivalent_to: MONDO:0008557 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1861195 equivalent_to: MONDO:0008552 @@ -123975,10 +122877,6 @@ equivalent_to: MONDO:0008552 id: http://linkedlifedata.com/resource/umls/id/C1861204 equivalent_to: MONDO:0008549 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1861211 -equivalent_to: MONDO:0008548 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1861232 equivalent_to: MONDO:0008545 @@ -124075,10 +122973,6 @@ equivalent_to: MONDO:0007325 id: http://linkedlifedata.com/resource/umls/id/C1861580 equivalent_to: MONDO:0007320 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1861630 -equivalent_to: MONDO:0007317 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1861668 equivalent_to: MONDO:0007312 @@ -124235,10 +123129,6 @@ equivalent_to: MONDO:0018473 id: http://linkedlifedata.com/resource/umls/id/C1862681 equivalent_to: MONDO:0007144 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1862824 -equivalent_to: MONDO:0007139 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1862842 equivalent_to: MONDO:0007133 @@ -124579,10 +123469,6 @@ equivalent_to: MONDO:0012328 id: http://linkedlifedata.com/resource/umls/id/C1864823 equivalent_to: MONDO:0012325 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1864825 -equivalent_to: MONDO:0012324 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1864826 equivalent_to: MONDO:0012323 @@ -124615,10 +123501,6 @@ equivalent_to: MONDO:0012505 id: http://linkedlifedata.com/resource/umls/id/C1864852 equivalent_to: MONDO:0012504 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1864871 -equivalent_to: MONDO:0018216 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1864873 equivalent_to: MONDO:0012494 @@ -124743,10 +123625,6 @@ equivalent_to: MONDO:0011251 id: http://linkedlifedata.com/resource/umls/id/C1865204 equivalent_to: MONDO:0011250 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1865208 -equivalent_to: MONDO:0011248 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1865209 equivalent_to: MONDO:0011247 @@ -125283,10 +124161,6 @@ equivalent_to: MONDO:0019957 id: http://linkedlifedata.com/resource/umls/id/C1955934 equivalent_to: MONDO:0018053 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1956093 -equivalent_to: MONDO:0008557 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1956097 equivalent_to: MONDO:0008684 @@ -125595,10 +124469,6 @@ equivalent_to: MONDO:0010392 id: http://linkedlifedata.com/resource/umls/id/C1970936 equivalent_to: MONDO:0010262 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1996945 -equivalent_to: MONDO:0020050 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1997910 equivalent_to: MONDO:0016602 @@ -126467,10 +125337,6 @@ equivalent_to: MONDO:0013212 id: http://linkedlifedata.com/resource/umls/id/C2750234 equivalent_to: MONDO:0012430 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C2750325 -equivalent_to: MONDO:0020494 - [Term] id: http://linkedlifedata.com/resource/umls/id/C2750389 equivalent_to: MONDO:0012292 @@ -126771,10 +125637,6 @@ equivalent_to: MONDO:0013037 id: http://linkedlifedata.com/resource/umls/id/C2752061 equivalent_to: MONDO:0013033 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C2752073 -equivalent_to: MONDO:0020734 - [Term] id: http://linkedlifedata.com/resource/umls/id/C2752074 equivalent_to: MONDO:0008759 @@ -128671,6 +127533,10 @@ equivalent_to: MONDO:0024642 id: http://linkedlifedata.com/resource/umls/id/C3272797 equivalent_to: MONDO:0100290 +[Term] +id: http://linkedlifedata.com/resource/umls/id/C3273115 +equivalent_to: MONDO:0024502 + [Term] id: http://linkedlifedata.com/resource/umls/id/C3273116 equivalent_to: MONDO:0015073 @@ -128783,10 +127649,6 @@ equivalent_to: MONDO:0013111 id: http://linkedlifedata.com/resource/umls/id/C3279657 equivalent_to: MONDO:0013535 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C3279661 -equivalent_to: MONDO:0013538 - [Term] id: http://linkedlifedata.com/resource/umls/id/C3279662 equivalent_to: MONDO:0013539 @@ -128871,10 +127733,6 @@ equivalent_to: MONDO:0013584 id: http://linkedlifedata.com/resource/umls/id/C3279899 equivalent_to: MONDO:0013585 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C3279902 -equivalent_to: MONDO:0013586 - [Term] id: http://linkedlifedata.com/resource/umls/id/C3279904 equivalent_to: MONDO:0013587 @@ -130263,10 +129121,6 @@ equivalent_to: MONDO:0016808 id: http://linkedlifedata.com/resource/umls/id/C3711387 equivalent_to: MONDO:0016660 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C3711390 -equivalent_to: MONDO:0019179 - [Term] id: http://linkedlifedata.com/resource/umls/id/C3711645 equivalent_to: MONDO:0012173 @@ -130781,7 +129635,7 @@ equivalent_to: MONDO:0014248 [Term] id: http://linkedlifedata.com/resource/umls/id/C3809928 -equivalent_to: MONDO:0014253 +equivalent_to: MONDO:8000024 [Term] id: http://linkedlifedata.com/resource/umls/id/C3809950 @@ -131747,14 +130601,6 @@ equivalent_to: MONDO:0001341 id: http://linkedlifedata.com/resource/umls/id/C4049993 equivalent_to: MONDO:0007416 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4050064 -equivalent_to: MONDO:0016654 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4050314 -equivalent_to: MONDO:0019904 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4050407 equivalent_to: MONDO:0012105 @@ -131899,10 +130745,6 @@ equivalent_to: MONDO:0014630 id: http://linkedlifedata.com/resource/umls/id/C4225158 equivalent_to: MONDO:0014626 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4225160 -equivalent_to: MONDO:0014826 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4225161 equivalent_to: MONDO:0014823 @@ -132687,10 +131529,6 @@ equivalent_to: MONDO:0017878 id: http://linkedlifedata.com/resource/umls/id/C4274528 equivalent_to: MONDO:0012927 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4274647 -equivalent_to: MONDO:0016652 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4274761 equivalent_to: MONDO:0015826 @@ -132775,10 +131613,6 @@ equivalent_to: MONDO:0022737 id: http://linkedlifedata.com/resource/umls/id/C4275164 equivalent_to: MONDO:0014720 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4275171 -equivalent_to: MONDO:0015562 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4275180 equivalent_to: MONDO:0018541 @@ -132987,14 +131821,6 @@ equivalent_to: MONDO:0011055 id: http://linkedlifedata.com/resource/umls/id/C4304504 equivalent_to: MONDO:0016458 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4304505 -equivalent_to: MONDO:0016657 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4304514 -equivalent_to: MONDO:0019164 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4304526 equivalent_to: MONDO:0016461 @@ -133003,10 +131829,6 @@ equivalent_to: MONDO:0016461 id: http://linkedlifedata.com/resource/umls/id/C4304527 equivalent_to: MONDO:0013025 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4304528 -equivalent_to: MONDO:0016655 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4304530 equivalent_to: MONDO:0013292 @@ -133015,18 +131837,10 @@ equivalent_to: MONDO:0013292 id: http://linkedlifedata.com/resource/umls/id/C4304531 equivalent_to: MONDO:0012864 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4304537 -equivalent_to: MONDO:0015583 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4304538 equivalent_to: MONDO:0012916 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4304539 -equivalent_to: MONDO:0016841 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4304540 equivalent_to: MONDO:0016561 @@ -133035,30 +131849,14 @@ equivalent_to: MONDO:0016561 id: http://linkedlifedata.com/resource/umls/id/C4304577 equivalent_to: MONDO:0013090 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4304578 -equivalent_to: MONDO:0017405 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4304579 -equivalent_to: MONDO:0016765 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4304591 equivalent_to: MONDO:0013238 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4304594 -equivalent_to: MONDO:0016838 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4304595 equivalent_to: MONDO:0016837 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4304596 -equivalent_to: MONDO:0016836 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4304597 equivalent_to: MONDO:0013320 @@ -133175,10 +131973,6 @@ equivalent_to: MONDO:0013272 id: http://linkedlifedata.com/resource/umls/id/C4305104 equivalent_to: MONDO:0018861 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4305140 -equivalent_to: MONDO:0019784 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4305144 equivalent_to: MONDO:0011833 @@ -133195,10 +131989,6 @@ equivalent_to: MONDO:0010033 id: http://linkedlifedata.com/resource/umls/id/C4305230 equivalent_to: MONDO:0014822 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4305240 -equivalent_to: MONDO:0016833 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4305256 equivalent_to: MONDO:0012559 @@ -133695,10 +132485,6 @@ equivalent_to: MONDO:0014828 id: http://linkedlifedata.com/resource/umls/id/C4310800 equivalent_to: MONDO:0014827 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4310810 -equivalent_to: MONDO:0010516 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4310811 equivalent_to: MONDO:0010515 @@ -133999,10 +132785,6 @@ equivalent_to: MONDO:0013404 id: http://linkedlifedata.com/resource/umls/id/C4510302 equivalent_to: MONDO:0018837 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4510306 -equivalent_to: MONDO:0016842 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4510368 equivalent_to: MONDO:0014546 @@ -134131,10 +132913,6 @@ equivalent_to: MONDO:0011992 id: http://linkedlifedata.com/resource/umls/id/C4518082 equivalent_to: MONDO:0020469 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4518083 -equivalent_to: MONDO:0016850 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4518087 equivalent_to: MONDO:0015552 @@ -134163,10 +132941,6 @@ equivalent_to: MONDO:0020470 id: http://linkedlifedata.com/resource/umls/id/C4518343 equivalent_to: MONDO:0012740 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4518344 -equivalent_to: MONDO:0017334 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4518469 equivalent_to: MONDO:0019122 @@ -134219,10 +132993,6 @@ equivalent_to: MONDO:0016834 id: http://linkedlifedata.com/resource/umls/id/C4518822 equivalent_to: MONDO:0013797 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4518823 -equivalent_to: MONDO:0016843 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4518824 equivalent_to: MONDO:0013267 @@ -134375,10 +133145,6 @@ equivalent_to: MONDO:0015743 id: http://linkedlifedata.com/resource/umls/id/C4551602 equivalent_to: MONDO:0008104 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C4707448 -equivalent_to: MONDO:0019903 - [Term] id: http://linkedlifedata.com/resource/umls/id/C4755316 equivalent_to: MONDO:0007988 @@ -134547,10 +133313,6 @@ equivalent_to: MONDO:0011642 id: http://linkedlifedata.com/resource/umls/id/CN035550 equivalent_to: MONDO:0013208 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN035778 -equivalent_to: MONDO:0016910 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN035788 equivalent_to: MONDO:0015727 @@ -134571,10 +133333,6 @@ equivalent_to: MONDO:0020490 id: http://linkedlifedata.com/resource/umls/id/CN035928 equivalent_to: MONDO:0023121 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN035931 -equivalent_to: MONDO:0019908 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN035970 equivalent_to: MONDO:0043085 @@ -134583,14 +133341,6 @@ equivalent_to: MONDO:0043085 id: http://linkedlifedata.com/resource/umls/id/CN036006 equivalent_to: MONDO:0015771 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN036105 -equivalent_to: MONDO:0019905 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN036129 -equivalent_to: MONDO:0015443 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN036220 equivalent_to: MONDO:0022754 @@ -134607,26 +133357,10 @@ equivalent_to: MONDO:0044767 id: http://linkedlifedata.com/resource/umls/id/CN036363 equivalent_to: MONDO:0016966 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN036364 -equivalent_to: MONDO:0016898 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN036412 -equivalent_to: MONDO:0015430 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN036464 equivalent_to: MONDO:0010247 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN036553 -equivalent_to: MONDO:0015435 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN036599 -equivalent_to: MONDO:0015438 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN036641 equivalent_to: MONDO:0016943 @@ -134647,10 +133381,6 @@ equivalent_to: MONDO:0022758 id: http://linkedlifedata.com/resource/umls/id/CN036786 equivalent_to: MONDO:0044768 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN036809 -equivalent_to: MONDO:0015566 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN036884 equivalent_to: MONDO:0014185 @@ -134671,14 +133401,6 @@ equivalent_to: MONDO:0017733 id: http://linkedlifedata.com/resource/umls/id/CN037021 equivalent_to: MONDO:0022746 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN037252 -equivalent_to: MONDO:0015437 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN037257 -equivalent_to: MONDO:0015431 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN037259 equivalent_to: MONDO:0022178 @@ -135179,18 +133901,10 @@ equivalent_to: MONDO:0015553 id: http://linkedlifedata.com/resource/umls/id/CN199886 equivalent_to: MONDO:0015564 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN199952 -equivalent_to: MONDO:0015583 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN199965 equivalent_to: MONDO:0013626 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN199978 -equivalent_to: MONDO:0015606 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN199983 equivalent_to: MONDO:0015611 @@ -135679,30 +134393,6 @@ equivalent_to: MONDO:0016646 id: http://linkedlifedata.com/resource/umls/id/CN201875 equivalent_to: MONDO:0016647 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN201880 -equivalent_to: MONDO:0016652 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN201882 -equivalent_to: MONDO:0016653 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN201884 -equivalent_to: MONDO:0016655 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN201886 -equivalent_to: MONDO:0016656 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN201887 -equivalent_to: MONDO:0016657 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN201888 -equivalent_to: MONDO:0016658 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN201889 equivalent_to: MONDO:0016659 @@ -135727,10 +134417,6 @@ equivalent_to: MONDO:0016747 id: http://linkedlifedata.com/resource/umls/id/CN202009 equivalent_to: MONDO:0016758 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN202023 -equivalent_to: MONDO:0016765 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN202036 equivalent_to: MONDO:0016780 @@ -135775,10 +134461,6 @@ equivalent_to: MONDO:0016818 id: http://linkedlifedata.com/resource/umls/id/CN202160 equivalent_to: MONDO:0016832 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN202163 -equivalent_to: MONDO:0016833 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN202166 equivalent_to: MONDO:0012756 @@ -135791,38 +134473,14 @@ equivalent_to: MONDO:0016834 id: http://linkedlifedata.com/resource/umls/id/CN202171 equivalent_to: MONDO:0016835 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN202172 -equivalent_to: MONDO:0016836 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN202173 equivalent_to: MONDO:0016837 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN202174 -equivalent_to: MONDO:0016838 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN202175 equivalent_to: MONDO:0016839 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN202180 -equivalent_to: MONDO:0016841 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN202182 -equivalent_to: MONDO:0016842 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN202183 -equivalent_to: MONDO:0016843 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN202185 -equivalent_to: MONDO:0016845 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN202187 equivalent_to: MONDO:0016846 @@ -135831,10 +134489,6 @@ equivalent_to: MONDO:0016846 id: http://linkedlifedata.com/resource/umls/id/CN202195 equivalent_to: MONDO:0009726 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN202196 -equivalent_to: MONDO:0016850 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN202197 equivalent_to: MONDO:0016854 @@ -135903,10 +134557,6 @@ equivalent_to: MONDO:0016994 id: http://linkedlifedata.com/resource/umls/id/CN202391 equivalent_to: MONDO:0017045 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN202414 -equivalent_to: MONDO:0017056 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN202416 equivalent_to: MONDO:0017058 @@ -136059,10 +134709,6 @@ equivalent_to: MONDO:0007403 id: http://linkedlifedata.com/resource/umls/id/CN202825 equivalent_to: MONDO:0009840 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN202845 -equivalent_to: MONDO:0017283 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN202846 equivalent_to: MONDO:0017284 @@ -136107,10 +134753,6 @@ equivalent_to: MONDO:0017327 id: http://linkedlifedata.com/resource/umls/id/CN202977 equivalent_to: MONDO:0017332 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN202984 -equivalent_to: MONDO:0017334 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN202994 equivalent_to: MONDO:0017338 @@ -136147,10 +134789,6 @@ equivalent_to: MONDO:0017399 id: http://linkedlifedata.com/resource/umls/id/CN203151 equivalent_to: MONDO:0017404 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN203152 -equivalent_to: MONDO:0017405 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN203155 equivalent_to: MONDO:0009416 @@ -136165,7 +134803,7 @@ equivalent_to: MONDO:0017408 [Term] id: http://linkedlifedata.com/resource/umls/id/CN203162 -equivalent_to: MONDO:0017412 +equivalent_to: MONDO:0013363 [Term] id: http://linkedlifedata.com/resource/umls/id/CN203163 @@ -136315,10 +134953,6 @@ equivalent_to: MONDO:0008391 id: http://linkedlifedata.com/resource/umls/id/CN203673 equivalent_to: MONDO:0008389 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN203720 -equivalent_to: MONDO:0017780 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN203731 equivalent_to: MONDO:0017781 @@ -136383,10 +135017,6 @@ equivalent_to: MONDO:0017809 id: http://linkedlifedata.com/resource/umls/id/CN203779 equivalent_to: MONDO:0017810 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN203780 -equivalent_to: MONDO:0017811 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN203789 equivalent_to: MONDO:0017819 @@ -136631,10 +135261,6 @@ equivalent_to: MONDO:0018121 id: http://linkedlifedata.com/resource/umls/id/CN204496 equivalent_to: MONDO:0018123 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN204505 -equivalent_to: MONDO:0018127 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN204507 equivalent_to: MONDO:0018129 @@ -136647,10 +135273,6 @@ equivalent_to: MONDO:0018130 id: http://linkedlifedata.com/resource/umls/id/CN204511 equivalent_to: MONDO:0014089 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN204512 -equivalent_to: MONDO:0018131 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN204519 equivalent_to: MONDO:0018133 @@ -136679,10 +135301,6 @@ equivalent_to: MONDO:0018142 id: http://linkedlifedata.com/resource/umls/id/CN204540 equivalent_to: MONDO:0018143 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN204590 -equivalent_to: MONDO:0018156 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN204595 equivalent_to: MONDO:0013336 @@ -136739,10 +135357,6 @@ equivalent_to: MONDO:0018203 id: http://linkedlifedata.com/resource/umls/id/CN204718 equivalent_to: MONDO:0018204 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN204723 -equivalent_to: MONDO:0018207 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN204726 equivalent_to: MONDO:0018208 @@ -136759,10 +135373,6 @@ equivalent_to: MONDO:0018210 id: http://linkedlifedata.com/resource/umls/id/CN204734 equivalent_to: MONDO:0018212 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN204740 -equivalent_to: MONDO:0018216 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN204742 equivalent_to: MONDO:0018218 @@ -136779,14 +135389,6 @@ equivalent_to: MONDO:0009291 id: http://linkedlifedata.com/resource/umls/id/CN204783 equivalent_to: MONDO:0009292 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN204807 -equivalent_to: MONDO:0018245 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN204808 -equivalent_to: MONDO:0018246 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN204816 equivalent_to: MONDO:0010334 @@ -137051,10 +135653,6 @@ equivalent_to: MONDO:0019123 id: http://linkedlifedata.com/resource/umls/id/CN205654 equivalent_to: MONDO:0019130 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN205719 -equivalent_to: MONDO:0019164 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN205736 equivalent_to: MONDO:0019176 @@ -137423,10 +136021,6 @@ equivalent_to: MONDO:0019763 id: http://linkedlifedata.com/resource/umls/id/CN206699 equivalent_to: MONDO:0019764 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN206727 -equivalent_to: MONDO:0019784 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN206737 equivalent_to: MONDO:0008749 @@ -137483,10 +136077,6 @@ equivalent_to: MONDO:0019876 id: http://linkedlifedata.com/resource/umls/id/CN206814 equivalent_to: MONDO:0019878 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN206831 -equivalent_to: MONDO:0019896 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN206841 equivalent_to: MONDO:0019913 @@ -137695,10 +136285,6 @@ equivalent_to: MONDO:0014529 id: http://linkedlifedata.com/resource/umls/id/CN225932 equivalent_to: MONDO:0018082 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN225942 -equivalent_to: MONDO:0018341 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN225944 equivalent_to: MONDO:0018342 @@ -137775,14 +136361,6 @@ equivalent_to: MONDO:0018425 id: http://linkedlifedata.com/resource/umls/id/CN226139 equivalent_to: MONDO:0018426 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN226140 -equivalent_to: MONDO:0018428 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN226142 -equivalent_to: MONDO:0018429 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN226146 equivalent_to: MONDO:0012411 @@ -138375,10 +136953,6 @@ equivalent_to: MONDO:0009151 id: http://linkedlifedata.com/resource/umls/id/CN229225 equivalent_to: MONDO:0019794 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN229262 -equivalent_to: MONDO:0020055 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN229268 equivalent_to: MONDO:0020093 @@ -138455,10 +137029,6 @@ equivalent_to: MONDO:0019218 id: http://linkedlifedata.com/resource/umls/id/CN233040 equivalent_to: MONDO:0010924 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN233170 -equivalent_to: MONDO:0014708 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN234684 equivalent_to: MONDO:0017338 @@ -138531,10 +137101,6 @@ equivalent_to: MONDO:0018464 id: http://linkedlifedata.com/resource/umls/id/CN237452 equivalent_to: MONDO:0018469 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN237459 -equivalent_to: MONDO:0018474 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN237461 equivalent_to: MONDO:0018475 @@ -138571,10 +137137,6 @@ equivalent_to: MONDO:0018550 id: http://linkedlifedata.com/resource/umls/id/CN237560 equivalent_to: MONDO:0007660 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN237571 -equivalent_to: MONDO:0018564 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN237576 equivalent_to: MONDO:0018567 @@ -138647,14 +137209,6 @@ equivalent_to: MONDO:0018630 id: http://linkedlifedata.com/resource/umls/id/CN237675 equivalent_to: MONDO:0044640 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN237678 -equivalent_to: MONDO:0018632 - -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN237681 -equivalent_to: MONDO:0018633 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN237682 equivalent_to: MONDO:0009477 @@ -138711,10 +137265,6 @@ equivalent_to: MONDO:0018695 id: http://linkedlifedata.com/resource/umls/id/CN237765 equivalent_to: MONDO:0018696 -[Term] -id: http://linkedlifedata.com/resource/umls/id/CN237766 -equivalent_to: MONDO:0018697 - [Term] id: http://linkedlifedata.com/resource/umls/id/CN237770 equivalent_to: MONDO:0018698 diff --git a/imports/equivalencies.owl b/imports/equivalencies.owl index c4726d26c6..ced4c78033 100644 --- a/imports/equivalencies.owl +++ b/imports/equivalencies.owl @@ -776,6 +776,14 @@ + + + + + + + + @@ -2544,6 +2552,22 @@ + + + + + + + + + + + + + + + + @@ -7568,6 +7592,14 @@ + + + + + + + + @@ -8408,6 +8440,14 @@ + + + + + + + + @@ -8584,6 +8624,22 @@ + + + + + + + + + + + + + + + + @@ -9000,6 +9056,14 @@ + + + + + + + + @@ -9680,14 +9744,6 @@ - - - - - - - - @@ -9808,6 +9864,14 @@ + + + + + + + + @@ -11064,6 +11128,14 @@ + + + + + + + + @@ -12080,22 +12152,6 @@ - - - - - - - - - - - - - - - - @@ -12104,14 +12160,6 @@ - - - - - - - - @@ -14464,6 +14512,30 @@ + + + + + + + + + + + + + + + + + + + + + + + + @@ -16432,6 +16504,14 @@ + + + + + + + + @@ -18232,14 +18312,6 @@ - - - - - - - - @@ -19296,14 +19368,6 @@ - - - - - - - - @@ -19320,14 +19384,6 @@ - - - - - - - - @@ -19352,14 +19408,6 @@ - - - - - - - - @@ -19384,14 +19432,6 @@ - - - - - - - - @@ 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+ + + + @@ -339395,12 +336297,6 @@ - - - - - - @@ -340349,12 +337245,6 @@ - - - - - - @@ -340391,6 +337281,12 @@ + + + + + + @@ -340523,6 +337419,12 @@ + + + + + + @@ -341861,12 +338763,6 @@ - - - - - - @@ -342059,6 +338955,12 @@ + + + + + + @@ -343553,12 +340455,6 @@ - - - - - - @@ -344183,12 +341079,6 @@ - - - - - - @@ -344699,12 +341589,6 @@ - - - - - - @@ -345203,12 +342087,6 @@ - - - - - - @@ -345377,18 +342255,6 @@ - - - - - - - - - - - - @@ -345737,12 +342603,6 @@ - - - - - - @@ -345881,12 +342741,6 @@ - - - - - - @@ -346481,12 +343335,6 @@ - - - - - - @@ -346835,12 +343683,6 @@ - - - - - - @@ -346853,24 +343695,12 @@ - - - - - - - - - - - - @@ -346889,66 +343719,24 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -346967,36 +343755,18 @@ - - - - - - - - - - - - - - - - - - @@ -347525,12 +344295,6 @@ - - - - - - @@ -347651,12 +344415,6 @@ - - - - - - @@ -348377,12 +345135,6 @@ - - - - - - @@ -348629,12 +345381,6 @@ - - - - - - @@ -348671,12 +345417,6 @@ - - - - - - @@ -348707,12 +345447,6 @@ - - - - - - @@ -349223,18 +345957,6 @@ - - - - - - - - - - - - @@ -349319,18 +346041,6 @@ - - - - - - - - - - - - @@ -349673,12 +346383,6 @@ - - - - - - @@ -349709,12 +346413,6 @@ - - - - - - @@ -349799,12 +346497,6 @@ - - - - - - @@ -350237,12 +346929,6 @@ - - - - - - @@ -350483,24 +347169,6 @@ - - - - - - - - - - - - - - - - - - @@ -350525,24 +347193,12 @@ - - - - - - - - - - - - @@ -351197,12 +347853,6 @@ - - - - - - @@ -351215,42 +347865,6 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -351407,12 +348021,6 @@ - - - - - - @@ -351605,12 +348213,6 @@ - - - - - - @@ -352199,12 +348801,6 @@ - - - - - - @@ -352847,12 +349443,6 @@ - - - - - - @@ -352937,12 +349527,6 @@ - - - - - - @@ -353045,12 +349629,6 @@ - - - - - - @@ -353327,6 +349905,12 @@ + + + + + + @@ -353699,12 +350283,6 @@ - - - - - - @@ -354137,12 +350715,6 @@ - - - - - - @@ -354293,12 +350865,6 @@ - - - - - - @@ -354461,6 +351027,12 @@ + + + + + + @@ -354653,6 +351225,12 @@ + + + + + + @@ -354797,6 +351375,12 @@ + + + + + + @@ -355517,6 +352101,12 @@ + + + + + + @@ -358079,12 +354669,36 @@ + + + + + + + + + + + + + + + + + + + + + + + + @@ -358613,6 +355227,12 @@ + + + + + + @@ -359147,6 +355767,12 @@ + + + + + + @@ -360701,6 +357327,12 @@ + + + + + + @@ -361499,12 +358131,6 @@ - - - - - - @@ -361601,12 +358227,6 @@ - - - - - - @@ -363287,102 +359907,18 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -364001,12 +360537,6 @@ - - - - - - @@ -364079,24 +360609,12 @@ - - - - - - - - - - - - @@ -364121,12 +360639,6 @@ - - - - - - @@ -364157,12 +360669,6 @@ - - - - - - @@ -364175,12 +360681,6 @@ - - - - - - @@ -364217,12 +360717,6 @@ - - - - - - @@ -364283,18 +360777,6 @@ - - - - - - - - - - - - @@ -365297,12 +361779,6 @@ - - - - - - @@ -366269,12 +362745,6 @@ - - - - - - @@ -366329,12 +362799,6 @@ - - - - - - @@ -367991,12 +364455,6 @@ - - - - - - @@ -369233,12 +365691,6 @@ - - - - - - @@ -369323,66 +365775,24 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -369551,12 +365961,6 @@ - - - - - - @@ -370025,12 +366429,6 @@ - - - - - - @@ -370073,24 +366471,12 @@ - - - - - - - - - - - - @@ -370121,36 +366507,12 @@ - - - - - - - - - - - - - - - - - - - - - - - - @@ -370205,12 +366567,6 @@ - - - - - - @@ -370223,12 +366579,6 @@ - - - - - - @@ -370313,174 +366663,12 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -370493,138 +366681,18 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -371057,78 +367125,6 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -371141,12 +367137,6 @@ - - - - - - @@ -371315,12 +367305,6 @@ - - - - - - @@ -371879,12 +367863,6 @@ - - - - - - @@ -372305,12 +368283,6 @@ - - - - - - @@ -372407,12 +368379,6 @@ - - - - - - @@ -372791,12 +368757,6 @@ - - - - - - @@ -373091,12 +369051,6 @@ - - - - - - @@ -374615,12 +370569,6 @@ - - - - - - @@ -374831,12 +370779,6 @@ - - - - - - @@ -376211,12 +372153,6 @@ - - - - - - @@ -376997,12 +372933,6 @@ - - - - - - @@ -377033,12 +372963,6 @@ - - - - - - @@ -377231,12 +373155,6 @@ - - - - - - @@ -377483,12 +373401,6 @@ - - - - - - @@ -377627,12 +373539,6 @@ - - - - - - @@ -377693,12 +373599,6 @@ - - - - - - @@ -377825,18 +373725,6 @@ - - - - - - - - - - - - @@ -378395,12 +374283,6 @@ - - - - - - @@ -378749,18 +374631,6 @@ - - - - - - - - - - - - @@ -379019,12 +374889,6 @@ - - - - - - @@ -379427,12 +375291,6 @@ - - - - - - @@ -379835,12 +375693,6 @@ - - - - - - @@ -379853,12 +375705,6 @@ - - - - - - @@ -380225,12 +376071,6 @@ - - - - - - @@ -381263,12 +377103,6 @@ - - - - - - @@ -381509,12 +377343,6 @@ - - - - - - @@ -384227,12 +380055,6 @@ - - - - - - @@ -384389,12 +380211,6 @@ - - - - - - @@ -386171,12 +381987,6 @@ - - - - - - @@ -386513,12 +382323,6 @@ - - - - - - @@ -386747,12 +382551,6 @@ - - - - - - @@ -388139,12 +383937,6 @@ - - - - - - @@ -388721,138 +384513,30 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -389267,12 +384951,6 @@ - - - - - - @@ -389285,66 +384963,12 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -389639,12 +385263,6 @@ - - - - - - @@ -390419,12 +386037,6 @@ - - - - - - diff --git a/imports/hgnc_import.owl b/imports/hgnc_import.owl index 49812ef880..5a388b4c57 100644 --- a/imports/hgnc_import.owl +++ b/imports/hgnc_import.owl @@ -7,7 +7,7 @@ xmlns:xsd="http://www.w3.org/2001/XMLSchema#" xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"> - + @@ -3042,7 +3042,7 @@ - TAZ + TAFAZZIN @@ -4082,6 +4082,15 @@ + + + + + TPM4 + + + + @@ -5243,15 +5252,6 @@ - - - - - MKRN3-AS1 - - - - @@ -17901,7 +17901,7 @@ - C8orf37 + CFAP418 diff --git a/reports/basic-report.tsv b/reports/basic-report.tsv index e01c5293d8..c6f9edeab5 100644 --- a/reports/basic-report.tsv +++ b/reports/basic-report.tsv @@ -8,8 +8,8 @@ MONDO:0000519 "A oligodendroglioma that involves the corpus callosum." "DOID:005 MONDO:0100446 "A retinopathy caused by biallelic variants in the CNGB3 gene." GO:0006141 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving purines." GO:0016826 "Catalysis of the hydrolysis of any acid sulfur-nitrogen bond." -MONDO:0020124 "Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions." "ICD10:G70.0 ICD10:G70.9 ICD10:G70.2 ICD10:G70.8 SCTID:128213006 DOID:439 MESH:D020511 Orphanet:98491 UMLS:C0751950 ICD10:G70.1" -MONDO:0019860 "Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "ICD10:E03.1 OMIM:218700 UMLS:C4023190 Orphanet:95719 SCTID:715734006" +MONDO:0020124 "Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions." "ICD10CM:G70.1 SCTID:128213006 DOID:439 ICD10CM:G70.9 ICD10CM:G70.8 ICD10CM:G70.0 MESH:D020511 Orphanet:98491 ICD10CM:G70.2 UMLS:C0751950" +MONDO:0019860 "Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "OMIM:218700 ICD10CM:E03.1 UMLS:C4023190 Orphanet:95719 SCTID:715734006" GO:0035933 "The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood." http://identifiers.org/hgnc/25843 MONDO:0016939 "Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "MESH:C538318 UMLS:C0795803 GARD:0005337 Orphanet:262698" @@ -18,7 +18,7 @@ ENVO:01001068 "An astronomical body which is composed of rocky or metallic mater UBERON:0012478 MONDO:0021090 "An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells." "UMLS:C1517894 NCIT:C40365 DOID:7076" MONDO:0005324 "Allergic rhinitis caused by outdoor allergens." "NCIT:C92188 MESH:D006255 SCTID:367498001 EFO:0003956" -MONDO:0015993 "Inherited retinal dystrophies that belong to the group of pigmentary retinopathies." "OMIM:615860 OMIM:616502 OMIM:612657 OMIM:614500 OMIM:600624 OMIM:604393 OMIM:300834 OMIM:610283 OMIM:600977 OMIM:120970 OMIM:608194 OMIM:613660 Orphanet:1872 OMIM:615374 OMIM:602093 OMIMPS:120970 GARD:0010790 OMIM:610478 OMIM:304020 OMIM:615973 DOID:0050572 ICD10:H35.5 OMIM:612775 OMIM:601777 OMIM:303700 OMIM:604116 OMIM:615163 OMIM:610381 OMIM:603649 OMIM:300476 OMIM:605549" +MONDO:0015993 "Inherited retinal dystrophies that belong to the group of pigmentary retinopathies." "OMIM:615860 OMIM:616502 OMIM:612657 OMIM:614500 OMIM:600624 OMIM:604393 ICD10CM:H35.5 OMIM:300834 OMIM:610283 OMIM:600977 OMIM:120970 OMIM:608194 OMIM:613660 Orphanet:1872 OMIM:615374 OMIM:602093 OMIMPS:120970 GARD:0010790 OMIM:610478 OMIM:304020 OMIM:615973 DOID:0050572 OMIM:612775 OMIM:601777 OMIM:303700 OMIM:604116 OMIM:615163 OMIM:610381 OMIM:603649 OMIM:300476 OMIM:605549" MONDO:0002424 "A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area." "NCIT:C7421 UMLS:C1327709 DOID:2781" MONDO:0004127 "A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." "UMLS:C1335096 DOID:7168 NCIT:C6699" CHEBI:79314 "Any compound that is added to manufactured materials to inhibit, suppress, or delay the production of flames and so prevent the spread of fire." @@ -28,7 +28,7 @@ CL:0002063 "A type II pneumocyte is a pneumocyte that modulates the fluid surrou http://identifiers.org/hgnc/7376 CHEBI:71392 "An organic anion that is the conjugate base of tetracycline obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group." GO:0006974 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism." -MONDO:0012422 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3." "OMIM:610155 MESH:C565715 UMLS:C1857808 DOID:0110756 ICD10:E10" +MONDO:0012422 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3." "OMIM:610155 MESH:C565715 UMLS:C1857808 DOID:0110756" ENVO:00000002 "An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature." GO:0051886 "Any process that stops, prevents, or reduces the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle." http://identifiers.org/hgnc/8574 @@ -38,42 +38,42 @@ MONDO:0008648 "An instance of ventricular tachycardia that is caused by an inher MONDO:0029140 "OMIM:618143" MONDO:0045053 "A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma." "NCIT:C6603" UBERON:0012477 -MONDO:0009039 "Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius)." "Orphanet:1225 DOID:0050654 SCTID:77608001 UMLS:C0265308 MESH:C536788 GARD:0001602 OMIM:218600 ICD10:Q75.0" +MONDO:0009039 "Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius)." "Orphanet:1225 DOID:0050654 SCTID:77608001 UMLS:C0265308 MESH:C536788 GARD:0001602 OMIM:218600 ICD10CM:Q75.0" HP:0012444 "Partial or complete wasting (loss) of brain tissue that was once present." "SNOMEDCT_US:278849000 SNOMEDCT_US:418143002 SNOMEDCT_US:52522001 UMLS:C0154671 UMLS:C0235946" http://identifiers.org/hgnc/6176 MONDO:0006241 "A granuloma located in the liver." "EFO:1000291 SCTID:714253009 ICD9:572.8 NCIT:C4936 UMLS:C0745754" GO:0035636 "OBSOLETE. The transfer of information between living organisms." NCBITaxon:1513 "GC_ID:11" -MONDO:0015234 "Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability." "UMLS:C2931398 MESH:C537024 Orphanet:1129 ICD10:Q87.8 SCTID:720501007 GARD:0000381" +MONDO:0015234 "Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability." "UMLS:C2931398 MESH:C537024 Orphanet:1129 ICD10CM:Q87.8 SCTID:720501007 GARD:0000381" http://identifiers.org/hgnc/7373 UBERON:0012476 MONDO:0002423 "A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "NCIT:C4877 UMLS:C0345873 SCTID:126848003 DOID:2780" UBERON:0014871 -MONDO:0017467 "Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee." "ICD10:Q74.2 SCTID:737581000 Orphanet:295028" +MONDO:0017467 "Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee." "SCTID:737581000 ICD10CM:Q74.2 Orphanet:295028" HP:0012415 "An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood." "UMLS:C0476337 SNOMEDCT_US:312391003" MONDO:0029141 "OMIM:618144" MONDO:0015860 "Orphanet:180208" -MONDO:0019762 "Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections." "UMLS:CN206697 Orphanet:93939 ICD10:Q32.1" +MONDO:0019762 "Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections." "UMLS:CN206697 Orphanet:93939 ICD10CM:Q32.1" HsapDv:0000112 "Adolescent stage that refers to an adolescent who is over 18 and under 19 years old." -MONDO:0012626 "Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene." "DOID:0070118 ICD10:Q61.9 Orphanet:564 OMIM:611134 UMLS:C1970161" +MONDO:0012626 "Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene." "DOID:0070118 Orphanet:564 OMIM:611134 UMLS:C1970161" GO:1905902 "Any process that modulates the frequency, rate or extent of mesoderm formation." MONDO:0009583 "Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability." "UMLS:C0796094 ICD9:525.8 OMIM:249620 Orphanet:2728 ICD9:374.89 SCTID:412787009" MONDO:0004455 "A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation." "DOID:8083 UMLS:C1516475 NCIT:C39814" -MONDO:0010798 "Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus." "ICD10:Q87.8 UMLS:C3151959 GARD:0004532 MESH:C564014 OMIM:560000 Orphanet:3390" +MONDO:0010798 "Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus." "UMLS:C3151959 ICD10CM:Q87.8 GARD:0004532 MESH:C564014 OMIM:560000 Orphanet:3390" http://identifiers.org/hgnc/2472 -MONDO:0014160 "A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta." "UMLS:C3809332 Orphanet:397959 ICD10:D84.8 OMIM:615387 DOID:0111977" -MONDO:0019342 "A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a \"bird-headed\" facial appearance." "OMIM:616051 ICD10:Q87.1 OMIM:614851 OMIM:615807 OMIM:616171 Orphanet:808 OMIMPS:210600 OMIM:613823 GARD:0008562 OMIM:616777 OMIM:210600 SCTID:57917004 OMIM:614728 OMIM:606744 OMIM:613676 OMIM:600546 DOID:0050569 NCIT:C125488 UMLS:C0265202 ICD9:759.89" +MONDO:0014160 "A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta." "UMLS:C3809332 Orphanet:397959 ICD10CM:D84.8 OMIM:615387 DOID:0111977" +MONDO:0019342 "A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a \"bird-headed\" facial appearance." "OMIM:616051 ICD10CM:Q87.1 OMIM:614851 OMIM:615807 OMIM:616171 Orphanet:808 OMIMPS:210600 OMIM:613823 GARD:0008562 OMIM:616777 OMIM:210600 SCTID:57917004 OMIM:614728 OMIM:606744 OMIM:613676 OMIM:600546 DOID:0050569 NCIT:C125488 UMLS:C0265202 ICD9:759.89" GO:0051968 "Any process that activates, maintains or increases the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate." MONDO:0003729 "Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process." "DOID:6003 NCIT:C4983 UMLS:C0887846 GARD:0006892" MONDO:0003896 "A capillary hemangioma arising from the breast." "UMLS:C1332619 NCIT:C5210 DOID:6491" UBERON:0010070 MONDO:0003050 "A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection." "SCTID:254629004 NCIT:C4450 EFO:1000016 ONCOTREE:LCLC EFO:0003050 UMLS:C0345958 DOID:4556 ICD9:162.9" -MONDO:0005326 "An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering." "EFO:0003958 NCIT:C3395 MESH:D013471 ICD9:692.71 ICD10:L55 SCTID:403194002" +MONDO:0005326 "An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering." "EFO:0003958 NCIT:C3395 MESH:D013471 ICD9:692.71 ICD10CM:L55 SCTID:403194002" http://identifiers.org/hgnc/3671 UBERON:0012475 NCBITaxon:89593 "GC_ID:1" MONDO:0014771 "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene." "DOID:0110995 UMLS:C4084843 OMIM:616784" -MONDO:0013150 "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." "UMLS:C2751067 SCTID:722763000 OMIMPS:613135 MESH:C567730 NCIT:C129866 GARD:0010484 Orphanet:238455" +MONDO:0013150 "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." "UMLS:C2751067 SCTID:722763000 OMIMPS:613135 OMIM:613135 MESH:C567730 NCIT:C129866 GARD:0010484 Orphanet:238455" CHEBI:50903 "A role played by a chemical compound which is known to induce a process of carcinogenesis by corrupting normal cellular pathways, leading to the acquistion of tumoral capabilities." FOODON:03400172 "Food product that is 1) ready or nearly ready for consumption; 2) usually a composite of several foods or ingredients that often belong to distinct product types; 3) usually formulated, mixed and partially or fully cooked. Prepared foods often undergo several of the processes listed in *F. EXTENT OF HEAT TREATMENT* and *H. TREATMENT APPLIED*; these factors should be carefully considered in indexing. The classification of prepared food products emphasizes consumption characteristics. [FDA CFSAN 1995]"@en "http://www.langual.org/langual_thesaurus.asp?termid=A0172" GO:0005975 "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule." @@ -83,39 +83,39 @@ GO:2001141 "Any process that modulates the frequency, rate or extent of RNA bios MONDO:0024882 "A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment." "NCIT:C36255" http://identifiers.org/hgnc/2475 UBERON:0003849 -MONDO:0014109 "A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities." "ICD10:E77.8 UMLS:C3808991 DOID:0060728 OMIM:615273 GARD:0012315 SCTID:768846004 NCIT:C126746 Orphanet:404454" -MONDO:0013006 "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively." "OMIM:612781 Orphanet:631 DOID:0060874 GARD:0003919 Orphanet:231671 MESH:C567564 UMLS:C2748571 ICD10:E23.0" +MONDO:0014109 "A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities." "UMLS:C3808991 DOID:0060728 OMIM:615273 GARD:0012315 SCTID:768846004 NCIT:C126746 ICD10CM:E77.8 Orphanet:404454" +MONDO:0013006 "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively." "ICD10CM:E23.0 OMIM:612781 Orphanet:631 DOID:0060874 GARD:0003919 Orphanet:231671 MESH:C567564 UMLS:C2748571" MONDO:0006065 "Adult onset lactose intolerance" "EFO:1000063 OMIM:223100 Orphanet:319681" PATO:0002103 "A structural quality inhering in a bearer by virtue of the bearer's penetrating or permeating another substance or area." http://identifiers.org/hgnc/6174 UBERON:0005145 -MONDO:0017375 "Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn." "ICD10:P35.8 UMLS:C4274223 Orphanet:292 SCTID:716865000" +MONDO:0017375 "Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn." "ICD10CM:P35.8 UMLS:C4274223 Orphanet:292 SCTID:716865000" GO:0051175 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur." HP:0004905 "A reduced concentration of vitamin A." "UMLS:C0042842 SNOMEDCT_US:72000004 MSH:D014802" -MONDO:0018172 "Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis." "UMLS:C1334609 NCIT:C8053 Orphanet:35808 ICD10:C56 UMLS:CN204631" -MONDO:0002965 "A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni)." "ICD10:Q50.5 UMLS:C0030584 SCTID:64233004 MESH:D010310 ICD10:Q50.4 DOID:4333" +MONDO:0018172 "Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis." "UMLS:C1334609 NCIT:C8053 Orphanet:35808 ICD10CM:C56 UMLS:CN204631" +MONDO:0002965 "A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni)." "UMLS:C0030584 ICD10CM:Q50.4 SCTID:64233004 MESH:D010310 DOID:4333" CHEBI:16716 "A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system." UBERON:0010071 -MONDO:0011816 "Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." "GARD:0009711 MESH:C537880 UMLS:C1846421 SCTID:719257008 Orphanet:46059 ICD10:Q87.8 OMIM:607330" +MONDO:0011816 "Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease." "GARD:0009711 MESH:C537880 UMLS:C1846421 SCTID:719257008 ICD10CM:Q87.8 Orphanet:46059 OMIM:607330" MONDO:0001192 "A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)" "ONCOTREE:ESMM DOID:1108 UMLS:C1333460 NCIT:C5707" MONDO:0032797 "OMIM:618524" NCBITaxon:1773 "GC_ID:11 PMID:29205127" http://identifiers.org/hgnc/3672 MONDO:0006219 "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." "EFO:1000266 NCIT:C6763 DOID:7133 UMLS:C1333759" MONDO:0029144 "OMIM:618148" -MONDO:0012652 "A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood." "GARD:0012536 ICD10:G71.0 DOID:0110284 MESH:C566968 Orphanet:206549 OMIM:611307 UMLS:C1969785" +MONDO:0012652 "A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood." "GARD:0012536 ICD10CM:G71.0 DOID:0110284 MESH:C566968 Orphanet:206549 OMIM:611307 UMLS:C1969785" MONDO:0009951 "OMIM:266250 UMLS:C1849471 MESH:C564857" UBERON:0011270 http://identifiers.org/hgnc/30791 MONDO:0010477 "The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males." "SCTID:699297004 Orphanet:293707 UMLS:C3698541 ICD9:759.89 OMIM:300895" -MONDO:0011883 "Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age." "GARD:0010163 MESH:C536220 ICD10:Q82.8 Orphanet:307766 OMIM:607656" +MONDO:0011883 "Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age." "GARD:0010163 ICD10CM:Q82.8 MESH:C536220 Orphanet:307766 OMIM:607656" UBERON:0005146 -MONDO:0009012 "Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988." "GARD:0003361 Orphanet:2215 MESH:C565679 OMIM:217150 UMLS:C1857576 ICD10:Q87.8" +MONDO:0009012 "Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988." "ICD10CM:Q87.8 GARD:0003361 Orphanet:2215 MESH:C565679 OMIM:217150 UMLS:C1857576" MONDO:0004021 "A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma." "UMLS:C1334665 NCIT:C6633 DOID:6868" -MONDO:0005154 "A disease involving the liver." "UMLS:C0023895 NCIT:C50634 ICD9:573.8 MESH:D008107 ICD10:K76.9 ICD10:K70-K77 DOID:409 EFO:0001421 SCTID:235856003 ICD9:573.9 NCIT:C3196" +MONDO:0005154 "A disease involving the liver." "UMLS:C0023895 NCIT:C50634 ICD9:573.8 MESH:D008107 DOID:409 EFO:0001421 SCTID:235856003 ICD9:573.9 ICD10CM:K70-K77 NCIT:C3196" UBERON:0006349 MONDO:0002435 "A neoplasm involving a oculomotor nerve." "NCIT:C6994 SCTID:126969002 ICD9:239.7 DOID:2817 UMLS:C1263895" -MONDO:0019854 "Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "Orphanet:95712 ICD10:E03.1 OMIM:225250 OMIM:218700" +MONDO:0019854 "Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "Orphanet:95712 ICD10CM:E03.1 OMIM:225250 OMIM:218700" http://identifiers.org/hgnc/3673 MONDO:0032796 "OMIM:618523 DOID:0080596" http://identifiers.org/hgnc/7372 @@ -127,7 +127,7 @@ MONDO:0020017 "OBSOLETE. Any of the forms of otorhinolaryngologic disease that h HP:0012828 "Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean." "SNOMEDCT_US:24484000 UMLS:C0205082" MONDO:0029145 "OMIM:618149 DOID:0080401" UBERON:0005147 -MONDO:0011144 "A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "GARD:0001224 Orphanet:228363 MESH:C566627 OMIM:601780 ICD10:E75.4 Orphanet:168491 Orphanet:79262 DOID:0110729" +MONDO:0011144 "A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "GARD:0001224 Orphanet:228363 MESH:C566627 OMIM:601780 ICD10CM:E75.4 Orphanet:168491 Orphanet:79262 DOID:0110729" GO:0098794 "The part of a synapse that is part of the post-synaptic cell." http://identifiers.org/hgnc/2211 GO:0009966 "Any process that modulates the frequency, rate or extent of signal transduction." @@ -141,12 +141,12 @@ MONDO:0030134 "OMIM:618940" HP:0030956 "An anomaly of the electrical conduction physiology of the heart." MONDO:0100104 "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene." "DOID:0111379 OMIM:618393" http://identifiers.org/hgnc/6172 -MONDO:0018088 "Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." "MESH:D010505 DOID:2987 SCTID:12579009 OMIM:249100 UMLS:C0031069 MedDRA:10016207 ICD9:277.31 Orphanet:342 ICD10:E85.0 OMIM:134610 NCIT:C84707 GARD:0006421" +MONDO:0018088 "Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." "MESH:D010505 DOID:2987 SCTID:12579009 OMIM:249100 UMLS:C0031069 MedDRA:10016207 ICD9:277.31 ICD10CM:E85.0 Orphanet:342 OMIM:134610 NCIT:C84707 GARD:0006421" CHEBI:52206 "A biological role played by the molecular entity or part thereof within a biochemical context." MONDO:0004491 "An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." "UMLS:C1336904 NCIT:C27246 ONCOTREE:UCCA DOID:8188" NCBITaxon:11250 "GC_ID:1" MONDO:0015305 "OBSOLETE. Rare endometriosis." "SCTID:237117005 Orphanet:137820 UMLS:C0404545" -MONDO:0009704 "The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency." "OMIM:255110 Orphanet:157 UMLS:C1833508 MESH:C563461 ICD10:E71.3 Orphanet:228302" +MONDO:0009704 "The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency." "ICD10CM:E71.3 OMIM:255110 Orphanet:157 UMLS:C1833508 MESH:C563461 Orphanet:228302" MONDO:0029146 http://identifiers.org/hgnc/2210 UBERON:0005148 @@ -160,18 +160,18 @@ http://identifiers.org/hgnc/1012 MONDO:0032798 "OMIM:618527" UBERON:0006347 NCBITaxon:169440 "GC_ID:1" -MONDO:0011893 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32." "MESH:C564348 UMLS:C1843232 OMIM:607683 Orphanet:90635 DOID:0110578 ICD10:H90.3" +MONDO:0011893 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32." "MESH:C564348 UMLS:C1843232 OMIM:607683 Orphanet:90635 DOID:0110578" MONDO:0002139 "Pathological processes in the sigmoid colon region of the large intestine (intestine, large)." "UMLS:C0037072 DOID:1897 MESH:D012810" MONDO:0008751 "SCTID:47757001 DOID:0080626 UMLS:CN074214 Orphanet:427 GARD:0005660 OMIM:203400 Orphanet:99763" UBERON:0010074 http://identifiers.org/hgnc/6171 -MONDO:0011257 "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)." "ICD9:277.6 OMIM:602579 Orphanet:79319 SCTID:124668009 DOID:0080554 ICD10:E77.8 GARD:0009830 MESH:C535740" +MONDO:0011257 "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)." "ICD9:277.6 OMIM:602579 Orphanet:79319 ICD10CM:E77.8 SCTID:124668009 DOID:0080554 GARD:0009830 MESH:C535740" MONDO:0013278 "Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene." "UMLS:C3150732 DOID:0070208 Orphanet:79452 OMIM:613480" MONDO:0016802 "UMLS:CN227003 Orphanet:254834" GO:0051608 "The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans." MONDO:0013585 "Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene." "UMLS:C3279899 OMIM:614120 Orphanet:2189 DOID:0111356" UBERON:0011273 -MONDO:0014637 "ICD10:D81.8 GARD:0012653 UMLS:C4225328 OMIM:616433 Orphanet:447737" +MONDO:0014637 "ICD10CM:D81.8 GARD:0012653 UMLS:C4225328 OMIM:616433 Orphanet:447737" MONDO:0005468 "Blood pressure that is abnormally low." "EFO:0005251 NCIT:C3128 ICD9:458.9 HP:0002615 SCTID:45007003 ICD9:458.8 ICD9:458 MESH:D007022" GO:0006743 "The chemical reactions and pathways involving ubiquinone, a lipid-soluble electron-transporting coenzyme." GO:0046878 "Any process that activates or increases the frequency, rate or extent of the regulated release of saliva." @@ -179,25 +179,25 @@ http://identifiers.org/hgnc/30794 UBERON:0035004 MONDO:0020597 "An angiokeratoma that is located on the scrotum." "SCTID:735082004 NCIT:C7752" MONDO:0005545 "An infectious process in which the bacteria Staphylococcus aureus is present." "NCIT:C122576 NCIT:C35038 EFO:0005681 SCTID:406602003" -MONDO:0007850 "Autosomal dominant form of KID syndrome." "OMIM:148210 UMLS:C0265336 Orphanet:477 ICD10:Q80.8 DOID:0060871" +MONDO:0007850 "Autosomal dominant form of KID syndrome." "OMIM:148210 UMLS:C0265336 Orphanet:477 DOID:0060871" MONDO:0006405 "An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures." "EFO:1000519 UMLS:C1335982 NCIT:C35703" MONDO:0009956 "OMIM:266350 GARD:0009757 UMLS:C1849451 MESH:C535515" -MONDO:0004966 "Inflammation of the stomach." "UMLS:C2243088 DOID:4029 ICD9:535.40 NCIT:C26780 HP:0005263 ICD9:535.00 MESH:D005756 ICD9:535.41 ICD9:535.01 ICD10:K29.7 UMLS:C2243090 ICD9:535.4 ICD9:535.0 UMLS:C3854048 UMLS:C0267112 UMLS:C0017152 SCTID:4556007 EFO:0000217" +MONDO:0004966 "Inflammation of the stomach." "UMLS:C2243088 DOID:4029 ICD9:535.40 NCIT:C26780 HP:0005263 ICD9:535.00 MESH:D005756 ICD9:535.41 ICD9:535.01 UMLS:C2243090 ICD9:535.4 ICD9:535.0 UMLS:C3854048 UMLS:C0267112 UMLS:C0017152 SCTID:4556007 EFO:0000217" http://identifiers.org/hgnc/12637 MONDO:0004385 "A xanthogranuloma that occurs in an adult." "UMLS:C1332220 NCIT:C27514 DOID:7875" MONDO:0032793 "OMIM:618512" NCBITaxon:785 "GC_ID:11" MONDO:0017166 "Orphanet:276142" NCBITaxon:135624 "PMID:16280474 GC_ID:11" -MONDO:0015604 "ICD10:Q16.4 Orphanet:164004 MedDRA:10060957 ICD10:Q16.3" +MONDO:0015604 "ICD10CM:Q16.4 Orphanet:164004 MedDRA:10060957 ICD10CM:Q16.3" CL:0009034 "A dendritic cell that is located in a vermiform appendix." UBERON:0010075 UBERON:0003844 -MONDO:0003227 "Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury." "NCIT:C85031 DOID:4970 HP:0010528 ICD10:R48.3" +MONDO:0003227 "Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury." "NCIT:C85031 DOID:4970 HP:0010528" MONDO:0018365 "UMLS:CN205032 Orphanet:398940" -MONDO:0007716 "Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." "ICD10:D56.0 DOID:0110029 ICD9:282.49 SCTID:277918006 Orphanet:98791 UMLS:C0475813 OMIM:141750 MESH:C563050 UMLS:C0795917" +MONDO:0007716 "Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." "DOID:0110029 ICD10CM:D56.0 ICD9:282.49 SCTID:277918006 Orphanet:98791 UMLS:C0475813 OMIM:141750 MESH:C563050 UMLS:C0795917" GO:0042303 "The periodic casting off and regeneration of an outer covering of cuticle, feathers, hair, horns, skin, etc." -MONDO:0001382 "Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant." "NCIT:C113400 GARD:0006610 UMLS:C0019212 ICD10:K76.7 DOID:11823 MESH:D006530 ICD9:572.4 SCTID:51292008" +MONDO:0001382 "Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant." "NCIT:C113400 ICD10CM:K76.7 GARD:0006610 UMLS:C0019212 DOID:11823 MESH:D006530 ICD9:572.4 SCTID:51292008" MONDO:0005194 "Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice." "EFO:0002622 UMLS:C0035869 SCTID:18624000 ICD9:078.89 MESH:D012400" UBERON:0001449 MONDO:0016801 "UMLS:CN227002 Orphanet:254830" @@ -207,9 +207,9 @@ UBERON:0034905 MONDO:0004507 "An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia." "NCIT:C36089 DOID:8227 UMLS:C1332346" HP:0030222 "Difficulty in recognizing objects by visual input in absence of sensorial visual impairment." "UMLS:C0234502 SNOMEDCT_US:25762009 MSH:D000377" MONDO:0000603 "A hypersensitivity reaction type II disease that involves the cardiovascular system." "DOID:0060051" -MONDO:0008587 "Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi." "ICD10:J98.0 SCTID:54675009 GARD:0005235 Orphanet:3348 OMIM:189961 MESH:C536977 UMLS:CN204359" +MONDO:0008587 "Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi." "ICD10CM:J98.0 SCTID:54675009 GARD:0005235 Orphanet:3348 OMIM:189961 MESH:C536977 UMLS:CN204359" NCBITaxon:784 "PMID:1906730 PMID:8590688 GC_ID:11" -MONDO:0017167 "Orphanet:276145 ICD10:C08.0 UMLS:CN202591 ICD10:C08.8 ICD10:C07 ICD10:C08.1" +MONDO:0017167 "Orphanet:276145 ICD10CM:C07 UMLS:CN202591 ICD10CM:C08.1 ICD10CM:C08.0" MONDO:0023045 "GARD:0002042" MONDO:0032792 "OMIM:618511" MONDO:0030399 "OMIM:619465" @@ -218,34 +218,34 @@ http://identifiers.org/hgnc/14198 MONDO:0015603 "UMLS:CN226712 Orphanet:164001" UBERON:0003845 HP:0025580 "Any structural abnormality of the right atrium." "Fyler:1770" -MONDO:0011572 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1." "OMIM:605598 UMLS:C1854125 ICD10:E10 DOID:0110755 MESH:C565315" +MONDO:0011572 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1." "OMIM:605598 UMLS:C1854125 DOID:0110755 MESH:C565315" MONDO:0022946 "GARD:0001702" -MONDO:0009954 "GARD:0007523 MESH:C535285 OMIM:266270 ICD10:Q87.8 Orphanet:3019 UMLS:C0796133" +MONDO:0009954 "GARD:0007523 MESH:C535285 OMIM:266270 ICD10CM:Q87.8 Orphanet:3019 UMLS:C0796133" MONDO:0016800 "UMLS:CN227001 Orphanet:254827" UBERON:0003847 MONDO:0006274 "An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014)" "NCIT:C4760 EFO:1000330 UMLS:C0495106" MONDO:0003187 "A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns." "DOID:4879 NCIT:C40295 UMLS:C1511047" -MONDO:0005009 "Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales." "ICD9:428.9 ICD10:I50.0 ICD10:I50 ICD9:404.13 ICD9:404.01 NCIT:C3080 ICD9:428 SCTID:42343007 SCTID:84114007 EFO:0000373 MESH:D006333 DOID:6000 ICD9:428.0 ICD10:I50.9 ICD9:404.11 UMLS:C0018802 NCIT:C50577" -MONDO:0001564 "Any inability to efficiently utilize and/or sustain binocular vision." "ICD9:368.30 ICD10:H53.30 NCIT:C34422 SCTID:83275001 DOID:12667" +MONDO:0005009 "Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales." "ICD9:428.9 ICD9:404.13 ICD9:404.01 NCIT:C3080 ICD9:428 SCTID:42343007 SCTID:84114007 EFO:0000373 MESH:D006333 DOID:6000 ICD9:428.0 ICD9:404.11 UMLS:C0018802 NCIT:C50577" +MONDO:0001564 "Any inability to efficiently utilize and/or sustain binocular vision." "ICD9:368.30 NCIT:C34422 SCTID:83275001 DOID:12667" HP:0002156 "An increased concentration of homocystine in the urine." "SNOMEDCT_US:11282001 UMLS:C0019880 MSH:D006712" ECTO:0010000 "A exposure event involving the interaction of an exposure receptor to quality." UBERON:0010911 -MONDO:0010792 "Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures." "ICD10:G71.3 SCTID:766251006 UMLS:C1838876 Orphanet:254857 MESH:C564017 OMIM:551000" +MONDO:0010792 "Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures." "SCTID:766251006 UMLS:C1838876 Orphanet:254857 MESH:C564017 ICD10CM:G71.3 OMIM:551000" MONDO:0032795 "OMIM:618522" MONDO:0015602 "UMLS:CN199975 Orphanet:163988" -MONDO:0017164 "UMLS:CN202586 Orphanet:275944 ICD10:P55.8" -MONDO:0010078 "An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia." "ICD10:Q77.7 ICD9:758.89 Orphanet:1856 UMLS:C0796173 GARD:0004994 OMIM:271700 NCIT:C135088 SCTID:702339001 MESH:C535799" +MONDO:0017164 "UMLS:CN202586 ICD10CM:P55.8 Orphanet:275944" +MONDO:0010078 "An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia." "ICD9:758.89 Orphanet:1856 GARD:0004994 UMLS:C0796173 OMIM:271700 NCIT:C135088 SCTID:702339001 ICD10CM:Q77.7 MESH:C535799" MONDO:0023042 "GARD:0002050" -MONDO:0015833 "Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated." "ICD10:Q51.4 Orphanet:180079" -MONDO:0012700 "Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia." "UMLS:C1969038 ICD10:N25.8 OMIM:611590 Orphanet:18 Orphanet:93610" +MONDO:0015833 "Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated." "ICD10CM:Q51.4 Orphanet:180079" +MONDO:0012700 "Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia." "UMLS:C1969038 OMIM:611590 Orphanet:18 ICD10CM:N25.8 Orphanet:93610" NCBITaxon:787 "PMID:11034486 GC_ID:11" MONDO:0004897 "Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye." "NCIT:C42086 DOID:9841 UMLS:C0152208 ICD9:378.32 SCTID:29491004" MONDO:0006646 "A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels." "UMLS:C0206653 ICDO:8894/0 NCIT:C3747 MESH:D018229 EFO:1000806 DOID:4265 EFO:1000084" UBERON:0010077 CL:0002538 "An epithelial cell of the intrahepatic portion of the bile duct. These cells are flattened or cuboidal in shape, and have a small nuclear-to-cytoplasmic ratio relative to large/extrahepatic cholangiocytes." -MONDO:0010221 "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." "SCTID:720639008 OMIM:280000 GARD:0000310 ICD10:Q87.8 Orphanet:3474 UMLS:C1848392 MESH:C536729" -MONDO:0018362 "ICD10:G50.1 Orphanet:398147" -MONDO:0015059 "Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." "NCIT:C85025 MedDRA:10029542 GARD:0010793 Orphanet:100070 ICD10:G31.0 OMIM:607485 MESH:D057178 SCTID:716281000 OMIM:600274" +MONDO:0010221 "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." "SCTID:720639008 ICD10CM:Q87.8 OMIM:280000 GARD:0000310 Orphanet:3474 UMLS:C1848392 MESH:C536729" +MONDO:0018362 "Orphanet:398147" +MONDO:0015059 "Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved." "NCIT:C85025 MedDRA:10029542 GARD:0010793 Orphanet:100070 OMIM:607485 MESH:D057178 SCTID:716281000 ICD10CM:G31.0 OMIM:600274" MONDO:0022945 "GARD:0001701" MONDO:0015223 "OBSOLETE. Rare anemia." "Orphanet:108997" CL:0000119 "Large intrinsic neuron located in the granule layer of the cerebellar cortex that extends its dendrites into the molecular layer where they receive contact from parallel fibers. The axon of the Golgi cell ramifies densely in the granule layer and enters into a complex arrangement with mossy fiber terminals and granule cell dendrites to form the cerebellar glomerulus. Llinas, Walton and Lang. In The Synaptic Organization of the Brain. 5th ed. 2004." @@ -261,12 +261,12 @@ MONDO:0021746 "EFO:1001835 UMLS:C0034184 MESH:D053653" NCBITaxon:520 "GC_ID:11 PMID:8240949" MONDO:0023043 "UMLS:C2931691 MESH:C538016 GARD:0002040" MONDO:0002286 "A disease involving the renal artery." "UMLS:C0268790 ICD9:593.81 UMLS:C3640053 SCTID:16934004 DOID:2388 NCIT:C101254" -MONDO:0019229 "An acquired metabolic disease that is has its basis in the disruption of ketone body catabolic process." "UMLS:CN227594 Orphanet:79183 ICD10:E71.3" +MONDO:0019229 "An acquired metabolic disease that is has its basis in the disruption of ketone body catabolic process." "UMLS:CN227594 Orphanet:79183 ICD10CM:E71.3" MONDO:0032794 "OMIM:618513" -MONDO:0019795 "Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal." "ICD10:Q00.0 Orphanet:945 MESH:C535570 SCTID:203923004 GARD:0000361 UMLS:C2930936" -MONDO:0009914 "Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy." "SCTID:254058002 UMLS:C0432206 GARD:0009463 MESH:C535826 Orphanet:85174 ICD9:756.9 ICD10:Q78.8 OMIM:264180" +MONDO:0019795 "Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal." "Orphanet:945 MESH:C535570 ICD10CM:Q00.0 SCTID:203923004 GARD:0000361 UMLS:C2930936" +MONDO:0009914 "Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy." "SCTID:254058002 UMLS:C0432206 GARD:0009463 ICD10CM:Q78.8 MESH:C535826 Orphanet:85174 ICD9:756.9 OMIM:264180" MONDO:0030397 "OMIM:619463" -MONDO:0008755 "ICD10:G40.4 GARD:0000606 OMIM:203600 Orphanet:2574 MESH:C537052" +MONDO:0008755 "ICD10CM:G40.4 GARD:0000606 OMIM:203600 Orphanet:2574 MESH:C537052" NCBITaxon:786 "GC_ID:11" ECTO:0000515 "An exposure to herbicide." MONDO:0021388 "A neoplasm (disease) that involves the chest wall." "SCTID:126640008 NCIT:C4929 UMLS:C1290309 ICD9:239.89" @@ -274,12 +274,12 @@ HsapDv:0000104 "Child stage that refers to a child who is over 10 and under 11 y http://identifiers.org/hgnc/329 MONDO:0007557 "SCTID:2689001 DOID:0111347 ICD9:757.39 MESH:C562638 OMIM:132000" MONDO:0005354 "Chronic form of hepatitis C infection." "ICD9:070.44 SCTID:128302006 EFO:0004220 MESH:D019698" -MONDO:0013301 "Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." "UMLS:C1960539 MESH:C537436 OMIM:613546 Orphanet:91 ICD10:E25.8 GARD:0000365 NCIT:C120144" +MONDO:0013301 "Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." "ICD10CM:E25.8 UMLS:C1960539 MESH:C537436 OMIM:613546 Orphanet:91 GARD:0000365 NCIT:C120144" HP:0001654 "Any structural abnormality of a cardiac valve." "UMLS:C0018824 UMLS:C0241654 SNOMEDCT_US:368009 MSH:D006349" UBERON:0010913 UBERON:0011277 GO:0061134 "Binds to and modulates the activity of a peptidase, any enzyme that catalyzes the hydrolysis peptide bonds." -MONDO:0011625 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22." "UMLS:C1853760 OMIM:606012 MESH:C565267 ICD10:H90.3 Orphanet:90635 DOID:0110549" +MONDO:0011625 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22." "UMLS:C1853760 OMIM:606012 MESH:C565267 Orphanet:90635 DOID:0110549" ECTO:7000073 "A exposure event involving the interaction of an exposure receptor to mineral material." MONDO:0004313 "A meningioma that affects the trigeminal ganglion." "NCIT:C6779 DOID:7635 UMLS:C1333760" http://identifiers.org/hgnc/7114 @@ -287,18 +287,18 @@ NCBITaxon:781 "PMID:15879256 PMID:15766388 GC_ID:11" MONDO:0015866 CHR:9606-chrXq22.3 MONDO:0014170 "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene." "DOID:0090134 OMIM:615411 UMLS:C3809414" -MONDO:0010020 "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene." "ICD10:E88.1 Orphanet:528 DOID:0111136 GARD:0010212 OMIM:269700" +MONDO:0010020 "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene." "Orphanet:528 DOID:0111136 GARD:0010212 OMIM:269700" UBERON:0001445 MONDO:0004333 "A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor." "ICDO:8158/1 DOID:7697 UMLS:C1335300 NCIT:C27466" UBERON:0003840 MONDO:0023048 "UMLS:C1857068 GARD:0002053" UBERON:0034909 -MONDO:0009920 "Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." "Orphanet:2980 UMLS:C1849661 OMIM:264475 ICD10:Q87.0 SCTID:720410001 MESH:C564866" -MONDO:0009395 "Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies." "GARD:0002833 OMIM:607636 SCTID:59763006 OMIM:239100 Orphanet:3416 NCIT:C131812 ICD10:M85.2 DOID:0080036" -MONDO:0005130 "An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet." "OMIM:609754 OMIM:609755 ICD9:579.0 MESH:D002446 UMLS:C0007570 OMIM:611598 SCTID:396331005 OMIM:612009 OMIM:612006 OMIM:609753 OMIM:612007 GARD:0011998 NCIT:C26714 Orphanet:555 OMIMPS:212750 ICD10:K90.0 OMIM:612011 OMIM:612008 EFO:0001060 OMIM:212750 OMIM:612005 DOID:10608 OMIM:607202" +MONDO:0009920 "Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies." "Orphanet:2980 UMLS:C1849661 ICD10CM:Q87.0 OMIM:264475 SCTID:720410001 MESH:C564866" +MONDO:0009395 "Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies." "GARD:0002833 OMIM:607636 SCTID:59763006 ICD10CM:M85.2 OMIM:239100 Orphanet:3416 NCIT:C131812 DOID:0080036" +MONDO:0005130 "An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet." "OMIM:609754 OMIM:609755 ICD9:579.0 MESH:D002446 UMLS:C0007570 OMIM:611598 SCTID:396331005 OMIM:612009 OMIM:612006 OMIM:609753 ICD10CM:K90.0 OMIM:612007 GARD:0011998 NCIT:C26714 Orphanet:555 OMIMPS:212750 OMIM:612011 OMIM:612008 EFO:0001060 OMIM:212750 OMIM:612005 DOID:10608 OMIM:607202" UBERON:0011278 NCBITaxon:780 "GC_ID:11 PMID:11491333 PMID:9103608 PMID:14662925 PMID:10939649" -MONDO:0017163 "ICD10:P55.1 Orphanet:275938 UMLS:CN202585 ICD10:P55.8 ICD10:P55.9 ICD10:P55.0" +MONDO:0017163 "ICD10CM:P55.9 Orphanet:275938 ICD10CM:P55.1 ICD10CM:P55.8 UMLS:CN202585 ICD10CM:P55.0" MONDO:0015865 HP:0003367 "An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." "UMLS:C4025621" GO:0007267 "Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions." @@ -306,24 +306,24 @@ NCBITaxon:135621 "GC_ID:11" MONDO:0014743 "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene." "DOID:0110854 UMLS:C4225237 Orphanet:468717 OMIM:616716" UBERON:0001444 HP:0002099 "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." "UMLS:C0004096 SNOMEDCT_US:991000119106 SNOMEDCT_US:195967001 MSH:D001249 UMLS:C3714497" -MONDO:0018361 "Orphanet:398127 ICD10:P83.8" +MONDO:0018361 "ICD10CM:P83.8 Orphanet:398127" UBERON:0003841 http://identifiers.org/hgnc/17797 http://identifiers.org/hgnc/327 CL:0009006 "An enteroendocrine cell that is located in the small intestine." UBERON:0034908 UBERON:0001448 -MONDO:0001200 "High blood pressure caused by an underlying medical condition." "NCIT:C3657 UMLS:C0155616 EFO:1002034 ICD10:I15.9 ICD9:405.9 ICD9:405.99 SCTID:31992008 ICD9:405 DOID:11130 ICD10:I15" +MONDO:0001200 "High blood pressure caused by an underlying medical condition." "NCIT:C3657 UMLS:C0155616 EFO:1002034 ICD9:405.9 ICD10CM:I15 ICD9:405.99 SCTID:31992008 ICD9:405 DOID:11130" MONDO:0007559 "UMLS:C1868677 OMIM:132100 Orphanet:166409" UBERON:0035006 NCBITaxon:5478 "PMID:14654427 GC_ID:1" NCBITaxon:783 "GC_ID:11" -MONDO:0002682 "A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure." "GARD:0006025 SCTID:126958000 NCIT:C2937 ICD10:C71.5 DOID:3541 MESH:D002551 ICD9:191.5 EFO:0007201" +MONDO:0002682 "A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure." "GARD:0006025 SCTID:126958000 NCIT:C2937 DOID:3541 MESH:D002551 ICD9:191.5 EFO:0007201" HP:0012780 "A tumor (abnormal growth of tissue) of the ear." "SNOMEDCT_US:363228008 UMLS:C0013449 MSH:D004428 NCIT:C3262" GO:0050885 "Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors." -MONDO:0019368 "Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw." "Orphanet:83451 NCIT:C8381 MESH:C537063 ICDO:9275/0 ICD10:D16.5 UMLS:C0555197 ICD10:D16.4 GARD:0010173 SCTID:715634002" +MONDO:0019368 "Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw." "Orphanet:83451 NCIT:C8381 ICD10CM:D16.4 MESH:C537063 ICDO:9275/0 UMLS:C0555197 ICD10CM:D16.5 GARD:0010173 SCTID:715634002" MONDO:0004371 "A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells." "DOID:7824 UMLS:C1336051 NCIT:C5287" -MONDO:0007483 "Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs." "Orphanet:41 UMLS:C0406775 NCIT:C118435 MESH:C535729 ICD10:L81.8 GARD:0000334 DOID:0060257 EFO:0008878 SCTID:239085000 OMIM:127400" +MONDO:0007483 "Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs." "Orphanet:41 UMLS:C0406775 ICD10CM:L81.8 NCIT:C118435 MESH:C535729 GARD:0000334 DOID:0060257 EFO:0008878 SCTID:239085000 OMIM:127400" MONDO:0003516 "A teratoma that occurs in an adult." "DOID:5565 UMLS:C1368888 UMLS:C1368898 NCIT:C9013" NCBITaxon:171637 "PMID:24631854 GC_ID:1" MONDO:0022949 "GARD:0001720" @@ -335,23 +335,23 @@ HP:0005541 "Congenital onset of a marked decrease in the number of granulocytes. MONDO:0023046 "GARD:0002045" MONDO:0025445 "OMIMPS:314580" http://identifiers.org/hgnc/21043 -MONDO:0008075 "Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium." "OMIM:162091 DOID:3204 OMIMPS:162091 UMLS:C1335929 ICD10:Q85.0 ICD10:Q85.03 GARD:0004768 ICDO:9560/1 NCIT:C6557 OMIM:162260 OMIM:615670 Orphanet:93921 ICD9:237.73" +MONDO:0008075 "Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium." "OMIM:162091 DOID:3204 OMIMPS:162091 UMLS:C1335929 GARD:0004768 ICD10CM:Q85.0 ICDO:9560/1 NCIT:C6557 OMIM:162260 OMIM:615670 Orphanet:93921 ICD9:237.73" UBERON:0034907 MONDO:0004304 "A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells)." "NCIT:C7994 DOID:7610 UMLS:C0279701" -MONDO:0019158 "Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition." "ICD10:I42.3 SCTID:715626008 UMLS:CN205710 Orphanet:75565 UMLS:C2882252" +MONDO:0019158 "Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition." "SCTID:715626008 UMLS:CN205710 Orphanet:75565 UMLS:C2882252 ICD10CM:I42.3" UBERON:0035005 MONDO:0024245 "SCTID:403939009 NCIT:C43345 DOID:5570" NCBITaxon:169449 "GC_ID:1" SO:0000298 "A feature where there has been exchange of genetic material in the event of mitosis or meiosis" NCBITaxon:782 "PMID:15879256 GC_ID:11" MONDO:0009957 "MESH:C564854 GARD:0010566 UMLS:C1849450 OMIM:266400" -MONDO:0006019 "An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease." "ICD9:102.7 DOID:10371 ICD10:A66.9 NCIT:C41353 ICD9:102.9 SCTID:70647001 ICD9:102 UMLS:C0043388 MESH:D015001 EFO:0007548 ICD10:A66 GARD:0007913" +MONDO:0006019 "An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease." "ICD9:102.7 DOID:10371 NCIT:C41353 ICD9:102.9 SCTID:70647001 ICD9:102 UMLS:C0043388 MESH:D015001 ICD10CM:A66 EFO:0007548 GARD:0007913" CL:0002044 "A basophil mast progenitor cell that is Beta-7 integrin-high, Kit-positive FcRgammaII/III-positive and Sca1-negative." -MONDO:0008824 "Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes." "SCTID:401138005 ICD9:754.89 DOID:0111375 OMIMPS:208150 ICD10:Q87.8 MESH:C536647 NCIT:C129071 OMIM:300073 GARD:0009634" +MONDO:0008824 "Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes." "SCTID:401138005 ICD9:754.89 ICD10CM:Q87.8 DOID:0111375 OMIMPS:208150 MESH:C536647 NCIT:C129071 OMIM:300073 GARD:0009634" NCBITaxon:135623 "GC_ID:11" MONDO:0033818 "A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism" "Orphanet:519410" UBERON:0003843 -MONDO:0011567 "A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16." "Orphanet:154 DOID:0110437 MESH:C565320 UMLS:C1854159 ICD10:I42.0 OMIM:605582" +MONDO:0011567 "A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16." "ICD10CM:I42.0 Orphanet:154 DOID:0110437 MESH:C565320 UMLS:C1854159 OMIM:605582" http://identifiers.org/hgnc/325 MONDO:0022948 "MESH:C538206 UMLS:C2931773" UBERON:0001446 @@ -362,13 +362,13 @@ HP:0012730 "Absence of the tongue owing to a developmental abnormality." "SNOMED MONDO:0100252 "OMIM:211900" http://identifiers.org/hgnc/9509 MONDO:0003578 "A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary." "UMLS:C1334582 NCIT:C8885 DOID:5677" -MONDO:0008977 "A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion." "Orphanet:55880 DOID:3371 SCTID:443520009 ICD9:170.9 HP:0006765 OMIM:215300 EFO:0000333 MedDRA:10008734 ICDO:9220/3 GARD:0006055 MESH:D002813 ICD10:C49.9 UMLS:C0008479 ONCOTREE:CHS NCIT:C2946" +MONDO:0008977 "A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion." "ICD10CM:C49.9 Orphanet:55880 DOID:3371 SCTID:443520009 ICD9:170.9 HP:0006765 OMIM:215300 EFO:0000333 MedDRA:10008734 ICDO:9220/3 GARD:0006055 MESH:D002813 UMLS:C0008479 ONCOTREE:CHS NCIT:C2946" MONDO:0013697 "UMLS:C3280525 OMIM:614333" MONDO:0005503 "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development." "EFO:0005548 DOID:0060037 ICD9:315.8 SCTID:129104009" -MONDO:0019764 "Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress." "Orphanet:93941 UMLS:CN206699 ICD10:Q32.1" -MONDO:0009501 "Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase." "OMIM:245340 SCTID:766715000 Orphanet:171690 ICD10:G72.8 MESH:C565449 UMLS:C1855577" -MONDO:0007411 "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene." "Orphanet:90348 ICD10:Q82.8 OMIM:123700 DOID:0070130 UMLS:C3276539" -MONDO:0012643 "Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21." "UMLS:C1970009 Orphanet:171622 SCTID:726606003 ICD10:G11.4 MESH:C566983 UMLS:C4511958 OMIM:611252 GARD:0012749 DOID:0110783" +MONDO:0019764 "Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress." "ICD10CM:Q32.1 Orphanet:93941 UMLS:CN206699" +MONDO:0009501 "Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase." "ICD10CM:G72.8 OMIM:245340 SCTID:766715000 Orphanet:171690 MESH:C565449 UMLS:C1855577" +MONDO:0007411 "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene." "Orphanet:90348 OMIM:123700 DOID:0070130 UMLS:C3276539" +MONDO:0012643 "Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21." "UMLS:C1970009 Orphanet:171622 SCTID:726606003 ICD10CM:G11.4 MESH:C566983 UMLS:C4511958 OMIM:611252 GARD:0012749 DOID:0110783" CL:0000222 "A cell of the middle germ layer of the embryo." "FMA:72554" UBERON:0001441 NCBITaxon:555864 "GC_ID:1" @@ -382,10 +382,10 @@ MONDO:0024284 "A demodicidosis that involves the sebaceous gland." MONDO:0010937 "UMLS:C1833276 OMIM:600801" HP:0005599 "UMLS:C3278401" http://identifiers.org/hgnc/11431 -MONDO:0018107 "ICD10:B00.1 Orphanet:35061 UMLS:CN204468" +MONDO:0018107 "ICD10CM:B00.1 Orphanet:35061 UMLS:CN204468" MONDO:0001450 MONDO:0013698 "OMIM:614335 DOID:0111598 UMLS:C3280526 Orphanet:1146" -MONDO:0014630 "OMIM:616415 UMLS:C4225157 Orphanet:454840 ICD10:D12.6" +MONDO:0014630 "OMIM:616415 UMLS:C4225157 Orphanet:454840 ICD10CM:D12.6" MONDO:0013224 "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene." "Orphanet:69077 OMIM:613325 MESH:C567643 UMLS:C2750074 Orphanet:231108" MONDO:0019302 HP:0001609 "Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky." "UMLS:C1854348 SNOMEDCT_US:50219008 MSH:D006685 UMLS:C0019825" @@ -401,18 +401,18 @@ MONDO:0012234 MONDO:0014631 "UMLS:C4225333 Orphanet:34527 OMIMPS:616418" MONDO:0014897 HP:0100545 "Narrowing or constriction of the inner surface (lumen) of an artery." "UMLS:C0038449 SNOMEDCT_US:68109007" -MONDO:0018104 "OMIM:259600 OMIM:277950 Orphanet:3460 ICD10:M89.5" +MONDO:0018104 "ICD10CM:M89.5 Orphanet:3460" GO:0106118 "Any process that modulates the frequency, rate or extent of a sterol biosynthetic process." -MONDO:0017893 "An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome." "UMLS:CN203946 SCTID:764940002 ICD10:C92.0 OMIM:601626 Orphanet:319465" +MONDO:0017893 "An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome." "ICD10CM:C92.0 UMLS:CN203946 SCTID:764940002 OMIM:601626 Orphanet:319465" GO:0035150 "Ensuring that a tube is of the correct length and diameter. Tube size must be maintained not only during tube formation, but also throughout development and in some physiological processes." GO:0016903 "Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor." -MONDO:0015766 "Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated." "ICD10:A00.9 ICD10:A00 MESH:D002771 GARD:0006043 ICD9:001.9 Orphanet:173 MedDRA:10008631 SCTID:63650001 ICD10:A00.0 ICD9:001.0 ICD10:A00.1 UMLS:C0008354 ICD9:001 DOID:1498" +MONDO:0015766 "Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated." "ICD10CM:A00 MESH:D002771 GARD:0006043 ICD9:001.9 ICD10CM:A00.9 Orphanet:173 MedDRA:10008631 SCTID:63650001 ICD10CM:A00.1 ICD10CM:A00.0 ICD9:001.0 UMLS:C0008354 ICD9:001 DOID:1498" MONDO:0019305 "Orphanet:79391" MONDO:0024653 "A benign or malignant neoplasm that affects the bones and structures of the skull." "NCIT:C3375 UMLS:C0037305 SCTID:126538005 ICD9:239.2" http://identifiers.org/hgnc/19963 -MONDO:0019871 "Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies." "ICD10:Q92.3 Orphanet:96070 SCTID:764518004" +MONDO:0019871 "Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies." "Orphanet:96070 SCTID:764518004" GO:0046474 "The chemical reactions and pathways resulting in the formation of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue." -MONDO:0010108 "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." "SCTID:713577007 EFO:1000566 Orphanet:99865 ICD10:C62.1 OMIM:273300 GARD:0013047 Orphanet:842 Orphanet:363494 ICD9:239.5 MESH:C563236 OMIM:300228 Orphanet:363504 UMLS:C0334517 Orphanet:363483 NCIT:C8591 UMLS:C1336708 UMLS:C0014145 Orphanet:876 DOID:5557" +MONDO:0010108 "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." "SCTID:713577007 EFO:1000566 Orphanet:99865 OMIM:273300 ICD10CM:C62.1 GARD:0013047 Orphanet:842 Orphanet:363494 MESH:C563236 ICD9:239.5 OMIM:300228 Orphanet:363504 UMLS:C0334517 Orphanet:363483 NCIT:C8591 UMLS:C1336708 UMLS:C0014145 Orphanet:876 DOID:5557" UBERON:0001443 MONDO:0012546 "Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene." "DOID:0080382 OMIM:610725 UMLS:C1853124" CHEBI:51422 "Any organic substituent group, regardless of functional type, having two free valences at carbon atom(s)." @@ -422,8 +422,9 @@ MONDO:0004949 "A neoplasm of follicle centre B cells which has at least a partia http://identifiers.org/hgnc/9508 MONDO:0011037 "DOID:0111682 GARD:0004658 MESH:C537755 OMIM:601331" MONDO:0000875 "A acute monocytic leukemia that occurs in an adult." "NCIT:C8263 DOID:0080149 UMLS:C0280634" -MONDO:0009033 "Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." "DOID:0111621 ICD10:Q87.8 MESH:C536959 NCIT:C148371 SCTID:719947004 Orphanet:1777 GARD:0005688 OMIM:218340 UMLS:C1857512" +MONDO:0009033 "Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities." "DOID:0111621 MESH:C536959 NCIT:C148371 SCTID:719947004 Orphanet:1777 GARD:0005688 ICD10CM:Q87.8 OMIM:218340 UMLS:C1857512" CHEBI:50267 "Synthetic or natural substance which is given to prevent a disease or disorder or are used in the process of treating a disease or injury due to a poisonous agent." +MONDO:0018186 "OBSOLETE. Aberrant chromosomes with no ends, i.e., circular." "Orphanet:363203 NCIT:C3360 MESH:D012303 ICD10CM:Q93.2" http://identifiers.org/hgnc/30528 MONDO:0019304 "Orphanet:79390 UMLS:C0920193" GO:0043005 "A prolongation or process extending from a nerve cell, e.g. an axon or dendrite." @@ -432,25 +433,25 @@ http://identifiers.org/hgnc/321 MONDO:0004396 "A meningioma that arises from the meninges of the cervical region of the spinal cord." "NCIT:C5296 DOID:7915 UMLS:C1332916" http://identifiers.org/hgnc/21050 CHEBI:30563 "A silicon oxide made up of linear triatomic molecules in which a silicon atom is covalently bonded to two oxygens." -MONDO:0007407 "Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia." "UMLS:C0340992 UMLS:C0272258 OMIM:123550 ICD10:D89.1 ICD9:273.2 SCTID:190815001 MESH:C565141 UMLS:C1852456 MedDRA:10027756 GARD:0006386 Orphanet:91138 UMLS:C0343208" +MONDO:0007407 "Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia." "UMLS:C0340992 UMLS:C0272258 OMIM:123550 ICD9:273.2 SCTID:190815001 ICD10CM:D89.1 MESH:C565141 UMLS:C1852456 MedDRA:10027756 GARD:0006386 Orphanet:91138 UMLS:C0343208" MONDO:0012236 "OMIM:609271 MESH:C563752 UMLS:C1836473" MONDO:0016808 "Orphanet:254871 MESH:C580039 UMLS:CN069134 UMLS:C3711385" UBERON:0001442 GO:0061535 "The controlled release of glutamate by a cell, in which the glutamate acts as a neurotransmitter." MONDO:0003622 "A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome." "UMLS:C2033037 DOID:5741 NCIT:C27454" MONDO:0014357 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene." "UMLS:C4014414 OMIM:615828 DOID:0070054" -MONDO:0001298 "Dysfunction of the mitral valve characterized by incomplete valve closure." "DOID:11502 SCTID:29928006 ICD9:746.6 MESH:D008944 UMLS:C0158619 NCIT:C50888 ICD9:396.3 ICD10:Q23.3" +MONDO:0001298 "Dysfunction of the mitral valve characterized by incomplete valve closure." "DOID:11502 SCTID:29928006 ICD9:746.6 MESH:D008944 UMLS:C0158619 NCIT:C50888 ICD9:396.3" MONDO:0014633 "OMIM:616421 Orphanet:1942 UMLS:C4085238" MONDO:0044766 "GTR:AN0100577 UMLS:CN035813 GTR:AN0100578" MONDO:0024250 "ICD9:696.5 SCTID:86487001" GO:0008374 "Catalysis of the transfer of an acyl group to an oxygen atom on the acceptor molecule." MONDO:0044937 "A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." "NCIT:C9382" -MONDO:0020381 "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped." "SCTID:725590001 OMIMPS:169150 DOID:0060863 UMLS:C4511237 OMIM:169150 OMIM:610125 OMIM:608970 UMLS:CN207254 ICD10:H35.5" -MONDO:0018368 "NCIT:C7695 ICD10:C48.1 DOID:6228 Orphanet:398980 ICD10:C48.2 UMLS:CN205035 ICD10:C48.0 ICD10:C48.8 UMLS:C1368918" +MONDO:0020381 "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped." "ICD10CM:H35.5 SCTID:725590001 OMIMPS:169150 DOID:0060863 UMLS:C4511237 OMIM:169150 OMIM:610125 OMIM:608970 UMLS:CN207254" +MONDO:0018368 "ICD10CM:C48.1 NCIT:C7695 ICD10CM:C48.2 ICD10CM:C48.8 DOID:6228 Orphanet:398980 UMLS:CN205035 ICD10CM:C48.0 UMLS:C1368918" MONDO:0020551 http://identifiers.org/hgnc/13831 -MONDO:0012196 "Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene." "UMLS:C1836743 DOID:0060690 OMIM:609129 MESH:C563790 ICD10:H90.3" -MONDO:0004725 "A in situ carcinoma that involves the rectum." "DOID:9174 UMLS:C0154062 NCIT:C4853 SCTID:308879003 ICD9:230.4 ICD10:D01.2" +MONDO:0012196 "Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene." "UMLS:C1836743 DOID:0060690 OMIM:609129 MESH:C563790" +MONDO:0004725 "A in situ carcinoma that involves the rectum." "ICD10CM:D01.2 DOID:9174 UMLS:C0154062 NCIT:C4853 SCTID:308879003 ICD9:230.4" CHEBI:25340 "Any member of the class of pyridines that carries at least one methyl substituent." MONDO:0006563 "Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies." "DOID:6945 UMLS:C0334019 Wikipedia:Inverted_follicular_keratosis SCTID:394728005 NCIT:C9007 EFO:1000717 ICD9:264.8" MONDO:0021313 "A cancer that involves the eyelid." "NCIT:C6786 ICD9:173.1 SCTID:231829006" @@ -463,15 +464,15 @@ MONDO:0014634 "OMIM:616425 UMLS:C4225331 DOID:0111775 Orphanet:251510 Orphanet: MONDO:0016805 "UMLS:CN227005 Orphanet:254846" MONDO:0003468 "A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component." "NCIT:C4279 ICDO:9043/3 UMLS:C0334507 DOID:5492" MONDO:0037745 "A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present." "ICDO:8811/0 NCIT:C66760" -MONDO:0005848 "I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma." "UMLS:C0152915 ICD10:A19 ICD9:018.80 EFO:0007368 ICD9:018 ICD9:018.90 DOID:9861 SCTID:47604008 MESH:D014391 UMLS:C0041321 ICD10:A19.9 ICD9:018.9 NCIT:C35086" +MONDO:0005848 "I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma." "UMLS:C0152915 ICD9:018.80 EFO:0007368 ICD9:018 ICD9:018.90 DOID:9861 SCTID:47604008 ICD10CM:A19 MESH:D014391 UMLS:C0041321 ICD9:018.9 NCIT:C35086" GO:0010893 "Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus." -MONDO:0011772 "B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase." "MESH:C535753 Orphanet:79332 SCTID:725587007 GARD:0009841 DOID:0070256 OMIM:607091 ICD10:E77.8 UMLS:C2931009" +MONDO:0011772 "B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase." "ICD10CM:E77.8 OMIM:607091 UMLS:C2931009 GARD:0009841 SCTID:725587007 MESH:C535753 Orphanet:79332 DOID:0070256" MONDO:0011039 "MESH:C563349 UMLS:C1832465 OMIM:601341" ENVO:01000231 "Lava is a mixture of molten or semi-molten rock, volatiles, and solids which has extruded beyond a planetary crust." MONDO:0001487 "A cancer that involves the intrahepatic bile duct." "DOID:12298 UMLS:C0546835 ICD9:155.1 SCTID:187777008" MONDO:0019564 MONDO:0003629 "A serous adenocarcinoma that involves the uterine corpus." "NCIT:C27838 DOID:5750 ONCOTREE:USC UMLS:C1336921" -MONDO:0012525 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene." "DOID:0110080 ICD10:H35.5 OMIM:610612 GARD:0010489 MESH:C565697" +MONDO:0012525 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene." "DOID:0110080 OMIM:610612 GARD:0010489 MESH:C565697" MONDO:0019741 "An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome." "Orphanet:93587 UMLS:CN206655" MONDO:0006987 "An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects." "OMIM:185500 GARD:0005052 MedDRA:10042431 DOID:5805 NCIT:C85172 EFO:1001199 MESH:D001020 SCTID:204368006 UMLS:C0340375" MONDO:0016677 "Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment." "Orphanet:251529 MESH:D000014" @@ -485,37 +486,37 @@ MONDO:0025066 "An acute generalized dermatitis of pigs which occurs from 5 to 35 MONDO:0044764 "NCIT:C8405 UMLS:C0346290 SCTID:254943007" MONDO:0043300 "SCTID:46795000 UMLS:C0267026 MESH:C535669 GARD:0009619" MONDO:0023050 "UMLS:C2931127 MESH:C536187 GARD:0002063" -MONDO:0017168 "OMIM:181030 Orphanet:276148 ICD10:D11.0 ICD10:D11.7 UMLS:CN202592" +MONDO:0017168 "OMIM:181030 Orphanet:276148 ICD10CM:D11.0 ICD10CM:D11.7 UMLS:CN202592" MONDO:0043339 "A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus." "SCTID:5724005 MESH:D007842 GARD:0010441 EFO:1001776" GO:0042181 "The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups." MONDO:0005424 "Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph." "NCIT:C34569 UMLS:C0013882 EFO:0004711 MESH:D004604 DOID:4976" MONDO:0019301 "UMLS:CN205935 Orphanet:79387" http://identifiers.org/hgnc/12631 NCBITaxon:577468 "GC_ID:11" -MONDO:0013144 "A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)." "MESH:D020152 ICD10:D68.59 UMLS:C0272375 Orphanet:82 DOID:3755 GARD:0006148 NCIT:C98815 ICD9:286.9 SCTID:36351005 ICD10:D68.5 OMIM:613118" -MONDO:0003432 "Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected." "ICD9:378.7 ICD9:378.40 ICD10:H50.8 ICD10:H50.89 UMLS:C0038379 NCIT:C35040 DOID:540 SCTID:22066006" +MONDO:0013144 "A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)." "OMIM:613118 SCTID:36351005 MESH:D020152 ICD10CM:D68.5 GARD:0006148 UMLS:C0272375 Orphanet:82 NCIT:C98815 DOID:3755 ICD9:286.9" +MONDO:0003432 "Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected." "ICD9:378.7 ICD9:378.40 UMLS:C0038379 NCIT:C35040 DOID:540 SCTID:22066006" MONDO:0015868 "OBSOLETE. Any of the forms of breast neoplasm that have a rare incidence." "Orphanet:180250" MONDO:0044791 "A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor." "NCIT:C3828 SCTID:274902006 Orphanet:529852" MONDO:0021017 "A disease caused by dysfunction of synapses." -MONDO:0010184 "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner." "Orphanet:26 SCTID:74653006 GARD:0012128 UMLS:CN205878 NCIT:C142174 OMIM:277400 Orphanet:79282 ICD10:E72.1 DOID:0050715" +MONDO:0010184 "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner." "Orphanet:26 SCTID:74653006 GARD:0012128 UMLS:CN205878 NCIT:C142174 ICD10CM:E72.1 OMIM:277400 Orphanet:79282 DOID:0050715" MONDO:0016803 "UMLS:CN227004 Orphanet:254837" -MONDO:0015668 "The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions." "Orphanet:167759 ICD10:K00.5" +MONDO:0015668 "The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions." "ICD10CM:K00.5 Orphanet:167759" GO:0016410 "Catalysis of the transfer of an acyl group to a nitrogen atom on the acceptor molecule." MONDO:0018367 -MONDO:0007916 "Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." "UMLS:CN206410 OMIM:152800 Orphanet:90362 ICD10:I89.0 SCTID:6124009 GARD:0007873 ICD9:457.1 UMLS:C0267372" +MONDO:0007916 "Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children." "UMLS:CN206410 OMIM:152800 Orphanet:90362 SCTID:6124009 GARD:0007873 ICD10CM:I89.0 ICD9:457.1 UMLS:C0267372" CL:0002601 "A smooth muscle cell of the uterus." CHR:9606-chr16p11 http://identifiers.org/hgnc/13830 ENVO:00001999 "A significant accumulation of water which is part of a marine biome." -MONDO:0004223 "A benign polypoid growth in the middle ear." "ICD10:H74.4 NCIT:C6933 UMLS:C0271466 DOID:7439 SCTID:73103007" +MONDO:0004223 "A benign polypoid growth in the middle ear." "NCIT:C6933 ICD10CM:H74.4 UMLS:C0271466 DOID:7439 SCTID:73103007" GO:0009168 "The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar." MONDO:0019300 "UMLS:CN205934 Orphanet:79386" http://identifiers.org/hgnc/12632 MONDO:0019566 http://identifiers.org/hgnc/583 HP:0004394 "UMLS:C0236048 SNOMEDCT_US:78809005 MSH:C562464 SNOMEDCT_US:87252009" -MONDO:0019853 "OBSOLETE. Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." "ICD10:E03.1 Orphanet:95711" -MONDO:0020426 "Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery." "Orphanet:99090 ICD10:Q24.5" +MONDO:0019853 "OBSOLETE. Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." "ICD10CM:E03.1 Orphanet:95711" +MONDO:0020426 "Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery." "Orphanet:99090 ICD10CM:Q24.5" MONDO:0003854 MONDO:0029147 "OMIM:618152" http://identifiers.org/hgnc/2213 @@ -523,17 +524,17 @@ MONDO:0020666 "A sarcoidosis characterized by the triad of erythema nodosum, bil MONDO:0040676 "A malignant neoplasm arising from the great vessels." "NCIT:C4575 UMLS:C3665405" UBERON:0015813 CHR:9606-chr16p12 -MONDO:0007187 "A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities." "DOID:2512 OMIM:109400 UMLS:C0004779 ICD10:Q87.8 NCIT:C2892 MedDRA:10062804 Orphanet:377 SCTID:69408002 GARD:0007166 MESH:D001478" +MONDO:0007187 "A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities." "DOID:2512 OMIM:109400 UMLS:C0004779 ICD10CM:Q87.8 NCIT:C2892 MedDRA:10062804 Orphanet:377 SCTID:69408002 GARD:0007166 MESH:D001478" NCBITaxon:69034 "GC_ID:1" MONDO:0010096 "SCTID:102449007 UMLS:C0686347 HP:0040141 OMIM:272620" -MONDO:0007621 "Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." "DOID:0111358 MESH:C537062 ICD9:759.89 Orphanet:2044 ICD10:Q87.8 GARD:0006455 UMLS:C0729582 SCTID:312214005 OMIM:136140" +MONDO:0007621 "Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay." "DOID:0111358 MESH:C537062 ICD9:759.89 Orphanet:2044 GARD:0006455 UMLS:C0729582 ICD10CM:Q87.8 SCTID:312214005 OMIM:136140" GO:0099569 "The portion of the cytoskeleton contained within the presynapse." MONDO:0012491 "OMIM:610430 Orphanet:33226" NCBITaxon:119060 "GC_ID:11 PMID:16403855" UBERON:0015814 GO:0006885 "Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell." -MONDO:0007630 "North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." "GARD:0009179 SCTID:312925009 ICD10:H35.5 MESH:C537835 Orphanet:75327 UMLS:C0730294 OMIM:136550" -MONDO:0009106 "A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida." "UMLS:C0011999 GARD:0001851 Orphanet:1671 SCTID:49351009 NCIT:C98913 ICD10:Q06.2 OMIM:222500 ICD9:742.51 MedDRA:10012750" +MONDO:0007630 "North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." "GARD:0009179 SCTID:312925009 MESH:C537835 Orphanet:75327 UMLS:C0730294 ICD10CM:H35.5 OMIM:136550" +MONDO:0009106 "A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida." "UMLS:C0011999 ICD10CM:Q06.2 GARD:0001851 Orphanet:1671 SCTID:49351009 NCIT:C98913 OMIM:222500 ICD9:742.51 MedDRA:10012750" MONDO:0020192 "OBSOLETE. Any of the forms of lacrimal apparatus disease that have a rare incidence." "Orphanet:98602" http://identifiers.org/hgnc/582 GO:0006643 "The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane." @@ -544,7 +545,7 @@ MONDO:0029148 "OMIM:618153" MONDO:0011293 GO:0045641 "Any process that stops, prevents, or reduces the frequency, rate or extent of basophil differentiation." MONDO:0003855 -MONDO:0019524 "Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." "OMIM:613090 ICD10:E26.8 Orphanet:89938 GARD:0010508 UMLS:C3838860 SCTID:700112007 UMLS:CN206343 OMIM:602522" +MONDO:0019524 "Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II." "OMIM:613090 Orphanet:89938 GARD:0010508 UMLS:C3838860 SCTID:700112007 ICD10CM:E26.8 UMLS:CN206343 OMIM:602522" CHR:9606-chr16p13 MONDO:0020979 "A hamartoma characterized by localized pilosebaceous apparatus malformation." "NCIT:C5565" MONDO:0005856 "Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections." "MESH:D018701 UMLS:C0242916 EFO:0007376" @@ -555,12 +556,12 @@ MONDO:0012492 "GARD:0010270 OMIM:610438" http://identifiers.org/hgnc/19706 http://identifiers.org/hgnc/1014 MONDO:0021452 "A benign neoplasm that involves the cornea." "NCIT:C3623 ICD9:224.4 UMLS:C0154026 SCTID:92070006" -MONDO:0015903 "An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease." "Orphanet:181428 ICD9:272.4 ICD10:E78.4 UMLS:C0342883 NCIT:C128806 SCTID:238080004" -MONDO:0008991 "Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981." "ICD10:Q87.8 Orphanet:3429 OMIM:215850 GARD:0005482 MESH:C536541 SCTID:764697003 UMLS:C1859082" +MONDO:0015903 "An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease." "ICD10CM:E78.4 Orphanet:181428 ICD9:272.4 UMLS:C0342883 NCIT:C128806 SCTID:238080004" +MONDO:0008991 "Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981." "Orphanet:3429 OMIM:215850 GARD:0005482 MESH:C536541 ICD10CM:Q87.8 SCTID:764697003 UMLS:C1859082" MONDO:0011030 "OMIM:601315" -MONDO:0001457 "SCTID:60676002 UMLS:C0154859 DOID:12167 ICD9:362.66 ICD10:H35.46" +MONDO:0001457 "SCTID:60676002 UMLS:C0154859 DOID:12167 ICD9:362.66" ENVO:01000814 "An environmental material which is in a solid state." -MONDO:0013648 "Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated." "ICD10:L81.4 Orphanet:79146 UMLS:CN205811 UMLS:C1840392 UMLS:C1835039 SCTID:715630006 OMIM:145250 OMIM:614233" +MONDO:0013648 "Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated." "Orphanet:79146 UMLS:CN205811 UMLS:C1840392 UMLS:C1835039 ICD10CM:L81.4 SCTID:715630006 OMIM:145250 OMIM:614233" MONDO:0002073 "A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor." "UMLS:C0349621 ICD9:239.7 UMLS:C1334612 NCIT:C6767 SCTID:277508009 GARD:0012017 DOID:1660" MONDO:0012493 "OMIM:610439 GARD:0010271" NCBITaxon:1723728 "GC_ID:1" @@ -575,7 +576,7 @@ CL:0002006 "A megakaryocyte erythroid progenitor cell that is Kit-positive and i MONDO:0100391 "Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.)" "NCIT:C173543" MONDO:0003392 "A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas." "NCIT:C40130 DOID:5324 UMLS:C1517114" http://identifiers.org/hgnc/2214 -MONDO:0001456 "UMLS:C0154854 ICD9:362.61 SCTID:69134001 DOID:12166 ICD10:H35.43" +MONDO:0001456 "UMLS:C0154854 ICD9:362.61 SCTID:69134001 DOID:12166" http://identifiers.org/hgnc/4877 MONDO:0003640 "A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages." "UMLS:C0346054 DOID:5769 ICD9:215.9 SCTID:254756007 NCIT:C4478" UBERON:0014615 @@ -589,17 +590,17 @@ UBERON:0006339 http://identifiers.org/hgnc/3413 ENVO:00002149 "Water which has physicochemical properties that have been determined by the processes occuring in a sea or ocean." MONDO:0000258 -MONDO:0007992 "Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant." "UMLS:C1834935 Orphanet:2536 OMIM:156700 GARD:0003637 MESH:C537552 ICD10:Q15.8" +MONDO:0007992 "Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant." "UMLS:C1834935 Orphanet:2536 OMIM:156700 ICD10CM:Q15.8 GARD:0003637 MESH:C537552" http://identifiers.org/hgnc/32925 NCBITaxon:43786 "GC_ID:1" GO:0016874 "Catalysis of the joining of two molecules, or two groups within a single molecule, using the energy from the hydrolysis of ATP, a similar triphosphate, or a pH gradient." UBERON:0014614 -MONDO:0001180 "Keratopathy that is characterized by the presence of epithelial bullae." "DOID:11031 ICD9:371.23 ICD10:H18.1 SCTID:57207003 NCIT:C26970 UMLS:C0155111" +MONDO:0001180 "Keratopathy that is characterized by the presence of epithelial bullae." "DOID:11031 ICD9:371.23 ICD10CM:H18.1 SCTID:57207003 NCIT:C26970 UMLS:C0155111" http://identifiers.org/hgnc/2217 http://identifiers.org/hgnc/4878 MONDO:0010934 SO:0000656 "A region that can be transcribed into a small temporal RNA (stRNA). Found in roundworm development." -MONDO:0001455 "UMLS:C0154856 ICD10:H35.41 ICD9:362.63 SCTID:3577000 DOID:12165" +MONDO:0001455 "UMLS:C0154856 ICD9:362.63 SCTID:3577000 DOID:12165" MONDO:0043726 "The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult." "SCTID:57653000 MESH:D009102" CL:0000186 "An animal cell that has characteristics of both a fibroblast cell and a smooth muscle cell." MONDO:0040673 "A malignant germ cell tumor that affects the peritoneum." "UMLS:C4526657 NCIT:C136410" @@ -607,44 +608,44 @@ NCBITaxon:12455 "PMID:25449305 GC_ID:1" http://identifiers.org/hgnc/4612 GO:0014058 "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of acetylcholine." MONDO:0005019 "A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement." "EFO:0000404 MESH:D045743 NCIT:C116791 DOID:1580" -MONDO:0010199 "White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980." "ICD10:Q87.8 Orphanet:2475 UMLS:C1848463 GARD:0010081 SCTID:763619009 MESH:C536700 OMIM:277740" +MONDO:0010199 "White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980." "Orphanet:2475 ICD10CM:Q87.8 UMLS:C1848463 GARD:0010081 SCTID:763619009 MESH:C536700 OMIM:277740" CL:1000549 "KUPO:0001063" -MONDO:0015735 "Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates." "Orphanet:171430 OMIM:256030 OMIM:616165 OMIM:615731 ICD10:G71.2 GARD:0012821 OMIM:615348 OMIM:161800" +MONDO:0015735 "Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates." "ICD10CM:G71.2 Orphanet:171430 OMIM:256030 OMIM:616165 OMIM:615731 GARD:0012821 OMIM:615348 OMIM:161800" http://identifiers.org/hgnc/2218 http://identifiers.org/hgnc/2216 -MONDO:0001454 "UMLS:C0154855 DOID:12164 ICD9:362.62 SCTID:37075008 ICD10:H35.42" +MONDO:0001454 "UMLS:C0154855 DOID:12164 ICD9:362.62 SCTID:37075008" http://identifiers.org/hgnc/4879 -MONDO:0016806 "Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." "ICD10:G24.8 Orphanet:254851 UMLS:C4274074 SCTID:717054001" +MONDO:0016806 "Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." "ICD10CM:G24.8 Orphanet:254851 UMLS:C4274074 SCTID:717054001" MONDO:0013694 "UMLS:C3280523 OMIM:614329" MONDO:0012790 "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene." "MESH:C567429 DOID:0060201 UMLS:C3502417 Orphanet:803 Orphanet:275872 OMIM:612069 GARD:0010497" MONDO:0015209 "A gastroduodenal malformation that is not part of a larger syndrome." "Orphanet:108963" MONDO:0003747 "A glomus tumor characterized by huge vascular channel formations." "UMLS:C1336699 NCIT:C5345 DOID:6048" -MONDO:0016526 "Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations." "Orphanet:236 UMLS:C0265428 ICD10:Q92.2" +MONDO:0016526 "Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations." "Orphanet:236 UMLS:C0265428 GARD:0005364 Orphanet:262767 ICD10:Q92.2" MONDO:0000520 "An ependymal tumor affecting the parietal lobe of the brain." "DOID:0050903 UMLS:C4330935 NCIT:C131575" MONDO:0014892 "UMLS:C4310740 OMIM:617061 Orphanet:476126 DOID:0070074" -MONDO:0017340 "Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures." "Orphanet:289596 UMLS:C1367536 UMLS:CN202999 NCIT:C27479 ICD10:D10.6 SCTID:716590006 HP:0030429" +MONDO:0017340 "Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures." "Orphanet:289596 ICD10CM:D10.6 UMLS:C1367536 UMLS:CN202999 NCIT:C27479 SCTID:716590006 HP:0030429" GO:0035229 "Any process that activates or increases the activity of glutamate-cysteine ligase, typically by lowering its sensitivity to inhibition by glutathione and by increasing its affinity for glutamate." -MONDO:0010156 "Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin." "GARD:0005372 OMIM:275900 MESH:C536858 DOID:0050886 SCTID:230264003 ICD9:335.29 Orphanet:101000 ICD10:G11.4 UMLS:C0393559" +MONDO:0010156 "Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin." "GARD:0005372 OMIM:275900 MESH:C536858 DOID:0050886 SCTID:230264003 Orphanet:101000 ICD9:335.29 ICD10CM:G11.4 UMLS:C0393559" http://identifiers.org/hgnc/3415 MONDO:0012230 "OMIM:609259 UMLS:C1836503 MESH:C563758" HP:0001305 "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." "SNOMEDCT_US:14447001 MSH:D003616 UMLS:C0010964" GO:0014049 "Any process that activates or increases the frequency, rate or extent of the controlled release of glutamate." -MONDO:0008803 "Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures." "Orphanet:83 SCTID:62964007 DOID:0050462 ICD10:Q87.0 OMIM:201750 GARD:0005826" +MONDO:0008803 "Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures." "Orphanet:83 ICD10CM:Q87.0 SCTID:62964007 DOID:0050462 OMIM:201750 OMIM:207410 GARD:0005826" MF:0000017 "Consciousness is an inseparable part of all mental processes. It is that part of the mental process that:\na) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and\nb) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process." MONDO:0010186 "Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia." "OMIM:277440 Orphanet:93160 SCTID:237894002 UMLS:C0342646 NCIT:C131075" GO:0016504 "Binds to and increases the activity of a peptidase, any enzyme that catalyzes the hydrolysis peptide bonds." MONDO:0001453 "UMLS:C0154857 SCTID:54184008 ICD9:362.64 DOID:12163" -MONDO:0011529 "Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." "Orphanet:98768 OMIM:605259 UMLS:C1854488 SCTID:719209002 MESH:C537195 DOID:0050963 GARD:0009611 ICD10:G11.2 UMLS:C4304884" +MONDO:0011529 "Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." "Orphanet:98768 OMIM:605259 ICD10CM:G11.2 UMLS:C1854488 SCTID:719209002 MESH:C537195 DOID:0050963 GARD:0009611 UMLS:C4304884" MONDO:0043777 "Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose." "MESH:D012224 UMLS:C0035466 SCTID:19877001 NCIT:C34989" MONDO:0004145 "A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." "MESH:D008579 DOID:7212 NCIT:C4329 ICDO:9531/0 UMLS:C0334605 EFO:1000372" ENVO:01001008 "A meteor is any matter- or energy-based entity which is located in the atmosphere of an astronomical body." HP:0000546 "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells." "SNOMEDCT_US:95695004 MSH:D012162 UMLS:C0035304" -MONDO:0008700 "Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." "GARD:0000376 SCTID:177504007 MESH:C536014 OMIM:200500 DOID:0050603 ICD10:Q74.8 Orphanet:931" -MONDO:0012420 "An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness." "MESH:C565717 OMIM:610153 ICD10:H90.3 DOID:0110506 NCIT:C129024 UMLS:C1857811" -MONDO:0019067 "Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits." "OMIM:615861 Orphanet:69061 ICD10:N04.0" +MONDO:0008700 "Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance." "GARD:0000376 SCTID:177504007 MESH:C536014 OMIM:200500 DOID:0050603 ICD10CM:Q74.8 Orphanet:931" +MONDO:0012420 "An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness." "MESH:C565717 OMIM:610153 DOID:0110506 NCIT:C129024 UMLS:C1857811" +MONDO:0019067 "Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits." "ICD10CM:N04.0 OMIM:615861 Orphanet:69061" MONDO:0100146 "Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes." http://identifiers.org/hgnc/33020 -MONDO:0018108 "Orphanet:35062 UMLS:CN204469 ICD10:B25.8" +MONDO:0018108 "ICD10CM:B25.8 Orphanet:35062 UMLS:CN204469" MONDO:0009725 "An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness." "MESH:C538349 Orphanet:607 OMIM:256030 UMLS:C1850569 NCIT:C118784 DOID:0110928 UMLS:CN187052" MONDO:0002737 "A acute transudative otitis media which involves bloody effusion." "ICD9:381.03 UMLS:C0395865 DOID:3696 SCTID:77478005" MONDO:0004533 "A hemangioma arising from perineural tissues." "NCIT:C6526 DOID:8331 UMLS:C1335382" @@ -652,25 +653,25 @@ MONDO:0014893 "UMLS:C4310739 OMIM:617062" CHEBI:18186 "An alpha-amino acid that is phenylalanine bearing a hydroxy substituent at position 4 on the phenyl ring." CL:1000547 "KUPO:0001061" http://identifiers.org/hgnc/3416 -MONDO:0019260 "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." "OMIM:610127 UMLS:C0022797 ICD10:E75.4 SCTID:62009002 OMIM:615362 OMIM:204300 OMIM:256730 OMIM:162350 GARD:0010973 UMLS:CN205864 Orphanet:79262 OMIM:601780 OMIM:614706" -MONDO:0012746 "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13." "ICD10:I42.0 DOID:0110460 UMLS:C2678474 OMIM:611880" +MONDO:0019260 "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." "OMIM:610127 UMLS:C0022797 SCTID:62009002 ICD10CM:E75.4 OMIM:615362 OMIM:204300 OMIM:256730 OMIM:162350 GARD:0010973 UMLS:CN205864 Orphanet:79262 OMIM:601780 OMIM:614706" +MONDO:0012746 "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13." "DOID:0110460 ICD10CM:I42.0 UMLS:C2678474 OMIM:611880" MONDO:0014989 "Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene." "UMLS:C4310649 OMIM:617251" UBERON:0014875 -MONDO:0006592 "Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids." "ICD9:696.2 NCIT:C3312 ICD10:L41 DOID:9088 EFO:1000747 ICD10:L41.9 UMLS:C0030491 MESH:D010267 Wikipedia:Parapsoriasis GARD:0007328 SCTID:88233000" +MONDO:0006592 "Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids." "ICD9:696.2 NCIT:C3312 DOID:9088 EFO:1000747 ICD10CM:L41 UMLS:C0030491 MESH:D010267 Wikipedia:Parapsoriasis GARD:0007328 SCTID:88233000" http://identifiers.org/hgnc/19967 MONDO:0001698 "A dermatophytosis that involves the deep dermal layers." "UMLS:C1279621 SCTID:214600002 DOID:13368" GO:0080144 "Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell." -MONDO:0010092 "Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive." "UMLS:C0795940 MESH:C538152 ICD10:Q87.8 Orphanet:3255 SCTID:720954000 OMIM:272440 GARD:0000062" +MONDO:0010092 "Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive." "UMLS:C0795940 MESH:C538152 ICD10CM:Q87.8 Orphanet:3255 SCTID:720954000 OMIM:272440 GARD:0000062" GO:1904746 "Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in development." MONDO:0010935 -MONDO:0007481 "LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity." "GARD:0003224 Orphanet:35688 SCTID:17818006 UMLS:C0265309 DOID:0060847 Orphanet:240 ICD10:Q77.8 NCIT:C126560 OMIM:127300 ICD9:756.59" +MONDO:0007481 "LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity." "GARD:0003224 Orphanet:35688 SCTID:17818006 UMLS:C0265309 DOID:0060847 Orphanet:240 ICD10CM:Q77.8 NCIT:C126560 OMIM:127300 ICD9:756.59" MONDO:0015018 "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene." "UMLS:C4310621 OMIM:617320" -MONDO:0002351 "A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas." "UMLS:C0153483 SCTID:187841006 DOID:2595 NCIT:C3544 ICD10:C32.0 ICD9:161.0" +MONDO:0002351 "A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas." "UMLS:C0153483 DOID:2595 SCTID:187841006 NCIT:C3544 ICD9:161.0" ECTO:0000543 "An exposure to molecular messenger." GO:0030335 "Any process that activates or increases the frequency, rate or extent of cell migration." MONDO:0002907 "Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis." "ICD9:434.00 SCTID:71444005 MESH:D020767 ICD9:434.0 UMLS:C0752143 DOID:4193" GO:0034103 "Any process that modulates the frequency, rate, or extent of tissue remodeling." -MONDO:0001452 "ICD9:362.65 UMLS:C0154858 SCTID:193396007 ICD10:H35.45 DOID:12162 UMLS:C2053820" +MONDO:0001452 "ICD9:362.65 UMLS:C0154858 SCTID:193396007 DOID:12162 UMLS:C2053820" UBERON:0013411 MONDO:0013696 "OMIM:614332 UMLS:C3808494" MONDO:0012232 "MESH:C563756 OMIM:609261 UMLS:C1836484" @@ -678,54 +679,54 @@ CL:1000548 "KUPO:0001062" MONDO:0019519 "OBSOLETE. Rare skin disease." "Orphanet:89826 UMLS:CN206332" MONDO:0002233 "A dental caries that involves the enamel." "DOID:217 ICD9:521.01 SCTID:80353004 UMLS:C0266853" MONDO:0044956 "A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type." "NCIT:C6018" -MONDO:0012999 "Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations." "DOID:0050799 MESH:C537622 ICD9:277.6 UMLS:C0574080 Orphanet:382 ICD10:E72.8 GARD:0002578 SCTID:124239003 OMIM:612736" +MONDO:0012999 "Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations." "DOID:0050799 MESH:C537622 ICD9:277.6 UMLS:C0574080 Orphanet:382 ICD10CM:E72.8 GARD:0002578 SCTID:124239003 OMIM:612736" UBERON:0014876 ECTO:7000068 "A exposure event involving the interaction of an exposure receptor to particulate matter." MONDO:0005731 "A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids." "ICD9:125.4 GARD:0000004 UMLS:C0012517 EFO:0007237 MESH:D004154 DOID:14422 NCIT:C34540 SCTID:15629006" UBERON:0014610 http://identifiers.org/hgnc/2219 MONDO:0007565 "OMIM:132700 NCIT:C43352 Orphanet:211 MESH:C536611 Orphanet:79493 GARD:0009707" -MONDO:0013826 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." "UMLS:C2829265 OMIM:614617 Orphanet:90636 DOID:0110532 ICD10:H90.3" -MONDO:0007953 "A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex." "DOID:14683 UMLS:C0220692 Orphanet:1248 SCTID:715985008 OMIM:155050 GARD:0006992 MESH:C536036 ICD10:Q75.8" +MONDO:0013826 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." "UMLS:C2829265 OMIM:614617 Orphanet:90636 DOID:0110532" +MONDO:0007953 "A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex." "DOID:14683 UMLS:C0220692 Orphanet:1248 SCTID:715985008 OMIM:155050 GARD:0006992 ICD10CM:Q75.8 MESH:C536036" MONDO:0008414 "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35." "DOID:0070077 OMIM:181510" UBERON:0005137 UBERON:0007798 -MONDO:0010362 "A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness." "MESH:C564485 ICD10:E74.0 DOID:0111040 OMIM:300559 GARD:0003858 Orphanet:715" -MONDO:0004800 "Chronic form of dacryoadenitis." "UMLS:C0155224 SCTID:4760008 ICD9:375.02 ICD10:H04.02 DOID:949" +MONDO:0010362 "A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness." "MESH:C564485 ICD10CM:E74.0 DOID:0111040 OMIM:300559 GARD:0003858 Orphanet:715" +MONDO:0004800 "Chronic form of dacryoadenitis." "UMLS:C0155224 SCTID:4760008 ICD9:375.02 DOID:949" http://identifiers.org/hgnc/18744 CHR:9606-chr3q27 NCBITaxon:1789 "PMID:30186281 GC_ID:11 PMID:13641655" -MONDO:0018989 "Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems." "SCTID:197458008 ICD10:K85.2 Orphanet:64740 ICD10:K85.9 MedDRA:10033657 UMLS:C0267937 ICD10:K85.1 ICD10:K85.3 ICD10:K85.8 ICD10:K85.0" +MONDO:0018989 "Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems." "SCTID:197458008 ICD10CM:K85.2 ICD10CM:K85.9 Orphanet:64740 ICD10CM:K85.8 MedDRA:10033657 ICD10CM:K85.1 UMLS:C0267937 ICD10CM:K85.3 ICD10CM:K85.0" MONDO:0006101 MONDO:0005177 "A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion." "NCIT:C3783 ICDO:8441/0 EFO:0002504" -MONDO:0015402 "Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock." "Orphanet:141174 ICD10:Q27.3 SCTID:703334000" +MONDO:0015402 "Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock." "Orphanet:141174 ICD10CM:Q27.3 SCTID:703334000" MONDO:0006268 "A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." "NCIT:C96843 UMLS:C2184126 EFO:1000323" -MONDO:0009156 "A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982." "ICD10:Q74.8 GARD:0002068 UMLS:C1857040 OMIM:225290 Orphanet:1892 MESH:C565601" -MONDO:0015850 "ICD10:Q52.1 HP:0000145 Orphanet:180160 ICD10:Q52.11" -MONDO:0019308 "Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." "Orphanet:79405 OMIM:226650 ICD10:Q81.8 UMLS:C2673609 UMLS:C2673610 GARD:0002143" -MONDO:0018932 "Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes." "UMLS:C4511053 SCTID:725416005 Orphanet:57777 ICD10:I42.8" +MONDO:0009156 "A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982." "GARD:0002068 UMLS:C1857040 ICD10CM:Q74.8 OMIM:225290 Orphanet:1892 MESH:C565601" +MONDO:0015850 "ICD10CM:Q52.1 HP:0000145 ICD10CM:Q52.11 Orphanet:180160" +MONDO:0019308 "Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." "ICD10CM:Q81.8 Orphanet:79405 OMIM:226650 UMLS:C2673609 UMLS:C2673610 GARD:0002143" +MONDO:0018932 "Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes." "ICD10CM:I42.8 UMLS:C4511053 SCTID:725416005 Orphanet:57777" GO:0010769 "Any process that modulates the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history." NCBITaxon:119068 "GC_ID:11" CHEBI:17544 "The carbon oxoanion resulting from the removal of a proton from carbonic acid." UBERON:0014885 -MONDO:0009490 "Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." "Orphanet:678 OMIM:245000 GARD:0003100 ICD10:Q82.8 DOID:3389 ICD9:759.89 SCTID:40158001 UMLS:C0030360 NCIT:C84992 MESH:D010214" +MONDO:0009490 "Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." "Orphanet:678 OMIM:245000 GARD:0003100 DOID:3389 ICD10CM:Q82.8 ICD9:759.89 SCTID:40158001 UMLS:C0030360 NCIT:C84992 MESH:D010214" MONDO:0019236 "An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process." "MedDRA:10061476 Orphanet:79191" MONDO:0032789 "OMIM:618504" -MONDO:0018257 "An instance of syringomyelia that is caused by an inherited modification of the individual's genome." "ICD10:Q06.4 Orphanet:370034 UMLS:CN204832" +MONDO:0018257 "An instance of syringomyelia that is caused by an inherited modification of the individual's genome." "Orphanet:370034 UMLS:CN204832 ICD10CM:Q06.4" UBERON:0013687 CHR:9606-chr3q26 -MONDO:0010945 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene." "DOID:0110404 GARD:0010387 OMIM:600852 UMLS:C1833245 ICD10:H35.5 MESH:C563437" +MONDO:0010945 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene." "DOID:0110404 GARD:0010387 OMIM:600852 UMLS:C1833245 MESH:C563437" MONDO:0006031 "Chronic form of sinusitis." "ICD9:473.9 EFO:1000024 NCIT:C35151 PMID:25838086 UMLS:C0149516 ICD9:473.8 SCTID:40055000" MONDO:0008761 "GARD:0000616 GARD:0003454 UMLS:C1859850 OMIM:203760 MESH:C565963" MONDO:0032788 "OMIM:618501" -MONDO:0005312 "Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative)." "Orphanet:217067 ICD10:K91.850 ICD9:569.71 UMLS:C0376620 MESH:D019449 EFO:0003921" +MONDO:0005312 "Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative)." "Orphanet:217067 ICD9:569.71 UMLS:C0376620 ICD10CM:K91.850 MESH:D019449 EFO:0003921" UBERON:0014886 http://identifiers.org/hgnc/1260 CHEBI:16526 "A one-carbon compound with formula CO2 in which the carbon is attached to each oxygen atom by a double bond. A colourless, odourless gas under normal conditions, it is produced during respiration by all animals, fungi and microorganisms that depend directly or indirectly on living or decaying plants for food." MONDO:0004616 "A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2." "ICD9:054.6 DOID:8607 SCTID:43891009 UMLS:C0153042 NCIT:C128402" UBERON:0012489 MONDO:0007567 "OMIM:132850" -MONDO:0001378 "A malignant neoplasm involving the urachus." "UMLS:C0153615 ICD9:188.7 ICD10:C67.7 DOID:11817 SCTID:363456000" +MONDO:0001378 "A malignant neoplasm involving the urachus." "UMLS:C0153615 ICD9:188.7 DOID:11817 SCTID:363456000" GO:0071333 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus." GO:0002438 "An acute inflammatory response to an antigenic stimulus. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response." UBERON:0007530 @@ -742,7 +743,7 @@ UBERON:0006598 NCBITaxon:118969 "PMID:16280474 GC_ID:11" MONDO:0023038 "UMLS:C0026707 GARD:0006314" UBERON:0012488 -MONDO:0007340 "Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems." "MESH:D002973 ICD9:755.59 UMLS:C0008928 DOID:13994 OMIM:119600 SCTID:65976001 ICD10:Q74.0 GARD:0006118 OMIM:216330 Orphanet:1452 NCIT:C75020" +MONDO:0007340 "Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems." "MESH:D002973 ICD9:755.59 UMLS:C0008928 DOID:13994 OMIM:119600 SCTID:65976001 ICD10CM:Q74.0 GARD:0006118 OMIM:216330 Orphanet:1452 NCIT:C75020" MONDO:0007302 "UMLS:C1861695 MESH:C566142 OMIM:117850" HP:0040307 "A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity" GO:1903061 "Any process that activates or increases the frequency, rate or extent of protein lipidation." @@ -750,20 +751,20 @@ ENVO:01000676 "Contaminated air is air which has sufficient concentrations of en UBERON:0013685 GO:0006955 "Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat." MONDO:0004807 -MONDO:0005058 "An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." "EFO:0000564 NCIT:C3158 OMIM:613488 ICDO:8890/3 ONCOTREE:LMS MedDRA:10024189 DOID:1967 SCTID:443719001 MESH:D007890 ICD10:C49.9 GARD:0006880 UMLS:C0023269 ICD9:171.9 Orphanet:64720" +MONDO:0005058 "An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas." "EFO:0000564 NCIT:C3158 ICDO:8890/3 ONCOTREE:LMS MedDRA:10024189 ICD10CM:C49.9 DOID:1967 SCTID:443719001 MESH:D007890 GARD:0006880 UMLS:C0023269 ICD9:171.9 Orphanet:64720" http://identifiers.org/hgnc/26193 -MONDO:0001154 "A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash." "DOID:10921 UMLS:C0549160 ICD10:A77.2 ICD9:082.2 SCTID:186781003" +MONDO:0001154 "A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash." "DOID:10921 UMLS:C0549160 ICD9:082.2 SCTID:186781003" MONDO:0043765 "Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process." "NCIT:C116367 MESH:D011304 SCTID:49526009" MONDO:0023039 "UMLS:C0346020 GARD:0010465" UBERON:0012487 UBERON:0006331 MONDO:0029130 "OMIM:618123" -MONDO:0017925 "T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype." "Orphanet:324294 UMLS:CN714013 ICD10:D84.8" -MONDO:0019641 "Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA." "ICD10:N05.7 Orphanet:93126" +MONDO:0017925 "T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype." "ICD10CM:D84.8 Orphanet:324294 UMLS:CN714013" +MONDO:0019641 "Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA." "Orphanet:93126 ICD10CM:N05.7" GO:0001568 "The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood." -MONDO:0019019 "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." "OMIM:259440 OMIM:615066 OMIM:615220 OMIM:613849 GARD:0001017 SCTID:385482004 OMIM:259420 NCIT:C99003 ICD10:Q78.0 OMIM:610967 OMIM:616507 NCIT:C26837 UMLS:C0029434 UMLS:C1859069 SCTID:78314001 OMIM:610915 OMIM:613848 DOID:12347 MESH:D010013 OMIM:610682 MedDRA:10031243 OMIMPS:166200 OMIM:616229 OMIM:166220 OMIM:166210 ICD9:756.51 OMIM:166200 OMIM:614856 OMIM:610968 Orphanet:666 OMIM:613982 OMIM:166230" +MONDO:0019019 "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." "OMIM:259440 OMIM:615066 OMIM:615220 OMIM:613849 GARD:0001017 SCTID:385482004 OMIM:259420 NCIT:C99003 OMIM:610967 OMIM:616507 NCIT:C26837 UMLS:C0029434 UMLS:C1859069 SCTID:78314001 OMIM:610915 OMIM:613848 DOID:12347 MESH:D010013 OMIM:610682 MedDRA:10031243 OMIMPS:166200 OMIM:616229 OMIM:166220 OMIM:166210 ICD9:756.51 OMIM:166200 OMIM:614856 OMIM:610968 Orphanet:666 OMIM:613982 ICD10CM:Q78.0 OMIM:166230" MONDO:0004012 "A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma." "NCIT:C36099 DOID:6847 UMLS:C1332185" -MONDO:0004574 "Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia." "NCIT:C85221 GARD:0004616 SCTID:86448001 DOID:8455 ICD9:266.1 ICD10:E53.1 MESH:D026681 ICD9:281.8" +MONDO:0004574 "Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia." "NCIT:C85221 GARD:0004616 SCTID:86448001 DOID:8455 ICD9:266.1 MESH:D026681 ICD9:281.8" UBERON:0003837 MONDO:0009755 "Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma." "OMIM:257150 MESH:C564942 Orphanet:625 NCIT:C3694 UMLS:C1850380" MONDO:0003931 "An astrocytoma that arises from the visual pathway and occurs during childhood." "UMLS:C1333014 NCIT:C7534 DOID:6575" @@ -771,17 +772,17 @@ NCBITaxon:6681 "GC_ID:1" UBERON:0005399 UBERON:0005133 MONDO:0016751 "A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate." "Orphanet:252128 UMLS:C1266188 ICDO:9571/3 SCTID:761958009 NCIT:C66845" -MONDO:0008964 "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene." "MESH:C536210 ICD9:579.8 GARD:0010001 OMIM:214700 DOID:0060296 ICD10:P78.3 SCTID:24412005 Orphanet:53689" +MONDO:0008964 "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene." "MESH:C536210 ICD10CM:P78.3 ICD9:579.8 GARD:0010001 OMIM:214700 DOID:0060296 SCTID:24412005 Orphanet:53689" MONDO:0011552 "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15." "MESH:D012560 OMIM:605419 DOID:0070086" MONDO:0036484 "UMLS:CN847583 OMIM:617882 DOID:0080294" MONDO:0004801 "UMLS:C0155517 ICD9:386.53 DOID:9496" MONDO:0008500 "UMLS:C1861447 OMIM:185200 MESH:C566104" UBERON:0014881 -MONDO:0002185 "Excessive thickening of bone." "SCTID:203514008 ICD9:733.99 MESH:D015576 ICD10:M89.3 NCIT:C34712 DOID:205 UMLS:C0020492 ICD10:M89.30" +MONDO:0002185 "Excessive thickening of bone." "SCTID:203514008 ICD9:733.99 MESH:D015576 NCIT:C34712 DOID:205 UMLS:C0020492" UBERON:0006338 MONDO:0019048 "OBSOLETE. Any of the forms of vascular disease that have a rare incidence." "Orphanet:68362" UBERON:0010083 -MONDO:0010565 "Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." "SCTID:51445007 Orphanet:319691 ICD9:368.51 DOID:13910 OMIM:303900 EFO:0005580 ICD10:H53.54" +MONDO:0010565 "Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." "SCTID:51445007 Orphanet:319691 ICD9:368.51 DOID:13910 OMIM:303900 EFO:0005580 ICD10CM:H53.54" MONDO:0032785 "OMIM:618498" MONDO:0002375 "A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells." "NCIT:C4174 DOID:2648 UMLS:C1368816 ICDO:8410/0" UBERON:0012486 @@ -793,14 +794,14 @@ MONDO:0029132 "OMIM:618126" MONDO:0014867 "Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor." "Orphanet:497764 UMLS:C4310763 EFO:0009060 DOID:0111745 OMIM:617018" UBERON:0003838 UBERON:0011282 -MONDO:0019315 "Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM)." "NCIT:C3218 GARD:0012686 UMLS:C0024901 ICD10:Q82.2 ICDO:9740/1 Orphanet:79456 DOID:3665 MedDRA:10012812 MESH:D034701" -MONDO:0014293 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12." "ICD10:H90.3 OMIM:615654 DOID:0110582" +MONDO:0019315 "Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM)." "NCIT:C3218 GARD:0012686 UMLS:C0024901 ICDO:9740/1 Orphanet:79456 DOID:3665 MedDRA:10012812 MESH:D034701 ICD10CM:Q82.2" +MONDO:0014293 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12." "OMIM:615654 DOID:0110582" http://identifiers.org/hgnc/28596 UBERON:0005134 GO:0022803 "Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged." MONDO:0100188 "A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III." MONDO:0032784 "OMIM:618497" -MONDO:0004691 "Autosomal dominant form of polycystic kidney disease." "DOID:898 UMLS:C0085413 ICD10:Q61.3 UMLS:CN119611 GARD:0010413 MESH:D016891 ICD9:753.12 EFO:1001496 SCTID:765330003 Orphanet:730 ICD9:753.13 NCIT:C84578" +MONDO:0004691 "Autosomal dominant form of polycystic kidney disease." "DOID:898 UMLS:C0085413 UMLS:CN119611 GARD:0010413 MESH:D016891 ICD9:753.12 EFO:1001496 SCTID:765330003 Orphanet:730 ICD9:753.13 NCIT:C84578" MONDO:0034082 UBERON:0010084 MONDO:0036483 "UMLS:CN795020 OMIM:617866 DOID:0080293" @@ -815,16 +816,16 @@ CL:0019017 "A smooth muscle cell that is part of any lymphatic vessel." CL:0000827 "A lymphoid progenitor cell of the T cell lineage, with some lineage specific marker expression, but not yet fully committed to the T cell lineage." MONDO:0029133 "OMIM:618129" UBERON:0003839 -MONDO:0001207 "ICD9:770.84 ICD10:P28.5 SCTID:95619009 DOID:11161 UMLS:C0521648" +MONDO:0001207 "ICD9:770.84 ICD10CM:P28.5 SCTID:95619009 DOID:11161 UMLS:C0521648" MONDO:0007563 -MONDO:0007874 "Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability." "OMIM:150230 UMLS:C0023003 ICD10:Q87.8 GARD:0007801 MedDRA:10050638 MESH:D015826 Orphanet:502 DOID:4998 ICD9:759.89 SCTID:41069008 NCIT:C75118" +MONDO:0007874 "Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability." "OMIM:150230 UMLS:C0023003 GARD:0007801 MedDRA:10050638 MESH:D015826 ICD10CM:Q87.8 Orphanet:502 DOID:4998 ICD9:759.89 SCTID:41069008 NCIT:C75118" UBERON:0005135 -MONDO:0017376 "Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis." "Orphanet:29207 ICD10:M02.8 ICD10:M02.1 ICD9:099.3 SCTID:129133005 MESH:D016918 ICD9:711.3 NCIT:C128332 MedDRA:10003267 ICD10:M02.3 DOID:6196 ICD10:M02.10 MedDRA:10038294 GARD:0005693 UMLS:CN203069 EFO:0007460 ICD9:711.30 ICD10:M02.30 UMLS:C0085435 ICD9:711.40 UMLS:C0035012" -MONDO:0008995 "Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person." "OMIM:216340 DOID:0060589 GARD:0000331 Orphanet:3472 MESH:C536719 UMLS:C1857663 ICD10:Q87.8" -MONDO:0018933 "Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." "Orphanet:57782 SCTID:699251001 ICD9:215.9 ICD10:M85.0 ICD9:733.29 UMLS:CN205323" +MONDO:0017376 "Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis." "Orphanet:29207 ICD9:099.3 SCTID:129133005 MESH:D016918 ICD9:711.3 NCIT:C128332 MedDRA:10003267 DOID:6196 MedDRA:10038294 GARD:0005693 UMLS:CN203069 EFO:0007460 ICD9:711.30 UMLS:C0085435 ICD9:711.40 UMLS:C0035012" +MONDO:0008995 "Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person." "ICD10CM:Q87.8 OMIM:216340 DOID:0060589 GARD:0000331 Orphanet:3472 MESH:C536719 UMLS:C1857663" +MONDO:0018933 "Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported." "Orphanet:57782 SCTID:699251001 ICD9:215.9 ICD9:733.29 UMLS:CN205323 ICD10CM:M85.0" GO:0048812 "The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites." GO:2000224 "Any process that modulates the frequency, rate or extent of testosterone biosynthetic process." -MONDO:0013249 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene." "Orphanet:90636 ICD10:H90.3 DOID:0110529 OMIM:613391 UMLS:C3150654" +MONDO:0013249 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene." "Orphanet:90636 DOID:0110529 OMIM:613391 UMLS:C3150654" GO:0006111 "Any process that modulates the frequency, rate or extent of gluconeogenesis, the formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol." MONDO:0004803 "DOID:9499 UMLS:C0263662 SCTID:423486005 ICD9:710.8" PO:0025606 "A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment)." "PO_GIT:586" @@ -837,17 +838,17 @@ MONDO:0017968 "46,XY ovotesticular disorder of sex development is a rare, geneti GO:2001152 "Any process that stops, prevents or reduces the frequency, rate or extent of renal water transport." CHR:9606-chr3q29 MONDO:0029134 "OMIM:618131 Orphanet:542301" -MONDO:0001206 "ICD9:365.83 ICD10:H40.83 DOID:11149" +MONDO:0001206 "ICD9:365.83 DOID:11149" MONDO:0009961 "OMIM:266810 MESH:C564853 UMLS:C1849439" http://identifiers.org/hgnc/2464 UBERON:0005136 http://identifiers.org/hgnc/4861 -MONDO:0012805 "Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." "Orphanet:98811 MESH:C564288 DOID:0090045 GARD:0010541 OMIM:612126 ICD10:G24.8 SCTID:724072002 UMLS:C1842534" -MONDO:0006920 "A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes." "UMLS:C0362046 MESH:D011236 ICD10:R73.09 MedDRA:10065542 EFO:1001121 DOID:11716 NCIT:C122685" +MONDO:0012805 "Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." "Orphanet:98811 MESH:C564288 DOID:0090045 GARD:0010541 OMIM:612126 SCTID:724072002 ICD10CM:G24.8 UMLS:C1842534" +MONDO:0006920 "A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes." "UMLS:C0362046 MESH:D011236 MedDRA:10065542 EFO:1001121 DOID:11716 NCIT:C122685" CHEBI:29067 "The conjugate base formed when the carboxy group of a carboxylic acid is deprotonated." MONDO:0000009 "UMLS:C0005818 SCTID:22716005 OMIMPS:231200 MESH:D001791 DOID:2218" CHEBI:32761 "The L-enantiomer of tyrosinate(2-)." -MONDO:0008157 "Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin." "Orphanet:1306 GARD:0001044 Orphanet:166119 OMIM:166700 DOID:0111536 MESH:C537415 ICD10:Q78.8" +MONDO:0008157 "Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin." "Orphanet:1306 GARD:0001044 Orphanet:166119 OMIM:166700 DOID:0111536 MESH:C537415 ICD10CM:Q78.8" UBERON:0012483 MONDO:0000008 GO:0002430 "A series of molecular signals generated as a consequence of a component of the complement pathway binding to a complement receptor. Such components include both whole complement proteins and fragments of complement proteins generated through the activity of the complement pathway." @@ -859,21 +860,21 @@ UBERON:0009097 UBERON:0008998 NCBITaxon:78536 "GC_ID:1" MONDO:0009702 "MESH:C564973 UMLS:C1850744 OMIM:254960" -MONDO:0011248 "Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported." "MESH:C566526 OMIM:602553 SCTID:763527007 Orphanet:1590 UMLS:C1865208 ICD10:Q93.5" +MONDO:0011248 "Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported." "MESH:C566526 OMIM:602553 SCTID:763527007 Orphanet:1590 UMLS:C1865208 ICD10CM:Q93.5" http://identifiers.org/hgnc/7106 MONDO:0000935 "A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare." "UMLS:C0240164 DOID:10071 NCIT:C7742" NCBITaxon:6685 "GC_ID:1" UBERON:0001438 -MONDO:0017335 "Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia." "ICD10:Q99.8 Orphanet:289522" +MONDO:0017335 "Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia." "ICD10CM:Q99.8 Orphanet:289522" GO:1905939 "Any process that modulates the frequency, rate or extent of gonad development." -MONDO:0014577 "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23." "Orphanet:474 ICD10:Q77.2 OMIM:616300 UMLS:C4225378 DOID:0110093" -MONDO:0001642 "A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis." "ICD9:373.11 ICD10:H00.03 DOID:13134 ICD10:H00.01 SCTID:1489008 UMLS:C0019919" +MONDO:0014577 "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23." "Orphanet:474 OMIM:616300 UMLS:C4225378 DOID:0110093" +MONDO:0001642 "A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis." "ICD9:373.11 DOID:13134 SCTID:1489008 UMLS:C0019919" MONDO:0700087 "Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene" "OMIM:276900 MESH:C536485" MONDO:0005402 "A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias." "EFO:0004289 HP:0005526 ICD9:204.2 UMLS:C0152271 ICD9:204 NCIT:C7539 ICDO:981-983 ICDO:9820/3 DOID:10747 UMLS:C0023448 ICD9:204.20 MESH:D007945 SCTID:188726003" CHR:9606-chr8p23 HP:0002524 "A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions." "SNOMEDCT_US:46263000 MSH:D002385 UMLS:C0007384" -MONDO:0017910 "Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed." "DOID:0111575 ICD10:D58.8 Orphanet:3202 GARD:0005623 OMIM:194380 OMIM:616689 SCTID:715526002" -MONDO:0009968 "Orphanet:18 OMIM:267300 ICD9:389.8 UMLS:C0403554 UMLS:C4302514 MESH:C562897 SCTID:236532003 ICD9:588.89 SCTID:722468005 GARD:0004666 Orphanet:93611 Orphanet:402041" +MONDO:0017910 "Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed." "DOID:0111575 Orphanet:3202 GARD:0005623 ICD10CM:D58.8 OMIM:194380 OMIM:616689 SCTID:715526002" +MONDO:0009968 "UMLS:C0403554 Orphanet:93611 OMIM:267300 Orphanet:18 MESH:C562897 SCTID:236532003 Orphanet:402041 ICD9:588.89 UMLS:C4302514 ICD9:389.8 SCTID:722468005 GARD:0004666" http://identifiers.org/hgnc/12649 MONDO:0032781 "OMIM:618494" UBERON:0012482 @@ -881,7 +882,7 @@ MONDO:0015858 "UMLS:CN200460 Orphanet:180202" UBERON:0003832 http://identifiers.org/hgnc/21033 GO:0001216 "A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets." -MONDO:0015144 "An inflammatory disease involving a pathogenic inflammatory response in the brain." "UMLS:CN197488 Orphanet:102005" +MONDO:0015144 "An inflammatory disease involving a pathogenic inflammatory response in the brain." "UMLS:CN197488 Orphanet:102005 ICD10CM:G00-G09" UBERON:0006592 http://identifiers.org/hgnc/7105 http://identifiers.org/hgnc/9768 @@ -896,7 +897,7 @@ GO:0051246 "Any process that modulates the frequency, rate or extent of the chem UBERON:0005130 NCBITaxon:58262 "GC_ID:1" MONDO:0009967 "OMIM:267200 MESH:C537759 GARD:0004670 Orphanet:2785" -MONDO:0003656 "A laboratory test result which indicates free hemoglobin in the urine." "MESH:D006456 NCIT:C34677 UMLS:C0019048 ICD9:791.2 DOID:582 ICD10:R82.3" +MONDO:0003656 "A laboratory test result which indicates free hemoglobin in the urine." "MESH:D006456 NCIT:C34677 UMLS:C0019048 ICD9:791.2 DOID:582 ICD10CM:R82.3" SO:1000182 "A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number." MONDO:0022461 "A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes." "GARD:0000715" MONDO:0023033 @@ -911,8 +912,8 @@ HP:0003593 "Onset of signs or symptoms of disease between 28 days to one year of MONDO:0022934 "UMLS:C2931077 GARD:0001674 MESH:C535989" UBERON:0006591 NCBITaxon:71240 "PMID:25249442 PMID:26724406 GC_ID:1" -MONDO:0016365 "An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome." "Orphanet:2207 ICD10:E21.0 UMLS:CN201220 GARD:0002837" -MONDO:0009966 "ICD10:Q61.9 DOID:0070121 UMLS:C2673885 GARD:0004665 Orphanet:3032 PMID:18371931 MESH:C537756 OMIM:267010" +MONDO:0016365 "An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome." "Orphanet:2207 UMLS:CN201220 ICD10CM:E21.0 GARD:0002837" +MONDO:0009966 "DOID:0070121 UMLS:C2673885 GARD:0004665 ICD10CM:Q61.9 Orphanet:3032 PMID:18371931 MESH:C537756 OMIM:267010" UBERON:0006590 MONDO:0044246 "OBSOLETE. Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976})." "OMIM:164170" NCBITaxon:6683 "GC_ID:1" @@ -921,18 +922,18 @@ HP:0100640 "Presence of a cyst (sac-like structure) located in the larynx." "UML UBERON:0003835 UBERON:0005397 MONDO:0006106 "A benign mesenchymal neoplasm arising from smooth muscle tissue." "NCIT:C6510 UMLS:C1332539 EFO:1000121" -MONDO:0011602 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31." "OMIM:605818 ICD10:H90.3 UMLS:C1853941 DOID:0110485 Orphanet:90636 MESH:C565287" +MONDO:0011602 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31." "OMIM:605818 UMLS:C1853941 DOID:0110485 Orphanet:90636 MESH:C565287" GO:0045272 "A subcomplex of the respiratory chain located in the plasma membrane. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. Examples of this component are found in bacterial species." http://identifiers.org/hgnc/7104 MONDO:0008502 "UMLS:C1861437 OMIM:185460 MESH:C566102" -MONDO:0009934 "A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension." "MESH:C536590 EFO:1001103 UMLS:C0031190 ICD9:747.49 ICD10:P29.3 NCIT:C98809 OMIM:265380 Orphanet:210122 MedDRA:10054726 SCTID:447275002 MESH:D010547 ICD9:747.83 DOID:13042 GARD:0008644" +MONDO:0009934 "A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension." "MESH:C536590 EFO:1001103 UMLS:C0031190 ICD9:747.49 NCIT:C98809 OMIM:265380 Orphanet:210122 MedDRA:10054726 SCTID:447275002 MESH:D010547 ICD9:747.83 DOID:13042 GARD:0008644 ICD10CM:P29.3" MONDO:0032783 "OMIM:618496" -MONDO:0019551 "DOID:0080068 UMLS:C0393807 OMIM:601152 OMIM:616505 ICD10:G60.0 Orphanet:90120" +MONDO:0019551 "DOID:0080068 UMLS:C0393807 OMIM:601152 ICD10CM:G60.0 OMIM:616505 Orphanet:90120" UBERON:0012480 MONDO:0015856 "Orphanet:180193 UMLS:CN226755" MONDO:0023030 "GARD:0002009" MONDO:0003212 "A carcinoma that arises from epithelial cells of the nasal cavity" "DOID:4931 UMLS:C1377785 NCIT:C9336 SCTID:448990005" -MONDO:0018947 "Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy." "UMLS:C0175709 OMIM:160150 GARD:0000101 ICD10:G71.2 Orphanet:595 DOID:14717 OMIMPS:160150 OMIM:615959 Orphanet:596 OMIM:255200 OMIM:614408 SCTID:82077006 OMIM:614807 OMIM:310400" +MONDO:0018947 "Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy." "UMLS:C0175709 ICD10CM:G71.2 OMIM:160150 GARD:0000101 Orphanet:595 DOID:14717 OMIMPS:160150 OMIM:615959 Orphanet:596 OMIM:255200 OMIM:614408 SCTID:82077006 OMIM:614807 OMIM:310400" UBERON:0003834 UBERON:0004199 OBI:0000659 "A planned process with the objective of collecting a specimen." @@ -948,8 +949,8 @@ CL:0000314 UBERON:0005398 http://identifiers.org/hgnc/7103 http://identifiers.org/hgnc/9766 -MONDO:0014094 "STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels." "SCTID:725463007 OMIM:615234 UMLS:C3808920 Orphanet:300298 ICD10:D64.0 UMLS:C4511137" -MONDO:0015855 "OMIM:616001 OMIMPS:113700 OMIM:113700 ICD10:Q83.0 Orphanet:180188" +MONDO:0014094 "STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels." "SCTID:725463007 ICD10CM:D64.0 OMIM:615234 UMLS:C3808920 Orphanet:300298 UMLS:C4511137" +MONDO:0015855 "OMIM:616001 OMIMPS:113700 OMIM:113700 Orphanet:180188" MONDO:0023031 MONDO:0032782 "OMIM:618495" MONDO:0014874 "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene." "UMLS:C4310757 OMIM:617026" @@ -957,34 +958,34 @@ MONDO:0003595 "A morphologic variant of well differentiated liposarcoma occurrin HP:0007957 "A reduction of corneal clarity." "SNOMEDCT_US:95735008 SNOMEDCT_US:64634000 SNOMEDCT_US:413921009 UMLS:C0010038 UMLS:C0521719 MSH:D003318" MONDO:0003420 "An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid." "UMLS:C0334285 ICDO:8161/0 NCIT:C4129 DOID:5384" http://identifiers.org/hgnc/21034 -MONDO:0009671 "Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985." "SCTID:764959000 GARD:0001358 MESH:C535458 UMLS:C1854663 Orphanet:3068 ICD10:Q87.8 OMIM:253320" +MONDO:0009671 "Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985." "SCTID:764959000 GARD:0001358 ICD10CM:Q87.8 MESH:C535458 UMLS:C1854663 Orphanet:3068 OMIM:253320" GO:0043434 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals." -MONDO:0001249 "A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis." "UMLS:C0040592 ICD10:A71.9 ICD10:A71 ICD10:A71.0 ICD9:076 SCTID:2576002 ICD10:A71.1 GARD:0010374 MESH:D014141 DOID:11265 ICD9:076.0 ICD9:076.1 ICD9:076.9" +MONDO:0001249 "A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis." "UMLS:C0040592 ICD9:076 SCTID:2576002 GARD:0010374 MESH:D014141 DOID:11265 ICD9:076.0 ICD9:076.1 ICD9:076.9" UBERON:0007794 GO:0071742 "A protein complex composed of two identical immunoglobulin heavy chains of the IgE isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgE immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph." MONDO:0021539 "A hamartoma (disease) that involves the cutaneous appendage." "ICD9:759.6 SCTID:399906000 NCIT:C5562 UMLS:C1302712" -MONDO:0007569 "OMIM:132990 UMLS:C1851503 GARD:0009259 MESH:C535510" +MONDO:0007569 "OMIM:132990 ICD10CM:L49-L54 UMLS:C1851503 GARD:0009259 MESH:C535510" http://identifiers.org/hgnc/7102 UBERON:0011289 MONDO:0024234 "GARD:0004781" GO:0030279 "Any process that stops, prevents, or reduces the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance." MONDO:0003766 "A cancer involving a dorsal plus ventral thalamus." "SCTID:188287005 NCIT:C4576 UMLS:C0346902 DOID:6098" MONDO:0020641 "A benign or malignant, primary or metastatic neoplasm involving the respiratory tract." "NCIT:C3355 MESH:D012142 EFO:0003853 SCTID:126667002" -MONDO:0015854 "Orphanet:180182 ICD10:Q83.1 MedDRA:10049786" +MONDO:0015854 "Orphanet:180182 MedDRA:10049786" MONDO:0009734 "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene." "Orphanet:276575 DOID:0070219 UMLS:C2931833 OMIM:256450 Orphanet:79643 SCTID:360339005 Orphanet:276598" -MONDO:0043209 "A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin." "NCIT:C84543 SCTID:15890002 GARD:0005768 UMLS:C0001916 MESH:D000417 ICD10:E70.3" -MONDO:0008624 "Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant." "MESH:C536472 UMLS:C1860596 Orphanet:3408 ICD10:M91.8 OMIM:191520 GARD:0005421 SCTID:719041000" -MONDO:0016366 "Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations." "ICD10:E70.1 GARD:0003413 Orphanet:2209 OMIM:261600" +MONDO:0043209 "A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin." "NCIT:C84543 SCTID:15890002 ICD10CM:E70.3 GARD:0005768 UMLS:C0001916 MESH:D000417" +MONDO:0008624 "Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant." "MESH:C536472 UMLS:C1860596 Orphanet:3408 ICD10CM:M91.8 OMIM:191520 GARD:0005421 SCTID:719041000" +MONDO:0016366 "Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations." "GARD:0003413 Orphanet:2209 ICD10CM:E70.1 OMIM:261600" GO:0008240 "Catalysis of the release of an N-terminal tripeptide from a polypeptide." MONDO:0022939 MONDO:0008508 "OMIM:185650 UMLS:C1861404 MESH:C566100" UBERON:0006596 -MONDO:0016040 "Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." "MESH:C535634 GARD:0008610 ICD9:705.89 SCTID:14070001000004105 ICD10:G90.8 Orphanet:199282 UMLS:C2029348" -MONDO:0019143 "A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur." "GARD:0000683 Orphanet:74 UMLS:C0392662 DOID:0050256 MESH:C536369 MedDRA:10069517 ICD10:B81.3 SCTID:61750000 NCIT:C128394 ICD10:B83.2 ICD9:128.8" +MONDO:0016040 "Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." "MESH:C535634 GARD:0008610 ICD9:705.89 SCTID:14070001000004105 Orphanet:199282 UMLS:C2029348 ICD10CM:G90.8" +MONDO:0019143 "A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur." "GARD:0000683 Orphanet:74 ICD10CM:B83.2 UMLS:C0392662 DOID:0050256 MESH:C536369 MedDRA:10069517 SCTID:61750000 NCIT:C128394 ICD10CM:B81.3 ICD9:128.8" MONDO:0020536 http://identifiers.org/hgnc/8565 PATO:0000947 "A spheroid quality inhering in a bearer by virtue of the bearer's being oval with two axes of symmetry, as produced by a conical section." -MONDO:0005259 "A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism." "MESH:D020817 OMIM:300497 GARD:0005855 ICD10:F84.5 OMIM:608631 EFO:0003757 NCIT:C97159 OMIM:608781 OMIM:608638 OMIMPS:608638 Orphanet:1162 DOID:0050432 OMIM:300494 SCTID:23560001 OMIM:609954" +MONDO:0005259 "A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism." "MESH:D020817 OMIM:300497 GARD:0005855 OMIM:608631 EFO:0003757 NCIT:C97159 OMIM:608781 OMIM:608638 OMIMPS:608638 Orphanet:1162 DOID:0050432 OMIM:300494 SCTID:23560001 OMIM:609954" http://identifiers.org/hgnc/6169 MONDO:0007304 "OMIM:118000" PO:0000003 "A plant structure (PO:0005679) which is a whole organism." "PO_GIT:538 PO_GIT:69" @@ -992,7 +993,7 @@ MONDO:0037737 "A rare, usually benign fibroblastic neoplasm that arises from the FOODON:03412112 "*Mollusca* is a large phylum of invertebrate animals whose members are known as molluscs or mollusks. Molluscs are the largest marine phylum, comprising about 23% of all the named marine organisms. Numerous molluscs also live in freshwater and terrestrial habitats. [https://en.wikipedia.org/wiki/Mollusca]"@en CL:1000280 "A smooth muscle cell that is part of the colon." "FMA:15663" MONDO:0004809 -MONDO:0008371 "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases." "ICD10:L81.8 MedDRA:10068651 OMIM:179850 SCTID:239133004 MESH:C562924 DOID:0060256 GARD:0009775 OMIM:615674 OMIM:615696 OMIM:615327 Orphanet:79145" +MONDO:0008371 "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases." "MedDRA:10068651 OMIM:179850 SCTID:239133004 MESH:C562924 DOID:0060256 ICD10CM:L81.8 GARD:0009775 OMIM:615674 OMIM:615696 OMIM:615327 Orphanet:79145" http://identifiers.org/hgnc/30521 GO:0016646 "Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces NAD or NADP." CL:0002305 "An epithelial cell of the distal convoluted tubule of the kidney that helps regulate systemic levels of potassium, sodium, calcium, and pH." "FMA:70981 KUPO:0001055 FMA:62125" @@ -1000,19 +1001,19 @@ CL:0002108 "A CD38-negative IgG memory B cell is a IgG-positive class switched m MONDO:0015853 "Orphanet:180173" MONDO:0006484 "A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells." "SCTID:472905007 NCIT:C27941 UMLS:C3532429 ICD9:611.89 EFO:1000612" GO:0098655 "The process in which a cation is transported across a membrane." -MONDO:0019328 "A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces." "GARD:0006010 ICD10:D18.1 Orphanet:79489 NCIT:C53316" -MONDO:0012382 "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene." "SCTID:721236002 Orphanet:71212 GARD:0009870 MESH:C535310 DOID:0070215 ICD10:E71.3 OMIM:609975 OMIM:231530 UMLS:C4303473 UMLS:C1864948 MESH:C566493" +MONDO:0019328 "A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces." "GARD:0006010 Orphanet:79489 ICD10CM:D18.1 NCIT:C53316" +MONDO:0012382 "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene." "SCTID:721236002 ICD10CM:E71.3 Orphanet:71212 GARD:0009870 MESH:C535310 DOID:0070215 OMIM:609975 OMIM:231530 UMLS:C4303473 UMLS:C1864948 MESH:C566493" MONDO:0010153 "Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983." "Orphanet:3355 MESH:C564760 SCTID:766813000 GARD:0005267 UMLS:C3502453 OMIM:275450" -MONDO:0007363 "Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia." "ICD10:Q68.8 ICD9:759.89 SCTID:205821003 DOID:0111595 MESH:C536211 GARD:0005899 UMLS:C0220668 Orphanet:115 OMIM:121050 NCIT:C129865" +MONDO:0007363 "Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia." "SCTID:205821003 UMLS:C0220668 ICD9:759.89 MESH:C536211 ICD10CM:Q68.8 NCIT:C129865 Orphanet:115 DOID:0111595 OMIM:121050 GARD:0005899" MONDO:0022938 "GARD:0001689" UBERON:0006595 -MONDO:0016500 "Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain." "SCTID:766049000 Orphanet:231466 UMLS:CN201503 ICD10:G61.0" +MONDO:0016500 "Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain." "ICD10CM:G61.0 SCTID:766049000 Orphanet:231466 UMLS:CN201503" MONDO:0008507 "OMIM:185610" CL:0000023 "A female germ cell that has entered meiosis." "WBbt:0006797 FMA:18644 FBbt:00004886 BTO:0000964 CALOHA:TS-0711" GO:2000848 "Any process that activates or increases the frequency, rate or extent of corticosteroid hormone secretion." MONDO:0023037 -MONDO:0012975 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." "OMIM:612643 ICD10:H90.3 UMLS:C2675237 MESH:C567215 DOID:0110565" -MONDO:0016696 "A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." "OMIM:616568 ONCOTREE:AODG MedDRA:10026659 ICD10:C79.1 ICDO:9451/3 OMIM:137800 NCIT:C4326 ICD10:C71.9 UMLS:C0334590 Orphanet:251630 GARD:0009472 EFO:0002501" +MONDO:0012975 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." "OMIM:612643 UMLS:C2675237 MESH:C567215 DOID:0110565" +MONDO:0016696 "A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)." "OMIM:616568 ONCOTREE:AODG MedDRA:10026659 ICD10CM:C79.1 ICDO:9451/3 OMIM:137800 NCIT:C4326 UMLS:C0334590 Orphanet:251630 GARD:0009472 EFO:0002501" NCBITaxon:6687 "GC_ID:1" MONDO:0100250 "OMIM:400045" MONDO:0017050 "Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations." "UMLS:C1883694 UMLS:CN202409 Orphanet:268139 NCIT:C66806" @@ -1021,16 +1022,16 @@ MONDO:0043693 "A disorder caused by damage to the liver parenchyma due to alcoho MONDO:0000482 "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions." "UMLS:C0154676 DOID:0050841 ICD9:333.84 SCTID:52008007 MESH:D020821" CL:0000311 MONDO:0009878 "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene." "OMIM:262600 Orphanet:90695 UMLS:C0878683 Orphanet:95494" -MONDO:0010951 "A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13." "ICD10:I42.0 OMIM:600884 UMLS:C0340427 DOID:0110443" +MONDO:0010951 "A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13." "ICD10CM:I42.0 OMIM:600884 UMLS:C0340427 DOID:0110443" MONDO:0007305 "UMLS:C1861693 OMIM:118005 HP:0008469 MESH:C566140" MONDO:0024498 "OMIM:137800 Orphanet:182067" -MONDO:0010227 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene." "DOID:0110414 MESH:C564520 OMIM:300029 ICD10:H35.5 UMLS:C1845667 Orphanet:791 GARD:0010381" +MONDO:0010227 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene." "DOID:0110414 MESH:C564520 OMIM:300029 UMLS:C1845667 Orphanet:791 GARD:0010381" GO:1903018 "Any process that modulates the frequency, rate or extent of glycoprotein metabolic process." http://identifiers.org/hgnc/30788 MONDO:0015852 "Orphanet:180170" -MONDO:0018999 "LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." "SCTID:49227001 OMIM:245900 Orphanet:650 ICD10:E78.6 OMIM:136120" -MONDO:0004677 "A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions." "ICD10:B36.1 UMLS:C0152067 ICD9:111.1 SCTID:183342005 DOID:8912" -MONDO:0008882 "Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." "OMIM:211355 ICD10:Q68.5 OMIM:264050 ICD10:Q68.4 Orphanet:2292 ICD10:Q68.8 SCTID:716098006 ICD10:Q68.3 GARD:0000953 MedDRA:10054064" +MONDO:0018999 "LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." "SCTID:49227001 OMIM:245900 ICD10CM:E78.6 Orphanet:650 OMIM:136120" +MONDO:0004677 "A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions." "UMLS:C0152067 ICD10CM:B36.1 ICD9:111.1 SCTID:183342005 DOID:8912" +MONDO:0008882 "Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae." "OMIM:211355 ICD10CM:Q68.4 OMIM:264050 Orphanet:2292 SCTID:716098006 ICD10CM:Q68.3 ICD10CM:Q68.8 ICD10CM:Q68.5 GARD:0000953 MedDRA:10054064" MONDO:0022937 "GARD:0001684" UBERON:0001435 MONDO:0008506 "MESH:C566101 OMIM:185600 UMLS:C1861418" @@ -1039,14 +1040,14 @@ MONDO:0025699 "OMIM:619325" http://identifiers.org/hgnc/26190 GO:0042135 "The chemical reactions and pathways resulting in the breakdown of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell." MONDO:0100237 "An instance of cutis laxa that is inherited." "OMIM:612940 OMIM:614434 OMIM:123700 OMIMPS:123700 OMIM:614437 OMIM:219100 OMIM:614438 OMIM:613177 OMIM:219200 OMIM:219150" -MONDO:0008137 "Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993." "Orphanet:2756 DOID:0060380 UMLS:C1833796 SCTID:722075004 ICD10:Q87.0 OMIM:165590 MESH:C563491 GARD:0004061" -MONDO:0100251 "GARD:0010879 Orphanet:53715 NCIT:C131851 DOID:0111063 UMLS:C1876187 Orphanet:306661 ICD10:M11.2" -MONDO:0015590 "Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed." "ICD10:G13.1 Orphanet:163898" -MONDO:0015986 "Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." "Orphanet:1848 NCIT:C101219 ICD10:Q60.1 DOID:0080200" +MONDO:0008137 "Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993." "Orphanet:2756 DOID:0060380 UMLS:C1833796 ICD10CM:Q87.0 SCTID:722075004 OMIM:165590 MESH:C563491 GARD:0004061" +MONDO:0100251 "GARD:0010879 Orphanet:53715 NCIT:C131851 DOID:0111063 UMLS:C1876187 Orphanet:306661 ICD10CM:M11.2" +MONDO:0015590 "Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed." "Orphanet:163898 ICD10CM:G13.1" +MONDO:0015986 "Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth." "Orphanet:1848 ICD10CM:Q60.1 NCIT:C101219 DOID:0080200" GO:0042105 "A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein." -MONDO:0021148 "A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma." "EFO:1001331 MESH:D005833 UMLS:C0017416 NCIT:C3053" -MONDO:0019341 "A neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features." "Orphanet:805 GARD:0007830 OMIM:191100 GARD:0000946 MedDRA:10045138 OMIM:613254 ICD10:Q85.1" -MONDO:0009969 "MESH:C564849 Orphanet:1092 ICD10:Q87.8 UMLS:C1849432 GARD:0004664 OMIM:267400" +MONDO:0021148 "A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma." "EFO:1001331 MESH:D005833 UMLS:C0017416 NCIT:C3053 ICD10CM:C51-C58" +MONDO:0019341 "A neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features." "Orphanet:805 GARD:0007830 OMIM:191100 GARD:0000946 MedDRA:10045138 OMIM:613254" +MONDO:0009969 "MESH:C564849 Orphanet:1092 UMLS:C1849432 GARD:0004664 ICD10CM:Q87.8 OMIM:267400" MONDO:0042370 "SCTID:80960004" http://identifiers.org/hgnc/24891 MONDO:0009703 "OMIM:255100 UMLS:C0410214" @@ -1054,10 +1055,9 @@ NCBITaxon:33090 "GC_ID:1 PMID:30257078 PMID:16248873" MONDO:0024953 "A departure from the normal gait in animals." "MESH:D007794" UBERON:0001434 MONDO:0020539 "UMLS:CN207440 Orphanet:99913" -MONDO:0016810 "Autosomal recessive form of progressive external ophthalmoplegia." "OMIM:258450 MESH:C564926 OMIM:617069 ICD10:H49.4 Orphanet:254886" +MONDO:0016810 "Autosomal recessive form of progressive external ophthalmoplegia." "OMIM:258450 ICD10CM:H49.4 MESH:C564926 OMIM:617069 Orphanet:254886" MONDO:0016956 "Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person." "Orphanet:262869 GARD:0005351 MESH:C537650 UMLS:C1802398" UBERON:0003831 -MONDO:0006086 "A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma." "MESH:D009232 UMLS:C0027149 ICDO:8841/0 NCIT:C3254 EFO:1000087 ICD9:215.9 ICDO:8841/1 SCTID:404083008" MONDO:0022936 "MESH:C535991 UMLS:C2931078" MONDO:0015851 "Orphanet:180163" MONDO:0008505 "OMIM:185540" @@ -1069,24 +1069,24 @@ GO:1903551 "Any process that modulates the frequency, rate or extent of extracel GO:0006024 "The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars." CHEBI:35341 "Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene which is a triterpene." MONDO:0020710 "Inflammation of the amnion." "NCIT:C50459 ICD9:658.40 UMLS:C0002631 SCTID:10573002" -MONDO:0019266 "SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis." "MedDRA:10051316 ICD9:706.1 DOID:13677 EFO:1001164 ICD10:M86.3 SCTID:60684003 Orphanet:793 UMLS:C0263859 MESH:D020083 GARD:0007606 NCIT:C119049" +MONDO:0019266 "SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis." "MedDRA:10051316 ICD9:706.1 DOID:13677 EFO:1001164 SCTID:60684003 Orphanet:793 ICD10CM:M86.3 UMLS:C0263859 MESH:D020083 GARD:0007606 NCIT:C119049" http://identifiers.org/hgnc/336 UBERON:2001053 MONDO:0013244 "Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene." "OMIM:613382 DOID:0110976 UMLS:C3150644 Orphanet:93387" UBERON:0004190 MONDO:0021761 "An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet." "GARD:0000478" -MONDO:0000367 "A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea." "DOID:0050596 SCTID:69163003 ICD9:123.2 ICD10:B68 ICD10:B68.1 NCIT:C85180 UMLS:C0152073 EFO:1001433 MESH:D013622" -MONDO:0018474 "13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain." "Orphanet:412035 UMLS:CN237459 ICD10:Q93.5" +MONDO:0000367 "A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea." "DOID:0050596 SCTID:69163003 ICD10CM:B68 ICD9:123.2 NCIT:C85180 UMLS:C0152073 EFO:1001433 MESH:D013622" +MONDO:0018474 "13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain." "ICD10CM:Q93.5 Orphanet:412035 UMLS:CN237459" UBERON:0018326 GO:0051674 "Any process in which a cell is transported to, and/or maintained in, a specific location." -MONDO:0008215 "Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment." "SCTID:448054001 GARD:0010587 ICD10:E75.2 OMIM:169500 Orphanet:99027 MESH:C566813 DOID:0060785" +MONDO:0008215 "Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment." "SCTID:448054001 GARD:0010587 OMIM:169500 Orphanet:99027 MESH:C566813 DOID:0060785 ICD10CM:E75.2" GO:0035235 "A series of molecular signals initiated by glutamate binding to a glutamate receptor on the surface of the target cell, followed by the movement of ions through a channel in the receptor complex. Ends with regulation of a downstream cellular process, e.g. transcription." CHR:9606-chr8q21.1 MONDO:0010131 "A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum." "HGNC:11799 GARD:0000301 NCIT:C85191 Orphanet:3221 OMIM:274300" MONDO:0006254 "An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." "NCIT:C4126 ICDO:8144/3 UMLS:C0334279 EFO:1000304" -MONDO:0008692 "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations." "ICD10:E78.6 UMLS:C0000744 MESH:D000012 GARD:0000005 NCIT:C84525 OMIM:200100 DOID:1386 Orphanet:14 SCTID:190787008" +MONDO:0008692 "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations." "UMLS:C0000744 MESH:D000012 GARD:0000005 NCIT:C84525 OMIM:200100 ICD10CM:E78.6 DOID:1386 Orphanet:14 SCTID:190787008" http://identifiers.org/hgnc/12642 -MONDO:0016215 "A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities." "ICD10:G11.4 OMIMPS:603513 NCIT:C116904 DOID:10970 OMIM:617008 OMIM:603513 SCTID:192965001 OMIMPS:612900 ICD9:344.09 OMIM:612900 Orphanet:210141 MESH:D002547 ICD9:343.2 GARD:0010447 UMLS:C0154697" +MONDO:0016215 "A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities." "ICD10CM:G11.4 OMIMPS:603513 NCIT:C116904 DOID:10970 OMIM:617008 OMIM:603513 SCTID:192965001 OMIMPS:612900 ICD9:344.09 OMIM:612900 Orphanet:210141 MESH:D002547 ICD9:343.2 GARD:0010447 UMLS:C0154697" GO:0044431 "OBSOLETE. Any constituent part of the Golgi apparatus, a compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack." MONDO:0003803 "A disease involving the aortic valve." "UMLS:C1260873 ICD9:424.1 NCIT:C78650 DOID:62 ICD9:395" http://identifiers.org/hgnc/2209 @@ -1095,52 +1095,52 @@ UBERON:0001694 GO:0019200 "Catalysis of the transfer of a phosphate group, usually from ATP, to a carbohydrate substrate molecule." MONDO:0000264 MONDO:0014643 "OMIM:616449 Orphanet:464738 UMLS:C4225323" -MONDO:0009879 "Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive." "MESH:C537505 OMIM:262650 Orphanet:631 Orphanet:629 ICD10:E23.0 UMLS:C1849779 GARD:0000408" -MONDO:0018358 "Orphanet:398109 ICD10:D59.1" -MONDO:0014153 "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene." "DOID:0111024 UMLS:C3809299 OMIM:615374 Orphanet:1872" +MONDO:0009879 "Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive." "ICD10CM:E23.0 MESH:C537505 OMIM:262650 Orphanet:631 Orphanet:629 GARD:0000408 UMLS:C1849779" +MONDO:0018358 "ICD10CM:D59.1 Orphanet:398109" +MONDO:0014153 "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene." "UMLS:C3809299 DOID:0111024 OMIM:615374 Orphanet:1872" GO:0060294 "Movement of cilia mediated by motor proteins that contributes to the movement of a cell." ENVO:02500001 "A type of land degradation in which terrestrial ecosystem becomes increasingly dry, typically losing its bodies of water as well as vegetation and wildlife." MONDO:0005250 "Inflammatory process that involves the chorionic villi (villitis) of the placenta." "EFO:0003110 SCTID:388604008 UMLS:C1270169" ENVO:01000752 "An area of a planet's surface which is primarily composed of bedrock, desert pavement, scarp rock, talus, material exposed by slides, volcanic material, glacial debris, sand, material exposed during strip mining, gravel, and other accumulations of earthen material in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction." -MONDO:0010094 "Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." "MESH:C535780 ICD9:758.89 GARD:4974 GARD:0004974 SCTID:702351004 ICD10:Q76.4 OMIM:272460 DOID:0090116 UMLS:C1848934 Orphanet:3275" +MONDO:0010094 "Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." "Orphanet:3275 GARD:4974 SCTID:702351004 DOID:0090116 ICD10CM:Q76.4 UMLS:C1848934 GARD:0004974 MESH:C535780 ICD9:758.89 OMIM:272460" CL:0000165 "An endocrine cell that has the specialized function to produce and secrete hormones in response to neuronal signals." "FMA:83810 BTO:0002691" UBERON:0001697 -MONDO:0001242 "A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn." "NCIT:C111856 DOID:11246 ICD10:P60 UMLS:C0158992 ICD9:776.2 SCTID:34417008" -MONDO:0019559 "UMLS:CN227653 Orphanet:90282 ICD10:L93.2" -MONDO:0007443 "Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." "Orphanet:1166 SCTID:51409009 OMIM:125520 ICD10:Q87.0 ICD9:759.89" -MONDO:0018359 "Orphanet:398117 ICD10:M33.1" +MONDO:0001242 "A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn." "NCIT:C111856 DOID:11246 UMLS:C0158992 ICD9:776.2 SCTID:34417008" +MONDO:0019559 "UMLS:CN227653 ICD10CM:L93.2 Orphanet:90282" +MONDO:0007443 "Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)." "Orphanet:1166 ICD10CM:Q87.0 SCTID:51409009 OMIM:125520 ICD9:759.89" +MONDO:0018359 "Orphanet:398117 ICD10CM:M33.1" MONDO:0014068 "A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26." "UMLS:C3554610 OMIM:615163 DOID:0111023" ENVO:01000637 "Outer space is a hard vacuum containing a low density of particles, predominantly a plasma of hydrogen and helium as well as electromagnetic radiation, magnetic fields, neutrinos, dust and cosmic rays that exists between celestial bodies." -MONDO:0001460 "ICD9:246.1 UMLS:C0152077 SCTID:190304001 DOID:12175 ICD10:E07.1" +MONDO:0001460 "ICD9:246.1 UMLS:C0152077 SCTID:190304001 DOID:12175" MONDO:0015340 "DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6." "SCTID:702809001 Orphanet:139402 MedDRA:10058919 MESH:D063926" MONDO:0013723 "Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene." "OMIM:614382" http://identifiers.org/hgnc/333 MONDO:0037871 "A disease that has its basis in the disruption of cellular amino acid metabolic process." "SCTID:44779003 NCIT:C97090" GO:0009142 "The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar." MONDO:0022942 "GARD:0001693" -MONDO:0020444 "Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated." "ICD10:Q26.8 Orphanet:99113 SCTID:766756002" +MONDO:0020444 "Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated." "ICD10CM:Q26.8 Orphanet:99113 SCTID:766756002" http://identifiers.org/hgnc/11448 MONDO:0018356 "UMLS:CN226097 Orphanet:398091" GO:0090030 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones." -MONDO:0014539 "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene." "OMIM:616220 ICD10:N04.1 DOID:0111134 UMLS:C4015555" +MONDO:0014539 "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene." "OMIM:616220 DOID:0111134 UMLS:C4015555" SO:0002343 "Cytosolic rRNA is an RNA component of the small or large subunits of cytosolic ribosomes." HP:0004354 "Any deviation from the normal concentration of a carboxylic acid in the blood circulation." "UMLS:C4025344" UBERON:0001691 -MONDO:0001294 "Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause." "DOID:11486 SCTID:192915005 MESH:D006732 NCIT:C28155 GARD:0006670 ICD10:G90.2 ICD9:337.09" -MONDO:0011275 "A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type." "SCTID:718559000 OMIM:602875 Orphanet:40 DOID:0080050 ICD10:Q77.8 MESH:C535661 GARD:0000507" +MONDO:0001294 "Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause." "DOID:11486 SCTID:192915005 MESH:D006732 NCIT:C28155 GARD:0006670 ICD9:337.09" +MONDO:0011275 "A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type." "SCTID:718559000 ICD10CM:Q77.8 OMIM:602875 Orphanet:40 DOID:0080050 MESH:C535661 GARD:0000507" MONDO:0017158 "Orphanet:275844" HP:0010980 "An abnormal increase in the level of lipoprotein cholesterol in the blood." "SNOMEDCT_US:3744001 MSH:D006951 UMLS:C0020476" -MONDO:0015892 "Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency." "Orphanet:181393 UMLS:C0271568 ICD10:E34.3 UMLS:CN200504 NCIT:C129867 UMLS:C4318479 GARD:0003924" +MONDO:0015892 "Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency." "Orphanet:181393 UMLS:C0271568 ICD10CM:E34.3 UMLS:CN200504 NCIT:C129867 UMLS:C4318479 GARD:0003924" MONDO:0023040 "GARD:0002043" CHR:9606-chr5q31.3 -MONDO:0004729 "Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus)." "DOID:9192 ICD10:K22.4 UMLS:C0014858 EFO:1001785 SCTID:266434009 MESH:D015154 ICD9:530.5" +MONDO:0004729 "Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus)." "ICD10CM:K22.4 DOID:9192 UMLS:C0014858 EFO:1001785 SCTID:266434009 MESH:D015154 ICD9:530.5" MONDO:0022941 "GARD:0001692" MONDO:0044777 "GTR:AN1172965 UMLS:CN753759 UMLS:CN757793 OMIM:618014" -MONDO:0011424 "Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas." "UMLS:C1858592 ICD10:D44.8 NCIT:C94833 SCTID:733492003 Orphanet:139411 GARD:0010924 MESH:C565803 OMIM:604287" -MONDO:0018357 "Orphanet:398097 ICD10:D68.6 UMLS:CN226098" +MONDO:0011424 "Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas." "UMLS:C1858592 SCTID:733492003 NCIT:C94833 Orphanet:139411 GARD:0010924 ICD10CM:D44.8 MESH:C565803 OMIM:604287" +MONDO:0018357 "Orphanet:398097 UMLS:CN226098 ICD10CM:D68.6" MONDO:0004387 "A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required." "DOID:7880 UMLS:C0024167 NCIT:C40445 MESH:D018311 UMLS:C1517842" MONDO:0100013 "Paratenonitis associated with intratendinous degeneration." -MONDO:0004967 "Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia." "OMIM:613067 ICD10:C91.9 DOID:1037 GARD:0000522 MESH:D007945 UMLS:C0023448 NCIT:C3167 OMIM:613065 OMIM:247640 ICDO:9835/3 Orphanet:513 HP:0006721 ICD10:C91.00 ICD9:204.00 OMIM:615545 EFO:0000220 SCTID:91857003 ICD10:C91.90 DOID:9952 ICD9:204.0 ICD10:C91.0 ICD9:204 ICD9:204.9 ICD10:C91" +MONDO:0004967 "Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia." "OMIM:613067 DOID:1037 GARD:0000522 MESH:D007945 UMLS:C0023448 NCIT:C3167 OMIM:613065 OMIM:247640 ICDO:9835/3 Orphanet:513 HP:0006721 ICD9:204.00 OMIM:615545 EFO:0000220 SCTID:91857003 DOID:9952 ICD9:204.0 ICD9:204 ICD9:204.9" MONDO:0002242 "Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding." "UMLS:C0600503 SCTID:86075001 DOID:2212 MESH:D020147 NCIT:C27215" MONDO:0007267 "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene." "UMLS:C1861863 DOID:0110309 OMIM:115196 MESH:C566170" UBERON:0001690 @@ -1152,13 +1152,13 @@ MONDO:0024950 "Diseases of domestic and wild horses of the species Equus caballu MONDO:0017159 "UMLS:CN202581 Orphanet:275853" MONDO:0000260 MONDO:0022940 -MONDO:0014647 "UMLS:C4225320 Orphanet:448010 DOID:0080419 OMIM:616457 ICD10:E77.8" -MONDO:0012718 "This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia." "MESH:C567126 UMLS:C4510567 UMLS:C2673642 DOID:0111473 Orphanet:137908 ICD10:E88.8 SCTID:724279004 OMIM:611719" +MONDO:0014647 "UMLS:C4225320 Orphanet:448010 DOID:0080419 OMIM:616457 ICD10CM:E77.8" +MONDO:0012718 "This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia." "MESH:C567126 UMLS:C4510567 UMLS:C2673642 DOID:0111473 ICD10CM:E88.8 Orphanet:137908 SCTID:724279004 OMIM:611719" MONDO:0013530 "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene." "OMIM:614022 Orphanet:334 UMLS:C3151464" http://identifiers.org/hgnc/13841 MONDO:0010447 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene." "UMLS:C0796225 OMIM:300844 Orphanet:777 MESH:C563141" -MONDO:0100125 "A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses." "ICD10:F16.183" -MONDO:0015087 "Autosomal dominant form of complex hereditary spastic paraplegia." "UMLS:CN226593 ICD10:G11.4 Orphanet:100979" +MONDO:0100125 "A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses." +MONDO:0015087 "Autosomal dominant form of complex hereditary spastic paraplegia." "UMLS:CN226593 Orphanet:100979 ICD10CM:G11.4" MONDO:0017321 "Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive." "UMLS:C2931483 Orphanet:2890" HP:0012091 "An anomaly of the function of the pancreas." "UMLS:C4023048" MONDO:0006748 "A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" "ICD9:345.70 MedDRA:10015034 MESH:D017036 SCTID:241006 ICD9:345.7 EFO:1000924" @@ -1166,14 +1166,14 @@ http://identifiers.org/hgnc/330 NBO:0000317 "\"Behavior related to the awareness of body balance and movement.\" [MBP:GVG]" MONDO:0006329 "An olfactory neuroblastoma arising in the paranasal sinus." "NCIT:C3789 ICDO:9523/3 ICDO:9522/3 ONCOTREE:ONBL DOID:369 EFO:1000407" MONDO:0100175 "A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes." -MONDO:0019555 "Orphanet:90159 UMLS:CN227651 ICD10:E88.1" +MONDO:0019555 "ICD10CM:E88.1 Orphanet:90159 UMLS:CN227651" MONDO:0003399 "A yolk sac tumor that involves the pineal body." "DOID:5341 NCIT:C6752 UMLS:C1335420" -MONDO:0009158 "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive." "ICD10:Q79.6 Orphanet:75501 MESH:C565600 SCTID:83586000 GARD:0008508 OMIM:225310" -MONDO:0020382 "Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age." "Orphanet:99003 UMLS:CN207256 SCTID:723408004 ICD10:H35.5" +MONDO:0009158 "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive." "Orphanet:75501 MESH:C565600 SCTID:83586000 GARD:0008508 OMIM:225310 ICD10CM:Q79.6" +MONDO:0020382 "Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age." "ICD10CM:H35.5 Orphanet:99003 UMLS:CN207256 SCTID:723408004" GO:0006573 "The chemical reactions and pathways involving valine, 2-amino-3-methylbutanoic acid." GO:1901227 "Any negative regulation of transcription from RNA polymerase II promoter that is involved in heart development." -MONDO:0013961 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene." "ICD10:E23.0 UMLS:C3554021 OMIM:614897 DOID:0090080" -MONDO:0018355 "Orphanet:398079 UMLS:CN226095 ICD10:Q87.1" +MONDO:0013961 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene." "UMLS:C3554021 OMIM:614897 DOID:0090080" +MONDO:0018355 "Orphanet:398079 ICD10CM:Q87.1 UMLS:CN226095" MONDO:0021103 "OBSOLETE. Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)" "UMLS:C0009326 ICD9:710.8 ICD9:710.9 MESH:D003095 DOID:854 SCTID:81573002" MONDO:0021368 "A neoplasm (disease) that involves the major salivary gland." "UMLS:C0345599 NCIT:C4407 SCTID:126787005" GO:0009295 "The region of a virus, bacterial cell, mitochondrion or chloroplast to which the nucleic acid is confined." @@ -1183,10 +1183,10 @@ MONDO:0014648 "UMLS:C4085595 OMIM:616459" MONDO:0600001 "Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene." MONDO:0100247 "OMIMPS:614080" MONDO:0005396 "An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta." "OMIM:615436 Orphanet:91387 OMIM:607086 OMIM:611788 MESH:D017545 OMIM:613780 NCIT:C27001 SCTID:433068007 EFO:0004282 DOID:14004 OMIM:132900 OMIM:607087 UMLS:C0162872" -MONDO:0005647 "A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia." "SCTID:266113007 ICD10:A63.0 MESH:D003218 EFO:0007147 NCIT:C4820 ICD9:078.11 DOID:11168" +MONDO:0005647 "A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia." "SCTID:266113007 MESH:D003218 EFO:0007147 NCIT:C4820 ICD9:078.11 DOID:11168" MONDO:0100005 "Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected." MONDO:0015859 "UMLS:CN200461 Orphanet:180205" -MONDO:0017157 "SCTID:697910001 UMLS:CN202580 UMLS:C3698136 Orphanet:275837 ICD9:416.8 ICD10:I27.2" +MONDO:0017157 "ICD10CM:I27.2 SCTID:697910001 UMLS:CN202580 UMLS:C3698136 Orphanet:275837 ICD9:416.8" HP:0045014 "UMLS:C0342892 SNOMEDCT_US:238090007" CL:0000306 "FBbt:00004193" MONDO:0100012 "Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium." @@ -1195,12 +1195,12 @@ MONDO:0029135 "OMIM:618135" http://identifiers.org/hgnc/2201 MONDO:0011040 "MESH:C563348 OMIM:601344 UMLS:C1832464" UBERON:0000490 -MONDO:0001205 "SCTID:29369005 ICD10:H40.82 UMLS:C0154968 DOID:11148 ICD9:365.81" -MONDO:0005133 "The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs." "NCIT:C3014 SCTID:129103003 ICD10:N80.9 ICD10:N80 ICD9:617.8 DOID:289 MESH:D004715 ICD9:617.9 HP:0030127 ICD9:617 EFO:0001065" -MONDO:0021439 "A benign neoplasm that involves the pituitary gland." "UMLS:C0496901 SCTID:92296004 ICD10:D35.2 DOID:60009 NCIT:C4782" +MONDO:0001205 "SCTID:29369005 UMLS:C0154968 DOID:11148 ICD9:365.81" +MONDO:0005133 "The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs." "NCIT:C3014 SCTID:129103003 ICD10CM:N80 ICD9:617.8 DOID:289 MESH:D004715 ICD9:617.9 HP:0030127 ICD9:617 EFO:0001065" +MONDO:0021439 "A benign neoplasm that involves the pituitary gland." "UMLS:C0496901 SCTID:92296004 ICD10CM:D35.2 DOID:60009 NCIT:C4782" MONDO:0003525 "A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome." "UMLS:C1368066 NCIT:C95596 DOID:5580 MESH:D015408 NCIT:C9069" -MONDO:0001964 "A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections." "SCTID:87665008 ICD10:H66.1 ICD9:382.1 ICD10:H66.10 UMLS:C0155440 DOID:14435" -MONDO:0009562 "Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity." "GARD:0000869 UMLS:C4048196 NCIT:C84596 DOID:3633 Orphanet:118 SCTID:238047006 OMIM:248510 ICD9:271.8 MESH:D044905 ICD10:E77.1" +MONDO:0001964 "A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections." "SCTID:87665008 ICD9:382.1 UMLS:C0155440 ICD10CM:H66.1 DOID:14435" +MONDO:0009562 "Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity." "GARD:0000869 ICD10CM:E77.1 UMLS:C4048196 NCIT:C84596 DOID:3633 Orphanet:118 SCTID:238047006 OMIM:248510 ICD9:271.8 MESH:D044905" MONDO:0006803 "Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." "MESH:D056989 EFO:1000983 MedDRA:10057546 DOID:5850 UMLS:C0340305" HP:0004447 "The presence of abnormally shaped erythrocytes." "UMLS:C0221281 SNOMEDCT_US:165479004" http://identifiers.org/hgnc/29796 @@ -1209,15 +1209,15 @@ MONDO:0005639 "A prodromal phase of infection with the human immunodeficiency vi MONDO:0002668 MONDO:0011878 "A hyperostosis that has material basis in a mutation in the LRP5 gene which results in increased bone density and bony structures located in palate." "DOID:0080037 SCTID:254131007 GARD:0009488 Orphanet:3416 OMIM:607636" MONDO:0000007 -MONDO:0018178 "Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies." "HP:0002593 GARD:0012331 SCTID:197260007 ICD9:457.1 MedDRA:10025213 ICD10:I89.0 Orphanet:36204" +MONDO:0018178 "Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies." "HP:0002593 GARD:0012331 SCTID:197260007 ICD9:457.1 MedDRA:10025213 ICD10CM:I89.0 Orphanet:36204" HP:0000593 "Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris." "SNOMEDCT_US:204142009 UMLS:C3152182" MONDO:0005162 MONDO:0010528 "Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions." "UMLS:C0003126 HP:0000458 MESH:D000857 SCTID:44169009 OMIM:301700" HP:0011804 "A functional abnormality of a skeletal muscle." "UMLS:C4023182" CHEBI:76738 "An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on peroxide as donors (EC 1.11.*.*)." -MONDO:0010598 "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes." "Orphanet:264580 DOID:0111042 MedDRA:10053242 ICD10:E74.0 DOID:2751 EFO:1000952 SCTID:235908005 MESH:C564421 SCTID:41527003 MESH:D006015 OMIM:306000 GARD:0006538 UMLS:C0017927" +MONDO:0010598 "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes." "Orphanet:264580 DOID:0111042 MedDRA:10053242 ICD10CM:E74.0 DOID:2751 EFO:1000952 SCTID:235908005 MESH:C564421 SCTID:41527003 MESH:D006015 OMIM:306000 GARD:0006538 UMLS:C0017927" MONDO:0029136 "OMIM:618138 Orphanet:565837" -MONDO:0005486 "A rare developmental dental anomaly in humans characterized by the absence of six or more teeth." "MESH:D000848 OMIM:602639 EFO:0005410 Orphanet:99798 OMIM:610926 ICD10:K00.0 OMIM:616724 OMIM:106600 OMIMPS:106600 UMLS:CN169366 ICD9:520.0 SCTID:16958000 OMIM:150400 OMIM:617073 SCTID:64969001 OMIM:313500 OMIM:604625 Orphanet:2227 DOID:0050591" +MONDO:0005486 "A rare developmental dental anomaly in humans characterized by the absence of six or more teeth." "MESH:D000848 OMIM:602639 EFO:0005410 Orphanet:99798 OMIM:610926 OMIM:616724 OMIM:106600 OMIMPS:106600 UMLS:CN169366 ICD10CM:K00.0 ICD9:520.0 SCTID:16958000 OMIM:150400 OMIM:617073 SCTID:64969001 OMIM:313500 OMIM:604625 Orphanet:2227 DOID:0050591" GO:1903729 "Any process that modulates the frequency, rate or extent of plasma membrane organization." http://identifiers.org/hgnc/2200 MONDO:0043985 "Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features." "NCIT:C116919 EFO:1001453 MESH:D020945" @@ -1229,22 +1229,22 @@ http://identifiers.org/hgnc/1268 MONDO:0015822 "An instance of neutropenia that is acquired during the lifetime of the individual." "Orphanet:178996" MONDO:0000006 GO:0065007 "Any process that modulates a measurable attribute of any biological process, quality or function." -MONDO:0012639 "A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2." "ICD10:G11.4 Orphanet:209951 OMIM:611225 DOID:0110771 SCTID:732932004 MESH:C567628 GARD:0004922" +MONDO:0012639 "A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2." "Orphanet:209951 OMIM:611225 ICD10CM:G11.4 DOID:0110771 SCTID:732932004 MESH:C567628 GARD:0004922" CL:2000052 "Any endothelial cell of artery that is part of a umbilical cord." MONDO:0010940 "OMIM:600807" -MONDO:0009393 "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction." "MESH:C538380 Orphanet:415 ICD10:E72.4 NCIT:C129029 DOID:0050720 GARD:0002830 SCTID:30287008 UMLS:C0268540 OMIM:238970" -MONDO:0001203 "DOID:11134 ICD9:375.16 SCTID:84777002 ICD10:H04.16 UMLS:C0155231" +MONDO:0009393 "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction." "OMIM:238970 ICD10CM:E72.4 UMLS:C0268540 Orphanet:415 DOID:0050720 MESH:C538380 SCTID:30287008 NCIT:C129029 GARD:0002830" +MONDO:0001203 "DOID:11134 ICD9:375.16 SCTID:84777002 UMLS:C0155231" MONDO:0010944 "OMIM:600851" http://identifiers.org/hgnc/2203 MONDO:0011042 "UMLS:CN199270 OMIM:601346 UMLS:C1832443 Orphanet:137862" GO:0044458 "The aggregation, arrangement and bonding together of a set of components to form a motile cilium." -MONDO:0001469 "ICD10:K31.2 UMLS:C0267183 SCTID:54051005 ICD9:537.6 DOID:12234" +MONDO:0001469 "UMLS:C0267183 SCTID:54051005 ICD9:537.6 DOID:12234" NCBITaxon:523103 "GC_ID:1" MONDO:0029137 "OMIM:618140" HP:0033259 "A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown." -MONDO:0013529 "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene." "Orphanet:3286 UMLS:C3151463 DOID:0060677 ICD10:I47.2 OMIM:614021" +MONDO:0013529 "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene." "Orphanet:3286 UMLS:C3151463 DOID:0060677 OMIM:614021" MONDO:0010932 "Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression." "GARD:0010123 UMLS:C1833321 OMIM:600790 SCTID:719266007 Orphanet:75373 MESH:C535356" -MONDO:0016350 "Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978." "Orphanet:2186 ICD10:Q87.8" +MONDO:0016350 "Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978." "Orphanet:2186 ICD10CM:Q87.8" UBERON:0018321 ENVO:09000019 "The concentration of a chloride when measured in water." GO:0070003 "Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a mechanism in which the hydroxyl group of a threonine residue at the active center acts as a nucleophile." @@ -1260,30 +1260,30 @@ NCBITaxon:10066 "PMID:15371245 GC_ID:1" UBERON:0008989 GO:0060406 "Any process that increases the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow." http://identifiers.org/hgnc/592 -MONDO:0013589 "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene." "Orphanet:656 UMLS:C3279905 ICD10:N04.1 OMIM:614131 DOID:0111131" +MONDO:0013589 "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene." "Orphanet:656 UMLS:C3279905 OMIM:614131 DOID:0111131" CL:0000808 "A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive." -MONDO:0001202 "ICD9:599.89 UMLS:C1443972 ICD10:N42.83 SCTID:409658007 DOID:11133 ICD9:600.3" +MONDO:0001202 "ICD9:599.89 UMLS:C1443972 SCTID:409658007 DOID:11133 ICD10CM:N42.83 ICD9:600.3" http://identifiers.org/hgnc/2468 -MONDO:0006530 "A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures." "DOID:869 EFO:1000675 ICD9:385.30 ICD10:H71.90 NCIT:C2944 GARD:0010422 HP:0009797 UMLS:C0008373 ICD10:H71.9 SCTID:363668000 MESH:D002781" -MONDO:0013525 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene." "ICD10:Q34.8 UMLS:C3151460 DOID:0110613 OMIM:614017" -MONDO:0012375 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3." "ICD10:H90.3 MESH:C566498 UMLS:C1864964 GARD:0009935 OMIM:609946 DOID:0110504" -MONDO:0001468 "ICD9:727.9 ICD10:M67.5 ICD9:727.83 DOID:12225 UMLS:C0410485 SCTID:240171001" +MONDO:0006530 "A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures." "EFO:1000675 MESH:D002781 ICD9:385.30 NCIT:C2944 GARD:0010422 HP:0009797 UMLS:C0008373 SCTID:363668000 DOID:869" +MONDO:0013525 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene." "UMLS:C3151460 DOID:0110613 OMIM:614017" +MONDO:0012375 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3." "MESH:C566498 UMLS:C1864964 GARD:0009935 OMIM:609946 DOID:0110504" +MONDO:0001468 "ICD9:727.9 ICD9:727.83 DOID:12225 UMLS:C0410485 SCTID:240171001" http://identifiers.org/hgnc/2202 -MONDO:0012504 "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." "GARD:0010012 DOID:0111160 Orphanet:85164 UMLS:C1864852 ICD10:Q87.2 OMIM:610474 MESH:C537975" +MONDO:0012504 "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth." "GARD:0010012 ICD10CM:Q87.2 DOID:0111160 Orphanet:85164 UMLS:C1864852 OMIM:610474 MESH:C537975" MONDO:0029138 "OMIM:618141" MONDO:0056820 "A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "UMLS:C1334925 NCIT:C7336" MONDO:0018715 "A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH)." "SCTID:32361000119104 UMLS:C0235753 NCIT:C3841 Orphanet:458775" -MONDO:0010013 "Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia." "ICD10:Q77.7 MESH:C536637 Orphanet:3144 OMIM:269250 UMLS:C0432194 SCTID:254049009 GARD:0000169 DOID:0050775 ICD9:756.9" +MONDO:0010013 "Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia." "MESH:C536637 Orphanet:3144 OMIM:269250 ICD10CM:Q77.7 UMLS:C0432194 SCTID:254049009 GARD:0000169 DOID:0050775 ICD9:756.9" MONDO:0000667 "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal." "DOID:0060137" -MONDO:0018393 "Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal." "OMIM:258150 OMIM:613957 OMIM:615841 OMIM:270960 ICD10:N46 OMIM:615081 OMIM:616950 OMIM:305700 OMIM:615842 Orphanet:399805 OMIM:309120 UMLS:CN225947 OMIM:615413 OMIM:108420" -MONDO:0010997 "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." "OMIM:601104 Orphanet:240071 Orphanet:683 OMIM:610898 OMIM:609454 ICD10:G23.1 UMLS:C0038868 UMLS:CN201679" +MONDO:0018393 "Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal." "OMIM:258150 OMIM:613957 OMIM:615841 OMIM:270960 ICD10CM:N46 OMIM:615081 OMIM:616950 OMIM:305700 OMIM:615842 Orphanet:399805 OMIM:309120 UMLS:CN225947 OMIM:615413 OMIM:108420" +MONDO:0010997 "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." "OMIM:601104 Orphanet:240071 Orphanet:683 OMIM:610898 ICD10CM:G23.1 OMIM:609454 UMLS:C0038868 UMLS:CN201679" http://identifiers.org/hgnc/3401 -MONDO:0013782 "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene." "Orphanet:757 UMLS:C3469606 ICD10:I15.1 OMIM:614496 Orphanet:300530" +MONDO:0013782 "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene." "Orphanet:757 ICD10CM:I15.1 UMLS:C3469606 OMIM:614496 Orphanet:300530" GO:0043504 "The process of restoring mitochondrial DNA after damage." NCBITaxon:11266 "GC_ID:1" -MONDO:0007560 "Orphanet:166433 ICD10:G40.8 OMIM:132300 UMLS:C0278193" +MONDO:0007560 "Orphanet:166433 OMIM:132300 UMLS:C0278193 ICD10CM:G40.8" GO:0007622 "The specific behavior of an organism that recur with measured regularity." -MONDO:0019383 "Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system." "ICD9:136.9 DOID:639 SCTID:83942000 MESH:D004673 NCIT:C34578 Orphanet:83597 UMLS:C0014059 EFO:0007130 GARD:0008639 ICD10:G04.0" +MONDO:0019383 "Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system." "ICD9:136.9 DOID:639 SCTID:83942000 MESH:D004673 ICD10CM:G04.0 NCIT:C34578 Orphanet:83597 UMLS:C0014059 EFO:0007130 GARD:0008639" MONDO:0010344 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene." "MESH:C564503 OMIM:300498 UMLS:C1845333" MONDO:0010942 http://identifiers.org/hgnc/2205 @@ -1291,28 +1291,27 @@ http://identifiers.org/hgnc/28337 MONDO:0011044 "OMIM:601348 UMLS:C1832441 MESH:C563344" UBERON:0005129 MONDO:0001467 "DOID:12223 UMLS:C0158332 SCTID:42812006 ICD9:727.2" -MONDO:0001201 -MONDO:0002875 "Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods." "DOID:4110 UMLS:C0013578 MESH:D004478" +MONDO:0002875 "Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods." "ICD10CM:B85-B89 DOID:4110 UMLS:C0013578 MESH:D004478" MONDO:0015031 "Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization." "SCTID:768926005 Orphanet:100002 UMLS:CN197321" MONDO:0013829 "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene." "Orphanet:178338 UMLS:C3553298 OMIM:614621" MONDO:0013012 "An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3" "MESH:C567559 DOID:0110902 OMIM:612796 UMLS:C2748550" GO:0090596 "Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions." http://identifiers.org/hgnc/3668 http://identifiers.org/hgnc/3402 -MONDO:0009769 "Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities." "MESH:C564935 SCTID:722055008 ICD10:Q87.1 UMLS:C1850338 Orphanet:2714 OMIM:257910" +MONDO:0009769 "Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities." "MESH:C564935 SCTID:722055008 ICD10CM:Q87.1 UMLS:C1850338 Orphanet:2714 OMIM:257910" http://identifiers.org/hgnc/19957 MONDO:0000003 -MONDO:0000716 "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell." "ICD10:R48.8 DOID:0060223" +MONDO:0000716 "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell." "DOID:0060223" MONDO:0000269 CHR:9606-chr3q23 MONDO:0011171 "Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait." "SCTID:722063009 Orphanet:69082 UMLS:C1865998 OMIM:601957 MESH:C566598" MONDO:0042451 "An inflammation of the endometrium and the myometrium." "SCTID:88027004" -MONDO:0005638 "A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes." "MESH:D000377 MESH:D001072 ICD10:R48.1 SCTID:68345001 GARD:0000008 NCIT:C84542 EFO:0007136 DOID:4090 ICD10:R48.2" +MONDO:0005638 "A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes." "MESH:D000377 MESH:D001072 ICD10CM:R48.2 SCTID:68345001 GARD:0000008 NCIT:C84542 EFO:0007136 ICD10CM:R48.1 DOID:4090" MONDO:0011043 "UMLS:C1832442 MESH:C563345 OMIM:601347" http://identifiers.org/hgnc/4867 -MONDO:0001466 "UMLS:C0259799 SCTID:416069001 ICD9:370.21 ICD10:H16.14 DOID:12197" +MONDO:0001466 "UMLS:C0259799 SCTID:416069001 ICD9:370.21 DOID:12197" http://identifiers.org/hgnc/2204 -MONDO:0017185 "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism)." "ICD10:E16.1 UMLS:C4274081 OMIM:601820 SCTID:717045004 UMLS:CN202626 Orphanet:276580" +MONDO:0017185 "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism)." "ICD10CM:E16.1 UMLS:C4274081 OMIM:601820 SCTID:717045004 UMLS:CN202626 Orphanet:276580" MONDO:0003658 "A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma." "ICDO:9596/3 GARD:0010897 DOID:5822 NCIT:C37869 UMLS:C1333878" GO:0007154 "Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment." MONDO:0008189 "A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis." "OMIM:167950 SCTID:237467005 GARD:0010174 MESH:C537167 NCIT:C4383 UMLS:C1868647" @@ -1322,53 +1321,53 @@ MONDO:0000002 MONDO:0012242 "MESH:C536849 OMIM:609289 UMLS:C1836438 GARD:0009502" MONDO:0004245 "A tumor arising from the ependymal lining of the ventricles." "DOID:7497 UMLS:C0238029 SCTID:254939008 NCIT:C3861" MONDO:0000268 -MONDO:0009659 "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits." "Orphanet:309297 SCTID:7259005 NCIT:C84901 ICD10:E76.2 Orphanet:582 GARD:0003785 DOID:0111391 OMIM:253000" -MONDO:0009735 "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations." "SCTID:312514006 ICD10:Q80.8 SCTID:54336006 NCIT:C84922 DOID:0050474 MESH:D056770 MedDRA:10062909 Orphanet:634 GARD:0007182 OMIM:256500" -MONDO:0019618 "An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset." "ICD10:E23.0 Orphanet:91355 NCIT:C35300 MedDRA:10036297 UMLS:C0242342 GARD:0007630 DOID:9476 SCTID:290653008" -MONDO:0009919 "Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." "GARD:0004543 OMIM:264470 SCTID:238069004 Orphanet:2971 UMLS:C1849678 MESH:C536662 DOID:0050797 ICD9:255.41 ICD10:E71.3" +MONDO:0009659 "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits." "Orphanet:582 DOID:0111391 SCTID:7259005 OMIM:253000 ICD10CM:E76.2 NCIT:C84901 GARD:0003785 Orphanet:309297" +MONDO:0009735 "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations." "SCTID:312514006 SCTID:54336006 NCIT:C84922 DOID:0050474 MESH:D056770 MedDRA:10062909 Orphanet:634 GARD:0007182 ICD10CM:Q80.8 OMIM:256500" +MONDO:0019618 "An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset." "Orphanet:91355 NCIT:C35300 MedDRA:10036297 UMLS:C0242342 GARD:0007630 DOID:9476 ICD10CM:E23.0 SCTID:290653008" +MONDO:0009919 "Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." "GARD:0004543 OMIM:264470 SCTID:238069004 Orphanet:2971 ICD10CM:E71.3 UMLS:C1849678 MESH:C536662 DOID:0050797 ICD9:255.41" CL:0000347 "A cell of the sclera of the eye." MONDO:0015001 "Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene." "OMIM:617280 UMLS:C4310636" MONDO:0018744 "Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas)." "Orphanet:46484 UMLS:CN205116 UMLS:C1335110 NCIT:C6960" CHEBI:36357 "Any molecular entity consisting of more than one atom." -MONDO:0001465 "ICD9:370.20 UMLS:C0155074 SCTID:27019000 DOID:12196 ICD10:H16.10" +MONDO:0001465 "ICD9:370.20 UMLS:C0155074 SCTID:27019000 DOID:12196" http://identifiers.org/hgnc/4868 MONDO:0024813 "A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor." "NCIT:C27710" GO:0016321 "The cell cycle process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets during the meiotic cell cycle in a female." -MONDO:0016469 "Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." "UMLS:CN201458 Orphanet:230845 ICD10:Q79.6 SCTID:720862007" -MONDO:0030602 "An pneumonia caused by infection with Klebsiella." "UMLS:C0519030 ICD10:J15.0 ICD9:482.0 DOID:13272 SCTID:64479007" +MONDO:0016469 "Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." "UMLS:CN201458 ICD10CM:Q79.6 Orphanet:230845 SCTID:720862007" +MONDO:0030602 "An pneumonia caused by infection with Klebsiella." "UMLS:C0519030 ICD9:482.0 ICD10CM:J15.0 DOID:13272 SCTID:64479007" CL:0002004 "A proerythoblast that is CD34-negative and GlyA-negative." HP:0000364 "An abnormality of the sensory perception of sound." "UMLS:C4025860" GO:1904539 "Any process that stops, prevents or reduces the frequency, rate or extent of glycolytic process through fructose-6-phosphate." MONDO:0011461 "Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene." "OMIM:604403 Orphanet:36387 MESH:C565810 UMLS:C1858673 DOID:0111294" -MONDO:0008925 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene." "MESH:C538286 DOID:0110243 Orphanet:91492 GARD:0001150 Orphanet:98987 OMIM:212500 ICD10:Q12.0" +MONDO:0008925 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene." "MESH:C538286 DOID:0110243 Orphanet:91492 GARD:0001150 Orphanet:98987 OMIM:212500" GO:0098542 "Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism." MONDO:0001052 "Chronic form of otomycosis." "UMLS:C0155396 ICD9:380.15 SCTID:111898002 DOID:10519" MONDO:0100034 "Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system." -MONDO:0019489 "Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant." "ICD10:Q82.8 UMLS:CN206272 Orphanet:86918" +MONDO:0019489 "Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant." "ICD10CM:Q82.8 UMLS:CN206272 Orphanet:86918" MONDO:0023073 "Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications." "SCTID:445918001 UMLS:C0742965 GARD:0006347 ICD9:595.89 GARD:0006346" MONDO:0012243 "MESH:C563745 UMLS:C1836437 OMIM:609296" -MONDO:0006938 "Inflammation of the renal pelvis." "UMLS:C0034183 DOID:2744 MedDRA:10037584 SCTID:27174002 ICD10:N12 EFO:1001140 MESH:D011702 NCIT:C34964" +MONDO:0006938 "Inflammation of the renal pelvis." "UMLS:C0034183 DOID:2744 MedDRA:10037584 SCTID:27174002 EFO:1001140 MESH:D011702 NCIT:C34964" GO:0051128 "Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope." MONDO:0000267 GO:0008285 "Any process that stops, prevents or reduces the rate or extent of cell proliferation." MONDO:0003214 "A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course." "UMLS:C0334346 GARD:0012138 ICDO:8401/3 NCIT:C4169 UMLS:C1706827 DOID:4933" -MONDO:0002182 "A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing." "ICD9:307.9 MESH:D003147 DOID:2033 ICD10:F80.9 SCTID:278919001 NCIT:C2958" -MONDO:0007725 "Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis." "ICD10:D76.3 MESH:C564186 OMIM:142630 UMLS:C1840586 Orphanet:158025" +MONDO:0002182 "A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing." "ICD9:307.9 MESH:D003147 DOID:2033 SCTID:278919001 NCIT:C2958" +MONDO:0007725 "Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis." "MESH:C564186 OMIM:142630 ICD10CM:D76.3 UMLS:C1840586 Orphanet:158025" HP:0011004 "An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries." "UMLS:C4021205 Fyler:2600 UMLS:C0151489 SNOMEDCT_US:234119001" UBERON:0014887 GO:0009416 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light." -MONDO:0018881 "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)" "NCIT:C3247 ICD9:238.7 EFO:0000198 MedDRA:10028532 Orphanet:52688 GARD:0007132 OMIM:614286 SCTID:109995007 UMLS:C0033027 DOID:0050908 UMLS:C3463824 ICDO:9989/3 ONCOTREE:MDS ICD9:238.75" +MONDO:0018881 "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)" "NCIT:C3247 ICD9:238.7 EFO:0000198 MedDRA:10028532 Orphanet:52688 GARD:0007132 OMIM:614286 SCTID:109995007 UMLS:C0033027 DOID:0050908 UMLS:C3463824 ICDO:9989/3 ONCOTREE:MDS ICD10CM:D37-D48 ICD9:238.75" MONDO:0002662 UBERON:0014621 MONDO:0004969 "Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM." "EFO:0000225" MONDO:0013649 "A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3." "UMLS:C3280252 Orphanet:55654 OMIM:614237 DOID:0110706" CHEBI:28868 "The conjugate base of a fatty acid, arising from deprotonation of the carboxylic acid group of the corresponding fatty acid." -MONDO:0018489 "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported." "SCTID:765751002 ICD10:G04.8 UMLS:CN237490 Orphanet:420789" +MONDO:0018489 "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported." "ICD10CM:G04.8 SCTID:765751002 UMLS:CN237490 Orphanet:420789" http://identifiers.org/hgnc/2208 http://identifiers.org/hgnc/2206 MONDO:0013853 "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene." "DOID:0060266 UMLS:C3553449 OMIM:614678 Orphanet:2254" MONDO:0018774 "A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis." "Orphanet:476096 UMLS:CN776912" -MONDO:0013320 "16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." "UMLS:C3150858 OMIM:613604 UMLS:C4304597 DOID:0060400 ICD10:Q93.5 SCTID:719576009 Orphanet:261211" +MONDO:0013320 "16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." "UMLS:C3150858 ICD10CM:Q93.5 OMIM:613604 UMLS:C4304597 DOID:0060400 SCTID:719576009 Orphanet:261211" UBERON:0013689 GO:0060285 "Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole." MONDO:0042963 "A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly." "MEDGEN:75782 MESH:D050805 GARD:0000328 NCIT:C85224 SCTID:191384005 UMLS:C0272414" @@ -1377,7 +1376,7 @@ MONDO:0005023 "A carcinoma entirely confined to the mammary ducts. It is also kn UBERON:0010090 MONDO:0002663 MONDO:0100291 "T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation." "NCIT:C130043 UMLS:C4329780" -MONDO:0001596 "A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis." "ICD10:F45.21 DOID:12883 ICD10:F45.2 SCTID:18193002 ICD9:300.7 NCIT:C9493 MESH:D006998" +MONDO:0001596 "A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis." "DOID:12883 SCTID:18193002 ICD9:300.7 NCIT:C9493 MESH:D006998" MONDO:0027353 "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33." "DOID:0070021 OMIM:613989" NCBITaxon:35237 MONDO:0025102 "Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases)." "MESH:D008992" @@ -1388,25 +1387,25 @@ MONDO:0044991 "A disease or disorder that involves the upper digestive tract." " HP:0001324 "Reduced strength of muscles." "UMLS:C0151786 SNOMEDCT_US:26544005 MSH:D018908" MONDO:0020803 "OBSOLETE. A defect of the bundle branches or fascicles in the electrical conduction system of the heart." "SCTID:6374002" GO:0010639 "Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle." -MONDO:0001008 "The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)" "ICD10:H02.52 ICD9:374.46 DOID:10348 MESH:D016569 GARD:0005932 HP:0000581" +MONDO:0001008 "The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)" "ICD9:374.46 DOID:10348 MESH:D016569 GARD:0005932 HP:0000581" UBERON:0007302 CL:1000322 "A goblet cell that is part of the epithelium of pancreatic duct." "FMA:263058" -MONDO:0006572 "A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus." "SCTID:4776004 ICD10:L43 NCIT:C3189 DOID:9201 MESH:D008010 ICD10:L43.9 EFO:1000726 UMLS:C0023646 ICD9:697.0" +MONDO:0006572 "A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus." "SCTID:4776004 NCIT:C3189 DOID:9201 ICD10CM:L43 MESH:D008010 EFO:1000726 UMLS:C0023646 ICD9:697.0" MONDO:0007223 "Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene." "MESH:C566194 Orphanet:93387 DOID:0110972 OMIM:113300" -MONDO:0015614 "Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance." "NCIT:C26742 Orphanet:1656 MESH:D003874 OMIM:601230 SCTID:111196000 ICD10:L13.0 EFO:1000684 UMLS:C0011608 MedDRA:10012468 DOID:8505 ICD9:694.0 Wikipedia:Dermatitis_herpetiformis" -MONDO:0018981 "A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable." "Orphanet:64545 ICD10:G40.4 UMLS:CN205419" +MONDO:0015614 "Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance." "NCIT:C26742 Orphanet:1656 MESH:D003874 OMIM:601230 SCTID:111196000 ICD10CM:L13.0 EFO:1000684 UMLS:C0011608 MedDRA:10012468 DOID:8505 ICD9:694.0 Wikipedia:Dermatitis_herpetiformis" +MONDO:0018981 "A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable." "Orphanet:64545 ICD10CM:G40.4 UMLS:CN205419" MONDO:0010150 "A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." "MESH:C535575 DOID:5520 MedDRA:10060121 Orphanet:67037 NCIT:C34447 OMIM:275355 UMLS:C1168401 SCTID:716659002 ONCOTREE:HNSC EFO:0000181" MONDO:0004292 "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx." "UMLS:C0280331 NCIT:C8191 DOID:7586" MONDO:0006669 "Endocarditis that is caused by an infection with a bacterial agent." "UMLS:C0014121 MedDRA:10004019 HP:0006689 SCTID:301183007 EFO:1000830 NCIT:C128359 MESH:D004697" UBERON:0004809 -MONDO:0019198 "Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye." "MESH:D009879 MedDRA:10042742 ICD10:H44.13 UMLS:C0029077 DOID:12029 SCTID:75315001 EFO:1001205 Orphanet:79098 ICD10:H44.1 ICD9:360.11" +MONDO:0019198 "Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye." "MESH:D009879 MedDRA:10042742 ICD10CM:H44.1 UMLS:C0029077 DOID:12029 SCTID:75315001 EFO:1001205 Orphanet:79098 ICD9:360.11" MONDO:0006331 -MONDO:0022513 "Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases." "ICD10:L90.3 SCTID:711524008 GARD:0005866" +MONDO:0022513 "Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases." "ICD10CM:L90.3 SCTID:711524008 GARD:0005866" UBERON:0010091 MONDO:0005042 "A disease involving the head." "UMLS:C1290856 SCTID:118934005 EFO:0000524" -MONDO:0010170 "Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene." "ICD10:H35.5 DOID:0110841 Orphanet:231183 Orphanet:886 UMLS:C1568248 OMIM:276902" -MONDO:0015564 "Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms." "NCIT:C3056 MedDRA:10050251 ICD10:D47.Z2 GARD:0012656 DOID:0111157 UMLS:CN199886 ICD10:D47.4 UMLS:C2931179 Orphanet:160 GARD:0000673 EFO:1001332 SCTID:207036003 UMLS:C0017531 OMIM:148000" -MONDO:0018380 "ICD10:M87.0 Orphanet:399307" +MONDO:0010170 "Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene." "DOID:0110841 Orphanet:231183 Orphanet:886 UMLS:C1568248 OMIM:276902" +MONDO:0015564 "Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms." "NCIT:C3056 MedDRA:10050251 GARD:0012656 DOID:0111157 UMLS:CN199886 UMLS:C2931179 Orphanet:160 GARD:0000673 EFO:1001332 ICD10CM:D47.4 SCTID:207036003 ICD10CM:D47.Z2 UMLS:C0017531 OMIM:148000" +MONDO:0018380 "Orphanet:399307" MONDO:0013024 "Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure." "SCTID:233947005 GARD:0013124 Orphanet:70591 MedDRA:10068739 OMIM:612862 ICD9:415.19 UMLS:C2363973 ICD9:416.8" MONDO:0013518 "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene." "OMIM:613986 Orphanet:95494 UMLS:C3151440" GO:0003995 "Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor." @@ -1430,16 +1429,16 @@ MONDO:0003575 "A high grade carcinoma characterized by the presence of comedo-ty MONDO:0100448 "A retinopathy caused by biallelic variants in the RAB28 gene." GO:0003027 "The process that modulates blood pressure by the action of chemoreceptors found in the carotid bodies and their resultant modulation of the vasomotor center. Chemoreceptors respond to oxygen, carbon dioxide and hydrogen ions." http://identifiers.org/hgnc/18758 -MONDO:0009657 "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." "Orphanet:79271 OMIM:252930 Orphanet:581 NCIT:C84899 SCTID:75238000 ICD10:E76.2 UMLS:C0086649 DOID:0111393 GARD:0007073" +MONDO:0009657 "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." "NCIT:C84899 UMLS:C0086649 SCTID:75238000 ICD10CM:E76.2 GARD:0007073 OMIM:252930 DOID:0111393 Orphanet:581 Orphanet:79271" UBERON:0007300 -MONDO:0020348 "Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-BarrC) syndrome (GBS)." "NCIT:C116927 ICD10:G61.0 Orphanet:98917 UMLS:CN207195 SCTID:716722005" +MONDO:0020348 "Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-BarrC) syndrome (GBS)." "NCIT:C116927 ICD10CM:G61.0 Orphanet:98917 UMLS:CN207195 SCTID:716722005" http://identifiers.org/hgnc/24624 MONDO:0007531 "OMIM:130300" http://identifiers.org/hgnc/4892 http://identifiers.org/hgnc/7132 GO:1905821 "Any process that activates or increases the frequency, rate or extent of chromosome condensation." MONDO:0008990 "GARD:0004015 OMIM:215800 Orphanet:2004 Orphanet:93940 Orphanet:2005" -MONDO:0017180 "Orphanet:276422 ICD10:Q92.3 UMLS:CN202619" +MONDO:0017180 "Orphanet:276422 UMLS:CN202619" GO:0051924 "Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." MONDO:0001739 "A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma." "SCTID:24817009 UMLS:C0155506 ICD9:386.33 DOID:13534" MONDO:0018201 "A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum)." "UMLS:CN204711 Orphanet:363579 UMLS:C0262963 NCIT:C3918 GARD:0009325" @@ -1456,15 +1455,15 @@ MONDO:0008596 "An autosomal dominant malformation syndrome caused by mutations i http://identifiers.org/hgnc/4893 UBERON:0013697 http://identifiers.org/hgnc/2230 -MONDO:0007660 "An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome." "UMLS:CN237560 Orphanet:435329 MESH:C563017 ICD10:D16.4 OMIM:137575 GARD:0010887" +MONDO:0007660 "An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome." "UMLS:CN237560 Orphanet:435329 ICD10CM:D16.4 MESH:C563017 OMIM:137575 GARD:0010887" GO:0005911 "A cell junction that forms a connection between two or more cells in a multicellular organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects." MONDO:0026404 "OMIM:300087" UBERON:0032748 MONDO:0060496 "OMIM:617519 UMLS:C4479603" -MONDO:0001795 "A wart in the plantar surface of the foot. It is caused by human papillomavirus." "SCTID:63440008 ICD9:078.12 DOID:13775 ICD10:B07.0 EFO:1002023 UMLS:C0042548 NCIT:C26913" +MONDO:0001795 "A wart in the plantar surface of the foot. It is caused by human papillomavirus." "ICD10CM:B07.0 SCTID:63440008 ICD9:078.12 DOID:13775 EFO:1002023 UMLS:C0042548 NCIT:C26913" MONDO:0002936 "A scrotal carcinoma that involves the basal cell." "DOID:4278 NCIT:C6386 UMLS:C1335934" MONDO:0006334 -MONDO:0016587 "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death." "GARD:0005847 ICD9:425.4 Orphanet:247 UMLS:C0349788 OMIM:604401 Orphanet:217656 ICD10:I42.8 DOID:0050431 SCTID:281170005 MedDRA:10058093 UMLS:CN239850 MESH:D019571 NCIT:C84571 UMLS:CN221565" +MONDO:0016587 "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death." "ICD10CM:I42.8 GARD:0005847 ICD9:425.4 Orphanet:247 UMLS:C0349788 OMIM:604401 Orphanet:217656 DOID:0050431 SCTID:281170005 MedDRA:10058093 UMLS:CN239850 MESH:D019571 NCIT:C84571 UMLS:CN221565" GO:0030431 "Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain." MONDO:0003838 MONDO:0014724 "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene." "DOID:0110993 OMIM:616654 UMLS:C4084841" @@ -1478,25 +1477,25 @@ GO:0051249 "Any process that modulates the frequency, rate or extent of lymphocy UBERON:0013696 MONDO:0005551 "An allergic disease involving a pathogenic inflammatory response in the camera-type eye." "EFO:0005751" UBERON:0007306 -MONDO:0018065 "Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture." "ICD10:Q75.0 OMIM:614485 UMLS:CN239481 OMIMPS:190440 OMIM:190440 Orphanet:3366 UMLS:CN236409" -MONDO:0021005 "A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome." "OMIM:305400 OMIM:100050 MedDRA:10067148 ICD10:Q87.1" +MONDO:0018065 "Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture." "OMIM:614485 ICD10CM:Q75.0 UMLS:CN239481 OMIMPS:190440 OMIM:190440 Orphanet:3366 UMLS:CN236409" +MONDO:0021005 "A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome." "OMIM:305400 OMIM:100050 MedDRA:10067148 ICD10CM:Q87.1" UBERON:0004805 MONDO:0100160 "An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae." GO:0046146 "The chemical reactions and pathways involving tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine." GO:1904362 "Any process that modulates the frequency, rate or extent of calcitonin secretion." -MONDO:0009288 "A type of glycogenosis due to G6P deficiency." "SCTID:237965005 MESH:C562594 GARD:0002515 UMLS:C0342749 OMIM:232240 OMIM:232220 ICD10:E74.0 SCTID:30102006 Orphanet:79259 NCIT:C122661 Orphanet:364" +MONDO:0009288 "A type of glycogenosis due to G6P deficiency." "SCTID:237965005 MESH:C562594 GARD:0002515 UMLS:C0342749 OMIM:232240 OMIM:232220 SCTID:30102006 Orphanet:79259 ICD10CM:E74.0 NCIT:C122661 Orphanet:364" MONDO:0060491 "OMIM:617493" GO:0034440 "The removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen." -MONDO:0007416 "A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease." "SCTID:26121002 ICD10:N15.0 NCIT:C123025 UMLS:C4049993 GARD:0008576 DOID:3052 ICD9:583.89 EFO:0007164 MESH:D001449 NCIT:C84584 OMIM:124100 UMLS:C0004698" +MONDO:0007416 "A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease." "SCTID:26121002 ICD10CM:N15.0 NCIT:C123025 UMLS:C4049993 GARD:0008576 DOID:3052 ICD9:583.89 EFO:0007164 MESH:D001449 NCIT:C84584 OMIM:124100 UMLS:C0004698" http://identifiers.org/hgnc/3430 MONDO:0008025 "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene." "MESH:C563561 OMIM:158590 DOID:0111208 Orphanet:139525 UMLS:C1834692" FOODON:03414466 "Tunicates, previously known as *Urochordata* or urochordates, are members of the *Tunicata*, a subphylum of the phylum *Chordata*. They are marine filter feeders with a saclike morphology. In their respiration and feeding they take in water through an incurrent (or inhalant) siphon and expel the filtered water through an excurrent (or exhalant) siphon. Most adult tunicates are sessile and attached to rocks or similarly suitable surfaces on the ocean floor; others such as salps, doliolids and pyrosomes swim in the pelagic zone as adults. Various species are commonly known as sea squirts or sea pork."@en UBERON:0012498 -MONDO:0011436 "Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features." "ICD9:335.19 DOID:0111064 Orphanet:98920 UMLS:C1858517 OMIM:604320 MESH:C536880 ICD10:G12.2 GARD:0008592 SCTID:711483003" +MONDO:0011436 "Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features." "ICD9:335.19 DOID:0111064 Orphanet:98920 UMLS:C1858517 OMIM:604320 ICD10CM:G12.2 MESH:C536880 GARD:0008592 SCTID:711483003" UBERON:0003608 -MONDO:0016982 "A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." "UMLS:C0018923 ICDO:9120/3 DOID:0001816 MESH:D006394 ONCOTREE:ANGS SCTID:403977003 EFO:0003967 NCIT:C3088 ICD9:171.9 HP:0200058 Orphanet:263413 EFO:0003968 MedDRA:10002476 ICD10:C49.9" -MONDO:0001438 "DOID:12123 SCTID:266368002 ICD10:J84.10 ICD9:515 UMLS:C0175999" -MONDO:0011718 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene." "ICD10:Q34.8 MESH:C535277 Orphanet:244 DOID:0110626 OMIM:606763 UMLS:C1847554" +MONDO:0016982 "A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma." "UMLS:C0018923 ICDO:9120/3 DOID:0001816 MESH:D006394 ONCOTREE:ANGS SCTID:403977003 EFO:0003967 ICD10CM:C49.9 NCIT:C3088 ICD9:171.9 HP:0200058 Orphanet:263413 EFO:0003968 MedDRA:10002476" +MONDO:0001438 "DOID:12123 SCTID:266368002 ICD9:515 UMLS:C0175999" +MONDO:0011718 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene." "MESH:C535277 Orphanet:244 DOID:0110626 OMIM:606763 UMLS:C1847554" CL:0002115 "A B220-positive CD38-positive unswitched memory B cell is a CD38-positive unswitched memory B cell that has the phenotype B220-positive, CD38-positive, IgD-positive, CD138-negative, and IgG-negative." http://identifiers.org/hgnc/2498 NCBITaxon:6692 "GC_ID:1" @@ -1505,28 +1504,28 @@ GO:0045121 "Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- UBERON:0004806 MONDO:0003758 "A germ cell tumor that arises from the testis during childhood." "NCIT:C6552 DOID:6082 UMLS:C0796663" GO:0004252 "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine)." -MONDO:0017153 "OBSOLETE. Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection." "ICD9:416.8 Orphanet:275808 ICD10:I27.2 EFO:0009194 SCTID:697904001 UMLS:C3697673" +MONDO:0017153 "OBSOLETE. Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection." "ICD9:416.8 Orphanet:275808 EFO:0009194 SCTID:697904001 UMLS:C3697673 ICD10CM:I27.2" MONDO:0060490 "OMIM:617481 UMLS:C4479566" http://identifiers.org/hgnc/21024 MONDO:0014670 "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene." "OMIM:616503 UMLS:C4225303" UBERON:0002409 -MONDO:0016289 "A malignant germ cell tumor that involves the uterine cervix." "ICD10:C53.0 UMLS:CN201079 ICD10:C53.1 Orphanet:213837 ICD10:C53.8" +MONDO:0016289 "A malignant germ cell tumor that involves the uterine cervix." "UMLS:CN201079 ICD10CM:C53.1 ICD10CM:C53.0 ICD10CM:C53.8 Orphanet:213837" UBERON:0010096 http://identifiers.org/hgnc/3431 -MONDO:0001439 "ICD10:H15.11 ICD9:379.01 UMLS:C0155351 SCTID:31166000 DOID:12124" +MONDO:0001439 "ICD9:379.01 UMLS:C0155351 SCTID:31166000 DOID:12124" UBERON:0003607 -MONDO:0010870 "Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." "Orphanet:609 DOID:0111078 ICD10:G71.0 OMIM:600334 UMLS:C1450052 UMLS:C1838244 SCTID:698846009" +MONDO:0010870 "Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life." "Orphanet:609 DOID:0111078 ICD10CM:G71.0 OMIM:600334 UMLS:C1450052 UMLS:C1838244 SCTID:698846009" NCBITaxon:33084 "GC_ID:1" -MONDO:0013979 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene." "UMLS:C3543826 DOID:0110608 OMIM:614935 ICD10:Q34.8" -MONDO:0015314 "Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated." "ICD10:D18.1 SCTID:763617006 Orphanet:137926" +MONDO:0013979 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene." "UMLS:C3543826 DOID:0110608 OMIM:614935" +MONDO:0015314 "Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated." "SCTID:763617006 ICD10CM:D18.1 Orphanet:137926" http://identifiers.org/hgnc/2235 UBERON:0007304 UBERON:0035240 UBERON:0013694 -MONDO:0011604 "Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows." "OMIM:605822 Orphanet:85194 SCTID:715653007 ICD10:Q87.5" +MONDO:0011604 "Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows." "OMIM:605822 ICD10CM:Q87.5 Orphanet:85194 SCTID:715653007" MONDO:0021004 "A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms." "HP:0001156 MESH:D059327 DOID:0050581" UBERON:0004807 -MONDO:0015988 "Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional." "SCTID:204962002 ICD9:753.19 MESH:D021782 UMLS:C3714581 NCIT:C123031 ICD10:Q61.4 Orphanet:1851" +MONDO:0015988 "Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional." "SCTID:204962002 ICD9:753.19 MESH:D021782 UMLS:C3714581 NCIT:C123031 ICD10CM:Q61.4 Orphanet:1851" MONDO:0019218 "Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." "Orphanet:79168 GTR:AN0923838 UMLS:CN231736 UMLS:CN544763" MONDO:0004262 "A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts." "UMLS:C1513799 NCIT:C40385 DOID:7521" http://identifiers.org/hgnc/1037 @@ -1534,19 +1533,19 @@ MONDO:0017686 "An acquired metabolic disease that is has its basis in the disrup UBERON:0014891 MONDO:0010082 "Orphanet:3191 GARD:0000405 OMIM:271960 UMLS:C0795947 MESH:C537749" http://identifiers.org/hgnc/3432 -MONDO:0001009 "A single, fluid-filled cyst in the breast parenchyma." "NCIT:C3378 SCTID:266578003 DOID:10349 ICD10:N60.09 ICD10:N60.0 ICD9:610.0" +MONDO:0001009 "A single, fluid-filled cyst in the breast parenchyma." "NCIT:C3378 SCTID:266578003 ICD10CM:N60.0 DOID:10349 ICD9:610.0" MONDO:0002327 "A cavernous hemangioma arising from the brain and meninges." "NCIT:C5432 DOID:2516 SCTID:445513004 UMLS:C1334237" MONDO:0008994 "MESH:C565843 GARD:0010623 OMIM:216330 Orphanet:1452 UMLS:C1859080" MONDO:0015880 "Orphanet:180779 UMLS:CN226770" ECTO:0001082 "An exposure event involving Alcohol Consumption" -MONDO:0016019 "A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia." "NCIT:C125384 ICD9:323.9 UMLS:C2930868 MESH:C535291 ICD10:G04.8 Orphanet:1929 SCTID:230191005 GARD:0007527" +MONDO:0016019 "A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia." "NCIT:C125384 ICD9:323.9 UMLS:C2930868 MESH:C535291 ICD10CM:G04.8 Orphanet:1929 SCTID:230191005 GARD:0007527" ENVO:00005748 "Soil which has little to no water content and in which minerals and other soluble chemical entities have either bonded or become adsorbed to sold particles due to insufficient water availability." -MONDO:0002769 "Whitish or yellowish mucosal vaginal discharge." "ICD10:N89.8 DOID:3766 NCIT:C34775 MESH:D007973" -MONDO:0021697 "Infections with bacteria of the genus CHLAMYDIA." "EFO:1000863 MESH:D023521 MESH:D002690" +MONDO:0002769 "Whitish or yellowish mucosal vaginal discharge." "DOID:3766 NCIT:C34775 MESH:D007973" +MONDO:0021697 "Infections with bacteria of the genus CHLAMYDIA." "ICD10CM:A70-A74 EFO:1000863 MESH:D023521 MESH:D002690" GO:0050667 "The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine." MONDO:0003833 ENVO:01001652 "An aerosol that is suspended in an atmosphere." -MONDO:0011640 "Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency." "SCTID:702367005 ICD9:759.89 ICD10:Q87.8 OMIM:606170 Orphanet:85201 GARD:0010994 UMLS:C1853566 MESH:C565255" +MONDO:0011640 "Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency." "SCTID:702367005 ICD9:759.89 OMIM:606170 Orphanet:85201 ICD10CM:Q87.8 GARD:0010994 UMLS:C1853566 MESH:C565255" http://identifiers.org/hgnc/8592 NCBITaxon:6690 "GC_ID:1" UBERON:0007303 @@ -1561,24 +1560,24 @@ MONDO:0019074 "Bilateral acute depigmentation of the iris (BADI) is characterize http://identifiers.org/hgnc/3433 ECTO:1000007 "A exposure event involving the interaction of an exposure receptor to high temperature environment." UBERON:0003609 -MONDO:0011675 "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards." "DOID:0110202 UMLS:C1847896 MESH:C564702 ICD10:G60.0 OMIM:606483 GARD:0012437 SCTID:765744006 Orphanet:100043" +MONDO:0011675 "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards." "ICD10CM:G60.0 DOID:0110202 UMLS:C1847896 MESH:C564702 OMIM:606483 GARD:0012437 SCTID:765744006 Orphanet:100043" MONDO:0009932 "MESH:C564863 UMLS:C1849566 OMIM:265200" CHEBI:60056 "The conjugate base of cocaine arising from protonation of the tertiary amino group; major species at pH 7.3." MONDO:0018388 "UMLS:CN227336 Orphanet:399685" -MONDO:0100280 "NCIT:C80307 GARD:0007872 ICD10:C88.0 OMIMPS:153600 Orphanet:33226 MedDRA:10047801 ONCOTREE:WM DOID:0060901 MESH:D008258 OMIM:610430 UMLS:C0024419" +MONDO:0100280 "NCIT:C80307 GARD:0007872 OMIMPS:153600 Orphanet:33226 ICD10CM:C88.0 MedDRA:10047801 ONCOTREE:WM DOID:0060901 MESH:D008258 OMIM:610430 UMLS:C0024419" MONDO:0003753 "A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule." "ICD9:478.19 DOID:6059 SCTID:232364006 UMLS:C0339826 NCIT:C4369" -MONDO:0018122 "UMLS:CN204494 ICD10:Q87.2 Orphanet:352487" +MONDO:0018122 "UMLS:CN204494 ICD10CM:Q87.2 Orphanet:352487" UBERON:0001208 PATO:0070002 "A cell morphology that inheres in multipolar neurons with densely branched terminal axonal arborizations that form basket-like structures surrounding and synapsing to the somas of target cells." MONDO:0014879 UBERON:0003869 UBERON:0003603 -MONDO:0011811 "Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances." "UMLS:C1846492 Orphanet:95434 DOID:0111611 OMIM:607317 MESH:C537310 ICD10:G11.1 GARD:0004952" -MONDO:0008963 "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described." "ICD10:E70.3 DOID:2935 ICD10:D72.0 GARD:0006035 UMLS:C0007965 SCTID:111396008 OMIM:214500 MESH:D002609 ICD10:E70.330 MedDRA:10008415 Orphanet:167 NCIT:C2941" +MONDO:0011811 "Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances." "UMLS:C1846492 Orphanet:95434 DOID:0111611 OMIM:607317 ICD10CM:G11.1 MESH:C537310 GARD:0004952" +MONDO:0008963 "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described." "ICD10CM:E70.330 ICD10CM:E70.3 DOID:2935 GARD:0006035 UMLS:C0007965 SCTID:111396008 OMIM:214500 MESH:D002609 MedDRA:10008415 Orphanet:167 NCIT:C2941" MONDO:0014473 "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene." "OMIM:616051 UMLS:C4015080 DOID:0070283 Orphanet:808" http://identifiers.org/hgnc/16353 -MONDO:0001019 "A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications." "DOID:10375 UMLS:C0750903 ICD9:368.01 ICD10:H53.03 SCTID:35600002" -MONDO:0007537 "DOID:0111343 Orphanet:2789 ICD10:Q87.5 UMLS:C1851710 MESH:C537878 OMIM:130720 GARD:0009873" +MONDO:0001019 "A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications." "DOID:10375 UMLS:C0750903 ICD9:368.01 SCTID:35600002" +MONDO:0007537 "DOID:0111343 Orphanet:2789 ICD10CM:Q87.5 UMLS:C1851710 MESH:C537878 OMIM:130720 GARD:0009873" CHR:9606-chr8p11 NCBITaxon:543 "PMID:10555334 GC_ID:11 PMID:27620848 PMID:10555323 PMID:16166704" MONDO:0013415 "GARD:0010996 UMLS:C3151069 OMIM:613776 DOID:0060402" @@ -1591,18 +1590,18 @@ MONDO:0023068 "GARD:0002124" MONDO:0003886 "A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma." "DOID:6468 NCIT:C8979 UMLS:C1377844" MONDO:0100281 "OMIM:153600" GO:0022829 "Enables the transport of a solute across a membrane via a large pore, un-gated channel. Examples include gap junctions, which transport substances from one cell to another; and porins which transport substances in and out of bacteria, mitochondria and chloroplasts." -MONDO:0018389 "Orphanet:399764 ICD10:N46 UMLS:CN227337" +MONDO:0018389 "Orphanet:399764 UMLS:CN227337 ICD10CM:N46" MONDO:0012219 "UMLS:C1836584 OMIM:609223 MESH:C563772" UBERON:0001207 MONDO:0009098 "MESH:C538269 OMIM:221950 UMLS:C1857298 GARD:0000136" -MONDO:0008768 "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene." "GARD:0006845 ICD10:E75.4 Orphanet:79262 OMIM:204300 UMLS:C0022797 Orphanet:228340 DOID:0110730" +MONDO:0008768 "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene." "GARD:0006845 ICD10CM:E75.4 Orphanet:79262 OMIM:204300 UMLS:C0022797 Orphanet:228340 DOID:0110730" UBERON:0011298 MONDO:0024267 -MONDO:0013174 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene." "DOID:0110618 ICD10:Q34.8 MESH:C567713 UMLS:C2750790 OMIM:613193 Orphanet:244" +MONDO:0013174 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene." "DOID:0110618 MESH:C567713 UMLS:C2750790 OMIM:613193 Orphanet:244" MONDO:0100290 "The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon." "NCIT:C96470 UMLS:C3272797" MONDO:0003570 "A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma." "UMLS:C0334318 ICDO:8314/3 NCIT:C4152 DOID:5658" -MONDO:0018360 "A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." "Orphanet:398124 GARD:0009563 NCIT:C99236 SCTID:95609003 MESH:C536397 ICD10:M32.8 EFO:0004537 UMLS:C0409979" -MONDO:0007860 "Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement." "OMIM:148730 MESH:C536157 GARD:0003098 UMLS:C1835650 Orphanet:2200 ICD10:Q82.8 SCTID:764963007" +MONDO:0018360 "A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis." "Orphanet:398124 GARD:0009563 NCIT:C99236 SCTID:95609003 MESH:C536397 EFO:0004537 ICD10CM:M32.8 UMLS:C0409979" +MONDO:0007860 "Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement." "OMIM:148730 ICD10CM:Q82.8 MESH:C536157 GARD:0003098 UMLS:C1835650 Orphanet:2200 SCTID:764963007" NCBITaxon:5498 "GC_ID:1" GO:0031594 "The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential." NBO:0000388 "\"Behavior related to movements that occur independent of planning.\" [NBO:GVG]" @@ -1615,9 +1614,9 @@ MONDO:0004098 "A rare variant of malignant peripheral nerve sheath tumor that ar MONDO:0000384 "A benign abnormal growth of the cells that comprise the bladder." "NCIT:C3618 UMLS:C0154017 DOID:0050623 SCTID:91992005 ICD9:223.3" MONDO:0001229 "A diverticulitis that involves the small intestine." "ICD9:562.02 SCTID:56165008 UMLS:C0156164 ICD9:562.01 DOID:11223" MONDO:0023069 "GARD:0008651 DOID:0050332" -MONDO:0010765 "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." "OMIM:613762 MESH:C567574 OMIM:612965 OMIM:613080 OMIM:607080 UMLS:C0018054 SCTID:95218005 DOID:14448 MESH:C567575 OMIMPS:400044 Orphanet:242 OMIM:300018 UMLS:C2936694 GARD:0005068 OMIM:616067 OMIM:154230 NCIT:C120198 ICD10:Q99.1 OMIM:614279 OMIM:400044 OMIM:616425 MESH:D006061 OMIM:233420" +MONDO:0010765 "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." "OMIM:613762 MESH:C567574 OMIM:612965 OMIM:613080 OMIM:607080 UMLS:C0018054 SCTID:95218005 DOID:14448 MESH:C567575 OMIMPS:400044 Orphanet:242 OMIM:300018 UMLS:C2936694 GARD:0005068 OMIM:616067 OMIM:154230 NCIT:C120198 OMIM:614279 OMIM:400044 OMIM:616425 MESH:D006061 OMIM:233420" ENVO:01000267 "An atmosphere is a layer of gases surrounding a material body of sufficient mass that is held in place by the gravity of the body." -MONDO:0010571 "Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival." "DOID:0111784 MESH:C538089 SCTID:42432003 Orphanet:669 ICD10:Q87.0 Orphanet:90652 ICD9:759.89 GARD:0005802 OMIM:304120" +MONDO:0010571 "Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival." "DOID:0111784 MESH:C538089 SCTID:42432003 Orphanet:669 ICD10CM:Q87.0 Orphanet:90652 ICD9:759.89 GARD:0005802 OMIM:304120" MONDO:0018386 "Orphanet:399572 UMLS:CN227334" MONDO:0100282 "OMIM:269000 Orphanet:3103 DOID:0050536" GO:0050879 "Any physiological process involved in changing the position of a multicellular organism or an anatomical part of a multicellular organism." @@ -1636,8 +1635,8 @@ MONDO:0007539 "GARD:0002117 OMIM:130950 MESH:C536407 Orphanet:2672" MONDO:0008732 "Orphanet:95702 OMIM:202155 UMLS:C1859977" HP:0005132 "Compression of the heart caused by rigid, thickened, or fused pericardial membranes." "UMLS:C0240709" MONDO:0003770 "A meningioma that arises from the meninges of the thoracic region of the spinal cord." "NCIT:C5297 DOID:6103 UMLS:C1336738" -MONDO:0011223 "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene." "GARD:0010502 UMLS:C1865409 DOID:0060196 OMIM:602433 Orphanet:357043 ICD10:G12.2 MESH:C566550" -MONDO:0017188 "ICD10:E16.1 Orphanet:276603 OMIM:601820" +MONDO:0011223 "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene." "GARD:0010502 UMLS:C1865409 ICD10CM:G12.2 DOID:0060196 OMIM:602433 Orphanet:357043 MESH:C566550" +MONDO:0017188 "Orphanet:276603 OMIM:601820 ICD10CM:E16.1" MONDO:0023066 "GARD:0000294" UBERON:0000000 "An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity." UBERON:0002408 @@ -1651,18 +1650,18 @@ ENVO:01000032 "The neritic epipelagic zone biome comprises the marine water colu NCBITaxon:499556 "GC_ID:1" MONDO:0018120 "Orphanet:352312 UMLS:CN227267" MONDO:0018387 "UMLS:CN227335 Orphanet:399584" -MONDO:0019403 "Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA." "MESH:D000742 Orphanet:85 OMIM:615631 UMLS:C0002876 ICD9:285.8 NCIT:C84646 OMIM:613673 GARD:0001999 OMIMPS:224120 OMIM:224120 DOID:1338 OMIM:224100 OMIM:105600 SCTID:52951008 ICD10:D64.4" +MONDO:0019403 "Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA." "MESH:D000742 Orphanet:85 ICD10CM:D64.4 OMIM:615631 UMLS:C0002876 ICD9:285.8 NCIT:C84646 OMIM:613673 GARD:0001999 OMIMPS:224120 OMIM:224120 DOID:1338 OMIM:224100 OMIM:105600 SCTID:52951008" UBERON:0001209 MONDO:0014616 "OMIM:616392" UBERON:0004804 -MONDO:0008542 "Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy." "Orphanet:3303 GARD:0002245 ICD10:Q21.3 MESH:D013771 NCIT:C84505 OMIM:187500 DOID:6419 SCTID:86299006 UMLS:C0039685 ICD9:745.2 MedDRA:10016193" +MONDO:0008542 "Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy." "Orphanet:3303 GARD:0002245 MESH:D013771 NCIT:C84505 OMIM:187500 DOID:6419 SCTID:86299006 UMLS:C0039685 ICD10CM:Q21.3 ICD9:745.2 MedDRA:10016193" MONDO:0021504 -MONDO:0008731 "MESH:C565976 Orphanet:95700 OMIM:202150 UMLS:C1859978 ICD10:E27.1" -MONDO:0015301 "Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis." "SCTID:282834007 Orphanet:137807 MedDRA:10011659 UMLS:C0268397 DOID:0050639 ICD10:E85.4+ MESH:C562642 ICD10:L99.0* GARD:0000132" +MONDO:0008731 "MESH:C565976 ICD10CM:E27.1 Orphanet:95700 OMIM:202150 UMLS:C1859978" +MONDO:0015301 "Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis." "ICD10EXP:L99.0* ICD10EXP:E85.4+ SCTID:282834007 Orphanet:137807 MedDRA:10011659 UMLS:C0268397 DOID:0050639 MESH:C562642 GARD:0000132" MONDO:0023067 "GARD:0010431" MONDO:0008997 MONDO:0014113 "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene." "OMIM:615279 Orphanet:1340 DOID:0111462 UMLS:C3809006" -MONDO:0019320 "Orphanet:79468 ICD10:Q82.5 GARD:0005485 UMLS:CN205975" +MONDO:0019320 "Orphanet:79468 GARD:0005485 ICD10CM:Q82.5 UMLS:CN205975" MONDO:0001068 "A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003" "MESH:D010018 NCIT:C26838 DOID:10573 GARD:0007285 HP:0002749 EFO:1002027 ICD9:268.2 SCTID:4598005" UBERON:0002407 UBERON:0003605 @@ -1671,31 +1670,31 @@ GO:0030334 "Any process that modulates the frequency, rate or extent of cell mig http://identifiers.org/hgnc/21022 ENVO:02000101 "Dust which is composed of fibrous material." NCBITaxon:71274 "PMID:12144762 GC_ID:1" -MONDO:0018874 "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections." "NCIT:C3171 ICD9:205.0 ICD9:205.00 ICDO:9861/3 MESH:D015470 ICD10:C92.00 OMIM:601626 ONCOTREE:AML GARD:0012757 GARD:0000537 Orphanet:519 MedDRA:10000880 UMLS:C0023467 DOID:9119 SCTID:91861009 ICD10:C92.0 EFO:0000222 KEGG:05221" +MONDO:0018874 "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections." "NCIT:C3171 ICD9:205.0 ICD9:205.00 ICDO:9861/3 MESH:D015470 OMIM:601626 ONCOTREE:AML GARD:0012757 GARD:0000537 Orphanet:519 MedDRA:10000880 UMLS:C0023467 DOID:9119 SCTID:91861009 EFO:0000222 KEGG:05221" CHR:9606-chr1p32-p31 MONDO:0007799 "MESH:C564145 OMIM:146350 UMLS:C1840321" -MONDO:0004824 "A fungal infection by any of the Candida species in a newborn infant up to 28 days old." "UMLS:C0276682 ICD10:P37.5 NCIT:C116810 SCTID:414821002 ICD9:771.7 DOID:9577" +MONDO:0004824 "A fungal infection by any of the Candida species in a newborn infant up to 28 days old." "UMLS:C0276682 NCIT:C116810 SCTID:414821002 ICD9:771.7 ICD10CM:P37.5 DOID:9577" MONDO:0021163 "A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma." "SCTID:126880001 ICD9:239.5 NCIT:C3150 ONCOTREE:KIDNEY" ENVO:01001155 "An astrogeological volatile which is composed primarily of chemical compounds with boiling points around those of hydrogen and helium." UBERON:0000006 UBERON:0002401 MONDO:0021834 "A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia." "UMLS:C2930948 MESH:C535609 GARD:0000577" -MONDO:0002974 "A primary or metastatic malignant neoplasm involving the cervix." "SCTID:363354003 DOID:4362 ICD10:C53 NCIT:C9311 ICD9:180 ICD9:180.9 ICD9:180.8 UMLS:C0302592 ICD10:C53.9 OMIM:603956 NCIT:C2940" +MONDO:0002974 "A primary or metastatic malignant neoplasm involving the cervix." "SCTID:363354003 DOID:4362 NCIT:C9311 ICD9:180 ICD9:180.9 ICD9:180.8 UMLS:C0302592 OMIM:603956 NCIT:C2940" GO:0022839 "Enables the transmembrane transfer of a solute by a channel that opens in response to a specific ion stimulus." -MONDO:0015624 "ICD10:E16.1 Orphanet:165985" +MONDO:0015624 "Orphanet:165985 ICD10CM:E16.1" UBERON:0012490 -MONDO:0017862 "Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported." "UMLS:CN227212 Orphanet:31827 ICD10:T60.3" +MONDO:0017862 "Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported." "UMLS:CN227212 Orphanet:31827 ICD10CM:T60.3" UBERON:0000007 -MONDO:0018938 "Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B." "OMIM:252300 ICD10:E76.210 OMIM:253010 NCIT:C84901 GARD:0012562 OMIM:253000 SCTID:378007 UMLS:C0026707 DOID:12804 ICD10:E76.2 MedDRA:10028095 SCTID:7259005 ICD10:E76.219 NCIT:C61263 Orphanet:582" +MONDO:0018938 "Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B." "OMIM:252300 OMIM:253010 NCIT:C84901 GARD:0012562 OMIM:253000 SCTID:378007 UMLS:C0026707 DOID:12804 MedDRA:10028095 SCTID:7259005 NCIT:C61263 Orphanet:582 ICD10CM:E76.2" UBERON:0001469 UBERON:0003864 MONDO:0030706 "An cystitis caused by infection with Trichomonas vaginalis." "SCTID:197850006 ICD9:131.09 UMLS:C0341733 NCIT:C35405" -MONDO:0016066 "Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated." "ICD10:Q76.7 ICD9:756.3 GARD:0005012 UMLS:C2931507 Orphanet:2017 MESH:C537489 SCTID:54008006" -MONDO:0009493 "Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." "OMIM:245100 ICD10:G60.2 UMLS:C0796136 Orphanet:1399 MESH:C535674 SCTID:715415005 GARD:0008423" -MONDO:0018712 "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia." "UMLS:C1304513 SCTID:403984006 UMLS:CN242120 ICD10:D18.0 Orphanet:458758 NCIT:C45475" +MONDO:0016066 "Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated." "ICD9:756.3 GARD:0005012 UMLS:C2931507 Orphanet:2017 MESH:C537489 ICD10CM:Q76.7 SCTID:54008006" +MONDO:0009493 "Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria." "OMIM:245100 UMLS:C0796136 Orphanet:1399 MESH:C535674 SCTID:715415005 GARD:0008423 ICD10CM:G60.2" +MONDO:0018712 "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia." "UMLS:C1304513 SCTID:403984006 UMLS:CN242120 Orphanet:458758 NCIT:C45475 ICD10CM:D18.0" MONDO:0002359 "A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification." "ICDO:9221/0 NCIT:C4302 UMLS:C0334548 DOID:2601" MONDO:0041182 "SCTID:238525001 UMLS:C0031736" -MONDO:0016821 "UMLS:CN227007 ICD10:Q87.2 GARD:0004860 Orphanet:2580" +MONDO:0016821 "UMLS:CN227007 ICD10CM:Q87.2 GARD:0004860 Orphanet:2580" PATO:0000025 "A single physical entity inhering in an bearer by virtue of the bearer's quantities or relative ratios of subparts." UBERON:0002400 CL:1001601 "Hormone secreting cell located in the cortex of adrenal gland. Glandular cells in the adrenal cortex secrete mineralocorticoids, glucocorticoids and androgens." "CALOHA:TS-2177" @@ -1705,8 +1704,8 @@ http://identifiers.org/hgnc/20087 UBERON:0005162 MONDO:0009935 "MESH:C564862 UMLS:C1849552 OMIM:265400 Orphanet:422" MONDO:0006312 "A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." "MESH:D047708 UMLS:C1266121 NCIT:C7052 ICDO:8824/0 ONCOTREE:MF EFO:1000389 DOID:4386" -MONDO:0017187 "Orphanet:276598 ICD10:E16.1 OMIM:256450" -MONDO:0018308 "A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good." "Orphanet:386 UMLS:C1333971 GARD:0002651 ICD10:D13.4 UMLS:C0334091 NCIT:C5751 SCTID:715397000" +MONDO:0017187 "ICD10CM:E16.1 Orphanet:276598 OMIM:256450" +MONDO:0018308 "A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good." "Orphanet:386 UMLS:C1333971 ICD10CM:D13.4 GARD:0002651 UMLS:C0334091 NCIT:C5751 SCTID:715397000" MONDO:0004287 "A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm." "DOID:7577 NCIT:C37256 UMLS:C1335303" GO:0010511 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol." MONDO:0015889 "Orphanet:181384 UMLS:CN200503" @@ -1714,7 +1713,7 @@ UBERON:0001202 UBERON:0003865 http://identifiers.org/hgnc/303 UBERON:0001468 -MONDO:0013468 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene." "UMLS:C3151227 ICD10:H35.5 OMIM:613861 DOID:0110352" +MONDO:0013468 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene." "UMLS:C3151227 OMIM:613861 DOID:0110352" MONDO:0014619 "OMIM:616395 UMLS:C4017171" NCBITaxon:452284 "GC_ID:1" MONDO:0016386 "This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents." "MESH:C538075 UMLS:C2931722 Orphanet:2235" @@ -1723,15 +1722,15 @@ MONDO:0007535 "UMLS:C1851718 OMIM:130700 MESH:C565057" UBERON:0003601 UBERON:0001206 UBERON:0000004 -MONDO:0012438 "Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." "OMIM:610204 ICD10:Q04.3 GARD:0010709 DOID:0060274 MESH:C537745 SCTID:718607001 Orphanet:166068 UMLS:C1857762" +MONDO:0012438 "Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." "OMIM:610204 GARD:0010709 DOID:0060274 MESH:C537745 SCTID:718607001 ICD10CM:Q04.3 Orphanet:166068 UMLS:C1857762" HP:0001260 "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." "MSH:D004401 UMLS:C0013362 SNOMEDCT_US:8011004" -MONDO:0015278 "Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives." "NCIT:C43298 SCTID:715414009 OMIM:613348 ICD10:C25 MESH:C535837 OMIM:613347 OMIM:606856 OMIM:260350 UMLS:C2931038 Orphanet:1333 GARD:0004206 UMLS:C0235974 OMIM:614320" +MONDO:0015278 "Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives." "NCIT:C43298 SCTID:715414009 OMIM:613348 MESH:C535837 OMIM:613347 OMIM:606856 OMIM:260350 UMLS:C2931038 ICD10CM:C25 Orphanet:1333 GARD:0004206 UMLS:C0235974 OMIM:614320" MONDO:0015888 "Orphanet:181381 UMLS:CN226773" -MONDO:0015622 "SCTID:240880004 ICD10:B87.1 UMLS:C0344061 Orphanet:165955 ICD9:998.89" +MONDO:0015622 "ICD10CM:B87.1 SCTID:240880004 UMLS:C0344061 Orphanet:165955 ICD9:998.89" http://identifiers.org/hgnc/568 MONDO:0007834 "A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia." "NCIT:C4375 UMLS:C1578917 OMIM:147630 SCTID:274944000 MESH:C563258" -MONDO:0018960 "Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." "Orphanet:617 ICD10:Q62.2 SCTID:717459000 GARD:0000219 GARD:0001492" -MONDO:0005352 "A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period." "ICD9:312.9 NCIT:C89329 ICD10:F91.9 SCTID:430909002 ICD9:312.89 MESH:D019955 DOID:12995 EFO:0004216 ICD10:F91" +MONDO:0018960 "Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing." "Orphanet:617 SCTID:717459000 GARD:0000219 GARD:0001492" +MONDO:0005352 "A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period." "ICD9:312.9 NCIT:C89329 SCTID:430909002 ICD9:312.89 MESH:D019955 DOID:12995 EFO:0004216" UBERON:0001205 PATO:0001412 "A structural quality inhering in a bearer by virtue of the bearer's lacking distinct structure." UBERON:0003866 @@ -1739,7 +1738,7 @@ MONDO:0014901 "Any tooth agenesis in which the cause of the disease is a mutatio MONDO:0008736 "UMLS:C0282525 Orphanet:44 UMLS:C3550234 Orphanet:772 OMIM:202370 DOID:0080622" MONDO:0004191 "So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria." "DOID:7334 UMLS:C0334039 NCIT:C97097 NCIT:C7413" http://identifiers.org/hgnc/3690 -MONDO:0019420 "X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome." "SCTID:719011002 Orphanet:85322 UMLS:CN206176 ICD10:Q87.8" +MONDO:0019420 "X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome." "SCTID:719011002 ICD10CM:Q87.8 Orphanet:85322 UMLS:CN206176" http://identifiers.org/hgnc/21285 IAO:0000102 "data about an ontology part is a data item about a part of an ontology, for example a term"@en UBERON:0003868 @@ -1759,26 +1758,26 @@ UBERON:0001204 UBERON:0003867 MONDO:0006338 MONDO:0020309 -MONDO:0043458 "Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES." "UMLS:C0034535 MESH:D011832" +MONDO:0043458 "Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES." "UMLS:C0034535 MESH:D011832 ICD10CM:L55-L59 ICD10CM:T66-T78" MONDO:0008735 "OMIM:202355 UMLS:C1859971 Orphanet:361 MESH:C565971" MONDO:0000840 "A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism." "DOID:0080018 SCTID:431591000124102" MONDO:0001168 "A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body." "ICD9:342.10 DOID:10967 UMLS:C0270805 NCIT:C116905 ICD9:343.1 SCTID:79633009" MONDO:0020313 "Orphanet:98825 UMLS:CN207134" -MONDO:0006935 "The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies." "MESH:D011662 NCIT:C34961 SCTID:204370002 DOID:8861 EFO:1001137 ICD9:746.83 ICD10:Q24.3" +MONDO:0006935 "The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies." "MESH:D011662 NCIT:C34961 SCTID:204370002 DOID:8861 EFO:1001137 ICD9:746.83" MONDO:0002363 "A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma." "UMLS:C0030354 MESH:D010212 NCIT:C3713 DOID:2615 ICDO:8050/0 SCTID:711329002 NCIT:C7440" MONDO:0013759 "An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer." "OMIM:614456 Orphanet:293822" -MONDO:0007404 "Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism." "OMIM:123450 MESH:D003410 ICD9:758.31 MedDRA:10011385 GARD:0006213 SCTID:70173007 Orphanet:281 NCIT:C34518 UMLS:CN776901 ICD9:758.39 DOID:12580 ICD10:Q93.4 UMLS:C0010314" -MONDO:0006721 "Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis." "SCTID:21794005 ICD10:M65.4 UMLS:C0149870 ICD9:727.04 MESH:D053684 EFO:1000891 DOID:14107" +MONDO:0007404 "Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism." "OMIM:123450 MESH:D003410 ICD9:758.31 MedDRA:10011385 GARD:0006213 SCTID:70173007 Orphanet:281 NCIT:C34518 UMLS:CN776901 ICD10CM:Q93.4 ICD9:758.39 DOID:12580 UMLS:C0010314" +MONDO:0006721 "Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis." "SCTID:21794005 UMLS:C0149870 ICD9:727.04 MESH:D053684 EFO:1000891 DOID:14107" UBERON:0000002 GO:0045271 "Respiratory chain complex I is an enzyme of the respiratory chain. It consists of several polypeptide chains and is L-shaped, with a horizontal arm lying in the membrane and a vertical arm that projects into the matrix. The electrons of NADH enter the chain at this complex." http://identifiers.org/hgnc/30500 MONDO:0011278 ENVO:04000004 "The concentration of carbon dioxide when measured in air." HP:0002500 "An abnormality of the cerebral white matter." "UMLS:C0948163 MSH:D049292 UMLS:C4020851" -MONDO:0019327 "ICD9:759.6 Orphanet:79485 SCTID:703285005 UMLS:CN205986 ICD10:Q85.8" +MONDO:0019327 "ICD9:759.6 Orphanet:79485 SCTID:703285005 UMLS:CN205986 ICD10CM:Q85.8" MONDO:0003614 "A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins." "ICD9:238.1 UMLS:C0346200 GARD:0010802 DOID:5729 NCIT:C5356 NCIT:C4518 SCTID:254883003" MONDO:0023072 "GARD:0002131 Orphanet:1939" -MONDO:0009354 "An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia." "GARD:0002732 DOID:0050732 ICD10:E72.1 OMIM:236270 Orphanet:2169 UMLS:C1856057 Orphanet:622 NCIT:C142173 EFO:0005568 MESH:C565510" +MONDO:0009354 "An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia." "GARD:0002732 DOID:0050732 OMIM:236270 Orphanet:2169 UMLS:C1856057 ICD10CM:E72.1 Orphanet:622 NCIT:C142173 EFO:0005568 MESH:C565510" MONDO:0100340 "Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene." "MESH:C565561 UMLS:C1856689 OMIM:229300" http://identifiers.org/hgnc/566 GO:1901738 "Any process that modulates the frequency, rate or extent of vitamin A metabolic process." @@ -1789,26 +1788,26 @@ UBERON:0003860 UBERON:2001089 MONDO:0003774 "A meningioma that affects the cerebral sulcus." "MESH:D008579 NCIT:C4959 DOID:6114 UMLS:C0751303" MONDO:0020314 -MONDO:0001442 "A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression." "EFO:0008623 MESH:D019263 DOID:12139 ICD9:300.4 NCIT:C34562 ICD10:F34.1 SCTID:78667006" -MONDO:0007761 "A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration." "SCTID:238085009 Orphanet:413 DOID:1172 ICD9:272.1 GARD:0006418 NCIT:C34711 UMLS:CN074246 OMIM:145750 OMIM:144600 MESH:D006953 ICD10:E78.1" +MONDO:0001442 "A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression." "EFO:0008623 MESH:D019263 DOID:12139 ICD10CM:F34.1 ICD9:300.4 NCIT:C34562 SCTID:78667006" +MONDO:0007761 "A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration." "SCTID:238085009 Orphanet:413 DOID:1172 ICD9:272.1 GARD:0006418 NCIT:C34711 UMLS:CN074246 OMIM:145750 OMIM:144600 MESH:D006953" MONDO:0006548 "Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder." "UMLS:C0015456 MESH:D005148 EFO:1000698 DOID:3134" -MONDO:0019609 "The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." "OMIM:614886 OMIM:614862 OMIM:614883 GARD:0007917 MESH:D015211 ICD10:Q87.8 OMIM:614870 OMIM:214110 ICD10:E71.510 NCIT:C85239 UMLS:C0043459 OMIM:614859 OMIM:214100 DOID:905 OMIM:614876 OMIM:614882 SCTID:88469006 OMIM:614872 OMIM:614866 OMIM:614887 Orphanet:912" +MONDO:0019609 "The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." "OMIM:614886 OMIM:614862 OMIM:614883 GARD:0007917 MESH:D015211 OMIM:614870 OMIM:214110 NCIT:C85239 ICD10CM:Q87.8 UMLS:C0043459 OMIM:614859 OMIM:214100 DOID:905 OMIM:617370 OMIM:614876 OMIM:614882 SCTID:88469006 ICD10CM:E71.510 OMIM:614872 OMIM:614866 OMIM:614887 Orphanet:912" MONDO:0027766 "Almost complete absence of subcutaneous and/or visceral adipose tissue." "DOID:0080298 NCIT:C131815 UMLS:C4317112 HP:0009064" MONDO:0006069 "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." "EFO:1000067 DOID:6276 NCIT:C5964 UMLS:C1334556" CL:0002368 "An endo-epithelial cell of the respiratory tract." "BTO:0004533" NCBITaxon:2732462 "GC_ID:1" -MONDO:0009045 "Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." "OMIM:218900 SCTID:722381004 ICD10:Q87.8 GARD:0001614 Orphanet:1380 UMLS:C0795914 MESH:C536216" -MONDO:0000909 "A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes." "UMLS:C2751312 Orphanet:89938 DOID:0110146 OMIM:613090 ICD10:E26.8 Orphanet:112" +MONDO:0009045 "Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963." "OMIM:218900 ICD10CM:Q87.8 SCTID:722381004 GARD:0001614 Orphanet:1380 UMLS:C0795914 MESH:C536216" +MONDO:0000909 "A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes." "UMLS:C2751312 Orphanet:89938 DOID:0110146 OMIM:613090 Orphanet:112" MONDO:0006290 "A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma." "EFO:1000352 GARD:0003360 UMLS:C4048549 SCTID:145831000119103 NCIT:C4925" UBERON:0000003 MONDO:0011277 "OMIM:602994" HP:0100872 "An abnormality of the plantar part of foot, that is of the soles of the feet." "UMLS:C4020946" -MONDO:0007219 "A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant." "SCTID:715722003 Orphanet:93382 OMIM:112910 GARD:0000983 MESH:C537092 DOID:0110968 UMLS:C1862130 ICD10:Q73.8" +MONDO:0007219 "A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant." "SCTID:715722003 Orphanet:93382 OMIM:112910 GARD:0000983 MESH:C537092 DOID:0110968 ICD10CM:Q73.8 UMLS:C1862130" MONDO:0012210 "UMLS:C1836670 OMIM:609179" ENVO:01001309 "A liquid surface layer which is in contact with air." -MONDO:0019326 "ICD10:Q85.8 SCTID:703286006 Orphanet:79484 ICD9:759.6 UMLS:CN205985" +MONDO:0019326 "ICD10CM:Q85.8 SCTID:703286006 Orphanet:79484 ICD9:759.6 UMLS:CN205985" MONDO:0009960 "Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene." "UMLS:C0009324 DOID:0110892 SCTID:34000006 ICD9:555.9 GARD:0009857 OMIM:266600" -MONDO:0002516 "A primary or metastatic malignant neoplasm involving any part of the digestive system." "ICD9:239.0 NCIT:C4890 MESH:D005770 ICD10:C26.9 DOID:3119 NCIT:C3052 ICD10:C15.C26" +MONDO:0002516 "A primary or metastatic malignant neoplasm involving any part of the digestive system." "ICD9:239.0 NCIT:C4890 MESH:D005770 DOID:3119 NCIT:C3052 ICD10CM:C15-C26" http://identifiers.org/hgnc/565 http://identifiers.org/hgnc/10257 MONDO:0002891 "DOID:4148" @@ -1816,25 +1815,25 @@ UBERON:0003861 NCBITaxon:11018 "GC_ID:1" UBERON:0001464 MONDO:0000493 -MONDO:0001221 "Abnormally dilated veins of the esophagus." "ICD10:I85 SCTID:17709002 MESH:D004932 ICD9:456.2 ICD9:456.0 ICD10:I85.01 NCIT:C53506 ICD9:456.20 SCTID:28670008 GARD:0006384 NCIT:C78282 DOID:112" +MONDO:0001221 "Abnormally dilated veins of the esophagus." "ICD10CM:I85.01 SCTID:17709002 MESH:D004932 ICD9:456.2 ICD9:456.0 ICD10CM:I85 NCIT:C53506 ICD9:456.20 SCTID:28670008 GARD:0006384 NCIT:C78282 DOID:112" CHEBI:35107 "Saturated acyclic nitrogen hydrides having the general formula NnHn+2." -MONDO:0020316 "Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy." "ICD10:C92.5 Orphanet:98829 GARD:0000536" +MONDO:0020316 "Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy." "Orphanet:98829 GARD:0000536" MONDO:0023070 -MONDO:0006030 "Recurrent infections of the urinary bladder." "ICD9:595.2 EFO:1000023 UMLS:C0221763 NCIT:C27008 DOID:1680 ICD10:N30.2 SCTID:33655002" +MONDO:0006030 "Recurrent infections of the urinary bladder." "ICD9:595.2 EFO:1000023 UMLS:C0221763 NCIT:C27008 DOID:1680 SCTID:33655002" CHEBI:25512 "An endogenous compound that is used to transmit information across the synapse between a neuron and another cell." MONDO:0005775 "An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs." "EFO:0007287 MESH:D005955 SCTID:62403005 UMLS:C2939465 DOID:2862 NCIT:C98933" -MONDO:0020048 "Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography." "Orphanet:981 GARD:0003012 ICD10:Q28.1 SCTID:722004001" +MONDO:0020048 "Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography." "Orphanet:981 ICD10CM:Q28.1 GARD:0003012 SCTID:722004001" UBERON:0001467 -MONDO:0011535 "Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene." "OMIM:605289 MESH:C565344 ICD10:Q71.6 DOID:0090023 Orphanet:2440 UMLS:C0265554" -MONDO:0016643 "A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement." "MESH:C538065 Orphanet:250 ICD10:Q75.8 OMIMPS:136760 UMLS:C1876203 GARD:0002392 NCIT:C129028 SCTID:86610004" +MONDO:0011535 "Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene." "OMIM:605289 MESH:C565344 DOID:0090023 Orphanet:2440 UMLS:C0265554" +MONDO:0016643 "A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement." "MESH:C538065 Orphanet:250 OMIMPS:136760 ICD10CM:Q75.8 UMLS:C1876203 GARD:0002392 NCIT:C129028 SCTID:86610004" MONDO:0002587 "A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics." "NCIT:C7386 DOID:3278 UMLS:C1333383" -MONDO:0019329 "ICD10:D18.1 GARD:0013020 Orphanet:79490" +MONDO:0019329 "GARD:0013020 ICD10CM:D18.1 Orphanet:79490" UBERON:0001201 MONDO:0022971 "GARD:0001840" http://identifiers.org/hgnc/20093 GO:0015106 "Enables the transfer of bicarbonate from one side of a membrane to the other. Bicarbonate is the hydrogencarbonate ion, HCO3-." MONDO:0001690 "ICD9:372.15 UMLS:C0155148 SCTID:13816006 DOID:13341" -MONDO:0007908 "Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures)." "ICD10:E88.8 DOID:14116 GARD:0006957 OMIM:151800 UMLS:C0023804 UMLS:CN201658 UMLS:C0024445 SCTID:238902007 NCIT:C4392 EFO:1000737 Orphanet:2398" +MONDO:0007908 "Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures)." "DOID:14116 GARD:0006957 OMIM:151800 UMLS:C0023804 UMLS:CN201658 UMLS:C0024445 SCTID:238902007 ICD10CM:E88.8 NCIT:C4392 EFO:1000737 Orphanet:2398" MONDO:0005157 "A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms." "ONCOTREE:LYMPH EFO:0001642 UMLS:C0598798 ICD9:200.7 NCIT:C7065 MESH:D016403" MONDO:0024551 "A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells." "Orphanet:538931 Orphanet:2442 OMIM:308240 UMLS:C0549463" CHEBI:35479 @@ -1843,38 +1842,38 @@ MONDO:0013410 "DOID:0111769 OMIM:613762 Orphanet:251510 Orphanet:242 UMLS:C3151 GO:1901565 "The chemical reactions and pathways resulting in the breakdown of organonitrogen compound." UBERON:0005160 MONDO:0005980 "Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks." "EFO:0007508 MESH:D013984 DOID:4109 UMLS:C0040196" -MONDO:0012117 "A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23)." "MESH:C535750 SCTID:720978005 ICD10:E77.8 OMIM:608776 UMLS:C2931006 DOID:0080564 Orphanet:79328 GARD:0009839 OMIM:263210" +MONDO:0012117 "A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23)." "ICD10CM:E77.8 MESH:C535750 SCTID:720978005 OMIM:608776 UMLS:C2931006 DOID:0080564 Orphanet:79328 GARD:0009839 OMIM:263210" MONDO:0023071 "GARD:0002130" -MONDO:0010524 "A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia." "DOID:0060064 SCTID:719816006 OMIM:301310 ICD10:D64.0 MESH:C536358 Orphanet:2802 UMLS:C1845028 UMLS:C4304338 DOID:0050554 GARD:0000668" -MONDO:0001949 "Acute form of thyroiditis (disease)." "ICD10:E06.0 UMLS:C0001360 ICD9:245.0 SCTID:190293001 DOID:14353" +MONDO:0010524 "A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia." "DOID:0060064 SCTID:719816006 OMIM:301310 MESH:C536358 Orphanet:2802 UMLS:C1845028 UMLS:C4304338 DOID:0050554 GARD:0000668 ICD10CM:D64.0" +MONDO:0001949 "Acute form of thyroiditis (disease)." "ICD10CM:E06.0 UMLS:C0001360 ICD9:245.0 SCTID:190293001 DOID:14353" UBERON:0001466 UBERON:0003863 UBERON:0001200 MONDO:0002653 "A premalignant condition morphologically characterised by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003" "DOID:3448 NCIT:C27817 SCTID:398768004 UMLS:C0221286" MONDO:0012478 "Orphanet:1991 UMLS:C1835894 OMIM:610361 DOID:0080402 MESH:C563675" -MONDO:0017339 "Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment." "Orphanet:289586 ICD10:Q80.8 OMIM:617115 UMLS:C1838440 OMIM:607936" +MONDO:0017339 "Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment." "Orphanet:289586 OMIM:617115 UMLS:C1838440 ICD10CM:Q80.8 OMIM:607936" MONDO:0024612 "The manic phase of bipolar disorder." "SCTID:191618007 NCIT:C34805" NCBITaxon:136841 "GC_ID:11" MONDO:0014875 "OMIM:617027 UMLS:C4310756" MONDO:0014549 "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene." "OMIM:616248 UMLS:C4015686" -MONDO:0014086 "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene." "Orphanet:666 ICD10:Q78.0 UMLS:C3808844 DOID:0110347 Orphanet:216820 OMIM:615220 Orphanet:216812" +MONDO:0014086 "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene." "Orphanet:666 UMLS:C3808844 DOID:0110347 ICD10CM:Q78.0 Orphanet:216820 OMIM:615220 Orphanet:216812" HP:0002414 "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele." "Fyler:4157 MSH:D016135 UMLS:C0080178 SNOMEDCT_US:67531005" CHEBI:33655 "A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekule structure) is said to possess aromatic character." -MONDO:0014226 "Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed." "SCTID:763713000 UMLS:C3809768 OMIM:615518 Orphanet:228000 GARD:0012375 ICD10:D72.8" +MONDO:0014226 "Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed." "ICD10CM:D72.8 SCTID:763713000 UMLS:C3809768 OMIM:615518 Orphanet:228000 GARD:0012375" MONDO:0010918 "OMIM:600669 ICD9:345.10 SCTID:36803009" -MONDO:0007529 "OMIM:130100 GARD:0010103 UMLS:C0221271 Orphanet:79148 SCTID:49428008 ICD10:L87.2 MESH:C536202 MedDRA:10014338" -MONDO:0009260 "GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations." "Orphanet:354 UMLS:C0085131 GARD:0006479 DOID:0080502 ICD10:E75.1 OMIM:230500 SCTID:238026007 Orphanet:79255" +MONDO:0007529 "OMIM:130100 GARD:0010103 UMLS:C0221271 Orphanet:79148 SCTID:49428008 MESH:C536202 MedDRA:10014338 ICD10CM:L87.2" +MONDO:0009260 "GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations." "Orphanet:354 UMLS:C0085131 GARD:0006479 DOID:0080502 OMIM:230500 SCTID:238026007 Orphanet:79255 ICD10CM:E75.1" MONDO:0022712 "UMLS:C2931063 GARD:0004025 MESH:C535922" CL:0002198 "A large epithelial cell with an extremely acidophilic and granular cytoplasm, containing vast numbers of mitochondria; such cells may undergo neoplastic transformation. From the Greek word onkos meaning swelling, this cell type is found in parathyroid, salivary and thyroid glands." "FMA:67606" UBERON:0001461 NCBITaxon:197562 "PMID:11557979 PMID:10874751 GC_ID:1" MONDO:0700022 "Chromosomal disorder in which chromosome 15 is affected." -MONDO:0019589 "UMLS:CN206426 Orphanet:90642 ICD10:H90.3 SCTID:232333009" -MONDO:0006682 "An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm." "SCTID:3548001 MESH:D020968 SCTID:72893007 GARD:0004228 EFO:1000843 NCIT:C84600 ICD10:G54.5 MedDRA:10073002 ICD9:723.4 DOID:3689 SCTID:26609002" -MONDO:0008243 "A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." "Orphanet:282 NCIT:C85008 EFO:0003096 OMIM:172700 ICD10:G31.01 UMLS:C0236642 MESH:D020774 ICD9:331.11 DOID:11870 SCTID:13092008 GARD:0007392" +MONDO:0019589 "UMLS:CN206426 ICD10CM:H90.3 Orphanet:90642 SCTID:232333009" +MONDO:0006682 "An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm." "SCTID:3548001 MESH:D020968 SCTID:72893007 GARD:0004228 EFO:1000843 NCIT:C84600 MedDRA:10073002 ICD9:723.4 DOID:3689 SCTID:26609002" +MONDO:0008243 "A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." "Orphanet:282 NCIT:C85008 EFO:0003096 OMIM:172700 ICD10CM:G31.01 UMLS:C0236642 MESH:D020774 ICD9:331.11 DOID:11870 SCTID:13092008 GARD:0007392" MONDO:0013867 "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene." "Orphanet:97229 OMIM:614707 UMLS:C3553538 GARD:0012861 HGNC:30224" MONDO:0003100 "A neoplasm (disease) that involves the nerve plexus." "UMLS:C1334945 NCIT:C5822 DOID:4693" -MONDO:0003528 "An ischemic contracture of the forearm that most often occurs secondary to trauma." "SCTID:111247001 ICD10:T79.6 DOID:5587 UMLS:C0042951 MESH:D054061 ICD9:958.6 NCIT:C35130" +MONDO:0003528 "An ischemic contracture of the forearm that most often occurs secondary to trauma." "SCTID:111247001 DOID:5587 UMLS:C0042951 MESH:D054061 ICD9:958.6 NCIT:C35130" MONDO:0014610 NCBITaxon:90339 "GC_ID:1" CHEBI:29337 @@ -1883,21 +1882,21 @@ MONDO:0010663 "Mental retardation-hypotonic facies covers a group of X-linked sy MONDO:0010917 "MESH:C535938 GARD:0006048 OMIM:600668 Orphanet:1416" MONDO:0100015 MONDO:0700036 "A sex cord-stromal tumor characterized by mixed features of both fibroma and thecoma." -MONDO:0014601 "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene." "Orphanet:397709 ICD10:Q87.8 OMIM:616354 DOID:0080066 UMLS:C4225355" +MONDO:0014601 "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene." "ICD10CM:Q87.8 Orphanet:397709 OMIM:616354 DOID:0080066 UMLS:C4225355" CL:0000765 "A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers." "FMA:83504 CALOHA:TS-0289 BTO:0001571" MONDO:0001709 "Sarcoidosis with a complication of hypercalcemia." "DOID:13407 NCIT:C35807 UMLS:C1334067" UBERON:5103625 MONDO:0006041 "A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis." "UMLS:C0280089 ONCOTREE:LUCA SCTID:254627002 NCIT:C4038 EFO:1000037" MONDO:0014573 "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene." "Orphanet:2050 OMIM:616294 UMLS:C4225382" -MONDO:0013231 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene." "Orphanet:791 OMIM:613341 GARD:0010883 Orphanet:65 MESH:C567636 UMLS:C2750063 ICD10:H35.5 DOID:0110188" +MONDO:0013231 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene." "Orphanet:791 OMIM:613341 GARD:0010883 Orphanet:65 MESH:C567636 UMLS:C2750063 DOID:0110188" UBERON:0001460 MONDO:0012933 "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene." "Orphanet:145 Orphanet:227535 OMIM:612555" MONDO:0021038 "A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms." "UMLS:C3536893 NCIT:C27291 UMLS:C0684337" -MONDO:0019322 "EFO:0008613 MedDRA:10057053 Orphanet:79479 ICD10:L10.1 SCTID:81285006 UMLS:C0263316 UMLS:CN205981" +MONDO:0019322 "MedDRA:10057053 EFO:0008613 ICD10CM:L10.1 Orphanet:79479 SCTID:81285006 UMLS:C0263316 UMLS:CN205981" MONDO:0019500 "Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor." "Orphanet:883 MedDRA:10043276 SCTID:768937006" CL:0002009 "A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages." -MONDO:0010169 "Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene." "GARD:0005440 Orphanet:886 Orphanet:231178 MESH:C536490 UMLS:C1848634 ICD10:H35.5 OMIM:276901 DOID:0110838" -MONDO:0018495 "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination." "ICD10:E79.8 Orphanet:423479 UMLS:CN237501" +MONDO:0010169 "Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene." "GARD:0005440 Orphanet:886 Orphanet:231178 MESH:C536490 UMLS:C1848634 OMIM:276901 DOID:0110838" +MONDO:0018495 "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination." "ICD10CM:E79.8 Orphanet:423479 UMLS:CN237501" GO:0072348 "The directed movement of compounds that contain sulfur, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." PO:0009002 "A cell which is a plant structure (PO:0009011)." "GO:0005623 PO_GIT:56" MONDO:0000833 "A bone disease that results in formation or resorption abnormalities located in bone." "DOID:0080005" @@ -1909,16 +1908,16 @@ MONDO:0023910 "OMIMPS:212720" MONDO:0012313 "Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene." "OMIM:609621 MESH:C566505 UMLS:C1865019" NCBITaxon:2752537 "GC_ID:1" MONDO:0009875 "Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene." "OMIM:262300 Orphanet:49382 DOID:0110008 UMLS:C1849792 GARD:0009650" -MONDO:0010535 "Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas." "OMIM:301845 Orphanet:166113 SCTID:238640007 GARD:0000838 Orphanet:113 ICD10:L98.8 UMLS:CN200039 UMLS:C0406355 SCTID:254820002 ICD9:757.39" +MONDO:0010535 "Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas." "OMIM:301845 UMLS:CN200039 ICD10CM:L98.8 Orphanet:113 Orphanet:166113 SCTID:254820002 SCTID:238640007 UMLS:C0406355 ICD9:757.39 GARD:0000838" http://identifiers.org/hgnc/29529 CL:0000550 "A nucleated, immature erythrocyte in which the nucleus occupies a relatively smaller part of the cell than in its precursor, the basophilic erythroblast. The cytoplasm is beginning to acquire hemoglobin and thus is no longer a purely basophilic, but takes on acidophilic aspects, which becomes progressively more marked as the cell matures. The chromatin of the nucleus is arranged in coarse, deeply staining clumps. This cell is CD71-positive and lacks hematopoeitic lineage markers." "FMA:83506" NCBITaxon:2732461 "GC_ID:1" MONDO:0100016 CL:0000319 "BTO:0003689" MONDO:0100386 "Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)" "NCIT:C36517" -MONDO:0019325 "SCTID:703284009 ICD9:759.6 Orphanet:79483 UMLS:CN205984 ICD10:Q85.8" -MONDO:0015013 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene." "DOID:0080350 ICD10CM:H35.5 OMIM:617304 UMLS:C4310626" -MONDO:0019078 "Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies." "GARD:0005666 OMIMPS:220210 Orphanet:7 OMIM:300963 SCTID:718556007 MESH:C535313 ICD10:Q87.8 OMIM:220210 DOID:0060565 UMLS:C0796137" +MONDO:0019325 "SCTID:703284009 ICD9:759.6 Orphanet:79483 UMLS:CN205984 ICD10CM:Q85.8" +MONDO:0015013 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene." "DOID:0080350 OMIM:617304 UMLS:C4310626" +MONDO:0019078 "Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies." "GARD:0005666 OMIMPS:220210 Orphanet:7 OMIM:300963 SCTID:718556007 MESH:C535313 ICD10CM:Q87.8 OMIM:220210 DOID:0060565 UMLS:C0796137" HP:0032973 "Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions." MONDO:0024479 "A epithelial neoplasm that involves the colon." UBERON:0001463 @@ -1926,24 +1925,24 @@ MONDO:0004117 "An aggressive neuroendocrine carcinoma arising from the ampulla o MONDO:0022977 "GARD:0001846" MONDO:0044067 "A fungal infection by any of the Candida species in a sterile body compartment." "MESH:D058365 NCIT:C116813 EFO:1001282" MONDO:0022975 "GARD:0001843" -MONDO:0020312 "ICD10:C92.2 DOID:0060597 Orphanet:98824 MedDRA:10054651 NCIT:C3519" -MONDO:0016827 "Orphanet:2601 ICD10:G71.8 UMLS:CN230273" +MONDO:0020312 "DOID:0060597 Orphanet:98824 MedDRA:10054651 NCIT:C3519" +MONDO:0016827 "Orphanet:2601 UMLS:CN230273 ICD10CM:G71.8" MONDO:0014878 "UMLS:C4284595 OMIM:617035" GO:1903579 "Any process that stops, prevents or reduces the frequency, rate or extent of ATP metabolic process." -MONDO:0009929 "GARD:0004595 MESH:C566882 UMLS:C1968602 ICD10:P28.0 Orphanet:217563 OMIM:265120 Orphanet:264675" +MONDO:0009929 "GARD:0004595 ICD10CM:P28.0 MESH:C566882 UMLS:C1968602 Orphanet:217563 OMIM:265120 Orphanet:264675" MONDO:0019478 "A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults." "NCIT:C7942 UMLS:C1332210 MEDGEN:231044" MONDO:0010919 "MESH:C563458 UMLS:C1833487 OMIM:600670" MONDO:0004276 "A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a grey mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm." "ICDO:8420/0 UMLS:C1333488 UMLS:C0334352 DOID:7549 SCTID:403945001 NCIT:C6088" HP:0100799 "A tumor (abnormal growth of tissue) of the middle ear." "UMLS:C0345617 NCIT:C3262 SNOMEDCT_US:127006003" -MONDO:0010748 "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies." "Orphanet:3341 MESH:C536970 UMLS:C1839129 OMIM:314300 GARD:0005230 ICD10:Q87.8" +MONDO:0010748 "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies." "ICD10CM:Q87.8 Orphanet:3341 MESH:C536970 UMLS:C1839129 OMIM:314300 GARD:0005230" NCBITaxon:197563 "PMID:9727836 PMID:11557979 GC_ID:1" -MONDO:0005060 "A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors." "UMLS:C0023827 OMIM:613488 MESH:D008080 NCIT:C3194 SCTID:254829001 GARD:0006913 ONCOTREE:LIPO MedDRA:10024627 Orphanet:69078 EFO:0000569 ICDO:8850/3 DOID:3382 ICD10:C49.9 ICD9:171.9" -MONDO:0010017 "A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly." "Orphanet:158029 EFO:1001170 UMLS:C0036489 OMIM:269600 NCIT:C85062 GARD:0008241 MESH:D012618 DOID:4423 SCTID:37821003 ICD10:D76.3" +MONDO:0005060 "A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors." "UMLS:C0023827 OMIM:613488 MESH:D008080 NCIT:C3194 SCTID:254829001 GARD:0006913 ONCOTREE:LIPO MedDRA:10024627 Orphanet:69078 EFO:0000569 ICDO:8850/3 DOID:3382 ICD9:171.9 ICD10CM:C49.9" +MONDO:0010017 "A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly." "Orphanet:158029 EFO:1001170 UMLS:C0036489 OMIM:269600 NCIT:C85062 GARD:0008241 MESH:D012618 DOID:4423 ICD10CM:D76.3 SCTID:37821003" ECTO:0400000 "A exposure event involving the interaction of an exposure receptor to layer." -MONDO:0012216 "OMIM:609218 Orphanet:397618 MESH:C563774 ICD10:Q15.8" +MONDO:0012216 "OMIM:609218 Orphanet:397618 MESH:C563774 ICD10CM:Q15.8" GO:0016825 "Catalysis of the hydrolysis of any acid phosphorus-nitrogen bond." MONDO:0003830 "DOID:6258 UMLS:C1519706 NCIT:C39809" -MONDO:0020571 "Orphanet:99991 ICD10:A75.0 UMLS:CN207497" +MONDO:0020571 "ICD10CM:A75.0 Orphanet:99991 UMLS:CN207497" MONDO:0001435 "UMLS:C0344289 SCTID:65545003 ICD9:361.12 DOID:12108" MONDO:0011270 "UMLS:C1864472 OMIM:602759 MESH:C566426" MONDO:0044207 "Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene." "UMLS:C0398593 OMIM:245480 Orphanet:169142" @@ -1953,13 +1952,13 @@ MONDO:0009146 "Ectodermal dysplasia-sensorineural deafness syndrome is character NCBITaxon:85653 CL:0009004 "Any cell in the retina, the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates." "PMID:10702418" UBERON:0009959 -MONDO:0010538 "Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested." "ICD10:Q87.5 UMLS:C2931060 Orphanet:2565 GARD:0004886 DOID:0110973 MESH:C535914 SCTID:733095006 OMIM:301940" +MONDO:0010538 "Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested." "UMLS:C2931060 Orphanet:2565 GARD:0004886 DOID:0110973 ICD10CM:Q87.5 MESH:C535914 SCTID:733095006 OMIM:301940" MONDO:0008910 "An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity." "ICD9:279.8 MESH:C562876 OMIM:212070 UMLS:C0398782 DOID:0111583 NCIT:C132196 SCTID:234627009" GO:0016670 "Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces oxygen." NCBITaxon:12475 "GC_ID:1" MONDO:0022953 "A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity." "GARD:0001798" http://identifiers.org/hgnc/3434 -MONDO:0018899 "Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." "SCTID:715574002 ICD10:G31.1 Orphanet:54247 UMLS:CN205270" +MONDO:0018899 "Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." "ICD10CM:G31.1 SCTID:715574002 Orphanet:54247 UMLS:CN205270" CHEBI:35219 MONDO:0015890 "Orphanet:181387" HP:0000572 "Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that)." "UMLS:C3665386 SNOMEDCT_US:7973008" @@ -1970,8 +1969,8 @@ MONDO:0003831 "NCIT:C39810 DOID:6259 UMLS:C1519710" MONDO:0001434 "DOID:12105 ICD9:720.81 ICD9:720.89 ICD9:720.9 SCTID:202649003" CHEBI:34905 "An organic cation that consists of 4,4'-bipyridine bearing two N-methyl substituents loctated at the 1- and 1'-positions." http://identifiers.org/hgnc/7392 -MONDO:0008771 "An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." "OMIM:204690 UMLS:CN200302 SCTID:109477002 DOID:0110066 Orphanet:171836 ICD9:520.5 GARD:0000646 ICD10:K00.5 Orphanet:1031 GARD:0009860 MESH:C538241 OMIM:614253" -MONDO:0011962 "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." "EFO:0004230 OMIM:608089 GARD:0011981 UMLS:C0476089 DOID:1380 KEGG:05213 SCTID:123844007 ICD10:C54.1 NCIT:C3012 NCIT:C27815" +MONDO:0008771 "An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." "OMIM:204690 UMLS:CN200302 SCTID:109477002 DOID:0110066 Orphanet:171836 ICD9:520.5 GARD:0000646 Orphanet:1031 GARD:0009860 MESH:C538241 ICD10CM:K00.5 OMIM:614253" +MONDO:0011962 "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." "EFO:0004230 OMIM:608089 GARD:0011981 UMLS:C0476089 DOID:1380 KEGG:05213 SCTID:123844007 NCIT:C3012 NCIT:C27815" MONDO:0014390 "Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene." "OMIM:615896 UMLS:C4014616 DOID:0110710 Orphanet:170" MONDO:0014862 "Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene." "UMLS:C4310767 OMIM:617008" CL:0000183 "A cell whose primary function is to shorten." @@ -1980,9 +1979,9 @@ MONDO:0010071 NCBITaxon:2315720 "GC_ID:1" http://identifiers.org/hgnc/6193 NCBITaxon:10911 "GC_ID:1" -MONDO:0018902 "A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." "UMLS:C0206669 OMIM:142330 MESH:D018248 OMIM:114550 ONCOTREE:LIAD ICDO:8170/0 NCIT:C3758 ICD10:D13.4 EFO:0000762 MedDRA:10019827 Orphanet:54272 DOID:0050868" -MONDO:0020404 "A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis." "ICD10:Q23.8 ICD9:746.84 SCTID:41371000119100 MedDRA:10066802 Orphanet:99063 UMLS:C1868705 NCIT:C99058" -MONDO:0012064 "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome." "Orphanet:1200 OMIM:616462 UMLS:C1835913 MESH:C563682 GARD:0010041 OMIM:608572 ICD10:Q87.8" +MONDO:0018902 "A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use." "UMLS:C0206669 OMIM:142330 MESH:D018248 ONCOTREE:LIAD ICDO:8170/0 NCIT:C3758 EFO:0000762 MedDRA:10019827 Orphanet:54272 DOID:0050868 ICD10CM:D13.4" +MONDO:0020404 "A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis." "ICD10CM:Q23.8 ICD9:746.84 SCTID:41371000119100 MedDRA:10066802 Orphanet:99063 UMLS:C1868705 NCIT:C99058" +MONDO:0012064 "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome." "Orphanet:1200 OMIM:616462 UMLS:C1835913 ICD10CM:Q87.8 MESH:C563682 GARD:0010041 OMIM:608572" GO:0030212 "The chemical reactions and pathways involving hyaluronan, the naturally occurring anionic form of hyaluronic acid, any member of a group of glycosaminoglycans, the repeat units of which consist of beta-1,4 linked D-glucuronyl-beta-(1,3)-N-acetyl-D-glucosamine." MONDO:0010074 "Orphanet:93303 UMLS:C1849048 OMIM:271630 MESH:C535787" http://identifiers.org/hgnc/3436 @@ -1990,14 +1989,14 @@ MONDO:0000235 GO:0071829 "The disaggregation of a plasma lipoprotein particle into its constituent components." MONDO:0012871 "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene." "OMIM:612347 Orphanet:90647 MESH:C567343 Orphanet:768 GARD:0010364" http://identifiers.org/hgnc/6192 -MONDO:0007384 "Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum)." "Orphanet:231013 OMIM:122450 MESH:C536440 GARD:0010034 SCTID:763218005 UMLS:C1852541 ICD10:G50.8" +MONDO:0007384 "Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum)." "Orphanet:231013 OMIM:122450 MESH:C536440 GARD:0010034 ICD10CM:G50.8 SCTID:763218005 UMLS:C1852541" MONDO:0006693 "Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery." "MESH:D002539 DOID:3527 EFO:1000859 UMLS:C0007774" MONDO:0001432 HP:0001279 "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow." "SNOMEDCT_US:272030005 MSH:D013575 UMLS:C0039070 SNOMEDCT_US:309585006 SNOMEDCT_US:271594007" MONDO:0004911 "A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries." "DOID:9880 UMLS:C0039130 ICD9:093.8 ICD9:093.9 ICD9:093.89 SCTID:83883001" -MONDO:0010824 "Verloes-Gillerot-Fryns syndrome is a rare association of malformations." "GARD:0004550 ICD10:Q56.3 OMIM:600122 Orphanet:2983 MESH:C535693 SCTID:719450007" -MONDO:0100296 "Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques." "Orphanet:659 UMLS:C2609071 ICD10:Q82.8 MedDRA:10068842 OMIM:614594 OMIM:300918 GARD:0004075" -MONDO:0003360 "An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells." "NCIT:C7085 DOID:5271 Orphanet:104076 ICD10:C17.8 ICD10:C17.1 ICD10:C17.2 ICD10:C17.0 SCTID:716651004 UMLS:C0920305 ICD10:C17.3" +MONDO:0010824 "Verloes-Gillerot-Fryns syndrome is a rare association of malformations." "ICD10CM:Q56.3 GARD:0004550 OMIM:600122 Orphanet:2983 MESH:C535693 SCTID:719450007" +MONDO:0100296 "Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques." "ICD10CM:Q82.8 Orphanet:659 UMLS:C2609071 MedDRA:10068842 OMIM:614594 OMIM:300918 GARD:0004075" +MONDO:0003360 "An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells." "NCIT:C7085 DOID:5271 Orphanet:104076 ICD10CM:C17.3 ICD10CM:C17.1 ICD10CM:C17.8 ICD10CM:C17.2 SCTID:716651004 UMLS:C0920305 ICD10CM:C17.0" UBERON:0014639 MONDO:0003748 "An overwhelming, irrational, and persistent fear of traveling in an aircraft." "DOID:605 NCIT:C35413 EFO:1001889" GO:0005488 "The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule." @@ -2009,117 +2008,117 @@ http://identifiers.org/hgnc/3437 MONDO:0012470 "UMLS:C1853195 MESH:C565201 OMIM:610321" MONDO:0044916 "A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm." "UMLS:C1304517 NCIT:C6586 SCTID:404089007" MONDO:0008348 "Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung." "Orphanet:60026 SCTID:718097008 UMLS:C1334969 UMLS:C1867419 OMIM:178610" -MONDO:0010007 "Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive." "GARD:0003596 Orphanet:2511 ICD10:Q87.8 OMIM:268850 UMLS:C0796142" +MONDO:0010007 "Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive." "GARD:0003596 Orphanet:2511 ICD10CM:Q87.8 OMIM:268850 UMLS:C0796142" MONDO:0024314 "The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)" "UMLS:C0242723 MESH:D018512" -MONDO:0005046 "A disorder resulting from an abnormality in the immune system." "ICD9:279 ICD9:279.4 ICD10:D89.9 DOID:2914 ICD9:279.49 ICD9:279.19 ICD9:279.10 MESH:D001327 OMIM:109100 MESH:D007154 SCTID:414029004 NCIT:C3507 EFO:0000540 ICD9:279.8 ICD9:279.1 ICD9:279.9" -MONDO:0007790 "Orphanet:64748 GARD:0009204 UMLS:C0011195 SCTID:111499002 DOID:0050540 ICD10:G60.0 OMIM:145900 NCIT:C133087" -MONDO:0013546 "A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." "OMIM:614052 GARD:0012965 Orphanet:1194 SCTID:718212006 ICD10:G71.3 MESH:C567528 DOID:0060331" -MONDO:0013743 "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." "ICD10:M32.8 Orphanet:300345 OMIM:614420 UMLS:C3280742" +MONDO:0005046 "A disorder resulting from an abnormality in the immune system." "ICD9:279 ICD9:279.4 DOID:2914 ICD9:279.49 ICD9:279.19 ICD9:279.10 MESH:D001327 OMIM:109100 ICD10CM:D80-D89 MESH:D007154 SCTID:414029004 NCIT:C3507 EFO:0000540 ICD9:279.8 ICD9:279.1 ICD9:279.9" +MONDO:0007790 "Orphanet:64748 ICD10CM:G60.0 GARD:0009204 UMLS:C0011195 SCTID:111499002 DOID:0050540 OMIM:145900 NCIT:C133087" +MONDO:0013546 "A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." "OMIM:614052 GARD:0012965 Orphanet:1194 ICD10CM:G71.3 SCTID:718212006 MESH:C567528 DOID:0060331" +MONDO:0013743 "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." "Orphanet:300345 ICD10CM:M32.8 OMIM:614420 UMLS:C3280742" GO:1904099 "Any process that stops, prevents or reduces the frequency, rate or extent of protein O-linked glycosylation." CHEBI:63510 "An EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor that interferes with the action of Na(+)/K(+)-transporting ATPase (EC 3.6.3.9)." UBERON:0015833 -MONDO:0009728 "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." "MESH:C537699 UMLS:C1855681 Orphanet:655 DOID:0111112 UMLS:CN205459 OMIM:615382 NCIT:C74998 ICD10:Q61.5 OMIM:256100 Orphanet:93592 SCTID:444830001" +MONDO:0009728 "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." "MESH:C537699 UMLS:C1855681 Orphanet:655 ICD10CM:Q61.5 DOID:0111112 UMLS:CN205459 OMIM:615382 NCIT:C74998 OMIM:256100 Orphanet:93592 SCTID:444830001" MONDO:0000499 "Orphanet:415300 UMLS:C1852242 DOID:0050864" -MONDO:0010176 "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." "DOID:0060376 ICD10:Q04.3 SCTID:721873007 MESH:C536531 OMIM:615665 OMIM:614815 Orphanet:2754 OMIM:617127 GARD:0004412 NCIT:C124841 UMLS:C2745997 OMIM:300804 OMIM:277170" -MONDO:0010674 "A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." "GARD:0006675 Orphanet:580 OMIM:309900 UMLS:C0026705 MESH:D016532 NCIT:C61260 SCTID:70737009 ICD10:E76.1 Orphanet:79388 DOID:12799 MedDRA:10056889" +MONDO:0010176 "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." "DOID:0060376 SCTID:721873007 MESH:C536531 OMIM:615665 OMIM:614815 Orphanet:2754 ICD10CM:Q04.3 OMIM:617127 GARD:0004412 NCIT:C124841 UMLS:C2745997 OMIM:300804 OMIM:277170" +MONDO:0010674 "A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." "GARD:0006675 Orphanet:580 OMIM:309900 UMLS:C0026705 MESH:D016532 NCIT:C61260 SCTID:70737009 Orphanet:79388 DOID:12799 MedDRA:10056889 ICD10CM:E76.1" http://identifiers.org/hgnc/3439 http://identifiers.org/hgnc/3438 MONDO:0004517 "A tuberculosis that involves the ureter." "ICD9:016.20 DOID:827 SCTID:81359005 UMLS:C0152800 ICD9:016.2" http://identifiers.org/hgnc/10254 -MONDO:0010652 "X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive." "SCTID:719810000 MESH:C536978 GARD:0005238 ICD10:Q87.8 Orphanet:3052 OMIM:309480" +MONDO:0010652 "X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive." "SCTID:719810000 ICD10CM:Q87.8 MESH:C536978 GARD:0005238 Orphanet:3052 OMIM:309480" MONDO:0001696 MONDO:0100310 "Cerebellar ataxia that is transmitted from parent to child." "NCIT:C140268" -MONDO:0019862 "A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation." "ICD10:Q24.1 MESH:D007979 MedDRA:10071015 NCIT:C111647 UMLS:C0023569 SCTID:205769006 Orphanet:95854 GARD:0012032" +MONDO:0019862 "A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation." "ICD10CM:Q24.1 MESH:D007979 MedDRA:10071015 NCIT:C111647 UMLS:C0023569 SCTID:205769006 Orphanet:95854 GARD:0012032" MONDO:0013670 "Orphanet:98619 OMIM:614292 UMLS:C3280346" MONDO:0001554 "Secondary glaucoma caused by either excessive size or spheric shape of the lens." "DOID:12571 SCTID:392300000 UMLS:C0339590 ICD9:365.59" MONDO:0017262 "A inherited ichthyosis that is not part of a larger syndrome." "Orphanet:281082" UBERON:0014637 -MONDO:0017507 "Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias." "Orphanet:295112 ICD10:Q71.3" +MONDO:0017507 "Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias." "ICD10CM:Q71.3 Orphanet:295112" MONDO:0044875 "A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom." "NCIT:C84478" UBERON:0015834 GO:0048260 "Any process that activates or increases the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport." -MONDO:0010539 "X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." "OMIM:301950 SCTID:719813003 MESH:C537102 Orphanet:1131 GARD:0001002 ICD10:Q75.4 UMLS:C1844918" +MONDO:0010539 "X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum." "OMIM:301950 SCTID:719813003 MESH:C537102 Orphanet:1131 GARD:0001002 ICD10CM:Q75.4 UMLS:C1844918" MONDO:0700070 "Any myopathy in which the cause of the disease is a variation in the POMT1 gene." -MONDO:0001430 "UMLS:C0155095 ICD9:370.63 ICD10:H16.44 SCTID:2102007 DOID:12087" +MONDO:0001430 "UMLS:C0155095 ICD9:370.63 SCTID:2102007 DOID:12087" MONDO:0002895 -MONDO:0001109 "Inflammation of petrous bone." "ICD9:383.20 ICD10:H70.20 UMLS:C0155448 ICD10:H70.219 ICD10:H70.229 MESH:D059270 SCTID:28593007 ICD10:H70.209 ICD9:383.2 ICD9:383.22 ICD10:H70.22 DOID:10755 ICD9:383.21 ICD10:H70.21 ICD10:H70.2" -MONDO:0013011 "Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene." "UMLS:C2748552 ICD10:Q21.1 MESH:C567561 DOID:0110110 OMIM:612794 Orphanet:1478" +MONDO:0001109 "Inflammation of petrous bone." "ICD9:383.20 UMLS:C0155448 ICD10CM:H70.2 MESH:D059270 SCTID:28593007 ICD9:383.2 ICD9:383.22 DOID:10755 ICD9:383.21" +MONDO:0013011 "Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene." "UMLS:C2748552 MESH:C567561 DOID:0110110 OMIM:612794 Orphanet:1478" GO:1905789 "Any process that activates or increases the frequency, rate or extent of detection of mechanical stimulus involved in sensory perception of touch." MONDO:0005008 "The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." "SCTID:408645001 NCIT:C5105 ONCOTREE:COADREAD UMLS:C0699790 UMLS:C1319315 SCTID:269533000 EFO:0000365 DOID:0050913 DOID:0050861" UBERON:0014636 -MONDO:0019518 "Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease." "Orphanet:897 UMLS:CN206330 OMIM:277580 ICD10:Q87.8 GARD:0005524 NCIT:C124842 OMIM:613266 OMIM:613265" +MONDO:0019518 "Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease." "Orphanet:897 ICD10CM:Q87.8 UMLS:CN206330 OMIM:277580 GARD:0005524 NCIT:C124842 OMIM:613266 OMIM:613265" GO:0045830 "Any process that activates or increases the frequency, rate or extent of isotype switching." CHEBI:6067 "A retinoic acid that is all-trans-retinoic acid in which the double bond which is alpha,beta- to the carboxy group is isomerised to Z configuration. A synthetic retinoid, it is used for the treatment of severe cases of acne and other skin diseases." MONDO:0001695 "DOID:13356 UMLS:C0155193 SCTID:71659009 ICD9:374.11" UBERON:0012239 MONDO:0021275 "A papilloma that involves the eyelid." "SCTID:314515006 UMLS:C1142491 NCIT:C4061" GO:0002759 "Any process that modulates the frequency, rate, or extent of an antimicrobial humoral response." -MONDO:0018509 "A carcinoma that arises from the small intestine. It is composed of malignant squamous cells." "NCIT:C43534 ICD10:C17.8 ICD10:C17.0 ICD10:C17.2 UMLS:CN237514 ICD10:C17.1 ICD10:C17.3 UMLS:C1710111 Orphanet:423968" +MONDO:0018509 "A carcinoma that arises from the small intestine. It is composed of malignant squamous cells." "NCIT:C43534 UMLS:CN237514 UMLS:C1710111 Orphanet:423968" PO:0025222 "A shoot apex that has as part a reproductive shoot apical meristem." http://identifiers.org/hgnc/29521 MONDO:0002150 "Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders." "UMLS:C0020655 DOID:1931 SCTID:399100005 MESH:D007027 ICD9:253.9" MONDO:0011276 "Orphanet:1991 OMIM:602966 MESH:C566419 UMLS:C1864323 DOID:0080396" MONDO:0035892 "A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease." "Orphanet:94091" MONDO:0012473 "MESH:C535681 UMLS:C1835910 GARD:0010146 OMIM:610338" -MONDO:0013424 "Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated." "ICD10:Q93.5 NCIT:C41377 OMIM:613792 Orphanet:1620 GARD:0003750 GARD:0000037 MESH:C536804 SCTID:763528002 DOID:0060417" -MONDO:0010160 "Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." "Orphanet:28378 GARD:0003105 ICD10:E70.2 NCIT:C129032 DOID:0050725 MedDRA:10069463 OMIM:276600 SCTID:4887000" +MONDO:0013424 "Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated." "NCIT:C41377 OMIM:613792 Orphanet:1620 ICD10CM:Q93.5 GARD:0003750 GARD:0000037 MESH:C536804 SCTID:763528002 DOID:0060417" +MONDO:0010160 "Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." "Orphanet:28378 ICD10CM:E70.2 GARD:0003105 NCIT:C129032 DOID:0050725 MedDRA:10069463 OMIM:276600 SCTID:4887000" MONDO:0006944 "A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved." "MESH:D000608 SCTID:35912001 MedDRA:10001939 EFO:1001149" MONDO:0005390 MONDO:0000231 "UMLS:C3532354 DOID:0050046 SCTID:472822008" MONDO:0013672 "DOID:0060396 UMLS:C3280355 OMIM:614294" FOODON:03411222 "Fish are the gill-bearing aquatic craniate animals that lack limbs with digits. Most fish are ectothermic (\"cold-blooded\"), allowing their body temperatures to vary as ambient temperatures change, though some of the large active swimmers like white shark and tuna can hold a higher core temperature."@en MONDO:0000586 "A hypersensitivity reaction type II disease that involves the exocrine system." "DOID:0060029" -MONDO:0009348 "Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells." "ICD10:C81.4 Orphanet:391 ICD10:C81.7 ONCOTREE:CHL ICD10:C81.2 NCIT:C7164 OMIM:236000 ICD10:C81.0 OMIM:400021 ICD10:C81.3 UMLS:CN204952 OMIM:300221 ICD10:C81.9 ICD10:C81.1" +MONDO:0009348 "Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells." "ICD10CM:C81.9 ONCOTREE:CHL UMLS:CN204952 NCIT:C7164 OMIM:236000 ICD10CM:C81.3 ICD10CM:C81.0 ICD10CM:C81.2 ICD10CM:C81.4 Orphanet:391 ICD10CM:C81.1 ICD10CM:C81.7 OMIM:400021 OMIM:300221" MONDO:0020570 GO:0007140 "A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the male germline." -MONDO:0010789 "MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations." "UMLS:C0162671 ICD10:G71.3 DOID:3687 Orphanet:550 MESH:D017241 OMIM:540000 ICD9:277.87 MedDRA:10053872 NCIT:C84885 SCTID:39925003 GARD:0007009 ICD10:E88.41" +MONDO:0010789 "MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations." "UMLS:C0162671 DOID:3687 Orphanet:550 ICD10CM:G71.3 MESH:D017241 OMIM:540000 ICD9:277.87 MedDRA:10053872 NCIT:C84885 ICD10CM:E88.41 SCTID:39925003 GARD:0007009" HP:0012795 "A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination." "UMLS:C3808249" -MONDO:0018984 "An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise." "SCTID:240453002 Orphanet:64692 ICD10:A44.0 NCIT:C128441 DOID:0050398 MESH:D001474 UMLS:CN205422 SCTID:262461007 UMLS:C0029307" -MONDO:0001694 "ICD10:H16.32 SCTID:17157001 ICD9:370.52 DOID:13353 UMLS:C0155089" -MONDO:0018164 "Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia." "Orphanet:357107 ICD10:G54.0 UMLS:C1956395 SCTID:8051000119105" +MONDO:0018984 "An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise." "SCTID:240453002 Orphanet:64692 NCIT:C128441 DOID:0050398 MESH:D001474 UMLS:CN205422 SCTID:262461007 UMLS:C0029307" +MONDO:0001694 "SCTID:17157001 ICD9:370.52 DOID:13353 UMLS:C0155089" +MONDO:0018164 "Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia." "ICD10CM:G54.0 Orphanet:357107 UMLS:C1956395 SCTID:8051000119105" MONDO:0003727 "An overwhelming, irrational, and persistent fear of animals." "EFO:1001876 NCIT:C35273 DOID:600" MONDO:0014595 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene." "Orphanet:3451 OMIM:616341 DOID:0080465 Orphanet:1935 UMLS:C4225360" CHEBI:33653 "Any acyclic or cyclic, saturated or unsaturated carbon compound, excluding aromatic compounds." -MONDO:0002564 "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma." "DOID:3218 NCIT:C8401 UMLS:C0022374 MESH:D007580 SCTID:126834003" +MONDO:0002564 "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma." "DOID:3218 NCIT:C8401 UMLS:C0022374 SCTID:126834003 MESH:D007580" NCBITaxon:38820 "GC_ID:1 PMID:26350789" HP:0010978 "A functional abnormality of the immune system." "UMLS:C4023616" OBI:0100051 "A material entity that has the specimen role."@en ENVO:01001205 "A process during which sediments compact under pressure, expel connate fluids, and gradually become solid sedimentary rock." GO:0002429 "A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of a cell capable of activating or perpetuating an immune response." -MONDO:0008426 "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability." "SCTID:719069008 ICD10:Q87.8 Orphanet:2462 NCIT:C124840 UMLS:C1321551 OMIM:182212 GARD:0004861" +MONDO:0008426 "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability." "ICD10CM:Q87.8 SCTID:719069008 Orphanet:2462 NCIT:C124840 UMLS:C1321551 OMIM:182212 GARD:0004861" GO:0061037 "Any process that decreases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate." MONDO:0002893 GO:0032812 "Any process that activates or increases the frequency, rate or extent of the regulated release of epinephrine." CL:0000979 "An IgG memory B cell is a class switched memory B cell that is class switched and expresses IgG on the cell surface." -MONDO:0007893 "Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features." "OMIM:613707 SCTID:111306001 UMLS:CN074218 GARD:0001100 MedDRA:10062901 Orphanet:500 MESH:D044542 UMLS:C0175704 ICD10:Q87.1 OMIM:611554 ICD9:709.09 NCIT:C84820 OMIMPS:151100 DOID:14291" -MONDO:0016244 "Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction." "NCIT:C123223 OMIM:612924 GARD:0006240 OMIM:612926 OMIM:612923 OMIM:609814 OMIM:612925 UMLS:C2931788 ICD10:D58.8 GARD:0008702 Orphanet:2134 MESH:D065766 DOID:0080301 OMIM:612922 OMIM:615008 OMIM:235400" -MONDO:0014306 "Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency." "Orphanet:404553 GARD:0012383 OMIM:615688 ICD10:M30.8" +MONDO:0007893 "Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features." "OMIM:613707 SCTID:111306001 UMLS:CN074218 GARD:0001100 MedDRA:10062901 Orphanet:500 MESH:D044542 UMLS:C0175704 ICD10CM:Q87.1 OMIM:611554 ICD9:709.09 NCIT:C84820 OMIMPS:151100 DOID:14291" +MONDO:0016244 "Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction." "NCIT:C123223 ICD10CM:D58.8 OMIM:612924 GARD:0006240 OMIM:612926 OMIM:612923 OMIM:609814 OMIM:612925 UMLS:C2931788 GARD:0008702 Orphanet:2134 MESH:D065766 DOID:0080301 OMIM:612922 OMIM:615008 OMIM:235400" +MONDO:0014306 "Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency." "ICD10CM:M30.8 Orphanet:404553 GARD:0012383 OMIM:615688" MONDO:0007541 "OMIM:131200" GO:0004370 "Catalysis of the reaction: ATP + glycerol = sn-glycerol 3-phosphate + ADP + 2 H(+)." GO:1903781 "Any process that activates or increases the frequency, rate or extent of cardiac conduction." MONDO:0044790 MONDO:0002882 "A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "UMLS:C1333097 Orphanet:100080 NCIT:C5697 DOID:4118" -MONDO:0015874 "Orphanet:180284 UMLS:CN200479 ICD10:D24" +MONDO:0015874 "Orphanet:180284 UMLS:CN200479 ICD10CM:D24" GO:2000609 "Any process that modulates the frequency, rate or extent of thyroid hormone generation." -MONDO:0018684 "Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops." "UMLS:CN205105 Orphanet:45452 ICD10:P29.1 SCTID:715560009" +MONDO:0018684 "Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops." "UMLS:CN205105 Orphanet:45452 ICD10CM:P29.1 SCTID:715560009" http://identifiers.org/hgnc/3680 ENVO:01001110 "An environmental system which includes both living and non-living components." UBERON:0012248 -MONDO:0019560 "Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy." "Orphanet:90283 GARD:0013003 NCIT:C117112 SCTID:200941006 UMLS:C0406636 ICD10:L93.2" +MONDO:0019560 "Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy." "ICD10CM:L93.2 Orphanet:90283 GARD:0013003 NCIT:C117112 SCTID:200941006 UMLS:C0406636" http://identifiers.org/hgnc/2482 -MONDO:0021396 "A polyp that involves the mammalian vulva." "ICD9:624.6 NCIT:C3978 ICD10:N84.3 SCTID:57158005 UMLS:C0269218" -MONDO:0006656 "Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders." "MedDRA:10002921 ICD10:I77.6 DOID:519 EFO:1000816 SCTID:70933002 MESH:D001025 NCIT:C97085 UMLS:C0003509" +MONDO:0021396 "A polyp that involves the mammalian vulva." "ICD9:624.6 NCIT:C3978 ICD10CM:N84.3 SCTID:57158005 UMLS:C0269218" +MONDO:0006656 "Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders." "MedDRA:10002921 DOID:519 EFO:1000816 SCTID:70933002 MESH:D001025 NCIT:C97085 UMLS:C0003509" http://identifiers.org/hgnc/7121 MONDO:0002672 "A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells." "NCIT:C5535 UMLS:C1335520 DOID:3504" GO:0019724 "Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells." -MONDO:0017171 "ICD10:E76.2 UMLS:CN202600 Orphanet:276212" +MONDO:0017171 "ICD10CM:E76.2 UMLS:CN202600 Orphanet:276212" GO:0044092 "Any process that stops or reduces the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding." MONDO:0020813 "A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent." "NCIT:C6522" GO:0016778 "Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor)." PATO:0002097 "A disposition inhering in a tumour by virtue of the bearer's disposition to progress, invade surrounding tissues or metastasize." GO:1903049 "Any process that stops, prevents or reduces the frequency, rate or extent of acetylcholine-gated cation channel activity." http://identifiers.org/hgnc/3681 -MONDO:0100164 "Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." "OMIMPS:606176 Orphanet:99885 UMLS:C1833104 Orphanet:79134 DOID:0060639 SCTID:609565001 NCIT:C114902 ICD10:P70.2 UMLS:C1853564 GARD:0010457" +MONDO:0100164 "Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment." "OMIMPS:606176 Orphanet:99885 UMLS:C1833104 Orphanet:79134 DOID:0060639 SCTID:609565001 NCIT:C114902 UMLS:C1853564 GARD:0010457 ICD10CM:P70.2" UBERON:0012247 MONDO:0007543 "OMIM:131375" http://identifiers.org/hgnc/6188 @@ -2127,9 +2126,9 @@ HP:0003312 "Abnormal morphology of vertebral body." "UMLS:C1839326" PO:0006079 "A portion of meristem tissue (PO:0009013) that is part of a shoot system (PO:0009006)." "PO_GIT:583 PO_GIT:472" NCBITaxon:140564 "GC_ID:1" CHEBI:53309 "A polymer carrying multiple negative charges." -MONDO:0017770 "Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait." "UMLS:C4302956 ICD10:Q87.1 SCTID:721905000 Orphanet:3105 UMLS:CN203671" +MONDO:0017770 "Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait." "UMLS:C4302956 SCTID:721905000 ICD10CM:Q87.1 Orphanet:3105 UMLS:CN203671" CHEBI:33292 "An energy-rich substance that can be transformed with release of usable energy." -MONDO:0015394 "Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases." "Orphanet:141118 SCTID:65455002 ICD10:Q01.1" +MONDO:0015394 "Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases." "Orphanet:141118 SCTID:65455002" MONDO:0012763 "An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene." "Orphanet:64280 OMIM:611942" UBERON:0006356 http://identifiers.org/hgnc/8583 @@ -2139,30 +2138,30 @@ UBERON:0012246 http://identifiers.org/hgnc/18505 CL:0000789 "A T cell that expresses an alpha-beta T cell receptor complex." MONDO:0000524 "A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle." "DOID:0050907" -MONDO:0006722 "A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel." "SCTID:30265004 ICD10:K00.3 NCIT:C85059 DOID:13711 EFO:1000892 UMLS:C0026618 ICD9:520.3 MESH:D009050 MedDRA:10016819" +MONDO:0006722 "A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel." "SCTID:30265004 NCIT:C85059 DOID:13711 EFO:1000892 UMLS:C0026618 ICD10CM:K00.3 ICD9:520.3 MESH:D009050 MedDRA:10016819" FOODON:00003194 "A food product not including meat and animal tissue products (such as gelatin or animal-derived rennet)."@en -MONDO:0000645 "A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma." "ICD10:D28.2 MedDRA:10053865 Orphanet:180237 NCIT:C4517 UMLS:C0346190 DOID:0060111 SCTID:92100009" +MONDO:0000645 "A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma." "MedDRA:10053865 Orphanet:180237 NCIT:C4517 UMLS:C0346190 DOID:0060111 ICD10CM:D28.2 SCTID:92100009" MONDO:0003722 "A meningioma that affects the internal auditory canal." "UMLS:C1334227 NCIT:C5307 DOID:5990" CL:0000064 "A cell that has a filiform extrusion of the cell surface." "XAO:0000031 VHOG:0001532" http://identifiers.org/hgnc/3683 -MONDO:0013435 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene." "DOID:0110623 Orphanet:244 UMLS:C3151137 OMIM:613808 ICD10:Q34.8" +MONDO:0013435 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene." "DOID:0110623 Orphanet:244 UMLS:C3151137 OMIM:613808" UBERON:0006355 http://identifiers.org/hgnc/1020 -MONDO:0016270 "Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop." "ICD10:C54.2 ICD10:C54.0 ICD10:C54.3 ICD10:C54.1 Orphanet:213736 ICD10:C54.8 UMLS:CN201059" +MONDO:0016270 "Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop." "ICD10CM:C54.2 ICD10CM:C54.8 Orphanet:213736 ICD10CM:C54.3 ICD10CM:C54.0 UMLS:CN201059 ICD10CM:C54.1" MONDO:0003655 "A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion." "NCIT:C7611 UMLS:C0240803 DOID:5815 SCTID:276836002" MONDO:0004742 "A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked." "SCTID:23732000 DOID:9277 ICD9:334.2 UMLS:C0033132" -MONDO:0013644 "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene." "GARD:0012434 Orphanet:284232 ICD10:G60.0 UMLS:C3280220 DOID:0110175 OMIM:614228" +MONDO:0013644 "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene." "GARD:0012434 Orphanet:284232 ICD10CM:G60.0 UMLS:C3280220 DOID:0110175 OMIM:614228" http://identifiers.org/hgnc/6186 MONDO:0011290 "OMIM:603133 MESH:C566408 UMLS:C1864183" -MONDO:0010315 "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." "NCIT:C4682 SCTID:203592006 ICD10:D81.2 OMIM:300400 Orphanet:276 EFO:0005555 DOID:0060013 GARD:0005618" +MONDO:0010315 "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." "NCIT:C4682 EFO:0005555 DOID:0060013 OMIM:300400 GARD:0005618 SCTID:203592006 Orphanet:276 ICD10CM:D81.2" UBERON:0005157 UBERON:0009955 http://identifiers.org/hgnc/24872 GO:0050871 "Any process that activates or increases the frequency, rate or extent of B cell activation." NCBITaxon:119088 "GC_ID:1" NCBITaxon:10088 "GC_ID:1" -MONDO:0017774 "A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol." "MESH:D006995 UMLS:C0020597 Orphanet:426 Orphanet:31154 DOID:1390 SCTID:190786004 ICD10:E78.6" -MONDO:0013359 "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." "OMIM:613677 GARD:0012362 UMLS:C3838758 Orphanet:251274 UMLS:C3150933 ICD10:E26.0 SCTID:703234002" +MONDO:0017774 "A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol." "MESH:D006995 ICD10CM:E78.6 UMLS:C0020597 Orphanet:426 Orphanet:31154 DOID:1390 SCTID:190786004" +MONDO:0013359 "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." "ICD10CM:E26.0 OMIM:613677 GARD:0012362 UMLS:C3838758 Orphanet:251274 UMLS:C3150933 SCTID:703234002" GO:0002277 "The change in morphology and behavior of a myeloid dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response." SO:0001254 "A kind of chromosome variation where the chromosome complement is an exact multiple of the haploid number and is greater than the diploid number." CHEBI:33674 "An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element." @@ -2173,9 +2172,9 @@ http://identifiers.org/hgnc/4883 http://identifiers.org/hgnc/2220 UBERON:0035495 GO:0045653 "Any process that stops, prevents, or reduces the frequency, rate or extent of megakaryocyte differentiation." -MONDO:0007712 "Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported." "Orphanet:2549 SCTID:726722009 GARD:0003653 ICD10:Q75.8 UMLS:C0265240 OMIM:141400" +MONDO:0007712 "Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported." "Orphanet:2549 SCTID:726722009 ICD10CM:Q75.8 GARD:0003653 UMLS:C0265240 OMIM:141400" MONDO:0600026 "A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae." -MONDO:0021178 "Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity." "EFO:0000546 ICD10:S00.T98 MESH:D014947 NCIT:C3671" +MONDO:0021178 "Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity." "ICD10CM:S60-S69 MESH:D014947 ICD10CM:S00-T98 ICD10CM:T33-T34 ICD10CM:S40-S49 ICD10CM:S50-S59 ICD10CM:S10-S19 ICD10CM:S00-T88 ICD10CM:T14-T14 ICD10CM:S80-S89 ICD10CM:S90-S99 NCIT:C3671 EFO:0000546 ICD10CM:S20-S29 ICD10CM:S00-S09 ICD10CM:S30-S39 ICD10CM:T07-T07 ICD10CM:S70-S79" HP:0002027 "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen." "UMLS:C0000737 MSH:D015746 MEDDRA:10000081 SNOMEDCT_US:21522001" MONDO:0024339 "A neoplasm involving a lymph node." "GARD:0006932 NCIT:C35497" http://identifiers.org/hgnc/8582 @@ -2191,7 +2190,7 @@ HP:0011043 "An abnormal concentration of corticotropin in the blood." "UMLS:C402 MONDO:0001138 "A angiodysplasia that involves the intestine." "DOID:10846 ICD9:569.84 SCTID:235853006 ICD9:569.85 UMLS:C0267367" HP:0033354 "Any deviation from the normal concentration of a metabolite in urine." MONDO:0006341 -MONDO:0007934 "Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration." "OMIM:153870 Orphanet:251287 MESH:C537833 ICD10:H35.5 SCTID:719520001 UMLS:C4304667 GARD:0009887" +MONDO:0007934 "Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration." "OMIM:153870 Orphanet:251287 MESH:C537833 SCTID:719520001 UMLS:C4304667 GARD:0009887 ICD10CM:H35.5" GO:0045652 "Any process that modulates the frequency, rate or extent of megakaryocyte differentiation." http://identifiers.org/hgnc/3686 http://identifiers.org/hgnc/3420 @@ -2205,7 +2204,7 @@ NCBITaxon:11020 "GC_ID:1" MONDO:0001448 MONDO:0003660 "A lymphoma that occurs in an adult." "UMLS:C1332206 NCIT:C7587 DOID:5825" MONDO:0006773 "Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells." "MESH:D018309 EFO:1000953 UMLS:C0206722" -MONDO:0016730 "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells." "GARD:0010638 SCTID:116371000119107 DOID:2426 Orphanet:251937 NCIT:C6934 ONCOTREE:GNC MESH:D005729 ICDO:9492/0 UMLS:C0017075 UMLS:CN201978 ICD10:D36.1" +MONDO:0016730 "A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells." "GARD:0010638 ICD10CM:D36.1 SCTID:116371000119107 DOID:2426 Orphanet:251937 NCIT:C6934 ONCOTREE:GNC MESH:D005729 ICDO:9492/0 UMLS:C0017075 UMLS:CN201978" MONDO:0000599 "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition." "DOID:0060047" CL:0002507 "A dermal dendritic cell isolated from skin draining lymph nodes that is langerin-positive, MHC-II-positive, and CD4-negative and CD8a-negative." GO:1903770 "Any process that stops, prevents or reduces the frequency, rate or extent of beta-galactosidase activity." @@ -2214,17 +2213,17 @@ CL:0000670 "A primordial germ cell is a diploid germ cell precursors that transi http://identifiers.org/hgnc/21014 UBERON:0012241 http://identifiers.org/hgnc/3687 -MONDO:0001260 "An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin." "ICD9:120.3 ICD9:709.8 SCTID:238534006 UMLS:C4282208 UMLS:C0546996 DOID:11302 ICD10:B65.3 GARD:0009747 NCIT:C128349" +MONDO:0001260 "An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin." "ICD9:120.3 ICD9:709.8 SCTID:238534006 UMLS:C4282208 UMLS:C0546996 DOID:11302 GARD:0009747 ICD10CM:B65.3 NCIT:C128349" MONDO:0010093 "MESH:C537869 UMLS:C2931647 OMIM:272450 Orphanet:2654" MONDO:0012490 "UMLS:C1864877 OMIM:610427 Orphanet:215" NCBITaxon:29105 "GC_ID:1" PATO:0000069 "A quality inhering in a bearer by virtue of the whether the bearer differs from normal or average." http://identifiers.org/hgnc/28570 -MONDO:0019127 "Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes." "MESH:D017285 ICD10:M33.2 MedDRA:10036102 NCIT:C26925 UMLS:C0085655 SCTID:31384009 GARD:0007425 ICD9:710.4 Orphanet:732 Wikipedia:Polymyositis EFO:0003063" +MONDO:0019127 "Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes." "MESH:D017285 MedDRA:10036102 NCIT:C26925 ICD10CM:M33.2 UMLS:C0085655 SCTID:31384009 GARD:0007425 ICD9:710.4 Orphanet:732 Wikipedia:Polymyositis EFO:0003063" NCBITaxon:119089 "GC_ID:1" -MONDO:0020383 "Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported." "Orphanet:99004 UMLS:CN207257 ICD10:H35.5" +MONDO:0020383 "Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported." "Orphanet:99004 ICD10CM:H35.5 UMLS:CN207257" MONDO:0003109 "A meningioma that affects the foramen magnum." "UMLS:C1333630 DOID:4708 NCIT:C5280" -MONDO:0018376 "Orphanet:399180 ICD10:M87.3 ICD10:M87.1" +MONDO:0018376 "ICD10CM:M87.3 Orphanet:399180 ICD10CM:M87.1" MONDO:0024254 MONDO:0009944 "MESH:C562561 SCTID:27729002 ICD9:750.7 OMIM:265950" MONDO:0018110 "Orphanet:35064 UMLS:CN776879" @@ -2238,16 +2237,16 @@ PATO:0000411 "A shape quality inhering in a bearer by virtue of the bearer's bei CHEBI:16914 "A monohydroxybenzoic acid that is benzoic acid with a hydroxy group at the ortho position. It is obtained from the bark of the white willow and wintergreen leaves." CL:0002024 "A megakaryocyte progenitor cell that is Kit-positive, CD41-positive, CD9-positive, Sca-1-negative, IL7ralpha-negative, CD150-negative, and Fcgamma receptor II/III-low." MONDO:0021065 "A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura." "NCIT:C3332 SCTID:126719004 ONCOTREE:PLEURA UMLS:C0032229" -MONDO:0012096 "Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." "UMLS:C4304673 SCTID:719513008 DOID:0110174 UMLS:C1837552 GARD:0012432 Orphanet:99945 OMIM:608673 ICD10:G60.0" -MONDO:0004667 "A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas." "SCTID:363381003 ICD9:142.2 DOID:8849 UMLS:C0153361 NCIT:C3527 ICD10:C08.1" -MONDO:0012268 "A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood." "SCTID:62479008 NCIT:C2851 ICD10:B20 EFO:0000765 DOID:635 MESH:D000163" +MONDO:0012096 "Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." "UMLS:C4304673 SCTID:719513008 DOID:0110174 ICD10CM:G60.0 UMLS:C1837552 GARD:0012432 Orphanet:99945 OMIM:608673" +MONDO:0004667 "A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas." "ICD9:142.2 SCTID:363381003 DOID:8849 UMLS:C0153361 NCIT:C3527" +MONDO:0012268 "A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood." "SCTID:62479008 NCIT:C2851 EFO:0000765 DOID:635 MESH:D000163" MONDO:0005290 "A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma." "SCTID:240131006 NCIT:C118318 EFO:0003867 HP:0003201 MESH:D012206 ICD9:728.88" -MONDO:0009620 "Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation." "Orphanet:3132 OMIM:251240 SCTID:721903007 ICD10:Q87.8 GARD:0000239 MESH:C536618" +MONDO:0009620 "Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation." "Orphanet:3132 OMIM:251240 SCTID:721903007 GARD:0000239 ICD10CM:Q87.8 MESH:C536618" MONDO:0004510 "A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates." "NCIT:C6508 DOID:8233 UMLS:C1370890" UBERON:0012240 MONDO:0015616 "Orphanet:165655 UMLS:CN199992" -MONDO:0013427 "UMLS:C3151088 Orphanet:391311 ICD10:D84.8 OMIM:613796" -MONDO:0016543 "Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine." "OMIM:261640 SCTID:68528007 OMIM:261630 OMIM:233910 Orphanet:238583 OMIM:264070 GARD:0007751 UMLS:C0751435 ICD10:E70.1" +MONDO:0013427 "UMLS:C3151088 ICD10CM:D84.8 Orphanet:391311 OMIM:613796" +MONDO:0016543 "Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine." "ICD10CM:E70.1 OMIM:261640 SCTID:68528007 OMIM:261630 OMIM:233910 Orphanet:238583 OMIM:264070 GARD:0007751 UMLS:C0751435" UBERON:0003856 MONDO:0005074 "A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present." "NCIT:C3777 ICDO:8450/3 GARD:0010162 MESH:D018283 UMLS:C0206700 EFO:0000639 DOID:3110" MONDO:0012229 "MESH:C563759 UMLS:C1836504 OMIM:609258" @@ -2258,8 +2257,8 @@ http://identifiers.org/hgnc/12407 MONDO:0016813 MONDO:0018377 "Orphanet:399185 UMLS:CN205038" MONDO:0006406 "A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present." "DOID:4015 MESH:D002277 ICDO:8032/3 NCIT:C27004 ICDO:8033/3 UMLS:C0205697 EFO:1000520" -MONDO:0018111 "ICD10:A40.3 Orphanet:35065" -MONDO:0014028 "Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature." "GARD:0013059 UMLS:C3554415 DOID:0111594 Orphanet:329457 OMIM:615065 ICD10:Q68.8" +MONDO:0018111 "ICD10CM:A40.3 Orphanet:35065" +MONDO:0014028 "Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature." "ICD10CM:Q68.8 GARD:0013059 UMLS:C3554415 DOID:0111594 Orphanet:329457 OMIM:615065" MONDO:0000248 "A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth." "MESH:D019595 UMLS:C0376300 DOID:0050125 SCTID:409671005" UBERON:0003858 GO:0060606 "Creation of the central hole of a tube in an anatomical structure by sealing the edges of an epithelial fold." @@ -2267,20 +2266,20 @@ UBERON:0005154 FOODON:03430131 "Refers to natural or formed shape as appropriate, regardless of size, which may vary from very large (e.g., beef carcass) to very small (e.g., poppy seed, yeast cell)."@en GO:0003073 "The process that modulates the force with which blood travels through the systemic arterial circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure." MONDO:0025085 "Inflammation of the liver in animals due to viral infection." "MESH:D006524" -MONDO:0012733 "Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." "UMLS:C3888198 DOID:0050662 OMIM:611809 Orphanet:139455 SCTID:723828008 MESH:C567518 ICD10:H35.5 UMLS:C2678493" +MONDO:0012733 "Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." "UMLS:C3888198 DOID:0050662 OMIM:611809 Orphanet:139455 ICD10CM:H35.5 SCTID:723828008 MESH:C567518 UMLS:C2678493" GO:0032223 "Any process that stops, prevents, or reduces the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine." MONDO:0014116 "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene." "UMLS:C3809013 DOID:0090133 OMIM:615282" -MONDO:0019648 "Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2." "OMIMPS:200600 MESH:C579878 SCTID:2391001 OMIM:600972 MedDRA:10066122 Orphanet:932 NCIT:C84527 GARD:0002882 OMIM:200600 UMLS:C0001079 ICD10:Q77.0 DOID:0080043 OMIM:200610" +MONDO:0019648 "Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2." "OMIMPS:200600 MESH:C579878 ICD10CM:Q77.0 SCTID:2391001 OMIM:600972 MedDRA:10066122 Orphanet:932 NCIT:C84527 GARD:0002882 OMIM:200600 UMLS:C0001079 DOID:0080043 OMIM:200610" GO:1905292 "Any process that modulates the frequency, rate or extent of neural crest cell differentiation." MONDO:0015615 "Orphanet:165652 UMLS:CN199991" MONDO:0019696 "A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type" "OMIM:602875 Orphanet:93437 OMIMPS:602875 MESH:C535658 DOID:0080049 GARD:0000006" MONDO:0003332 "An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion)." "NCIT:C4291 DOID:5208 UMLS:C0334525 ICDO:9090/3" -MONDO:0001542 "A peripheral nerve lesion that involves the common fibular nerve." "ICD10:G57.30 ICD10:G57.3 DOID:12527 ICD9:355.3 UMLS:C0270909 SCTID:399107008" +MONDO:0001542 "A peripheral nerve lesion that involves the common fibular nerve." "DOID:12527 ICD9:355.3 UMLS:C0270909 SCTID:399107008" http://identifiers.org/hgnc/319 http://identifiers.org/hgnc/7128 -MONDO:0018374 "Orphanet:399169 ICD10:M87.3 ICD10:M87.2 ICD10:M87.1" +MONDO:0018374 "ICD10CM:M87.1 ICD10CM:M87.3 ICD10CM:M87.2 Orphanet:399169" MONDO:0024252 "Orphanet:488613" -MONDO:0012783 "RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1)." "OMIM:612015 DOID:0080566 SCTID:733084000 MESH:C567437 UMLS:C2677590 ICD10:E77.8 GARD:0012394 Orphanet:244310" +MONDO:0012783 "RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1)." "OMIM:612015 DOID:0080566 SCTID:733084000 MESH:C567437 UMLS:C2677590 ICD10CM:E77.8 GARD:0012394 Orphanet:244310" UBERON:0035498 UBERON:0003859 CHEBI:59560 "A tetrahydropterin that is 2-amino-5,6,7,8-tetrahydropteridin-4(3H)-one in which a hydrogen at position 6 is substituted by a 1,2-dihydroxypropyl group (6R,1'R,2'S-enantiomer)." @@ -2297,22 +2296,22 @@ http://identifiers.org/hgnc/318 http://identifiers.org/hgnc/7127 CL:1000279 "A smooth muscle cell that is part of the large intestine." "FMA:15653" MONDO:0009941 "OMIM:265850 UMLS:C1849524" -MONDO:0018375 "Orphanet:399175 ICD10:M87.2" +MONDO:0018375 "Orphanet:399175" MONDO:0024253 -MONDO:0019095 "Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis." "MESH:D010930 MedDRA:10035148 ICD9:136.8 SCTID:58750007 ICD10:A20.8 MedDRA:10061416 Orphanet:707 MESH:D015009 ICD10:A20 ICD10:A20.9 ICD10:A20.7 ICD9:020 ICD10:A20.2 ICD10:A20.3 NCIT:C85015 ICD10:A20.0 UMLS:C0032064 DOID:3482 ICD10:A20.1 ICD9:020.9" +MONDO:0019095 "Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis." "MESH:D010930 ICD9:136.8 MedDRA:10035148 SCTID:58750007 ICD10CM:A20.7 MedDRA:10061416 ICD10CM:A20.2 ICD10CM:A20.9 Orphanet:707 MESH:D015009 ICD10CM:A20 ICD9:020 ICD10CM:A20.0 ICD10CM:A20.1 NCIT:C85015 ICD10CM:A20.3 UMLS:C0032064 DOID:3482 ICD10CM:A20.8 ICD9:020.9" UBERON:0005156 MONDO:0021370 "A neoplasm (disease) that involves the minor salivary gland." "SCTID:126798006 UMLS:C0345613 NCIT:C4409" GO:0008047 "Binds to and increases the activity of an enzyme." UBERON:0010948 GO:0044270 "The chemical reactions and pathways resulting in the breakdown of organic and inorganic nitrogenous compounds." -MONDO:0006560 "Reduced sweating. Causes include burns, dehydration, radiation, and leprosy." "Wikipedia:Hypodidrosis EFO:1000712 ICD10:L74.4 DOID:11155 UMLS:C0020620 HP:0000966 NCIT:C34718 MESH:D007007 SCTID:45004005" +MONDO:0006560 "Reduced sweating. Causes include burns, dehydration, radiation, and leprosy." "Wikipedia:Hypodidrosis EFO:1000712 ICD10CM:L74.4 DOID:11155 UMLS:C0020620 HP:0000966 NCIT:C34718 MESH:D007007 SCTID:45004005" MONDO:0003222 "A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion." "DOID:4955 EFO:1000493 NCIT:C5504 SCTID:277523004 UMLS:C1332887" MONDO:0003120 "A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma." "UMLS:C1336720 DOID:4743 NCIT:C6347 ONCOTREE:MGCT" GO:0090274 "Any process that increases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas." MONDO:0015879 "Orphanet:180776" -MONDO:0010966 "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." "GARD:0000460 Orphanet:932 DOID:0080055 OMIM:600972 Orphanet:93298 ICD10:Q77.0" -MONDO:0009006 "Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion." "DOID:0060295 ICD10:D84.1 UMLS:C3150275 NCIT:C119992 OMIM:217000 Orphanet:169147 GARD:0001452" -MONDO:0018203 "A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies." "ICD10:E34.8 Orphanet:363618 UMLS:CN204714" +MONDO:0010966 "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage." "GARD:0000460 Orphanet:932 DOID:0080055 OMIM:600972 Orphanet:93298 ICD10CM:Q77.0" +MONDO:0009006 "Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion." "DOID:0060295 UMLS:C3150275 NCIT:C119992 OMIM:217000 Orphanet:169147 GARD:0001452" +MONDO:0018203 "A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies." "Orphanet:363618 ICD10CM:E34.8 UMLS:CN204714" MONDO:0000963 "A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections." "DOID:10187 UMLS:C1333455 NCIT:C5701" MONDO:0002561 "A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins." "MESH:D016464 UMLS:C0085078 SCTID:23585005 Orphanet:68366 NCIT:C61250 DOID:3211 UMLS:CN205533" http://identifiers.org/hgnc/317 @@ -2321,15 +2320,15 @@ CL:0002113 "A B220-low CD38-negative unswitched memory B cell is a CD38-negative MONDO:0007545 "OMIM:131430 UMLS:C1851586" UBERON:0010949 GO:0099023 "Any protein complex that plays a role in vesicle tethering." -MONDO:0007381 "Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." "OMIM:122400 DOID:0070337 SCTID:715908008 Orphanet:293381 ICD10:H18.5 MESH:C565155 UMLS:C1852551" -MONDO:0015388 "Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair." "SCTID:716279002 Orphanet:141091 ICD10:Q30.8" +MONDO:0007381 "Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." "OMIM:122400 DOID:0070337 ICD10CM:H18.5 SCTID:715908008 Orphanet:293381 MESH:C565155 UMLS:C1852551" +MONDO:0015388 "Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair." "ICD10CM:Q30.8 SCTID:716279002 Orphanet:141091" GO:0050968 "The series of events involved in the perception of pain in which a chemical stimulus is received and converted into a molecular signal." http://identifiers.org/hgnc/16369 GO:0042754 "Any process that stops, prevents, or reduces the frequency, rate or extent of a circadian rhythm behavior." CHEBI:26835 MONDO:0015878 "UMLS:CN200486 Orphanet:180772" MONDO:0021525 "A benign neoplasm that involves the body of uterus." "SCTID:92021007 UMLS:C0153998 NCIT:C3608 ICD9:219.1" -MONDO:0011116 "Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." "UMLS:C0265780 SCTID:721976003 ICD10:Q87.8 OMIM:601612 Orphanet:1120 GARD:0003378 MESH:C535708" +MONDO:0011116 "Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies." "UMLS:C0265780 SCTID:721976003 ICD10CM:Q87.8 OMIM:601612 Orphanet:1120 GARD:0003378 MESH:C535708" UBERON:0001457 MONDO:0018372 UBERON:0003852 @@ -2337,14 +2336,14 @@ NCBITaxon:6448 "GC_ID:1" MONDO:0006231 "A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps." "UMLS:C3272802 NCIT:C96475 EFO:1000280" UBERON:0035237 MONDO:0007546 "OMIM:131440 MESH:C565054 UMLS:C1851585 DOID:0111344 Orphanet:86830" -MONDO:0009947 "UMLS:C0398746 Orphanet:289846 SCTID:39112005 ICD10:D55.1 ICD9:270.8 Orphanet:32 OMIM:266130" +MONDO:0009947 "UMLS:C0398746 Orphanet:289846 ICD10CM:D55.1 SCTID:39112005 ICD9:270.8 Orphanet:32 OMIM:266130" MONDO:0011923 "Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene." "OMIM:607850" CHR:9606-chr11q24 GO:0050953 "The series of events required for an organism to receive a sensory light stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process." http://identifiers.org/hgnc/9788 MONDO:0015877 "Orphanet:180766 UMLS:CN200485" MONDO:0100365 "Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder." -MONDO:0008876 "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." "ICD9:757.39 ICD10:Q82.2 MESH:D001816 SCTID:4434006 Orphanet:125 OMIM:210900 NCIT:C2903 GARD:0000915 DOID:2717 UMLS:C0005859" +MONDO:0008876 "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer." "ICD9:757.39 ICD10CM:Q82.2 MESH:D001816 SCTID:4434006 Orphanet:125 OMIM:210900 NCIT:C2903 GARD:0000915 DOID:2717 UMLS:C0005859" GO:0010243 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond." ENVO:01001164 "A quality which inheres in a astronomical body or astronomical body part by virtue of the variation in its material composition, participation in geological processes, and the variation in is land- and hydroforms." GO:0033081 "Any process that modulates the frequency, rate or extent of T cell differentiation in the thymus." @@ -2353,7 +2352,7 @@ MONDO:0060486 "OMIM:617468" UBERON:0001456 MONDO:0060763 "Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene." "OMIM:618092" UBERON:0003853 -MONDO:0007702 "Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." "UMLS:C1841657 SCTID:721013001 OMIM:140450 Orphanet:1342 ICD10:Q87.2 MESH:C535853 GARD:0002614" +MONDO:0007702 "Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." "UMLS:C1841657 SCTID:721013001 ICD10CM:Q87.2 OMIM:140450 Orphanet:1342 MESH:C535853 GARD:0002614" http://identifiers.org/hgnc/315 MONDO:0000490 "A hardening of the kidney glomerulus caused by scarring of the blood vessels." "NCIT:C120888 UMLS:C0178664 SCTID:197661001 DOID:0050851" GO:1900450 "Any process that stops, prevents or reduces the frequency, rate or extent of glutamate receptor signaling pathway." @@ -2362,29 +2361,29 @@ MONDO:0014781 "Any combined oxidative phosphorylation deficiency in which the ca MONDO:0100377 "Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)" "NCIT:C132102 NCIT:C132101" MONDO:0021481 "A benign neoplasm that involves the submandibular gland." "UMLS:C0685988 NCIT:C4891 SCTID:92415001" http://identifiers.org/hgnc/2481 -MONDO:0002258 "Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma." "ICD9:478.20 SCTID:405737000 ICD10:J02 NCIT:C26851 DOID:2275 ICD10:J02.9 MESH:D010612 ICD9:462 ICD9:472 UMLS:C0031350" +MONDO:0002258 "Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma." "ICD9:472 DOID:2275 SCTID:405737000 UMLS:C0031350 NCIT:C26851 ICD9:462 MESH:D010612 ICD9:478.20" MONDO:0024496 "A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated." "NCIT:C94678" http://identifiers.org/hgnc/30764 -MONDO:0017172 "Orphanet:276223 ICD10:E76.2 UMLS:CN202601" +MONDO:0017172 "Orphanet:276223 ICD10CM:E76.2 UMLS:CN202601" MONDO:0004557 "A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes." "UMLS:C0334459 SCTID:403996004 ONCOTREE:IFS ICD9:171.9 DOID:8418 NCIT:C4244 ICDO:8814/3" UBERON:0005151 MONDO:0015876 "UMLS:CN200482 Orphanet:180312" CHEBI:26833 -MONDO:0009983 "Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993." "OMIM:268020 UMLS:C1849401 Orphanet:3085 GARD:0004683 MESH:C564841 ICD10:Q87.8" +MONDO:0009983 "Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993." "OMIM:268020 UMLS:C1849401 Orphanet:3085 GARD:0004683 ICD10CM:Q87.8 MESH:C564841" MONDO:0001646 "Mild to moderate high blood pressure that is caused by an underlying medical condition." "UMLS:C0155620 ICD9:405.1 DOID:13143 SCTID:194785008 ICD9:405.19 NCIT:C3658" UBERON:0003854 MONDO:0020639 "A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number." "MESH:D009006 NCIT:C3239" CHEBI:24431 "A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances." MONDO:0005610 "Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." "MESH:D057767 UMLS:C2745963 EFO:0006511 ICD9:716.00 SCTID:270505009 ICD9:716.08 ICD9:716.06" UBERON:0001459 -MONDO:0019886 "Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported." "SCTID:764454003 Orphanet:96105 ICD10:Q92.3" +MONDO:0019886 "Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported." "SCTID:764454003 Orphanet:96105" CL:0000569 "A mesenchymal cell found in the developing heart and that develops into some part of the heart. These cells derive from intra- and extra-cardiac sources, including the endocardium, epicardium, neural crest, and second heart field." MONDO:0021250 "A neoplasm (disease) that involves the tonsil." "SCTID:127227003 NCIT:C3417" MONDO:0060489 "DOID:0111764 OMIM:617480" http://identifiers.org/hgnc/18501 http://identifiers.org/hgnc/30765 MONDO:0025517 "OBSOLETE. A allergic disease involving a shrimp food product." "DOID:0040001" -MONDO:0006143 "A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." "Orphanet:213767 NCIT:C4028 ONCOTREE:CESC UMLS:C0279671 EFO:1000172 ICD10:C53.8 DOID:3744 ICD10:C53.1 ICD10:C53.0 SCTID:254886006" +MONDO:0006143 "A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis." "Orphanet:213767 NCIT:C4028 ONCOTREE:CESC ICD10CM:C53.1 UMLS:C0279671 EFO:1000172 ICD10CM:C53.0 ICD10CM:C53.8 DOID:3744 SCTID:254886006" MONDO:0015875 "Orphanet:180303 UMLS:CN200481" GO:0090324 "Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis." CL:0002027 "A megakaryocyte cell with is CD9-positive and CD41-positive." @@ -2392,36 +2391,36 @@ CL:0000636 "Astrocyte-like radial glial cell that extends vertically throughout UBERON:0003855 MONDO:0014858 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene." "SCTID:765434008 UMLS:C4310771 DOID:0070073 OMIM:616977 GARD:0013179" UBERON:0001458 -MONDO:0017720 "A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." "UMLS:C0039373 DOID:3321 ICD10:E75.0 MESH:D020143 GARD:0002522 Orphanet:309152 SCTID:33316007 ICD10:E75.00 UMLS:C0268274" -MONDO:0001463 "A malignant neoplasm involving the splenic flexure of colon." "SCTID:363413005 UMLS:C0153440 ICD10:C18.5 DOID:12191 ICD9:153.7" +MONDO:0017720 "A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS." "UMLS:C0039373 DOID:3321 ICD10CM:E75.0 MESH:D020143 GARD:0002522 Orphanet:309152 SCTID:33316007 UMLS:C0268274" +MONDO:0001463 "A malignant neoplasm involving the splenic flexure of colon." "SCTID:363413005 UMLS:C0153440 DOID:12191 ICD9:153.7" MONDO:0011512 "Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma." "OMIM:612099 DOID:0050693 Orphanet:79493 OMIM:601606 GARD:0010179 OMIM:132700 MESH:C536611 OMIM:605041 SCTID:703531009 UMLS:C1857941 ICD9:239.2" -MONDO:0018371 "Orphanet:399103 ICD10:G71.0" +MONDO:0018371 "Orphanet:399103 ICD10CM:G71.0" MONDO:0023059 "GARD:0000189 MESH:C536204 UMLS:C2931128" MONDO:0005161 "An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth." "EFO:0001668 UMLS:C0343641 NCIT:C27851 ICD9:079.4 SCTID:240532009" -MONDO:0001372 "A malignant neoplasm involving the neck of urinary bladder." "ICD10:C67.5 DOID:11809 SCTID:188244007 ICD9:188.5" -MONDO:0015088 "Autosomal dominant form of pure hereditary spastic paraplegia." "Orphanet:100980 ICD10:G11.4 UMLS:CN226594" +MONDO:0001372 "A malignant neoplasm involving the neck of urinary bladder." "DOID:11809 SCTID:188244007 ICD9:188.5" +MONDO:0015088 "Autosomal dominant form of pure hereditary spastic paraplegia." "Orphanet:100980 ICD10CM:G11.4 UMLS:CN226594" HP:0002059 "Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum." "SNOMEDCT_US:52522001 UMLS:C0154671 SNOMEDCT_US:418143002 UMLS:C0235946 UMLS:C4020860 SNOMEDCT_US:278849000" -MONDO:0020301 "ICD10:Q87.1 Orphanet:98793 UMLS:CN207115" +MONDO:0020301 "Orphanet:98793 UMLS:CN207115 ICD10CM:Q87.1" MONDO:0024797 "A brainstem neoplasm that occurs in an adult." "UMLS:C1332192 NCIT:C5967" -MONDO:0018493 "Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat." "Orphanet:423 OMIM:145600 MESH:D008305 OMIM:601888 SCTID:405501007 OMIM:154276 UMLS:C0024591 OMIM:600467 NCIT:C84869 DOID:8545 MedDRA:10020844 OMIM:154275 ICD9:995.86 OMIM:601887 HP:0002047 OMIMPS:145600 ICD10:T88.3" -MONDO:0008745 "Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." "ICD9:270.2 SCTID:6483008 ICD10:E70.3 Orphanet:79431 Orphanet:352731 DOID:0070094 OMIM:203100" +MONDO:0018493 "Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat." "Orphanet:423 OMIM:145600 MESH:D008305 OMIM:601888 SCTID:405501007 OMIM:154276 UMLS:C0024591 OMIM:600467 NCIT:C84869 DOID:8545 MedDRA:10020844 OMIM:154275 ICD9:995.86 OMIM:601887 HP:0002047 OMIMPS:145600" +MONDO:0008745 "Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." "ICD9:270.2 SCTID:6483008 Orphanet:79431 Orphanet:352731 DOID:0070094 OMIM:203100 ICD10CM:E70.3" HP:0011035 "An abnormality of the cortex of the kidney." "UMLS:C4023580" MONDO:0018118 "UMLS:CN227265 Orphanet:352306" -MONDO:0021562 "Inflammation of the umbilical cord stump in newborns." "NCIT:C116008 SCTID:239095007 UMLS:C0028992 GTR:AN0533760" -MONDO:0011547 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene." "ICD10:Q12.0 DOID:0110265 Orphanet:98993 OMIM:605387 MESH:C535343 GARD:0010227 Orphanet:91492" +MONDO:0021562 "Inflammation of the umbilical cord stump in newborns." "ICD10CM:P35-P39 NCIT:C116008 SCTID:239095007 UMLS:C0028992 GTR:AN0533760" +MONDO:0011547 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene." "DOID:0110265 Orphanet:98993 OMIM:605387 MESH:C535343 GARD:0010227 Orphanet:91492" MONDO:0018771 "A congenital heart malformation that involves the interventricular septum." "Orphanet:474347" http://identifiers.org/hgnc/29515 UBERON:5103631 -MONDO:0001734 "Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade." "SCTID:7199000 ICD9:759.5 NCIT:C3424 ICD10:Q85.1 OMIM:191100 OMIMPS:191100 MESH:D014402 OMIM:613254 DOID:13515" +MONDO:0001734 "Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade." "SCTID:7199000 ICD9:759.5 NCIT:C3424 OMIM:191100 OMIMPS:191100 MESH:D014402 OMIM:613254 DOID:13515" http://identifiers.org/hgnc/10004 http://identifiers.org/hgnc/12665 MONDO:0017394 "Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients." "Orphanet:293807 UMLS:C4512018 SCTID:726613003 UMLS:CN227122" -MONDO:0009561 "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." "MESH:D008363 ICD10:E77.1 UMLS:C0024748 GARD:0006968 Orphanet:61 DOID:3413 NCIT:C84548 ICD9:271.8 OMIM:248500 SCTID:65524005" -MONDO:0015448 "Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms)." "OMIM:615160 OMIM:615824 ICD10:G71.3 OMIM:615453 OMIM:615157 OMIM:615159 Orphanet:1460 OMIM:616111 OMIM:615838 DOID:0111139 OMIM:615158 OMIM:124000" -MONDO:0020568 "UMLS:C0027031 SCTID:240877000 ICD10:B87.0 Orphanet:99983" +MONDO:0009561 "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." "MESH:D008363 UMLS:C0024748 ICD10CM:E77.1 GARD:0006968 Orphanet:61 DOID:3413 NCIT:C84548 ICD9:271.8 OMIM:248500 SCTID:65524005" +MONDO:0015448 "Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms)." "OMIM:615160 OMIM:615824 OMIM:615453 OMIM:615157 OMIM:615159 Orphanet:1460 ICD10CM:G71.3 OMIM:616111 OMIM:615838 DOID:0111139 OMIM:615158 OMIM:124000" +MONDO:0020568 "ICD10CM:B87.0 UMLS:C0027031 SCTID:240877000 Orphanet:99983" MONDO:0002261 "Any disorder of the cornea." "DOID:2283 UMLS:C0235270 NCIT:C27012" MONDO:0012487 "Orphanet:2850 GARD:0004291 OMIM:610422 DOID:0080629 MESH:C563668 UMLS:C1835852" -MONDO:0020302 "ICD10:Q93.5 UMLS:CN207116 Orphanet:98794" +MONDO:0020302 "UMLS:CN207116 Orphanet:98794 ICD10CM:Q93.5" HP:0001339 "A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly." "SNOMEDCT_US:204036008 UMLS:C1879312 UMLS:C0266463 MSH:D054082" http://identifiers.org/hgnc/11201 MF:0000013 "a mental process that involves the manipulation of mental language and/or mental images" @@ -2431,103 +2430,103 @@ MONDO:0018119 "UMLS:CN227266 Orphanet:352309" MONDO:0009939 "OMIM:265600 MESH:C562895 UMLS:C0403552 SCTID:236530006" MONDO:0013795 "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene." "OMIM:614524 UMLS:C3281128 Orphanet:2021" MONDO:0011289 "OMIM:603119" -MONDO:0016528 "Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts." "SCTID:716106000 Orphanet:2369 UMLS:CN201594 ICD10:Q87.8 GARD:0003251 UMLS:C4274839" -MONDO:0017312 "Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit." "UMLS:C0685838 ICD10:Q87.8 OMIMPS:233400 Orphanet:2855 UMLS:CN239459 GARD:0002542 SCTID:93466004 OMIM:233400 DOID:0050857 OMIM:615300 OMIM:614926 OMIM:614129 OMIM:616138" +MONDO:0016528 "Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts." "SCTID:716106000 ICD10CM:Q87.8 Orphanet:2369 UMLS:CN201594 GARD:0003251 UMLS:C4274839" +MONDO:0017312 "Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit." "UMLS:C0685838 OMIMPS:233400 Orphanet:2855 UMLS:CN239459 GARD:0002542 SCTID:93466004 OMIM:233400 DOID:0050857 OMIM:615300 OMIM:614926 OMIM:614129 ICD10CM:Q87.8 OMIM:616138" MONDO:0023061 "GARD:0002106" http://identifiers.org/hgnc/12666 GO:0045828 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid." MONDO:0012488 "OMIM:610424 UMLS:C3552304" MONDO:0003124 "A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." "NCIT:C6356 EFO:1000569 UMLS:C0863027 DOID:4756 SCTID:67871000119105" -MONDO:0020303 "Orphanet:98795 ICD10:Q93.5 UMLS:CN207117" +MONDO:0020303 "Orphanet:98795 ICD10CM:Q93.5 UMLS:CN207117" CHEBI:36688 GO:0030855 "The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium." MONDO:0022960 "GARD:0001812" -MONDO:0008992 "Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." "OMIM:216100 Orphanet:2319 MESH:C537690 GARD:0003060 ICD10:Q87.0 UMLS:C0796099 SCTID:721874001" +MONDO:0008992 "Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." "OMIM:216100 Orphanet:2319 MESH:C537690 ICD10CM:Q87.0 GARD:0003060 UMLS:C0796099 SCTID:721874001" http://identifiers.org/hgnc/13861 MONDO:0010928 "GARD:0010610 MESH:C563447 UMLS:C1833341 OMIM:600771" HP:0011442 "An anomaly of the control or production of movement in the central nervous system." "UMLS:C4023354" MONDO:0009938 "GARD:0010071 HP:0001642 Orphanet:3189 OMIM:265500 UMLS:C1956257" CL:1000433 "An epithelial cell that is part of the lacrimal canaliculus." "FMA:70553" MONDO:0002404 "A hemangioma arising from the liver." "SCTID:93469006 UMLS:C0238246 NCIT:C3869 DOID:271" -MONDO:0016028 "A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders." "UMLS:C0014804 MESH:D004916 ICD9:443.82 ICD10:I73.81 DOID:9240 NCIT:C34593 ICD10:I73.8 SCTID:37151006 Orphanet:1956 MedDRA:10015284" +MONDO:0016028 "A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders." "UMLS:C0014804 MESH:D004916 ICD9:443.82 DOID:9240 NCIT:C34593 ICD10CM:I73.81 ICD10CM:I73.8 SCTID:37151006 Orphanet:1956 MedDRA:10015284" MONDO:0002452 "A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "DOID:2887 NCIT:C5544 UMLS:C1335510" GO:1901863 "Any process that activates or increases the frequency, rate or extent of muscle tissue development." -MONDO:0019084 "Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis." "Orphanet:70475 SCTID:235760009 MedDRA:10037766 ICD9:569.49 ICD10:K62.7" -MONDO:0019317 "ICD10:L98.8 UMLS:CN205972 Orphanet:79459" +MONDO:0019084 "Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis." "Orphanet:70475 SCTID:235760009 MedDRA:10037766 ICD10CM:K62.7 ICD9:569.49" +MONDO:0019317 "UMLS:CN205972 Orphanet:79459 ICD10CM:L98.8" UBERON:0003850 MONDO:0012223 "MESH:C563765 UMLS:C1836521 OMIM:609250" MONDO:0003605 "OBSOLETE. A neuroblastoma arising from the adrenal gland." GO:0002695 "Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte activation." GO:0019747 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving isoprenoids." MONDO:0014886 "OMIM:617051 Orphanet:488627 UMLS:C4310745" -MONDO:0016096 "A malignant germ cell tumor other than dysgerminoma that arises from the ovary." "Orphanet:206538 UMLS:C3640983 NCIT:C102870 UMLS:CN200863 ICD10:C56" -MONDO:0015295 "Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously." "ICD10:Q87.8 UMLS:CN226653 Orphanet:137622" +MONDO:0016096 "A malignant germ cell tumor other than dysgerminoma that arises from the ovary." "Orphanet:206538 UMLS:C3640983 ICD10CM:C56 NCIT:C102870 UMLS:CN200863" +MONDO:0015295 "Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously." "ICD10CM:Q87.8 UMLS:CN226653 Orphanet:137622" MONDO:0018117 "UMLS:CN227264 Orphanet:352301" MONDO:0010927 "DOID:0080397 MESH:C563448 OMIM:600757 UMLS:C1833369 Orphanet:1991" GO:0009791 "The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development." http://identifiers.org/hgnc/29514 MONDO:0700061 "A disease characteristic in which the cause of the disease is present in some of the cells of the organism, or in all the cells of the organism." -MONDO:0019909 "Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature." "Orphanet:96178 SCTID:763406004 GARD:0010855 ICD10:Q93.2" +MONDO:0019909 "Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature." "ICD10CM:Q93.2 Orphanet:96178 SCTID:763406004 GARD:0010855" GO:0051355 "The series of events contributing to equilibrioception by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception plays an important role in the ability of an organism to perceive its orientation with respect to gravity." MONDO:0011019 "This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism." "SCTID:720981000 Orphanet:1014 MESH:C563370 OMIM:601217" http://identifiers.org/hgnc/575 -MONDO:0019488 "A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances." "Orphanet:86913 ICD10:G40.4" +MONDO:0019488 "A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances." "ICD10CM:G40.4 Orphanet:86913" MONDO:0008739 "OMIM:202600" http://identifiers.org/hgnc/10001 -MONDO:0020401 "Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported." "Orphanet:99060 ICD10:Q23.3" -MONDO:0017151 "OBSOLETE. Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease." "EFO:0009196 UMLS:CN202578 SCTID:697903007 UMLS:C3697982 ICD10:I27.2 Orphanet:275798 ICD9:416.8" +MONDO:0020401 "Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported." "ICD10CM:Q23.3 Orphanet:99060" +MONDO:0017151 "OBSOLETE. Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease." "ICD10CM:I27.2 EFO:0009196 UMLS:CN202578 SCTID:697903007 UMLS:C3697982 Orphanet:275798 ICD9:416.8" GO:2001200 "Any process that activates or increases the frequency, rate or extent of dendritic cell differentiation." GO:1903566 "Any process that activates or increases the frequency, rate or extent of protein localization to cilium." UBERON:0003851 MONDO:0012224 "MESH:C563764 OMIM:609253 UMLS:C1836518 DOID:0111309" GO:0072507 "Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell." -MONDO:0007681 "Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene." "Orphanet:276399 ICD10:E04.2 SCTID:267369002 MESH:C562732 UMLS:CN202615 ICD9:240.0 OMIM:138800" +MONDO:0007681 "Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene." "Orphanet:276399 SCTID:267369002 MESH:C562732 UMLS:CN202615 ICD10CM:E04.2 ICD9:240.0 OMIM:138800" MONDO:0024262 "SCTID:10269001" -MONDO:0008509 "Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet." "UMLS:C1861401 ICD10:Q70.9 MESH:C566099 Orphanet:3248 OMIM:185700 HP:0100263" +MONDO:0008509 "Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet." "UMLS:C1861401 MESH:C566099 Orphanet:3248 OMIM:185700 ICD10CM:Q70.9 HP:0100263" http://identifiers.org/hgnc/13601 CHEBI:26155 "A chemical, natural or artificial, that can affect the rate of growth of a plant." MONDO:0022700 "GARD:0010446" CHEBI:28938 "An onium cation obtained by protonation of ammonia." UBERON:2001073 -MONDO:0016974 "An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma." "UMLS:C1328042 NCIT:C7114 Orphanet:263317 UMLS:CN202276 ICD10:D15.0 DOID:3282 ICD10:C37" +MONDO:0016974 "An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma." "UMLS:C1328042 NCIT:C7114 Orphanet:263317 UMLS:CN202276 ICD10CM:C37 ICD10CM:D15.0 DOID:3282" MONDO:0004122 "An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." "DOID:7142 UMLS:C1335980 EFO:1000578 NCIT:C6460" CL:0000329 http://identifiers.org/hgnc/16361 MONDO:0003017 "A malignant form of peritoneal solitary fibrous tumor." "DOID:4490" -MONDO:0019577 "OMIM:614149 MESH:C536378 OMIM:107000 ICD10:Q84.3 UMLS:C1862840 Orphanet:90390" -MONDO:0008830 "Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." "MedDRA:10068220 Orphanet:93 DOID:0050461 UMLS:C0268225 NCIT:C61273 SCTID:54954004 GARD:0005854 OMIM:208400 MESH:D054880 ICD10:E77.1" +MONDO:0019577 "OMIM:614149 MESH:C536378 ICD10CM:Q84.3 OMIM:107000 UMLS:C1862840 Orphanet:90390" +MONDO:0008830 "Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." "MedDRA:10068220 Orphanet:93 ICD10CM:E77.1 DOID:0050461 UMLS:C0268225 NCIT:C61273 SCTID:54954004 GARD:0005854 OMIM:208400 MESH:D054880" http://identifiers.org/hgnc/574 http://identifiers.org/hgnc/12403 GO:1904731 "Any process that activates or increases the frequency, rate or extent of intestinal lipid absorption." MONDO:0020564 MONDO:0014622 "OMIM:616400 Orphanet:448264 UMLS:C4225339" -MONDO:0010320 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene." "UMLS:C1419610 DOID:0110412 Orphanet:791 OMIM:300424 ICD10:H35.5 GARD:0010391" -MONDO:0010333 "Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." "MESH:C564509 DOID:0060816 Orphanet:52055 ICD10:Q87.8 GARD:0012486 SCTID:722282008 OMIM:300472" +MONDO:0010320 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene." "UMLS:C1419610 DOID:0110412 Orphanet:791 OMIM:300424 GARD:0010391" +MONDO:0010333 "Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." "MESH:C564509 DOID:0060816 Orphanet:52055 GARD:0012486 SCTID:722282008 ICD10CM:Q87.8 OMIM:300472" MONDO:0025483 "Tumors or cancer of the mammary gland in animals (mammary glands, animal)." "MESH:D015674" MONDO:0011027 "OMIM:601283 MESH:C563359 UMLS:C1832544" MONDO:0044913 "A malignant neoplasm that has spread to the eye from another anatomic site." "SCTID:94292003 UMLS:C0347019 NCIT:C4586" -MONDO:0019576 "ICD9:448.9 SCTID:8214000 MedDRA:10043192 UMLS:C0263402 ICD10:Q82.2 Orphanet:90389" +MONDO:0019576 "ICD9:448.9 SCTID:8214000 MedDRA:10043192 UMLS:C0263402 ICD10CM:Q82.2 Orphanet:90389" MONDO:0023065 -MONDO:0008650 "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters." "OMIM:192800 ICD10:Q87.5 SCTID:724064004 GARD:0002276 Orphanet:2064 UMLS:C1860464 GARD:0005487 MESH:C536344" +MONDO:0008650 "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters." "OMIM:192800 ICD10CM:Q87.5 SCTID:724064004 GARD:0002276 Orphanet:2064 UMLS:C1860464 GARD:0005487 MESH:C536344" MONDO:0003138 "A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis." "NCIT:C35801 SCTID:123609007 DOID:4782 UMLS:C1263744" http://identifiers.org/hgnc/573 -MONDO:0001340 "A malignant neoplasm involving the heart" "ICD10:C38.0 ICD9:164.1 NCIT:C3081 DOID:117 NCIT:C3548 MESH:D006338" +MONDO:0001340 "A malignant neoplasm involving the heart" "ICD9:164.1 NCIT:C3081 DOID:117 NCIT:C3548 MESH:D006338" MONDO:0012226 "OMIM:609255 UMLS:C1836507 MESH:C563762 DOID:0111306" GO:0045983 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving purine bases." http://identifiers.org/hgnc/12404 MONDO:0017849 "Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed." "SCTID:721076000 Orphanet:3167 UMLS:C2931473 GARD:0004867 MESH:C537335" MONDO:0020565 -MONDO:0016816 "OMIM:607426 OMIM:614652 Orphanet:255249 UMLS:CN202084 ICD10:G31.8" +MONDO:0016816 "OMIM:607426 OMIM:614652 Orphanet:255249 ICD10CM:G31.8 UMLS:CN202084" http://identifiers.org/hgnc/11204 HP:0001882 "An abnormal decreased number of leukocytes in the blood." "MSH:D007970 SNOMEDCT_US:84828003 UMLS:C0023530" MONDO:0014889 "OMIM:617054 Orphanet:497906 UMLS:C4310743" -MONDO:0009987 "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy." "ICD10:H35.5 DOID:0110422 MESH:C564838 UMLS:C1849398 OMIM:268060 Orphanet:791" +MONDO:0009987 "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy." "DOID:0110422 MESH:C564838 UMLS:C1849398 OMIM:268060 Orphanet:791" MONDO:0006047 "A carcinoma that arises from glandular epithelial cells of the pancreas" "UMLS:C0281361 ONCOTREE:PAAD SCTID:700423003 EFO:1000044 NCIT:C8294 DOID:4074" GO:1904427 "Any process that activates or increases the frequency, rate or extent of calcium ion transmembrane transport." GO:0016832 "Catalysis of the cleavage of a C-C bond in a molecule containing a hydroxyl group and a carbonyl group to form two smaller molecules, each being an aldehyde or a ketone." MONDO:0005134 "An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis." "NCIT:C3006 EFO:0001066 MESH:D004681" CHEBI:36684 -MONDO:0017754 "An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process." "Orphanet:309813 ICD10:E80.2 UMLS:C1275125 ICD10:E80.3 ICD10:E80.0 ICD10:E80.4 ICD10:E80.5 SCTID:403832004 ICD10:E80.7 ICD10:E80.6 ICD10:E80.1" +MONDO:0017754 "An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process." "Orphanet:309813 ICD10CM:E80.2 UMLS:C1275125 ICD10CM:E80.3 ICD10CM:E80.0 ICD10CM:E80.5 ICD10CM:E80.4 ICD10CM:E80.6 ICD10CM:E80.7 SCTID:403832004 ICD10CM:E80.1" MONDO:0013625 "Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene." "OMIM:614203 UMLS:C3280133 DOID:0060897 Orphanet:411602" MONDO:0014372 "Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene." "UMLS:C4014501 DOID:0111025 OMIM:615860" CHEBI:50176 "A drug that softens, separates, and causes desquamation of the cornified epithelium or horny layer of skin. Keratolytic drugs are used to expose mycelia of infecting fungi or to treat corns, warts, and certain other skin diseases." @@ -2537,15 +2536,15 @@ MONDO:0023062 "GARD:0002109" MONDO:0012227 "UMLS:C1836506 OMIM:609256 MESH:C563761" http://identifiers.org/hgnc/572 NCBITaxon:43755 "GC_ID:1" -MONDO:0014035 "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person." "UMLS:C3554449 Orphanet:404473 GARD:0003505 DOID:0070049 ICD10:G11.4 OMIM:615075" +MONDO:0014035 "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person." "ICD10CM:G11.4 UMLS:C3554449 Orphanet:404473 GARD:0003505 DOID:0070049 OMIM:615075" CHEBI:76823 "An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of any acid-ammonia (or amine) ligase (EC 6.3.1.*)." -MONDO:0016815 "OMIM:256000 ICD10:G31.8 Orphanet:255241 OMIM:616277 UMLS:CN202083" -MONDO:0016890 "Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "MESH:C537826 ICD10:Q93.5 GARD:0003768 Orphanet:261920" +MONDO:0016815 "OMIM:256000 Orphanet:255241 ICD10CM:G31.8 OMIM:616277 UMLS:CN202083" +MONDO:0016890 "Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "ICD10CM:Q93.5 MESH:C537826 GARD:0003768 Orphanet:261920" MONDO:0020566 MONDO:0003680 "A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling." "DOID:5859 DOID:5866 ICDO:9221/3 NCIT:C7357 UMLS:C0334549" -MONDO:0018379 "Orphanet:399302 ICD10:M87.8" +MONDO:0018379 "Orphanet:399302 ICD10CM:M87.8" MONDO:0011029 "OMIM:601308" -MONDO:0006816 "Any disorder of the joints." "ICD9:719.88 ICD9:716.98 ICD9:719.90 ICD9:716.80 ICD9:719.9 ICD9:711 ICD10:M19.90 ICD10:M12.9 UMLS:C0022408 ICD9:719.89 EFO:1000999 ICD9:719.80 ICD10:M25.9 ICD9:716.90 SCTID:396275006 ICD10:M00-M02 MedDRA:10003285 ICD9:719.98 SCTID:399269003 ICD9:716.88 MESH:D007592 NCIT:C35760 DOID:381 ICD9:716.9 ICD10:M15.M19" +MONDO:0006816 "Any disorder of the joints." "ICD10CM:M00-M02 ICD9:719.88 ICD9:716.98 ICD9:719.90 ICD9:716.80 ICD9:719.9 ICD10CM:M20-M25 ICD9:711 ICD10CM:M05-M14 ICD10CM:M26-M27 UMLS:C0022408 ICD9:719.89 EFO:1000999 ICD9:719.80 ICD9:716.90 SCTID:396275006 ICD10CM:M15-M19 MedDRA:10003285 ICD9:719.98 SCTID:399269003 ICD9:716.88 MESH:D007592 NCIT:C35760 DOID:381 ICD9:716.9" CL:2000066 "Any fibroblast that is part of a cardiac ventricle." MONDO:0015618 "UMLS:CN199994 Orphanet:165661" UBERON:5103635 @@ -2557,20 +2556,20 @@ CHR:9606-chr15q26-qter MONDO:0015617 "Orphanet:165658 UMLS:CN199993" MONDO:0013426 "DOID:0070237 UMLS:C3151087 OMIM:613795 Orphanet:284984 GARD:0010997" MONDO:0015492 "Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." "GARD:0013011 MESH:D056648 Orphanet:156152 UMLS:C2717865" -MONDO:0018442 "Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies." "Orphanet:40366 ICD10:Q86.8 MESH:C538169 SCTID:725287006 GARD:0000468 UMLS:CN205049" +MONDO:0018442 "Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies." "Orphanet:40366 ICD10CM:Q86.8 MESH:C538169 SCTID:725287006 GARD:0000468 UMLS:CN205049" GO:0048523 "Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level." MONDO:0012228 "MESH:C563760 OMIM:609257 UMLS:C1836505" MONDO:0013112 "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene." "MESH:C567772 UMLS:C2751324 OMIM:613071 DOID:0080528 Orphanet:60033" -MONDO:0019545 "Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours." "Orphanet:90069 ICD10:T60.3" +MONDO:0019545 "Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours." "Orphanet:90069 ICD10CM:T60.3" http://identifiers.org/hgnc/4886 MONDO:0001447 "HP:0025488 SCTID:236655005 DOID:12145 UMLS:C0341747 ICD9:596.55" MONDO:0011282 "UMLS:C1864232 OMIM:603040" -MONDO:0015635 "A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb." "SCTID:239118007 Orphanet:166286 ICD10:Q82.5 UMLS:C0473579 NCIT:C4740" +MONDO:0015635 "A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb." "SCTID:239118007 Orphanet:166286 ICD10CM:Q82.5 UMLS:C0473579 NCIT:C4740" GO:0006812 "The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." http://identifiers.org/hgnc/4620 MONDO:0000386 "A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas." "UMLS:C2987127 NCIT:C95404 DOID:0050626 ONCOTREE:GINET" GO:0014832 "A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary bladder. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary bladder is a musculomembranous sac along the urinary tract." -MONDO:0020463 "A congenital ectropion that is not part of a larger syndrome." "ICD10:Q10.1 Orphanet:99171" +MONDO:0020463 "A congenital ectropion that is not part of a larger syndrome." "Orphanet:99171 ICD10CM:Q10.1" http://identifiers.org/hgnc/11460 GO:0070469 "The protein complexes that form the electron transport system (the respiratory chain), associated with a cell membrane, usually the plasma membrane (in prokaryotes) or the inner mitochondrial membrane (on eukaryotes). The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient." MONDO:0010084 "UMLS:C1848963 OMIM:272000 MESH:C564792" @@ -2579,7 +2578,7 @@ MONDO:0000306 "Fungal infections caused by trichosporon that may become systemic MONDO:0002644 "DOID:3428 UMLS:C1334150 NCIT:C27575 Orphanet:206979" http://identifiers.org/hgnc/3688 CL:0002672 "A multi-fate stem cell that can give rise to different retinal cell types including rod and cone cells." -MONDO:0013211 "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42." "UMLS:C2750091 DOID:0110459 MESH:C567654 ICD10:I42.0 Orphanet:154 OMIM:613286" +MONDO:0013211 "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42." "UMLS:C2750091 DOID:0110459 MESH:C567654 Orphanet:154 ICD10CM:I42.0 OMIM:613286" MONDO:0003087 "A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare." "DOID:4679 NCIT:C5166 UMLS:C1334813" http://identifiers.org/hgnc/6182 MONDO:0100193 "Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition." "NCIT:C84428" @@ -2588,24 +2587,24 @@ http://identifiers.org/hgnc/4887 MONDO:0001446 "UMLS:C0489967 DOID:12144 ICD9:596.52 SCTID:9009001" GO:0045861 "Any process that stops, prevents, or reduces the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein." HP:0001679 "An abnormality of the aorta." "UMLS:C4025756 Fyler:1453" -MONDO:0018939 "A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported." "SCTID:277950001 GARD:0000156 OMIM:613154 OMIM:613150 OMIM:236670 OMIM:615181 Orphanet:588 OMIM:613153 OMIM:253280 OMIM:253800 OMIM:615350 ICD9:742.4 ICD10:Q04.3" +MONDO:0018939 "A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported." "SCTID:277950001 GARD:0000156 OMIM:613154 OMIM:613150 ICD10CM:Q04.3 OMIM:236670 OMIM:615181 Orphanet:588 OMIM:613153 OMIM:253280 OMIM:253800 OMIM:615350 ICD9:742.4" MONDO:0100007 -MONDO:0013985 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene." "UMLS:C3554163 ICD10:H90.3 DOID:0110474 OMIM:614945" -MONDO:0016785 "Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma." "NCIT:C4871 ONCOTREE:CHM OMIM:614293 UMLS:C0678213 Orphanet:254688 SCTID:237249000 OMIM:231090 ICD10:O01.0" +MONDO:0013985 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene." "UMLS:C3554163 DOID:0110474 OMIM:614945" +MONDO:0016785 "Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma." "NCIT:C4871 ONCOTREE:CHM OMIM:614293 UMLS:C0678213 Orphanet:254688 SCTID:237249000 OMIM:231090" MONDO:0002990 "A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases." "UMLS:C1266125 DOID:4419 NCIT:C6492" http://identifiers.org/hgnc/3689 MONDO:0002786 "A cancer involving a diencephalon." "UMLS:C1334576 NCIT:C5126 DOID:3843" -MONDO:0000955 "A malignant neoplasm involving the ileum" "ICD9:152.2 DOID:10153 ICD10:C17.2" +MONDO:0000955 "A malignant neoplasm involving the ileum" "ICD9:152.2 DOID:10153" HP:0000924 "An abnormality of the skeletal system." "UMLS:C4021790" NCBITaxon:119095 "GC_ID:1" http://identifiers.org/hgnc/6181 NCBITaxon:163343 "GC_ID:1" -MONDO:0004241 "Osteochondrosis of the growth plate near the tibial tuberosity." "NCIT:C34874 MESH:D055034 ICD9:736.89 SCTID:72047008 ICD10:M93.2 MedDRA:10031130 DOID:7489 Orphanet:97335 SCTID:430506003" +MONDO:0004241 "Osteochondrosis of the growth plate near the tibial tuberosity." "NCIT:C34874 MESH:D055034 ICD9:736.89 SCTID:72047008 MedDRA:10031130 DOID:7489 Orphanet:97335 SCTID:430506003 ICD10CM:M93.2" CHEBI:90710 "A drug that acts as an antagonist, agonist, reverse agonist, or in some other fashion when interacting with cellular receptors." http://identifiers.org/hgnc/2227 http://identifiers.org/hgnc/4888 MONDO:0015886 "OBSOLETE. Any of the forms of type 1 diabetes mellitus that have a rare incidence." "Orphanet:181371" -MONDO:0010332 "An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive." "UMLS:C1845450 MESH:C564510 Orphanet:85280 ICD10:Q87.8 OMIM:300471" +MONDO:0010332 "An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive." "UMLS:C1845450 MESH:C564510 Orphanet:85280 ICD10CM:Q87.8 OMIM:300471" CHEBI:39141 "A molecular entity capable of donating a hydron to an acceptor (Bronsted base)." GO:2000146 "Any process that stops, prevents, or reduces the frequency, rate or extent of cell motility." GO:0032369 "Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." @@ -2615,8 +2614,8 @@ HP:0001735 "A acute form of pancreatitis." "UMLS:C0001339 SNOMEDCT_US:197456007" MONDO:0004344 "A malignant hemangiopericytoma occurring in childhood." "UMLS:C0279983 NCIT:C8090 DOID:7731" GO:1900404 "A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of DNA repair." http://identifiers.org/hgnc/6180 -MONDO:0006913 "An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" "ICD9:320.1 UMLS:C0025295 SCTID:51169003 MedDRA:10027253 EFO:1001114 MedDRA:10035645 ICD10:G00.1 MESH:D008586 Orphanet:55655" -MONDO:0013241 "Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia." "DOID:0050979 MESH:C575214 SCTID:719253007 OMIM:613371 UMLS:C4304845 UMLS:C2936793 Orphanet:211017 GARD:0004950 ICD10:G11.2" +MONDO:0006913 "An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" "ICD9:320.1 UMLS:C0025295 ICD10CM:G00.1 SCTID:51169003 MedDRA:10027253 EFO:1001114 MedDRA:10035645 MESH:D008586 Orphanet:55655" +MONDO:0013241 "Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia." "DOID:0050979 MESH:C575214 SCTID:719253007 OMIM:613371 UMLS:C4304845 UMLS:C2936793 Orphanet:211017 GARD:0004950 ICD10CM:G11.2" GO:1903487 "Any process that modulates the frequency, rate or extent of lactation." http://identifiers.org/hgnc/10260 MONDO:0011283 "OMIM:603041 Orphanet:298 DOID:0080119" @@ -2626,8 +2625,8 @@ http://identifiers.org/hgnc/2226 MONDO:0013680 "OMIM:614306 UMLS:C3280415" MONDO:0003450 "A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections." "NCIT:C4173 DOID:5446 UMLS:C0334350 SCTID:253021007 ICDO:8408/0 GARD:0010463" MONDO:0009300 "Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene." "OMIM:233400 UMLS:C0685838 Orphanet:2855" -MONDO:0005351 "A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea." "OMIM:610269 NCIT:C34387 EFO:0004215 ICD10:F50.00 DOID:8689 SCTID:56882008 MESH:D000856 Orphanet:36297 ICD10:F50.0 ICD9:307.1" -MONDO:0005276 "The decay of a tooth, in which it becomes softened, discolored, and/or porous." "ICD9:521.06 ICD10:K02 SCTID:80967001 DOID:216 ICD10:K02.9 EFO:0003819 UMLS:C0011334 ICD9:521.0 MESH:D003731 ICD10:K02.6 NCIT:C52593 ICD9:521.07 ICD9:521.00" +MONDO:0005351 "A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea." "OMIM:610269 NCIT:C34387 EFO:0004215 DOID:8689 SCTID:56882008 ICD10CM:F50.0 MESH:D000856 Orphanet:36297 ICD9:307.1" +MONDO:0005276 "The decay of a tooth, in which it becomes softened, discolored, and/or porous." "ICD9:521.06 SCTID:80967001 DOID:216 EFO:0003819 UMLS:C0011334 ICD10CM:K02 ICD9:521.0 MESH:D003731 NCIT:C52593 ICD9:521.07 ICD9:521.00" MONDO:0024281 "A group of conditions used to describe polyarthritis occurring in children." "NCIT:C26979" NBO:0000181 "\"This type of memory, lasting hours to months, critically depends on a transfer of the information from short term memory using repeated rehearsal.\" [NBO:GVG]" MONDO:0012482 "OMIM:610379" @@ -2635,8 +2634,8 @@ MONDO:0000246 http://identifiers.org/hgnc/25812 MONDO:0000964 "A benign or malignant adipose tissue neoplasm of the skin." "NCIT:C4616 ICD9:214.0 SCTID:255187008 ICD9:214.1 DOID:10188" MONDO:0013247 "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene." "UMLS:C3150652 Orphanet:3337 OMIM:613388" -MONDO:0019664 "Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period." "SCTID:254051008 OMIM:613091 MESH:C537602 OMIM:614091 OMIM:615633 ICD10:Q77.2 GARD:0004835 UMLS:C0432197 Orphanet:93271 ICD9:759.89 OMIM:615503" -MONDO:0009378 "Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case." "GARD:0010267 OMIM:237400 ICD9:270.8 MESH:C562684 UMLS:C0268630 SCTID:2359002 ICD10:E79.8 Orphanet:309147" +MONDO:0019664 "Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period." "SCTID:254051008 OMIM:613091 OMIM:614091 MESH:C537602 OMIM:615633 GARD:0004835 UMLS:C0432197 ICD10CM:Q77.2 Orphanet:93271 ICD9:759.89 OMIM:615503" +MONDO:0009378 "Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case." "GARD:0010267 OMIM:237400 ICD9:270.8 MESH:C562684 UMLS:C0268630 ICD10CM:E79.8 SCTID:2359002 Orphanet:309147" NCBITaxon:43750 "GC_ID:1" CL:0002028 "A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa" GO:2000872 "Any process that activates or increases the frequency, rate or extent of progesterone secretion." @@ -2647,7 +2646,7 @@ NCBITaxon:11027 GO:0005635 "The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space)." CHEBI:137980 "An atom of an element that exhibits properties that are between those of metals and nonmetals, or that has a mixture of them. The term generally includes boron, silicon, germanium, arsenic, antimony, and tellurium, while carbon, aluminium, selenium, polonium, and astatine are less commonly included." GO:1900418 "OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of purine nucleotide biosynthetic process." -MONDO:0016286 "A adenoid cystic carcinoma that involves the uterine cervix." "ICD10:C53.1 ICD10:C53.0 Orphanet:213823 ICD10:C53.8" +MONDO:0016286 "A adenoid cystic carcinoma that involves the uterine cervix." "ICD10CM:C53.0 ICD10CM:C53.8 Orphanet:213823 ICD10CM:C53.1" CHEBI:30501 "Alkaline earth metal atom with atomic number 4." MONDO:0012887 "An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1." "OMIM:612381 UMLS:C2676484 DOID:0110884 MESH:C567326" MONDO:0004318 "An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung." "NCIT:C40440 UMLS:C1518737 DOID:7650" @@ -2662,7 +2661,7 @@ MONDO:0021656 "A term that refers to teratoma, embryonal carcinoma, yolk sac tum MONDO:0002320 "An abnormality of the nervous system that is present at birth or detected in the neonatal period." "ICD9:742 DOID:2490 NCIT:C97172" MONDO:0013375 "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene." "DOID:0080591 Orphanet:2345 OMIM:613702 UMLS:C3150967" HP:0010979 "An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood." "UMLS:C4023615" -MONDO:0019318 "UMLS:C0473574 GARD:0005484 Orphanet:79466 SCTID:399995006 ICD10:Q82.5" +MONDO:0019318 "UMLS:C0473574 GARD:0005484 Orphanet:79466 SCTID:399995006 ICD10CM:Q82.5" GO:0044085 "A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component." MONDO:0014088 "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene." "OMIM:615224 Orphanet:164736 UMLS:C3808874 DOID:0110012" MONDO:0013683 "Orphanet:289365 UMLS:C3280440 OMIM:614318" @@ -2672,7 +2671,7 @@ MONDO:0014881 "UMLS:C4310751 Orphanet:488618 OMIM:617044" MONDO:0024308 "An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract." "SCTID:252246005 ICD9:757.39" MONDO:0006854 "A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." "EFO:1001042 ICDO:8990/1 UMLS:C0025464 DOID:2668 NCIT:C3233 MESH:D008637" HP:0002300 "SNOMEDCT_US:88052002 UMLS:C0026884 MSH:D009155" -MONDO:0011046 "This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism." "UMLS:C1832439 MESH:C537121 OMIM:601350 SCTID:719213009 Orphanet:2867 GARD:0004838 ICD10:Q87.1" +MONDO:0011046 "This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism." "UMLS:C1832439 MESH:C537121 OMIM:601350 SCTID:719213009 Orphanet:2867 ICD10CM:Q87.1 GARD:0004838" CHEBI:24669 "Any carboxylic acid with at least one hydroxy group." MONDO:0003189 "A carcinoma that arises from glandular epithelial cells of the middle ear" "DOID:4892 NCIT:C6848 UMLS:C1334758" GO:0035461 "The process in which a vitamin is transported across a membrane. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body." @@ -2685,20 +2684,20 @@ GO:0006140 "Any process that modulates the frequency, rate or extent of the chem CHEBI:76775 "An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of any phosphoric monoester hydrolase (EC 3.1.3.*)." CL:0000223 "A cell of the inner of the three germ layers of the embryo." "FMA:72555" GO:1905213 "Any process that stops, prevents or reduces the frequency, rate or extent of mitotic chromosome condensation." -MONDO:0019332 "Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.." "OMIM:614936 OMIM:148600 Orphanet:79501 GARD:0003103 UMLS:CN205995 ICD10:Q82.8 SCTID:717184007" -MONDO:0018914 "Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." "Orphanet:55654 ICD10:L65.8 OMIM:614237 SCTID:723362004 OMIM:605389 OMIM:607903 UMLS:C1854310 OMIM:614238 MESH:C537160 OMIM:615059 OMIM:278150 OMIM:604379 OMIM:615885 GARD:0009170" -MONDO:0001440 "SCTID:77080005 UMLS:C0155084 DOID:12125 ICD10:H16.23 ICD9:370.35" +MONDO:0019332 "Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.." "OMIM:614936 OMIM:148600 Orphanet:79501 GARD:0003103 UMLS:CN205995 ICD10CM:Q82.8 SCTID:717184007" +MONDO:0018914 "Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." "Orphanet:55654 OMIM:614237 SCTID:723362004 OMIM:605389 OMIM:607903 UMLS:C1854310 OMIM:614238 MESH:C537160 OMIM:615059 ICD10CM:L65.8 OMIM:278150 OMIM:604379 OMIM:615885 GARD:0009170" +MONDO:0001440 "SCTID:77080005 UMLS:C0155084 DOID:12125 ICD9:370.35" HP:0000153 "An abnormality of the mouth." "MSH:D009056 SNOMEDCT_US:128334002 UMLS:C0026633" -MONDO:0013457 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene." "DOID:0110189 OMIM:613843 ICD10:H35.5 GARD:0010884 UMLS:C3151206" +MONDO:0013457 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene." "DOID:0110189 OMIM:613843 GARD:0010884 UMLS:C3151206" MONDO:0011588 "An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity." "OMIM:605735 UMLS:C2751535 DOID:0111058 MESH:C567786" NCBITaxon:119093 "GC_ID:1" -MONDO:0009185 "Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia." "DOID:0111668 Orphanet:1946 ICD10:G40.8 MESH:C537213 OMIM:226750 UMLS:C0406740 SCTID:109478007 GARD:0003128" +MONDO:0009185 "Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia." "DOID:0111668 Orphanet:1946 ICD10CM:G40.8 MESH:C537213 OMIM:226750 UMLS:C0406740 SCTID:109478007 GARD:0003128" http://identifiers.org/hgnc/10263 http://identifiers.org/hgnc/12660 MONDO:0012245 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene." "UMLS:C0270855 Orphanet:1935 DOID:0080440 OMIM:609304" -MONDO:0018079 "An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas." "Orphanet:3398 UMLS:C1266101 ONCOTREE:TET ICD10:C37 ICD10:D15.0 NCIT:C6450 MESH:C536905 GARD:0005201" +MONDO:0018079 "An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas." "Orphanet:3398 ICD10CM:C37 UMLS:C1266101 ONCOTREE:TET NCIT:C6450 MESH:C536905 GARD:0005201 ICD10CM:D15.0" UBERON:0012249 -MONDO:0010089 "Orphanet:99731 GARD:0005062 ICD10:E72.1 MESH:C538141 SCTID:367368009 Orphanet:833 OMIM:272300 DOID:0111270" +MONDO:0010089 "Orphanet:99731 GARD:0005062 MESH:C538141 SCTID:367368009 Orphanet:833 ICD10CM:E72.1 OMIM:272300 DOID:0111270" MONDO:0006313 "A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium." "SCTID:24565001 NCIT:C34835 UMLS:C0027269 Wikipedia:Nabothian_cyst EFO:1000390" MONDO:0012486 "MESH:C566904 UMLS:C1968893 OMIM:610420" NCBITaxon:186537 "GC_ID:1" @@ -2707,7 +2706,7 @@ UBERON:0005367 MONDO:0009730 UBERON:0007762 UBERON:0035480 -MONDO:0016901 "Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "MESH:C538315 UMLS:C0795804 Orphanet:262010 GARD:0003744 ICD10:Q93.5" +MONDO:0016901 "Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "MESH:C538315 UMLS:C0795804 Orphanet:262010 GARD:0003744 ICD10CM:Q93.5" MONDO:0044884 "A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas." "NCIT:C5918 UMLS:C1336765" MONDO:0008532 "OMIM:187050 HP:0000695 SCTID:21995002" HsapDv:0000096 "Child stage that refers to a child who is over 2 and under 3 years old." @@ -2718,11 +2717,11 @@ MONDO:0000810 "OBSOLETE. A dilated cardiomyopathy that has material basis in mut UBERON:0012430 MONDO:0005598 "A neuroblastoma associated with increased dopamine excretion." "PMID:3385588 EFO:0006391" MONDO:0003633 "A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." "GARD:0003369 NCIT:C4268 ICDO:8990/3 DOID:5758" -MONDO:0006383 "An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." "Orphanet:178544 EFO:1000490 ICDO:9680/3 NCIT:C45194 UMLS:C1709656 ICD10:C83.3" +MONDO:0006383 "An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required." "Orphanet:178544 EFO:1000490 ICDO:9680/3 NCIT:C45194 ICD10CM:C83.3 UMLS:C1709656" NCBITaxon:186536 "GC_ID:1" NCBITaxon:11292 "GC_ID:1" MONDO:0009995 "OMIM:268240" -MONDO:0007520 "An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3." "MESH:C565062 OMIM:129900 ICD10:Q82.4 UMLS:C0406704 Orphanet:1896 DOID:0060784" +MONDO:0007520 "An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3." "MESH:C565062 OMIM:129900 UMLS:C0406704 Orphanet:1896 DOID:0060784" CHEBI:35352 "Any heteroorganic entity containing at least one carbon-nitrogen bond." http://identifiers.org/hgnc/2252 MONDO:0005461 "An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." "EFO:0005232 UMLS:C1153706 DOID:2870 UMLS:C0279763 UMLS:C1336905 NCIT:C7359 NCIT:C6287" @@ -2733,21 +2732,21 @@ MONDO:0010980 "OMIM:601016 Orphanet:1678 MESH:C536177 UMLS:C1832874" UBERON:0006563 GO:0046031 "The chemical reactions and pathways involving ADP, adenosine 5'-diphosphate." MONDO:0023005 "GARD:0001910" -MONDO:0007330 "Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle." "SCTID:70794004 ICD10:Q74.0 Orphanet:66630 OMIM:118980 MESH:C562548" +MONDO:0007330 "Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle." "SCTID:70794004 Orphanet:66630 ICD10CM:Q74.0 OMIM:118980 MESH:C562548" GO:0051447 "Any process that stops, prevents or reduces the rate or extent of progression through the meiotic cell cycle." MONDO:0004075 "A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas." "DOID:7014 UMLS:C0334473 NCIT:C7451" http://identifiers.org/hgnc/24866 MONDO:0000253 "Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species." "SCTID:402135006 UMLS:C0031898 MESH:D010854" UBERON:0005103 -MONDO:0011082 "OMIM:601452 MESH:C537865 GARD:0004031 Orphanet:398156 ICD10:Q87.0 UMLS:C1832352" -MONDO:0007435 "Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." "NCIT:C122653 DOID:0060162 UMLS:C0751781 ICD10:G11.8 SCTID:68116008 Orphanet:101 OMIM:125370 GARD:0005643 ICD9:333.99" +MONDO:0011082 "OMIM:601452 MESH:C537865 GARD:0004031 ICD10CM:Q87.0 Orphanet:398156 UMLS:C1832352" +MONDO:0007435 "Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." "NCIT:C122653 DOID:0060162 UMLS:C0751781 SCTID:68116008 Orphanet:101 OMIM:125370 GARD:0005643 ICD10CM:G11.8 ICD9:333.99" CHEBI:33598 "A homocyclic compound in which all of the ring members are carbon atoms." MONDO:0032756 "OMIM:618447" MONDO:0024466 "OMIM:601471 UMLS:C1832284 Orphanet:306527" MONDO:0003954 "An angiokeratoma that is located on the scrotum or vulva." "DOID:664 UMLS:C0263639 NCIT:C7752 SCTID:6331000" NCBITaxon:561 "PMID:19700542 GC_ID:11" -MONDO:0013317 "Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." "UMLS:C3150851 OMIM:613600 SCTID:718104007 Orphanet:51084 ICD10:I49.8" -MONDO:0017638 "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)" "MedDRA:10058951 MESH:D020149 Orphanet:306682 ICD9:503 ICD10:T57.2 SCTID:88687001 EFO:1001808" +MONDO:0013317 "Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death." "UMLS:C3150851 OMIM:613600 SCTID:718104007 ICD10CM:I49.8 Orphanet:51084" +MONDO:0017638 "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)" "MedDRA:10058951 MESH:D020149 Orphanet:306682 ICD9:503 SCTID:88687001 EFO:1001808" MONDO:0014418 "Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene." "DOID:0111222 OMIM:615959 UMLS:C4014814 Orphanet:169186" MONDO:0032755 "OMIM:618443" GO:0007620 "The act of sexual union between male and female, involving the transfer of sperm." @@ -2767,9 +2766,9 @@ NCBITaxon:2759 "PMID:30257078 GC_ID:1 PMID:23020233" HsapDv:0000144 "Middle aged stage that refers to an adult who is over 50 and under 51." ENVO:01001334 "A material transport process during which a volume of material is displaced due to a disequilibrium in physical forces and during which 1) the qualities that inhere in that volume and 2) the processes that are unfolding within it are largely unchanged." HP:0031797 "The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual." -MONDO:0007820 "Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure." "SCTID:707796002 GARD:0002419 ICD10:K00.2 UMLS:CN201433 OMIM:147251 Orphanet:2287" +MONDO:0007820 "Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure." "SCTID:707796002 GARD:0002419 UMLS:CN201433 OMIM:147251 Orphanet:2287 ICD10CM:K00.2" MONDO:0044917 "The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)" "NCIT:C6919 EFO:1001830 SCTID:421246008" -MONDO:0015788 "A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX." "UMLS:CN200370 Orphanet:177929 ICD10:D67" +MONDO:0015788 "A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX." "UMLS:CN200370 Orphanet:177929 ICD10CM:D67" MONDO:0100229 "OBSOLETE. A peroxisoome biogenesis disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes." "OMIM:234580 MESH:C535994 Orphanet:3220 UMLS:C1856186 GARD:0001687 SCTID:721085000 OMIM:616617" MONDO:0010982 "GARD:0002957 UMLS:C1832858 MESH:C563402 OMIM:601039" MONDO:0022904 "MESH:C536218 ICD9:286.9 SCTID:10934005 UMLS:C0272263 GARD:0009908" @@ -2788,12 +2787,12 @@ MONDO:0004697 "A rare condition that usually affects the middle-to-distal esopha UBERON:0005363 MONDO:0003624 "A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation." "NCIT:C40367 UMLS:C1515868 DOID:5743" http://identifiers.org/hgnc/7154 -MONDO:0004838 "UMLS:C0232867 ICD10:R80.2 ICD9:593.6 DOID:9617" +MONDO:0004838 "UMLS:C0232867 ICD9:593.6 DOID:9617" MONDO:0054561 "OMIM:617396" MONDO:0008536 "OMIM:187340" http://identifiers.org/hgnc/1059 -MONDO:0018864 "Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat." "NCIT:C71719 SCTID:127217009 UMLS:C0398367 GARD:0006834 Orphanet:50918 ICD10:I88.1 MESH:D020042" -MONDO:0015171 "Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life." "ICD10:P78.3 Orphanet:103910 SCTID:725591002" +MONDO:0018864 "Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat." "NCIT:C71719 SCTID:127217009 UMLS:C0398367 GARD:0006834 Orphanet:50918 ICD10CM:I88.1 MESH:D020042" +MONDO:0015171 "Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life." "Orphanet:103910 ICD10CM:P78.3 SCTID:725591002" UBERON:0006568 MONDO:0004261 "A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts." "DOID:7520 NCIT:C40388 UMLS:C1518974" MONDO:0030354 "OMIM:619477" @@ -2802,20 +2801,20 @@ MONDO:0012281 MONDO:0006399 MONDO:0015587 "Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed." "UMLS:CN199957 OMIM:300643 OMIM:245570 Orphanet:163721" CHEBI:22478 "An alcohol containing an amino functional group in addition to the alcohol-defining hydroxy group." -MONDO:0000946 "Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause." "SCTID:71787009 ICD10:F52.5 DOID:10131 ICD9:306.51 NCIT:C35113" +MONDO:0000946 "Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause." "SCTID:71787009 DOID:10131 ICD9:306.51 NCIT:C35113" MONDO:0023008 -MONDO:0020508 "UMLS:C0039144 UMLS:C1299627 Orphanet:99856 SCTID:371076006 ICD10:Q06.4" +MONDO:0020508 "UMLS:C0039144 UMLS:C1299627 Orphanet:99856 SCTID:371076006 ICD10CM:Q06.4" MONDO:0009316 "Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration." "MESH:C537628 OMIM:234030 GARD:0002582 Orphanet:1408" PATO:0002062 MONDO:0010985 "OMIM:601068 MESH:C563399 Orphanet:86814 DOID:0111690 UMLS:C1832841" MONDO:0007598 "UMLS:C1851375 MESH:C565023 OMIM:134520" HP:0011362 "An abnormal amount of hair." "UMLS:C4023401 UMLS:C4023397" MONDO:0054560 "OMIM:607095" -MONDO:0013626 "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene." "OMIM:616106 OMIM:614204 GARD:0012819 NCIT:C119057 ICD10:L40.2 UMLS:CN226196 UMLS:CN199965 SCTID:238612002 Orphanet:404546 ICD9:696.1 Orphanet:247353 Orphanet:163931 DOID:0080474 SCTID:83839005 ICD10:L40.1" +MONDO:0013626 "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene." "OMIM:616106 OMIM:614204 GARD:0012819 NCIT:C119057 UMLS:CN226196 UMLS:CN199965 ICD10CM:L40.1 Orphanet:404546 ICD9:696.1 Orphanet:247353 Orphanet:163931 DOID:0080474 SCTID:83839005 ICD10CM:L40.2" MONDO:0007332 "OMIM:119100 MESH:C536425 Orphanet:3329" -MONDO:0007031 "An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome." "SCTID:715364001 OMIM:609782 OMIM:611891 UMLS:CN206207 UMLS:C4275172 OMIMPS:100070 OMIM:100070 OMIM:614375 GARD:0009181 Orphanet:86 ICD10:I71.4" +MONDO:0007031 "An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome." "SCTID:715364001 OMIM:609782 OMIM:611891 UMLS:CN206207 OMIMPS:100070 UMLS:C4275172 OMIM:100070 OMIM:614375 GARD:0009181 Orphanet:86 ICD10CM:I71.4" UBERON:0035483 -MONDO:0005504 "A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects." "DOID:11405 ICD9:032 ICD10:A36.0 ICD10:A36.9 NCIT:C34541 ICD10:A36.2 MedDRA:10013023 EFO:0005549 GARD:0001875 ICD9:032.9 ICD10:A36.1 MESH:D004165 ICD10:A36.3 SCTID:397428000 Orphanet:1679 ICD10:A36.8 ICD10:A36 UMLS:C0012546" +MONDO:0005504 "A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects." "Orphanet:1679 MedDRA:10013023 ICD10CM:A36 MESH:D004165 ICD10CM:A36.3 ICD10CM:A36.9 GARD:0001875 ICD10CM:A36.1 ICD10CM:A36.2 UMLS:C0012546 ICD9:032 ICD10CM:A36.8 ICD10CM:A36.0 NCIT:C34541 DOID:11405 ICD9:032.9 SCTID:397428000 EFO:0005549" http://identifiers.org/hgnc/24861 CHR:9606-chr22q13 GO:0001806 "An inflammatory response driven by T cell recognition of processed soluble or cell-associated antigens leading to cytokine release and leukocyte activation." @@ -2826,7 +2825,7 @@ NCBITaxon:32525 "GC_ID:1" http://identifiers.org/hgnc/1058 GO:0046164 "The chemical reactions and pathways resulting in the breakdown of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom." UBERON:0006567 -MONDO:0013480 "GARD:0012155 DOID:0060884 OMIM:613882 UMLS:C3151295 Orphanet:34527 ICD10:E83.4" +MONDO:0013480 "GARD:0012155 DOID:0060884 OMIM:613882 UMLS:C3151295 Orphanet:34527" http://identifiers.org/hgnc/23663 GO:0002312 "The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific." MONDO:0008519 "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene." "UMLS:C0342282 GARD:0003836 OMIM:186500 Orphanet:3237" @@ -2836,30 +2835,30 @@ HP:0031258 "A state of sudden and severe confusion." HP:0011458 "A subjective manifestation of disease localized to the abdomen." "UMLS:C0740651" FOODON:03411213 CHR:9606-chr1p3 -MONDO:0016264 "Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." "SCTID:197284004 MedDRA:10003827 OMIM:109100 ICD10:K75.4 UMLS:C1332355 EFO:0005676 ICD9:571.42 UMLS:C0241910 NCIT:C27029 DOID:2048 Orphanet:2137 SCTID:408335007 GARD:0005871 MESH:D019693" +MONDO:0016264 "Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." "SCTID:197284004 MedDRA:10003827 OMIM:109100 UMLS:C1332355 EFO:0005676 ICD9:571.42 UMLS:C0241910 NCIT:C27029 DOID:2048 Orphanet:2137 SCTID:408335007 GARD:0005871 MESH:D019693 ICD10CM:K75.4" http://identifiers.org/hgnc/24862 -MONDO:0006007 "Abnormal flow of urine from the urinary bladder back into the ureters." "SCTID:197811007 DOID:9620 ICD10:N13.7 MESH:D014718 UMLS:C0042580 EFO:0007536 ICD10:N13.70 HP:0000076 NCIT:C84467 Orphanet:289365 ICD9:593.7" +MONDO:0006007 "Abnormal flow of urine from the urinary bladder back into the ureters." "SCTID:197811007 DOID:9620 MESH:D014718 UMLS:C0042580 EFO:0007536 HP:0000076 NCIT:C84467 Orphanet:289365 ICD9:593.7" CHEBI:25389 "Any hydroxybenzoic acid having a single phenolic hydroxy substituent on the benzene ring." -MONDO:0008662 "Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." "DOID:0111569 Orphanet:263347 GARD:0005507 SCTID:711162004 UMLS:C3888099 ICD10:H35.5 MESH:C536352 OMIM:193220 Orphanet:3086" +MONDO:0008662 "Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." "DOID:0111569 Orphanet:263347 GARD:0005507 SCTID:711162004 UMLS:C3888099 ICD10CM:H35.5 MESH:C536352 OMIM:193220 Orphanet:3086" MONDO:0032751 "OMIM:618436 DOID:0111602" MONDO:0002696 "A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course." "MESH:D012707 NCIT:C39976 ICDO:8640/1 ICDO:8630/1 DOID:3577 UMLS:C0036769" MONDO:0008534 "Orphanet:280774 UMLS:C0473555 OMIM:187260 SCTID:238763007" MONDO:0012283 "MESH:C536427 GARD:0010063 OMIM:609466 UMLS:C1836120" -MONDO:0015524 "Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer." "UMLS:CN199665 OMIM:617108 OMIM:175020 ICD10:D12.6 SCTID:763536006 Orphanet:157798 NCIT:C165469" +MONDO:0015524 "Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer." "UMLS:CN199665 ICD10CM:D12.6 OMIM:617108 OMIM:175020 SCTID:763536006 Orphanet:157798 NCIT:C165469" CHEBI:27027 "Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions." -MONDO:0012019 "Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy." "ICD10:Q77.7 OMIM:608361 MESH:C564252 SCTID:719203001 Orphanet:93283" +MONDO:0012019 "Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy." "ICD10CM:Q77.7 OMIM:608361 MESH:C564252 SCTID:719203001 Orphanet:93283" UBERON:0006566 MONDO:0022909 "GARD:0001637" MONDO:0006833 "Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms." "MESH:D047268 ICD9:759.2 UMLS:C0271760 SCTID:75667007 EFO:1001018 DOID:13196" MONDO:0023006 "GARD:0006285" -MONDO:0008538 "Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries." "MedDRA:10018250 GARD:0009615 OMIM:187360 MedDRA:10043207 DOID:13375 Orphanet:397 ICD10:M31.6 UMLS:C1956391 SCTID:400130008 ICD9:446.5 NCIT:C35065 EFO:1001209" +MONDO:0008538 "Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries." "MedDRA:10018250 GARD:0009615 OMIM:187360 MedDRA:10043207 DOID:13375 ICD10CM:M31.6 Orphanet:397 UMLS:C1956391 SCTID:400130008 ICD9:446.5 NCIT:C35065 EFO:1001209" http://identifiers.org/hgnc/26162 GO:0051604 "Any process leading to the attainment of the full functional capacity of a protein." CHEBI:35523 "An agent that causes an increase in the expansion of a bronchus or bronchial tubes." UBERON:0010291 MONDO:0010721 "GARD:0007559 OMIM:312500 UMLS:C0035288 MESH:C538362" http://identifiers.org/hgnc/18957 -MONDO:0015722 "Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors." "Orphanet:98434 OMIMPS:277450 Orphanet:169826 ICD10:D68.2" +MONDO:0015722 "Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors." "Orphanet:98434 ICD10CM:D68.2 OMIMPS:277450 Orphanet:169826" UBERON:0005366 CHR:9606-chr1p2 MONDO:0004839 @@ -2871,12 +2870,12 @@ http://identifiers.org/hgnc/17759 GO:1903296 "Any process that activates or increases the frequency, rate or extent of glutamate secretion, where glutamate acts as a neurotransmitter." MONDO:0012284 "OMIM:609469 UMLS:C1836119 MESH:C563713" UBERON:0008962 -MONDO:0005725 "A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain." "SCTID:716860005 GARD:0009528 MESH:D021866 DOID:12750 ICD9:007.5 UMLS:C0343398 ICD10:A07.3 UMLS:C4274225 NCIT:C128409 EFO:0007230 ICD10:A07.4 Orphanet:210 SCTID:240372001" +MONDO:0005725 "A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain." "SCTID:716860005 ICD10CM:A07.4 GARD:0009528 MESH:D021866 DOID:12750 ICD9:007.5 UMLS:C0343398 UMLS:C4274225 NCIT:C128409 ICD10CM:A07.3 EFO:0007230 Orphanet:210 SCTID:240372001" MONDO:0022908 "GARD:0001635" MONDO:0004970 "A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma." "SCTID:443961001 EFO:0000228 DOID:299 NCIT:C2852 UMLS:C0001418 MESH:D000230 CSP:2000-0386 ICDO:8140/3 ONCOTREE:ADNOS" UBERON:0006565 CHEBI:17295 "The L-enantiomer of phenylalanine." -MONDO:0010408 "This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." "SCTID:723581006 Orphanet:140952 GARD:0010295 UMLS:C2678045 OMIM:300707 MESH:C567475 ICD10:Q87.8" +MONDO:0010408 "This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." "SCTID:723581006 Orphanet:140952 GARD:0010295 UMLS:C2678045 OMIM:300707 ICD10CM:Q87.8 MESH:C567475" MONDO:0023483 "An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain." "SCTID:29689003 NCIT:C26984 ICD9:728.0 GARD:0009131" NCBITaxon:266068 "GC_ID:11" MONDO:0004538 "A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix." "DOID:8340 UMLS:C1516421 NCIT:C40202" @@ -2885,29 +2884,29 @@ MONDO:0024460 MONDO:0000381 "A infiltrating urothelial carcinoma that involves the renal pelvis." "DOID:0050620" MONDO:0011450 "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene." "OMIM:604370 Orphanet:227535 Orphanet:145" MONDO:0054565 "OMIM:617405" -MONDO:0013877 "An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation." "ICD10:E74.4 DOID:0080363 UMLS:C3553607 Orphanet:447784 OMIM:614741" +MONDO:0013877 "An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation." "ICD10CM:E74.4 DOID:0080363 UMLS:C3553607 Orphanet:447784 OMIM:614741" SO:0000831 "A region of a gene." MONDO:0016187 "Orphanet:209041" MONDO:0002681 "A malignant neoplasm involving the choroid plexus" "UMLS:C0085138 NCIT:C4533 NCIT:C3473 DOID:3540 SCTID:254942002" -MONDO:0014464 "Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop." "MESH:C565624 GARD:0010327 Orphanet:431361 UMLS:C1857252 ICD10:G31.8 OMIM:616034" +MONDO:0014464 "Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop." "MESH:C565624 GARD:0010327 Orphanet:431361 UMLS:C1857252 ICD10CM:G31.8 OMIM:616034" GO:0043470 "Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of carbohydrates." CL:0000349 HP:0000366 "An abnormality of the nose." "UMLS:C2235909 SNOMEDCT_US:128274005 UMLS:C0240547 UMLS:C0265736 SNOMEDCT_US:72089000" MONDO:0011987 "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene." "MESH:C567698 DOID:0111016 UMLS:C2750720 OMIM:608194" CL:0002034 "A hematopoietic stem cell with long term self renewal capability. This cell is Kit-positive, Sca1-positive, CD150-positive, CD90-low, CD34-negative and Flt3-negative." UBERON:0004161 -MONDO:0018582 "Orphanet:438274 ICD10:E16.3 GARD:0010460 UMLS:CN237611" -MONDO:0018583 "Orphanet:438279 UMLS:CN237612 ICD10:B08.0" +MONDO:0018582 "Orphanet:438274 GARD:0010460 ICD10CM:E16.3 UMLS:CN237611" +MONDO:0018583 "Orphanet:438279 UMLS:CN237612" MONDO:0100437 "A retinopathy caused by a variant in the X-linked gene, RPGR." MONDO:0004069 "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes." "MESH:D028361 Orphanet:68380 GARD:0007048 DOID:700" MONDO:0008848 "Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects." "HP:0011709 ICD9:426.89 OMIM:209600 SCTID:50799005 MESH:D006327" MONDO:0011013 "Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene." "OMIM:601198 Orphanet:428 Orphanet:263417 Orphanet:2238 Orphanet:112 DOID:0090107" -MONDO:0008723 "An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." "NCIT:C98647 UMLS:C3887523 ICD10:E71.310 SCTID:237997005 DOID:0080155 GARD:0005508 OMIM:201475 ICD10:E71.3 Orphanet:26793" -MONDO:0007380 "Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." "SCTID:419197009 UMLS:C1690006 GARD:0009678 UMLS:CN207224 OMIM:608471 MESH:C537881 Orphanet:98964 OMIM:122200 ICD10:H18.5" +MONDO:0008723 "An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." "NCIT:C98647 UMLS:C3887523 SCTID:237997005 DOID:0080155 ICD10CM:E71.3 ICD10CM:E71.310 GARD:0005508 OMIM:201475 Orphanet:26793" +MONDO:0007380 "Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." "ICD10CM:H18.5 SCTID:419197009 UMLS:C1690006 GARD:0009678 UMLS:CN207224 OMIM:608471 MESH:C537881 Orphanet:98964 OMIM:122200" MONDO:0016186 "Orphanet:209038" -MONDO:0015745 "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality." "UMLS:CN200295 ICD10:Q04.3 Orphanet:171703" +MONDO:0015745 "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality." "UMLS:CN200295 ICD10CM:Q04.3 Orphanet:171703" MONDO:0023263 "HGNC:4141 GARD:0002510 MESH:C536837 UMLS:C1291264" -MONDO:0013300 "Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)" "ICD10:Q18.4 OMIM:613545 ICD9:744.83 SCTID:40159009 Orphanet:141276 MESH:D008265" +MONDO:0013300 "Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)" "OMIM:613545 ICD9:744.83 SCTID:40159009 Orphanet:141276 MESH:D008265 ICD10CM:Q18.4" MONDO:0002395 "An adenoma arising from the renal cortex." "DOID:2697 NCIT:C8383 UMLS:C0334684" SO:0000673 "An RNA synthesized on a DNA or RNA template by an RNA polymerase." UBERON:0010294 @@ -2916,58 +2915,58 @@ MONDO:0004360 "An osteosarcoma arising from the breast tissue." "NCIT:C5189 DOID MONDO:0008539 GO:0031974 "The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen." MONDO:0044718 "UMLS:CN603947 OMIM:617762 Orphanet:502444" -MONDO:0012368 "Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms." "UMLS:C1835922 GARD:0009741 EFO:1001981 SCTID:709282004 ICD10:E72.8 OMIM:609924 Orphanet:137754 MESH:C538246 ICD9:270.8" +MONDO:0012368 "Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms." "UMLS:C1835922 GARD:0009741 EFO:1001981 SCTID:709282004 OMIM:609924 Orphanet:137754 MESH:C538246 ICD10CM:E72.8 ICD9:270.8" MONDO:0018364 "An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor." "SCTID:254849005 DOID:2151 Orphanet:398934 GARD:0009362 NCIT:C40026 MESH:C538090" -MONDO:0005661 "Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms." "NCIT:C84581 Orphanet:108 UMLS:C0004576 MESH:D001404 ICD10:B60.0 EFO:0007162 ICD9:088.82 MedDRA:10003965 GARD:0005878 SCTID:21061004 DOID:9643" +MONDO:0005661 "Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms." "NCIT:C84581 Orphanet:108 UMLS:C0004576 MESH:D001404 EFO:0007162 ICD9:088.82 MedDRA:10003965 GARD:0005878 SCTID:21061004 DOID:9643 ICD10CM:B60.0" NCBITaxon:33988 "PMID:8240958 PMID:11760958 GC_ID:11" MONDO:0020842 "OBSOLETE. Medullary carcinoma may refer to one of several different tumors of epithelial origin. As the term 'medulla' is a generic anatomic descriptor for the mid-layer of various organ tissues, a medullary tumor usually arises from the 'mid-layer tissues' of the relevant organ." "NCIT:C8998" -MONDO:0018746 "Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane." "ICD9:694.6 MedDRA:10057052 EFO:1000680 SCTID:76092003 Orphanet:46486 ICD10:L12.1 ICD9:694.61 DOID:11656 NCIT:C34907 GARD:0005913 OMIM:164185" -MONDO:0014287 "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34." "DOID:0110095 Orphanet:474 UMLS:C3810200 ICD10:Q77.2 OMIM:615633 Orphanet:93271" +MONDO:0018746 "Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane." "ICD9:694.6 MedDRA:10057052 EFO:1000680 SCTID:76092003 Orphanet:46486 ICD9:694.61 DOID:11656 NCIT:C34907 ICD10CM:L12.1 GARD:0005913 OMIM:164185" +MONDO:0014287 "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34." "DOID:0110095 Orphanet:474 UMLS:C3810200 OMIM:615633 Orphanet:93271" GO:0044281 "The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule." -MONDO:0016554 "Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates." "UMLS:CN226956 Orphanet:238688 ICD10:P72.2 GARD:0003025" -MONDO:0013028 "Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue." "MESH:C538234 Orphanet:45 SCTID:9105005 ICD10:G71.3 ICD9:277.2 OMIM:612874 OMIM:615511" +MONDO:0016554 "Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates." "UMLS:CN226956 Orphanet:238688 GARD:0003025 ICD10CM:P72.2" +MONDO:0013028 "Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue." "MESH:C538234 Orphanet:45 ICD10CM:G71.3 SCTID:9105005 ICD9:277.2 OMIM:612874 OMIM:615511" MONDO:0019077 "A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug." "UMLS:C0334063 NCIT:C4087 Orphanet:69745 MedDRA:10068856 SCTID:254676008" -MONDO:0017382 "OMIM:119800 UMLS:CN203109 ICD10:Q66.8 Orphanet:293144" +MONDO:0017382 "OMIM:119800 UMLS:CN203109 ICD10CM:Q66.8 Orphanet:293144" CL:0019001 "Any serous secreting cell that is part of the tracheobronchial epithelium." MONDO:0016185 "Orphanet:209033" -MONDO:0008265 "A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver." "OMIM:174050 UMLS:C4255088 MedDRA:10010427 Orphanet:2924 ICD10:Q44.6 UMLS:C0158683 MedDRA:10048834 SCTID:716196007 OMIM:617004" +MONDO:0008265 "A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver." "OMIM:174050 UMLS:C4255088 MedDRA:10010427 Orphanet:2924 ICD10CM:Q44.6 UMLS:C0158683 MedDRA:10048834 SCTID:716196007 OMIM:617004" MONDO:0021964 "MESH:C537796 UMLS:C2931616 GARD:0000398" GO:0042362 "The chemical reactions and pathways resulting in the formation of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water." MONDO:0015820 "Orphanet:178563 SCTID:402881008 UMLS:C1274310 ICD9:202.80" MONDO:0009927 "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene." "MESH:C535586 DOID:0060576 Orphanet:293843 EFO:1001977 Orphanet:2998 OMIM:265050" -MONDO:0019390 "Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear." "MedDRA:10071573 ICD10:I67.7 ICD9:348.39 EFO:1001856 GARD:0007713 UMLS:C2717757 SCTID:702575003 MESH:D055955 NCIT:C116363 Orphanet:838" +MONDO:0019390 "Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear." "MedDRA:10071573 ICD9:348.39 EFO:1001856 GARD:0007713 UMLS:C2717757 SCTID:702575003 ICD10CM:I67.7 MESH:D055955 NCIT:C116363 Orphanet:838" http://identifiers.org/hgnc/14153 -MONDO:0006170 "Any disorder of the conjunctiva." "DOID:4251 EFO:1000203 NCIT:C27605" +MONDO:0006170 "Any disorder of the conjunctiva." "DOID:4251 ICD10CM:H10-H11 EFO:1000203 NCIT:C27605" UBERON:0010295 NCBITaxon:32524 "GC_ID:1" -MONDO:0020506 "ICD10:E75.2 OMIM:603896 OMIM:615889 UMLS:C1847967 Orphanet:99853" +MONDO:0020506 "OMIM:603896 OMIM:615889 ICD10CM:E75.2 UMLS:C1847967 Orphanet:99853" NCBITaxon:203397 "GC_ID:1" -MONDO:0018580 "OMIM:616158 UMLS:CN237608 ICD10:G40.4 Orphanet:438213" -MONDO:0016043 "Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base." "Orphanet:199302 OMIM:600757 OMIM:608371 ICD10:Q36.1 OMIM:129400 ICD10:Q36.9 OMIM:602966 ICD10:Q36.0 MedDRA:10009259 OMIM:608874 OMIM:225060 OMIM:119530 OMIM:612858 OMIM:610361" +MONDO:0018580 "OMIM:616158 UMLS:CN237608 Orphanet:438213 ICD10CM:G40.4" +MONDO:0016043 "Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base." "Orphanet:199302 OMIM:600757 OMIM:608371 OMIM:129400 ICD10CM:Q36.1 OMIM:602966 ICD10CM:Q36.9 MedDRA:10009259 ICD10CM:Q36.0 OMIM:608874 OMIM:225060 OMIM:119530 OMIM:612858 OMIM:610361" MONDO:0044717 "Orphanet:502437" -MONDO:0001763 "A malignant neoplasm involving the ethmoid sinus." "DOID:1363 ICD10:C31.1 NCIT:C3541 UMLS:C0153477 ICD9:160.3 SCTID:363426009" +MONDO:0001763 "A malignant neoplasm involving the ethmoid sinus." "DOID:1363 NCIT:C3541 ICD10CM:C31.1 UMLS:C0153477 ICD9:160.3 SCTID:363426009" CL:0000312 "An epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell." "CALOHA:TS-0500 BTO:0000667 FMA:62879" -MONDO:0001369 "Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes." "DOID:11797 ICD9:476.0 NCIT:C26975 UMLS:C0155836 SCTID:29951006 ICD10:J37.0" +MONDO:0001369 "Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes." "DOID:11797 ICD9:476.0 NCIT:C26975 UMLS:C0155836 SCTID:29951006 ICD10CM:J37.0" UBERON:0000203 MONDO:0003674 "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart." "UMLS:C0262568 DOID:5849 NCIT:C35305" UBERON:0002600 MONDO:0005344 "A viral infection caused by the hepatitis B virus." "MESH:D006509 EFO:0004197 SCTID:66071002 DOID:2043 MESH:D019694 ICD9:070.30 UMLS:C0019163 NCIT:C3097" -MONDO:0019587 "Autosomal dominant form of nonsyndromic deafness." "Orphanet:90635 OMIM:600652 OMIM:606705 OMIM:601317 ICD10:H90.3 OMIM:616968 OMIM:606282 OMIM:615649 OMIM:606346 OMIM:607017 OMIM:124900 OMIM:600965 OMIM:607841 OMIM:603622 OMIM:615654 OMIM:603964 OMIM:612642 OMIM:608641 OMIM:607197 OMIM:608645 OMIM:601316 OMIM:600101 OMIM:614614 OMIM:609129 OMIM:616969 OMIM:606451 OMIM:601544 OMIM:607683 OMIM:616044 OMIM:605583 OMIMPS:124900 OMIM:614152 OMIM:616340 OMIM:607453 OMIM:608652 OMIM:602459 OMIM:616357 OMIM:608224 OMIM:614211 OMIM:601369 OMIM:615629 OMIM:612644 UMLS:CN043649 OMIM:608394 OMIM:601868 OMIM:600994 OMIM:601543 OMIM:609965 OMIM:612431 OMIM:613074 OMIM:616697 DOID:0050564 OMIM:608372 OMIM:606012 OMIM:601412 OMIM:616707 OMIM:604717 OMIM:612643 OMIM:605192 OMIM:613558" +MONDO:0019587 "Autosomal dominant form of nonsyndromic deafness." "Orphanet:90635 OMIM:600652 OMIM:606705 OMIM:601317 OMIM:616968 OMIM:606282 OMIM:615649 OMIM:606346 OMIM:607017 OMIM:124900 OMIM:600965 OMIM:607841 OMIM:603622 OMIM:615654 OMIM:603964 OMIM:612642 OMIM:608641 OMIM:607197 OMIM:608645 OMIM:601316 OMIM:600101 OMIM:614614 OMIM:609129 OMIM:616969 OMIM:606451 ICD10CM:H90.3 OMIM:601544 OMIM:607683 OMIM:616044 OMIM:605583 OMIMPS:124900 OMIM:614152 OMIM:616340 OMIM:607453 OMIM:608652 OMIM:602459 OMIM:616357 OMIM:608224 OMIM:614211 OMIM:601369 OMIM:615629 OMIM:612644 UMLS:CN043649 OMIM:608394 OMIM:601868 OMIM:600994 OMIM:601543 OMIM:609965 OMIM:612431 OMIM:613074 OMIM:616697 DOID:0050564 OMIM:608372 OMIM:606012 OMIM:601412 OMIM:616707 OMIM:604717 OMIM:612643 OMIM:605192 OMIM:613558" UBERON:0005362 MONDO:0020210 "A hyperopia that is part of a larger syndrome." "UMLS:CN227820 Orphanet:98622" -MONDO:0017383 "OMIM:119800 ICD10:Q66.8 Orphanet:293150 UMLS:CN203110" +MONDO:0017383 "OMIM:119800 Orphanet:293150 ICD10CM:Q66.8 UMLS:CN203110" GO:0016301 "Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule." -MONDO:0005249 "An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness." "ICD9:486 NCIT:C3333 ICD9:483 ICD10:J15 EFO:0003106 DOID:552 UMLS:C0032285 ICD10:J18.9 MESH:D011014 ICD9:483.8 SCTID:233604007 ICD9:484.8" +MONDO:0005249 "An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness." "ICD9:486 NCIT:C3333 ICD9:483 EFO:0003106 DOID:552 ICD10CM:J09-J18 UMLS:C0032285 MESH:D011014 ICD9:483.8 SCTID:233604007 ICD9:484.8 ICD10CM:J18.9" MONDO:0016184 "Orphanet:209030" http://identifiers.org/hgnc/10457 NCBITaxon:32523 "GC_ID:1" -MONDO:0020507 "UMLS:C1858991 ICD10:E75.2 Orphanet:99854 OMIM:603896" +MONDO:0020507 "UMLS:C1858991 ICD10CM:E75.2 Orphanet:99854 OMIM:603896" MONDO:0044716 -MONDO:0008428 "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." "NCIT:C85063 MESH:D025962 ICD10:Q04.8 GARD:0007627 Orphanet:95494 SCTID:7611002 UMLS:C0338503 DOID:0060857 OMIM:182230 MedDRA:10067159 UMLS:C0162809 Orphanet:3157" -MONDO:0018135 "Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS)." "OMIM:203100 OMIM:606952 SCTID:765146000 Orphanet:352731 GARD:0004037 UMLS:CN119529 ICD10:E70.3" +MONDO:0008428 "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." "NCIT:C85063 MESH:D025962 GARD:0007627 Orphanet:95494 SCTID:7611002 ICD10CM:Q04.8 UMLS:C0338503 DOID:0060857 OMIM:182230 MedDRA:10067159 UMLS:C0162809 Orphanet:3157" +MONDO:0018135 "Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS)." "OMIM:203100 OMIM:606952 SCTID:765146000 Orphanet:352731 GARD:0004037 UMLS:CN119529 ICD10CM:E70.3" CHEBI:61655 "Any saponin derived from a hydroxysteroid." -MONDO:0008537 "ICD10:Q10.3 OMIM:187350 Orphanet:98575 MESH:C562941" -MONDO:0018581 "Orphanet:438266 UMLS:C1861457 GARD:0013110 ICD10:G04.8 OMIM:184850" +MONDO:0008537 "ICD10CM:Q10.3 OMIM:187350 Orphanet:98575 MESH:C562941" +MONDO:0018581 "Orphanet:438266 ICD10CM:G04.8 UMLS:C1861457 GARD:0013110 OMIM:184850" GO:1903531 "Any process that stops, prevents or reduces the frequency, rate or extent of secretion by cell." MONDO:0020765 "OMIM:618184" NCBITaxon:151341 "GC_ID:1" @@ -2978,7 +2977,7 @@ NCBITaxon:2732007 "GC_ID:1" MONDO:0016183 "Orphanet:209027" CHEBI:32863 "A compound formally derived from ammonia by replacing two hydrogen atoms by hydrocarbyl groups." MONDO:0001245 "Anemia in which the red blood cell volume is decreased." "NCIT:C35141 HP:0001935 OMIM:206200 DOID:11252 SCTID:234349007 MESH:C562385" -MONDO:0007345 "Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps." "SCTID:7305005 OMIM:120000 MedDRA:10009807 NCIT:C84567 ICD10:Q25.1 MESH:D001017 Orphanet:1457 UMLS:C0003492 EFO:1001267 ICD9:747.10 GARD:0005828" +MONDO:0007345 "Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps." "ICD10CM:Q25.1 SCTID:7305005 OMIM:120000 MedDRA:10009807 NCIT:C84567 MESH:D001017 Orphanet:1457 UMLS:C0003492 EFO:1001267 ICD9:747.10 GARD:0005828" MONDO:0023000 "GARD:0001895" UBERON:0010031 MONDO:0044715 "Orphanet:502430" @@ -2987,15 +2986,15 @@ MONDO:0020766 "OMIM:618186" HP:0000752 "Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate." "SNOMEDCT_US:44548000 MSH:D006948 UMLS:C0424295" MONDO:0002805 "A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma." "DOID:3896 SCTID:253020008 NCIT:C7563 NCIT:C7560" UBERON:0001663 -MONDO:0016018 "Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother." "OMIM:601759 Orphanet:1926 SCTID:716020005 UMLS:C3830518 ICD10:P00.4 NCIT:C113485" -MONDO:0014525 "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene." "DOID:0111500 Orphanet:444013 EFO:0009033 UMLS:C4015447 OMIM:616198 ICD10:I42.2" +MONDO:0016018 "Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother." "OMIM:601759 Orphanet:1926 SCTID:716020005 UMLS:C3830518 ICD10CM:P00.4 NCIT:C113485" +MONDO:0014525 "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene." "DOID:0111500 Orphanet:444013 ICD10CM:I42.2 EFO:0009033 UMLS:C4015447 OMIM:616198" CHEBI:38196 "Any member of the class of pyridines carrying a hydroxymethyl substituent at unspecified position." CL:0002265 "A D cell located in the colon." "FMA:268744" CHEBI:50683 "An EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor that interferes with the action of dihydrofolate reductase (EC 1.5.1.3)." MONDO:0024465 "Orphanet:217566 OMIM:610913 Orphanet:440392" UBERON:0000467 NCBITaxon:562 "GC_ID:11 PMID:10319482" -MONDO:0014420 "Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity." "ICD10:E34.3 SCTID:721074002 OMIM:615961 Orphanet:140941 UMLS:C3900122" +MONDO:0014420 "Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity." "SCTID:721074002 OMIM:615961 ICD10CM:E34.3 Orphanet:140941 UMLS:C3900122" MONDO:0016182 "Orphanet:209024" GO:0060455 "Any process that decreases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion." HP:0002733 "A lymph node abnormality." "UMLS:C0149727" @@ -3003,33 +3002,33 @@ MONDO:0014454 "Any Hennekam syndrome in which the cause of the disease is a muta http://identifiers.org/hgnc/14154 UBERON:0010032 MONDO:0021127 "An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features." -MONDO:0008638 "A vascular disease characterized by the presence of enlarged and tortuous veins." "OMIM:192200 MESH:D014648 SCTID:128060009 ICD10:I83.90 ICD9:454.9 ICD9:456.8 NCIT:C35114 UMLS:C0042345 DOID:799" +MONDO:0008638 "A vascular disease characterized by the presence of enlarged and tortuous veins." "OMIM:192200 MESH:D014648 SCTID:128060009 ICD9:454.9 ICD9:456.8 NCIT:C35114 UMLS:C0042345 DOID:799" MONDO:0044714 "Orphanet:502423 UMLS:CN484737 OMIM:617675" MONDO:0023267 "MESH:C537282 UMLS:C2931465" -MONDO:0002212 "A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing." "ICD10:A21.2 UMLS:C0339946 SCTID:45556008 ICD9:021.2 DOID:2122" +MONDO:0002212 "A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing." "UMLS:C0339946 SCTID:45556008 ICD9:021.2 DOID:2122" MONDO:0013568 "Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene." "OMIM:614090 Orphanet:166282" GO:0001957 "Direct ossification that occurs within mesenchyme or an accumulation of relatively unspecialized cells." -MONDO:0009253 "Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations." "OMIM:229850 MESH:C538070 SCTID:702432006 ICD10:Q87.8 ICD9:759.89 NCIT:C98932 UMLS:C0220730 GARD:0003699 Orphanet:2059" +MONDO:0009253 "Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations." "OMIM:229850 MESH:C538070 SCTID:702432006 ICD9:759.89 NCIT:C98932 UMLS:C0220730 GARD:0003699 ICD10CM:Q87.8 Orphanet:2059" MONDO:0013695 "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene." "DOID:0070273 Orphanet:144 OMIM:614331 UMLS:C1860896 MESH:C566039" -MONDO:0015725 "Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual." "Orphanet:1703 MESH:C535489 GARD:0001327 ICD10:Q92.1 SCTID:764466009 NCIT:C116319 UMLS:C2930917" +MONDO:0015725 "Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual." "Orphanet:1703 MESH:C535489 GARD:0001327 SCTID:764466009 ICD10CM:Q92.1 NCIT:C116319 UMLS:C2930917" MONDO:0100044 "UMLS:C4551987 OMIM:201180 MESH:C538186" MONDO:0014993 "Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene." "OMIM:617258 UMLS:C4310645 DOID:0080308" -MONDO:0011026 "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene." "GARD:0009733 OMIM:601277 Orphanet:313 DOID:0060712 MESH:C537264 ICD10:Q80.2" +MONDO:0011026 "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene." "GARD:0009733 OMIM:601277 Orphanet:313 DOID:0060712 MESH:C537264" GO:0045211 "A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane." GO:0051301 "The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells." UBERON:0000464 -MONDO:0018158 "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome." "UMLS:CN239350 MedDRA:10059396 DOID:0070329 Orphanet:35698 ICD10:G71.3 OMIMPS:603041" +MONDO:0018158 "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome." "ICD10CM:G71.3 UMLS:CN239350 MedDRA:10059396 DOID:0070329 Orphanet:35698 OMIMPS:603041" MONDO:0022067 "UMLS:C2930937 GARD:0001081 MESH:C535571" -MONDO:0019990 "Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases." "UMLS:C4273674 Orphanet:97566 ICD10:N03.6 GARD:0012740 SCTID:718192000" -MONDO:0014190 "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene." "DOID:0111496 Orphanet:369913 OMIM:615440 ICD10:E88.8 UMLS:C3809526" -MONDO:0013189 "A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair." "SCTID:17155009 MESH:D014256 DOID:0050587 ICD9:312.39 ICD10:F63.3 OMIM:613229 GARD:0007803 NCIT:C94336" +MONDO:0019990 "Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases." "UMLS:C4273674 Orphanet:97566 GARD:0012740 ICD10CM:N03.6 SCTID:718192000" +MONDO:0014190 "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene." "ICD10CM:E88.8 DOID:0111496 Orphanet:369913 OMIM:615440 UMLS:C3809526" +MONDO:0013189 "A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair." "SCTID:17155009 MESH:D014256 DOID:0050587 ICD9:312.39 OMIM:613229 GARD:0007803 ICD10CM:F63.3 NCIT:C94336" CHEBI:33710 MONDO:0009089 "Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive." "UMLS:C1857333 MESH:C538049 Orphanet:3230 GARD:0001698 OMIM:221740" -MONDO:0017347 "An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone." "SCTID:724648008 NCIT:C7224 MESH:D000069293 ICDO:9735/3 ONCOTREE:PLBL Orphanet:289666 ICDO:9684/3 UMLS:C3472614 ICD10:C83.3 MedDRA:10065039 GARD:0012125" +MONDO:0017347 "An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone." "SCTID:724648008 NCIT:C7224 MESH:D000069293 ICDO:9735/3 ICD10CM:C83.3 ONCOTREE:PLBL Orphanet:289666 ICDO:9684/3 UMLS:C3472614 MedDRA:10065039 GARD:0012125" UBERON:0010299 MONDO:0016181 "UMLS:CN200931 Orphanet:209019" MONDO:0008843 "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed." "SCTID:720519003 Orphanet:1192 MESH:C565928 GARD:0002279 OMIM:209010" -MONDO:0008607 "Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant." "ICD10:Q74.8 UMLS:C1860804 MESH:C536564 OMIM:190680 Orphanet:2947 GARD:0005290" +MONDO:0008607 "Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant." "UMLS:C1860804 MESH:C536564 OMIM:190680 Orphanet:2947 GARD:0005290 ICD10CM:Q74.8" UBERON:0001665 MONDO:0044979 GO:0001944 "The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism." @@ -3037,7 +3036,7 @@ MONDO:0015122 "OBSOLETE. Rare diabetes mellitus." "Orphanet:101952 UMLS:CN226600 MONDO:0020768 "GARD:0001715 OMIMPS:304500" GO:0015669 "The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." NCBITaxon:10090 "GC_ID:1" -MONDO:0010967 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." "OMIM:600974 UMLS:C1832978 DOID:0110520 ICD10:H90.3 MESH:C563417" +MONDO:0010967 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." "OMIM:600974 UMLS:C1832978 DOID:0110520 MESH:C563417" NCBITaxon:186538 "GC_ID:1" UBERON:0035489 GO:2001224 "Any process that activates or increases the frequency, rate or extent of neuron migration." @@ -3054,7 +3053,7 @@ http://identifiers.org/hgnc/543 MONDO:0044978 http://identifiers.org/hgnc/1052 UBERON:0036422 -MONDO:0001150 "A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain." "ICD10:G91.9 DOID:10908 Orphanet:2182 OMIM:307000 NCIT:C3111 OMIM:123155 OMIM:236600 OMIM:236635 SCTID:230745008 MESH:D006849 OMIM:615219 Orphanet:2185 ICD10:G91" +MONDO:0001150 "A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain." "DOID:10908 Orphanet:2182 OMIM:307000 NCIT:C3111 OMIM:123155 OMIM:236600 OMIM:236635 ICD10CM:G91 SCTID:230745008 MESH:D006849 OMIM:615219 Orphanet:2185" UBERON:0004160 CL:0002097 "A cell of the adrenal cortex. Cell types include those that synthesize and secrete chemical derivatives (steroids) of cholesterol." "FMA:69545" MONDO:0006096 "An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear." "NCIT:C4654 SCTID:277158007 EFO:1000098 ICD9:621.33 UMLS:C0349579" @@ -3070,7 +3069,7 @@ GO:0001012 CHEBI:26743 "A sphingenine in which the C=C double bond is located at the 4-position." MONDO:0011918 "OMIM:607834" MONDO:0017126 "GARD:0004028 Orphanet:2716 UMLS:CN202523" -MONDO:0005580 "Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third." "Orphanet:99977 SCTID:276804009 ICD10:C15.3 ONCOTREE:ESCC DOID:5041 UMLS:C0279626 ICD10:C15.4 DOID:3748 OMIM:133239 EFO:0005922 ICD10:C15.1 ICD10:C15.0 SCTID:372138000 MESH:C562729 NCIT:C4024" +MONDO:0005580 "Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third." "Orphanet:99977 ICD10CM:C15.3 SCTID:276804009 ONCOTREE:ESCC DOID:5041 ICD10CM:C15.4 UMLS:C0279626 DOID:3748 OMIM:133239 EFO:0005922 SCTID:372138000 MESH:C562729 NCIT:C4024" MONDO:0002430 MONDO:0020774 "Orphanet:592574 OMIMPS:618332" MONDO:0012015 "GARD:0009600 MESH:C537855 UMLS:C1842186 OMIM:608345" @@ -3079,9 +3078,9 @@ MONDO:0010719 "MESH:C564066 OMIM:312210 UMLS:C1839408" MONDO:0044721 "OMIM:617514 UMLS:C4479588 Orphanet:504523" GO:0006935 "The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis)." CL:0002557 "A fibroblast of pulmonary artery." -MONDO:0008332 "Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." "NCIT:C131681 MESH:C536458 OMIM:177820 DOID:0111056 Orphanet:52530 ICD10:D69.8 GARD:0008312" +MONDO:0008332 "Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." "ICD10CM:D69.8 NCIT:C131681 MESH:C536458 OMIM:177820 DOID:0111056 Orphanet:52530 GARD:0008312" UBERON:0011234 -MONDO:0001232 "DOID:11232 ICD10:H05.02 UMLS:C0155258 ICD9:376.03 SCTID:65875003" +MONDO:0001232 "DOID:11232 UMLS:C0155258 ICD9:376.03 SCTID:65875003" MONDO:0018501 "OBSOLETE. Rare stomach carcinoma." "Orphanet:423771" MONDO:0024464 "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene." "GARD:0010601 UMLS:C2751608 OMIM:613038 Orphanet:95494 MESH:C567803" MONDO:0001342 "An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins." "MESH:D004406 SCTID:123782009 UMLS:C0013374 DOID:11702 HP:0002961" @@ -3089,15 +3088,15 @@ MONDO:0000034 MONDO:0006378 "Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns." "UMLS:C1709574 NCIT:C45662 EFO:1000484" MONDO:0013214 "OMIM:613291 UMLS:C2750087 MESH:C567652 Orphanet:449262" CHEBI:33719 -MONDO:0007042 "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." "SCTID:83015004 OMIM:101400 UMLS:C0175699 ICD10:Q87.0 MESH:D000168 DOID:14768 Orphanet:794 NCIT:C75034 GARD:0007598 EFO:0007029" +MONDO:0007042 "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." "SCTID:83015004 OMIM:101400 UMLS:C0175699 MESH:D000168 DOID:14768 Orphanet:794 NCIT:C75034 GARD:0007598 EFO:0007029 ICD10CM:Q87.0" MONDO:0002431 NCBITaxon:45709 UBERON:0035228 -MONDO:0001497 "UMLS:C0042374 SCTID:198057005 ICD9:608.83 ICD10:N50.1 DOID:12335" +MONDO:0001497 "UMLS:C0042374 SCTID:198057005 ICD9:608.83 DOID:12335" MONDO:0024251 "A neurological syndrome caused by severe mercury poisoning." "SCTID:39640004 UMLS:CN200665" MONDO:0020775 "OMIM:618005" http://identifiers.org/hgnc/28303 -MONDO:0005969 "A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)" "SCTID:417607009 MESH:D004674 UMLS:C0014060 Orphanet:83484 EFO:0007495 ICD9:062.3 DOID:10845 MedDRA:10041896 ICD10:A83.3" +MONDO:0005969 "A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)" "SCTID:417607009 MESH:D004674 UMLS:C0014060 Orphanet:83484 EFO:0007495 ICD9:062.3 DOID:10845 MedDRA:10041896 ICD10CM:A83.3" MONDO:0000494 "A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis." "DOID:0050855 UMLS:C0151650 EFO:1001517 SCTID:197660000" UBERON:0000460 MONDO:0014679 "Orphanet:98889 Orphanet:268940 OMIM:616531 UMLS:C4225295" @@ -3106,28 +3105,28 @@ MONDO:0044720 "Orphanet:504476" MONDO:0003845 "A rare benign adipose tissue neoplasm of the corpus callosum." "UMLS:C1333160 NCIT:C5438 DOID:6294" http://identifiers.org/hgnc/19082 GO:0004872 -MONDO:0001231 "SCTID:65974003 UMLS:C0155257 ICD9:376.02 DOID:11231 ICD10:H05.03" +MONDO:0001231 "SCTID:65974003 UMLS:C0155257 ICD9:376.02 DOID:11231" http://identifiers.org/hgnc/29501 NCBITaxon:2732005 "GC_ID:1" -MONDO:0012160 "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive." "MESH:C563825 GARD:0010647 ICD10:Q77.8 OMIM:608940 Orphanet:85167 UMLS:C1837073" -MONDO:0019982 "Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." "MESH:D021782 GARD:0009517 Orphanet:97364 ICD10:Q61.4 SCTID:717749002" +MONDO:0012160 "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive." "MESH:C563825 GARD:0010647 OMIM:608940 Orphanet:85167 UMLS:C1837073 ICD10CM:Q77.8" +MONDO:0019982 "Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." "MESH:D021782 GARD:0009517 ICD10CM:Q61.4 Orphanet:97364 SCTID:717749002" NCBITaxon:213849 "PMID:16403855 GC_ID:11" MONDO:0011786 "Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." "SCTID:61582004 EFO:0003956 NCIT:C79532 ICD9:477 OMIM:607154 UMLS:C2607914 ICD9:477.9 HP:0003193 DOID:4481 EFO:0005854 ICD9:477.8" CHEBI:55324 "A drug used for its effects on the gastrointestinal system, e.g. controlling gastric acidity, regulating gastrointestinal motility and water flow, and improving digestion." MONDO:0019523 MONDO:0022007 "A condition resulting from the excessive retention of water with sodium depletion." "SCTID:71785001 MESH:D014869 UMLS:C0043049" -MONDO:0011466 "Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors." "ICD10:G71.0 UMLS:CN205368 Orphanet:603 GARD:0005552 OMIM:604454" +MONDO:0011466 "Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors." "ICD10CM:G71.0 UMLS:CN205368 Orphanet:603 GARD:0005552 OMIM:604454" MONDO:0002796 "A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course." "NCIT:C9497 DOID:3868 MESH:D008527 UMLS:C1275668 ONCOTREE:MMBL" MONDO:0000033 HP:0000520 "An eye that is protruding anterior to the plane of the face to a greater extent than is typical." "UMLS:C1862425 UMLS:C1837760 MSH:D005094 UMLS:C1848490 SNOMEDCT_US:18265008 UMLS:C0015300" UBERON:0010039 MONDO:0024659 "A Kaposi sarcoma that arises from the colon or rectum." "UMLS:C3272833 NCIT:C96510" -MONDO:0014414 "OMIM:615952 ICD10:M35.8 Orphanet:438159 UMLS:C4014795" -MONDO:0004944 "Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia." "ICD10:A52.3 GARD:0008729 DOID:9988 ICD9:094.9 NCIT:C84935 SCTID:26039008 ICD9:094.89 ICD9:094 UMLS:C0027927" +MONDO:0014414 "OMIM:615952 ICD10CM:M35.8 Orphanet:438159 UMLS:C4014795" +MONDO:0004944 "Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia." "ICD10CM:A52.3 GARD:0008729 DOID:9988 ICD9:094.9 NCIT:C84935 SCTID:26039008 ICD9:094.89 ICD9:094 UMLS:C0027927" MONDO:0043797 "Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.)." "MESH:D013119 EFO:1001919 Orphanet:90058 SCTID:90584004" -MONDO:0010862 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13." "ICD10:E10 UMLS:C1838261 DOID:0110743 MESH:C563959 OMIM:600319" +MONDO:0010862 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13." "UMLS:C1838261 DOID:0110743 MESH:C563959 OMIM:600319" MONDO:0013285 "Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene." "Orphanet:1572 UMLS:C3150740 OMIM:613495" -MONDO:0018589 "Orphanet:439232 ICD10:E85.8" +MONDO:0018589 "Orphanet:439232 ICD10CM:E85.8" ECTO:4000033 "A exposure event involving the interaction of an exposure receptor to decreased amount of pressure of water." UBERON:0000461 MONDO:0015828 "Orphanet:180062" @@ -3135,82 +3134,81 @@ NCBITaxon:1648030 "GC_ID:1" http://identifiers.org/hgnc/29502 MONDO:0001496 "ICD9:608.85 DOID:12333 SCTID:198064007" NCBITaxon:2732004 "GC_ID:1" -MONDO:0001230 "ICD9:376.00 ICD10:H05.00 ICD10:H05.0 DOID:11230 ICD9:376.0 SCTID:20551005" +MONDO:0001230 "ICD9:376.00 DOID:11230 ICD9:376.0 SCTID:20551005" GO:0045701 "Any process that stops, prevents, or reduces the frequency, rate or extent of spermatid nuclear differentiation." MONDO:0017125 -MONDO:0010041 "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy." "ICD10:G11.1 OMIM:270550 MESH:C536787 GARD:0004910 UMLS:C1849140 SCTID:702445005 DOID:0050946 Orphanet:98" +MONDO:0010041 "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy." "OMIM:270550 MESH:C536787 ICD10CM:G11.1 GARD:0004910 UMLS:C1849140 SCTID:702445005 DOID:0050946 Orphanet:98" MONDO:0000933 "A benign or malignant neoplasm that affects the subglottic area of the larynx." "NCIT:C4426 DOID:10069 SCTID:126696001 UMLS:C0345746" MONDO:0020777 "OMIM:618324" MONDO:0100097 "Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene." -MONDO:0020460 "Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies." "MEDDRA:10069495 GARD:5573 ICD10:D68.4 GARD:0005573 UMLS:C0272362 PMID:28028990 DOID:0111146 MedDRA:10069495 Orphanet:99147 SCTID:234451005" +MONDO:0020460 "Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies." "GARD:5573 UMLS:C0272362 GARD:0005573 PMID:28028990 DOID:0111146 MedDRA:10069495 Orphanet:99147 ICD10CM:D68.4 SCTID:234451005" MONDO:0000032 "DOID:0111297 OMIMPS:121210" UBERON:0010038 -MONDO:0018586 "Orphanet:439196 SCTID:762543009 UMLS:CN237615 ICD10:L53.8" -MONDO:0018320 "ICD10:Q87.8 OMIM:616817 OMIM:616033 Orphanet:391408 UMLS:CN204971" +MONDO:0018586 "Orphanet:439196 SCTID:762543009 ICD10CM:L53.8 UMLS:CN237615" +MONDO:0018320 "ICD10CM:Q87.8 OMIM:616817 OMIM:616033 Orphanet:391408 UMLS:CN204971" NCBITaxon:1648037 "GC_ID:1" MONDO:0014415 "MESH:C563653 OMIM:615953" http://identifiers.org/hgnc/11654 -MONDO:0008217 "Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis." "MESH:C566811 SCTID:719298001 OMIM:169550 ICD10:Q87.5 Orphanet:2839 UMLS:C1868508" +MONDO:0008217 "Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis." "MESH:C566811 SCTID:719298001 OMIM:169550 ICD10CM:Q87.5 Orphanet:2839 UMLS:C1868508" MONDO:0045044 "A disease or disorder that involves the ligament." "UMLS:C0263976 SCTID:60492000" MONDO:0043349 "A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present." "SCTID:238770007 NCIT:C4391 GARD:0010733 UMLS:C0343083" MONDO:0017122 "Orphanet:269573 UMLS:CN202475" -MONDO:0017388 "Orphanet:293208 UMLS:CN203119 ICD10:I77.4" MONDO:0000031 -MONDO:0006292 "A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." "MESH:D008654 GARD:0007026 OMIM:156240 UMLS:C1332338 ICD9:199.1 UMLS:C0812413 UMLS:C0025500 UMLS:C0278752 HP:0100001 MedDRA:10027406 SCTID:109378008 EFO:1000355 MESH:C562839 UMLS:C0345967 ICD10:C45.0 NCIT:C4456 ICDO:9050/3 Orphanet:50251 DOID:1790" +MONDO:0006292 "A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." "MESH:D008654 GARD:0007026 OMIM:156240 UMLS:C1332338 ICD9:199.1 UMLS:C0812413 UMLS:C0025500 UMLS:C0278752 HP:0100001 MedDRA:10027406 SCTID:109378008 EFO:1000355 MESH:C562839 UMLS:C0345967 NCIT:C4456 ICDO:9050/3 Orphanet:50251 DOID:1790" GO:0032881 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving polysaccharides." GO:0009081 "The chemical reactions and pathways involving amino acids containing a branched carbon skeleton, comprising isoleucine, leucine and valine." MONDO:0013131 "Autosomal dominant polycystic kidney disease caused by a mutation in PKD2." "UMLS:C2751306 NCIT:C123166 SCTID:253879006 OMIM:613095 DOID:0110859 Orphanet:730" http://identifiers.org/hgnc/29508 http://identifiers.org/hgnc/11653 MONDO:0020770 "OMIM:618387" -MONDO:0018587 "ICD10:P14.3 Orphanet:439202 UMLS:CN237616" +MONDO:0018587 "Orphanet:439202 UMLS:CN237616 ICD10CM:P14.3" GO:0050892 "Any process in which nutrients are taken up from the contents of the intestine." MONDO:0019102 "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive." "Orphanet:71267 SCTID:721089006 UMLS:CN205609" MONDO:0045068 "An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass." "UMLS:C1334769 NCIT:C5936" MONDO:0012731 "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene." "OMIM:611804 Orphanet:288 MESH:C567520 UMLS:C2678497" -MONDO:0019782 "Orphanet:94056 ICD10:Q74.0" -MONDO:0015825 "ICD10:E66.8 Orphanet:179490" +MONDO:0019782 "Orphanet:94056 ICD10CM:Q74.0" +MONDO:0015825 "ICD10CM:E66.8 Orphanet:179490" PO:0009085 "A portion of plant tissue (PO:0009007) that is the outer layer of a pericarp (PO:0009084)." "PO_GIT:511 PO_GIT:149" MONDO:0000478 "A dystonia that involves two or more unrelated body parts." "DOID:0050837" CL:0000828 "A progenitor cell of the thrombocyte, a nucleated blood cell involved in coagulation typically seen in birds and other non-mammalian vertebrates." -MONDO:0006645 "Any disease affecting more than one nerve." "NCIT:C26926 ICD9:357.5 ICD10:G62.1 UMLS:C0085677 DOID:14183 SCTID:7916009 MESH:D020269 EFO:1000803" +MONDO:0006645 "Any disease affecting more than one nerve." "ICD10CM:G62.1 NCIT:C26926 ICD9:357.5 UMLS:C0085677 DOID:14183 SCTID:7916009 MESH:D020269 EFO:1000803" MONDO:0000030 "OMIMPS:600513" MONDO:0000296 MONDO:0018584 CHEBI:38877 -MONDO:0010723 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene." "UMLS:C2681923 DOID:0110415 ICD10:H35.5 OMIM:312600 MESH:C567523 Orphanet:791" +MONDO:0010723 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene." "UMLS:C2681923 DOID:0110415 OMIM:312600 MESH:C567523 Orphanet:791" MONDO:0044982 "UMLS:C3662272 SCTID:609398007" -MONDO:0014502 "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections." "OMIM:616126 UMLS:C4015293 ICD10:D84.8 Orphanet:319563" +MONDO:0014502 "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections." "OMIM:616126 ICD10CM:D84.8 UMLS:C4015293 Orphanet:319563" MONDO:0020771 "OMIMPS:607250" HP:0025278 "Sweating provoked by cold temperature rather than by heat." -MONDO:0013757 "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene." "UMLS:C3280817 DOID:0070128 OMIM:614450 ICD10:E03.1 Orphanet:97927" +MONDO:0013757 "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene." "UMLS:C3280817 DOID:0070128 OMIM:614450 Orphanet:97927" MONDO:0016189 "Orphanet:209047" UBERON:0016398 -MONDO:0009514 "A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy." "Orphanet:2377 ICD10:Q87.8 SCTID:232059000 DOID:1930 GARD:0012635 MedDRA:10056710 SCTID:5619004 NCIT:C34760 OMIM:245800 UMLS:C0023138 ICD9:253.4 MESH:D007849" +MONDO:0009514 "A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy." "Orphanet:2377 SCTID:232059000 DOID:1930 GARD:0012635 MedDRA:10056710 ICD10CM:Q87.8 SCTID:5619004 NCIT:C34760 OMIM:245800 UMLS:C0023138 ICD9:253.4 MESH:D007849" MONDO:0017120 "Orphanet:269531 UMLS:CN202470" MONDO:0019785 GO:0014048 "Any process that modulates the frequency, rate or extent of the controlled release of glutamate." -MONDO:0020500 "Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure." "UMLS:C0024788 ICD9:078.89 EFO:0007358 SCTID:77503002 MESH:D008379 GARD:0009444 MedDRA:10026822 NCIT:C84883 ICD10:A98.3 DOID:4327 Orphanet:99826" -MONDO:0004696 "A in situ carcinoma that involves the larynx." "ICD9:231.0 DOID:9011 SCTID:92634009 NCIT:C9100 ICD10:D02.0 UMLS:C0154069" +MONDO:0020500 "Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure." "UMLS:C0024788 ICD9:078.89 EFO:0007358 SCTID:77503002 MESH:D008379 GARD:0009444 MedDRA:10026822 NCIT:C84883 DOID:4327 Orphanet:99826" +MONDO:0004696 "A in situ carcinoma that involves the larynx." "ICD9:231.0 DOID:9011 SCTID:92634009 NCIT:C9100 ICD10CM:D02.0 UMLS:C0154069" MONDO:0002690 -MONDO:0006533 "A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear." "UMLS:C0155490 MESH:D018424 DOID:10964 ICD9:385.3 NCIT:C3654 ICD10:H71 ICD9:385.33 EFO:1000678 SCTID:194339007 ICD9:385.32" +MONDO:0006533 "A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear." "UMLS:C0155490 MESH:D018424 DOID:10964 ICD9:385.3 NCIT:C3654 ICD9:385.33 ICD10CM:H71 EFO:1000678 SCTID:194339007 ICD9:385.32" GO:0042116 "A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor." HP:0011603 "Defect or defects of the morphogenesis of the aorta and pulmonary arteries." "UMLS:C0478012" MONDO:0044981 "ICD9:V15.09 SCTID:609397002 UMLS:C3662273" MONDO:0020675 "Disease of the large or small intestine that is caused by inadequate blood supply." "NCIT:C35212" -MONDO:0018585 "Orphanet:439175 ICD10:I63.5" +MONDO:0018585 "Orphanet:439175 ICD10CM:I63.5" GO:0006835 "The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." MONDO:0020772 "OMIM:607631 DOID:0111324" -MONDO:0001492 "ICD10:I27.1 ICD9:416.1 UMLS:C0152102 DOID:12325 SCTID:45650007" +MONDO:0001492 "ICD9:416.1 UMLS:C0152102 DOID:12325 SCTID:45650007 ICD10CM:I27.1" MONDO:0016188 "Orphanet:209044" UBERON:0016399 -MONDO:0016102 "A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP)." "UMLS:C0456517 Orphanet:206594 ICD10:G61.8 SCTID:277189006" +MONDO:0016102 "A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP)." "UMLS:C0456517 Orphanet:206594 SCTID:277189006 ICD10CM:G61.8" MONDO:0017121 "UMLS:CN202471 Orphanet:269546" HP:0002088 "Any structural anomaly of the lung." "SNOMEDCT_US:19829001 UMLS:C4021760 MSH:D008171 UMLS:C0024115" MONDO:0021971 MONDO:0015823 "Orphanet:179006" MONDO:0010174 "Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal." "SCTID:47719001 GARD:0007845 MESH:C536524 OMIM:277100 UMLS:C0268573" -MONDO:0019640 "Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying." "SCTID:253900005 MedDRA:10036369 UMLS:CN227669 ICD10:Q64.2 Orphanet:93110 NCIT:C99021 UMLS:C0238506 GARD:0007439 ICD9:753.8" +MONDO:0019640 "Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying." "SCTID:253900005 MedDRA:10036369 UMLS:CN227669 ICD10CM:Q64.2 Orphanet:93110 NCIT:C99021 UMLS:C0238506 GARD:0007439 ICD9:753.8" MONDO:0010712 "MESH:C538613 SCTID:237683004 GARD:0006737 Orphanet:90695 OMIM:312000 DOID:0111779" MONDO:0044980 MONDO:0010978 "OMIM:601004 MESH:C563407 UMLS:C1832917" @@ -3219,7 +3217,7 @@ MONDO:0005847 "Atelectasis of the right middle pulmonary lobe, with chronic pneu MONDO:0015940 "OBSOLETE. Any of the forms of rheumatologic disorder that have a rare incidence." "Orphanet:182231 UMLS:CN200530" MONDO:0008790 "MESH:C565952 OMIM:206400 UMLS:C1859785" MONDO:0040871 "A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders." "SCTID:15945005" -MONDO:0007185 "Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965." "MESH:C566228 UMLS:C1862319 OMIM:109300 Orphanet:1228 ICD10:Q68.1 GARD:0000813 SCTID:733093004" +MONDO:0007185 "Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965." "ICD10CM:Q68.1 MESH:C566228 UMLS:C1862319 OMIM:109300 Orphanet:1228 GARD:0000813 SCTID:733093004" CL:0002625 "A cell of the seminiferous tubule epithelium." GO:0009612 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus." GO:0120111 "All of the contents of a plasma membrane bounded neuron projection, excluding the plasma membrane surrounding the projection." @@ -3227,21 +3225,21 @@ GO:0043269 "Any process that modulates the frequency, rate or extent of the dire UBERON:0013637 http://identifiers.org/hgnc/17748 http://identifiers.org/hgnc/7150 -MONDO:0008323 "Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone." "MedDRA:10052313 ICD10:I15.1 MESH:D056929 GARD:0007381 DOID:0050477 OMIMPS:177200 UMLS:C0221043 NCIT:C84827 MedDRA:10037113 Orphanet:526 SCTID:707747007" +MONDO:0008323 "Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone." "MedDRA:10052313 ICD10CM:I15.1 MESH:D056929 GARD:0007381 OMIM:177200 DOID:0050477 OMIMPS:177200 UMLS:C0221043 NCIT:C84827 MedDRA:10037113 Orphanet:526 SCTID:707747007" http://identifiers.org/hgnc/27365 -MONDO:0020546 "A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation." "SCTID:402355000 GARD:0006544 MedDRA:10066260 NCIT:C4980 ICD9:279.51 Orphanet:99920 ICD10:D89.810 UMLS:C0856825 UMLS:C0018133 ICD10:T86.0" +MONDO:0020546 "A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation." "SCTID:402355000 GARD:0006544 MedDRA:10066260 NCIT:C4980 ICD10CM:D89.810 ICD9:279.51 Orphanet:99920 UMLS:C0856825 UMLS:C0018133 ICD10CM:T86.0" MONDO:0033948 "Orphanet:528663" GO:0070224 "Catalysis of the reaction: hydrogen sulfide + a quinone = S0 + a hydroquinone." MONDO:0007593 "OMIM:134300" MONDO:0002848 "A benign or malignant mesenchymal neoplasm arising from skeletal muscle." "DOID:4044 UMLS:C1335971 SCTID:699955004 ICD9:239.2 NCIT:C6514" -MONDO:0020511 "The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)" "Orphanet:99860 NCIT:C8644 ICD10:C91.0 UMLS:C0006413 ICDO:9836/3 ICD10:C83.5 OMIM:615545" +MONDO:0020511 "The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)" "Orphanet:99860 NCIT:C8644 UMLS:C0006413 ICD10CM:C83.5 ICDO:9836/3 OMIM:615545 ICD10CM:C91.0" GO:0006520 "The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells." MONDO:0007594 "UMLS:C1851378 MESH:C565026 OMIM:134400" -MONDO:0005972 "A febrile disease caused by streptococcus pneumoniae." "ICD9:482.39 EFO:0007499 ICD10:J13 ICD9:482.30 SCTID:233607000 UMLS:C0155862 ICD9:481 MESH:D011018 DOID:0040084" +MONDO:0005972 "A febrile disease caused by streptococcus pneumoniae." "ICD9:482.39 EFO:0007499 ICD9:482.30 SCTID:233607000 UMLS:C0155862 ICD9:481 MESH:D011018 ICD10CM:J13 DOID:0040084" UBERON:0022275 NCBITaxon:186540 "GC_ID:1" MONDO:0000417 "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years." "DOID:0050708" -MONDO:0011067 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22." "UMLS:C1832394 DOID:0110467 ICD10:H90.3 OMIM:601386 MESH:C563327" +MONDO:0011067 "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22." "UMLS:C1832394 DOID:0110467 OMIM:601386 MESH:C563327" GO:0060341 "Any process that modulates the frequency, rate or extent of a process in which a cell, a substance, or a cellular entity is transported to, or maintained in a specific location within or in the membrane of a cell." MONDO:0003969 "Disorders related or resulting from use of amphetamines." "DOID:670 ICD9:305.7 SCTID:84758004 MESH:D019969 ICD9:305.70" MONDO:0003541 "An acute lymphoblastic leukemia occurring during adulthood." "NCIT:C4967 UMLS:C0751606 DOID:5604" @@ -3249,16 +3247,16 @@ MONDO:0032749 "OMIM:618434 DOID:0111641" MONDO:0012274 "OMIM:609441 MESH:C537913 GARD:0010077" UBERON:0013636 MONDO:0002439 -MONDO:0001056 "A primary or metastatic malignant neoplasm involving the stomach." "ICD9:151.4 ICD10:C16.9 ICD10:C16.6 ICD10:C16.5 UMLS:C0038356 UMLS:C0699791 OMIM:137215 ICD9:151.5 GARD:0007704 ICD10:C16 DOID:10534 ICD10:C16.2 ICD9:151.6 Orphanet:63443 ICD9:151 ICD9:151.9 NCIT:C9331 MESH:D013274 OMIM:613659 SCTID:126824007" -MONDO:0009475 "Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported." "OMIM:243500 ICD10:E71.1 DOID:14753 UMLS:C0268575 SCTID:87827003 NCIT:C98964 ICD10:E71.110 GARD:0000465 Orphanet:33 MESH:C538167" +MONDO:0001056 "A primary or metastatic malignant neoplasm involving the stomach." "ICD9:151.4 UMLS:C0038356 UMLS:C0699791 OMIM:137215 ICD9:151.5 GARD:0007704 DOID:10534 ICD9:151.6 Orphanet:63443 ICD9:151 ICD10CM:C16 ICD9:151.9 NCIT:C9331 MESH:D013274 OMIM:613659 SCTID:126824007" +MONDO:0009475 "Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported." "ICD10CM:E71.1 ICD10CM:E71.110 OMIM:243500 DOID:14753 UMLS:C0268575 SCTID:87827003 NCIT:C98964 GARD:0000465 Orphanet:33 MESH:C538167" HP:0000164 "Any abnormality of the teeth." "UMLS:C0262444 MSH:D014071 SNOMEDCT_US:422775003 UMLS:C0040427" HP:0008207 "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves." "SNOMEDCT_US:386584007 SNOMEDCT_US:363732003 UMLS:C0001403 UMLS:C0405580 MSH:D000224 SNOMEDCT_US:373662000" -MONDO:0013472 "OMIM:613869 Orphanet:280553 ICD10:G71.2 DOID:0080309 UMLS:C3151236" -MONDO:0012035 "Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner." "UMLS:C1842058 MESH:C564241 ICD10:Q87.0 SCTID:720816004 OMIM:608432 Orphanet:52054" +MONDO:0013472 "OMIM:613869 ICD10CM:G71.2 Orphanet:280553 DOID:0080309 UMLS:C3151236" +MONDO:0012035 "Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner." "ICD10CM:Q87.0 UMLS:C1842058 MESH:C564241 SCTID:720816004 OMIM:608432 Orphanet:52054" MONDO:0033947 "Orphanet:528647" CHR:9606-chrXp22 UBERON:0012437 -MONDO:0007757 "Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." "OMIM:144190 Orphanet:1336 MESH:C564172 ICD10:Q82.8 UMLS:C1840428" +MONDO:0007757 "Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." "OMIM:144190 Orphanet:1336 MESH:C564172 ICD10CM:Q82.8 UMLS:C1840428" MONDO:0007595 "MESH:C565025 OMIM:134430 UMLS:C1851377" MONDO:0022308 "A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment." "GARD:0000046 NCIT:C129069" MONDO:0014611 "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene." "UMLS:C4225348 DOID:0080136 OMIM:616370 Orphanet:457406" @@ -3268,8 +3266,8 @@ MONDO:0011078 "GARD:0003062 UMLS:C1832362 OMIM:601427 MESH:C537694" MONDO:0003024 "A malignant vascular neoplasm arising from the breast." "NCIT:C5184 GARD:0009974 MESH:C536368 UMLS:C1332614 DOID:4511 ONCOTREE:BA" http://identifiers.org/hgnc/25801 UBERON:0006558 -MONDO:0006532 "A cholesteatoma (disease) that involves the external ear." "EFO:1000677 SCTID:35247001 DOID:9462 ICD10:H60.4 ICD10:H60.40 ICD9:380.21 UMLS:C0155398" -MONDO:0011974 "A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21." "UMLS:C1842475 Orphanet:791 ICD10:H35.5 DOID:0110383 OMIM:608133 GARD:0010386" +MONDO:0006532 "A cholesteatoma (disease) that involves the external ear." "EFO:1000677 SCTID:35247001 DOID:9462 ICD10CM:H60.4 ICD9:380.21 UMLS:C0155398" +MONDO:0011974 "A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21." "UMLS:C1842475 Orphanet:791 DOID:0110383 OMIM:608133 GARD:0010386" MONDO:0013473 "MESH:C563939 OMIM:613870 UMLS:C3151237" MONDO:0013513 "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene." "Orphanet:334 OMIM:613980 UMLS:C3151431" ENVO:01001524 "Land which is below the freezing point of water." @@ -3282,27 +3280,27 @@ MONDO:0007596 GO:1904220 "Any process that modulates the frequency, rate or extent of serine C-palmitoyltransferase activity." MONDO:0001887 "A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix." "ICD9:620.6 DOID:14133 UMLS:C0152079 SCTID:69186005" CHR:9606-chr22q11 -MONDO:0011910 "Orphanet:265 SCTID:719986000 DOID:0110302 OMIM:607801 NCIT:C148318 UMLS:C1832567 GARD:0012527 MESH:C563362 ICD10:G71.0" +MONDO:0011910 "Orphanet:265 ICD10CM:G71.0 SCTID:719986000 DOID:0110302 OMIM:607801 NCIT:C148318 UMLS:C1832567 GARD:0012527 MESH:C563362" GO:0008015 "The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products." -MONDO:0017875 "Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations." "DOID:0050195 MedDRA:10005932 SCTID:67247008 ICD10:A96.1 Orphanet:319229 UMLS:C0282192" +MONDO:0017875 "Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations." "DOID:0050195 MedDRA:10005932 SCTID:67247008 Orphanet:319229 UMLS:C0282192" MONDO:0002322 "Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia." "SCTID:90858003 ICD9:537.83 DOID:2494 UMLS:C0085411 MESH:D016888" MONDO:0007013 "Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both." "DOID:4762 UMLS:C0243000 MESH:D018783 EFO:1001234" CL:2000079 "Any mesenchymal stem cell of the bone marrow that is part of a femur." -MONDO:0009379 "Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." "MedDRA:10039234 Orphanet:3111 GARD:0000218 OMIM:237450 UMLS:C0220991 ICD10:E80.6 SCTID:32891000" +MONDO:0009379 "Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." "MedDRA:10039234 Orphanet:3111 ICD10CM:E80.6 GARD:0000218 OMIM:237450 UMLS:C0220991 SCTID:32891000" NCBITaxon:11036 "GC_ID:1" -MONDO:0014345 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene." "UMLS:C4014312 ICD10:H35.5 OMIM:615780 DOID:0110410" -MONDO:0009892 "Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death." "OMIM:263400 MESH:C563918 UMLS:C1837915 Orphanet:238557 ICD10:D75.1 DOID:0060474" +MONDO:0014345 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene." "UMLS:C4014312 OMIM:615780 DOID:0110410" +MONDO:0009892 "Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death." "OMIM:263400 MESH:C563918 UMLS:C1837915 Orphanet:238557 DOID:0060474 ICD10CM:D75.1" MONDO:0043468 "A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent." "EFO:1001256 UMLS:C0001145 SCTID:238746008 NCIT:C34346 MESH:D000153" UBERON:0022278 UBERON:0005359 MONDO:0009992 "UMLS:C1849386 MESH:C564832 Orphanet:99845 OMIM:268200" CL:1000478 "A transitional myocyte that is part of the sinoatrial node." "FMA:83384" -MONDO:0008058 "Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated." "MESH:C563535 OMIM:160990 ICD10:G71.2 SCTID:764525006 GARD:0011906 UMLS:C1834418 DOID:0080103 Orphanet:171886" -MONDO:0011998 "Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene." "OMIM:608236 SCTID:764854006 ICD10:G60.0 MESH:C564269 UMLS:C1842357 Orphanet:140481" -MONDO:0014437 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene." "GARD:0010208 DOID:0110131 EFO:0009027 OMIM:615986 OMIM:209900 UMLS:C1859567 ICD10:Q87.89 MESH:C565918" +MONDO:0008058 "Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated." "MESH:C563535 OMIM:160990 SCTID:764525006 GARD:0011906 UMLS:C1834418 DOID:0080103 Orphanet:171886 ICD10CM:G71.2" +MONDO:0011998 "Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene." "OMIM:608236 SCTID:764854006 MESH:C564269 ICD10CM:G60.0 UMLS:C1842357 Orphanet:140481" +MONDO:0014437 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene." "GARD:0010208 DOID:0110131 EFO:0009027 OMIM:615986 OMIM:209900 UMLS:C1859567 MESH:C565918" UBERON:0016392 MONDO:0032746 "OMIM:618431" -MONDO:0018328 "OMIM:602247 OMIM:603813 SCTID:238078005 OMIM:143890 ICD10:E78.0 Orphanet:391665" +MONDO:0018328 "ICD10CM:E78.0 OMIM:602247 OMIM:603813 SCTID:238078005 OMIM:143890 Orphanet:391665" HP:0007513 "UMLS:C1849923" http://identifiers.org/hgnc/25808 MONDO:0003434 "A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation." "UMLS:C1519913 NCIT:C40256 DOID:5402" @@ -3311,15 +3309,15 @@ UBERON:0013632 CL:0002170 "A keratinized cell located in the hard palate or gingiva." HP:0000133 "MSH:D006060 UMLS:C0018051 SNOMEDCT_US:95219002 UMLS:C0687149 MSH:D006059 UMLS:C0018055 SNOMEDCT_US:38804009 SNOMEDCT_US:83579008 SNOMEDCT_US:205681004" MONDO:0011914 "UMLS:C1843004 MESH:C564327 Orphanet:69735 OMIM:607823 DOID:0111361" -MONDO:0009624 "An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy." "OMIM:251270 DOID:0080105 ICD10:Q87.8 OMIM:616335 Orphanet:2518 NCIT:C129306" +MONDO:0009624 "An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy." "OMIM:251270 DOID:0080105 OMIM:616335 ICD10CM:Q87.8 Orphanet:2518 NCIT:C129306" CHEBI:76924 "Any eukaryotic metabolite produced during a metabolic reaction in plants, the kingdom that include flowering plants, conifers and other gymnosperms." MONDO:0002563 "A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures." "UMLS:C1334297 DOID:3216 NCIT:C5787" MONDO:0004787 "A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells." "NCIT:C40215 UMLS:C1516427 DOID:9442" MONDO:0000039 MONDO:0008794 "UMLS:C4225670 OMIM:206600" GO:0015711 "The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage." -MONDO:0017278 "A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues." "UMLS:C4316913 NCIT:C84576 DOID:14040 NCIT:C129726 ICD9:258.8 ICD10:E31.0 UMLS:C0085409 SCTID:41864002 Orphanet:282196" -MONDO:0014225 "Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene." "Orphanet:447792 MESH:C565020 ICD10:E83.1 Orphanet:247790 DOID:0111031 UMLS:CN181217 UMLS:C1851316 UMLS:CN237708 OMIM:615517" +MONDO:0017278 "A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues." "UMLS:C4316913 ICD10CM:E31.0 NCIT:C84576 DOID:14040 NCIT:C129726 ICD9:258.8 UMLS:C0085409 SCTID:41864002 Orphanet:282196" +MONDO:0014225 "Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene." "ICD10CM:E83.1 Orphanet:447792 MESH:C565020 Orphanet:247790 DOID:0111031 UMLS:CN181217 UMLS:C1851316 UMLS:CN237708 OMIM:615517" HP:0002060 "Any structural abnormality of the telencephalon, which is also known as the cerebrum." "UMLS:C4021762" ECTO:0001566 "An exposure to cadmium molecular entity." CL:0000864 "A macrophage constitutively resident in a particular tissue under non-inflammatory conditions, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells." "FMA:84644 FMA:84642" @@ -3327,9 +3325,9 @@ NCBITaxon:11039 "GC_ID:1" MONDO:0010715 http://identifiers.org/hgnc/19087 UBERON:0022279 -MONDO:0019157 "Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS." "ICD9:238.72 SCTID:109998009 NCIT:C4036 EFO:0003812 Orphanet:75564 ICD10:D64.3 ICDO:9982/3" +MONDO:0019157 "Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS." "ICD10CM:D64.3 ICD9:238.72 SCTID:109998009 NCIT:C4036 EFO:0003812 Orphanet:75564 ICDO:9982/3" UBERON:0013631 -MONDO:0018329 "Orphanet:391711 ICD10:G24.1" +MONDO:0018329 "ICD10CM:G24.1 Orphanet:391711" CL:1000311 "A fat cell that is part of the epicardial fat of left ventricle." "FMA:261300" MONDO:0032745 "OMIM:618430" MONDO:0004188 "A spindle cell melanoma that involves the iris." "UMLS:C1334287 DOID:7328 NCIT:C6098" @@ -3341,50 +3339,49 @@ MONDO:0000038 MONDO:0008793 "UMLS:C1859783 GARD:0008587 OMIM:206570 MESH:C536367" MONDO:0009991 CHEBI:60643 "Any substance that inhibits the action of N-methyl-D-aspartate (NMDA) receptors. They tend to induce a state known as dissociative anesthesia, marked by catalepsy, amnesia, and analgesia, while side effects can include hallucinations, nightmares, and confusion. Due to their psychotomimetic effects, many NMDA receptor antagonists are used as recreational drugs." -MONDO:0044967 "A disease or disorder that involves the limb." "ICD9:V49.1 SCTID:128605003 UMLS:C1290877" MONDO:0012278 "Orphanet:683 MESH:C563717 UMLS:C1836148 OMIM:609454 Orphanet:240071" MONDO:0014876 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene." "UMLS:C4310755 OMIM:617028" GO:0010513 "Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol." GO:0002442 "The regulated release of serotonin by a cell as part of an inflammatory response." UBERON:0022276 -MONDO:0006038 "It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." "NCIT:C27110 UMLS:C0341332 ICD9:558.9 ICD10:K52.3 EFO:1000034 SCTID:235746007" +MONDO:0006038 "It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." "NCIT:C27110 UMLS:C0341332 ICD9:558.9 EFO:1000034 SCTID:235746007 ICD10CM:K52.3" MONDO:0032748 "OMIM:618433" UBERON:0013630 GO:0004749 "Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+)." -MONDO:0013238 "17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." "UMLS:C3150607 SCTID:719584008 ICD10:Q93.5 DOID:0060405 OMIM:613355 GARD:0010936 UMLS:C4304591 Orphanet:261279" -MONDO:0015409 "Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis." "SCTID:763317002 ICD10:Q67.4 Orphanet:141214" +MONDO:0013238 "17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." "UMLS:C3150607 SCTID:719584008 DOID:0060405 OMIM:613355 ICD10CM:Q93.5 GARD:0010936 UMLS:C4304591 Orphanet:261279" +MONDO:0015409 "Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis." "SCTID:763317002 ICD10CM:Q67.4 Orphanet:141214" MONDO:0000037 http://identifiers.org/hgnc/23406 MONDO:0013519 "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3." "DOID:0070017 Orphanet:1775 OMIM:613987 UMLS:C3151441" -MONDO:0017123 "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." "OMIM:613404 OMIMPS:208085 OMIM:208085 ICD10:Q89.7 SCTID:720513002 DOID:0050763 GARD:0000794 MESH:C535382 Orphanet:2697" +MONDO:0017123 "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." "OMIM:613404 OMIMPS:208085 OMIM:208085 ICD10CM:Q89.7 SCTID:720513002 DOID:0050763 GARD:0000794 MESH:C535382 Orphanet:2697" MONDO:0010136 "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene." "UMLS:C0342195 SCTID:17885001 MESH:C562770 Orphanet:95716 OMIM:274800" -MONDO:0006844 "A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)" "MESH:D008275 UMLS:C0024473 ICD10:E61.2 SCTID:238118002 EFO:1001029 MedDRA:10025433" +MONDO:0006844 "A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)" "MESH:D008275 UMLS:C0024473 SCTID:238118002 EFO:1001029 ICD10CM:E61.2 MedDRA:10025433" MONDO:0017128 "UMLS:CN202527 Orphanet:271835" MONDO:0007591 "MESH:C565029 HP:0002219 OMIM:134000" FOODON:03420237 "The pigmented blossom of a plant that contains the reproductive organs; a floret is a single flower of a multiple flowered inflorescence. Also includes flower buds."@en MONDO:0005200 "An dilated cardiomyopathy caused by infection with Viruses." "UMLS:C0264797 Wikipedia:Viral_cardiomyopathy EFO:0002629 SCTID:30496006" NCBITaxon:39824 "PMID:10555350 GC_ID:11" http://identifiers.org/hgnc/26169 -MONDO:0011489 "Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus." "Orphanet:100993 UMLS:C1858106 GARD:0009586 ICD10:G11.4 OMIM:604805 DOID:0110765 SCTID:763374004 MESH:C537484" +MONDO:0011489 "Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus." "ICD10CM:G11.4 Orphanet:100993 UMLS:C1858106 GARD:0009586 OMIM:604805 DOID:0110765 SCTID:763374004 MESH:C537484" UBERON:0022277 -MONDO:0011502 "Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene." "DOID:0110630 UMLS:C1858028 Orphanet:3463 MESH:C565733 OMIM:604928 ICD10:E13.8" +MONDO:0011502 "Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene." "DOID:0110630 UMLS:C1858028 Orphanet:3463 MESH:C565733 OMIM:604928" MONDO:0032747 "OMIM:618432" SO:0000704 "A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions." MONDO:0004392 "An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium." "NCIT:C5462 UMLS:C1334238 DOID:7903" GO:0016741 "Catalysis of the transfer of a one-carbon group from one compound (donor) to another (acceptor)." MONDO:0002478 "A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable." "UMLS:C1321220 DOID:2996 NCIT:C5241" -MONDO:0005172 "A disease involving the skeletal system." "UMLS:C0263661 SCTID:88230002 EFO:0002461" +MONDO:0005172 "A disease involving the skeletal system." "ICD10CM:M91-M94 UMLS:C0263661 SCTID:88230002 EFO:0002461" MONDO:0002699 GO:0030194 "Any process that activates or increases the frequency, rate or extent of blood coagulation." -MONDO:0013478 "Orphanet:280356 ICD10:E88.1 DOID:0070205 GARD:0012601 UMLS:C3151268 OMIM:613877" +MONDO:0013478 "Orphanet:280356 ICD10CM:E88.1 DOID:0070205 GARD:0012601 UMLS:C3151268 OMIM:613877" MONDO:0000036 -MONDO:0001122 "Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." "NCIT:C34477 SCTID:35923002 UMLS:C0008698 ICD10:J32.0 DOID:10792 ICD9:473.0" +MONDO:0001122 "Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." "NCIT:C34477 SCTID:35923002 UMLS:C0008698 ICD10CM:J32.0 DOID:10792 ICD9:473.0" MONDO:0011915 "OMIM:607829 UMLS:C1843003 MESH:C564326" HP:0001438 "A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax." "UMLS:C4020869" -MONDO:0008170 "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." "ICD10:C56 Orphanet:213500 GARD:0007295 SCTID:363443007 ICD9:183.0 SCTID:123843001 NCIT:C4984 OMIM:607893 OMIM:167000 MESH:D010051 DOID:2394 NCIT:C7431" -MONDO:0007592 "Orphanet:2809 ICD10:G51.0 UMLS:C1851399 MESH:C565028 OMIM:134200" -MONDO:0018102 "The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." "Orphanet:34533 MESH:D003317 NCIT:C34513 ICD9:371.50 ICD10:H18.50 MedDRA:10011005 DOID:2566 HP:0001131 UMLS:C0010036 ICD9:371.5 SCTID:5587004 ICD10:H18.5" -MONDO:0010662 "Paraplegia-intellectual disability-hyperkeratosis syndrome is characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition." "GARD:0002344 ICD10:G82.1 OMIM:309560 MESH:C537058 Orphanet:2824 UMLS:C2745996" +MONDO:0008170 "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." "Orphanet:213500 GARD:0007295 SCTID:363443007 ICD9:183.0 SCTID:123843001 NCIT:C4984 OMIM:607893 OMIM:167000 MESH:D010051 DOID:2394 NCIT:C7431" +MONDO:0007592 "Orphanet:2809 ICD10CM:G51.0 UMLS:C1851399 MESH:C565028 OMIM:134200" +MONDO:0018102 "The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." "Orphanet:34533 MESH:D003317 NCIT:C34513 ICD9:371.50 MedDRA:10011005 DOID:2566 HP:0001131 UMLS:C0010036 ICD9:371.5 SCTID:5587004" +MONDO:0010662 "Paraplegia-intellectual disability-hyperkeratosis syndrome is characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition." "GARD:0002344 OMIM:309560 MESH:C537058 Orphanet:2824 UMLS:C2745996" MONDO:0007347 "OMIM:120050 UMLS:C1861511" NCBITaxon:35278 "GC_ID:1" ECTO:0000001 "A exposure event involving the interaction of an exposure receptor to radiation." @@ -3393,14 +3390,14 @@ UBERON:7500094 http://identifiers.org/hgnc/7146 MONDO:0000299 "A disease caused by infection with Thelazia." "ICD9:128.8 UMLS:C0344058 DOID:0050261 SCTID:46477004" MONDO:0400004 "Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks." -MONDO:0005357 "A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease." "ICD9:046.1 GARD:0006956 ICD10:A81.00 SCTID:792004 ICD9:046.19 NCIT:C26802 ICD10:A81.0 EFO:0004226 DOID:11949 MESH:D007562 OMIM:123400" +MONDO:0005357 "A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease." "ICD9:046.1 GARD:0006956 SCTID:792004 ICD9:046.19 NCIT:C26802 EFO:0004226 DOID:11949 MESH:D007562 OMIM:123400" MONDO:0011806 "A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases." "MESH:C563787 Orphanet:488265 UMLS:C1836723 OMIM:607278 NCIT:C53970 MESH:C563276 UMLS:C1709353 OMIM:609143" -MONDO:0005546 "A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." "NCIT:C87497 EFO:0005687 MESH:D005356 SCTID:203082005 ICD10:M79.1 ICD9:729.1 Orphanet:41842 GARD:0012069 ICD10:M79.7 UMLS:C0016053 DOID:631" -MONDO:0018994 "A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome." "ICD9:356.9 Orphanet:64747 ICD10:G60.0 UMLS:CN205436 SCTID:230552007 GARD:0012444 DOID:0050542" +MONDO:0005546 "A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." "NCIT:C87497 EFO:0005687 MESH:D005356 SCTID:203082005 ICD9:729.1 Orphanet:41842 GARD:0012069 ICD10CM:M79.7 UMLS:C0016053 DOID:631" +MONDO:0018994 "A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome." "ICD9:356.9 Orphanet:64747 UMLS:CN205436 SCTID:230552007 GARD:0012444 ICD10CM:G60.0 DOID:0050542" MONDO:0030346 "OMIM:619466" MONDO:0002706 "Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding." "NCIT:C27623 UMLS:C0269107 DOID:361 SCTID:61640006" MONDO:0032741 "OMIM:618425" -MONDO:0017779 "Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." "ICD9:277.89 ICD10:E77.1 SCTID:238048001 OMIM:609242 Orphanet:3137 OMIM:609241" +MONDO:0017779 "Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." "ICD10CM:E77.1 ICD9:277.89 SCTID:238048001 OMIM:609242 Orphanet:3137 OMIM:609241" HP:0000553 "An abnormality of the uvea, the vascular layer of the eyeball." "UMLS:C4025842" MONDO:0010117 "Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene." "Orphanet:2616 OMIM:273750" CHEBI:32785 @@ -3414,10 +3411,10 @@ MONDO:0005493 "Anoxic encephalopathy resulting from acute CO intoxication, devel UBERON:0005356 HP:0100584 "An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves." "UMLS:C0014118 MSH:D004696 SNOMEDCT_US:56819008" GO:0005583 "Any triple helical collagen trimer that forms fibrils." -MONDO:0007039 "A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas." "NCIT:C3274 GARD:0007193 SCTID:92503002 Orphanet:637 DOID:0111252 ICD9:237.72 ICD10:Q85.02 ICD10:Q85.0 MedDRA:10029271 MedDRA:10000523 OMIM:101000 UMLS:C0027832" +MONDO:0007039 "A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas." "NCIT:C3274 ICD10CM:Q85.02 GARD:0007193 SCTID:92503002 Orphanet:637 DOID:0111252 ICD9:237.72 MedDRA:10029271 MedDRA:10000523 ICD10CM:Q85.0 OMIM:101000 UMLS:C0027832" NCBITaxon:570 "PMID:10555350 PMID:12635932 PMID:11411716 GC_ID:11" -MONDO:0024457 "GARD:0002751 GARD:0003957 Orphanet:35069 ICD10:G23.0 DOID:0110735 SCTID:52713000 OMIM:256600 MESH:C536071 OMIM:610217 NCIT:C84927 ICD9:330.8" -MONDO:0019387 "Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant." "UMLS:CN206081 ICD10:Q87.0 Orphanet:83619" +MONDO:0024457 "GARD:0002751 GARD:0003957 Orphanet:35069 DOID:0110735 SCTID:52713000 OMIM:256600 MESH:C536071 ICD10CM:G23.0 OMIM:610217 NCIT:C84927 ICD9:330.8" +MONDO:0019387 "Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant." "UMLS:CN206081 Orphanet:83619 ICD10CM:Q87.0" MONDO:0032740 "DOID:0111638 OMIM:618422" GO:0030219 "The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte." GO:0050810 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus." @@ -3442,30 +3439,30 @@ MONDO:0006375 "A hemangioma arising from the fetal blood vessels in the placenta NCBITaxon:573 "GC_ID:11 PMID:11411715 PMID:1581186" http://identifiers.org/hgnc/13806 MONDO:0023691 "A maple syrup urine disease caused by mutations in BCKDHA." "OMIM:248600 GARD:0008594" -MONDO:0017949 "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." "ICD10:I68.0* Orphanet:324723 OMIM:605714 ICD10:E85.4+" -MONDO:0007399 "Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene." "OMIM:123100 SCTID:57219006 Orphanet:35099 UMLS:C0010278 UMLS:CN029978 Orphanet:35093 Orphanet:63440" +MONDO:0017949 "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." "ICD10EXP:E85.4+ ICD10EXP:I68.0* Orphanet:324723 OMIM:605714" +MONDO:0007399 "Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene." "OMIM:123100 SCTID:57219006 Orphanet:35099 UMLS:C0010278 UMLS:CN029978 Orphanet:63440 Orphanet:35093" MONDO:0002951 "A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern." "ICDO:8098/3 NCIT:C27535 SCTID:402525008 DOID:4294" -MONDO:0010039 "Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." "UMLS:C0796162 ICD10:Q87.8 Orphanet:1355 GARD:0004905 MESH:C536680 SCTID:715987000 OMIM:270460" +MONDO:0010039 "Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." "UMLS:C0796162 Orphanet:1355 GARD:0004905 ICD10CM:Q87.8 MESH:C536680 SCTID:715987000 OMIM:270460" NCBITaxon:11040 "GC_ID:1" MONDO:0006141 "A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern." "UMLS:C4289808 EFO:1000170 NCIT:C40208 DOID:8338 ONCOTREE:VGCE" UBERON:0005358 HP:0003202 "The presence of skeletal muscular atrophy (which is also known as amyotrophy)." "MSH:D009133 UMLS:C0234958 SNOMEDCT_US:74035001 UMLS:C1843479 UMLS:C0541794 UMLS:C0270948" MONDO:0006120 "Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)." "UMLS:C0342190 EFO:1000147 NCIT:C46100" -MONDO:0005151 "A disease involving the endocrine system." "NCIT:C3009 SCTID:362969004 UMLS:C0014130 EFO:0001379 DOID:28 MESH:D004700 ICD10:E34.9 ICD9:259.8 ICD9:259.9" +MONDO:0005151 "A disease involving the endocrine system." "SCTID:362969004 ICD10CM:E20-E35 ICD9:259.9 ICD10CM:E00-E89 NCIT:C3009 ICD10CM:P70-P74 MESH:D004700 EFO:0001379 UMLS:C0014130 DOID:28 ICD9:259.8" CL:0000354 "ncithesaurus:Blastemal_Cell" http://identifiers.org/hgnc/23657 http://identifiers.org/hgnc/1044 -MONDO:0019123 "Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." "UMLS:C3806403 OMIM:245570 UMLS:CN205644 ICD10:F80.3 Orphanet:725 UMLS:CN181337" +MONDO:0019123 "Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development." "UMLS:C3806403 OMIM:245570 UMLS:CN205644 Orphanet:725 UMLS:CN181337" MONDO:0032742 "OMIM:618426" MONDO:0012292 "OMIM:609532 UMLS:C2750389" -MONDO:0011075 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene." "ICD10:H35.5 DOID:0110356 GARD:0010392 MESH:C563320 UMLS:C1832378 OMIM:601414" +MONDO:0011075 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene." "DOID:0110356 GARD:0010392 MESH:C563320 UMLS:C1832378 OMIM:601414" GO:0042697 "Cessation of menstruation, occurring in (e.g.) the human female usually around the age of 50." MONDO:0013490 "Orphanet:2478 UMLS:C3151355 DOID:0080318 OMIM:613925" GO:0007113 "A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell." -MONDO:0001209 "A wart caused by human papillomavirus. It can appear anywhere on the skin." "MESH:D014860 NCIT:C27087 SCTID:57019003 ICD9:078.1 ICD9:078.10 ICD9:078.19 ICD10:B07 ICD10:B07.8 DOID:11165 UMLS:C0043037" -MONDO:0010994 "UMLS:C1832800 MESH:C537556 SCTID:715479009 ICD10:Q77.8 Orphanet:2641 GARD:0003642 OMIM:601096" +MONDO:0001209 "A wart caused by human papillomavirus. It can appear anywhere on the skin." "MESH:D014860 NCIT:C27087 SCTID:57019003 ICD9:078.1 ICD9:078.10 ICD9:078.19 DOID:11165 UMLS:C0043037" +MONDO:0010994 "UMLS:C1832800 MESH:C537556 SCTID:715479009 Orphanet:2641 ICD10CM:Q77.8 GARD:0003642 OMIM:601096" NCBITaxon:32519 "GC_ID:1" -MONDO:0007409 "Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." "Orphanet:1547 MESH:C536219 ICD10:Q87.8 SCTID:725096002 UMLS:C1852454 GARD:0008174 OMIM:123560" +MONDO:0007409 "Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." "Orphanet:1547 ICD10CM:Q87.8 MESH:C536219 SCTID:725096002 UMLS:C1852454 GARD:0008174 OMIM:123560" GO:0051057 "Any process that activates or increases the frequency, rate or extent of small GTPase mediated signal transduction." MONDO:0001314 "An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints." "OMIM:118610 MESH:D002805 SCTID:239832006 ICD9:275.49 DOID:1156 OMIM:600668 HP:0000934 Orphanet:1416 OMIM:118600 NCIT:C34955 ICD9:712.1" MONDO:0100416 "Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)" "NCIT:C67495" @@ -3473,12 +3470,12 @@ MONDO:0003366 "Accumulation of watery fluid in the cavity of a joint. (Dorland, MONDO:0003335 "Polyneuropathy that is persistent or long-standing in nature." "NCIT:C36071 DOID:5221 UMLS:C1167650" MONDO:0045069 "A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma." "UMLS:C1334771 NCIT:C5957" MONDO:0054573 "OMIM:617435 UMLS:C4479491" -MONDO:0004627 "Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain." "ICD9:535.60 UMLS:C0013298 ICD9:535.6 NCIT:C94409 MESH:D004382 DOID:8643 SCTID:72007001 ICD10:K29.8" +MONDO:0004627 "Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain." "ICD9:535.60 UMLS:C0013298 ICD9:535.6 NCIT:C94409 MESH:D004382 DOID:8643 ICD10CM:K29.8 SCTID:72007001" http://identifiers.org/hgnc/17768 CHEBI:60004 "A mixture is a chemical substance composed of multiple molecules, at least two of which are of a different kind." NCBITaxon:1301 "PMID:19880633 PMID:8995803 PMID:14657115 PMID:1720654 PMID:19620365 PMID:10555340 GC_ID:11 PMID:7537076" UBERON:0008951 -MONDO:0011074 "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23." "MESH:C563321 OMIM:601412 UMLS:C1832379 DOID:0110591 ICD10:H90.3" +MONDO:0011074 "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23." "MESH:C563321 OMIM:601412 UMLS:C1832379 DOID:0110591" MONDO:0013491 "Orphanet:2478 OMIM:613926 UMLS:C3151356 DOID:0080317" MONDO:0008548 "OMIM:187650 UMLS:C1861211" GO:0007632 "The behavior of an organism in response to a visual stimulus." @@ -3490,9 +3487,9 @@ MONDO:0004463 "Primary myelofibrosis characterized by bone marrow hypercellulari CHR:9606-chr1q2 UBERON:0035471 CHEBI:48705 "Substance which binds to cell receptors normally responding to naturally occurring substances and which produces a response of its own." -MONDO:0000988 "Discharge or drainage of fluid from the ear." "ICD9:388.6 ICD10:H92.10 ICD9:388.60 ICD10:H92.1 DOID:10261 NCIT:C35199" +MONDO:0000988 "Discharge or drainage of fluid from the ear." "ICD9:388.6 ICD9:388.60 DOID:10261 NCIT:C35199" MONDO:0003025 "An angiosarcoma characterized by the presence of malignant spindle endothelial cells." "DOID:4512 NCIT:C9426 UMLS:C1333155" -MONDO:0009738 "A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations." "UMLS:C0023806 UMLS:CN206285 ICD10:E77.1 Orphanet:87876 DOID:3343 SCTID:81896006 OMIM:256150 OMIM:256550 SCTID:70528007 SCTID:52186006 Orphanet:812 UMLS:C3888317 MESH:C562606 NCIT:C125596 UMLS:C0268232 NCIT:C61267 UMLS:C0026697 GARD:0007183" +MONDO:0009738 "A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations." "UMLS:C0023806 UMLS:CN206285 Orphanet:87876 ICD10CM:E77.1 DOID:3343 SCTID:81896006 OMIM:256150 OMIM:256550 SCTID:70528007 SCTID:52186006 Orphanet:812 UMLS:C3888317 MESH:C562606 NCIT:C125596 UMLS:C0268232 NCIT:C61267 UMLS:C0026697 GARD:0007183" NCBITaxon:1300 "GC_ID:11" MONDO:0006303 "A rare squamous cell carcinoma that arises from the middle ear." "EFO:1000378 UMLS:C1334762 NCIT:C6086 DOID:5526" MONDO:0012294 "OMIM:609535 GARD:0012906 UMLS:C1836023" @@ -3506,26 +3503,26 @@ MONDO:0012142 "Any orofacial cleft in which the cause of the disease is a mutati MONDO:0010734 "OMIM:313000 UMLS:C1839262 MESH:C564058" CHEBI:25699 MONDO:0008173 "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene." "Orphanet:2309 OMIM:167200 SCTID:39427000" -MONDO:0015432 "Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported." "UMLS:C0795843 MESH:C538298 GARD:0001325 ICD10:Q93.2 Orphanet:1439" +MONDO:0015432 "Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported." "UMLS:C0795843 ICD10CM:Q93.2 MESH:C538298 GARD:0001325 Orphanet:1439" CL:0000215 "A cell whose primary function is to prevent the transport of stuff across compartments." -MONDO:0005411 "A malignant neoplasm involving the gall bladder" "UMLS:C0153452 EFO:0004606 ICD9:156.0 NCIT:C7481 GARD:0009328 ICD9:156.8 DOID:3121 ICD10:C23 NCIT:C3048 ONCOTREE:GBC SCTID:363353009 UMLS:C0016978" +MONDO:0005411 "A malignant neoplasm involving the gall bladder" "NCIT:C7481 ONCOTREE:GBC UMLS:C0016978 UMLS:C0153452 NCIT:C3048 DOID:3121 EFO:0004606 ICD9:156.0 GARD:0009328 SCTID:363353009 ICD9:156.8" MONDO:0043982 "Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" "MESH:D020430 EFO:1001363 SCTID:56177003" -MONDO:0010264 "A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism." "UMLS:C0342482 GARD:0000555 SCTID:93235007 DOID:0080156 OMIM:202155 ICD10:E27.1 NCIT:C123725 Orphanet:95702 OMIM:300200" +MONDO:0010264 "A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism." "UMLS:C0342482 GARD:0000555 SCTID:93235007 DOID:0080156 OMIM:202155 ICD10CM:E27.1 NCIT:C123725 Orphanet:95702 OMIM:300200" MONDO:0011931 "OMIM:607893" -MONDO:0007572 "Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." "ICD9:289.6 Orphanet:90042 ICD10:D75.0 GARD:0009843 SCTID:17342003 OMIM:133100 DOID:0060652" -MONDO:0001273 "An abnormal dilation of the colon not due to obstruction." "ICD9:564.7 SCTID:33995003 NCIT:C34810 DOID:11372 ICD10:K59.3 MESH:D008531" -MONDO:0007894 "Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner." "UMLS:C1835450 Orphanet:2900 OMIM:151200 ICD10:Q68.8 MESH:C537118 GARD:0000088" +MONDO:0007572 "Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." "ICD9:289.6 ICD10CM:D75.0 Orphanet:90042 GARD:0009843 SCTID:17342003 OMIM:133100 DOID:0060652" +MONDO:0001273 "An abnormal dilation of the colon not due to obstruction." "ICD9:564.7 SCTID:33995003 NCIT:C34810 DOID:11372 MESH:D008531" +MONDO:0007894 "Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner." "UMLS:C1835450 Orphanet:2900 OMIM:151200 ICD10CM:Q68.8 MESH:C537118 GARD:0000088" GO:0001932 "Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein." HP:0000421 "Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose." "EFO:0003895 ICD10:R04.0 ICD9:784.7 NCIT:C26766 SNOMEDCT_US:249366005 SNOMEDCT_US:12441001 COHD:318556 UMLS:C0014591 MSH:D004844" -MONDO:0000728 "The drooping of the upper eyelid." "UMLS:C0005745 NCIT:C27298 ICD10:H02.409 MESH:D001763 UMLS:C0033377 ICD9:374.30 ICD10:H02.40 DOID:0060260 ICD9:374.3 ICD10:H02.4 HP:0000508 SCTID:11934000" +MONDO:0000728 "The drooping of the upper eyelid." "UMLS:C0005745 NCIT:C27298 MESH:D001763 UMLS:C0033377 ICD9:374.30 DOID:0060260 ICD9:374.3 HP:0000508 SCTID:11934000" MONDO:0003828 "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly." "DOID:6256 NCIT:C5963 UMLS:C1334587" http://identifiers.org/hgnc/3444 -MONDO:0012041 "An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur." "MESH:C563924 NCIT:C96520 OMIM:608456 ICD10:D12.6 Orphanet:220460 Orphanet:247798 GARD:0010805 UMLS:C1837991" +MONDO:0012041 "An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur." "MESH:C563924 NCIT:C96520 OMIM:608456 Orphanet:220460 Orphanet:247798 GARD:0010805 UMLS:C1837991 ICD10CM:D12.6" ENVO:01001689 "An object which is composed primarily of a gas."@en GO:0045843 "Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle development." MONDO:0013493 "OMIM:613933 UMLS:C0268603 MESH:C562678" GO:0009636 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus." -MONDO:0004631 "A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas." "SCTID:363360003 GARD:0007779 ICD9:141.4 ICD10:C01 MESH:D014062 ICD10:C02.2 DOID:8649 NCIT:C9345 ICD9:141.3 ICD9:141.6 ICD9:141.5 ICD10:C02.9 ICD10:C02.0 ICD9:141.0 ICD10:C02.1 ICD9:141 ICD9:141.9 ICD9:141.2 ICD9:141.1 ICD10:C02.4" +MONDO:0004631 "A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas." "SCTID:363360003 GARD:0007779 ICD9:141.4 MESH:D014062 DOID:8649 NCIT:C9345 ICD9:141.3 ICD9:141.6 ICD9:141.5 ICD9:141.0 ICD9:141 ICD9:141.9 ICD9:141.2 ICD9:141.1" CL:1001591 "Glandular cell of oviduct epithelium. Example: peg cells, ciliated cells." "CALOHA:TS-1277" MONDO:0009743 "UMLS:C1850465 MESH:C564954 OMIM:256720" http://identifiers.org/hgnc/18969 @@ -3535,22 +3532,22 @@ CHR:9606-chr1q4 GO:0002776 "The regulated release of an antimicrobial peptide from a cell or a tissue. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa." MONDO:0026856 "OMIM:306995" CL:0008008 "A visceral muscle cell that is striated. Examples include the visceral muscle cells of arhtropods." -MONDO:0016996 "Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma." "SCTID:723496007 Orphanet:263665 UMLS:C4509932 ICD10:K63.8" +MONDO:0016996 "Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma." "SCTID:723496007 ICD10CM:K63.8 Orphanet:263665 UMLS:C4509932" MONDO:0006148 -MONDO:0015296 "Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported." "ICD10:Q28.8 UMLS:CN199246 Orphanet:137628" +MONDO:0015296 "Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported." "UMLS:CN199246 ICD10CM:Q28.8 Orphanet:137628" MONDO:0030341 "OMIM:619461" MONDO:0008545 "UMLS:C1861232 MESH:C566065 OMIM:187550" MONDO:0010510 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene." "OMIM:300984 UMLS:C4310816" GO:0042713 "The expulsion of seminal fluid, thick white fluid containing spermatozoa, from the male genital tract." UBERON:0006553 -MONDO:0019458 "A rare acute myeloid leukemia in which the immature cells differentiate towards basophils." "MESH:D015471 UMLS:C0221292 ICD10:C94.7 EFO:0003029 SCTID:307592006 ONCOTREE:ABL ICDO:9870/3 NCIT:C3164 Orphanet:86849 UMLS:C0023437" +MONDO:0019458 "A rare acute myeloid leukemia in which the immature cells differentiate towards basophils." "MESH:D015471 UMLS:C0221292 EFO:0003029 SCTID:307592006 ONCOTREE:ABL ICDO:9870/3 NCIT:C3164 Orphanet:86849 UMLS:C0023437" MONDO:0013494 MONDO:0023152 "Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy." "MESH:C537927 UMLS:C2931666 GARD:0009718" CHR:9606-chr10q22.3-q23.3 -MONDO:0002218 "A cancer that involves the temporal lobe." "ICD9:191.2 UMLS:C0153636 DOID:2135 UMLS:C1263887 ICD10:C71.2 NCIT:C5567 SCTID:363468009 SCTID:126955002" +MONDO:0002218 "A cancer that involves the temporal lobe." "ICD9:191.2 UMLS:C0153636 DOID:2135 UMLS:C1263887 NCIT:C5567 SCTID:363468009 ICD10CM:C71.2 SCTID:126955002" MONDO:0054577 "OMIM:617443" NCBITaxon:6201 "GC_ID:1" -MONDO:0015810 "Orphanet:178522 ICD10:C84.4" +MONDO:0015810 "Orphanet:178522 ICD10CM:C84.4" UBERON:0000459 http://identifiers.org/hgnc/12601 MONDO:0023250 "GARD:0008386" @@ -3559,53 +3556,52 @@ CHEBI:50906 "A role is particular behaviour which a material entity may exhibit. CL:0000748 "A bipolar neuron found in the retina and having connections with photoreceptors cells and neurons in the inner plexiform layer." CHR:9606-chr8q21.11 MONDO:0006249 "A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)." "NCIT:C4083 EFO:1000299 UMLS:C0333983" -MONDO:0020758 MONDO:0004032 "A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium." "NCIT:C40090 ONCOTREE:OSMCA EFO:1000358 DOID:6899 UMLS:C1518232" GO:0009611 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism." MONDO:0013590 "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene." "Orphanet:828 OMIM:614134 Orphanet:250984" -MONDO:0012734 "SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs." "GARD:0010302 NCIT:C123726 OMIM:611812 SCTID:723720008 UMLS:C2678492 ICD10:Q87.8 MESH:C567517 Orphanet:139466" +MONDO:0012734 "SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs." "GARD:0010302 NCIT:C123726 ICD10CM:Q87.8 OMIM:611812 SCTID:723720008 UMLS:C2678492 MESH:C567517 Orphanet:139466" NCBITaxon:6200 "GC_ID:1" MONDO:0016174 "Orphanet:208999" MONDO:0016545 "Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration." "UMLS:CN201627 GARD:0003232 Orphanet:2386" -MONDO:0016452 "Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening." "SCTID:442292004 Orphanet:228318 ICD10:G47.12 ICD9:327.12 ICD10:F51.1 UMLS:C1561855" +MONDO:0016452 "Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening." "ICD10CM:G47.12 SCTID:442292004 Orphanet:228318 ICD9:327.12 ICD10CM:F51.1 UMLS:C1561855" MONDO:0008210 "Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." "OMIM:169150 UMLS:C1868569 DOID:0060866 Orphanet:99001" MONDO:0020759 "OMIM:600131" -MONDO:0000050 "OMIM:262400 OMIM:262650 Orphanet:631 SCTID:2109003 ICD10:E23.0 OMIM:173100 MedDRA:10035083 OMIM:300123 GARD:0012556 DOID:0060870 OMIM:612781 OMIM:307200 OMIMPS:262400" +MONDO:0000050 "ICD10CM:E23.0 OMIM:262400 OMIM:262650 Orphanet:631 SCTID:2109003 OMIM:173100 MedDRA:10035083 OMIM:300123 GARD:0012556 DOID:0060870 OMIM:612781 OMIM:307200 OMIMPS:262400" MONDO:0001845 "A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm." "UMLS:C1519856 DOID:13957 NCIT:C40168 EFO:1000614" MONDO:0002934 "A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels." "DOID:4266 UMLS:C1334267 NCIT:C5355" MONDO:0006112 "A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." "ONCOTREE:IMTB NCIT:C6177 EFO:1000127 UMLS:C1336891" -MONDO:0018571 "ICD10:Q87.0 UMLS:CN237584 Orphanet:436003" +MONDO:0018571 "ICD10CM:Q87.0 UMLS:CN237584 Orphanet:436003" MONDO:0008070 "An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles." "MESH:C580202 DOID:0110927 Orphanet:607 UMLS:CN187050 NCIT:C129870 OMIM:161800 SCTID:702349003 Orphanet:98904" MONDO:0006521 "Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids)." "NCIT:C35277 EFO:1000662 UMLS:C0234894 DOID:4399" -MONDO:0018373 "Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure." "ICD10:M87.0 ICD10:M87.1 SCTID:397758007 ICD10:M87.9 Orphanet:399164 ICD10:M87.2 ICD10:M87.8 ICD10:M87.3 NCIT:C34841" -MONDO:0018175 "Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." "OMIM:613625 OMIM:227300 UMLS:C1856883 Orphanet:35909 SCTID:715559004 ICD10:D68.8 OMIM:227310" +MONDO:0018373 "Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure." "ICD10CM:M87.2 SCTID:397758007 ICD10CM:M87.3 ICD10CM:M87.8 ICD10CM:M87.9 Orphanet:399164 ICD10CM:M87.0 NCIT:C34841 ICD10CM:M87.1" +MONDO:0018175 "Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms." "OMIM:613625 OMIM:227300 UMLS:C1856883 Orphanet:35909 ICD10CM:D68.8 SCTID:715559004 OMIM:227310" UBERON:0000456 MONDO:0017370 "UMLS:CN203043 Orphanet:290842" MONDO:0000407 "A malignant form of pleural solitary fibrous tumor." "DOID:0050695" MONDO:0016173 "Orphanet:208989" -MONDO:0012727 "Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood." "MESH:D009080 ICD9:446.1 UMLS:C0026691 ICD10:M30.3 OMIM:611775 GARD:0006816 NCIT:C34825 MedDRA:10023320 EFO:0004246 SCTID:75053002 Orphanet:2331 DOID:13378" -MONDO:0013175 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene." "DOID:0110396 MESH:C567712 ICD10:H35.5 OMIM:613194" +MONDO:0012727 "Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood." "SCTID:75053002 NCIT:C34825 MedDRA:10023320 EFO:0004246 OMIM:611775 GARD:0006816 Orphanet:2331 DOID:13378 ICD9:446.1 UMLS:C0026691 MESH:D009080" +MONDO:0013175 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene." "DOID:0110396 MESH:C567712 OMIM:613194" MONDO:0043008 "An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome." "Orphanet:330206" GO:1990580 "Any process that modulates the frequency, rate or extent of cytoplasmic translational termination." http://identifiers.org/hgnc/21253 UBERON:0004151 HP:0002140 "Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured." "UMLS:C0948008 SNOMEDCT_US:422504002" MONDO:0021221 "A neoplasm (disease) that involves the vestibulocochlear nerve." "SCTID:387891008 NCIT:C5120 UMLS:C0346330" -MONDO:0002442 "A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome." "MESH:D008133 Orphanet:768 UMLS:C0035828 DOID:2843 ICD10:I45.81 NCIT:C34786 ICD9:426.82 SCTID:20852007 NCIT:C85049 Orphanet:101016 UMLS:C0023976" -MONDO:0013177 "Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency." "OMIM:613204 ICD10:G71.2 MESH:C567709 GARD:0012587 Orphanet:34520 DOID:0110639 UMLS:C2750786" +MONDO:0002442 "A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome." "MESH:D008133 Orphanet:768 ICD10CM:I45.81 UMLS:C0035828 DOID:2843 NCIT:C34786 ICD9:426.82 SCTID:20852007 NCIT:C85049 Orphanet:101016 UMLS:C0023976" +MONDO:0013177 "Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency." "OMIM:613204 MESH:C567709 GARD:0012587 ICD10CM:G71.2 Orphanet:34520 DOID:0110639 UMLS:C2750786" CHR:9606-chr2q32-q33 FOODON:03400685 "Tree nuts are the seeds of a variety of trees and shrubs which are characterized by a hard inedible shell enclosing an oily seed.\nThe seed is protected from pesticides applied during the growing season by the shell and other parts of the fruit.\nThe edible portion of the nut is consumed in succulent, dried or processed forms."@en "http://www.langual.org/langual_thesaurus.asp?termid=A0685" GO:0100036 "OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates purine nucleotide biosynthetic process." UBERON:0000457 GO:1902742 "Any apoptotic process that is involved in anatomical structure development." MONDO:0009747 "OMIM:256810 MESH:C538344 Orphanet:255229 DOID:0080125 GARD:0003972" -MONDO:0008087 "Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." "Orphanet:640 DOID:0060843 MedDRA:10069382 OMIM:162500 MESH:C536965 SCTID:230558006 ICD10:G60.0 GARD:0005221" +MONDO:0008087 "Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." "Orphanet:640 DOID:0060843 MedDRA:10069382 ICD10CM:G60.0 OMIM:162500 MESH:C536965 SCTID:230558006 GARD:0005221" http://identifiers.org/hgnc/559 UBERON:0000458 MONDO:0002205 "A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria." "HP:0030418 DOID:2093 SCTID:254896002 NCIT:C40329 UMLS:C0241989" UBERON:0010042 MONDO:0000341 "A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis." "DOID:0050515" -MONDO:0004661 "A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion." "ICD10:D02.1 NCIT:C3639 UMLS:C0154070 ICD9:231.1 SCTID:92772005 DOID:8802" +MONDO:0004661 "A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion." "ICD10CM:D02.1 NCIT:C3639 UMLS:C0154070 ICD9:231.1 SCTID:92772005 DOID:8802" MONDO:0008549 "OMIM:187750 MESH:C566063 UMLS:C1861204" IAO:0000005 "a directive information entity that describes an intended process endpoint. When part of a plan specification the concretization is realized in a planned process in which the bearer tries to effect the world so that the process endpoint is achieved."@en MONDO:0023023 "Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection." "UMLS:C0270178 NCIT:C116819 SCTID:23735003" @@ -3621,8 +3617,8 @@ CL:0000838 "A progenitor cell restricted to the lymphoid lineage." "CALOHA:TS-20 UBERON:0000454 MONDO:0021172 "Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death." "UMLS:C4304347 SCTID:719907006" http://identifiers.org/hgnc/12605 -MONDO:0016171 "Orphanet:208981 ICD10:G61.8" -MONDO:0005275 "A disease involving the lung." "DOID:850 ICD9:518.89 MESH:D008171 ICD10:J98.4 SCTID:19829001 NCIT:C3198 EFO:0003818" +MONDO:0016171 "Orphanet:208981 ICD10CM:G61.8" +MONDO:0005275 "A disease involving the lung." "ICD10CM:J60-J70 DOID:850 ICD9:518.89 MESH:D008171 SCTID:19829001 NCIT:C3198 EFO:0003818" UBERON:0001651 NCBITaxon:4069 "GC_ID:1" MONDO:0020754 "OMIM:155310" @@ -3651,13 +3647,13 @@ MONDO:0022055 "MESH:C537960 UMLS:C0796276 GARD:0008584" GO:1905154 "Any process that stops, prevents or reduces the frequency, rate or extent of membrane invagination." MONDO:0006059 "A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass." "EFO:1000057 NCIT:C8192 DOID:5515 UMLS:C0280333" ENVO:01000952 "A process during which a natural environmental system is altered by human action." -MONDO:0013515 "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene." "Orphanet:216820 ICD10:Q78.0 UMLS:C3279564 DOID:0110350 Orphanet:216812 OMIM:613982 MESH:C536047 GARD:0008700" +MONDO:0013515 "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene." "Orphanet:216820 UMLS:C3279564 DOID:0110350 ICD10CM:Q78.0 Orphanet:216812 OMIM:613982 MESH:C536047 GARD:0008700" http://identifiers.org/hgnc/30740 MONDO:0021957 "GARD:0009492 OMIM:609376 MESH:C537298 UMLS:C2931470" NCBITaxon:29120 "GC_ID:1" -MONDO:0000700 "A migraine disorder characterized by individual and family history of aura that includes motor weakness." "ICD10:G43.8 OMIM:609634 OMIM:602481 Orphanet:569 NCIT:C117009 OMIM:607516 GARD:0010975 ICD9:346.8 SCTID:95656000 OMIM:300125 DOID:0060178 OMIM:141500 OMIMPS:141500" +MONDO:0000700 "A migraine disorder characterized by individual and family history of aura that includes motor weakness." "OMIM:609634 OMIM:602481 Orphanet:569 NCIT:C117009 OMIM:607516 GARD:0010975 ICD9:346.8 SCTID:95656000 OMIM:300125 DOID:0060178 OMIM:141500 OMIMPS:141500" GO:1990748 "Any process carried out at the cellular level that reduces or removes the toxicity of a toxic substance. These may include transport of the toxic substance away from sensitive areas and to compartments or complexes whose purpose is sequestration of the toxic substance." -MONDO:0022756 "Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "ICD10:Q93.5 GARD:0008669 UMLS:CN072190 Orphanet:262001" +MONDO:0022756 "Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "ICD10CM:Q93.5 GARD:0008669 UMLS:CN072190 Orphanet:262001" http://identifiers.org/hgnc/1041 UBERON:0001653 MONDO:0010991 "GARD:0003198 OMIM:601086 Orphanet:450 UMLS:C1832813 MESH:C563391" @@ -3681,12 +3677,12 @@ MONDO:0024429 "A disorienting neuropsychological condition that affects percepti GO:0048864 "The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate." MONDO:0010990 "OMIM:601083" http://identifiers.org/hgnc/1040 -MONDO:0000088 "Unusually early sexual maturity." "SCTID:400179000 Orphanet:95708 HP:0000826 UMLS:C0034013 MedDRA:10058084 MedDRA:10044701 ICD9:259.1 OMIM:176400 NCIT:C79704 MESH:D011629 GARD:0007446 ICD10:E22.8 ICD10:E30.1" +MONDO:0000088 "Unusually early sexual maturity." "SCTID:400179000 Orphanet:95708 HP:0000826 UMLS:C0034013 MedDRA:10058084 MedDRA:10044701 ICD9:259.1 OMIM:176400 NCIT:C79704 MESH:D011629 GARD:0007446 ICD10CM:E30.1" MONDO:0044724 "OMIM:617698 DOID:0070002 UMLS:CN510468 Orphanet:505216" UBERON:0010046 GO:0045835 "Any process that stops, prevents, or reduces the frequency, rate or extent of meiosis." UBERON:0001652 -MONDO:0014689 "OMIM:616549 Orphanet:447974 ICD10:Q76.1 DOID:0080592 UMLS:C4225285" +MONDO:0014689 "OMIM:616549 Orphanet:447974 DOID:0080592 ICD10CM:Q76.1 UMLS:C4225285" MONDO:0012028 "OMIM:608392" MONDO:0018578 MONDO:0004821 "A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma." "NCIT:C35723 DOID:9561 UMLS:C0027438 SCTID:123952009 MESH:D009302" @@ -3700,14 +3696,14 @@ MONDO:0001441 "An eating disorder characterized by the persistent eating of nonn HP:0004337 "Abnormality of an amino acid metabolic process." "UMLS:C1328440" CL:0002139 "An endothelial cell of the vascular tree, which includes blood vessels and lymphatic vessels." "FMA:67755 CALOHA:TS-1106 BTO:0001854" MONDO:0000047 -MONDO:0017114 "Orphanet:269224 ICD10:Q04.3" +MONDO:0017114 "Orphanet:269224 ICD10CM:Q04.3" MONDO:0004521 "An epithelioid sarcoma occurring in adults." "NCIT:C7944 DOID:8282 UMLS:C0279545" -MONDO:0018570 "Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia)." "SCTID:30174008 ICD10:E83.39 MedDRA:10049933 OMIM:241500 UMLS:C0020630 UMLS:C0220743 ICD10:E83.3 GARD:0006734 DOID:14213 Orphanet:436 OMIM:241510 MESH:D007014 SCTID:360792001 NCIT:C26798 MESH:C562440 ICD9:277.6 OMIM:146300" +MONDO:0018570 "Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia)." "SCTID:30174008 MedDRA:10049933 OMIM:241500 UMLS:C0020630 UMLS:C0220743 GARD:0006734 DOID:14213 Orphanet:436 OMIM:241510 MESH:D007014 SCTID:360792001 NCIT:C26798 MESH:C562440 ICD9:277.6 ICD10CM:E83.3 OMIM:146300" ECTO:9001751 "An exposure to antiprotozoal drug." UBERON:0010047 CHR:9606-chr10q24 GO:0014070 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus." -MONDO:0001522 "A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting." "MESH:D005391 NCIT:C94334 ICD10:F63.1 ICD9:312.33 SCTID:600009 DOID:12402" +MONDO:0001522 "A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting." "MESH:D005391 NCIT:C94334 ICD9:312.33 ICD10CM:F63.1 SCTID:600009 DOID:12402" MONDO:0020762 "OMIM:618646" MONDO:0012027 "OMIM:608391" MONDO:0004942 "A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma." "SCTID:13048006 UMLS:C0271333 MESH:C537131 GARD:0009719 DOID:9986 NCIT:C6244" @@ -3716,12 +3712,12 @@ MONDO:0018579 "UMLS:CN237600 Orphanet:438072" MONDO:0018313 MONDO:0015818 "Orphanet:178554" UBERON:0018544 -MONDO:0016523 "Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum." "MESH:D001994 GARD:0001025 HP:0100730 ICD10:J98.4 Orphanet:2357 MedDRA:10064585" +MONDO:0016523 "Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum." "MESH:D001994 GARD:0001025 HP:0100730 ICD10CM:J98.4 Orphanet:2357 MedDRA:10064585" GO:0009201 "The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar." MONDO:0024553 "Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene." "OMIM:600462 Orphanet:2598 UMLS:C1838103 DOID:0111185" MONDO:0000046 -MONDO:0017682 "Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported." "MESH:C537615 GARD:0003141 UMLS:C2931547 Orphanet:3082 ICD10:Q87.2" -MONDO:0008004 "An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome." "OMIM:157700 OMIM:610840 OMIM:607829 OMIMPS:157700 ICD10:I34.1 GARD:0003687 Orphanet:741 SCTID:233858000" +MONDO:0017682 "Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported." "ICD10CM:Q87.2 MESH:C537615 GARD:0003141 UMLS:C2931547 Orphanet:3082" +MONDO:0008004 "An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome." "ICD10CM:I34.1 OMIM:157700 OMIM:610840 OMIM:607829 OMIMPS:157700 GARD:0003687 Orphanet:741 SCTID:233858000" NCBITaxon:6209 "PMID:18180956 PMID:16352465 PMID:12377596 PMID:18338180 PMID:12964823 PMID:17156584 GC_ID:1" MONDO:0017115 MONDO:0006374 "Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." "UMLS:C0855173 EFO:1000479 SCTID:448401007 NCIT:C8893 DOID:2024" @@ -3735,49 +3731,50 @@ UBERON:0035216 MONDO:0020763 "OMIM:618332" MONDO:0015542 "Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia." "UMLS:CN199700 UMLS:C0019068 NCIT:C121184 Orphanet:158041 UMLS:C4054044" MONDO:0001661 "An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels." "UMLS:C0004606 ICD9:362.01 DOID:13208 NCIT:C34408 NCIT:C35668 ICD9:362.03 SCTID:390834004" -MONDO:0018576 "ICD10:G93.4 Orphanet:436271" +MONDO:0018576 "ICD10CM:G93.4 Orphanet:436271" GO:0031330 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells." HsapDv:0000102 "Child stage that refers to a child who is over 8 and under 9 years old." GO:0016810 "Catalysis of the hydrolysis of any carbon-nitrogen bond, C-N, with the exception of peptide bonds." MONDO:0015817 "Orphanet:178551" -MONDO:0003059 "A malignant neoplasm involving the bile duct" "UMLS:C0005396 NCIT:C2898 ICD10:C24.0 ICD9:156.1 DOID:4606" -MONDO:0010122 "Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." "OMIM:274150 SCTID:373420004 NCIT:C131657 Orphanet:93583 ICD10:M31.3 GARD:0009430 Orphanet:54057 ICD9:287.33" +MONDO:0003059 "A malignant neoplasm involving the bile duct" "UMLS:C0005396 NCIT:C2898 ICD9:156.1 DOID:4606" +MONDO:0010122 "Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." "OMIM:274150 ICD10CM:M31.3 SCTID:373420004 NCIT:C131657 Orphanet:93583 GARD:0009430 Orphanet:54057 ICD9:287.33" MONDO:0000045 "OMIMPS:275200" NCBITaxon:6208 "GC_ID:1" -MONDO:0008753 "Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." "OMIM:203500 UMLS:C2931645 UMLS:C0002066 DOID:9270 GARD:0005775 SCTID:360378009 NCIT:C84546 ICD9:270.2 ICD10:E70.29 MESH:D000474 Orphanet:56 ICD10:E70.2 MedDRA:10001689" -MONDO:0017378 "ICD10:Q87.8 Orphanet:2925 UMLS:CN227120" +MONDO:0008753 "Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy)." "OMIM:203500 UMLS:C2931645 UMLS:C0002066 DOID:9270 GARD:0005775 SCTID:360378009 NCIT:C84546 ICD10CM:E70.2 ICD9:270.2 MESH:D000474 Orphanet:56 MedDRA:10001689" +MONDO:0017378 "ICD10CM:Q87.8 Orphanet:2925 UMLS:CN227120" MONDO:0004164 "A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates." "UMLS:C1515864 NCIT:C39885 DOID:7246" HP:0004408 "An anomaly in the ability to perceive and distinguish scents (odors)." "UMLS:C4021655" MONDO:0020764 "UMLS:C0007122 MESH:D002284 EFO:1001278" -MONDO:0018577 "ICD10:Q82.8 UMLS:CN237597 Orphanet:436274" -MONDO:0012630 "An Alzheimer's disease that is characterized by an associated with variation in the region 1q21." "DOID:0110046 MESH:C567000 Orphanet:1020 ICD10:G30 OMIM:611152 UMLS:C1970147" +MONDO:0018577 "ICD10CM:Q82.8 UMLS:CN237597 Orphanet:436274" +MONDO:0012630 "An Alzheimer's disease that is characterized by an associated with variation in the region 1q21." "DOID:0110046 MESH:C567000 Orphanet:1020 ICD10CM:G30 OMIM:611152 UMLS:C1970147" +MONDO:0030502 "A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number." "MESH:D058670 EFO:1001297 NCIT:C36601" MONDO:0015816 "Orphanet:178548" CL:0000549 "A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers." "FMA:83505" -MONDO:0019372 "A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported." "SCTID:203467005 ICD9:733.21 NCIT:C2904 Orphanet:83468 MESH:D001845 ICD10:M85.4" +MONDO:0019372 "A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported." "SCTID:203467005 ICD9:733.21 NCIT:C2904 Orphanet:83468 MESH:D001845 ICD10CM:M85.4" MONDO:0005425 "A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils." "DOID:0050138 SCTID:47595008 EFO:0004712 ICD9:457.1" CHEBI:35297 "A polycyclic aromatic hydrocarbon consisting of fused benzene rings in a rectilinear arrangement." MONDO:0019510 UBERON:0011249 -MONDO:0018152 "Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications." "SCTID:312491004 ICD9:363.8 UMLS:C0729842 Orphanet:35686 GARD:0000031 ICD10:H30.8" +MONDO:0018152 "Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications." "SCTID:312491004 ICD9:363.8 UMLS:C0729842 Orphanet:35686 GARD:0000031 ICD10CM:H30.8" MONDO:0043878 "A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve." "OMIM:610708 OMIM:165300 OMIMPS:165500 OMIM:311050 NCIT:C34864 SCTID:26360005 OMIM:605293 OMIM:258500 UMLS:C0029125 OMIM:165500 MESH:D015418" -MONDO:0013228 "Orphanet:228387 ICD10:Q77.7 OMIM:613330 UMLS:C2750066 MESH:C567639" +MONDO:0013228 "ICD10CM:Q77.7 Orphanet:228387 OMIM:613330 UMLS:C2750066 MESH:C567639" MONDO:0015815 -MONDO:0015999 "A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." "DOID:0060280 UMLS:C4304832 UMLS:C1864851 OMIM:614190 OMIM:615830 OMIM:610475 SCTID:719274008 ICD10:E24.8 Orphanet:189439 OMIMPS:610489 NCIT:C131196 GARD:0010906 OMIM:610489 MESH:C566472 MESH:C566469 UMLS:CN200645" -MONDO:0019505 "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia." "OMIM:616494 UMLS:CN206304 OMIM:607694 ICD10:G11.1 Orphanet:88637 OMIM:614381" +MONDO:0015999 "A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." "ICD10CM:E24.8 SCTID:719274008 UMLS:C1864851 Orphanet:189439 UMLS:C4304832 OMIM:610475 OMIM:614190 GARD:0010906 OMIM:615830 UMLS:CN200645 OMIMPS:610489 OMIM:610489 NCIT:C131196 MESH:C566472 DOID:0060280 MESH:C566469" +MONDO:0019505 "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia." "OMIM:616494 ICD10CM:G11.1 UMLS:CN206304 OMIM:607694 Orphanet:88637 OMIM:614381" HP:0004326 "Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease." "MSH:D002100 UMLS:C0006625 SNOMEDCT_US:238108007 SNOMEDCT_US:285384003" CL:0002068 "Specialized cardiac myocyte that is subendocardially interspersed with the regular cardiac muscle cell. They are uninucleate cylindrical cells, associated end-to-end in long rows, continue from the node to the atrioventricular bundle; relatively short compared to ordinary myocytes but are nearly twice their diameter." "FMA:14146 BTO:0001032" PATO:0001300 "An EM radiation quality in which the EM radiation is within the fiat range of the spectrum visible deemed to be light." -MONDO:0008829 "Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain." "ICD9:457.8 Orphanet:1160 GARD:0001359 ICD10:I89.8 OMIM:208300 UMLS:C0008732 MESH:D002915 SCTID:52985009 MedDRA:10003446 NCIT:C34482" -MONDO:0018574 "ICD10:Q87.0 UMLS:CN237587 OMIM:616083 Orphanet:436151 OMIM:616078" +MONDO:0008829 "Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain." "ICD9:457.8 Orphanet:1160 GARD:0001359 OMIM:208300 ICD10CM:I89.8 UMLS:C0008732 MESH:D002915 SCTID:52985009 MedDRA:10003446 NCIT:C34482" +MONDO:0018574 "ICD10CM:Q87.0 UMLS:CN237587 OMIM:616083 Orphanet:436151 OMIM:616078" CL:0002658 "A glandular epithelial cell of the large intestine." "FMA:87194" GO:0035441 "The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form de novo blood vessels and tubes." MONDO:0016179 "Orphanet:209013" GO:0060590 "Binds to and modulates the activity of an ATP hydrolysis activity." MONDO:0014478 "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene." "Orphanet:238722 UMLS:C4015124 OMIM:616059" MONDO:0005122 "A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as \"bacterial soft rot\" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems)." "Wikipedia:Pectobacterium_carotovorum EFO:0000781" -MONDO:0001241 "UMLS:C0158997 ICD10:P61.5 SCTID:55444004 ICD9:776.7 DOID:11245" -MONDO:0017110 "Orphanet:269212 ICD10:Q03.1" -MONDO:0016657 "8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." "ICD10:Q93.5 Orphanet:251066 UMLS:CN201887 SCTID:719646006 UMLS:C4304505" +MONDO:0001241 "UMLS:C0158997 SCTID:55444004 ICD10CM:P61.5 ICD9:776.7 DOID:11245" +MONDO:0017110 "Orphanet:269212 ICD10CM:Q03.1" +MONDO:0016657 "8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism." "Orphanet:251066 ICD10CM:Q93.5 UMLS:CN201887 SCTID:719646006 UMLS:C4304505" http://identifiers.org/hgnc/10468 MONDO:0021962 "MESH:C537795 GARD:0009216 UMLS:C2931615" ECTO:9001021 @@ -3785,16 +3782,16 @@ MONDO:0021908 "Aplasia cutis congenita with with autosomal dominant inheritance MONDO:0000043 http://identifiers.org/hgnc/33235 GO:0004887 -MONDO:0018575 "Orphanet:436182 OMIM:616541 UMLS:CN237592 OMIM:617253 ICD10:Q87.1" +MONDO:0018575 "Orphanet:436182 OMIM:616541 UMLS:CN237592 OMIM:617253 ICD10CM:Q87.1" MONDO:0022060 "UMLS:C2931677 MESH:C537962 GARD:0001055" MONDO:0020027 "OBSOLETE. Rare allergic hypersensitivity disease." "UMLS:CN206951 Orphanet:98050" MONDO:0100027 MONDO:0016178 "Orphanet:209010" MONDO:0019770 "UMLS:CN227687 Orphanet:93951" CL:0002673 "A skeletal muscle cell that is part of the tongue." -MONDO:0009266 "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." "DOID:0110958 ICD10:E75.2 Orphanet:355 GARD:0002442 SCTID:12246008 Orphanet:77260 OMIM:230900" +MONDO:0009266 "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." "DOID:0110958 Orphanet:355 GARD:0002442 SCTID:12246008 Orphanet:77260 OMIM:230900 ICD10CM:E75.2" NCBITaxon:92088 "GC_ID:1" -MONDO:0017111 "Orphanet:269215 ICD10:Q03.1" +MONDO:0017111 "Orphanet:269215 ICD10CM:Q03.1" MONDO:0004428 "A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative." "DOID:8003 NCIT:C4140 UMLS:C0334303 ICDO:8251/0" MONDO:0006215 "A carcinoma that arises from glandular epithelial cells of the gall bladder." "UMLS:C0279651 DOID:3500 EFO:1000262 NCIT:C9166" HP:0030016 "Recurrent or persistent genital pain associated with sexual intercourse." "MSH:D004414 UMLS:C1384606 SNOMEDCT_US:71315007" @@ -3804,8 +3801,8 @@ MONDO:0000042 HP:0001387 "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." "SNOMEDCT_US:84445001 UMLS:C0162298" MONDO:0013397 "Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene." "OMIM:613736 UMLS:C3151037" MONDO:0044765 "Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids." "GTR:AN0200342 SCTID:236381000 GTR:AN0096391 GTR:AN0255485 GTR:AN0096395 NCIT:C122798 UMLS:CN034406" -MONDO:0018572 "UMLS:CN237585 ICD10:Q87.8 Orphanet:436141" -MONDO:0006294 "A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." "DOID:5158 SCTID:363433009 NCIT:C3547 EFO:1000362 ICD10:C38.4 UMLS:C0032229 ICD9:163 UMLS:C0153494 NCIT:C3332 ICD9:163.8 ICD9:163.9 SCTID:126719004" +MONDO:0018572 "UMLS:CN237585 ICD10CM:Q87.8 Orphanet:436141" +MONDO:0006294 "A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site." "ICD9:163.8 EFO:1000362 DOID:5158 SCTID:126719004 NCIT:C3547 ICD9:163.9 NCIT:C3332 SCTID:363433009 UMLS:C0032229 UMLS:C0153494 ICD9:163 ICD10CM:C38.4" CL:0002159 "Epithelial cells derived from general body ectoderm and ectoderm placodes." "FMA:70556" MONDO:0009097 "Autosomal recessive form of persistent hyperplastic primary vitreous." "OMIM:221900 UMLS:C1969783 Orphanet:300337 Orphanet:91495" MONDO:0003704 "An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus." "DOID:5916 UMLS:C1519855 NCIT:C40170 DOID:5917" @@ -3813,21 +3810,21 @@ HP:0001600 "An abnormality of the larynx." "UMLS:C4021777" UBERON:0018543 MONDO:0016177 "Orphanet:209007 UMLS:CN200929" MONDO:0017374 -MONDO:0016612 "X-linked form of cerebellar ataxia." "Orphanet:247765 DOID:0050953 ICD10:G11.1" +MONDO:0016612 "X-linked form of cerebellar ataxia." "Orphanet:247765 DOID:0050953 ICD10CM:G11.1" MONDO:0000041 MONDO:0021115 "A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype." "NCIT:C53555 UMLS:C3642346" -MONDO:0018573 "UMLS:CN237586 Orphanet:436144 ICD10:Q87.1" -MONDO:0001528 "A primary or metastatic malignant neoplasm involving the vulva." "ICD9:184.4 NCIT:C7502 SCTID:363367000 ICD10:C51.9 ICD10:C51 SCTID:126922007 DOID:1245 MESH:D014846 GARD:0009349" +MONDO:0018573 "UMLS:CN237586 Orphanet:436144 ICD10CM:Q87.1" +MONDO:0001528 "A primary or metastatic malignant neoplasm involving the vulva." "SCTID:363367000 MESH:D014846 GARD:0009349 DOID:1245 SCTID:126922007 ICD9:184.4 NCIT:C7502" MONDO:0006258 "A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." "EFO:1000310 NCIT:C3826 UMLS:C0221273" -MONDO:0012085 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene." "UMLS:C1837618 DOID:0110599 MESH:C535278 ICD10:Q34.8 OMIM:608644" -MONDO:0016176 "Orphanet:209004 ICD10:G61.8" +MONDO:0012085 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene." "UMLS:C1837618 DOID:0110599 MESH:C535278 OMIM:608644" +MONDO:0016176 "Orphanet:209004 ICD10CM:G61.8" ECTO:8000000 "A exposure event involving the interaction of an exposure receptor to environmental system process." -MONDO:0001943 "Malaria resulting from infection by Plasmodium malariae." "DOID:14324 ICD9:084.2 NCIT:C34799 SCTID:27618009 ICD10:B52.9 UMLS:C0024536 ICD10:B52" +MONDO:0001943 "Malaria resulting from infection by Plasmodium malariae." "DOID:14324 ICD9:084.2 NCIT:C34799 SCTID:27618009 ICD10CM:B52 UMLS:C0024536" GO:0009112 "The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine." HP:0006561 "UMLS:C1837257" ENVO:01000875 "A precipitation process is a process in which a portion of some substance segregates from a material in which that substance or its precursors were dissolved or suspended in and settles due to a force such as gravity or centrifugal force." MONDO:0002559 "A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck." "UMLS:C1370659 ICD9:215.9 DOID:3206 NCIT:C6969 SCTID:404025004" -MONDO:0013316 "Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms." "ICD10:H35.5 DOID:0050578 UMLS:C3150833 Orphanet:247834 OMIM:613587" +MONDO:0013316 "Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms." "DOID:0050578 UMLS:C3150833 Orphanet:247834 ICD10CM:H35.5 OMIM:613587" MONDO:0006753 "A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" "MESH:D020814 ICD9:320.7 ICD9:320.82 UMLS:C0338395 EFO:1000929 SCTID:192655005" MONDO:0000040 MONDO:0010724 @@ -3835,29 +3832,29 @@ MONDO:0014425 "OBSOLETE. Hereditary persistence of alpha-fetoprotein is a benign HsapDv:0000140 "Middle aged stage that refers to an adult who is over 46 and under 47." MONDO:0011921 "MESH:C564321 OMIM:607842 UMLS:C1842937 Orphanet:141074" MONDO:0032738 "OMIM:618419" -MONDO:0011922 "ICD10:D70 Orphanet:2688 OMIM:607847 MESH:C564320 UMLS:C1842930" +MONDO:0011922 "ICD10CM:D70 Orphanet:2688 OMIM:607847 MESH:C564320 UMLS:C1842930" MONDO:0012285 "Orphanet:54260 OMIM:609470 UMLS:C1836118" -MONDO:0017568 "Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984." "Orphanet:2956 ICD10:Q87.8 UMLS:C2931761 UMLS:CN203304 GARD:0000491" +MONDO:0017568 "Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984." "Orphanet:2956 UMLS:C2931761 ICD10CM:Q87.8 UMLS:CN203304 GARD:0000491" UBERON:0009042 -MONDO:0017985 "Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living." "MESH:C562408 Orphanet:3269 ICD10:Q74.0 SCTID:33313004 ICD9:755.53 HP:0002974 GARD:0010876 OMIM:179300 DOID:9827 GARD:0004630" -MONDO:0020562 "Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma." "SCTID:404071006 Orphanet:99969 UMLS:C0205825 ICDO:8854/3 MESH:D008080 NCIT:C3705 EFO:0003083 ICD9:171.9 ICD10:C49.9 ONCOTREE:PLLS DOID:5702" +MONDO:0017985 "Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living." "GARD:0004630 MESH:C562408 Orphanet:3269 SCTID:33313004 ICD9:755.53 HP:0002974 ICD10CM:Q74.0 GARD:0010876 OMIM:179300 DOID:9827" +MONDO:0020562 "Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma." "SCTID:404071006 Orphanet:99969 UMLS:C0205825 ICDO:8854/3 MESH:D008080 NCIT:C3705 EFO:0003083 ICD9:171.9 ONCOTREE:PLLS ICD10CM:C49.9 DOID:5702" MONDO:0024532 "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene." "Orphanet:2792 UMLS:CN034490 OMIM:166780 UMLS:C3714941" OBI:0000112 "a role borne by a material entity that is gained during a specimen collection process and that can be realized by use of the specimen in an investigation"@en -MONDO:0010825 "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects." "OMIM:600123 ICD10:Q87.8 MESH:C563994 UMLS:C1838606 Orphanet:1352" +MONDO:0010825 "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects." "OMIM:600123 MESH:C563994 ICD10CM:Q87.8 UMLS:C1838606 Orphanet:1352" MONDO:0013483 "OMIM:613886 MESH:C563938 UMLS:C3151303" MONDO:0012786 "Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." "Orphanet:247794 DOID:0070353 MESH:C567434 SCTID:722457005 OMIM:612018 UMLS:C2677587" MONDO:0013736 "Any autosomal dominant centronuclear myopathy in which the cause of the disease is a mutation in the MYF6 gene." "UMLS:C3280703 OMIM:614408 Orphanet:169189" -MONDO:0020726 "An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function." "UMLS:CN206321 GARD:0007002 OMIM:174000 Orphanet:88949 Orphanet:34149 ICD10:Q61.5 NCIT:C123171 UMLS:C1868139" +MONDO:0020726 "An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function." "ICD10CM:Q61.5 UMLS:CN206321 GARD:0007002 OMIM:174000 Orphanet:88949 Orphanet:34149 NCIT:C123171 UMLS:C1868139" UBERON:0022287 -MONDO:0007863 "Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances." "MESH:D017593 EFO:1001354 OMIM:148840 Orphanet:33543 GARD:0003117 UMLS:C0206085 MedDRA:10053712 DOID:0060165 NCIT:C84800 SCTID:111488004 ICD10:G47.8" +MONDO:0007863 "Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances." "MESH:D017593 EFO:1001354 OMIM:148840 Orphanet:33543 GARD:0003117 UMLS:C0206085 MedDRA:10053712 DOID:0060165 NCIT:C84800 SCTID:111488004 ICD10CM:G47.8" MONDO:0018078 "A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones." "EFO:1001968 NCIT:C9306 UMLS:CN204398 Orphanet:3394 SCTID:424952003 GARD:0004898" MONDO:0032737 "OMIM:618418" -MONDO:0017778 "A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." "OMIM:613943 OMIM:604777 ICD10:Q80.2 OMIM:242300 MedDRA:10023686 Orphanet:313 OMIM:601277 GARD:0010803 NCIT:C84805 OMIM:612281 MESH:D017490 OMIM:146750 OMIM:606545" -MONDO:0007376 "Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." "OMIM:121850 DOID:0060448 ICD10:H18.5 MESH:C563256 Orphanet:98970 UMLS:C1562113 SCTID:417183007 ICD9:371.56" +MONDO:0017778 "A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." "OMIM:613943 OMIM:604777 OMIM:242300 MedDRA:10023686 Orphanet:313 OMIM:601277 GARD:0010803 NCIT:C84805 OMIM:612281 MESH:D017490 OMIM:146750 OMIM:606545" +MONDO:0007376 "Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." "OMIM:121850 DOID:0060448 ICD10CM:H18.5 MESH:C563256 Orphanet:98970 SCTID:417183007 UMLS:C1562113 ICD9:371.56" BFO:0000144 "b is a process_profile =Def. there is some process c such that b process_profile_of c (axiom label in BFO2 Reference: [093-002])"@en MONDO:0007568 "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene." "MESH:C537784 OMIM:132900 UMLS:C1851504 Orphanet:91387 GARD:0009876" -MONDO:0006798 "A symptom complex resulting from ingesting excessive amounts of vitamin A." "MESH:D006986 SCTID:64559002 UMLS:C0020579 ICD10:E67.0 MedDRA:10020916 EFO:1000978 DOID:9972 ICD9:278.2" -MONDO:0010818 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene." "UMLS:C1838647 ICD10:H35.5 MESH:C563999 DOID:0110358 OMIM:600105 GARD:0010376" +MONDO:0006798 "A symptom complex resulting from ingesting excessive amounts of vitamin A." "MESH:D006986 SCTID:64559002 UMLS:C0020579 MedDRA:10020916 EFO:1000978 DOID:9972 ICD10CM:E67.0 ICD9:278.2" +MONDO:0010818 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene." "UMLS:C1838647 MESH:C563999 DOID:0110358 OMIM:600105 GARD:0010376" MONDO:0006103 "A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral." "EFO:1000106 NCIT:C48305" MONDO:0012286 "OMIM:609500 UMLS:C2931230" MONDO:0044788 "An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts." "ONCOTREE:PHCH NCIT:C96804" @@ -3865,16 +3862,16 @@ MONDO:0001328 "An inherited autosomal recessive trait, characterized by peripher GO:0072358 MONDO:0000806 "OBSOLETE. A allergy involving a Turbo cornutus." "DOID:0060531" MONDO:0021042 "A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas." "GARD:0006513 Orphanet:182067 NCIT:C3059 MESH:D005910 UMLS:C0017638 SCTID:393564001" -MONDO:0011086 "A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia." "OMIM:601457 MESH:C563311 ICD10:D81.1 UMLS:C1832322 Orphanet:331206 DOID:0090013 GARD:0010339" +MONDO:0011086 "A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia." "OMIM:601457 MESH:C563311 UMLS:C1832322 Orphanet:331206 DOID:0090013 GARD:0010339 ICD10CM:D81.1" MONDO:0009872 "Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome." "OMIM:262000 UMLS:C0266006 MESH:C537633 Orphanet:123 DOID:0050677 GARD:0000022 EFO:0002779" -MONDO:0010722 "ICD10:Q14.1 SCTID:715240000 GARD:0004680 UMLS:C4275241 OMIM:312550 Orphanet:1852" +MONDO:0010722 "ICD10CM:Q14.1 SCTID:715240000 GARD:0004680 UMLS:C4275241 OMIM:312550 Orphanet:1852" CL:0000542 "A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin." "VHOG:0001535 CALOHA:TS-0583 FMA:62863 BTO:0000775" HP:0000834 "Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys." "UMLS:C4021794 MSH:D000307 SNOMEDCT_US:30171000 UMLS:C0001621" MONDO:0018318 "UMLS:CN227320 Orphanet:391381" NCBITaxon:4070 "GC_ID:1" UBERON:0022284 MONDO:0014683 "DOID:0111232 UMLS:C4225291 Orphanet:899 OMIM:616538 Orphanet:370997" -MONDO:0018923 "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." "OMIM:192430 ICD10:D82.1 Orphanet:567 MedDRA:10012979 MedDRA:10066430 GARD:0010299 OMIM:188400" +MONDO:0018923 "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." "OMIM:192430 Orphanet:567 MedDRA:10012979 MedDRA:10066430 GARD:0010299 OMIM:188400" CL:0000333 "A cell derived from the specialized ectoderm flanking each side of the embryonic neural plate, which after the closure of the neural tube, forms masses of cells that migrate out from the dorsal aspect of the neural tube to spread throughout the body." "FMA:86667" MONDO:0012022 "DOID:0080398 OMIM:608371 Orphanet:1991 UMLS:C1842143 MESH:C564251" MONDO:0011924 "UMLS:C1842922 OMIM:607853" @@ -3884,37 +3881,37 @@ CL:0002256 "A supportive cell that has characteristics of glial cell. Processes ECTO:9001804 "An exposure to protein synthesis inhibitor." MONDO:0024247 "A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma." "UMLS:C1332493 NCIT:C6797 SCTID:254715009" MONDO:0100072 "Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients." -MONDO:0003647 "ICD10:H73.81 SCTID:38645004 DOID:5781 UMLS:C0155470 ICD9:384.81" +MONDO:0003647 "SCTID:38645004 DOID:5781 UMLS:C0155470 ICD9:384.81" http://identifiers.org/hgnc/19077 -MONDO:0018028 "Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia)." "SCTID:766755003 ICD10:Q99.8 Orphanet:3309" -MONDO:0017603 "ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK)." "Orphanet:300903 UMLS:C1332078 ICDO:9702/3 EFO:1000083 NCIT:C37194 ICD10:C84.7" -MONDO:0008681 "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor." "GARD:0005528 OMIM:612469 NCIT:C3718 DOID:14515 MESH:D017624 GARD:0001732 OMIM:194072 Orphanet:893 SCTID:715215007 ICD10:Q87.8 UMLS:C0206115 UMLS:C2931803" +MONDO:0018028 "Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia)." "SCTID:766755003 ICD10CM:Q99.8 Orphanet:3309" +MONDO:0017603 "ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK)." "Orphanet:300903 UMLS:C1332078 ICDO:9702/3 EFO:1000083 NCIT:C37194" +MONDO:0008681 "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor." "ICD10CM:Q87.8 GARD:0005528 OMIM:612469 NCIT:C3718 DOID:14515 MESH:D017624 GARD:0001732 OMIM:194072 Orphanet:893 SCTID:715215007 UMLS:C0206115 UMLS:C2931803" MONDO:0100374 "Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)" "NCIT:C9019 NCIT:C27759" MONDO:0007016 "Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia." "MedDRA:10047586 ICD9:264 EFO:1001237 UMLS:C0042842 MESH:D014802 ICD9:264.8 ICD9:264.9 NCIT:C85220 SCTID:72000004 HP:0004905" GO:1901999 "The chemical reactions and pathways involving homogentisate." -MONDO:0018319 "OMIM:615040 UMLS:CN228162 Orphanet:391384 UMLS:CN204967 OMIM:615552 OMIM:615551 DOID:0111728 ICD10:M79.6 GARD:0012684 OMIMPS:615040" +MONDO:0018319 "OMIM:615040 UMLS:CN228162 Orphanet:391384 UMLS:CN204967 ICD10CM:M79.6 OMIM:615552 OMIM:615551 DOID:0111728 GARD:0012684 OMIMPS:615040" MONDO:0020607 "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene." "OMIM:177200" MONDO:0004168 "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes." "DOID:7269 UMLS:C1515292 NCIT:C40957" MONDO:0012021 "UMLS:C3888211 OMIM:608367" UBERON:0013645 MONDO:0011089 "GARD:0010483 ICD9:747.49 SCTID:253330006 OMIM:601466 MESH:C562830" MONDO:0032739 "OMIM:618420" -MONDO:0002449 "SCTID:72620002 ICD10:H18.45 DOID:2879 ICD9:371.46 UMLS:C0155122" -MONDO:0014808 "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene." "ICD10:P78.3 Orphanet:103908 DOID:0060777 OMIM:616868 UMLS:CN515063" +MONDO:0002449 "SCTID:72620002 DOID:2879 ICD9:371.46 UMLS:C0155122" +MONDO:0014808 "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene." "Orphanet:103908 DOID:0060777 OMIM:616868 UMLS:CN515063" MONDO:0012288 "MESH:C535534 GARD:0010058 OMIM:609515 UMLS:C1836074" GO:0042762 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur, the nonmetallic element sulfur or compounds that contain sulfur." GO:0002862 "Any process that stops, prevents, or reduces the frequency, rate, or extent of an inflammatory response to an antigenic stimulus." MONDO:0030339 "OMIM:619453" -MONDO:0018316 "UMLS:CN204961 Orphanet:391343 ICD10:G04.8" -MONDO:0006004 "Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose." "NCIT:C34988 MESH:D012223 ICD10:J30.0 UMLS:C0035460 DOID:4730 SCTID:8229003 EFO:0007533" +MONDO:0018316 "UMLS:CN204961 Orphanet:391343 ICD10CM:G04.8" +MONDO:0006004 "Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose." "NCIT:C34988 MESH:D012223 UMLS:C0035460 DOID:4730 SCTID:8229003 EFO:0007533 ICD10CM:J30.0" CHEBI:25693 MONDO:0002446 -MONDO:0013487 "ICD9:279.8 MESH:C565027 UMLS:C0398764 Orphanet:169467 ICD10:D84.1 OMIM:613912 SCTID:234607008" +MONDO:0013487 "ICD9:279.8 MESH:C565027 UMLS:C0398764 Orphanet:169467 ICD10CM:D84.1 OMIM:613912 SCTID:234607008" http://identifiers.org/hgnc/23658 MONDO:0032733 "OMIM:618412" MONDO:0004689 "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals." "UMLS:C0025534 MESH:D008664 DOID:896" MONDO:0019513 "Orphanet:88993" -MONDO:0020365 "Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." "ICD10:H18.5 SCTID:416633008 Orphanet:98975" +MONDO:0020365 "Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." "SCTID:416633008 OMIM:121700 ICD10CM:H18.5 Orphanet:98975" MONDO:0008540 "Orphanet:3294 UMLS:C2931376 GARD:0002597 OMIM:187390 MESH:C566068" MONDO:0011926 "OMIM:607857 DOID:0111284" GO:0071621 "The movement of a granulocyte in response to an external stimulus." @@ -3931,63 +3928,63 @@ MONDO:0013221 "UMLS:C2750077 OMIM:613318 MESH:C567646 Orphanet:45448 DOID:00702 MONDO:0014686 "OMIM:616541 UMLS:C4225288" MONDO:0010727 "OMIM:312780 SCTID:702412005 Orphanet:813 ICD9:758.81" MONDO:0001248 -MONDO:0004660 "A carcinoma in situ involving a lung." "DOID:8800 ICD10:D02.2 ICD9:231.2 SCTID:92649001 UMLS:C0685053 NCIT:C27467" -MONDO:0008346 "Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients." "ICD10:J84.03 SCTID:40527005 GARD:0007645 MESH:D012806 OMIM:235500 DOID:10328 ICD10:J99.8* Orphanet:99931 ICD10:J63.4 ICD9:516.1 GARD:0006763 OMIM:178550 DOID:12118 ICD10:E83.1+" +MONDO:0004660 "A carcinoma in situ involving a lung." "DOID:8800 ICD9:231.2 SCTID:92649001 UMLS:C0685053 NCIT:C27467" +MONDO:0008346 "Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients." "ICD10EXP:E83.1+ SCTID:40527005 GARD:0007645 MESH:D012806 OMIM:235500 ICD10EXP:J99.8* DOID:10328 Orphanet:99931 ICD9:516.1 GARD:0006763 OMIM:178550 DOID:12118" MONDO:0018317 "UMLS:CN204964 Orphanet:391366" -MONDO:0021494 "A benign neoplasm that involves the parotid gland." "NCIT:C4770 SCTID:92279000 UMLS:C0496857 ICD10:D11.0" +MONDO:0021494 "A benign neoplasm that involves the parotid gland." "NCIT:C4770 ICD10CM:D11.0 SCTID:92279000 UMLS:C0496857" MONDO:0013488 "OMIM:613913 UMLS:C3151347" HP:0000144 "UMLS:C0520927 SNOMEDCT_US:17276009" -MONDO:0013026 "Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." "Orphanet:98959 OMIM:612867 UMLS:C2748503 DOID:0060454 SCTID:723582004 MESH:C567547 ICD10:H18.5" +MONDO:0013026 "Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." "Orphanet:98959 ICD10CM:H18.5 OMIM:612867 UMLS:C2748503 DOID:0060454 SCTID:723582004 MESH:C567547" MONDO:0032732 "OMIM:618410 DOID:0111636" NCBITaxon:327045 "GC_ID:1" -MONDO:0004840 "ICD10:N28.1 ICD9:593.2 DOID:9621 SCTID:105999006 UMLS:C0268799" +MONDO:0004840 "ICD9:593.2 DOID:9621 SCTID:105999006 UMLS:C0268799" NCBITaxon:84642 "GC_ID:11" MONDO:0006247 "Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)" "DOID:5621 Orphanet:98287 EFO:1000297 UMLS:CN206982 UMLS:C1334030 NCIT:C9294" MONDO:0017119 "Orphanet:269528 UMLS:CN202469" -MONDO:0013222 "DOID:0070201 UMLS:C2750076 OMIM:613319 ICD10:G71.0 Orphanet:399096 MESH:C567645" +MONDO:0013222 "DOID:0070201 UMLS:C2750076 OMIM:613319 Orphanet:399096 ICD10CM:G71.0 MESH:C567645" http://identifiers.org/hgnc/26158 MONDO:0012026 http://identifiers.org/hgnc/24858 -MONDO:0019150 "Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles." "OMIM:615248 ICD10:I42.5 UMLS:CN205687 OMIM:609578 OMIM:115210 OMIM:612422 Orphanet:75249 OMIM:617047" +MONDO:0019150 "Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles." "OMIM:615248 UMLS:CN205687 OMIM:609578 OMIM:115210 OMIM:612422 Orphanet:75249 OMIM:617047" MONDO:0003642 UBERON:0022288 MONDO:0025425 "A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea." "MESH:D006522" MONDO:0030337 "OMIM:619451" -MONDO:0019306 "A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." "OMIM:615022 OMIM:242100 OMIM:612281 OMIM:615023 OMIM:606545 ICD10:Q80.2 Orphanet:79394 HP:0007431 OMIM:615024 DOID:1699 SCTID:205550003" +MONDO:0019306 "A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." "OMIM:615022 OMIM:242100 OMIM:612281 OMIM:615023 OMIM:606545 Orphanet:79394 HP:0007431 OMIM:615024 DOID:1699 SCTID:205550003 ICD10CM:Q80.2" MONDO:0032736 "OMIM:618416" MONDO:0015189 "OBSOLETE. An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." -MONDO:0014421 "UMLS:C1841972 OMIM:615962 Orphanet:786 MESH:C564221 ICD10:E25.8 GARD:0002499" +MONDO:0014421 "UMLS:C1841972 ICD10CM:E25.8 OMIM:615962 Orphanet:786 MESH:C564221 GARD:0002499" MONDO:0006394 "A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." "EFO:1000504 NCIT:C96477 UMLS:C3272804" HP:0002013 "Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions." "SNOMEDCT_US:422400008 SNOMEDCT_US:300359004 UMLS:C0042963 SNOMEDCT_US:249497008 MEDDRA:10047700 MSH:D014839" ECTO:9001687 "An exposure to micronutrient." MONDO:0000049 "OMIMPS:610799 UMLS:CN228622" -MONDO:0019888 "Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported." "SCTID:764500002 Orphanet:96107 ICD10:Q92.3" -MONDO:0017116 "Orphanet:269505 ICD10:Q03.8" +MONDO:0019888 "Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported." "SCTID:764500002 Orphanet:96107" +MONDO:0017116 "Orphanet:269505 ICD10CM:Q03.8" SO:0000248 "A kind of kind of sequence alteration where the copies of a region present varies across a population." NCBITaxon:200643 "GC_ID:11" -MONDO:0006877 "Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix." "MedDRA:10030345 UMLS:C0029051 MESH:D009869 EFO:1001071 SCTID:76047005 DOID:10974 ICD10:N70.92" +MONDO:0006877 "Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix." "MedDRA:10030345 UMLS:C0029051 MESH:D009869 EFO:1001071 SCTID:76047005 DOID:10974" HP:0003808 "UMLS:C0852413" -MONDO:0018838 "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis." "ICD10:Q04.8 DOID:0050453 OMIM:300067 UMLS:C0266463 OMIM:300215 OMIM:607432 OMIM:611603 OMIM:615191 ICD10:Q04.3 Orphanet:48471 HP:0001339 OMIMPS:607432 SCTID:204036008 GARD:0012291 Orphanet:102009 GARD:0007300 NCIT:C103921 MedDRA:10048911 MESH:D054082 OMIM:614019" +MONDO:0018838 "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis." "DOID:0050453 OMIM:300067 UMLS:C0266463 OMIM:300215 OMIM:607432 OMIM:611603 OMIM:615191 Orphanet:48471 HP:0001339 OMIMPS:607432 SCTID:204036008 GARD:0012291 Orphanet:102009 ICD10CM:Q04.3 GARD:0007300 NCIT:C103921 MedDRA:10048911 MESH:D054082 OMIM:614019" GO:0000070 "The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets." UBERON:0007747 -MONDO:0018315 "Orphanet:391330 ICD10:M80.5" -MONDO:0020212 "The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." "ICD9:371.52 ICD10:H18.5 SCTID:430888006 UMLS:C2315777 Orphanet:98625" +MONDO:0018315 "Orphanet:391330" +MONDO:0020212 "The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." "ICD9:371.52 SCTID:430888006 ICD10CM:H18.5 UMLS:C2315777 Orphanet:98625" MONDO:0100074 "Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans." http://identifiers.org/hgnc/19073 MONDO:0032735 "OMIM:618415 DOID:0070354" MONDO:0030338 "OMIM:619452" -MONDO:0003664 "Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies." "NCIT:C34376 ICD10:D55.D59 OMIM:612631 OMIM:266120 EFO:0005558 ICD10:D55-D59 SCTID:61261009 MESH:D000743 DOID:583" +MONDO:0003664 "Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies." "NCIT:C34376 OMIM:612631 OMIM:266120 EFO:0005558 SCTID:61261009 ICD10CM:D55-D59 MESH:D000743 DOID:583" CL:0002599 "A smooth muscle cell of the esophagus." -MONDO:0012919 "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene." "OMIM:612520 ICD10:E10 UMLS:C2675866 MESH:C567286 DOID:0110757" +MONDO:0012919 "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene." "OMIM:612520 UMLS:C2675866 MESH:C567286 DOID:0110757" MONDO:0040678 "A invasive carcinoma that involves the urothelium." "NCIT:C39853 UMLS:C1512751" MONDO:0017205 "Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits." "Orphanet:279897" MONDO:0002445 MONDO:0000048 GO:1901360 "The chemical reactions and pathways involving organic cyclic compound." MONDO:0015062 "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach." "NCIT:C95871 UMLS:C3272399 UMLS:CN197355 ONCOTREE:SWDNET" -MONDO:0016844 "Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." "GARD:0005333 MESH:C535371 SCTID:111311004 Orphanet:261318 ICD9:758.5 ICD10:Q92.2" -MONDO:0010821 "Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal." "Orphanet:1799 UMLS:C1838630 SCTID:721220004 MESH:C563997 GARD:0001823 OMIM:600117 ICD10:F80.1" -MONDO:0017117 "ICD10:Q03.2 SCTID:762295002 ICD10:Q03.1 Orphanet:269510 ICD10:Q03.8" +MONDO:0016844 "Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." "ICD10CM:Q92.2 GARD:0005333 MESH:C535371 SCTID:111311004 Orphanet:261318 ICD9:758.5" +MONDO:0010821 "Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal." "ICD10CM:F80.1 Orphanet:1799 UMLS:C1838630 SCTID:721220004 MESH:C563997 GARD:0001823 OMIM:600117" +MONDO:0017117 "SCTID:762295002 ICD10CM:Q03.1 ICD10CM:Q03.8 ICD10CM:Q03.2 Orphanet:269510" UBERON:0008946 MONDO:0002897 "The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage." "NCIT:C128413 SCTID:240557004 UMLS:C0343676 ICD9:091.89 ICD9:091.9 DOID:4157 MESH:C536773 UMLS:C0149985" CHR:9606-chr2q35 @@ -3996,11 +3993,11 @@ MONDO:0007577 "ICD9:750.3 UMLS:C0341137 SCTID:235623002 OMIM:133240 MESH:C56276 NCBITaxon:1933187 "GC_ID:1" NCBITaxon:11051 "GC_ID:1" UBERON:0003829 -MONDO:0012968 "An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23." "UMLS:C2675458 MESH:C567227 OMIM:612632 Orphanet:886 DOID:0110835 ICD10:H35.5 Orphanet:231169" +MONDO:0012968 "An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23." "UMLS:C2675458 MESH:C567227 OMIM:612632 Orphanet:886 DOID:0110835 Orphanet:231169" MONDO:0009972 "OMIM:267480 MESH:C564848" UBERON:0005125 http://identifiers.org/hgnc/2277 -MONDO:0001409 "An acute or chronic inflammatory disease affecting the esophageal wall." "UMLS:C0149882 MESH:D004941 HP:0100633 ICD9:530.12 ICD9:530.10 ICD10:K20 ICD9:530.1 SCTID:16761005 NCIT:C9224 ICD10:K20.9 DOID:11963 UMLS:C0014868" +MONDO:0001409 "An acute or chronic inflammatory disease affecting the esophageal wall." "UMLS:C0149882 MESH:D004941 HP:0100633 ICD9:530.12 ICD9:530.10 ICD9:530.1 SCTID:16761005 NCIT:C9224 DOID:11963 UMLS:C0014868" MONDO:0010308 "An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present." "UMLS:C3550789 Orphanet:67044 OMIM:300367 NCIT:C136653" MONDO:0032778 "OMIM:618484" http://identifiers.org/hgnc/9577 @@ -4008,32 +4005,32 @@ MONDO:0004818 MONDO:0001871 "An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure." "UMLS:C0341689 NCIT:C35587 SCTID:197585004 DOID:14066" NCBITaxon:583 "PMID:26944634 GC_ID:11" MONDO:0006113 -MONDO:0012235 "Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner." "UMLS:C1836474 ICD10:G11.1 Orphanet:284324 DOID:0080059 OMIM:609270 MESH:C563753 GARD:0012232" -MONDO:0012197 "Aplastic anemia without a known cause." "OMIM:609135 OMIM:614742 ICD10:D61.0 ICD10:D61.3 OMIM:614743 NCIT:C61230 UMLS:C0348890 Orphanet:88 MESH:C538494 GARD:0005836 SCTID:191256002" +MONDO:0012235 "Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner." "UMLS:C1836474 Orphanet:284324 DOID:0080059 OMIM:609270 ICD10CM:G11.1 MESH:C563753 GARD:0012232" +MONDO:0012197 "Aplastic anemia without a known cause." "ICD10CM:D61.3 OMIM:609135 OMIM:614742 OMIM:614743 NCIT:C61230 UMLS:C0348890 Orphanet:88 MESH:C538494 GARD:0005836 SCTID:191256002" MONDO:0032777 "OMIM:618482 DOID:0111296" -MONDO:0008286 "Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994." "GARD:0001617 OMIM:175690 ICD10:Q70.4 MESH:C566773 UMLS:C1867999 Orphanet:2935" +MONDO:0008286 "Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994." "GARD:0001617 OMIM:175690 ICD10CM:Q70.4 MESH:C566773 UMLS:C1867999 Orphanet:2935" MONDO:0006379 -MONDO:0004741 "An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs." "ICD9:270.2 SCTID:190694001 DOID:9275 UMLS:C0268483 NCIT:C98640 ICD10:E70.21 MESH:D020176 OMIMPS:276700" -MONDO:0008774 "Orphanet:79154 DOID:0111453 OMIM:204750 UMLS:C1855626 ICD10:E72.3 OMIM:245130 MESH:C565453" -MONDO:0010173 "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females." "Orphanet:247775 GARD:0007100 ICD9:752.49 SCTID:8793008 Orphanet:3109 OMIM:277000 ICD10:Q51.8" -MONDO:0018683 "Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications." "SCTID:8691004 ICD10:L85.0 Orphanet:454 NCIT:C112831 MESH:C538175 GARD:0000476" +MONDO:0004741 "An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs." "ICD9:270.2 SCTID:190694001 DOID:9275 UMLS:C0268483 NCIT:C98640 MESH:D020176 ICD10CM:E70.21 OMIMPS:276700" +MONDO:0008774 "Orphanet:79154 DOID:0111453 ICD10CM:E72.3 OMIM:204750 UMLS:C1855626 OMIM:245130 MESH:C565453" +MONDO:0010173 "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females." "Orphanet:247775 GARD:0007100 ICD9:752.49 SCTID:8793008 Orphanet:3109 OMIM:277000 ICD10CM:Q51.8" +MONDO:0018683 "Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications." "SCTID:8691004 ICD10CM:L85.0 Orphanet:454 MESH:C538175 NCIT:C112831 GARD:0000476" GO:0002889 "Any process that modulates the frequency, rate, or extent of an immunoglobulin mediated immune response." GO:0004363 "Catalysis of the reaction: L-gamma-glutamyl-L-cysteine + ATP + glycine = ADP + glutathione + 2 H(+) + phosphate." CHEBI:18405 "The monophosphate ester obtained by condensation of phosphoric acid with the primary hydroxy group of pyridoxal." -MONDO:0015399 "Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge." "UMLS:C4303569 UMLS:CN199497 ICD10:Q38.3 Orphanet:141163 SCTID:717814004" +MONDO:0015399 "Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge." "UMLS:C4303569 UMLS:CN199497 Orphanet:141163 ICD10CM:Q38.3 SCTID:717814004" MONDO:0007312 "UMLS:C1861668 OMIM:118301 MESH:C538079" MONDO:0007578 "OMIM:133260" NCBITaxon:11050 "GC_ID:1" -MONDO:0017055 "Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation." "SCTID:723406000 UMLS:C4509879 ICD10:Q86.8 Orphanet:268249" -MONDO:0001514 "Prolapse of the urethral mucosa from the exterior urethral opening." "ICD9:599.5 DOID:12369 ICD10:N81.0 ICD9:618.03 NCIT:C123256 SCTID:12068006 UMLS:C0238502" -MONDO:0007047 "Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later" "Orphanet:38 ICD10:Q82.8 MESH:C535653 DOID:0060362 UMLS:C0545044 GARD:0000133 OMIM:101850 GARD:0000125 EFO:1000758" +MONDO:0017055 "Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation." "SCTID:723406000 ICD10CM:Q86.8 UMLS:C4509879 Orphanet:268249" +MONDO:0001514 "Prolapse of the urethral mucosa from the exterior urethral opening." "ICD9:599.5 DOID:12369 ICD9:618.03 ICD10CM:N81.0 NCIT:C123256 SCTID:12068006 UMLS:C0238502" +MONDO:0007047 "Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later" "MESH:C535653 OMIM:101850 GARD:0000133 GARD:0000125 Orphanet:38 ICD10CM:Q82.8 UMLS:C0545044 DOID:0060362 EFO:1000758" MONDO:0030118 "OMIM:618907" CHEBI:74783 "A compound that causes the contraction of body tissues, typically used to reduce bleeding from minor abrasions." http://identifiers.org/hgnc/1912 -MONDO:0018351 "A adenocarcinoma that involves the penis." "ICD10:C60.1 Orphanet:398053 ICD10:C60.2 ICD10:C60.8 ICD10:C60.0 ICD10:C60.9" +MONDO:0018351 "A adenocarcinoma that involves the penis." "ICD10CM:C60.1 ICD10CM:C60.2 Orphanet:398053 ICD10CM:C60.9 ICD10CM:C60.8 ICD10CM:C60.0" http://identifiers.org/hgnc/9312 http://identifiers.org/hgnc/21246 -MONDO:0002811 "A malignant neoplasm involving the main bronchus." "SCTID:372065009 DOID:3924 ICD9:162.2 UMLS:C0153490 ICD10:C34.0" +MONDO:0002811 "A malignant neoplasm involving the main bronchus." "SCTID:372065009 DOID:3924 ICD9:162.2 UMLS:C0153490" MONDO:0006114 MONDO:0013195 "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene." "OMIM:613243 DOID:0110319 MESH:C567686 UMLS:C2750472" http://identifiers.org/hgnc/1078 @@ -4042,11 +4039,11 @@ MONDO:0032776 "OMIM:618481 DOID:0111634" MONDO:0008773 "GARD:0000763 OMIM:204730 UMLS:C1859818 MESH:C565960" MONDO:0004953 "The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both." "DOID:3008 NCIT:C4194 NCIT:C4017 ONCOTREE:IDC MESH:D018270 ICD9:174.8 EFO:0000186 SCTID:408643008 ICDO:8521/3 ICDO:8500/3" GO:0090284 "Any process that increases the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus." -MONDO:0017928 "9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia)." "Orphanet:324313 SCTID:764725008 UMLS:CN204067 ICD10:Q93.5" +MONDO:0017928 "9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia)." "Orphanet:324313 SCTID:764725008 UMLS:CN204067 ICD10CM:Q93.5" UBERON:0006321 -MONDO:0010867 "PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990." "OMIM:600331 ICD10:Q87.8 GARD:0004223 Orphanet:2825 MESH:C537174 UMLS:C1838256" +MONDO:0010867 "PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990." "OMIM:600331 ICD10CM:Q87.8 GARD:0004223 Orphanet:2825 MESH:C537174 UMLS:C1838256" MONDO:0100403 "Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)" "NCIT:C36499" -MONDO:0012321 "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36." "DOID:0110043 OMIM:609636 UMLS:C1864828 MESH:C566465 ICD10:G30" +MONDO:0012321 "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36." "ICD10CM:G30 DOID:0110043 OMIM:609636 UMLS:C1864828 MESH:C566465" MONDO:0007579 "OMIM:133270" CHR:9606-chr2q33 MONDO:0000812 "A disease involving the vertebral column." "UMLS:C0037933 ICD9:724.9 MESH:D013122 DOID:0060564 SCTID:699699005" @@ -4064,14 +4061,14 @@ GO:1902571 "Any process that modulates the frequency, rate or extent of serine-t NCBITaxon:35268 HP:0012093 "A function abnormality of the endocrine pancreas." "UMLS:C4023047" BFO:0000023 "A realizable entity the manifestation of which brings about some result or end that is not essential to a continuant in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant in some kinds of natural, social or institutional contexts."@en -MONDO:0013463 "Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene." "DOID:0060772 UMLS:C3151221 Orphanet:860 ICD10:Q20.3 OMIM:613854" +MONDO:0013463 "Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene." "DOID:0060772 UMLS:C3151221 Orphanet:860 OMIM:613854" PATO:0001822 "A quality inhering in a bearer by virtue of whether the bearer's being covered by a liquid." GO:0052856 "Catalysis of the reaction: (R)-NADHX = (S)-NADHX." NCBITaxon:11052 "GC_ID:1" MONDO:0054582 "OMIM:617466" MONDO:0007314 "MESH:C535552 UMLS:C2930928 GARD:0001265 OMIM:118350" -MONDO:0016833 "14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." "UMLS:CN202163 SCTID:719574007 Orphanet:261144 ICD10:Q93.5 UMLS:C4305240" -MONDO:0024268 "A mycosis that is limited to the stratum corneum and essentially elicits no inflammation." "ICD9:117.9 SCTID:402135006 MESH:D010854 UMLS:C0031898 ICD10:B36.9 DOID:0050133 UMLS:C2980104 SCTID:276206000" +MONDO:0016833 "14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months." "UMLS:CN202163 SCTID:719574007 ICD10CM:Q93.5 Orphanet:261144 UMLS:C4305240" +MONDO:0024268 "A mycosis that is limited to the stratum corneum and essentially elicits no inflammation." "ICD9:117.9 SCTID:402135006 MESH:D010854 UMLS:C0031898 DOID:0050133 UMLS:C2980104 SCTID:276206000" MONDO:0030116 "OMIM:618905" MONDO:0032779 "OMIM:618492" MONDO:0014877 "Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene." "UMLS:C4310754 OMIM:617030" @@ -4080,22 +4077,22 @@ http://identifiers.org/hgnc/7179 http://identifiers.org/hgnc/6814 MONDO:0004819 "SCTID:441313008 DOID:9550 NCIT:C7150 UMLS:C2049069" MONDO:0007346 "Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant." "MESH:C536432 OMIM:120040 UMLS:C1861512 Orphanet:3233 GARD:0009418 SCTID:715528001" -MONDO:0007145 "Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies." "GARD:0000755 Orphanet:1114 SCTID:35484002 GARD:0005835 NCIT:C98822 OMIM:107600 ICD9:757.39 ICD10:Q84.8 HP:0001057" -MONDO:0016266 "A squamous cell carcinoma that involves the body of uterus." "ICD10:C50 Orphanet:213716" -MONDO:0000908 "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene." "UMLS:C3810138 ICD10:I42.8 DOID:0110084 OMIM:615616 Orphanet:217656" +MONDO:0007145 "Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies." "GARD:0000755 Orphanet:1114 SCTID:35484002 GARD:0005835 NCIT:C98822 ICD10CM:Q84.8 OMIM:107600 ICD9:757.39 HP:0001057" +MONDO:0016266 "A squamous cell carcinoma that involves the body of uterus." "Orphanet:213716 ICD10CM:C50" +MONDO:0000908 "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene." "UMLS:C3810138 DOID:0110084 OMIM:615616 Orphanet:217656" UBERON:0008982 MONDO:0006696 "Loss or destruction of the epithelial lining of the uterine cervix." "SCTID:61253004 MESH:D002579 EFO:1000862 DOID:3456 UMLS:C0007869 MedDRA:10015128" -MONDO:0018095 "Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977." "ICD10:Q87.8 Orphanet:3448 UMLS:CN204431" +MONDO:0018095 "Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977." "Orphanet:3448 ICD10CM:Q87.8 UMLS:CN204431" MONDO:0016743 "A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions." "SCTID:126965008 ONCOTREE:MNGT Orphanet:252025 NCIT:C3229 ICD9:239.7 MedDRA:10061282 UMLS:C0025284" UBERON:0006585 -MONDO:0013171 "Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations." "SCTID:60743005 Orphanet:760 OMIM:613179 MESH:C562587 UMLS:C0268125 DOID:5813 ICD9:277.2 GARD:0004606 ICD10:D81.5 HGNC:7892 NCIT:C3963" +MONDO:0013171 "Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations." "SCTID:60743005 Orphanet:760 OMIM:613179 MESH:C562587 DOID:5813 UMLS:C0268125 ICD9:277.2 GARD:0004606 HGNC:7892 NCIT:C3963" GO:0006750 "The chemical reactions and pathways resulting in the formation of glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins." MONDO:0015070 "A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma." "NCIT:C6023 DOID:5457 UMLS:C1334374 SCTID:707625001 Orphanet:100083" MONDO:0037003 "A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases." "ICDO:9020/3 NCIT:C4275" http://identifiers.org/hgnc/17513 MONDO:0009976 "OMIM:267740 UMLS:C1849416 MESH:C564847" -MONDO:0019568 "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene." "MESH:C536195 NCIT:C125697 Orphanet:90318 UMLS:C0268336 ICD10:Q79.6 OMIM:130010" -MONDO:0016425 "Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis." "Orphanet:228116 SCTID:721226005 ICD10:I28.8 UMLS:CN201382" +MONDO:0019568 "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene." "ICD10CM:Q79.6 MESH:C536195 NCIT:C125697 Orphanet:90318 UMLS:C0268336 OMIM:130010" +MONDO:0016425 "Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis." "ICD10CM:I28.8 Orphanet:228116 SCTID:721226005 UMLS:CN201382" GO:1904675 "Any process that modulates the frequency, rate or extent of somatic stem cell division." UBERON:0003825 UBERON:5003625 @@ -4116,14 +4113,14 @@ ENVO:01000355 "A layer which is determined by a form of vegetation." MONDO:0002937 "A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated." "NCIT:C5568 UMLS:C1304300 SCTID:403910009 DOID:4280" UBERON:0003826 UBERON:0009920 -MONDO:0012895 "A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12." "MESH:C567319 OMIM:612406 UMLS:C2676281 DOID:0090042 ICD10:G24.1 Orphanet:370103" -MONDO:0012161 "Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes." "SCTID:766983005 OMIM:608957 ICD10:D84.8 MESH:C563824 Orphanet:169085 UMLS:C1837065" +MONDO:0012895 "A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12." "MESH:C567319 OMIM:612406 UMLS:C2676281 DOID:0090042 ICD10CM:G24.1 Orphanet:370103" +MONDO:0012161 "Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes." "SCTID:766983005 ICD10CM:D84.8 OMIM:608957 MESH:C563824 Orphanet:169085 UMLS:C1837065" MONDO:0004365 "A uveal melanoma characterized by the presence of tumor cell necrosis." "UMLS:C1334931 DOID:7808 NCIT:C7990" MONDO:0013154 "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." "DOID:0111240 UMLS:C3150411 NCIT:C126742 OMIM:613150 Orphanet:899 Orphanet:588" -MONDO:0013053 "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." "SCTID:719395001 OMIM:612946 UMLS:C2751878 MESH:C567850 Orphanet:217026 ICD10:Q87.8" +MONDO:0013053 "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." "SCTID:719395001 OMIM:612946 ICD10CM:Q87.8 UMLS:C2751878 MESH:C567850 Orphanet:217026" CL:0019018 "A smooth muscle cell that is part of any blood vessel." UBERON:0005388 -MONDO:0018772 "Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." "OMIMPS:213300 OMIM:616654 ICD10:Q04.3 OMIM:213300 OMIM:614615 OMIM:612291 OMIM:615636 OMIM:614970 OMIM:616784 OMIM:617121 NCIT:C74996 OMIM:616781 SCTID:716997004 OMIM:614173 OMIM:617120 GARD:0006802 OMIM:616490 OMIM:614464 DOID:0050777 OMIM:614424 OMIM:610688 Orphanet:475" +MONDO:0018772 "Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." "OMIMPS:213300 OMIM:616654 OMIM:213300 OMIM:614615 OMIM:612291 OMIM:615636 OMIM:614970 OMIM:616784 OMIM:617121 NCIT:C74996 OMIM:616781 SCTID:716997004 OMIM:614173 OMIM:617120 ICD10CM:Q04.3 GARD:0006802 OMIM:616490 OMIM:614464 DOID:0050777 OMIM:614424 OMIM:610688 Orphanet:475" CL:0000058 "Skeletogenic cell that is typically non-terminally differentiated, secretes an avascular, GAG rich matrix; is not buried in cartilage tissue matrix, retains the ability to divide, located adjacent to cartilage tissue (including within the perichondrium), and develops from prechondroblast (and thus prechondrogenic) cell." "BTO:0003607 FMA:66783" http://identifiers.org/hgnc/18713 MONDO:0032772 "OMIM:618476" @@ -4140,18 +4137,19 @@ HP:0000096 "Accumulation of scar tissue within the glomerulus." "SNOMEDCT_US:826 CHR:9606-chr2q37 UBERON:0003827 FOODON:03411237 -MONDO:0011062 "UMLS:C1832412 ICD10:Q04.3 Orphanet:1126 MESH:C563331 OMIM:601374" +MONDO:0011062 "UMLS:C1832412 Orphanet:1126 MESH:C563331 OMIM:601374 ICD10CM:Q04.3" UBERON:0005389 MONDO:0007575 UBERON:0007522 MONDO:0010497 "An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features." "OMIM:300958 GARD:0012715 NCIT:C129931 UMLS:C4085582" +MONDO:0000651 "OBSOLETE. A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma." "DOID:0060118 UMLS:C3661979 NCIT:C35742 SCTID:118946009 SCTID:609622007 MESH:D013896 UMLS:C0039978" CL:0001028 "CD7-positive lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-positive and is CD45RA-negative." http://identifiers.org/hgnc/7176 GO:0060295 "Any process that modulates the rate frequency or extent of cilium movement involved in ciliary motility." http://identifiers.org/hgnc/4678 MONDO:0003562 "A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma." "NCIT:C39955 DOID:5639 UMLS:C1514912" MONDO:0008776 "MESH:C565958 UMLS:C1859815 OMIM:204850 GARD:0000657" -MONDO:0002866 "Pathological conditions in the duodenum region of the small intestine (intestine, small)." "ICD9:537.89 SCTID:52182008 UMLS:C0013289 DOID:4072 ICD9:537.9 MESH:D004378" +MONDO:0002866 "Pathological conditions in the duodenum region of the small intestine (intestine, small)." "ICD9:537.89 SCTID:52182008 UMLS:C0013289 ICD10CM:K20-K31 DOID:4072 ICD9:537.9 MESH:D004378" MONDO:0003676 "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart." "NCIT:C35673 DOID:5852" GO:0045642 "Any process that activates or increases the frequency, rate or extent of basophil differentiation." MONDO:0030376 "OMIM:619420" @@ -4161,10 +4159,10 @@ NCBITaxon:279271 "GC_ID:1" MONDO:0012387 "This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals." "Orphanet:75325 GARD:0009904 MESH:C536064 SCTID:722114007 OMIM:609993" GO:0042310 "A decrease in the diameter of blood vessels, especially arteries, due to constriction of smooth muscle cells that line the vessels, and usually causing an increase in blood pressure." http://identifiers.org/hgnc/3214 -MONDO:0019430 "X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers." "Orphanet:85338 UMLS:CN227633 ICD10:G31.8" +MONDO:0019430 "X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers." "Orphanet:85338 UMLS:CN227633 ICD10CM:G31.8" UBERON:0003828 MONDO:0011061 "MESH:C535355 GARD:0009606 OMIM:601372 UMLS:C1832422" -MONDO:0019611 "A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism." "UMLS:C0346303 ICD10:D35.2 Orphanet:91347 NCIT:C8011" +MONDO:0019611 "A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism." "UMLS:C0346303 Orphanet:91347 ICD10CM:D35.2 NCIT:C8011" ECTO:9001718 "An exposure to anti-inflammatory drug." UBERON:0007521 MONDO:0007310 "MESH:C566137 OMIM:118230 UMLS:C1861673" @@ -4179,17 +4177,17 @@ MONDO:0004233 "A rare aggressive rhabdomyosarcoma occurring in children. The neo NCBITaxon:1314 "GC_ID:11" MONDO:0004814 MONDO:0002417 -MONDO:0019414 "X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome)." "MESH:C564519 UMLS:C3502469 OMIM:308205 SCTID:717945001 Orphanet:85284 ICD10:Q87.8" +MONDO:0019414 "X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome)." "MESH:C564519 UMLS:C3502469 OMIM:308205 SCTID:717945001 ICD10CM:Q87.8 Orphanet:85284" UBERON:0006589 MONDO:0032774 "OMIM:618479" -MONDO:0001219 "SCTID:9824006 ICD9:372.01 UMLS:C0155142 ICD10:H10.23 DOID:11197" +MONDO:0001219 "SCTID:9824006 ICD9:372.01 UMLS:C0155142 DOID:11197" NCBITaxon:57077 "GC_ID:1" MONDO:0004575 "A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)" "MESH:D002796 DOID:8456 ICD9:266.2 UMLS:C0008412 SCTID:238113006" -MONDO:0009036 "Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit)." "UMLS:C1857495 SCTID:720606005 MESH:C535578 ICD10:Q87.8 OMIM:218450 GARD:0008586 Orphanet:2872" -MONDO:0008436 "Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa." "SCTID:238776001 UMLS:C0282492 EFO:1001186 Orphanet:820 ICD10:I77.8 MedDRA:10053841 MESH:D018860 OMIM:182410 DOID:13096 GARD:0007664" +MONDO:0009036 "Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit)." "UMLS:C1857495 SCTID:720606005 MESH:C535578 OMIM:218450 ICD10CM:Q87.8 GARD:0008586 Orphanet:2872" +MONDO:0008436 "Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa." "SCTID:238776001 UMLS:C0282492 EFO:1001186 ICD10CM:I77.8 Orphanet:820 MedDRA:10053841 MESH:D018860 OMIM:182410 DOID:13096 GARD:0007664" MONDO:0060456 "OMIM:302700 MESH:C564449" MONDO:0022089 "UMLS:C2930940 MESH:C535585 GARD:0001117" -MONDO:0009478 "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." "UMLS:C1968689 OMIM:243700 NCIT:C126343 GARD:0002816 ICD10:D81.1 Orphanet:217390" +MONDO:0009478 "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." "UMLS:C1968689 OMIM:243700 NCIT:C126343 ICD10CM:D81.1 GARD:0002816 Orphanet:217390" MONDO:0021725 NCBITaxon:6213 "GC_ID:1" FOODON:03411261 "A member of the group of eukaryotic organisms in the kingdom Fungi that includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms."@en @@ -4202,9 +4200,9 @@ MONDO:0021699 "Disorders stemming from the misuse and abuse of alcohol." "MESH:D MONDO:0006088 "A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe." "EFO:1000089 UMLS:C1706829 NCIT:C43550" UBERON:0001425 MONDO:0000281 -MONDO:0004508 "Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess." "EFO:1001391 UMLS:C0031030 DOID:823 ICD10:K04.5 SCTID:39273001 MESH:D010485" +MONDO:0004508 "Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess." "ICD10CM:K04.5 EFO:1001391 UMLS:C0031030 DOID:823 SCTID:39273001 MESH:D010485" UBERON:0003820 -MONDO:0018340 "Orphanet:397692 OMIM:616553 ICD10:D61.0" +MONDO:0018340 "Orphanet:397692 OMIM:616553 ICD10CM:D61.0" GO:0045664 "Any process that modulates the frequency, rate or extent of neuron differentiation." UBERON:0004185 http://identifiers.org/hgnc/1071 @@ -4212,12 +4210,12 @@ MONDO:0022921 "GARD:0000233" MONDO:0009713 "UMLS:C2749509 OMIM:255500 MESH:C567606" CL:0002107 "An IgD-negative CD38-positive IgG memory B cell is a CD38-positive IgG-positive that has class switched and lacks expression of IgD on the cell surface with the phenotype IgD-negative, CD38-positive, and IgG-positive." MONDO:0004256 "A meningioma that arises from the meninges of the lumbar region of the spinal cord." "NCIT:C5298 DOID:7515 UMLS:C1334436" -MONDO:0014629 "A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease." "UMLS:C4225334 Orphanet:444092 ICD10:J84.8 OMIM:616414" -MONDO:0016682 "A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)" "UMLS:C0334588 Orphanet:251579 ICDO:9441/3 DOID:3074 UMLS:C0334593 ICD10:C71.9 NCIT:C4325" +MONDO:0014629 "A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease." "UMLS:C4225334 Orphanet:444092 ICD10CM:J84.8 OMIM:616414" +MONDO:0016682 "A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)" "UMLS:C0334588 Orphanet:251579 ICDO:9441/3 ICD10CM:C71.9 DOID:3074 UMLS:C0334593 NCIT:C4325" CHEBI:88188 "Any drug which causes the onset of an allergic reaction." UBERON:0011250 NCBITaxon:1678143 "GC_ID:1" -MONDO:0017058 "Autosomal recessive form of intermediate Charcot-Marie-Tooth disease." "Orphanet:268337 GARD:0012452 ICD10:G60.0 UMLS:CN202416" +MONDO:0017058 "Autosomal recessive form of intermediate Charcot-Marie-Tooth disease." "Orphanet:268337 GARD:0012452 UMLS:CN202416 ICD10CM:G60.0" CL:0002622 "A stromal cell of the prostate." "BTO:0003972" MONDO:0054588 "OMIM:617506" MONDO:0060455 "OMIM:301015" @@ -4231,88 +4229,88 @@ GO:0060491 "Any process that modulates the rate, frequency, or extent of cell pr MONDO:0005944 "Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis." "MESH:D018353 UMLS:C0206751 EFO:0007469" CHEBI:52217 "Any substance introduced into a living organism with therapeutic or diagnostic purpose." MONDO:0012249 "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene." "DOID:0070274 MESH:D055847 Orphanet:144 OMIM:609310" -MONDO:0015845 "Orphanet:180145 ICD10:Q51.5" +MONDO:0015845 "Orphanet:180145" GO:0044454 "OBSOLETE. Any constituent part of a nuclear chromosome, a chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact." HP:0001376 "A reduction in the freedom of movement of one or more joints." "UMLS:C1857108" UBERON:0010052 -MONDO:0003117 "A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons." "SCTID:397923000 ICD9:300.8 ICD10:F45.9 ICD9:306.8 NCIT:C34956 ICD9:300.81 DOID:4737 ICD10:F45 ICD10:F45.0 SCTID:31297008 MESH:D013001" +MONDO:0003117 "A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons." "SCTID:397923000 ICD9:300.8 ICD10CM:F40-F48 ICD9:306.8 NCIT:C34956 ICD9:300.81 ICD10CM:F45.0 DOID:4737 SCTID:31297008 MESH:D013001" MONDO:0000280 UBERON:0003821 UBERON:0001424 MONDO:0010051 "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents." "GARD:0004932 Orphanet:3011 UMLS:C1849112 OMIM:270950 MESH:C564808" -MONDO:0013560 "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene." "DOID:0060546 UMLS:C3888026 ICD10:E70.3 Orphanet:79430 OMIM:614077 UMLS:CN201510 Orphanet:231537" -MONDO:0015371 "Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene." "ICD10:L90.8 Orphanet:140933 UMLS:C1274753 SCTID:403395007" +MONDO:0013560 "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene." "DOID:0060546 UMLS:C3888026 Orphanet:79430 OMIM:614077 UMLS:CN201510 Orphanet:231537 ICD10CM:E70.3" +MONDO:0015371 "Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene." "Orphanet:140933 UMLS:C1274753 ICD10CM:L90.8 SCTID:403395007" GO:0010721 "Any process that decreases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate." MONDO:0021206 "Chronic form of non-suppurative otitis media." "UMLS:C0395869 SCTID:232254004 ICD9:381.3" -MONDO:0014489 "Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence." "UMLS:C4015184 Orphanet:445110 OMIM:616094 ICD10:G71.0" +MONDO:0014489 "Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence." "UMLS:C4015184 ICD10CM:G71.0 Orphanet:445110 OMIM:616094" MONDO:0005437 "A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis." "SCTID:445338005 UMLS:C2919755 EFO:0004893" GO:0019751 "The chemical reactions and pathways involving a polyol, any alcohol containing three or more hydroxyl groups attached to saturated carbon atoms." NCBITaxon:6211 "GC_ID:1" -MONDO:0013440 "Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles." "DOID:0110293 GARD:0012541 ICD10:G71.0 OMIM:613818 Orphanet:280333 UMLS:C3151184" -MONDO:0015844 "Orphanet:180142 ICD10:Q51.0" +MONDO:0013440 "Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles." "DOID:0110293 GARD:0012541 OMIM:613818 ICD10CM:G71.0 Orphanet:280333 UMLS:C3151184" +MONDO:0015844 "Orphanet:180142" http://identifiers.org/hgnc/12877 MONDO:0032771 "OMIM:618475" MONDO:0003078 "Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow." "DOID:4656 NCIT:C7848 UMLS:C0278719" UBERON:0003822 -MONDO:0014105 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene." "UMLS:C3808981 ICD10:E23.0 DOID:0090090 OMIM:615269" +MONDO:0014105 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene." "UMLS:C3808981 DOID:0090090 OMIM:615269" MONDO:0003827 "A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels." "UMLS:C0859960 NCIT:C27319 DOID:625" GO:0016868 "Catalysis of the transfer of a phosphate group from one position to another within a single molecule." NCIT:C147564 -MONDO:0015517 "Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." "MESH:D017074 OMIM:615767 OMIM:613496 GARD:0006140 OMIM:614699 OMIM:240500 OMIM:613495 MedDRA:10021449 NCIT:C26725 ICD10:D83.1 ICD10:D83 OMIM:614700 ICD10:D83.8 Orphanet:1572 ICD10:D83.0 OMIM:607594 OMIM:613493 SCTID:23238000 OMIM:616576 OMIM:615577 ICD9:279.06 OMIMPS:607594 ICD10:D83.2 UMLS:C0009447 ICD10:D83.9 OMIM:146830 OMIM:613494 DOID:12177" +MONDO:0015517 "Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." "MESH:D017074 OMIM:615767 OMIM:613496 GARD:0006140 OMIM:614699 OMIM:240500 ICD10CM:D83.2 OMIM:613495 MedDRA:10021449 NCIT:C26725 OMIM:614700 Orphanet:1572 OMIM:607594 ICD10CM:D83.0 OMIM:613493 SCTID:23238000 ICD10CM:D83.9 OMIM:616576 OMIM:615577 ICD9:279.06 OMIMPS:607594 UMLS:C0009447 ICD10CM:D83.8 OMIM:146830 ICD10CM:D83.1 OMIM:613494 DOID:12177" MONDO:0002308 "Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva." "GARD:0008445 UMLS:C0009769 DOID:2457 NCIT:C34507 SCTID:231857004 ICD9:372.39" -MONDO:0004939 "A drug dependence for a hallucinogenic substance." "NCIT:C34657 ICD10:F16.2 DOID:9977 ICD9:304.50 SCTID:38247002 ICD9:304.5" -MONDO:0011603 "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps." "Orphanet:602 OMIM:617158 OMIM:605820 GARD:0009493 ICD10:G71.8 SCTID:702382000" -MONDO:0011946 "Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate." "Orphanet:66637 OMIM:608022 ICD10:Q78.8 MESH:C564305 SCTID:721094006 UMLS:C1842691" +MONDO:0004939 "A drug dependence for a hallucinogenic substance." "NCIT:C34657 DOID:9977 ICD9:304.50 SCTID:38247002 ICD9:304.5" +MONDO:0011603 "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps." "ICD10CM:G71.8 Orphanet:602 OMIM:617158 OMIM:605820 GARD:0009493 SCTID:702382000" +MONDO:0011946 "Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate." "Orphanet:66637 OMIM:608022 MESH:C564305 SCTID:721094006 ICD10CM:Q78.8 UMLS:C1842691" NCBITaxon:1678141 "GC_ID:1" UBERON:0003824 GO:0051640 "Any process in which an organelle is transported to, and/or maintained in, a specific location." UBERON:0005386 -MONDO:0013056 "A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease." "ICD10:G31.8 MESH:C567847 SCTID:726702005 DOID:0080349 UMLS:C4512050 OMIM:612949 UMLS:C2751855 Orphanet:353217" +MONDO:0013056 "A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease." "MESH:C567847 SCTID:726702005 ICD10CM:G31.8 DOID:0080349 UMLS:C4512050 OMIM:612949 UMLS:C2751855 Orphanet:353217" UBERON:0011252 MONDO:0060457 "OMIM:617388" MONDO:0022096 "A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma." "UMLS:C0085653 GARD:0010963 SCTID:200722003 MESH:D017789" NCBITaxon:6210 "PMID:12377596 PMID:18180956 PMID:12964823 PMID:17156584 PMID:16352465 GC_ID:1 PMID:18338180" http://identifiers.org/hgnc/20041 -MONDO:0001007 "Chronic form of meningitis (disease)." "DOID:10341 ICD9:322.2 SCTID:21664006 ICD10:G03.1 UMLS:C0154653" +MONDO:0001007 "Chronic form of meningitis (disease)." "DOID:10341 ICD9:322.2 SCTID:21664006 UMLS:C0154653 ICD10CM:G03.1" MONDO:0017141 "Orphanet:275729 UMLS:CN227098" -MONDO:0015843 "ICD10:Q51.8 Orphanet:180139 MedDRA:10063146" +MONDO:0015843 "Orphanet:180139 ICD10CM:Q51.8 MedDRA:10063146" UBERON:0003823 -MONDO:0016600 "Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." "UMLS:CN201793 ICD10:E72.2 Orphanet:247546" +MONDO:0016600 "Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." "UMLS:CN201793 ICD10CM:E72.2 Orphanet:247546" MONDO:0003743 "A malignant hemangiopericytoma arising in the heart." "NCIT:C5365 UMLS:C1334567 DOID:6034" UBERON:0004188 -MONDO:0019161 "Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." "UMLS:C0268436 Orphanet:756 ICD10:N25.8 ICD9:275.8 OMIM:264350 MESH:D011546 OMIM:177735 NCIT:C123251 SCTID:43941006" +MONDO:0019161 "Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." "UMLS:C0268436 Orphanet:756 ICD10CM:N25.8 ICD9:275.8 OMIM:264350 MESH:D011546 OMIM:177735 NCIT:C123251 SCTID:43941006" ENVO:01001838 "A biome which is subject to arid environmental conditions." NCBITaxon:2698737 "GC_ID:1" -MONDO:0016778 "Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use." "Orphanet:254509 UMLS:C4288922 NCIT:C128345 ICD10:A05.1" +MONDO:0016778 "Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use." "ICD10CM:A05.1 Orphanet:254509 UMLS:C4288922 NCIT:C128345" GO:0045936 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving phosphates." -MONDO:0007998 "Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." "MESH:C536540 Orphanet:2551 GARD:0005481 UMLS:C1834880 OMIM:157151 ICD10:Q87.5" +MONDO:0007998 "Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects." "MESH:C536540 Orphanet:2551 ICD10CM:Q87.5 GARD:0005481 UMLS:C1834880 OMIM:157151" http://identifiers.org/hgnc/13815 -MONDO:0015842 "SCTID:31401003 ICD10:Q51.3 Orphanet:180134 MedDRA:10004550" -MONDO:0018281 "Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time." "Orphanet:371007 ICD10:G71.2 SCTID:763314009" +MONDO:0015842 "SCTID:31401003 Orphanet:180134 MedDRA:10004550" +MONDO:0018281 "Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time." "Orphanet:371007 ICD10CM:G71.2 SCTID:763314009" NCIT:C12919 http://identifiers.org/hgnc/17772 -MONDO:0020524 "OMIM:600166 ICD10:E21.0 Orphanet:99878" -MONDO:0044739 "ICD10:L51.8 Orphanet:506784" +MONDO:0020524 "OMIM:600166 ICD10CM:E21.0 Orphanet:99878" +MONDO:0044739 "Orphanet:506784" UBERON:0001421 -MONDO:0016115 "A bulbospinal muscular atrophy that occurs in an adult." "Orphanet:206707 ICD10:G12.2" +MONDO:0016115 "A bulbospinal muscular atrophy that occurs in an adult." "Orphanet:206707 ICD10CM:G12.2" CL:1000324 "A goblet cell that is part of the epithelium proper of duodenum." "FMA:263063" -MONDO:0021470 "A benign neoplasm that involves the pancreas." "NCIT:C4612 SCTID:92264007 ICD10:D13.6 UMLS:C0347284" +MONDO:0021470 "A benign neoplasm that involves the pancreas." "NCIT:C4612 SCTID:92264007 UMLS:C0347284 ICD10CM:D13.6" NCIT:C13018 UBERON:0035201 CHEBI:49637 GO:0000959 "The chemical reactions and pathways involving RNA transcribed from the mitochondrial genome and occurring in the mitochondrion." -MONDO:0009259 "Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported." "Orphanet:33574 OMIM:230450 SCTID:36799008 ICD10:D55.1 DOID:0111681 ICD9:270.8 MESH:C565557" +MONDO:0009259 "Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported." "Orphanet:33574 OMIM:230450 SCTID:36799008 DOID:0111681 ICD9:270.8 MESH:C565557 ICD10CM:D55.1" http://identifiers.org/hgnc/18971 GO:1902667 "Any process that modulates the frequency, rate or extent of axon guidance." MONDO:0041536 "A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe." "SCTID:47277009 UMLS:C0277513" MONDO:0001436 "Accumulation of iron in internal organs." "GARD:0006595 UMLS:C0019114 NCIT:C82892 MESH:D006486 SCTID:39011001 DOID:12119" -MONDO:0009315 "Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." "GARD:0006558 ICD9:286.3 Orphanet:330 OMIM:234000 MESH:D005175 ICD10:D68.2 NCIT:C131740 UMLS:C0015526 SCTID:46981006 DOID:2231" +MONDO:0009315 "Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." "GARD:0006558 ICD9:286.3 Orphanet:330 OMIM:234000 MESH:D005175 NCIT:C131740 UMLS:C0015526 SCTID:46981006 DOID:2231 ICD10CM:D68.2" CL:0000017 "A male germ cell that develops from spermatogonia. The euploid primary spermatocytes undergo meiosis and give rise to the haploid secondary spermatocytes which in turn give rise to spermatids." "CALOHA:TS-0951 BTO:0001275 EMAPA:31484 WBbt:0006799 FMA:84049 FBbt:00004936" GO:0099547 "Any process that modulates synaptic transmission by regulating translation occurring at the synapse." -MONDO:0015470 "Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia." "OMIM:605582 OMIM:612158 OMIM:615373 OMIM:613740 OMIM:611880 OMIM:615396 OMIM:601494 OMIM:613172 ICD10:I42.0 OMIM:611615 OMIM:613881 OMIM:611407 OMIM:611879 OMIM:613697 OMIM:609915 OMIM:601154 OMIM:604765 OMIM:613694 OMIM:611878 OMIM:606685 OMIM:609909 OMIM:613424 OMIM:613252 OMIM:614672 OMIM:601493 OMIM:604145 Orphanet:154 UMLS:C0340427 OMIM:612877 OMIM:613286 OMIM:613642 OMIM:615916 OMIM:615235 OMIM:613426 OMIM:607482 OMIM:608569 OMIM:615248 UMLS:CN199609 OMIM:604288 OMIM:302045 OMIM:613122 OMIM:615184 OMIM:600884" -MONDO:0019792 "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." "ICD10:G11.8 UMLS:CN206744 Orphanet:94145" +MONDO:0015470 "Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia." "OMIM:605582 OMIM:612158 OMIM:615373 OMIM:613740 OMIM:611880 OMIM:615396 OMIM:613172 OMIM:601494 OMIM:611615 OMIM:613881 OMIM:611407 OMIM:611879 OMIM:613697 OMIM:609915 OMIM:601154 OMIM:604765 OMIM:613694 OMIM:611878 OMIM:606685 OMIM:609909 OMIM:613424 OMIM:613252 OMIM:614672 OMIM:601493 OMIM:604145 Orphanet:154 UMLS:C0340427 OMIM:612877 OMIM:613286 OMIM:613642 OMIM:615916 OMIM:615235 OMIM:613426 ICD10CM:I42.0 OMIM:607482 OMIM:608569 OMIM:615248 UMLS:CN199609 OMIM:604288 OMIM:302045 OMIM:613122 OMIM:615184 OMIM:600884" +MONDO:0019792 "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." "UMLS:CN206744 ICD10CM:G11.8 Orphanet:94145" CHEBI:17137 -MONDO:0021449 "A benign neoplasm that involves the stomach." "ICD10:D13.1 ICD9:211.1 SCTID:92411005 NCIT:C3599 UMLS:C0153943" +MONDO:0021449 "A benign neoplasm that involves the stomach." "ICD9:211.1 SCTID:92411005 NCIT:C3599 ICD10CM:D13.1 UMLS:C0153943" MONDO:0024661 "An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features." "ICDO:8263/0 UMLS:C0334307 NCIT:C4143" UBERON:0001686 MONDO:0044738 "OMIM:617557 UMLS:C4479652 Orphanet:506358" @@ -4321,30 +4319,30 @@ MONDO:0022926 "MESH:C535768 GARD:0000236" UBERON:0010056 UBERON:0004182 MONDO:0024486 -MONDO:0004425 "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor." "OMIM:603373 MESH:D006980 NCIT:C3123 ICD9:242.90 DOID:7998 EFO:0009189 OMIM:609152 SCTID:34486009 Orphanet:99819 ICD10:E05.9" +MONDO:0004425 "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor." "OMIM:603373 MESH:D006980 NCIT:C3123 ICD9:242.90 DOID:7998 EFO:0009189 OMIM:609152 SCTID:34486009 Orphanet:99819" MONDO:0021429 "A squamous cell carcinoma that involves the mouth floor." "NCIT:C4041 SCTID:276954004 UMLS:C0280300" MONDO:0007317 "OMIM:118430 UMLS:C1861630" HP:0011276 "UMLS:C0162819 SNOMEDCT_US:11263005 UMLS:C1842892 MSH:D017445" MONDO:0016680 "An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor)." "Orphanet:251561 NCIT:C102897 UMLS:C3640999" -MONDO:0009716 "Orphanet:3101 GARD:0004709 OMIM:255710 UMLS:C2930978 ICD10:Q87.8 MESH:C535675" +MONDO:0009716 "Orphanet:3101 GARD:0004709 OMIM:255710 ICD10CM:Q87.8 UMLS:C2930978 MESH:C535675" UBERON:0005381 GO:0016842 "Catalysis of the release of amides or amidines by the cleavage of a carbon-nitrogen bond or the reverse reaction with an amide or amidine as a substrate." UBERON:0000488 -MONDO:0015351 "This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." "ICD10:G60.8 Orphanet:139512 UMLS:CN199414 SCTID:723497003" +MONDO:0015351 "This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy." "ICD10CM:G60.8 Orphanet:139512 UMLS:CN199414 SCTID:723497003" MONDO:0003190 "A carcinoma that arises from epithelial cells of the middle ear" "DOID:4893 NCIT:C6089 UMLS:C1334760" -MONDO:0013227 "Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." "ICD10:D68.8 Orphanet:465 NCIT:C133884 MESH:C567640 OMIM:613329 GARD:0004381 SCTID:717407006" +MONDO:0013227 "Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." "Orphanet:465 NCIT:C133884 MESH:C567640 ICD10CM:D68.8 OMIM:613329 GARD:0004381 SCTID:717407006" MONDO:0023022 "GARD:0001992" -MONDO:0017878 "Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since." "UMLS:C4274434 ICD10:A96.8 Orphanet:319244 SCTID:716584007 UMLS:CN203927 DOID:0050198" +MONDO:0017878 "Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since." "UMLS:C4274434 Orphanet:319244 SCTID:716584007 ICD10CM:A96.8 UMLS:CN203927 DOID:0050198" http://identifiers.org/hgnc/1077 NCIT:C12917 MONDO:0044737 "Orphanet:506353" UBERON:0001423 MONDO:0015244 "Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years." "Orphanet:1172 DOID:0050950 UMLS:CN226644 OMIMPS:213200" -MONDO:0012033 "Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia." "GARD:0012299 ICD9:368.8 Orphanet:75374 OMIM:608415 SCTID:711163009 MESH:C564243 DOID:0050335 ICD10:H53.8" -MONDO:0023288 "UMLS:C2931777 MESH:C538221 GARD:0002447" +MONDO:0012033 "Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia." "GARD:0012299 ICD9:368.8 Orphanet:75374 OMIM:608415 SCTID:711163009 ICD10CM:H53.8 MESH:C564243 DOID:0050335" +MONDO:0023288 "UMLS:C2931777 MESH:C538221 OMIM:601446 GARD:0002447" UBERON:0004183 -MONDO:0020526 "UMLS:CN207426 Orphanet:99887 ICD10:C94.2" -MONDO:0012450 "Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." "UMLS:C4274988 DOID:0050977 SCTID:715824008 Orphanet:101109 ICD10:G11.1 OMIM:610246 UMLS:C1853249 GARD:0009951 MESH:C537205" +MONDO:0020526 "UMLS:CN207426 ICD10CM:C94.2 Orphanet:99887" +MONDO:0012450 "Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." "UMLS:C4274988 DOID:0050977 SCTID:715824008 Orphanet:101109 ICD10CM:G11.1 OMIM:610246 UMLS:C1853249 GARD:0009951 MESH:C537205" UBERON:0035465 MONDO:0006187 "A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." "DOID:0050927 UMLS:C1333322 NCIT:C5338 EFO:1000225" UBERON:0000489 @@ -4353,8 +4351,8 @@ PATO:0001309 "A process quality inhering in a bearer by virtue of the bearer's m http://identifiers.org/hgnc/6819 UBERON:0000068 "A life cycle stage that starts with fertilization and ends with the fully formed embryo." MONDO:0005616 "A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells." "NCIT:C45544 EFO:0006740 ONCOTREE:LUMEC UMLS:C1708778 DOID:0050932" -MONDO:0012315 "Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay." "UMLS:C2674937 OMIM:609625 UMLS:C4305277 DOID:0060390 SCTID:718687003 GARD:0003711 ICD10:Q93.5 MESH:C567182 Orphanet:96148" -MONDO:0015435 "Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported." "SCTID:765484001 MESH:C538310 ICD10:Q93.2 GARD:0001333 Orphanet:1443 UMLS:CN036553" +MONDO:0012315 "Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay." "UMLS:C2674937 ICD10CM:Q93.5 OMIM:609625 UMLS:C4305277 DOID:0060390 SCTID:718687003 GARD:0003711 MESH:C567182 Orphanet:96148" +MONDO:0015435 "Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported." "SCTID:765484001 MESH:C538310 ICD10CM:Q93.2 GARD:0001333 Orphanet:1443 UMLS:CN036553" MONDO:0023692 "A maple syrup urine disease caused by mutations in BCKDHB." "OMIM:248600 GARD:0008597" UBERON:0001422 ENVO:01001785 "A surface layer of an astronomical body which is primarily composed of solid material and is not covered by oceans or other bodies of water." @@ -4365,10 +4363,10 @@ MONDO:0008517 "MESH:C566091 OMIM:186350 UMLS:C1861347 GARD:0005090 Orphanet:325 UBERON:0004184 MONDO:0010964 "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene." "Orphanet:166002 OMIM:600969 MESH:C535503 GARD:0009792 UMLS:C1832998 DOID:0070304" CHEBI:26537 "Oxygenated derivatives of 3,7-dimethyl-1-(2,6,6-trimethylcyclohex-1-enyl)nona-1,3,5,7-tetraene and derivatives thereof." -MONDO:0007286 "A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13." "ICD10:Q12.0 DOID:0110248 Orphanet:91492 MESH:C566157 Orphanet:98984 UMLS:C3805411 OMIM:116300" +MONDO:0007286 "A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13." "DOID:0110248 Orphanet:91492 MESH:C566157 Orphanet:98984 UMLS:C3805411 OMIM:116300" MONDO:0018348 UBERON:0000486 -MONDO:0016899 "Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." "Orphanet:262 UMLS:CN227033 ICD10:G71.0" +MONDO:0016899 "Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." "Orphanet:262 UMLS:CN227033 ICD10CM:G71.0" MONDO:0035009 "Orphanet:583861" MONDO:0004528 "A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading." "UMLS:C1335295 NCIT:C6584 DOID:8304" MONDO:0023290 "GARD:0002567" @@ -4377,34 +4375,34 @@ MONDO:0021994 "GARD:0005109 MESH:C535432 UMLS:C2930899" HsapDv:0000082 "Immature stage that refers to a newborn who is under 32 days old." MONDO:0000277 MONDO:0003953 "A choriocarcinoma that arises from the central nervous system and occurs during childhood." "DOID:6639 NCIT:C6206 UMLS:C1377604" -MONDO:0016516 "A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia." "NCIT:C130991 ICD10:Q87.1 MESH:C537020 OMIM:244460 ICD9:759.89 OMIM:127000 SCTID:82837002 UMLS:C0265291 Orphanet:2333 OMIMPS:127000" +MONDO:0016516 "A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia." "NCIT:C130991 MESH:C537020 OMIM:244460 ICD9:759.89 OMIM:127000 SCTID:82837002 UMLS:C0265291 Orphanet:2333 OMIMPS:127000 ICD10CM:Q87.1" GO:1990837 "Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding." -MONDO:0003038 "Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994)" "HP:0010526 DOID:4540 ICD10:R48.8" +MONDO:0003038 "Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994)" "HP:0010526 DOID:4540" CHEBI:24527 "A substance used to destroy plant pests." -MONDO:0012257 "UMLS:C1836287 ICD10:Q87.8 MESH:C563731 OMIM:609345 Orphanet:1396" +MONDO:0012257 "UMLS:C1836287 ICD10CM:Q87.8 MESH:C563731 OMIM:609345 Orphanet:1396" MONDO:0000011 UBERON:0010059 PO:0025233 "A portion of plant tissue (PO:0009007) that is part of a plant embryo (PO:0009009)." "PO_GIT:338" MONDO:0018404 "OBSOLETE. Rare genetic male infertility." "UMLS:CN227349 Orphanet:399980" -MONDO:0019921 "Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia." "ICD10:Q99.8 Orphanet:96191" +MONDO:0019921 "Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia." "ICD10CM:Q99.8 Orphanet:96191" FOODON:03420295 "The part of a flowering plant that typically contains the embryo with its protective coat and stored food and that can develop into a new plant under the proper conditions; fertilised and mature ovule (Source: Webster's). Seeds and fruits commonly called seeds include: grain, kernel, berry, ear, corn, nut. (Source: Webster's Thesaurus)."@en MONDO:0020798 "OMIM:618883" -MONDO:0008207 "Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." "MESH:D046789 DOID:13357 SCTID:36071006 UMLS:C0008475 Orphanet:1428 ICD10:M22.4 OMIM:168900 ICD9:717.7" -MONDO:0009350 "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects." "UMLS:C1856095 Orphanet:2167 ICD10:Q87.8 MESH:C535327 OMIM:236110 DOID:0060566 GARD:0002728" -MONDO:0011291 "A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3)." "NCIT:C126869 GARD:0009829 SCTID:709412006 ICD10:E77.8 UMLS:C2930997 MESH:C535741 OMIM:603147 Orphanet:79320 DOID:0080555" -MONDO:0001119 "Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive." "ICD9:256.39 NCIT:C80099 UMLS:C0025322 SCTID:237788002 MESH:D008594 ICD10:E28.319 ICD10:E28.31 DOID:10787 ICD9:256.31" +MONDO:0008207 "Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." "MESH:D046789 DOID:13357 SCTID:36071006 ICD10CM:M22.4 UMLS:C0008475 Orphanet:1428 OMIM:168900 ICD9:717.7" +MONDO:0009350 "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects." "UMLS:C1856095 ICD10CM:Q87.8 Orphanet:2167 MESH:C535327 OMIM:236110 DOID:0060566 GARD:0002728" +MONDO:0011291 "A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3)." "NCIT:C126869 GARD:0009829 SCTID:709412006 UMLS:C2930997 MESH:C535741 OMIM:603147 Orphanet:79320 DOID:0080555 ICD10CM:E77.8" +MONDO:0001119 "Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive." "ICD9:256.39 NCIT:C80099 UMLS:C0025322 SCTID:237788002 MESH:D008594 DOID:10787 ICD9:256.31" UBERON:2002068 MONDO:0003871 CHEBI:76969 "Any prokaryotic metabolite produced during a metabolic reaction in bacteria." UBERON:0000487 -MONDO:0019415 "Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids." "GARD:0002295 ICD10:P61.0 Orphanet:853 SCTID:240305000" -MONDO:0007477 "3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." "OMIM:614205 ICD10:Q87.1 DOID:0060241 MESH:C535314 SCTID:702342007 GARD:0005667 OMIM:612921 OMIMPS:273750 ICD9:756.59 OMIM:273750 Orphanet:2616" -MONDO:0013456 "SCTID:124178006 MESH:C565095 OMIM:613839 ICD10:D52.8 GARD:0011000 Orphanet:319651" +MONDO:0019415 "Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids." "GARD:0002295 Orphanet:853 SCTID:240305000 ICD10CM:P61.0" +MONDO:0007477 "3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." "OMIM:614205 DOID:0060241 ICD10CM:Q87.1 MESH:C535314 SCTID:702342007 GARD:0005667 OMIM:612921 OMIMPS:273750 ICD9:756.59 OMIM:273750 Orphanet:2616" +MONDO:0013456 "SCTID:124178006 MESH:C565095 OMIM:613839 ICD10CM:D52.8 GARD:0011000 Orphanet:319651" GO:0060986 "The regulated release of a hormone into the circulatory system." -MONDO:0019544 "Orphanet:90068 ICD10:T40.5 ICD9:292.89 SCTID:27956007" +MONDO:0019544 "Orphanet:90068 ICD9:292.89 SCTID:27956007" http://identifiers.org/hgnc/12872 MONDO:0002673 -MONDO:0011430 "A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33." "OMIM:116300 UMLS:CN207240 Orphanet:98986 ICD10:Q12.0 UMLS:C1833118 MESH:C565133 Orphanet:98984 Orphanet:98995 Orphanet:91492" +MONDO:0011430 "A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33." "OMIM:116300 UMLS:CN207240 Orphanet:98986 UMLS:C1833118 MESH:C565133 Orphanet:98984 ICD10CM:Q12.0 Orphanet:98995 Orphanet:91492" MONDO:0000010 GO:0006910 "The initial step in phagocytosis involving adhesion to bacteria, immune complexes and other particulate matter, or an apoptotic cell and based on recognition of factors such as bacterial cell wall components, opsonins like complement and antibody or protein receptors and lipids like phosphatidyl serine, and leading to intracellular signaling in the phagocytosing cell." HP:0001732 "An abnormality of the pancreas." "UMLS:C0030286 SNOMEDCT_US:3855007 MSH:D010182 UMLS:C4025751" @@ -4412,7 +4410,7 @@ GO:0065008 "Any process that modulates a qualitative or quantitative trait of a MONDO:0014655 MONDO:0004346 "An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells." "DOID:7733 NCIT:C41619 UMLS:C1519321" PATO:0001671 "A distribution which is relatively high." -MONDO:0018346 "Orphanet:397922 UMLS:CN226080 ICD10:G23.0" +MONDO:0018346 "Orphanet:397922 ICD10CM:G23.0 UMLS:CN226080" MONDO:0100213 "An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome." "Orphanet:85284 UMLS:C1839988 GARD:0002952 Orphanet:2273 OMIM:308205 MESH:C536085" MONDO:0100379 "Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)" "NCIT:C168759" NCBITaxon:740973 "GC_ID:1" @@ -4420,8 +4418,8 @@ UBERON:0000484 MONDO:0009708 "UMLS:C1850709 DOID:0111268 Orphanet:53698 OMIM:255160 MESH:C564970" UBERON:2002067 UBERON:0009917 -MONDO:0019348 "OBSOLETE. Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva." "UMLS:C4303790 Orphanet:82004 SCTID:720857006 ICD10:Q79.6" -MONDO:0001473 "ICD10:E27.5 SCTID:111565003 ICD9:255.6 UMLS:C0154206 DOID:12257" +MONDO:0019348 "OBSOLETE. Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva." "UMLS:C4303790 Orphanet:82004 OMIM:300537 SCTID:720857006 ICD10CM:Q79.6" +MONDO:0001473 "SCTID:111565003 ICD9:255.6 UMLS:C0154206 DOID:12257" MONDO:0021662 "A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma." "UMLS:C0005396 NCIT:C2898" GO:0004177 "Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain." NCBITaxon:424551 "GC_ID:1" @@ -4431,32 +4429,32 @@ UBERON:0001685 UBERON:0004180 MONDO:0020534 CL:0002194 "A cell involved in the formation of a monocyte (monopoiesis)." "FMA:83552" -MONDO:0018347 "UMLS:CN226082 Orphanet:397933 ICD10:Q87.8" -MONDO:0012605 "Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene." "Orphanet:251279 UMLS:C1970236 MESH:C567024 OMIM:611040 ICD10:Q15.8 DOID:0060837" +MONDO:0018347 "ICD10CM:Q87.8 UMLS:CN226082 Orphanet:397933" +MONDO:0012605 "Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene." "Orphanet:251279 ICD10CM:Q15.8 UMLS:C1970236 MESH:C567024 OMIM:611040 DOID:0060837" NCBITaxon:121229 "GC_ID:1" MONDO:0010256 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene." "OMIM:300143" UBERON:0000485 NCBITaxon:740972 "PMID:20093080 GC_ID:1" MONDO:0009707 "OMIM:255140 UMLS:C1850717 MESH:C564971" CHEBI:57652 "Anionic form of chondroitin D-glucuronate arising from deprotonation of the carboxylic acid groups of the repeating units; major species at pH 7.3." -MONDO:0002109 "A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract." "SCTID:127024001 UMLS:C0032019 NCIT:C4769 EFO:0005578 SCTID:363482009 NCIT:C3330 GARD:0009371 DOID:1785 UMLS:C0496842 ICD10:C75.1" -MONDO:0014653 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene." "ICD10:H35.5 OMIM:616469 DOID:0110395 UMLS:C4225315" +MONDO:0002109 "A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract." "SCTID:127024001 UMLS:C0032019 NCIT:C4769 EFO:0005578 SCTID:363482009 NCIT:C3330 GARD:0009371 DOID:1785 UMLS:C0496842" +MONDO:0014653 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene." "OMIM:616469 DOID:0110395 UMLS:C4225315" GO:0051222 "Any process that activates or increases the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." -MONDO:0007093 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene." "ICD10:K00.5 OMIM:104510 UMLS:C1863012 Orphanet:100034 DOID:0110053 MESH:C566293" -MONDO:0012130 "Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene." "DOID:0080093 OMIM:608810 UMLS:C1837317 Orphanet:98910 MESH:C563848 ICD10:G71.0 Orphanet:399058" +MONDO:0007093 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene." "OMIM:104510 UMLS:C1863012 ICD10CM:K00.5 Orphanet:100034 DOID:0110053 MESH:C566293" +MONDO:0012130 "Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene." "DOID:0080093 OMIM:608810 ICD10CM:G71.0 UMLS:C1837317 Orphanet:98910 MESH:C563848 Orphanet:399058" CL:0000099 "Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions." "WBbt:0005113 FMA:67313 FBbt:00005125 BTO:0003811" -MONDO:0012296 "Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome." "UMLS:C1836022 Orphanet:268835 OMIM:609537 SCTID:104431000119107 MESH:C537030 GARD:0010053 ICD9:214.8 ICD10:Q05.9" +MONDO:0012296 "Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome." "UMLS:C1836022 Orphanet:268835 OMIM:609537 SCTID:104431000119107 MESH:C537030 GARD:0010053 ICD10CM:Q05.9 ICD9:214.8" MONDO:0024516 "An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome." "OMIMPS:142690" UBERON:0009919 -MONDO:0013458 "ICD10:N15.8 OMIM:613845 Orphanet:363694 UMLS:C3151209" +MONDO:0013458 "OMIM:613845 ICD10CM:N15.8 Orphanet:363694 UMLS:C3151209" MONDO:0019546 "UMLS:CN206373 Orphanet:90077" -MONDO:0007626 "An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome." "UMLS:C1850996 ICD10:H49.1 MESH:C565007 GARD:0010355 OMIM:136480 Orphanet:91498" +MONDO:0007626 "An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome." "UMLS:C1850996 MESH:C565007 GARD:0010355 ICD10CM:H49.1 OMIM:136480 Orphanet:91498" HP:0032016 "Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin." MONDO:0003769 "Gastritis resulting from herpes virus." "UMLS:C1333996 DOID:6102 NCIT:C27341" UBERON:0001684 MONDO:0000274 GO:0002652 "Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response." -MONDO:0018344 "UMLS:CN226077 Orphanet:397755 ICD10:G72.3" +MONDO:0018344 "ICD10CM:G72.3 UMLS:CN226077 Orphanet:397755" MONDO:0022930 "MESH:C538340 UMLS:C2931823 GARD:0000137" http://identifiers.org/hgnc/31928 SO:1000029 "An incomplete chromosome." @@ -4464,18 +4462,18 @@ MONDO:0044742 "Orphanet:512103" MONDO:0020793 "OMIM:164310" MONDO:0002667 "An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells." "DOID:3499 UMLS:C1333758 NCIT:C5745" NCIT:C35920 -MONDO:0015405 "A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region." "ICD10:Q28.2 UMLS:C3839265 Orphanet:141189 SCTID:703266007 UMLS:CN199500" +MONDO:0015405 "A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region." "ICD10CM:Q28.2 UMLS:C3839265 Orphanet:141189 SCTID:703266007 UMLS:CN199500" CHEBI:33958 -MONDO:0019541 "ICD10:H30.1 ICD10:H30.0 Orphanet:90061" -MONDO:0010016 "Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene." "ICD10:M85.2 UMLS:CN032489 Orphanet:3152 UMLS:C0265301 OMIM:269500 DOID:0060756" -MONDO:0017146 "ICD10:D57.8 Orphanet:275752 ICD10:D57.2 ICD10:D57.3 UMLS:CN202572 ICD10:D57.0 ICD10:D57.1" -MONDO:0004382 "A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma." "MESH:D007818 NCIT:C26810 ICD9:478.70 ICD10:S12.8 DOID:786 UMLS:C0023051 SCTID:60600009 ICD10:J38.7" +MONDO:0019541 "ICD10CM:H30.1 ICD10CM:H30.0 Orphanet:90061" +MONDO:0010016 "Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene." "UMLS:CN032489 Orphanet:3152 UMLS:C0265301 OMIM:269500 DOID:0060756" +MONDO:0017146 "ICD10CM:D57.1 Orphanet:275752 ICD10CM:D57.2 ICD10CM:D57.8 ICD10CM:D57.3 ICD10CM:D57.0 UMLS:CN202572" +MONDO:0004382 "A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma." "MESH:D007818 NCIT:C26810 ICD9:478.70 ICD10CM:J38.7 DOID:786 UMLS:C0023051 SCTID:60600009" MONDO:0021310 "A cancer that involves the neck." "NCIT:C4940 UMLS:C0746787 SCTID:363489000" GO:0015031 "The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." MONDO:0013173 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene." "OMIM:613192 MESH:C567714 UMLS:C2750791" MONDO:0000273 "DOID:0050174" MONDO:0012627 "An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene." "MESH:C567002 Orphanet:64280 OMIM:611136 DOID:0111314 Orphanet:307" -MONDO:0005508 "A bone neoplasm characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones." "SCTID:716742001 GARD:0007035 OMIM:600209 ICD10:Q78.6 Orphanet:321 UMLS:C0206641 OMIM:133700 SCTID:254044004 DOID:206 OMIM:133701 UMLS:CN204014 NCIT:C5183 MESH:D005097 EFO:0005560" +MONDO:0005508 "A bone neoplasm characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones." "SCTID:716742001 GARD:0007035 OMIM:600209 Orphanet:321 UMLS:C0206641 OMIM:133700 SCTID:254044004 DOID:206 OMIM:133701 UMLS:CN204014 NCIT:C5183 MESH:D005097 EFO:0005560" MONDO:0004308 "A rare sarcoma arising from the meninges." "NCIT:C4073 UMLS:C0302327 DOID:7614" MONDO:0006311 "A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation." "ONCOTREE:MDS%2FMPN NCIT:C27262 ICDO:9975/3 DOID:4972 SCTID:445738007 EFO:1000388" CL:0002333 "A fat cell derived from a neural crest cell." @@ -4484,55 +4482,55 @@ http://identifiers.org/hgnc/11411 NCIT:C36285 HP:0010541 "The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction." "UMLS:C4072877 SNOMEDCT_US:51603000 UMLS:C0263417 UMLS:C4280378" UBERON:0000483 -MONDO:0013141 "Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene." "UMLS:C2751259 MESH:C567747 DOID:0090102 ICD10:D69.4 OMIM:613112 Orphanet:140957" +MONDO:0013141 "Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene." "UMLS:C2751259 MESH:C567747 DOID:0090102 OMIM:613112 Orphanet:140957" ENVO:00000097 "A region rendered barren or partially barren by environmental extremes, especially by low rainfall." MONDO:0000945 "Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle." "MESH:D014689 SCTID:20696009 ICD9:459.81 UMLS:C0042485 DOID:10128 HP:0005293" -MONDO:0019540 "UMLS:CN206369 Orphanet:90060 ICD10:J98.4 HP:0025420" -MONDO:0009198 "A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992." "MESH:C535513 GARD:0002192 OMIM:227090 ICD10:Q82.8 SCTID:722391005 Orphanet:1954" +MONDO:0019540 "ICD10CM:J98.4 UMLS:CN206369 Orphanet:90060 HP:0025420" +MONDO:0009198 "A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992." "MESH:C535513 GARD:0002192 OMIM:227090 SCTID:722391005 Orphanet:1954 ICD10CM:Q82.8" HP:0000142 "Any structural abnormality of the vagina." "UMLS:C1856023" MONDO:0000272 MONDO:0020795 "OMIM:618908" MONDO:0021923 "A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder." "GARD:0000771 MESH:C537439 UMLS:C2931494" MONDO:0024490 MONDO:0044328 "Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330)." "OMIM:617925 UMLS:CN902090" -MONDO:0015849 "Orphanet:180157 ICD10:Q52.1 HP:0008740" +MONDO:0015849 "ICD10CM:Q52.1 HP:0008740 Orphanet:180157" UBERON:0022292 MONDO:0100085 "A cancer that involves the upper limb long bone." MONDO:0010583 "X-linked form of Dyggve-Melchior-Clausen disease." "UMLS:C1844654 Orphanet:239 OMIM:304950" -MONDO:0008682 "Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma." "MedDRA:10070179 SCTID:236385009 DOID:3764 MESH:D030321 ICD10:N04.1 GARD:0005576 UMLS:C0950121 UMLS:C3151568 NCIT:C84668 Orphanet:220 OMIM:194080 ICD9:189.0" -MONDO:0005280 "An infectious or non-infectious inflammatory process affecting the prostate gland." "ICD9:601.9 MESH:D011472 EFO:0003830 NCIT:C26866 SCTID:9713002 ICD10:N41 UMLS:C0033581 ICD9:601 ICD10:N41.9 HP:0000024 DOID:14654 ICD9:601.8 ICD9:601.4" -MONDO:0017144 "ICD10:D56.0 UMLS:CN202570 Orphanet:275745" +MONDO:0008682 "Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma." "MedDRA:10070179 SCTID:236385009 DOID:3764 MESH:D030321 GARD:0005576 UMLS:C0950121 UMLS:C3151568 NCIT:C84668 ICD10CM:N04.1 Orphanet:220 OMIM:194080 ICD9:189.0" +MONDO:0005280 "An infectious or non-infectious inflammatory process affecting the prostate gland." "ICD9:601.9 MESH:D011472 EFO:0003830 NCIT:C26866 SCTID:9713002 UMLS:C0033581 ICD9:601 HP:0000024 DOID:14654 ICD9:601.8 ICD9:601.4" +MONDO:0017144 "ICD10CM:D56.0 UMLS:CN202570 Orphanet:275745" MONDO:0025691 "OMIM:619291" -MONDO:0015469 "Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." "SCTID:57219006 OMIM:600593 OMIM:182212 MedDRA:10049889 MESH:D003398 DOID:2340 OMIM:604757 GARD:0006209 MedDRA:10048907 OMIM:600775 ICD10:Q75.0 UMLS:C0010278 Orphanet:1531 OMIM:123100 OMIM:615314 OMIMPS:123100 OMIM:615529 NCIT:C84655" -MONDO:0015848 "Orphanet:180154 ICD9:752.49 ICD10:Q52.1 HP:0001153 SCTID:47054003" +MONDO:0015469 "Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome." "MedDRA:10048907 OMIM:600775 SCTID:57219006 OMIM:615314 MedDRA:10049889 OMIMPS:123100 OMIM:604757 OMIM:615529 UMLS:C0010278 DOID:2340 OMIM:600593 NCIT:C84655 GARD:0006209 OMIM:182212 MESH:D003398 ICD10CM:Q75.0 Orphanet:1531 OMIM:123100" +MONDO:0015848 "Orphanet:180154 ICD10CM:Q52.1 ICD9:752.49 HP:0001153 SCTID:47054003" MONDO:0003273 "A malignant neoplasm involving the sternum" "UMLS:C1382025 DOID:5090 SCTID:126559003 NCIT:C8408 NCIT:C6730 UMLS:C1290244" http://identifiers.org/hgnc/12873 GO:0005737 "The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures." MONDO:0017813 "Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia." "OMIM:601390 OMIM:615546 Orphanet:314679 GARD:0005456 DOID:0060238 OMIMPS:601390 UMLS:CN203783" HP:0030669 "A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva." "UMLS:C4073120" MONDO:0013872 "Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene." "OMIM:614731 UMLS:C3539120" -MONDO:0008898 "Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." "OMIM:211910 UMLS:C1859359 ICD10:Q87.1 MESH:C537970 GARD:0001067 Orphanet:1327 SCTID:720602007" +MONDO:0008898 "Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." "OMIM:211910 UMLS:C1859359 MESH:C537970 GARD:0001067 Orphanet:1327 ICD10CM:Q87.1 SCTID:720602007" MONDO:0030604 "A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative." "ICDO:8959/3 ICDO:8959/1 NCIT:C6897 UMLS:C1266139 DOID:7571" -MONDO:0007888 "Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." "GARD:0003218 UMLS:CN239164 Orphanet:523 MESH:C535516 ICD10:C64 GARD:0010096 NCIT:C51302 UMLS:C1708350 OMIM:150800 UMLS:CN073087" -MONDO:0018343 "ICD10:G72.3 Orphanet:397750" +MONDO:0007888 "Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." "ICD10CM:C64 GARD:0003218 UMLS:CN239164 Orphanet:523 MESH:C535516 GARD:0010096 NCIT:C51302 UMLS:C1708350 OMIM:150800 UMLS:CN073087" +MONDO:0018343 "ICD10CM:G72.3 Orphanet:397750" MONDO:0022094 "GARD:0001132 UMLS:C2931062 MESH:C535917" MONDO:0020796 "OMIM:180860" UBERON:0039168 BFO:0000004 "b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])"@en BFO:0000004 "b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])" -MONDO:0015773 "Fibular dimelia-diplopodia syndrome is a rare developmental anomaly." "SCTID:720953006 ICD10:Q74.8 Orphanet:1757 UMLS:CN200350" +MONDO:0015773 "Fibular dimelia-diplopodia syndrome is a rare developmental anomaly." "ICD10CM:Q74.8 SCTID:720953006 Orphanet:1757 UMLS:CN200350" UBERON:0000481 -MONDO:0003233 "A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)" "DOID:4990 EFO:0003108 SCTID:609558009 Orphanet:862 UMLS:C0270736 OMIMPS:190300 OMIM:602134 MESH:D020329 OMIM:190300 ICD10:G25.0 OMIM:614782 ICD9:333.1 OMIM:611456" +MONDO:0003233 "A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)" "DOID:4990 ICD10CM:G25.0 EFO:0003108 SCTID:609558009 Orphanet:862 UMLS:C0270736 OMIMPS:190300 OMIM:602134 MESH:D020329 OMIM:190300 OMIM:614782 ICD9:333.1 OMIM:611456" HP:0010987 "An abnormality of the morphology or counts of the cells that make up the immune system." "UMLS:C4023612" -MONDO:0009205 "Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." "MESH:C536388 UMLS:C0795936 ICD10:Q87.8 SCTID:723333000 GARD:0002230 Orphanet:1973 OMIM:227280" +MONDO:0009205 "Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." "ICD10CM:Q87.8 MESH:C536388 UMLS:C0795936 SCTID:723333000 GARD:0002230 Orphanet:1973 OMIM:227280" MONDO:0021427 "A squamous cell carcinoma that involves the lip." "NCIT:C4042 Orphanet:502366 UMLS:C0280302 SCTID:255071008 OMIM:275355" MONDO:0035008 "Orphanet:583856" UBERON:0022293 MONDO:0024985 "Diseases of domestic and mountain sheep of the genus Ovis." "MESH:D012757 UMLS:C0036946" -MONDO:0010761 "Y-linked form of retinitis pigmentosa." "OMIM:400004 ICD10:H35.5 Orphanet:791 MESH:C564035 DOID:0110418 UMLS:C1839079" -MONDO:0017145 "ICD10:D56.1 Orphanet:275749 UMLS:CN202571" +MONDO:0010761 "Y-linked form of retinitis pigmentosa." "OMIM:400004 Orphanet:791 MESH:C564035 DOID:0110418 UMLS:C1839079" +MONDO:0017145 "Orphanet:275749 ICD10CM:D56.1 UMLS:CN202571" ENVO:01001227 "A natural environment which is within a water body." -MONDO:0019423 "X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked." "ICD10:Q87.8 UMLS:CN206179 Orphanet:85326 SCTID:718911005" +MONDO:0019423 "X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked." "UMLS:CN206179 Orphanet:85326 ICD10CM:Q87.8 SCTID:718911005" MONDO:0015847 "Orphanet:180151 UMLS:CN226752" MONDO:0025690 "OMIM:619278" http://identifiers.org/hgnc/12874 @@ -4545,20 +4543,20 @@ MONDO:0011052 "GARD:0000388 OMIM:601357 UMLS:C1832434 MESH:C536713 GARD:0000641 http://identifiers.org/hgnc/18704 UBERON:0022298 http://identifiers.org/hgnc/26144 -MONDO:0017569 "A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." "PMID:18388779 DOID:0070143 OMIM:614438 GARD:0000049 OMIM:219150 SCTID:59252009 GARD:49 MESH:C535990 SCTID:238826008 Orphanet:2962 ICD10:Q87.8" +MONDO:0017569 "A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." "MESH:C535990 SCTID:59252009 OMIM:614438 OMIM:219150 GARD:0000049 GARD:49 PMID:18388779 ICD10CM:Q87.8 DOID:0070143 SCTID:238826008 Orphanet:2962" UBERON:0009911 NCBITaxon:121224 "PMID:18434207 GC_ID:1 PMID:23049889" MONDO:0006371 MONDO:0003275 "A malignant neoplasm involving the middle ear" "NCIT:C4765 NCIT:C4412 DOID:5099 SCTID:127006003 SCTID:363359008" -MONDO:0008504 "SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis." "HP:0004381 ICD10:Q25.3 MedDRA:10042598 UMLS:C0003499 NCIT:C85176 Orphanet:3193 GARD:0000743 DOID:1929 SCTID:268185002 OMIM:185500" +MONDO:0008504 "SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis." "HP:0004381 MedDRA:10042598 UMLS:C0003499 ICD10CM:Q25.3 NCIT:C85176 Orphanet:3193 GARD:0000743 DOID:1929 SCTID:268185002 OMIM:185500" MONDO:0000019 GO:1901616 "The chemical reactions and pathways resulting in the breakdown of organic hydroxy compound." -MONDO:0017202 "Acute form of endophthalmitis." "DOID:11752 MedDRA:10000730 ICD9:360.01 SCTID:1493002 Orphanet:279888 ICD10:H44.0 ICD10:H44.1 UMLS:C0154773" +MONDO:0017202 "Acute form of endophthalmitis." "DOID:11752 MedDRA:10000730 ICD9:360.01 SCTID:1493002 Orphanet:279888 ICD10CM:H44.0 ICD10CM:H44.1 UMLS:C0154773" UBERON:0008713 GO:0032224 "Any process that activates, maintains or increases the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine." HP:0001876 "An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets)." "MSH:D010198 UMLS:C0030312 SNOMEDCT_US:127034005" MONDO:0024954 "A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati." "MESH:D007816" -MONDO:0012920 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25." "ICD10:E10 OMIM:612521 DOID:0110758 UMLS:C2675865 MESH:C567285" +MONDO:0012920 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25." "OMIM:612521 DOID:0110758 UMLS:C2675865 MESH:C567285" MONDO:0002622 "A primary bone osteosarcoma affecting multiple bone sites." "NCIT:C6470 UMLS:C1334820 DOID:3360" MONDO:0003613 http://identifiers.org/hgnc/31923 @@ -4571,35 +4569,35 @@ MONDO:0020790 "OMIM:607313" http://identifiers.org/hgnc/4415 MONDO:0022851 "A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder." "GARD:0000290 MESH:C538210 Orphanet:2109 OMIM:234100" MONDO:0024614 "A term used for any state of depression that is not psychotic." "NCIT:C35369" -MONDO:0012275 "Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication)." "Orphanet:1906 SCTID:17231009 GARD:0005447 ICD10:Q86.8 NCIT:C98930 MedDRA:10016524 MESH:C536525 OMIM:609442 UMLS:C0236026 ICD9:759.89 DOID:0060471" -MONDO:0009425 "Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis." "ICD10:Q75.4 OMIM:241310 Orphanet:1790 GARD:0002907 SCTID:721845005 MESH:C537154" +MONDO:0012275 "Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication)." "Orphanet:1906 SCTID:17231009 GARD:0005447 NCIT:C98930 MedDRA:10016524 MESH:C536525 OMIM:609442 UMLS:C0236026 ICD10CM:Q86.8 ICD9:759.89 DOID:0060471" +MONDO:0009425 "Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis." "ICD10CM:Q75.4 OMIM:241310 Orphanet:1790 GARD:0002907 SCTID:721845005 MESH:C537154" HP:0002793 "An anomaly of the rhythm or depth of breathing." "UMLS:C1837388" http://identifiers.org/hgnc/7173 CL:2000087 "Any basket cell that is part of a dentate gyrus of hippocampal formation." MONDO:0000018 MONDO:0006267 "A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." "UMLS:C3282904 EFO:1000322 NCIT:C96839" -MONDO:0018626 "A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi." "ICD10:A01.3 Orphanet:443227 ICD9:002.1 NCIT:C34897 UMLS:C0343377 UMLS:C0343376 ICD10:A01.2 ICD9:002.3 EFO:0007420 ICD10:A01.1 UMLS:C0343375 MESH:D010284 ICD9:002.2 SCTID:51254007 UMLS:C0030528 ICD9:002.9 ICD10:A01.4 DOID:3055" +MONDO:0018626 "A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi." "Orphanet:443227 ICD10CM:A01.2 ICD9:002.1 NCIT:C34897 ICD10CM:A01.1 UMLS:C0343377 UMLS:C0343376 ICD10CM:A01.4 ICD9:002.3 EFO:0007420 UMLS:C0343375 MESH:D010284 ICD9:002.2 SCTID:51254007 ICD10CM:A01.3 UMLS:C0030528 ICD9:002.9 DOID:3055" http://identifiers.org/hgnc/3219 -MONDO:0013291 "Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." "DOID:0050579 OMIM:613507 UMLS:C3150754 ICD10:E74.0 Orphanet:263297 SCTID:717821004" +MONDO:0013291 "Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." "ICD10CM:E74.0 DOID:0050579 OMIM:613507 UMLS:C3150754 Orphanet:263297 SCTID:717821004" MONDO:0010956 "OMIM:600907 MESH:C563430 UMLS:C1833163 GARD:0004801" -MONDO:0002715 "Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix." "ICD9:179 SCTID:371973000 NCIT:C3552 SCTID:126908007 MESH:D014594 NCIT:C3435 ICD10:C55 DOID:363" +MONDO:0002715 "Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix." "ICD9:179 SCTID:371973000 NCIT:C3552 SCTID:126908007 MESH:D014594 NCIT:C3435 DOID:363" MONDO:0020791 "OMIM:122100" UBERON:0022296 GO:2000064 "Any process that modulates the frequency, rate or extent of cortisol biosynthetic process." GO:0001667 "Cell migration that is accomplished by extension and retraction of a pseudopodium." MONDO:0018086 "Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection." "GARD:0005395 OMIM:604093 Orphanet:3406" NCBITaxon:121222 "GC_ID:1" -MONDO:0007377 "Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." "SCTID:419039007 MESH:C537304 GARD:0009677 Orphanet:98962 DOID:0080530 OMIM:121900 UMLS:C1641846 ICD10:H18.5" +MONDO:0007377 "Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." "ICD10CM:H18.5 SCTID:419039007 MESH:C537304 GARD:0009677 Orphanet:98962 DOID:0080530 OMIM:121900 UMLS:C1641846" http://identifiers.org/hgnc/4416 MONDO:0000017 -MONDO:0004811 "ICD10:H10.42 SCTID:8211008 ICD9:372.11 DOID:9512 UMLS:C0155146" +MONDO:0004811 "SCTID:8211008 ICD9:372.11 DOID:9512 UMLS:C0155146" CL:0002370 "A simple columnar epithelial cell that secretes mucin. Rough endoplasmic reticulum, mitochondria, the nucleus, and other organelles are concentrated in the basal portion. The apical plasma membrane projects microvilli to increase surface area for secretion." MONDO:0008095 "A capillary vascular anomaly that is characterized by hypopigmented macules." "NCIT:C3943 HP:0025105 SCTID:40929003 OMIM:163050 ICD9:709.09" MONDO:0025513 "An autoimmune form of urticaria (disease)." "UMLS:C1304191 SCTID:402397006 ICD9:708.8" PO:0025029 "A plant axis (PO:0025004) that is part of a shoot system (PO:0009006)." MONDO:0021348 "A neoplasm (disease) that involves the testis." "NCIT:C3404 SCTID:126900000 ICD9:239.5 EFO:0004281 ONCOTREE:TESTIS" http://identifiers.org/hgnc/3218 -MONDO:0015039 "Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." "Orphanet:100016 ICD10:Q04.3 SCTID:715822007 UMLS:C4274989 UMLS:CN228905" +MONDO:0015039 "Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum." "Orphanet:100016 SCTID:715822007 UMLS:C4274989 UMLS:CN228905 ICD10CM:Q04.3" MONDO:0006499 "A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern." "HP:0010566 NCIT:C3075 EFO:1000634 MESH:D006222 ICD9:759.6 SCTID:400006008 UMLS:C0018552" MONDO:0011716 "Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL." "MESH:D004684 DOID:10992 SCTID:72986009 OMIM:606752 UMLS:C0014077 GARD:0008629 EFO:0007132 ICD9:136.9 NCIT:C84535" MONDO:0045018 "A disease that has its basis in the disruption of creatine biosynthetic process." "SCTID:297226004 UMLS:C0574079" @@ -4612,14 +4610,14 @@ GO:0043471 "Any process that modulates the frequency, rate, or extent of the che MONDO:0006107 "A benign neoplasm arising from the thyroid gland." "UMLS:C0154038 ICD9:226 EFO:1000122 SCTID:92439006 NCIT:C3628" GO:0001910 "Any process that modulates the frequency, rate, or extent of leukocyte mediated cytotoxicity." MONDO:0035004 "Orphanet:583595" -MONDO:0015589 "A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia." "NCIT:C4350 ICD9:323.81 Orphanet:163895 SCTID:445014002 ICD10:G13.1" +MONDO:0015589 "A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia." "NCIT:C4350 ICD9:323.81 Orphanet:163895 SCTID:445014002 ICD10CM:G13.1" NCBITaxon:121221 "GC_ID:1" -MONDO:0014044 "A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears." "Orphanet:289553 SCTID:763279007 OMIM:615102 UMLS:C3554774 ICD10:Q87.8" +MONDO:0014044 "A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears." "Orphanet:289553 ICD10CM:Q87.8 SCTID:763279007 OMIM:615102 UMLS:C3554774" MONDO:0012511 "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation." "DOID:0111144 OMIM:610504 SCTID:312974005 NCIT:C92862 MESH:C563032" -MONDO:0007880 "Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords." "Orphanet:2374 GARD:0002446 MESH:C537676 NCIT:C98970 MESH:C563636 ICD10:Q31.0 SCTID:444921008 OMIM:150360 MedDRA:10023871" +MONDO:0007880 "Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords." "Orphanet:2374 GARD:0002446 MESH:C537676 NCIT:C98970 MESH:C563636 SCTID:444921008 OMIM:150360 MedDRA:10023871" MONDO:0000016 MONDO:0002794 "A medulloblastoma arising from the brain, occurring in adults." "NCIT:C4011 DOID:3864 UMLS:C1332188 MESH:D008527 UMLS:C0278876" -MONDO:0012326 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene." "ICD10:H90.3 MESH:C566460 OMIM:609646 UMLS:C1864818 DOID:0110500" +MONDO:0012326 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene." "MESH:C566460 OMIM:609646 UMLS:C1864818 DOID:0110500" MONDO:0020603 "A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature." "DOID:0080352 Orphanet:35173 OMIM:302960 GARD:0006189" GO:0071745 "A protein complex composed of two identical immunoglobulin heavy chains of the IgA isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and sometimes complexed with J chain or J chain and secretory component. An IgA immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph." MONDO:0002977 "A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis." "UMLS:C0751871 NCIT:C99383 DOID:438 MESH:D020274 UMLS:C0751872" @@ -4629,14 +4627,14 @@ UBERON:0005117 MONDO:0014257 "Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene." "DOID:0080391 UMLS:C3809965 OMIM:615573 Orphanet:656" http://identifiers.org/hgnc/18708 NCBITaxon:121228 "GC_ID:1" -MONDO:0007470 "This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria." "SCTID:720598005 MESH:C565089 Orphanet:85192 ICD10:M85.8 UMLS:C1852022 OMIM:126550" -MONDO:0008770 "OMIM:204650 Orphanet:100031 DOID:0110056 ICD10:K00.5 MESH:C567147 UMLS:C2673923" +MONDO:0007470 "This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria." "SCTID:720598005 MESH:C565089 ICD10CM:M85.8 Orphanet:85192 UMLS:C1852022 OMIM:126550" +MONDO:0008770 "OMIM:204650 Orphanet:100031 DOID:0110056 MESH:C567147 UMLS:C2673923" MONDO:0011056 "Orphanet:654 UMLS:C1832426 MESH:C563336 OMIM:601363" http://identifiers.org/hgnc/4419 PATO:0000588 "A quality inhering in a bearer by virtue of the bearer's being a remnant structure from earlier development or evolution." -MONDO:0002410 "DOID:2743 UMLS:C0156254 SCTID:37779008 ICD9:590.3 ICD10:N28.85" +MONDO:0002410 "DOID:2743 ICD10CM:N28.85 UMLS:C0156254 SCTID:37779008 ICD9:590.3" MONDO:0005986 "Infections with viruses of the genus torovirus, family coronaviridae." "EFO:0007514 MESH:D018176 UMLS:C0206607" -MONDO:0016433 "Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait." "ICD10:Q87.8 UMLS:CN201392 Orphanet:2282" +MONDO:0016433 "Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait." "ICD10CM:Q87.8 UMLS:CN201392 Orphanet:2282" http://identifiers.org/hgnc/10472 MONDO:0004444 "A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern." "DOID:8050 NCIT:C39847 UMLS:C1511203" ENVO:01000248 "A dense settlement biome is an anthropogenic terrestrial biome which is primarily used for human habitation, recreation, and industry within built structures with little other land use." @@ -4647,13 +4645,13 @@ MONDO:0033968 "Orphanet:529977" http://identifiers.org/hgnc/26147 MONDO:0010957 "UMLS:C1833162 OMIM:600908" http://identifiers.org/hgnc/22448 -MONDO:0002036 "A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma." "ICD9:607.9 DOID:1529 NCIT:C26846 MESH:D010409 ICD10:N48.89 SCTID:33958003 ICD10:N48.8 UMLS:C0030846 ICD9:607.8 ICD9:607.89" +MONDO:0002036 "A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma." "ICD9:607.9 DOID:1529 NCIT:C26846 MESH:D010409 SCTID:33958003 UMLS:C0030846 ICD9:607.8 ICD9:607.89" NCBITaxon:121227 "GC_ID:1" -MONDO:0001869 "A malignant neoplasm involving the paraurethral gland." "ICD10:C68.1 UMLS:C0153621 SCTID:363460002 DOID:14059 ICD9:189.4" +MONDO:0001869 "A malignant neoplasm involving the paraurethral gland." "UMLS:C0153621 SCTID:363460002 DOID:14059 ICD9:189.4" UBERON:0009916 -MONDO:0012024 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene." "UMLS:C1842127 ICD10:H35.5 OMIM:608380 DOID:0110368 GARD:0010397 MESH:C564249" +MONDO:0012024 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene." "UMLS:C1842127 OMIM:608380 DOID:0110368 GARD:0010397 MESH:C564249" GO:0016614 "Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group act as a hydrogen or electron donor and reduces a hydrogen or electron acceptor." -MONDO:0014750 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene." "ICD10:Q34.8 OMIM:616726 DOID:0110619 UMLS:C4225230" +MONDO:0014750 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene." "OMIM:616726 DOID:0110619 UMLS:C4225230" ENVO:01000997 "An environmental system which is determined by materials bearing roughly homogeneous qualities." MONDO:0000014 MONDO:0010929 "Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene." "Orphanet:3267 Orphanet:35093 UMLS:C3806917 Orphanet:2343 OMIM:600775" @@ -4662,12 +4660,12 @@ HP:0001913 "An abnormally reduced number of granulocytes in the blood." "MSH:D00 MONDO:0015110 "An instance of cardiac rhythm disease that is caused by a modification of the individual's genome." "Orphanet:101934 UMLS:CN197467" CHEBI:84410 "A cationic sphingoid obtained by protonation of the amino group of any 2-amino-1,3-dihydroxysphingoid base." MONDO:0033967 "Orphanet:529974" -MONDO:0005620 "Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." "ICD10:E85.4+ Orphanet:85458 OMIM:105150 NCIT:C84625 OMIM:605714 EFO:0006790 ICD10:I68.0 DOID:9246 MESH:D016657 SCTID:230724001 SCTID:56453003 ICD9:277.39 OMIM:176500 ICD10:I68.0* GARD:0010266 OMIM:117300" +MONDO:0005620 "Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." "Orphanet:85458 OMIM:105150 NCIT:C84625 OMIM:605714 EFO:0006790 MESH:D016657 DOID:9246 ICD10EXP:E85.4+ SCTID:230724001 SCTID:56453003 ICD9:277.39 ICD10EXP:I68.0* OMIM:176500 ICD10CM:I68.0 GARD:0010266 OMIM:117300" GO:0003018 "A circulatory process that occurs at the level of the vasculature." MONDO:0011463 "A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination." "UMLS:C1858353 Orphanet:538096 MESH:C565773 OMIM:604431" MONDO:0001211 "ICD9:367.52 SCTID:86266009 UMLS:C0152197 DOID:11177" MONDO:0001477 -MONDO:0015177 "Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." "GARD:0003562 MESH:C537351 OMIM:602111 UMLS:C0432226 OMIM:613073 SCTID:254085009 ICD9:756.9 Orphanet:1040 ICD10:Q78.5" +MONDO:0015177 "Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." "GARD:0003562 ICD10CM:Q78.5 MESH:C537351 OMIM:602111 UMLS:C0432226 OMIM:613073 SCTID:254085009 OMIM:309645 ICD9:756.9 Orphanet:1040" UBERON:0009913 NCBITaxon:121226 "PMID:18434207 GC_ID:1 PMID:23049889" GO:0002675 "Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response." @@ -4685,14 +4683,14 @@ UBERON:0008715 UBERON:0014851 MONDO:0012255 "OMIM:609334 MESH:C563734 UMLS:C1836305" GO:0030187 "The chemical reactions and pathways resulting in the formation of melatonin (N-acetyl-5-methoxytryptamine)." -MONDO:0021461 "A benign neoplasm that involves the hypopharynx." "NCIT:C3596 SCTID:92139000 ICD9:210.8 ICD10:D10.7 UMLS:C0153939" +MONDO:0021461 "A benign neoplasm that involves the hypopharynx." "ICD10CM:D10.7 NCIT:C3596 SCTID:92139000 ICD9:210.8 UMLS:C0153939" MONDO:0021679 "Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method." "ICD9:041.89 MESH:D016908 SCTID:371582002" GO:1903131 "The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell." ENVO:01000797 "A material entity which is composed of one or more chemical entities and has neither independent shape nor volume but tends to expand indefinitely." CHEBI:58072 "Conjugate acid of carbon monoxide arising from protonation of the carbon; major species at pH 7.3." GO:0098642 "A collagen trimer that forms networks." NCBITaxon:121225 "PMID:23049889 GC_ID:1 PMID:18434207" -MONDO:0013452 "Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals." "Orphanet:404463 UMLS:C3151201 GARD:0012811 OMIM:613834 ICD10:I73.8" +MONDO:0013452 "Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals." "Orphanet:404463 UMLS:C3151201 GARD:0012811 ICD10CM:I73.8 OMIM:613834" GO:0015672 MONDO:0006370 UBERON:0009914 @@ -4704,7 +4702,7 @@ CHR:9606-chr22q11.2 MONDO:0003730 "A leukemia characterized by the absence of leukemic cells in the peripheral blood." "ICD9:208.80 UMLS:C0877858 NCIT:C4982 DOID:6004 DOID:12965 SCTID:302856006" MONDO:0043768 "Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors." "MESH:D011696 NCIT:C26870 SCTID:302873008 UMLS:C0857305" MONDO:0000251 "A diarrhea that results from either increased or decreased motility in the bowel." -MONDO:0014462 "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene." "DOID:0111133 OMIM:616032 ICD10:N04.1 UMLS:C4014993" +MONDO:0014462 "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene." "DOID:0111133 OMIM:616032 UMLS:C4014993" GO:0002645 "Any process that activates or increases the frequency, rate, or extent of tolerance induction." UBERON:0008716 UBERON:0014852 @@ -4712,15 +4710,15 @@ MONDO:0033969 "Orphanet:529980" MONDO:0054593 "UMLS:C4479608 OMIM:617520 DOID:0070295" CHR:9606-chr2q23 MONDO:0007323 "OMIM:118670" -MONDO:0001926 "A non-neoplastic or neoplastic disorder affecting the ureter." "UMLS:C0403608 UMLS:C0041954 DOID:1426 MESH:D014515 NCIT:C27148 SCTID:128073008" +MONDO:0001926 "A non-neoplastic or neoplastic disorder affecting the ureter." "UMLS:C0403608 UMLS:C0041954 DOID:1426 MESH:D014515 ICD10CM:N25-N29 NCIT:C27148 SCTID:128073008" MONDO:0007589 "Orphanet:891 DOID:0111412 OMIM:133780 MESH:C536382 UMLS:C1851402 Orphanet:90050" -MONDO:0016017 "Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia." "ICD10:Q86.8 Orphanet:1923 GARD:0003573 SCTID:724144006 UMLS:C4510379" +MONDO:0016017 "Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia." "Orphanet:1923 GARD:0003573 SCTID:724144006 UMLS:C4510379 ICD10CM:Q86.8" CHEBI:33302 "A p-block molecular entity containing any pnictogen." UBERON:0005113 CL:0000377 MONDO:0030105 "OMIM:618881 Orphanet:570422" http://identifiers.org/hgnc/18986 -MONDO:0001952 "A malignant neoplasm involving the parietal lobe" "SCTID:363469001 NCIT:C5573 ICD9:191.3 DOID:14384 ICD10:C71.3 UMLS:C1263888 UMLS:C0153637 SCTID:126956001" +MONDO:0001952 "A malignant neoplasm involving the parietal lobe" "SCTID:363469001 NCIT:C5573 ICD9:191.3 DOID:14384 UMLS:C1263888 ICD10CM:C71.3 UMLS:C0153637 SCTID:126956001" MONDO:0021377 "A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring." "UMLS:C0023649 NCIT:C34779 SCTID:68266006" GO:0002922 "Any process that activates or increases the frequency, rate, or extent of a humoral immune response." MONDO:0006125 @@ -4730,29 +4728,28 @@ UBERON:0008971 http://identifiers.org/hgnc/1067 MONDO:0016191 "Orphanet:209053" MONDO:0032765 "OMIM:618462" -MONDO:0016368 "Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer." "Orphanet:221008 OMIM:618625 ICD10:Q82.8 UMLS:CN201233" +MONDO:0016368 "Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer." "Orphanet:221008 OMIM:618625 UMLS:CN201233 ICD10CM:Q82.8" MONDO:0002380 "A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma." "ICDO:8982/1 DOID:2661 UMLS:C0027070 ICDO:8982/0 NCIT:C40392 UMLS:C1947949 MESH:D009208" -MONDO:0017610 "Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." "OMIM:131800 GARD:0010752 MESH:D016110 UMLS:C0079298 OMIMPS:131760 OMIM:131900 OMIM:131960 OMIM:601001 NCIT:C84692 Orphanet:304 ICD10:Q81.0 DOID:4644 SCTID:67144006 OMIM:615425 ICD9:757.39 OMIM:131760" +MONDO:0017610 "Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." "OMIM:131800 GARD:0010752 MESH:D016110 UMLS:C0079298 ICD10CM:Q81.0 OMIMPS:131760 OMIM:131900 OMIM:131960 OMIM:601001 NCIT:C84692 Orphanet:304 DOID:4644 SCTID:67144006 OMIM:615425 OMIM:131760 ICD9:757.39" http://identifiers.org/hgnc/8101 MONDO:0014736 "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene." "UMLS:C4225243 DOID:0110181 OMIM:616688 Orphanet:466768" -MONDO:0005976 "A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system." "MESH:D013587 ICD9:097.9 SCTID:76272004 MESH:D002601 NCIT:C35055 DOID:4166 MedDRA:10062120 ICD10:A51.0 EFO:0007504" -MONDO:0006584 "Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma." "ICD9:774.6 DOID:2383 ICD10:P59.9 UMLS:C0022353 EFO:1000739 MESH:D007567 ICD9:774.5 NCIT:C99246 SCTID:387712008" +MONDO:0005976 "A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system." "MESH:D013587 ICD9:097.9 SCTID:76272004 MESH:D002601 NCIT:C35055 DOID:4166 MedDRA:10062120 EFO:0007504" +MONDO:0006584 "Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma." "ICD9:774.6 DOID:2383 UMLS:C0022353 EFO:1000739 MESH:D007567 ICD9:774.5 NCIT:C99246 SCTID:387712008" UBERON:0012466 -MONDO:0020369 "Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy." "MESH:D057129 UMLS:C0544008 ICD10:H18.51 SCTID:416960004 ICD9:371.57 MedDRA:10057487 UMLS:C1096100 ICD10:H21.2 Orphanet:98979 GARD:0006033 DOID:11554" -MONDO:0022794 "A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8." "GARD:0012070" +MONDO:0020369 "Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy." "MESH:D057129 UMLS:C0544008 SCTID:416960004 ICD9:371.57 MedDRA:10057487 UMLS:C1096100 Orphanet:98979 GARD:0006033 DOID:11554 ICD10CM:H21.2" MONDO:0023016 "GARD:0001976" MONDO:0007324 -MONDO:0015307 "Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss." "ICD10:G12.2 Orphanet:137867 GARD:0010742 UMLS:C0393551" +MONDO:0015307 "Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss." "ICD10CM:G12.2 Orphanet:137867 GARD:0010742 UMLS:C0393551" MONDO:0002145 "A congenital disorder characterized by abnormalities in the development of the sexual characteristics." "MESH:D012734 DOID:1923 SCTID:39179006 Orphanet:90771 UMLS:CN757797 GTR:AN1172969 MedDRA:10070597 NCIT:C103186" CHR:9606-chr2q22 -MONDO:0006946 "Abnormalities of bone mineral metabolism associated with chronic kidney disease." "NCIT:C114827 DOID:13068 GARD:0007551 ICD9:588.0 UMLS:C0035086 MedDRA:10038489 EFO:1001152 MESH:D012080 ICD10:N25.0 SCTID:16726004" -MONDO:0006002 "A general term for mycobacterium infections of any part of the urogenital system in either the male or the female." "ICD10:A18.10 UMLS:C0041333 SCTID:4445009 MESH:D014401 ICD9:016.9 ICD9:016 ICD10:A18.1 ICD9:016.90 EFO:0007531 ICD9:016.92 DOID:2149" +MONDO:0006946 "Abnormalities of bone mineral metabolism associated with chronic kidney disease." "NCIT:C114827 DOID:13068 GARD:0007551 ICD9:588.0 UMLS:C0035086 MedDRA:10038489 ICD10CM:N25.0 EFO:1001152 MESH:D012080 SCTID:16726004" +MONDO:0006002 "A general term for mycobacterium infections of any part of the urogenital system in either the male or the female." "UMLS:C0041333 SCTID:4445009 MESH:D014401 ICD9:016.9 ICD9:016 ICD9:016.90 EFO:0007531 ICD9:016.92 DOID:2149" UBERON:0007773 GO:0045190 "The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus." -MONDO:0018891 "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis." "OMIM:211900 GARD:0010877 MedDRA:10059364 OMIM:610455 ICD10:M11.2 Orphanet:53715" -MONDO:0015272 "Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966." "MESH:C537972 SCTID:733466005 UMLS:C2931681 ICD10:Q68.1 GARD:0001069 Orphanet:1325" -MONDO:0019926 "X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures." "ICD10:Q99.8 SCTID:766760004 Orphanet:96201" -MONDO:0019169 "Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency." "OMIM:246900 OMIM:312170 OMIM:245348 ICD9:277.89 DOID:3649 ICD10:E74.4 Orphanet:765 NCIT:C103968 SCTID:46683007 GARD:0007513 OMIM:245349 Orphanet:79243 SCTID:124593001 OMIM:608782 OMIMPS:312170 EFO:0007459 OMIM:614111" +MONDO:0018891 "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis." "OMIM:211900 GARD:0010877 MedDRA:10059364 ICD10CM:M11.2 OMIM:610455 Orphanet:53715" +MONDO:0015272 "Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966." "MESH:C537972 SCTID:733466005 ICD10CM:Q68.1 UMLS:C2931681 GARD:0001069 Orphanet:1325" +MONDO:0019926 "X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures." "ICD10CM:Q99.8 SCTID:766760004 Orphanet:96201" +MONDO:0019169 "Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency." "OMIM:246900 OMIM:312170 OMIM:245348 ICD9:277.89 DOID:3649 Orphanet:765 NCIT:C103968 SCTID:46683007 GARD:0007513 OMIM:245349 Orphanet:79243 ICD10CM:E74.4 SCTID:124593001 OMIM:608782 OMIMPS:312170 EFO:0007459 OMIM:614111" http://identifiers.org/hgnc/23631 MONDO:0016190 "Orphanet:209050" GO:0009968 "Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction." @@ -4764,30 +4761,30 @@ CHEBI:76971 "Any bacterial metabolite produced during a metabolic reaction in Es UBERON:0012465 MONDO:0023017 "GARD:0001977" GO:0033046 "Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation." -MONDO:0020458 "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected." "UMLS:C1863235 ICD10:D55.3 Orphanet:99138 MESH:C566314 UMLS:CN207319 OMIM:102730" +MONDO:0020458 "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected." "UMLS:C1863235 Orphanet:99138 MESH:C566314 UMLS:CN207319 OMIM:102730 ICD10CM:D55.3" MONDO:0007325 "OMIM:118750 UMLS:C1861569 MESH:C566127" UBERON:0005115 MONDO:0009982 "OMIM:268010 MESH:C564842 UMLS:C1849405" -MONDO:0019670 "Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." "ICD10:Q71.5 Orphanet:93320 ICD9:755.59 SCTID:21893008" +MONDO:0019670 "Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone." "Orphanet:93320 ICD9:755.59 SCTID:21893008" MONDO:0032768 "OMIM:618468" UBERON:0007772 -MONDO:0011162 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene." "Orphanet:98993 DOID:0110253 MESH:C566608 ICD10:Q12.0 Orphanet:98991 OMIM:601885 UMLS:C1866078 Orphanet:91492 Orphanet:98984" +MONDO:0011162 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene." "Orphanet:98993 DOID:0110253 MESH:C566608 Orphanet:98991 OMIM:601885 UMLS:C1866078 Orphanet:91492 Orphanet:98984" MONDO:0024478 "UMLS:C0334090 NCIT:C40427" -MONDO:0011527 "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity." "GARD:0006170 Orphanet:99951 GARD:0009203 SCTID:763135001 MESH:C535301 OMIM:605253 ICD10:G60.0 DOID:0110195" +MONDO:0011527 "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity." "GARD:0006170 Orphanet:99951 GARD:0009203 SCTID:763135001 MESH:C535301 ICD10CM:G60.0 OMIM:605253 DOID:0110195" MONDO:0006127 http://identifiers.org/hgnc/1069 http://identifiers.org/hgnc/21237 MONDO:0008784 -MONDO:0017183 "HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution." "ICD10:E16.1 SCTID:721834007 Orphanet:276556 UMLS:C4303082" +MONDO:0017183 "HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution." "SCTID:721834007 Orphanet:276556 UMLS:C4303082 ICD10CM:E16.1" PATO:0001410 "A shape quality inhering in a bearer by virtue of the bearer's being marked by narrow lines or grooves, usually parallel." UBERON:0012464 MONDO:0009667 "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." "Orphanet:899 UMLS:C3151519 Orphanet:588 DOID:0111236 NCIT:C126740 OMIM:253280" UBERON:0006574 -MONDO:0009121 "Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." "ICD10:Q87.8 GARD:0001894 Orphanet:3439 UMLS:C1857226 MESH:C565618 OMIM:223340 SCTID:719021005" +MONDO:0009121 "Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." "GARD:0001894 Orphanet:3439 UMLS:C1857226 MESH:C565618 OMIM:223340 ICD10CM:Q87.8 SCTID:719021005" GO:0005978 "The chemical reactions and pathways resulting in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues." MONDO:0013999 "Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches." "Orphanet:313800 OMIM:614979 UMLS:C3554278" CHEBI:47909 "A 3-oxo steroid conjugated to a C=C double bond at the alpha,beta position." -MONDO:0017197 "Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock." "MESH:C536054 UMLS:C2931096 Orphanet:2779 ICD10:Q77.8 GARD:0005562" +MONDO:0017197 "Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock." "MESH:C536054 UMLS:C2931096 Orphanet:2779 GARD:0005562 ICD10CM:Q77.8" GO:0048873 "Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue." HP:0012373 "A functional anomaly of the eye." "UMLS:C4022924" MONDO:0007326 @@ -4796,8 +4793,8 @@ UBERON:0005116 MONDO:0014307 "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene." "OMIM:615696 UMLS:C3810313 Orphanet:79145" MONDO:0006893 "Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." "MESH:D006483 EFO:1001091 SCTID:198462004" MONDO:0009981 -MONDO:0008777 "Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." "UMLS:C0339273 NCIT:C142805 DOID:0060449 ICD10:H18.5 Orphanet:98957 OMIM:204870 GARD:0009647 MESH:C535480" -MONDO:0024575 "A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor." "MESH:D011248 NCIT:C35169 SCTID:173300003" +MONDO:0008777 "Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." "UMLS:C0339273 NCIT:C142805 DOID:0060449 Orphanet:98957 OMIM:204870 ICD10CM:H18.5 GARD:0009647 MESH:C535480" +MONDO:0024575 "A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor." "ICD10CM:O20-O29 ICD10CM:O00-O9A ICD10CM:O10-O16 MESH:D011248 NCIT:C35169 SCTID:173300003" MONDO:0032767 "OMIM:618464" UBERON:0007771 HP:0004299 "The presence of a hernia in the abdominal wall." "UMLS:C1442978 SNOMEDCT_US:128545000 Fyler:4414" @@ -4828,8 +4825,8 @@ http://identifiers.org/hgnc/21497 MONDO:0004545 "A malignant peripheral nerve sheath tumor occurring during adulthood." "DOID:8369 NCIT:C7814 UMLS:C0278622" MONDO:0004825 UBERON:0002616 -MONDO:0009568 "Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging." "Orphanet:101001 ICD10:G11.4 SCTID:764734003 DOID:0060245 MESH:C565409 UMLS:C1855346 OMIM:248900" -MONDO:0020071 "A epilepsy syndrome that occurs between 28 days to one year of life.." "Orphanet:98258 ICD10:G40.4 UMLS:CN206975" +MONDO:0009568 "Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging." "Orphanet:101001 SCTID:764734003 DOID:0060245 MESH:C565409 UMLS:C1855346 OMIM:248900 ICD10CM:G11.4" +MONDO:0020071 "A epilepsy syndrome that occurs between 28 days to one year of life.." "Orphanet:98258 ICD10CM:G40.4 UMLS:CN206975" MONDO:0030366 "OMIM:619492" CL:0002121 "A CD24-negative CD38-negative IgG-negative memory B cell is a CD38-negative IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD24-negative, CD38-negative, and IgG-negative." MONDO:0015619 "A urogenital tract malformation that is not part of a larger syndrome." "Orphanet:165704" @@ -4838,10 +4835,10 @@ UBERON:0004177 GO:0002699 "Any process that activates or increases the frequency, rate, or extent of an immune effector process." NCIT:C17828 http://identifiers.org/hgnc/19048 -MONDO:0015045 "Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption." "DOID:0060126 EFO:1001798 Orphanet:100025 MESH:D007161 ICDO:9764/3 NCIT:C3132 UMLS:C0021071 ICD10:C88.3 ICDO:9760/3" +MONDO:0015045 "Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption." "DOID:0060126 EFO:1001798 Orphanet:100025 ICD10CM:C88.3 MESH:D007161 ICDO:9764/3 NCIT:C3132 UMLS:C0021071 ICDO:9760/3" MONDO:0006876 "Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." "EFO:1001070 SCTID:49107007 ICD9:017.32 DOID:0070344 ICD9:017.30 UMLS:C0041322 MESH:D014392" MONDO:0002905 "The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis." "MESH:D009155 HP:0002300 UMLS:C0026884 DOID:4189" -MONDO:0015034 "Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia." "Orphanet:100011 ICD10:Q04.3 UMLS:CN228900" +MONDO:0015034 "Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia." "Orphanet:100011 UMLS:CN228900 ICD10CM:Q04.3" MONDO:0007320 "OMIM:118610 GARD:0010139 UMLS:C1861580 MESH:C535939" CL:1001586 "Glandular cell of mammary epithelium. Example: glandular cells of large and intermediate ducts, glandular cells in terminal ducts." "CALOHA:TS-1272" UBERON:0001417 @@ -4858,9 +4855,9 @@ MONDO:0008789 "UMLS:C1859786 OMIM:206300 MESH:C565953" http://identifiers.org/hgnc/3467 UBERON:0010060 MONDO:0012270 "Orphanet:45358 UMLS:C1836217 OMIM:609428 GARD:0009814" -MONDO:0018385 "An instance of osteochondrosis that is caused by a modification of the individual's genome." "ICD10:M93.9 Orphanet:399391" +MONDO:0018385 "An instance of osteochondrosis that is caused by a modification of the individual's genome." "ICD10CM:M93.9 Orphanet:399391" PATO:0001857 "A shape quality in a bearer by virtue of the bearer's curving inward." -MONDO:0011761 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3." "UMLS:C1846922 OMIM:607017 DOID:0110551 MESH:C564634 ICD10:H90.3" +MONDO:0011761 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3." "UMLS:C1846922 OMIM:607017 DOID:0110551 MESH:C564634" GO:0045017 "The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone." UBERON:0004178 GO:0099601 "Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors." @@ -4869,11 +4866,11 @@ GO:0051056 "Any process that modulates the frequency, rate or extent of small GT GO:0033043 "Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle." CHEBI:48379 "A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives." GO:1905124 "Any process that stops, prevents or reduces the frequency, rate or extent of glucosylceramidase activity." -MONDO:0007587 "UMLS:C2930867 Orphanet:3023 ICD10:Q87.8 OMIM:133705 GARD:0004638" -MONDO:0005618 "A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." "NCIT:C2878 ICD10:F41.9 DOID:2030 MESH:D001008 ICD9:300.09 EFO:0006788 OMIM:607834 SCTID:197480006" +MONDO:0007587 "UMLS:C2930867 Orphanet:3023 ICD10CM:Q87.8 OMIM:133705 GARD:0004638" +MONDO:0005618 "A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." "NCIT:C2878 DOID:2030 MESH:D001008 ICD9:300.09 EFO:0006788 ICD10CM:F40-F48 OMIM:607834 SCTID:197480006" GO:0051784 "Any process that stops, prevents, or reduces the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information." CHEBI:23014 -MONDO:0009504 "Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated." "SCTID:715338007 MESH:C566885 DOID:0080128 ICD10:E71.1 GARD:0003163 OMIM:245400 Orphanet:17 MESH:C538134" +MONDO:0009504 "Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated." "SCTID:715338007 MESH:C566885 DOID:0080128 ICD10CM:E71.1 GARD:0003163 OMIM:245400 Orphanet:17 MESH:C538134" MONDO:0009986 "GARD:0004688 OMIM:268050 MESH:C538367 Orphanet:3084" MONDO:0006330 "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients." "DOID:2685 ICDO:8842/0 NCIT:C6582 ONCOTREE:OFMT SCTID:404076001 UMLS:C1266128 EFO:1000408" http://identifiers.org/hgnc/4400 @@ -4882,31 +4879,31 @@ NCBITaxon:58023 "GC_ID:1" UBERON:0005111 MONDO:0003081 "A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma." "MESH:D013786 UMLS:C0039726 DOID:4662 NCIT:C85186" MONDO:0011397 "Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia." "Orphanet:314404 UMLS:CN203753 GARD:0012372 OMIM:604121 DOID:0050968" -MONDO:0009589 "Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive." "MESH:C565404 GARD:0003552 OMIM:249710 SCTID:715471007 Orphanet:2631 ICD10:Q78.8" +MONDO:0009589 "Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive." "MESH:C565404 GARD:0003552 OMIM:249710 ICD10CM:Q78.8 SCTID:715471007 Orphanet:2631" MONDO:0004720 "A orthopoxvirus that causes a milder clinical syndrome than smallpox." "ICD9:050.1 NCIT:C34365 UMLS:C0001906 SCTID:72294005 MESH:D012899 DOID:9153" UBERON:0002618 MONDO:0008522 "UMLS:C1861304 MESH:C566087 GARD:0007720 OMIM:186575" -MONDO:0021113 "The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function." "UMLS:C1145670 SCTID:39871006 MESH:D012131 DOID:11162 ICD9:518.81 NCIT:C27043 ICD10:J96.0 ICD9:518.83 UMLS:C0264490 SCTID:65710008 NCIT:C26872" +MONDO:0021113 "The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function." "UMLS:C1145670 SCTID:39871006 MESH:D012131 DOID:11162 ICD9:518.81 NCIT:C27043 ICD9:518.83 UMLS:C0264490 SCTID:65710008 NCIT:C26872" UBERON:0010061 MONDO:0006428 "A diffuse large B-cell lymphoma occurring in the spleen." "EFO:1000547 NCIT:C7308 UMLS:C2018774" -MONDO:0020481 "Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." "ICD10:G71.1 OMIM:608390 Orphanet:99734 NCIT:C122789 UMLS:C0752355 SCTID:715788001" +MONDO:0020481 "Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." "OMIM:608390 Orphanet:99734 NCIT:C122789 ICD10CM:G71.1 UMLS:C0752355 SCTID:715788001" MONDO:0032763 "OMIM:618459" UBERON:0006312 MONDO:0023018 "GARD:0001983" -MONDO:0000923 "Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome." "ICD9:518.1 SCTID:77690003 ICD10:J98.2 NCIT:C34571 UMLS:C1370824 DOID:10030" -MONDO:0003709 "An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop." "EFO:1001872 ICD10:F40.00 ICD10:F40.0 NCIT:C34362 DOID:593 MESH:D000379 SCTID:70691001" +MONDO:0000923 "Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome." "ICD10CM:J98.2 ICD9:518.1 SCTID:77690003 NCIT:C34571 UMLS:C1370824 DOID:10030" +MONDO:0003709 "An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop." "EFO:1001872 NCIT:C34362 DOID:593 ICD10CM:F40.0 MESH:D000379 SCTID:70691001" GO:0016765 "Catalysis of the transfer of an alkyl or aryl (but not methyl) group from one compound (donor) to another (acceptor)." http://identifiers.org/hgnc/26392 CHR:9606-chr2q24 MONDO:0003780 "A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective." "DOID:613 NCIT:C27145 UMLS:C1274233 SCTID:402792003" UBERON:0001419 -MONDO:0005534 "Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon." "DOID:0060190 UMLS:C0949272 ICD10:K52.9 EFO:0005624 MedDRA:10062647" +MONDO:0005534 "Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon." "DOID:0060190 UMLS:C0949272 EFO:0005624 MedDRA:10062647" MONDO:0011073 "Orphanet:99886 SCTID:609579009 OMIM:601410 MESH:C563322" -MONDO:0007322 "SCTID:254083002 ICD9:756.59 Orphanet:79346 OMIM:118651 MESH:C562961 ICD10:Q77.3" +MONDO:0007322 "SCTID:254083002 ICD9:756.59 ICD10CM:Q77.3 Orphanet:79346 OMIM:118651 MESH:C562961" ENVO:01000044 "A prominent or distinctive aspect, quality, or characteristic of environments occurring within the marine water column." http://identifiers.org/hgnc/4401 HP:0001558 "An abnormal reduction in quantity or strength of fetal movements." "SNOMEDCT_US:276369006 UMLS:C0235659" -MONDO:0007177 "Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature." "OMIM:109000 Orphanet:114 ICD10:Q87.5 MESH:C538271 GARD:0008663 UMLS:C1862381" +MONDO:0007177 "Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature." "OMIM:109000 Orphanet:114 MESH:C538271 GARD:0008663 ICD10CM:Q87.5 UMLS:C1862381" ENVO:01001299 "An environmental zone which is part of an atmosphere." MONDO:0006124 MONDO:0032762 "OMIM:618457 DOID:0111643" @@ -4917,27 +4914,27 @@ CHEBI:24662 "A non-proteinogenic alpha-amino acid bearing one or more hydroxy gr UBERON:0010062 UBERON:0008974 UBERON:0006311 -MONDO:0013226 "Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia)." "UMLS:C2750068 OMIM:613328 Orphanet:221139 MESH:C567641 ICD10:Q87.8" +MONDO:0013226 "Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia)." "UMLS:C2750068 OMIM:613328 ICD10CM:Q87.8 Orphanet:221139 MESH:C567641" MONDO:0000374 "A carcinoma in situ involving a bile duct." "DOID:0050613" -MONDO:0004717 "A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs." "DOID:914 UMLS:C0030781 EFO:1001387 MESH:D010382 SCTID:58008004 ICD10:K76.4" +MONDO:0004717 "A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs." "DOID:914 UMLS:C0030781 ICD10CM:K76.4 EFO:1001387 MESH:D010382 SCTID:58008004" MONDO:0023019 "GARD:0001984" PATO:0002072 "An affinity which is relatively low." GO:1901700 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus." -MONDO:0019517 "Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum." "OMIM:606662 UMLS:C2700265 OMIM:608890 GARD:0005520 MESH:C536463 OMIM:600193 Orphanet:895 OMIM:193510 OMIM:611584 NCIT:C75009 ICD10:E70.3" +MONDO:0019517 "Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum." "OMIM:606662 UMLS:C2700265 OMIM:608890 GARD:0005520 MESH:C536463 OMIM:600193 ICD10CM:E70.3 Orphanet:895 OMIM:193510 OMIM:611584 NCIT:C75009" MONDO:0016199 "Orphanet:209199" -MONDO:0019791 "EFO:0008816 Orphanet:94125 ICD10:G11.8 UMLS:CN206743" +MONDO:0019791 "EFO:0008816 Orphanet:94125 UMLS:CN206743 ICD10CM:G11.8" CHEBI:33700 MONDO:0017130 "Orphanet:271844" -MONDO:0009726 "GARD:0010811 OMIM:256040 Orphanet:324977 DOID:0050553 ICD9:709.8 GARD:0003917 Orphanet:324999 MESH:C538334 Orphanet:325004 UMLS:CN204109 Orphanet:2615 OMIMPS:256040 ICD10:L98.8 GARD:0003916 GARD:0010988 UMLS:CN202195 SCTID:702449004" +MONDO:0009726 "GARD:0010811 OMIM:256040 Orphanet:324977 ICD10CM:L98.8 DOID:0050553 ICD9:709.8 GARD:0003917 Orphanet:324999 MESH:C538334 Orphanet:325004 UMLS:CN204109 Orphanet:2615 OMIMPS:256040 GARD:0003916 GARD:0010988 UMLS:CN202195 SCTID:702449004" HP:0005406 "Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis." "UMLS:C1835686" MONDO:0030362 "OMIM:619487" -MONDO:0014636 "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene." "DOID:0111468 ICD10:E88.8 EFO:0009035 UMLS:C4225329 OMIM:616430 Orphanet:447954" +MONDO:0014636 "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene." "DOID:0111468 ICD10CM:E88.8 EFO:0009035 UMLS:C4225329 OMIM:616430 Orphanet:447954" MONDO:0017396 "Orphanet:293815" http://identifiers.org/hgnc/8109 MONDO:0005642 "Conjunctivitis due to hypersensitivity to various allergens." "HP:0007879 ICD9:372.14 UMLS:C0009766 DOID:11204 EFO:0007141 NCIT:C34506 SCTID:473460002" -MONDO:0010626 "The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele." "Orphanet:183663 Orphanet:101088 Wikidata:Q3508611 OMIM:308230 DOID:6620 OMIM:606843 DOID:0060022 NCIT:C61244 SCTID:403835002 GARD:0000073 UMLS:C0398689 ICD10:D80.5" +MONDO:0010626 "The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele." "Orphanet:183663 Orphanet:101088 Wikidata:Q3508611 ICD10CM:D80.5 OMIM:308230 DOID:6620 OMIM:606843 DOID:0060022 NCIT:C61244 SCTID:403835002 GARD:0000073 UMLS:C0398689" GO:0051703 "Any process in which an organism has an effect on an organism of the same species." -MONDO:0015834 "ICD10:Q51.1 MedDRA:10012770 SCTID:15545001 Orphanet:180086 ICD9:752.2" +MONDO:0015834 "MedDRA:10012770 SCTID:15545001 Orphanet:180086 ICD9:752.2" UBERON:0010063 CL:0000166 "A cell that stores epinephrine secretory vesicles. During times of stress, the nervous system signals the vesicles to secrete their hormonal content. Their name derives from their ability to stain a brownish color with chromic salts. Characteristically, they are located in the adrenal medulla and paraganglia of the sympathetic nervous system." "FMA:69263 BTO:0000259" MONDO:0008528 "UMLS:C1861283 OMIM:186890" @@ -4946,8 +4943,8 @@ MONDO:0008023 "This disorder is characterized by muscular atrophy, ataxia, retin http://identifiers.org/hgnc/11429 MONDO:0016957 "Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person." "Orphanet:262878 MESH:C537812 GARD:0005353" http://identifiers.org/hgnc/11427 -MONDO:0010568 "Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females." "MedDRA:10054935 OMIM:304050 UMLS:C0175713 SCTID:80651009 NCIT:C35256 ICD10:Q04.0 GARD:0005764 DOID:8461 Orphanet:50 MESH:D058540" -MONDO:0004841 "Global enlargement of the renal parenchyma in one or both kidneys." "ICD9:593.1 UMLS:C0156259 SCTID:88531004 ICD10:N28.81 DOID:9622 NCIT:C122991" +MONDO:0010568 "Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females." "GARD:0005764 ICD10CM:Q04.0 SCTID:80651009 MESH:D058540 UMLS:C0175713 NCIT:C35256 Orphanet:50 MedDRA:10054935 DOID:8461 OMIM:304050" +MONDO:0004841 "Global enlargement of the renal parenchyma in one or both kidneys." "ICD9:593.1 ICD10CM:N28.81 UMLS:C0156259 SCTID:88531004 DOID:9622 NCIT:C122991" UBERON:0001679 CHEBI:23019 CL:0002548 "A fibroblast that is part of the heart." @@ -4959,7 +4956,7 @@ MONDO:0016198 "Orphanet:209196" http://identifiers.org/hgnc/20297 NCBITaxon:27841 "GC_ID:1" MONDO:0017131 "Orphanet:271853" -MONDO:0017397 "Orphanet:293830 ICD10:D64.4" +MONDO:0017397 "Orphanet:293830 ICD10CM:D64.4" MONDO:0002859 "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast." "UMLS:C1332637 DOID:4060 NCIT:C5190" MONDO:0006001 "A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time." "NCIT:C39294 DOID:1394 UMLS:C1704430 EFO:0007530 ICD9:120.0 SCTID:236706006 MESH:D012553 UMLS:C0276926" GO:0042749 "Any process that modulates the frequency, rate or extent of the circadian sleep/wake cycle." @@ -4972,28 +4969,28 @@ GO:0002828 "Any process that modulates the frequency, rate, or extent of a type UBERON:0001678 HP:0005387 "A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications." "UMLS:C0494261" HP:0045084 -MONDO:0001942 "An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months." "EFO:1001892 ICD10:F41.1 ICD9:300.02 DOID:14320 SCTID:21897009 NCIT:C92622" -MONDO:0019162 "Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." "OMIM:614491 UMLS:C1449844 OMIMPS:145260 OMIM:614492 OMIM:614495 NCIT:C123252 OMIM:614496 ICD10:I15.1 ICD9:588.89 OMIM:145260 Orphanet:757 GARD:0004553 SCTID:15689008" +MONDO:0001942 "An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months." "EFO:1001892 ICD9:300.02 DOID:14320 SCTID:21897009 NCIT:C92622 ICD10CM:F41.1" +MONDO:0019162 "Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function." "UMLS:C1449844 OMIM:614495 NCIT:C123252 Orphanet:757 GARD:0004553 OMIM:614496 OMIMPS:145260 SCTID:15689008 OMIM:614491 ICD9:588.89 OMIM:145260 OMIM:614492 ICD10CM:I15.1" MONDO:0022772 "A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation." "NCIT:C9112 UMLS:C0279084" MONDO:0008527 "SCTID:27173008 OMIM:186850 ICD9:755.67" MONDO:0007335 "Cleft lip with or without cleft palate mapped to chromosome 6p24." "UMLS:C1861537 MESH:C566121 OMIM:119530 DOID:0080395 Orphanet:1991 NCIT:C124838" -MONDO:0005550 "A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact." "ICD10:A00.B99 ICD9:136.9 DOID:0050117 ICD9:079.0 MESH:D003141 NCIT:C26726 EFO:0005741 SCTID:40733004 ICD9:136.8 IDO:0000436" +MONDO:0005550 "A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact." "ICD9:136.9 ICD10CM:A00-B99 DOID:0050117 ICD10CM:M00-M02 ICD9:079.0 MESH:D003141 NCIT:C26726 ICD10CM:P35-P39 EFO:0005741 SCTID:40733004 ICD9:136.8 IDO:0000436 ICD10CM:B99-B99" http://identifiers.org/hgnc/9305 UBERON:0001416 -MONDO:0016817 "Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure)." "OMIMPS:224690 OMIM:613805 MedDRA:10070612 OMIM:616835 SCTID:703508009 ICD10:Q87.1 OMIM:613800 OMIM:613804 Orphanet:2554 MESH:C538012 OMIM:613803 DOID:0060306 GARD:0002033 OMIM:617063 OMIM:224690" +MONDO:0016817 "Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure)." "OMIMPS:224690 OMIM:613805 MedDRA:10070612 OMIM:616835 SCTID:703508009 OMIM:613800 OMIM:613804 Orphanet:2554 MESH:C538012 OMIM:613803 ICD10CM:Q87.1 DOID:0060306 GARD:0002033 OMIM:617063 OMIM:224690" MONDO:0017286 "TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting." "Orphanet:284227 NCIT:C121656 SCTID:718614004 UMLS:C3854394 GARD:0010962" CL:0000507 "A peptide hormone secreting cell that secretes endorphin." MONDO:0004397 "A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies." "DOID:7921 NCIT:C6636 UMLS:C1332513" UBERON:0035450 MONDO:0006813 "A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction." "MESH:D018330 UMLS:C0206737 EFO:1000995 ICDO:8750/0 NCIT:C3804 MedDRA:10058537 SCTID:302838006" -MONDO:0015413 "Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated." "Orphanet:141239 ICD10:Q18.8" -MONDO:0002357 "A malignant neoplasm involving the hepatic flexure of colon." "ICD10:C18.3 SCTID:363407001 ICD9:153.0 UMLS:C0153433 DOID:260" -MONDO:0014518 "Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene." "DOID:0111048 ICD10:D69.4 OMIM:616176 Orphanet:438207 UMLS:C4015405" -MONDO:0004647 "A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion." "SCTID:109355002 UMLS:C0007099 ICD9:234.8 ICD9:234.9 ICD9:230-234.99 NCIT:C2917 MESH:D002278 ICD10:D09.9 ICDO:8010/2 DOID:8719" +MONDO:0015413 "Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated." "Orphanet:141239 ICD10CM:Q18.8" +MONDO:0002357 "A malignant neoplasm involving the hepatic flexure of colon." "SCTID:363407001 ICD9:153.0 UMLS:C0153433 DOID:260" +MONDO:0014518 "Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene." "DOID:0111048 OMIM:616176 Orphanet:438207 ICD10CM:D69.4 UMLS:C4015405" +MONDO:0004647 "A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion." "SCTID:109355002 UMLS:C0007099 ICD9:234.8 ICD9:234.9 ICD9:230-234.99 NCIT:C2917 MESH:D002278 ICD10CM:D00-D09 ICDO:8010/2 DOID:8719" MONDO:0016197 "Orphanet:209193" HP:0031137 "Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material." CL:0002679 "A lymphocyte found in adipose tissue that lacks lineage markers of other lymphocytes but is capable of mediating TH2 cytokine responses. This cell type is found in fat associated lymphoid clusters, proliferates in response to IL2 and produce large amounts of TH2 cytokines such as IL5, IL6 and IL13" -MONDO:0008618 "Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula." "MESH:C537349 GARD:0003555 SCTID:715472000 OMIM:191400 Orphanet:2634 UMLS:C1860616 ICD10:Q78.8" +MONDO:0008618 "Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula." "MESH:C537349 GARD:0003555 SCTID:715472000 ICD10CM:Q78.8 OMIM:191400 Orphanet:2634 UMLS:C1860616" ENVO:00002114 "Sediment which has increased levels of one or more chemical compounds." MONDO:0023272 "GARD:0002545" UBERON:0004175 @@ -5008,7 +5005,7 @@ GO:0032787 "The chemical reactions and pathways involving monocarboxylic acids, MONDO:0024471 "Orphanet:496924" CHEBI:25414 GO:0045926 "Any process that stops, prevents or reduces the rate or extent of growth, the increase in size or mass of all or part of an organism." -MONDO:0019066 "OBSOLETE. Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis." "UMLS:CN205546 Orphanet:69028 ICD10:Q73.8" +MONDO:0019066 "OBSOLETE. Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis." "ICD10CM:Q73.8 UMLS:CN205546 Orphanet:69028" MONDO:0009989 GO:0015103 "Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage." MONDO:0016196 "Orphanet:209188" @@ -5018,16 +5015,16 @@ http://identifiers.org/hgnc/8108 MONDO:0030361 "OMIM:619486" MONDO:0008525 "OMIM:186700 Orphanet:3280 MESH:C566084" MONDO:0043103 "A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition." "SCTID:22558005 GARD:0002938 NCIT:C121747 UMLS:C0271826" -MONDO:0015831 "ICD10:Q51.4 Orphanet:180071" -MONDO:0004745 "Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications." "NCIT:C85022 UMLS:C0033117 DOID:9286 ICD9:607.3 MESH:D011317 Orphanet:140949 ICD10:N48.3 ICD10:N48.30 SCTID:6273006" +MONDO:0015831 "Orphanet:180071" +MONDO:0004745 "Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications." "NCIT:C85022 ICD10CM:N48.3 UMLS:C0033117 DOID:9286 ICD9:607.3 MESH:D011317 Orphanet:140949 SCTID:6273006" MONDO:0003141 "A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain." "UMLS:C1332904 DOID:4787 NCIT:C5436" -MONDO:0019122 "Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection." "SCTID:64936001 NCIT:C35301 ICD10:J82 GARD:0000107 UMLS:C0242459 UMLS:C4518469 Orphanet:724 GARD:0000519 MESH:D011657 UMLS:CN227574 DOID:9503" +MONDO:0019122 "Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection." "SCTID:64936001 NCIT:C35301 GARD:0000107 ICD10CM:J82 UMLS:C0242459 UMLS:C4518469 Orphanet:724 GARD:0000519 MESH:D011657 UMLS:CN227574 DOID:9503" HP:0011927 "One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened." "UMLS:C4023124 UMLS:C1860176" UBERON:0004176 GO:1903580 "Any process that activates or increases the frequency, rate or extent of ATP metabolic process." -MONDO:0018593 "UMLS:CN237623 Orphanet:439737 ICD10:M30.0" +MONDO:0018593 "ICD10CM:M30.0 UMLS:CN237623 Orphanet:439737" MONDO:0022444 "Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses." "GARD:0001026" -MONDO:0004985 "A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression." "UMLS:C0005586 ICD9:296.40 NCIT:C34424 DOID:3312 EFO:0000289 SCTID:13746004 NIFSTD:birnlex_12754 MESH:D001714 NCIT:C34805 NCIT:C34423 ICD10:F31 SCTID:191627008 OMIM:612371 ICD10:F31.9 OMIM:612357 ICD9:296.80 ICD9:296.89 ICD9:296.60" +MONDO:0004985 "A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression." "UMLS:C0005586 ICD9:296.40 ICD10CM:F31 NCIT:C34424 DOID:3312 EFO:0000289 SCTID:13746004 NIFSTD:birnlex_12754 MESH:D001714 NCIT:C34805 NCIT:C34423 SCTID:191627008 OMIM:612371 OMIM:612357 ICD9:296.80 ICD9:296.89 ICD9:296.60" GO:0016818 "Catalysis of the hydrolysis of any acid anhydride which contains phosphorus." MONDO:0008263 "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." "MESH:C536326 OMIM:173900 Orphanet:730 UMLS:C3149841 DOID:0110858 SCTID:253878003" MONDO:0021192 "A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain." "ICDO:9270/1 UMLS:C0028880 MESH:D009808 NCIT:C3286" @@ -5036,24 +5033,24 @@ MONDO:0013005 "SeSAME syndrome is characterized by seizures, sensorineural deafn UBERON:0000478 MONDO:0007327 "OMIM:118830 UMLS:C1861560 MESH:C566126 DOID:0111419" http://identifiers.org/hgnc/9303 -MONDO:0008546 "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." "NCIT:C98583 Orphanet:1860 GARD:0004889 UMLS:C1868678 UMLS:C1300256 GARD:0009295 ICD10:Q77.1 Orphanet:2655 OMIM:187600" +MONDO:0008546 "Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." "NCIT:C98583 Orphanet:1860 GARD:0004889 UMLS:C1868678 UMLS:C1300256 GARD:0009295 OMIM:270230 Orphanet:2655 ICD10CM:Q77.1 OMIM:187600" CHEBI:75767 "Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals." MONDO:0002949 "A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma." "SCTID:403913006 DOID:4292 UMLS:C0555191 NCIT:C27182" -MONDO:0005277 "A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity." "NCIT:C113482 ICD10:G43.909 SCTID:37796009 ICD9:346 EFO:0003821 DOID:6364 NCIT:C89715 MESH:D008881 ICD9:346.9 ICD10:G43 ICD10:G43.9" +MONDO:0005277 "A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity." "NCIT:C113482 SCTID:37796009 ICD10CM:G40-G47 ICD9:346 EFO:0003821 DOID:6364 NCIT:C89715 MESH:D008881 ICD9:346.9" GO:0015171 "Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group." MONDO:0016195 "Orphanet:209185" -MONDO:0015830 "ICD10:Q51.8 Orphanet:180068" +MONDO:0015830 "ICD10CM:Q51.8 Orphanet:180068" UBERON:0001675 -MONDO:0100022 "An epilepsy sydrome that has an onset during the neonatal or infantile stage of life." "http://orcid.org/0000-0001-8486-0558" +MONDO:0100022 "An epilepsy sydrome that has an onset during the neonatal or infantile stage of life." MONDO:0020778 "OMIM:617236" MONDO:0006129 MONDO:0018590 "Orphanet:439246" -MONDO:0015431 "Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases." "UMLS:CN037257 Orphanet:1438 ICD10:Q93.2 SCTID:86997002 GARD:0001322 UMLS:C0265438 MESH:C538086" +MONDO:0015431 "Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases." "UMLS:CN037257 Orphanet:1438 SCTID:86997002 ICD10CM:Q93.2 GARD:0001322 UMLS:C0265438 MESH:C538086" NCBITaxon:129726 "GC_ID:1" PATO:0001404 "A cellular quality inhering in a bearer by virtue of bearer's number of nuclei." -MONDO:0017948 "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." "Orphanet:324718 ICD10:I68.0* OMIM:605714 ICD10:E85.4+" +MONDO:0017948 "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." "ICD10EXP:I68.0* Orphanet:324718 OMIM:605714 ICD10EXP:E85.4+" MONDO:0003458 "A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core." "UMLS:C1336901 DOID:5475 NCIT:C6337" -MONDO:0020512 "Orphanet:99861 ICD10:C91.0" +MONDO:0020512 "Orphanet:99861 ICD10CM:C91.0" MONDO:0043494 "An inflammatory process affecting an artery." "EFO:0009011 HP:0012089 MESH:D001167 SCTID:52089001 NCIT:C34399" MONDO:0003626 "A rare serous adenocarcinoma that arises from the uterine ligament." "UMLS:C1519872 DOID:5747 NCIT:C40136" GO:2001020 "Any process that modulates the frequency, rate or extent of response to DNA damage stimulus." @@ -5070,17 +5067,17 @@ http://identifiers.org/hgnc/13829 CHR:9606-chr7p22 MONDO:0006498 "A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous." "NCIT:C96479 SCTID:428054006 HP:0005227 EFO:1000633" UBERON:0036654 -MONDO:0011702 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene." "MESH:C564679 DOID:0110436 UMLS:C1847667 ICD10:I42.0 OMIM:606685" +MONDO:0011702 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene." "ICD10CM:I42.0 MESH:C564679 DOID:0110436 UMLS:C1847667 OMIM:606685" CL:0000553 "The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative)." "BTO:0001164 CALOHA:TS-0610 FMA:84235" http://identifiers.org/hgnc/1062 -MONDO:0012013 "A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome." "OMIM:608328 UMLS:C0265313 SCTID:722450007 Orphanet:2084 ICD10:Q87.1 Orphanet:3449 GARD:0002452" -MONDO:0018591 "ICD10:E85.4+ ICD9:277.39 ICD10:I68.0* UMLS:CN237622 SCTID:45639009 OMIM:117300 Orphanet:439254 OMIM:176500" +MONDO:0012013 "A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome." "OMIM:608328 UMLS:C0265313 ICD10CM:Q87.1 SCTID:722450007 Orphanet:2084 Orphanet:3449 GARD:0002452" +MONDO:0018591 "ICD9:277.39 UMLS:CN237622 SCTID:45639009 ICD10EXP:E85.4+ OMIM:117300 Orphanet:439254 ICD10EXP:I68.0* OMIM:176500" MONDO:0023013 "GARD:0001918 UMLS:C2930993 MESH:C535719" -MONDO:0001135 "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity." "ICD10:F65.3 MESH:D014843 ICD9:302.82 NCIT:C94360 DOID:10834 SCTID:63835008" +MONDO:0001135 "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity." "MESH:D014843 ICD9:302.82 NCIT:C94360 DOID:10834 ICD10CM:F65.3 SCTID:63835008" MONDO:0006735 "Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach." "DOID:4071 EFO:1000909 MedDRA:10060865 MESH:D004383 UMLS:C0013299" -MONDO:0016355 "Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." "Orphanet:220386 ICD10:Q04.2 OMIM:609637 OMIM:157170 OMIM:610829" +MONDO:0016355 "Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." "Orphanet:220386 OMIM:609637 ICD10CM:Q04.2 OMIM:157170 OMIM:610829" MONDO:0000684 "An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful." "DOID:0060154" -MONDO:0010302 "Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines." "ICD10:Q87.8 OMIM:300337 GARD:0002992 Orphanet:435 DOID:3156" +MONDO:0010302 "Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines." "OMIM:300337 GARD:0002992 Orphanet:435 DOID:3156 ICD10CM:Q87.8" http://identifiers.org/hgnc/2263 http://identifiers.org/hgnc/13825 MONDO:0001837 "Acute form of gonococcal salpingitis." "SCTID:45377007 UMLS:C0275654 ICD9:098.17 DOID:13942" @@ -5089,7 +5086,7 @@ MONDO:0003926 "A schwannoma that involves the pleura." "UMLS:C1335435 NCIT:C5418 MONDO:0016193 "Orphanet:209059" CHEBI:30102 CL:0000117 -MONDO:0019527 "An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases." "UMLS:C0409999 SCTID:239918008 Orphanet:90002 MedDRA:10071575 ICD10:M35.8 NCIT:C116776" +MONDO:0019527 "An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases." "UMLS:C0409999 ICD10CM:M35.8 SCTID:239918008 Orphanet:90002 MedDRA:10071575 NCIT:C116776" GO:0004497 "Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water." MONDO:0011581 "A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including woolly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features." "UMLS:C1854063 GARD:0005595 MESH:C535581 OMIM:615821 OMIM:605676 SCTID:719835006 Orphanet:65282 DOID:0090128" UBERON:0001677 @@ -5099,14 +5096,14 @@ GO:0032609 "The appearance of interferon-gamma due to biosynthesis or secretion UBERON:0010069 MONDO:0022913 "GARD:0001646" FOODON:03420122 "Bone, feathers, shell, skin or trim fat."@en -MONDO:0017861 "Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure." "ICD10:T52.8 Orphanet:31826 ICD9:982.8 SCTID:426692001" -MONDO:0008999 "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." "ICD9:759.89 ICD10:Q87.8 DOID:0111590 MedDRA:10049066 UMLS:C1854061 SCTID:56604005 Orphanet:193 MESH:C536438 GARD:0006126 OMIM:216550" +MONDO:0017861 "Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure." "Orphanet:31826 ICD9:982.8 ICD10CM:T52.8 SCTID:426692001" +MONDO:0008999 "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." "ICD9:759.89 DOID:0111590 MedDRA:10049066 UMLS:C1854061 SCTID:56604005 Orphanet:193 MESH:C536438 ICD10CM:Q87.8 GARD:0006126 OMIM:216550" MONDO:0024475 "NCIT:C8334" HP:0100267 "A depression located on a lip." "UMLS:C0341059" -MONDO:0009797 "An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine." "DOID:0050833 MedDRA:10052621 OMIM:258900 Orphanet:30 ICD10:E79.8 SCTID:47641009 GARD:0005429 NCIT:C98944" +MONDO:0009797 "An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine." "DOID:0050833 MedDRA:10052621 ICD10CM:E79.8 OMIM:258900 Orphanet:30 SCTID:47641009 GARD:0005429 NCIT:C98944" MONDO:0020757 "A migraine disorder characterized by an aura that includes motor weakness and the absence of family history." "NCIT:C117011" CHEBI:17015 "D-Ribitol in which the hydroxy group at position 5 is substituted by a 7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl moiety. It is a nutritional factor found in milk, eggs, malted barley, liver, kidney, heart, and leafy vegetables, but the richest natural source is yeast. The free form occurs only in the retina of the eye, in whey, and in urine; its principal forms in tissues and cells are as flavin mononucleotide and flavin-adenine dinucleotide." -MONDO:0009870 "Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome." "ICD10:Q84.1 HP:0003777 SCTID:17170005 MESH:C562485 Orphanet:2889 GARD:0004361 OMIM:261900" +MONDO:0009870 "Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome." "HP:0003777 SCTID:17170005 MESH:C562485 Orphanet:2889 GARD:0004361 ICD10CM:Q84.1 OMIM:261900" MONDO:0001572 "A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "NCIT:C3157 SCTID:146801000119103 MESH:D007889 ICD9:215.9 UMLS:C0023267 DOID:127 ICDO:8890/0" http://identifiers.org/hgnc/18985 UBERON:0000477 @@ -5117,9 +5114,9 @@ MONDO:0016192 "Orphanet:209056" MONDO:0006298 "An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma." "UMLS:C1334597 SCTID:713293002 EFO:1000366 NCIT:C6446" MONDO:0003347 "A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells." "UMLS:C1334179 DOID:5251 NCIT:C27495" MONDO:0005104 "Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)" "UMLS:C1332066 NCIT:C9419 EFO:0000737" -MONDO:0024677 "An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." "EFO:0000549 MESH:D007340 DOID:3892 MedDRA:10022498 SCTID:302822000 HP:0012197 ICD10:E16.8 NCIT:C95598 GARD:0003010" +MONDO:0024677 "An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin." "EFO:0000549 MESH:D007340 ICD10CM:E16.8 DOID:3892 MedDRA:10022498 SCTID:302822000 HP:0012197 NCIT:C95598 GARD:0003010" MONDO:0000549 "A relatively uncommon neuroblastoma that is found in the neck." "DOID:0050935" -MONDO:0001339 "The formation of a blood clot (thrombus) in the portal vein." "ICD10:I81 DOID:11695 SCTID:17920008 UMLS:C0155773 ICD9:452 NCIT:C78565" +MONDO:0001339 "The formation of a blood clot (thrombus) in the portal vein." "ICD10CM:I81 DOID:11695 SCTID:17920008 UMLS:C0155773 ICD9:452 NCIT:C78565" UBERON:0001676 MONDO:0003628 "A disease involving the pulmonary valve." "SCTID:76267008 NCIT:C78579 UMLS:C0034087 ICD9:424.3 DOID:5749" http://identifiers.org/hgnc/8104 @@ -5129,7 +5126,7 @@ MONDO:0020515 MONDO:0020785 "OMIM:618196" HP:0001322 UBERON:0010905 -MONDO:0018336 "UMLS:CN225933 ICD10:Q87.1 Orphanet:397590" +MONDO:0018336 "ICD10CM:Q87.1 UMLS:CN225933 Orphanet:397590" MONDO:0006066 "A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm." "UMLS:C1515863 NCIT:C39882 EFO:1000064" UBERON:0018303 UBERON:0000474 @@ -5137,11 +5134,11 @@ MONDO:0014513 "Any nemaline myopathy in which the cause of the disease is a muta http://identifiers.org/hgnc/30972 MONDO:0000023 "UMLS:CN228161 Orphanet:464724 OMIMPS:615438" UBERON:0036657 -MONDO:0013467 "OMIM:613860 ICD10:D84.1 UMLS:C3151226 SCTID:766705006 Orphanet:331190" +MONDO:0013467 "ICD10CM:D84.1 OMIM:613860 UMLS:C3151226 SCTID:766705006 Orphanet:331190" MONDO:0000289 http://identifiers.org/hgnc/27337 -MONDO:0008847 "Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." "OMIM:209500 Orphanet:86819 MESH:C565924 SCTID:715963002 DOID:0060689 UMLS:C1859592 ICD10:L65.8" -MONDO:0004978 "In the same amount or manner; to the same degree; in the role, function, or capacity of." "EFO:0000266 DOID:1712 OMIM:109730 Orphanet:402075 NCIT:C64938 ICD9:395.0 UMLS:C0155567 OMIM:614823 ICD9:746.3 ICD10:I06.0 ICD10:Q23.0 NCIT:C50462" +MONDO:0008847 "Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." "OMIM:209500 Orphanet:86819 MESH:C565924 SCTID:715963002 DOID:0060689 UMLS:C1859592 ICD10CM:L65.8" +MONDO:0004978 "In the same amount or manner; to the same degree; in the role, function, or capacity of." "EFO:0000266 DOID:1712 OMIM:109730 Orphanet:402075 NCIT:C64938 ICD9:395.0 UMLS:C0155567 OMIM:614823 ICD9:746.3 NCIT:C50462" MONDO:0020204 "A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma." "NCIT:C2961 Orphanet:98616" MONDO:0000793 "OBSOLETE. A allergy involving a Oncorhynchus mykiss." "DOID:0060518" PATO:0001025 "A physical quality that inheres in a bearer by virtue of the bearer's amount of force per unit area it exerts." @@ -5150,8 +5147,8 @@ GO:0106064 "Any process that modulates the frequency, rate or extent of the chem MONDO:0015294 "Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease." "MESH:D054989 MedDRA:10067467 SCTID:424114000 EFO:1001814 GARD:0009725 Orphanet:137617 UMLS:C1619692 NCIT:C84920 UMLS:C3888044 ICD9:588.89" MONDO:0001486 MONDO:0020786 "OMIM:618591" -MONDO:0005379 "A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears." "SCTID:111475002 ICD10:F34.1 NCIT:C34848 DOID:4964 ICD10:F48.9 MESH:D009497 EFO:0004257 ICD9:300.9 ICD9:300.89 MESH:D000275" -MONDO:0018337 "Orphanet:397593 OMIM:615595 ICD10:E88.8" +MONDO:0005379 "A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears." "SCTID:111475002 NCIT:C34848 DOID:4964 MESH:D009497 EFO:0004257 ICD9:300.9 ICD9:300.89 MESH:D000275" +MONDO:0018337 "OMIM:615595 Orphanet:397593 ICD10CM:E88.8" MONDO:0010707 "MESH:C538101 UMLS:C1412041 GARD:0009780 OMIM:311400" UBERON:0000475 MONDO:0003883 @@ -5160,34 +5157,34 @@ MONDO:0003894 "A melanotic schwannoma that affects the mediastinum." "NCIT:C6635 MONDO:0018815 "A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage." "HP:0012063 OMIM:606179 SCTID:203468000 ICD9:733.22 Orphanet:480553 NCIT:C3516 GARD:0008646" UBERON:0036658 MONDO:0000288 "DOID:0050218" -MONDO:0016835 "14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate." "Orphanet:261229 UMLS:CN202171 ICD10:Q92.3" +MONDO:0016835 "14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate." "Orphanet:261229 UMLS:CN202171" PATO:0002027 http://identifiers.org/hgnc/795 -MONDO:0013860 "Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function." "NCIT:C123060 UMLS:C0086445 ICD10:N04.2 GARD:0009180 SCTID:722119002 OMIM:614692 Orphanet:97560" +MONDO:0013860 "Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function." "NCIT:C123060 UMLS:C0086445 GARD:0009180 ICD10CM:N04.2 SCTID:722119002 OMIM:614692 Orphanet:97560" CHEBI:51269 "Polycyclic aromatic hydrocarbons consisting of fused benzene rings in a rectilinear arrangement and their substitution derivatives." MONDO:0019798 CL:0000737 "Muscle cell which has as its direct parts myofilaments organized into sarcomeres." "BTO:0002916 CALOHA:TS-2157 FMA:86936" MONDO:0011905 MONDO:0016439 "Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery." "ICD9:701.8 GARD:0012716 SCTID:238832003 UMLS:C0406555 Orphanet:228240" -MONDO:0010353 "Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome." "OMIM:300519 Orphanet:85321 SCTID:721087008 MESH:C564495 ICD10:Q87.8 DOID:0060830" +MONDO:0010353 "Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome." "OMIM:300519 Orphanet:85321 SCTID:721087008 MESH:C564495 ICD10CM:Q87.8 DOID:0060830" CHEBI:78616 "Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula Cm(H2O)n; carbohydrate derivatives may contain other elements by substitution or condensation." -MONDO:0015054 "Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "ICD10:D84.1 Orphanet:100051 OMIM:106100 UMLS:C1862892" -MONDO:0020521 "ICD10:Q79.6 Orphanet:99875 UMLS:CN207418 OMIM:130060" +MONDO:0015054 "Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "ICD10CM:D84.1 Orphanet:100051 OMIM:106100 UMLS:C1862892" +MONDO:0020521 "Orphanet:99875 UMLS:CN207418 OMIM:130060 ICD10CM:Q79.6" MONDO:0020787 "OMIM:616418" MONDO:0012006 "UMLS:C1842316 OMIM:608279 MESH:C564263" -MONDO:0012354 "P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." "ICD10:D69.8 MESH:C565220 Orphanet:36355 SCTID:725291001 UMLS:C1853278 OMIM:609821 GARD:0012478 DOID:0060692" -MONDO:0001148 "A thrombophlebitis that involves the iliac vein." "SCTID:42861008 DOID:10880 ICD10:I80.21 ICD9:451.81 UMLS:C0347887" +MONDO:0012354 "P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." "MESH:C565220 Orphanet:36355 SCTID:725291001 UMLS:C1853278 OMIM:609821 GARD:0012478 DOID:0060692 ICD10CM:D69.8" +MONDO:0001148 "A thrombophlebitis that involves the iliac vein." "SCTID:42861008 DOID:10880 ICD9:451.81 UMLS:C0347887" UBERON:0002871 -MONDO:0009000 "Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules." "ICD10:L87.1 UMLS:C1857624 MESH:C565687 OMIM:216700 GARD:0013331 Orphanet:79147" +MONDO:0009000 "Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules." "UMLS:C1857624 MESH:C565687 ICD10CM:L87.1 OMIM:216700 GARD:0013331 Orphanet:79147" MONDO:0037252 "An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported." "ICDO:8600/0 NCIT:C3405 MESH:D013798" MONDO:0000287 MONDO:0006029 "A carcinoma that arises from epithelial cells of the caecum" "EFO:1000021 SCTID:255081007 UMLS:C0149640 DOID:1519 NCIT:C3491" MONDO:0004273 "A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia." "NCIT:C40383 UMLS:C1388299 DOID:7540" CHEBI:76857 "An EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor that interferes with the action of any such enzyme using NAD(+) or NADP(+) as acceptor (EC 1.3.1.*)." -MONDO:0013423 "Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic." "MESH:C565360 UMLS:C3151085 ICD10:D84.1 Orphanet:331187 OMIM:613791" +MONDO:0013423 "Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic." "MESH:C565360 UMLS:C3151085 Orphanet:331187 OMIM:613791 ICD10CM:D84.1" UBERON:0015808 HP:0009804 "The absence of one or more teeth from the normal series by a failure\nto develop" "UMLS:C4024202 UMLS:C4083050" -MONDO:0006551 "A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma." "NCIT:C82859 ICD9:704.09 DOID:9905 UMLS:C0002173 SCTID:27382006 ICD10:L65.2 PMID:24350019 MESH:D000507 EFO:1000701" +MONDO:0006551 "A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma." "NCIT:C82859 ICD9:704.09 DOID:9905 UMLS:C0002173 SCTID:27382006 PMID:24350019 ICD10CM:L65.2 MESH:D000507 EFO:1000701" http://identifiers.org/hgnc/794 GO:0045806 "Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis." MONDO:0020788 "OMIM:618314" @@ -5195,10 +5192,10 @@ GO:0062012 "Any process that modulates the rate, frequency or extent of a small UBERON:0001673 GO:0060049 "Any process that modulates the frequency, rate or extent of protein glycosylation. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins." MONDO:0000021 -MONDO:0014402 "UMLS:C4014700 Orphanet:363400 OMIM:615924 ICD10:G31.8" +MONDO:0014402 "UMLS:C4014700 Orphanet:363400 ICD10CM:G31.8 OMIM:615924" MONDO:0012186 "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein." "MESH:C563802 NCIT:C129026 DOID:0111091 UMLS:C1836861 OMIM:609053" -MONDO:0002186 "Acute form of maxillary sinusitis." "DOID:2050 ICD10:J01.0 UMLS:C0155804 ICD10:J01.00 SCTID:68272006 ICD9:461.0" -MONDO:0020522 "MESH:C565061 GTR:AN1112965 OMIM:130060 ICD10:Q79.6 UMLS:CN706304 Orphanet:99876 GTR:AN1112503 GTR:AN1112966 GTR:AN1112967 UMLS:C1851801" +MONDO:0002186 "Acute form of maxillary sinusitis." "DOID:2050 UMLS:C0155804 ICD10CM:J01.0 SCTID:68272006 ICD9:461.0" +MONDO:0020522 "MESH:C565061 GTR:AN1112965 OMIM:130060 UMLS:CN706304 Orphanet:99876 GTR:AN1112503 GTR:AN1112966 ICD10CM:Q79.6 GTR:AN1112967 UMLS:C1851801" CL:0000175 "A progesterone secreting cell in the corpus luteum. The large luteal cells develop from the granulosa cells. The small luteal cells develop from the theca cells." "FMA:18688 BTO:0003939" MONDO:0012005 "UMLS:C1842321 OMIM:608278 MESH:C564264" NCBITaxon:85604 "GC_ID:1" @@ -5206,53 +5203,53 @@ GO:1903039 "Any process that activates or increases the frequency, rate or exten HsapDv:0000139 "Middle aged stage that refers to an adult who is over 45 and under 46." MONDO:0018335 FOODON:03315150 "SUBSET_SIREN:F15150" -MONDO:0001036 "An accumulation of pus in the anterior chamber of the eye." "DOID:10443 ICD10:H20.05 ICD9:364.05 SCTID:87807004 NCIT:C50593 UMLS:C0020641" -MONDO:0009719 "UMLS:C1850635 ICD10:D15.1 GARD:0000139 MESH:C538262 Orphanet:615 SCTID:233855002 OMIM:255960" +MONDO:0001036 "An accumulation of pus in the anterior chamber of the eye." "DOID:10443 ICD9:364.05 SCTID:87807004 NCIT:C50593 UMLS:C0020641" +MONDO:0009719 "UMLS:C1850635 GARD:0000139 MESH:C538262 Orphanet:615 ICD10CM:D15.1 SCTID:233855002 OMIM:255960" UBERON:0000473 UBERON:0009906 GO:0009070 "The chemical reactions and pathways resulting in the formation of amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine." UBERON:0036656 -MONDO:0012548 "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients." "GARD:0000302 UMLS:CN032247 OMIM:610738 ICD10:D70 Orphanet:99749" -MONDO:0018076 "A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use." "ICD9:017.96 MESH:D014376 NCIT:C3423 ICD9:017.94 ICD9:017.92 Orphanet:3389 MedDRA:10044755 DOID:399 OMIM:607948 SCTID:56717001 GARD:0007827 ICD9:017.90 UMLS:C0151332 UMLS:C0041296 ICD10:A15.A19" +MONDO:0012548 "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients." "GARD:0000302 UMLS:CN032247 OMIM:610738 Orphanet:99749 ICD10CM:D70" +MONDO:0018076 "A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use." "ICD9:017.96 ICD10CM:A15-A19 MESH:D014376 NCIT:C3423 ICD9:017.94 ICD9:017.92 Orphanet:3389 MedDRA:10044755 DOID:399 OMIM:607948 SCTID:56717001 GARD:0007827 ICD9:017.90 UMLS:C0151332 UMLS:C0041296" MONDO:0043264 "Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)" "UMLS:C0751126 GARD:0007437 MESH:D004834 SCTID:75023009" MONDO:0000020 MONDO:0020789 "OMIM:251290" -MONDO:0018332 "Orphanet:394529 UMLS:CN205004 ICD10:E71.3" -MONDO:0001548 "A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)" "ICD9:070.42 ICD10:K72.91 UMLS:C0019147 SCTID:72836002 DOID:12550 MESH:D006501" +MONDO:0018332 "Orphanet:394529 UMLS:CN205004 ICD10CM:E71.3" +MONDO:0001548 "A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)" "ICD9:070.42 UMLS:C0019147 SCTID:72836002 DOID:12550 MESH:D006501" MONDO:0014625 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene." "UMLS:C4225337 OMIM:616409 DOID:0080463" MONDO:0024480 "UMLS:C1274150 SCTID:402700001" MONDO:0017018 "Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative." "Orphanet:264691 UMLS:C3873357 ICD9:448.9 SCTID:707436001" MONDO:0020781 "OMIM:617186 Orphanet:555407 EFO:0009158" -MONDO:0007352 "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." "UMLS:C1852759 SCTID:446449009 MESH:C537168 NCIT:C123230 GARD:0004106 Orphanet:1475 DOID:0090006 ICD10:Q60.4 ICD9:759.89 OMIM:120330" +MONDO:0007352 "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." "UMLS:C1852759 ICD10CM:Q60.4 SCTID:446449009 MESH:C537168 NCIT:C123230 GARD:0004106 Orphanet:1475 DOID:0090006 ICD9:759.89 OMIM:120330" MONDO:0000004 "An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency)." "SCTID:386584007 MESH:D000309 NCIT:C26691 DOID:10493 ICD9:255.4 ICD9:255.41 GARD:0006722 UMLS:C0405580" -MONDO:0015839 "SCTID:22504001 Orphanet:180122 MedDRA:10062606 ICD10:Q51.2" +MONDO:0015839 "SCTID:22504001 Orphanet:180122 MedDRA:10062606 ICD10CM:Q51.2" MONDO:0001483 CHEBI:137419 "An organic cation obtained by protonation of any secondary amino compound; major species at pH 7.3." MONDO:0021720 CHEBI:35442 "A substance used to treat or prevent parasitic infections." MONDO:0011121 "Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene." "Orphanet:29072 OMIM:601650 MESH:C566646 GARD:0010544" MONDO:0013205 "OMIM:613269 UMLS:C2750449 Orphanet:98974" -MONDO:0011971 "Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene." "OMIM:608106 Orphanet:101092 DOID:0060759 Orphanet:183666 ICD10:D80.5 GARD:0010581" +MONDO:0011971 "Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene." "OMIM:608106 ICD10CM:D80.5 Orphanet:101092 DOID:0060759 Orphanet:183666 GARD:0010581" MONDO:0006463 "A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent." "DOID:4687 EFO:1000590 UMLS:C1513721 NCIT:C38762" MONDO:0000285 MONDO:0005730 "Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation." "UMLS:C0012118 MESH:D004022 EFO:0007235" PO:0025477 "A primordium (PO:0025127) that is committed to the development of a floral organ (PO:0025395) and is part of a reproductive shoot apex (PO:0025222)." "PO_GIT:465" -MONDO:0018333 "UMLS:CN205005 ICD10:E71.3 Orphanet:394532" -MONDO:0018599 "ICD10:Q07.8 Orphanet:440221" +MONDO:0018333 "UMLS:CN205005 ICD10CM:E71.3 Orphanet:394532" +MONDO:0018599 "ICD10CM:Q07.8 Orphanet:440221" UBERON:0000471 MONDO:0012007 "UMLS:C1842315 OMIM:608281 MESH:C564262" MONDO:0014404 "Orphanet:370006 OMIM:615926 UMLS:C4014708" IAO:0000007 "A directive information entity that describes an action the bearer will take."@en -MONDO:0015838 "Orphanet:180118 SCTID:14689000 ICD10:Q51.3" +MONDO:0015838 "Orphanet:180118 ICD10CM:Q51.3 SCTID:14689000" NCBITaxon:2172821 "GC_ID:1" -MONDO:0003757 "Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord." "UMLS:C0030486 ICD10:G82.20 MESH:D010264 ICD10:G82.2 DOID:607 GARD:0007327 SCTID:60389000 NCIT:C50687 ICD9:344.1" +MONDO:0003757 "Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord." "UMLS:C0030486 MESH:D010264 DOID:607 GARD:0007327 SCTID:60389000 NCIT:C50687 ICD9:344.1" MONDO:0002652 "An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis." "SCTID:423607006 NCIT:C5600 DOID:3447 UMLS:C1332257" MONDO:0041154 "SCTID:236644005" UBERON:0015807 -MONDO:0011524 "Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." "MESH:C535950 ICD10:D47.9 GARD:0009797 Orphanet:275523 SCTID:721093000 UMLS:C2931071 OMIM:605233" -MONDO:0019794 "ICD10:G11.8 UMLS:CN229225 Orphanet:94149" +MONDO:0011524 "Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly." "MESH:C535950 GARD:0009797 Orphanet:275523 SCTID:721093000 UMLS:C2931071 OMIM:605233 ICD10CM:D47.9" +MONDO:0019794 "ICD10CM:G11.8 UMLS:CN229225 Orphanet:94149" CHEBI:33703 -MONDO:0015837 "Orphanet:180114 ICD10:Q51.3" +MONDO:0015837 "Orphanet:180114 ICD10CM:Q51.3" http://identifiers.org/hgnc/791 MONDO:0012154 "Any myopia in which the cause of the disease is a mutation in the SCO2 gene." "MESH:C536105 GARD:0009937 OMIM:608908 Orphanet:98619" NCIT:C12922 @@ -5260,21 +5257,21 @@ MONDO:0000284 "DOID:0050201 UMLS:C0242993" MFOMD:0000109 "\nAn intrusive and repetitive thought or image that produce anxiety.\n\n\n\"Understanding abnormal behavior\". David Sue, Derald Wing Sue, Stanley Sue." MONDO:0003351 "An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells." "UMLS:C1333093 DOID:5259 NCIT:C5494" CL:0009025 "A mesothelial cell that is part of the colon." -MONDO:0013329 "17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." "ICD10:Q66.8 Orphanet:238578 UMLS:C3150880 OMIM:613618 Orphanet:199315" +MONDO:0013329 "17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." "Orphanet:238578 UMLS:C3150880 OMIM:613618 ICD10CM:Q66.8 Orphanet:199315" GO:0051240 "Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs." -MONDO:0010881 "A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." "ICD10:Q74.8 GARD:0004302 OMIM:600383 SCTID:724147004 UMLS:C1838162 MESH:C537348 Orphanet:2496" +MONDO:0010881 "A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." "GARD:0004302 OMIM:600383 SCTID:724147004 UMLS:C1838162 ICD10CM:Q74.8 MESH:C537348 Orphanet:2496" HP:0009145 "Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery." "UMLS:C4021520" MONDO:0002938 "A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma." "SCTID:254702000 ICDO:8095/3 DOID:4281 NCIT:C66903" MONDO:0020783 "OMIM:608354" MONDO:0021568 "A disease that involves the renal tubule." "UMLS:C0151747 ICD9:588.89 SCTID:95568003" MONDO:0002062 "A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass." "UMLS:C1511320 NCIT:C40397 DOID:1629" -MONDO:0013898 "Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene." "ICD10:N11.8 DOID:0060911 UMLS:C3553774 OMIM:614817 GARD:0011003 Orphanet:401996" +MONDO:0013898 "Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene." "Orphanet:401996 DOID:0060911 UMLS:C3553774 ICD10CM:N11.8 OMIM:614817 GARD:0011003" MONDO:0017132 "Orphanet:271861 UMLS:CN227096" -MONDO:0015836 "Orphanet:180111 ICD10:Q51.1" +MONDO:0015836 "Orphanet:180111 ICD10CM:Q51.1" MONDO:0001493 "Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure." "UMLS:C0238074 DOID:12326 SCTID:87837008 ICD9:416.9 ICD9:416.8 NCIT:C34478" BFO:0000141 MONDO:0013207 "OMIM:613271 UMLS:C2750447 Orphanet:98974" -MONDO:0001139 "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer." "DOID:10849 ICD9:302.83 NCIT:C94356 ICD10:F65.51 SCTID:51239001 MESH:D008398" +MONDO:0001139 "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer." "DOID:10849 ICD9:302.83 NCIT:C94356 SCTID:51239001 ICD10CM:F65.51 MESH:D008398" MONDO:0005583 "A disease that occurs in animals." "EFO:0005932 UMLS:C0003047 MESH:D000820" MONDO:0000283 "DOID:0050200" CHR:9606-chr9q31.1-q31.3 @@ -5282,37 +5279,37 @@ MONDO:0004501 "A rare, benign, asymptomatic neoplasm that arises from the fallop GO:0042158 "The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids." GO:2000225 "Any process that stops, prevents, or reduces the frequency, rate or extent of testosterone biosynthetic process." MONDO:0020784 "OMIM:612975" -MONDO:0015516 "Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails." "ICD10:Q73.8 Orphanet:1570" +MONDO:0015516 "Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails." "ICD10CM:Q73.8 Orphanet:1570" MONDO:0018331 GO:1904479 "Any process that stops, prevents or reduces the frequency, rate or extent of intestinal absorption." MONDO:0012009 "UMLS:C1842260 OMIM:608316" -MONDO:0003648 "A disease involving the tympanic membrane." "DOID:5782 ICD10:H73.9 SCTID:21426000 ICD10:H73.90 ICD9:384.9 UMLS:C0041825" +MONDO:0003648 "A disease involving the tympanic membrane." "DOID:5782 SCTID:21426000 ICD9:384.9 UMLS:C0041825" GO:0048638 "Any process that modulates the frequency, rate or extent of developmental growth." -MONDO:0007033 "Paralysis of the abducens nerve." "SCTID:398963001 GARD:0009482 OMIM:100200 DOID:10865 NCIT:C27592 ICD9:378.54 ICD10:H49.2" -MONDO:0001480 "UMLS:C0153595 ICD10:C62.0 DOID:12276 SCTID:188219004 ICD9:186.0" +MONDO:0007033 "Paralysis of the abducens nerve." "SCTID:398963001 GARD:0009482 OMIM:100200 DOID:10865 NCIT:C27592 ICD9:378.54" +MONDO:0001480 "UMLS:C0153595 DOID:12276 SCTID:188219004 ICD9:186.0" MONDO:0000424 "Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement." "DOID:0050731 EFO:0000734" -MONDO:0018951 "Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." "GARD:0001887 OMIM:606070 Orphanet:600 ICD10:G71.0 UMLS:CN205357" +MONDO:0018951 "Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." "GARD:0001887 OMIM:606070 Orphanet:600 ICD10CM:G71.0 UMLS:CN205357" MONDO:0005395 "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement." "ICD9:333.99 DOID:480 EFO:0004280 ICD9:333.90 MESH:D009069 SCTID:60342002 NCIT:C116757" PATO:0001591 "A surface shape quality inhering in a bearer by virtue of the bearer's exhibiting a degree of bending." -MONDO:0018325 "Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age." "Orphanet:391497 ICD10:G70.0" +MONDO:0018325 "Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age." "Orphanet:391497 ICD10CM:G70.0" MONDO:0017133 -MONDO:0008797 "Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." "OMIM:206780 DOID:13714 Orphanet:99797 MESH:D000848 MedDRA:10002583 GARD:0005818 SCTID:16958000 ICD9:520.0 ICD10:K00.0" +MONDO:0008797 "Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." "OMIM:206780 DOID:13714 Orphanet:99797 MESH:D000848 MedDRA:10002583 GARD:0005818 SCTID:16958000 ICD9:520.0 ICD10CM:K00.0" MONDO:0013208 "OMIM:613280 MESH:C548016 GARD:0010706 DOID:0080536 SCTID:702377007 ICD9:277.89 UMLS:CN035550 Orphanet:309854" MONDO:0018334 "Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours." "UMLS:C0744898 Orphanet:396 HP:0100247 GARD:0006657 SCTID:716771000 UMLS:CN205022" -MONDO:0015835 "Orphanet:180106 ICD10:Q51.1" +MONDO:0015835 "Orphanet:180106 ICD10CM:Q51.1" MONDO:0014737 "Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene." "DOID:0111577 UMLS:C4225242 OMIM:616689" -MONDO:0018843 "A embryonal carcinoma that involves the central nervous system." "ONCOTREE:BEC NCIT:C7010 DOID:7232 Orphanet:48736 ICD10:C71.9 UMLS:C1333377" +MONDO:0018843 "A embryonal carcinoma that involves the central nervous system." "ONCOTREE:BEC NCIT:C7010 ICD10CM:C71.9 DOID:7232 Orphanet:48736 UMLS:C1333377" MONDO:0004721 "A benign or malignant epithelial neoplasm that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of benign epithelial neoplasms include hepatocellular adenoma and intrahepatic bile duct adenoma. Representative examples of malignant epithelial neoplasms include hepatocellular carcinoma and intrahepatic cholangiocarcinoma." "EFO:1001513 UMLS:C0023903 ONCOTREE:LIVER NCIT:C7103 DOID:916 NCIT:C7106 SCTID:126851005 UMLS:C1333976" UBERON:0005109 -MONDO:0001280 "An inflammatory process that affects the choroid." "ICD10:H30.8 UMLS:C0042167 UMLS:C0008526 HP:0012123 MESH:D002833 DOID:11406 NCIT:C35111 ICD10:H30.1 ICD10:H30.9 ICD10:H30.2 MedDRA:10036370 SCTID:16553002 ICD10:H30.0 Orphanet:280892 GARD:0006062" -MONDO:0011064 "ICD10:Q77.8 GARD:0003226 UMLS:C1832410 Orphanet:1421 OMIM:601376 MESH:C563330" +MONDO:0001280 "An inflammatory process that affects the choroid." "UMLS:C0042167 Orphanet:280892 HP:0012123 DOID:11406 UMLS:C0008526 ICD10CM:H30.0 SCTID:16553002 NCIT:C35111 ICD10CM:H30.8 ICD10CM:H30.9 MESH:D002833 MedDRA:10036370 ICD10CM:H30.2 ICD10CM:H30.1 GARD:0006062" +MONDO:0011064 "GARD:0003226 UMLS:C1832410 Orphanet:1421 OMIM:601376 MESH:C563330 ICD10CM:Q77.8" GO:0051094 "Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult)." MONDO:0044750 "UMLS:C1617072 SCTID:721779001" -MONDO:0015464 "Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far." "Orphanet:1521 ICD10:Q87.8 UMLS:CN199598 SCTID:720757001" +MONDO:0015464 "Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far." "Orphanet:1521 UMLS:CN199598 SCTID:720757001 ICD10CM:Q87.8" MONDO:0006884 "Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture." "EFO:1001081 MedDRA:10033683 MESH:D010202 ICD9:360.02 UMLS:C0030332 SCTID:33382000 DOID:13732" -MONDO:0006044 "Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia." "ICD10:N26.9 GARD:0007179 EFO:1000041 ICD10:I12 ICD9:587 DOID:11664 SCTID:32916005 UMLS:C0027719 MESH:D009400" +MONDO:0006044 "Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia." "GARD:0007179 EFO:1000041 ICD9:587 DOID:11664 SCTID:32916005 UMLS:C0027719 MESH:D009400" MONDO:0019506 "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established." "SCTID:722051004 UMLS:CN227640 Orphanet:88643" -MONDO:0010775 "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome." "UMLS:C1568248 ICD10:H35.5 DOID:0110829 Orphanet:231183 OMIM:500004 Orphanet:886 SCTID:57838006 UMLS:CN033130 GARD:0004684 UMLS:C0271097" +MONDO:0010775 "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome." "UMLS:C1568248 DOID:0110829 Orphanet:231183 OMIM:500004 Orphanet:886 SCTID:57838006 UMLS:CN033130 GARD:0004684 UMLS:C0271097" http://identifiers.org/hgnc/23639 HP:0012531 "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." "MSH:D010146 SNOMEDCT_US:22253000 UMLS:C0030193" MONDO:0042493 "An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." "SCTID:448709005 UMLS:C1333784 NCIT:C27235 GARD:0000089" @@ -5321,30 +5318,29 @@ GO:0007605 "The series of events required for an organism to receive an auditory UBERON:0006306 MONDO:0012261 "OMIM:609378 UMLS:C1836271" MONDO:0014884 "Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene." "UMLS:CN776839 OMIM:617049 UMLS:C4310747 DOID:0070225 Orphanet:480476" -MONDO:0004773 "An inflammation of the iris and the ciliary body" "UMLS:C0022073 ICD9:364.01 ICD10:H20.01 SCTID:77971008 ICD9:364.2 ICD9:364.3 HP:0001094 NCIT:C34736 DOID:9383" +MONDO:0004773 "An inflammation of the iris and the ciliary body" "UMLS:C0022073 ICD9:364.01 SCTID:77971008 ICD9:364.2 ICD9:364.3 HP:0001094 NCIT:C34736 DOID:9383" MONDO:0007581 "OMIM:133500 MESH:C565036 UMLS:C1851463" CHEBI:26836 "A sulfur oxoacid that consists of two oxo and two hydroxy groups joined covalently to a central sulfur atom." UBERON:2001950 http://identifiers.org/hgnc/1908 GO:0045893 "Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription." -MONDO:0003625 CHR:9606-chrXp11 -MONDO:0001228 "SCTID:41308008 DOID:11219 UMLS:C0155143 ICD10:H10.01 ICD9:372.02" +MONDO:0001228 "SCTID:41308008 DOID:11219 UMLS:C0155143 ICD9:372.02" GO:0005996 "The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides." UBERON:0007503 CL:0002103 "An IgG-positive double negative memory B cell is a double negative memory B cell with the phenotype IgG-positive, IgD-negative, and CD27-negative." HP:0002014 "Abnormally increased frequency of loose or watery bowel movements." "UMLS:C0011991 SNOMEDCT_US:267060006 SNOMEDCT_US:62315008 MSH:D003967" GO:0051560 "Any process involved in the maintenance of an internal steady state of calcium ions within the cytoplasm of a cell or between mitochondria and their surroundings." MONDO:0012262 "Orphanet:45358 UMLS:C2750404 OMIM:609384 MESH:C567666" -MONDO:0011906 "Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption." "DOID:0111071 MESH:C535442 Orphanet:79301 GARD:0009813 OMIM:607765 ICD10:K76.8" +MONDO:0011906 "Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption." "DOID:0111071 MESH:C535442 Orphanet:79301 GARD:0009813 ICD10CM:K76.8 OMIM:607765" MONDO:0006384 MONDO:0001953 "The presence of excessive white blood cells in the urine as determined by urinalysis." "NCIT:C119028 MESH:D011776 HP:0012085 DOID:1439" CHR:9606-chr16p1 MONDO:0006999 "A disease involving the calcareous tooth." "UMLS:C0040435 NCIT:C35077 SCTID:234947003 DOID:1091 EFO:1001216 MESH:D014076" -MONDO:0005292 "Inflammation of the colon." "ICD9:558.9 EFO:0003872 MESH:D003092 NCIT:C26723 SCTID:64226004 ICD10:K52.9 DOID:0060180 OMIM:191390 HP:0002583 UMLS:C0009319" +MONDO:0005292 "Inflammation of the colon." "ICD9:558.9 ICD10CM:K50-K52 EFO:0003872 MESH:D003092 NCIT:C26723 SCTID:64226004 DOID:0060180 OMIM:191390 HP:0002583 UMLS:C0009319" MONDO:0007582 -MONDO:0010146 "A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy." "Orphanet:499 OMIM:275240 SCTID:19087001 GARD:0003109 UMLS:C0276742 ICD10:B35.0" -MONDO:0009673 "Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "OMIM:253550 DOID:0050530 SCTID:128212001 MESH:C536879 ICD10:G12.1 Orphanet:70 GARD:0004945 Orphanet:83418 ICD9:335.19" +MONDO:0010146 "A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy." "Orphanet:499 OMIM:275240 ICD10CM:B35.0 SCTID:19087001 GARD:0003109 UMLS:C0276742" +MONDO:0009673 "Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "MESH:C536879 Orphanet:83418 ICD10CM:G12.1 Orphanet:70 ICD9:335.19 GARD:0004945 DOID:0050530 SCTID:128212001 OMIM:253550" MONDO:0010968 "MESH:C536824 Orphanet:156005 Orphanet:98976 UMLS:C1832977 OMIM:600975 GARD:0002490" GO:0051345 "Any process that activates or increases the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds." MONDO:0007583 "MESH:C563167 OMIM:133600 UMLS:C0877431" @@ -5355,7 +5351,7 @@ http://identifiers.org/hgnc/25198 MONDO:0004823 MONDO:0021643 "A varicose disease that involves the mesentery." "SCTID:22949006 HP:0002626" MONDO:0012263 "OMIM:609400" -MONDO:0012549 "A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations." "UMLS:C1853116 UMLS:C3683483 OMIM:610743 GARD:0012234 DOID:0111618 ICD10:G11.2 Orphanet:88644" +MONDO:0012549 "A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations." "UMLS:C1853116 UMLS:C3683483 ICD10CM:G11.2 OMIM:610743 GARD:0012234 DOID:0111618 Orphanet:88644" MONDO:0011900 "UMLS:C1843180 Orphanet:79152 OMIM:607728" GO:0060054 "Any process that activates or increases the rate or extent of epithelial cell proliferation, contributing to the restoration of integrity to a damaged tissue following an injury." MONDO:0043653 "A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region." "UMLS:C0019345 NCIT:C34695 EFO:1001347 SCTID:1475003 MESH:D006560" @@ -5373,10 +5369,10 @@ GO:0009991 "Any process that results in a change in state or activity of a cell MONDO:0024327 "Impairment of the renal function due to chronic kidney damage." "ICD9:585.9 SCTID:90688005 MESH:D051436 UMLS:C0022661 NCIT:C9438" MONDO:0003623 UBERON:0007501 -MONDO:0012654 "Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene." "MESH:C566963 Orphanet:1478 OMIM:611363 ICD10:Q21.1 UMLS:C1969657 DOID:0110109" +MONDO:0012654 "Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene." "MESH:C566963 Orphanet:1478 OMIM:611363 UMLS:C1969657 DOID:0110109" MONDO:0014660 "OMIM:616486 Orphanet:2512 UMLS:C4225310 DOID:0070277" MONDO:0012264 "Orphanet:275555 OMIM:609402 UMLS:C1836257" -MONDO:0015609 "Familial advanced sleep-phase syndrome (FASPS) is a very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions." "OMIM:616882 DOID:0050628 SCTID:715829003 Orphanet:164736 ICD10:G47.2 OMIMPS:604348 GARD:0009242 OMIM:615224 OMIM:604348" +MONDO:0015609 "Familial advanced sleep-phase syndrome (FASPS) is a very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions." "OMIM:616882 DOID:0050628 ICD10CM:G47.2 Orphanet:164736 SCTID:715829003 OMIMPS:604348 GARD:0009242 OMIM:615224 OMIM:604348" MONDO:0000028 UBERON:0006569 http://identifiers.org/hgnc/30718 @@ -5386,15 +5382,15 @@ MONDO:0010700 "MESH:C564084 OMIM:311100 UMLS:C1839565" NCBITaxon:13203 "PMID:9835021 GC_ID:1" MONDO:0006990 "Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia." "MESH:D015829 EFO:1001203 UMLS:C0042168 DOID:13140" CL:2000021 "Any native cell that is part of a sebaceous gland." -MONDO:0008388 "Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." "OMIM:180600 SCTID:21926007 MESH:C537187 GARD:0004359 UMLS:C0263489 ICD10:Q84.1 Orphanet:169" +MONDO:0008388 "Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases." "OMIM:180600 SCTID:21926007 MESH:C537187 GARD:0004359 UMLS:C0263489 Orphanet:169 ICD10CM:Q84.1" NCBITaxon:11908 "GC_ID:1" MONDO:0032758 "OMIM:618451" -MONDO:0100249 "46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." "UMLS:CN205000 DOID:0111760 ICD10:Q99.1 OMIM:278850 Orphanet:393 MESH:D058531 UMLS:C2936419 NCIT:C127170 UMLS:C2748895 GARD:0000399 OMIM:300833" +MONDO:0100249 "46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." "UMLS:CN205000 DOID:0111760 OMIM:278850 Orphanet:393 MESH:D058531 UMLS:C2936419 ICD10CM:Q99.1 NCIT:C127170 UMLS:C2748895 GARD:0000399 OMIM:300833" CL:0002422 "A reticulocyte lacking a nucleus and showing a basophilic reticulum under vital staining due to the presence of ribosomes." "CALOHA:TS-0864 FMA:66785" MONDO:0014661 "UMLS:C4225309 OMIM:616487" FOODON:03420174 "Anatomical part of a plant, such as fruit, seed, pod, leaf, stem or flower as well as the whole plant."@en -MONDO:0008234 "Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells." "NCIT:C3226 ICD10:E31.22 UMLS:C0025268 ICD9:258.02 Orphanet:653 Orphanet:247698 SCTID:721188000 DOID:0050430 OMIM:171400 UMLS:C1833921 ICD10:D44.8 MESH:D018813 SCTID:61808009 GARD:0004881" -MONDO:0002643 "Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls." "UMLS:C0042594 MESH:D015837 ICD10:H81 ICD10:H81.9 DOID:3426 ICD10:H81.90" +MONDO:0008234 "Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells." "NCIT:C3226 UMLS:C0025268 ICD9:258.02 Orphanet:653 Orphanet:247698 SCTID:721188000 DOID:0050430 OMIM:171400 UMLS:C1833921 MESH:D018813 ICD10CM:D44.8 SCTID:61808009 GARD:0004881" +MONDO:0002643 "Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls." "UMLS:C0042594 MESH:D015837 DOID:3426" MONDO:0012265 "UMLS:C1836256 Orphanet:275555 OMIM:609403" MONDO:0003996 "A disease involving the basal ganglia." "MESH:D001480 UMLS:C0004782 DOID:679 SCTID:70835005 ICD9:333.0 CSP:2057-3403" MONDO:0000027 @@ -5404,19 +5400,19 @@ NCBITaxon:11909 "GC_ID:1" MONDO:0009980 "MESH:C535638 OMIM:267900 UMLS:C2930961 GARD:0002383" MONDO:0008895 "Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints." "MESH:C565891 UMLS:C4305347 UMLS:C1859372 DOID:0111582 Orphanet:289601 SCTID:718602007 GARD:0010762 OMIM:211800" http://identifiers.org/hgnc/10484 -MONDO:0013099 "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy." "SCTID:718182008 OMIMPS:613038 GARD:0010602 OMIM:182230 ICD10:E23.0 OMIM:613038 GARD:0002252 OMIM:262600 OMIM:613986 Orphanet:95494 UMLS:C2751608" +MONDO:0013099 "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy." "SCTID:718182008 OMIMPS:613038 GARD:0010602 OMIM:182230 OMIM:613038 GARD:0002252 OMIM:262600 OMIM:613986 Orphanet:95494 ICD10CM:E23.0 UMLS:C2751608" MONDO:0009622 "Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated." "OMIM:251255 UMLS:C0796063 Orphanet:313795" GO:0030072 "The regulated release of a peptide hormone from a cell." MONDO:0004467 "A benign teratoma that arises from the stomach." "UMLS:C1334635 NCIT:C5260 DOID:8118" MONDO:0100093 "Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22." "OMIM:614937" -MONDO:0001568 "A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult)." "ICD10:F80.2 DOID:12685 NCIT:C92563 ICD9:315.32 SCTID:25766007" -MONDO:0006889 "A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene." "MESH:D010263 EFO:1001086 DOID:5334 MedDRA:10033890 NCIT:C34893 SCTID:13758004 UMLS:C0030483 ICD10:N47.2" +MONDO:0001568 "A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult)." "DOID:12685 NCIT:C92563 ICD10CM:F80.2 ICD9:315.32 SCTID:25766007" +MONDO:0006889 "A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene." "MESH:D010263 EFO:1001086 DOID:5334 MedDRA:10033890 NCIT:C34893 ICD10CM:N47.2 SCTID:13758004 UMLS:C0030483" MONDO:0011789 "A meningioma that is transmitted from the parents to an offspring." "DOID:4586 Orphanet:263662 MESH:C537443 NCIT:C5301 UMLS:C1333989 OMIM:607174" MONDO:0033954 "Orphanet:529468" UBERON:0005106 MONDO:0032757 "OMIM:618449" ENVO:01001122 "A planet which is primarily composed of hydrogen and helium." -MONDO:0017843 "A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation." "SCTID:18620009 ICD10:Q33.2 UMLS:C4020703 GARD:0004593 Orphanet:3161 MESH:D001998 NCIT:C97124" +MONDO:0017843 "A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation." "SCTID:18620009 UMLS:C4020703 GARD:0004593 Orphanet:3161 MESH:D001998 NCIT:C97124" MONDO:0023601 "A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement." "MESH:C537877 UMLS:C0342467 NCIT:C131442" MONDO:0007077 "Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." "GARD:0007772 MESH:C536919 UMLS:C0391816 Orphanet:42665 OMIM:103500 SCTID:403805009 ICD9:270.2 DOID:0090002" HP:0004364 "Any deviation from the normal concentration of a nitrogen compound in the blood circulation." "UMLS:C4025336" @@ -5428,16 +5424,16 @@ MONDO:0034054 "OMIM:618261 Orphanet:538958" GO:0042445 "The chemical reactions and pathways involving any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone." CHEBI:24471 http://identifiers.org/hgnc/10483 -MONDO:0011870 "Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." "Orphanet:281139 SCTID:718631006 UMLS:C1843463 OMIM:607602 Orphanet:312 ICD10:Q80.3 MESH:C564367" +MONDO:0011870 "Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." "Orphanet:281139 SCTID:718631006 ICD10CM:Q80.3 UMLS:C1843463 OMIM:607602 Orphanet:312 MESH:C564367" MONDO:0000548 "An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells." "NCIT:C40077 DOID:0050934 UMLS:C1518230" -MONDO:0005744 "A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum." "ICDO:9071/3 OMIM:273300 ICD10:C62.9 NCIT:C3011 ONCOTREE:BYST EFO:0007252 ICD10:C56 Orphanet:876 UMLS:C0014145 MedDRA:10048251 DOID:1911 SCTID:404081005" +MONDO:0005744 "A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum." "ICDO:9071/3 OMIM:273300 NCIT:C3011 ONCOTREE:BYST EFO:0007252 Orphanet:876 UMLS:C0014145 ICD10CM:C56 MedDRA:10048251 DOID:1911 SCTID:404081005 ICD10CM:C62.9" UBERON:0012469 MONDO:0001489 NCIT:C36278 -MONDO:0015419 "Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia." "SCTID:403557001 ICD9:744.89 ICD10:Q18.8 Orphanet:141288" +MONDO:0015419 "Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia." "SCTID:403557001 ICD9:744.89 ICD10CM:Q18.8 Orphanet:141288" HP:0032892 "Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever." GO:0045088 "Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection." -MONDO:0018338 "ICD9:279.8 UMLS:C3714976 OMIM:616005 ICD10:D81.8 GARD:0011983 Orphanet:397596 OMIM:615513 SCTID:711480000" +MONDO:0018338 "ICD10CM:D81.8 ICD9:279.8 UMLS:C3714976 OMIM:616005 GARD:0011983 Orphanet:397596 OMIM:615513 SCTID:711480000" MONDO:0006791 "Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances." "MESH:D006939 NCIT:C87084 MedDRA:10020614 SCTID:14094001 EFO:1000971 HP:0012188" GO:0002761 "Any process that modulates the frequency, rate, or extent of myeloid leukocyte differentiation." ENVO:09200011 "The pressure of some air." @@ -5452,33 +5448,32 @@ UBERON:0012468 MONDO:0002634 "A very rare malignant adipose tissue neoplasm that arises from the bone." "DOID:3381 NCIT:C7598 UMLS:C1332581" UBERON:0008969 HP:0011792 "Neoplasm categorized according to type of histological abnormality." "UMLS:C4023186" -MONDO:0001488 "DOID:12307 ICD10:H18.01 SCTID:18377001 ICD9:371.11 UMLS:C0155104" +MONDO:0001488 "DOID:12307 SCTID:18377001 ICD9:371.11 UMLS:C0155104" UBERON:0005108 MONDO:0010705 "OMIM:311350" -MONDO:0006661 "A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into scurvy in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" "MESH:D001206 ICD10:E54 EFO:1000822 SCTID:76169001 MedDRA:10047623 ICD9:267" +MONDO:0006661 "A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into scurvy in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" "MESH:D001206 EFO:1000822 ICD10CM:E54 SCTID:76169001 MedDRA:10047623 ICD9:267" GO:0005231 "Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts, where channel opening contributes to an increase in membrane potential." MONDO:0032759 "OMIM:618453" -MONDO:0006588 "Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13." "OMIM:600231 SCTID:716105001 DOID:0050428 ICD10:Q82.8 OMIM:600962 EFO:1000743 OMIM:615735 UMLS:C0022584 SCTID:400123002 OMIM:613000" MONDO:0011069 "MESH:C538072 OMIM:601389 UMLS:C1832391 GARD:0001227" GO:0017119 "A multisubunit tethering complex of the CATCHR family (complexes associated with tethering containing helical rods) that has a role in tethering vesicles to the Golgi prior to fusion. Composed of 8 subunits COG1-8." -MONDO:0014323 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene." "OMIM:615725 DOID:0110374 UMLS:C3810380 ICD10:H35.5" -MONDO:0011674 "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts." "OMIM:606482 GARD:0012438 SCTID:765745007 Orphanet:100044 DOID:0110197 UMLS:CN197338 Orphanet:228179 ICD10:G60.0" +MONDO:0014323 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene." "OMIM:615725 DOID:0110374 UMLS:C3810380" +MONDO:0011674 "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts." "OMIM:606482 GARD:0012438 SCTID:765745007 ICD10CM:G60.0 Orphanet:100044 DOID:0110197 UMLS:CN197338 Orphanet:228179" MONDO:0012001 "UMLS:C1842349 OMIM:608257 MESH:C564267" MONDO:0000024 MONDO:0013466 "Orphanet:1991 OMIM:613857 UMLS:C3151222 DOID:0080406" -MONDO:0016065 "Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." "ICD10:Q87.0 UMLS:CN200784 GARD:0001392 Orphanet:2015 SCTID:719466009" +MONDO:0016065 "Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993." "ICD10CM:Q87.0 UMLS:CN200784 GARD:0001392 Orphanet:2015 SCTID:719466009" MONDO:0002421 HP:0030050 "An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis." "UMLS:C0027404 MSH:D009290 SNOMEDCT_US:60380001" -MONDO:0006648 "Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion." "UMLS:C0003152 MESH:D000868 ICD10:M76.81 SCTID:12694001 EFO:1000808 NCIT:C118422 DOID:3933" +MONDO:0006648 "Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion." "UMLS:C0003152 MESH:D000868 SCTID:12694001 EFO:1000808 NCIT:C118422 DOID:3933" CL:2000040 "Any microvascular endothelial cell that is part of a urinary bladder." MONDO:0021804 "Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population." "UMLS:C0037118 ICD9:502 MESH:D012830 SCTID:233763009" MONDO:0007580 "OMIM:133300" -MONDO:0009491 "Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis." "GARD:0000044 MESH:C537627 SCTID:719973009 UMLS:C1855627 ICD10:Q82.8 OMIM:245010 Orphanet:2342" +MONDO:0009491 "Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis." "GARD:0000044 MESH:C537627 SCTID:719973009 ICD10CM:Q82.8 UMLS:C1855627 OMIM:245010 Orphanet:2342" UBERON:0012467 UBERON:0001628 GO:0051953 "Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." MONDO:0005994 "Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus." "EFO:0007522 UMLS:C0040947 DOID:1255 MESH:D014252" -MONDO:0007862 "Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin." "OMIM:148820 Orphanet:896 DOID:0110949 GARD:0005523 ICD10:E70.3 Orphanet:3440" +MONDO:0007862 "Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin." "OMIM:148820 Orphanet:896 ICD10CM:E70.3 DOID:0110949 GARD:0005523 Orphanet:3440" MONDO:0022025 "MESH:C537083 GARD:0000954 UMLS:C2931419" MONDO:0021927 "MESH:C537442 GARD:0000781 UMLS:C2931495" NCBITaxon:72273 "GC_ID:11 PMID:16280474" @@ -5486,45 +5481,45 @@ GO:0010562 "Any process that increases the frequency, rate or extent of the chem MONDO:0015248 "Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983." "Orphanet:1184 UMLS:CN237421" MONDO:0013618 "OMIM:614195 UMLS:C3280099" MONDO:0003967 "A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis." "DOID:6696 NCIT:C6471 UMLS:C1336544" -MONDO:0001638 "SCTID:191156009 DOID:13120 UMLS:C0154290 ICD10:D53.0 ICD9:281.4" +MONDO:0001638 "SCTID:191156009 DOID:13120 UMLS:C0154290 ICD9:281.4 ICD10CM:D53.0" PATO:0001576 "A pressure which is relatively high." UBERON:0004121 MONDO:0013503 "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene." "UMLS:C3151405 OMIM:613956" MONDO:0014816 "Orphanet:488232 OMIM:616890 UMLS:C4225167" -MONDO:0008855 "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood." "GARD:0000824 MESH:C537079 UMLS:CN239286 ICD10:D81.6 OMIM:209920 DOID:5812 SCTID:71904008 ICD10:D81.7 NCIT:C3895 Orphanet:572" -MONDO:0020533 "Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats." "Orphanet:99905 UMLS:C0152063 ICD10:A25.1 UMLS:CN207435 ICD9:026.1 DOID:13238 SCTID:52138004" +MONDO:0008855 "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood." "GARD:0000824 MESH:C537079 UMLS:CN239286 OMIM:209920 DOID:5812 SCTID:71904008 NCIT:C3895 Orphanet:572" +MONDO:0020533 "Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats." "Orphanet:99905 UMLS:C0152063 UMLS:CN207435 ICD9:026.1 DOID:13238 SCTID:52138004" UBERON:0004387 -MONDO:0018564 "3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements." "Orphanet:435638 UMLS:CN237571 ICD10:Q93.5" -MONDO:0019638 "Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." "Orphanet:93108 ICD10:Q61.4 HP:0000110" +MONDO:0018564 "3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements." "Orphanet:435638 UMLS:CN237571 ICD10CM:Q93.5" +MONDO:0019638 "Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia." "Orphanet:93108 HP:0000110" GO:2000112 "Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process." GO:0036072 "The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance, that does not require the replacement of preexisting tissues." -MONDO:0007990 "OMIM:156610 GARD:0003589 MESH:C537575 ICD10:Q82.8 OMIM:616734 Orphanet:2505 UMLS:C0473586" +MONDO:0007990 "OMIM:156610 GARD:0003589 MESH:C537575 OMIM:616734 ICD10CM:Q82.8 Orphanet:2505 UMLS:C0473586" MONDO:0001636 "SCTID:38683003 ICD9:374.02 DOID:13112 UMLS:C0155189" GO:0099643 "Any signal release from a synapse." -MONDO:0010386 "Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene." "GARD:0012915 Orphanet:319605 UMLS:C1845073 MESH:C564468 UMLS:C1970879 Orphanet:319612 ICD10:D84.8 MESH:C567070 OMIM:300636" -MONDO:0010033 "Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." "SCTID:718749004 OMIM:270300 Orphanet:263553 GARD:0012862 UMLS:CN202304 Orphanet:263543 ICD10:Q80.8 OMIM:616265 UMLS:C4305156" +MONDO:0010386 "Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene." "GARD:0012915 Orphanet:319605 UMLS:C1845073 MESH:C564468 ICD10CM:D84.8 UMLS:C1970879 Orphanet:319612 MESH:C567070 OMIM:300636" +MONDO:0010033 "Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." "ICD10CM:Q80.8 SCTID:718749004 OMIM:270300 Orphanet:263553 GARD:0012862 UMLS:CN202304 Orphanet:263543 OMIM:616265 UMLS:C4305156" MONDO:0013735 "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern." "Orphanet:329332 OMIM:614407 UMLS:C3280692" MONDO:0024421 "GARD:0004839" ENVO:01000815 "An environmental material which is in a liquid state." ENVO:00003075 HP:0004308 "SNOMEDCT_US:44103008 UMLS:C0085612" GO:1990542 "The process in which a solute is transported from one side of a membrane to the other into, out of or within a mitochondrion." -MONDO:0020115 "Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia)." "Orphanet:98428 NCIT:C27178 ICD10:D75.1 UMLS:C1318533 MedDRA:10036062" -MONDO:0012748 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene." "MESH:C567504 OMIM:611884 ICD10:Q34.8 DOID:0110605 UMLS:C2678473" +MONDO:0020115 "Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia)." "Orphanet:98428 NCIT:C27178 UMLS:C1318533 MedDRA:10036062" +MONDO:0012748 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene." "MESH:C567504 OMIM:611884 DOID:0110605 UMLS:C2678473" UBERON:0004388 MONDO:0030311 "OMIM:619386" MONDO:0000439 MONDO:0003128 "A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements." "NCIT:C36054 DOID:4767 UMLS:C1332556" MONDO:0002835 -MONDO:0014500 "Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted." "OMIM:616117 ICD10:I45.8 UMLS:C4015285 Orphanet:436242 EFO:0005304" +MONDO:0014500 "Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted." "OMIM:616117 ICD10CM:I45.8 UMLS:C4015285 Orphanet:436242 EFO:0005304" MONDO:0001637 "UMLS:C0155191 SCTID:67383002 ICD9:374.04 DOID:13113" UBERON:0004122 NCBITaxon:2732406 "GC_ID:1" MONDO:0004395 MONDO:0013201 "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3." "Orphanet:897 UMLS:C2750457 MESH:C567680 DOID:0110954 OMIM:613265" MONDO:0100410 "Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)" "NCIT:C36616" -MONDO:0013984 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene." "ICD10:H90.3 DOID:0110530 OMIM:614944 UMLS:C3554159" -MONDO:0019979 "Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present." "Orphanet:97361 ICD10:Q60.3" +MONDO:0013984 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene." "DOID:0110530 OMIM:614944 UMLS:C3554159" +MONDO:0019979 "Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present." "Orphanet:97361 ICD10CM:Q60.3" MONDO:0005330 NCBITaxon:11077 "GC_ID:1" MONDO:0003012 "A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade." "NCIT:C27893 MESH:D002292 ICDO:8318/3 DOID:4473 UMLS:C1266043 ONCOTREE:SRCC" @@ -5532,10 +5527,10 @@ MONDO:0002360 "A benign well circumscribed neoplasm of hyaline cartilage arising UBERON:0005321 UBERON:5001466 MONDO:0016072 "An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome." "Orphanet:202940" -MONDO:0008684 "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." "SCTID:718226002 DOID:0050460 Orphanet:280 NCIT:C35528 ICD10:Q93.3 UMLS:C0796117 MedDRA:10050361 UMLS:C0796202 MESH:D054877 UMLS:CN207113 OMIM:194190 UMLS:C1956097 GARD:0007896" +MONDO:0008684 "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." "SCTID:718226002 DOID:0050460 Orphanet:280 NCIT:C35528 UMLS:C0796117 MedDRA:10050361 UMLS:C0796202 MESH:D054877 UMLS:CN207113 OMIM:194190 UMLS:C1956097 GARD:0007896 ICD10CM:Q93.3" MONDO:0015017 "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene." "UMLS:C4310622 DOID:0080613 OMIM:617319" UBERON:0004389 -MONDO:0016003 "Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE)." "UMLS:C0085399 ICD10:A77.40 ICD10:A48.8 ICD10:A77.4 ICD9:082.40 GARD:0002092 MESH:D016873 Orphanet:1902 ICD9:082.4 DOID:10242 SCTID:240626005" +MONDO:0016003 "Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE)." "UMLS:C0085399 ICD9:082.40 GARD:0002092 MESH:D016873 ICD10CM:A48.8 Orphanet:1902 ICD9:082.4 DOID:10242 SCTID:240626005" MONDO:0000438 NCBITaxon:2732409 "GC_ID:1" GO:0045922 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving fatty acids." @@ -5544,38 +5539,38 @@ MONDO:0005496 "A carcinoma that arises from epithelial cells of the bile duct" " UBERON:0001629 MONDO:0100262 "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene." MONDO:0020947 "Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites." "SCTID:312418006 ICD9:136.9 UMLS:C0015406 MESH:D015822" -MONDO:0015912 "An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD." "SCTID:234484005 ICD9:582.89 Orphanet:182050 Orphanet:1019 OMIM:155100 ICD9:287.33 UMLS:C1834478 Orphanet:1984 UMLS:CN226270 OMIM:153640 UMLS:CN226018 GARD:0000180 ICD10:D69.4 UMLS:CN226030 OMIM:605249 OMIM:153650 SCTID:712922002 SCTID:236422008 DOID:0060651 SCTID:234485006 ICD9:759.89 GARD:0000179 Orphanet:807 MESH:C537831 Orphanet:850 NCIT:C131646 OMIM:600208" +MONDO:0015912 "An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD." "SCTID:234484005 ICD9:582.89 Orphanet:182050 Orphanet:1019 OMIM:155100 ICD9:287.33 UMLS:C1834478 Orphanet:1984 UMLS:CN226270 OMIM:153640 UMLS:CN226018 GARD:0000180 UMLS:CN226030 OMIM:605249 OMIM:153650 SCTID:712922002 SCTID:236422008 DOID:0060651 ICD10CM:D69.4 SCTID:234485006 ICD9:759.89 GARD:0000179 Orphanet:807 MESH:C537831 Orphanet:850 NCIT:C131646 OMIM:600208" MONDO:0013172 "A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction." "UMLS:C2750798 MESH:C567715 Orphanet:250972 OMIM:613180" -MONDO:0005928 "A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing." "ICD9:459.10 ICD9:459.13 ICD9:459.1 ICD10:I87.0 ICD9:459.12 EFO:0007452 MESH:D011186 DOID:2364 SCTID:20427003 ICD9:459.11" -MONDO:0009746 "Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever." "Orphanet:642 OMIM:256800 SCTID:62985007 ICD10:G60.8 DOID:0070146 PMID:8696348 UMLS:C0020074 PMID:14272277 NCIT:C118633 GARD:3006 GARD:0003006" +MONDO:0005928 "A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing." "ICD9:459.10 ICD9:459.13 ICD9:459.1 ICD10CM:I87.0 ICD9:459.12 EFO:0007452 MESH:D011186 DOID:2364 SCTID:20427003 ICD9:459.11" +MONDO:0009746 "Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever." "Orphanet:642 OMIM:256800 SCTID:62985007 DOID:0070146 PMID:8696348 UMLS:C0020074 PMID:14272277 NCIT:C118633 GARD:3006 GARD:0003006 ICD10CM:G60.8" MONDO:0000436 -MONDO:0007424 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene." "ICD10:H90.3 DOID:0110541 OMIM:124900 UMLS:C1852282 MESH:C565121" +MONDO:0007424 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene." "DOID:0110541 OMIM:124900 UMLS:C1852282 MESH:C565121" UBERON:0005322 MONDO:0024685 "NCIT:C3177 UMLS:C0023476" -MONDO:0014688 "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23." "OMIM:616546 UMLS:C4225286 ICD10:Q04.3 DOID:0110096" +MONDO:0014688 "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23." "OMIM:616546 UMLS:C4225286 DOID:0110096" UBERON:0002827 -MONDO:0007319 "A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA)." "Orphanet:1416 OMIM:600668 MESH:C563162 UMLS:CN199517 GARD:0001292 ICD10:M11.1 OMIM:118600" +MONDO:0007319 "A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA)." "Orphanet:1416 OMIM:600668 MESH:C563162 UMLS:CN199517 GARD:0001292 OMIM:118600" MONDO:0023221 "GARD:0002444" MONDO:0060690 "OMIM:617955" UBERON:0004124 -MONDO:0008205 "Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." "ICD10:Q74.1 Orphanet:86789 GARD:0008709 OMIM:168860 MESH:C535568" +MONDO:0008205 "Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." "Orphanet:86789 GARD:0008709 ICD10CM:Q74.1 OMIM:168860 MESH:C535568" CL:0000236 "A lymphocyte of B lineage that is capable of B cell mediated immunity." "VHOG:0001480 CALOHA:TS-0068 BTO:0000776 FMA:62869" -MONDO:0012506 "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene." "MESH:C566471 ICD10:I42.8 OMIM:610476 DOID:0110082 Orphanet:217656" -MONDO:0008368 "Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." "Orphanet:18 GARD:0004668 OMIM:179800 ICD10:N25.8 Orphanet:93608" +MONDO:0012506 "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene." "MESH:C566471 OMIM:610476 DOID:0110082 Orphanet:217656" +MONDO:0008368 "Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." "Orphanet:18 GARD:0004668 OMIM:179800 ICD10CM:N25.8 Orphanet:93608" NCBITaxon:2732408 "GC_ID:1" MONDO:0005265 "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type." "OMIM:611081 OMIMPS:266600 SCTID:24526004 OMIM:608448 UMLS:C0021390 ICD9:558.9 EFO:0003767 KEGG:05321 OMIM:612245 DOID:0050589 MESH:D015212 OMIM:612244 OMIM:612261 NCIT:C3138 OMIM:612278" MONDO:0018512 "OBSOLETE. Any of the forms of epithelial tumor of colon that have a rare incidence." "Orphanet:423991 UMLS:CN237517" MONDO:0006034 "A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation." "UMLS:C1333761 ONCOTREE:STAS EFO:1000029 NCIT:C5474 DOID:5635" -MONDO:0010334 "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy)." "MESH:C564508 OMIM:300475 UMLS:CN204816 Orphanet:369939 Orphanet:369942 ICD10:Q87.8" +MONDO:0010334 "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy)." "MESH:C564508 ICD10CM:Q87.8 OMIM:300475 UMLS:CN204816 Orphanet:369939 Orphanet:369942" MONDO:0005463 "Calcification of the aortic valve" "UMLS:C0428791 SCTID:250978003 EFO:0005239 HP:0004380" MONDO:0008091 "OMIM:162820" PATO:0002124 "A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer." MONDO:0002764 "A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra." "ONCOTREE:USCC UMLS:C1336890 DOID:3750 NCIT:C6165" MONDO:0000435 -MONDO:0015060 "Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities." "SCTID:764627005 ICD10:Q92.1 Orphanet:100071 UMLS:CN073992 GARD:0005342" +MONDO:0015060 "Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities." "ICD10CM:Q92.1 SCTID:764627005 Orphanet:100071 UMLS:CN073992 GARD:0005342" MONDO:0002532 "A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example." "MESH:D018307 UMLS:C0206720 DOID:3168 NCIT:C3792" -MONDO:0007857 "Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant." "UMLS:C1835663 ICD10:Q82.8 OMIM:148520 Orphanet:86919 MESH:C563646" -MONDO:0015596 "Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders." "Orphanet:163924 ICD10:G04.8 SCTID:764998005" +MONDO:0007857 "Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant." "UMLS:C1835663 ICD10CM:Q82.8 OMIM:148520 Orphanet:86919 MESH:C563646" +MONDO:0015596 "Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders." "Orphanet:163924 ICD10CM:G04.8 SCTID:764998005" GO:0098871 "The actin cytoskeleton that is part of a postsynapse." MONDO:0002830 MONDO:0045038 "SCTID:240786004 UMLS:C0343966" @@ -5583,31 +5578,31 @@ GO:0051092 "Any process that activates or increases the frequency, rate or exten MONDO:0023226 "GARD:0002464" UBERON:0004383 NCBITaxon:11079 "GC_ID:1" -MONDO:0014300 "Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy." "DOID:0111335 ICD10:G71.3 OMIM:615673 GARD:0012978 Orphanet:401768 UMLS:C3810285" -MONDO:0019739 "ICD10:D58.8 OMIM:235400 Orphanet:93581 UMLS:CN206652" -MONDO:0018492 "A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common." "UMLS:CN237493 NCIT:C36260 DOID:7192 OMIM:144700 Orphanet:422526 ICD10:C64 SCTID:764961009" -MONDO:0008564 "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly." "NCIT:C2989 DOID:11198 ICD9:279.11 OMIM:188400 SCTID:77128003 ICD10:D82.1 GTR:AN1145678 UMLS:CN734570 MESH:D004062 Orphanet:567" +MONDO:0014300 "Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy." "DOID:0111335 OMIM:615673 GARD:0012978 Orphanet:401768 UMLS:C3810285 ICD10CM:G71.3" +MONDO:0019739 "OMIM:235400 Orphanet:93581 UMLS:CN206652 ICD10CM:D58.8" +MONDO:0018492 "A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common." "UMLS:CN237493 NCIT:C36260 DOID:7192 OMIM:144700 ICD10CM:C64 Orphanet:422526 SCTID:764961009" +MONDO:0008564 "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly." "NCIT:C2989 DOID:11198 ICD9:279.11 OMIM:188400 SCTID:77128003 GTR:AN1145678 UMLS:CN734570 MESH:D004062 Orphanet:567" MONDO:0018070 "Familial multiple fibrofolliculoma is a genodermatosis characterised by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far." "SCTID:723361006 UMLS:C4509837 UMLS:CN204388 Orphanet:338 GARD:0003831" MONDO:0006344 "A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular." "NCIT:C8107 EFO:1000437 ONCOTREE:OYST SCTID:254876005 DOID:5350 UMLS:C0346188" MONDO:0022034 "Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." "MESH:D016180 EFO:1001357 UMLS:C0079680" MONDO:0100337 "Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia." -MONDO:0019419 "X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome." "SCTID:719825000 UMLS:CN206174 Orphanet:85320 ICD10:Q87.8" +MONDO:0019419 "X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome." "SCTID:719825000 ICD10CM:Q87.8 UMLS:CN206174 Orphanet:85320" MONDO:0000434 MONDO:0004639 "A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract." "MESH:D020345 SCTID:2707005 DOID:8677 SCTID:397729009 GARD:0009767 UMLS:C0520459 NCIT:C84915" HP:0100303 "The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins." "UMLS:C4022157" UBERON:0000428 -MONDO:0001491 "An asthma that is characterized by chronic nonproductive cough without shortness of breath." "SCTID:409663006 ICD9:493.82 DOID:12323 ICD10:J45.991 UMLS:C0694548" +MONDO:0001491 "An asthma that is characterized by chronic nonproductive cough without shortness of breath." "SCTID:409663006 ICD9:493.82 DOID:12323 UMLS:C0694548 ICD10CM:J45.991" MONDO:0005533 "Particular variety of ulcerative colitis where only the left half of the colon is inflamed." "UMLS:C0860168 EFO:0005623 SCTID:373639002 ICD9:558.9" MONDO:0020644 "A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma." "NCIT:C5684 UMLS:C1334453" MONDO:0045039 "UMLS:C0343967 SCTID:240787008" -MONDO:0002246 "An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it." "DOID:222 ICD9:380.0 ICD10:H61.0 ICD9:380.00 UMLS:C0155389 ICD10:H61.00 SCTID:34129005 ICD10:H61.009" -MONDO:0008901 "Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." "SCTID:719946008 UMLS:C1859356 OMIM:211960 ICD10:Q74.0 MESH:C536953 Orphanet:3292 GARD:0005128" -MONDO:0019738 "OMIM:609814 OMIM:235400 UMLS:CN206650 ICD10:D58.8 Orphanet:93579" -MONDO:0001899 "UMLS:C0155582 ICD9:398.91 DOID:14172 ICD10:I09.81 SCTID:82523003" +MONDO:0002246 "An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it." "DOID:222 ICD9:380.0 ICD9:380.00 UMLS:C0155389 SCTID:34129005" +MONDO:0008901 "Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics." "ICD10CM:Q74.0 SCTID:719946008 UMLS:C1859356 OMIM:211960 MESH:C536953 Orphanet:3292 GARD:0005128" +MONDO:0019738 "OMIM:609814 OMIM:235400 UMLS:CN206650 ICD10CM:D58.8 Orphanet:93579" +MONDO:0001899 "UMLS:C0155582 ICD9:398.91 ICD10CM:I09.81 DOID:14172 SCTID:82523003" MONDO:0020727 "Orphanet:254913 DOID:0111498 OMIM:616045" UBERON:0001622 -MONDO:0001475 "A decrease in the number of neutrophils found in the blood." "UMLS:C0027947 MESH:D009503 SCTID:303011007 ICD9:288.0 ICD10:D70 ICD9:288.00 DOID:1227 HP:0001875 ICD10:D70.9" -MONDO:0020402 "Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations." "Orphanet:99061 ICD10:Q23.8" +MONDO:0001475 "A decrease in the number of neutrophils found in the blood." "UMLS:C0027947 MESH:D009503 SCTID:303011007 ICD9:288.0 ICD9:288.00 ICD10CM:D70 DOID:1227 HP:0001875" +MONDO:0020402 "Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations." "ICD10CM:Q23.8 Orphanet:99061" HP:0010936 "An abnormality of the lower urinary tract." "UMLS:C4023640" UBERON:0004384 MONDO:0005592 "ICD9:521.07 EFO:0006339" @@ -5619,36 +5614,36 @@ http://identifiers.org/hgnc/29101 NCBITaxon:6231 "GC_ID:1" MONDO:0000699 MONDO:0000433 -MONDO:0011938 "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene." "MESH:C538263 ICD10:Q21.1 OMIM:607941 UMLS:C1842778 DOID:0110107 Orphanet:1478" +MONDO:0011938 "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene." "MESH:C538263 OMIM:607941 UMLS:C1842778 DOID:0110107 Orphanet:1478" MONDO:0054781 "UMLS:CN244569 DOID:0111482 OMIM:617950" UBERON:0002824 FOODON:00001258 MONDO:0011829 "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene." "UMLS:C1843920 Orphanet:255249 DOID:0070238 OMIM:607426 UMLS:C3551954" -MONDO:0000741 "Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts." "DOID:0060312 UMLS:C0221264 UMLS:C0221237 SCTID:7847004 SCTID:16459000 NCIT:C112198 ICD10:K13.0 MESH:D002613 UMLS:C0007971" +MONDO:0000741 "Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts." "DOID:0060312 UMLS:C0221264 UMLS:C0221237 SCTID:7847004 SCTID:16459000 NCIT:C112198 MESH:D002613 UMLS:C0007971" GO:0004857 "Binds to and stops, prevents or reduces the activity of an enzyme." MONDO:0020728 "OMIM:220150 UMLS:C0473219 Orphanet:94088" -MONDO:0017048 "Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis." "Orphanet:26790 NCIT:C3345 GARD:0007488 ICD10:C78.6 MESH:D011553 UMLS:C0033822 ICDO:8480/6 EFO:0007456 DOID:3559 SCTID:307601000 MedDRA:10037138 GARD:0002448" +MONDO:0017048 "Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis." "Orphanet:26790 NCIT:C3345 ICD10CM:C78.6 GARD:0007488 MESH:D011553 UMLS:C0033822 ICDO:8480/6 EFO:0007456 DOID:3559 SCTID:307601000 MedDRA:10037138 GARD:0002448" NCBITaxon:2732405 "GC_ID:1" UBERON:0004385 -MONDO:0019444 "A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur." "SCTID:709018004 MedDRA:10044608 MESH:D014235 ICD10:B75 GARD:0005250 Orphanet:863" -MONDO:0009685 "A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes." "GARD:0009676 Orphanet:45448 OMIM:613318 DOID:0070198 MESH:C537480 OMIMPS:254130 NCIT:C118846 OMIM:254130 ICD10:G71.0 OMIM:613319" +MONDO:0019444 "A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur." "SCTID:709018004 MedDRA:10044608 MESH:D014235 GARD:0005250 ICD10CM:B75 Orphanet:863" +MONDO:0009685 "A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes." "GARD:0009676 Orphanet:45448 OMIM:613318 DOID:0070198 MESH:C537480 OMIMPS:254130 ICD10CM:G71.0 NCIT:C118846 OMIM:254130 OMIM:613319" MONDO:0054780 "MESH:C566678 OMIM:617948" MONDO:0011177 "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene." "MESH:C566592 GARD:0004364 Orphanet:69084 DOID:0111658 UMLS:C2931483 OMIM:602032" -MONDO:0012293 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene." "MESH:C563705 ICD10:H90.3 DOID:0110481 OMIM:609533 UMLS:C1836027 Orphanet:90636" +MONDO:0012293 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene." "MESH:C563705 DOID:0110481 OMIM:609533 UMLS:C1836027 Orphanet:90636" GO:0008643 "The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are a group of organic compounds based of the general formula Cx(H2O)y." MONDO:0012073 "Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy." "ICD9:277.6 Orphanet:440706 OMIM:608611 UMLS:C1291609 MESH:C563212 SCTID:124667004" http://identifiers.org/hgnc/40 GO:1903059 "Any process that modulates the frequency, rate or extent of protein lipidation." NCBITaxon:66360 "GC_ID:1" -MONDO:0011827 "A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure." "MESH:D004374 GARD:0007342 DOID:13832 Orphanet:706 ICD9:747.0 SCTID:83330001 ICD10:Q25.0 OMIM:607411 NCIT:C84492 OMIMPS:607411" -MONDO:0017372 "Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection." "NCIT:C116800 ICD10:P35.8 ICD9:771.2 GARD:0000045 SCTID:277644009 Orphanet:291 UMLS:C0343560" +MONDO:0011827 "A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure." "MESH:D004374 ICD10CM:Q25.0 GARD:0007342 DOID:13832 Orphanet:706 ICD9:747.0 SCTID:83330001 OMIM:607411 NCIT:C84492 OMIMPS:607411" +MONDO:0017372 "Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection." "NCIT:C116800 ICD9:771.2 GARD:0000045 SCTID:277644009 Orphanet:291 UMLS:C0343560" MONDO:0017418 "Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease)." "Orphanet:294422 SCTID:716665002 UMLS:C4274352 UMLS:CN203168" MONDO:0001445 "OBSOLETE. Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy)." "NCIT:C79696 MESH:D001750 SCTID:398064005 ICD9:596.54 HP:0000011 UMLS:C0005697 DOID:12143" FOODON:00001257 UBERON:0004120 MONDO:0001897 "SCTID:194373002 UMLS:C0155516 ICD9:386.52 DOID:14165" MONDO:0020729 "Orphanet:229717 OMIM:601495 Orphanet:33110" -MONDO:0002272 "A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines." "UMLS:C0154254 ICD10:D89.0 NCIT:C35885 SCTID:190808009 DOID:2344 ICD9:273.0" +MONDO:0002272 "A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines." "UMLS:C0154254 NCIT:C35885 ICD10CM:D89.0 SCTID:190808009 DOID:2344 ICD9:273.0" MONDO:0025622 "OMIM:500013" UBERON:0004386 HP:0010442 "A congenital anomaly characterized by the presence of supernumerary fingers or toes." "Fyler:4103 SNOMEDCT_US:367506006 UMLS:C0152427 MSH:D017689" @@ -5656,8 +5651,8 @@ MONDO:0005591 "ICD9:521.06 EFO:0006338" NCIT:C36753 http://identifiers.org/hgnc/43 MONDO:0100356 "A severe form of a genetic disease." -MONDO:0005995 "Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin." "MESH:D014253 UMLS:C0040948 ICD9:127.6 EFO:0007523 DOID:1254 ICD10:B81.2 SCTID:33710003" -MONDO:0020721 "ICD10:D64.0 OMIM:300751 Orphanet:75563 GARD:0009456 MESH:C536761 DOID:0060063 UMLS:C0221018 SCTID:62677000" +MONDO:0005995 "Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin." "MESH:D014253 UMLS:C0040948 ICD9:127.6 EFO:0007523 DOID:1254 ICD10CM:B81.2 SCTID:33710003" +MONDO:0020721 "DOID:0060063 SCTID:62677000 OMIM:300751 Orphanet:75563 ICD10CM:D64.0 UMLS:C0221018 MESH:C536761 GARD:0009456" MONDO:0007997 "MESH:C537468 OMIM:157150 GARD:0009462 UMLS:C1834881" CL:1001577 "Squamous cell of tonsil epithelium." "CALOHA:TS-1253" MONDO:0007731 @@ -5669,20 +5664,20 @@ http://identifiers.org/hgnc/7553 MONDO:0008096 "OMIM:163100 MESH:C567524" MONDO:0045034 http://identifiers.org/hgnc/31555 -MONDO:0017455 "Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies." "SCTID:763535005 Orphanet:295002 ICD10:Q74.8" +MONDO:0017455 "Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies." "SCTID:763535005 Orphanet:295002 ICD10CM:Q74.8" MONDO:0004138 MONDO:0020722 "OMIM:167030 UMLS:C1833683" GO:0072509 MONDO:0010241 "Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene." "DOID:0110871 UMLS:C1848172 OMIM:300071" UBERON:0001885 MONDO:0002812 "Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology." "NCIT:C27339 UMLS:C1168225" -MONDO:0019428 "Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies." "SCTID:718848000 UMLS:CN206186 OMIM:304340 Orphanet:85335 UMLS:C4305134 ICD10:Q87.8" +MONDO:0019428 "Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies." "SCTID:718848000 UMLS:CN206186 OMIM:304340 ICD10CM:Q87.8 Orphanet:85335 UMLS:C4305134" GO:0040020 "Any process that modulates the frequency, rate or extent of meiotic nuclear division, the process in which the nucleus of a diploid cell divides twice forming four haploid cells, one or more of which usually function as gametes." GO:0016788 "Catalysis of the hydrolysis of any ester bond." GO:0035556 "The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell." GO:0099055 "The component of the postsynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane." GO:0010256 "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endomembrane system." -MONDO:0015204 "Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years." "ICD10:Q04.3 Orphanet:1083 OMIM:614019 OMIM:616212 UMLS:C1956147" +MONDO:0015204 "Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years." "Orphanet:1083 ICD10CM:Q04.3 OMIM:614019 OMIM:616212 UMLS:C1956147" MONDO:0003262 "A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets." "UMLS:C0259786 ONCOTREE:RHM NCIT:C6909 DOID:5058" MONDO:0054782 "UMLS:CN244566 OMIM:617951" http://identifiers.org/hgnc/21708 @@ -5695,10 +5690,9 @@ http://identifiers.org/hgnc/5157 CHEBI:25362 "A molecule all atoms of which have the same atomic number." GO:0001869 "Any process that stops, prevents, or reduces the rate of complement activation by the lectin pathway." MONDO:0044098 "An abnormal pregnancy in which the conception is implanted on the ovary." "SCTID:9899009 NCIT:C92945 MESH:D065172" -MONDO:0004137 MONDO:0012678 "Orphanet:334 OMIM:611494 UMLS:C1969099 MESH:C566932" -MONDO:0014296 "Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene." "OMIM:615663 DOID:0110719 UMLS:C3810265 ICD10:Q87.0 Orphanet:2510" -MONDO:0018096 "Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma." "ICD10:Q87.0 OMIM:614819 MedDRA:10064963 GARD:0004936 OMIM:608328 MESH:D056846 UMLS:C0265313 OMIMPS:277600 SCTID:2884008 DOID:0050475 OMIM:277600 ICD9:759.89 Orphanet:3449 NCIT:C85226 OMIM:613195" +MONDO:0014296 "Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene." "OMIM:615663 DOID:0110719 UMLS:C3810265 Orphanet:2510" +MONDO:0018096 "Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma." "ICD10CM:Q87.0 OMIM:614819 MedDRA:10064963 GARD:0004936 OMIM:608328 MESH:D056846 UMLS:C0265313 OMIMPS:277600 SCTID:2884008 DOID:0050475 OMIM:277600 ICD9:759.89 Orphanet:3449 NCIT:C85226 OMIM:613195" UBERON:0004380 GO:0005840 "An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins." MONDO:0020723 "OMIM:264700 UMLS:C0268689 Orphanet:289157" @@ -5707,50 +5701,49 @@ http://identifiers.org/hgnc/6354 MONDO:0045014 "A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process." "SCTID:237913008 UMLS:C0342676" http://identifiers.org/hgnc/45 MONDO:0010019 "ICD9:279.03 UMLS:C0398709 SCTID:234554004 MESH:C562869 OMIM:269650" -MONDO:0011273 "H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." "MESH:C538322 GARD:0000581 UMLS:C1864445 UMLS:C2930890 SCTID:711159002 MESH:C535391 GARD:0010239 Orphanet:168569 ICD10:D76.3 OMIM:602782" +MONDO:0011273 "H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." "MESH:C538322 GARD:0000581 UMLS:C1864445 UMLS:C2930890 SCTID:711159002 MESH:C535391 ICD10CM:D76.3 GARD:0010239 Orphanet:168569 OMIM:602782" CHEBI:50681 MONDO:0002190 "A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis." "UMLS:C1520099 NCIT:C40311 DOID:2064" MONDO:0054785 "DOID:0070332 OMIM:617954 UMLS:CN244567" -MONDO:0017354 "Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures." "Orphanet:289860 ICD10:E72.5" +MONDO:0017354 "Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures." "ICD10CM:E72.5 Orphanet:289860" MONDO:0025419 "A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida." "NCIT:C34629 MESH:D005667" NCBITaxon:5037 "GC_ID:1" -MONDO:0001214 "Acute inflammation of the conjunctiva." "ICD9:372.03 UMLS:C0155141 DOID:11184 ICD9:372.00 SCTID:53726008 NCIT:C35195 ICD10:H10.02" +MONDO:0001214 "Acute inflammation of the conjunctiva." "ICD9:372.03 UMLS:C0155141 DOID:11184 ICD9:372.00 SCTID:53726008 NCIT:C35195" http://identifiers.org/hgnc/7551 -MONDO:0008098 "SCTID:33979003 Orphanet:2633 OMIM:163400 ICD10:Q78.8 GARD:0003554 UMLS:C0432231 MESH:C536120" +MONDO:0008098 "SCTID:33979003 Orphanet:2633 OMIM:163400 GARD:0003554 ICD10CM:Q78.8 UMLS:C0432231 MESH:C536120" UBERON:0001621 MONDO:0045032 "SCTID:25898005 ICD9:579.8 UMLS:C0267661" MONDO:0004478 "A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years." "UMLS:C1333038 NCIT:C37204 DOID:8144" MONDO:0006535 -MONDO:0011244 "Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth." "MESH:C536026 ICD10:Q87.3 ICD9:759.89 SCTID:73284007 UMLS:C0265211 DOID:0050858 GARD:0006985 Orphanet:561 OMIM:602535" +MONDO:0011244 "Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth." "MESH:C536026 ICD9:759.89 SCTID:73284007 ICD10CM:Q87.3 UMLS:C0265211 DOID:0050858 GARD:0006985 Orphanet:561 OMIM:602535" UBERON:0004381 MONDO:0010018 "UMLS:C1849259 MESH:C564824 OMIM:269630" MONDO:0020724 "DOID:0080491 OMIM:116860 Orphanet:221061" http://identifiers.org/hgnc/17358 -MONDO:0017898 "OBSOLETE. Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency." "UMLS:CN203954 ICD10:D84.8 Orphanet:319539" +MONDO:0017898 "OBSOLETE. Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency." "ICD10CM:D84.8 UMLS:CN203954 Orphanet:319539" http://identifiers.org/hgnc/44 -MONDO:0024647 "Stone(s) within the urinary tract." "SCTID:95566004 ICD10:N21 NCIT:C114688 UMLS:C0451641 DOID:0080653" -MONDO:0019917 "Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy." "ICD10:Q99.8 Orphanet:96186 OMIM:617352 DOID:0111714 SCTID:715735007" +MONDO:0024647 "Stone(s) within the urinary tract." "SCTID:95566004 ICD10CM:N21 NCIT:C114688 ICD10CM:N20-N23 UMLS:C0451641 DOID:0080653" +MONDO:0019917 "Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy." "Orphanet:96186 OMIM:617352 DOID:0111714 ICD10CM:Q99.8 SCTID:715735007" MONDO:0005337 CHEBI:50680 MONDO:0040653 "Autosomal recessive form of ocular albinism (disease)." "SCTID:78921008" -MONDO:0010476 "Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood." "UMLS:CN168656 ICD10:G23.0 OMIM:300894 GARD:0012570 DOID:0110739 SCTID:732959007 Orphanet:329284 UMLS:C3550973" +MONDO:0010476 "Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood." "UMLS:CN168656 GARD:0012570 OMIM:300894 DOID:0110739 ICD10CM:G23.0 SCTID:732959007 Orphanet:329284 UMLS:C3550973" NCBITaxon:5036 "GC_ID:1" CHEBI:33318 "An atom belonging to one of the main groups (found in the s- and p- blocks) of the periodic table." http://identifiers.org/hgnc/25662 -MONDO:0014475 "Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis." "ICD10:G11.8 Orphanet:423275 SCTID:734020000 UMLS:CN219009 EFO:0009057 DOID:0050986 GARD:0012371 UMLS:C4518336 OMIM:616053 UMLS:CN237494" +MONDO:0014475 "Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis." "Orphanet:423275 SCTID:734020000 UMLS:CN219009 EFO:0009057 ICD10CM:G11.8 DOID:0050986 GARD:0012371 UMLS:C4518336 OMIM:616053 UMLS:CN237494" MONDO:0021238 "A neoplasm (disease) that involves the cornea." "NCIT:C4361 UMLS:C0339304" UBERON:0001620 UBERON:0004382 GO:0022835 "Enables the transmembrane transfer of a solute by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts." UBERON:0001886 -MONDO:0007211 "Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." "UMLS:C1862170 MESH:C537095 ICD10:Q73.8 SCTID:720568003 OMIM:112410 Orphanet:1276 DOID:0111247 GARD:0000967" +MONDO:0007211 "Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." "UMLS:C1862170 MESH:C537095 ICD10CM:Q73.8 SCTID:720568003 OMIM:112410 Orphanet:1276 DOID:0111247 GARD:0000967" SO:0002121 "The configuration of the IG and TR variable (V), diversity (D) and joining (J) germline genes before DNA rearrangements (with or without constant (C) genes in undefined configuration. (germline, non rearranged regions of the IG DNA loci)." NCBITaxon:11071 "GC_ID:1" MONDO:0014811 "OMIM:616875 UMLS:C4225172" MONDO:0006481 "A carcinoma that arises from epithelial cells of the ureter." "UMLS:C0600079 DOID:4939 EFO:1000609 NCIT:C8993 SCTID:448864006" http://identifiers.org/hgnc/47 http://identifiers.org/hgnc/28163 -MONDO:0005332 MONDO:0014374 "Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene." "OMIM:615862 DOID:0111125 Orphanet:655 UMLS:C3890591" MONDO:0013879 "OMIM:614743 Orphanet:88 UMLS:C3553622" http://identifiers.org/hgnc/24464 @@ -5770,9 +5763,9 @@ MONDO:0000849 "A syndrome that involves abnormality of collagen synthesis in lam MONDO:0045030 "SCTID:69980003 UMLS:C0267436" CHEBI:36963 "An organochalcogen compound containing at least one carbon-oxygen bond." MONDO:0002376 "A malignant vascular neoplasm arising from the spleen." "NCIT:C4564 UMLS:C0346424 DOID:265 SCTID:187821001 ICD9:159.1" -MONDO:0012796 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene." "UMLS:C2677516 MESH:C567422 DOID:0110376 ICD10:H35.5 GARD:0010379 OMIM:612095" +MONDO:0012796 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene." "UMLS:C2677516 MESH:C567422 DOID:0110376 GARD:0010379 OMIM:612095" MONDO:0009030 "UMLS:C1857530 OMIM:218200 MESH:C565672" -MONDO:0016539 "A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism)." "Orphanet:238523 ICD10:E72.0 UMLS:CN201620 OMIM:606407" +MONDO:0016539 "A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism)." "Orphanet:238523 ICD10CM:E72.0 UMLS:CN201620 OMIM:606407" MONDO:0005331 PATO:0002182 "A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc." MONDO:0009296 "OMIM:232900 UMLS:C0268220 SCTID:7810004 UMLS:C1856275 MESH:C565538" @@ -5784,22 +5777,22 @@ CL:0005009 "A cuboidal epithelial cell of the kidney which regulates sodium and MONDO:0013614 "UMLS:C3280065 Orphanet:293958 OMIM:614187" NCBITaxon:451507 "PMID:17051209 PMID:27738200 PMID:17010206 PMID:17572334 PMID:14715234 GC_ID:1" HP:0100033 "Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement." "UMLS:C2169806" -MONDO:0011218 "MESH:C536273 UMLS:C1835851 DOID:0060720 OMIM:602400 GARD:0010116 Orphanet:91132 ICD10:Q80.8" -MONDO:0016762 "Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family." "MESH:C537551 Orphanet:2535 UMLS:C2931531 GARD:0003636 ICD10:Q15.8" -MONDO:0011398 "Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." "UMLS:C1275114 Orphanet:89843 ICD9:757.39 MESH:C563192 ICD10:Q81.2 SCTID:403810008 OMIM:604129" +MONDO:0011218 "MESH:C536273 UMLS:C1835851 ICD10CM:Q80.8 DOID:0060720 OMIM:602400 GARD:0010116 Orphanet:91132" +MONDO:0016762 "Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family." "MESH:C537551 Orphanet:2535 UMLS:C2931531 GARD:0003636 ICD10CM:Q15.8" +MONDO:0011398 "Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." "UMLS:C1275114 ICD10CM:Q81.2 Orphanet:89843 ICD9:757.39 MESH:C563192 SCTID:403810008 OMIM:604129" MONDO:0004399 MONDO:0012416 "OMIM:610136 GARD:0010052 MESH:C535947 UMLS:C1857830" -MONDO:0015700 "A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection." "OMIM:609536 ICD10:D84.1 OMIM:613789 OMIM:610102 OMIM:613790 OMIM:612446 Orphanet:169150 OMIM:613825" +MONDO:0015700 "A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection." "OMIM:609536 OMIM:613789 OMIM:610102 ICD10CM:D84.1 OMIM:613790 OMIM:612446 Orphanet:169150 OMIM:613825" MONDO:0045031 http://identifiers.org/hgnc/20509 CHR:9606-chr7p11.2-p13 CHEBI:59871 "Zwitterionic form of a D-alpha-amino acid having an anionic carboxy group and a protonated amino group." http://identifiers.org/hgnc/24200 MONDO:0007995 "MESH:C563582 Orphanet:2542 OMIM:156850 UMLS:C1834919 GARD:0009610" -MONDO:0013615 "UMLS:C3280073 OMIM:614188 ICD10:Q87.0 Orphanet:284149" +MONDO:0013615 "UMLS:C3280073 OMIM:614188 ICD10CM:Q87.0 Orphanet:284149" HP:0000027 "Absence of any measurable level of sperm in his semen." "SNOMEDCT_US:425558002 UMLS:C0004509 SNOMEDCT_US:48188009 MSH:D053713" GO:0043902 "OBSOLETE. Any process that activates or increases the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species." -MONDO:0019144 "Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S." "Orphanet:743 OMIM:612336 ICD10:D68.5 OMIM:614514" +MONDO:0019144 "Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S." "ICD10CM:D68.5 Orphanet:743 OMIM:612336 OMIM:614514" GO:0031340 "Any process that activates or increases the frequency, rate or extent of vesicle fusion." MONDO:0021921 "UMLS:C2931492 GARD:0000366 MESH:C537431" MONDO:0000621 "A malignant neoplasm involving the immune system" "DOID:0060083" @@ -5807,17 +5800,17 @@ MONDO:0002166 "An extranodal lymphoma that arises from the rectum. The majority FOODON:03400148 "Milk in all forms, milk-based beverage, cultured milk product, or milk or milk product analog. Index infant formula under *MEAL REPLACEMENT*."@en "http://www.langual.org/langual_thesaurus.asp?termid=A0148" MONDO:0014341 "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene." "OMIM:615771 UMLS:C4014283 DOID:0090136" MONDO:0008930 "UMLS:C0007570 OMIM:212750" -MONDO:0021003 "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms." "OMIM:174200 ICD10:Q69.1 OMIM:174700 MedDRA:10036063 ICD10:Q69 ICD9:755.00 ICD10:Q69.0 OMIM:603596 ICD10:Q69.9 NCIT:C87110 OMIM:174500 ICD10:Q69.2 HP:0010442 ICD9:755.0 SCTID:367506006 DOID:1148" -MONDO:0021166 "A disease involving a pathogenic inflammatory response in the anatomical structure." "UMLS:C1290884 SCTID:128139000 NCIT:C93210 ICD9:799.89" +MONDO:0021003 "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms." "OMIM:174200 OMIM:174700 MedDRA:10036063 ICD9:755.00 OMIM:603596 NCIT:C87110 OMIM:174500 HP:0010442 ICD9:755.0 SCTID:367506006 DOID:1148" +MONDO:0021166 "A disease involving a pathogenic inflammatory response in the anatomical structure." "UMLS:C1290884 SCTID:128139000 NCIT:C93210 ICD9:799.89 ICD10CM:G00-G09" UBERON:0015148 -MONDO:0005279 "The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung." "SCTID:59282003 ICD10:I26.99 UMLS:C0034065 ICD9:415.19 NCIT:C50713 EFO:0003827 ICD10:I26 MESH:D011655 HP:0002204 DOID:9477" +MONDO:0005279 "The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung." "SCTID:59282003 UMLS:C0034065 ICD9:415.19 NCIT:C50713 EFO:0003827 ICD10CM:I26-I28 MESH:D011655 HP:0002204 DOID:9477" MONDO:0021087 GO:0009605 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus." -MONDO:0012728 "Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene." "OMIM:611777 Orphanet:130 UMLS:C2673193 ICD10:I49.8 MESH:C567087 DOID:0110219" +MONDO:0012728 "Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene." "OMIM:611777 Orphanet:130 UMLS:C2673193 MESH:C567087 DOID:0110219" CL:0000404 "A cell that initiates an electrical signal and passes that signal to another cell." HP:0002352 "This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells." "SNOMEDCT_US:22811006 MSH:D056784 UMLS:C0270612" GO:0060591 "The process in which a mesenchymal cell, acquires specialized structural and/or functional features of a chondroblast. Differentiation includes the processes involved in commitment of a cell to a chondroblast fate. A chondroblast is a precursor cell to chondrocytes." -MONDO:0017869 "Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates." "Orphanet:319195 ICD10:Q77.6" +MONDO:0017869 "Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates." "Orphanet:319195 ICD10CM:Q77.6" NCBITaxon:11072 "GC_ID:1" MONDO:0020720 "UMLS:C3540852 NCIT:C123265 MESH:D053098" MONDO:0021209 "A neoplasm (disease) that involves the heart." "GARD:0002619 NCIT:C3081 EFO:1001339" @@ -5828,12 +5821,12 @@ http://identifiers.org/hgnc/48 MONDO:0007730 "UMLS:C1840551 MESH:C564183 OMIM:142730" GO:1905216 "Any process that activates or increases the frequency, rate or extent of RNA binding." HP:0000859 "Overproduction of the mineralocorticoid aldosterone by the adrenal cortex." "UMLS:C0020428 MSH:D006929 SNOMEDCT_US:88213004" -MONDO:0017806 "15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly." "ICD10:Q87.3 UMLS:CN203769 Orphanet:314585 OMIM:614846" +MONDO:0017806 "15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly." "ICD10CM:Q87.3 UMLS:CN203769 Orphanet:314585 OMIM:614846" GO:0072369 "OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter." MONDO:0002838 NCBITaxon:72274 "GC_ID:11" MONDO:0021765 "An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path." "NCIT:C78581 ICD9:729.2 UMLS:C0034544 SCTID:82473003" -MONDO:0009973 "Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." "NCIT:C27070 DOID:0060020 MESH:C538361 GARD:0008625 Orphanet:33355 SCTID:111584000 OMIM:267500 ICD10:D81.0 UMLS:C0272167" +MONDO:0009973 "Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." "NCIT:C27070 DOID:0060020 MESH:C538361 GARD:0008625 Orphanet:33355 SCTID:111584000 OMIM:267500 UMLS:C0272167" MONDO:0006387 "A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis." "NCIT:C45605 UMLS:C1709666 EFO:1000495" UBERON:0015149 MONDO:0013065 "Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene." "OMIM:612964 UMLS:C2751825 MESH:C567838" @@ -5842,15 +5835,15 @@ UBERON:0010252 CHEBI:83812 "Any derivative of a non-proteinogenic amino acid resulting from reaction at an amino group or carboxy group, or from the replacement of any hydrogen by a heteroatom." CL:0000515 "A myoblast that differentiates into skeletal muscle fibers." "FMA:84799" MONDO:0001639 "UMLS:C0041782 SCTID:267513007 DOID:13121 ICD9:281.8 ICD9:281.9" -MONDO:0018542 "OMIM:610738 OMIM:202700 Orphanet:42738 OMIM:616022 OMIM:300299 OMIM:615285 MedDRA:10052210 Orphanet:86788 SCTID:89655007 OMIMPS:202700 OMIM:612541 DOID:0050590 Orphanet:486 ICD10:D70 OMIM:613107 ICD9:288.01" +MONDO:0018542 "OMIM:610738 OMIM:202700 Orphanet:42738 OMIM:616022 OMIM:300299 OMIM:615285 MedDRA:10052210 Orphanet:86788 SCTID:89655007 OMIMPS:202700 OMIM:612541 DOID:0050590 Orphanet:486 ICD10CM:D70 OMIM:613107 ICD9:288.01" MONDO:0020646 "A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type." "UMLS:C2981712 NCIT:C88145" -MONDO:0018916 "Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls." "OMIM:301800 OMIM:107100 MESH:C537771 OMIM:207500 ICD10:Q42.3 Orphanet:557 ICD10:Q42.1 ICD10:Q42.2 ICD10:Q42.0" +MONDO:0018916 "Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls." "OMIM:301800 MESH:C537771 OMIM:107100 OMIM:207500 Orphanet:557" GO:0006768 "The chemical reactions and pathways involving biotin, cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid; the (+) enantiomer is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions." -MONDO:0004611 "A primary or metastatic malignant neoplasm that affects the soft palate." "UMLS:C0153376 ICD10:C05.1 DOID:8578 ICD9:145.3 NCIT:C3529 SCTID:363388009" +MONDO:0004611 "A primary or metastatic malignant neoplasm that affects the soft palate." "UMLS:C0153376 DOID:8578 ICD9:145.3 NCIT:C3529 SCTID:363388009 ICD10CM:C05.1" MONDO:0009023 UBERON:0009014 MONDO:0016147 "UMLS:CN043595 Orphanet:207085" -MONDO:0013915 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene." "DOID:0090073 ICD10:E23.0 OMIM:614842 UMLS:C3541462" +MONDO:0013915 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene." "DOID:0090073 OMIM:614842 UMLS:C3541462" NBO:0000001 "A change of place or position of part of an organism that does not involve the entire organism [NBO:SMAC]" MONDO:0100469 "X-linked form of anosmia, isolated congenital." "OMIM:301700" MONDO:0011743 "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene." "GARD:0009469 DOID:0110040 MESH:C536596 UMLS:C1847200 NCIT:C123413 OMIM:606889" @@ -5859,35 +5852,35 @@ NBO:0000007 "The act of moving any of the tissues and hard structures surroundin MONDO:0017344 "Orphanet:289651" MONDO:0010274 "UMLS:C1846164 MESH:C564559 OMIM:300228" UBERON:0010253 -MONDO:0018927 "SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing)." "MESH:D050798 ICD10:G44.8 SCTID:725058003 GARD:0009257 UMLS:C1262087 Orphanet:57145 MedDRA:10061981 NCIT:C85174" +MONDO:0018927 "SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing)." "MESH:D050798 SCTID:725058003 GARD:0009257 UMLS:C1262087 Orphanet:57145 ICD10CM:G44.8 MedDRA:10061981 NCIT:C85174" MONDO:0009289 http://identifiers.org/hgnc/7549 SO:0000578 "A region that can be transcribed into a small nucleolar RNA (snoRNA)." UBERON:0007719 -MONDO:0016409 "Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." "Orphanet:226295 ICD10:E03.0 ICD10:E03.1" -MONDO:0001616 "A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol." "SCTID:47306003 UMLS:C0152066 ICD10:B48.0 DOID:13026 EFO:1001805 MESH:D060368 ICD9:116.2" +MONDO:0016409 "Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." "Orphanet:226295 ICD10CM:E03.0 ICD10CM:E03.1" +MONDO:0001616 "A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol." "ICD10CM:B48.0 SCTID:47306003 UMLS:C0152066 DOID:13026 EFO:1001805 MESH:D060368 ICD9:116.2" MONDO:0014975 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene." "OMIM:617225 Orphanet:513436 UMLS:C4310662" MONDO:0006529 UBERON:0009015 -MONDO:0018183 "Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated." "ICD10:J15.2 SCTID:763888005 Orphanet:36238" +MONDO:0018183 "Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated." "ICD10CM:J15.2 SCTID:763888005 Orphanet:36238" GO:0046504 "The chemical reactions and pathways resulting in the formation of glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol." HP:0006817 "Absence or underdevelopment of the vermis of cerebellum." "UMLS:C1855676 UMLS:C3280770" -MONDO:0018868 "A rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function." "OMIM:250100 OMIM:156310 UMLS:C0023522 OMIM:249900 ICD10:E75.25 MESH:D007966 ICD10:E75.29 Orphanet:512 DOID:10581 SCTID:66521008 ICD10:E75.2 NCIT:C61251 MedDRA:10067609" +MONDO:0018868 "A rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function." "OMIM:250100 OMIM:156310 UMLS:C0023522 OMIM:249900 MESH:D007966 ICD10CM:E75.2 Orphanet:512 DOID:10581 SCTID:66521008 NCIT:C61251 MedDRA:10067609" MONDO:0002658 "A malignant neoplasm involving the iris." "NCIT:C4554 EFO:1000996 UMLS:C0346372 UMLS:C0022079 NCIT:C3142 DOID:3478 SCTID:188264002" -MONDO:0013754 "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13." "UMLS:C3280798 Orphanet:90349 OMIM:614437 DOID:0070133 ICD10:Q82.8" +MONDO:0013754 "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13." "UMLS:C3280798 Orphanet:90349 OMIM:614437 DOID:0070133" UBERON:0010254 MONDO:0010273 "OMIM:300221 MESH:C538326 GARD:0009899 Orphanet:391" MONDO:0017345 "Orphanet:289656 UMLS:CN203006" -MONDO:0017917 "A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination." "ICD10:G11.4 Orphanet:320360" +MONDO:0017917 "A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination." "Orphanet:320360 ICD10CM:G11.4" GO:0042698 "The type of sexual cycle seen in females, often with physiologic changes in the endometrium that recur at regular intervals during the reproductive years." -MONDO:0009515 "Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." "OMIM:245900 UMLS:CN205883 SCTID:238091006 ICD10:E78.6 Orphanet:79293 NCIT:C84813 DOID:1391 GARD:0004011 SCTID:49227001 Orphanet:650" -MONDO:0003784 "A in situ carcinoma that involves the nasal cavity." "NCIT:C4589 ICD10:D02.3 SCTID:92663007 ICD9:231.8 DOID:6148 UMLS:C0347095" +MONDO:0009515 "Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." "OMIM:245900 UMLS:CN205883 SCTID:238091006 Orphanet:79293 NCIT:C84813 DOID:1391 GARD:0004011 SCTID:49227001 Orphanet:650 ICD10CM:E78.6" +MONDO:0003784 "A in situ carcinoma that involves the nasal cavity." "NCIT:C4589 SCTID:92663007 ICD9:231.8 DOID:6148 UMLS:C0347095" MONDO:0008454 "Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery." "OMIM:182990 Orphanet:2356 MESH:C536878 GARD:0009701" MONDO:0000786 "OBSOLETE. A allergy involving a Prunus domestica." "DOID:0060511" -MONDO:0016588 "Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia." "SCTID:66695004 ICD10:T56.1 MESH:D000170 UMLS:CN201782 Orphanet:247165" +MONDO:0016588 "Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia." "SCTID:66695004 ICD10CM:T56.1 MESH:D000170 UMLS:CN201782 Orphanet:247165" MONDO:0016145 "Orphanet:207073 UMLS:C2931687 GARD:0002031 GARD:0002003 MESH:C537995" -MONDO:0012903 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44." "ICD10:H90.3 DOID:0110502 OMIM:612433" -MONDO:0007787 "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." "OMIM:145701 Orphanet:1023 GARD:0008206 Orphanet:2222 UMLS:C1840362 DOID:0111060 ICD10:Q84.2" +MONDO:0012903 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44." "DOID:0110502 OMIM:612433" +MONDO:0007787 "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." "OMIM:145701 ICD10CM:Q84.2 Orphanet:1023 GARD:0008206 Orphanet:2222 UMLS:C1840362 DOID:0111060" MONDO:0007729 "OMIM:142700" UBERON:0006518 MONDO:0017342 "UMLS:CN203004 Orphanet:289638" @@ -5915,7 +5908,7 @@ MONDO:0100368 "A retinopathy, which may include conditions described as retiniti HP:0003581 "Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later." "UMLS:C1853562" GO:0034105 "Any process that activates or increases the frequency, rate, or extent of tissue remodeling." http://identifiers.org/hgnc/8743 -MONDO:0012905 "Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria." "ICD10:E75.2 MESH:C567314 OMIM:612438 DOID:0060798 GARD:0010917 Orphanet:139441 UMLS:C2676244" +MONDO:0012905 "Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria." "MESH:C567314 OMIM:612438 DOID:0060798 ICD10CM:E75.2 GARD:0010917 Orphanet:139441 UMLS:C2676244" UBERON:0005319 MONDO:0013117 "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene." "UMLS:C2751319 OMIM:613077 Orphanet:254892 MESH:C567768 DOID:0111518" MONDO:0008612 "Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene)." "OMIM:191100 GARD:0005380 Orphanet:805 NCIT:C75122 DOID:0080324" @@ -5926,15 +5919,15 @@ MONDO:0016143 "Orphanet:207067" MONDO:0032706 "OMIM:618369 DOID:0111616" MONDO:0000078 "A common presentation of craniosynostosis and polysyndactyly." "SCTID:205260006 UMLS:C0687154" MONDO:0018546 "Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs)." "SCTID:371089000 MESH:D020230 Orphanet:43116 MedDRA:10040108 EFO:1001842 ICD9:333.99" -MONDO:0020337 "Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." "SCTID:59548005 OMIM:615631 DOID:0111396 GARD:0002000 OMIM:224120 Orphanet:98869 ICD10:D64.4" +MONDO:0020337 "Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." "SCTID:59548005 OMIM:615631 DOID:0111396 GARD:0002000 ICD10CM:D64.4 OMIM:224120 Orphanet:98869" UBERON:0010257 HP:0001433 "Simultaneous enlargement of the liver and spleen." "SNOMEDCT_US:36760000 UMLS:C0019214" http://identifiers.org/hgnc/18550 -MONDO:0016290 "A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait." "MESH:C538112 ICD10:Q87.8 Orphanet:2139 GARD:0003491 SCTID:721146009" +MONDO:0016290 "A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait." "MESH:C538112 Orphanet:2139 GARD:0003491 SCTID:721146009 ICD10CM:Q87.8" MONDO:0008088 "OMIM:162600 UMLS:C1834180 MESH:C563516" MONDO:0009027 "OMIM:218050" MONDO:0021583 "A melanocytic neoplasm that involves the zone of skin." "UMLS:C0349501 NCIT:C7161" -MONDO:0018594 "Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV)." "UMLS:CN237624 ICD10:M30.8 Orphanet:439746" +MONDO:0018594 "Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV)." "UMLS:CN237624 Orphanet:439746 ICD10CM:M30.8" MONDO:0018151 "A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency." "NCIT:C142083 OMIMPS:607426 UMLS:C1843920 SCTID:724575009 OMIM:607426 GARD:0010423 DOID:0050730 OMIM:612016 OMIM:614651 MESH:C564403 Orphanet:35656 OMIM:614650 OMIM:614654 UMLS:CN229570 OMIM:614652" UBERON:0015154 FOODON:03400164 "Milk, a product derived from milk, or a dairy product analog; includes cheese and frozen dairy desserts. [FDA CFSAN 1995]"@en "http://www.langual.org/langual_thesaurus.asp?termid=A0164" @@ -5942,16 +5935,16 @@ MONDO:0006469 "An adamantinoma arising from the tibia. The tibia is the site whi MONDO:0012673 "OMIM:611469" GO:0032941 "The controlled release of a substance by a tissue." MONDO:0008089 "GARD:0003983 OMIM:162700 MESH:C535815 ICD9:288.09 SCTID:234576008 UMLS:C3665676" -MONDO:0012280 "Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability." "SCTID:717822006 UMLS:C1836123 OMIM:609460 DOID:0060481 GARD:0009849 MESH:C537279 Orphanet:66629 ICD10:Q87.8" +MONDO:0012280 "Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability." "SCTID:717822006 UMLS:C1836123 OMIM:609460 DOID:0060481 GARD:0009849 MESH:C537279 ICD10CM:Q87.8 Orphanet:66629" CL:0002144 "An endothelial cell found in capillaries." "CALOHA:TS-0112 BTO:0004956 FMA:67756" -MONDO:0018893 "Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution." "ICD9:239.2 UMLS:C0346068 Orphanet:53721 NCIT:C4485 MedDRA:10068841 SCTID:254774003 GARD:0011892 ICD10:Q27.3" -MONDO:0007724 "Orphanet:2156 ICD10:Q87.8 MESH:C536705 GARD:0005566 UMLS:C0795976 OMIM:142625" +MONDO:0018893 "Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution." "ICD10CM:Q27.3 ICD9:239.2 UMLS:C0346068 Orphanet:53721 NCIT:C4485 MedDRA:10068841 SCTID:254774003 GARD:0011892" +MONDO:0007724 "Orphanet:2156 MESH:C536705 ICD10CM:Q87.8 GARD:0005566 UMLS:C0795976 OMIM:142625" MONDO:0011609 "An atopic dermatitis associated with variation in the region 5q31-q33." "UMLS:C1853899 MESH:C565279 OMIM:605845 DOID:0110102" GO:0032108 "Any process that stops, prevents, or reduces the frequency, rate or extent of a response to nutrient levels." -MONDO:0012581 "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene." "OMIM:610915 Orphanet:216812 Orphanet:216804 GARD:0010152 Orphanet:666 ICD10:Q78.0 DOID:0110336 MESH:C536049" +MONDO:0012581 "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene." "OMIM:610915 ICD10CM:Q78.0 Orphanet:216812 Orphanet:216804 GARD:0010152 Orphanet:666 DOID:0110336 MESH:C536049" MONDO:0016142 "HGNC:10806 GARD:0000870 Orphanet:207063 MESH:C535435 UMLS:C2930900" GO:0060474 "The process in which the controlled movement of a flagellated sperm cell is initiated as part of the process required for flagellated sperm to reach fertilization competence." -MONDO:0013840 "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound." "OMIM:614654 ICD10:E88.8 DOID:0070242 UMLS:C3553374 Orphanet:319678" +MONDO:0013840 "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound." "ICD10CM:E88.8 OMIM:614654 DOID:0070242 UMLS:C3553374 Orphanet:319678" MONDO:0032705 "OMIM:618367 Orphanet:597874" UBERON:0010259 http://identifiers.org/hgnc/9942 @@ -5959,8 +5952,8 @@ MONDO:0020224 "OBSOLETE. Rare cataract." "Orphanet:98640" UBERON:0010258 MONDO:0017341 "Orphanet:289635 UMLS:CN203003" GO:1902533 "Any process that activates or increases the frequency, rate or extent of intracellular signal transduction." -MONDO:0001225 "A substance abuse that involves the recurring use of opioid drugs despite negative consequences." "SCTID:5602001 DOID:11206 ICD9:305.5 ICD10:F11.1" -MONDO:0008927 "OMIM:212550 Orphanet:435930 MESH:C565876 Orphanet:2542 DOID:0080635 ICD10:Q14.8 UMLS:CN237578" +MONDO:0001225 "A substance abuse that involves the recurring use of opioid drugs despite negative consequences." "SCTID:5602001 DOID:11206 ICD9:305.5" +MONDO:0008927 "OMIM:212550 Orphanet:435930 MESH:C565876 Orphanet:2542 DOID:0080635 UMLS:CN237578 ICD10CM:Q14.8" MONDO:0004312 "A meningioma that affects the suprasellar region." "DOID:7634 NCIT:C6776 UMLS:C1336535" http://identifiers.org/hgnc/14857 HP:0002094 "Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale." "SNOMEDCT_US:267036007 MSH:D004417 SNOMEDCT_US:230145002 UMLS:C0013404" @@ -5978,13 +5971,13 @@ GO:0099003 "Any vesicle-mediated transport that occurs in a synapse." http://identifiers.org/hgnc/25671 MONDO:0003463 "A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma." "DOID:5480 NCIT:C27287 ICDO:8380/0 UMLS:C2212024 ICDO:8381/0" GO:0001912 "Any process that activates or increases the frequency, rate or extent of leukocyte mediated cytotoxicity." -MONDO:0009729 "Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive." "UMLS:C1850553 GARD:0003940 MESH:C536401 OMIM:256120 SCTID:724093004 Orphanet:2668 ICD10:Q87.8" -MONDO:0001657 "A primary or metastatic malignant neoplasm affecting the brain." "ICD9:191.8 MESH:D001932 DOID:1319 ICD9:191.9 NCIT:C4952 GARD:0009307 ICD10:C71 NCIT:C3568 ICD10:C71.9 SCTID:428061005 NCIT:C2907 ICD9:239.6 CSP:2006-2736 ICD9:191" +MONDO:0009729 "Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive." "UMLS:C1850553 GARD:0003940 MESH:C536401 OMIM:256120 SCTID:724093004 Orphanet:2668 ICD10CM:Q87.8" +MONDO:0001657 "A primary or metastatic malignant neoplasm affecting the brain." "ICD9:191.8 MESH:D001932 DOID:1319 ICD9:191.9 NCIT:C4952 GARD:0009307 NCIT:C3568 SCTID:428061005 NCIT:C2907 ICD9:239.6 CSP:2006-2736 ICD9:191" http://identifiers.org/hgnc/20778 UBERON:0015152 CL:1001567 MONDO:0019097 "OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which occurs from birth." "Orphanet:71202 UMLS:CN227572" -MONDO:0011396 "A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission." "UMLS:C1858805 ICD10:Q82.8 SCTID:717183001 OMIM:604117 Orphanet:79395 MESH:C565826" +MONDO:0011396 "A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission." "UMLS:C1858805 SCTID:717183001 ICD10CM:Q82.8 OMIM:604117 Orphanet:79395 MESH:C565826" http://identifiers.org/hgnc/6345 CL:1001568 "BTO:0001141" CL:0002596 "Smooth muscle cell of the carotid artery." @@ -5995,14 +5988,14 @@ HP:0012116 "Deviation from normal concentration of albumin in the blood." "UMLS: GO:0002441 "The regulated release of histamine by a cell as part of an inflammatory response." MONDO:0013998 "Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene." "UMLS:C3554247 OMIM:614976 Orphanet:65759" MONDO:0003644 "A cavernous hemangioma arising from the colon." "UMLS:C1333086 DOID:5775 NCIT:C5395" -MONDO:0019659 "Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development." "Orphanet:93258 ICD10:Q87.0 UMLS:CN206533" +MONDO:0019659 "Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development." "Orphanet:93258 ICD10CM:Q87.0 UMLS:CN206533" GO:0009108 "OBSOLETE. The chemical reactions and pathways resulting in the formation of coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed." MONDO:0002038 "A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." "NCIT:C35850 UMLS:C1334927 UMLS:C3887461 DOID:1542" http://identifiers.org/hgnc/5147 MONDO:0014322 "Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene." "UMLS:C3810376 OMIM:615724" GO:1900047 "Any process that stops, prevents or reduces the frequency, rate or extent of hemostasis." HP:0001097 "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." "UMLS:C2930821 UMLS:C0013238 MSH:D007638 MSH:D015352 SNOMEDCT_US:302896008 UMLS:C0043349 SNOMEDCT_US:46152009 MSH:C531719 MSH:D014985 SNOMEDCT_US:363677007 UMLS:C0022575" -MONDO:0014386 "Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported." "DOID:0111051 Orphanet:420566 UMLS:C4014584 ICD10:D69.1 OMIM:615888" +MONDO:0014386 "Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported." "DOID:0111051 Orphanet:420566 ICD10CM:D69.1 UMLS:C4014584 OMIM:615888" GO:0022405 "A multicellular organismal process involved in the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body." HP:0000023 "Protrusion of the contents of the abdominal cavity through the inguinal canal." "SNOMEDCT_US:396232000 MSH:D006552 MEDDRA:10022016 UMLS:C0019294" HP:0002090 "Inflammation of any part of the lung parenchyma." "UMLS:C0032285 MSH:D011014 SNOMEDCT_US:233604007" @@ -6025,29 +6018,29 @@ MONDO:0030308 "OMIM:619381" MONDO:0006178 "A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma." "EFO:1000214 UMLS:C2699572 NCIT:C79948" UBERON:0004118 GO:0009107 "The chemical reactions and pathways resulting in the formation of lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid." -MONDO:0008114 "A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety." "SCTID:191736004 ICD10:F42 DOID:10933 MESH:D009771 EFO:0004242 OMIM:164230 ICD9:300.3 NCIT:C88411" -MONDO:0019746 "Orphanet:93613 OMIM:220100 UMLS:C1857389 ICD10:E72.0" +MONDO:0008114 "A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety." "SCTID:191736004 DOID:10933 MESH:D009771 EFO:0004242 OMIM:164230 ICD10CM:F42 ICD9:300.3 NCIT:C88411" +MONDO:0019746 "Orphanet:93613 ICD10CM:E72.0 OMIM:220100 UMLS:C1857389" GO:0016012 "A protein complex formed of four sarcoglycans plus sarcospan; there are six known sarcoglycans: alpha-, beta-, gamma-, delta-, epsilon- and zeta-sarcoglycan; all are N-glycosylated single-pass transmembrane proteins. The sarcoglycan-sarcospan complex is a subcomplex of the dystrophin glycoprotein complex, and is fixed to the dystrophin axis by a lateral association with the dystroglycan complex." MONDO:0021541 "A hemangioma that involves the retina." "ICD9:228.03 NCIT:C3634 UMLS:C0154051 SCTID:93470007" UBERON:0005317 -MONDO:0001823 "A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction." "SCTID:36083008 MESH:D012804 NCIT:C62244 Orphanet:166282 DOID:13884 ICD10:I49.5" -MONDO:0013577 "Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema." "MedDRA:10063955 ICD10:E65 MESH:D065134 HP:0100695 Orphanet:77243 OMIM:614103 SCTID:234102003" -MONDO:0003619 "Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy." "NCIT:C26880 ICD10:N70.91 DOID:5733 MESH:D012488 SCTID:88157006 UMLS:C0036130" -MONDO:0020557 "A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course." "ICD10:C34.9 ICD10:C34.3 ICD10:C34.2 ICD10:C34.8 ICD10:C34.1 SCTID:707673006 Orphanet:99935 NCIT:C45628 ICD9:162.9 UMLS:CN207459" +MONDO:0001823 "A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction." "SCTID:36083008 MESH:D012804 NCIT:C62244 Orphanet:166282 ICD10CM:I49.5 DOID:13884" +MONDO:0013577 "Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema." "MedDRA:10063955 MESH:D065134 HP:0100695 Orphanet:77243 OMIM:614103 SCTID:234102003 ICD10CM:E65" +MONDO:0003619 "Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy." "NCIT:C26880 DOID:5733 MESH:D012488 SCTID:88157006 UMLS:C0036130" +MONDO:0020557 "A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course." "SCTID:707673006 Orphanet:99935 NCIT:C45628 ICD9:162.9 UMLS:CN207459" CL:0002047 "A precursor B cell that is CD45RA-positive, CD43-positive, CD24-positive and BP-1-negative." http://identifiers.org/hgnc/29105 MONDO:0000695 UBERON:0004119 -MONDO:0017364 "POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels." "UMLS:C0085404 MedDRA:10053869 MESH:D016878 ICD10:D47.7 Orphanet:2905 NCIT:C80303 EFO:1001115 SCTID:79268002 GARD:0007411 DOID:14039" +MONDO:0017364 "POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels." "UMLS:C0085404 MedDRA:10053869 MESH:D016878 Orphanet:2905 NCIT:C80303 EFO:1001115 SCTID:79268002 GARD:0007411 DOID:14039" IAO:0000027 "a data item is an information content entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements."@en -MONDO:0013038 "CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi." "SCTID:719475006 MESH:C567863 GARD:0010939 DOID:0080351 OMIM:612918 ICD10:Q87.3 UMLS:C2752042 Orphanet:140944 GARD:10939" +MONDO:0013038 "CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi." "SCTID:719475006 MESH:C567863 ICD10CM:Q87.3 GARD:0010939 DOID:0080351 OMIM:612918 UMLS:C2752042 Orphanet:140944 GARD:10939" MONDO:0009029 "OMIM:218100 MESH:C565673 UMLS:C1857531" -MONDO:0012323 "Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters." "ICD10:Q81.0 MESH:C535493 Orphanet:158687 OMIM:609638 UMLS:C1864826 GARD:0009910" -MONDO:0002332 "A disease involving the spleen." "NCIT:C35823 DOID:2529 ICD9:289.50 ICD10:D73.9 UMLS:C0037997 MESH:D013158 SCTID:51244008 SCTID:58381000 EFO:0009002 ICD10:D73" +MONDO:0012323 "Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters." "MESH:C535493 Orphanet:158687 OMIM:609638 UMLS:C1864826 ICD10CM:Q81.0 GARD:0009910" +MONDO:0002332 "A disease involving the spleen." "NCIT:C35823 DOID:2529 ICD9:289.50 UMLS:C0037997 MESH:D013158 SCTID:51244008 SCTID:58381000 ICD10CM:D73 EFO:0009002" MONDO:0032703 "OMIM:618363" MONDO:0000954 "A cancer involving a Meckel's diverticulum." "ICD9:152.3 DOID:10152 SCTID:187752007 UMLS:C0153429" MONDO:0018549 "Orphanet:431263 UMLS:CN237548" -MONDO:0010936 "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene." "MESH:C579991 DOID:0060208 UMLS:C1833296 ICD9:331.19 MESH:C563708 OMIM:600795 OMIM:614696 SCTID:702393003 Orphanet:275864 Orphanet:803 Orphanet:282 UMLS:C1836076 DOID:0111227" +MONDO:0010936 "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene." "OMIM:600795 DOID:0111227 MESH:C579991 OMIM:614696 UMLS:C1833296 MESH:C563708 SCTID:702393003 DOID:0060208 Orphanet:803 ICD9:331.19 Orphanet:282 UMLS:C1836076 Orphanet:275864" HP:0003474 "An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing." "SNOMEDCT_US:397974008 MSH:D006987 UMLS:C0020580 SNOMEDCT_US:59073000 SNOMEDCT_US:398026008" http://identifiers.org/hgnc/29106 http://identifiers.org/hgnc/12450 @@ -6055,20 +6048,20 @@ CHR:9606-chr6q24-q25 NCBITaxon:1113537 "PMID:11211265 PMID:23620152 PMID:21048222 GC_ID:11 PMID:10319462 PMID:21048221" PATO:0001306 "A temperature which is relatively low." CHEBI:79387 "Any inorganic anion with a valency of three." -MONDO:0015313 "Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth." "UMLS:CN199281 ICD10:Q30.0 Orphanet:137920" +MONDO:0015313 "Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth." "UMLS:CN199281 ICD10CM:Q30.0 Orphanet:137920" MONDO:0019748 "UMLS:CN227685 Orphanet:93618" CHEBI:38234 "Any inhibitor of a DNA polymerase." MONDO:0008929 http://identifiers.org/hgnc/20773 GO:0090205 "Any process that increases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones." MONDO:0002034 "An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas." "NCIT:C5515 UMLS:C1332867 DOID:1522" -MONDO:0012670 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene." "DOID:0110515 ICD10:H90.3 MESH:C566951 OMIM:611451 UMLS:C1969621" +MONDO:0012670 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene." "DOID:0110515 MESH:C566951 OMIM:611451 UMLS:C1969621" GO:0099512 "A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure." GO:0044149 "Any process that activates or increases the frequency, rate or extent of the progression of an organism from an initial condition to a later condition, occurring in, on or near the exterior of its host organism." http://identifiers.org/hgnc/9949 GO:0070124 "The process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. This includes the formation of a complex of the ribosome, mRNA, and an initiation complex that contains the first aminoacyl-tRNA." UBERON:0005311 -MONDO:0008541 "An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue." "UMLS:C0037856 DOID:11996 MESH:D013086 SCTID:81996005 ICD10:N44.0 ICD10:N44.00 ICD9:608.2 OMIM:187400 ICD9:608.20 ICD10:N44.02 NCIT:C26885" +MONDO:0008541 "An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue." "UMLS:C0037856 DOID:11996 MESH:D013086 SCTID:81996005 ICD9:608.2 OMIM:187400 ICD9:608.20 NCIT:C26885" UBERON:5001463 UBERON:0004379 UBERON:0004113 @@ -6077,41 +6070,41 @@ http://identifiers.org/hgnc/1455 MONDO:0019743 "UMLS:CN206659 Orphanet:93593" UBERON:0009010 UBERON:0012652 -MONDO:0009070 "A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21." "NCIT:C128804 ICD10:E74.8 DOID:0111626 UMLS:C0342765 MESH:C535767 OMIM:220120 SCTID:237980004 GARD:0000234 UMLS:C1291386 Orphanet:941" -MONDO:0008857 "Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." "ICD10:Q87.8 GARD:0000846 Orphanet:1237 UMLS:C1859526 SCTID:717859007 OMIM:209970 MESH:C537668" +MONDO:0009070 "A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21." "NCIT:C128804 DOID:0111626 ICD10CM:E74.8 UMLS:C0342765 MESH:C535767 OMIM:220120 SCTID:237980004 GARD:0000234 UMLS:C1291386 Orphanet:941" +MONDO:0008857 "Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." "GARD:0000846 Orphanet:1237 UMLS:C1859526 SCTID:717859007 OMIM:209970 MESH:C537668 ICD10CM:Q87.8" MONDO:0000692 UBERON:0001619 http://identifiers.org/hgnc/2652 http://identifiers.org/hgnc/11257 GO:0093001 "The chemical reactions and pathways resulting in the breakdown of a storage polysaccharide into pyruvate through a glucose-1-phosphate intermediate, with the concomitant production of a small amount of ATP and the reduction of NAD to NADH." -MONDO:0008051 "Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported." "Orphanet:2593 DOID:0080089 OMIM:615883 OMIM:160565 GARD:0003884 ICD10:G71.2 OMIMPS:160565" -MONDO:0019774 "Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "Orphanet:93970 UMLS:CN206715 OMIM:309580 ICD10:Q87.0" -MONDO:0015606 "Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated." "UMLS:CN199978 ICD10:Q99.8 GARD:0013170 Orphanet:1643 SCTID:726733007" +MONDO:0008051 "Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported." "Orphanet:2593 DOID:0080089 OMIM:615883 ICD10CM:G71.2 OMIM:160565 GARD:0003884 OMIMPS:160565" +MONDO:0019774 "Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "Orphanet:93970 UMLS:CN206715 OMIM:309580 ICD10CM:Q87.0" +MONDO:0015606 "Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated." "UMLS:CN199978 ICD10CM:Q99.8 GARD:0013170 Orphanet:1643 SCTID:726733007" MONDO:0100435 "DOID:0090005 OMIM:255800" MONDO:0012691 "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene." "Orphanet:500 UMLS:C1969056 OMIM:611554 MESH:C537117 DOID:0080549" MONDO:0001891 -MONDO:0000938 "A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT)." "DOID:10087 NCIT:C3876 UMLS:C0238440 SCTID:276812001" -MONDO:0003472 "A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash." "UMLS:C0030756 NCIT:C128401 UMLS:C0277351 ICD9:132.9 UMLS:C0153317 MESH:D010373 DOID:5502 ICD10:B85.2" +MONDO:0000938 "A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT)." "DOID:10087 NCIT:C3876 SCTID:276812001 UMLS:C0238440" +MONDO:0003472 "A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash." "ICD10CM:B85.2 UMLS:C0030756 NCIT:C128401 UMLS:C0277351 ICD9:132.9 UMLS:C0153317 MESH:D010373 DOID:5502" UBERON:0004114 -MONDO:0019742 "Orphanet:93589 ICD10:Q61.5" -MONDO:0017443 "Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end." "Orphanet:294979 ICD10:Q71.2" +MONDO:0019742 "Orphanet:93589 ICD10CM:Q61.5" +MONDO:0017443 "Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end." "ICD10CM:Q71.2 Orphanet:294979" MONDO:0014843 "Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene." "UMLS:C4310783 OMIM:616946" UBERON:0012651 -MONDO:0019008 "Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC)." "OMIM:605479 OMIMPS:243300 DOID:0070230 OMIM:243300 ICD10:K83.1 GARD:0012185 SCTID:31155007 Orphanet:65682 UMLS:C0149841" +MONDO:0019008 "Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC)." "ICD10CM:K83.1 OMIM:605479 OMIMPS:243300 DOID:0070230 OMIM:243300 GARD:0012185 SCTID:31155007 Orphanet:65682 UMLS:C0149841" GO:0050794 "Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level." -MONDO:0019115 "Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function." "UMLS:C4273958 ICD10:E66.8 NCIT:C120394 SCTID:717269008 OMIM:601665 Orphanet:71529" +MONDO:0019115 "Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function." "UMLS:C4273958 ICD10CM:E66.8 NCIT:C120394 SCTID:717269008 OMIM:601665 Orphanet:71529" GO:0000784 NCBITaxon:291484 "GC_ID:1" MONDO:0011470 "MESH:C565766 OMIM:604499 UMLS:C1858308" CHEBI:61951 "Any substance that interacts with tubulin to inhibit polymerisation of microtubules." MONDO:0000691 MONDO:0016149 "Orphanet:207094" -MONDO:0006718 "Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" "ICD10:A50.06 EFO:1000887 MESH:D013591" +MONDO:0006718 "Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" "EFO:1000887 MESH:D013591" GO:0035932 "The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney." -MONDO:0002012 "A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease." "UMLS:C1855119 NCIT:C98986 GARD:0007033 DOID:14749 UMLS:C0268583 SCTID:42393006 ICD9:270.7 ICD10:E71.120" -MONDO:0017147 "Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH." "Orphanet:275766 ICD9:416.0 UMLS:CN202574 SCTID:697898008 MedDRA:10065151 UMLS:C3203102 ICD10:I27.0" +MONDO:0002012 "A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease." "UMLS:C1855119 ICD10CM:E71.120 NCIT:C98986 GARD:0007033 DOID:14749 UMLS:C0268583 SCTID:42393006 ICD9:270.7" +MONDO:0017147 "Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH." "Orphanet:275766 ICD9:416.0 UMLS:CN202574 ICD10CM:I27.0 SCTID:697898008 MedDRA:10065151 UMLS:C3203102" MONDO:0030300 "OMIM:619371" -MONDO:0019745 "MESH:C565652 ICD10:E72.0 OMIM:220100 Orphanet:93612" +MONDO:0019745 "MESH:C565652 OMIM:220100 Orphanet:93612 ICD10CM:E72.0" MONDO:0020989 "The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin." "NCIT:C129072 ICD9:282.7 SCTID:191201002 UMLS:C0019025" UBERON:0004115 MONDO:0010272 @@ -6132,7 +6125,7 @@ http://identifiers.org/hgnc/10057 UBERON:0004116 MONDO:0011367 "A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally." "GARD:0010076 UMLS:C1863556 OMIM:603740 MESH:C538181" MONDO:0010501 "Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported." "Orphanet:466791 DOID:0060817 OMIM:300967" -MONDO:0013184 "Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure." "MESH:C567703 ICD10:P78.3 Orphanet:92050 DOID:0060776 UMLS:C2750737 GARD:0010630 SCTID:715669000 UMLS:C4275062 OMIM:613217" +MONDO:0013184 "Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure." "MESH:C567703 Orphanet:92050 DOID:0060776 UMLS:C2750737 GARD:0010630 ICD10CM:P78.3 SCTID:715669000 UMLS:C4275062 OMIM:613217" CHEBI:25213 http://identifiers.org/hgnc/18308 SO:0000663 "A region that can be transcribed into a transfer RNA (tRNA)." @@ -6145,15 +6138,15 @@ CHEBI:26677 MONDO:0020718 "OMIM:615237 Orphanet:2301 UMLS:C0021847" MONDO:0010313 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene." "UMLS:C1845672 GARD:0005613 OMIM:300387 MESH:C564522" UBERON:0004375 -MONDO:0005901 "Infections with bacteria of the genus pasteurella." "UMLS:C0030636 ICD10:A28.0 ICD9:027.2 DOID:11055 MESH:D010326 SCTID:83172007 EFO:0007424" +MONDO:0005901 "Infections with bacteria of the genus pasteurella." "UMLS:C0030636 ICD9:027.2 DOID:11055 MESH:D010326 SCTID:83172007 ICD10CM:A28.0 EFO:0007424" HP:0033479 NCBITaxon:3749 "GC_ID:1" NCBITaxon:44542 "GC_ID:1" MONDO:0010102 "This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families." "UMLS:C1848909 GARD:0005118 MESH:C536945 Orphanet:2731 OMIM:272980" -MONDO:0019416 "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23." "Orphanet:85317 UMLS:CN206172 ICD10:Q87.8" -MONDO:0012528 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene." "OMIM:610628 DOID:0090077 MESH:C565696 GARD:0010772 UMLS:C3552343 Orphanet:478 ICD10:E23.0" +MONDO:0019416 "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23." "ICD10CM:Q87.8 Orphanet:85317 UMLS:CN206172" +MONDO:0012528 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene." "OMIM:610628 DOID:0090077 MESH:C565696 GARD:0010772 UMLS:C3552343 Orphanet:478" NCBITaxon:11086 "GC_ID:1" -MONDO:0007574 "Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." "OMIM:133190 SCTID:719255000 Orphanet:1955 DOID:0050981 GARD:0000059 MESH:C535738 ICD10:G11.1 UMLS:C1851481" +MONDO:0007574 "Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes." "OMIM:133190 SCTID:719255000 Orphanet:1955 DOID:0050981 ICD10CM:G11.1 GARD:0000059 MESH:C535738 UMLS:C1851481" MONDO:0100390 "Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)" "NCIT:C173542" GO:0032270 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell." GO:0140245 "Any process that regulates translation occurring at the postsynapse." @@ -6163,44 +6156,44 @@ MONDO:0000297 "An infection that is caused by the raccoon nematode Baylisascaris MONDO:0020719 UBERON:0002813 NCBITaxon:5042 "GC_ID:1" -MONDO:0000665 "Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition." "DOID:0060135 MESH:D001072 GARD:0005838 ICD10:R48.2" +MONDO:0000665 "Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition." "DOID:0060135 MESH:D001072 GARD:0005838 ICD10CM:R48.2" MONDO:0006307 "An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry." "NCIT:C45927 EFO:1000383 UMLS:C1709052" UBERON:0004376 MONDO:0023211 -MONDO:0008741 "PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." "ICD10:Q87.8 GARD:0003086 OMIM:202660 Orphanet:991 UMLS:C1859967 SCTID:722132007 MESH:C537018" +MONDO:0008741 "PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." "GARD:0003086 OMIM:202660 Orphanet:991 ICD10CM:Q87.8 UMLS:C1859967 SCTID:722132007 MESH:C537018" NCBITaxon:11089 "GC_ID:1" MONDO:0001647 "ICD9:405.11 DOID:13145" -MONDO:0009281 "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." "MESH:C536833 ICD10:E72.3 SCTID:76175005 NCIT:C99101 Orphanet:25 OMIM:231670 UMLS:C0268595 GARD:0006522 DOID:0111254" +MONDO:0009281 "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." "UMLS:C0268595 SCTID:76175005 ICD10CM:E72.3 NCIT:C99101 MESH:C536833 OMIM:231670 GARD:0006522 Orphanet:25 DOID:0111254" MONDO:0024265 "Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery." "GARD:0010763 UMLS:C0013261 SCTID:128082002 OMIM:126800 Orphanet:233" -MONDO:0008322 "Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis." "GARD:0004540 OMIM:177170 NCIT:C118635 SCTID:22567005 Orphanet:750 MESH:C535819 UMLS:C0410538 ICD10:Q77.8 DOID:0080047 ICD9:756.9" +MONDO:0008322 "Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis." "GARD:0004540 OMIM:177170 NCIT:C118635 SCTID:22567005 Orphanet:750 MESH:C535819 UMLS:C0410538 DOID:0080047 ICD10CM:Q77.8 ICD9:756.9" GO:0003332 "Any process that decreases the rate, frequency, or extent the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells." -MONDO:0011681 "Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." "UMLS:C1847843 MESH:C564698 Orphanet:79136 ICD10:G11.8 DOID:0050992 SCTID:718754008 OMIM:606552" -MONDO:0012258 "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." "Orphanet:158681 MESH:C563730 SCTID:716700003 UMLS:C1836284 ICD10:Q81.0 OMIM:609352" +MONDO:0011681 "Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." "UMLS:C1847843 MESH:C564698 Orphanet:79136 DOID:0050992 SCTID:718754008 ICD10CM:G11.8 OMIM:606552" +MONDO:0012258 "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." "Orphanet:158681 MESH:C563730 SCTID:716700003 ICD10CM:Q81.0 UMLS:C1836284 OMIM:609352" MONDO:0014007 "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene." "OMIM:615010 Orphanet:51 UMLS:C3539013" UBERON:0004377 GO:0045779 "Any process that stops, prevents, or reduces the frequency, rate or extent of bone resorption." MONDO:0002844 "DOID:4035 SCTID:360375007 ICD9:535.40 UMLS:C1283271 NCIT:C27051" GO:0030182 "The process in which a relatively unspecialized cell acquires specialized features of a neuron." -MONDO:0005854 "Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms." "MESH:D008947 SCTID:398049005 Orphanet:809 MedDRA:10027754 NCIT:C84892 GARD:0007051 DOID:3492 ICD10:M35.1 EFO:0007374 UMLS:C0026272" +MONDO:0005854 "Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms." "MESH:D008947 SCTID:398049005 Orphanet:809 MedDRA:10027754 NCIT:C84892 GARD:0007051 DOID:3492 EFO:0007374 UMLS:C0026272" CL:0000894 "A pro-T cell that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative." HP:0001743 "An abnormality of the spleen." "UMLS:C4025749" -MONDO:0019941 "Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia." "OMIM:614213 PMID:21089229 Orphanet:970 OMIM:201300 GARD:3976 OMIM:613115 ICD10:G60.8 DOID:0070161 OMIM:243000 SCTID:398148000 GARD:0003976" -MONDO:0011599 "Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia." "GARD:0005926 SCTID:231981005 UMLS:C0339402 MESH:C537630 Orphanet:179 DOID:0111079 OMIM:605808 ICD10:H30.1 UMLS:C1853959" +MONDO:0019941 "Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia." "OMIM:614213 PMID:21089229 Orphanet:970 OMIM:201300 GARD:3976 OMIM:613115 DOID:0070161 ICD10CM:G60.8 OMIM:243000 SCTID:398148000 GARD:0003976" +MONDO:0011599 "Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia." "GARD:0005926 ICD10CM:H30.1 SCTID:231981005 UMLS:C0339402 MESH:C537630 Orphanet:179 DOID:0111079 OMIM:605808 UMLS:C1853959" MONDO:0005718 "Virus diseases caused by coronaviridae." "EFO:0007223 UMLS:C0010078" UBERON:0004111 -MONDO:0002314 "Conjunctivitis that is persistent and long-standing." "DOID:2475 ICD10:H10.4 UMLS:C0155145 ICD10:H10.40 SCTID:73762008 ICD9:372.1 NCIT:C35197 ICD9:372.10" -MONDO:0012445 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene." "UMLS:C1857744 ICD10:H90.3 DOID:0110511 OMIM:610220 MESH:C565698" +MONDO:0002314 "Conjunctivitis that is persistent and long-standing." "DOID:2475 UMLS:C0155145 ICD10CM:H10.4 SCTID:73762008 ICD9:372.1 NCIT:C35197 ICD9:372.10" +MONDO:0012445 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene." "UMLS:C1857744 DOID:0110511 OMIM:610220 MESH:C565698" UBERON:0005310 UBERON:0004378 CHEBI:132153 "A carbohydrate acid derivative anion obtained by deprotonation of the carboxy groups of hyaluronic acid; major species at pH 7.3." -MONDO:0011118 "An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003" "UMLS:C0349680 ICD10:C95.0 Orphanet:98836 NCIT:C6923" +MONDO:0011118 "An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003" "UMLS:C0349680 Orphanet:98836 ICD10CM:C95.0 NCIT:C6923" GO:0010977 "Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites)." ENVO:00000428 "A biome is an ecosystem to which resident ecological communities have evolved adaptations." MONDO:0024676 "A Wilms tumor of the kidney which occurs in children." "NCIT:C27730 UMLS:C1333015" MONDO:0000449 MONDO:0021078 "UMLS:C0205650 NCIT:C6880" MONDO:0020708 "A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction." "NCIT:C133085" -MONDO:0005900 "Inflammation of the parotid glands." "SCTID:14756005 UMLS:C0030583 EFO:0007423 MESH:D010309 NCIT:C114281 DOID:10301 ICD10:K11.2" +MONDO:0005900 "Inflammation of the parotid glands." "SCTID:14756005 UMLS:C0030583 EFO:0007423 MESH:D010309 NCIT:C114281 DOID:10301" HP:0000405 "An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound." "SNOMEDCT_US:44057004 UMLS:C0018777 MSH:D006314" MONDO:0054791 "OMIM:617964 UMLS:CN244907" MONDO:0100101 "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene." "Orphanet:994 DOID:0111377 OMIM:208150" @@ -6209,18 +6202,18 @@ MONDO:0002256 "A non-neoplastic or neoplastic disorder that affects the cervix. http://identifiers.org/hgnc/11274 NCBITaxon:3744 "GC_ID:1" MONDO:0100308 "A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement." -MONDO:0011897 "Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described." "Orphanet:447896 OMIM:607694 Orphanet:447893 Orphanet:77295 ICD10:E75.2 Orphanet:137639 SCTID:721846006 DOID:0060794 Orphanet:88637 ICD10:G11.1" +MONDO:0011897 "Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described." "Orphanet:447896 OMIM:607694 Orphanet:447893 Orphanet:77295 Orphanet:137639 SCTID:721846006 DOID:0060794 ICD10CM:E75.2 Orphanet:88637" ECTO:4000036 "A exposure event involving the interaction of an exposure receptor to decreased amount of pressure of air." UBERON:0000415 MONDO:0020011 "OBSOLETE. Rare headache disorder." "Orphanet:98022" MONDO:0024461 "A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling." "MESH:D000798 SCTID:205562004 NCIT:C27503 UMLS:C0002992" -MONDO:0003582 "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer." "UMLS:C0677776 ICD10:C56 ICD10:C50 OMIMPS:604370 OMIM:604370 OMIM:612555 Orphanet:145 OMIM:613399 GARD:0012352 OMIM:614291 SCTID:718220008 MESH:D061325 GARD:0012351 DOID:5683 NCIT:C8493" +MONDO:0003582 "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer." "UMLS:C0677776 OMIMPS:604370 OMIM:604370 OMIM:612555 Orphanet:145 OMIM:613399 GARD:0012352 OMIM:614291 SCTID:718220008 MESH:D061325 GARD:0012351 DOID:5683 NCIT:C8493" UBERON:0001611 NCBITaxon:2732415 "GC_ID:1" MONDO:0006151 "A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion." "UMLS:C1302363 NCIT:C4847 SCTID:308870004 EFO:1000183" MONDO:0020714 "OMIM:251900" MONDO:0023214 "GARD:0006484 UMLS:C2930966 MESH:C535647" -MONDO:0011694 "Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment." "SCTID:716724006 Orphanet:98769 MESH:C564685 OMIM:606658 UMLS:C4274322 DOID:0050965 GARD:0010477 ICD10:G11.2 UMLS:C1847725" +MONDO:0011694 "Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment." "ICD10CM:G11.2 SCTID:716724006 Orphanet:98769 MESH:C564685 OMIM:606658 UMLS:C4274322 DOID:0050965 GARD:0010477 UMLS:C1847725" MONDO:0021918 "MESH:C537428 GARD:0009223 UMLS:C2931491" CHR:9606-chr16p11.2-p12.2 http://identifiers.org/hgnc/30343 @@ -6230,7 +6223,7 @@ MONDO:0021739 "A name applied to several itchy skin eruptions of unknown cause. http://identifiers.org/hgnc/11273 NCBITaxon:3745 "GC_ID:1" MONDO:0013129 "Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene." "NCIT:C164226 OMIM:613093 Orphanet:49382 Orphanet:1871" -MONDO:0008557 "Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." "Orphanet:851 ICD10:D69.4 UMLS:C1861178 GARD:0004224 OMIM:188025 UMLS:C1956093" +MONDO:0008557 "Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." "Orphanet:851 UMLS:C1861178 GARD:0004224 OMIM:188025 UMLS:C1956093 ICD10CM:D69.4" http://identifiers.org/hgnc/12472 GO:0051339 "Any process that modulates the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring." MONDO:0020715 "OMIM:146500" @@ -6238,7 +6231,7 @@ MONDO:0014820 "Any mitochondrial DNA depletion syndrome in which the cause of th UBERON:0001610 UBERON:0022248 MONDO:0001643 "SCTID:69763009 ICD9:376.22 DOID:13135 UMLS:C0152135" -MONDO:0011842 "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31." "ICD10:G31.0 OMIM:607485 UMLS:C0282513 Orphanet:282 Orphanet:100070 DOID:0060672" +MONDO:0011842 "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31." "OMIM:607485 Orphanet:282 UMLS:C0282513 Orphanet:100070 DOID:0060672" HP:0033107 "An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine." HP:0001392 "An abnormality of the liver." "MSH:D008107 UMLS:C4021780 SNOMEDCT_US:235856003 UMLS:C0023895" NCBITaxon:1538075 "GC_ID:1" @@ -6247,17 +6240,17 @@ MONDO:0000445 GO:0003940 "Catalysis of the hydrolysis of alpha-L-iduronosidic linkages in dermatan sulfate." http://identifiers.org/hgnc/11272 http://identifiers.org/hgnc/53 -MONDO:0016702 "A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" "EFO:0000630 NCIT:C4050 Orphanet:251656 GARD:0009769 ONCOTREE:OAST UMLS:C0280793 MedDRA:10027744 SCTID:716647001 ICD10:C71.9 MESH:D009837 DOID:7912" +MONDO:0016702 "A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" "EFO:0000630 ICD10CM:C71.9 NCIT:C4050 Orphanet:251656 GARD:0009769 ONCOTREE:OAST UMLS:C0280793 MedDRA:10027744 SCTID:716647001 MESH:D009837 DOID:7912" MONDO:0005904 "An inflammatory process affecting the pericardium." "SCTID:3238004 UMLS:C0031046 EFO:0007427 Orphanet:58208 MESH:D010493 HP:0001701 NCIT:C34915 DOID:1787" -MONDO:0015974 "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells." "DOID:627 ICD10:D81.9 ICD10:D81.3 MedDRA:10069566 MESH:D016511 UMLS:C0085110 ICD10:D81.2 GARD:0007628 NCIT:C3472 HP:0004430 SCTID:31323000 ICD10:D81.0 ICD10:D81.1 Orphanet:183660" +MONDO:0015974 "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells." "Orphanet:183660 ICD10CM:D81.3 ICD10CM:D81.9 ICD10CM:D81.2 GARD:0007628 MedDRA:10069566 UMLS:C0085110 MESH:D016511 ICD10CM:D81.1 NCIT:C3472 HP:0004430 DOID:627 ICD10CM:D81.0 SCTID:31323000" UBERON:0002812 -MONDO:0012103 "Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy." "UMLS:C1837518 OMIM:608703 DOID:0050974 ICD10:G11.8 Orphanet:101111 MESH:C537202 SCTID:718770005 GARD:0009996" +MONDO:0012103 "Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy." "UMLS:C1837518 OMIM:608703 DOID:0050974 ICD10CM:G11.8 Orphanet:101111 MESH:C537202 SCTID:718770005 GARD:0009996" MONDO:0020716 "OMIM:274400" GO:0042092 "An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects." -MONDO:0020366 "Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm." "ICD10:Q15.0 Orphanet:98976 GARD:0002485 OMIM:617272 OMIM:600975 OMIM:613085 OMIM:231300 SCTID:204113001 NCIT:C50648 OMIM:613086" +MONDO:0020366 "Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm." "Orphanet:98976 GARD:0002485 OMIM:617272 OMIM:600975 OMIM:613085 OMIM:231300 SCTID:204113001 NCIT:C50648 OMIM:613086" MONDO:0023212 "GARD:0002435 UMLS:C2930965 MESH:C535646" CHEBI:24995 "Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring." -MONDO:0019729 "ICD10:D89.8 UMLS:CN206636 Orphanet:93557" +MONDO:0019729 "ICD10CM:D89.8 UMLS:CN206636 Orphanet:93557" MONDO:0006010 "A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus)," "EFO:0007539 UMLS:C1135869 MESH:D031941" MONDO:0003462 "A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma." "NCIT:C8986 DOID:5479 UMLS:C1377850" UBERON:0001613 @@ -6267,7 +6260,7 @@ UBERON:0002810 UBERON:0000110 "Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system." MONDO:0003215 "A malignant neoplasm involving the apocrine sweat gland." "DOID:4934 NCIT:C6800 UMLS:C1334561" MONDO:0000444 -MONDO:0008903 "A malignant neoplasm involving the lung." "ICD10:C34.1 ICD10:C34.2 OMIM:211980 NCIT:C7377 ICD9:162.8 ICD9:162.9 UMLS:C0007131 OMIM:614210 OMIM:612593 ICD9:162.4 DOID:1324 UMLS:C0152013 ICD10:C34.3 SCTID:363358000 ICD9:162.5 OMIM:608935 ICD9:162.3 UMLS:C0684249 OMIM:612571" +MONDO:0008903 "A malignant neoplasm involving the lung." "OMIM:211980 NCIT:C7377 ICD9:162.8 ICD9:162.9 UMLS:C0007131 OMIM:614210 OMIM:612593 ICD9:162.4 DOID:1324 UMLS:C0152013 SCTID:363358000 ICD9:162.5 OMIM:608935 ICD9:162.3 UMLS:C0684249 OMIM:612571" MONDO:0018529 "Orphanet:424925" GO:0006355 "Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription." GO:0071482 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light." @@ -6281,13 +6274,13 @@ MONDO:0006708 "Infections with bacteria of the family Desulfovibrionaceae." "MES CL:0002620 "A fibroblast of skin." "CALOHA:TS-0935 BTO:0001255" GO:0035305 "Any process the stops, prevents, or reduces the frequency, rate or extent of removal of phosphate groups from a molecule." MONDO:0003761 "A melanoma that arises from leptomeningeal melanocytes." "UMLS:C1334386 DOID:6085 SCTID:277530005 NCIT:C5317" -MONDO:0010356 "Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." "SCTID:723440000 OMIM:300539 UMLS:C1845202 ICD10:E22.2 MESH:C564491 Orphanet:93606" +MONDO:0010356 "Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." "SCTID:723440000 OMIM:300539 UMLS:C1845202 ICD10CM:E22.2 MESH:C564491 Orphanet:93606" MONDO:0020717 "OMIM:194300 DOID:0111573" MONDO:0000393 "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure." "UMLS:C3661483 DOID:0050666" UBERON:0001612 NCBITaxon:2732416 "GC_ID:1" UBERON:0004374 -MONDO:0019728 "UMLS:C1333947 Orphanet:93556 ICD10:D89.8 NCIT:C7339 UMLS:CN206635" +MONDO:0019728 "UMLS:C1333947 Orphanet:93556 NCIT:C7339 ICD10CM:D89.8 UMLS:CN206635" CL:1000432 "An epithelial cell that is part of the conjunctiva." "FMA:70552" MONDO:0002436 "A disease involving the nose." "UMLS:C0028432 SCTID:89488007 MESH:D009668 ICD9:478.19 DOID:2825" MONDO:0013887 "Orphanet:450 OMIM:614779 UMLS:C3553676" @@ -6296,16 +6289,16 @@ GO:0007010 "A process that is carried out at the cellular level which results in GO:0042074 "The migration of individual cells within the blastocyst to help establish the multi-layered body plan of the organism (gastrulation). For example, the migration of cells from the surface to the interior of the embryo (ingression)." CHEBI:30985 "A bipyridine in which the two pyridine moieties are linked by a bond between positions C-4 and C-4'." UBERON:0000410 -MONDO:0014565 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene." "Orphanet:98991 UMLS:C4225389 Orphanet:91492 ICD10:Q12.0 OMIM:616279 DOID:0110259" +MONDO:0014565 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene." "Orphanet:98991 UMLS:C4225389 Orphanet:91492 OMIM:616279 DOID:0110259" GO:2000834 "Any process that modulates the frequency, rate or extent of androgen secretion." MONDO:0020569 "Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy." "Orphanet:99989 UMLS:CN207495" http://identifiers.org/hgnc/15807 MONDO:0007967 "Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma)." "Orphanet:252206 MESH:C536149 OMIM:155755 DOID:0111511 GARD:0008468 UMLS:C1835042 SCTID:717968005" MONDO:0012089 "Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy." "UMLS:C1504431 GARD:0009886 MESH:C536271 UMLS:C1837610 Orphanet:88621 SCTID:12381000132107 OMIM:608649 NCIT:C62590" http://identifiers.org/hgnc/6343 -MONDO:0017591 "Orphanet:300564 ICD10:J84.1 UMLS:CN203401" +MONDO:0017591 "ICD10CM:J84.1 Orphanet:300564 UMLS:CN203401" http://identifiers.org/hgnc/8740 -MONDO:0007744 "ICD10:E78.4 OMIM:614028 UMLS:C3875011 SCTID:15771000119109 OMIM:143470 UMLS:CN205999 Orphanet:79506 UMLS:C0342883 DOID:0111368" +MONDO:0007744 "OMIM:614028 UMLS:C3875011 SCTID:15771000119109 OMIM:143470 UMLS:CN205999 ICD10CM:E78.4 Orphanet:79506 UMLS:C0342883 DOID:0111368" PATO:0001393 "A ploidy quality inhering in a bearer by virtue of the bearer's containing an integral multiple of the monoploid number, possibly excluding the sex-determining chromosomes." UBERON:0000411 MONDO:0014000 "Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene." "OMIM:614980 UMLS:C3554279" @@ -6315,17 +6308,17 @@ NCBITaxon:6249 "GC_ID:1" MONDO:0025113 "Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild." "UMLS:C0032851 MESH:D011201" GO:0030278 "Any process that modulates the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance." UBERON:0001872 -MONDO:0009109 "Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." "GARD:0001853 GARD:0003335 NCIT:C121563 DOID:0060439 ICD10:E72.0 MedDRA:10058300 Orphanet:470 MESH:C562687 SCTID:303852004 ICD9:270.8 UMLS:C0268647 OMIM:222700" -MONDO:0010027 "Orphanet:309324 GARD:0000175 SCTID:34566007 OMIM:269920 ICD10:E77.8 Orphanet:834 MedDRA:10067532" +MONDO:0009109 "Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism." "GARD:0001853 GARD:0003335 ICD10CM:E72.0 NCIT:C121563 DOID:0060439 MedDRA:10058300 Orphanet:470 MESH:C562687 SCTID:303852004 ICD9:270.8 UMLS:C0268647 OMIM:222700" +MONDO:0010027 "Orphanet:309324 GARD:0000175 SCTID:34566007 OMIM:269920 Orphanet:834 ICD10CM:E77.8 MedDRA:10067532" MONDO:0004149 "DOID:7222" MONDO:0012424 "OMIM:610157" MONDO:0004053 "A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." "EFO:1000104 DOID:6961 NCIT:C40293 UMLS:C1511052" http://identifiers.org/hgnc/6342 GO:2000349 "Any process that stops, prevents or reduces the frequency, rate or extent of signaling via the CD40 signaling pathway." http://identifiers.org/hgnc/57 -MONDO:0014821 "OMIM:616897 ICD10:Q78.8 Orphanet:457378 UMLS:C4225162" -MONDO:0009283 "Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive." "MESH:C562818 SCTID:238070003 ICD10:E72.3 UMLS:C0342873 GARD:0012469 OMIM:231690 ICD9:270.2 Orphanet:35706" -MONDO:0013889 "ICD10:Q87.1 GARD:0010945 Orphanet:391677 OMIM:614800 UMLS:C3541319" +MONDO:0014821 "OMIM:616897 ICD10CM:Q78.8 Orphanet:457378 UMLS:C4225162" +MONDO:0009283 "Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive." "MESH:C562818 SCTID:238070003 ICD10CM:E72.3 UMLS:C0342873 GARD:0012469 OMIM:231690 ICD9:270.2 Orphanet:35706" +MONDO:0013889 "GARD:0010945 Orphanet:391677 ICD10CM:Q87.1 OMIM:614800 UMLS:C3541319" CL:1000123 NCBITaxon:715962 "GC_ID:1" NCBITaxon:33758 "GC_ID:1" @@ -6336,44 +6329,44 @@ GO:1902105 "Any process that modulates the frequency, rate or extent of leukocyt http://identifiers.org/hgnc/30348 http://identifiers.org/hgnc/18568 NCBITaxon:6247 "GC_ID:1" -MONDO:0010056 "Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "ICD9:335.19 GARD:0000564 OMIM:271150 Orphanet:70 Orphanet:83420 ICD10:G12.1 DOID:0050529 SCTID:85505000" +MONDO:0010056 "Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "ICD9:335.19 GARD:0000564 OMIM:271150 Orphanet:70 Orphanet:83420 DOID:0050529 SCTID:85505000 ICD10CM:G12.1" NCBITaxon:6248 "GC_ID:1" http://identifiers.org/hgnc/5144 MONDO:0003204 "An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma." "UMLS:C0334306 DOID:4917 NCIT:C4142 ICDO:8262/3" MONDO:0008033 "OBSOLETE. Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death." -MONDO:0016566 "Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis." "SCTID:44250009 GARD:0003283 UMLS:C0023968 DOID:13523 ICD10:B74.3 NCIT:C34784 EFO:1000729 MESH:D008118 ICD9:125.2 MedDRA:10024797 Orphanet:2404" +MONDO:0016566 "Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis." "SCTID:44250009 GARD:0003283 ICD10CM:B74.3 DOID:13523 UMLS:C0023968 NCIT:C34784 EFO:1000729 MESH:D008118 ICD9:125.2 MedDRA:10024797 Orphanet:2404" GO:2001169 "Any process that modulates the frequency, rate or extent of ATP biosynthetic process." MONDO:0000715 "A adenoid cystic carcinoma that involves the lymph node." "DOID:0060219" MONDO:0012425 "OMIM:610158 Orphanet:98974 UMLS:C1857800" -MONDO:0005297 "Inflammation of the urethra." "ICD9:597.80 NCIT:C26904 DOID:1343 MESH:D014526 ICD9:099.40 EFO:0003878 HP:0500006 SCTID:84619001 ICD10:N34.2" +MONDO:0005297 "Inflammation of the urethra." "ICD9:597.80 NCIT:C26904 DOID:1343 MESH:D014526 ICD9:099.40 EFO:0003878 HP:0500006 SCTID:84619001" MONDO:0020712 "DOID:0111778 OMIM:400044" http://identifiers.org/hgnc/17104 GO:0060048 "Muscle contraction of cardiac muscle tissue." -MONDO:0015192 "ICD10:K59.8 Orphanet:104078 UMLS:CN197532" +MONDO:0015192 "ICD10CM:K59.8 Orphanet:104078 UMLS:CN197532" MONDO:0035370 "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene." "Orphanet:597887" MONDO:0016958 "Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "UMLS:C0795821 MESH:C537821 GARD:0005357 Orphanet:262887" GO:0030656 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body." http://identifiers.org/hgnc/6341 -MONDO:0007683 "Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986." "GARD:0002559 SCTID:723827003 OMIM:138930 UMLS:C1841835 Orphanet:2097 MESH:C537293 ICD10:Q87.5" -MONDO:0006537 "Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron." "DOID:12304 UMLS:C0155163 ICD9:372.55 ICD10:H11.13 EFO:1000682 SCTID:66081003" -MONDO:0009669 "A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "SCTID:54280009 SCTID:128212001 UMLS:C0152109 Orphanet:83330 UMLS:C0700595 DOID:13137 ICD9:335.11 NCIT:C98670 ICD10:G12.0 SCTID:64383006 GARD:0007883 OMIM:253300 ICD9:335.0 NCIT:C118847 Orphanet:70 DOID:0060160" +MONDO:0007683 "Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986." "GARD:0002559 SCTID:723827003 OMIM:138930 UMLS:C1841835 Orphanet:2097 MESH:C537293 ICD10CM:Q87.5" +MONDO:0006537 "Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron." "DOID:12304 UMLS:C0155163 ICD9:372.55 EFO:1000682 SCTID:66081003" +MONDO:0009669 "A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "SCTID:54280009 SCTID:128212001 UMLS:C0152109 Orphanet:83330 UMLS:C0700595 DOID:13137 ICD9:335.11 NCIT:C98670 SCTID:64383006 GARD:0007883 OMIM:253300 ICD9:335.0 NCIT:C118847 Orphanet:70 DOID:0060160" MONDO:0007746 "MESH:C564174 UMLS:C1840438 OMIM:143850" GO:0010629 "Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form." -MONDO:0011227 "OMIM:602471 MESH:C566544 SCTID:417081007 Orphanet:397623 ICD10:Q87.1 UMLS:C1865361" +MONDO:0011227 "OMIM:602471 MESH:C566544 SCTID:417081007 Orphanet:397623 UMLS:C1865361 ICD10CM:Q87.1" GO:0016491 "Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced." NCBITaxon:11080 "GC_ID:1" NCBITaxon:6246 "GC_ID:1" http://identifiers.org/hgnc/777 -MONDO:0006868 "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." "MESH:D055496 SCTID:425671009 ICD10:K59.2 ICD9:564.81 EFO:1001061 MedDRA:10048657 DOID:13419 UMLS:C0695242" +MONDO:0006868 "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." "MESH:D055496 SCTID:425671009 ICD9:564.81 EFO:1001061 MedDRA:10048657 DOID:13419 UMLS:C0695242" http://identifiers.org/hgnc/15808 MONDO:0013734 "Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene." "UMLS:C3553077 OMIM:614402" -MONDO:0007275 "Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement." "OMIM:115430 UMLS:C0007286 SCTID:57406009 ICD9:354.0 NCIT:C34450 ICD10:G56.00 EFO:0004143 Orphanet:50838 DOID:12169 ICD10:G56.0 MESH:D002349 OMIM:613353 OMIMPS:115430" +MONDO:0007275 "Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement." "OMIM:115430 UMLS:C0007286 SCTID:57406009 ICD9:354.0 NCIT:C34450 EFO:0004143 Orphanet:50838 DOID:12169 MESH:D002349 ICD10CM:G56.0 OMIM:613353 OMIMPS:115430" UBERON:0010260 ENVO:01001673 "A surface layer which is composed primarily of some liquid or gas."@en UBERON:0004370 GO:0030312 "A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space." MONDO:0020713 "OMIM:265450" -MONDO:0015191 "Orphanet:104077 ICD10:K59.8" +MONDO:0015191 "Orphanet:104077 ICD10CM:K59.8" MFOMD:0000107 "\nThe need to perform acts or to dwell on thoughts to reduce anxiety.\n\n\"Understanding abnormal behavior\". David Sue, Derald Wing Sue, Stanley Sue.\n" GO:0071953 "An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain." NCBITaxon:11083 "GC_ID:1" @@ -6381,14 +6374,14 @@ http://identifiers.org/hgnc/59 HP:0001482 "Slightly elevated lesions on or in the skin with a diameter of over 5 mm." "SNOMEDCT_US:95325000 UMLS:C0151811 UMLS:C0746926" MONDO:0012428 "OMIM:610170 UMLS:C1857795 MESH:C565711" NCBITaxon:2038102 "GC_ID:1" -MONDO:0019542 "Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections." "Orphanet:90062 ICD10:K72.0 MESH:D017114 UMLS:C0162557 NCIT:C84396 SCTID:197270009 MedDRA:10000804" +MONDO:0019542 "Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections." "Orphanet:90062 ICD10CM:K72.0 MESH:D017114 UMLS:C0162557 NCIT:C84396 SCTID:197270009 MedDRA:10000804" MONDO:0005366 "Chronic form of hepatitis B infection." "UMLS:C0524909 EFO:0004239 MESH:D019694" -MONDO:0016097 "Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation." "SCTID:765197008 Orphanet:206546 ICD10:G71.0 UMLS:CN200864" -MONDO:0017069 "A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface." "ICD10:Q05.9 ICD10:Q05.4 ICD10:Q05.0 ICD10:Q05.7 ICD10:Q05.2 NCIT:C101201 Orphanet:268744 ICD10:Q05.5 ICD10:Q05.1 ICD10:Q05.6 ICD10:Q05.3 ICD10:Q05.8 MESH:D016137 MedDRA:10071011" -MONDO:0005201 "A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." "OMIM:115210 SCTID:415295002 UMLS:C0007196 Orphanet:75249 NCIT:C62798 MedDRA:10038748 DOID:397 EFO:0002630 MESH:D002313 Orphanet:217632 OMIM:612422 ICD9:425.4 ICD10:I42.5 OMIM:615248 OMIM:609578" +MONDO:0016097 "Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation." "SCTID:765197008 Orphanet:206546 ICD10CM:G71.0 UMLS:CN200864" +MONDO:0017069 "A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface." "ICD10CM:Q05.9 NCIT:C101201 ICD10CM:Q05.0 ICD10CM:Q05.7 MESH:D016137 ICD10CM:Q05.1 ICD10CM:Q05.2 ICD10CM:Q05.4 MedDRA:10071011 Orphanet:268744 ICD10CM:Q05.8 ICD10CM:Q05.3 ICD10CM:Q05.5 ICD10CM:Q05.6" +MONDO:0005201 "A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium." "OMIM:115210 SCTID:415295002 UMLS:C0007196 Orphanet:75249 NCIT:C62798 MedDRA:10038748 DOID:397 EFO:0002630 MESH:D002313 Orphanet:217632 OMIM:612422 ICD9:425.4 OMIM:615248 OMIM:609578" MONDO:0014754 "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene." "OMIM:616733 DOID:0070245 UMLS:C4225226" MONDO:0023472 "GARD:0001299" -MONDO:0018964 "Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1)." "OMIM:250940 UMLS:C4303479 Orphanet:622 OMIM:277410 ICD10:E72.1 SCTID:721225009 OMIM:236270" +MONDO:0018964 "Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1)." "OMIM:250940 UMLS:C4303479 Orphanet:622 OMIM:277410 SCTID:721225009 ICD10CM:E72.1 OMIM:236270" MONDO:0045042 NCBITaxon:9845 "GC_ID:1" NCBITaxon:11082 "GC_ID:1" @@ -6398,7 +6391,7 @@ MONDO:0014824 "OMIM:616901 UMLS:C4310801 Orphanet:459061" MONDO:0024313 "An infection caused by Staphylococcus." "MESH:D013203 SCTID:56038003 NCIT:C35038" MONDO:0015190 UBERON:0035431 -MONDO:0013328 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene." "ICD10:H35.5 DOID:0110362 UMLS:C3150879 OMIM:613617" +MONDO:0013328 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene." "DOID:0110362 UMLS:C3150879 OMIM:613617" http://identifiers.org/hgnc/18305 GO:0051270 "Any process that modulates the frequency, rate or extent of the movement of a cellular component." MONDO:0006673 "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes." "UMLS:C0001431 ICDO:8300/0 EFO:1000834 DOID:4542 NCIT:C2856 MESH:D000237" @@ -6407,26 +6400,26 @@ CHEBI:33767 MONDO:0014667 "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene." "OMIM:616500 DOID:0080359 Orphanet:1561 UMLS:C4225154" NCBITaxon:356 "PMID:1854635 GC_ID:11" MONDO:0020587 "A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood." "SCTID:767713001 NCIT:C131739" -MONDO:0008740 "Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis." "SCTID:48180002 NCIT:C124568 ICD9:759.89 Orphanet:990 ICD10:Q87.8 ICD10:Q18.2 DOID:0060341 OMIM:202650 GARD:0009126 UMLS:CN207252" +MONDO:0008740 "Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis." "SCTID:48180002 NCIT:C124568 ICD9:759.89 Orphanet:990 ICD10CM:Q87.8 DOID:0060341 OMIM:202650 GARD:0009126 UMLS:CN207252" http://identifiers.org/hgnc/775 GO:0001809 "Any process that activates or increases the frequency, rate or extent of type IV hypersensitivity, a type of inflammatory response." http://identifiers.org/hgnc/5141 HP:0002917 "An abnormally decreased magnesium concentration in the blood." "UMLS:C0151723 SNOMEDCT_US:190855004" -MONDO:0012417 "A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." "UMLS:C1857829 ICD10:Q87.2 Orphanet:168796 MESH:C535852 GARD:0009846 SCTID:721014007 OMIM:610140" +MONDO:0012417 "A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." "UMLS:C1857829 Orphanet:168796 ICD10CM:Q87.2 MESH:C535852 GARD:0009846 SCTID:721014007 OMIM:610140" ENVO:01001089 "An aerosol which has non-gaseous parts that are primarily composed of solid particles." GO:0045907 "Any process that activates or increases the frequency, rate or extent of vasoconstriction." CL:1001320 "KUPO:0001123" -MONDO:0001286 "A form of strabismus in which the eyes are deviated laterally." "UMLS:C0015310 NCIT:C34601 SCTID:399252000 ICD9:378.1 ICD10:H50.10 MESH:D005099 DOID:1143 ICD10:H50.1 ICD9:378.10" -MONDO:0008404 "Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant." "SCTID:721888002 DOID:0111550 OMIM:181270 MESH:C536623 ICD10:Q87.8 Orphanet:2036 GARD:0000159" +MONDO:0001286 "A form of strabismus in which the eyes are deviated laterally." "UMLS:C0015310 NCIT:C34601 SCTID:399252000 ICD9:378.1 MESH:D005099 DOID:1143 ICD10CM:H50.1 ICD9:378.10" +MONDO:0008404 "Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant." "ICD10CM:Q87.8 SCTID:721888002 DOID:0111550 OMIM:181270 MESH:C536623 Orphanet:2036 GARD:0000159" GO:2000857 "Any process that activates or increases the frequency, rate or extent of mineralocorticoid secretion." MONDO:0014825 "OMIM:616902 UMLS:C4311047" -MONDO:0000337 "An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk." "UMLS:C0595993 ICD10:B08.20 DOID:0050495 SCTID:54385001 NCIT:C128420 ICD9:058.10 ICD10:B08.2 ICD9:058.1 UMLS:C0015231 ICD9:057.8 EFO:1001320 MESH:D005077" +MONDO:0000337 "An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk." "UMLS:C0595993 DOID:0050495 SCTID:54385001 NCIT:C128420 ICD9:058.10 ICD9:058.1 UMLS:C0015231 ICD9:057.8 EFO:1001320 MESH:D005077" NCBITaxon:1897064 "GC_ID:1" MONDO:0008942 "MESH:C565866 UMLS:C1859299 OMIM:213100" -MONDO:0013123 "Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene." "MESH:C567764 DOID:0110111 Orphanet:1478 ICD10:Q21.1 OMIM:613087 UMLS:C2751315" +MONDO:0013123 "Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene." "MESH:C567764 DOID:0110111 Orphanet:1478 OMIM:613087 UMLS:C2751315" CHEBI:33504 MONDO:0004797 "A mononeuritis simplex that involves the hindlimb." "DOID:9473 ICD9:355.8 ICD9:355" -MONDO:0013181 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene." "MESH:C567706 Orphanet:100033 DOID:0110061 ICD10:K00.5 OMIM:613211 UMLS:C2750771" +MONDO:0013181 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene." "MESH:C567706 Orphanet:100033 DOID:0110061 OMIM:613211 UMLS:C2750771" MONDO:0003736 "An overwhelming, irrational, and persistent fear of being diagnosed with cancer." "NCIT:C35492 DOID:602 EFO:1001879" MONDO:0021075 "UMLS:C1334941 NCIT:C7068" MONDO:0014826 "OMIM:616903 UMLS:C4225160" @@ -6438,20 +6431,20 @@ HP:0002150 "SNOMEDCT_US:71938000 MSH:D053565 UMLS:C0020438" CHR:9606-chrM MONDO:0100372 "Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport." ENVO:01001040 "An environment which is determined by materials which bear significant concentrations of salts." -MONDO:0017991 "Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm." "MESH:D013625 OMIM:207600 DOID:2508 ICD10:M31.4 NCIT:C35062 EFO:1001857 GARD:0007730 ICD9:446.7 MedDRA:10043097 UMLS:C0039263 NCIT:C34391 Orphanet:3287 SCTID:239937004" +MONDO:0017991 "Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm." "MESH:D013625 OMIM:207600 DOID:2508 NCIT:C35062 EFO:1001857 GARD:0007730 ICD9:446.7 MedDRA:10043097 UMLS:C0039263 NCIT:C34391 Orphanet:3287 SCTID:239937004" MONDO:0009040 "GARD:0010282 MESH:C565664 OMIM:218649 UMLS:C1857473" MONDO:0100266 "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene." NCBITaxon:11084 "GC_ID:1" MONDO:0000653 "A malignant neoplasm involving the integumental system" "DOID:0060122" -MONDO:0010621 "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." "ICD10:Q87.8 GARD:0006039 SCTID:17608003 MESH:C562515 UMLS:C0265267 Orphanet:139 ICD9:759.89 OMIM:308050" +MONDO:0010621 "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." "UMLS:C0265267 MESH:C562515 ICD9:759.89 ICD10CM:Q87.8 GARD:0006039 SCTID:17608003 Orphanet:139 OMIM:308050" GO:0045859 "Any process that modulates the frequency, rate or extent of protein kinase activity." -MONDO:0009975 "An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes." "DOID:8538 OMIM:267730 ICD10:C96.4 ICD9:200.7 MedDRA:10038804 NCIT:C27824 ICD9:200.0 Orphanet:86900 EFO:0005287 ICD9:200.00 SCTID:373168002" +MONDO:0009975 "An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes." "DOID:8538 OMIM:267730 ICD9:200.7 MedDRA:10038804 NCIT:C27824 ICD9:200.0 Orphanet:86900 EFO:0005287 ICD9:200.00 ICD10CM:C96.4 SCTID:373168002" MONDO:0700066 "Any myopathy in which the cause of the disease is a variation in the FKRP gene." MONDO:0010238 "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene." "OMIM:300066 MESH:C564723 UMLS:C1848204 Orphanet:90625 DOID:0111735" MONDO:0007742 "OMIM:143460" -MONDO:0015247 "Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders." "GARD:0010009 Orphanet:1183 MedDRA:10053854 ICD10:G25.3 NCIT:C4686 EFO:1001383 UMLS:C0393626 ICD9:379.59 MESH:D053578 SCTID:230350000" +MONDO:0015247 "Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders." "GARD:0010009 Orphanet:1183 MedDRA:10053854 NCIT:C4686 EFO:1001383 ICD10CM:G25.3 UMLS:C0393626 ICD9:379.59 MESH:D053578 SCTID:230350000" HP:0001626 "Any abnormality of the cardiovascular system." "SNOMEDCT_US:49601007 UMLS:C0007222 MSH:D002318 MSH:D018376 UMLS:C0243050" -MONDO:0015552 "Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet." "UMLS:C4518087 SCTID:733638006 ICD10:Q81.2 UMLS:CN199731 Orphanet:158673" +MONDO:0015552 "Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet." "UMLS:C4518087 SCTID:733638006 ICD10CM:Q81.2 UMLS:CN199731 Orphanet:158673" GO:0019217 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving fatty acids." GO:2000736 "Any process that modulates the frequency, rate or extent of stem cell differentiation." MONDO:0005156 "Inflammation of the brain and the spinal cord." "ICD9:323.9 NCIT:C34580 MESH:D004679 EFO:0001423 DOID:640 UMLS:C0014070 SCTID:62950007" @@ -6463,7 +6456,7 @@ MONDO:0016229 "An instance of vascular anomaly that is caused by a modification UBERON:0001870 NCIT:C36745 GO:0002082 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis." -MONDO:0007269 "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." "DOID:0110425 UMLS:C1449563 Orphanet:300751 SCTID:766883006 OMIM:115200 GARD:0001104 ICD10:I42.0" +MONDO:0007269 "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." "DOID:0110425 UMLS:C1449563 Orphanet:300751 ICD10CM:I42.0 SCTID:766883006 OMIM:115200 GARD:0001104" NCBITaxon:29169 "GC_ID:1" GO:0000977 "Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II." MONDO:0006246 "A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." "EFO:1000296 NCIT:C53958 UMLS:C1266165 ICDO:9194/3 ONCOTREE:HGSOS" @@ -6472,11 +6465,11 @@ MONDO:0018530 "Orphanet:424933 UMLS:CN237535" MONDO:0018796 "Orphanet:477797" MONDO:0001725 "A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis." "DOID:13477 ICD9:607.81 SCTID:198033005 NCIT:C3523 UMLS:C0152460" MONDO:0002309 "Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva." "NCIT:C35616 DOID:2458 ICD9:372.39 SCTID:416878008 UMLS:C0854165" -MONDO:0019131 "Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification." "Orphanet:73230 ICD10:Q79.8 UMLS:CN227577" +MONDO:0019131 "Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification." "Orphanet:73230 UMLS:CN227577 ICD10CM:Q79.8" MONDO:0000801 "OBSOLETE. A allergic disease involving a green mud crab." "DOID:0060526" MONDO:0002747 "A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." "DOID:3707 NCIT:C40144 UMLS:C1519859 ONCOTREE:UMC EFO:1000236" MONDO:0016135 "Orphanet:207025 UMLS:CN200899" -MONDO:0006618 "This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful." "UMLS:C0157743 GARD:0009806 DOID:1554 ICD10:L50.4 SCTID:51247001 EFO:1000775 Wikipedia:Urticaria#Vibratory_angioedema ICD9:708.4" +MONDO:0006618 "This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful." "ICD10CM:L50.4 UMLS:C0157743 GARD:0009806 DOID:1554 SCTID:51247001 EFO:1000775 Wikipedia:Urticaria#Vibratory_angioedema ICD9:708.4" MONDO:0012681 "DOID:0111311 UMLS:C1969087 MESH:C566929 OMIM:611515" GO:0006778 "The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group." MONDO:0017332 "UMLS:CN202977 Orphanet:289478 EFO:0009009" @@ -6484,15 +6477,15 @@ CHR:9606-chr2 MONDO:0009990 "Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." "OMIM:268130 MESH:C538371 GARD:0004695 SCTID:723512008 Orphanet:3088 DOID:0070026 NCIT:C152064 UMLS:C1327916" http://identifiers.org/hgnc/20502 GO:0000041 "The directed movement of transition metal ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver." -MONDO:0010286 "UMLS:C1846055 ICD10:Q87.8 OMIM:300263 GARD:0009704 MESH:C537333 Orphanet:85287 DOID:0060812" +MONDO:0010286 "GARD:0009704 Orphanet:85287 MESH:C537333 UMLS:C1846055 ICD10CM:Q87.8 OMIM:300263 DOID:0060812" MONDO:0008936 "OMIM:212850 UMLS:C1859304 MESH:C565869" -MONDO:0005518 "A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex." "NCIT:C124575 SCTID:75164001 EFO:0005579 DOID:3765 ICD10:Q56 Wikipedia:Pseudohermaphroditism MESH:D012734 SCTID:268229003 ICD10:Q56.3 ICD9:752.7" -MONDO:0019667 "Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest." "ICD9:756.9 ICD10:Q77.7 SCTID:51952004 DOID:0080362 OMIM:313400 OMIM:184100 OMIM:271600 Orphanet:93284" +MONDO:0005518 "A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex." "NCIT:C124575 ICD10CM:Q56 ICD10CM:Q56.3 SCTID:75164001 EFO:0005579 DOID:3765 Wikipedia:Pseudohermaphroditism MESH:D012734 SCTID:268229003 ICD9:752.7" +MONDO:0019667 "Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest." "ICD9:756.9 SCTID:51952004 DOID:0080362 ICD10CM:Q77.7 OMIM:313400 OMIM:184100 OMIM:271600 Orphanet:93284" http://identifiers.org/hgnc/10909 MONDO:0011483 "GARD:0008571 UMLS:C1858143 OMIM:604771 MESH:C536324" UBERON:0035435 MONDO:0018797 "Orphanet:477805" -MONDO:0017221 "The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD." "Orphanet:280210 UMLS:CN202703 ICD10:E75.2" +MONDO:0017221 "The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD." "Orphanet:280210 ICD10CM:E75.2 UMLS:CN202703" MONDO:0016134 "Orphanet:207021 UMLS:CN200898" NCBITaxon:32561 "GC_ID:1" MONDO:0014384 "Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene." "OMIM:615885 UMLS:C4014563 Orphanet:55654 DOID:0110709" @@ -6500,11 +6493,11 @@ MONDO:0020216 "A hereditary disease that is associated with congenital ocular an CHR:9606-chr1 CL:2000080 "Any mesenchymal stem cell of adipose that is part of a abdomen." MONDO:0017333 "Orphanet:289494 UMLS:CN168056" -MONDO:0000456 "Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency." "OMIMPS:300352 UMLS:CN227588 DOID:0050798 ICD10:E72.8 Orphanet:79172" +MONDO:0000456 "Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency." "OMIMPS:300352 UMLS:CN227588 ICD10CM:E72.8 DOID:0050798 Orphanet:79172" MONDO:0013690 "Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene." "UMLS:C3280479 DOID:0111332 OMIM:614325 Orphanet:221150" -MONDO:0016994 "Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome." "ICD10:Q87.1 GARD:0005120 OMIM:210730 UMLS:CN202308 Orphanet:2636 SCTID:725461009 OMIM:210710" +MONDO:0016994 "Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome." "GARD:0005120 OMIM:210730 UMLS:CN202308 Orphanet:2636 SCTID:725461009 OMIM:210710 ICD10CM:Q87.1" ECTO:0500000 "A exposure event involving the interaction of an exposure receptor to environmental disposition." -MONDO:0006610 "The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging." "UMLS:C0151514 ICD10:L90.9 DOID:2733 ICD10:L90 ICD9:701.8 EFO:1000766 SCTID:400190005 Wikipedia:Steroid_atrophy NCIT:C35163" +MONDO:0006610 "The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging." "UMLS:C0151514 DOID:2733 ICD9:701.8 EFO:1000766 SCTID:400190005 Wikipedia:Steroid_atrophy NCIT:C35163" HsapDv:0000097 "Child stage that refers to a child who is over 3 and under 4 years old." NCBITaxon:348386 "GC_ID:1" GO:1904315 "Any transmitter-gated ion channel activity that is involved in regulation of postsynaptic membrane potential." @@ -6516,7 +6509,7 @@ CL:0000037 "A stem cell from which all cells of the lymphoid and myeloid lineage MONDO:0021291 "A in situ carcinoma that involves the fundus of stomach." "UMLS:C0345800 NCIT:C4429 SCTID:92598002" MONDO:0020695 "A type of cerebral palsy characterized by decreased muscle tone." "NCIT:C116906 SCTID:192958009" GO:1903650 "Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic transport." -MONDO:0015715 "Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "ICD10:D67 Orphanet:169793 UMLS:CN200227" +MONDO:0015715 "Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "ICD10CM:D67 Orphanet:169793 UMLS:CN200227" MONDO:0021440 "A benign neoplasm that involves the zone of skin." "ICD9:216.9 UMLS:C0004998 SCTID:92384009 ICD9:216.8 NCIT:C2896" MONDO:0016399 "Orphanet:225689 UMLS:CN201330" http://identifiers.org/hgnc/11006 @@ -6531,14 +6524,14 @@ NCBITaxon:76803 "GC_ID:1" MONDO:0017330 "Orphanet:289385 UMLS:CN227116" GO:0046486 "The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis." MONDO:0006698 "Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity." "DOID:11151 NCIT:C34443 MedDRA:10049890 UMLS:C0947622 MESH:D041761 SCTID:235919008 EFO:1000864" -MONDO:0020065 "A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism)." "UMLS:CN206969 Orphanet:98203 ICD10:G24.1" +MONDO:0020065 "A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism)." "UMLS:CN206969 Orphanet:98203 ICD10CM:G24.1" MONDO:0000962 "A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity." "NCIT:C4254 ICDO:8857/0 SCTID:404058008 DOID:10184 UMLS:C0334474" http://identifiers.org/hgnc/12469 UBERON:0010001 HP:0005339 "An abnormality of the complement system." "UMLS:C4025213" MONDO:0010022 "OMIM:269800" -MONDO:0016259 "An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component." "ICD10:C54.9 NCIT:C9180 GARD:0012335 Orphanet:213610" -MONDO:0002387 "A malignant vascular neoplasm arising from the liver." "DOID:268 GARD:0005813 UMLS:C0345907 SCTID:109844006 ICDO:9124/3 ONCOTREE:LIAS ICD10:C22.3 NCIT:C4438" +MONDO:0016259 "An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component." "NCIT:C9180 ICD10CM:C54.9 GARD:0012335 Orphanet:213610" +MONDO:0002387 "A malignant vascular neoplasm arising from the liver." "DOID:268 ICD10CM:C22.3 GARD:0005813 UMLS:C0345907 SCTID:109844006 ICDO:9124/3 ONCOTREE:LIAS NCIT:C4438" HP:0002493 "A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs." "UMLS:C1504405 UMLS:C1839042" MONDO:0018795 "Orphanet:477794 UMLS:CN776900" MONDO:0019777 "Carpenter-Waziri syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "UMLS:CN206718 Orphanet:93973 OMIM:309580" @@ -6547,9 +6540,9 @@ CL:1001318 "KUPO:0001104" UBERON:0011200 MONDO:0016398 "Orphanet:225686 UMLS:CN201329" http://identifiers.org/hgnc/11005 -MONDO:0009085 "Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia." "Orphanet:3239 UMLS:C1857339 GARD:0001705 OMIM:221350 MESH:C565642 ICD10:Q87.8" +MONDO:0009085 "Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia." "Orphanet:3239 UMLS:C1857339 GARD:0001705 OMIM:221350 MESH:C565642 ICD10CM:Q87.8" GO:0009896 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances." -MONDO:0013854 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene." "OMIM:614679 UMLS:C3542550 ICD10:Q34.8 DOID:0110621" +MONDO:0013854 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene." "OMIM:614679 UMLS:C3542550 DOID:0110621" http://identifiers.org/hgnc/10907 MONDO:0016132 "Orphanet:207015" HP:0100774 "Excessive growth or abnormal thickening of bone tissue." "SNOMEDCT_US:203514008 SNOMEDCT_US:13814009 MSH:D015576 UMLS:C0020492" @@ -6559,15 +6552,15 @@ MONDO:0005140 "A malignant neoplasm originating from the surface ovarian epithel http://identifiers.org/hgnc/21701 http://identifiers.org/hgnc/14867 MONDO:0010912 "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene." "Orphanet:45358 UMLS:C2748801 OMIM:600638 MESH:C567572" -MONDO:0009082 "High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations." "OMIM:221200 DOID:0111628 GARD:0012844 SCTID:720506002 UMLS:CN204687 ICD10:H90.5 Orphanet:363396" -MONDO:0019735 "A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression." "UMLS:C0032533 ICD9:725 UMLS:C1527406 ICD10:M35.3 DOID:853 MedDRA:10068240 NCIT:C85018 Orphanet:93569 MESH:D011111 GARD:0004704 SCTID:65323003" +MONDO:0009082 "High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations." "ICD10CM:H90.5 OMIM:221200 DOID:0111628 GARD:0012844 SCTID:720506002 UMLS:CN204687 Orphanet:363396" +MONDO:0019735 "A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression." "UMLS:C0032533 ICD9:725 UMLS:C1527406 DOID:853 MedDRA:10068240 NCIT:C85018 Orphanet:93569 MESH:D011111 GARD:0004704 SCTID:65323003" MONDO:0008933 "MESH:C565872 OMIM:212800 UMLS:C1859307" -MONDO:0018540 "An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." "Orphanet:42642 NCIT:C116917 GARD:0005657 SCTID:717231003 UMLS:CN205072 UMLS:C4082167 ICD10:E85.0" +MONDO:0018540 "An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." "Orphanet:42642 NCIT:C116917 GARD:0005657 SCTID:717231003 UMLS:CN205072 ICD10CM:E85.0 UMLS:C4082167" MONDO:0018792 "UMLS:CN776904 Orphanet:477771" ECTO:9001334 "An exposure to primary alcohol." MONDO:0020709 "An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities." -MONDO:0100096 "A disease caused by infection with severe acute respiratory syndrome coronavirus 2." "MESH:C000657245 ICD10:U07.1 ICD11:RA01.0 ICD11:RA01.2 SCTID:840539006 MESH:D000086382 DOID:0080600 ICD10:U07.2" -MONDO:0011785 "Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy." "OMIM:607152 DOID:0110772 ICD10:G11.4 GARD:0009588 MESH:C536856 SCTID:763375003 Orphanet:100999 UMLS:C1846685" +MONDO:0100096 "A disease caused by infection with severe acute respiratory syndrome coronavirus 2." "MESH:C000657245 ICD11:RA01.0 ICD11:RA01.2 SCTID:840539006 MESH:D000086382 ICD10CM:U07.1 DOID:0080600" +MONDO:0011785 "Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy." "OMIM:607152 DOID:0110772 GARD:0009588 MESH:C536856 ICD10CM:G11.4 SCTID:763375003 Orphanet:100999 UMLS:C1846685" MONDO:0000791 "OBSOLETE. A allergy involving a Cyprinus carpio." "DOID:0060516" CHR:9606-chr6 GO:0043558 "Any process that modulates the frequency, rate or extent of translation initiation, as a result of a stimulus indicating the organism is under stress." @@ -6579,8 +6572,8 @@ MONDO:0016397 "UMLS:CN201328 Orphanet:225681" MONDO:0016131 "Orphanet:207012" GO:0007423 "The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure." MONDO:0100357 "A mild or intermediate form of a genetic disease." -MONDO:0021520 "A benign neoplasm that involves the mouth floor." "UMLS:C0153934 ICD9:210.3 ICD10:D10.2 NCIT:C3593 SCTID:92109005" -MONDO:0007296 "Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties." "DOID:0050980 MESH:C566146 GARD:0009975 UMLS:C4274986 Orphanet:217012 UMLS:C1861736 ICD10:G11.8 OMIM:117210 SCTID:715826005" +MONDO:0021520 "A benign neoplasm that involves the mouth floor." "UMLS:C0153934 ICD9:210.3 NCIT:C3593 ICD10CM:D10.2 SCTID:92109005" +MONDO:0007296 "Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties." "DOID:0050980 MESH:C566146 GARD:0009975 UMLS:C4274986 Orphanet:217012 UMLS:C1861736 OMIM:117210 ICD10CM:G11.8 SCTID:715826005" MONDO:0003681 "A chondrosarcoma characterized by the presence of myxoid changes." "DOID:5861 UMLS:C0334551 ICDO:9231/3 NCIT:C4303 ONCOTREE:MYCHS" GO:0033238 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform amines." HP:0001952 "Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM)." "UMLS:C0235401" @@ -6590,11 +6583,11 @@ CL:0000936 "A lymphoid progenitor cell that is found in bone marrow, gives rise MONDO:0017594 "Orphanet:300842 NCIT:C171299 GARD:0010482" http://identifiers.org/hgnc/14604 MONDO:0018793 "Orphanet:477781" -MONDO:0003240 "A disease involving the thyroid gland." "DOID:50 ICD10:E00-E07 ICD9:246.8 ICD10:E00.E07 UMLS:C0040128 ICD9:240-246.99 EFO:1000627 Wikipedia:Thyroid_disease ICD10:E07.9 ICD9:246.9 MESH:D013959 SCTID:14304000 NCIT:C26893" -MONDO:0000995 "A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally." "SCTID:267607008 DOID:1029 ICD10:G72.3 NCIT:C84709 MESH:D010245 GARD:0006422 Orphanet:371433" +MONDO:0003240 "A disease involving the thyroid gland." "DOID:50 ICD9:246.8 ICD10CM:E00-E07 UMLS:C0040128 ICD9:240-246.99 EFO:1000627 Wikipedia:Thyroid_disease ICD9:246.9 MESH:D013959 SCTID:14304000 NCIT:C26893" +MONDO:0000995 "A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally." "SCTID:267607008 DOID:1029 NCIT:C84709 MESH:D010245 GARD:0006422 Orphanet:371433" UBERON:0008909 GO:0002713 "Any process that stops, prevents, or reduces the frequency, rate, or extent of B cell mediated immunity." -MONDO:0020336 "Autosomal dominant form of Emery-Dreifuss muscular dystrophy." "OMIM:614302 OMIM:612998 OMIM:612999 UMLS:C0410190 Orphanet:98853 OMIM:181350 ICD10:G71.0 GARD:0002101" +MONDO:0020336 "Autosomal dominant form of Emery-Dreifuss muscular dystrophy." "OMIM:614302 ICD10CM:G71.0 OMIM:612998 OMIM:612999 UMLS:C0410190 Orphanet:98853 OMIM:181350 GARD:0002101" MONDO:0007736 "OMIM:143020" MONDO:0005339 "OMIM:300710 DOID:0050801 EFO:0004191 OMIM:109200 SCTID:87872006 OMIM:612421 ICD9:704.09 GARD:0009269" UBERON:0011202 @@ -6602,10 +6595,10 @@ CL:1000492 "A mesothelial cell that is part of the parietal pleura." "FMA:86738" MONDO:0022468 "An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections." "GARD:0000732" MONDO:0011221 "OMIM:602418 GARD:0010178 MESH:C536696 UMLS:C1865566" MONDO:0014426 "Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene." "Orphanet:35612 OMIM:615972 UMLS:C4014848" -MONDO:0016130 "Orphanet:207000 ICD10:M60.0 SCTID:240111007 UMLS:C0410251" +MONDO:0016130 "Orphanet:207000 ICD10CM:M60.0 SCTID:240111007 UMLS:C0410251" MONDO:0021674 "A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations." "ICD9:139.8 SCTID:123948009" http://identifiers.org/hgnc/25660 -MONDO:0009818 "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." "SCTID:254122007 DOID:0110941 MESH:C536058 NCIT:C118438 ICD10:Q78.2 GARD:0004154 OMIM:259730 OMIM:267200 ICD9:588.89 Orphanet:2785" +MONDO:0009818 "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." "SCTID:254122007 DOID:0110941 MESH:C536058 NCIT:C118438 GARD:0004154 OMIM:259730 OMIM:267200 ICD10CM:Q78.2 ICD9:588.89 Orphanet:2785" CHR:9606-chr5 MONDO:0010289 "OMIM:300271 MESH:C564547 Orphanet:777 UMLS:C1846038" MONDO:0006538 @@ -6617,20 +6610,20 @@ http://identifiers.org/hgnc/7534 MONDO:0012686 "OMIM:611536 MESH:C567075" MONDO:0017592 "Orphanet:300579 UMLS:C0854511 MedDRA:10041932" SO:0000571 "A region that can be transcribed into a microRNA (miRNA)." -MONDO:0019358 "Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." "OMIM:272300 SCTID:715980003 OMIM:252150 ICD10:E72.1 Orphanet:833 OMIM:615501 UMLS:C4275019 OMIM:252160" +MONDO:0019358 "Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." "ICD10CM:E72.1 OMIM:272300 SCTID:715980003 OMIM:252150 Orphanet:833 OMIM:615501 UMLS:C4275019 OMIM:252160" http://identifiers.org/hgnc/15804 UBERON:0011203 -MONDO:0016395 "OMIM:136520 Orphanet:2253 ICD10:H26.0 UMLS:C2931644 MESH:C537858" +MONDO:0016395 "ICD10CM:H26.0 OMIM:136520 Orphanet:2253 UMLS:C2931644 MESH:C537858" MONDO:0006279 "A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." "NCIT:C45540 SCTID:707460002 ONCOTREE:SARCL ICD9:162.9 EFO:1000336" http://identifiers.org/hgnc/7797 MONDO:0013412 "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene." "OMIM:613765 UMLS:C1861065 MESH:C566044 DOID:0110315" GO:0046952 "The chemical reactions and pathways resulting in the breakdown of ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone. Ketone bodies can be used as an energy source as an alternative to glucose. Utilization of ketone bodies in peripheral tissues involves conversion of acetoacetate to acetoacetyl-CoA, which is then converted to two molecules of acetyl-CoA." NCIT:C16203 -MONDO:0012719 "Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." "UMLS:C4303785 SCTID:720864008 MESH:C567125 OMIM:611721 GARD:0012505 DOID:0111330 Orphanet:139406 UMLS:C2673635 ICD10:E75.2" +MONDO:0012719 "Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses." "UMLS:C4303785 ICD10CM:E75.2 SCTID:720864008 MESH:C567125 OMIM:611721 GARD:0012505 DOID:0111330 Orphanet:139406 UMLS:C2673635" CHR:9606-chr4 HP:0012503 "An anomaly of the pituitary gland." "MSH:D010900 SNOMEDCT_US:399244003 UMLS:C0032002" http://identifiers.org/hgnc/17366 -MONDO:0007244 "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described." "MESH:D006958 Orphanet:1310 UMLS:C0020497 ICD9:756.59 DOID:4257 SCTID:24752008 GARD:0001051 ICD10:M89.8 NCIT:C118423 OMIM:114000" +MONDO:0007244 "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described." "MESH:D006958 Orphanet:1310 ICD10CM:M89.8 UMLS:C0020497 ICD9:756.59 DOID:4257 SCTID:24752008 GARD:0001051 NCIT:C118423 OMIM:114000" MONDO:0000460 "A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5." "UMLS:C3828832 DOID:0050806 NCIT:C111693" http://identifiers.org/hgnc/20766 MONDO:0009037 "OMIM:218530 UMLS:C1857493 MESH:C565666" @@ -6640,11 +6633,11 @@ MONDO:0012687 "OMIM:611543 MESH:C566924 Orphanet:464760 UMLS:C1969063" MONDO:0018790 "Orphanet:477765 UMLS:CN776855" UBERON:0010005 http://identifiers.org/hgnc/8996 -MONDO:0009234 "A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis." "SCTID:27312002 NCIT:C98946 Orphanet:483 DOID:0111676 GARD:0002684 OMIM:228960 ICD10:D68.8 MESH:C537060 ICD9:286.9" +MONDO:0009234 "A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis." "SCTID:27312002 NCIT:C98946 Orphanet:483 DOID:0111676 GARD:0002684 ICD10CM:D68.8 OMIM:228960 MESH:C537060 ICD9:286.9" UBERON:0008907 -MONDO:0001385 "Visual impairment due to visual cortex dysfunction." "ICD10:H47.61 MESH:D019575 SCTID:68574006 UMLS:C0155320 NCIT:C118707 DOID:11831 ICD9:377.75" -MONDO:0019412 "Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry." "UMLS:C4302548 SCTID:722434004 ICD10:Q78.4 Orphanet:85198" -MONDO:0011582 "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene." "Orphanet:401869 OMIM:605711 UMLS:CN226135 DOID:0080133 UMLS:C3276432 ICD10:E88.8 Orphanet:289573" +MONDO:0001385 "Visual impairment due to visual cortex dysfunction." "MESH:D019575 SCTID:68574006 UMLS:C0155320 NCIT:C118707 DOID:11831 ICD9:377.75" +MONDO:0019412 "Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry." "UMLS:C4302548 SCTID:722434004 Orphanet:85198 ICD10CM:Q78.4" +MONDO:0011582 "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene." "Orphanet:401869 ICD10CM:E88.8 OMIM:605711 UMLS:CN226135 DOID:0080133 UMLS:C3276432 Orphanet:289573" MONDO:0024410 "A disease caused by infection with Bifidobacterium." "UMLS:C1096283 SCTID:721759009" HP:0001880 "Increased count of eosinophils in the blood." "UMLS:C0014457 MSH:D004802" http://identifiers.org/hgnc/13406 @@ -6652,11 +6645,11 @@ GO:0045259 "A proton-transporting two-sector ATPase complex that catalyzes the p CHEBI:33847 "A monocyclic aromatic hydrocarbon." MONDO:0014266 "Any age-related macular degeneration in which the cause of the disease is a mutation in the C9 gene." "UMLS:C3810042 DOID:0110027 OMIM:615591" MONDO:0001315 "A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder." "SCTID:191962000 DOID:11569 ICD9:306.2 MESH:D009449" -MONDO:0018912 "Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin." "ICD10:E24.9 ICD10:E24.0 MedDRA:10020610 GARD:0006224 NCIT:C2969 ICD10:E24.4 ICD10:E24.8 ICD10:E24 UMLS:C0010481 ICD10:E24.2 MedDRA:10020564 MedDRA:10011652 ICD10:E24.3 OMIM:219090 EFO:0003099 MESH:D003480 ICD9:255.0 Orphanet:553 MedDRA:10020562 ICD10:E24.1" +MONDO:0018912 "Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin." "ICD10CM:E24.0 ICD10CM:E24.4 MedDRA:10020610 GARD:0006224 NCIT:C2969 ICD10CM:E24.8 ICD10CM:E24.2 ICD10CM:E24.3 ICD10CM:E24 UMLS:C0010481 MedDRA:10020564 MedDRA:10011652 OMIM:219090 EFO:0003099 MESH:D003480 ICD10CM:E24.1 ICD9:255.0 Orphanet:553 MedDRA:10020562 ICD10CM:E24.9" CHR:9606-chr3 -MONDO:0019752 "Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms." "Orphanet:93682 UMLS:CN206684 ICD10:D36.0" +MONDO:0019752 "Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms." "Orphanet:93682 UMLS:CN206684 ICD10CM:D36.0" MONDO:0008937 "OMIM:212890 UMLS:C1859303 MESH:C565868" -MONDO:0008998 "Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood." "Orphanet:191 OMIM:216400 ICD10:Q87.8 Orphanet:90324 GARD:0001417 OMIM:216411 OMIM:133540" +MONDO:0008998 "Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood." "Orphanet:191 OMIM:216400 ICD10CM:Q87.8 Orphanet:90324 GARD:0001417 OMIM:216411 OMIM:133540" UBERON:0015165 MONDO:0018791 "Orphanet:477768" MONDO:0010025 "UMLS:C1849235 OMIM:269870 MESH:C564821" @@ -6664,7 +6657,7 @@ HP:0100547 "An abnormality of the forebrain, which has as its parts the telencep MONDO:0018538 "Orphanet:425003 UMLS:CN237539" MONDO:0000443 GO:0042493 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease." -MONDO:0017052 "Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation." "SCTID:405287008 OMIM:615135 Orphanet:268162 ICD10:E71.0 OMIM:248600" +MONDO:0017052 "Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation." "SCTID:405287008 OMIM:615135 ICD10CM:E71.0 Orphanet:268162 OMIM:248600" CHEBI:22977 MONDO:0002627 "An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation." "DOID:3372 ONCOTREE:CHOS UMLS:C0279603 ICDO:9181/3 NCIT:C4021" GO:0010608 "Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript." @@ -6672,18 +6665,18 @@ http://identifiers.org/hgnc/12463 MONDO:0003694 "A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures." "NCIT:C40086 DOID:5896 UMLS:C1518695" MONDO:0100130 "A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%." "UMLS:C0035222 SCTID:67782005 MESH:D012128 Orphanet:70578 DOID:11394" UBERON:0004105 -MONDO:0005568 "Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset." "ICD9:459.89 DOID:1461 ICD10:I75 EFO:0005801 ICD9:445 MESH:D017700 UMLS:C0149649 SCTID:307406004 UMLS:C0585266" +MONDO:0005568 "Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset." "ICD9:459.89 DOID:1461 EFO:0005801 ICD9:445 MESH:D017700 UMLS:C0149649 SCTID:307406004 UMLS:C0585266" ENVO:01001483 "A surface layer where the solid or liquid material of an astronomical body comes into contact with an atmosphere or outer space." -MONDO:0013051 "Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported." "MESH:C567855 ICD10:Q82.8 GARD:0001641 UMLS:C2751987 DOID:0070137 OMIM:612940 ICD10CM:Q82.8 Orphanet:357064" +MONDO:0013051 "Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported." "MESH:C567855 GARD:0001641 UMLS:C2751987 DOID:0070137 OMIM:612940 ICD10CM:Q82.8 Orphanet:357064" CHEBI:35222 "A substance that diminishes the rate of a chemical reaction." MONDO:0008213 "A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax." "SCTID:391987005 MESH:D005660 OMIM:169300 ICD9:754.81 HP:0000767" MONDO:0100051 "Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable." -MONDO:0008221 "Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly." "Orphanet:742 NCIT:C85029 ICD10:E72.8 DOID:0111540 MESH:D056732 OMIM:170100 UMLS:C0268532 SCTID:410055005 GARD:0007473" +MONDO:0008221 "Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly." "Orphanet:742 NCIT:C85029 DOID:0111540 MESH:D056732 ICD10CM:E72.8 OMIM:170100 UMLS:C0268532 SCTID:410055005 GARD:0007473" UBERON:0010009 -MONDO:0007482 "Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis." "OMIM:127350 Orphanet:1765 ICD10:Q87.8 UMLS:C1851986 MESH:C565080 GARD:0001994" +MONDO:0007482 "Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis." "OMIM:127350 Orphanet:1765 UMLS:C1851986 MESH:C565080 GARD:0001994 ICD10CM:Q87.8" MONDO:0002944 "A carcinoma that arises from epithelial cells of the external ear" "UMLS:C1333492 NCIT:C6081 DOID:4288" GO:0015696 "The directed movement of ammonium into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Ammonium is the cation NH4+ which is formed from N2 by root-nodule bacteria in leguminous plants and is an excretory product in ammonotelic animals." -MONDO:0011662 "A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity." "ICD9:312.31 OMIM:606349 MESH:D005715 SCTID:18085000 DOID:12399 ICD10:F63.0 EFO:1001926 NCIT:C94335" +MONDO:0011662 "A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity." "ICD9:312.31 OMIM:606349 MESH:D005715 ICD10CM:F63.0 SCTID:18085000 DOID:12399 EFO:1001926 NCIT:C94335" MONDO:0018539 "Orphanet:425368 UMLS:CN237541" CHR:9606-chr9 MONDO:0021176 "Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies." "UMLS:C4303163 SCTID:721712002 Orphanet:563581" @@ -6691,7 +6684,7 @@ CHEBI:78505 "A toxin used by animals and injected into their victims by a bite o MONDO:0000442 MONDO:0025385 "A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet." "MESH:D001819 UMLS:C0005866" CL:1001434 "A neuron residing in the olfactory bulb that serve to process and refine signals arising from olfactory sensory neurons" -MONDO:0017792 "7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated." "UMLS:CN203742 Orphanet:314034 SCTID:764703002 ICD10:Q92.3" +MONDO:0017792 "7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated." "UMLS:CN203742 Orphanet:314034 SCTID:764703002" MONDO:0024418 "Orphanet:2033 GARD:0003857" MONDO:0011456 "Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene." "Orphanet:655 UMLS:C1858392 MESH:C565780 OMIM:604387 DOID:0111114" MONDO:0006597 "Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy." "SCTID:22649008 EFO:1000752 UMLS:C0031762 MESH:D010787 DOID:3159" @@ -6701,39 +6694,39 @@ CL:0000393 "A cell whose function is determined by its response to an electric s UBERON:0002809 MONDO:0021177 "Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens." "SCTID:721713007 UMLS:C4303162" UBERON:0005305 -MONDO:0013081 "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.." "Orphanet:538963 MESH:C567815 NCIT:C126344 UMLS:C3552634 Orphanet:238505 DOID:0060707 OMIM:613011 ICD10:D47.9" -MONDO:0007727 "Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis." "DOID:0090018 OMIM:142680 MESH:C536657 NCIT:C119051 ICD10:E85.0 Orphanet:32960 GARD:0008457 SCTID:403833009" -MONDO:0010866 "This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus." "MESH:C536055 GARD:0010082 OMIM:259720 ICD10:Q78.2 OMIM:600329 SCTID:724226009 UMLS:C1838258 Orphanet:85179" +MONDO:0013081 "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.." "Orphanet:538963 MESH:C567815 NCIT:C126344 UMLS:C3552634 Orphanet:238505 DOID:0060707 OMIM:613011" +MONDO:0007727 "Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis." "ICD10CM:E85.0 DOID:0090018 OMIM:142680 MESH:C536657 NCIT:C119051 Orphanet:32960 GARD:0008457 SCTID:403833009" +MONDO:0010866 "This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus." "MESH:C536055 GARD:0010082 OMIM:259720 OMIM:600329 ICD10CM:Q78.2 SCTID:724226009 UMLS:C1838258 Orphanet:85179" CP:0000000 "Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain." -MONDO:0020412 "Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported." "Orphanet:99072 ICD10:Q25.8 SCTID:763316006" +MONDO:0020412 "Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported." "Orphanet:99072 ICD10CM:Q25.8 SCTID:763316006" CL:0002252 "An epithelial cell of the esophagus." "FMA:63071" NCBITaxon:44537 "GC_ID:1" MONDO:0024414 "ICD9:682.9 UMLS:C0241828 SCTID:238401006 ICD9:041.84" CHR:9606-chr8 NCBITaxon:3754 "GC_ID:1 PMID:24631854" -MONDO:0018473 "Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." "GARD:0006703 UMLS:C0020479 UMLS:C1862561 OMIM:617347 SCTID:398796005 Orphanet:412 ICD10:E78.2 NCIT:C34710 DOID:3145 MedDRA:10060751" +MONDO:0018473 "Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease." "GARD:0006703 UMLS:C0020479 UMLS:C1862561 OMIM:617347 ICD10CM:E78.2 SCTID:398796005 Orphanet:412 NCIT:C34710 DOID:3145 MedDRA:10060751" GO:1901401 "Any process that modulates the frequency, rate or extent of tetrapyrrole metabolic process." MONDO:0000441 MONDO:0010280 "OMIM:300245 MESH:C564553 Orphanet:91411 UMLS:C1846128" -MONDO:0019408 "Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases." "GARD:0009220 MESH:C535392 Orphanet:85175 ICD10:Q77.3 UMLS:C1300228 SCTID:389263004" +MONDO:0019408 "Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases." "ICD10CM:Q77.3 GARD:0009220 MESH:C535392 Orphanet:85175 UMLS:C1300228 SCTID:389263004" GO:0035239 "The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system." MONDO:0012371 "Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene." "GARD:0009885 UMLS:C1860991 Orphanet:648 MESH:C537847 DOID:0060581 OMIM:609942" HP:0010935 "An abnormality of the upper urinary tract." "UMLS:C4023641" MONDO:0002707 "An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis." "NCIT:C9131 ONCOTREE:IMMC SCTID:444712000 DOID:3610 UMLS:C1334807" -MONDO:0019856 "OBSOLETE. Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal." "ICD10:E03.1 ICD10:E03.0 Orphanet:95714" -MONDO:0011113 "Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported." "ICD10:G60.0 NCIT:C129864 DOID:0110183 GARD:0009201 OMIM:601596 SCTID:715797002 MESH:C535423 UMLS:C1866636 Orphanet:99949" +MONDO:0019856 "OBSOLETE. Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal." "ICD10CM:E03.1 Orphanet:95714 ICD10CM:E03.0" +MONDO:0011113 "Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported." "ICD10CM:G60.0 NCIT:C129864 DOID:0110183 GARD:0009201 OMIM:601596 SCTID:715797002 MESH:C535423 UMLS:C1866636 Orphanet:99949" HP:0000002 "Deviation from the norm of height with respect to that which is expected according to age and gender norms." "UMLS:C4025901" MONDO:0003098 "A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma." "DOID:4691 UMLS:C1334672 NCIT:C6624" -MONDO:0011480 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene." "OMIM:604717 ICD10:H90.3 UMLS:C1858172 DOID:0110550 MESH:C565754 Orphanet:90635" +MONDO:0011480 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene." "OMIM:604717 UMLS:C1858172 DOID:0110550 MESH:C565754 Orphanet:90635" MONDO:0000440 "SCTID:59455009 DOID:0050758" NCBITaxon:480418 "PMID:25831531 PMID:19019760 GC_ID:11" -MONDO:0004805 "A disease involving leukocytes." "ICD9:288 DOID:9500 SCTID:54097007 UMLS:C0023510 MESH:D007960 ICD10:D72.9 ICD9:288.9" +MONDO:0004805 "A disease involving leukocytes." "ICD9:288 DOID:9500 SCTID:54097007 UMLS:C0023510 MESH:D007960 ICD9:288.9" HP:0003366 "UMLS:C4025622" MONDO:0024415 "ICD9:535.61 UMLS:C0341245 SCTID:95531001" CHR:9606-chr7 -MONDO:0000989 "A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease." "SCTID:36989005 GARD:0007116 NCIT:C29888 EFO:0007383 ICD10:B26.9 DOID:10264 MESH:D009107 MESH:D019351 ICD10:B26 ICD9:072 UMLS:C0026780" -MONDO:0022018 "UMLS:C1859406 MESH:C536577 GARD:0000939" -MONDO:0005962 "Tuberculosis of the bones or joints." "EFO:0007487 SCTID:17653001 UMLS:C0041324 DOID:1639 ICD9:015 ICD10:A18.0 ICD9:015.9 MESH:D014394" +MONDO:0000989 "A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease." "SCTID:36989005 GARD:0007116 ICD10CM:B26 NCIT:C29888 EFO:0007383 DOID:10264 MESH:D009107 MESH:D019351 ICD9:072 UMLS:C0026780" +MONDO:0022018 "UMLS:C1859406 MESH:C536577 GARD:0000939 OMIM:211170" +MONDO:0005962 "Tuberculosis of the bones or joints." "EFO:0007487 SCTID:17653001 UMLS:C0041324 DOID:1639 ICD9:015 ICD9:015.9 MESH:D014394" GO:0000790 UBERON:0004108 http://identifiers.org/hgnc/1440 @@ -6745,9 +6738,9 @@ MONDO:0006090 "A non-neoplastic polyp that arises from the appendix. It is chara GO:0015108 "Enables the transfer of chloride ions from one side of a membrane to the other." http://identifiers.org/hgnc/20761 MONDO:0042495 "A arteriosclerosis disorder that involves the retina." "GARD:0000113 UMLS:C0339478 ICD9:440.8 SCTID:95691008" -MONDO:0008393 "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene." "NCIT:C153290 Orphanet:353277 UMLS:C0035934 ICD10:Q87.2 Orphanet:783 OMIM:180849" +MONDO:0008393 "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene." "NCIT:C153290 ICD10CM:Q87.2 Orphanet:353277 UMLS:C0035934 Orphanet:783 OMIM:180849" UBERON:0001608 -MONDO:0007032 "Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes." "OMIM:100100 UMLS:C0033770 MESH:C536477 DOID:0060889 GARD:0007479 NCIT:C85033 SCTID:5187006 MESH:D011535 ICD10:Q79.4 UMLS:C0265363 Orphanet:2970 ICD9:756.71 MedDRA:10051025" +MONDO:0007032 "Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes." "OMIM:100100 UMLS:C0033770 ICD10CM:Q79.4 MESH:C536477 DOID:0060889 GARD:0007479 NCIT:C85033 SCTID:5187006 MESH:D011535 UMLS:C0265363 Orphanet:2970 ICD9:756.71 MedDRA:10051025" UBERON:0007702 UBERON:0005565 MONDO:0006576 "Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)" "UMLS:C0024081 UMLS:C3247204 Wikipedia:Ludwig's_angina SCTID:196542004 MESH:D008158 EFO:1000730 ICD9:528.3 DOID:4558" @@ -6757,16 +6750,16 @@ GO:0045657 "Any process that activates or increases the frequency, rate or exten http://identifiers.org/hgnc/10906 UBERON:0002806 UBERON:0004367 -MONDO:0005212 "A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites." "ICDO:8900/3 OMIM:268210 SCTID:302847003 MedDRA:10039022 ICD9:171.9 ICD10:C49.9 HP:0002859 ONCOTREE:RMS DOID:3247 UMLS:C0035412 EFO:0002918 NCIT:C3359 MESH:D012208 Orphanet:780 OMIM:268220" -MONDO:0019731 "Orphanet:93560 ICD10:E85.0 UMLS:CN206638" -MONDO:0017336 "Orphanet:289527 ICD10:I42.2" +MONDO:0005212 "A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites." "ICDO:8900/3 OMIM:268210 SCTID:302847003 MedDRA:10039022 ICD9:171.9 HP:0002859 ONCOTREE:RMS DOID:3247 UMLS:C0035412 EFO:0002918 ICD10CM:C49.9 NCIT:C3359 MESH:D012208 Orphanet:780 OMIM:268220" +MONDO:0019731 "ICD10CM:E85.0 Orphanet:93560 UMLS:CN206638" +MONDO:0017336 "ICD10CM:I42.2 Orphanet:289527" MONDO:0010282 "OMIM:300259" MONDO:0019997 "Orphanet:97935 UMLS:CN206933" -MONDO:0013570 "Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement." "ICD10:I42.2 DOID:0111479 UMLS:C3279793 Orphanet:319504 OMIM:614096 SCTID:733600007 UMLS:C4518839" +MONDO:0013570 "Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement." "DOID:0111479 UMLS:C3279793 Orphanet:319504 OMIM:614096 SCTID:733600007 UMLS:C4518839 ICD10CM:I42.2" GO:0042113 "The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific." UBERON:0001607 NCBITaxon:44534 "GC_ID:1" -MONDO:0015441 "Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis)." "SCTID:765489006 NCIT:C121986 ICD10:Q93.2 MESH:C537813 GARD:0001345 Orphanet:1449" +MONDO:0015441 "Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis)." "SCTID:765489006 NCIT:C121986 MESH:C537813 ICD10CM:Q93.2 GARD:0001345 Orphanet:1449" MONDO:0016138 "Orphanet:207046" http://identifiers.org/hgnc/13666 NCBITaxon:1351 "GC_ID:11" @@ -6780,53 +6773,53 @@ UBERON:0002805 MONDO:0015067 "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon." "NCIT:C135212" NCBITaxon:526524 "PMID:23606477 GC_ID:11" MONDO:0005707 "A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting." "UMLS:C0009187 ICD9:007.2 MESH:D003048 EFO:0007212 SCTID:62005008 DOID:2113 NCIT:C34493" -MONDO:0020431 "Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases." "Orphanet:99100 ICD10:Q20.8" +MONDO:0020431 "Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases." "Orphanet:99100 ICD10CM:Q20.8" MONDO:0003444 "A rare adenoma that arises from the intrahepatic biliary tree." "NCIT:C7126 UMLS:C1331535 DOID:5437" -MONDO:0016263 "A primitive neuroectodermal tumor that involves the body of uterus." "ICD10:C54.8 UMLS:CN201052 Orphanet:213630 ICD10:C54.3 ICD10:C54.1 ICD10:C54.0 ICD10:C54.2" +MONDO:0016263 "A primitive neuroectodermal tumor that involves the body of uterus." "UMLS:CN201052 ICD10CM:C54.0 ICD10CM:C54.3 Orphanet:213630 ICD10CM:C54.8 ICD10CM:C54.2 ICD10CM:C54.1" MONDO:0044269 "OBSOLETE. Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related." "OMIM:601696" MONDO:0012141 "Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene." "Orphanet:1991 OMIM:608864 DOID:0080593" -MONDO:0002507 "Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)" "ICD9:523.8 SCTID:54711002 ICD10:K06.1 DOID:3086 MESH:D019214" -MONDO:0001265 "A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning." "SCTID:88975006 NCIT:C94376 ICD10:F20.81 ICD9:295.4 DOID:11328" +MONDO:0002507 "Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)" "ICD9:523.8 SCTID:54711002 DOID:3086 MESH:D019214" +MONDO:0001265 "A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning." "SCTID:88975006 NCIT:C94376 ICD10CM:F20.81 ICD9:295.4 DOID:11328" PATO:0000001 "A dependent entity that inheres in a bearer by virtue of how the bearer is related to other entities" -MONDO:0018844 "Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever." "SCTID:17234001 MedDRA:10065375 Orphanet:488 ICD10:Q64.4 MESH:D014496 NCIT:C85216 GARD:0005425 HP:0012618" +MONDO:0018844 "Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever." "SCTID:17234001 MedDRA:10065375 Orphanet:488 ICD10CM:Q64.4 MESH:D014496 NCIT:C85216 GARD:0005425 HP:0012618" GO:0006793 "The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4)." MONDO:0013881 "Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair." "Orphanet:306504 OMIM:614748 UMLS:C3553636" GO:0002263 "A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response." -MONDO:0018532 "ICD10:C22.1 UMLS:CN242181 ICD10:C22.0 Orphanet:424943" +MONDO:0018532 "UMLS:CN242181 Orphanet:424943" MONDO:0018798 "UMLS:CN776936 Orphanet:477808" UBERON:0005567 MONDO:0016137 "Orphanet:207038" MONDO:0019238 "ANPM" "DOID:0050832 MedDRA:10070969 Orphanet:79193" GO:0043648 "The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing two carboxyl (COOH) groups or anions (COO-)." ENVO:01000996 "An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures." -MONDO:0017186 "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide." "ICD10:E16.1 Orphanet:276585" -MONDO:0016045 "Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins." "UMLS:CN200724 ICD10:Q99.0 Orphanet:199310" +MONDO:0017186 "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide." "ICD10CM:E16.1 Orphanet:276585" +MONDO:0016045 "Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins." "UMLS:CN200724 Orphanet:199310" NCBITaxon:526525 "GC_ID:11" UBERON:0002808 MONDO:0022900 "Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)" "GARD:0001610" -MONDO:0019733 "ICD10:E85.0 Orphanet:93562 UMLS:CN206640" +MONDO:0019733 "ICD10CM:E85.0 Orphanet:93562 UMLS:CN206640" UBERON:0004103 UBERON:0000409 http://identifiers.org/hgnc/1445 MONDO:0100421 "Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)" "NCIT:C82340" MONDO:0019999 "Orphanet:97945" -MONDO:0001973 "A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia." "ICD9:023.1 DOID:14457 MESH:D002007 ICD10:A23.1 SCTID:427795000" -MONDO:0011534 "Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies." "DOID:0110196 UMLS:C1854449 Orphanet:99953 GARD:0010132 ICD10:G60.0 MESH:C535813 OMIM:605285 SCTID:715799004" +MONDO:0001973 "A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia." "ICD9:023.1 DOID:14457 MESH:D002007 SCTID:427795000" +MONDO:0011534 "Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies." "DOID:0110196 UMLS:C1854449 Orphanet:99953 GARD:0010132 ICD10CM:G60.0 MESH:C535813 OMIM:605285 SCTID:715799004" MONDO:0010459 "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene." "Orphanet:803 DOID:0060206 UMLS:C3275459 OMIM:300857" -MONDO:0013259 "Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene." "UMLS:C3150678 Orphanet:75382 OMIM:613411 DOID:0110713" -MONDO:0003962 "Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today." "SCTID:62999006 ICD10:E23.6 NCIT:C34625 DOID:6676 MESH:D007027 GARD:0006463 ICD9:253.8" -MONDO:0010204 "Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." "Orphanet:75233 GARD:0012097 Orphanet:75234 DOID:0080217 Orphanet:275761 OMIM:278000 SCTID:715923003 UMLS:C0043208 ICD10:E75.5 MESH:C531854" +MONDO:0013259 "Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene." "UMLS:C3150678 OMIM:613411 Orphanet:75382 DOID:0110713" +MONDO:0003962 "Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today." "SCTID:62999006 NCIT:C34625 DOID:6676 MESH:D007027 GARD:0006463 ICD9:253.8" +MONDO:0010204 "Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis." "Orphanet:75233 GARD:0012097 Orphanet:75234 DOID:0080217 Orphanet:275761 OMIM:278000 SCTID:715923003 UMLS:C0043208 ICD10CM:E75.5 MESH:C531854" http://identifiers.org/hgnc/9936 -MONDO:0010143 "Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities." "GARD:0001516 DOID:0060762 SCTID:400128006 UMLS:C0406585 ICD10:Q82.8 Orphanet:1662 OMIM:275210 MESH:C536920" -MONDO:0009940 "Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery." "SCTID:89647000 MESH:D058631 NCIT:C131187 ICD10:Q78.8 UMLS:C0238402 OMIM:265800 Orphanet:763 GARD:0004611 DOID:0080038" +MONDO:0010143 "Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities." "GARD:0001516 ICD10CM:Q82.8 DOID:0060762 SCTID:400128006 UMLS:C0406585 Orphanet:1662 OMIM:275210 MESH:C536920" +MONDO:0009940 "Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery." "SCTID:89647000 MESH:D058631 NCIT:C131187 UMLS:C0238402 ICD10CM:Q78.8 OMIM:265800 Orphanet:763 GARD:0004611 DOID:0080038" UBERON:0005568 -MONDO:0016136 "ICD10:G60.2 Orphanet:207028" +MONDO:0016136 "Orphanet:207028" MONDO:0100270 "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene." -MONDO:0011080 "Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease)." "UMLS:C1832354 SCTID:715529009 GARD:0005170 Orphanet:3235 ICD10:H74.3 OMIM:601449 MESH:C563316" +MONDO:0011080 "Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease)." "UMLS:C1832354 SCTID:715529009 ICD10CM:H74.3 GARD:0005170 Orphanet:3235 OMIM:601449 MESH:C563316" UBERON:0002807 CHEBI:22978 MONDO:0019998 "Orphanet:97944" -MONDO:0019732 "UMLS:CN206639 ICD10:E85.0 Orphanet:93561" +MONDO:0019732 "ICD10CM:E85.0 UMLS:CN206639 Orphanet:93561" MONDO:0003364 "An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells." "DOID:5275 UMLS:C1333746 NCIT:C5841" http://identifiers.org/hgnc/10069 NCBITaxon:3750 "GC_ID:1" @@ -6834,20 +6827,20 @@ MONDO:0002785 "A benign or malignant neoplasm that affects the skull base." "MES CHEBI:23905 MONDO:0004306 "A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis." "UMLS:C1332974 NCIT:C6590 DOID:7612" HP:0010972 "A kind of anemia characterized by inadequate production of erythrocytes." "UMLS:C0678199 SNOMEDCT_US:70730006 UMLS:C0392708" -MONDO:0005673 "A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis." "UMLS:C0005750 EFO:0007175 DOID:10606 NCIT:C34431 ICD9:579.2 MESH:D001765 ICD10:K90.2 SCTID:66379009" +MONDO:0005673 "A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis." "UMLS:C0005750 EFO:0007175 DOID:10606 NCIT:C34431 ICD9:579.2 MESH:D001765 SCTID:66379009" MONDO:0004080 "A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom." "DOID:7031 NCIT:C8186 UMLS:C0280325" -MONDO:0002118 "A disease involving the renal system." "ICD9:V47.4 UMLS:C1335051 MESH:D014570 SCTID:128606002 NCIT:C3430 DOID:18" +MONDO:0002118 "A disease involving the renal system." "ICD9:V47.4 UMLS:C1335051 MESH:D014570 SCTID:128606002 NCIT:C3430 ICD10CM:N30-N39 DOID:18" UBERON:0005343 MONDO:0014324 "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene." "Orphanet:2309 UMLS:C3714948 OMIM:615726" -MONDO:0012495 "Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips." "GARD:0010057 OMIM:610442 ICD10:Q77.7 MESH:C535785 Orphanet:168454 UMLS:C1864872 DOID:0080576" +MONDO:0012495 "Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips." "GARD:0010057 OMIM:610442 MESH:C535785 Orphanet:168454 ICD10CM:Q77.7 UMLS:C1864872 DOID:0080576" GO:0043066 "Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process." MONDO:0006737 "Slow or difficult obstetric labor or childbirth." "MESH:D004420 EFO:1000911" MONDO:0000416 -MONDO:0017990 "Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." "GARD:0004421 OMIM:604772 Orphanet:3286 OMIM:614916 OMIM:611938 OMIMPS:604772 DOID:0060674 OMIM:614021 MESH:C536334 OMIM:615441 ICD10:I47.2 SCTID:419671004 UMLS:C1631597" +MONDO:0017990 "Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." "GARD:0004421 OMIM:604772 Orphanet:3286 OMIM:614916 OMIM:611938 OMIMPS:604772 DOID:0060674 ICD10CM:I47.2 OMIM:614021 MESH:C536334 OMIM:615441 SCTID:419671004 UMLS:C1631597" MONDO:0030334 "OMIM:619441" MONDO:0017384 "A widespread acute rash characterized by fever and multiple small pustules on a reddish background." "ICD9:709.8 MedDRA:10048799 NCIT:C112122 MESH:D056150 SCTID:702617007 UMLS:C0877055 Orphanet:293173" UBERON:0004145 -MONDO:0012256 "Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs." "DOID:0110779 Orphanet:101008 UMLS:C1836295 OMIM:609340 MESH:C563732 ICD10:G11.4 SCTID:763376002" +MONDO:0012256 "Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs." "DOID:0110779 Orphanet:101008 UMLS:C1836295 OMIM:609340 ICD10CM:G11.4 MESH:C563732 SCTID:763376002" MONDO:0004372 "UMLS:C1333048 NCIT:C35603 DOID:7825" MONDO:0007129 "Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene." "OMIM:106600 Orphanet:99798" MONDO:0002760 "A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming." "ONCOTREE:BLSC NCIT:C4031 DOID:3742 EFO:1000130 SCTID:255111004 UMLS:C0279681" @@ -6858,7 +6851,7 @@ NCBITaxon:6252 "GC_ID:1" MONDO:0006420 "A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine." "UMLS:C1336004 EFO:1000537 NCIT:C5635" MONDO:0003176 UBERON:0005344 -MONDO:0017264 "Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome." "ICD10:Q80.1 SCTID:717041008 UMLS:CN202782 UMLS:C4274085 OMIM:308100 Orphanet:281090" +MONDO:0017264 "Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome." "ICD10CM:Q80.1 SCTID:717041008 UMLS:CN202782 UMLS:C4274085 OMIM:308100 Orphanet:281090" GO:0150074 "Any process that activates or increases the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity." http://identifiers.org/hgnc/11281 NCBITaxon:213115 "PMID:16403855 GC_ID:11" @@ -6868,11 +6861,11 @@ UBERON:0004146 http://identifiers.org/hgnc/5173 MONDO:0030335 "OMIM:619445" MONDO:0005943 "Infections with nematodes of the order rhabditida." "UMLS:C0162631 EFO:0007468 GARD:0008203 MESH:D017196" -MONDO:0004620 "A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)" "MESH:D006689 ICD9:201.7 DOID:8628 ONCOTREE:LDCHL Orphanet:98846 NCIT:C9125 ICD10:C81.3 SCTID:118610003" +MONDO:0004620 "A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)" "MESH:D006689 ICD9:201.7 DOID:8628 ONCOTREE:LDCHL Orphanet:98846 NCIT:C9125 SCTID:118610003" GO:0061025 "The membrane organization process that joins two lipid bilayers to form a single membrane." HP:0002383 "UMLS:C0014038 SNOMEDCT_US:45170000 MSH:D004660" -MONDO:0001611 "SCTID:64324003 UMLS:C0155238 ICD9:375.33 ICD10:H04.31 DOID:12997" -MONDO:0003085 "A corneal disease that is characterized by inflammation of the cornea." "ICD9:370.8 ICD9:370 UMLS:C0022568 ICD10:H16 DOID:4677 ICD10:H16.9 MESH:D007634 SCTID:5888003 NCIT:C26805 ICD9:370.9" +MONDO:0001611 "SCTID:64324003 ICD10CM:H04.31 UMLS:C0155238 ICD9:375.33 DOID:12997" +MONDO:0003085 "A corneal disease that is characterized by inflammation of the cornea." "ICD9:370.8 ICD9:370 UMLS:C0022568 DOID:4677 MESH:D007634 SCTID:5888003 NCIT:C26805 ICD9:370.9 ICD10CM:H16" NCBITaxon:6251 "GC_ID:1" MONDO:0044705 "A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." "NCIT:C8193 UMLS:C0280334 Orphanet:500464" MONDO:0011138 "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene." "OMIM:601744" @@ -6880,7 +6873,7 @@ MONDO:0021529 "A benign neoplasm that involves the chest wall." "NCIT:C8529 UMLS GO:0002820 "Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response." http://identifiers.org/hgnc/11280 ENVO:01001682 "An object which is composed of a continuous mass of air." -MONDO:0010826 "Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis." "NCIT:C50436 OMIM:611136 Orphanet:64280 SCTID:50866000 OMIMPS:600131 ICD10:G40.A OMIM:611942 DOID:1825 ICD10:G40.3 OMIM:612269 OMIM:607681" +MONDO:0010826 "Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis." "NCIT:C50436 OMIM:611136 Orphanet:64280 SCTID:50866000 OMIMPS:600131 OMIM:611942 DOID:1825 ICD10CM:G40.3 OMIM:612269 OMIM:607681" CHEBI:36059 "Any monocarboxylic acid anion carrying at least one hydroxy substituent." SO:0001637 "A gene that encodes for ribosomal RNA." http://identifiers.org/hgnc/5172 @@ -6892,15 +6885,15 @@ GO:0098936 "The component of the postsynaptic membrane consisting of the gene pr GO:0042133 "The chemical reactions and pathways involving neurotransmitters, any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell." GO:0019955 "Binding to a cytokine, any of a group of proteins that function to control the survival, growth and differentiation of tissues and cells, and which have autocrine and paracrine activity." NCBITaxon:41191 "GC_ID:1" -MONDO:0008798 "Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene." "ICD10:Q84.3 MESH:C536377 Orphanet:94150 OMIM:206800 DOID:0080082 Orphanet:79143 DOID:0050643" +MONDO:0008798 "Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene." "MESH:C536377 Orphanet:94150 OMIM:206800 DOID:0080082 ICD10CM:Q84.3 Orphanet:79143 DOID:0050643" NCBITaxon:6250 "GC_ID:1" MONDO:0004468 "Paget disease involving the squamous epithelium of the anal canal." "UMLS:C1332261 NCIT:C7477 DOID:8119 SCTID:236811000119101" MONDO:0021948 "EFO:1001443 UMLS:C0041309 SCTID:66986005" -MONDO:0018604 "Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes." "ICD10:C18.4 ICD10:C18.7 NCIT:C120084 ICD10:C18.1 ICD10:C18.6 ICD10:C18.3 UMLS:CN237636 Orphanet:440437 ICD10:C18.5 ICD10:C18.0 UMLS:C3896578 ICD10:C18.2" +MONDO:0018604 "Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes." "ICD10CM:C18.2 ICD10CM:C18.7 ICD10CM:C18.4 NCIT:C120084 ICD10CM:C18.1 ICD10CM:C18.6 UMLS:CN237636 Orphanet:440437 ICD10CM:C18.3 UMLS:C3896578 ICD10CM:C18.0 ICD10CM:C18.5" NCBITaxon:72294 "PMID:29034857 GC_ID:11" NCBITaxon:1979161 NCBITaxon:1979160 -MONDO:0013495 "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene." "DOID:0060717 OMIM:613943 Orphanet:313 ICD10:Q80.2" +MONDO:0013495 "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene." "DOID:0060717 OMIM:613943 Orphanet:313" MONDO:0030333 "OMIM:619437" UBERON:0004148 MONDO:0032730 "OMIM:618404" @@ -6912,23 +6905,23 @@ CHEBI:37848 "A plant growth regulator that modulates the formation of stems, lea MONDO:0014917 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene." "UMLS:C4310716 DOID:0080454 OMIM:617106" http://identifiers.org/hgnc/11020 http://identifiers.org/hgnc/13681 -MONDO:0010005 "Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria." "SCTID:111397004 Orphanet:3124 MESH:C537218 OMIM:268700 UMLS:C0268556 ICD10:E72.3 GARD:0000314 ICD9:270.7" +MONDO:0010005 "Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria." "ICD10CM:E72.3 SCTID:111397004 Orphanet:3124 MESH:C537218 OMIM:268700 UMLS:C0268556 GARD:0000314 ICD9:270.7" HP:0030674 "Onset prior to birth." "UMLS:C2673646" UBERON:0001648 -MONDO:0007991 "Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant." "SCTID:716112005 ICD10:Q87.8 OMIM:156620 Orphanet:2533 UMLS:C0796062 GARD:0000230 MESH:C537326" +MONDO:0007991 "Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant." "SCTID:716112005 OMIM:156620 Orphanet:2533 UMLS:C0796062 GARD:0000230 ICD10CM:Q87.8 MESH:C537326" MONDO:0100135 "Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A." "SCTID:230437002 NCIT:C116573 DOID:0080422 GARD:0010430 UMLS:C0751122 ICD9:345.10 DOID:0060171" NCBITaxon:72293 "PMID:16403855 GC_ID:11 PMID:29034857" HP:0004329 "UMLS:C4025354" MONDO:0030330 "OMIM:619433" UBERON:0006544 -MONDO:0012071 "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene." "DOID:0111135 ICD10:E88.1 Orphanet:528 GARD:0000084 OMIM:608594" +MONDO:0012071 "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene." "DOID:0111135 Orphanet:528 GARD:0000084 OMIM:608594" CHR:9606-chr1q12-q21 -MONDO:0010208 "Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." "OMIM:278250 GARD:0000273 Orphanet:2834 MESH:C536750 ICD9:259.8 SCTID:238875009 UMLS:C0406587 Orphanet:357058 ICD10:Q82.8" +MONDO:0010208 "Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." "OMIM:278250 GARD:0000273 Orphanet:2834 MESH:C536750 ICD9:259.8 SCTID:238875009 UMLS:C0406587 Orphanet:357058 ICD10CM:Q82.8" UBERON:0004141 MONDO:0004723 "A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "DOID:917 UMLS:C1333968 NCIT:C5753" MONDO:0010844 "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene." "OMIM:600204 MESH:C535502 Orphanet:166002 DOID:0070298 UMLS:C1838429 GARD:0009791" HP:0000554 "Inflammation of one or all portions of the uveal tract." "SNOMEDCT_US:128473001 UMLS:C0042164 MSH:D014605" -MONDO:0009584 "Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe." "GARD:0003485 Orphanet:3079 MESH:C563095 UMLS:C0796080 SCTID:725906006 ICD10:Q87.8 OMIM:249630" +MONDO:0009584 "Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe." "GARD:0003485 Orphanet:3079 MESH:C563095 ICD10CM:Q87.8 UMLS:C0796080 SCTID:725906006 OMIM:249630" MONDO:0003257 "A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma." "DOID:5048 NCIT:C7157 UMLS:C1334957" UBERON:0001647 http://identifiers.org/hgnc/11285 @@ -6938,7 +6931,7 @@ CHEBI:140503 "An aluminosilicate soft white mineral named after the hill in Chin MONDO:0030331 "OMIM:619435" GO:0003044 "The regulation of blood pressure mediated by biochemical signaling: hormonal, autocrine or paracrine." HsapDv:0000134 "Adult stage that refers to an adult who is over 40 and under 41." -MONDO:0008686 "Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair." "Orphanet:170 DOID:0111572 MESH:C536745 OMIM:604379 MedDRA:10048017 OMIM:278150 UMLS:CN200245 SCTID:52564001 OMIM:615896 HP:0002224 ICD10:Q84.1 GARD:0005597 OMIM:616760" +MONDO:0008686 "Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair." "Orphanet:170 ICD10CM:Q84.1 DOID:0111572 MESH:C536745 OMIM:604379 MedDRA:10048017 OMIM:278150 UMLS:CN200245 SCTID:52564001 OMIM:615896 HP:0002224 GARD:0005597 OMIM:616760" UBERON:0004142 MONDO:0033092 "UMLS:CN321864 DOID:0080257 OMIM:617574" HP:0100037 "An abnormality of the hair of head." "UMLS:C4022384" @@ -6953,40 +6946,41 @@ MONDO:0002989 "A benign neoplasm composed of fibroblastic spindle cells in a who MONDO:0012939 "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene." "OMIM:612563 MESH:C567253 UMLS:C2675511" GO:1901576 "The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon." UBERON:0006542 -MONDO:0020443 "Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases." "ICD10:Q26.8 Orphanet:99112" +MONDO:0020443 "Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases." "ICD10CM:Q26.8 Orphanet:99112" MONDO:0001872 "UMLS:C0155379 SCTID:46888001 ICD9:379.54 DOID:14070" CHEBI:42724 "A 1-phenylpropan-2-amine that has R configuration." -MONDO:0018125 "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed." "Orphanet:352587 ICD10:Q04.8 UMLS:CN204502" -MONDO:0017452 "A non-syndromic brachydactyly that involves the pes." "ICD9:755.66 Orphanet:294998 SCTID:205346006 ICD10:Q72.8" +MONDO:0018125 "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed." "Orphanet:352587 UMLS:CN204502 ICD10CM:Q04.8" +MONDO:0017452 "A non-syndromic brachydactyly that involves the pes." "ICD10CM:Q72.8 ICD9:755.66 Orphanet:294998 SCTID:205346006" MONDO:0044923 "An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy." "ONCOTREE:AMLNPM1 NCIT:C82431 UMLS:C2826177 NCIT:C82429" CHEBI:23906 CHEBI:37581 "A lactone having a five-membered lactone ring." GO:0046942 "The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-)." GO:0048770 "A small, subcellular membrane-bounded vesicle containing pigment and/or pigment precursor molecules. Pigment granule biogenesis is poorly understood, as pigment granules are derived from multiple sources including the endoplasmic reticulum, coated vesicles, lysosomes, and endosomes." UBERON:0001649 -MONDO:0019195 "Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive." "UMLS:CN205775 SCTID:724349009 Orphanet:79091 OMIM:605637 GARD:0009494 ICD10:G71.8" -MONDO:0016842 "Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." "UMLS:CN202182 SCTID:724070005 UMLS:C4510306 Orphanet:261304 ICD10:Q93.5" +MONDO:0019195 "Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive." "UMLS:CN205775 SCTID:724349009 Orphanet:79091 OMIM:605637 GARD:0009494 ICD10CM:G71.8" +MONDO:0016842 "Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism." "ICD10CM:Q93.5 UMLS:CN202182 SCTID:724070005 UMLS:C4510306 Orphanet:261304" http://identifiers.org/hgnc/11283 GO:0048521 "Any process that stops, prevents, or reduces the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli." MONDO:0023249 "SCTID:445479007 UMLS:C0311221 GARD:0010967" CL:0000937 "Cell committed to natural killer cell lineage that has the phenotype CD122-positive, CD34-positive, and CD117-positive. This cell type lacks expression of natural killer receptor proteins." GO:1903707 "Any process that stops, prevents or reduces the frequency, rate or extent of hemopoiesis." MONDO:0033091 "DOID:0080258 UMLS:CN317536 OMIM:617571" +MONDO:0700085 "A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number." NCBITaxon:41196 "GC_ID:1" CL:0002064 "A secretory cell found in pancreatic acini that secretes digestive enzymes and mucins. This cell is a typical zymogenic cell, have a basal nucleus and basophilic cytoplasm consisting of regular arrays of granular endoplasmic reticulum with mitochondria and dense secretory granules." "CALOHA:TS-0737 BTO:0000028 FMA:63032" -MONDO:0009767 "Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." "GARD:0000105 OMIM:257800 ICD10:E70.3 SCTID:17827007 ICD9:759.89 Orphanet:2719" +MONDO:0009767 "Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." "ICD10CM:E70.3 GARD:0000105 OMIM:257800 SCTID:17827007 ICD9:759.89 Orphanet:2719" MONDO:0012192 "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis." "OMIM:609069 UMLS:C1836780 MESH:C563796 Orphanet:65288" MONDO:0007973 "OMIM:156190 UMLS:C1835028 MESH:C563591" GO:0040012 "Any process that modulates the frequency, rate or extent of locomotion of a cell or organism." MONDO:0002819 MONDO:0016163 "Orphanet:208508 UMLS:CN229031" -MONDO:0013851 "UMLS:C3808553 Orphanet:314399 UMLS:CN203751 OMIM:614675 ICD10:D61.0" +MONDO:0013851 "UMLS:C3808553 ICD10CM:D61.0 Orphanet:314399 UMLS:CN203751 OMIM:614675" MONDO:0004358 "A carcinoma of the larynx that arises from the subglottic area." "UMLS:C1299239 DOID:7764 SCTID:372104008 NCIT:C5972" http://identifiers.org/hgnc/7577 MONDO:0008072 "GARD:0000863 OMIM:161950" NBO:0000170 "\"Behavior related with the ability of an organism's ability to store, retain, and recall information and experiences.\" [NBO:GVG]" http://identifiers.org/hgnc/23246 -MONDO:0016295 "A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." "NCIT:C61257 ICD10:E75.4 OMIMPS:256730 SCTID:42012007 UMLS:C0027877 DOID:14503 Orphanet:79262 GARD:0010739 Orphanet:216" +MONDO:0016295 "A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." "NCIT:C61257 ICD10CM:E75.4 OMIMPS:256730 SCTID:42012007 UMLS:C0027877 DOID:14503 Orphanet:79262 GARD:0010739 Orphanet:216" MONDO:0006775 CHEBI:27177 "A proteinogenic amino acid derivative resulting from reaction of L-tyrosine at the amino group or the carboxy group, or from the replacement of any hydrogen of L-tyrosine by a heteroatom." NCBITaxon:133423 "GC_ID:1" @@ -6996,27 +6990,27 @@ MONDO:0014894 "Any Meier-Gorlin syndrome in which the cause of the disease is a MONDO:0020746 "OMIM:618469" MONDO:0012653 "UMLS:C1969784 OMIM:611308 Orphanet:91495" ENVO:21001215 "A radiation process during which electromagnetic waves or their quanta are emitted at wavelengths between 380 nm and 760 nm." -MONDO:0010203 "Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias." "UMLS:C1848439 Orphanet:3080 OMIM:277990 MESH:C537448 ICD10:Q87.0" +MONDO:0010203 "Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias." "UMLS:C1848439 Orphanet:3080 ICD10CM:Q87.0 OMIM:277990 MESH:C537448" NCBITaxon:33743 "GC_ID:1" MONDO:0005577 GO:0015267 "Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules." HP:0001881 "An abnormality of leukocytes." "UMLS:C0152009 SNOMEDCT_US:134199001 SNOMEDCT_US:24827003" NCBITaxon:464095 "GC_ID:1" -MONDO:0009154 "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene." "ICD10:E03.1 OMIM:225250 Orphanet:90673 DOID:0070125 MESH:C567123 UMLS:C2673630 Orphanet:95712 Orphanet:95713 Orphanet:95720" +MONDO:0009154 "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene." "OMIM:225250 Orphanet:90673 DOID:0070125 MESH:C567123 UMLS:C2673630 Orphanet:95712 Orphanet:95713 Orphanet:95720" MONDO:0011455 "OMIM:604382 MESH:C565781 UMLS:C1858419" -MONDO:0000991 "OBSOLETE. A bundle branch block in which the activation of the left ventricle is delayed." "UMLS:C0155702 ICD10:I44.60 SCTID:63467002 SCTID:4973001 ICD9:426.2 DOID:10272" +MONDO:0000991 "OBSOLETE. A bundle branch block in which the activation of the left ventricle is delayed." "UMLS:C0155702 SCTID:63467002 SCTID:4973001 ICD9:426.2 DOID:10272" MONDO:0004532 "A malignant neoplasm involving the auditory system" "DOID:833" http://identifiers.org/hgnc/25640 MONDO:0004352 "An ependymoma of the brain occurring in adults." "DOID:7750 UMLS:C1332186 NCIT:C9372" MONDO:0045059 "DOID:5675" -MONDO:0008425 "Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." "GARD:0009850 ICD10:Q79.2 SCTID:716230005 MESH:C537329 Orphanet:3164 UMLS:C1866958 OMIM:182210" +MONDO:0008425 "Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." "ICD10CM:Q79.2 GARD:0009850 SCTID:716230005 MESH:C537329 Orphanet:3164 UMLS:C1866958 OMIM:182210" MONDO:0004113 MONDO:0006776 PATO:0001544 "A physical quality inhering in a bearer by virtue of the bearer's ability of being turned, bowed, or twisted without breaking." http://identifiers.org/hgnc/23247 NCBITaxon:41197 "GC_ID:1" -MONDO:0019125 "Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement." "MESH:D011081 Orphanet:728 MedDRA:10038304 DOID:2556 EFO:1001148 ICD9:733.99 SCTID:72275000 UMLS:C0032453 ICD10:M94.1 NCIT:C157268 GARD:0007417" -MONDO:0000087 "A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction." "Orphanet:35981 UMLS:C0266464 MESH:D065706 SCTID:4945003 ICD10:Q04.3 NCIT:C116936 GARD:0012271" +MONDO:0019125 "Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement." "MESH:D011081 Orphanet:728 MedDRA:10038304 DOID:2556 EFO:1001148 ICD9:733.99 SCTID:72275000 UMLS:C0032453 NCIT:C157268 GARD:0007417 ICD10CM:M94.1" +MONDO:0000087 "A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction." "ICD10CM:Q04.3 Orphanet:35981 UMLS:C0266464 MESH:D065706 SCTID:4945003 NCIT:C116936 GARD:0012271" http://identifiers.org/hgnc/7578 MONDO:0020747 "OMIM:210250" MONDO:0010257 "UMLS:C1846279 OMIM:300147" @@ -7026,37 +7020,37 @@ http://identifiers.org/hgnc/8773 UBERON:0001646 MONDO:0007975 "OMIM:156220 UMLS:C1835026 MESH:C563590" HP:0009124 "An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes." "UMLS:C4021524" -MONDO:0004111 "A hematologic malignancy that is resistant to treatment." "UMLS:C1335724 DOID:712 NCIT:C27357" -MONDO:0018533 "Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated." "UMLS:CN242153 ICD10:C22.1 ICD10:C22.7 Orphanet:424970 ICD10:C22.0" -MONDO:0001998 "Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect." "SCTID:87764000 ICD10:H47.14 DOID:14555 MESH:D009901 ICD9:377.04 EFO:1001330 UMLS:C0152112" +MONDO:0004111 "A hematologic malignancy that is resistant to treatment." "UMLS:C1335724 NCIT:C27357 DOID:712" +MONDO:0018533 "Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated." "UMLS:CN242153 Orphanet:424970" +MONDO:0001998 "Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect." "SCTID:87764000 DOID:14555 MESH:D009901 ICD9:377.04 EFO:1001330 UMLS:C0152112" GO:1901569 "The chemical reactions and pathways resulting in the breakdown of fatty acid derivative." -MONDO:0014203 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene." "OMIM:615482 DOID:0110615 ICD10:Q34.8 UMLS:C3809641" +MONDO:0014203 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene." "OMIM:615482 DOID:0110615 UMLS:C3809641" FOODON:03420279 -MONDO:0005020 "A non-neoplastic or neoplastic disorder that affects the small or large intestine." "DOID:5295 ICD9:564.4 SCTID:85919009 SCTID:53619000 ICD9:569.9 ICD9:569.49 ICD9:570-579.99 MESH:D007410 ICD9:520-579.99 MESH:D005767 ICD9:575 ICD9:569.4 ICD10:K63.9 ICD9:564 ICD9:569.89 NCIT:C26801 ICD9:569 ICD9:560-569.99" +MONDO:0005020 "A non-neoplastic or neoplastic disorder that affects the small or large intestine." "DOID:5295 ICD9:564.4 SCTID:85919009 SCTID:53619000 ICD9:569.9 ICD9:569.49 ICD9:570-579.99 MESH:D007410 ICD9:520-579.99 MESH:D005767 ICD10CM:K55-K64 ICD9:575 ICD9:569.4 ICD9:564 ICD9:569.89 NCIT:C26801 ICD9:569 ICD9:560-569.99" MONDO:0024540 "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene." "OMIM:220400 Orphanet:90647 UMLS:C0022387 UMLS:CN034131 Orphanet:768" -MONDO:0017887 "Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma." "ICD10:C64 UMLS:C3272295 Orphanet:319314 NCIT:C100051" +MONDO:0017887 "Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma." "ICD10CM:C64 UMLS:C3272295 Orphanet:319314 NCIT:C100051" MONDO:0006511 MONDO:0008074 "OMIM:162020" -MONDO:0015231 "Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." "GARD:0005893 OMIMPS:601678 Orphanet:112 OMIM:601198 OMIM:613090 ICD9:255.13 ICD10:E26.8 OMIM:601678 MedDRA:10050839 UMLS:C0004775 OMIM:607364 MESH:D001477 UMLS:C0085570 NCIT:C34412 DOID:445 ICD10:E26.81 OMIM:602522 SCTID:707742001 OMIM:300971 OMIM:241200" +MONDO:0015231 "Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." "GARD:0005893 OMIMPS:601678 Orphanet:112 OMIM:601198 OMIM:613090 ICD9:255.13 OMIM:601678 MedDRA:10050839 UMLS:C0004775 OMIM:607364 MESH:D001477 UMLS:C0085570 NCIT:C34412 DOID:445 OMIM:602522 SCTID:707742001 OMIM:300971 ICD10CM:E26.8 OMIM:241200" GO:1903862 "Any process that activates or increases the frequency, rate or extent of oxidative phosphorylation." MONDO:0020748 "OMIM:618666" MONDO:0012655 "DOID:0111327 UMLS:C1969656 OMIM:611364 Orphanet:307" UBERON:0001645 http://identifiers.org/hgnc/17116 -MONDO:0007124 "Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." "Orphanet:1071 OMIM:106260 MESH:C535847 SCTID:55821006 DOID:0090119 MESH:C535289 GARD:0004805 ICD10:Q82.4 GARD:0006571" -MONDO:0009489 "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive." "OMIM:244850 SCTID:717228004 ICD10:Q82.8 Orphanet:86923 MESH:C565454" +MONDO:0007124 "Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." "Orphanet:1071 OMIM:106260 MESH:C535847 SCTID:55821006 DOID:0090119 MESH:C535289 GARD:0004805 ICD10CM:Q82.4 GARD:0006571" +MONDO:0009489 "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive." "OMIM:244850 SCTID:717228004 ICD10CM:Q82.8 Orphanet:86923 MESH:C565454" GO:0001763 "The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes." GO:0006289 "A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts)." MONDO:0010370 "An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation." "UMLS:C1802395 Orphanet:199 OMIM:300590 DOID:0080506 NCIT:C75485" MONDO:0007976 "MESH:C563589 OMIM:156230 UMLS:C1835010 GARD:0007313" CHEBI:38104 "Any organic heterocyclic compound containing at least one ring oxygen atom." MONDO:0002818 -MONDO:0001235 "A malignant neoplasm involving the vermiform appendix" "UMLS:C0496779 SCTID:363411007 ICD9:153.5 NCIT:C9333 ICD10:C18.1 DOID:11239 MESH:D001063" +MONDO:0001235 "A malignant neoplasm involving the vermiform appendix" "UMLS:C0496779 SCTID:363411007 ICD9:153.5 NCIT:C9333 DOID:11239 MESH:D001063" NCBITaxon:6258 "GC_ID:1" http://identifiers.org/hgnc/20 NCBITaxon:6259 "GC_ID:1" http://identifiers.org/hgnc/7576 -MONDO:0007018 "Inflammation of the vulva. It is characterized by pruritus and painful urination." "SCTID:63144007 MedDRA:10047780 EFO:1001239 DOID:3901 MESH:D014847 UMLS:C0042996 ICD10:N76.2" +MONDO:0007018 "Inflammation of the vulva. It is characterized by pruritus and painful urination." "SCTID:63144007 MedDRA:10047780 EFO:1001239 DOID:3901 MESH:D014847 UMLS:C0042996" MONDO:0016160 "Orphanet:2076 OMIM:300423 OMIM:300088 OMIM:300607 UMLS:CN226857" MONDO:0003427 "A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative." "DOID:5391 UMLS:C0149845 ICDO:8260/0 NCIT:C3494" MONDO:0017611 "A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland." "SCTID:127024001 UMLS:C0032019 ICD9:239.7 Orphanet:304055 NCIT:C3330" @@ -7064,7 +7058,7 @@ MONDO:0011699 "An inflammatory bowel disease that has material basis in variatio UBERON:0010272 MONDO:0004115 MONDO:0020749 "OMIM:221770" -MONDO:0010063 "A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985." "UMLS:C1849087 OMIM:271310 MESH:C535472 ICD10:G11.1 SCTID:720750004 Orphanet:3177 GARD:0001525" +MONDO:0010063 "A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985." "UMLS:C1849087 OMIM:271310 MESH:C535472 SCTID:720750004 ICD10CM:G11.1 Orphanet:3177 GARD:0001525" HP:0031983 "This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density." UBERON:0001644 MONDO:0004749 "A malignant neoplasm involving the myocardium." "UMLS:C1290402 UMLS:C0346611 DOID:9299 NCIT:C5349 NCIT:C4569 SCTID:126732009" @@ -7076,14 +7070,14 @@ MONDO:0021578 "A benign or malignant neoplasm that affects the sternum." "NCIT:C NCBITaxon:11095 "PMID:7747470 PMID:12832207 GC_ID:1" MONDO:0020741 "Orphanet:3006 UMLS:C1849508 OMIM:266100" http://identifiers.org/hgnc/23 -MONDO:0008465 "Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." "Orphanet:2439 ICD10:Q87.0 SCTID:724069009 UMLS:C1866741 OMIM:183700 GARD:0004260" +MONDO:0008465 "Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." "ICD10CM:Q87.0 Orphanet:2439 SCTID:724069009 UMLS:C1866741 OMIM:183700 GARD:0004260" MONDO:0020172 "A neoplasm (disease) that involves the skin of eyelid." "SCTID:126499002 Orphanet:98581 UMLS:CN207033" UBERON:0000442 MONDO:0003179 -MONDO:0020595 "A disease or disorder that involves the retroperitoneal space." "NCIT:C27667 SCTID:734045002" +MONDO:0020595 "A disease or disorder that involves the retroperitoneal space." "NCIT:C27667 SCTID:734045002 ICD10CM:K65-K68" MONDO:0013855 "OMIM:614680" MONDO:0100061 "A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss." -MONDO:0017786 "2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported." "SCTID:766816008 UMLS:CN203736 ICD10:Q92.3 Orphanet:313947" +MONDO:0017786 "2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported." "SCTID:766816008 UMLS:CN203736 Orphanet:313947" http://identifiers.org/hgnc/7573 CL:0010003 "An epithelial cell that is part_of a alveolus of lung." UBERON:0010273 @@ -7091,18 +7085,18 @@ FOODON:00002470 CHEBI:62488 "A molecular messenger in which the molecule is specifically involved in transmitting information between cells. Such molecules are released from the cell sending the signal, cross over the gap between cells by diffusion, and interact with specific receptors in another cell, triggering a response in that cell by activating a series of enzyme controlled reactions which lead to changes inside the cell." CHEBI:35295 MONDO:0012657 "GARD:0010687 OMIM:611376 MESH:C548078" -MONDO:0001618 "ICD10:N47.6 UMLS:C0004691 SCTID:46090001 ICD9:607.1 DOID:13031" +MONDO:0001618 "ICD10CM:N47.6 UMLS:C0004691 SCTID:46090001 ICD9:607.1 DOID:13031" NCBITaxon:29178 "GC_ID:1" -MONDO:0010523 "X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." "ICD10:L99.0* MESH:C564461 OMIM:301220 ICD10:E85.0+ SCTID:717224002 Orphanet:85453" +MONDO:0010523 "X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." "ICD10EXP:L99.0* ICD10EXP:E85.0+ MESH:C564461 OMIM:301220 SCTID:717224002 Orphanet:85453" MONDO:0010206 "Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene." "Orphanet:55654 DOID:0110705 UMLS:C3279470 Orphanet:170 OMIM:278150 MESH:C566950" -MONDO:0008315 "A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas." "OMIM:611959 MESH:D011471 UMLS:C0376358 OMIM:611928 OMIM:608658 OMIM:610321 OMIM:300147 OMIM:610997 NCIT:C3343 ICD10:C61 OMIM:614731 ICD9:185 NCIT:C7378 SCTID:399068003 OMIM:601518 DOID:10283 OMIM:611100 OMIM:609299 OMIM:609558 OMIM:611955 OMIM:611868 OMIM:608656 OMIM:603688 OMIM:602759 OMIM:300704 OMIM:611958" +MONDO:0008315 "A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas." "OMIM:611959 MESH:D011471 UMLS:C0376358 OMIM:611928 OMIM:608658 OMIM:610321 OMIM:300147 OMIM:610997 ICD10CM:C61 NCIT:C3343 OMIM:614731 ICD9:185 NCIT:C7378 SCTID:399068003 OMIM:601518 DOID:10283 OMIM:611100 OMIM:609299 OMIM:609558 OMIM:611955 OMIM:611868 OMIM:608656 OMIM:603688 OMIM:602759 OMIM:300704 OMIM:611958" GO:0015629 "The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes." CL:0000681 "A cell present in the developing CNS. Functions as both a precursor cell and as a scaffold to support neuronal migration." MONDO:0020742 "Orphanet:1317 OMIM:212540 MESH:C537965 GARD:0001060" MONDO:0005573 http://identifiers.org/hgnc/20748 http://identifiers.org/hgnc/8772 -MONDO:0014461 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene." "OMIM:616030 DOID:0090081 UMLS:C4014988 Orphanet:478 ICD10:E23.0" +MONDO:0014461 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene." "OMIM:616030 DOID:0090081 UMLS:C4014988 Orphanet:478" MONDO:0013856 "UMLS:C3553465 OMIM:614684" GO:2000844 "Any process that stops, prevents or reduces the frequency, rate or extent of testosterone secretion." GO:0019953 "A reproduction process that creates a new organism by combining the genetic material of two gametes, which may come from two organisms or from a single organism, in the case of self-fertilizing hermaphrodites, e.g. C. elegans, or self-fertilization in plants. It occurs both in eukaryotes and prokaryotes: in multicellular eukaryotic organisms, an individual is created anew; in prokaryotes, the initial cell has additional or transformed genetic material. In a process called genetic recombination, genetic material (DNA) originating from two gametes join up so that homologous sequences are aligned with each other, and this is followed by exchange of genetic information. After the new recombinant chromosome is formed, it is passed on to progeny." @@ -7114,7 +7108,7 @@ GO:0100051 "OBSOLETE. Any transcription from RNA polymerase II promoter process MONDO:0012869 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene." "UMLS:C3808184 MESH:C567346 DOID:0070052 OMIM:612337 Orphanet:36367" MONDO:0003086 "A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports." "NCIT:C6457 DOID:4678 UMLS:C1334814" GO:0050746 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids." -MONDO:0006678 "A concretion in the urinary bladder." "MESH:D001744 ICD10:N21.0 NCIT:C26707 DOID:11355 SCTID:70650003 UMLS:C0005683 MedDRA:10005001 EFO:1000839 ICD9:594.1" +MONDO:0006678 "A concretion in the urinary bladder." "MESH:D001744 NCIT:C26707 DOID:11355 SCTID:70650003 UMLS:C0005683 MedDRA:10005001 EFO:1000839 ICD9:594.1" CHEBI:73690 "An L-alpha-amino acid which is biosynthesised from erythrose 4-phosphate and phosphoenolpyruvate (i.e. phenylalanine, tyrosine, and tryptophan). A closed class." MONDO:0022932 "An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder." "Orphanet:3215 MESH:C535988 UMLS:C2931076 GARD:0001672" http://identifiers.org/hgnc/18318 @@ -7132,7 +7126,7 @@ MONDO:0018508 "OBSOLETE. Any of the forms of small intestine carcinoma that have MONDO:0006896 "Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum." "ICD9:530.11 SCTID:57643001 UMLS:C0014869 DOID:13976 MESH:D004942 EFO:1001095" UBERON:0001641 GO:0002335 "The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen." -MONDO:0007686 "Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." "OMIM:139090 SCTID:51720005 ICD10:D69.1 OMIM:187900 MESH:D055652 UMLS:CN205641 UMLS:C0272302 Orphanet:721 DOID:0111044 UMLS:C2717750 NCIT:C84741 GARD:0002562" +MONDO:0007686 "Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear." "OMIM:139090 SCTID:51720005 OMIM:187900 MESH:D055652 UMLS:CN205641 UMLS:C0272302 Orphanet:721 ICD10CM:D69.1 DOID:0111044 UMLS:C2717750 NCIT:C84741 GARD:0002562" MONDO:0100420 "Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)" "NCIT:C39712" GO:0002705 "Any process that activates or increases the frequency, rate, or extent of leukocyte mediated immunity." MONDO:0002472 "A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases." "UMLS:C0344460 ICDO:8941/3 NCIT:C4397" @@ -7143,30 +7137,30 @@ HP:0001025 "Raised, well-circumscribed areas of erythema and edema involving the NCBITaxon:1979165 GO:0007626 "The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions." CHEBI:26191 "A compound that contains two or more hydroxy groups." -MONDO:0008071 "OMIM:161900 ICD10:I15.1 MESH:C562889 SCTID:703310005 UMLS:C0403443 UMLS:C3839782 Orphanet:88659 ICD9:583.9" -MONDO:0004872 "Dilated veins in the anal canal." "ICD9:455 MESH:D006484 NCIT:C26792 ICD9:455.8 SCTID:70153002 UMLS:C0019112 DOID:9746 ICD10:K64" -MONDO:0009319 "Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." "UMLS:C0018523 OMIM:234200 SCTID:2992000 NCIT:C84988 MESH:D006211 ICD9:333.0 ICD10:G23.0 DOID:3981 Orphanet:157850 GARD:0006564" +MONDO:0008071 "OMIM:161900 MESH:C562889 SCTID:703310005 UMLS:C0403443 UMLS:C3839782 Orphanet:88659 ICD9:583.9 ICD10CM:I15.1" +MONDO:0004872 "Dilated veins in the anal canal." "ICD9:455 MESH:D006484 NCIT:C26792 ICD9:455.8 SCTID:70153002 UMLS:C0019112 DOID:9746" +MONDO:0009319 "Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." "UMLS:C0018523 OMIM:234200 SCTID:2992000 NCIT:C84988 MESH:D006211 ICD9:333.0 DOID:3981 Orphanet:157850 GARD:0006564" UBERON:0010276 -MONDO:0014498 "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene." "ICD10:L50.2 OMIM:616115 Orphanet:576349 UMLS:C4015276 Orphanet:47045 DOID:0090065" +MONDO:0014498 "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene." "OMIM:616115 Orphanet:576349 UMLS:C4015276 Orphanet:47045 DOID:0090065" http://identifiers.org/hgnc/7572 MONDO:0060670 "UMLS:CN895594 OMIM:617921" ECTO:9000016 "An exposure to hydrogen chloride." FOODON:00002471 -MONDO:0007339 "An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." "Orphanet:1997 ICD10:Q87.8 MESH:C536188 DOID:0080344 SCTID:717911008 OMIMPS:119580 UMLS:C1861536 GARD:0002071" +MONDO:0007339 "An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." "ICD10CM:Q87.8 Orphanet:1997 MESH:C536188 DOID:0080344 SCTID:717911008 OMIMPS:119580 UMLS:C1861536 OMIM:119580 GARD:0002071" CHEBI:35296 GO:1903789 "Any process that modulates the frequency, rate or extent of amino acid transmembrane transport." -MONDO:0006797 "Retinopathy due to hypertension." "MedDRA:10020839 MESH:D058437 EFO:1000977 ICD10:H35.03 ICD9:362.11 DOID:11561 NCIT:C3514 UMLS:C0152132 SCTID:6962006" -MONDO:0020745 "OMIM:115000" +MONDO:0006797 "Retinopathy due to hypertension." "MedDRA:10020839 MESH:D058437 EFO:1000977 ICD9:362.11 DOID:11561 NCIT:C3514 UMLS:C0152132 SCTID:6962006" +MONDO:0020745 "OMIM:115000 UMLS:C5542154" UBERON:0001640 MONDO:0018300 GO:0031343 "Any process that activates or increases the frequency, rate or extent of cell killing." -MONDO:0018566 "Orphanet:435804 UMLS:CN237575 ICD10:M89.8" +MONDO:0018566 "Orphanet:435804 ICD10CM:M89.8 UMLS:CN237575" MONDO:0016581 "Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon)." "GARD:0008189 Orphanet:2445 SCTID:218728005 UMLS:C1857586 OMIM:217095 ICD9:747.11" -MONDO:0015807 "Orphanet:178493 SCTID:312898002 ICD10:H35.3 UMLS:C0730271 EFO:0009201" +MONDO:0015807 "Orphanet:178493 ICD10CM:H35.3 SCTID:312898002 UMLS:C0730271 EFO:0009201" MONDO:0008068 "OMIM:161600 MESH:C536002 GARD:0008543" MONDO:0007703 -MONDO:0011708 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." "OMIM:606705 UMLS:C1847626 ICD10:H90.3 DOID:0110563 MESH:C564675" -MONDO:0017102 "UMLS:CN202460 Orphanet:269008 ICD10:Q04.8 OMIM:607341" +MONDO:0011708 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." "OMIM:606705 UMLS:C1847626 DOID:0110563 MESH:C564675" +MONDO:0017102 "UMLS:CN202460 Orphanet:269008 ICD10CM:Q04.8 OMIM:607341" MONDO:0043606 "OBSOLETE. A traumatic break in an area of bone that has been weakened by another disease process." "NCIT:C3047 MESH:D005598 SCTID:268029009" MONDO:0002868 "A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component." "ICDO:8161/3 NCIT:C4130 DOID:4075 UMLS:C0334286" http://identifiers.org/hgnc/16175 @@ -7174,50 +7168,50 @@ MONDO:0010250 "OMIM:300114" MONDO:0017368 "Orphanet:290836 UMLS:CN203041" UBERON:0010011 MONDO:0024573 "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions." "GARD:0007229 DOID:0080326 SCTID:471885006 OMIMPS:192600 MESH:D024741 Orphanet:155 NCIT:C84773" -MONDO:0011730 "Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." "ICD9:282.3 SCTID:237983002 GARD:0006476 DOID:0111261 UMLS:C2936826 ICD10:E88.8 MESH:C538191 Orphanet:24 OMIM:606812" -MONDO:0010284 "X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28." "SCTID:719017003 ICD10:Q87.8 Orphanet:85276 OMIM:300261 DOID:0050764 UMLS:C1846057 MESH:C564551" +MONDO:0011730 "Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." "ICD10CM:E88.8 ICD9:282.3 SCTID:237983002 GARD:0006476 DOID:0111261 UMLS:C2936826 MESH:C538191 Orphanet:24 OMIM:606812" +MONDO:0010284 "X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28." "SCTID:719017003 Orphanet:85276 OMIM:300261 ICD10CM:Q87.8 DOID:0050764 UMLS:C1846057 MESH:C564551" HP:0012115 "Inflammation of the liver." "MSH:D006505 UMLS:C0019158 SNOMEDCT_US:128241005" MONDO:0013582 "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene." "Orphanet:1052 DOID:0080142 OMIM:614114 UMLS:C3279843" -MONDO:0018521 "A squamous cell carcinoma that involves the pancreas." "ICD10:C25.2 UMLS:C2675993 Orphanet:424039 ICD10:C25.8 ICD10:C25.0 ICD10:C25.7 DOID:0080323 ICD10:C25.1 UMLS:CN237524" -MONDO:0018567 "Orphanet:435819 UMLS:CN237576 OMIM:604484 ICD10:G60.0" +MONDO:0018521 "A squamous cell carcinoma that involves the pancreas." "UMLS:C2675993 Orphanet:424039 DOID:0080323 UMLS:CN237524" +MONDO:0018567 "Orphanet:435819 UMLS:CN237576 OMIM:604484 ICD10CM:G60.0" GO:0019725 "Any process involved in the maintenance of an internal steady state at the level of the cell." MONDO:0020750 "OMIM:618193" MONDO:0007704 "OMIM:140600" MONDO:0008069 "MESH:C563530 OMIM:161700 UMLS:C1834340 Orphanet:506" http://identifiers.org/hgnc/6109 -MONDO:0010247 "A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." "Orphanet:139399 UMLS:CN199389 Orphanet:43 UMLS:CN036464 GARD:0009412 Orphanet:139396 OMIM:300100 ICD10:E71.3" +MONDO:0010247 "A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." "ICD10CM:E71.3 Orphanet:139399 UMLS:CN199389 Orphanet:43 UMLS:CN036464 GARD:0009412 Orphanet:139396 OMIM:300100" MONDO:0016757 "Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation." "Orphanet:252212 DOID:6707 SCTID:404040002 UMLS:C0334616 ICDO:9561/3 NCIT:C4335 ICD9:171.9" http://identifiers.org/hgnc/11019 MONDO:0024483 "Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003" "NCIT:C27877" -MONDO:0010617 "This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus." "SCTID:722459008 OMIM:307500 ICD10:Q87.8 Orphanet:2234 MESH:C564406" +MONDO:0010617 "This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus." "SCTID:722459008 OMIM:307500 Orphanet:2234 MESH:C564406 ICD10CM:Q87.8" MONDO:0003362 "An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells." "NCIT:C4484 DOID:5273 HP:0006755 UMLS:C0346067 SCTID:254771006" MONDO:0017103 "Orphanet:269190 UMLS:CN227080" http://identifiers.org/hgnc/18571 MONDO:0017369 "UMLS:CN203042 Orphanet:290839" GO:0070009 "Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine)." HP:0001878 "A type of anemia caused by premature destruction of red blood cells (hemolysis)." "MSH:D000743 UMLS:C0002878 SNOMEDCT_US:61261009" -MONDO:0018126 "A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli." "Orphanet:352596 SCTID:763349002 ICD10:G40.3 OMIM:615338" -MONDO:0017765 "An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport." "UMLS:CN227207 Orphanet:309848 ICD10:E83.4" +MONDO:0018126 "A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli." "Orphanet:352596 ICD10CM:G40.3 SCTID:763349002 OMIM:615338" +MONDO:0017765 "An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport." "ICD10CM:E83.4 UMLS:CN227207 Orphanet:309848" MONDO:0020751 "OMIM:618182" http://identifiers.org/hgnc/9701 http://identifiers.org/hgnc/9967 MONDO:0014659 "Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene." "UMLS:CN232144 GARD:0013113 OMIM:616483" -MONDO:0019406 "Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait." "Orphanet:85168 ICD10:Q87.5" +MONDO:0019406 "Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait." "Orphanet:85168 ICD10CM:Q87.5" CHEBI:38338 "A member of the class of pyrimidines that is pyrimidine substituted by at least one amino group and its derivatives." -MONDO:0010029 "A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning)." "MESH:D012857 NCIT:C87121 ICD9:759.89 SCTID:24614000 Orphanet:101063 ICD10:Q89.3 GARD:0004883 Orphanet:450 ICD9:759.3 HP:0001696 OMIM:270100 DOID:758" +MONDO:0010029 "A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning)." "MESH:D012857 Orphanet:101063 ICD10CM:Q89.3 DOID:758 ICD9:759.3 ICD9:759.89 Orphanet:450 SCTID:24614000 HP:0001696 GARD:0004883 NCIT:C87121 OMIM:270100" GO:1905209 "Any process that activates or increases the frequency, rate or extent of cardiocyte differentiation." MONDO:0006617 "Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)" "MESH:D012872 EFO:1000774 UMLS:C0037275 DOID:2731" -MONDO:0007705 "UMLS:C0700299 MedDRA:10002058 HP:0005511 DOID:0111363 GARD:0010718 MESH:C563030 ICD10:D58.2 OMIM:140700 Orphanet:178330" +MONDO:0007705 "UMLS:C0700299 MedDRA:10002058 HP:0005511 ICD10CM:D58.2 DOID:0111363 GARD:0010718 MESH:C563030 OMIM:140700 Orphanet:178330" MONDO:0005004 "A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid." "ICDO:8310/3 UMLS:C0206681 EFO:0000348 DOID:4468 MESH:D018262 NCIT:C4072 NCIT:C3766 NCIT:C36815" NCBITaxon:172148 "GC_ID:1" NCBITaxon:27872 "GC_ID:1" -MONDO:0011217 "Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol." "Orphanet:35107 ICD9:272.8 OMIM:602398 SCTID:709490002 ICD10:Q87.8 MESH:C566555 UMLS:C1865596 GARD:0010283" +MONDO:0011217 "Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol." "Orphanet:35107 ICD9:272.8 OMIM:602398 ICD10CM:Q87.8 SCTID:709490002 MESH:C566555 UMLS:C1865596 GARD:0010283" MONDO:0001259 "Ischemic necrosis of the pituitary gland." "NCIT:C27117 SCTID:95830009 DOID:1130 UMLS:C0342405 ICD9:253.8" MONDO:0010252 "OMIM:300123 Orphanet:631 Orphanet:231692 Orphanet:67045" http://identifiers.org/hgnc/21957 GO:0007498 "The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue." GO:0051171 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds." -MONDO:0019765 "ICD9:759.89 Orphanet:93942 ICD10:Q76.7 SCTID:44518003" +MONDO:0019765 "ICD10CM:Q76.7 ICD9:759.89 Orphanet:93942 SCTID:44518003" GO:0004672 "Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP." GO:0019538 "The chemical reactions and pathways involving a protein. Includes protein modification." NCBITaxon:555406 "PMID:23020233 GC_ID:1" @@ -7227,9 +7221,9 @@ MONDO:0020752 PATO:0002092 "A morphology quality inhering in a neoplastic cell by virtue of the bearer's exhibiting breakdown of cell-cell interaction maintaining tissue architecture, proliferative dysregulation and bizarre modification to nucleus size and shape." MONDO:0044797 "A benign melanocytic nevus characterized by the presence of desmoplastic stroma." "UMLS:C0346098 NCIT:C4497" http://identifiers.org/hgnc/6107 -MONDO:0007706 "GARD:0008524 ICD10:D18.0 Orphanet:2124 OMIM:140850 UMLS:C0472694 SCTID:234140000 MESH:C538144" +MONDO:0007706 "GARD:0008524 Orphanet:2124 OMIM:140850 UMLS:C0472694 SCTID:234140000 MESH:C538144 ICD10CM:D18.0" http://identifiers.org/hgnc/3616 -MONDO:0017101 "OMIM:607341 Orphanet:269001 ICD10:Q04.8" +MONDO:0017101 "OMIM:607341 ICD10CM:Q04.8 Orphanet:269001" GO:0007631 "Behavior associated with the intake of food." MONDO:0044906 "A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma." "NCIT:C39858" NCBITaxon:27871 "GC_ID:1" @@ -7251,7 +7245,7 @@ UBERON:0011213 PATO:0001992 "An organismal quality inhering in a bearer by virtue of the bearer's consisting cells." FOODON:03420148 "The parts of a plant that are not fruit or seed."@en GO:0000785 "The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome." -MONDO:0013058 "Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive." "Orphanet:85136 OMIM:612951 UMLS:C2751843 MESH:C567845 GARD:0013199 SCTID:720825005 ICD10:E75.2" +MONDO:0013058 "Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive." "ICD10CM:E75.2 Orphanet:85136 OMIM:612951 UMLS:C2751843 MESH:C567845 GARD:0013199 SCTID:720825005" MONDO:0006501 MONDO:0008064 "OMIM:161480 MESH:C562753 UMLS:C4082198" MONDO:0008904 "MESH:C537977 Orphanet:140 UMLS:C1859354 GARD:0001071 OMIM:211990" @@ -7260,7 +7254,7 @@ http://identifiers.org/hgnc/7569 UBERON:0015178 http://identifiers.org/hgnc/9966 UBERON:0012418 -MONDO:0018563 "Orphanet:435623 ICD10:Q72.8 SCTID:66345008" +MONDO:0018563 "Orphanet:435623 ICD10CM:Q72.8 SCTID:66345008" GO:0010894 "Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus." MONDO:0060677 "OMIM:617930 UMLS:CN244562" MONDO:0007966 "UMLS:C0220633 Orphanet:39044" @@ -7269,30 +7263,30 @@ http://identifiers.org/hgnc/8768 MONDO:0032729 "OMIM:618402" CL:0000723 "A stem cell that can give rise to cell types of the body other than those of the germ-line." "CALOHA:TS-2086 FMA:63368" UBERON:0015179 -MONDO:0000390 "A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision." "OMIM:608161 UMLS:C0339510 Orphanet:99000 OMIMPS:153840 ICD10:H35.5 OMIM:153840 NCIT:C118788 OMIM:616152 OMIM:616151 OMIM:153700 MESH:D057826 SCTID:90036004 Orphanet:1243 DOID:0050661" -MONDO:0017365 "Orphanet:2907 ICD10:Q82.8" -MONDO:0016342 "Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." "OMIMPS:107970 OMIM:602086 OMIM:611528 OMIM:600996 OMIM:609040 OMIM:607450 OMIM:610193 OMIM:604401 Orphanet:217656 UMLS:C4274968 ICD10:I42.8 OMIM:615616 UMLS:CN226907 OMIM:107970 OMIM:602087 OMIM:604400 SCTID:715865008 OMIM:610476" +MONDO:0000390 "A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision." "OMIM:608161 UMLS:C0339510 Orphanet:99000 OMIMPS:153840 OMIM:153840 NCIT:C118788 OMIM:616152 OMIM:616151 OMIM:153700 MESH:D057826 SCTID:90036004 Orphanet:1243 DOID:0050661" +MONDO:0017365 "Orphanet:2907 ICD10CM:Q82.8" +MONDO:0016342 "Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms." "OMIMPS:107970 OMIM:602086 OMIM:611528 OMIM:600996 OMIM:609040 OMIM:607450 OMIM:610193 OMIM:604401 Orphanet:217656 UMLS:C4274968 OMIM:615616 UMLS:CN226907 OMIM:107970 OMIM:602087 OMIM:604400 SCTID:715865008 OMIM:610476 ICD10CM:I42.8" MONDO:0015801 "UMLS:CN200394 Orphanet:178396" MONDO:0008065 "UMLS:C1834370 OMIM:161500" MONDO:0003990 "An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported." "DOID:6776 NCIT:C40395 UMLS:C1518167" NCBITaxon:29171 "GC_ID:1" -MONDO:0018060 "Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia)." "OMIM:202400 ICD10:D68.2 OMIM:616004 Orphanet:335 GARD:0002320" +MONDO:0018060 "Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia)." "OMIM:202400 ICD10CM:D68.2 OMIM:616004 Orphanet:335 GARD:0002320" MONDO:0009002 "OMIM:216820 Orphanet:194 UMLS:C4011974" GO:0044428 "OBSOLETE. Any constituent part of the nucleus, a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated." MONDO:0010253 "OMIM:300125" http://identifiers.org/hgnc/4816 HP:0100261 "An abnormality of the structure or form of the tendons, also often called sinews." "UMLS:C4021026" -MONDO:0004694 "Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases." "MESH:D020065 ICD9:417.8 GARD:0013384 DOID:900 ICD10:K76.81 SCTID:371067004 UMLS:C0600452 EFO:1001346 ICD9:573.5" -MONDO:0004431 "Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." "DOID:801 ICD9:719.18 UMLS:C0158159 SCTID:81808003 MESH:D006395 ICD9:719.10 ICD9:719.1 EFO:1001344 ICD10:M25.0" +MONDO:0004694 "Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases." "MESH:D020065 ICD9:417.8 ICD10CM:K76.81 GARD:0013384 DOID:900 SCTID:371067004 UMLS:C0600452 EFO:1001346 ICD9:573.5" +MONDO:0004431 "Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." "DOID:801 ICD9:719.18 UMLS:C0158159 SCTID:81808003 MESH:D006395 ICD9:719.10 ICD9:719.1 EFO:1001344" MONDO:0003445 "An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary." "DOID:5438 NCIT:C5857 UMLS:C1331534" -MONDO:0011614 "3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death." "UMLS:C2751532 GARD:0002712 SCTID:725286002 ICD10:E71.3 MESH:C567784 Orphanet:35701 OMIM:605911" +MONDO:0011614 "3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death." "UMLS:C2751532 GARD:0002712 SCTID:725286002 MESH:C567784 Orphanet:35701 OMIM:605911 ICD10CM:E71.3" MONDO:0012008 "Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans." "MESH:C564261 UMLS:C1842307 GARD:0010367 OMIM:608290 SCTID:719429003 Orphanet:140936" http://identifiers.org/hgnc/18576 http://identifiers.org/hgnc/3619 MONDO:0007701 "MESH:C564202 Orphanet:871 OMIM:140400 DOID:0111075 ICD9:426.6 SCTID:698251009 GARD:0004879" UBERON:0011215 CL:1000417 "A myoepithelial cell that is part of the sweat gland." "FMA:67801" -MONDO:0017858 "An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" "SCTID:93451002 MESH:D004915 OMIM:133180 ICD10:C94.0 ICD9:205.80 UMLS:C0023440 ICDO:9840/3 GARD:0009620 NCIT:C8923 ICD9:207.00 Orphanet:318 GARD:0009750" +MONDO:0017858 "An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" "SCTID:93451002 MESH:D004915 OMIM:133180 ICD10CM:C94.0 ICD9:205.80 UMLS:C0023440 ICDO:9840/3 GARD:0009620 NCIT:C8923 ICD9:207.00 Orphanet:318 GARD:0009750" UBERON:0011216 CL:0002454 "Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell is a conventional dendritic cell that is CD11b-positive, CD4-negative, CD8_alpha-negative and is CD205-positive." MONDO:0003337 "Acute encephalitis that is characterized by bleeding." "UMLS:C1332149 NCIT:C35796 DOID:5224" @@ -7300,12 +7294,12 @@ MONDO:0008066 "UMLS:C1834369 OMIM:161530" MONDO:0002450 "Focal benign glandular hyperplasia in the prostate gland." "ICD9:600.20 MESH:D011470 NCIT:C4795 UMLS:C0520477 SCTID:266569009 SCTID:21173002 DOID:2883" MONDO:0006503 http://identifiers.org/hgnc/4817 -MONDO:0018560 "ICD10:Q64.7 UMLS:CN242188 SCTID:253907008 Orphanet:435372" +MONDO:0018560 "ICD10CM:Q64.7 UMLS:CN242188 SCTID:253907008 Orphanet:435372" MONDO:0008902 "UMLS:C1859355 MESH:C537976 OMIM:211965 GARD:0010134" UBERON:0012416 GO:0010890 "Any process that increases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system." GO:0090257 "Any process that modulates the frequency, rate or extent of a muscle system process, a multicellular organismal process carried out by any of the organs or tissues in a muscle system." -MONDO:0018105 "Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." "ICD9:250.80 OMIM:598500 UMLS:CN184630 DOID:10632 GARD:0007898 UMLS:C0043207 NCIT:C35133 ICD10:E13.8 Orphanet:3463 OMIM:604928 MESH:D014929 OMIM:222300 SCTID:70694009" +MONDO:0018105 "Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)." "ICD9:250.80 OMIM:598500 UMLS:CN184630 ICD10CM:E13.8 DOID:10632 GARD:0007898 UMLS:C0043207 NCIT:C35133 Orphanet:3463 OMIM:604928 MESH:D014929 OMIM:222300 SCTID:70694009" MONDO:0001072 "A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation." "DOID:10590 ICD9:642.41 ICD9:642.44 ICD9:642.43 ICD9:642.40 ICD9:642.42 SCTID:41114007" MONDO:0008067 "UMLS:C2750548 GARD:0007163 Orphanet:150 OMIM:161550" MONDO:0007968 "OMIM:155770" @@ -7313,97 +7307,97 @@ MONDO:0005305 MONDO:0011453 "MESH:C565783 OMIM:604380 UMLS:C1858422" MONDO:0013850 http://identifiers.org/hgnc/9964 -MONDO:0019760 "OMIM:217100 ICD10:Q79.8 UMLS:C1857578 Orphanet:93937" -MONDO:0004891 "A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)" "MESH:D006956 ICD9:367.0 DOID:9834 ICD10:H52.0 SCTID:38101003 UMLS:C0020490" +MONDO:0019760 "OMIM:217100 ICD10CM:Q79.8 UMLS:C1857578 Orphanet:93937" +MONDO:0004891 "A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)" "ICD10CM:H52.0 MESH:D006956 ICD9:367.0 DOID:9834 SCTID:38101003 UMLS:C0020490" MONDO:0015143 "OBSOLETE. Rare movement disorder." "Orphanet:102003" -MONDO:0010785 "Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." "NCIT:C131859 GARD:0004003 MESH:C536246 Orphanet:225 UMLS:C0342289 SCTID:237619009 ICD10:E13.8 OMIM:520000 UMLS:C4330695 ICD9:250.80" +MONDO:0010785 "Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." "OMIM:520000 UMLS:C0342289 GARD:0004003 SCTID:237619009 UMLS:C4330695 ICD9:250.80 NCIT:C131859 MESH:C536246 ICD10CM:E13.8 Orphanet:225" MONDO:0044257 "OBSOLETE. Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported." "OMIM:247420" MONDO:0010255 "OMIM:300136 UMLS:C1848042" GO:0008484 "Catalysis of the reaction: RSO-R' + H2O = RSOOH + R'H. This reaction is the hydrolysis of a sulfuric ester bond, an ester formed from sulfuric acid, O=SO(OH)2." UBERON:0005339 -MONDO:0003689 "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies." "GARD:0006167 ICD9:282.9 ICD10:D58.9 NCIT:C34379 MESH:D000745 DOID:589 SCTID:42601008 ICD9:282" +MONDO:0003689 "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies." "GARD:0006167 ICD9:282.9 NCIT:C34379 MESH:D000745 DOID:589 SCTID:42601008 ICD9:282" MONDO:0008909 "GARD:0009840 OMIM:212067 MESH:C562844 UMLS:C0349655" http://identifiers.org/hgnc/11278 http://identifiers.org/hgnc/10914 MONDO:0032726 "Orphanet:565624 DOID:0111475 OMIM:618397" -MONDO:0017361 "An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects." "NCIT:C34992 ICD10:P35.0 UMLS:C0035921 Orphanet:290 ICD9:771.0 GARD:0004744 MESH:D012410 SCTID:1857005 MedDRA:10010618 EFO:0007218" +MONDO:0017361 "An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects." "NCIT:C34992 UMLS:C0035921 Orphanet:290 ICD9:771.0 GARD:0004744 MESH:D012410 ICD10CM:P35.0 SCTID:1857005 MedDRA:10010618 EFO:0007218" ECTO:9000049 "An exposure to carbon dioxide." -MONDO:0013740 "Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated." "OMIM:614416 UMLS:C3280729 ICD10:Q87.5 Orphanet:293925" +MONDO:0013740 "Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated." "ICD10CM:Q87.5 OMIM:614416 UMLS:C3280729 Orphanet:293925" HP:0000135 "A decreased functionality of the gonad." "MSH:D007006 SNOMEDCT_US:48130008 UMLS:C0020619" -MONDO:0007098 "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." "SCTID:703220002 Orphanet:100008 ICD9:437.8 DOID:0070027 OMIM:105150 ICD10:E85.4+ ICD10:I68.0* ICD9:277.39 Orphanet:85458" -MONDO:0008060 "Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails." "MESH:C562907 UMLS:C3279974 UMLS:C0406443 DOID:0080079 SCTID:238719003 ICD9:703.8 DOID:0080088 GARD:0010363 ICD10:Q84.6 OMIM:161050 ICD10:L60.3 Orphanet:79153 Orphanet:280654" +MONDO:0007098 "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." "SCTID:703220002 ICD10EXP:I68.0* ICD10EXP:E85.4+ Orphanet:100008 ICD9:437.8 DOID:0070027 OMIM:105150 ICD9:277.39 Orphanet:85458" +MONDO:0008060 "Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails." "MESH:C562907 UMLS:C3279974 UMLS:C0406443 ICD10CM:L60.3 DOID:0080079 SCTID:238719003 ICD9:703.8 ICD10CM:Q84.6 DOID:0080088 GARD:0010363 OMIM:161050 Orphanet:79153 Orphanet:280654" UBERON:0006536 GO:0140096 "Catalytic activity that acts to modify a protein." MONDO:0034021 "Orphanet:536471" -MONDO:0005850 "Virus diseases caused by the poxviridae." "ICD9:051.9 ICD9:051.1 DOID:8729 EFO:0007370 SCTID:27240009 ICD10:B08.04 MESH:D011213 UMLS:C0026143" -MONDO:0001044 "A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed." "MESH:D004933 DOID:10485 ICD9:750.3 HP:0002032 ICD10:Q39.0 NCIT:C87072 SCTID:26179002 GARD:0006381" -MONDO:0020236 "Partial or complete displacement of the crystalline lens from its normal position in the eye." "Orphanet:98653 NCIT:C125484 HP:0001083 ICD10:Q12.1" +MONDO:0005850 "Virus diseases caused by the poxviridae." "ICD9:051.9 ICD9:051.1 DOID:8729 EFO:0007370 SCTID:27240009 MESH:D011213 UMLS:C0026143" +MONDO:0001044 "A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed." "MESH:D004933 DOID:10485 ICD9:750.3 HP:0002032 NCIT:C87072 SCTID:26179002 GARD:0006381" +MONDO:0020236 "Partial or complete displacement of the crystalline lens from its normal position in the eye." "Orphanet:98653 NCIT:C125484 ICD10CM:Q12.1 HP:0001083" UBERON:0009030 HP:0000587 "Abnormality of the optic nerve." "UMLS:C0029131" -MONDO:0001160 "A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment." "ICD10:F44.9 DOID:10935 NCIT:C92197 ICD9:300.9 ICD9:300.15 ICD10:F48.9 MESH:D004213" +MONDO:0001160 "A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment." "DOID:10935 NCIT:C92197 ICD9:300.15 ICD9:300.9 MESH:D004213" GO:0032230 "Any process that activates, maintains or increases the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA)." -MONDO:0009312 "Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk)." "UMLS:C2931279 ICD10:E88.1 SCTID:724176001 MESH:C565529 OMIM:233805 GARD:0004280 Orphanet:1979 GARD:0012604" +MONDO:0009312 "Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk)." "UMLS:C2931279 SCTID:724176001 MESH:C565529 OMIM:233805 GARD:0004280 ICD10CM:E88.1 Orphanet:1979 GARD:0012604" http://identifiers.org/hgnc/11277 MONDO:0032725 "OMIM:618396" -MONDO:0007984 "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait." "DOID:0111513 Orphanet:2504 OMIM:156510 GARD:0003568 UMLS:CN201864 ICD10:Q77.8" +MONDO:0007984 "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait." "DOID:0111513 Orphanet:2504 OMIM:156510 GARD:0003568 ICD10CM:Q77.8 UMLS:CN201864" MONDO:0034022 "OMIM:616471 Orphanet:536516 Orphanet:610 UMLS:C4225313" UBERON:0006535 HP:0002113 "UMLS:C0235896" GO:0072329 "The chemical reactions and pathways resulting in the breakdown of monocarboxylic acids, any organic acid containing one carboxyl (-COOH) group." -MONDO:0011128 "Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." "ICD10:Q68.8 GARD:0009909 OMIM:616266 UMLS:C1834523 DOID:0111599 Orphanet:1147" -MONDO:0017229 "Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly." "ICD10:Q93.5 Orphanet:280325 UMLS:CN202714" +MONDO:0011128 "Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." "GARD:0009909 ICD10CM:Q68.8 OMIM:616266 UMLS:C1834523 DOID:0111599 Orphanet:1147" +MONDO:0017229 "Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly." "Orphanet:280325 UMLS:CN202714 ICD10CM:Q93.5" MONDO:0006699 "Presence or formation of gallstones in the common bile duct." "MedDRA:10049891 UMLS:C0701818 EFO:1000865 DOID:11755 MESH:D042883" MONDO:0043218 "A disorder of the nervous system related to a vascular etiology." "UMLS:C3898144 NCIT:C117007" MONDO:0018639 "Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported." "Orphanet:444941" MONDO:0024386 "A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen." "UMLS:C1707407 ONCOTREE:CCLC NCIT:C4451" MONDO:0021375 "A neoplasm (disease) that involves the duodenum." "SCTID:126833009 NCIT:C2995" UBERON:0007732 -MONDO:0008865 "Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." "UMLS:C1859486 SCTID:312927001 MESH:C535440 DOID:0050664 GARD:0010050 Orphanet:41751 OMIM:210370 ICD10:H15.5" -MONDO:0016390 "A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects." "UMLS:C1832648 GARD:0002910 OMIM:307700 SCTID:725036000 ICD10:E20.8 DOID:0111387 OMIM:146200 OMIM:615361 Orphanet:2238 MESH:C537156 OMIM:601198 OMIMPS:146200" -MONDO:0007070 "Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy." "ICD9:272.8 NCIT:C84540 DOID:3928 MedDRA:10001294 Wikipedia:Adiposis_dolorosa Orphanet:36397 OMIM:103200 SCTID:71404003 ICD10:E88.2 GARD:0005750 UMLS:C0001529 EFO:1000667 MESH:D000274" +MONDO:0008865 "Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." "UMLS:C1859486 SCTID:312927001 MESH:C535440 ICD10CM:H15.5 DOID:0050664 GARD:0010050 Orphanet:41751 OMIM:210370" +MONDO:0016390 "A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects." "UMLS:C1832648 GARD:0002910 OMIM:307700 SCTID:725036000 ICD10CM:E20.8 DOID:0111387 OMIM:146200 OMIM:615361 Orphanet:2238 MESH:C537156 OMIM:601198 OMIMPS:146200" +MONDO:0007070 "Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy." "ICD9:272.8 NCIT:C84540 DOID:3928 MedDRA:10001294 Wikipedia:Adiposis_dolorosa Orphanet:36397 OMIM:103200 SCTID:71404003 ICD10CM:E88.2 GARD:0005750 UMLS:C0001529 EFO:1000667 MESH:D000274" http://identifiers.org/hgnc/11276 http://identifiers.org/hgnc/10912 CHR:9606-chrY -MONDO:0008387 "Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition." "SCTID:723499000 OMIM:180550 MESH:C535684 UMLS:C1867155 ICD10:D31.1 DOID:0111548 Orphanet:91481 GARD:0009696" +MONDO:0008387 "Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition." "ICD10CM:D31.1 SCTID:723499000 MESH:C535684 OMIM:180550 UMLS:C1867155 DOID:0111548 Orphanet:91481 GARD:0009696" MONDO:0030329 "OMIM:619431" -MONDO:0012170 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene." "MESH:C563815 OMIM:609006 DOID:0110494 ICD10:H90.3" +MONDO:0012170 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene." "MESH:C563815 OMIM:609006 DOID:0110494" http://identifiers.org/hgnc/29347 MONDO:0024354 "Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating." "NCIT:C35360 SCTID:7678002 UMLS:C0276253" MONDO:0032728 "DOID:0111559 OMIM:618400" MONDO:0006355 "An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." "EFO:1000458 UMLS:C1335353 NCIT:C5933" -MONDO:0008699 "Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed." "Orphanet:929 OMIM:200450 UMLS:C1860212 SCTID:718573009 ICD10:Q39.5 GARD:0000456 MESH:C536010 DOID:0050796" -MONDO:0016608 "A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome)." "HP:0001355 ICD10:Q04.5 SCTID:9740002 MedDRA:10050183 OMIM:248000 OMIM:155350 Orphanet:2477 MESH:D058627 ICD9:742.4" +MONDO:0008699 "Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed." "Orphanet:929 OMIM:200450 UMLS:C1860212 SCTID:718573009 MESH:C536010 GARD:0000456 DOID:0050796 ICD10CM:Q39.5" +MONDO:0016608 "A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome)." "HP:0001355 SCTID:9740002 MedDRA:10050183 OMIM:248000 OMIM:155350 Orphanet:2477 MESH:D058627 ICD9:742.4" http://identifiers.org/hgnc/14872 UBERON:0006534 http://identifiers.org/hgnc/1477 UBERON:0015172 MONDO:0033926 "Orphanet:525738" -MONDO:0011301 "Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." "MESH:C548075 UMLS:C2932715 DOID:0080222 GARD:0010680 ICD10:E20.1 OMIM:603233 Orphanet:94089" -MONDO:0014231 "Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene." "Orphanet:391411 ICD10:G20 OMIM:615528 UMLS:C3809811 DOID:0060891" +MONDO:0011301 "Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance." "MESH:C548075 ICD10CM:E20.1 UMLS:C2932715 DOID:0080222 GARD:0010680 OMIM:603233 Orphanet:94089" +MONDO:0014231 "Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene." "Orphanet:391411 OMIM:615528 UMLS:C3809811 DOID:0060891" MONDO:0008906 "OMIM:212060" -MONDO:0017108 "Orphanet:269206 ICD10:Q04.3" +MONDO:0017108 "Orphanet:269206 ICD10CM:Q04.3" NCBITaxon:2704949 "GC_ID:1" MONDO:0001893 "A melanoma (disease) that involves the spinal cord." "UMLS:C1336045 DOID:14151 NCIT:C5158" MONDO:0004361 "An ependymoma of the spinal cord occurring in adults." "NCIT:C27399 UMLS:C1332215 DOID:7788" -MONDO:0015284 "Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." "Orphanet:1350 ICD10:Q87.2 MESH:C536784 GARD:0009847 UMLS:C2931323 SCTID:721010003" -MONDO:0017045 "Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar." "SCTID:724090001 UMLS:CN202391 Orphanet:2676 GARD:0003959 ICD10:E31.8" +MONDO:0015284 "Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." "Orphanet:1350 MESH:C536784 GARD:0009847 UMLS:C2931323 SCTID:721010003 ICD10CM:Q87.2" +MONDO:0017045 "Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar." "ICD10CM:E31.8 SCTID:724090001 UMLS:CN202391 Orphanet:2676 GARD:0003959" http://identifiers.org/hgnc/13672 UBERON:0007997 -MONDO:0000342 "An disease or disorder caused by infection with O'nyong-nyong virus." "DOID:0050516 ICD10:A92.1 UMLS:C0276286 MEDGEN:547234 SCTID:85579005" -MONDO:0008150 "Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." "DOID:0111532 MESH:C536050 OMIM:166250 Orphanet:2645 GARD:0004142 SCTID:254144002 ICD10:Q87.1" +MONDO:0000342 "An disease or disorder caused by infection with O'nyong-nyong virus." "DOID:0050516 UMLS:C0276286 ICD10CM:A92.1 MEDGEN:547234 SCTID:85579005" +MONDO:0008150 "Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth." "DOID:0111532 MESH:C536050 OMIM:166250 ICD10CM:Q87.1 Orphanet:2645 GARD:0004142 SCTID:254144002" MONDO:0006306 "A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor." "EFO:1000382 SCTID:444604002 ONCOTREE:MDLC ICD9:174.8 NCIT:C5160 UMLS:C0334384" -MONDO:0005116 "A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system." "UMLS:CN204440 ICD10:M14.8* SCTID:41545003 ICD10:K90.8+ UMLS:C0023788 EFO:0000775 ICD9:040.2 MESH:D008061 MedDRA:10047931 Orphanet:3452 NCIT:C85228 GARD:0007889 ICD10:K90.81 UMLS:C2930851 DOID:8476" +MONDO:0005116 "A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system." "UMLS:CN204440 ICD10CM:K90.81 SCTID:41545003 ICD10EXP:M14.8* UMLS:C0023788 EFO:0000775 ICD10EXP:K90.8+ ICD9:040.2 MESH:D008061 MedDRA:10047931 Orphanet:3452 NCIT:C85228 GARD:0007889 UMLS:C2930851 DOID:8476" CHR:9606-chrX -MONDO:0006664 "Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart." "ICD10:Q21.1 NCIT:C84473 OMIM:614475 UMLS:C0018817 EFO:1000825 OMIM:614089 OMIM:611363 MedDRA:10068864 Orphanet:1478 MESH:D006344 MedDRA:10003664 OMIM:613087 OMIM:108800 MedDRA:10019308 DOID:1882 SCTID:253366007 OMIM:612794 OMIMPS:108800 OMIM:607941 OMIM:614433" -MONDO:0007875 "Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." "ICD10:Q74.8 GARD:0006860 ICD9:759.89 DOID:14764 UMLS:C0175778 SCTID:63387002 MESH:C580241 OMIM:150250 Orphanet:503" +MONDO:0006664 "Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart." "NCIT:C84473 OMIM:614475 UMLS:C0018817 EFO:1000825 OMIM:614089 OMIM:611363 MedDRA:10068864 Orphanet:1478 MESH:D006344 MedDRA:10003664 OMIM:613087 OMIM:108800 MedDRA:10019308 DOID:1882 SCTID:253366007 OMIM:612794 OMIMPS:108800 OMIM:607941 OMIM:614433" +MONDO:0007875 "Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." "GARD:0006860 ICD9:759.89 ICD10CM:Q74.8 DOID:14764 UMLS:C0175778 SCTID:63387002 MESH:C580241 OMIM:150250 Orphanet:503" FOODON:03411297 "A vertebrate animal is any species of organism within the subphylum Vertebrata (chordates with backbones). Vertebrates represent the overwhelming majority of the phylum Chordata, with currently about 69,276 species described."@en MONDO:0044347 "A disease or disorder that involves the erythrocyte." "ICD9:289.9 UMLS:C0221016 SCTID:38292009" http://identifiers.org/hgnc/1476 http://identifiers.org/hgnc/10910 UBERON:0006799 MONDO:0009004 -MONDO:0008905 "GARD:0001077 Orphanet:457088 UMLS:C1859353 OMIM:212050 ICD10:D84.8" -MONDO:0017109 "Orphanet:269209 ICD10:Q04.3" +MONDO:0008905 "GARD:0001077 ICD10CM:D84.8 Orphanet:457088 UMLS:C1859353 OMIM:212050" +MONDO:0017109 "Orphanet:269209 ICD10CM:Q04.3" HP:0001999 "An abnormal morphology (form) of the face or its components." "UMLS:C4072832 SNOMEDCT_US:248200007 SNOMEDCT_US:32003007 UMLS:C1385263 SNOMEDCT_US:398302004 UMLS:C0424503 UMLS:C4072833 SNOMEDCT_US:398206004 UMLS:C0266617" CHEBI:48210 CHEBI:22563 "A monoatomic or polyatomic species having one or more elementary charges of the electron." @@ -7416,14 +7410,14 @@ MONDO:0032721 "OMIM:618392" HP:0012591 "An abnormality in the concentration of electrolytes in the urine." "UMLS:C4022833" HsapDv:0000130 "Adult stage that refers to an adult who is over 36 and under 37." GO:0044459 "OBSOLETE. Any constituent part of the plasma membrane, the membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins." -MONDO:0010794 "Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." "DOID:0111273 UMLS:C1328349 MedDRA:10062940 OMIM:551500 GARD:0000262 ICD10:G31.8 Orphanet:644 MESH:C537396" +MONDO:0010794 "Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." "DOID:0111273 UMLS:C1328349 MedDRA:10062940 ICD10CM:G31.8 OMIM:551500 GARD:0000262 Orphanet:644 MESH:C537396" NCBITaxon:2508209 "GC_ID:1" MONDO:0017106 "Orphanet:269200 HP:0006951" MONDO:0003180 "A adenoid cystic carcinoma that involves the skin of body." "UMLS:C0346017 NCIT:C4471 SCTID:254711000 DOID:4871" CL:0002634 "An epithelial cell of the anal column." UBERON:0009035 HP:0004324 "Abnormally increased body weight." "UMLS:C0043094 SNOMEDCT_US:8943002 MSH:D015430 SNOMEDCT_US:262286000 SNOMEDCT_US:161831008" -MONDO:0015605 "Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma." "SCTID:763530000 MESH:C538025 Orphanet:1642 ICD10:Q93.5" +MONDO:0015605 "Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma." "SCTID:763530000 ICD10CM:Q93.5 MESH:C538025 Orphanet:1642" MONDO:0002195 "A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma." "DOID:2072 NCIT:C40283 UMLS:C1520097" http://identifiers.org/hgnc/2410 MONDO:0013598 "Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance." "GARD:0010238 ICD9:756.89 Orphanet:275534 OMIM:614160 SCTID:699185005 HGNC:4223 MESH:C536106 DOID:0111072" @@ -7437,28 +7431,28 @@ MONDO:0007709 "Orphanet:97562 OMIM:141200 DOID:0111365 MESH:C562476" MONDO:0007056 "A condition that is characterized by degeneration of the distal phalanges." "MESH:D030981 OMIM:102400 SCTID:27201004 Orphanet:955 NCIT:C35545" MONDO:0019766 "UMLS:CN206701 Orphanet:93945" NCBITaxon:3760 "GC_ID:1" -MONDO:0009261 "GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age." "OMIM:230600 DOID:0080501 Orphanet:79256 ICD10:E75.1 Orphanet:354 GARD:0010126 SCTID:18756002" -MONDO:0011778 "Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism." "SCTID:719688002 ICD10:Q77.3 OMIM:607131 MESH:C564621 Orphanet:166024" -MONDO:0001217 "Conjunctivitis that is characterized by formation of a pseudomembrane." "GARD:0008446 NCIT:C35196 ICD10:H10.22 SCTID:72115001 DOID:11190 UMLS:C0155144 ICD9:372.04" -MONDO:0017107 "Orphanet:269203 ICD10:Q04.3" +MONDO:0009261 "GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age." "OMIM:230600 DOID:0080501 Orphanet:79256 ICD10CM:E75.1 Orphanet:354 GARD:0010126 SCTID:18756002" +MONDO:0011778 "Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism." "SCTID:719688002 OMIM:607131 ICD10CM:Q77.3 MESH:C564621 Orphanet:166024" +MONDO:0001217 "Conjunctivitis that is characterized by formation of a pseudomembrane." "GARD:0008446 NCIT:C35196 SCTID:72115001 DOID:11190 UMLS:C0155144 ICD9:372.04" +MONDO:0017107 "Orphanet:269203 ICD10CM:Q04.3" CHEBI:33249 "Any organic substituent group, regardless of functional type, having one free valence at a carbon atom." -MONDO:0016837 "16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." "SCTID:719578005 UMLS:C4304595 ICD10:Q92.3 GARD:0013392 Orphanet:261243 UMLS:CN202173" +MONDO:0016837 "16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies." "SCTID:719578005 UMLS:C4304595 GARD:0013392 Orphanet:261243 UMLS:CN202173" MONDO:0021851 "A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun." "MESH:C537056 UMLS:C2931408 GARD:0000615" MONDO:0020983 "Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION)." "GARD:0010468 MESH:D006341 UMLS:C0018813" -MONDO:0009787 "3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria." "Orphanet:67047 OMIM:258501 DOID:0110004 UMLS:C0574084 ICD10:E71.1 SCTID:297232009 MESH:C535311 GARD:0005663" +MONDO:0009787 "3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria." "Orphanet:67047 OMIM:258501 DOID:0110004 UMLS:C0574084 SCTID:297232009 MESH:C535311 GARD:0005663 ICD10CM:E71.1" GO:0045669 "Any process that activates or increases the frequency, rate or extent of osteoblast differentiation." ECTO:9002021 "An exposure to astringent." -MONDO:0018058 "Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking." "GARD:0005233 UMLS:C1261567 ICD10:Q32.1 NCIT:C35376 SCTID:3987009 Orphanet:3346 MESH:C536975" +MONDO:0018058 "Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking." "GARD:0005233 UMLS:C1261567 ICD10CM:Q32.1 NCIT:C35376 SCTID:3987009 Orphanet:3346 MESH:C536975" MONDO:0018568 UBERON:0005337 MONDO:0009617 "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene." "UMLS:C1855081 MESH:C565384 OMIM:251200 Orphanet:52183 DOID:0070285 Orphanet:2512" MONDO:0032724 "DOID:0112200 OMIM:618395" GO:0002694 "Any process that modulates the frequency, rate, or extent of leukocyte activation." -MONDO:0019761 "Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms." "ICD10:Q32.1 Orphanet:93938 UMLS:CN206696" +MONDO:0019761 "Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms." "Orphanet:93938 ICD10CM:Q32.1 UMLS:CN206696" MONDO:0003220 "A carcinoma that arises from epithelial cells of the gall bladder" "EFO:1001956 UMLS:C0235782 NCIT:C3844 DOID:4948 SCTID:372140005" MONDO:0010111 "Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive." "OMIM:273400 MESH:C535637 GARD:0002381 Orphanet:2723 UMLS:C2930960 UMLS:CN074199 SCTID:239028001" UBERON:0004139 -MONDO:0011068 "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene." "OMIM:601388 ICD10:E10 DOID:0110751 UMLS:C1832392 MESH:C563326" +MONDO:0011068 "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene." "OMIM:601388 DOID:0110751 UMLS:C1832392 MESH:C563326" UBERON:0006538 MONDO:0008555 "An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability." "OMIM:188000 NCIT:C129035 Orphanet:268322 Orphanet:168629 GARD:0005191 MESH:C536519" http://identifiers.org/hgnc/8507 @@ -7467,13 +7461,13 @@ GO:0044463 "OBSOLETE. Any constituent part of a cell projection, a prolongation MONDO:0017104 "Orphanet:269194" UBERON:0009032 NCBITaxon:5061 "GC_ID:1 PMID:21892240" -MONDO:0007555 "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering." "OMIM:131950 MESH:C535962 SCTID:398071000 DOID:0060736 GARD:0002148 ICD9:757.39 Orphanet:79401 ICD10:Q81.0" +MONDO:0007555 "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering." "OMIM:131950 MESH:C535962 SCTID:398071000 DOID:0060736 GARD:0002148 ICD9:757.39 Orphanet:79401 ICD10CM:Q81.0" MONDO:0019769 "UMLS:CN206704 Orphanet:93950" UBERON:0005338 http://identifiers.org/hgnc/2678 MONDO:0000794 "OBSOLETE. A allergy involving a beta-lactam." "DOID:0060519" http://identifiers.org/hgnc/9706 -MONDO:0018303 "Orphanet:376724 ICD10:G24.1" +MONDO:0018303 "ICD10CM:G24.1 Orphanet:376724" UBERON:0007735 http://identifiers.org/hgnc/11013 MONDO:0030326 "OMIM:619425" @@ -7486,41 +7480,41 @@ UBERON:0006537 FOODON:03412409 "*Coelenterata* is an obsolete term encompassing the animal phyla *Cnidaria* (coral animals, true jellies, sea anemones, sea pens, and their allies) and *Ctenophora* (comb jellies). [https://en.wikipedia.org/wiki/Coelenterata]"@en MONDO:0003557 "A meningioma that affects the sheath of the optic nerve." "DOID:5632 SCTID:254978007 UMLS:C0346328 NCIT:C4538 ICD9:237.9" MONDO:0016446 "An instance of cutis laxa that is acquired during the lifetime of the individual." "SCTID:19726003 Orphanet:228285 UMLS:C0406549" -MONDO:0009008 "MESH:C535849 GARD:0004166 GARD:0002612 DOID:0111591 Orphanet:1338 OMIM:217085 ICD10:Q87.8 UMLS:C2931046" +MONDO:0009008 "MESH:C535849 GARD:0004166 GARD:0002612 DOID:0111591 Orphanet:1338 ICD10CM:Q87.8 OMIM:217085 UMLS:C2931046" MONDO:0012680 "Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene." "Orphanet:655 MESH:C566930 OMIM:611498 UMLS:C1969092 DOID:0111116" -MONDO:0014803 "ICD10:E88.8 OMIM:616859 Orphanet:401866 UMLS:C4225178" +MONDO:0014803 "OMIM:616859 Orphanet:401866 ICD10CM:E88.8 UMLS:C4225178" UBERON:0005331 -MONDO:0014398 "Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver." "DOID:0111465 EFO:0009032 Orphanet:420733 SCTID:763211004 OMIM:615918 ICD10:E88.8 UMLS:C4014668" -MONDO:0009362 "Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." "GARD:0002427 OMIM:236640 Orphanet:3035 ICD10:Q87.8 SCTID:716198008 UMLS:C1856052 MESH:C535406" +MONDO:0014398 "Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver." "DOID:0111465 EFO:0009032 Orphanet:420733 SCTID:763211004 OMIM:615918 UMLS:C4014668 ICD10CM:E88.8" +MONDO:0009362 "Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." "GARD:0002427 OMIM:236640 Orphanet:3035 ICD10CM:Q87.8 SCTID:716198008 UMLS:C1856052 MESH:C535406" UBERON:0005597 -MONDO:0008043 "This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss." "UMLS:C1834579 MESH:C563549 ICD10:G11.1 GARD:0003873 OMIM:159800 Orphanet:2589" +MONDO:0008043 "This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss." "UMLS:C1834579 MESH:C563549 GARD:0003873 OMIM:159800 Orphanet:2589 ICD10CM:G11.1" UBERON:0004399 CHR:9606-chr1q44 -MONDO:0014804 "ICD10:D64.0 SCTID:720465002 OMIM:616860 DOID:0080343 Orphanet:255132" +MONDO:0014804 "ICD10CM:D64.0 SCTID:720465002 OMIM:616860 DOID:0080343 Orphanet:255132" MONDO:0001626 "DOID:13060 ICD9:365.65 UMLS:C0339594 SCTID:68241007" UBERON:0004133 UBERON:0005598 MONDO:0004477 "A ganglioneuroblastoma arising from the adrenal gland." "NCIT:C7646 DOID:8140 UMLS:C1332176" -MONDO:0004298 "A disease involving the stomach." "DOID:76 UMLS:C0038354 ICD9:537.89 ICD9:537.9 NCIT:C26886 SCTID:29384001 MESH:D013272" -MONDO:0008486 "The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth." "GARD:0005004 OMIM:184510 MESH:C537487 UMLS:C1866650 Orphanet:3184 ICD10:L72.2" +MONDO:0004298 "A disease involving the stomach." "DOID:76 UMLS:C0038354 ICD9:537.89 ICD9:537.9 NCIT:C26886 ICD10CM:K20-K31 SCTID:29384001 MESH:D013272" +MONDO:0008486 "The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth." "GARD:0005004 OMIM:184510 MESH:C537487 UMLS:C1866650 Orphanet:3184 ICD10CM:L72.2" MONDO:0024227 "A miliaria that is characterized by pustules resulting from inflammation and bacterial infection." "SCTID:26988005 DOID:0070319" NCBITaxon:6264 "GC_ID:1" MONDO:0003188 UBERON:0005332 -MONDO:0013607 "ICD10:D72.8 OMIM:614172 Orphanet:228423 GARD:0010934 UMLS:C3280030" +MONDO:0013607 "OMIM:614172 ICD10CM:D72.8 Orphanet:228423 GARD:0010934 UMLS:C3280030" MONDO:0004326 "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." "UMLS:C1336037 DOID:7678 NCIT:C6841" GO:0031333 "Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly." MONDO:0030323 "OMIM:619422" MONDO:0000427 MONDO:0002823 -MONDO:0017601 "Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs." "Orphanet:300888 ICD10:C83.3" +MONDO:0017601 "Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs." "ICD10CM:C83.3 Orphanet:300888" UBERON:0004134 GO:0002658 "Any process that modulates the frequency, rate, or extent of peripheral tolerance induction." -MONDO:0016535 "A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency)." "GARD:0000076 OMIM:224900 OMIM:300291 HP:0007607 OMIM:305100 SCTID:7731005 SCTID:239007005 UMLS:C0406702 OMIM:129490 NCIT:C84562 OMIM:612132 DOID:14793 Orphanet:238468 OMIM:614941 ICD10:Q82.4 OMIM:614940" -MONDO:0007002 "A disease involving the trochlear nerve." "MESH:D020432 NCIT:C78395 EFO:1001220 ICD10:H49.1 DOID:13864 MedDRA:10074765 ICD9:378.53" -MONDO:0013533 "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated." "ICD10:E78.4 UMLS:C3151466 GARD:0012864 OMIM:614025 SCTID:720940008 Orphanet:140905" +MONDO:0016535 "A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency)." "GARD:0000076 OMIM:224900 OMIM:300291 HP:0007607 OMIM:305100 SCTID:7731005 SCTID:239007005 UMLS:C0406702 OMIM:129490 NCIT:C84562 OMIM:612132 DOID:14793 Orphanet:238468 OMIM:614941 OMIM:614940" +MONDO:0007002 "A disease involving the trochlear nerve." "MESH:D020432 NCIT:C78395 EFO:1001220 DOID:13864 MedDRA:10074765 ICD9:378.53" +MONDO:0013533 "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated." "UMLS:C3151466 GARD:0012864 OMIM:614025 SCTID:720940008 Orphanet:140905 ICD10CM:E78.4" UBERON:0005599 -MONDO:0001623 "UMLS:C0155199 DOID:13038 ICD9:374.23 ICD10:H02.21 HP:0030004" +MONDO:0001623 "UMLS:C0155199 DOID:13038 ICD9:374.23 ICD10CM:H02.21 HP:0030004" MONDO:0021937 UBERON:0005333 MONDO:0002739 "An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor." "DOID:3698 UMLS:C0861856 NCIT:C5846" @@ -7531,29 +7525,29 @@ MONDO:0004559 "A variant of malignant peripheral nerve sheath tumor characterize UBERON:0004135 CHEBI:33286 "An agrochemical is a substance that is used in agriculture or horticulture." MONDO:0013556 "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene." "Orphanet:79430 OMIM:614073 Orphanet:231500 UMLS:C3484357 DOID:0060542" -MONDO:0004770 "The anterior displacement of the eye within the orbit, giving a bulging appearance." "ICD10:H05.20 NCIT:C87114 SCTID:18265008 UMLS:C0015300 HP:0000520 ICD9:376.30 MESH:D005094 NCIT:C118763 DOID:9370" +MONDO:0004770 "The anterior displacement of the eye within the orbit, giving a bulging appearance." "NCIT:C87114 SCTID:18265008 UMLS:C0015300 HP:0000520 ICD9:376.30 MESH:D005094 NCIT:C118763 DOID:9370" CHEBI:39317 "Any chemical substance that inhibits the life-cycle of an organism." -MONDO:0017363 "Idiopathic chronic eosinophilic pneumonia (ICEP) is a very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss)." "ICD10:J82 Orphanet:2902 GARD:0001130 MESH:C535590" -MONDO:0014561 "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene." "UMLS:C4225393 SCTID:764860006 EFO:0009014 DOID:0110003 ICD10:E71.1 Orphanet:445038 OMIM:616271" +MONDO:0017363 "Idiopathic chronic eosinophilic pneumonia (ICEP) is a very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss)." "Orphanet:2902 ICD10CM:J82 GARD:0001130 MESH:C535590" +MONDO:0014561 "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene." "UMLS:C4225393 SCTID:764860006 EFO:0009014 ICD10CM:E71.1 DOID:0110003 Orphanet:445038 OMIM:616271" MONDO:0024431 "SCTID:80006005" GO:0046321 "Any process that activates or increases the frequency, rate or extent of fatty acid oxidation." MONDO:0007980 "OMIM:156300" -MONDO:0001622 "SCTID:21783006 DOID:13037 ICD10:H02.22 ICD9:374.22 UMLS:C0155198" -MONDO:0004573 "A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)" "DOID:8454 SCTID:20307000 ICD9:266.0 OMIM:615026 ICD10:E53.0" +MONDO:0001622 "SCTID:21783006 DOID:13037 ICD9:374.22 ICD10CM:H02.22 UMLS:C0155198" +MONDO:0004573 "A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)" "DOID:8454 SCTID:20307000 ICD9:266.0 OMIM:615026" UBERON:0005334 -MONDO:0010622 "A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." "Orphanet:281090 OMIM:308100 GARD:0007904 OMIM:300001 ICD10:Q80.1 DOID:1700 MedDRA:10048063 SCTID:3944006 Orphanet:461 NCIT:C84779 UMLS:C0079588" +MONDO:0010622 "A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." "Orphanet:281090 OMIM:308100 GARD:0007904 OMIM:300001 DOID:1700 MedDRA:10048063 SCTID:3944006 Orphanet:461 NCIT:C84779 UMLS:C0079588" MONDO:0021298 "A in situ carcinoma that involves the oropharynx." "NCIT:C4590 SCTID:92668003 UMLS:C0347099" -MONDO:0009053 "ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity." "ICD9:371.89 Orphanet:2962 ICD10:Q82.8 DOID:0070132 ICD10:Q87.8 Orphanet:35664 OMIM:219150 SCTID:59252009" +MONDO:0009053 "ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity." "ICD9:371.89 Orphanet:2962 DOID:0070132 Orphanet:35664 OMIM:219150 SCTID:59252009 ICD10CM:Q87.8" UBERON:0004136 MONDO:0002821 "UMLS:C0334327 DOID:3964" http://identifiers.org/hgnc/29594 http://identifiers.org/hgnc/28396 MONDO:0700123 "Any BAFopathy in which the cause of the disease is a mutation in the SMARCC1 gene." MONDO:0600023 "Idiopathic form of inflammatory myopathy." "MESH:D009220 NCIT:C116796 Orphanet:98482 SCTID:702380008 OMIM:160750 UMLS:C0751356" -MONDO:0005219 "Fibrosis associated with cyst formation in the breast parenchyma." "NCIT:C3039 ICD10:N60 DOID:10354 MESH:D005348 UMLS:C0016034 ICD10:N60.1 EFO:0003014 ICD9:610.1" +MONDO:0005219 "Fibrosis associated with cyst formation in the breast parenchyma." "NCIT:C3039 DOID:10354 MESH:D005348 UMLS:C0016034 EFO:0003014 ICD9:610.1" MONDO:0000978 "A rare benign adipose tissue neoplasm of the extrahepatic bile duct." "UMLS:C1333509 DOID:10209 NCIT:C5854" GO:0120036 "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon." -MONDO:0001676 "A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly." "MESH:D046351 OMIM:177000 ICD10:E80.0 NCIT:C84698 OMIM:300752 Orphanet:79278 SCTID:51022005 OMIMPS:177000 DOID:13270" +MONDO:0001676 "A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly." "MESH:D046351 OMIM:177000 NCIT:C84698 OMIM:300752 Orphanet:79278 SCTID:51022005 OMIMPS:177000 DOID:13270" UBERON:0001636 MONDO:0000689 MONDO:0000423 @@ -7568,7 +7562,7 @@ MONDO:0023238 "GARD:0000208 UMLS:C2931343 MESH:C536818" HP:0040195 "An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean." "UMLS:C0424688 SNOMEDCT_US:271611007" MONDO:0020738 "Orphanet:2505 UMLS:C0473586 OMIM:156610" UBERON:0006532 -MONDO:0001886 "DOID:14131 ICD10:N81.11 SCTID:423633003 UMLS:C1456248 ICD9:618.01" +MONDO:0001886 "DOID:14131 ICD10CM:N81.11 SCTID:423633003 UMLS:C1456248 ICD9:618.01" UBERON:0009292 UBERON:0004395 HP:0100035 "Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound." "UMLS:C0751901 MSH:D020323" @@ -7576,14 +7570,14 @@ MONDO:0700129 "Translocation Down syndrome in which the extra (partial or total) MONDO:0013718 "A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14." "DOID:0111121 OMIM:614377 Orphanet:655 UMLS:C3280612" UBERON:0001635 UBERON:0005594 -MONDO:0007478 "An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones." "OMIM:127000 Orphanet:93325 UMLS:C0265291 Orphanet:2333 NCIT:C130993 UMLS:CN031291 ICD10:Q87.1 GARD:0000083" +MONDO:0007478 "An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones." "OMIM:127000 Orphanet:93325 UMLS:C0265291 Orphanet:2333 NCIT:C130993 UMLS:CN031291 ICD10CM:Q87.1 GARD:0000083" MONDO:0000422 NCBITaxon:715989 "GC_ID:1" NCBITaxon:6268 "GC_ID:1" CHR:9606-chr16p12.2-p11.2 MONDO:0014125 "Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene." "OMIM:615298 Orphanet:3250 UMLS:C3809104" -MONDO:0006940 "A peripheral nerve lesion that involves the radial nerve." "DOID:12170 SCTID:193137006 EFO:1001143 ICD10:G56.30 ICD10:G56.3 UMLS:C0154744 ICD9:354.3 SCTID:16644004 MedDRA:10061477 MESH:D020425" -MONDO:0000709 "An Crohn disease involving a pathogenic inflammatory response in the ileum." "CSP:1248-5305 NCIT:C35329 ICD9:558.9 UMLS:C0020877 ICD10:K52.9 DOID:0060189 SCTID:52457000 MESH:D007079 NDFRT:N0000001662 MedDRA:10021312" +MONDO:0006940 "A peripheral nerve lesion that involves the radial nerve." "DOID:12170 SCTID:193137006 EFO:1001143 UMLS:C0154744 ICD9:354.3 SCTID:16644004 MedDRA:10061477 MESH:D020425" +MONDO:0000709 "An Crohn disease involving a pathogenic inflammatory response in the ileum." "CSP:1248-5305 NCIT:C35329 ICD9:558.9 UMLS:C0020877 DOID:0060189 SCTID:52457000 MESH:D007079 NDFRT:N0000001662 MedDRA:10021312" http://identifiers.org/hgnc/12496 MONDO:0006619 "A virus-induced exanthem" "SCTID:49882001 EFO:1000776 ICD9:057.9 UMLS:C0153062 DOID:8672 ICD9:057.8" UBERON:0006531 @@ -7595,56 +7589,56 @@ MONDO:0005660 "Infections with viruses of the genus avulavirus, family paramyxov MONDO:0100452 "A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene." GO:0031331 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells." UBERON:0001638 -MONDO:0012260 "A cataract that has material basis in variation in the region 19q13." "ICD10:Q12.0 DOID:0110261 Orphanet:91492 MESH:C563728 UMLS:C1836272 OMIM:609376 Orphanet:98991" +MONDO:0012260 "A cataract that has material basis in variation in the region 19q13." "DOID:0110261 Orphanet:91492 MESH:C563728 UMLS:C1836272 OMIM:609376 Orphanet:98991" MONDO:0010052 "Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene." "DOID:0070176 OMIM:270960 GARD:0008530 MESH:C536875" http://identifiers.org/hgnc/29597 http://identifiers.org/hgnc/26837 NCBITaxon:6267 "GC_ID:1" -MONDO:0100017 "A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP)." "MESH:D010916 ICD10:L44.0 GARD:0007401 SCTID:3755001 UMLS:C0032027 NCIT:C85014 ICD9:696.4 DOID:9212" +MONDO:0100017 "A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP)." "MESH:D010916 ICD10CM:L44.0 GARD:0007401 SCTID:3755001 UMLS:C0032027 NCIT:C85014 ICD9:696.4 DOID:9212" MONDO:0054551 "OMIM:617383" http://identifiers.org/hgnc/758 -MONDO:0004884 "A neurodegenerative disease that involves the eye." "ICD10:H44.5 UMLS:C0154777 DOID:9799 ICD9:360.29 ICD9:360.2 ICD10:H44.30 ICD9:360.40 ICD9:360.20 SCTID:62585004 ICD9:360.4" +MONDO:0004884 "A neurodegenerative disease that involves the eye." "ICD10CM:H44.5 UMLS:C0154777 DOID:9799 ICD9:360.29 ICD9:360.2 ICD9:360.40 ICD9:360.20 SCTID:62585004 ICD9:360.4" http://identifiers.org/hgnc/29331 MONDO:0023757 "Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms." "UMLS:C0152110 GARD:0009417 MESH:C537458 OMIM:156220 ICD9:355.1 SCTID:85007004" UBERON:0006530 -MONDO:0009161 "A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility." "GARD:0002089 OMIM:225410 SCTID:55711009 MESH:C567527 Orphanet:1901 ICD10:Q79.6" +MONDO:0009161 "A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility." "GARD:0002089 OMIM:225410 SCTID:55711009 MESH:C567527 Orphanet:1901 ICD10CM:Q79.6" GO:0044464 "OBSOLETE. Any constituent part of a cell, the basic structural and functional unit of all organisms." MONDO:0044709 "Orphanet:502305" -MONDO:0015666 "Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." "Orphanet:1677 ICD10:Q20.8 UMLS:CN200093 SCTID:716773002" -MONDO:0016485 "A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life." "ICD10:H35.5 OMIM:276902 DOID:0110828 NCIT:C126329 OMIM:500004 Orphanet:231183 OMIM:614504 GARD:0005442 UMLS:C1568248" -MONDO:0016218 "A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants." "MedDRA:10018767 UMLS:C0018378 Orphanet:2103 NCIT:C116345 GARD:0006554 EFO:0007292 ICD10:G61.0 DOID:12842 MESH:D020275 SCTID:40956001" -MONDO:0000751 "A polyp that arises from the surface of the cervix." "DOID:0060325 SCTID:65576009 UMLS:C0347493 HP:0030159 NCIT:C2939 ICD9:219 UMLS:C0007855 ICD10:D26.9 ICD10:D26" +MONDO:0015666 "Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications." "Orphanet:1677 UMLS:CN200093 ICD10CM:Q20.8 SCTID:716773002" +MONDO:0016485 "A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life." "OMIM:276902 DOID:0110828 NCIT:C126329 OMIM:500004 Orphanet:231183 OMIM:614504 GARD:0005442 ICD10CM:H35.5 UMLS:C1568248" +MONDO:0016218 "A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants." "MedDRA:10018767 UMLS:C0018378 Orphanet:2103 NCIT:C116345 ICD10CM:G61.0 GARD:0006554 EFO:0007292 DOID:12842 MESH:D020275 SCTID:40956001" +MONDO:0000751 "A polyp that arises from the surface of the cervix." "HP:0030159 UMLS:C0347493 ICD9:219 NCIT:C2939 UMLS:C0007855 SCTID:65576009 DOID:0060325" UBERON:0001637 -MONDO:0018148 "Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported." "Orphanet:353356 ICD10:D31.2 UMLS:CN204546" +MONDO:0018148 "Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported." "Orphanet:353356 ICD10CM:D31.2 UMLS:CN204546" ENVO:09000013 "The amount of a nitrogen atom when measured in environmental material." -MONDO:0012410 "Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common." "OMIM:610099 ICD10:G71.0 SCTID:763718009 UMLS:C1864706 Orphanet:399086" +MONDO:0012410 "Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common." "OMIM:610099 SCTID:763718009 ICD10CM:G71.0 UMLS:C1864706 Orphanet:399086" UBERON:0005330 GO:0006521 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids." -MONDO:0019473 "An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease." "ICD9:202.70 ONCOTREE:EATL NCIT:C4737 GARD:0009809 Orphanet:86880 ICD10:C86.2 SCTID:277654008 UMLS:C0456889 MedDRA:10022703 MESH:D058527 ICDO:9717/3" +MONDO:0019473 "An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease." "ICD9:202.70 ONCOTREE:EATL NCIT:C4737 GARD:0009809 Orphanet:86880 SCTID:277654008 UMLS:C0456889 MedDRA:10022703 MESH:D058527 ICDO:9717/3" ECTO:9000376 "An exposure to formic acid." http://identifiers.org/hgnc/30587 MONDO:0000420 MONDO:0054550 "OMIM:608805" http://identifiers.org/hgnc/757 MONDO:0004738 "A disease that has its basis in the disruption of histidine metabolic process." "SCTID:44176004 UMLS:C0268512" -MONDO:0016410 "Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." "NCIT:C113144 GARD:0012280 Orphanet:226298 ICD10:E03.1" +MONDO:0016410 "Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." "NCIT:C113144 GARD:0012280 Orphanet:226298 ICD10CM:E03.1" MONDO:0013498 "A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33." "UMLS:C3151380 DOID:0070091 OMIM:613950" MONDO:0005910 "Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas." "EFO:0007433 DOID:3262 UMLS:C0031306 MESH:D010585" NCIT:C15290 HP:0003398 "Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers." "UMLS:C4025618 UMLS:C4020842" ECTO:9000172 "An exposure to inorganic molecular entity." -MONDO:0001479 "A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla." "EFO:1000683 NCIT:C34544 ICD10:A36.3 SCTID:18901009 DOID:12275 ICD9:032.85 UMLS:C0012555" -MONDO:0001885 "UMLS:C2711750 SCTID:441891001 ICD10:N81.12 DOID:14130 ICD9:618.02" +MONDO:0001479 "A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla." "EFO:1000683 NCIT:C34544 SCTID:18901009 DOID:12275 ICD9:032.85 ICD10CM:A36.3 UMLS:C0012555" +MONDO:0001885 "UMLS:C2711750 SCTID:441891001 DOID:14130 ICD9:618.02 ICD10CM:N81.12" MONDO:0021340 "A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation." "ICD9:695.89 SCTID:58759008 MESH:D007402 UMLS:C0021807" -MONDO:0007214 "Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits." "OMIM:112450 UMLS:C1862162 GARD:0000972 Orphanet:1278 ICD10:Q73.8 DOID:0110962 MESH:C537087" -MONDO:0008970 "Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." "DOID:0060387 NCIT:C131420 ICD10:Q78.8 Orphanet:50945 MESH:C537914 GARD:0000914 UMLS:C1859148 OMIM:215045" +MONDO:0007214 "Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits." "OMIM:112450 UMLS:C1862162 ICD10CM:Q73.8 GARD:0000972 Orphanet:1278 DOID:0110962 MESH:C537087" +MONDO:0008970 "Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality." "DOID:0060387 NCIT:C131420 Orphanet:50945 MESH:C537914 ICD10CM:Q78.8 GARD:0000914 UMLS:C1859148 OMIM:215045" GO:2000350 "Any process that activates or increases the frequency, rate or extent of signaling via the CD40 signaling pathway." UBERON:0009291 NCBITaxon:7205 "GC_ID:1" MONDO:0004178 "A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli." "NCIT:C39927 UMLS:C1515303 DOID:7302" MONDO:0007985 "OMIM:156520 UMLS:C1834968 MESH:C563585" CL:0000219 "A cell that moves by its own activities." -MONDO:0013863 "ICD10:D81.8 UMLS:C3553512 Orphanet:1572 Orphanet:445018 OMIM:614700" +MONDO:0013863 "UMLS:C3553512 Orphanet:1572 Orphanet:445018 OMIM:614700 ICD10CM:D81.8" GO:1904064 "Any process that activates or increases the frequency, rate or extent of cation transmembrane transport." http://identifiers.org/hgnc/18324 CHEBI:36735 "Compounds based on a biladiene skeleton." @@ -7656,7 +7650,7 @@ GO:0043900 "OBSOLETE. Any process that modulates the frequency, rate or extent o HP:0000528 "Absence of the globe or eyeball." "SNOMEDCT_US:204099004 MSH:D000853 SNOMEDCT_US:7183006 Fyler:4864 UMLS:C0003119" MONDO:0004558 "A thyroid gland adenoma composed of large size follicles." "UMLS:C0334329 ICDO:8334/0 DOID:8419 NCIT:C4161" UBERON:0004391 -MONDO:0011109 "Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus." "OMIM:601560 SCTID:768935003 Orphanet:166016 MESH:C563291 ICD10:Q78.8 UMLS:C1832112" +MONDO:0011109 "Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus." "OMIM:601560 SCTID:768935003 Orphanet:166016 MESH:C563291 ICD10CM:Q78.8 UMLS:C1832112" MONDO:0037748 "An elevated concentration of lipoproteins." "UMLS:C0020476 NCIT:C34709 HP:0010980" MONDO:0020734 "Orphanet:45 OMIM:612874 UMLS:C2752073" UBERON:0001897 @@ -7666,13 +7660,13 @@ http://identifiers.org/hgnc/19750 MONDO:0007720 "MESH:C563164 UMLS:C0860251 OMIM:142350" MONDO:0044786 "A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." "NCIT:C37212 ONCOTREE:SPN" MONDO:0011467 "MESH:C565771 UMLS:C1858340 OMIM:604474" -MONDO:0019562 "Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips." "SCTID:201048007 GARD:0007058 UMLS:C0036420 NCIT:C72069 ICD9:701.0 MedDRA:10039712 Orphanet:90289 MESH:D012594 DOID:8472 ICD10:L94.0" +MONDO:0019562 "Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips." "SCTID:201048007 GARD:0007058 UMLS:C0036420 NCIT:C72069 ICD9:701.0 MedDRA:10039712 Orphanet:90289 MESH:D012594 DOID:8472" PATO:0015022 "An increase in combustibility." MONDO:0003008 "An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome." "MESH:C536851 GARD:0009571 DOID:4455 SCTID:717736007 NCIT:C39789" MONDO:0011201 "MESH:C536546 DOID:0111429 GARD:0009500 OMIM:602134" http://identifiers.org/hgnc/7566 MONDO:0016150 "Orphanet:207098" -MONDO:0014397 "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene." "OMIM:615917 ICD10:G31.8 Orphanet:420728 UMLS:C4014660 DOID:0111478" +MONDO:0014397 "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene." "OMIM:615917 Orphanet:420728 ICD10CM:G31.8 UMLS:C4014660 DOID:0111478" CHEBI:33747 MONDO:0021096 "UMLS:C1335324 NCIT:C8429" MONDO:0008085 "UMLS:C1834205 MESH:C563517 OMIM:162380" @@ -7684,7 +7678,7 @@ MONDO:0010003 "GARD:0008556 SCTID:53783003 UMLS:C0268426 MESH:C535874 OMIM:2685 http://identifiers.org/hgnc/33 http://identifiers.org/hgnc/8761 HP:0002970 "A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together." "UMLS:C0544755 MSH:D056305 SNOMEDCT_US:299331007" -MONDO:0009869 "Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft." "OMIM:261800 SCTID:4602007 GARD:0004354 MESH:D010855 NCIT:C85010 ICD10:Q87.0 Orphanet:718 GARD:0004347" +MONDO:0009869 "Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft." "OMIM:261800 SCTID:4602007 GARD:0004354 MESH:D010855 NCIT:C85010 ICD10CM:Q87.0 Orphanet:718 GARD:0004347" MONDO:0060664 "UMLS:CN889218 OMIM:617913" MONDO:0011204 "OMIM:602197" GO:0045656 "Any process that stops, prevents, or reduces the frequency, rate or extent of monocyte differentiation." @@ -7693,14 +7687,14 @@ MONDO:0000664 "An agnosia that is a loss of the ability to distinguish visual sh HP:0000290 "An anomaly of the forehead." "UMLS:C4025867" MONDO:0015121 "OBSOLETE. Any of the forms of eye neoplasm that have a rare incidence." "Orphanet:101950" MONDO:0001944 "A malaria that involves infection with more than one species of Plasmodium at the same time." "ICD9:084.5 SCTID:21070001 UMLS:C0153121 DOID:14325" -MONDO:0009144 "Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction." "GARD:0006313 ICD9:746.2 MedDRA:10014075 NCIT:C84681 ICD10:Q22.5 MESH:D004437 Orphanet:1880 DOID:14289 EFO:0007244 UMLS:C0013481 OMIM:224700" +MONDO:0009144 "Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction." "GARD:0006313 ICD9:746.2 MedDRA:10014075 NCIT:C84681 MESH:D004437 Orphanet:1880 DOID:14289 EFO:0007244 UMLS:C0013481 OMIM:224700" GO:0002521 "The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue." MONDO:0005719 "Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine)." "EFO:0007224 MESH:D018352" MONDO:0002761 "A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present." "NCIT:C40190 UMLS:C1516435 DOID:3743" UBERON:0001633 GO:0002795 "Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide secretion." -MONDO:0011331 "Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations." "OMIM:603523 MESH:C535461 GARD:0010156 Orphanet:264688 ICD9:511.89 UMLS:C0340014 DOID:0060646 ICD10:I89.8 SCTID:233646003" -MONDO:0010421 "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy." "GARD:0001033 DOID:14179 OMIM:300310 OMIM:300755 UMLS:C0221026 SCTID:65880007 MESH:C537409 Orphanet:229717 NCIT:C3822 MedDRA:10060360 ICD10:D80.0 Orphanet:47" +MONDO:0011331 "Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations." "OMIM:603523 MESH:C535461 GARD:0010156 Orphanet:264688 ICD9:511.89 UMLS:C0340014 ICD10CM:I89.8 DOID:0060646 SCTID:233646003" +MONDO:0010421 "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy." "DOID:14179 GARD:0001033 ICD10CM:D80.0 OMIM:300310 OMIM:300755 UMLS:C0221026 SCTID:65880007 MESH:C537409 Orphanet:229717 NCIT:C3822 MedDRA:10060360 Orphanet:47" MONDO:0020736 "UMLS:C0432347 OMIM:191480 Orphanet:1410" OGMS:0000063 "The totality of all processes through which a given disease instance is realized."@en http://identifiers.org/hgnc/6365 @@ -7708,9 +7702,9 @@ MONDO:0002534 "A benign epithelial neoplasm that arises from the fallopian tube. UBERON:0001899 GO:0002659 "Any process that stops, prevents, or reduces the frequency, rate, or extent of peripheral tolerance induction." MONDO:0007722 "HP:0001100 OMIM:142500 MESH:C538115" -MONDO:0011274 "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." "OMIM:602849 ICD10:Q87.0 Orphanet:53271 SCTID:440350001 MESH:C537369 DOID:0060703 GARD:0007097 NCIT:C84904 UMLS:C1864436" -MONDO:0001268 "A loss of gum tissue resulting in an exposure of the roots of the teeth." "ICD9:523.21 ICD9:523.20 ICD9:523.23 ICD9:523.22 UMLS:C0017572 NCIT:C82068 UMLS:C0266916 ICD9:523.24 SCTID:59898000 DOID:1134 MESH:D005889 ICD9:523.2 ICD10:K06.0" -MONDO:0009745 "Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "MESH:C575534 OMIM:256731 ICD10:E75.4 GARD:0001223 DOID:0110728 Orphanet:228360 Orphanet:168491" +MONDO:0011274 "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." "ICD10CM:Q87.0 OMIM:602849 Orphanet:53271 SCTID:440350001 MESH:C537369 DOID:0060703 GARD:0007097 NCIT:C84904 UMLS:C1864436" +MONDO:0001268 "A loss of gum tissue resulting in an exposure of the roots of the teeth." "ICD9:523.21 ICD9:523.20 ICD9:523.23 ICD9:523.22 UMLS:C0017572 NCIT:C82068 UMLS:C0266916 ICD10CM:K06.0 ICD9:523.24 SCTID:59898000 DOID:1134 MESH:D005889 ICD9:523.2" +MONDO:0009745 "Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "ICD10CM:E75.4 MESH:C575534 OMIM:256731 GARD:0001223 DOID:0110728 Orphanet:228360 Orphanet:168491" MONDO:0006276 "An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." "NCIT:C39740 ICDO:8827/1 ONCOTREE:IMTL UMLS:C1518038 EFO:1000333" MONDO:0018472 "Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated." "DOID:0111566 OMIM:190330 SCTID:764523004 Orphanet:411788" GO:0032060 "The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses." @@ -7718,7 +7712,7 @@ MONDO:0060663 "UMLS:CN873437 OMIM:617912" MONDO:0011203 "Orphanet:140 UMLS:C1865783 OMIM:602196 GARD:0010090 MESH:C535775" CHEBI:22712 "Any benzenoid aromatic compound consisting of the benzene skeleton and its substituted derivatives." MONDO:0010137 "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene." "Orphanet:95716 SCTID:63127008 UMLS:C0342196 OMIM:274900 MESH:C562771" -MONDO:0007461 "Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait." "ICD10:Q87.1 OMIM:126190 Orphanet:2868 MESH:C565094 UMLS:C1852073" +MONDO:0007461 "Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait." "OMIM:126190 Orphanet:2868 ICD10CM:Q87.1 MESH:C565094 UMLS:C1852073" http://identifiers.org/hgnc/5167 GO:0045598 "Any process that modulates the frequency, rate or extent of adipocyte differentiation." http://identifiers.org/hgnc/753 @@ -7727,19 +7721,19 @@ UBERON:0010284 MONDO:0020737 "DOID:0111434 OMIM:616732" UBERON:0001632 MONDO:0012402 "OMIM:610064" -MONDO:0010717 "Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." "Orphanet:765 OMIM:312170 Orphanet:79243 ICD9:277.6 ICD10:E74.4 GARD:0004620 SCTID:124593001" +MONDO:0010717 "Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." "Orphanet:765 OMIM:312170 Orphanet:79243 ICD9:277.6 GARD:0004620 ICD10CM:E74.4 SCTID:124593001" MONDO:0012668 "OMIM:611426" NCBITaxon:29189 "GC_ID:1" NCBITaxon:7203 "GC_ID:1" http://identifiers.org/hgnc/17129 UBERON:0001898 -MONDO:0017868 "Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described." "Orphanet:319192 ICD10:Q04.8" +MONDO:0017868 "Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described." "ICD10CM:Q04.8 Orphanet:319192" MONDO:0007981 "Orphanet:512 OMIM:156310 MESH:C563587 UMLS:C1835007" ENVO:01000648 "Magma is a mixture of molten or semi-molten rock, volatiles, and solids that is found beneath the uppermost solid layer of a planetary body. Besides molten rock, magma may also contain suspended crystals, dissolved gas and sometimes gas bubbles." NCBITaxon:9604 "GC_ID:1" MONDO:0010009 UBERON:1000024 -MONDO:0012867 "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15." "ICD10:G11.4 OMIM:612335 Orphanet:171617 DOID:0110789 MESH:C567349 UMLS:C2676732" +MONDO:0012867 "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15." "ICD10CM:G11.4 OMIM:612335 Orphanet:171617 DOID:0110789 MESH:C567349 UMLS:C2676732" ENVO:00002007 "Sediment is an environmental substance comprised of any particulate matter that can be transported by fluid flow and which eventually is deposited as a layer of solid particles on the bedor bottom of a body of water or other liquid." MONDO:0011206 "UMLS:C1865780 OMIM:602200 MESH:C566565" MONDO:0002827 @@ -7754,25 +7748,25 @@ MONDO:0001169 "A spastic cerebral palsy that affects only one limb." "MESH:D0025 MONDO:0004388 GO:1901362 "The chemical reactions and pathways resulting in the formation of organic cyclic compound." UBERON:0001893 -MONDO:0017046 "Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation." "ICD10:C71.9 GARD:0003963 OMIM:612219 Orphanet:2677" +MONDO:0017046 "Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation." "GARD:0003963 ICD10CM:C71.9 OMIM:612219 Orphanet:2677" MONDO:0044969 MONDO:0012433 "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene." "UMLS:C1857779 OMIM:610189 MESH:C565708 Orphanet:3156" -MONDO:0011740 "Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites." "UMLS:C1847319 MESH:C564650 ICD10:D44.8 OMIM:606864 DOID:0080533 SCTID:722377004 Orphanet:97286 NCIT:C94831 GARD:0010643" +MONDO:0011740 "Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites." "UMLS:C1847319 MESH:C564650 OMIM:606864 DOID:0080533 SCTID:722377004 Orphanet:97286 NCIT:C94831 GARD:0010643 ICD10CM:D44.8" MONDO:0012403 "OMIM:610065" -MONDO:0018479 "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." "OMIM:613571 SCTID:237751000 ICD10:E25.9 Orphanet:418 OMIM:201710 OMIM:202010 ICD9:255.2 NCIT:C34360 GARD:0001467 DOID:0050811 ICD10:E25.0 MESH:D000312 UMLS:C0001627 ICD10:E25 OMIM:201910 UMLS:C0701163 OMIM:201810 OMIM:202110 MedDRA:10010323" +MONDO:0018479 "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." "OMIM:613571 SCTID:237751000 Orphanet:418 OMIM:201710 OMIM:202010 ICD9:255.2 NCIT:C34360 GARD:0001467 DOID:0050811 MESH:D000312 UMLS:C0001627 OMIM:201910 UMLS:C0701163 OMIM:201810 OMIM:202110 MedDRA:10010323" PATO:0000048 "A physical quality inhering in a bearer by virtue of the bearer's resistance to pressure, being broken, or pierced" http://identifiers.org/hgnc/23230 MONDO:0000612 "A malignant neoplasm involving the lymphatic part of lymphoid system" "DOID:0060073" MONDO:0008080 "OMIM:162260 Orphanet:93921 SCTID:254240003 MESH:C537389" NCBITaxon:59263 "GC_ID:1" NCBITaxon:33993 "PMID:7537065 PMID:11760958 GC_ID:11" -MONDO:0001821 "A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition." "SCTID:270903007 DOID:13868 NCIT:C94337 ICD10:F52.0 ICD9:302.71" +MONDO:0001821 "A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition." "SCTID:270903007 DOID:13868 NCIT:C94337 ICD9:302.71 ICD10CM:F52.0" MONDO:0020730 "OMIM:115430" http://identifiers.org/hgnc/34 -MONDO:0014800 "Orphanet:447977 OMIM:616852 UMLS:C4225181 ICD10:G71.0" +MONDO:0014800 "Orphanet:447977 OMIM:616852 ICD10CM:G71.0 UMLS:C4225181" MONDO:0006640 "Excess production of adrenal cortex hormones." "SCTID:275437005 NCIT:C113208 MESH:D000308 UMLS:CN205287 HP:0003118 UMLS:C0001622 DOID:3947 EFO:1000797 GARD:0008252 ICD9:255.3" MONDO:0044701 "Orphanet:500180 OMIM:617672 UMLS:CN469330" -MONDO:0009284 "MESH:C565545 UMLS:C1856399 OMIM:231900 ICD10:D55.1 Orphanet:289849 Orphanet:32" +MONDO:0009284 "ICD10CM:D55.1 MESH:C565545 UMLS:C1856399 OMIM:231900 Orphanet:289849 Orphanet:32" CL:0002123 "A B220-low CD38-positive IgG-negative memory B cell is a CD38-positive IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype B220-low, CD38-positive, and IgG-positive." MONDO:0015233 "Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys." "MESH:C537713 GARD:0001163 Orphanet:1123 UMLS:C2931593 SCTID:726621009" CL:0002553 "A fibroblast that is part of lung." "CALOHA:TS-0575 BTO:0000764" @@ -7780,7 +7774,7 @@ MONDO:0005484 "An adenoma that arises from the colon or rectum. The group of col GO:0048589 "The increase in size or mass of an entire organism, a part of an organism or a cell, where the increase in size or mass has the specific outcome of the progression of the organism over time from one condition to another." MONDO:0013868 "Orphanet:79152 OMIM:614714" MONDO:0011205 "UMLS:C1865781 MESH:C566566 GARD:0010329 OMIM:602199" -MONDO:0008475 "A condition in which there is forward displacement of a vertebral bone over the on below it." "NCIT:C35033 DOID:6682 EFO:0007493 HP:0003302 UMLS:C0038016 MESH:D013168 OMIM:184200 ICD10:M43.10 ICD10:M43.1 SCTID:274152003" +MONDO:0008475 "A condition in which there is forward displacement of a vertebral bone over the on below it." "NCIT:C35033 DOID:6682 EFO:0007493 HP:0003302 UMLS:C0038016 MESH:D013168 OMIM:184200 SCTID:274152003" SO:0000301 "A feature where recombination has occurred for the purpose of generating a diversity in the immune system." UBERON:1000023 CHEBI:33743 @@ -7797,9 +7791,9 @@ MONDO:0012404 "OMIM:610066" GO:0004970 "Catalysis of the transmembrane transfer of an ion by a channel that opens when glutamate has been bound by the channel complex or one of its constituent parts." MONDO:0044702 "DOID:0111738 Orphanet:500188 OMIM:301018" UBERON:0001892 -MONDO:0001629 "ICD10:M12.0 UMLS:C0152084 ICD9:714.4 SCTID:84801008 DOID:13080 ICD10:M12.00" +MONDO:0001629 "UMLS:C0152084 ICD9:714.4 SCTID:84801008 DOID:13080" MONDO:0045057 "A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)" "ICD9:293.0 MESH:D003693 SCTID:2776000 UMLS:C0011206 EFO:0009267" -MONDO:0015195 "Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development." "HP:0000068 Orphanet:105 MedDRA:10064895 SCTID:253902002 ICD10:Q64.3" +MONDO:0015195 "Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development." "HP:0000068 Orphanet:105 MedDRA:10064895 SCTID:253902002" MONDO:0012771 "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene." "OMIM:611960" MONDO:0044700 "Orphanet:500166" http://identifiers.org/hgnc/37 @@ -7809,7 +7803,7 @@ GO:0030810 "Any process that activates or increases the frequency, rate or exten NCBITaxon:9606 "GC_ID:1" MONDO:0002825 MONDO:0013603 "OMIM:614166 UMLS:C3279996" -MONDO:0008484 "Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia." "UMLS:C1866656 OMIM:184460 ICD10:Q87.8 Orphanet:140917 SCTID:719305006" +MONDO:0008484 "Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia." "UMLS:C1866656 ICD10CM:Q87.8 OMIM:184460 Orphanet:140917 SCTID:719305006" GO:0050922 "Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient." MONDO:0005007 "An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion." "EFO:0000364 UMLS:C0279639 NCIT:C7966 DOID:3029" MONDO:0006785 @@ -7819,7 +7813,7 @@ CL:0009030 "An intestinal enteroendocrine cell that is located in a vermiform ap MONDO:0100228 "Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene." MONDO:0021083 "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene." "OMIM:135700 Orphanet:45358" UBERON:0001895 -MONDO:0008175 "Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal." "UMLS:C1833676 ICD10:Q77.8 Orphanet:1952 GARD:0004189 SCTID:722127006 OMIM:167220 MESH:C538095" +MONDO:0008175 "Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal." "UMLS:C1833676 Orphanet:1952 GARD:0004189 ICD10CM:Q77.8 SCTID:722127006 OMIM:167220 MESH:C538095" CHEBI:33246 "Any substituent group which does not contain carbon." MONDO:0016462 "Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." "OMIM:615214 OMIM:613502 OMIM:300310 OMIM:300755 OMIM:613506 OMIM:601495 OMIM:613501 OMIM:613500 SCTID:764858009 OMIM:612692 Orphanet:229717 OMIM:616941" MONDO:0020732 "OMIMPS:176670" @@ -7835,8 +7829,8 @@ MONDO:0002826 http://identifiers.org/hgnc/24431 UBERON:1000021 HP:0000365 "A decreased magnitude of the sensory perception of sound." "UMLS:C0018772 SNOMEDCT_US:103276001 SNOMEDCT_US:95828007 UMLS:C1384666 MSH:D003638 MSH:D034381 UMLS:C0011053 SNOMEDCT_US:15188001 Fyler:4868 UMLS:C0339789 SNOMEDCT_US:343087000" -MONDO:0016595 "A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated." "SCTID:11389007 ICD10:A22.1 MESH:C571912 UMLS:C0155866 MedDRA:10035667 ICD9:022.1 Orphanet:247257 DOID:0050160" -MONDO:0005495 "A disease involving the adrenal gland." "ICD9:255.8 EFO:0005539 ICD10:E27.9 ICD9:255 MESH:D000307 ICD9:255.9 NCIT:C26690 SCTID:30171000 DOID:9553" +MONDO:0016595 "A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated." "SCTID:11389007 ICD10CM:A22.1 MESH:C571912 UMLS:C0155866 MedDRA:10035667 ICD9:022.1 Orphanet:247257 DOID:0050160" +MONDO:0005495 "A disease involving the adrenal gland." "ICD9:255.8 EFO:0005539 ICD9:255 MESH:D000307 ICD9:255.9 NCIT:C26690 SCTID:30171000 DOID:9553" GO:0042742 "Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism." MONDO:0004123 GO:0030449 "Any process that modulates the frequency, rate or extent of complement activation." @@ -7844,15 +7838,15 @@ MONDO:0004391 "OBSOLETE. A extraosseous chondrosarcoma that occurs in an adult." http://identifiers.org/hgnc/5163 MONDO:0100056 "A rare disorder in which anaphylaxis occurs in association with physical activity." GO:0002433 "An immune response-regulating cell surface receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes." -MONDO:0054559 "Orphanet:435934 OMIM:617395 ICD10:E77.8 UMLS:C4479353 DOID:0070269" +MONDO:0054559 "Orphanet:435934 OMIM:617395 UMLS:C4479353 ICD10CM:E77.8 DOID:0070269" http://identifiers.org/hgnc/25896 UBERON:0001894 MONDO:0020999 "Orphanet:101960" MF:0000073 "Intentionality is the fundamental quality of conscious mental processes of always having content, of being directed towards, or about something." GO:0045764 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amino acid." MONDO:0020733 "UMLS:C3714899 OMIM:185800 Orphanet:3250" -MONDO:0010287 "A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2." "DOID:0110769 OMIM:300266 GARD:0009585 Orphanet:100997 UMLS:C1846046 ICD10:G11.4 MESH:C536643" -MONDO:0009110 "Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit." "GARD:0001855 UMLS:C1857253 MESH:C536171 DOID:0060650 SCTID:716747007 ICD10:E72.0 Orphanet:2195 OMIM:222730" +MONDO:0010287 "A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2." "DOID:0110769 OMIM:300266 GARD:0009585 Orphanet:100997 ICD10CM:G11.4 UMLS:C1846046 MESH:C536643" +MONDO:0009110 "Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit." "GARD:0001855 UMLS:C1857253 ICD10CM:E72.0 MESH:C536171 DOID:0060650 SCTID:716747007 Orphanet:2195 OMIM:222730" http://identifiers.org/hgnc/9957 GO:0006650 "The chemical reactions and pathways involving glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue." MONDO:0003268 "A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes)." "MESH:D005910 ICDO:9382/3 DOID:5076 UMLS:C0259783 NCIT:C3903 SCTID:443937008" @@ -7861,25 +7855,26 @@ MONDO:0007715 "MESH:C564197 UMLS:C1841622 OMIM:141700" MONDO:0016159 "MESH:C537678 Orphanet:2074 GARD:0002451 UMLS:C2931587" GO:0051966 "Any process that modulates the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate." http://identifiers.org/hgnc/16187 -MONDO:0010589 "Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." "ICD9:759.89 MedDRA:10067148 ICD10:Q87.1 GARD:0004775 OMIM:100050 OMIM:305400 MESH:C535331 Orphanet:915 SCTID:14921002 NCIT:C129720" -MONDO:0007055 "Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." "ICD10:Q77.8 MESH:C535662 Orphanet:969 ICD9:756.59 SCTID:254090007 OMIM:102370 GARD:0000007 DOID:0111243" +MONDO:0010589 "Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." "ICD9:759.89 MedDRA:10067148 GARD:0004775 OMIM:100050 OMIM:305400 MESH:C535331 Orphanet:915 SCTID:14921002 NCIT:C129720" +MONDO:0007055 "Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." "MESH:C535662 Orphanet:969 ICD10CM:Q77.8 ICD9:756.59 SCTID:254090007 OMIM:102370 GARD:0000007 DOID:0111243" CHR:9606-chr11p15.4 MONDO:0100406 "Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)" "NCIT:C167195" http://identifiers.org/hgnc/3600 MONDO:0021333 "A carcinoma that involves the lip." "NCIT:C3490 UMLS:C0149637 SCTID:269515006" +MONDO:0100491 "A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time." "ICD10:L40.1 UMLS:C0343055 SCTID:238612002" MONDO:0010262 "UMLS:C1970936 MESH:C537159 GARD:0009601 OMIM:300184" -MONDO:0009731 "Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant." "ICD10:Q87.8 UMLS:C1850552 MESH:C536402 Orphanet:2669 GARD:0003943 OMIM:256200" +MONDO:0009731 "Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant." "UMLS:C1850552 MESH:C536402 Orphanet:2669 GARD:0003943 OMIM:256200 ICD10CM:Q87.8" MONDO:0003695 "An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma." "DOID:5897 NCIT:C40085 UMLS:C1518694" MONDO:0044977 UBERON:0010023 -MONDO:0009263 "GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" "GARD:0000400 ICD10:Q87.8 SCTID:721843003 Orphanet:2067 OMIM:230740" +MONDO:0009263 "GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" "GARD:0000400 ICD10CM:Q87.8 SCTID:721843003 Orphanet:2067 OMIM:230740" MONDO:0008912 "MESH:C565883 OMIM:212090 UMLS:C1859331" -MONDO:0007841 "Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis." "SCTID:720752007 UMLS:C1840061 MESH:C535540 GARD:0003030 Orphanet:1509 DOID:0111382 ICD10:Q74.1 OMIM:147891" +MONDO:0007841 "Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis." "SCTID:720752007 UMLS:C1840061 MESH:C535540 ICD10CM:Q74.1 GARD:0003030 Orphanet:1509 DOID:0111382 OMIM:147891" MONDO:0100430 "A liver disease characterized by the presence of excessive fibrous connective tissue in the liver." -MONDO:0009923 "A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis." "OMIM:264600 MESH:C535830 Orphanet:753 SCTID:57514000 GARD:0005680 NCIT:C98699 MedDRA:10000029 ICD10:Q56.1" +MONDO:0009923 "A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis." "OMIM:264600 MESH:C535830 Orphanet:753 ICD10CM:Q56.1 SCTID:57514000 GARD:0005680 NCIT:C98699 MedDRA:10000029" UBERON:0009027 http://identifiers.org/hgnc/9958 -MONDO:0016971 "Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." "SCTID:78468005 Orphanet:263 ICD10:G71.0 UMLS:C0686353 MESH:D049288 DOID:11724 NCIT:C84828 UMLS:C0270950 GARD:0006907" +MONDO:0016971 "Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." "SCTID:78468005 ICD10CM:G71.0 Orphanet:263 UMLS:C0686353 MESH:D049288 DOID:11724 NCIT:C84828 UMLS:C0270950 GARD:0006907" MONDO:0044975 ENVO:00005800 "Sand which is part of a desert." UBERON:0011222 @@ -7890,22 +7885,22 @@ CL:0000055 "A precursor cell with a limited number of potential fates." "FMA:847 MONDO:0003002 "A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage." "ICDO:9060/3 MESH:D004407 HP:0100621 DOID:4441 UMLS:C0013377 NCIT:C2996" NCBITaxon:46919 "GC_ID:1" MONDO:0006741 "Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation." "UMLS:C0014068 SCTID:58762006 EFO:1000915 MedDRA:10051818 MESH:D004678 DOID:2034 NCIT:C98920" -MONDO:0001946 "Abnormally high level of estrogen." "SCTID:37295009 EFO:0009004 NCIT:C113344 UMLS:C0154209 DOID:14336 ICD10:E28.0 ICD9:256.0" +MONDO:0001946 "Abnormally high level of estrogen." "ICD10CM:E28.0 SCTID:37295009 EFO:0009004 NCIT:C113344 UMLS:C0154209 DOID:14336 ICD9:256.0" MONDO:0054549 "OMIM:617370" HP:0000496 "An abnormality in voluntary or involuntary eye movements or their control." "UMLS:C0497202 SNOMEDCT_US:103252009" GO:0021700 "A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state." -MONDO:0017357 "UMLS:CN203020 ICD10:P74.8 Orphanet:289877" -MONDO:0010261 "SCTID:699300009 GARD:0004628 OMIM:300166 Orphanet:568 ICD10:Q87.8 Orphanet:2712 ICD9:759.89" -MONDO:0008471 "Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." "MedDRA:10062920 GARD:0004987 ICD10:Q77.7 DOID:14789 ICD9:756.9 OMIM:183900 Orphanet:94068 MESH:C535788 SCTID:278713008" +MONDO:0017357 "UMLS:CN203020 ICD10CM:P74.8 Orphanet:289877" +MONDO:0010261 "ICD10CM:Q87.8 SCTID:699300009 GARD:0004628 OMIM:300166 Orphanet:568 Orphanet:2712 ICD9:759.89" +MONDO:0008471 "Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." "MedDRA:10062920 GARD:0004987 DOID:14789 ICD9:756.9 OMIM:183900 Orphanet:94068 MESH:C535788 SCTID:278713008 ICD10CM:Q77.7" http://identifiers.org/hgnc/14889 MONDO:0008911 "OMIM:212080 Orphanet:137675 UMLS:C1859332 MESH:C565884" -MONDO:0009009 "Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing." "OMIM:217090 UMLS:C1968804 Orphanet:722 ICD10:L90.5 SCTID:95840007 GARD:0004380 MESH:C580017 UMLS:C0398621" -MONDO:0010339 "X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12)." "Orphanet:85294 MESH:C564505 ICD10:Q87.8 UMLS:C1845343 OMIM:300491" +MONDO:0009009 "Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing." "OMIM:217090 ICD10CM:L90.5 UMLS:C1968804 Orphanet:722 SCTID:95840007 GARD:0004380 MESH:C580017 UMLS:C0398621" +MONDO:0010339 "X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12)." "Orphanet:85294 MESH:C564505 ICD10CM:Q87.8 UMLS:C1845343 OMIM:300491" UBERON:0007728 GO:0014064 "Any process that activates or increases the frequency, rate or extent of the regulated release of serotonin." http://identifiers.org/hgnc/4800 MONDO:0006395 "A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." "NCIT:C5620 UMLS:C1335691 EFO:1000505 SCTID:448428002" -MONDO:0015411 "A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences." "NCIT:C124510 Orphanet:141229 ICD10:Q18.8 SCTID:92821006" +MONDO:0015411 "A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences." "NCIT:C124510 Orphanet:141229 SCTID:92821006 ICD10CM:Q18.8" MONDO:0044974 GO:0030813 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides." MONDO:0016157 "Orphanet:207122" @@ -7913,53 +7908,53 @@ MONDO:0002267 "Any disorder marked by obstruction of conducting airways of the l NCBITaxon:2497576 "GC_ID:1" MONDO:0007717 "UMLS:C1840647 OMIM:142309" http://identifiers.org/hgnc/3602 -MONDO:0016594 "Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria." "Orphanet:247245 ICD10:I69.0 GARD:0009484" -MONDO:0018901 "Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." "OMIM:601493 OMIM:611878 UMLS:C4021133 OMIM:609470 OMIM:615373 OMIM:613426 OMIMPS:604169 OMIM:615092 ICD10:I42.8 NCIT:C99544 OMIM:615396 Orphanet:54260 OMIM:613424 UMLS:C1960469 OMIM:601494 GARD:0010985 DOID:0060480 OMIM:604169" +MONDO:0016594 "Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria." "Orphanet:247245 ICD10CM:I69.0 GARD:0009484" +MONDO:0018901 "Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events." "OMIM:601493 OMIM:611878 UMLS:C4021133 OMIM:609470 OMIM:615373 OMIM:613426 OMIMPS:604169 OMIM:615092 NCIT:C99544 OMIM:615396 Orphanet:54260 OMIM:613424 UMLS:C1960469 ICD10CM:I42.8 OMIM:601494 GARD:0010985 DOID:0060480 OMIM:604169" GO:0004357 "Catalysis of the reaction: L-cysteine + L-glutamate + ATP = L-gamma-glutamyl-L-cysteine + ADP + 2 H(+) + phosphate." MONDO:0021337 "A carcinoma that involves the tonsil." "NCIT:C4825 SCTID:274085008 UMLS:C0558355" MONDO:0021056 "Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene." "Orphanet:79665 Orphanet:247806 UMLS:C0017097 Orphanet:733 DOID:0080409 Orphanet:220460 OMIM:175100 UMLS:C2674616 Orphanet:99818" -MONDO:0015567 "Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years." "Orphanet:162 UMLS:CN199931 ICD10:Q12.0 SCTID:718851007 GARD:0001160" +MONDO:0015567 "Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years." "ICD10CM:Q12.0 Orphanet:162 UMLS:CN199931 SCTID:718851007 GARD:0001160" UBERON:0001891 http://identifiers.org/hgnc/7559 UBERON:0010025 GO:0042562 "Binding to an hormone, a naturally occurring substance secreted by specialized cells that affect the metabolism or behavior of cells possessing functional receptors for the hormone. Hormones may be produced by the same, or different, cell as express the receptor." MONDO:0020740 "UMLS:C1846006 Orphanet:98813 Orphanet:238468 OMIM:300291" http://identifiers.org/hgnc/4801 -MONDO:0005802 "A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability." "UMLS:C0020413 MESH:D006925 NCIT:C84768 ICD10:B71.0 GARD:0002787 MedDRA:10020546 ICD9:123.6 Orphanet:401 SCTID:44917000 EFO:0007317 UMLS:C0277045 DOID:10074" +MONDO:0005802 "A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability." "UMLS:C0020413 MESH:D006925 NCIT:C84768 GARD:0002787 MedDRA:10020546 ICD9:123.6 Orphanet:401 SCTID:44917000 EFO:0007317 UMLS:C0277045 DOID:10074 ICD10CM:B71.0" MONDO:0016156 "Orphanet:207119" MONDO:0021132 "An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism." "UMLS:C0271858 ICD9:588.89 SCTID:78200003 NCIT:C114821" -MONDO:0019393 "Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea." "ICD10:K90.8 Orphanet:84065" +MONDO:0019393 "Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea." "ICD10CM:K90.8 Orphanet:84065" MONDO:0007718 "UMLS:C1840646 MESH:C564190 OMIM:142330 DOID:0111366" -MONDO:0001437 "A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever." "MESH:D011649 DOID:12120 ICD9:516.0 ICD10:J84.01 OMIM:265120 OMIM:614370 Reactome:R-HSA-5683826 OMIM:610913 Orphanet:264675 UMLS:C0034050 OMIM:610921 OMIM:300770 NCIT:C85037 SCTID:10501004" +MONDO:0001437 "A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever." "MESH:D011649 DOID:12120 ICD9:516.0 OMIM:265120 OMIM:614370 Reactome:R-HSA-5683826 OMIM:610913 Orphanet:264675 UMLS:C0034050 OMIM:610921 OMIM:300770 NCIT:C85037 SCTID:10501004" http://identifiers.org/hgnc/3604 MONDO:0013378 "Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene." "Orphanet:1991 OMIM:613705 MESH:C566605 DOID:0080403" -MONDO:0010167 "Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." "OMIM:276880 HP:0012237 Orphanet:210128 SCTID:60952007 GARD:0008539 UMLS:C0268514 MESH:C536479 ICD10:E70.8" +MONDO:0010167 "Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." "ICD10CM:E70.8 OMIM:276880 HP:0012237 Orphanet:210128 SCTID:60952007 GARD:0008539 UMLS:C0268514 MESH:C536479" MONDO:0021199 "OBSOLETE. A disease that disrupts the functioning of an organ system." "ICD9:796.4 DOID:7 SCTID:362965005 UMLS:C1285159" http://identifiers.org/hgnc/3603 MONDO:0012660 "OMIM:611381" UBERON:0001890 -MONDO:0010263 "SCTID:720982007 OMIM:300194 ICD10:Q87.8 OMIM:300990 MESH:C564570 Orphanet:86818 UMLS:C1846242" +MONDO:0010263 "SCTID:720982007 OMIM:300194 OMIM:300990 MESH:C564570 Orphanet:86818 ICD10CM:Q87.8 UMLS:C1846242" PATO:0001476 "A positional which is relatively low." -MONDO:0018658 "19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features." "UMLS:CN237720 ICD10:Q92.3 OMIM:613638 Orphanet:447980" +MONDO:0018658 "19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features." "UMLS:CN237720 OMIM:613638 Orphanet:447980" MONDO:0100126 "An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy." UBERON:0010026 UBERON:0010028 MONDO:0018550 "Orphanet:431320 UMLS:CN237550" -MONDO:0002586 "A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites." "ICD9:164.0 UMLS:C0751552 ICD10:C37 DOID:3277 SCTID:363434003 NCIT:C4962" +MONDO:0002586 "A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites." "ICD9:164.0 UMLS:C0751552 DOID:3277 SCTID:363434003 NCIT:C4962" MONDO:0012529 "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene." "Orphanet:124 UMLS:C1857719 GARD:0010241 OMIM:610629 MESH:C536355" CL:0009024 "A mesothelial cell that is part of the small intestine." CHEBI:139590 "An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a -CH2 (methylene) group." MONDO:0060666 "UMLS:CN895589 OMIM:617915" MONDO:0016155 "Orphanet:207113" NCBITaxon:2497574 "GC_ID:1" -MONDO:0020550 "Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole." "ICD10:C58 UMLS:C0349557 NCIT:C4646 DOID:2025 Orphanet:99926 ICD9:181 SCTID:417570003" -MONDO:0017352 "SCTID:190724004 Orphanet:289841 UMLS:C0342669 ICD9:270.7 ICD10:E72.8" +MONDO:0020550 "Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole." "UMLS:C0349557 NCIT:C4646 DOID:2025 Orphanet:99926 ICD9:181 ICD10CM:C58 SCTID:417570003" +MONDO:0017352 "SCTID:190724004 Orphanet:289841 UMLS:C0342669 ICD10CM:E72.8 ICD9:270.7" GO:2000726 "Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell differentiation." GO:0006415 "The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code)." MONDO:0012661 "OMIM:611382" -MONDO:0011271 "An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage." "Orphanet:84132 DOID:0110633 ICD10:G71.8 UMLS:C0410180 Orphanet:598 MESH:C535683 OMIM:602771 SCTID:240063002 Orphanet:97244 Orphanet:324604 NCIT:C126691 ICD10:G71.2" +MONDO:0011271 "An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage." "Orphanet:84132 DOID:0110633 UMLS:C0410180 Orphanet:598 MESH:C535683 OMIM:602771 SCTID:240063002 Orphanet:97244 Orphanet:324604 NCIT:C126691" MONDO:0014278 "Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18." "DOID:0060017 UMLS:C3810127 OMIM:615615 Orphanet:169160" -MONDO:0019432 "Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset." "ICD10:M08.3 Orphanet:85408" +MONDO:0019432 "Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset." "Orphanet:85408 ICD10CM:M08.3" GO:0008610 "The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent." MONDO:0011597 "An atopic dermatitis associated with variation in the region 20p." "MESH:C565292 OMIM:605804 DOID:0110099 UMLS:C1853964" MONDO:0008916 "OMIM:212130 MESH:C565881 UMLS:C1859328" @@ -7970,11 +7965,11 @@ UBERON:0010027 MONDO:0006706 "Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae." "UMLS:C1136339 MESH:D039941 EFO:1000873" MONDO:0005236 "A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues." "HP:0001114 NCIT:C4071 EFO:0003075" MONDO:0044971 -MONDO:0006011 "An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis." "ICD9:573.1 EFO:0004196 MESH:D006525 UMLS:C0019195 NCIT:C35124 DOID:1884 SCTID:3738000 MESH:D006524 UMLS:C0019194 ICD10:B15.B19 UMLS:C0042721" +MONDO:0006011 "An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis." "ICD9:573.1 ICD10CM:B15-B19 EFO:0004196 MESH:D006525 UMLS:C0019195 NCIT:C35124 DOID:1884 SCTID:3738000 MESH:D006524 UMLS:C0019194 UMLS:C0042721" UBERON:1100000 MONDO:0007978 MONDO:0012837 "An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21." "OMIM:612255 DOID:0110897 UMLS:C2677094 MESH:C567381" -MONDO:0006702 "A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse." "SCTID:128209004 ICD10:G61.81 ICD9:357.89 ICD9:357.81 Orphanet:2932 EFO:1000868 DOID:5213 NCIT:C84636 SCTID:444728005 MESH:D020277 MedDRA:10057645" +MONDO:0006702 "A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse." "SCTID:128209004 ICD9:357.89 ICD9:357.81 Orphanet:2932 EFO:1000868 ICD10CM:G61.81 DOID:5213 NCIT:C84636 SCTID:444728005 MESH:D020277 MedDRA:10057645" http://identifiers.org/hgnc/3606 MONDO:0016154 "Orphanet:207110" MONDO:0000510 "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" "DOID:0050890 UMLS:C5191670 MESH:D000080874" @@ -7988,15 +7983,15 @@ MONDO:0021049 "A benign or malignant neoplasm that affects the vulva. Representa MONDO:0025303 "An disease or disorder caused by infection with Anaplasma." "SCTID:13906002" UBERON:0035416 MONDO:0045071 "NCIT:C39644 UMLS:C1513782" -MONDO:0013125 "CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." "ICD10:Q87.3 MESH:C567763 Orphanet:168984 UMLS:C2751313 OMIM:613089 SCTID:717765001" +MONDO:0013125 "CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." "MESH:C567763 Orphanet:168984 UMLS:C2751313 OMIM:613089 ICD10CM:Q87.3 SCTID:717765001" MONDO:0044970 -MONDO:0008406 "Autosomal recessive form of Emery-Dreifuss muscular dystrophy." "ICD10:G71.0 OMIM:616516 Orphanet:98855 UMLS:C2750035 MESH:D020389" +MONDO:0008406 "Autosomal recessive form of Emery-Dreifuss muscular dystrophy." "OMIM:616516 ICD10CM:G71.0 Orphanet:98855 UMLS:C2750035 MESH:D020389" UBERON:0012429 -MONDO:0014214 "An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36." "UMLS:C3809691 ICD10:Q77.2 OMIM:615503 DOID:0110094 Orphanet:93271" -MONDO:0009556 "Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD)." "SCTID:361203007 GARD:0003371 ICD10:E72.8 UMLS:C0342793 Orphanet:943 MESH:C535702 OMIM:248360" +MONDO:0014214 "An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36." "UMLS:C3809691 OMIM:615503 DOID:0110094 Orphanet:93271" +MONDO:0009556 "Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD)." "SCTID:361203007 GARD:0003371 ICD10CM:E72.8 UMLS:C0342793 Orphanet:943 MESH:C535702 OMIM:248360" MONDO:0008078 "DOID:0111253 Orphanet:636 OMIM:162210 MESH:C563523 UMLS:C1834235" NBO:0000306 "\"Behavior related with the ability of an organism's ability to store information and experiences.\" [NBO:GVG]" -MONDO:0007713 "UMLS:C1841639 OMIM:141405 UMLS:C3536936 Orphanet:221083 MESH:C564198 ICD10:G51.3" +MONDO:0007713 "UMLS:C1841639 OMIM:141405 UMLS:C3536936 Orphanet:221083 MESH:C564198 ICD10CM:G51.3" http://identifiers.org/hgnc/13429 MONDO:0013861 GO:1904748 "Any process that modulates the frequency, rate or extent of apoptotic process involved in development." @@ -8009,23 +8004,23 @@ HP:0012372 "A structural anomaly of the globe of the eye, or bulbus oculi." "Fyl HP:0040214 "An abnormal concentration of insulin in the body." "UMLS:C4073160" MONDO:0009013 "MESH:C565678 UMLS:C1857575 OMIM:217200" MONDO:0008201 "Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." "OMIM:168605 GARD:0010453 DOID:0060486 Orphanet:178509 SCTID:699184009 MESH:C566822 UMLS:C1868594 ICD9:348.89" -MONDO:0019521 "Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk." "ICD10:Q81.2 SCTID:725419003 Orphanet:89841 UMLS:C4511056" +MONDO:0019521 "Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk." "SCTID:725419003 Orphanet:89841 UMLS:C4511056 ICD10CM:Q81.2" MONDO:0043455 "Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function." "MESH:C562390 UMLS:C0149911 NCIT:C3496 SCTID:47709007" MONDO:0012663 "OMIM:611384" GO:0061615 "The chemical reactions and pathways resulting in the breakdown of a monosaccharide into pyruvate, occurring through a fructose-6-phosphate intermediate, with the concomitant production of ATP and NADH." http://identifiers.org/hgnc/4805 -MONDO:0009468 "Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible." "MedDRA:10037149 MESH:D011559 OMIM:243200 NCIT:C85035 EFO:1001132 ICD9:348.2 GARD:0004561 UMLS:C0033845 ICD10:G93.2 DOID:11459 Orphanet:238624 SCTID:68267002" +MONDO:0009468 "Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible." "MedDRA:10037149 MESH:D011559 OMIM:243200 NCIT:C85035 EFO:1001132 ICD9:348.2 GARD:0004561 UMLS:C0033845 DOID:11459 Orphanet:238624 SCTID:68267002" ENVO:01001434 "A process during which an ecosystem - natural or anthropised - is changed by the actions of humans." MONDO:0008914 "GARD:0008519 UMLS:C1859329 OMIM:212100 MESH:C535577" CHEBI:16189 "A sulfur oxoanion obtained by deprotonation of both OH groups of sulfuric acid." http://identifiers.org/hgnc/8754 MONDO:0000921 "A benign or malignant neoplasm involving the ampulla of Vater." "UMLS:C0345916 NCIT:C4443 SCTID:126858004 ONCOTREE:AMPULLAOFVATER DOID:10022" -MONDO:0020567 "Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases." "ICD10:P28.4 NCIT:C98823 SCTID:276544005 Orphanet:99981" +MONDO:0020567 "Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases." "ICD10CM:P28.4 NCIT:C98823 SCTID:276544005 Orphanet:99981" ENVO:01000203 "An environmental condition is a range of a determinate quality or combination of qualities that are present in an environmental system." MONDO:0014693 "Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene." "OMIM:616564 DOID:0060588 Orphanet:648 UMLS:C4225280" MONDO:0008079 "OMIM:162240 UMLS:C1834232 GARD:0010543 MESH:C563522" MONDO:0007714 -MONDO:0017181 "Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes." "HP:0012459 ICD10:G44.8 MESH:D051270 Orphanet:276429 ICD9:339.81 GARD:0010796 SCTID:122711000119109" +MONDO:0017181 "Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes." "HP:0012459 MESH:D051270 Orphanet:276429 ICD9:339.81 ICD10CM:G44.8 GARD:0010796 SCTID:122711000119109" MONDO:0005317 http://identifiers.org/hgnc/6357 UBERON:2002098 @@ -8033,17 +8028,17 @@ MONDO:0011465 "GARD:0009788 MESH:C537655 DOID:4279 NCIT:C27540 OMIM:604451 UMLS MONDO:0013862 "OMIM:614699 UMLS:C3542922 Orphanet:1572" MONDO:0016152 "Orphanet:207104" MONDO:0010319 "X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported." "MESH:C564516 Orphanet:2076 Orphanet:93952 OMIM:300423 DOID:0060806 UMLS:C1845543" -MONDO:0017351 "ICD9:270.8 Orphanet:289832 SCTID:237929000 ICD9:270.7 ICD10:E72.3" +MONDO:0017351 "ICD10CM:E72.3 ICD9:270.8 Orphanet:289832 SCTID:237929000 ICD9:270.7" NCBITaxon:29185 "GC_ID:1" -MONDO:0014385 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene." "DOID:0110063 ICD10:K00.5 UMLS:C4014578 Orphanet:100033 OMIM:615887" -MONDO:0018940 "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness." "GARD:0011902 OMIM:616322 GARD:0000098 OMIMPS:601462 NCIT:C84647 OMIM:254300 OMIM:615120 OMIM:614198 ICD9:358.00 Orphanet:590 OMIM:616314 OMIM:254190 OMIM:616326 OMIM:603034 SCTID:230672006 OMIM:616321 OMIM:605809 OMIM:616720 OMIM:616040 OMIM:608930 OMIM:616323 ICD9:V17.89 OMIM:614750 OMIM:616228 ICD10:G70.2 OMIM:616325 OMIM:616324 OMIM:616304 OMIM:608931 OMIM:616330 MESH:D020294 OMIM:610542 OMIM:617143 UMLS:C0751882 OMIM:254210 OMIM:616227 OMIM:616313 DOID:3635 OMIM:601462" +MONDO:0014385 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene." "DOID:0110063 UMLS:C4014578 Orphanet:100033 OMIM:615887" +MONDO:0018940 "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness." "GARD:0011902 OMIM:616322 GARD:0000098 OMIMPS:601462 NCIT:C84647 OMIM:254300 OMIM:615120 OMIM:614198 ICD9:358.00 Orphanet:590 OMIM:616314 OMIM:254190 OMIM:616326 OMIM:603034 SCTID:230672006 OMIM:616321 OMIM:605809 OMIM:616720 OMIM:616040 OMIM:608930 OMIM:616323 ICD9:V17.89 OMIM:614750 OMIM:616228 OMIM:616325 OMIM:616324 OMIM:616304 OMIM:608931 OMIM:616330 MESH:D020294 OMIM:610542 OMIM:617143 UMLS:C0751882 OMIM:254210 OMIM:616227 OMIM:616313 DOID:3635 OMIM:601462" NCBITaxon:2497571 "GC_ID:1" MONDO:0009278 MONDO:0020095 "OBSOLETE. Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature." "Orphanet:98353 UMLS:CN206999" MONDO:0010267 "OMIM:300211 MESH:C564565 UMLS:C1846173" http://identifiers.org/hgnc/2409 FOODON:03302116 "SUBSET_SIREN:F2116" -MONDO:0016088 "Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." "ICD10:E79.8 UMLS:C0023374 GARD:0002943 SCTID:124275001 Orphanet:206428 ICD9:277.6" +MONDO:0016088 "Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." "ICD10CM:E79.8 UMLS:C0023374 GARD:0002943 SCTID:124275001 Orphanet:206428 ICD9:277.6" MONDO:0004119 http://identifiers.org/hgnc/4806 MONDO:0020579 "Inflammation of the mucous membranes." "NCIT:C115965" @@ -8055,50 +8050,50 @@ http://identifiers.org/hgnc/2661 UBERON:0007722 CHR:9606-chr3q1 MONDO:0032714 "OMIM:618381" -MONDO:0004634 "A disease involving the vein." "SCTID:90507008 UMLS:C0235522 DOID:866 ICD9:453 ICD10:I82" +MONDO:0004634 "A disease involving the vein." "SCTID:90507008 UMLS:C0235522 DOID:866 ICD9:453 ICD10CM:I80-I89" GO:2000284 "Any process that activates or increases the frequency, rate or extent of cellular amino acid biosynthetic process." -MONDO:0007636 "Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed." "GARD:0012642 Orphanet:391474 ICD10:Q75.8 OMIM:136760 UMLS:C1876203 NCIT:C129028" +MONDO:0007636 "Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed." "GARD:0012642 ICD10CM:Q75.8 Orphanet:391474 OMIM:136760 UMLS:C1876203 NCIT:C129028" MONDO:0002510 "OBSOLETE. Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus." "DOID:3095 MESH:D009373" NCBITaxon:2497570 "GC_ID:1" -MONDO:0015800 "This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis." "Orphanet:178377 SCTID:722117000 ICD10:Q75.8 UMLS:CN200391" +MONDO:0015800 "This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis." "Orphanet:178377 SCTID:722117000 ICD10CM:Q75.8 UMLS:CN200391" UBERON:0006524 MONDO:0024248 "OBSOLETE. A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)" "MESH:D010915 SCTID:34630004 ICD9:696.5" -MONDO:0016372 "Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases." "Orphanet:221098 GARD:0006519 MedDRA:10018391 DOID:14423 SCTID:43763009 ICD10:G52.1 ICD9:352.1 UMLS:C0154731" -MONDO:0006515 "An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs." "Wikipedia:Acute_pancreatitis ICD10:K85.9 EFO:1000652 UMLS:C0267941 MESH:D019283 ICD10:K85 ICD9:577.0 SCTID:7881005 HP:0001735 NCIT:C95437 DOID:2913 UMLS:C0001339" -MONDO:0019848 "Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed." "ICD10:Q54.3 ICD10:Q54.2 Orphanet:95706" +MONDO:0016372 "Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases." "Orphanet:221098 GARD:0006519 MedDRA:10018391 DOID:14423 SCTID:43763009 ICD10CM:G52.1 ICD9:352.1 UMLS:C0154731" +MONDO:0006515 "An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs." "Wikipedia:Acute_pancreatitis EFO:1000652 UMLS:C0267941 MESH:D019283 ICD9:577.0 SCTID:7881005 HP:0001735 NCIT:C95437 DOID:2913 UMLS:C0001339" +MONDO:0019848 "Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed." "ICD10CM:Q54.3 ICD10CM:Q54.2 Orphanet:95706" UBERON:0005328 -MONDO:0019111 "Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." "OMIM:187950 ICD10:D75.2 OMIM:601977 SCTID:720950009 Orphanet:71493 OMIM:614521 OMIMPS:187950 OMIM:300331 UMLS:CN205627" +MONDO:0019111 "Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." "OMIM:187950 OMIM:601977 SCTID:720950009 Orphanet:71493 OMIM:614521 OMIMPS:187950 OMIM:300331 UMLS:CN205627" MONDO:0003411 "A hemangiopericytoma arising from the breast." "UMLS:C1511313 NCIT:C40396 DOID:5370" MONDO:0011917 "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene." "OMIM:607832" http://identifiers.org/hgnc/11023 UBERON:0007721 MONDO:0001290 "Inflammation of the small vessels of the skin that is mediated by the immune system." "NCIT:C35119 DOID:11450" HP:0005523 "SNOMEDCT_US:77121009 SNOMEDCT_US:414629003 UMLS:C0024314 MSH:D008232 SNOMEDCT_US:277466009 SNOMEDCT_US:84631004" -MONDO:0002407 "A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells." "DOID:2725 ICD10:Q82.5 ICDO:9131/0 SCTID:56975005 MESH:D018324 UMLS:C0206733 NCIT:C7457" -MONDO:0012061 "Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." "OMIM:608567 MESH:D012804 OMIM:182190 Orphanet:166282 OMIM:163800 ICD10:I49.5 SCTID:233913007 OMIMPS:608567 MESH:C563907 MedDRA:10040639 OMIM:614090" +MONDO:0002407 "A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells." "DOID:2725 ICDO:9131/0 SCTID:56975005 MESH:D018324 UMLS:C0206733 NCIT:C7457" +MONDO:0012061 "Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients." "ICD10CM:I49.5 OMIM:608567 MESH:D012804 OMIM:182190 Orphanet:166282 OMIM:163800 SCTID:233913007 OMIMPS:608567 MESH:C563907 MedDRA:10040639 OMIM:614090" HP:0030159 "Abnormal growth of tissue projecting from a mucous membrane of the endocervix." "UMLS:C0007855 MSH:D002583 SNOMEDCT_US:65576009 UMLS:C0007873 SNOMEDCT_US:123841004" http://identifiers.org/hgnc/14881 MONDO:0014676 "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." "Orphanet:261 DOID:0070248 MESH:C567633 Orphanet:98855 OMIM:616516 UMLS:C2750035" -MONDO:0014503 "Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene." "Orphanet:453521 OMIM:616127 DOID:0080064 ICD10:G11.1 UMLS:C4015301" -MONDO:0017740 "A disease that has its basis in the disruption of protein N-linked glycosylation." "Orphanet:309347 UMLS:CN227187 ICD10:E77.8" -MONDO:0009345 "Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." "ICD10:E70.41 ICD10:E70.8 OMIM:235800 MESH:C538320 Orphanet:2157 DOID:0060168 GARD:0006661 UMLS:C0220992 SCTID:410058007" +MONDO:0014503 "Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene." "Orphanet:453521 ICD10CM:G11.1 OMIM:616127 DOID:0080064 UMLS:C4015301" +MONDO:0017740 "A disease that has its basis in the disruption of protein N-linked glycosylation." "Orphanet:309347 UMLS:CN227187 ICD10CM:E77.8" +MONDO:0009345 "Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions." "ICD10CM:E70.41 OMIM:235800 MESH:C538320 Orphanet:2157 DOID:0060168 ICD10CM:E70.8 GARD:0006661 UMLS:C0220992 SCTID:410058007" MONDO:0016987 "Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." "GARD:0010902 NCIT:C84926 Orphanet:263440 DOID:0050765" -MONDO:0011359 "Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism." "GARD:0002393 OMIM:603671 Orphanet:1827 SCTID:715427008 GARD:0005539 MESH:C566345 UMLS:C1863616 ICD10:Q75.8 DOID:0060342" +MONDO:0011359 "Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism." "GARD:0002393 OMIM:603671 Orphanet:1827 SCTID:715427008 GARD:0005539 MESH:C566345 UMLS:C1863616 ICD10CM:Q75.8 DOID:0060342" UBERON:0012425 -MONDO:0007892 "Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." "Orphanet:2658 MESH:C537115 ICD10:Q87.1 DOID:0111507 OMIM:151050 GARD:0003223" -MONDO:0018016 "Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated." "ICD10:D37.3 UMLS:CN204231 Orphanet:329977" +MONDO:0007892 "Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." "Orphanet:2658 ICD10CM:Q87.1 MESH:C537115 DOID:0111507 OMIM:151050 GARD:0003223" +MONDO:0018016 "Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated." "ICD10CM:D37.3 UMLS:CN204231 Orphanet:329977" MONDO:0024913 "Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus." "MESH:D002418 UMLS:C0007453" http://identifiers.org/hgnc/11022 GO:1902098 "Binding to calcitriol. Calcitriol (1,25-dihydroxycholecalciferol) is the hormonally active form of vitamin D3." -MONDO:0009038 "Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972." "ICD10:Q87.2 SCTID:732250002 Orphanet:1533 MESH:C565665 OMIM:218550 UMLS:C1857492" +MONDO:0009038 "Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972." "SCTID:732250002 ICD10CM:Q87.2 Orphanet:1533 MESH:C565665 OMIM:218550 UMLS:C1857492" MONDO:0030317 "OMIM:619402" -MONDO:0005749 "An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss." "EFO:0007257 DOID:5870 NCIT:C35150 ICD10:J82 UMLS:C1527407" +MONDO:0005749 "An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss." "EFO:0007257 DOID:5870 NCIT:C35150 UMLS:C1527407" CHEBI:57981 "A D-alpha-amino acid zwitterion that is D-phenylalanine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3." MONDO:0032716 "OMIM:618384" -MONDO:0001880 "ICD9:750.19 DOID:14111 SCTID:7522008 ICD10:K14.2 ICD9:529.2" +MONDO:0001880 "ICD9:750.19 DOID:14111 SCTID:7522008 ICD10CM:K14.2 ICD9:529.2" CHEBI:77938 "An organic anion obtained by removal of one of the methylene protons from barbituric acid. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.)." PATO:0001018 "A quality of a physical entity that exists through action of continuants at the physical level of organisation in relation to other entities." -MONDO:0016649 "Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism." "OMIM:615663 OMIM:614222 UMLS:CN158709 ICD10:Q87.0 OMIMPS:600118 OMIM:614225 Orphanet:2510 DOID:0060237 GARD:0005534 OMIM:600118" +MONDO:0016649 "Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism." "OMIM:615663 OMIM:614222 UMLS:CN158709 OMIMPS:600118 OMIM:614225 Orphanet:2510 DOID:0060237 ICD10CM:Q87.0 GARD:0005534 OMIM:600118" MONDO:0002850 "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system." "DOID:4048 UMLS:C1332891 NCIT:C5464" MONDO:0002274 "A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma." "DOID:2346 ICD9:273.1 SCTID:267440005 HP:0031047 NCIT:C35878 UMLS:C0026471" MONDO:0002386 "A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." "UMLS:C1272677 NCIT:C37263 DOID:2678 EFO:1000381" @@ -8107,13 +8102,13 @@ MONDO:0004063 "Iris melanoma characterized by the presence of intermediate cells http://identifiers.org/hgnc/11021 PATO:0001190 "A maturity quality inhering in a bearer by virtue the bearer's being not fully grown or developed." MONDO:0032715 "OMIM:618383" -MONDO:0007507 "Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait." "Orphanet:1658 ICD10:Q82.8 OMIM:129200 GARD:0002336 MESH:C537659 SCTID:239011004" +MONDO:0007507 "Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait." "Orphanet:1658 ICD10CM:Q82.8 OMIM:129200 GARD:0002336 MESH:C537659 SCTID:239011004" http://identifiers.org/hgnc/10923 CHR:9606-chr3q2 -MONDO:0004672 "A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response." "ICD9:121.4 UMLS:C0015656 ICD10:B66.5 DOID:888 SCTID:54266002 NCIT:C128388" +MONDO:0004672 "A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response." "ICD9:121.4 UMLS:C0015656 ICD10CM:B66.5 DOID:888 SCTID:54266002 NCIT:C128388" MONDO:0030318 "OMIM:619405" CHEBI:58945 "An organic phosphoric acid derivative in which one or more oxygen atoms of the phosphate group(s) has been deprotonated." -MONDO:0007472 "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3." "MESH:C563034 DOID:0060746 UMLS:C0730295 OMIM:126700 Orphanet:75376 ICD10:H35.5" +MONDO:0007472 "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3." "MESH:C563034 DOID:0060746 UMLS:C0730295 OMIM:126700 Orphanet:75376" http://identifiers.org/hgnc/3861 http://identifiers.org/hgnc/34016 http://identifiers.org/hgnc/10922 @@ -8125,7 +8120,7 @@ MONDO:0024645 "A benign or malignant neoplasm that affects the retroperitoneum." UBERON:0012423 http://identifiers.org/hgnc/2665 HP:0000230 "Inflammation of the gingiva." "UMLS:C0017574 SNOMEDCT_US:66383009 MSH:D005891" -MONDO:0014512 "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy." "ICD10:G40.4 DOID:0070061 UMLS:C4015357 UMLS:CN237609 OMIM:616158 Orphanet:438216" +MONDO:0014512 "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy." "DOID:0070061 UMLS:C4015357 UMLS:CN237609 OMIM:616158 Orphanet:438216 ICD10CM:G40.4" UBERON:0005323 UBERON:0009022 MONDO:0018558 "Orphanet:434809" @@ -8138,7 +8133,7 @@ CL:0002591 "A smooth muscle of the pulmonary artery." "BTO:0003336" MONDO:0018559 "UMLS:C4305545 Orphanet:435365 SCTID:717752005" http://identifiers.org/hgnc/11027 MONDO:0030316 "OMIM:619401" -MONDO:0000984 "An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." "ICD10:D56 ICD9:282.4 ICD9:282.49 ICD9:282.40 DOID:10241 EFO:1001996 NCIT:C35069 SCTID:40108008 ICD10:D56.9 GARD:0007756 UMLS:C0039730 MESH:D013789" +MONDO:0000984 "An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation." "ICD10CM:D56 ICD9:282.4 ICD9:282.49 ICD9:282.40 DOID:10241 EFO:1001996 NCIT:C35069 SCTID:40108008 GARD:0007756 UMLS:C0039730 MESH:D013789" GO:1902623 "Any process that stops, prevents or reduces the frequency, rate or extent of neutrophil migration." UBERON:0004126 MONDO:0002645 "Inflammation of the cerebrum." "UMLS:C0742115 NCIT:C27199 DOID:3431" @@ -8155,7 +8150,7 @@ MONDO:0032712 "OMIM:618378 DOID:0111466" NCBITaxon:91347 "PMID:27620848 GC_ID:11" UBERON:0006526 GO:0072511 -MONDO:0011934 "Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22)." "ICD10:C49.9 ICDO:8832/3 OMIM:607907 UMLS:C0392784 GARD:0009569 NCIT:C4683 MESH:D018223 DOID:3507 Orphanet:31112 ONCOTREE:DFSP MedDRA:10057070 SCTID:276799004" +MONDO:0011934 "Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22)." "ICD10CM:C49.9 ICDO:8832/3 OMIM:607907 UMLS:C0392784 GARD:0009569 NCIT:C4683 MESH:D018223 DOID:3507 Orphanet:31112 ONCOTREE:DFSP MedDRA:10057070 SCTID:276799004" MONDO:0010260 "OMIM:300158 UMLS:C1846273 MESH:C564574" MONDO:0017358 MONDO:0030312 "OMIM:619389" @@ -8163,12 +8158,12 @@ http://identifiers.org/hgnc/14888 HP:0002345 "A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement." "SNOMEDCT_US:30721006 UMLS:C0234376 MSH:D014202 UMLS:C4020853" UBERON:0009020 NCBITaxon:5073 "GC_ID:1" -MONDO:0006760 "A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death." "ICD10:P55 NCIT:C101304 DOID:1098 MESH:D004899 EFO:1000937 SCTID:387705004 UMLS:C0014761 ICD9:773 ICD10:P55.9 ICD9:773.2" +MONDO:0006760 "A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death." "NCIT:C101304 DOID:1098 MESH:D004899 EFO:1000937 SCTID:387705004 UMLS:C0014761 ICD9:773 ICD9:773.2" GO:0051931 "Any process that modulates the frequency, rate or extent of sensory perception, the series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal." -MONDO:0017315 "Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents." "UMLS:C2930950 ICD10:Q87.8 SCTID:721073008 MESH:C535613 GARD:0000583 Orphanet:2865" +MONDO:0017315 "Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents." "UMLS:C2930950 ICD10CM:Q87.8 SCTID:721073008 MESH:C535613 GARD:0000583 Orphanet:2865" CL:0002275 "A PP cell located in the islets of the pancreas." "BTO:0000805 FMA:70588" MONDO:0019680 "Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign." "Orphanet:93398 SCTID:725904009 UMLS:C4511481 UMLS:CN206604 OMIM:137360" -MONDO:0011831 "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene." "OMIM:607450 Orphanet:217656 MESH:C564400 DOID:0110076 ICD10:I42.8 UMLS:C1843896" +MONDO:0011831 "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene." "OMIM:607450 Orphanet:217656 MESH:C564400 DOID:0110076 UMLS:C1843896" http://identifiers.org/hgnc/2666 GO:0072503 "Any process involved in the maintenance of an internal steady state of divalent cations at the level of a cell." UBERON:0007723 @@ -8185,14 +8180,14 @@ MONDO:0032710 "OMIM:618374" UBERON:0006525 MONDO:0030313 "OMIM:619396" MONDO:0015023 "Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions." "DOID:0110933 OMIM:617336 UMLS:C4479695 UMLS:C4479186 UMLS:CN240509" -MONDO:0005833 "A disease involving the lymphatic part of lymphoid system." "SCTID:362971004 EFO:0007352 DOID:75 NCIT:C50764 MESH:D008206 UMLS:C0024228" +MONDO:0005833 "A disease involving the lymphatic part of lymphoid system." "DOID:75 MESH:D008206 UMLS:C0024228 EFO:0007352 SCTID:362971004 ICD10CM:I80-I89 NCIT:C50764" GO:0033603 "Any process that activates or increases the frequency, rate or extent of the regulated release of dopamine." MONDO:0000780 "OBSOLETE. A allergy involving a Prunus armeniaca." "DOID:0060505" MONDO:0004248 "An ependymoma that arises from the infratentorial region of the brain and occurs during childhood." "DOID:7501 UMLS:C0278599 NCIT:C9041" GO:0002698 "Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune effector process." CL:2000000 "Any melanocyte that is part of a epidermis." NCBITaxon:2743694 "GC_ID:1" -MONDO:0007017 "Detachment of the vitreous humor from the retina." "UMLS:C0042907 SCTID:53772007 MedDRA:10047650 NCIT:C50807 EFO:1001238 ICD10:H43.81 DOID:9726 MESH:D020255" +MONDO:0007017 "Detachment of the vitreous humor from the retina." "UMLS:C0042907 SCTID:53772007 MedDRA:10047650 NCIT:C50807 EFO:1001238 DOID:9726 MESH:D020255" UBERON:0001846 MONDO:0007771 "UMLS:C1835039 Orphanet:79146 Orphanet:280628 DOID:0111373 OMIM:145250 UMLS:C1840392" ENVO:03000009 "A process during which the mass of one or more materials, present within a given site, increases." @@ -8210,17 +8205,17 @@ http://identifiers.org/hgnc/28385 MONDO:0014767 "Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene." "UMLS:C4225212 DOID:0070005 OMIM:616777" MONDO:0003815 CL:0000164 "An endocrine cell that is located in the epithelium of the gastrointestinal tract or in the pancreas." "FMA:62930 BTO:0003865" -MONDO:0007772 "Orphanet:88938 UMLS:C1840389 UMLS:C1449844 ICD10:I15.1 Orphanet:757 OMIM:145260 SCTID:703254001" +MONDO:0007772 "Orphanet:88938 UMLS:C1840389 UMLS:C1449844 Orphanet:757 OMIM:145260 ICD10CM:I15.1 SCTID:703254001" MONDO:0014298 "PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin." "UMLS:C3810282 OMIM:615668 DOID:0060421 Orphanet:439822" MONDO:0014531 "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene." "DOID:0060355 UMLS:C4015512 OMIM:616208 Orphanet:803" GO:0001959 "Any process that modulates the frequency, rate or extent of the cytokine mediated signaling pathway." http://identifiers.org/hgnc/9990 HP:0008047 "UMLS:C4024752" -MONDO:0010915 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene." "ICD10:H90.3 MESH:C563460 UMLS:C1833503 DOID:0110573 OMIM:600652" +MONDO:0010915 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene." "MESH:C563460 UMLS:C1833503 DOID:0110573 OMIM:600652" http://identifiers.org/hgnc/7594 -MONDO:0015769 "Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay." "SCTID:722430008 ICD10:Q92.3 UMLS:C4302551 Orphanet:1745" +MONDO:0015769 "Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay." "SCTID:722430008 UMLS:C4302551 Orphanet:1745" MONDO:0019104 "Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia." "MESH:C537234 NCIT:C113397 MedDRA:10066142 GARD:0009684 SCTID:230314007 UMLS:C0338465 Orphanet:71272" -MONDO:0011059 "Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features." "GARD:0002454 OMIM:601370 Orphanet:2163 ICD10:Q04.2 SCTID:715434005 UMLS:C1832424 MESH:C537684" +MONDO:0011059 "Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features." "ICD10CM:Q04.2 GARD:0002454 OMIM:601370 Orphanet:2163 SCTID:715434005 UMLS:C1832424 MESH:C537684" UBERON:0018707 MONDO:0001749 "A senile cataract that involves the lens cortex." "ICD9:366.15 DOID:13574 SCTID:78875003 UMLS:C0154980" HP:0000370 "An abnormality of the middle ear." "UMLS:C1861141" @@ -8234,19 +8229,19 @@ MONDO:0005378 http://identifiers.org/hgnc/26821 MONDO:0002569 "Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation." "MESH:D013271 DOID:3229 UMLS:C0038353" MONDO:0013976 "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene." "OMIM:614931 UMLS:C3554127 DOID:0111656 Orphanet:69084" -MONDO:0001347 "An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well." "Orphanet:269 SCTID:399091004 ICD10:G71.0 MESH:D020391 OMIM:158900 OMIM:600416 MedDRA:10064087 NCIT:C84704 OMIM:158901 DOID:11727 OMIMPS:158900" +MONDO:0001347 "An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well." "Orphanet:269 SCTID:399091004 MESH:D020391 OMIM:158900 OMIM:600416 MedDRA:10064087 NCIT:C84704 OMIM:158901 DOID:11727 ICD10CM:G71.0 OMIMPS:158900" ECTO:4000026 "A exposure event involving the interaction of an exposure receptor to decreased pressure." CHEBI:33304 "Any p-block molecular entity containing a chalcogen." http://identifiers.org/hgnc/17318 -MONDO:0009950 "Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." "NCIT:C99037 SCTID:124331002 ICD10:D55.2 MESH:C564858 GARD:0007514 DOID:0111077 Orphanet:766 UMLS:C0340968 OMIM:266200" +MONDO:0009950 "Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." "NCIT:C99037 SCTID:124331002 MESH:C564858 GARD:0007514 ICD10CM:D55.2 DOID:0111077 Orphanet:766 UMLS:C0340968 OMIM:266200" MONDO:0006575 GO:1904803 "Any regulation of translation that is involved in cellular response to UV." -MONDO:8000008 "This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism." "Orphanet:1387 MESH:C536028 SCTID:722380003 UMLS:C0796037 GARD:0003406 ICD10:Q87.8 DOID:0111586 OMIM:212720" +MONDO:8000008 "This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism." "Orphanet:1387 MESH:C536028 SCTID:722380003 ICD10CM:Q87.8 UMLS:C0796037 GARD:0003406 DOID:0111586 OMIM:212720" HP:0000360 "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." "UMLS:C0040264 SNOMEDCT_US:162352007 SNOMEDCT_US:60862001 SNOMEDCT_US:162349004 MSH:D014012" HP:0010525 "An inability or difficulty differentiating among the fingers of either hand as well as the hands of others." "SNOMEDCT_US:3449007 MSH:D000377 UMLS:C0234509" UBERON:0004341 PATO:0002287 "An elasticity which is relatively high." -MONDO:0009921 "Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13." "ICD10:Q87.8 SCTID:716091000 MESH:C535829 UMLS:C1849649 NCIT:C125418 GARD:0000344 OMIM:264480 Orphanet:2166" +MONDO:0009921 "Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13." "SCTID:716091000 MESH:C535829 UMLS:C1849649 NCIT:C125418 ICD10CM:Q87.8 GARD:0000344 OMIM:264480 Orphanet:2166" GO:0071900 "Any process that modulates the rate, frequency, or extent of protein serine/threonine kinase activity." MONDO:0003741 "A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells." "UMLS:C1515285 NCIT:C39947 UMLS:C0334403 DOID:6032" MONDO:0004336 "An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population." "UMLS:C0279654 DOID:7707 NCIT:C9168" @@ -8256,24 +8251,24 @@ NCBITaxon:6274 "GC_ID:1" CHEBI:83970 "Steroid lactones containing sugar residues that act on the contractile force of the cardiac muscles." CHEBI:38975 "Any alkylbenzene that is benzene substituted with one or more methyl groups." MONDO:0006310 -MONDO:0011500 "Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual." "UMLS:C1858042 ICD10:D22.5 MESH:C565735 OMIM:604919 Orphanet:64755 UMLS:C0263579 GARD:0003856" +MONDO:0011500 "Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual." "UMLS:C1858042 MESH:C565735 ICD10CM:D22.5 OMIM:604919 Orphanet:64755 UMLS:C0263579 GARD:0003856" MONDO:0004179 GO:1905953 "Any process that stops, prevents or reduces the frequency, rate or extent of lipid localization." MONDO:0002917 "A disease that involves the pilosebaceous unit." "UMLS:C0018500 UMLS:C0554472 DOID:421 ICD9:704.8 SCTID:201128002 ICD9:704.9 MESH:D006201 NCIT:C34656" GO:0090066 "Any process that modulates the size of an anatomical structure." http://identifiers.org/hgnc/8790 FOODON:00002381 "A food product consisting of food material derived primarily from a single organism."@en -MONDO:0010554 "Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis." "GARD:0000360 OMIM:302905 Orphanet:921 SCTID:718574003 ICD10:Q87.8 UMLS:C1844862 MESH:C535559" -MONDO:0007915 "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." "OMIM:612378 OMIM:612253 ICD10:M32.1 OMIM:610927 OMIM:152700 OMIM:614420 OMIM:608437 DOID:9074 OMIM:605480 OMIM:609903 OMIM:613145 OMIM:610065 ICD9:710.0 KEGG:05322 Orphanet:536 OMIM:601744 OMIM:612254 ICD10:M32.8 ICD10:M32 OMIM:300809 OMIM:612251 OMIM:605218 OMIM:610066 OMIM:609939 MESH:D008180 ICD10:M32.0 ICD10:M32.9 HP:0002725 SCTID:55464009 NCIT:C3201 EFO:0002690" +MONDO:0010554 "Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis." "GARD:0000360 OMIM:302905 ICD10CM:Q87.8 Orphanet:921 SCTID:718574003 UMLS:C1844862 MESH:C535559" +MONDO:0007915 "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." "OMIM:612378 OMIM:612253 OMIM:610927 OMIM:152700 OMIM:614420 OMIM:608437 DOID:9074 OMIM:605480 OMIM:609903 OMIM:613145 OMIM:610065 ICD9:710.0 KEGG:05322 Orphanet:536 OMIM:601744 OMIM:612254 OMIM:300809 OMIM:612251 OMIM:605218 OMIM:610066 OMIM:609939 MESH:D008180 HP:0002725 SCTID:55464009 NCIT:C3201 EFO:0002690" http://identifiers.org/hgnc/1492 http://identifiers.org/hgnc/18518 MONDO:0005073 "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin." "EFO:0000625 NCIT:C7570 Wikipedia:Nevus MESH:D009506 OMIM:162900 SCTID:400096001" GO:1900248 "Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational elongation." CL:0002200 "An oncocyte located in the thyroid." "FMA:87169" -MONDO:0000920 "A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma." "NCIT:C4803 DOID:10021 SCTID:254570009 MESH:D004379 ICD10:C17.0 NCIT:C9328 ICD9:152.0 SCTID:363403002" +MONDO:0000920 "A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma." "NCIT:C4803 DOID:10021 SCTID:254570009 MESH:D004379 NCIT:C9328 ICD9:152.0 SCTID:363403002" MONDO:0000218 "UMLS:CN282827 OMIMPS:616814" NCBITaxon:12059 "GC_ID:1" -MONDO:0001555 "A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins." "ICD10:P72.1 SCTID:13795004 DOID:12573 NCIT:C114906 UMLS:C0158983 ICD9:775.3" +MONDO:0001555 "A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins." "SCTID:13795004 DOID:12573 NCIT:C114906 UMLS:C0158983 ICD9:775.3" MONDO:0004837 "A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells." "UMLS:C1333463 NCIT:C5704 DOID:961" http://identifiers.org/hgnc/11480 MONDO:0014329 "Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene." "Orphanet:1344 UMLS:C3810401 OMIM:615745" @@ -8291,35 +8286,35 @@ MONDO:0005434 "The response of human skin to sun exposure." "EFO:0004795" NCBITaxon:12058 "GC_ID:1" GO:0048332 "The process in which the anatomical structures of the mesoderm are generated and organized." MONDO:0006539 "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy." "DOID:3923 NCIT:C6504 UMLS:C1333298 EFO:1000687" -MONDO:0012978 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene." "ICD10:Q34.8 MESH:C567212 OMIM:612649 DOID:0110602 UMLS:C2675229" +MONDO:0012978 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene." "MESH:C567212 OMIM:612649 DOID:0110602 UMLS:C2675229" http://identifiers.org/hgnc/989 MONDO:0000216 MONDO:0008971 "UMLS:C1859147 GARD:0010613 OMIM:215050 MESH:C565855" -MONDO:0017668 "Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome." "ICD10:Q87.8 UMLS:CN203552 Orphanet:3074 GARD:0003514" +MONDO:0017668 "Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome." "UMLS:CN203552 Orphanet:3074 ICD10CM:Q87.8 GARD:0003514" http://identifiers.org/hgnc/6391 http://identifiers.org/hgnc/1494 GO:1903303 "Any process that stops, prevents or reduces the frequency, rate or extent of pyruvate kinase activity." UBERON:0001840 UBERON:0001844 -MONDO:0001920 "Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane." "UMLS:C0271454 ICD10:H66.3 DOID:14247 NCIT:C128386 ICD9:382.3 SCTID:38394007" -MONDO:0011972 "A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries." "MedDRA:10033266 DOID:5425 OMIM:608115 SCTID:129635004 Orphanet:64739 MESH:D016471 ICD10:N98.1 UMLS:C0085083 ICD9:256.1" +MONDO:0001920 "Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane." "UMLS:C0271454 DOID:14247 NCIT:C128386 ICD9:382.3 SCTID:38394007" +MONDO:0011972 "A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries." "MedDRA:10033266 DOID:5425 OMIM:608115 SCTID:129635004 Orphanet:64739 MESH:D016471 UMLS:C0085083 ICD9:256.1" MONDO:0001679 "ICD9:377.22 DOID:13295" MONDO:0019283 "A epidermal appendage anomaly that involves the nail." "MedDRA:10028684 Orphanet:79368" MONDO:0024561 "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." "UMLS:C1842914 OMIM:608161 Orphanet:99000" -MONDO:0016497 "Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal." "UMLS:CN201500 Orphanet:231445 ICD10:G61.0" +MONDO:0016497 "Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal." "UMLS:CN201500 Orphanet:231445 ICD10CM:G61.0" http://identifiers.org/hgnc/1497 http://identifiers.org/hgnc/23228 MONDO:0000215 GO:0009719 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism." MONDO:0005584 "Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth." "OMIM:241550 EFO:0005938 OMIM:614435" -MONDO:0007988 "Autosomal dominant form of microcephaly (disease)." "MESH:C537323 OMIM:616311 Orphanet:2514 OMIM:156580 UMLS:C4755316 DOID:14725 GARD:0003605 ICD10:Q02" +MONDO:0007988 "Autosomal dominant form of microcephaly (disease)." "MESH:C537323 OMIM:616311 Orphanet:2514 ICD10CM:Q02 OMIM:156580 UMLS:C4755316 DOID:14725 GARD:0003605" GO:0032275 "The regulated release of luteinizing hormone, a gonadotropic glycoprotein hormone secreted by the anterior pituitary." -MONDO:0001412 "DOID:11988 ICD10:H11.12 ICD9:372.54 SCTID:13706005" +MONDO:0001412 "SCTID:13706005 ICD9:372.54 DOID:11988" MONDO:0007770 "OMIM:145200 UMLS:C1840393 MESH:C564164" -MONDO:0002912 "A primary or metastatic malignant neoplasm that affects the brain stem." "ICD9:191.7 MESH:D020295 GARD:0008244 ICD10:C71.7 DOID:4203 UMLS:C1332192 SCTID:363473003 NCIT:C4869 NCIT:C3570 NCIT:C5967" +MONDO:0002912 "A primary or metastatic malignant neoplasm that affects the brain stem." "ICD9:191.7 MESH:D020295 GARD:0008244 DOID:4203 UMLS:C1332192 SCTID:363473003 NCIT:C4869 NCIT:C3570 NCIT:C5967" CHEBI:26188 "Natural and synthetic compounds containing alternating carbonyl and methylene groups ('beta-polyketones'), biogenetically derived from repeated condensation of acetyl coenzyme A (via malonyl coenzyme A), and usually the compounds derived from them by further condensations, etc. Considered by many to be synonymous with the less frequently used terms acetogenins and ketides." MONDO:0018759 "UMLS:CN776870 Orphanet:466921" -MONDO:0016562 "PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." "UMLS:CN226961 Orphanet:240094 ICD10:G23.1" +MONDO:0016562 "PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." "ICD10CM:G23.1 UMLS:CN226961 Orphanet:240094" http://identifiers.org/hgnc/987 MONDO:0002611 MONDO:0004175 "UMLS:C1513711 DOID:7293 NCIT:C8717" @@ -8333,7 +8328,7 @@ HP:0002047 "Malignant hyperthermia is characterized by a rapid increase in tempe MONDO:0007513 "UMLS:C1851850 Orphanet:3391 MESH:C538015 OMIM:129550" GO:0043170 "The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass." MONDO:0100240 "An instance of thrombophilia that is inherited." "OMIMPS:188050 OMIM:614486 OMIM:188050" -MONDO:0021723 "Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection." "UMLS:C2004487 NCIT:C78703 ICD10:N94.2 MESH:D052065" +MONDO:0021723 "Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection." "UMLS:C2004487 NCIT:C78703 MESH:D052065 ICD10CM:N94.2" http://identifiers.org/hgnc/6138 http://identifiers.org/hgnc/986 MONDO:0008976 "OMIM:215250 UMLS:C1859104 MESH:C565852" @@ -8341,19 +8336,19 @@ HP:0030764 "Brown or blue-gray discoloration of the skin that can present on the NCBITaxon:201174 "PMID:16280504 GC_ID:11 PMID:11837318 PMID:29458499 PMID:26654112" MONDO:0012459 "OMIM:610262" GO:0019212 "Binds to and stops, prevents or reduces the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule." -MONDO:0011003 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene." "Orphanet:154 ICD10:I42.0 GARD:0005644 UMLS:C1832680 MESH:C563384 DOID:0110433 OMIM:601154" +MONDO:0011003 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene." "Orphanet:154 GARD:0005644 UMLS:C1832680 MESH:C563384 ICD10CM:I42.0 DOID:0110433 OMIM:601154" MONDO:0006315 "EFO:1000392 NCIT:C37005" -MONDO:0019959 "Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms." "SCTID:16424000 ICD10:E16.8 GARD:0002496 EFO:1000441 Orphanet:97280 UMLS:C0017689 NCIT:C95597 MESH:D005935 MedDRA:10018404" -MONDO:0011198 "Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." "SCTID:719171005 Orphanet:93356 ICD10:Q77.7 Orphanet:1040 OMIM:602111 DOID:0080030 GARD:0010618" +MONDO:0019959 "Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms." "SCTID:16424000 ICD10CM:E16.8 GARD:0002496 EFO:1000441 Orphanet:97280 UMLS:C0017689 NCIT:C95597 MESH:D005935 MedDRA:10018404" +MONDO:0011198 "Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." "SCTID:719171005 Orphanet:93356 ICD10CM:Q77.7 Orphanet:1040 OMIM:602111 DOID:0080030 GARD:0010618" http://identifiers.org/hgnc/8533 MONDO:0005286 "A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula." "MESH:D010157 SCTID:126805009 UMLS:C0030215 EFO:0003849 NCIT:C4402" IAO:8000013 "An ontology module that contains axioms generated by a reasoner. The generated axioms are typically direct SubClassOf axioms, but other possibilities are available."@en MONDO:0003847 "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." "MESH:D030342 ICD9:799.89 DOID:630 NCIT:C3101 UMLS:C0019247 SCTID:32895009 EFO:0000508" MONDO:0004337 "Paget disease involving the perianal skin." "DOID:7708 UMLS:C1332270 NCIT:C7476" GO:0030879 "The process whose specific outcome is the progression of the mammary gland over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. Its development starts with the formation of the mammary line and ends as the mature gland cycles between nursing and weaning stages." -MONDO:0009157 "Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene." "UMLS:C2749665 MESH:C567616 Orphanet:2440 OMIM:225300 ICD10:Q71.6 UMLS:C0265554 DOID:0090026" +MONDO:0009157 "Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene." "UMLS:C2749665 MESH:C567616 Orphanet:2440 OMIM:225300 UMLS:C0265554 DOID:0090026" http://identifiers.org/hgnc/6137 -MONDO:0001443 "The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing." "MESH:D063371 SCTID:23606001 ICD10:H74.0 ICD9:385.09 DOID:1214 ICD9:385.00" +MONDO:0001443 "The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing." "MESH:D063371 SCTID:23606001 ICD9:385.09 ICD10CM:H74.0 DOID:1214 ICD9:385.00" MONDO:0002427 "Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia." "SCTID:223176004 MESH:D002526 DOID:2786 UMLS:C0007760" MONDO:0015076 "OBSOLETE. Any of the forms of tumor of parathyroid gland that have a rare incidence." "Orphanet:100090" ECTO:0000485 "An exposure to biological role." @@ -8365,8 +8360,8 @@ MONDO:0002541 "A oligodendroglioma that involves the spinal cord." "DOID:3184 UM HP:0003674 "The age group in which disease manifestations appear." "UMLS:C0206132 MSH:D017668" MONDO:0014857 "Orphanet:494344 UMLS:C4310772 OMIM:616975" MONDO:0011792 "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene." "OMIM:607200 UMLS:C1846632 MESH:C564608 Orphanet:95716" -MONDO:0013659 "UMLS:C3280296 SCTID:703369003 OMIM:614261 Orphanet:294016 ICD10:Q87.8 ICD9:759.89" -MONDO:0015925 "A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." "MESH:D017563 EFO:0004244 DOID:3082 UMLS:C0206062 MedDRA:10022611 SCTID:233703007 GARD:0013336 Orphanet:182095 ICD10:J84.9" +MONDO:0013659 "UMLS:C3280296 SCTID:703369003 OMIM:614261 Orphanet:294016 ICD10CM:Q87.8 ICD9:759.89" +MONDO:0015925 "A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features." "MESH:D017563 EFO:0004244 DOID:3082 ICD10CM:J80-J84 UMLS:C0206062 MedDRA:10022611 SCTID:233703007 GARD:0013336 Orphanet:182095" http://identifiers.org/hgnc/30578 MONDO:0007515 "HP:0009918 MESH:C536185 SCTID:193523008 GARD:0008490 OMIM:129750" PATO:0002096 "A disposition inhering in a tumour by virtue of the bearer's disposition not to progress, invade surrounding tissues or metastasize." @@ -8377,11 +8372,11 @@ CL:0001068 "A group 1 innate lymphoid cell that is non-cytotoxic." MONDO:0004505 "A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge." "DOID:8224 UMLS:C1332896 NCIT:C36087" http://identifiers.org/hgnc/12417 http://identifiers.org/hgnc/11219 -MONDO:0012180 "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene." "ICD10:I42.8 Orphanet:217656 OMIM:609040 MESH:C563808 DOID:0110077 UMLS:C1836906" +MONDO:0012180 "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene." "UMLS:C1836906 Orphanet:217656 OMIM:609040 MESH:C563808 DOID:0110077" http://identifiers.org/hgnc/16378 GO:0006939 "A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length." MONDO:0007516 "UMLS:C1851849 OMIM:129810 Orphanet:1888 MESH:C565065" -MONDO:0018006 "Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles." "Orphanet:329478 UMLS:CN204218 ICD10:G71.0" +MONDO:0018006 "Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles." "ICD10CM:G71.0 Orphanet:329478 UMLS:CN204218" MONDO:0004802 "A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents." "ICD9:518.3 MESH:D011657 DOID:9498 UMLS:C0034068 SCTID:367542003" MONDO:0021402 "A polyp that involves the external acoustic meatus." "NCIT:C4366 SCTID:95211004 UMLS:C0339765" SO:0000655 "An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product." @@ -8397,29 +8392,29 @@ UBERON:0016566 MONDO:0010393 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene." "OMIM:300659 MESH:C567066 UMLS:C1970841" UBERON:0035662 MONDO:0007775 "GARD:0009593 OMIM:145295 MESH:C536845 UMLS:C1840387" -MONDO:0017400 "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated." "ICD10:Q45.8 Orphanet:293864 OMIM:615710 UMLS:C2748662" +MONDO:0017400 "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated." "Orphanet:293864 ICD10CM:Q45.8 OMIM:615710 UMLS:C2748662" MONDO:0004562 "A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation." "UMLS:C1332315 NCIT:C5140 DOID:8428" -MONDO:0007392 "Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981." "GARD:0001558 SCTID:732248005 MESH:C565148 OMIM:122780 UMLS:C1852513 ICD10:Q87.1 Orphanet:1508" +MONDO:0007392 "Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981." "GARD:0001558 SCTID:732248005 MESH:C565148 OMIM:122780 UMLS:C1852513 ICD10CM:Q87.1 Orphanet:1508" http://identifiers.org/hgnc/24682 MONDO:0006390 "A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells." "EFO:1000499 ONCOTREE:PRSCC SCTID:396198006 UMLS:C1300585 DOID:7141 NCIT:C6766" MONDO:0009912 "MESH:C564870 OMIM:264120 UMLS:C1849698" HP:0012888 "An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix." "UMLS:C4022694" -MONDO:0001039 "Inflammation of the tonsillar tissue." "NCIT:C116006 ICD10:J35.01 UMLS:C0040425 MESH:D014069 UMLS:C0149517 DOID:10456 ICD9:474.00 SCTID:90979004" +MONDO:0001039 "Inflammation of the tonsillar tissue." "NCIT:C116006 UMLS:C0040425 MESH:D014069 UMLS:C0149517 ICD10CM:J35.01 DOID:10456 ICD9:474.00 SCTID:90979004" GO:1900387 "OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in negative regulation of cell-cell adhesion." MONDO:0022236 "Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken." "GARD:0010008 SCTID:253160006 MESH:C535973" MONDO:0009911 "MESH:C562708 SCTID:67873006 OMIM:264110 ICD9:253.4" -MONDO:0019569 "Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8." "NCIT:C135725 UMLS:C0751039 Orphanet:191 ICD10:Q87.8 Orphanet:90324 Orphanet:90322 GARD:0001415 OMIM:133540 Orphanet:90321 OMIM:216400" +MONDO:0019569 "Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8." "NCIT:C135725 UMLS:C0751039 Orphanet:191 Orphanet:90324 Orphanet:90322 ICD10CM:Q87.8 OMIM:133540 GARD:0001415 Orphanet:90321 OMIM:216400" MONDO:0009078 -MONDO:0009831 "A malignant neoplasm involving the pancreas." "SCTID:126859007 ICD10:C25.9 MESH:D010190 NCIT:C9005 ICD9:157.0 UMLS:C0235974 ICD9:157.1 Orphanet:1333 ICD9:157.2 EFO:1000359 ICD9:157.8 DOID:1793 KEGG:05212" +MONDO:0009831 "A malignant neoplasm involving the pancreas." "ICD9:157.0 EFO:1000359 Orphanet:1333 UMLS:C0235974 KEGG:05212 ICD9:157.2 ICD9:157.1 NCIT:C9005 DOID:1793 SCTID:126859007 ICD9:157.8 MESH:D010190" NCBITaxon:2497569 "GC_ID:1" -MONDO:0000919 "A primary or metastatic malignant neoplasm involving the ampulla of Vater." "UMLS:C0153454 ICD9:156.2 NCIT:C3536 SCTID:363417006 DOID:10020 ICD10:C24.1" +MONDO:0000919 "A primary or metastatic malignant neoplasm involving the ampulla of Vater." "UMLS:C0153454 ICD9:156.2 NCIT:C3536 SCTID:363417006 DOID:10020" GO:0033684 "Any process that modulates the frequency, rate or extent of the regulated release of luteinizing hormone." -MONDO:0007983 "Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait." "ICD10:Q78.5 MESH:C537352 GARD:0007029 SCTID:29248006 DOID:0080021 OMIM:156500 Orphanet:174" +MONDO:0007983 "Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait." "ICD10CM:Q78.5 MESH:C537352 GARD:0007029 SCTID:29248006 DOID:0080021 OMIM:156500 Orphanet:174" UBERON:1000011 HP:0002912 "Increased concentration of methylmalonic acid in the blood." "SNOMEDCT_US:42393006 MSH:C537358 UMLS:C0268583" ENVO:00003082 "A portion of enriched soil is a portion of soil with elevated levels of some material entity." -MONDO:0011838 "A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted." "SCTID:715647007 OMIM:607475 UMLS:C1843816 DOID:0050683 MESH:C564392 Orphanet:85128 ICD10:H35.5" -MONDO:0007956 "Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." "Orphanet:1993 MESH:C536135 SCTID:722201004 GARD:0003439 OMIM:155145 UMLS:C1835087 ICD10:Q87.8" +MONDO:0011838 "A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted." "SCTID:715647007 OMIM:607475 UMLS:C1843816 DOID:0050683 MESH:C564392 ICD10CM:H35.5 Orphanet:85128" +MONDO:0007956 "Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." "Orphanet:1993 MESH:C536135 SCTID:722201004 GARD:0003439 OMIM:155145 UMLS:C1835087 ICD10CM:Q87.8" MONDO:8000001 "Discitis caused by infection with Staphylococcus." MONDO:0002919 "A meningioma that affects the posterior cranial fossa." "DOID:4211 UMLS:C1335448 NCIT:C6775" MONDO:0007777 "MESH:C564157 OMIM:145350 UMLS:C1840385" @@ -8427,15 +8422,15 @@ MONDO:0009077 "UMLS:C1857348 MESH:C565649 OMIM:220300" GO:0043086 "Any process that stops or reduces the activity of an enzyme." MONDO:0054741 "OMIM:617872 DOID:0111497" GO:0000050 "The sequence of reactions by which arginine is synthesized from ornithine, then cleaved to yield urea and regenerate ornithine. The overall reaction equation is NH3 + CO2 + aspartate + 3 ATP + 2 H2O = urea + fumarate + 2 ADP + 2 phosphate + AMP + diphosphate." -MONDO:0018274 "GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications." "UMLS:CN204860 ICD10:E77.8 Orphanet:171714 Orphanet:370933 SCTID:722762005 DOID:0060470 GARD:0012059 Orphanet:370938 UMLS:C1836824 OMIM:609056" -MONDO:0013990 "A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." "UMLS:C3554209 SCTID:718611007 DOID:0060277 Orphanet:324569 OMIM:614961 ICD10:Q04.3" +MONDO:0018274 "GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications." "UMLS:CN204860 Orphanet:171714 Orphanet:370933 SCTID:722762005 DOID:0060470 ICD10CM:E77.8 GARD:0012059 Orphanet:370938 UMLS:C1836824 OMIM:609056" +MONDO:0013990 "A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." "UMLS:C3554209 SCTID:718611007 ICD10CM:Q04.3 DOID:0060277 Orphanet:324569 OMIM:614961" CL:0000242 "A modified epidermal cell located in the stratum basale. They are found mostly in areas where sensory perception is acute. Merkel cells are closely associated with an expanded terminal bulb of an afferent myelinated nerve fiber." "FMA:70548" MONDO:0010820 "A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia." "OMIM:600116 Orphanet:2828 GARD:0009642 DOID:0060368 UMLS:C1868675 MESH:D020734" http://identifiers.org/hgnc/7595 -MONDO:0007640 "A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." "SCTID:193410003 DOID:0090114 ICD10:H35.5 Orphanet:59181 OMIM:264420 GARD:0010511 MESH:C564992 OMIM:136900" -MONDO:0018875 "Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." "ICD9:V84.01 OMIM:609266 OMIM:151623 SCTID:428850001 OMIM:609265 GARD:0006902 OMIMPS:151623 MESH:D016864 Orphanet:524 NCIT:C3476 UMLS:C0085390 DOID:3012 MedDRA:10066795 ICD10:D48.9" +MONDO:0007640 "A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." "SCTID:193410003 ICD10CM:H35.5 DOID:0090114 Orphanet:59181 OMIM:264420 GARD:0010511 MESH:C564992 OMIM:136900" +MONDO:0018875 "Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC)." "ICD9:V84.01 OMIM:609266 OMIM:151623 SCTID:428850001 OMIM:609265 GARD:0006902 OMIMPS:151623 MESH:D016864 Orphanet:524 NCIT:C3476 UMLS:C0085390 DOID:3012 MedDRA:10066795 ICD10CM:D48.9" MONDO:0003817 -MONDO:0004701 "A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection." "DOID:9042 UMLS:C0156369 ICD10:N84.0 SCTID:11314008 ICD9:621.0 NCIT:C3662" +MONDO:0004701 "A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection." "DOID:9042 UMLS:C0156369 SCTID:11314008 ICD9:621.0 NCIT:C3662 ICD10CM:N84.0" NCBITaxon:1851469 "GC_ID:1" MONDO:0100306 "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation." GO:0010795 "Any process that modulates the frequency, rate or extent of ubiquinone biosynthesis. Ubiquinone biosynthesis consists of the chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme." @@ -8445,10 +8440,10 @@ MONDO:0004543 "A yolk sac tumor that arises from the testis and is characterized MONDO:0002549 "A schwannoma that involves the hypoglossal nerve." "DOID:3197 NCIT:C5434 UMLS:C1335928" http://identifiers.org/hgnc/8794 CHEBI:32486 "An optically active form of phenylalaninate having L-configuration." -MONDO:0017844 "Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells)." "ONCOTREE:SS UMLS:C0036920 MedDRA:10040493 GARD:0007629 ICD9:202.2 NCIT:C3366 Orphanet:3162 DOID:8541 ICD10:C84.1 SCTID:118611004 EFO:1000785 MESH:D012751 ICDO:9701/3 ICD10:C84.10 MedDRA:10040500" +MONDO:0017844 "Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells)." "ONCOTREE:SS UMLS:C0036920 MedDRA:10040493 GARD:0007629 ICD9:202.2 NCIT:C3366 Orphanet:3162 DOID:8541 SCTID:118611004 EFO:1000785 MESH:D012751 ICDO:9701/3 MedDRA:10040500 ICD10CM:C84.1" GO:0044255 "The chemical reactions and pathways involving lipids, as carried out by individual cells." -MONDO:0015631 "Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII)." "SCTID:359732009 OMIM:613554 UMLS:C1282975 Orphanet:166093 NCIT:C131689 ICD10:D68.0" -MONDO:0002877 "A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma." "NCIT:C36097 UMLS:C1332917 SCTID:764951002 UMLS:CN201068 DOID:4112 ICD10:C53 Orphanet:213787 UMLS:C1516420" +MONDO:0015631 "Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII)." "SCTID:359732009 OMIM:613554 UMLS:C1282975 Orphanet:166093 NCIT:C131689 ICD10CM:D68.0" +MONDO:0002877 "A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma." "ICD10CM:C53 NCIT:C36097 UMLS:C1332917 SCTID:764951002 UMLS:CN201068 DOID:4112 Orphanet:213787 UMLS:C1516420" MONDO:0010916 "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene." "DOID:0110860 Orphanet:730 UMLS:C3887964 OMIM:600666" HP:0003552 "A condition in which muscles cannot be moved quickly without accompanying pain or spasm." "UMLS:C0221170 SNOMEDCT_US:16046003" MONDO:0002254 "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition." "UMLS:C0039082 SCTID:64572001 DOID:225 NCIT:C28193 OGMS:0000086 MESH:D013577" @@ -8465,12 +8460,12 @@ MONDO:0007509 "GARD:0002048 UMLS:C3888065 Orphanet:1810 OMIM:129490 DOID:011166 MONDO:0011254 "OMIM:602561 MESH:C566521 UMLS:C1865182" MONDO:0032928 "OMIM:618806" MONDO:0012451 "Orphanet:73247 OMIM:610247 UMLS:C0341106" -MONDO:0015775 "Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission." "Orphanet:176 ICD10:Q77.3" +MONDO:0015775 "Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission." "Orphanet:176 ICD10CM:Q77.3" HP:0000177 "An abnormality of the upper lip." "UMLS:C4025884" CHEBI:77425 "An EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor that interferes with the action of prostaglandin-F synthase (EC 1.1.1.188)." http://identifiers.org/hgnc/19747 -MONDO:0002684 "A choroid plexus papilloma characterized by increased mitotic activity." "ICD10:C71.5 NCIT:C53686 UMLS:C1266176 Orphanet:251902 ONCOTREE:ACPP ICDO:9390/1 DOID:3544" -MONDO:0017562 "Orphanet:295234 ICD10:Q74.1" +MONDO:0002684 "A choroid plexus papilloma characterized by increased mitotic activity." "NCIT:C53686 UMLS:C1266176 Orphanet:251902 ONCOTREE:ACPP ICDO:9390/1 DOID:3544 ICD10CM:C71.5" +MONDO:0017562 "Orphanet:295234 ICD10CM:Q74.1" CHEBI:39022 "A complex in which one component (the host) forms a cavity or, in the case of a crystal, a crystal lattice containing spaces in the shape of long tunnels or channels in which molecular entities of a second chemical species (the guest) are located. There is no covalent bonding between guest and host, the attraction being generally due to van der Waals forces." GO:2000383 "Any process that modulates the frequency, rate or extent of ectoderm development." NCBITaxon:318478 "GC_ID:1" @@ -8479,24 +8474,24 @@ MONDO:0005253 "High-output heart failure is a heart condition that occurs when t MONDO:0018761 "UMLS:CN242100 Orphanet:466962 DOID:0080532" MONDO:0016101 "A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye." "UMLS:C0024793 SCTID:766752000 Orphanet:206586 MESH:D008380 GARD:0006974" CL:1000427 "A chromaffin cell that is part of the adrenal cortex." "FMA:69795" -MONDO:0018949 "Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." "SCTID:58795000 Orphanet:399086 OMIM:607569 NCIT:C84675 OMIM:160500 UMLS:C0751336 OMIM:254130 OMIM:614321 OMIM:160300 OMIM:610099 OMIM:613318 OMIM:606768 OMIM:613319 Orphanet:63273 OMIM:614065 Orphanet:59135 DOID:11720 Orphanet:599 ICD10:G71.0 Orphanet:399096" +MONDO:0018949 "Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." "SCTID:58795000 Orphanet:399086 OMIM:607569 NCIT:C84675 OMIM:160500 UMLS:C0751336 OMIM:254130 OMIM:614321 OMIM:160300 ICD10CM:G71.0 OMIM:610099 OMIM:613318 OMIM:606768 OMIM:613319 Orphanet:63273 OMIM:614065 Orphanet:59135 DOID:11720 Orphanet:599 Orphanet:399096" MONDO:0054730 "OMIM:617961 UMLS:CN244573" UBERON:5101466 MONDO:0032927 "OMIM:618805" -MONDO:0007792 "A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13." "Orphanet:405 UMLS:C1840347 OMIM:145981 DOID:0060701 GARD:0009758 ICD10:E83.5 MESH:C537146 Orphanet:101049" -MONDO:0001266 "An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch." "HP:0001055 MESH:D004886 SCTID:44653001 EFO:1001462 ICD10:A46 DOID:11330 GARD:0006370 ICD9:035 UMLS:C0014733" -MONDO:0015262 "Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." "ICD9:756.19 OMIM:271630 SCTID:254088006 OMIM:271530 MESH:C537098 GARD:0010903 OMIM:613678 DOID:0050690 Orphanet:1293 UMLS:C0432228 OMIM:113500 ICD10:Q76.3" +MONDO:0007792 "A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13." "Orphanet:405 UMLS:C1840347 OMIM:145981 DOID:0060701 GARD:0009758 MESH:C537146 Orphanet:101049 ICD10CM:E83.5" +MONDO:0001266 "An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch." "HP:0001055 MESH:D004886 SCTID:44653001 EFO:1001462 DOID:11330 ICD10CM:A46 GARD:0006370 ICD9:035 UMLS:C0014733" +MONDO:0015262 "Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." "ICD9:756.19 OMIM:271630 SCTID:254088006 OMIM:271530 MESH:C537098 GARD:0010903 OMIM:613678 DOID:0050690 Orphanet:1293 UMLS:C0432228 OMIM:113500 ICD10CM:Q76.3" GO:0002088 "The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus." GO:0042391 "Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane." -MONDO:0006666 "Tissue degeneration and diminished size of the thyroid gland." "EFO:1000827 MedDRA:10043693 ICD10:E03.4 SCTID:190309006 ICD9:246.8 UMLS:C2981141 NCIT:C26942" -MONDO:0015166 "Orphanet:102724 ICD10:C92.0" +MONDO:0006666 "Tissue degeneration and diminished size of the thyroid gland." "EFO:1000827 MedDRA:10043693 SCTID:190309006 ICD9:246.8 UMLS:C2981141 NCIT:C26942" +MONDO:0015166 "Orphanet:102724 ICD10CM:C92.0" http://identifiers.org/hgnc/12412 http://identifiers.org/hgnc/20731 http://identifiers.org/hgnc/20997 http://identifiers.org/hgnc/2439 -MONDO:0017563 "Orphanet:295237 ICD10:Q74.1" +MONDO:0017563 "Orphanet:295237 ICD10CM:Q74.1" MONDO:0010055 "OMIM:271110 MESH:C564806 UMLS:C1849108" -MONDO:0008705 "MESH:C562645 OMIM:200950 ICD10:E83.3 Orphanet:35121 ICD9:277.6 UMLS:C0268410 SCTID:57863006" +MONDO:0008705 "MESH:C562645 OMIM:200950 Orphanet:35121 ICD9:277.6 UMLS:C0268410 SCTID:57863006 ICD10CM:E83.3" NCBITaxon:318477 "GC_ID:1" UBERON:0012615 http://identifiers.org/hgnc/9725 @@ -8504,30 +8499,30 @@ CHR:9606-chr6p22 MONDO:0002860 "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis." "DOID:4061 NCIT:C6378 UMLS:C1336726" http://identifiers.org/hgnc/11212 MONDO:0054733 "OMIM:618091" -MONDO:0017864 "Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects." "SCTID:234062003 UMLS:C0340756 Orphanet:3188 ICD10:Q26.3 GARD:0004598" +MONDO:0017864 "Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects." "SCTID:234062003 UMLS:C0340756 Orphanet:3188 GARD:0004598" GO:0004879 "A DNA-binding transcription factor activity regulated by binding to a ligand that modulates the transcription of specific gene sets transcribed by RNA polymerase II. Nuclear receptor ligands are usually lipid-based (such as a steroid hormone) and the binding of the ligand to its receptor often occurs in the cytoplasm, which leads to its tranlocation to the nucleus." -MONDO:0010475 "An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency." "OMIM:300888 Orphanet:329235 UMLS:C3550963 ICD10:E03.1 NCIT:C130989 DOID:0111140" -MONDO:0009477 "An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)." "Orphanet:506307 ICD10:Q87.8 OMIM:616369 MESH:C565460 DOID:0110595 EFO:0009160 OMIM:243605 UMLS:CN237682 Orphanet:444069" +MONDO:0010475 "An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency." "OMIM:300888 ICD10CM:E03.1 Orphanet:329235 UMLS:C3550963 NCIT:C130989 DOID:0111140" +MONDO:0009477 "An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)." "Orphanet:506307 ICD10CM:Q87.8 OMIM:616369 MESH:C565460 DOID:0110595 EFO:0009160 OMIM:243605 UMLS:CN237682 Orphanet:444069" MONDO:0011256 "OMIM:602564 MESH:C566519 UMLS:C1865180" -MONDO:0001822 "Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins)." "MESH:D007009 GARD:0008394 HP:0010981 ICD9:272.5 SCTID:363140000 ICD10:E78.6 DOID:1387" +MONDO:0001822 "Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins)." "MESH:D007009 GARD:0008394 HP:0010981 ICD9:272.5 SCTID:363140000 DOID:1387" NCBITaxon:721813 "GC_ID:1" http://identifiers.org/hgnc/8527 MONDO:0060779 "Fanconi Syndrome caused by exposure to noxious agents." "SCTID:236467001 UMLS:C0341702 NCIT:C78296" -MONDO:0018890 "Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area." "ICD10:L51.2 Orphanet:537 UMLS:C0014518 UMLS:CN205258" +MONDO:0018890 "Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area." "Orphanet:537 UMLS:C0014518 UMLS:CN205258 ICD10CM:L51.2" MONDO:0000870 "An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias." "NCIT:C3168 DOID:0080144 Orphanet:513 GARD:0009240" http://identifiers.org/hgnc/7329 -MONDO:0013752 "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene." "OMIM:614435 ICD10:Q23.4 UMLS:C3280795 MESH:D018636 MedDRA:10021076 Orphanet:2248" +MONDO:0013752 "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene." "ICD10CM:Q23.4 OMIM:614435 UMLS:C3280795 MESH:D018636 MedDRA:10021076 Orphanet:2248" http://identifiers.org/hgnc/4837 GO:0045229 "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell." MONDO:0010058 "UMLS:CN074295 OMIM:271220" http://identifiers.org/hgnc/9726 MONDO:0003789 "A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene." "Orphanet:47044 DOID:6163 SCTID:715561008 UMLS:C0879257 NCIT:C9222 OMIM:605074" -MONDO:0016761 "An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis." "GARD:0007687 ICD10:Q77.7 ICD9:756.9 Orphanet:252 SCTID:254062008 MedDRA:10062920 Orphanet:253 DOID:0080027" +MONDO:0016761 "An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis." "GARD:0007687 ICD9:756.9 Orphanet:252 SCTID:254062008 MedDRA:10062920 Orphanet:253 DOID:0080027" UBERON:0009497 -MONDO:0009380 "Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." "Orphanet:234 GARD:0006289 MedDRA:10013800 MESH:D007566 GARD:0002793 OMIM:237500 DOID:12308 ICD10:E80.6 SCTID:44553005 NCIT:C34741 UMLS:C0022350" +MONDO:0009380 "Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." "OMIM:237500 GARD:0006289 UMLS:C0022350 MedDRA:10013800 MESH:D007566 GARD:0002793 ICD10CM:E80.6 NCIT:C34741 DOID:12308 SCTID:44553005 Orphanet:234" NCBITaxon:1385 "GC_ID:11" MONDO:0054732 "OMIM:618086" -MONDO:0011255 "ICD10:Q87.0 UMLS:C1865181 Orphanet:357158 MESH:C566520 OMIM:602562" +MONDO:0011255 "UMLS:C1865181 Orphanet:357158 MESH:C566520 ICD10CM:Q87.0 OMIM:602562" MONDO:0700039 "An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia." "UMLS:C1838703 OMIM:600057" MONDO:0060659 "OMIM:617903" MONDO:0014850 "UMLS:C4310776 OMIM:616959" @@ -8541,12 +8536,12 @@ PO:0025530 "A shoot system development stage (PO:0025527) that has as primary pa GO:0001705 "The formation of ectoderm during gastrulation." MONDO:0016346 "This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." "SCTID:721231007 Orphanet:2183 GARD:0002775 UMLS:CN201182" http://identifiers.org/hgnc/4838 -MONDO:0017561 "Orphanet:295232 ICD10:Q68.2" +MONDO:0017561 "ICD10CM:Q68.2 Orphanet:295232" MONDO:0010057 "MESH:C536881 UMLS:C1849102 GARD:0009646 OMIM:271200" MONDO:0006255 "A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." "EFO:1000305 NCIT:C53677 ONCOTREE:INTS UMLS:C1708550" MONDO:0008969 "GARD:0008500 OMIM:215030 SCTID:233728004 UMLS:C0549472 ICD9:516.8 MESH:C535937" SO:0000342 "A region specifically recognised by a recombinase where recombination can occur during mitosis or meiosis." -MONDO:0009599 "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive." "MESH:C565396 OMIM:250420 Orphanet:2502 ICD10:Q78.5 GARD:0003566 UMLS:C1855175" +MONDO:0009599 "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive." "MESH:C565396 OMIM:250420 Orphanet:2502 GARD:0003566 ICD10CM:Q78.5 UMLS:C1855175" MONDO:0020025 "OBSOLETE. Rare male infertility." "Orphanet:98048" MONDO:0032924 "OMIM:618801" MONDO:0014517 "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene." "DOID:0111301 UMLS:C4015395 Orphanet:36387 OMIM:616172" @@ -8554,7 +8549,7 @@ UBERON:0016570 MONDO:0007505 "OMIM:129000" MONDO:0100343 "A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome." "Orphanet:93604" MONDO:0030529 "OMIM:619707" -MONDO:0016361 "Orphanet:220452 ICD10:D69.1 UMLS:CN226911" +MONDO:0016361 "ICD10CM:D69.1 Orphanet:220452 UMLS:CN226911" GO:0034651 "The chemical reactions and pathways resulting in the formation of cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties." CL:0000038 "A progenitor cell committed to the erythroid lineage." "BTO:0004911" CHEBI:16150 "The simplest member of the class of benzoates that is the conjugate base of benzoic acid, comprising a benzoic acid core with a proton missing to give a charge of -1." @@ -8562,7 +8557,7 @@ MONDO:0009909 "UMLS:C1849699 MESH:C564871 OMIM:264080" MONDO:0054736 "OMIM:617598" MONDO:0011963 "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene." "DOID:0110988 UMLS:C1842577 GARD:0010167 OMIM:608091 MESH:C536294 Orphanet:2318" ENVO:01001276 "A solid layer which is primarily composed of some water-based ice." -MONDO:0000141 "Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." "Orphanet:1052 NCIT:C128192 OMIMPS:257300 OMIM:257300 GARD:0003007 SCTID:700056005 OMIM:614114 ICD10:Q99.8 ICD9:758.89 MESH:C536987 UMLS:C1850343" +MONDO:0000141 "Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." "Orphanet:1052 NCIT:C128192 OMIMPS:257300 OMIM:257300 GARD:0003007 SCTID:700056005 OMIM:614114 ICD9:758.89 ICD10CM:Q99.8 MESH:C536987 UMLS:C1850343" http://identifiers.org/hgnc/4839 MONDO:0015163 "Orphanet:102373 UMLS:CN197503" MONDO:0003898 "A myxoid chondrosarcoma occurring in children." "NCIT:C27377 UMLS:C1332984 DOID:6494" @@ -8570,14 +8565,14 @@ GO:2001225 "Any process that modulates the frequency, rate or extent of chloride http://identifiers.org/hgnc/19743 CL:0002138 "A endothelial cell of a lymphatic vessel. The border of the oak leaf-shaped endothelial cell of initial lymphatics are joined by specialized buttons. The discontinuous feature of buttons distinguishes them from zippers in collecting lymphatics, but both types of junctions are composed of proteins typical of adherens junctions and tight junctions found in the endothelium of blood vessels. Buttons seal the sides of flaps of the oak leaf-shaped endothelial cell, leaving open the tips of flaps as routes for fluid entry without disassembly and reformation of intercellular junctions." "FMA:68458 BTO:0004167" UBERON:0035403 -MONDO:0008343 "Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot." "Orphanet:1207 MESH:C562833 NCIT:C99033 ICD10:Q25.5 OMIM:178370 SCTID:253591008 UMLS:C0344976 GARD:0004588" +MONDO:0008343 "Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot." "ICD10CM:Q25.5 Orphanet:1207 MESH:C562833 NCIT:C99033 OMIM:178370 SCTID:253591008 UMLS:C0344976 GARD:0004588" MONDO:0014852 MONDO:0021254 "A neoplasm (disease) that involves the body of uterus." "SCTID:126909004 NCIT:C6300 UMLS:C1263777" HP:0001508 "Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." "UMLS:C0231246 SNOMEDCT_US:36440009 SNOMEDCT_US:432788009 UMLS:C2315100" MONDO:0024554 "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene." "UMLS:C3152055 OMIM:600721 Orphanet:79315 DOID:0111351" GO:1904018 "Any process that activates or increases the frequency, rate or extent of vasculature development." -MONDO:0007068 "Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features." "OMIM:103050 ICD10:E79.8 DOID:0050762 Orphanet:46 UMLS:C0268126 GARD:0000550 ICD9:277.2 SCTID:15285008 MESH:C538235" -MONDO:0015743 "Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo." "SCTID:737580004 UMLS:C4545229 ICD10:H81.8 Orphanet:171684" +MONDO:0007068 "Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features." "OMIM:103050 DOID:0050762 Orphanet:46 ICD10CM:E79.8 UMLS:C0268126 GARD:0000550 ICD9:277.2 SCTID:15285008 MESH:C538235" +MONDO:0015743 "Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo." "SCTID:737580004 UMLS:C4545229 Orphanet:171684 ICD10CM:H81.8" MONDO:0032923 "OMIM:618800" MONDO:0009907 "OMIM:264060 SCTID:424728002 MESH:C563287" GO:0016684 "Catalysis of an oxidation-reduction (redox) reaction in which the peroxide group acts as a hydrogen or electron acceptor." @@ -8585,8 +8580,8 @@ MONDO:0014354 "Any autosomal recessive non-syndromic intellectual disability in MONDO:0013654 "Orphanet:231160 OMIM:614252 UMLS:C3280275" MONDO:0007506 "OMIM:129150 MESH:C565071 UMLS:C1851888" MONDO:0020116 "OBSOLETE. Any of the forms of blood coagulation disease that have a rare incidence." "Orphanet:98429" -MONDO:0006558 "A rare pregnancy-associated autoimmune skin disease that is characterised by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever." "SCTID:86081009 ICD10CM:O26.4 MedDRA:10019939 UMLS:C0019343 MESH:D006559 DOID:0040098 Wikipedia:Gestational_pemphigoid ICD9:646.80 ICD10:O26.4 ICD10:L12.8 NCIT:C85003 GARD:0006497 DOID:14482 Orphanet:63275 EFO:1000709 ICD10:O26.40" -MONDO:0008899 "Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." "OMIM:211920 MESH:C567138 SCTID:720603002 GARD:0001068 Orphanet:1326 ICD10:Q87.1" +MONDO:0006558 "A rare pregnancy-associated autoimmune skin disease that is characterised by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever." "GARD:0006497 DOID:0040098 MedDRA:10019939 UMLS:C0019343 Orphanet:63275 Wikipedia:Gestational_pemphigoid SCTID:86081009 ICD9:646.80 DOID:14482 ICD10CM:L12.8 NCIT:C85003 EFO:1000709 MESH:D006559" +MONDO:0008899 "Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." "OMIM:211920 MESH:C567138 SCTID:720603002 GARD:0001068 ICD10CM:Q87.1 Orphanet:1326" MONDO:0002641 "A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm." "SCTID:40136003 ICD9:442.82 UMLS:C0155746 DOID:342" MONDO:0010059 MONDO:0014794 "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene." "OMIM:616835 DOID:0080517 UMLS:C4225188" @@ -8599,7 +8594,7 @@ MONDO:0006308 http://identifiers.org/hgnc/9987 MONDO:0015161 "Orphanet:102285" MONDO:0002758 "A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border." "NCIT:C6383 DOID:3740 UMLS:C1336983" -MONDO:0010768 "A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype." "NCIT:C3754 MESH:D018238 DOID:3301 ICD10:D39.1 ONCOTREE:OGBL ICDO:9073/1 UMLS:C0206661" +MONDO:0010768 "A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype." "NCIT:C3754 ICD10CM:D39.1 MESH:D018238 DOID:3301 ONCOTREE:OGBL ICDO:9073/1 UMLS:C0206661" MONDO:0100210 "OMIMPS:245590" MONDO:0009906 "MESH:C564873 Orphanet:2292 OMIM:264050" GO:0032768 "Any process that modulates the activity of a monooxygenase." @@ -8612,10 +8607,10 @@ MONDO:0006629 "Noninflammatory degenerative disease of the hip joint which usual MONDO:0054738 "UMLS:C4540036 OMIM:617666 DOID:0111407" http://identifiers.org/hgnc/12679 MONDO:0012983 "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene." "MESH:C567206 UMLS:C2675210 OMIM:612657 DOID:0111019" -MONDO:0009543 "Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." "OMIM:247990 MESH:C537714 GARD:0000144 ICD10:Q87.8 UMLS:C0796024 Orphanet:2083" +MONDO:0009543 "Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." "OMIM:247990 MESH:C537714 GARD:0000144 ICD10CM:Q87.8 UMLS:C0796024 Orphanet:2083" MONDO:0012457 "UMLS:C1853228 OMIM:610260 MESH:C565208" -MONDO:0014320 "Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific." "Orphanet:401777 UMLS:C3810363 OMIM:615722 ICD10:H47.2" -MONDO:0007405 "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." "Orphanet:207 GARD:0006206 OMIM:123500 ICD10:Q75.1 MESH:D003394 UMLS:CN200892 NCIT:C84653 DOID:2339 SCTID:28861008" +MONDO:0014320 "Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific." "ICD10CM:H47.2 Orphanet:401777 UMLS:C3810363 OMIM:615722" +MONDO:0007405 "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." "Orphanet:207 GARD:0006206 OMIM:123500 ICD10CM:Q75.1 MESH:D003394 UMLS:CN200892 NCIT:C84653 DOID:2339 SCTID:28861008" MONDO:0004159 "A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis." "DOID:7237 UMLS:C1518874 NCIT:C41245 ICDO:8470/2" GO:0009059 "The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass." MONDO:0007930 "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p." "DOID:0111059 OMIM:153670 UMLS:C3277076 Orphanet:274" @@ -8625,7 +8620,7 @@ http://identifiers.org/hgnc/9988 UBERON:0035401 MONDO:0015160 "Orphanet:102284" GO:0034249 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amides." -MONDO:0100211 "MESH:C537871 UMLS:C4510411 Orphanet:220465 UMLS:C1855548 ICD10:D82.8 OMIM:245590 ICD10:E34.3 SCTID:724179008" +MONDO:0100211 "ICD10CM:E34.3 MESH:C537871 UMLS:C4510411 Orphanet:220465 UMLS:C1855548 ICD10CM:D82.8 OMIM:245590 SCTID:724179008" GO:0042579 "Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2)." GO:0051049 "Any process that modulates the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." MONDO:0030528 "OMIM:619705" @@ -8635,12 +8630,12 @@ PATO:0001400 "A cellular potency that is the capacity to produce only one differ UBERON:0010212 GO:0060765 "Any process that modulates the rate, frequency, or extent of the androgen receptor signaling pathway." MONDO:0054737 "DOID:0111405 OMIM:219000" -MONDO:0016464 "Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction." "ICD10:E13 UMLS:C0342337 Orphanet:2298 GARD:0003009" +MONDO:0016464 "Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction." "ICD10CM:E13 UMLS:C0342337 Orphanet:2298 GARD:0003009" MONDO:0012458 "OMIM:610261" -MONDO:0017512 "Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." "Orphanet:295122 ICD10:Q71.6" +MONDO:0017512 "Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age." "ICD10CM:Q71.6 Orphanet:295122" http://identifiers.org/hgnc/7326 MONDO:0100311 "Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction." -MONDO:0010658 "X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome." "MESH:C564106 ICD10:Q87.8 DOID:0060804 OMIM:309545 UMLS:C1839792 SCTID:719009006 Orphanet:85290" +MONDO:0010658 "X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome." "MESH:C564106 ICD10CM:Q87.8 DOID:0060804 OMIM:309545 UMLS:C1839792 SCTID:719009006 Orphanet:85290" MONDO:0015575 "OBSOLETE. Rare bacterial infectious disease." "Orphanet:163582" MONDO:0016571 "Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults." "Orphanet:2427 MESH:C537718 SCTID:722033000" UBERON:0011677 @@ -8654,37 +8649,37 @@ MONDO:0100212 "OMIMPS:308205" MONDO:0024646 "UMLS:C1514815 NCIT:C39752" MONDO:0030525 "OMIM:619588" CL:1001587 "Glandular cell of uterine cervix epithelium." "CALOHA:TS-1273" -MONDO:0004170 "SCTID:70558001 UMLS:C0155352 ICD10:H15.12 ICD9:379.02 DOID:728" +MONDO:0004170 "SCTID:70558001 UMLS:C0155352 ICD9:379.02 DOID:728" UBERON:0010213 -MONDO:0004577 "Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber." "HP:0200020 NCIT:C50515 ICD9:370.00 ICD9:370.0 ICD10:H16.00 ICD10:H16.0 SCTID:91514001 DOID:8463 UMLS:C0010043 MESH:D003320" +MONDO:0004577 "Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber." "HP:0200020 NCIT:C50515 ICD9:370.00 ICD9:370.0 SCTID:91514001 DOID:8463 UMLS:C0010043 ICD10CM:H16.0 MESH:D003320" MONDO:0000213 "UMLS:CN238808 OMIMPS:615952" MONDO:0010943 "A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21." "DOID:0070080 UMLS:C1833247 OMIM:600850" http://identifiers.org/hgnc/10274 MONDO:0002232 "A disease involving the nasal cavity." "DOID:2163 SCTID:232340005 NCIT:C27102 UMLS:C0339820" GO:0098660 "The process in which an inorganic ion is transported across a membrane." MONDO:0003764 "A melanoma that arises from leptomeningeal melanocytes and occurs in childhood." "NCIT:C5318 UMLS:C1332976 DOID:6089" -MONDO:0009427 "OBSOLETE. Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization." "OMIM:241500 UMLS:C2673477 DOID:0110914 Orphanet:247651 SCTID:55236002 Orphanet:436 UMLS:C0268412 ICD10:E83.3 Orphanet:247623" -MONDO:0016106 "UMLS:CN241791 ICD10:G71.0 Orphanet:206644 GARD:0012583" -MONDO:0005392 "A congenital or acquired spinal deformity characterized by lateral curvature of the spine." "HP:0002650 ICD10:M41 MESH:D012600 NCIT:C78603 ICD9:737.43 SCTID:298382003 DOID:0060249 ICD10:M41.9 EFO:0004273" -MONDO:0018503 "ICD10:C16.5 ICD10:C16.4 Orphanet:423781 ICD10:C16.3 ICD10:C16.2 ICD10:C16.8 ICD10:C16.1 ICD10:C16.0 UMLS:CN237508 ICD10:C16.6" +MONDO:0009427 "OBSOLETE. Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization." "OMIM:241500 UMLS:C2673477 DOID:0110914 Orphanet:247651 SCTID:55236002 ICD10CM:E83.3 Orphanet:436 UMLS:C0268412 Orphanet:247623" +MONDO:0016106 "UMLS:CN241791 ICD10CM:G71.0 Orphanet:206644 GARD:0012583" +MONDO:0005392 "A congenital or acquired spinal deformity characterized by lateral curvature of the spine." "HP:0002650 ICD10CM:M41 MESH:D012600 NCIT:C78603 ICD9:737.43 SCTID:298382003 DOID:0060249 EFO:0004273" +MONDO:0018503 "Orphanet:423781 UMLS:CN237508" http://identifiers.org/hgnc/29326 -MONDO:0008494 "A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade." "UMLS:C1861453 GARD:0010184 Orphanet:398088 Orphanet:90044 MESH:C535827 OMIM:185020 ICD10:D58.8" -MONDO:0004977 "A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive." "ICD9:202.70 ICDO:9767/1 MEDDRA:10002449 MedDRA:10002449 Orphanet:86886 UMLS:C0020981 DOID:0111147 EFO:0000255 ICDO:9705/3 MESH:D007119 GARD:0011973 ONCOTREE:AITL ICD10:C86.5 SCTID:413537009 NCIT:C7528 GARD:11973" -MONDO:0011093 "An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency." "UMLS:C1291490 Orphanet:67041 ICD10:E76.2 NCIT:C129073 DOID:0050809 OMIM:601492 ICD9:277.6 SCTID:124473006 MESH:C563209" +MONDO:0008494 "A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade." "UMLS:C1861453 GARD:0010184 Orphanet:398088 Orphanet:90044 MESH:C535827 OMIM:185020 ICD10CM:D58.8" +MONDO:0004977 "A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive." "ICD9:202.70 ICDO:9767/1 MedDRA:10002449 Orphanet:86886 UMLS:C0020981 DOID:0111147 EFO:0000255 ICDO:9705/3 MESH:D007119 GARD:0011973 ONCOTREE:AITL ICD10CM:C86.5 SCTID:413537009 NCIT:C7528 GARD:11973" +MONDO:0011093 "An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency." "UMLS:C1291490 Orphanet:67041 NCIT:C129073 DOID:0050809 ICD10CM:E76.2 OMIM:601492 ICD9:277.6 SCTID:124473006 MESH:C563209" MONDO:0054739 "DOID:0111406 OMIM:617667 UMLS:C4540040" UBERON:0004336 MONDO:0020808 "A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course." "NCIT:C4672" -MONDO:0011687 "Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." "SCTID:719510006 GARD:0009194 Orphanet:99940 ICD10:G60.0 DOID:0110163 UMLS:C1847823 MESH:C535413 OMIM:606595 UMLS:C4304675" +MONDO:0011687 "Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." "MESH:C535413 ICD10CM:G60.0 UMLS:C1847823 UMLS:C4304675 OMIM:606595 SCTID:719510006 GARD:0009194 Orphanet:99940 DOID:0110163" http://identifiers.org/hgnc/1232 MONDO:0013964 "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene." "OMIM:614900 UMLS:C3554042" -MONDO:0001415 "Loss of testicular volume." "SCTID:17585008 UMLS:C0156312 ICD9:608.3 ICD10:N50.0 NCIT:C123259 DOID:11994" +MONDO:0001415 "Loss of testicular volume." "SCTID:17585008 UMLS:C0156312 ICD9:608.3 NCIT:C123259 DOID:11994 ICD10CM:N50.0" HsapDv:0000106 "Child stage that refers to a child who is over 12 and under 13 years old." -MONDO:0010085 "Schilder's disease is a progressive demyelinating disorder of the central nervous system." "ICD10:G37.0 ICD9:341.1 UMLS:C0007795 SCTID:49692006 Orphanet:59298 OMIM:272100" -MONDO:0013361 "Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms." "UMLS:C0020640 OMIM:613679 Orphanet:325 ICD9:286.3 DOID:2235 GARD:0002235 SCTID:73975000 ICD10:D68.2 MESH:D007020 NCIT:C131737" +MONDO:0010085 "Schilder's disease is a progressive demyelinating disorder of the central nervous system." "ICD9:341.1 UMLS:C0007795 SCTID:49692006 Orphanet:59298 OMIM:272100" +MONDO:0013361 "Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms." "ICD10CM:D68.2 UMLS:C0020640 OMIM:613679 Orphanet:325 ICD9:286.3 DOID:2235 GARD:0002235 SCTID:73975000 MESH:D007020 NCIT:C131737" UBERON:0011679 -MONDO:0008749 "Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response." "GARD:0010682 UMLS:C2932717 ICD9:275.49 Orphanet:94090 UMLS:CN206737 ICD10:E20.1 OMIM:203330 MESH:C548077 SCTID:42183005" +MONDO:0008749 "Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response." "GARD:0010682 UMLS:C2932717 ICD9:275.49 Orphanet:94090 UMLS:CN206737 ICD10CM:E20.1 OMIM:203330 MESH:C548077 SCTID:42183005" http://identifiers.org/hgnc/2699 -MONDO:0015367 "Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976." "SCTID:733034007 UMLS:CN199458 Orphanet:1406 UMLS:C4518555 ICD10:Q87.0 UMLS:C0221060 GARD:0001261" +MONDO:0015367 "Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976." "ICD10CM:Q87.0 SCTID:733034007 UMLS:CN199458 Orphanet:1406 UMLS:C4518555 UMLS:C0221060 GARD:0001261" MONDO:0001675 http://identifiers.org/hgnc/2433 PATO:0000467 "A quality inhering in a bearer by virtue of the bearer's existence." @@ -8704,18 +8699,18 @@ FOODON:00002451 "A process involving the physical transformation of a food sourc UBERON:0004337 CHEBI:14321 "An alpha-amino-acid anion that is the conjugate base of glutamic acid, having anionic carboxy groups and a cationic amino group" GO:0036160 "The regulated release of a melanocyte-stimulating hormone, any of a group of peptide hormones that are produced by cells in the intermediate lobe of the pituitary gland, and stimulate the production of melanin to increase pigmentation." -MONDO:0010952 "Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload." "MESH:C538137 GARD:0002806 Orphanet:163 SCTID:702398007 UMLS:C1833213 DOID:0111256 ICD9:289.89 OMIM:600886 ICD10:H26.0 ICD9:366.44" +MONDO:0010952 "Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload." "MESH:C538137 GARD:0002806 Orphanet:163 SCTID:702398007 UMLS:C1833213 DOID:0111256 ICD9:289.89 OMIM:600886 ICD10CM:H26.0 ICD9:366.44" CHEBI:33457 "A pnictogen oxoacid which contains phosphorus and oxygen, at least one hydrogen atom bound to oxygen, and forms an ion by the loss of one or more protons." MONDO:0005370 http://identifiers.org/hgnc/2698 MONDO:0044986 "A disease or disorder that involves the lymphoid system." "SCTID:111590001" MONDO:0004504 "A urethra cancer that involves the penis." "UMLS:C1518950 NCIT:C39868 DOID:8223" -MONDO:0015390 "Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly." "UMLS:C4274985 SCTID:715828006 Orphanet:141099 ICD10:Q30.8" +MONDO:0015390 "Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly." "UMLS:C4274985 SCTID:715828006 ICD10CM:Q30.8 Orphanet:141099" PATO:0002478 "A shape quality inhering in a bearer by virtue of the bearer's being marked by narrow lines or grooves, usually parallel, that are oriented transversely relative to the long axis of the bearer." MONDO:0030524 "OMIM:619698" CHEBI:57934 "The ammonium ion resulting from the protonation of the amino group of psychosine." MONDO:0032921 "OMIM:618797" -MONDO:0000476 "MESH:D020821 UMLS:C0013423 ICD10:G24.2 ICD9:333.6 ICD10:G24.1 ICD9:333.89 SCTID:425492002 MESH:D004422 DOID:0050835 ICD9:333.8" +MONDO:0000476 "MESH:D020821 UMLS:C0013423 ICD9:333.6 ICD9:333.89 SCTID:425492002 MESH:D004422 DOID:0050835 ICD9:333.8" MONDO:0100215 "UMLS:CN248515 SCTID:720576001 Orphanet:178506 UMLS:C3150910 OMIM:618007 OMIM:613658" MONDO:0004171 MONDO:0002873 @@ -8736,7 +8731,7 @@ UBERON:0003134 MONDO:0006154 "An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon." "EFO:1000186 UMLS:C1333096 NCIT:C5498" UBERON:0001838 MONDO:0006550 "A benign polypoid lesion of mesodermal origin that arises from the urethra." "EFO:1000700 UMLS:C1336884 DOID:8108 NCIT:C6170" -MONDO:0012396 "Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells." "OMIM:610021 Orphanet:165991 SCTID:715830008 DOID:0070214 GARD:0009932 UMLS:C1864902 ICD10:E16.1 NCIT:C131839 UMLS:C1864904 MESH:C538376" +MONDO:0012396 "Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells." "SCTID:715830008 Orphanet:165991 UMLS:C1864902 NCIT:C131839 OMIM:610021 UMLS:C1864904 GARD:0009932 ICD10CM:E16.1 DOID:0070214 MESH:C538376" MONDO:0003205 "A carcinoma that arises from glandular epithelial cells of the renal pelvis" "UMLS:C1335748 DOID:4918 NCIT:C6143" UBERON:0005795 MONDO:0033280 "UMLS:CN651336 OMIM:617783 DOID:0080272" @@ -8745,9 +8740,9 @@ HP:0002209 "Decreased number of hairs per unit area of skin of the scalp." "UMLS ENVO:02000140 "A liquid or a gas." MONDO:0019961 HP:0012443 "A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain." "UMLS:C4021085" -MONDO:0018115 "A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." "SCTID:239112008 MedDRA:10014985 ICD10:Q85.8 Orphanet:35125" -MONDO:0020494 "Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy." "Orphanet:99806 ICD10:K00.2 UMLS:C2750325 OMIM:166750" -MONDO:0017566 "Orphanet:295243 ICD10:Q74.2" +MONDO:0018115 "A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." "SCTID:239112008 MedDRA:10014985 Orphanet:35125 ICD10CM:Q85.8" +MONDO:0020494 "Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy." "Orphanet:99806 ICD10CM:K00.2 UMLS:C2750325 OMIM:166750" +MONDO:0017566 "ICD10CM:Q74.2 Orphanet:295243" http://identifiers.org/hgnc/10012 UBERON:0009494 UBERON:0004331 @@ -8757,25 +8752,25 @@ UBERON:0007098 MONDO:0018765 "SCTID:722849002 UMLS:C4302263 Orphanet:468635" http://identifiers.org/hgnc/13872 UBERON:0001837 -MONDO:0017453 "Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis." "GARD:0002310 Orphanet:295 SCTID:715197005 ICD10:P35.8 GARD:0004236 MESH:C536301" +MONDO:0017453 "Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis." "GARD:0002310 Orphanet:295 ICD10CM:P35.8 SCTID:715197005 GARD:0004236 MESH:C536301" MONDO:0100264 "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene." GO:0060047 "The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body." MONDO:0016524 "An alteration in limb growth caused by congenital vascular malformations in childhood" "Orphanet:235832" UBERON:0003133 CHEBI:49475 -MONDO:0009210 "Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms." "OMIM:227400 ICD10:D68.2 MedDRA:10048930 SCTID:88776002 UMLS:C0015499 Orphanet:326 NCIT:C98938 MESH:D005166 GARD:0002237 DOID:2216" +MONDO:0009210 "Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms." "OMIM:227400 MedDRA:10048930 SCTID:88776002 UMLS:C0015499 Orphanet:326 NCIT:C98938 MESH:D005166 GARD:0002237 ICD10CM:D68.2 DOID:2216" MONDO:0002948 "A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course." "NCIT:C4109 DOID:4291 UMLS:C0346013 ICDO:8093/3 SCTID:254703005" -MONDO:0005662 "Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer." "MESH:D001447 UMLS:C0004692 SCTID:57725006 DOID:12386 EFO:0007163 NCIT:C84583 ICD9:007.0 Orphanet:1223 GARD:0000809 MedDRA:10004080 ICD10:A07.0" +MONDO:0005662 "Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer." "MESH:D001447 UMLS:C0004692 SCTID:57725006 DOID:12386 EFO:0007163 NCIT:C84583 ICD9:007.0 ICD10CM:A07.0 Orphanet:1223 GARD:0000809 MedDRA:10004080" GO:0043271 "Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." -MONDO:0017567 "Orphanet:295245 ICD10:Q74.2" +MONDO:0017567 "ICD10CM:Q74.2 Orphanet:295245" CHEBI:33848 "A polycyclic aromatic hydrocarbon." UBERON:0004332 HP:0000526 "Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris." "UMLS:C0003076 SNOMEDCT_US:69278003 MSH:D015783" -MONDO:0011624 "Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities." "Orphanet:101028 MESH:C563207 ICD10:E74.8 SCTID:124252008 OMIM:606003 UMLS:C1291329 ICD9:277.6 GARD:0010445" +MONDO:0011624 "Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities." "Orphanet:101028 MESH:C563207 ICD10CM:E74.8 SCTID:124252008 OMIM:606003 UMLS:C1291329 ICD9:277.6 GARD:0010445" CHEBI:2679 "A racemate comprising equimolar amounts of (R)-amphetamine (also known as levamphetamine or levoamphetamine) and (S)-amphetamine (also known as dexamfetamine or dextroamphetamine." http://identifiers.org/hgnc/4832 -MONDO:0005629 "Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear." "UMLS:C0000880 SCTID:231896005 MedDRA:10069408 ICD10:H19.2* NCIT:C50450 MESH:D015823 ICD10:B60.1+ EFO:0007126 Orphanet:67043 GARD:0009285 ICD9:370.8" -MONDO:0012231 "Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported." "UMLS:C1836485 OMIM:609260 ICD10:G60.0 MESH:C563757 SCTID:764850002 Orphanet:99947 NCIT:C150646 DOID:0110155" +MONDO:0005629 "Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear." "ICD10EXP:H19.2* UMLS:C0000880 ICD10EXP:B60.1+ SCTID:231896005 MedDRA:10069408 NCIT:C50450 MESH:D015823 EFO:0007126 Orphanet:67043 GARD:0009285 ICD9:370.8" +MONDO:0012231 "Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported." "UMLS:C1836485 ICD10CM:G60.0 OMIM:609260 MESH:C563757 SCTID:764850002 Orphanet:99947 NCIT:C150646 DOID:0110155" http://identifiers.org/hgnc/11474 http://identifiers.org/hgnc/719 MONDO:0033282 "UMLS:CN388855 DOID:0080274 OMIM:617613" @@ -8783,11 +8778,11 @@ MONDO:0100218 "OMIM:618947" MONDO:0100219 "OMIM:618985" MONDO:0010054 "UMLS:C1849109 OMIM:271109 MESH:C564807" GO:1904221 "Any process that stops, prevents or reduces the frequency, rate or extent of serine C-palmitoyltransferase activity." -MONDO:0000940 "Infection with protozoa of the genus trypanosoma." "MESH:D014352 UMLS:C0041227 ICD9:086.9 SCTID:78940002 ICD9:086 DOID:10113 ICD10:B57.2 ICD10:B56" +MONDO:0000940 "Infection with protozoa of the genus trypanosoma." "MESH:D014352 ICD10CM:B56 UMLS:C0041227 ICD9:086.9 SCTID:78940002 ICD9:086 DOID:10113" MFOMD:0000013 "A depressed mood episode is a pathological mental process characterised by persistent feelings of sadness, anxiety, guilt, anger, isolation or hopelessness and other negative valence emotions, disturbances in sleep and appetite, fatigue, loss of interest in usually enjoyable activities and morbid or suicidal ideation." MONDO:0003404 "A yolk sac tumor that occurs in an adult." "DOID:5348 NCIT:C27241 UMLS:C1332221" -MONDO:0017564 "Orphanet:295239 ICD10:Q74.0" -MONDO:0011429 "Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases)." "ICD10:M08.1 MESH:D001171 ICD9:714.33 ICD10:M08.9 ICD10:M08.3 Orphanet:85414 ICD10:M08.2 ICD10:M08.0 OMIM:604302 MedDRA:10059177 ICD9:714.32 ICD10:M08.8 SCTID:410502007 NCIT:C114357 ICD9:714.3 ICD9:714.31 ICD10:M08.40 DOID:676 ICD10:M08.4 Orphanet:92" +MONDO:0017564 "Orphanet:295239 ICD10CM:Q74.0" +MONDO:0011429 "Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases)." "MESH:D001171 ICD9:714.33 ICD10CM:M08.1 ICD10CM:M08.4 Orphanet:85414 OMIM:604302 MedDRA:10059177 ICD9:714.32 ICD10CM:M08.3 ICD10CM:M08.9 SCTID:410502007 NCIT:C114357 ICD9:714.3 ICD9:714.31 DOID:676 ICD10CM:M08.8 ICD10CM:M08.2 ICD10CM:M08.0 Orphanet:92" MONDO:0011251 "OMIM:602556 MESH:C566524 UMLS:C1865203" MONDO:0013965 "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene." "GARD:0012645 DOID:0060654 Orphanet:137783 OMIM:614915 UMLS:C3554046" MONDO:0000472 @@ -8795,60 +8790,60 @@ UBERON:0003135 http://identifiers.org/hgnc/2436 MONDO:0018763 "Orphanet:467166 UMLS:CN242152" HP:0010762 "A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis." "SNOMEDCT_US:50007008 UMLS:C0008487 MSH:D002817 NCIT:C2947" -MONDO:0015072 "An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver." "UMLS:C3273031 Orphanet:100085 UMLS:CN197365 ICD10:C22.7 SCTID:716652006 NCIT:C96787" +MONDO:0015072 "An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver." "UMLS:C3273031 ICD10CM:C22.7 Orphanet:100085 UMLS:CN197365 SCTID:716652006 NCIT:C96787" UBERON:0001839 NCBITaxon:6282 "GC_ID:1" HP:0001369 "Inflammation of a joint." "SNOMEDCT_US:3723001 MSH:D001168 UMLS:C0003864" ENVO:01001688 "An object which is composed primarily of a fluid."@en -MONDO:0016100 "ICD10:G70.8 Orphanet:206575 UMLS:CN200870" +MONDO:0016100 "ICD10CM:G70.8 Orphanet:206575 UMLS:CN200870" http://identifiers.org/hgnc/33067 MONDO:0006270 "A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma." "EFO:1000326 NCIT:C4018 ICDO:8520/2 ONCOTREE:LCIS UMLS:C0334381 SCTID:109888004 UMLS:C0279563" -MONDO:0006653 "Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath." "MESH:D000874 UMLS:C0003164 SCTID:33548005 CSP:2596-4484 MedDRA:10050363 ICD10:J60 EFO:1000813 NCIT:C34389 DOID:10324" -MONDO:0014284 "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23." "ICD10:Q77.2 OMIM:615630 UMLS:C3810175 DOID:0110091 Orphanet:140969 ICD10:Q87.5 Orphanet:474" +MONDO:0006653 "Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath." "MESH:D000874 UMLS:C0003164 SCTID:33548005 CSP:2596-4484 MedDRA:10050363 EFO:1000813 NCIT:C34389 DOID:10324" +MONDO:0014284 "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23." "OMIM:615630 UMLS:C3810175 DOID:0110091 Orphanet:140969 Orphanet:474" CHEBI:22506 -MONDO:0019832 "An instance of hypopituitarism that is acquired during the lifetime of the individual." "Orphanet:95502 ICD10:E23.0" +MONDO:0019832 "An instance of hypopituitarism that is acquired during the lifetime of the individual." "Orphanet:95502 ICD10CM:E23.0" NCBITaxon:318479 "GC_ID:1" CHEBI:33232 "Intended use of the molecular entity or part thereof by humans." -MONDO:0017565 "Orphanet:295241 ICD10:Q74.0" -MONDO:0006541 "Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool." "EFO:1000690 ICD10:Q81 Wikipedia:Epidermolysis_bullosa MESH:D004820 ICD10:Q81.9 SCTID:61003004 DOID:2730 ICD9:757.39 NCIT:C67383 GARD:0006359" -MONDO:0017927 "Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities." "ICD10:Q68.4 SCTID:766819001 Orphanet:324307 UMLS:CN204066" +MONDO:0017565 "Orphanet:295241 ICD10CM:Q74.0" +MONDO:0006541 "Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool." "ICD10CM:Q81 EFO:1000690 Wikipedia:Epidermolysis_bullosa MESH:D004820 SCTID:61003004 DOID:2730 ICD9:757.39 NCIT:C67383 GARD:0006359" +MONDO:0017927 "Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities." "SCTID:766819001 Orphanet:324307 UMLS:CN204066 ICD10CM:Q68.4" IAO:0000409 "A denotator type indicates how a term should be interpreted from an ontological perspective."@en IAO:0000409 "A denotator type indicates how a term should be interpreted from an ontological perspective." MONDO:0004475 "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm." "UMLS:C1333069 DOID:8137 NCIT:C6462" MONDO:0003765 "A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood." "DOID:6090 UMLS:C1332204 NCIT:C5319" -MONDO:0008660 "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." "DOID:0050948 UMLS:C0342642 OMIM:193100 ICD10:E83.3 SCTID:237889002 MESH:C562791 Orphanet:89937" +MONDO:0008660 "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." "DOID:0050948 UMLS:C0342642 OMIM:193100 ICD10CM:E83.3 SCTID:237889002 MESH:C562791 Orphanet:89937" MONDO:0003065 "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas." "DOID:4633 NCIT:C8194 UMLS:C0280336" -MONDO:0016825 "Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." "ICD10:G71.3 GARD:0003682 MESH:C537476 Orphanet:2597 OMIM:251950" +MONDO:0016825 "Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." "GARD:0003682 MESH:C537476 ICD10CM:G71.3 Orphanet:2597 OMIM:251950" CHEBI:48278 UBERON:0001834 MONDO:0021493 "A benign neoplasm that involves the minor salivary gland." "SCTID:92220004 UMLS:C0345615 ICD9:210.4 NCIT:C4411" GO:0002578 "Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation." -MONDO:0019823 "Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids." "ICD10:Q25.8 Orphanet:95486" +MONDO:0019823 "Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids." "Orphanet:95486 ICD10CM:Q25.8" UBERON:0003396 MONDO:0100209 http://identifiers.org/hgnc/17328 HP:0002979 "A bending or abnormal curvature affecting a long bone of the leg." "UMLS:C0544755 MSH:D056305 SNOMEDCT_US:299331007" -MONDO:0010483 "X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism." "Orphanet:85277 ICD10:Q87.8 SCTID:719016007 UMLS:C3806730 OMIM:300912" +MONDO:0010483 "X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism." "Orphanet:85277 ICD10CM:Q87.8 SCTID:719016007 UMLS:C3806730 OMIM:300912" http://identifiers.org/hgnc/25613 -MONDO:0019949 "ICD9:359.89 ICD10:G71.2 SCTID:34513009 Orphanet:97240 UMLS:C0270969" +MONDO:0019949 "ICD9:359.89 SCTID:34513009 Orphanet:97240 ICD10CM:G71.2 UMLS:C0270969" UBERON:0002198 CHEBI:26020 "Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom." UBERON:0001833 http://identifiers.org/hgnc/6383 MONDO:0024893 "MESH:C531834 UMLS:C2930846" -MONDO:0014444 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." "Orphanet:110 DOID:0110138 ICD10:Q87.89 UMLS:C3889474 OMIM:615993" +MONDO:0014444 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." "Orphanet:110 DOID:0110138 UMLS:C3889474 OMIM:615993" http://identifiers.org/hgnc/32700 GO:0098754 "Any process that reduces or removes the toxicity of a toxic substance. These may include transport of the toxic substance away from sensitive areas and to compartments or complexes whose purpose is sequestration of the toxic substance." UBERON:0003395 -MONDO:0009825 "5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria." "SCTID:26132002 GARD:0005681 MESH:C535322 OMIM:260005 ICD9:270.8 HP:0040142 ICD10:E72.8 UMLS:C0268525 Orphanet:33572" +MONDO:0009825 "5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria." "SCTID:26132002 GARD:0005681 MESH:C535322 OMIM:260005 ICD9:270.8 HP:0040142 UMLS:C0268525 Orphanet:33572 ICD10CM:E72.8" UBERON:0005792 NCBITaxon:12066 "GC_ID:1" CHR:9606-chr1q21 MONDO:0004460 "A thyroid gland adenoma composed of microfollicular structures." "ICDO:8333/0 NCIT:C4160 UMLS:C0334328 DOID:8102" -MONDO:0001066 "Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints." "NCIT:C41354 UMLS:C1517744 ICD10:A66.4 ICD10:A66.1 DOID:10567 UMLS:C0276007 ICD9:102.4 SCTID:186968004 ICD9:102.1" -MONDO:0012915 "Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual." "MESH:C567290 Orphanet:250994 ICD10:Q92.3 OMIM:612475 DOID:0060435 UMLS:C2675891 GARD:0010591" +MONDO:0001066 "Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints." "NCIT:C41354 UMLS:C1517744 DOID:10567 UMLS:C0276007 ICD9:102.4 SCTID:186968004 ICD9:102.1" +MONDO:0012915 "Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual." "MESH:C567290 Orphanet:250994 OMIM:612475 DOID:0060435 UMLS:C2675891 GARD:0010591" MONDO:0014516 "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene." "Orphanet:808 OMIM:616171 DOID:0080106 UMLS:C4015388" -MONDO:0008943 "The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training." "Orphanet:1170 OMIM:213200 MESH:C565865 UMLS:C1859298 GARD:0001199 SCTID:715369006 ICD10:G11.0 DOID:0080061" +MONDO:0008943 "The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training." "ICD10CM:G11.0 Orphanet:1170 OMIM:213200 MESH:C565865 UMLS:C1859298 GARD:0001199 SCTID:715369006 DOID:0080061" http://identifiers.org/hgnc/7582 UBERON:0001832 MONDO:0020937 "OMIMPS:178110" @@ -8859,19 +8854,19 @@ UBERON:0003398 MONDO:0022495 "GARD:0000775" MONDO:0007785 "UMLS:C2750824 OMIM:145680 MESH:C567719 DOID:0080219" CL:0007000 "Skeletogenic cell that has the potential to develop into an ameloblast. Located in the inner enamel epithelium, these cells elongate, their nuclei shift distally (away from the dental papilla), and their cytoplasm becomes filled with organelles needed for synthesis and secretion of enamel proteins." -MONDO:0019867 "Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies." "ICD10:Q92.1 MESH:C537940 Orphanet:96061 SCTID:717335009 GARD:0005359 MedDRA:10053916" +MONDO:0019867 "Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies." "MESH:C537940 Orphanet:96061 GARD:0005359 SCTID:717335009 ICD10CM:Q92.1 MedDRA:10053916" NCBITaxon:137 "PMID:23908650 GC_ID:11" GO:0009100 "The chemical reactions and pathways involving glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide." GO:0060557 "Any process that increases the rate, frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3)." MONDO:0003361 "A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma." "NCIT:C5335 UMLS:C1336007 DOID:5272" -MONDO:0010882 "Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability." "ICD10:Q87.2 Orphanet:1113 UMLS:C1838161 MESH:C563942 GARD:0000748 OMIM:600384" +MONDO:0010882 "Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability." "ICD10CM:Q87.2 Orphanet:1113 UMLS:C1838161 MESH:C563942 GARD:0000748 OMIM:600384" MONDO:0024388 "Infections with bacteria of the genus clostridium." "MESH:D003015 SCTID:56688005 ICD9:040.89 EFO:1000874" MONDO:0006587 MONDO:0002093 "A benign skin neoplasm composed of epithelial cells." "UMLS:C0846967 MESH:D049309 NCIT:C7419 GARD:0008604 HP:0025432 DOID:174" ENVO:02000100 "Dust which is derived from mineral material." UBERON:0001835 -MONDO:0012964 "Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported." "Orphanet:1596 ICD10:Q93.5 MESH:C567232 OMIM:612626 UMLS:C2675463 SCTID:766050000 DOID:0060397" -MONDO:0001210 "Abnormal recession of the eyeball within the eye socket." "NCIT:C79552 UMLS:C0014306 ICD10:H05.4 SCTID:80093006 ICD10:H05.40 MESH:D015841 HP:0000490 ICD9:376.50 ICD9:376.5 DOID:11175" +MONDO:0012964 "Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported." "Orphanet:1596 MESH:C567232 ICD10CM:Q93.5 OMIM:612626 UMLS:C2675463 SCTID:766050000 DOID:0060397" +MONDO:0001210 "Abnormal recession of the eyeball within the eye socket." "NCIT:C79552 UMLS:C0014306 SCTID:80093006 MESH:D015841 HP:0000490 ICD9:376.50 ICD9:376.5 DOID:11175" MONDO:0005123 "EFO:0000782" MONDO:0024891 "UMLS:C0393442 SCTID:230155003" MONDO:0007786 @@ -8883,17 +8878,18 @@ UBERON:0003397 http://identifiers.org/hgnc/738 UBERON:0002199 NCBITaxon:136 "PMID:16558735 PMID:1917844 PMID:23908650 PMID:11542017 GC_ID:11 PMID:11075904" +MONDO:0006588 http://identifiers.org/hgnc/1480 MONDO:0042489 "A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases." "MESH:D004198" MONDO:0009083 "OMIM:221300 GARD:0001460 Orphanet:3216 MESH:C565644 UMLS:C1857341" MONDO:0005037 "An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated." "UMLS:C0279633 EFO:0000504 ONCOTREE:ISTAD NCIT:C9157" http://identifiers.org/hgnc/24678 -MONDO:0020098 "Orphanet:98360 UMLS:CN227778 ICD10:D50.8" +MONDO:0020098 "ICD10CM:D50.8 Orphanet:98360 UMLS:CN227778" GO:0044058 "Any process that modulates the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism." MONDO:0024630 "ICD9:279.8 SCTID:234580003 UMLS:C0398735" GO:0051726 "Any process that modulates the rate or extent of progression through the cell cycle." MONDO:0016631 "OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which develops after birth." "UMLS:CN226981 Orphanet:248347" -MONDO:0014369 "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination." "Orphanet:420584 GARD:0013349 UMLS:C4014479 DOID:0080328 OMIM:615849 ICD10:Q87.8" +MONDO:0014369 "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination." "Orphanet:420584 GARD:0013349 ICD10CM:Q87.8 UMLS:C4014479 DOID:0080328 OMIM:615849" MONDO:0008984 "GARD:0001360 OMIM:215518 ICD9:759.89 UMLS:C0340038 SCTID:233667003 MESH:C562757" GO:0016861 "Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor, which is an aldose or a ketose, are the same molecule, and no oxidized product appears." GO:0045807 "Any process that activates or increases the frequency, rate or extent of endocytosis." @@ -8902,15 +8898,15 @@ MONDO:0010741 "Any tooth agenesis in which the cause of the disease is a mutatio MONDO:0001428 "DOID:12072 ICD9:537.81 UMLS:C0152163 SCTID:335002" NCBITaxon:10508 "GC_ID:1" UBERON:0002194 -MONDO:0004215 "An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center." "ICD9:022.0 SCTID:84980006 UMLS:C0003177 ICD10:A22.0 GARD:0008158 DOID:7426 MESH:C531621" +MONDO:0004215 "An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center." "ICD9:022.0 SCTID:84980006 UMLS:C0003177 GARD:0008158 DOID:7426 MESH:C531621 ICD10CM:A22.0" http://identifiers.org/hgnc/10294 MONDO:0003823 -MONDO:0020099 "Orphanet:98362 OMIMPS:300751 ICD10:D64.0" +MONDO:0020099 "Orphanet:98362 OMIMPS:300751" MONDO:0004095 "A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes." "NCIT:C27907 NCIT:C3457 DOID:707 GARD:0005877 MESH:D016393" http://identifiers.org/hgnc/5181 http://identifiers.org/hgnc/735 http://identifiers.org/hgnc/23215 -MONDO:0013046 "Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." "UMLS:C2752027 MESH:C567861 GARD:0002125 Orphanet:99849 OMIM:612932 ICD10:E74.0" +MONDO:0013046 "Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." "UMLS:C2752027 MESH:C567861 GARD:0002125 Orphanet:99849 OMIM:612932 ICD10CM:E74.0" MONDO:0008983 "OMIM:215510 MESH:C565848" MONDO:0000228 UBERON:0002193 @@ -8920,7 +8916,7 @@ HP:0008063 "Absence or underdevelopment of the lens." "UMLS:C4024738" NCBITaxon:133898 MONDO:0023699 "UMLS:C2931088 GARD:0003397 OMIM:101200 MESH:C536023" NCBITaxon:41820 "GC_ID:1" -MONDO:0014149 "Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate." "ICD10:G71.2 Orphanet:363409 SCTID:763346009 OMIM:615368 UMLS:C3809272" +MONDO:0014149 "Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate." "Orphanet:363409 SCTID:763346009 OMIM:615368 ICD10CM:G71.2 UMLS:C3809272" MONDO:0004452 "A germinoma arising from the central nervous system during childhood." "DOID:8078 UMLS:C1332953 NCIT:C27406" ECTO:9000175 "An exposure to metal cation." MONDO:0001425 @@ -8929,25 +8925,25 @@ MONDO:0004078 "An intrahepatic cholangiocarcinoma that produces abundant mucin." MONDO:0013552 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene." "OMIM:614067 DOID:0110804 Orphanet:280763 UMLS:C3279743" CL:0000971 "An IgM memory B cell is an unswitched memory B cell with the phenotype IgM-positive and IgD-negative." MONDO:0003384 "A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated." "DOID:5302 UMLS:C1519867 NCIT:C40139" -MONDO:0001016 "A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site." "UMLS:C0153602 ICD9:187.5 SCTID:363452003 NCIT:C3558 ICD10:C63.0 DOID:10366" -MONDO:0012638 "Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter." "ICD10:Q11.2 Orphanet:77299 MESH:C566985 GARD:0009292 SCTID:720010009 OMIM:611222" +MONDO:0001016 "A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site." "UMLS:C0153602 ICD9:187.5 NCIT:C3558 SCTID:363452003 DOID:10366" +MONDO:0012638 "Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter." "Orphanet:77299 MESH:C566985 GARD:0009292 ICD10CM:Q11.2 SCTID:720010009 OMIM:611222" CL:1001576 "Squamous cell of oral epithelium." "CALOHA:TS-1252" -MONDO:0005530 "Disorders related or resulting from abuse or mis-use of opioids." "MESH:D009293 SCTID:75544000 ICD10:F11.2 ICD9:304.00 DOID:2559 ICD9:304.0 EFO:0005611" +MONDO:0005530 "Disorders related or resulting from abuse or mis-use of opioids." "MESH:D009293 SCTID:75544000 ICD9:304.00 DOID:2559 ICD9:304.0 EFO:0005611" MONDO:0009081 "MESH:C565646 UMLS:C1857343 OMIM:220900" UBERON:0003394 MONDO:0004443 "A parachordoma arising from the chest wall." "NCIT:C6720 DOID:8043 UMLS:C1332934" -MONDO:0010914 "The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." "ICD10:E71.3 UMLS:C1833511 Orphanet:228305 Orphanet:157 OMIM:600649 MESH:C563462" +MONDO:0010914 "The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." "UMLS:C1833511 Orphanet:228305 Orphanet:157 ICD10CM:E71.3 OMIM:600649 MESH:C563462" MONDO:0033004 "A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene." "OMIM:263200 DOID:0080212" -MONDO:0015452 "Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." "GARD:0006124 OMIM:614608 ICD9:759.89 OMIMPS:135900 OMIM:615866 OMIM:614609 OMIM:614607 OMIM:135900 DOID:1925 SCTID:10007009 NCIT:C35321 MESH:C536436 Orphanet:1465 OMIM:616938 UMLS:C0265338 ICD10:Q87.1" +MONDO:0015452 "Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." "GARD:0006124 OMIM:614608 ICD9:759.89 OMIMPS:135900 OMIM:615866 OMIM:614609 ICD10CM:Q87.1 OMIM:614607 OMIM:135900 DOID:1925 SCTID:10007009 NCIT:C35321 MESH:C536436 Orphanet:1465 OMIM:616938 UMLS:C0265338" CL:0001021 "A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive." HP:0000297 "Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." "UMLS:C1845251 UMLS:C4280646" -MONDO:0017548 "Orphanet:295205 ICD10:Q74.0" +MONDO:0017548 "Orphanet:295205 ICD10CM:Q74.0" MONDO:0010070 "MESH:C537099 OMIM:271530 UMLS:C1849055 Orphanet:93301" http://identifiers.org/hgnc/23216 MONDO:0000227 "SCTID:415561000 UMLS:C1320317 DOID:0050035" MONDO:0005656 "Infections with nematodes of the order ascaridida." "EFO:0007156 MESH:D017191" CHEBI:48706 "Substance that attaches to and blocks cell receptors that normally bind naturally occurring substances." -MONDO:0004496 "Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak." "ICD10:I40 MESH:D009205 SCTID:50920009 ICD10:I51.4 UMLS:C0027059 GARD:0007137 KEGG:05416 ICD9:429.0 NCIT:C34831 DOID:820" +MONDO:0004496 "Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak." "MESH:D009205 SCTID:50920009 ICD10CM:I40 UMLS:C0027059 GARD:0007137 KEGG:05416 ICD9:429.0 NCIT:C34831 DOID:820" MONDO:0021035 "OMIM:203650 UMLS:C1859878 DOID:0080628" MONDO:0005211 "An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." "DOID:5744 NCIT:C40025 NCIT:C7550 DOID:0050933 ONCOTREE:SOC EFO:0002917" UBERON:0002196 @@ -8960,8 +8956,8 @@ MONDO:0007782 "UMLS:C1840373 OMIM:145590 MESH:C564156" GO:0044147 "Any process that stops, prevents, or reduces the frequency, rate or extent of the progression of an organism from an initial condition to a later condition, occurring in, on or near the exterior of its host organism." HP:0000737 "A proneness to anger, i.e., a condition of being easily bothered or annoyed." "UMLS:C2700617" http://identifiers.org/hgnc/24415 -MONDO:0012982 "Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." "DOID:0050994 SCTID:718753002 UMLS:C2675211 MESH:C567207 OMIM:612656 Orphanet:209967 ICD10:G11.8" -MONDO:0014920 "Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene." "OMIM:617111 ICD10:H35.5 DOID:0060865 UMLS:C4310713 Orphanet:466718" +MONDO:0012982 "Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." "DOID:0050994 SCTID:718753002 UMLS:C2675211 MESH:C567207 OMIM:612656 Orphanet:209967 ICD10CM:G11.8" +MONDO:0014920 "Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene." "OMIM:617111 DOID:0060865 UMLS:C4310713 ICD10CM:H35.5 Orphanet:466718" CHR:9606-chr5q14.3 UBERON:0003393 MONDO:0004356 "A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present." "DOID:7762 UMLS:C1332983 NCIT:C6566" @@ -8969,16 +8965,16 @@ SO:0000443 "An attribute to describe the kind of biological sequence." http://identifiers.org/hgnc/2682 GO:0031643 "Any process that activates or increases the frequency, rate or extent of the formation of a myelin sheath around nerve axons." MONDO:0022519 "Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended." "GARD:0009519" -MONDO:0017549 "Orphanet:295207 ICD10:Q74.0" +MONDO:0017549 "Orphanet:295207 ICD10CM:Q74.0" GO:0005747 "A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone." -MONDO:0000226 "ICD9:275.8 ICD9:275.9 ICD10:E83 SCTID:45744005" +MONDO:0000226 "ICD9:275.8 ICD9:275.9 SCTID:45744005 ICD10CM:E83" MONDO:0014325 "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene." "UMLS:C3714949 Orphanet:2309 OMIM:615728" UBERON:0002195 GO:0032114 "Any process that modulates the frequency, rate or extent of glucose-6-phosphatase activity, the catalysis of the reaction: D-glucose 6-phosphate + H2O = D-glucose + phosphate." UBERON:0001830 http://identifiers.org/hgnc/8787 -MONDO:0007538 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene." "OMIM:130900 Orphanet:100032 ICD10:K00.5 DOID:0110055 SCTID:109471001 OMIM:616221 MESH:C562880" -MONDO:0007489 "Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known." "ICD9:756.59 ICD10:Q74.8 GARD:0002019 MESH:C537997 Orphanet:1822 UMLS:C0432282 SCTID:205480005 OMIM:127800" +MONDO:0007538 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene." "OMIM:130900 Orphanet:100032 ICD10CM:K00.5 DOID:0110055 SCTID:109471001 OMIM:616221 MESH:C562880" +MONDO:0007489 "Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known." "ICD9:756.59 ICD10CM:Q74.8 GARD:0002019 MESH:C537997 Orphanet:1822 UMLS:C0432282 SCTID:205480005 OMIM:127800" HP:0002904 "An increased amount of bilirubin in the blood." "UMLS:C0311468 SNOMEDCT_US:26165005" UBERON:0002190 MONDO:0009087 "MESH:C565640 OMIM:221500 UMLS:C1857337" @@ -8988,27 +8984,27 @@ UBERON:1000004 MONDO:0019303 "Changes in the organism associated with senescence, occurring at an accelerated rate." "MESH:D019588 MedDRA:10063493 Orphanet:79389" CL:0000710 "Epithelial cells derived from neural plate and neural crest." "FMA:70557 BTO:0004301" http://identifiers.org/hgnc/6126 -MONDO:0005859 "The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust." "ICD9:085.5 NCIT:C34769 UMLS:C1328252 ICD10:B55.2 EFO:0007379 MESH:D007897 UMLS:C3495436 DOID:9155" +MONDO:0005859 "The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust." "ICD9:085.5 NCIT:C34769 UMLS:C1328252 EFO:0007379 MESH:D007897 UMLS:C3495436 ICD10CM:B55.2 DOID:9155" NCBITaxon:28845 "GC_ID:1" http://identifiers.org/hgnc/7323 -MONDO:0002492 "Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria." "MESH:D058186 NCIT:C26808 ICD10:N17 DOID:3021" +MONDO:0002492 "Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria." "MESH:D058186 NCIT:C26808 ICD10CM:N17 ICD10CM:N17-N19 DOID:3021" CHEBI:33497 "A molecular entity containing one or more atoms of a transition element." MONDO:0011009 "OMIM:601170 UMLS:C1832665 MESH:C563378" -MONDO:0010863 "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene." "DOID:0110744 OMIM:600320 MESH:C563958 UMLS:C1838260 ICD10:E10" -MONDO:0010570 "Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism." "DOID:14737 SCTID:715421009 ICD10:Q87.1 UMLS:C0220767 OMIM:304110 Orphanet:1520 MESH:C536456 GARD:0001578" +MONDO:0010863 "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene." "DOID:0110744 OMIM:600320 MESH:C563958 UMLS:C1838260" +MONDO:0010570 "Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism." "DOID:14737 ICD10CM:Q87.1 SCTID:715421009 UMLS:C0220767 OMIM:304110 Orphanet:1520 MESH:C536456 GARD:0001578" CHEBI:37246 NCBITaxon:116706 "GC_ID:1" NCBITaxon:2732459 "GC_ID:1" MONDO:0023644 "A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas." "NCIT:C9315 UMLS:C0220641 GARD:0009360 GARD:0009342" -MONDO:0007086 "Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell." "Orphanet:88918 SCTID:717766000 Orphanet:63 GARD:0000624 ICD10:Q87.8 OMIM:104200 DOID:0110032" -MONDO:0013600 "A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep." "NCIT:C28286 MESH:D007319 SCTID:193462001 ICD10:G47.0 HP:0100785 EFO:0004698 ICD9:780.52 UMLS:C0393770" -MONDO:0003916 "An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity." "MESH:D044343 SCTID:302872003 ICD9:278.8 UMLS:C1257763 DOID:654" +MONDO:0007086 "Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell." "Orphanet:88918 ICD10CM:Q87.8 SCTID:717766000 Orphanet:63 GARD:0000624 OMIM:104200 DOID:0110032" +MONDO:0013600 "A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep." "NCIT:C28286 MESH:D007319 SCTID:193462001 ICD10CM:G47.0 HP:0100785 EFO:0004698 ICD9:780.52 UMLS:C0393770" +MONDO:0003916 "An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity." "MESH:D044343 SCTID:302872003 ICD9:278.8 UMLS:C1257763 DOID:654 ICD10CM:E65-E68" http://identifiers.org/hgnc/6125 http://identifiers.org/hgnc/20716 MONDO:0005467 "The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope." "EFO:0005250 SCTID:10586006 Wikipedia:Occupational_stress" -MONDO:0006500 "A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels." "ICDO:9120/0 SCTID:400210000 HP:0001028 ONCOTREE:HEMA MESH:D006391 ICD10:D18.0 DOID:255 ICD9:228.09 UMLS:C0018916 ICD9:228.00 GARD:0010759 EFO:1000635 ICD9:228.0 ICD10:D18.00 NCIT:C3085" +MONDO:0006500 "A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels." "ICDO:9120/0 SCTID:400210000 HP:0001028 ONCOTREE:HEMA MESH:D006391 DOID:255 ICD9:228.09 UMLS:C0018916 ICD9:228.00 GARD:0010759 EFO:1000635 ICD9:228.0 NCIT:C3085" GO:0010675 "Any process that modulates the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells." -MONDO:0001042 "A tendinitis that involves the patella." "ICD10:M76.50 DOID:10471 ICD10:M76.5 ICD9:726.64 SCTID:37785001 UMLS:C0158317" +MONDO:0001042 "A tendinitis that involves the patella." "DOID:10471 ICD9:726.64 ICD10CM:M76.5 SCTID:37785001 UMLS:C0158317" HP:0000155 "Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue." "UMLS:C0149745 MSH:D019226 SNOMEDCT_US:26284000" http://identifiers.org/hgnc/8788 CL:0000530 @@ -9027,27 +9023,27 @@ MONDO:0012208 "Orphanet:281190 MESH:C563781 UMLS:C3665704 OMIM:609165 SCTID:703 UBERON:0003390 MONDO:0005191 "A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." "SCTID:443493003 UMLS:C0278883 NCIT:C8925 EFO:0002617" MONDO:0056806 "A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma." "SCTID:723301009 NCIT:C133254 DOID:0080521" -MONDO:0002303 "Blockage of the central retinal vein." "ICD10:H34.81 Orphanet:411527 DOID:2450 SCTID:68478007 ICD9:362.35 NCIT:C118859 UMLS:C0154841" +MONDO:0002303 "Blockage of the central retinal vein." "Orphanet:411527 DOID:2450 SCTID:68478007 ICD9:362.35 NCIT:C118859 UMLS:C0154841" MONDO:0008833 "Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene." "OMIM:208540 UMLS:C3715199 UMLS:C2673883 Orphanet:294415" -MONDO:0006820 "Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity." "MESH:D007673 SCTID:444691002 ICD10:N17.1 DOID:2973 EFO:1001003 MedDRA:10023414 ICD9:583.6" -MONDO:0005080 "Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly." "UMLS:C0020541 DOID:10762 SCTID:34742003 NCIT:C3119 EFO:0000666 GARD:0008229 ICD10:K76.6 ICD9:572.3 MESH:D006975" +MONDO:0006820 "Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity." "MESH:D007673 SCTID:444691002 DOID:2973 EFO:1001003 MedDRA:10023414 ICD9:583.6" +MONDO:0005080 "Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly." "UMLS:C0020541 DOID:10762 SCTID:34742003 NCIT:C3119 EFO:0000666 GARD:0008229 ICD10CM:K76.6 ICD9:572.3 MESH:D006975" MONDO:0008986 "UMLS:C1859089 OMIM:215550 MESH:C565847" MONDO:0005880 "Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans." "SCTID:22500005 ICD9:127.7 DOID:3983 MESH:D009814 EFO:0007400 UMLS:C0028887" GO:0014063 "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of serotonin." MONDO:0012207 "OMIM:609164 MESH:C537059 GARD:0009490 UMLS:C1836682" GO:0001818 "Any process that stops, prevents, or reduces the rate of production of a cytokine." http://identifiers.org/hgnc/23212 -MONDO:0013662 "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" "MESH:D001471 ICD10:K22.70 ICD10:K22.7 Orphanet:1232 ICD9:530.85 EFO:0000280 OMIM:614266 SCTID:196609006 Orphanet:99976 DOID:9206 NCIT:C2891" +MONDO:0013662 "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" "MESH:D001471 Orphanet:1232 ICD9:530.85 EFO:0000280 OMIM:614266 SCTID:196609006 Orphanet:99976 DOID:9206 NCIT:C2891" MONDO:0014780 "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene." "UMLS:C4225201 OMIM:616809" NCBITaxon:116704 "GC_ID:1" -MONDO:0009993 "A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis." "ICD9:171.9 Orphanet:780 HP:0006743 DOID:3246 Orphanet:99757 ONCOTREE:ERMS OMIM:268210 SCTID:404051002 ICDO:8910/3 MedDRA:10065868 GARD:0004702 UMLS:C0206656 EFO:0000437 NCIT:C8971 ICD10:C49.9" +MONDO:0009993 "A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis." "ICD9:171.9 Orphanet:780 HP:0006743 DOID:3246 Orphanet:99757 ONCOTREE:ERMS OMIM:268210 SCTID:404051002 ICDO:8910/3 MedDRA:10065868 GARD:0004702 UMLS:C0206656 ICD10CM:C49.9 EFO:0000437 NCIT:C8971" MONDO:0002930 "A sarcoma involving a kidney." "UMLS:C0346251 SCTID:254918001 NCIT:C4525 ICD9:189.0 DOID:4242" http://identifiers.org/hgnc/8786 -MONDO:0016512 "Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." "GARD:0006810 DOID:0060473 MedDRA:10063935 ICD10:Q87.0 OMIMPS:147920 SCTID:313426007 UMLS:C0796004 NCIT:C124837 OMIM:300867 OMIM:147920 MESH:C537705 Orphanet:2322" +MONDO:0016512 "Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." "ICD10CM:Q87.0 GARD:0006810 DOID:0060473 MedDRA:10063935 OMIMPS:147920 SCTID:313426007 UMLS:C0796004 NCIT:C124837 OMIM:300867 OMIM:147920 MESH:C537705 Orphanet:2322" MONDO:0024881 "A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment." "SCTID:128462008 NCIT:C4968 ICD9:198.89 ICD9:199.1" -MONDO:0013540 "Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." "ICD10:D46.7 Orphanet:3226 GARD:0013030 UMLS:C3279664 OMIM:614038 SCTID:700057001 ICD9:757.0" +MONDO:0013540 "Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." "Orphanet:3226 GARD:0013030 UMLS:C3279664 OMIM:614038 SCTID:700057001 ICD9:757.0" MONDO:0000408 "A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues." "MESH:D063647 UMLS:C2985290 SCTID:609437000 UMLS:CN200663 GARD:0000599 NCIT:C92780 UMLS:CN036067 DOID:0050696" -MONDO:0005823 "Any disease caused by Legionella bacteria." "Orphanet:549 MESH:D007876 MedDRA:10035718 MedDRA:10061266 MESH:D007877 UMLS:C0023240 UMLS:CN205282 SCTID:26726000 DOID:10458 NCIT:C128334 ICD10:A48.1 EFO:0007342" +MONDO:0005823 "Any disease caused by Legionella bacteria." "Orphanet:549 MESH:D007876 MedDRA:10035718 MedDRA:10061266 MESH:D007877 UMLS:C0023240 UMLS:CN205282 SCTID:26726000 DOID:10458 NCIT:C128334 EFO:0007342" HP:0002102 "Inflammation of the pleura." "SNOMEDCT_US:196075003 UMLS:C0032231 MSH:D010998" MONDO:0007528 "OMIM:130090 MESH:C562424 UMLS:C0220679" GO:1902668 "Any process that stops, prevents or reduces the frequency, rate or extent of axon guidance." @@ -9059,23 +9055,23 @@ http://identifiers.org/hgnc/23213 HP:0200000 "Different levels of maturation of different bones." "UMLS:C4020918" UBERON:0002191 GO:0003845 "Catalysis of the reaction: an 11-beta-hydroxysteroid + NAD(P)+ = an 11-oxosteroid + NAD(P)H + H(+)." -MONDO:0000471 "A disease involving the tricuspid valve." "DOID:0050826 ICD10:I07 ICD9:397.0 SCTID:20721001 UMLS:C0264882 NCIT:C78649 UMLS:C0264776 ICD10:I07.9" -MONDO:0014018 "A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2." "DOID:0110806 ICD10:G11.4 UMLS:C3539495 UMLS:C4510083 OMIM:615033 Orphanet:320380 SCTID:723824005" +MONDO:0000471 "A disease involving the tricuspid valve." "DOID:0050826 ICD9:397.0 SCTID:20721001 UMLS:C0264882 NCIT:C78649 UMLS:C0264776" +MONDO:0014018 "A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2." "DOID:0110806 UMLS:C3539495 UMLS:C4510083 OMIM:615033 ICD10CM:G11.4 Orphanet:320380 SCTID:723824005" MONDO:0007521 "OMIM:129905" http://identifiers.org/hgnc/6122 http://identifiers.org/hgnc/6388 -MONDO:0013537 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene." "Orphanet:90636 OMIM:614035 ICD10:H90.3 DOID:0110487 UMLS:C3279660" +MONDO:0013537 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene." "Orphanet:90636 OMIM:614035 DOID:0110487 UMLS:C3279660" http://identifiers.org/hgnc/8783 UBERON:0035650 MONDO:0014605 "DOID:0070066 Orphanet:457284 OMIM:616362" -MONDO:0015884 "Autosomal dominant form of hypohidrotic ectodermal dysplasia." "OMIM:129490 Orphanet:1810 ICD10:Q82.4 OMIM:614940" -MONDO:0001175 "A cataract disease in which the cataract contains some transparent protein" "ICD10:H25.09 SCTID:446474007 UMLS:C2960113 UMLS:C0271163 UMLS:C2939157 DOID:10997" +MONDO:0015884 "Autosomal dominant form of hypohidrotic ectodermal dysplasia." "ICD10CM:Q82.4 OMIM:129490 Orphanet:1810 OMIM:614940" +MONDO:0001175 "A cataract disease in which the cataract contains some transparent protein" "SCTID:446474007 UMLS:C2960113 UMLS:C0271163 UMLS:C2939157 DOID:10997" MONDO:0002117 "A rare malignant soft tissue neoplasm that occurs primarily in the pancreas." "UMLS:C1096346 NCIT:C5715 DOID:1796" GO:0045640 "Any process that modulates the frequency, rate or extent of basophil differentiation." MONDO:0020090 "Orphanet:98313" -MONDO:0012864 "2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." "GARD:0013206 OMIM:612313 UMLS:C4304531 ICD10:Q93.5 SCTID:719659003 DOID:0060428 UMLS:C2676739 Orphanet:251019 MESH:C567350" +MONDO:0012864 "2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features." "GARD:0013206 OMIM:612313 UMLS:C4304531 SCTID:719659003 DOID:0060428 ICD10CM:Q93.5 UMLS:C2676739 Orphanet:251019 MESH:C567350" http://identifiers.org/hgnc/7585 -MONDO:0016047 "An infectious process affecting the internal structures of the eye." "ICD10:H44.1 MESH:D009877 ICD9:360.19 SCTID:1847009 Orphanet:199323 MedDRA:10014801 DOID:4692 UMLS:C0014236 NCIT:C34586 ICD10:H44.0" +MONDO:0016047 "An infectious process affecting the internal structures of the eye." "ICD10CM:H44.1 MESH:D009877 ICD9:360.19 SCTID:1847009 Orphanet:199323 MedDRA:10014801 ICD10CM:H44.0 DOID:4692 UMLS:C0014236 NCIT:C34586" GO:0008228 "The process in which a microorganism (or other particulate material) is rendered more susceptible to phagocytosis by coating with an opsonin, a blood serum protein such as a complement component or antibody." NCBITaxon:139 "PMID:8995796 PMID:24744012 GC_ID:11 PMID:7699027 PMID:1503971 PMID:1380285 PMID:9336916 PMID:7981102" GO:0010676 "Any process that increases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells." @@ -9086,56 +9082,56 @@ MONDO:0015393 "Nasal ganglioglioma is a rare tumor, presenting in newborns, cont MONDO:0032919 "OMIM:618793" MONDO:0025086 "A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age." "UMLS:C0019556 MESH:D006619" http://identifiers.org/hgnc/6121 -MONDO:0013433 "Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure." "OMIM:602114 SCTID:197441003 ICD10:K83.0 GARD:0001280 UMLS:C0566602 Orphanet:171 MedDRA:10036732 DOID:0060643 OMIM:613806" +MONDO:0013433 "Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure." "OMIM:602114 SCTID:197441003 GARD:0001280 UMLS:C0566602 Orphanet:171 ICD10CM:K83.0 MedDRA:10036732 DOID:0060643 OMIM:613806" HsapDv:0000107 "Adolescent stage that refers to an adolescent who is over 13 and under 14 years old." CL:1001569 "An interneuron of the hippocampus." "FMA:84777" MONDO:0005528 "An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process." "DOID:0050718 EFO:0005596" ENVO:01001690 "An object which is composed primarily of a liquid."@en MONDO:0014996 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene." "UMLS:C4310641 OMIM:617270 GARD:0013361" http://identifiers.org/hgnc/24671 -MONDO:0020091 "ICD10:N46 Orphanet:98343" +MONDO:0020091 "ICD10CM:N46 Orphanet:98343" MONDO:0054750 "UMLS:CN842244 OMIM:617892" -MONDO:0020510 "Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding." "ICD10:G95.0 SCTID:725001004 UMLS:C4511700 Orphanet:99858" -MONDO:0009272 "German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." "SCTID:733037000 UMLS:C0265373 Orphanet:2077 ICD10:Q87.8 UMLS:C3887495 MESH:C562543 OMIM:231080" -MONDO:0017267 "Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." "OMIM:242100 Orphanet:281122 OMIM:606545 UMLS:C1855789 ICD10:Q80.2 SCTID:718632004 OMIM:242300" +MONDO:0020510 "Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding." "SCTID:725001004 ICD10CM:G95.0 UMLS:C4511700 Orphanet:99858" +MONDO:0009272 "German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." "SCTID:733037000 UMLS:C0265373 Orphanet:2077 ICD10CM:Q87.8 UMLS:C3887495 MESH:C562543 OMIM:231080" +MONDO:0017267 "Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." "OMIM:242100 Orphanet:281122 OMIM:606545 UMLS:C1855789 ICD10CM:Q80.2 SCTID:718632004 OMIM:242300" NCBITaxon:41828 "GC_ID:1" -MONDO:0012092 "Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." "OMIM:608654 DOID:0070145 GARD:12328 PMID:77656 PMID:14976160 GARD:0012328 SCTID:128206006 ICD10:G60.8 Orphanet:64752 NCIT:C125386" +MONDO:0012092 "Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." "OMIM:608654 DOID:0070145 GARD:12328 PMID:77656 PMID:14976160 GARD:0012328 SCTID:128206006 ICD10CM:G60.8 Orphanet:64752 NCIT:C125386" NCBITaxon:138 "PMID:8863416 PMID:30586413 PMID:27930271 PMID:31836459 PMID:24744012 PMID:30154058 PMID:32320380 GC_ID:11 PMID:31722850 PMID:31454394 PMID:28141502 PMID:8863409" MONDO:0034216 "Orphanet:566231" -MONDO:0017989 "His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality." "ICD10:I47.1 NCIT:C111646 SCTID:233901002 Orphanet:3283 ICD9:427.89 UMLS:C0039235 MESH:D013613 GARD:0002706" +MONDO:0017989 "His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality." "NCIT:C111646 SCTID:233901002 Orphanet:3283 ICD9:427.89 UMLS:C0039235 MESH:D013613 GARD:0002706" MONDO:0000683 "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects." "SCTID:83824009 DOID:0060153" MONDO:0009922 "OMIM:264500 UMLS:C1849648 MESH:C564864" MONDO:0006732 "Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)" "MedDRA:10013916 MESH:D004409 EFO:1000904 ICD9:333.99 GARD:0008236 SCTID:102448004" MONDO:0006895 "A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma." "ONCOTREE:PENIS SCTID:126896003 UMLS:C0030849 EFO:1001094 MedDRA:10061913 NCIT:C3317 DOID:11624 MESH:D010412 ICD9:239.5" http://identifiers.org/hgnc/6120 -MONDO:0008846 "Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." "MESH:C538259 SCTID:111571009 DOID:0050649 ICD10:E88.0 GARD:0009595 NCIT:C125693 Orphanet:1195 OMIM:209300 UMLS:C0521802" +MONDO:0008846 "Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." "MESH:C538259 SCTID:111571009 DOID:0050649 GARD:0009595 NCIT:C125693 Orphanet:1195 OMIM:209300 UMLS:C0521802" HP:0011138 "An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands." "UMLS:C4023518" -MONDO:0004727 "A cancer that involves the oral opening." "ICD10:C06.1 SCTID:187658004 UMLS:C0153374 DOID:9188 ICD9:145.1" +MONDO:0004727 "A cancer that involves the oral opening." "SCTID:187658004 ICD10CM:C06.1 UMLS:C0153374 DOID:9188 ICD9:145.1" MONDO:0007789 "MESH:C564152 UMLS:C1840361 OMIM:145800" http://identifiers.org/hgnc/30304 -MONDO:0020092 "Orphanet:98345 ICD10:N46 UMLS:CN227777" -MONDO:0007388 "Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour." "OMIM:122580 SCTID:725101002 MESH:C536448 ICD10:Q68.8 Orphanet:2391 GARD:0001551" +MONDO:0020092 "Orphanet:98345 ICD10CM:N46 UMLS:CN227777" +MONDO:0007388 "Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour." "OMIM:122580 SCTID:725101002 MESH:C536448 Orphanet:2391 ICD10CM:Q68.8 GARD:0001551" http://identifiers.org/hgnc/7583 MONDO:0000459 "A molecular subtype of glioblastoma characterized by the presence of NF1 mutations." "NCIT:C111695 DOID:0050805 UMLS:C3829122" MONDO:0013581 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene." "DOID:0070032 OMIM:614113 UMLS:C3279842" FOODON:03412846 MONDO:0005970 "Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus." "ICD9:482.4 MESH:D011023 ICD9:482.40 SCTID:22754005 ICD9:482.49 EFO:0007496" -MONDO:0010011 "Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." "NCIT:C99056 ICD10:Q04.6 GARD:0000166 OMIM:269160 Orphanet:799 SCTID:253159001 ICD9:742.4" -MONDO:0010171 "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner." "Orphanet:231169 UMLS:C1848604 OMIM:276904 DOID:0110830 ICD10:H35.5 Orphanet:886 GARD:0005437" +MONDO:0010011 "Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation." "NCIT:C99056 GARD:0000166 ICD10CM:Q04.6 OMIM:269160 Orphanet:799 SCTID:253159001 ICD9:742.4" +MONDO:0010171 "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner." "Orphanet:231169 UMLS:C1848604 OMIM:276904 DOID:0110830 Orphanet:886 GARD:0005437" GO:0070859 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids." -MONDO:0034217 "ICD10:E07.8 Orphanet:566243 OMIM:188570 OMIM:274300" +MONDO:0034217 "ICD10CM:E07.8 Orphanet:566243 OMIM:188570 OMIM:274300" CL:0002232 "An epithelial cell of prostatic duct." "FMA:74224" MONDO:0009088 "UMLS:C1857334 MESH:C565639 OMIM:221700" MONDO:0054752 "OMIM:617898 UMLS:CN842246" -MONDO:0009287 "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency." "Orphanet:364 UMLS:CN205860 ICD10:E74.0 SCTID:444707001 GARD:0007864 UMLS:CN069618 MESH:C538655 OMIM:232200 UMLS:C2919796 Orphanet:79258" +MONDO:0009287 "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency." "Orphanet:364 UMLS:CN205860 SCTID:444707001 GARD:0007864 UMLS:CN069618 MESH:C538655 OMIM:232200 UMLS:C2919796 Orphanet:79258 ICD10CM:E74.0" CHEBI:64909 "Any substance that causes disturbance to organisms by chemical reaction or other activity on the molecular scale, when a sufficient quantity is absorbed by the organism." MONDO:0005254 "A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc" "EFO:0003146" -MONDO:0005440 "A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." "EFO:0004986 GARD:0005140 ICDO:9070/3 NCIT:C3752 ONCOTREE:EMBCA MESH:D018236 UMLS:C0206659 DOID:3308 ICD10:C71.9 ICD10:C22.7 Orphanet:180226" +MONDO:0005440 "A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum)." "EFO:0004986 GARD:0005140 ICDO:9070/3 NCIT:C3752 ICD10CM:C71.9 ICD10CM:C22.7 ONCOTREE:EMBCA MESH:D018236 UMLS:C0206659 DOID:3308 Orphanet:180226" MONDO:0013474 "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene." "OMIM:613873 UMLS:C3151264 DOID:0110323" http://identifiers.org/hgnc/7584 MONDO:0004140 "An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues." "DOID:7202 ICDO:9083/3 NCIT:C4288 UMLS:C0334522" -MONDO:0004842 "Inflammation of the oral mucosa due to local or systemic factors." "ICD9:528.00 NCIT:C26887 ICD9:528.0 MESH:D013280 EFO:1001904 ICD10:K12.1 SCTID:61170000 UMLS:C0038362 UMLS:C1568868 DOID:9637" -MONDO:0014609 "ICD10:Q87.8 UMLS:C4085597 Orphanet:444077 SCTID:764455002 EFO:0009031 OMIM:616368 GARD:0012845" +MONDO:0004842 "Inflammation of the oral mucosa due to local or systemic factors." "ICD9:528.00 NCIT:C26887 ICD9:528.0 MESH:D013280 EFO:1001904 SCTID:61170000 UMLS:C0038362 UMLS:C1568868 DOID:9637" +MONDO:0014609 "ICD10CM:Q87.8 UMLS:C4085597 Orphanet:444077 SCTID:764455002 EFO:0009031 OMIM:616368 GARD:0012845" MONDO:0008989 "GARD:0009949 UMLS:C1859084 MESH:C536207 OMIM:215720" http://identifiers.org/hgnc/17327 GO:0050973 "The series of events involved in equilibrioception in which a mechanical stimulus is received and converted into a molecular signal. During equilibrioception, mechanical stimuli may be in the form of input from pressure receptors or from the labyrinth system of the inner ears." @@ -9156,36 +9152,36 @@ CHR:9606-chr15q13.3 MONDO:0015155 GO:0033363 "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a secretory granule. A secretory granule is a small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion." HP:0004341 "UMLS:C4021658" -MONDO:0017550 "Orphanet:295209 ICD10:Q74.0" +MONDO:0017550 "Orphanet:295209 ICD10CM:Q74.0" CHR:9606-chr21q22.13-q22.2 MONDO:0021666 "A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting." "MESH:D010031 UMLS:C0699744 NCIT:C27193" http://identifiers.org/hgnc/4823 MONDO:0044274 "OBSOLETE. Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014})." "OMIM:609070" -MONDO:0006779 "A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture." "DOID:9768 MESH:D006322 ICD9:414.19 UMLS:C0018789 SCTID:65340007 MedDRA:10002350 EFO:1000959 ICD10:I25.3 ICD9:414.10" +MONDO:0006779 "A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture." "DOID:9768 MESH:D006322 ICD9:414.19 UMLS:C0018789 SCTID:65340007 MedDRA:10002350 EFO:1000959 ICD9:414.10 ICD10CM:I25.3" MONDO:0054742 "UMLS:CN807948 DOID:0111464 OMIM:617873" -MONDO:0008501 "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." "UMLS:CN204001 Orphanet:3205 NCIT:C3391 GARD:0007706 MedDRA:10057653 MedDRA:10042265 UMLS:C0038505 DOID:0111563 ICD9:759.6 MESH:D013341 SCTID:19886006 OMIM:185300 ICD10:Q85.8" +MONDO:0008501 "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." "UMLS:CN204001 Orphanet:3205 NCIT:C3391 GARD:0007706 MedDRA:10057653 MedDRA:10042265 ICD10CM:Q85.8 UMLS:C0038505 DOID:0111563 ICD9:759.6 MESH:D013341 SCTID:19886006 OMIM:185300" MONDO:0033013 "UMLS:C4479619 Orphanet:317 DOID:0080249 OMIM:617525" CHEBI:46725 -MONDO:0016352 "OMIM:607258 OMIM:143870 Orphanet:2197 ICD10:E83.5" +MONDO:0016352 "OMIM:607258 OMIM:143870 Orphanet:2197 ICD10CM:E83.5" MONDO:0011265 "OMIM:602639 UMLS:C1865092 MESH:C566513" -MONDO:0009915 "UMLS:C1849696 ICD10:Q56.2 MESH:C564869 Orphanet:2975 OMIM:264270" +MONDO:0009915 "UMLS:C1849696 MESH:C564869 ICD10CM:Q56.2 Orphanet:2975 OMIM:264270" ECTO:0000526 "An exposure to neurotransmitter." MONDO:0032915 "OMIM:618782" MONDO:0003801 "A squamous cell intraepithelial neoplasia that involves the cornea." "UMLS:C1333159 NCIT:C6093 DOID:6198 SCTID:420835009" http://identifiers.org/hgnc/3625 -MONDO:0006015 "A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency." "Orphanet:100067 SCTID:36102002 MedDRA:10047847 ICD10:A39.1 ICD10:A39.1+ ICD10:E35.1* NCIT:C85225 GARD:0009449 MESH:D014884 ICD9:036.3 UMLS:C0043068 EFO:0007544 DOID:9931" -MONDO:0011610 "An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder." "ICD10:E72.5 Orphanet:243343 MESH:C565278 OMIM:605850 UMLS:C1853892 SCTID:719449007" +MONDO:0006015 "A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency." "Orphanet:100067 SCTID:36102002 MedDRA:10047847 ICD10CM:A39.1 ICD10EXP:A39.1+ NCIT:C85225 GARD:0009449 MESH:D014884 ICD9:036.3 UMLS:C0043068 ICD10EXP:E35.1* EFO:0007544 DOID:9931" +MONDO:0011610 "An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder." "ICD10CM:E72.5 Orphanet:243343 MESH:C565278 OMIM:605850 UMLS:C1853892 SCTID:719449007" http://identifiers.org/hgnc/16380 MONDO:0034212 "Orphanet:565782" -MONDO:0015727 "Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported." "Orphanet:1706 MESH:C538037 SCTID:764619001 GARD:0005313 UMLS:CN035788 ICD10:Q92.1" +MONDO:0015727 "Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported." "Orphanet:1706 ICD10CM:Q92.1 MESH:C538037 SCTID:764619001 GARD:0005313 UMLS:CN035788" HP:0004340 "UMLS:C4021659" -MONDO:0017551 "Orphanet:295211 ICD10:Q74.0" +MONDO:0017551 "ICD10CM:Q74.0 Orphanet:295211" MONDO:0010067 "MESH:C562761 SCTID:234131004 OMIM:271500" MONDO:0015154 http://identifiers.org/hgnc/9713 http://identifiers.org/hgnc/4824 MONDO:0032918 "OMIM:618792" -MONDO:0014603 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene." "ICD10:H90.3 OMIM:616357 DOID:0110566 UMLS:C4084708" +MONDO:0014603 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene." "OMIM:616357 DOID:0110566 UMLS:C4084708" MONDO:0000521 "A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma." "NCIT:C9272 DOID:0050904 ONCOTREE:SACA UMLS:C0948750" MONDO:0010904 "OMIM:600598 MESH:C563470 UMLS:C1833577" UBERON:0035652 @@ -9197,44 +9193,44 @@ MONDO:0030519 "OMIM:619693" CL:0000529 MONDO:0006397 "A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns." "NCIT:C27891 EFO:1000508 ICDO:0000/0 UMLS:C1337036 ONCOTREE:TRCC" http://identifiers.org/hgnc/8515 -MONDO:0012370 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12." "OMIM:609941 GARD:0009918 MESH:C538202 ICD10:H90.3 DOID:0110508" +MONDO:0012370 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12." "OMIM:609941 GARD:0009918 MESH:C538202 DOID:0110508" http://identifiers.org/hgnc/12687 -MONDO:0000958 "Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina." "ICD9:363.05 UMLS:C0154874 ICD10:H30.9 DOID:10176" -MONDO:0019257 "Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." "UMLS:CN205842 ICD10:E83.1 Orphanet:79230 OMIM:613313 MESH:C537247 DOID:0111034 OMIM:602390 SCTID:50855007 GARD:0010092" +MONDO:0000958 "Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina." "ICD9:363.05 UMLS:C0154874 DOID:10176" +MONDO:0019257 "Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." "UMLS:CN205842 Orphanet:79230 OMIM:613313 MESH:C537247 DOID:0111034 OMIM:602390 SCTID:50855007 GARD:0010092 ICD10CM:E83.1" GO:0070092 "Any process that modulates the frequency, rate or extent of the regulated release of glucagon." -MONDO:0019946 "Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia." "Orphanet:97231 MedDRA:10071570 OMIM:217090 SCTID:403435005 ICD10:H10.4 ICD9:372.39 UMLS:C1274789 GARD:0006187" -MONDO:0015153 "ICD10:Q93.9 ICD10:Q93.8 ICD10:Q93.7 ICD10:Q93.4 ICD10:Q93.1 Orphanet:102020 ICD10:Q93.6 ICD10:Q93.5 ICD10:Q93.3 ICD10:Q93.0 ICD10:Q93.2" -MONDO:0012774 "15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." "SCTID:699254009 DOID:0060394 MESH:C567439 ICD10:Q93.5 GARD:0010296 OMIM:612001 Orphanet:199318" +MONDO:0019946 "Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia." "Orphanet:97231 MedDRA:10071570 OMIM:217090 SCTID:403435005 ICD9:372.39 ICD10CM:H10.4 UMLS:C1274789 GARD:0006187" +MONDO:0015153 "ICD10CM:Q93.1 ICD10CM:Q93.3 ICD10CM:Q93.0 ICD10CM:Q93.5 ICD10CM:Q93.7 Orphanet:102020 ICD10CM:Q93.4 ICD10CM:Q93.2 ICD10CM:Q93.9 ICD10CM:Q93.8" +MONDO:0012774 "15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features." "SCTID:699254009 DOID:0060394 MESH:C567439 ICD10CM:Q93.5 GARD:0010296 OMIM:612001 Orphanet:199318" MONDO:0017804 "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures." "Orphanet:314572 UMLS:CN203767" UBERON:0035651 MONDO:0010903 "MESH:C563471 OMIM:600593 UMLS:C1833578" GO:0010876 "Any process in which a lipid is transported to, or maintained in, a specific location." CL:0000035 "A stem cell that self-renews as well as give rise to a single mature cell type." "FMA:70569" -MONDO:0009985 "Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family." "SCTID:724000006 Orphanet:3087 OMIM:268040 GARD:0004685 MESH:C564839 ICD10:Q87.8 UMLS:C1849399" +MONDO:0009985 "Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family." "SCTID:724000006 Orphanet:3087 ICD10CM:Q87.8 OMIM:268040 GARD:0004685 MESH:C564839 UMLS:C1849399" http://identifiers.org/hgnc/13886 GO:1903708 "Any process that activates or increases the frequency, rate or extent of hemopoiesis." MONDO:0033015 "OMIM:617526 Orphanet:316 DOID:0080251 OMIM:617756" GO:0099124 "The regulated release of dopamine from an axon." MONDO:0032917 "OMIM:618787" CHEBI:46723 -MONDO:0013664 "UMLS:C1839840 DOID:0111773 ICD10:E29.1 SCTID:49013001 Orphanet:90796 OMIM:614279 Orphanet:443087 MESH:C564109" -MONDO:0011152 "3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" "DOID:0050722 ICD10:E72.8 MESH:C566618 OMIM:601815 UMLS:C0580190 Orphanet:79351 UMLS:C1866174" +MONDO:0013664 "UMLS:C1839840 ICD10CM:E29.1 DOID:0111773 SCTID:49013001 Orphanet:90796 OMIM:614279 Orphanet:443087 MESH:C564109" +MONDO:0011152 "3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" "DOID:0050722 MESH:C566618 OMIM:601815 UMLS:C0580190 Orphanet:79351 ICD10CM:E72.8 UMLS:C1866174" MONDO:0011267 "MESH:C566429 UMLS:C1864549 OMIM:602685" MONDO:0009913 "MESH:C562894 OMIM:264140 UMLS:C0403551 SCTID:236529001" -MONDO:0010749 "Trigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out." "MESH:C536620 SCTID:733066002 ICD10:Q87.0 GARD:0000243 OMIM:314320 Orphanet:3369" +MONDO:0010749 "Trigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out." "MESH:C536620 SCTID:733066002 GARD:0000243 ICD10CM:Q87.0 OMIM:314320 Orphanet:3369" http://identifiers.org/hgnc/8516 PATO:0001405 "A nucleate quality inhering in a bearer by virtue of the bearer's having no nucleus." HP:0002435 "Protrusion of the meninges through a defect of the vertebral column." "MSH:D008588 UMLS:C0025299 SNOMEDCT_US:171131006" UBERON:0006723 http://identifiers.org/hgnc/21086 MONDO:0014863 "OMIM:617011 UMLS:C4310766" -MONDO:0009299 "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." "DOID:14450 Orphanet:243 OMIM:300833 OMIM:614324 UMLS:C0949595 OMIM:611812 OMIMPS:233300 OMIM:278850 OMIM:233300 SCTID:95198001 MESH:D023961 NCIT:C120197 ICD10:Q99.1 OMIM:400045 OMIM:300510" +MONDO:0009299 "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." "DOID:14450 Orphanet:243 OMIM:300833 OMIM:614324 UMLS:C0949595 OMIM:611812 OMIMPS:233300 OMIM:278850 OMIM:233300 SCTID:95198001 MESH:D023961 NCIT:C120197 OMIM:400045 OMIM:300510" MONDO:0005470 "Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines." "EFO:0005253" MONDO:0033010 "Orphanet:317 Orphanet:495 Orphanet:316 DOID:0111195 UMLS:C0265961 OMIM:133200" http://identifiers.org/hgnc/17582 MONDO:0032912 "OMIM:618779" MONDO:0060642 "UMLS:CN800196 OMIM:617865" -MONDO:0011705 "A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites." "OMIM:606690 ICD10:J84.81 ICDO:9174/1 NCIT:C38153 NCIT:C3725" +MONDO:0011705 "A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites." "ICD10CM:J84.81 OMIM:606690 ICDO:9174/1 NCIT:C38153 NCIT:C3725" NCBITaxon:1392 "PMID:8123566 GC_ID:11" MONDO:0003089 "A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts." "DOID:4681 NCIT:C5862 UMLS:C1332552" MONDO:0013665 "Orphanet:307 OMIM:614280 DOID:0111328" @@ -9247,7 +9243,7 @@ CL:1001433 "An epithelial cell of the exocrine pancreas." "FMA:70986" GO:2000468 "Any process that modulates the frequency, rate or extent of peroxidase activity." MONDO:0008665 "Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983." "UMLS:C1860403 Orphanet:2997 OMIM:193240 GARD:0000427 MESH:C536923" UBERON:0010221 -MONDO:0004614 "Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites." "ICD9:206.10 SCTID:188745007 UMLS:C0023466 MESH:D007951 DOID:8593 ICD9:206.11 ICD10:C93.1 NCIT:C34774 ICD9:206.1" +MONDO:0004614 "Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites." "ICD9:206.10 SCTID:188745007 UMLS:C0023466 MESH:D007951 DOID:8593 ICD9:206.11 NCIT:C34774 ICD9:206.1" MONDO:0054748 "OMIM:617883" UBERON:0004327 http://identifiers.org/hgnc/4827 @@ -9272,7 +9268,7 @@ MONDO:0030518 "OMIM:619692" GO:0061983 "A process that coontributes to the second meiotic division. The second meiotic division separates chromatids resulting in a haploid number of chromosomes." UBERON:0010222 MONDO:0009810 "Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait." "UMLS:C4275111 UMLS:C1850143 GARD:0004299 MESH:C536052 SCTID:715487005 OMIM:259610 GARD:0004144 Orphanet:2776" -MONDO:0017320 "Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder." "NCIT:C99015 Orphanet:2880 ICD9:277.89 ICD10:E74.4 OMIM:261650 OMIM:261680 UMLS:C0268194 MESH:C536654 SCTID:5335002" +MONDO:0017320 "Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder." "NCIT:C99015 ICD9:277.89 Orphanet:2880 ICD10CM:E74.4 OMIM:261650 OMIM:261680 UMLS:C0268194 MESH:C536654 SCTID:5335002" MONDO:0021977 "A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy." "SCTID:254705003 UMLS:C0474964 NCIT:C4749 GARD:0002354 ICD9:706.1" MONDO:0060640 "OMIM:617862 UMLS:CN787271" http://identifiers.org/hgnc/19 @@ -9283,11 +9279,11 @@ http://identifiers.org/hgnc/7316 MONDO:0012202 "OMIM:609148" http://identifiers.org/hgnc/12428 MONDO:0000234 "A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash." "DOID:0050051" -MONDO:0018944 "A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor." "Orphanet:59305 MESH:D006828 UMLS:C0020217 SCTID:44782008 ICD10:O01.9 SCTID:609519004 MedDRA:10061988 OMIM:231090 NCIT:C3110 ICD9:630 GARD:0006498 ICD10:O01 ICD10:O01.0 UMLS:C1135868 DOID:3590 NCIT:C4699" -MONDO:0014865 "Orphanet:420702 UMLS:C4310764 ICD10:D70 OMIM:617014" +MONDO:0018944 "A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor." "Orphanet:59305 MESH:D006828 UMLS:C0020217 SCTID:44782008 SCTID:609519004 MedDRA:10061988 OMIM:231090 NCIT:C3110 ICD9:630 GARD:0006498 UMLS:C1135868 DOID:3590 NCIT:C4699" +MONDO:0014865 "Orphanet:420702 ICD10CM:D70 UMLS:C4310764 OMIM:617014" MONDO:0024296 "A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells." "NCIT:C7388" -MONDO:0019988 "Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated." "UMLS:CN206923 Orphanet:97563 ICD10:N05.7" -MONDO:0009672 "Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "NCIT:C118847 Orphanet:70 ICD9:335.11 DOID:12376 GARD:0000198 UMLS:C0700595 ICD10:G12.1 Orphanet:83419 OMIM:253400 UMLS:C0152109 SCTID:54280009" +MONDO:0019988 "Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated." "UMLS:CN206923 Orphanet:97563 ICD10CM:N05.7" +MONDO:0009672 "Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "NCIT:C118847 Orphanet:70 ICD9:335.11 DOID:12376 ICD10CM:G12.1 GARD:0000198 UMLS:C0700595 Orphanet:83419 OMIM:253400 UMLS:C0152109 SCTID:54280009" GO:0002285 "A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response." MONDO:0009918 "UMLS:C1849694 Orphanet:59181 MESH:C535828 OMIM:264420 GARD:0009633" MONDO:0033012 "UMLS:C4479618 DOID:0080248 Orphanet:317 OMIM:617524" @@ -9295,16 +9291,16 @@ MONDO:0024666 "A form of epithelial skin neoplasm without malignant characterist MONDO:0013627 "Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene." "Orphanet:2616 UMLS:C3280146 OMIM:614205" MONDO:0013667 MONDO:0030515 "OMIM:619689" -MONDO:0011006 "Orphanet:447753 ICD10:G11.4 MESH:C536868 OMIM:601162 UMLS:CN237701 DOID:0110824 Orphanet:100990" +MONDO:0011006 "Orphanet:447753 MESH:C536868 ICD10CM:G11.4 OMIM:601162 UMLS:CN237701 DOID:0110824 Orphanet:100990" MONDO:0024522 "Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene." "OMIM:105250 Orphanet:353220 UMLS:C0268398" MONDO:0032914 "OMIM:618781" NCBITaxon:28843 "GC_ID:1" http://identifiers.org/hgnc/6116 -MONDO:0002304 "Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot." "SCTID:1563006 UMLS:C0242666 MESH:D018455 NCIT:C99026 ICD10:D68.59 DOID:2451 HGNC:9456 ICD9:289.81 GARD:0004524" +MONDO:0002304 "Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot." "SCTID:1563006 UMLS:C0242666 MESH:D018455 NCIT:C99026 DOID:2451 HGNC:9456 ICD9:289.81 GARD:0004524" NCBITaxon:721805 "GC_ID:1" -MONDO:0017451 "A non-syndromic brachydactyly that involves the manus." "ICD10:Q71.8 Orphanet:294996" +MONDO:0017451 "A non-syndromic brachydactyly that involves the manus." "Orphanet:294996 ICD10CM:Q71.8" UBERON:0010223 -MONDO:0016609 "Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI." "SCTID:766706007 ICD10:G72.4 Orphanet:247718 UMLS:CN201809" +MONDO:0016609 "Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI." "SCTID:766706007 Orphanet:247718 UMLS:CN201809 ICD10CM:G72.4" http://identifiers.org/hgnc/18782 MONDO:0001404 "An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)" "DOID:11907 UMLS:C0013568 EFO:1000689 ICD9:686.8 SCTID:85791004 MESH:D004473" CHEBI:35554 "A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume." @@ -9314,9 +9310,9 @@ MONDO:0012469 "MESH:C565202 OMIM:610320 UMLS:C1853196" MONDO:0002678 "A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "NCIT:C8088 UMLS:C0279981 DOID:3520" http://identifiers.org/hgnc/7579 MONDO:0016537 "A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis)." "OMIMPS:308240 UMLS:CN201619 NCIT:C9308 SCTID:277466009 DOID:0060704 MESH:D008232 Orphanet:238510" -MONDO:0008305 "Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae)." "ICD10:Q87.8 SCTID:413936007 Orphanet:1552 MESH:C536221 UMLS:C1867774 UMLS:C1531773 OMIM:176450 DOID:0111546 GARD:0001626 ICD9:759.89" +MONDO:0008305 "Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae)." "ICD10CM:Q87.8 SCTID:413936007 Orphanet:1552 MESH:C536221 UMLS:C1867774 UMLS:C1531773 OMIM:176450 DOID:0111546 GARD:0001626 ICD9:759.89" MONDO:0002188 "A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm." "UMLS:C1520091 NCIT:C40312 DOID:2060" -MONDO:0002076 "Abnormal presence of air in the pleural cavity." "SCTID:36118008 DOID:1673 MESH:D011030 HP:0002107 NCIT:C38006 ICD10:J93.1 ICD9:512.8" +MONDO:0002076 "Abnormal presence of air in the pleural cavity." "SCTID:36118008 DOID:1673 MESH:D011030 HP:0002107 NCIT:C38006 ICD9:512.8" MONDO:0032913 "OMIM:618780" MONDO:0011005 "OMIM:601161 UMLS:C1832677 MESH:C563382" MAXO:0000002 "All manners of treatment, be they pharmaceuticals, invasive procedures, etc. to relieve illness and injury in attempts to bring the body back to its normal state." @@ -9328,70 +9324,70 @@ UBERON:0010224 MONDO:0054749 "OMIM:617885" CL:1001589 "Glandular cell of duodenal epithelium. Example: Enterocytes, Goblet cells, enteroendocrine cells; Paneth cells; M cells; Brunner's gland cell." "CALOHA:TS-1275" NCBITaxon:73421 "GC_ID:1" -MONDO:0010073 "Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." "SCTID:719202006 MESH:C564796 Orphanet:163665 OMIM:271620 ICD10:Q77.7 UMLS:C1849053" +MONDO:0010073 "Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." "SCTID:719202006 MESH:C564796 Orphanet:163665 OMIM:271620 UMLS:C1849053 ICD10CM:Q77.7" HP:0010975 "A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells." "UMLS:C4021208" http://identifiers.org/hgnc/21082 CL:0002242 "A cell containing at least one nucleus." "FMA:67513" GO:0030885 "Any process that modulates the frequency or rate of myeloid dendritic cell activation." http://identifiers.org/hgnc/8512 UBERON:0003126 -MONDO:0001423 "DOID:1203 ICD9:292.8 ICD9:292.89" -MONDO:0007608 "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential." "GARD:0001820 ICD10:D48.1 UMLS:CN072436 ICDO:8821/1 DOID:0080366 Orphanet:873 UMLS:C1851124 NCIT:C9182 ONCOTREE:DES UMLS:C0079218 OMIM:135290" +MONDO:0001423 "DOID:1203 ICD10CM:F10-F19 ICD9:292.8 ICD9:292.89" +MONDO:0007608 "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential." "GARD:0001820 UMLS:CN072436 ICDO:8821/1 DOID:0080366 Orphanet:873 UMLS:C1851124 NCIT:C9182 ONCOTREE:DES UMLS:C0079218 OMIM:135290 ICD10CM:D48.1" ENVO:01001526 "Soil which is below the freezing point of water." -MONDO:0001689 "UMLS:C0392494 ICD9:529.3 SCTID:6971002 DOID:13333 ICD10:K14.3" +MONDO:0001689 "UMLS:C0392494 ICD9:529.3 SCTID:6971002 DOID:13333 ICD10CM:K14.3" MONDO:0021966 "A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder." "UMLS:C2931659 GARD:0000808 MESH:C537899" -MONDO:0018756 "Orphanet:466682 ICD10:H05.2" +MONDO:0018756 "Orphanet:466682 ICD10CM:H05.2" MONDO:0030513 "OMIM:619687" UBERON:0010225 UBERON:0004323 UBERON:0006984 -MONDO:0019468 "A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line." "GARD:0008224 SCTID:277567002 Orphanet:86871 SCTID:277545003 ICDO:9834/3 MedDRA:10042985 MESH:D015461 UMLS:C2363142 ONCOTREE:TPLL NCIT:C70649 UMLS:C0023494 NCIT:C4752 EFO:1000560 ICD10:C91.6" +MONDO:0019468 "A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line." "GARD:0008224 SCTID:277567002 Orphanet:86871 SCTID:277545003 ICDO:9834/3 MedDRA:10042985 MESH:D015461 UMLS:C2363142 ONCOTREE:TPLL NCIT:C70649 UMLS:C0023494 NCIT:C4752 EFO:1000560" MONDO:0004973 "An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells." "SCTID:707405009 ONCOTREE:LUAS EFO:0000233 ICD9:162.9 UMLS:C0279557 NCIT:C9133 DOID:4829" -MONDO:0017558 "Orphanet:295225 ICD10:Q68.8" -MONDO:0019953 "Orphanet:97252 ICD10:Q07.8" -MONDO:0013357 "A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas." "DOID:0060403 GARD:0005408 Orphanet:137634 UMLS:C3280095 Orphanet:636 SCTID:722122000 Orphanet:139474 OMIM:613675 MESH:C563524 ICD10:Q85.0 Orphanet:97685 ICD10:Q87.3" +MONDO:0017558 "Orphanet:295225 ICD10CM:Q68.8" +MONDO:0019953 "Orphanet:97252 ICD10CM:Q07.8" +MONDO:0013357 "A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas." "DOID:0060403 ICD10CM:Q85.0 GARD:0005408 Orphanet:137634 UMLS:C3280095 Orphanet:636 SCTID:722122000 Orphanet:139474 OMIM:613675 MESH:C563524 ICD10CM:Q87.3 Orphanet:97685" NCBITaxon:1776223 "GC_ID:1" -MONDO:0005365 "A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central." "EFO:0004238 UMLS:C1384666 SCTID:15188001 ICD9:389 NCIT:C35731 ICD9:389.8 MESH:D034381 ICD10:H90 ICD9:389.9" +MONDO:0005365 "A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central." "EFO:0004238 ICD10CM:H90 UMLS:C1384666 SCTID:15188001 NCIT:C35731 ICD9:389 ICD9:389.8 MESH:D034381 ICD9:389.9" MONDO:0024500 "A neuroendocrine neoplasm that involves the duodenum." MONDO:0100244 "An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired." "HP:0004818 SCTID:1963002" UBERON:0005788 -MONDO:0018801 "Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility." "SCTID:275416002 ICD9:752.89 OMIM:300985 MedDRA:10010670 ICD10:Q55.4 OMIMPS:277180 Orphanet:48 OMIM:277180 GARD:0005461" +MONDO:0018801 "Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility." "ICD10CM:Q55.4 SCTID:275416002 ICD9:752.89 OMIM:300985 MedDRA:10010670 OMIMPS:277180 Orphanet:48 OMIM:277180 GARD:0005461" UBERON:0001829 -MONDO:0001688 "ICD10:H46.3 DOID:13329 ICD9:377.34 SCTID:26125006 UMLS:C0155303" -MONDO:0013377 "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene." "Orphanet:2542 OMIM:613704 ICD10:Q11.0 UMLS:C3150969 DOID:0060838" +MONDO:0001688 "ICD10CM:H46.3 DOID:13329 ICD9:377.34 SCTID:26125006 UMLS:C0155303" +MONDO:0013377 "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene." "Orphanet:2542 OMIM:613704 UMLS:C3150969 DOID:0060838" GO:1903026 "Any process that stops, prevents or reduces the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding." CL:0000442 "A cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue. They are unrelated to the dendritic cell associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response." "FMA:83037 BTO:0004267" GO:1905879 "Any process that modulates the frequency, rate or extent of oogenesis." MONDO:0030514 "OMIM:619688" MONDO:0100467 "OMIM:189800" -MONDO:0001620 "An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated." "ICD9:087.0 UMLS:C0152061 NCIT:C128426 SCTID:14683004 ICD10:A68.0 DOID:13035" +MONDO:0001620 "An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated." "ICD9:087.0 UMLS:C0152061 ICD10CM:A68.0 NCIT:C128426 SCTID:14683004 DOID:13035" UBERON:0010227 UBERON:0008281 -MONDO:0004844 "A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." "GARD:0007260 NCIT:C3187 ICD9:528.6 UMLS:C0023532 MESH:D007972 ICD10:K13.2 SCTID:414603003 DOID:9655 ICD10:K13.21" -MONDO:0019952 "ICD10:G71.2 UMLS:C0027127 DOID:0080100 GARD:0005898 Orphanet:97245 MedDRA:10062547 OMIM:255300" -MONDO:0017559 "Orphanet:295227 ICD10:Q68.8" +MONDO:0004844 "A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." "GARD:0007260 NCIT:C3187 ICD9:528.6 UMLS:C0023532 MESH:D007972 SCTID:414603003 DOID:9655" +MONDO:0019952 "UMLS:C0027127 DOID:0080100 GARD:0005898 Orphanet:97245 MedDRA:10062547 OMIM:255300" +MONDO:0017559 "Orphanet:295227 ICD10CM:Q68.8" NCBITaxon:11709 "GC_ID:1" HP:0011563 "An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta." "UMLS:C4023296" NCBITaxon:5094 "GC_ID:1" http://identifiers.org/hgnc/12682 MONDO:0013163 "Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene." "DOID:0111117 OMIM:613159 UMLS:C3150419 Orphanet:655" -MONDO:0010404 "X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems." "UMLS:C2678048 SCTID:766818009 ICD10:G11.0 OMIM:300703 Orphanet:314978 MESH:C567478" -MONDO:0001687 "UMLS:C0011876 DOID:13328 ICD10:H28.0 ICD9:366.41 SCTID:43959009" +MONDO:0010404 "X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems." "ICD10CM:G11.0 UMLS:C2678048 SCTID:766818009 OMIM:300703 Orphanet:314978 MESH:C567478" +MONDO:0001687 "UMLS:C0011876 DOID:13328 ICD9:366.41 SCTID:43959009" MONDO:0010271 "X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia." "MESH:C564561 Orphanet:456328 OMIM:300219 UMLS:C1846169" MONDO:0041295 "Acute form of kidney papillary necrosis." "SCTID:270494003" HP:0000969 "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." "SNOMEDCT_US:20741006 SNOMEDCT_US:423666004 SNOMEDCT_US:79654002 UMLS:C0013604 MSH:D004487 SNOMEDCT_US:267038008" MONDO:0019213 "A inherited organic acidemia that involves the brain." "Orphanet:79158" -MONDO:0018754 "ICD9:989.0 Orphanet:466670 SCTID:66207005 ICD10:T65.0 UMLS:CN242145" +MONDO:0018754 "ICD9:989.0 Orphanet:466670 SCTID:66207005 UMLS:CN242145" UBERON:0003128 -MONDO:0011169 "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities." "UMLS:C1866029 ICD10:Q82.8 Orphanet:281201 OMIM:601952 SCTID:763775000 MESH:C566600" +MONDO:0011169 "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities." "UMLS:C1866029 Orphanet:281201 OMIM:601952 SCTID:763775000 ICD10CM:Q82.8 MESH:C566600" MONDO:0032910 "OMIM:618776" CHEBI:33552 MONDO:0043707 "A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma." "UMLS:C0025061 NCIT:C26826 SCTID:49483002 MESH:D008477" GO:0003354 "Any process that decreases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium." GO:1903561 "Any vesicle that is part of the extracellular region." MONDO:0024632 "SCTID:234578009 UMLS:C0398733" -MONDO:0004285 "A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations." "DOID:7574 ICD10:C25.3 Orphanet:424058 NCIT:C5725 UMLS:C1335304" -MONDO:0019311 "Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi." "ICD10:D23.4 OMIM:162900 Orphanet:79414 UMLS:C0343114 SCTID:239124001" +MONDO:0004285 "A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations." "DOID:7574 ICD10CM:C25.3 Orphanet:424058 NCIT:C5725 UMLS:C1335304" +MONDO:0019311 "Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi." "OMIM:162900 Orphanet:79414 UMLS:C0343114 ICD10CM:D23.4 SCTID:239124001" MONDO:0000223 MONDO:0012838 "An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32." "UMLS:C2677093 DOID:0110896 MESH:C567380 OMIM:612259" HP:0002900 "An abnormally decreased potassium concentration in the blood." "SNOMEDCT_US:166690008 MSH:D007008 SNOMEDCT_US:43339004 UMLS:C0020621" @@ -9399,69 +9395,69 @@ MONDO:0013891 "Any amyotrophic lateral sclerosis in which the cause of the disea MONDO:0021509 "A benign neoplasm that involves the myocardium." "NCIT:C4607 SCTID:92238001 UMLS:C0347253" HP:0002204 "An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery." "MSH:D011655 UMLS:C0034065 SNOMEDCT_US:59282003" MONDO:8000000 "An infection of the intervertebral disc space." -MONDO:0009621 "Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive." "ICD10:Q87.8 GARD:0003610 OMIM:251250 SCTID:715462003 Orphanet:2522 MESH:C537325 UMLS:C0796066" -MONDO:0017556 "Orphanet:295221 ICD10:Q74.0" +MONDO:0009621 "Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive." "ICD10CM:Q87.8 GARD:0003610 OMIM:251250 SCTID:715462003 Orphanet:2522 MESH:C537325 UMLS:C0796066" +MONDO:0017556 "Orphanet:295221 ICD10CM:Q74.0" MONDO:0002318 "A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "NCIT:C3419 NCIT:C6049 DOID:248 UMLS:C1336772 SCTID:126703006" MONDO:0005939 "Infections produced by reoviruses, general or unspecified." "EFO:0007464 MESH:D012088 UMLS:C0035112" -MONDO:0012020 "The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome." "MESH:C567224 DOID:0060436 GARD:0010557 ICD9:758.5 Orphanet:1727 ICD10:Q92.3 SCTID:699311001 UMLS:C2675369 OMIM:608363" +MONDO:0012020 "The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome." "MESH:C567224 DOID:0060436 GARD:0010557 ICD9:758.5 Orphanet:1727 SCTID:699311001 UMLS:C2675369 OMIM:608363" MONDO:0006159 "A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." "UMLS:C1333109 EFO:1000192 NCIT:C27735" NCBITaxon:4734 "GC_ID:1 PMID:26350789" MONDO:0001686 "ICD9:365.02 DOID:13327" -MONDO:0019877 "Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed." "SCTID:763272003 ICD10:Q92.3 Orphanet:96094" +MONDO:0019877 "Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed." "SCTID:763272003 Orphanet:96094" GO:0008395 "Catalysis of the formation of a hydroxyl group on a steroid by incorporation of oxygen from O2." MONDO:0000685 "An inability to recognize or interpret objects by sight." "SCTID:25762009 DOID:0060155 HP:0030222 NCIT:C35276" MONDO:0019298 "OBSOLETE. Rare urticaria." "Orphanet:79384" MONDO:0024263 "Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn." "SCTID:276533002 NCIT:C118312 UMLS:C0349468" MONDO:0030512 "OMIM:619686" MONDO:0006505 "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis)." "EFO:1000640 UMLS:C0751739 DOID:10991 MESH:D020144" -MONDO:0015451 "Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities." "ICD10:Q20.4 MedDRA:10045545 Orphanet:1464 SCTID:253283000 ICD9:746.89" +MONDO:0015451 "Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities." "MedDRA:10045545 Orphanet:1464 SCTID:253283000 ICD9:746.89" MONDO:0006792 "Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years." "UMLS:C0034151 DOID:3325 EFO:1000972 MESH:D011694 SCTID:402852007" MONDO:0005873 "Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)" "EFO:0007393 UMLS:C0752342 MESH:D020953 DOID:13565" -MONDO:0009688 "Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles." "OMIM:159400 ICD10:G70.0 DOID:437 MESH:D009157 GARD:0007122 ICD9:358.0 ICD9:358.00 OMIM:254200 NCIT:C60989 MedDRA:10028417 UMLS:C0026896 ICD10:G70.00 Orphanet:589 EFO:0004991 SCTID:91637004 OMIM:607085" -MONDO:0000819 "A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus." "NCIT:C84560 OMIMPS:206500 ICD10:00.0 Orphanet:1048 OMIM:206500 DOID:0060668" -MONDO:0012679 "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene." "DOID:0110945 ICD10:Q78.2 Orphanet:210110 MESH:C566931 OMIM:611497 GARD:0004156 UMLS:C1969093" -MONDO:0004566 "Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies." "UMLS:C0032763 SCTID:80193009 ICD10:K91.1 ICD9:564.2 DOID:8439 MESH:D011178" +MONDO:0009688 "Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles." "OMIM:159400 DOID:437 ICD10CM:G70.0 MESH:D009157 GARD:0007122 ICD9:358.0 ICD9:358.00 OMIM:254200 NCIT:C60989 MedDRA:10028417 UMLS:C0026896 Orphanet:589 EFO:0004991 SCTID:91637004 OMIM:607085" +MONDO:0000819 "A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus." "NCIT:C84560 OMIMPS:206500 Orphanet:1048 OMIM:206500 DOID:0060668" +MONDO:0012679 "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene." "DOID:0110945 ICD10CM:Q78.2 Orphanet:210110 MESH:C566931 OMIM:611497 GARD:0004156 UMLS:C1969093" +MONDO:0004566 "Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies." "UMLS:C0032763 SCTID:80193009 ICD9:564.2 DOID:8439 MESH:D011178" GO:0017148 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA." -MONDO:0018768 "Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." "OMIM:120100 OMIMPS:120100 Orphanet:47045 OMIM:616115 UMLS:CN230757 ICD10:L50.2 UMLS:C0343068 NCIT:C119053 MedDRA:10064570 DOID:0090061 GARD:0009535" -MONDO:0010061 "MESH:C537309 Orphanet:95433 DOID:0111612 ICD10:G11.1 GARD:0009971 OMIM:271250 UMLS:C1849094" -MONDO:0017557 "Orphanet:295223 ICD10:Q74.0" +MONDO:0018768 "Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." "OMIM:120100 OMIMPS:120100 Orphanet:47045 OMIM:616115 UMLS:CN230757 UMLS:C0343068 ICD10CM:L50.2 NCIT:C119053 MedDRA:10064570 DOID:0090061 GARD:0009535" +MONDO:0010061 "MESH:C537309 Orphanet:95433 DOID:0111612 GARD:0009971 OMIM:271250 ICD10CM:G11.1 UMLS:C1849094" +MONDO:0017557 "Orphanet:295223 ICD10CM:Q74.0" MONDO:0005175 "Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." "EFO:0002498" ECTO:0001055 "A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of air." http://identifiers.org/hgnc/12680 MONDO:0014260 "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene." "Orphanet:1572 OMIM:615577 Orphanet:293978 UMLS:C3809991" UBERON:0003388 -MONDO:0011533 "An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene." "DOID:0050814 OMIM:605282 Orphanet:363417 MESH:C536958 UMLS:C1854466 GARD:0009679 ICD10:Q87.2" -MONDO:0001685 "UMLS:C0155147 ICD9:372.12 ICD10:H10.43 DOID:13326 SCTID:39429002" +MONDO:0011533 "An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene." "ICD10CM:Q87.2 DOID:0050814 OMIM:605282 Orphanet:363417 MESH:C536958 UMLS:C1854466 GARD:0009679" +MONDO:0001685 "UMLS:C0155147 ICD9:372.12 DOID:13326 SCTID:39429002" MONDO:0006504 "An instance of metabolic disease that is acquired during the lifetime of the individual." "DOID:0060158 EFO:1000639" http://identifiers.org/hgnc/2689 CL:0000127 "A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from 'star' cells) are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury." "CALOHA:TS-0060 FMA:54537 BTO:0000099" -MONDO:0018752 "Orphanet:466650 ICD10:T88.3 SCTID:735907005" +MONDO:0018752 "Orphanet:466650 ICD10CM:T88.3 SCTID:735907005" http://identifiers.org/hgnc/9719 MONDO:0003216 "A carcinoma that arises from glandular epithelial cells of the ureter" "NCIT:C6155 DOID:4938 UMLS:C1336873" UBERON:0001826 -MONDO:0005576 "Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause." "NCIT:C26736 GARD:0006217 ICD9:273.2 EFO:0005846 UMLS:C0010403 DOID:2917 SCTID:30911005 MESH:D003449 ICD10:D89.1" -MONDO:0016356 "Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement)." "NCIT:C116791 GARD:0009751 ICD10:M34.0 Orphanet:220393" -MONDO:0016357 "GARD:0002022 UMLS:CN201209 ICD10:M89.8 Orphanet:2204" +MONDO:0005576 "Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause." "NCIT:C26736 GARD:0006217 ICD9:273.2 EFO:0005846 UMLS:C0010403 DOID:2917 SCTID:30911005 MESH:D003449 ICD10CM:D89.1" +MONDO:0016356 "Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement)." "ICD10CM:M34.0 NCIT:C116791 GARD:0009751 Orphanet:220393" +MONDO:0016357 "GARD:0002022 UMLS:CN201209 Orphanet:2204 ICD10CM:M89.8" GO:1902019 "Any process that modulates the frequency, rate or extent of cilium-dependent cell motility." UBERON:0003122 MONDO:0000221 -MONDO:0011822 "Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." "SCTID:700111000 GARD:0009659 OMIM:607364 Orphanet:93605 Orphanet:112 ICD10:E26.8 DOID:0110144 UMLS:C1846343" +MONDO:0011822 "Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." "SCTID:700111000 ICD10CM:E26.8 GARD:0009659 OMIM:607364 Orphanet:93605 Orphanet:112 DOID:0110144 UMLS:C1846343" MONDO:0015159 "UMLS:CN228396 Orphanet:102283" -MONDO:0019224 "An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process." "Orphanet:79175 ICD10:E72.8 UMLS:CN227591" +MONDO:0019224 "An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process." "Orphanet:79175 ICD10CM:E72.8 UMLS:CN227591" http://identifiers.org/hgnc/10024 GO:0043143 "Any process in which proteins and protein complexes involved in translation are transported to, or maintained in, a specific location." GO:0032868 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms." NCIT:C53637 -MONDO:0016712 "Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia." "NCIT:C54039 Orphanet:251867 ICD10:C71.6 UMLS:C1707400 OMIM:155255 SCTID:699704002" +MONDO:0016712 "Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia." "NCIT:C54039 Orphanet:251867 ICD10CM:C71.6 UMLS:C1707400 OMIM:155255 SCTID:699704002" UBERON:0009482 -MONDO:0017554 "Orphanet:295217 ICD10:Q74.0 UMLS:CN203290" +MONDO:0017554 "Orphanet:295217 ICD10CM:Q74.0 UMLS:CN203290" UBERON:0001825 UBERON:0003387 MONDO:0014504 "Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene." "OMIM:616138 UMLS:C4015307 Orphanet:2855" MONDO:0060649 PO:0009062 "A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046)." "PO_GIT:98 PO_GIT:470 PO_GIT:71" MONDO:0018753 "UMLS:CN242072 Orphanet:466658" -MONDO:0020548 "Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease." "Orphanet:99922 ICD10:H13.3* MedDRA:10067776 ICD10:L12+ SCTID:34250006" +MONDO:0020548 "Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease." "ICD10EXP:L12+ Orphanet:99922 ICD10EXP:H13.3* MedDRA:10067776 SCTID:34250006" FOODON:00002655 HP:0010783 "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." "SNOMEDCT_US:238810007 UMLS:C0016382 SNOMEDCT_US:444827008 SNOMEDCT_US:20255002 SNOMEDCT_US:247441003 SNOMEDCT_US:86735004 MSH:D005483 SNOMEDCT_US:271811009 SNOMEDCT_US:70819003 MSH:D004890 UMLS:C0041834" NCBITaxon:6296 "GC_ID:1" @@ -9471,11 +9467,11 @@ GO:0044248 "The chemical reactions and pathways resulting in the breakdown of su NCBITaxon:544448 "GC_ID:11 PMID:26654112 PMID:29458499" http://identifiers.org/hgnc/12420 http://identifiers.org/hgnc/10023 -MONDO:0017555 "Orphanet:295219 ICD10:Q74.0 UMLS:CN203291" -MONDO:0015158 "ICD10:E85.0 Orphanet:102237 UMLS:CN197498" +MONDO:0017555 "Orphanet:295219 ICD10CM:Q74.0 UMLS:CN203291" +MONDO:0015158 "ICD10CM:E85.0 Orphanet:102237 UMLS:CN197498" UBERON:0009483 -MONDO:0012740 "Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours." "SCTID:734029004 OMIM:611867 MESH:C567511 Orphanet:261330 UMLS:C4518343 ICD10:Q93.5 DOID:0060413 UMLS:C2678480" -MONDO:0002153 "A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress." "ICD9:704.02 SCTID:39479004 UMLS:C0263518 ICD10:L65.0 NCIT:C112200 DOID:1943" +MONDO:0012740 "Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours." "SCTID:734029004 OMIM:611867 MESH:C567511 Orphanet:261330 UMLS:C4518343 DOID:0060413 ICD10CM:Q93.5 UMLS:C2678480" +MONDO:0002153 "A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress." "ICD9:704.02 SCTID:39479004 UMLS:C0263518 NCIT:C112200 ICD10CM:L65.0 DOID:1943" MONDO:0000220 MONDO:0010900 "GARD:0005593 Orphanet:808 MESH:C536744 OMIM:600546" GO:2000026 "Any process that modulates the frequency, rate or extent of multicellular organismal development." @@ -9499,7 +9495,7 @@ MONDO:0012461 "OMIM:610269" http://identifiers.org/hgnc/10288 UBERON:0009480 MONDO:0015157 "UMLS:CN226610 Orphanet:102024" -MONDO:0017552 "Orphanet:295213 ICD10:Q74.0" +MONDO:0017552 "ICD10CM:Q74.0 Orphanet:295213" MONDO:0004710 "A carcinoma in situ involving a uterus." "SCTID:92788005 DOID:9108 ICD9:233.2 UMLS:C0686237" GO:0002339 "The process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival." MONDO:0000484 @@ -9514,48 +9510,48 @@ SO:0000400 "An attribute describes a quality of sequence." MONDO:0005193 "A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade." "UMLS:C0282612 MESH:D019048 SCTID:254901000 EFO:0002621 NCIT:C4064 MP:0009219" GO:0016853 "Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5." http://identifiers.org/hgnc/29316 -MONDO:0012462 "OMIM:610279 GARD:0010003 ICD10:Q04.3 Orphanet:329329 UMLS:C1853215 MESH:C538092" -MONDO:0011569 "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." "MESH:C537990 ICD10:G60.0 Orphanet:98856 SCTID:725048002 UMLS:C1854154 OMIM:605588 DOID:0110156 GARD:0008548" +MONDO:0012462 "OMIM:610279 ICD10CM:Q04.3 GARD:0010003 Orphanet:329329 UMLS:C1853215 MESH:C538092" +MONDO:0011569 "Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy." "MESH:C537990 Orphanet:98856 SCTID:725048002 ICD10CM:G60.0 UMLS:C1854154 OMIM:605588 DOID:0110156 GARD:0008548" CHR:9606-chr8p23.1 MONDO:0010065 "OMIM:271322 UMLS:C0752121" MONDO:0014851 "Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene." "UMLS:CN847585 UMLS:CN262351 UMLS:CN774236 UMLS:C4310473 OMIM:616963" MONDO:0015156 -MONDO:0017553 "Orphanet:295215 ICD10:Q74.0" +MONDO:0017553 "ICD10CM:Q74.0 Orphanet:295215" ENVO:01001479 "A part of an astronomical body which is primarily composed of a continuous volume of liquid or gaseous material, shaped by one or more environmental processes." UBERON:0001604 MONDO:0011650 "Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene." "Orphanet:98722 OMIM:606217 MESH:C565249" MONDO:0022267 NCBITaxon:6035 "GC_ID:1" MONDO:0005202 "A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms." "SCTID:115665000 ICD9:995.3 NCIT:C41366 UMLS:C1706410 EFO:0002686" -MONDO:0018687 "A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation." "ICD10:G12.2 ICD9:335.21 UMLS:C0917981 DOID:318 EFO:0008864 ICD10:G12.21 SCTID:88923002 NCIT:C85027 Orphanet:454706 MESH:D009134" +MONDO:0018687 "A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation." "ICD9:335.21 UMLS:C0917981 ICD10CM:G12.2 DOID:318 EFO:0008864 ICD10CM:G12.21 SCTID:88923002 NCIT:C85027 Orphanet:454706 MESH:D009134" MONDO:0004154 -MONDO:0020437 "Atrioventricular septal defect with communication at the atrial level only." "MESH:C548006 UMLS:C0031192 GARD:0010695 ICD10:Q21.2 SCTID:17718000 Orphanet:99106 MESH:D006344" -MONDO:0010277 "X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome." "UMLS:C1846145 GARD:0004119 ICD10:Q87.8 DOID:0060826 Orphanet:85286 OMIM:300238 MESH:C537135 SCTID:718900002 UMLS:C4305085" +MONDO:0020437 "Atrioventricular septal defect with communication at the atrial level only." "MESH:C548006 UMLS:C0031192 GARD:0010695 SCTID:17718000 Orphanet:99106 MESH:D006344 ICD10CM:Q21.2" +MONDO:0010277 "X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome." "UMLS:C1846145 GARD:0004119 DOID:0060826 Orphanet:85286 OMIM:300238 MESH:C537135 SCTID:718900002 UMLS:C4305085 ICD10CM:Q87.8" UBERON:0002802 MONDO:0016593 "A type of ataxia that is acquired during the lifetime of the individual." "SCTID:722968003 Orphanet:247242" GO:0048522 "Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level." -MONDO:0010181 "Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." "Orphanet:1876 ICD10:G71.0 SCTID:722060007 OMIM:277320 GARD:0005496" -MONDO:0016276 "High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent." "ICD10:C53.8 ICD10:C53.1 UMLS:CN201066 Orphanet:213777 ICD10:C53.0" -MONDO:0016653 "2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated." "UMLS:CN201882 ICD10:Q93.5 SCTID:763062006 Orphanet:251028" +MONDO:0010181 "Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." "Orphanet:1876 ICD10CM:G71.0 SCTID:722060007 OMIM:277320 GARD:0005496" +MONDO:0016276 "High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent." "ICD10CM:C53.8 UMLS:CN201066 Orphanet:213777 ICD10CM:C53.0 ICD10CM:C53.1" +MONDO:0016653 "2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated." "UMLS:CN201882 SCTID:763062006 ICD10CM:Q93.5 Orphanet:251028" UBERON:0004363 UBERON:0001869 http://identifiers.org/hgnc/18539 MONDO:0100064 "Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa)." -MONDO:0009020 "Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." "GARD:0006953 ICD9:371.55 SCTID:60258001 OMIM:217800 DOID:2565 MESH:D003317 MedDRA:10025406 ICD10:H18.55 Orphanet:98969 ICD10:H18.5 MESH:C537834 UMLS:C0024439 NCIT:C34793" +MONDO:0009020 "Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." "GARD:0006953 ICD9:371.55 SCTID:60258001 OMIM:217800 DOID:2565 MESH:D003317 MedDRA:10025406 ICD10CM:H18.55 Orphanet:98969 ICD10CM:H18.5 MESH:C537834 UMLS:C0024439 NCIT:C34793" MONDO:0006426 "A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord." "UMLS:C1336048 NCIT:C5406 DOID:6872 EFO:1000545" UBERON:0005562 MONDO:0000486 "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck." "DOID:0050845 GARD:0010667 UMLS:C4023011" -MONDO:0009571 "Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene." "OMIM:249000 DOID:0070115 ICD10:Q61.9 Orphanet:564 UMLS:C3714506 MESH:C536133" +MONDO:0009571 "Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene." "OMIM:249000 DOID:0070115 Orphanet:564 UMLS:C3714506 MESH:C536133" MONDO:0022266 ENVO:04000006 "The concentration of carbon dioxide when measured in seawater." MONDO:0024663 "UMLS:C1335481 NCIT:C5277" MONDO:0000628 "A benign neoplasm that involves the central nervous system." "DOID:0060090" GO:0070125 "The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in a mitochondrion." GO:0061370 "The chemical reactions and pathways resulting in the formation of testosterone, an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4 C-5." -MONDO:0045019 "UMLS:C0022927 SCTID:35046003" +MONDO:0045019 "ICD10CM:O85-O92 UMLS:C0022927 SCTID:35046003" MONDO:0002630 "An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable." "UMLS:C0279622 NCIT:C4023 ONCOTREE:SCOS DOID:3377 ICDO:9185/3" -MONDO:0005824 "A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations." "EFO:0007343 MESH:D007877 ICD9:482.84 DOID:10457 ICD10:A48.1 NCIT:C128339 SCTID:195889001" -MONDO:0017276 "Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy." "OMIM:172700 UMLS:C0520716 OMIM:600274 Orphanet:282 OMIM:600795 MedDRA:10068968 DOID:9255 MESH:D057180 ICD10:G31.0 UMLS:C0338451 OMIM:607485 GARD:0008436 NCIT:C84719" +MONDO:0005824 "A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations." "EFO:0007343 MESH:D007877 ICD9:482.84 DOID:10457 NCIT:C128339 SCTID:195889001" +MONDO:0017276 "Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy." "OMIM:172700 UMLS:C0520716 OMIM:600274 Orphanet:282 OMIM:600795 MedDRA:10068968 DOID:9255 MESH:D057180 ICD10CM:G31.0 UMLS:C0338451 OMIM:607485 GARD:0008436 NCIT:C84719" MONDO:0030553 "OMIM:619636" MONDO:0054743 "Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts." "OMIM:617874 UMLS:CN818986" GO:0038024 "Binding specifically to a substance (cargo) to deliver it to a transport vesicle. Cargo receptors span a membrane (either the plasma membrane or a vesicle membrane), binding simultaneously to cargo molecules and coat adaptors, to efficiently recruit soluble proteins to nascent vesicles." @@ -9564,8 +9560,8 @@ MONDO:0003952 "A choriocarcinoma of the central nervous system that occurs in an MONDO:0004494 "A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections." "NCIT:C39931 DOID:8195 UMLS:C1515306" MONDO:0019718 "Orphanet:93465" UBERON:0001606 -MONDO:0011709 "Split-hand/foot malformation mapped to chromosome 2q31." "OMIM:606708 ICD10:Q71.6 NCIT:C75002 UMLS:C0265554 MESH:C564674 DOID:0090022 UMLS:C1847622 Orphanet:2440" -MONDO:0018059 "An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability." "EFO:1001040 Orphanet:33475 UMLS:C0025294 SCTID:192644005 ICD10:G01* MESH:D008585 ICD9:036.0 MedDRA:10027249 MedDRA:10027276 ICD10:A39.0 ICD10:A39.0+ DOID:0080176" +MONDO:0011709 "Split-hand/foot malformation mapped to chromosome 2q31." "OMIM:606708 NCIT:C75002 UMLS:C0265554 MESH:C564674 DOID:0090022 UMLS:C1847622 Orphanet:2440" +MONDO:0018059 "An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability." "EFO:1001040 Orphanet:33475 ICD10CM:A39.0 UMLS:C0025294 SCTID:192644005 ICD10EXP:G01* ICD10EXP:A39.0+ MESH:D008585 ICD9:036.0 MedDRA:10027249 MedDRA:10027276 DOID:0080176" MONDO:0004368 "A meningioma that affects the sphenoorbital region." "NCIT:C5285 UMLS:C1336040 DOID:7819" MONDO:0043240 "A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space." "GARD:0006592 SCTID:80813006 UMLS:C0263725 NCIT:C27039" UBERON:0005563 @@ -9576,10 +9572,10 @@ MONDO:0014340 "Any familial atrial fibrillation in which the cause of the diseas NCBITaxon:9895 "GC_ID:1" SO:1000037 "An extra chromosome." NCBITaxon:7496 "GC_ID:1" -MONDO:0001854 "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus." "ICD10:H04.9 ICD9:375 MESH:D007766 ICD9:375.9 DOID:1400 ICD10:H04 NCIT:C26809 ICD9:375.69 SCTID:31053003 ICD9:375.89" +MONDO:0001854 "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus." "ICD9:375 MESH:D007766 ICD9:375.9 DOID:1400 NCIT:C26809 ICD10CM:H00-H05 ICD9:375.69 SCTID:31053003 ICD9:375.89" UBERON:0004365 -MONDO:0018146 "Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates." "ICD10:H35.5 Orphanet:353344 UMLS:CN204544" -MONDO:0021458 "A benign neoplasm that involves the penis." "NCIT:C3489 UMLS:C0149627 ICD10:D29.0 ICD9:222.1 SCTID:92286008" +MONDO:0018146 "Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates." "ICD10CM:H35.5 Orphanet:353344 UMLS:CN204544" +MONDO:0021458 "A benign neoplasm that involves the penis." "NCIT:C3489 UMLS:C0149627 ICD9:222.1 SCTID:92286008 ICD10CM:D29.0" MONDO:0014059 "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene." "UMLS:C3554592 OMIM:615145 Orphanet:98938" MONDO:0007750 "SCTID:398036000 OMIM:143890 Orphanet:391665" MONDO:0005255 "Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." "Wikipedia:New_York_Heart_Association_Functional_Classification EFO:0003147" @@ -9587,22 +9583,21 @@ UBERON:0001605 http://identifiers.org/hgnc/32952 NCBITaxon:6032 "GC_ID:1" MONDO:0006780 "A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium." "EFO:1000960 UMLS:C0018835 MESH:D006357" -MONDO:0007690 "Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all." "GARD:12949 GARD:0012494 UMLS:C1970109 DOID:0090122 SCTID:709075008 ICD10:E30.1 OMIM:139300 Orphanet:178345 MESH:C000591739 ICD9:259.8" +MONDO:0007690 "Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all." "GARD:12949 GARD:0012494 UMLS:C1970109 ICD10CM:E30.1 DOID:0090122 SCTID:709075008 OMIM:139300 Orphanet:178345 MESH:C000591739 ICD9:259.8" MONDO:0000798 "OBSOLETE. A allergic disease involving a mollusc food product." "DOID:0060523" UBERON:0005564 http://identifiers.org/hgnc/967 GO:0015318 "Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon." UBERON:0002803 -MONDO:0018098 "Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions." "Orphanet:34517 ICD10:G71.0 GARD:0012529 UMLS:C3148763 DOID:0110305" -MONDO:0001659 +MONDO:0018098 "Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions." "Orphanet:34517 ICD10CM:G71.0 GARD:0012529 UMLS:C3148763 DOID:0110305" UBERON:0004100 MONDO:0016986 "Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported." "Orphanet:263435 ICD9:759.6 UMLS:C0406819 SCTID:239144007" GO:0050863 "Any process that modulates the frequency, rate or extent of T cell activation." CHEBI:39447 "Any compound having a pyrimidine as part of its structure." CHR:9606-chr14q24.1-q24.3 -MONDO:0011096 "Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." "Orphanet:229717 OMIM:615214 ICD10:D80.0 OMIM:601495 Orphanet:33110 UMLS:C1832241 OMIM:613502 GARD:0009640 OMIM:613500 OMIM:616941 OMIM:613506 MESH:C538056 OMIM:612692 OMIM:613501" +MONDO:0011096 "Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." "Orphanet:229717 ICD10CM:D80.0 OMIM:615214 OMIM:601495 Orphanet:33110 UMLS:C1832241 OMIM:613502 GARD:0009640 OMIM:613500 OMIM:616941 OMIM:613506 MESH:C538056 OMIM:612692 OMIM:613501" UBERON:0001866 -MONDO:0015660 "Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly." "Orphanet:1665 UMLS:CN237425 SCTID:763717004 ICD10:Q02" +MONDO:0015660 "Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly." "ICD10CM:Q02 Orphanet:1665 UMLS:CN237425 SCTID:763717004" UBERON:0000402 MONDO:0100275 "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene." MONDO:0018518 @@ -9611,20 +9606,20 @@ GO:0051250 "Any process that stops, prevents, or reduces the frequency, rate or http://identifiers.org/hgnc/966 MONDO:0009763 "Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately." "ICD9:786.09 MESH:D010845 OMIM:257500 UMLS:C0031880 SCTID:190966007" UBERON:0000403 -MONDO:0004733 "A primary or metastatic malignant neoplasm that affects the pyriform sinus." "DOID:9235 ICD9:148.1 UMLS:C0153400 ICD10:C12 NCIT:C3531 SCTID:363401000" +MONDO:0004733 "A primary or metastatic malignant neoplasm that affects the pyriform sinus." "DOID:9235 ICD9:148.1 UMLS:C0153400 ICD10CM:C12 NCIT:C3531 SCTID:363401000" MONDO:0019715 "Orphanet:93459 UMLS:CN206620" -MONDO:0005563 "A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene." "ICD10:C80.9 Wikipedia:NUT_midline_carcinoma UMLS:CN237663 ONCOTREE:NMCHN NCIT:C45716 DOID:0060463 EFO:0005783 UMLS:C1707291 Orphanet:443167" +MONDO:0005563 "A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene." "Wikipedia:NUT_midline_carcinoma UMLS:CN237663 ONCOTREE:NMCHN NCIT:C45716 DOID:0060463 EFO:0005783 ICD10CM:C80.9 UMLS:C1707291 Orphanet:443167" MONDO:0020702 ENVO:01000324 "A planetary surface is a surface layer where the solid or liquid material of a planet comes into contact with an atmosphere or outer space." -MONDO:0014186 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene." "ICD10:H35.5 UMLS:C3809503 DOID:0110419 OMIM:615434" -MONDO:0015382 "A cysts and fistulae of the face and oral cavity that involves the lower lip." "ICD10:Q38.0 Orphanet:141064" +MONDO:0014186 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene." "UMLS:C3809503 DOID:0110419 OMIM:615434" +MONDO:0015382 "A cysts and fistulae of the face and oral cavity that involves the lower lip." "ICD10CM:Q38.0 Orphanet:141064" MONDO:0014344 "Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene." "Orphanet:98722 OMIM:615779 UMLS:C4014310" BFO:0000015 "An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t."@en BFO:0000015 "An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t." HP:0005268 "A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy." "UMLS:C0000786 SNOMEDCT_US:17369002 MSH:D000022" MONDO:0003621 "A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide." "DOID:5740 NCIT:C27455 UMLS:C1336009" MONDO:0018519 -MONDO:0019975 "Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management." "GARD:0010014 UMLS:C4317126 MedDRA:10029400 ICD9:265.2 MESH:D010383 Orphanet:97352 ICD10:E52 DOID:8457 EFO:0008570 SCTID:418279001 UMLS:C0030783" +MONDO:0019975 "Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management." "GARD:0010014 UMLS:C4317126 MedDRA:10029400 ICD9:265.2 MESH:D010383 Orphanet:97352 DOID:8457 EFO:0008570 SCTID:418279001 UMLS:C0030783" MONDO:0045013 "A disease or disorder that involves the extraembryonic membrane." "UMLS:C3662139 SCTID:609522002" UBERON:0006761 MONDO:0019714 "Orphanet:93458" @@ -9633,23 +9628,23 @@ MONDO:0020703 "NCIT:C7064" MONDO:0023203 ENVO:01000846 "A crystal which is primarily composed of water ice." UBERON:0001868 -MONDO:0008108 "Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations." "Orphanet:1647 ICD10:Q87.8 OMIM:164180 MESH:C538088 SCTID:403554008 ICD9:759.89 GARD:0000106 UMLS:C0796092" -MONDO:0008490 "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities." "OMIM:184840 ICD10:Q87.5 GARD:0004351 Orphanet:3450 OMIM:277610 SCTID:699313003 DOID:4258 MESH:C537494 MESH:C535776 Orphanet:166100 GARD:0005021 ICD10:Q77.7" -MONDO:0001655 "SCTID:9520006 ICD9:379.55 DOID:13174 MESH:D009759 ICD10:H55.04 UMLS:C0155380" +MONDO:0008108 "Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations." "Orphanet:1647 ICD10CM:Q87.8 OMIM:164180 MESH:C538088 SCTID:403554008 ICD9:759.89 GARD:0000106 UMLS:C0796092" +MONDO:0008490 "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities." "OMIM:184840 GARD:0004351 Orphanet:3450 OMIM:277610 SCTID:699313003 ICD10CM:Q77.7 DOID:4258 MESH:C537494 ICD10CM:Q87.5 MESH:C535776 Orphanet:166100 GARD:0005021" +MONDO:0001655 "SCTID:9520006 ICD9:379.55 ICD10CM:H55.04 DOID:13174 MESH:D009759 UMLS:C0155380" CHEBI:91007 "A carboxylic acic anion obtained by deprotonation of the carboxy group of any aromatic carboxylic acid. Major species at pH 7.3." http://identifiers.org/hgnc/24668 -MONDO:0008246 "Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision." "Orphanet:251295 OMIM:172870 SCTID:723450004 MESH:C566801 UMLS:C1868310 DOID:0111541 ICD10:H35.5" +MONDO:0008246 "Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision." "ICD10CM:H35.5 Orphanet:251295 OMIM:172870 SCTID:723450004 MESH:C566801 UMLS:C1868310 DOID:0111541" CHEBI:24632 "A compound consisting of carbon and hydrogen only." HP:0031263 "Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule." MONDO:0021905 "GARD:0000746" -MONDO:0019424 "X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region." "UMLS:CN227631 Orphanet:85327 ICD10:Q87.8" +MONDO:0019424 "X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region." "UMLS:CN227631 Orphanet:85327 ICD10CM:Q87.8" MONDO:0000115 "A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus." "MESH:D001139 NCIT:C84570 SCTID:253184003" UBERON:0000400 http://identifiers.org/hgnc/23204 http://identifiers.org/hgnc/29561 GO:0099523 "The region of the cytosol consisting of all cytosol that is part of the presynapse." HP:0006504 -MONDO:0017318 "MESH:C537894 Orphanet:2875 SCTID:403545005 ICD10:Q85.8 ICD9:709.09 GARD:0004312" +MONDO:0017318 "MESH:C537894 ICD10CM:Q85.8 Orphanet:2875 SCTID:403545005 ICD9:709.09 GARD:0004312" UBERON:0001601 MONDO:0001902 "An instance of agammaglobulinemia that is present from birth." "ICD9:279.04 DOID:14177 UMLS:C1457897" MONDO:0023200 "GARD:0002407" @@ -9664,11 +9659,11 @@ MONDO:0018517 CHEBI:39745 "A monovalent inorganic anion that consists of phosphoric acid in which one of the three OH groups has been deprotonated." http://identifiers.org/hgnc/30551 HsapDv:0000123 "Adult stage that refers to an adult who is over 29 and under 30." -MONDO:0024665 "SCTID:268229003 ICD9:752.7 ICD10:Q56" +MONDO:0024665 "ICD10CM:Q56 SCTID:268229003 ICD9:752.7" CL:1000428 "A somatic stem cell that is part of the epidermis." "FMA:70541" MONDO:0002767 "OBSOLETE. A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism." MONDO:0020705 "OMIM:182940" -MONDO:0013395 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene." "DOID:0110372 UMLS:C3151001 HGNC:10012 OMIM:613731 ICD10:H35.5 GARD:0010405 MESH:C566706" +MONDO:0013395 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene." "DOID:0110372 UMLS:C3151001 HGNC:10012 OMIM:613731 GARD:0010405 MESH:C566706" MONDO:0044335 "A non-metastasizing neoplasm that arises from the soft tissue." "NCIT:C4242 UMLS:C0334450 SCTID:92069005 ICDO:8800/0" MONDO:0011881 "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene." "UMLS:C2931123 GARD:0009173 OMIM:607654 Orphanet:50942 MESH:C536163" MONDO:0003893 "A benign epithelial neoplasm arising from the rete testis." "UMLS:C1514910 NCIT:C39956 DOID:6483" @@ -9676,19 +9671,19 @@ MONDO:0015002 "Any early infantile epileptic encephalopathy in which the cause o MONDO:0023201 "Orphanet:2058 GARD:0002409" UBERON:0004362 NCBITaxon:2732423 "GC_ID:1" -MONDO:0014831 "UMLS:C4310796 ICD10:E88.1 OMIM:616914 Orphanet:300382" +MONDO:0014831 "UMLS:C4310796 OMIM:616914 ICD10CM:E88.1 Orphanet:300382" NCBITaxon:447135 "GC_ID:1" MONDO:0007755 "UMLS:C1840429 OMIM:144120 MESH:C564173" -MONDO:0013839 "Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene." "UMLS:C3539003 ICD10:G60.8 OMIM:614653 DOID:0070151 Orphanet:314381" -MONDO:0005109 "An infection caused by the human immunodeficiency virus." "ICD10:B20 EFO:0000764 DOID:526 UMLS:C0019693 SCTID:86406008 NCIT:C3108 MESH:D015658 ICD9:042 ICD10:B20.B24 ICD9:042-042.99 ICD10:B20-B20" +MONDO:0013839 "Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene." "UMLS:C3539003 OMIM:614653 DOID:0070151 Orphanet:314381 ICD10CM:G60.8" +MONDO:0005109 "An infection caused by the human immunodeficiency virus." "EFO:0000764 DOID:526 UMLS:C0019693 SCTID:86406008 NCIT:C3108 ICD9:042 MESH:D015658 ICD9:042-042.99 ICD10CM:B20-B20" MONDO:0011238 "OMIM:602497" -MONDO:0004497 "A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis)." "ICD10:A52.9 NCIT:C128414 ICD9:095.8 MESH:C536774 ICD10:A52 UMLS:C0153188 SCTID:72083004 DOID:8200 ICD10:A52.3 ICD9:095.9 ICD9:097.0" -MONDO:0013281 "COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." "ICD10:E77.8 DOID:0070262 OMIM:613489 SCTID:718751000 UMLS:C3150736 GARD:0012412 Orphanet:263501" +MONDO:0004497 "A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis)." "NCIT:C128414 ICD9:095.8 ICD10CM:A52.3 MESH:C536774 UMLS:C0153188 SCTID:72083004 DOID:8200 ICD9:095.9 ICD9:097.0" +MONDO:0013281 "COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." "DOID:0070262 OMIM:613489 SCTID:718751000 UMLS:C3150736 GARD:0012412 ICD10CM:E77.8 Orphanet:263501" CL:0000352 "A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation." GO:0106014 "Any process that modulates the frequency, rate or extent of the inflammatory response to wounding." -MONDO:0020121 "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities." "GARD:0007922 OMIM:310095 OMIM:158800 MESH:D009136 ICD9:359.1 Orphanet:98473 OMIM:310000 OMIM:309950 SCTID:73297009 OMIM:309930 OMIM:159050 UMLS:C0026850 OMIM:600416 MedDRA:10028356 DOID:9884 NCIT:C84910 ICD10:G71.0" +MONDO:0020121 "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities." "GARD:0007922 OMIM:310095 OMIM:158800 MESH:D009136 ICD9:359.1 Orphanet:98473 OMIM:310000 OMIM:309950 SCTID:73297009 OMIM:309930 OMIM:159050 UMLS:C0026850 OMIM:600416 MedDRA:10028356 DOID:9884 ICD10CM:G71.0 NCIT:C84910" GO:1990204 "Any protein complex that possesses oxidoreductase activity." -MONDO:0011907 "Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." "Orphanet:63446 MESH:C564334 ICD10:Q78.8 OMIM:607778 SCTID:720416007 GARD:0010605 DOID:0050604 UMLS:C1843096" +MONDO:0011907 "Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax." "Orphanet:63446 ICD10CM:Q78.8 MESH:C564334 OMIM:607778 SCTID:720416007 GARD:0010605 DOID:0050604 UMLS:C1843096" GO:0045921 "Any process that activates or increases the frequency, rate or extent of exocytosis." HP:0001974 "An abnormal increase in the number of leukocytes in the blood." "MSH:D007964 UMLS:C0023518 SNOMEDCT_US:111583006" NCBITaxon:2732422 "GC_ID:1" @@ -9697,23 +9692,23 @@ MONDO:0001644 "Inflammation of the glomeruli status post infection with nephrito MONDO:0014832 "Orphanet:488635 OMIM:616917 UMLS:C4310794" GO:1900119 "Any process that activates or increases the frequency, rate or extent of execution phase of apoptosis." MONDO:0015182 "Orphanet:104007" -MONDO:0005021 "Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure." "OMIM:115200 KEGG:05414 NCIT:C84673 ICD9:425.4 OMIM:615916 MESH:D002311 SCTID:195021004 HP:0001644 EFO:0000407 ICD10:I42.0 MedDRA:10056370 MP:0002795 DOID:12930 Orphanet:217604 UMLS:C0007193" -MONDO:0018419 "Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities." "SCTID:766767001 Orphanet:401820 ICD10:G11.4 UMLS:CN226126" +MONDO:0005021 "Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure." "OMIM:115200 KEGG:05414 NCIT:C84673 ICD10CM:I42.0 ICD9:425.4 OMIM:615916 MESH:D002311 SCTID:195021004 HP:0001644 EFO:0000407 MedDRA:10056370 MP:0002795 DOID:12930 Orphanet:217604 UMLS:C0007193" +MONDO:0018419 "Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities." "SCTID:766767001 Orphanet:401820 ICD10CM:G11.4 UMLS:CN226126" MONDO:0007756 "Orphanet:409 MedDRA:10071311 GARD:0002824 UMLS:C0263420 HP:0007570 MESH:C538377 OMIM:144150 SCTID:28488007" -MONDO:0006826 "A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" "SCTID:58262005 ICD10:E40 MedDRA:10023504 ICD9:260 EFO:1001009 UMLS:C0022806 MESH:D007732 DOID:13579" +MONDO:0006826 "A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" "SCTID:58262005 MedDRA:10023504 ICD9:260 EFO:1001009 UMLS:C0022806 ICD10CM:E40 MESH:D007732 DOID:13579" MONDO:0008951 "MESH:C565863 OMIM:213950 UMLS:C1859257" GO:0002351 "The synthesis or release of serotonin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels." CL:1000323 "A goblet cell that is part of the epithelium of pyloric gland." "FMA:263061" -MONDO:0019351 "A spina bifida (disease) that is not part of a larger syndrome." "MESH:D016135 OMIM:301410 OMIM:601634 ICD10:Q05.3 GARD:0007673 Orphanet:823 ICD10:Q05.6 MedDRA:10041524 ICD10:Q05.0 ICD10:Q05.4 ICD10:Q05.9 OMIM:182940 ICD10:Q05.2 ICD10:Q05.7 ICD10:Q05.1 ICD10:Q05.8 ICD10:Q05.5" +MONDO:0019351 "A spina bifida (disease) that is not part of a larger syndrome." "ICD10CM:Q05.6 OMIM:601634 GARD:0007673 MESH:D016135 ICD10CM:Q05.2 ICD10CM:Q05.0 ICD10CM:Q05.4 ICD10CM:Q05.7 ICD10CM:Q05.8 Orphanet:823 MedDRA:10041524 OMIM:301410 ICD10CM:Q05.3 OMIM:182940 ICD10CM:Q05.1 ICD10CM:Q05.5 ICD10CM:Q05.9" UBERON:0001860 MONDO:0045011 "SCTID:277905003 UMLS:C0475811" ECTO:9000107 "An exposure to solvent." GO:0050668 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving homocysteine." GO:0098645 "A supramolecular complex that consists of collagen triple helices associated to form a network." ENVO:01000314 "A high osmolarity environment is an environment in which entities are exposed to high concentrations of solutes." -MONDO:0016759 "Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." "Orphanet:2524 OMIM:612389 OMIM:277470 GARD:0010705 OMIM:613811 NCIT:C124057 OMIM:612390 SCTID:715463008 OMIM:617026 ICD10:Q04.3 MESH:C548070 UMLS:C2932714" +MONDO:0016759 "Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." "ICD10CM:Q04.3 Orphanet:2524 OMIM:612389 OMIM:277470 GARD:0010705 OMIM:613811 NCIT:C124057 OMIM:612390 SCTID:715463008 OMIM:617026 MESH:C548070 UMLS:C2932714" MONDO:0002698 "A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells." "NCIT:C39911 UMLS:C1515283 DOID:3579 HP:0000030" -MONDO:0011146 "Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p." "UMLS:C0265449 NCIT:C75458 ICD10:Q99.8 OMIM:601803 GARD:0008421 SCTID:9527009 MESH:C538105 ICD9:758.81 Orphanet:884" +MONDO:0011146 "Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p." "UMLS:C0265449 NCIT:C75458 ICD10CM:Q99.8 OMIM:601803 GARD:0008421 SCTID:9527009 MESH:C538105 ICD9:758.81 Orphanet:884" MONDO:0021343 "A carcinoma that involves the mouth floor." "SCTID:449156009 NCIT:C9319" MONDO:0015181 "Orphanet:104006" NCBITaxon:11974 "GC_ID:1" @@ -9724,36 +9719,36 @@ GO:0015748 "The directed movement of organophosphate esters into, out of or with HP:0010988 "An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade." "UMLS:C4023611" UBERON:0015128 MONDO:0008950 "Orphanet:702 GARD:0007348 MESH:C536318 OMIM:213900" -MONDO:0001594 "An bursitis involving a pathogenic inflammatory response in the calcaneal tendon." "DOID:12857 ICD9:726.71 ICD10:M76.6 UMLS:C0149846" -MONDO:0007112 "Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated." "UMLS:C1387721 MESH:C563239 Orphanet:99092 OMIM:105805 ICD10:Q21.0" -MONDO:0018167 "Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes." "Orphanet:357220 UMLS:CN204615 ICD10:Q82.8 SCTID:765135003" +MONDO:0001594 "An bursitis involving a pathogenic inflammatory response in the calcaneal tendon." "DOID:12857 ICD9:726.71 UMLS:C0149846" +MONDO:0007112 "Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated." "UMLS:C1387721 MESH:C563239 Orphanet:99092 OMIM:105805 ICD10CM:Q21.0" +MONDO:0018167 "Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes." "ICD10CM:Q82.8 Orphanet:357220 UMLS:CN204615 SCTID:765135003" MONDO:0020700 -MONDO:0010533 "Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy." "GARD:0008756 SCTID:702441001 ICD9:277.2 UMLS:C0796028 Orphanet:1187 MESH:C535388 ICD10:E79.8 OMIM:301835 DOID:0050647" +MONDO:0010533 "Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy." "GARD:0008756 SCTID:702441001 ICD9:277.2 ICD10CM:E79.8 UMLS:C0796028 Orphanet:1187 MESH:C535388 OMIM:301835 DOID:0050647" MONDO:0015180 "UMLS:CN197522 Orphanet:104005" GO:0043292 "Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle." PO:0025338 "A plant structure development stage (PO:0009012) that has as primary participant a collective plant structure (PO:0025497)." "PO_GIT:391" MONDO:0014834 "UMLS:C4310792 OMIM:616921" -MONDO:0012439 "Orphanet:261629 OMIM:610205 Orphanet:52 UMLS:C1857761 ICD10:Q44.7" +MONDO:0012439 "Orphanet:261629 OMIM:610205 Orphanet:52 ICD10CM:Q44.7 UMLS:C1857761" MONDO:0013636 "OMIM:614220 Orphanet:186 UMLS:C3280201" MONDO:0011239 "MESH:C566533 OMIM:602499 Orphanet:468672 UMLS:C1865286" -MONDO:0012644 "Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene." "ICD10:Q77.2 UMLS:C1970005 MESH:C566982 OMIM:611263 Orphanet:474 DOID:0110086" +MONDO:0012644 "Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene." "UMLS:C1970005 MESH:C566982 OMIM:611263 Orphanet:474 DOID:0110086" SO:1000045 "A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome." -MONDO:0016710 "Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis." "ONCOTREE:MBEN NCIT:C5407 UMLS:C1334970 Orphanet:251858 ICDO:9471/3 ICD10:C71.6 UMLS:CN201957 OMIM:155255" +MONDO:0016710 "Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis." "ONCOTREE:MBEN NCIT:C5407 UMLS:C1334970 Orphanet:251858 ICDO:9471/3 ICD10CM:C71.6 UMLS:CN201957 OMIM:155255" MONDO:0005363 "A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure." "GARD:0006517 OMIM:616002 OMIM:603965 DOID:1312 OMIM:614131 MESH:D005923 OMIM:616220 OMIM:607832 EFO:0004236 NCIT:C37308 OMIMPS:603278 UMLS:CN043606 OMIM:612551 SCTID:236403004 OMIM:616032 ICD9:582.1 OMIM:613237" -MONDO:0008510 "Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981." "ICD10:Q74.8 SCTID:732955001 UMLS:C1861391 MESH:C566098 GARD:0005077 Orphanet:3246 OMIM:185750" -MONDO:0019152 "Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon." "ICD10:H53.6 OMIM:613411 OMIM:258100 Orphanet:75382 GARD:0010118 MESH:C537743" +MONDO:0008510 "Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981." "ICD10CM:Q74.8 SCTID:732955001 UMLS:C1861391 MESH:C566098 GARD:0005077 Orphanet:3246 OMIM:185750" +MONDO:0019152 "Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon." "OMIM:613411 OMIM:258100 ICD10CM:H53.6 Orphanet:75382 GARD:0010118 MESH:C537743" MONDO:0013255 "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene." "OMIM:613404 Orphanet:2697 DOID:0111354 UMLS:C3150672" UBERON:0015129 CL:2000086 "Any basket cell that is part of a neocortex." CHEBI:50902 "A role played by a chemical compound to induce direct or indirect DNA damage. Such damage can potentially lead to the formation of a malignant tumour, but DNA damage does not lead inevitably to the creation of cancerous cells." MONDO:0021142 "The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported." -MONDO:0011197 "Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy." "MESH:C566575 ICD10:G60.0 UMLS:C1865856 OMIM:602107 SCTID:715645004 Orphanet:84093" +MONDO:0011197 "Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy." "MESH:C566575 ICD10CM:G60.0 UMLS:C1865856 OMIM:602107 SCTID:715645004 Orphanet:84093" MONDO:0020701 "OMIM:112500" -MONDO:0019716 "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome." "NCIT:C94828 ICD10:Q87.3 UMLS:C2986703 Orphanet:93460 UMLS:CN206621" +MONDO:0019716 "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome." "NCIT:C94828 UMLS:C2986703 Orphanet:93460 UMLS:CN206621" UBERON:0001862 -MONDO:0008961 "Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities." "UMLS:C1859198 Orphanet:99948 MESH:C535419 GARD:0001252 DOID:0110185 OMIM:214400 SCTID:715796006 ICD10:G60.0" +MONDO:0008961 "Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities." "UMLS:C1859198 Orphanet:99948 MESH:C535419 GARD:0001252 DOID:0110185 OMIM:214400 SCTID:715796006 ICD10CM:G60.0" MONDO:0007751 "OMIM:144010 SCTID:238081000" -MONDO:0013996 "Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." "OMIM:614973 UMLS:C3554245 ICD10:Q82.8 Orphanet:398166 Orphanet:398173" +MONDO:0013996 "Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities." "ICD10CM:Q82.8 OMIM:614973 UMLS:C3554245 Orphanet:398166 Orphanet:398173" http://identifiers.org/hgnc/6158 MONDO:0021524 "A benign neoplasm that involves the buccal mucosa." "NCIT:C4406 ICD9:210.4 UMLS:C0345566 SCTID:92039003" MONDO:0002447 "A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation." "SCTID:254878006 UMLS:C0476089 ONCOTREE:UCEC DOID:2871 HP:0012114 NCIT:C7558" @@ -9763,19 +9758,19 @@ MONDO:0015069 "A well differentiated, low or intermediate grade tumor with neuro MONDO:0054763 "OMIM:617916 UMLS:CN895590" http://identifiers.org/hgnc/9751 CHEBI:589779 "The conjugate acid of piperidine; major species at pH 7.3." -MONDO:0005683 "Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases." "DOID:11077 ICD10:A23.8 SCTID:75702008 ICD10:A23.1 ICD10:A23.3 MESH:D002006 ICD10:A23.0 ICD10:A23.2 ICD10:A23 MedDRA:10006500 Orphanet:1304 GARD:0005966 ICD9:023.9 UMLS:C0006309 ICD10:A23.9 ICD9:023 EFO:0007185 NCIT:C84602" +MONDO:0005683 "Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases." "DOID:11077 ICD10CM:A23.8 ICD10CM:A23.2 SCTID:75702008 ICD10CM:A23.1 MESH:D002006 MedDRA:10006500 Orphanet:1304 GARD:0005966 ICD9:023.9 ICD10CM:A23 UMLS:C0006309 ICD10CM:A23.3 ICD10CM:A23.9 ICD10CM:A23.0 ICD9:023 EFO:0007185 NCIT:C84602" MONDO:0000383 "A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor." "UMLS:C1332536 NCIT:C7617 DOID:0050622" -MONDO:0018354 "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities." "UMLS:CN226094 ICD10:Q87.1 Orphanet:398073" +MONDO:0018354 "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities." "UMLS:CN226094 ICD10CM:Q87.1 Orphanet:398073" MONDO:0008956 -MONDO:0014237 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene." "OMIM:615540 DOID:0110524 ICD10:H90.3 UMLS:C3147083 Orphanet:90636" +MONDO:0014237 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene." "OMIM:615540 DOID:0110524 UMLS:C3147083 Orphanet:90636" GO:0140241 "Translation that occurs at the synapse." HP:0100326 "Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens." "UMLS:C0237653" MONDO:0007752 "OMIM:144050 ICD9:286.5 MESH:C562723 UMLS:C3203346 SCTID:79674009" -MONDO:0009054 "OMIM:614434 Orphanet:357058 OMIM:617402 OMIM:219200 UMLS:CN204606 DOID:0070136 ICD10:Q82.8 MESH:C562632 Orphanet:357074 OMIM:617403 SCTID:73856006" +MONDO:0009054 "ICD10CM:Q82.8 OMIM:614434 Orphanet:357058 OMIM:617402 OMIM:219200 UMLS:CN204606 DOID:0070136 MESH:C562632 Orphanet:357074 OMIM:617403 SCTID:73856006" MONDO:0000483 "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes." "DOID:0050842" MONDO:0003350 "An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes." "UMLS:C1333871 NCIT:C27494 DOID:5258" NCBITaxon:68525 "PMID:11837318 GC_ID:11" -MONDO:0007558 "Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes." "OMIM:132090 Orphanet:25968 ICD10:G40.0 GARD:0002170 UMLS:C1851549" +MONDO:0007558 "Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes." "OMIM:132090 ICD10CM:G40.0 Orphanet:25968 GARD:0002170 UMLS:C1851549" http://identifiers.org/hgnc/9752 ENVO:00000134 "Soil or rock and included ice or organic material at or below the freezing point of water (0 degrees Celsius or 32 degrees Fahrenheit) for two or more years." MONDO:0013639 "Orphanet:2073 OMIM:614223" @@ -9784,21 +9779,21 @@ MONDO:0003751 "A germ cell tumor that occurs during childhood." "UMLS:C0279014 D GO:0022411 "A cellular process that results in the breakdown of a cellular component." MONDO:0014837 "UMLS:C4310789 OMIM:616937 Orphanet:480851" CHEBI:49169 "The D-enantiomer of dopa." -MONDO:0010397 "An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy." "Orphanet:209370 MESH:C566878 OMIM:300673 NCIT:C132293 ICD10:Q02 UMLS:C1968556" -MONDO:0007791 "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene." "OMIM:145980 SCTID:704166007 GARD:0002796 UMLS:C0342637 Orphanet:405 DOID:0060700 ICD10:E83.5 MESH:C537145 UMLS:C1809471 Orphanet:93372 MedDRA:10068704" +MONDO:0010397 "An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy." "Orphanet:209370 MESH:C566878 OMIM:300673 NCIT:C132293 ICD10CM:Q02 UMLS:C1968556" +MONDO:0007791 "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene." "OMIM:145980 SCTID:704166007 GARD:0002796 UMLS:C0342637 Orphanet:405 ICD10CM:E83.5 DOID:0060700 MESH:C537145 UMLS:C1809471 Orphanet:93372 MedDRA:10068704" NCBITaxon:2732421 "GC_ID:1" http://identifiers.org/hgnc/6156 -MONDO:0016085 "Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia)." "OMIMPS:112240 ICD10:Q78.0 UMLS:C1862178 DOID:0060438 NCIT:C130985 Orphanet:2050 OMIM:616294 OMIM:112240 GARD:0001425 MESH:C535963" +MONDO:0016085 "Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia)." "OMIMPS:112240 ICD10CM:Q78.0 UMLS:C1862178 DOID:0060438 NCIT:C130985 Orphanet:2050 OMIM:616294 OMIM:112240 GARD:0001425 MESH:C535963" GO:0033119 "Any process that stops, prevents, or reduces the frequency, rate or extent of RNA splicing." MONDO:0054765 "OMIM:617920" -MONDO:0013563 "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene." "UMLS:C3279775 Orphanet:280633 OMIM:614080 GARD:0012781 DOID:0080138 ICD10:Q87.8" -MONDO:0015312 "Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition." "Orphanet:137917 ICD10:Q30.0 UMLS:CN199280" -MONDO:0016836 "16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." "UMLS:C4304596 UMLS:CN202172 Orphanet:261236 ICD10:Q93.5 SCTID:719577000" -MONDO:0016544 "Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate)." "ICD10:K65.8 SCTID:1092381000119100 Orphanet:238593 GARD:0008169" +MONDO:0013563 "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene." "UMLS:C3279775 ICD10CM:Q87.8 Orphanet:280633 OMIM:614080 GARD:0012781 DOID:0080138" +MONDO:0015312 "Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition." "ICD10CM:Q30.0 Orphanet:137917 UMLS:CN199280" +MONDO:0016836 "16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems." "ICD10CM:Q93.5 UMLS:C4304596 UMLS:CN202172 Orphanet:261236 SCTID:719577000" +MONDO:0016544 "Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate)." "SCTID:1092381000119100 Orphanet:238593 ICD10CM:K65.8 GARD:0008169" MONDO:0006930 "A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes." "ICD9:335.23 NCIT:C129934 SCTID:7379000 MESH:D020828 EFO:1001131 UMLS:C0033790 MedDRA:10037114 DOID:12680" MONDO:0008954 "DOID:0080477 OMIM:214110 Orphanet:912 UMLS:C3550273" -MONDO:0006809 "Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases." "ICD10:I66 ICD9:434.10 MESH:D020766 SCTID:75543006 ICD9:434.1 DOID:4372 EFO:1000991" -MONDO:0017366 "Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas)." "GARD:0011984 OMIM:168000 ICD10:D35.0 ICD10:D35.6 OMIM:601650 ICD10:C74.1 OMIM:614165 OMIM:605373 ICD10:C75.5 UMLS:C1708353 OMIM:115310 OMIM:171300 Orphanet:29072" +MONDO:0006809 "Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases." "ICD9:434.10 MESH:D020766 SCTID:75543006 ICD9:434.1 DOID:4372 EFO:1000991" +MONDO:0017366 "Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas)." "GARD:0011984 ICD10CM:C75.5 OMIM:168000 ICD10CM:D35.6 OMIM:601650 OMIM:614165 ICD10CM:D35.0 OMIM:605373 ICD10CM:C74.1 UMLS:C1708353 OMIM:115310 OMIM:171300 Orphanet:29072" MONDO:0002577 "A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts." "UMLS:C2064434 NCIT:C5860 DOID:3254" MONDO:0012554 "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene." "Orphanet:1466 NCIT:C173104 OMIM:610758 Orphanet:191 UMLS:C1853100 MESH:C565184" http://identifiers.org/hgnc/6155 @@ -9808,7 +9803,7 @@ MONDO:0000790 "OBSOLETE. A allergy involving a Salmo salar." "DOID:0060515" MONDO:0054764 "OMIM:617917 UMLS:CN895591" NCBITaxon:41819 "GC_ID:1" GO:0043229 "Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane." -MONDO:0015732 "Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections." "SCTID:734024009 ICD10:Q42.1 Orphanet:171208 ICD10:Q42.0" +MONDO:0015732 "Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections." "ICD10CM:Q42.1 ICD10CM:Q42.0 SCTID:734024009 Orphanet:171208" GO:0005740 "The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space." MONDO:0002066 "A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases." "UMLS:C1510795 ICDO:8983/0 NCIT:C6899 DOID:1642 ONCOTREE:BRAME" MONDO:0008953 "UMLS:C0043459 OMIM:214100 Orphanet:912 DOID:0080476" @@ -9819,16 +9814,16 @@ CHR:9606-chr12q14 MONDO:0014839 "UMLS:C4310787 OMIM:616939" MONDO:0013852 "A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation." "UMLS:C3553442 OMIM:614676 DOID:0110311" GO:0071840 "A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component." -MONDO:0020478 "Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." "OMIM:500001 UMLS:CN207347 UMLS:C4304725 Orphanet:99718 OMIM:165200 ICD10:H47.2 DOID:0111754 SCTID:719430008" +MONDO:0020478 "Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." "OMIM:500001 UMLS:CN207347 UMLS:C4304725 Orphanet:99718 OMIM:165200 ICD10CM:H47.2 DOID:0111754 SCTID:719430008" CL:0002590 "A vascular associated smooth muscle cell of the brain vasculature." -MONDO:0005164 "A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone." "HP:0100244 GARD:0002327 MedDRA:10016632 ICDO:8810/3 ONCOTREE:FIBS UMLS:C0016057 NCIT:C3043 SCTID:443250000 ICD9:171.9 DOID:3355 ICD10:C49.9 EFO:0002087 NCIT:C7075 Orphanet:2030 OMIM:117600" +MONDO:0005164 "A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone." "HP:0100244 GARD:0002327 MedDRA:10016632 ICDO:8810/3 ONCOTREE:FIBS UMLS:C0016057 NCIT:C3043 SCTID:443250000 ICD9:171.9 ICD10CM:C49.9 DOID:3355 EFO:0002087 NCIT:C7075 Orphanet:2030 OMIM:117600" MONDO:0023206 "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion." "NCIT:C45840 Orphanet:506060 GARD:0002414 UMLS:C1708107" FOODON:03411998 "The Decapoda or decapods (literally \"ten-footed\") are an order of crustaceans within the class Malacostraca, including many familiar groups, such as crayfish, crabs, lobsters, prawns, and shrimp. Most decapods are scavengers. [https://en.wikipedia.org/wiki/Decapoda]"@en HP:0001155 "An abnormality affecting one or both hands." "UMLS:C0018564 MSH:D006226 SNOMEDCT_US:299033004" UBERON:0035642 MONDO:0016389 MONDO:0016123 "Orphanet:206982" -MONDO:0018937 "Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration." "NCIT:C84897 UMLS:C0086648 ICD10:E76.22 GARD:0003807 SCTID:88393000 ICD10:E76.2 UMLS:CN205330 NCIT:C84898 OMIM:252900 OMIM:252940 OMIM:252920 DOID:12801 MedDRA:10056890 UMLS:C0086647 NCIT:C61262 UMLS:C0026706 Orphanet:581 OMIM:252930 SCTID:41572006" +MONDO:0018937 "Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration." "NCIT:C84897 UMLS:C0086648 GARD:0003807 SCTID:88393000 UMLS:CN205330 NCIT:C84898 OMIM:252900 OMIM:252940 OMIM:252920 DOID:12801 MedDRA:10056890 UMLS:C0086647 NCIT:C61262 UMLS:C0026706 Orphanet:581 OMIM:252930 SCTID:41572006 ICD10CM:E76.2" GO:1905951 "Any DNA recombination that takes place in mitochondrion." MONDO:0700023 "Chromosomal disorder in which chromosome 16 is affected." MONDO:0003782 "A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm." "NCIT:C40174 DOID:6139 ONCOTREE:UELMS UMLS:C1519851" @@ -9843,12 +9838,12 @@ http://identifiers.org/hgnc/11237 GO:0006366 "The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs)." MONDO:0017275 "Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982." "MESH:C537797 GARD:0000806 UMLS:C2931617 Orphanet:2819 SCTID:763403007" ECTO:9002066 "An exposure to refrigerant." -MONDO:0009611 "3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III)." "ICD10:E71.1 MESH:C565393 OMIM:250951 UMLS:C0574085 GARD:0010342 UMLS:C1855126 Orphanet:67048 SCTID:297233004 DOID:0110006" +MONDO:0009611 "3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III)." "MESH:C565393 OMIM:250951 UMLS:C0574085 GARD:0010342 ICD10CM:E71.1 UMLS:C1855126 Orphanet:67048 SCTID:297233004 DOID:0110006" CL:0002054 "An immature B cell that is IgM-positive, CD45R-positive, CD43-low, CD25-negative, and CD127-negative. This cell type has also been described as being AA4-positive, IgM-positive, CD19-positive, CD43-low/negative, and HSA-positive." MONDO:0016388 MONDO:0054754 "UMLS:CN865669 OMIM:617900" -MONDO:0011008 "Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997." "UMLS:C2931750 SCTID:719456001 OMIM:601165 MESH:C538160 Orphanet:2001 GARD:0003430 ICD10:Q87.8" -MONDO:0016122 "ICD10:G72.3 UMLS:C1279412 HP:0003768 Orphanet:206976 MedDRA:10016208 UMLS:CN231077" +MONDO:0011008 "Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997." "UMLS:C2931750 ICD10CM:Q87.8 SCTID:719456001 OMIM:601165 MESH:C538160 Orphanet:2001 GARD:0003430" +MONDO:0016122 "UMLS:C1279412 HP:0003768 Orphanet:206976 MedDRA:10016208 UMLS:CN231077" MONDO:0004374 "An osteosarcoma arising from the soft tissue, and occurring in adults." "UMLS:C0278985 NCIT:C7925 DOID:7827" NCBITaxon:140713 "GC_ID:1" MONDO:0004384 "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." "NCIT:C6840 DOID:7868 UMLS:C1334645" @@ -9856,7 +9851,7 @@ MONDO:0100242 "An inherited susceptibility or predisposition to developing gliom UBERON:0010230 MONDO:0006222 "A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases." "UMLS:C2987398 NCIT:C95749 EFO:1000269" MONDO:0018782 "Orphanet:477647" -MONDO:0012723 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene." "ICD10:H35.5 OMIM:611755 MESH:C565720 GARD:0010487 DOID:0110291" +MONDO:0012723 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene." "OMIM:611755 MESH:C565720 GARD:0010487 DOID:0110291" UBERON:0011695 GO:0140039 "The attachment of one cell to another cell via adhesion molecules as a result of an extracellular stimulus." NCBITaxon:10780 "GC_ID:1" @@ -9864,17 +9859,17 @@ GO:0061458 "The progression of the reproductive system over time from its format GO:0045939 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving steroids." MONDO:0016387 "UMLS:CN201288 Orphanet:223713" MONDO:0004263 "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children." "NCIT:C6773 DOID:7522 UMLS:C1332972" -MONDO:0015626 "An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs." "NCIT:C75467 MESH:D002607 ICD9:356.1 Orphanet:166 OMIMPS:118220 GARD:0006034 DOID:10595 ICD10:G60.0 MedDRA:10034699 UMLS:C0007959" -MONDO:0016121 "UMLS:C0027127 Orphanet:206973 ICD10:G71.1" +MONDO:0015626 "An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs." "NCIT:C75467 MESH:D002607 ICD9:356.1 Orphanet:166 OMIMPS:118220 ICD10CM:G60.0 GARD:0006034 DOID:10595 MedDRA:10034699 UMLS:C0007959" +MONDO:0016121 "ICD10CM:G71.1 UMLS:C0027127 Orphanet:206973" GO:0009566 "The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy)." -MONDO:0006032 "Inflammation of the urinary bladder." "UMLS:C0010692 ICD10:N30.9 EFO:1000025 MESH:D003556 ICD9:595.9 ICD9:595 ICD9:595.89 DOID:1679 ICD10:N30 SCTID:38822007 NCIT:C26738" -MONDO:0009275 "Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4" "Orphanet:446 UMLS:C0268059 NCIT:C129980 MESH:C536394 GARD:0007172 ICD10:E83.1 OMIM:231100" +MONDO:0006032 "Inflammation of the urinary bladder." "UMLS:C0010692 EFO:1000025 MESH:D003556 ICD9:595.9 ICD9:595 DOID:1679 ICD9:595.89 SCTID:38822007 NCIT:C26738" +MONDO:0009275 "Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4" "ICD10CM:E83.1 Orphanet:446 UMLS:C0268059 NCIT:C129980 MESH:C536394 GARD:0007172 OMIM:231100" MONDO:0019983 "Orphanet:97366 SCTID:86463003" CL:0000209 "A cell type found in the spherical or ovoid clusters of receptor cells found mainly in the epithelium of the tongue and constituting the end organs of the sense of taste." "FMA:67910" -MONDO:0013274 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene." "OMIM:613464 ICD10:H35.5 UMLS:C3150715 DOID:0110398" -MONDO:0001560 "An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration." "SCTID:48644003 EFO:0004707 ICD10:Q40.0 NCIT:C98952 ICD9:750.5 MESH:D046248 DOID:12638" +MONDO:0013274 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene." "OMIM:613464 UMLS:C3150715 DOID:0110398" +MONDO:0001560 "An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration." "SCTID:48644003 ICD10CM:Q40.0 EFO:0004707 NCIT:C98952 ICD9:750.5 MESH:D046248 DOID:12638" UBERON:0010231 -MONDO:0016686 "A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified." "Orphanet:251595 UMLS:C0280785 GARD:0005907 ONCOTREE:DASTR ICD10:C71.9 NCIT:C7173" +MONDO:0016686 "A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified." "Orphanet:251595 UMLS:C0280785 GARD:0005907 ICD10CM:C71.9 ONCOTREE:DASTR NCIT:C7173" SO:0002122 "A germline immunoglobulin gene." MONDO:0010034 "OMIM:270350" MONDO:0008946 "UMLS:C1859283 MESH:C565864 OMIM:213500" @@ -9883,13 +9878,13 @@ http://identifiers.org/hgnc/19721 MONDO:0011231 "UMLS:C1865342 DOID:0111310 OMIM:602477 MESH:C566541" MONDO:0018783 "SCTID:399964004 UMLS:C1302753 ICD9:729.0 Orphanet:477650" SO:0001272 "A noncoding RNA that binds to a specific amino acid to allow that amino acid to be used by the ribosome during translation of RNA." -MONDO:0007949 "Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis." "Orphanet:560 MESH:C536025 OMIM:154780 DOID:0111510 UMLS:C0265235 GARD:0006984 SCTID:33410002 ICD9:759.89 NCIT:C128115 ICD10:Q87.0" +MONDO:0007949 "Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis." "Orphanet:560 MESH:C536025 OMIM:154780 DOID:0111510 UMLS:C0265235 GARD:0006984 SCTID:33410002 ICD10CM:Q87.0 ICD9:759.89 NCIT:C128115" MONDO:0005878 "Onchocerciasis affecting the eye." "MESH:D015827 NCIT:C34862 UMLS:C0029002 SCTID:240842000 EFO:0007398" -MONDO:0016120 "Orphanet:206970 ICD10:G71.1 MESH:D020967 MedDRA:10028658" -MONDO:0013894 "Orphanet:314394 UMLS:C3542022 OMIM:614813 ICD10:Q87.1" -MONDO:0000926 "Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies." "DOID:10034 ICD10:H52.5 ICD9:367.5 UMLS:C0152198 SCTID:54552008" +MONDO:0016120 "Orphanet:206970 MESH:D020967 MedDRA:10028658" +MONDO:0013894 "Orphanet:314394 UMLS:C3542022 ICD10CM:Q87.1 OMIM:614813" +MONDO:0000926 "Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies." "DOID:10034 ICD9:367.5 UMLS:C0152198 SCTID:54552008" UBERON:0010498 -MONDO:0018030 "Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism)." "MESH:C538027 ICD10:Q99.8 Orphanet:3310 GARD:0000042 UMLS:C0795832 SCTID:715530004" +MONDO:0018030 "Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism)." "MESH:C538027 Orphanet:3310 GARD:0000042 UMLS:C0795832 ICD10CM:Q99.8 SCTID:715530004" http://identifiers.org/hgnc/18791 GO:0002244 "The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells." MONDO:0012696 "MESH:C566914 UMLS:C1969046 OMIM:611571" @@ -9897,9 +9892,9 @@ MONDO:0017585 "Orphanet:300501 UMLS:CN203391 GARD:0011006" CHEBI:17478 "A compound RC(=O)H, in which a carbonyl group is bonded to one hydrogen atom and to one R group." MONDO:0022013 "A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part." "SCTID:19995004 GARD:0009261 UMLS:C0238115 MESH:C536571" http://identifiers.org/hgnc/19986 -MONDO:0020087 "Genetic lipodystrophy." "Orphanet:98305 UMLS:C4511302 ICD10:E88.1 SCTID:724841000" +MONDO:0020087 "Genetic lipodystrophy." "Orphanet:98305 UMLS:C4511302 SCTID:724841000 ICD10CM:E88.1" GO:0016879 "Catalysis of the joining of two molecules, or two groups within a single molecule, via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate." -MONDO:0005404 "A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities." "SCTID:51771007 UMLS:C0015674 ICD9:780.71 ICD9:780.79 MESH:D015673 ICD10:G93.3 DOID:8544 NCIT:C3037 EFO:0004540 ICD10:R53.82 Orphanet:1983" +MONDO:0005404 "A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities." "SCTID:51771007 UMLS:C0015674 ICD9:780.71 ICD9:780.79 MESH:D015673 DOID:8544 NCIT:C3037 EFO:0004540 Orphanet:1983" MONDO:0007747 "OMIM:143860 ICD9:276.9 Orphanet:542657 SCTID:709413001 DOID:0111371" MONDO:0033046 "OMIM:617564 DOID:0080255 UMLS:C4479655" MONDO:0014705 "Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene." "UMLS:C4225269 OMIM:616602" @@ -9909,9 +9904,9 @@ CL:0002432 "A CD4-positive, CD8-negative thymocyte that is CD24-positive and exp UBERON:0010499 MONDO:0004512 "A meningeal melanoma with secondary diffuse meningeal spread. (WHO)" "DOID:8243 ICDO:8728/3 UMLS:C1266114 NCIT:C6891" MONDO:0013558 "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene." "UMLS:C3888007 DOID:0060544 Orphanet:79430 NCIT:C150369 Orphanet:231512 OMIM:614075" -MONDO:0015445 "Autosomal dominant form of aorta coarctation." "Orphanet:1455 ICD10:Q25.1" +MONDO:0015445 "Autosomal dominant form of aorta coarctation." "Orphanet:1455 ICD10CM:Q25.1" MONDO:0002967 "Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area." "DOID:4337 ICD9:110.0 UMLS:C1274426 NCIT:C34536 UMLS:C0011640 SCTID:266148000" -MONDO:0007142 "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." "Orphanet:857 NCIT:C99085 UMLS:CN034849 ICD10:Q87.8 GARD:0007784 ICD9:759.89 DOID:0050887 SCTID:24750000 MESH:C536974 OMIMPS:107480 UMLS:C0265246" +MONDO:0007142 "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." "Orphanet:857 NCIT:C99085 UMLS:CN034849 OMIM:617466 GARD:0007784 ICD9:759.89 OMIM:107480 DOID:0050887 SCTID:24750000 MESH:C536974 OMIMPS:107480 ICD10CM:Q87.8 UMLS:C0265246" UBERON:0010233 http://identifiers.org/hgnc/8549 MONDO:0024636 "An inflammatory disease involving a pathogenic inflammatory response in the heart layer." "SCTID:399617002 ICD9:429.89" @@ -9927,19 +9922,19 @@ GO:0060429 "The process whose specific outcome is the progression of an epitheli MONDO:0014749 "Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene." "OMIM:616724 UMLS:C4225231" GO:0002687 "Any process that activates or increases the frequency, rate, or extent of leukocyte migration." MONDO:0007748 "MESH:C562790 ICD9:V18.19 Orphanet:2197 SCTID:237886009 OMIM:143870" -MONDO:0003019 "Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia." "NCIT:C34939 HP:0002900 DOID:4500 NCIT:C37974 SCTID:43339004 MESH:D007008 UMLS:C1514284 ICD9:276.8 ICD10:E87.6" +MONDO:0003019 "Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia." "NCIT:C34939 ICD10CM:E87.6 HP:0002900 DOID:4500 NCIT:C37974 SCTID:43339004 MESH:D007008 UMLS:C1514284 ICD9:276.8" MONDO:0033045 "OMIM:617563 UMLS:CN317535 DOID:0080254" MONDO:0000410 "An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid." "DOID:0050698 SCTID:396343006 NCIT:C97077 ICD9:658.80 UMLS:C1275592" CL:0002120 "An CD24-positive CD38-negative IgG-negative memory B cell is a CD38-negative IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD24-positive, CD38-negative, and IgG-negative." -MONDO:0019740 "Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." "UMLS:C2584778 ICD10:M31.3 UMLS:C2584777 Orphanet:93585 GARD:0004607 MESH:C536901 NCIT:C131653 SCTID:438476003" -MONDO:0016364 "Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy." "OMIM:608629 UMLS:CN201217 OMIM:614464 OMIM:617121 GARD:0010168 ICD10:Q04.3 ICD10:H35.5 OMIM:614424 UMLS:C1837713 Orphanet:220493 SCTID:716998009 OMIM:614970 UMLS:C4274118" +MONDO:0019740 "Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." "ICD10CM:M31.3 UMLS:C2584778 UMLS:C2584777 Orphanet:93585 GARD:0004607 MESH:C536901 NCIT:C131653 SCTID:438476003" +MONDO:0016364 "Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy." "OMIM:608629 UMLS:CN201217 OMIM:614464 OMIM:617121 GARD:0010168 OMIM:614424 UMLS:C1837713 Orphanet:220493 SCTID:716998009 ICD10CM:H35.5 OMIM:614970 ICD10CM:Q04.3 UMLS:C4274118" CHR:9606-chr17p13 MONDO:0006287 "A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." "NCIT:C4304 DOID:4719 ICDO:9250/3 EFO:1000347 UMLS:C0334552" -MONDO:0010193 "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry." "OMIM:277590 ICD10:Q87.3 GARD:0007878 UMLS:CN036342 ICD9:759.89 DOID:14731 Orphanet:3447 SCTID:63119004 MESH:C536687 NCIT:C125599 UMLS:C0265210 GTR:AN0102080 GTR:AN0102079" -MONDO:0008224 "Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." "ICD10:G72.3 DOID:14451 UMLS:CN074266 MESH:D020513 UMLS:C0238357 OMIM:170500 NCIT:C123429 SCTID:304737009 GARD:0000195 Orphanet:682" +MONDO:0010193 "Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry." "OMIM:277590 ICD10CM:Q87.3 GARD:0007878 UMLS:CN036342 ICD9:759.89 DOID:14731 Orphanet:3447 SCTID:63119004 MESH:C536687 NCIT:C125599 UMLS:C0265210 GTR:AN0102080 GTR:AN0102079" +MONDO:0008224 "Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." "ICD10CM:G72.3 DOID:14451 UMLS:CN074266 MESH:D020513 UMLS:C0238357 OMIM:170500 NCIT:C123429 SCTID:304737009 GARD:0000195 Orphanet:682" HP:0004372 "SNOMEDCT_US:3006004 UMLS:C0234428" CARO:0010000 -MONDO:0015678 "Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis." "UMLS:C4274970 Orphanet:168621 ICD10:Q78.8 SCTID:715861004" +MONDO:0015678 "Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis." "ICD10CM:Q78.8 UMLS:C4274970 Orphanet:168621 SCTID:715861004" GO:0003091 "Renal process involved in the maintenance of an internal steady state of water in the body." http://identifiers.org/hgnc/16133 NCIT:C165233 @@ -9954,29 +9949,29 @@ UBERON:0010235 http://identifiers.org/hgnc/8547 GO:0010888 "Any process that decreases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development." GO:0044070 "Any process that modulates the frequency, rate or extent of the directed movement of anions, atoms or small molecules with a net negative charge into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." -MONDO:0010030 "An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain" "GARD:0010252 NCIT:C26883 ICD9:710.2 MESH:D012859 OMIM:270150 ICD10:M35.0 ICD10:M35.00 Orphanet:378 EFO:0000699 Orphanet:289390 SCTID:83901003 DOID:12894" +MONDO:0010030 "An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain" "GARD:0010252 NCIT:C26883 ICD9:710.2 MESH:D012859 OMIM:270150 Orphanet:378 EFO:0000699 Orphanet:289390 SCTID:83901003 DOID:12894" NCBITaxon:2560194 "GC_ID:1" http://identifiers.org/hgnc/21071 MONDO:0015185 "UMLS:C0345891 SCTID:254589009 MESH:D044483 NCIT:C155954 UMLS:CN197525 Orphanet:104010 MedDRA:10057018" MONDO:0006989 "Localized collection of pus in the tissues that enclose the root of a tooth." "NCIT:C34913 DOID:2562 EFO:1001202 MESH:D010482 UMLS:C0031024" -MONDO:0017581 "UMLS:CN203384 OMIM:300942 Orphanet:300373 ICD10:E22.0" +MONDO:0017581 "UMLS:CN203384 OMIM:300942 Orphanet:300373 ICD10CM:E22.0" MONDO:0019515 "OBSOLETE. Rare dementia." "UMLS:CN227644 Orphanet:89043" -MONDO:0015164 "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain)." "Orphanet:102379 ICD10:C92.8 UMLS:CN197504" +MONDO:0015164 "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain)." "Orphanet:102379 UMLS:CN197504" NCBITaxon:447134 "GC_ID:1" GO:0051186 "OBSOLETE. The chemical reactions and pathways involving a cofactor, a substance that is required for the activity of an enzyme or other protein. Cofactors may be inorganic, such as the metal atoms zinc, iron, and copper in certain forms, or organic, in which case they are referred to as coenzymes. Cofactors may either be bound tightly to active sites or bind loosely with the substrate." -MONDO:0009001 "Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive." "MESH:C565686 OMIM:216800 UMLS:C1857619 Orphanet:91494 ICD10:Q87.8 SCTID:722463001" +MONDO:0009001 "Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive." "MESH:C565686 OMIM:216800 UMLS:C1857619 ICD10CM:Q87.8 Orphanet:91494 SCTID:722463001" MONDO:0060631 "UMLS:CN737163 DOID:0111555 OMIM:617822" MONDO:0033047 "DOID:0080256 Orphanet:2855 UMLS:C4479656 OMIM:617565" SO:0000011 "A gene which can be transcribed, but will not be translated into a protein." -MONDO:0015681 "Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia." "Orphanet:168782 NCIT:C97164 UMLS:CN072151 SCTID:71961003 MedDRA:10008522 GARD:0006040 UMLS:C0236791 ICD10:F84.3" +MONDO:0015681 "Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia." "Orphanet:168782 NCIT:C97164 UMLS:CN072151 SCTID:71961003 MedDRA:10008522 GARD:0006040 UMLS:C0236791" MONDO:0011235 "GARD:0004269 UMLS:C1865294 OMIM:602484 Orphanet:2840" MONDO:0013514 "Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene." "UMLS:C3151432 Orphanet:90368 DOID:0110700 OMIM:613981" MONDO:0016382 "Orphanet:222628" http://identifiers.org/hgnc/8548 HP:0007375 "An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain." "UMLS:C4024894" NCBITaxon:2560195 "GC_ID:1" -MONDO:0008772 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene." "DOID:0110057 MESH:C538242 OMIM:204700 GARD:0009495 MESH:C567146 Orphanet:100033 ICD10:K00.5" -MONDO:0008667 "Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." "NCIT:C3105 OMIM:193300 UMLS:C0019562 DOID:14175 ICD9:759.6 MESH:D006623 MedDRA:10047716 SCTID:46659004 Orphanet:892 GARD:0007855 ICD10:Q85.8" +MONDO:0008772 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene." "DOID:0110057 MESH:C538242 OMIM:204700 GARD:0009495 MESH:C567146 Orphanet:100033" +MONDO:0008667 "Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." "NCIT:C3105 OMIM:193300 UMLS:C0019562 DOID:14175 ICD9:759.6 MESH:D006623 MedDRA:10047716 SCTID:46659004 Orphanet:892 GARD:0007855 ICD10CM:Q85.8" MONDO:0009048 "OMIM:219070" MONDO:0010037 "OMIM:270425" NCBITaxon:12080 "GC_ID:1" @@ -9984,7 +9979,7 @@ MONDO:0008949 "UMLS:C1859259 OMIM:213820 MESH:C537370 GARD:0003812" MONDO:0015184 "UMLS:CN226620 Orphanet:104009" MONDO:0015026 "Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene." "OMIM:617341 UMLS:CN240513" NCBITaxon:2267273 "GC_ID:1" -MONDO:0011156 "Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." "MESH:C535934 Orphanet:172 OMIM:615878 ICD10:K76.8 Orphanet:79304 OMIM:601847 DOID:0070222 UMLS:CN205889 GARD:0001288" +MONDO:0011156 "Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." "MESH:C535934 Orphanet:172 OMIM:615878 Orphanet:79304 ICD10CM:K76.8 OMIM:601847 DOID:0070222 UMLS:CN205889 GARD:0001288" http://identifiers.org/hgnc/28369 GO:0061045 "Any process that decreases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury." CHEBI:33780 @@ -9996,20 +9991,20 @@ MONDO:0021102 "An unusual, biphasic benign or malignant neoplasm that arises fro GO:0032502 "A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition." MONDO:0003960 "A large cell neuroendocrine carcinoma that involves the lung(s)." "UMLS:C1265996 NCIT:C5672 UMLS:C1334363 NCIT:C6875 DOID:6658" CHEBI:46195 "A member of the class of phenols that is 4-aminophenol in which one of the hydrogens attached to the amino group has been replaced by an acetyl group." -MONDO:0007648 "An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations." "GARD:0010900 ICD10:C16.9 GARD:0010334 UMLS:C1708349 NCIT:C43295 OMIM:137215 SCTID:716859000 Orphanet:26106 DOID:0080763" +MONDO:0007648 "An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations." "GARD:0010900 GARD:0010334 UMLS:C1708349 NCIT:C43295 OMIM:137215 SCTID:716859000 Orphanet:26106 DOID:0080763" MONDO:0010290 "UMLS:C1846033 MESH:C564546 OMIM:300273" MONDO:0019723 "UMLS:CN206630 Orphanet:93550" MONDO:0002894 "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." "NCIT:C5156 UMLS:C1859101 DOID:4153 EFO:1000543" -MONDO:0017328 "UMLS:CN202968 ICD10:C22.7 Orphanet:289362" +MONDO:0017328 "UMLS:CN202968 ICD10CM:C22.7 Orphanet:289362" http://identifiers.org/hgnc/10298 MONDO:0044878 "A germ cell tumor that occurs during adulthood." "NCIT:C114777" -MONDO:0009552 "Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema." "GARD:0000092 SCTID:239069005 Orphanet:87503 UMLS:C0025221 ICD10:Q82.8 OMIM:248300 DOID:0060862 ICD9:757.39" +MONDO:0009552 "Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema." "GARD:0000092 SCTID:239069005 Orphanet:87503 UMLS:C0025221 ICD10CM:Q82.8 OMIM:248300 DOID:0060862 ICD9:757.39" MONDO:0023208 "GARD:0002415" MONDO:0001025 "Chronic form of gonococcal seminal vesiculitis." "DOID:10399 SCTID:23975003 ICD9:098.34 UMLS:C0153205" http://identifiers.org/hgnc/4851 MONDO:0032943 "OMIM:618829" http://identifiers.org/hgnc/11495 -MONDO:0018527 "ICD10:C25.7 ICD10:C25.0 Orphanet:424080 ICD10:C25.2 UMLS:CN237530 ICD10:C25.8 ICD10:C25.1" +MONDO:0018527 "Orphanet:424080 UMLS:CN237530" GO:0006164 "The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar." MONDO:0000454 GO:0071707 "The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS)." @@ -10017,10 +10012,10 @@ MONDO:0005316 "Infection caused by bacterial overgrowth in the vagina. Most affe MONDO:0032942 "OMIM:618828" GO:0048514 "The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood." MONDO:0700028 "Chromosomal disorder in which chromosome Y is affected." -MONDO:0016889 "Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "Orphanet:261911 ICD10:Q93.5 GARD:0001346" +MONDO:0016889 "Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "Orphanet:261911 ICD10CM:Q93.5 GARD:0001346" MONDO:0005098 "A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event." "OMIM:601367 NIFSTD:birnlex_12783 MESH:D020521 SCTID:230690007 NCIT:C3390 EFO:0000712 HP:0001297" -MONDO:0016515 "Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome." "ICD10:Q24.8 Orphanet:2326 UMLS:CN201538" -MONDO:0015613 "Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II." "ICD10:K00.5 ICD9:520.5 OMIM:125420 SCTID:109492001 DOID:701 OMIM:125400 MESH:D003805 Orphanet:1653" +MONDO:0016515 "Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome." "Orphanet:2326 UMLS:CN201538 ICD10CM:Q24.8" +MONDO:0015613 "Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II." "Orphanet:1653 ICD10CM:K00.5 ICD9:520.5 OMIM:125420 SCTID:109492001 DOID:701 OMIM:125400 MESH:D003805" http://identifiers.org/hgnc/10031 NCIT:C12736 http://identifiers.org/hgnc/10297 @@ -10028,43 +10023,43 @@ MONDO:0000377 "A Leydig cell tumor characterized by large tumor size, the presen HP:0001962 "A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia." "SNOMEDCT_US:80313002 UMLS:C0030252" http://identifiers.org/hgnc/2457 http://identifiers.org/hgnc/25608 -MONDO:0008787 "Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients." "OMIM:206100 GARD:0012360 SCTID:711161006 Orphanet:83642 ICD10:D50.8" -MONDO:0008975 "An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies." "ICD9:759.89 OMIMPS:184840 SCTID:254060000 DOID:0080026 GARD:0004130 OMIM:215150 ICD10:Q77.7 Orphanet:1427" +MONDO:0008787 "Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients." "ICD10CM:D50.8 OMIM:206100 GARD:0012360 SCTID:711161006 Orphanet:83642" +MONDO:0008975 "An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies." "ICD9:759.89 OMIMPS:184840 SCTID:254060000 DOID:0080026 GARD:0004130 OMIM:215150 ICD10CM:Q77.7 Orphanet:1427" MONDO:0018524 MONDO:0021909 -MONDO:0018307 "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." "ICD10:G23.0 GARD:0011899 Orphanet:385 OMIMPS:234200 DOID:0110734 MESH:C538421" +MONDO:0018307 "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." "GARD:0011899 Orphanet:385 ICD10CM:G23.0 OMIMPS:234200 DOID:0110734 MESH:C538421" MONDO:0033044 "DOID:0080276 OMIM:617562 Orphanet:564 DOID:0080253" GO:0014060 "Any process that modulates the frequency, rate or extent of the regulated release of epinephrine." -MONDO:0011551 "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy." "UMLS:C2673535 SCTID:715827001 ICD10:G24.1 GARD:0001902 OMIM:605407 Orphanet:101150" +MONDO:0011551 "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy." "UMLS:C2673535 ICD10CM:G24.1 SCTID:715827001 GARD:0001902 OMIM:605407 Orphanet:101150" http://identifiers.org/hgnc/11494 MONDO:0002377 "A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells." "DOID:2656 UMLS:C0334496 ICDO:9011/0 NCIT:C4271" -MONDO:0020352 "Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)." "ICD10:G23.2 Orphanet:98933 UMLS:CN207200" +MONDO:0020352 "Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)." "Orphanet:98933 UMLS:CN207200 ICD10CM:G23.2" MONDO:0010292 "UMLS:C1846010 OMIM:300280 MESH:C564544" -MONDO:0016392 "Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." "ICD10:Q04.3 Orphanet:2246 GARD:0001196 DOID:0070339 OMIM:213000" -MONDO:0017362 "Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form." "MedDRA:10063020 Orphanet:2901 ICD10:G54.5 OMIM:162100" -MONDO:0011908 "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" "OMIM:607785 ICD10:C93.30 ICD10:C93.3 SCTID:445227008 NCIT:C9233 UMLS:C0349639 MedDRA:10023249 MESH:D054429 ICDO:9946/3 Orphanet:86834 UMLS:C0023480 EFO:1000309 DOID:0050458 GARD:0009884 ONCOTREE:JMML" +MONDO:0016392 "Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." "Orphanet:2246 ICD10CM:Q04.3 GARD:0001196 DOID:0070339 OMIM:213000" +MONDO:0017362 "Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form." "MedDRA:10063020 Orphanet:2901 OMIM:162100 ICD10CM:G54.5" +MONDO:0011908 "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" "OMIM:607785 SCTID:445227008 NCIT:C9233 UMLS:C0349639 MedDRA:10023249 MESH:D054429 ICDO:9946/3 Orphanet:86834 UMLS:C0023480 EFO:1000309 DOID:0050458 GARD:0009884 ONCOTREE:JMML" GO:0043242 "Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components." MONDO:0023204 "UMLS:CN776933 Orphanet:2060 GARD:0006475 OMIM:253800 GARD:0002411 Orphanet:272" MONDO:0001789 "A neurofibroma that arises from the spinal cord." "DOID:13742 UMLS:C1336047 NCIT:C5145" HP:0008609 "An abnormality of the morphology or structure of the middle ear." "UMLS:C1857456" -MONDO:0019725 "ICD10:M32.9 ICD10:M32.8 ICD10:M32.1 ICD10:M32.0 Orphanet:93552" +MONDO:0019725 "ICD10CM:M32.9 ICD10CM:M32.8 ICD10CM:M32.1 ICD10CM:M32.0 Orphanet:93552" UBERON:0035649 NCIT:C15497 UBERON:0029503 GO:0042101 "A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains." http://identifiers.org/hgnc/13890 MONDO:0013729 "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene." "OMIM:614391" -MONDO:0016128 "SCTID:60970005 ICD9:728.2 UMLS:C0263997 ICD10:M60.0 Orphanet:206997" +MONDO:0016128 "SCTID:60970005 ICD9:728.2 ICD10CM:M60.0 UMLS:C0263997 Orphanet:206997" MONDO:0033043 "Orphanet:527497 UMLS:C4479653 DOID:0080252 OMIM:617560" http://identifiers.org/hgnc/29300 HP:0011030 "An abnormality of the homeostasis (concentration) of transition element cation." "UMLS:C4023584" MONDO:0009330 "An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone." "OMIM:234820 GARD:0002627 MESH:C562740 NCIT:C4301 ICDO:9150/3 Orphanet:2126 UMLS:C0334542" -MONDO:0010191 "Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII)." "DOID:0111054 OMIM:277480 Orphanet:166096 UMLS:C1264041 Orphanet:903 ICD10:D68.0 MESH:D056729 NCIT:C85213 SCTID:128108002" +MONDO:0010191 "Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII)." "DOID:0111054 OMIM:277480 Orphanet:166096 UMLS:C1264041 Orphanet:903 ICD10CM:D68.0 MESH:D056729 NCIT:C85213 SCTID:128108002" CHEBI:22744 MONDO:0021244 "A neoplasm (disease) that involves the submandibular gland." "UMLS:C0038558 EFO:1001853 SCTID:254464000 NCIT:C3393 MESH:D013365" CL:0000147 "A pigment cell is a cell that contains pigment granules." "VHOG:0001678" HP:0000951 "An abnormality of the skin." "SNOMEDCT_US:95320005 UMLS:C0037268 UMLS:C0037274 SNOMEDCT_US:199879009 MSH:D012871 MSH:D012868" -MONDO:0010291 +MONDO:0010291 "OMIM:300274" GO:0045917 "Any process that activates or increases the frequency, rate or extent of complement activation." http://identifiers.org/hgnc/10295 UBERON:0035648 @@ -10074,22 +10069,22 @@ NCIT:C15496 GO:0001654 "The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight." MONDO:0011492 "MESH:C565744 UMLS:C1858101 OMIM:604830" MONDO:0004990 "Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells." "EFO:0000306 NCIT:C53555 DOID:0060548 NCIT:C53554" -MONDO:0017881 "Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations." "Orphanet:319254 DOID:11320 ICD10:A98.2 GARD:0008257 SCTID:23097003 ICD9:065.2 MESH:D007733 UMLS:C0022810 MedDRA:10023505" +MONDO:0017881 "Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations." "Orphanet:319254 ICD10CM:A98.2 DOID:11320 GARD:0008257 SCTID:23097003 ICD9:065.2 MESH:D007733 UMLS:C0022810 MedDRA:10023505" MONDO:0006053 "A leiomyoma that involves the kidney." "EFO:1000050" MONDO:0018522 MONDO:0018788 "Orphanet:477759 UMLS:CN776854" -MONDO:0016127 "SCTID:30330001 Orphanet:206994 ICD10:M60.0" +MONDO:0016127 "SCTID:30330001 ICD10CM:M60.0 Orphanet:206994" GO:0031346 "Any process that activates or increases the frequency, rate or extent of the process involved in the formation, arrangement of constituent parts, or disassembly of cell projections." NCBITaxon:1930602 "GC_ID:1" -MONDO:0014555 "Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin." "OMIM:616265 Orphanet:263548 UMLS:C4015729 ICD10:Q80.8 Orphanet:263543" +MONDO:0014555 "Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin." "OMIM:616265 Orphanet:263548 ICD10CM:Q80.8 UMLS:C4015729 Orphanet:263543" MONDO:0000892 "A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis." "UMLS:C1880119 ONCOTREE:CMC NCIT:C60641 DOID:0080183" MONDO:0045008 "A disease that has its basis in the disruption of cholesterol metabolic process." "SCTID:123963007 UMLS:C0342877" -MONDO:0019985 "ICD10:Q63.8 Orphanet:97368" +MONDO:0019985 "ICD10CM:Q63.8 Orphanet:97368" GO:0004860 "Binds to and stops, prevents or reduces the activity of a protein kinase, an enzyme which phosphorylates a protein." MONDO:0100147 "A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies." -MONDO:0004994 "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive." "ICD9:425.9 Orphanet:167848 EFO:0000318 NCIT:C53654 ICD10:I51.5 MedDRA:10007636 UMLS:C0878544 ICD9:425 SCTID:85898001 ICD10:I42 ICD10:I42.9 ICD9:425.4 DOID:0050700 GARD:0011958 NCIT:C34830 MESH:D009202" +MONDO:0004994 "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive." "ICD9:425.9 Orphanet:167848 EFO:0000318 NCIT:C53654 MedDRA:10007636 UMLS:C0878544 ICD9:425 SCTID:85898001 ICD9:425.4 ICD10CM:I42 DOID:0050700 GARD:0011958 NCIT:C34830 MESH:D009202" CL:1000312 "A goblet cell that is part of the epithelium of bronchus." "FMA:263032" -MONDO:0007448 "Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment mayinvovle use of antihistamines if symptoms do not go away on their own." "NCIT:C111885 MESH:C536612 DOID:743 OMIM:125635 EFO:1000685 ICD9:708.3 GARD:0009480 ICD10:L50.3 SCTID:402601007 SCTID:7632005" +MONDO:0007448 "Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment mayinvovle use of antihistamines if symptoms do not go away on their own." "NCIT:C111885 ICD10CM:L50.3 MESH:C536612 DOID:743 OMIM:125635 EFO:1000685 ICD9:708.3 GARD:0009480 SCTID:402601007 SCTID:7632005" MONDO:0011739 "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene." "Orphanet:1333 OMIM:606856" CL:0009044 "A lymphocyte that resides in the lamina propria of the small intestine. Lamina propria leukocytes and intraepithelial lymphocytes are the effector compartments of the gut mucosal immune system. Lymphocytes circulate through gut associated lymphoid tissues until recruitment by intestinal antigens. They are involved in the gut immune response." GO:0060050 "Any process that activates or increases the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins." @@ -10097,19 +10092,19 @@ GO:0015238 http://identifiers.org/hgnc/4855 MONDO:0011491 "OMIM:604827 Orphanet:307 DOID:0111321" MONDO:0018789 "UMLS:CN776856 Orphanet:477762" -MONDO:0016126 "Orphanet:206991 ICD10:M60.0 UMLS:C0150005 SCTID:240105009 ICD9:729.1 MedDRA:10051512" +MONDO:0016126 "ICD10CM:M60.0 Orphanet:206991 UMLS:C0150005 SCTID:240105009 ICD9:729.1 MedDRA:10051512" http://identifiers.org/hgnc/11233 MONDO:0002871 "A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas." "DOID:4084 NCIT:C39934 UMLS:C1515301" HP:0000944 "An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood." "UMLS:C4025814" UBERON:0006757 UBERON:0004356 MONDO:0012011 "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." "OMIM:608320 UMLS:C1842247 MESH:C564258" -MONDO:0008383 "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor." "MESH:D001172 OMIM:604302 EFO:0000685 NCIT:C2884 OMIM:180300 SCTID:69896004 ICD10:M06.9 DOID:7148 Orphanet:284130 ICD9:714.0 UMLS:C0003873 KEGG:05323" +MONDO:0008383 "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor." "MESH:D001172 OMIM:604302 EFO:0000685 NCIT:C2884 OMIM:180300 SCTID:69896004 DOID:7148 Orphanet:284130 ICD9:714.0 UMLS:C0003873 KEGG:05323" http://identifiers.org/hgnc/12698 -MONDO:0005306 "An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine." "MESH:D013167 DOID:7147 ICD9:720.0 NCIT:C84564 EFO:0003898 SCTID:9631008 Orphanet:825 ICD10:M45" -MONDO:0010293 "ICD10:D82.8 UMLS:C1846006 OMIMPS:300291 OMIM:300291 GARD:0009936 MESH:C536181 Orphanet:98813 NCIT:C118844 SCTID:703525006 OMIM:612132 Orphanet:238468" -MONDO:0005625 "A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures." "ICD9:084.9 UMLS:C0024534 DOID:14069 ICD10:B50.0 Wikipedia:Malaria MESH:D016779 NCIT:C128373 SCTID:53622003 EFO:0006857" -MONDO:0005946 "Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi." "UMLS:C0035469 SCTID:18140003 MESH:D012227 ICD10:B48.1 ICD9:117.0 DOID:2409 EFO:0007471" +MONDO:0005306 "An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine." "ICD10CM:M45 MESH:D013167 DOID:7147 ICD9:720.0 NCIT:C84564 EFO:0003898 SCTID:9631008 Orphanet:825" +MONDO:0010293 "UMLS:C1846006 OMIMPS:300291 OMIM:300291 GARD:0009936 MESH:C536181 Orphanet:98813 NCIT:C118844 ICD10CM:D82.8 SCTID:703525006 OMIM:612132 Orphanet:238468" +MONDO:0005625 "A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures." "ICD9:084.9 UMLS:C0024534 DOID:14069 Wikipedia:Malaria MESH:D016779 NCIT:C128373 SCTID:53622003 EFO:0006857" +MONDO:0005946 "Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi." "UMLS:C0035469 SCTID:18140003 MESH:D012227 ICD9:117.0 DOID:2409 ICD10CM:B48.1 EFO:0007471" MONDO:0005636 "A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites." "UMLS:C0001442 NCIT:C9474 DOID:1974 EFO:0007134 ICDO:8933/3 MESH:D018195" GO:0110111 "Any process that stops, prevents, or reduces the frequency, rate or extent of animal organ morphogenesis." GO:0033342 "Any process that stops, prevents, or reduces the frequency, rate or extent of collagen binding." @@ -10120,9 +10115,9 @@ MONDO:0002119 "A well circumscribed lesion of the bone, most frequently arising MONDO:0000516 "A chondroma that involves the phalanx." "DOID:0050898" MONDO:0018786 "Orphanet:477749" MONDO:0023209 "MESH:C535402 GARD:0008400" -MONDO:0012127 "Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset." "GARD:0012534 UMLS:C1837342 Orphanet:140922 DOID:0110283 ICD10:G71.0 MESH:C563854 OMIM:608807" +MONDO:0012127 "Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset." "GARD:0012534 UMLS:C1837342 Orphanet:140922 ICD10CM:G71.0 DOID:0110283 MESH:C563854 OMIM:608807" MONDO:0016437 "Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits." "Orphanet:228227" -MONDO:0016125 "ICD10:M60.0 Orphanet:206988" +MONDO:0016125 "Orphanet:206988" MONDO:0006997 "Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" "UMLS:C0751932 MESH:D020429 EFO:1001213 SCTID:399076001 DOID:1187" http://identifiers.org/hgnc/29569 MONDO:0014538 "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene." "Orphanet:45358 OMIM:616219 UMLS:C4015552" @@ -10140,7 +10135,7 @@ CHEBI:3992 GO:0002792 "Any process that stops, prevents, or reduces the frequency, rate, or extent of peptide secretion." MONDO:0037939 "Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS." "SCTID:418470004" GO:0060123 "Any process that modulates the frequency, rate or extent of the regulated release of growth hormone from a cell." -MONDO:0016858 "Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." "UMLS:CN202201 OMIM:110100 Orphanet:261572 ICD10:Q10.3" +MONDO:0016858 "Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure." "UMLS:CN202201 ICD10CM:Q10.3 OMIM:110100 Orphanet:261572" ECTO:0000481 "An exposure to transition element molecular entity." MONDO:0018787 "Orphanet:477754 UMLS:CN776941" MONDO:0100417 "Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)" "NCIT:C146726" @@ -10153,25 +10148,25 @@ MONDO:0006089 "An invasive mixed adenoneuroendocrine carcinoma of the appendix c GO:0050878 "Any process that modulates the levels of body fluids." MONDO:0012692 "OMIM:611555 UMLS:C1969055 MESH:C566918" NCIT:C15492 -MONDO:0007382 "Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability." "UMLS:C2930866 ICD10:Q87.8 GARD:0004636 MESH:C535286 OMIM:122430 Orphanet:1051" +MONDO:0007382 "Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability." "UMLS:C2930866 GARD:0004636 MESH:C535286 OMIM:122430 Orphanet:1051 ICD10CM:Q87.8" MONDO:0024337 "A neoplasm involving a urothelium." "NCIT:C39852 UMLS:C1519840" MONDO:0030543 "OMIM:619737" -MONDO:0019986 "Orphanet:97555 ICD10:N04.8 UMLS:CN206920" -MONDO:0018304 "A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response." "Orphanet:37748 MedDRA:10062908 GARD:0012390 MESH:D019873 EFO:1001165 ICD10:L50.8 UMLS:C0524988 SCTID:402415001 ICD9:708.8 DOID:4371" +MONDO:0019986 "ICD10CM:N04.8 Orphanet:97555 UMLS:CN206920" +MONDO:0018304 "A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response." "Orphanet:37748 MedDRA:10062908 GARD:0012390 MESH:D019873 EFO:1001165 ICD10CM:L50.8 UMLS:C0524988 SCTID:402415001 ICD9:708.8 DOID:4371" MONDO:0032940 "OMIM:618826" -MONDO:0010920 "Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal." "MESH:C537772 MESH:D065817 ICD9:744.23 ICD10:Q17.2 Orphanet:83463 SCTID:35045004 OMIM:128800 OMIM:600674 GARD:0000431 MedDRA:10027555 Orphanet:93976" +MONDO:0010920 "Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal." "MESH:C537772 MESH:D065817 ICD9:744.23 Orphanet:83463 SCTID:35045004 OMIM:128800 OMIM:600674 ICD10CM:Q17.2 GARD:0000431 MedDRA:10027555 Orphanet:93976" GO:0004176 "Catalysis of the hydrolysis of peptide bonds, driven by ATP hydrolysis." MONDO:0100095 "Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene." "OMIM:618170 DOID:0070352" -MONDO:0015196 "Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization." "ICD10:Q28.2 SCTID:253194008 MESH:C536535 UMLS:C0431420 GARD:0005467 Orphanet:1053" +MONDO:0015196 "Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization." "SCTID:253194008 MESH:C536535 UMLS:C0431420 GARD:0005467 Orphanet:1053 ICD10CM:Q28.2" MONDO:0024650 "ICD9:733.09 SCTID:14651005" http://identifiers.org/hgnc/6142 MONDO:0003302 "A rare neurofibroma with epithelioid morphology." "SCTID:404032008 UMLS:C1275264 NCIT:C6558 ICD9:215.9 DOID:5149" -MONDO:0018451 "X-linked form of distal hereditary motor neuropathy." "Orphanet:404538 ICD10:G12.2" -MONDO:0012923 "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene." "OMIM:612526 GARD:0013389 UMLS:C2675861 Orphanet:528 MESH:C567282 ICD10:E88.1 DOID:0111137" -MONDO:0004585 "An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm." "ICD9:657 DOID:8488 ICD10:O40 ICD9:657.0 SCTID:86203003 ICD9:657.00 NCIT:C92848 MESH:D006831 HP:0001561" +MONDO:0018451 "X-linked form of distal hereditary motor neuropathy." "ICD10CM:G12.2 Orphanet:404538" +MONDO:0012923 "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene." "OMIM:612526 GARD:0013389 UMLS:C2675861 Orphanet:528 MESH:C567282 DOID:0111137" +MONDO:0004585 "An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm." "ICD9:657 DOID:8488 ICD9:657.0 SCTID:86203003 ICD10CM:O30-O48 ICD9:657.00 NCIT:C92848 MESH:D006831 HP:0001561" GO:0098798 "A protein complex that is part of a mitochondrion." -MONDO:0012766 "Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients." "Orphanet:171612 UMLS:C2936880 DOID:0110788 SCTID:763369007 MESH:C567931 ICD10:G11.4 OMIM:611945" -MONDO:0004700 "A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma." "MESH:D010307 UMLS:C0747273 SCTID:363379000 ICD9:142.0 ICD10:C07 NCIT:C3525 DOID:9036" +MONDO:0012766 "Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients." "Orphanet:171612 UMLS:C2936880 DOID:0110788 SCTID:763369007 ICD10CM:G11.4 MESH:C567931 OMIM:611945" +MONDO:0004700 "A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma." "MESH:D010307 UMLS:C0747273 SCTID:363379000 ICD9:142.0 NCIT:C3525 DOID:9036" GO:0022409 "Any process that activates or increases the rate or extent of cell adhesion to another cell." MONDO:0019707 "Orphanet:93449" MONDO:0044092 "A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal." "SCTID:61738006 UMLS:C0341299 NCIT:C45426 MESH:D064068" @@ -10179,18 +10174,18 @@ MONDO:0003144 "A rare, usually aggressive malignant embryonal neoplasm of the ce GO:0098632 "The binding by a cell-adhesion protein on the cell surface to an extracellular matrix component, to mediate adhesion of the cell to another cell." MONDO:0007760 "MESH:C564170 UMLS:C1840425 OMIM:144300" MONDO:0024651 "ICD9:733.09 UMLS:C1272167 SCTID:390833005" -MONDO:0015259 "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse)." "ICD10:Q87.8 Orphanet:1277 GARD:0005036 UMLS:CN199165" +MONDO:0015259 "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse)." "ICD10CM:Q87.8 Orphanet:1277 GARD:0005036 UMLS:CN199165" PATO:0001031 "A physical quality inhering in a bearer by virtue of the bearer's disposition to recover its size and shape after deformation in any way." -MONDO:0002290 "A malignant neoplasm that affects the clitoris." "DOID:2401 UMLS:C0153589 NCIT:C9362 NCIT:C3557 ICD9:184.3 SCTID:371979001 UMLS:C1333070 ICD10:C51.2" +MONDO:0002290 "A malignant neoplasm that affects the clitoris." "DOID:2401 UMLS:C0153589 NCIT:C9362 NCIT:C3557 ICD9:184.3 SCTID:371979001 UMLS:C1333070" MONDO:0013252 "A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11." "Orphanet:280558 UMLS:C3150658 SCTID:702829000 OMIM:613398 ICD9:759.89 DOID:0060535" MONDO:0000209 "OMIM:616866 Orphanet:486811 OMIM:616867 OMIMPS:616866 UMLS:CN238807" CL:0000412 "A cell whose nucleus, or nuclei, each contain more than two haploid genomes." -MONDO:0019734 "An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." "ICD10:M33.2 Orphanet:93568 EFO:1001988 UMLS:C3826988 SCTID:738526005 NCIT:C114358 GARD:0012742" -MONDO:0016990 "An instance of prothrombin deficiency that is acquired during the lifetime of the individual." "ICD10:D68.4 Orphanet:26348 NCIT:C131622 GARD:0000475 UMLS:C0392610 MESH:C538174 SCTID:4152002" +MONDO:0019734 "An idiopathic inflammatory myopathy of childhood resulting in muscle weakness." "Orphanet:93568 ICD10CM:M33.2 EFO:1001988 UMLS:C3826988 SCTID:738526005 NCIT:C114358 GARD:0012742" +MONDO:0016990 "An instance of prothrombin deficiency that is acquired during the lifetime of the individual." "Orphanet:26348 ICD10CM:D68.4 NCIT:C131622 GARD:0000475 UMLS:C0392610 MESH:C538174 SCTID:4152002" MONDO:0006562 "MESH:D010859 EFO:1000716 SCTID:218358001" MONDO:0100165 "A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well." "OMIM:606176" -MONDO:0007283 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene." "DOID:0110237 UMLS:C4011454 ICD10:Q12.0 OMIM:115900 Orphanet:91492" -MONDO:0002412 "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues." "ICD10:E74.0 ICD10:E74.00 UMLS:C0017919 MESH:D006008 MedDRA:10061990 NCIT:C61272 ICD9:271.0 SCTID:29633007 Orphanet:79201 DOID:2747 DOID:0050728" +MONDO:0007283 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene." "DOID:0110237 UMLS:C4011454 OMIM:115900 Orphanet:91492" +MONDO:0002412 "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues." "UMLS:C0017919 MESH:D006008 ICD10CM:E74.0 MedDRA:10061990 NCIT:C61272 ICD9:271.0 SCTID:29633007 Orphanet:79201 DOID:2747 DOID:0050728" MONDO:0012855 "Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene." "DOID:0111003 MESH:C567358 OMIM:612291 UMLS:C2676771 Orphanet:475" MONDO:0003804 "DOID:620 UMLS:C0005830 MESH:D001796" MONDO:0024536 "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene." "Orphanet:361 DOID:0080621 OMIM:202200 UMLS:C1859974" @@ -10199,8 +10194,8 @@ MONDO:0000208 "UMLS:C4014997 OMIM:616033" MONDO:0003388 "A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei." "DOID:5308 NCIT:C27414 UMLS:C1332246" MONDO:0003636 "A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests." "UMLS:C1520094 NCIT:C40309 DOID:5761" http://identifiers.org/hgnc/714 -MONDO:0002908 "A metabolic disorder characterized by abnormal blood glucose levels." "MESH:D044882 NCIT:C53655 ICD9:271.8 DOID:4194 SCTID:126877002 UMLS:C1257958" -MONDO:0017409 "An infection with the Cytomegalovirus that is present from birth." "ICD10:P35.1 Orphanet:294 SCTID:276701009 GARD:0001409 UMLS:C0349499 GARD:0001480 NCIT:C122427" +MONDO:0002908 "A metabolic disorder characterized by abnormal blood glucose levels." "MESH:D044882 NCIT:C53655 ICD9:271.8 DOID:4194 SCTID:126877002 UMLS:C1257958 ICD10CM:E15-E16" +MONDO:0017409 "An infection with the Cytomegalovirus that is present from birth." "Orphanet:294 SCTID:276701009 GARD:0001409 UMLS:C0349499 GARD:0001480 NCIT:C122427" CHEBI:29195 MONDO:0019709 "Orphanet:93451" MONDO:0009937 "A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension." "NCIT:C85039 Orphanet:31837 MESH:D011668 OMIM:265450 GARD:0010153 DOID:5453 ICD9:416.8 UMLS:C0034091 SCTID:89420002 OMIMPS:265450 MedDRA:10037458" @@ -10208,15 +10203,15 @@ CHEBI:176838 "Any member of a group of vitamers that belong to the chemical stru MONDO:0007628 "Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene." "UMLS:C3805604 Orphanet:2253 GARD:0000406 OMIM:136520" MONDO:0021294 "A in situ carcinoma that involves the cardia of stomach." "SCTID:92560002 NCIT:C4428 UMLS:C0345795" MONDO:0000207 -MONDO:0011644 "An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders." "SCTID:314428001 NCIT:C34903 DOID:12731 GARD:0007339 UMLS:C0030593 MESH:D015868 EFO:1001088 ICD10:H30.2 OMIM:606177 MedDRA:10034052 ICD9:363.21" +MONDO:0011644 "An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders." "SCTID:314428001 NCIT:C34903 DOID:12731 GARD:0007339 UMLS:C0030593 MESH:D015868 EFO:1001088 OMIM:606177 MedDRA:10034052 ICD9:363.21" http://identifiers.org/hgnc/32940 -MONDO:0020538 "Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality." "Orphanet:99912 ICD10:C56 UMLS:CN207439" +MONDO:0020538 "Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality." "ICD10CM:C56 Orphanet:99912 UMLS:CN207439" http://identifiers.org/hgnc/713 HP:0003027 "Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments." "UMLS:C0549306" MONDO:0045029 "SCTID:59258008" MONDO:0004167 "DOID:7267 SCTID:254630009 UMLS:C0345959" MONDO:0000206 -MONDO:0010988 "Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant." "MESH:C563394 SCTID:720499004 GARD:0000756 Orphanet:1117 ICD10:Q84.8 OMIM:601075" +MONDO:0010988 "Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant." "MESH:C563394 SCTID:720499004 GARD:0000756 ICD10CM:Q84.8 Orphanet:1117 OMIM:601075" HP:0000240 "Any abnormality of the size of the skull." "UMLS:C4025874" GO:0019730 "An immune response against microbes mediated through a body fluid. Examples of this process are seen in the antimicrobial humoral response of Drosophila melanogaster and Mus musculus." UBERON:0000468 "Anatomical structure that is an individual member of a species and consists of more than one cell." @@ -10227,7 +10222,7 @@ MONDO:0000873 "A lymphoma composed of immature small to medium-sized precursor l GO:0031933 "OBSOLETE. Heterochromatic regions of the chromosome found at the telomeres." MONDO:0001669 HP:0008056 "UMLS:C4024745" -MONDO:0008289 "Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene." "Orphanet:2940 OMIM:175780 ICD10:I67.3 MESH:C531642 OMIM:607595 Orphanet:99810 UMLS:CN032791 MESH:C564372 DOID:0090125 Orphanet:36383" +MONDO:0008289 "Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene." "Orphanet:2940 OMIM:175780 MESH:C531642 OMIM:607595 Orphanet:99810 UMLS:CN032791 MESH:C564372 DOID:0090125 ICD10CM:I67.3 Orphanet:36383" MONDO:0018506 "Orphanet:423798 UMLS:CN237511" ENVO:01001654 "A material transformation process during which solid or liquid particles form and are suspended in a mass of air, thus creating an aerosol." CL:0000192 "A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast)." "BTO:0004576 FMA:14072 CALOHA:TS-2159" @@ -10244,16 +10239,16 @@ GO:0022008 "Generation of cells within the nervous system." GO:2000272 "Any process that stops, prevents or reduces the frequency, rate or extent of a signaling receptor activity." MONDO:0005360 HP:0002350 "UMLS:C1847762" -MONDO:0009169 "Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia." "Orphanet:2022 SCTID:65457005 EFO:0007251 ICD9:425.3 MESH:D004695 DOID:12929 UMLS:C0014117 MedDRA:10014663 NCIT:C98922 GARD:0006336 ICD10:I42.4 OMIM:226000" -MONDO:0001062 "A malignant neoplasm involving the pyloric antrum." "DOID:10547 ICD10:C16.3 ICD9:151.2 SCTID:187740000 UMLS:C0153419" -MONDO:0007089 "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele." "UMLS:C1863051 GARD:0012799 OMIM:104310 DOID:0110035 MESH:C536595 GARD:0009467 ICD10:G30 Orphanet:1020" +MONDO:0009169 "Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia." "Orphanet:2022 ICD10CM:I42.4 SCTID:65457005 EFO:0007251 ICD9:425.3 MESH:D004695 DOID:12929 UMLS:C0014117 MedDRA:10014663 NCIT:C98922 GARD:0006336 OMIM:226000" +MONDO:0001062 "A malignant neoplasm involving the pyloric antrum." "DOID:10547 ICD9:151.2 SCTID:187740000 UMLS:C0153419" +MONDO:0007089 "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele." "UMLS:C1863051 GARD:0012799 DOID:0110035 OMIM:104310 MESH:C536595 GARD:0009467 ICD10CM:G30 Orphanet:1020" MONDO:0001668 "SCTID:52994003 DOID:13239 ICD9:521.41" MONDO:0006217 "A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components." "NCIT:C7356 ONCOTREE:GBASC UMLS:C1333741 DOID:5627 EFO:1000264" MONDO:0024655 "UMLS:C0264747 SCTID:28381002" -MONDO:0008303 "Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height." "MedDRA:10063654 MedDRA:10063656 ICD10:E30.1 Orphanet:3000 UMLS:C1504412 DOID:0111545 GARD:0004475 SCTID:237818003 OMIM:176410" +MONDO:0008303 "Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height." "ICD10CM:E30.1 MedDRA:10063654 MedDRA:10063656 Orphanet:3000 UMLS:C1504412 DOID:0111545 GARD:0004475 SCTID:237818003 OMIM:176410" MONDO:0045027 MONDO:0000204 "OMIMPS:156610" -MONDO:0016985 "Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter." "UMLS:CN202288 EFO:1000395 Orphanet:263432 ICD10:D22.6 UMLS:C0022283 NCIT:C7582 GARD:0010830" +MONDO:0016985 "Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter." "UMLS:CN202288 EFO:1000395 Orphanet:263432 UMLS:C0022283 NCIT:C7582 GARD:0010830 ICD10CM:D22.6" MONDO:0019702 "SCTID:389236000 Orphanet:93443 UMLS:C1300205" MONDO:0004550 "A melanoma within the cornea of the eye." "NCIT:C4553 UMLS:C0346367 DOID:8400" GO:0050866 "Any process that stops, prevents, or reduces the frequency, rate or extent of cell activation." @@ -10262,91 +10257,91 @@ HP:0001370 "Inflammatory changes in the synovial membranes and articular structu MONDO:0004013 "A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults." "DOID:6848 UMLS:C1515893 NCIT:C40267" MONDO:0001401 "SCTID:188147009 ICD9:174.0 UMLS:C0024621 DOID:11889" HP:0001733 "The presence of inflammation in the pancreas." "SNOMEDCT_US:75694006 UMLS:C0030305 MSH:D010195" -MONDO:0001223 "A disease involving the parathyroid gland." "ICD10:E21.5 ICD9:252.9 UMLS:C0030517 EFO:0005754 SCTID:73132005 MESH:D010279 NCIT:C26844 DOID:11201 ICD9:252.8 ICD9:252" +MONDO:0001223 "A disease involving the parathyroid gland." "ICD9:252.9 UMLS:C0030517 EFO:0005754 SCTID:73132005 MESH:D010279 NCIT:C26844 DOID:11201 ICD9:252.8 ICD9:252" MONDO:0001667 "SCTID:721738002 UMLS:C0947939" GO:0070324 "Binding to thyroxine (T4) or triiodothyronine (T3), tyrosine-based hormones produced by the thyroid gland." -MONDO:0009852 "Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." "DOID:0050734 OMIM:261000 GARD:0003024 SCTID:60504009 UMLS:C1394891 Orphanet:332 MESH:C563242 OMIM:243320 MedDRA:10070440 ICD10:D51.0 ICD9:281.3" -MONDO:0024652 "SCTID:302954008 ICD10:Q50.4" +MONDO:0009852 "Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." "DOID:0050734 OMIM:261000 GARD:0003024 ICD10CM:D51.0 SCTID:60504009 UMLS:C1394891 Orphanet:332 MESH:C563242 OMIM:243320 MedDRA:10070440 ICD9:281.3" +MONDO:0024652 "SCTID:302954008 ICD10CM:Q50.4" CL:0002593 "A smooth muscle of the internal thoracic artery." MONDO:0004324 "A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization." "NCIT:C39951 UMLS:C1515282 DOID:7675" -MONDO:0010323 "Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked." "OMIM:300431 SCTID:718577005 GARD:0003537 ICD10:Q87.8 Orphanet:1193" +MONDO:0010323 "Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked." "OMIM:300431 SCTID:718577005 GARD:0003537 ICD10CM:Q87.8 Orphanet:1193" NCBITaxon:157 "PMID:9734025 PMID:9019153 GC_ID:11 PMID:23961314" MONDO:0000203 MONDO:0005607 "A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." "EFO:0006505 ICD9:491.9 ICD9:491 SCTID:63480004 UMLS:C0008677 NCIT:C26722 ICD9:491.8" -MONDO:0008858 "Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient." "UMLS:C0221061 SCTID:718221007 Orphanet:1239 MESH:C537669 OMIM:210000 ICD10:H35.5 DOID:0111580 GARD:0000849" +MONDO:0008858 "Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient." "UMLS:C0221061 SCTID:718221007 Orphanet:1239 MESH:C537669 OMIM:210000 DOID:0111580 GARD:0000849 ICD10CM:H35.5" MONDO:0019705 "Orphanet:93447" -MONDO:0002413 "Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." "UMLS:C2919796 DOID:2749 OMIM:232240 ICD10:E74.01 ICD10:E74.0 MESH:D005953 SCTID:7265005 OMIM:232220 Orphanet:364 MedDRA:10018464 NCIT:C84733 OMIM:232200" -MONDO:0017306 "SCTID:12957008 UMLS:C0268461 ICD10:E70.1 Orphanet:284814 ICD9:270.8 ICD10:E70.0" +MONDO:0002413 "Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." "UMLS:C2919796 ICD10CM:E74.01 DOID:2749 OMIM:232240 MESH:D005953 SCTID:7265005 OMIM:232220 Orphanet:364 MedDRA:10018464 ICD10CM:E74.0 NCIT:C84733 OMIM:232200" +MONDO:0017306 "ICD10CM:E70.1 SCTID:12957008 UMLS:C0268461 ICD10CM:E70.0 Orphanet:284814 ICD9:270.8" http://identifiers.org/hgnc/10050 -MONDO:0018673 "Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment." "GARD:0013256 UMLS:C4545992 SCTID:762282007 ICD10:G03.9 Orphanet:449427" +MONDO:0018673 "Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment." "GARD:0013256 UMLS:C4545992 SCTID:762282007 ICD10CM:G03.9 Orphanet:449427" MONDO:0043089 "Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications." "GARD:0002183 SCTID:89188001 UMLS:C0154884" CHEBI:25741 "An oxide is a chemical compound of oxygen with other chemical elements." GO:0004689 "Catalysis of the reaction: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a." GO:0002886 "Any process that modulates the frequency, rate, or extent of myeloid leukocyte mediated immunity." -MONDO:0001041 "A dental caries that involves the dentine." "ICD9:521.02 UMLS:C0266846 DOID:10461 SCTID:442551007 ICD10:K02.1" +MONDO:0001041 "A dental caries that involves the dentine." "ICD9:521.02 UMLS:C0266846 DOID:10461 SCTID:442551007" HP:0011443 "UMLS:C4023353" MONDO:0002712 "An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal." "DOID:3617 NCIT:C5424 UMLS:C1333416" MONDO:0012415 "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene." "OMIM:610131 Orphanet:254892 UMLS:C1864668 MESH:C566437 DOID:0111525" MONDO:0000202 GO:0005584 "A collagen trimer containing alpha(I) chains. The most common form of type I collagen is a heterotrimer containing two alpha1(I) chains and one alpha2(I) chain; homotrimers containing three alpha1(I) chains are also found. Type I collagen triple helices associate to form banded fibrils." http://identifiers.org/hgnc/1242 -MONDO:0018642 "A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14)." "ICD10:D81.8 Orphanet:447731" +MONDO:0018642 "A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14)." "ICD10CM:D81.8 Orphanet:447731" IAO:0000030 "A generically dependent continuant that is about some thing."@en MONDO:0019704 "Orphanet:93446" MONDO:0002241 "An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII." GO:2000738 "Any process that activates or increases the frequency, rate or extent of stem cell differentiation." -MONDO:0017307 "ICD9:270.2 Orphanet:284818 SCTID:37200009 ICD10:E70.2 UMLS:CN202881" -MONDO:0013485 "Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." "ICD10:G11.8 GARD:0012366 OMIM:613908 UMLS:C4304822 UMLS:CN202597 DOID:0050982 Orphanet:276193 SCTID:719300001" +MONDO:0017307 "ICD9:270.2 Orphanet:284818 SCTID:37200009 UMLS:CN202881" +MONDO:0013485 "Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis." "GARD:0012366 OMIM:613908 ICD10CM:G11.8 UMLS:C4304822 UMLS:CN202597 DOID:0050982 Orphanet:276193 SCTID:719300001" MONDO:0003786 "A choriocarcinoma that arises from the testis during childhood." "DOID:6160 UMLS:C1333006 NCIT:C6544" -MONDO:0015283 "Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." "UMLS:CN199218 Orphanet:1349 ICD10:I42.8" -MONDO:0002420 "Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)" "ICD10:F95.9 DOID:2769 ICD9:307.20 ICD9:307.2 MESH:D013981 SCTID:568005 ICD10:F95" +MONDO:0015283 "Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance." "UMLS:CN199218 Orphanet:1349 ICD10CM:I42.8" +MONDO:0002420 "Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)" "DOID:2769 ICD10CM:F90-98 ICD9:307.20 ICD9:307.2 MESH:D013981 SCTID:568005" MONDO:0009063 "Orphanet:443988 DOID:0111625 OMIM:219730 UMLS:C1857423" GO:0033341 "Any process that modulates the frequency, rate or extent of collagen binding." MONDO:0007501 "MESH:C563015 OMIM:128700" -MONDO:0001741 "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes." "DOID:13543 UMLS:C0020502 SCTID:66999008 ICD10:E21.3 NCIT:C48259 EFO:0008506 ICD9:252.00 ICD9:252.0 Orphanet:99879 MESH:D006961" +MONDO:0001741 "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes." "DOID:13543 UMLS:C0020502 SCTID:66999008 NCIT:C48259 EFO:0008506 ICD9:252.00 ICD9:252.0 Orphanet:99879 MESH:D006961" CL:0000555 http://identifiers.org/hgnc/24650 MONDO:0007767 "Orphanet:99877 OMIM:145000 Orphanet:99879 UMLS:C1840402" -MONDO:0010604 "Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency." "MedDRA:10016077 OMIM:306900 MESH:D002836 EFO:0009154 NCIT:C26721 UMLS:C0008533 Orphanet:98879 ICD9:286.1 SCTID:41788008 ICD10:D67 GARD:0008732 DOID:12259" +MONDO:0010604 "Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency." "MedDRA:10016077 OMIM:306900 MESH:D002836 EFO:0009154 NCIT:C26721 UMLS:C0008533 Orphanet:98879 ICD9:286.1 SCTID:41788008 GARD:0008732 DOID:12259" MONDO:0054771 "UMLS:CN244547 OMIM:617928" -MONDO:0005165 "A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." "SCTID:20376005 ICD10:D10.D36 DOID:0060084 ICD9:210-229.99 EFO:0002422 ICDO:8000/0 NCIT:C3677 DOID:0060085 ICD9:229.9 ICD9:229.8 DOID:0060072" -MONDO:0015987 "Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt." "MedDRA:10051951 UMLS:C0036400 ICD10:Q26.8 ICD9:747.49 Orphanet:185 SCTID:39905002 MESH:D012587 NCIT:C85056" -MONDO:0019984 "An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects)." "UMLS:CN206914 ICD10:Q63.8 Orphanet:97367" +MONDO:0005165 "A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." "SCTID:20376005 DOID:0060084 ICD10CM:D10-D36 ICD9:210-229.99 EFO:0002422 ICDO:8000/0 NCIT:C3677 ICD9:229.9 DOID:0060085 ICD9:229.8 DOID:0060072" +MONDO:0015987 "Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt." "MedDRA:10051951 ICD10CM:Q26.8 UMLS:C0036400 ICD9:747.49 Orphanet:185 SCTID:39905002 MESH:D012587 NCIT:C85056" +MONDO:0019984 "An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects)." "UMLS:CN206914 Orphanet:97367 ICD10CM:Q63.8" GO:0016817 "Catalysis of the hydrolysis of any acid anhydride." http://identifiers.org/hgnc/21057 MONDO:0015829 "A uterovaginal malformation that is not part of a larger syndrome." "Orphanet:180065" NCBITaxon:12083 "GC_ID:1" http://identifiers.org/hgnc/23452 -MONDO:0012447 "ICD10:Q70.0 Orphanet:93403 UMLS:C1853255 MESH:C565216 Orphanet:295199 OMIM:610234 ICD10:Q70.2" +MONDO:0012447 "Orphanet:93403 UMLS:C1853255 MESH:C565216 Orphanet:295199 OMIM:610234" GO:1904253 "Any process that activates or increases the frequency, rate or extent of bile acid metabolic process." MONDO:0012941 "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene." "OMIM:612567 DOID:0110909 UMLS:C2675508 MESH:C567251 Orphanet:238569" MONDO:0007502 "OMIM:128710" MONDO:0025371 "Virus infections caused by the parvoviridae." "SCTID:83223005 MESH:D010322 ICD9:078.89" -MONDO:0010534 "Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life." "GARD:0009980 OMIM:301840 Orphanet:85292 ICD10:G11.1 SCTID:719818007 UMLS:C1844933 MESH:C537316" +MONDO:0010534 "Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life." "ICD10CM:G11.1 GARD:0009980 OMIM:301840 Orphanet:85292 SCTID:719818007 UMLS:C1844933 MESH:C537316" MFOMD:0000122 "\nA persistent, irrational fear of a specific object, activity, or situation (the phobic stimulus) that results in a compelling desire to avoid it. \n\n\nDSM-IV-TR (american Psychiatric Association)" MONDO:0100277 "Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion." -MONDO:0019904 "Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias." "SCTID:765486004 ICD10:Q93.2 UMLS:C4050314 NCIT:C121982 GARD:0010839 Orphanet:96172" +MONDO:0019904 "Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias." "SCTID:765486004 UMLS:C4050314 NCIT:C121982 GARD:0010839 Orphanet:96172 ICD10CM:Q93.2" MONDO:0054770 "UMLS:CN244546 OMIM:617927" ECTO:0000006 "A exposure event involving the interaction of an exposure receptor to ultraviolet radiation." http://identifiers.org/hgnc/6149 GO:0007499 "A cell-cell signaling process occurring between the two gastrulation-generated layers of the ectoderm and the mesoderm." -MONDO:0019399 "Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia." "Orphanet:84142 SCTID:305719002 ICD10:G71.1 UMLS:CN206101 GARD:0006793 UMLS:C0751919" +MONDO:0019399 "Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia." "Orphanet:84142 SCTID:305719002 UMLS:CN206101 ICD10CM:G71.1 GARD:0006793 UMLS:C0751919" MONDO:0005353 "OBSOLETE. The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." MONDO:0004060 "An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain." "NCIT:C27473 UMLS:C1333306 DOID:6988" MONDO:0044924 http://identifiers.org/hgnc/21056 GO:0002768 "A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell capable of activating, perpetuating, or inhibiting an immune response." -MONDO:0019314 "Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin." "Orphanet:79455 ICD10:Q82.2 GARD:0012687" +MONDO:0019314 "Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin." "Orphanet:79455 ICD10CM:Q82.2 GARD:0012687" MONDO:0015512 "An instance of hypertension that is caused by a modification of the individual's genome." "UMLS:C0598428 Orphanet:156629" HP:0011461 "Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks)." "UMLS:C4023347" NCIT:C19683 "The observable response of a person." MONDO:0013647 -MONDO:0017317 "Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies." "SCTID:723455009 UMLS:C2931658 Orphanet:2874 GARD:0004311 ICD10:Q85.8 MESH:C537893" +MONDO:0017317 "Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies." "SCTID:723455009 UMLS:C2931658 Orphanet:2874 GARD:0004311 ICD10CM:Q85.8 MESH:C537893" MONDO:0007503 "Orphanet:83463 OMIM:128800" -MONDO:0005720 "A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal." "SCTID:70090004 MESH:D015605 EFO:0007225 ICD9:051.01 ICD10:B08.010 DOID:8956 UMLS:C0010232" -MONDO:0004813 "A pneumothorax in which air enters into the pleural cavity." "ICD9:011.71 ICD9:011.72 SCTID:29731002 ICD9:011.73 ICD10:A15.0 ICD9:011.76 DOID:9534 UMLS:C0152600 ICD9:011.7 ICD9:011.70" +MONDO:0005720 "A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal." "SCTID:70090004 MESH:D015605 EFO:0007225 ICD10CM:B08.010 ICD9:051.01 DOID:8956 UMLS:C0010232" +MONDO:0004813 "A pneumothorax in which air enters into the pleural cavity." "ICD9:011.71 ICD9:011.72 SCTID:29731002 ICD9:011.73 ICD9:011.76 DOID:9534 UMLS:C0152600 ICD9:011.7 ICD9:011.70" HP:0000610 "Any structural abnormality of the choroid." "UMLS:C4025836 UMLS:C0008521 MSH:D015862" -MONDO:0017983 "Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated." "Orphanet:3266 ICD10:Q74.0" +MONDO:0017983 "Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated." "Orphanet:3266 ICD10CM:Q74.0" NCBITaxon:242060 "GC_ID:1" MONDO:0006305 HP:0011107 "Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border." "MSH:D013281 SNOMEDCT_US:110426005 SNOMEDCT_US:427617000 UMLS:C2937365 SNOMEDCT_US:426965005 UMLS:C0038363 SNOMEDCT_US:398870000" @@ -10355,7 +10350,7 @@ UBERON:0001851 MONDO:0009060 "UMLS:C1384901 MESH:C563237 OMIM:219600" CL:0000787 "A memory B cell is a mature B cell that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. This cell type has the phenotype CD19-positive, CD20-positive, MHC Class II-positive, and CD138-negative." MONDO:0044921 "NCIT:C7764 UMLS:C0272217 SCTID:20991001" -MONDO:0014846 "Orphanet:404493 UMLS:C4310780 DOID:0111613 OMIM:616949 ICD10:G11.1" +MONDO:0014846 "Orphanet:404493 ICD10CM:G11.1 UMLS:C4310780 DOID:0111613 OMIM:616949" MONDO:0005107 MONDO:0014450 "Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene." "OMIM:616001 UMLS:C4014918 Orphanet:180188" GO:0050806 "Any process that activates or increases the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse." @@ -10365,47 +10360,48 @@ MONDO:0007733 "Any holoprosencephaly in which the cause of the disease is a muta HP:0005558 "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia." "SNOMEDCT_US:128933000 UMLS:C1279296 SNOMEDCT_US:92812005 UMLS:C4280478" MONDO:0045021 "ICD9:271.3 SCTID:190753003" CHEBI:50908 "A role played by a chemical compound exihibiting itself through the ability to induce damage to the liver in animals." -MONDO:0006591 "Inflammation of the subcutaneous adipose tissue." "NCIT:C112112 MESH:D015434 EFO:1000746 Wikipedia:Panniculitis DOID:1526 ICD9:729.30 SCTID:22125009 UMLS:C0030326 ICD9:729.3 NCIT:C33645 ICD10:M79.3 ICD9:729.39" +MONDO:0006591 "Inflammation of the subcutaneous adipose tissue." "NCIT:C112112 MESH:D015434 EFO:1000746 Wikipedia:Panniculitis DOID:1526 ICD9:729.30 SCTID:22125009 UMLS:C0030326 ICD9:729.3 NCIT:C33645 ICD9:729.39" MONDO:0005987 "Infections with nematodes of the genus toxascaris." "EFO:0007515 MESH:D017227 DOID:3107 UMLS:C0040522" -MONDO:0014853 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene." "UMLS:C4310775 OMIM:616968 DOID:0110592 ICD10:H90.3" +MONDO:0100490 "OMIM:113700" +MONDO:0014853 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene." "UMLS:C4310775 OMIM:616968 DOID:0110592" MONDO:0015509 "Genetic biliary tract disease." "UMLS:CN199642 Orphanet:156607" -MONDO:0002037 "A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor." "ICD9:518.89 MESH:D010995 SCTID:88075009 DOID:1532 NCIT:C26859 UMLS:C0032226" +MONDO:0002037 "A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor." "ICD10CM:J90-J94 ICD9:518.89 MESH:D010995 SCTID:88075009 DOID:1532 NCIT:C26859 UMLS:C0032226" MONDO:0005368 -MONDO:0007763 "Orphanet:422526 ICD10:C64 DOID:0050387 Orphanet:319276 OMIM:144700" -MONDO:0007844 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." "ICD10:E23.0 GARD:0003070 OMIM:147950 UMLS:C1563720 DOID:0090083" -MONDO:0001464 "A malignant neoplasm involving the sigmoid colon." "ICD9:153.3 UMLS:C0153436 ICD10:C18.7 DOID:12192 SCTID:363410008" +MONDO:0007763 "Orphanet:422526 DOID:0050387 Orphanet:319276 OMIM:144700 ICD10CM:C64" +MONDO:0007844 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." "GARD:0003070 OMIM:147950 UMLS:C1563720 DOID:0090083" +MONDO:0001464 "A malignant neoplasm involving the sigmoid colon." "ICD9:153.3 UMLS:C0153436 DOID:12192 SCTID:363410008" MONDO:0004201 "Incomplete development of the pituitary gland." "DOID:7378 UMLS:C0948740 NCIT:C27343" MONDO:0002609 MONDO:0100456 "A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay." MONDO:0003807 MONDO:0014848 "EFO:0009061 UMLS:C4310778 OMIM:616954 Orphanet:488642" ENVO:01000638 "A planetary crust is the outermost solid shell of a rocky planet or natural satellite, which is chemically distinct from the underlying mantle." -MONDO:0013365 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2." "OMIM:613685 ICD10:H90.3 DOID:0110528" +MONDO:0013365 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2." "OMIM:613685 DOID:0110528" http://identifiers.org/hgnc/970 ENVO:01001679 "A fluid interface which separates two fluid masses with differing properties." http://identifiers.org/hgnc/17348 -MONDO:0018615 "Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied." "Orphanet:443070 ICD10:G44.0 ICD10:G44.51 ICD9:339.41 SCTID:443095000 UMLS:C2349425 GARD:0010795 UMLS:CN237652" +MONDO:0018615 "Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied." "Orphanet:443070 ICD10CM:G44.0 ICD9:339.41 ICD10CM:G44.51 SCTID:443095000 UMLS:C2349425 GARD:0010795 UMLS:CN237652" MONDO:0008968 "MESH:C565856 OMIM:214980 UMLS:C1859161" MONDO:0010969 "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene." "GARD:0010655 MESH:C563415 UMLS:C1832976 DOID:0111010 OMIM:600977" -MONDO:0012743 "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene." "DOID:0110221 GARD:0010362 MESH:C567508 Orphanet:130 ICD10:I49.8 UMLS:C2678477 OMIM:611876" +MONDO:0012743 "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene." "DOID:0110221 GARD:0010362 MESH:C567508 Orphanet:130 UMLS:C2678477 OMIM:611876" HP:0011947 "An infection of the upper or lower respiratory tract." "MSH:D012141 SNOMEDCT_US:275498002 UMLS:C0035243" MONDO:0008017 "A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition." "GARD:0005427 MESH:C536476 OMIM:158310 ICD9:478.79 SCTID:403442005 Orphanet:1839" -MONDO:0009044 "Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." "DOID:3803 UMLS:C0010324 ICD10:E80.5 NCIT:C84656 Orphanet:205 MedDRA:10011386 SCTID:8933000 SCTID:28259009 OMIM:218800 OMIM:606785 UMLS:CN119421 MESH:D003414" +MONDO:0009044 "Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." "DOID:3803 UMLS:C0010324 ICD10CM:E80.5 NCIT:C84656 Orphanet:205 MedDRA:10011386 SCTID:8933000 SCTID:28259009 OMIM:218800 OMIM:606785 UMLS:CN119421 MESH:D003414" MONDO:0008734 "An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome." "Orphanet:1501 UMLS:C1859972 OMIM:202300" -MONDO:0003009 "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia." "OMIM:613677 MESH:D006929 NCIT:C113213 UMLS:C0020428 SCTID:88213004 OMIM:605635 ICD9:255.1 DOID:446 ICD9:255.10 ICD10:E26 Orphanet:235936 ICD10:E26.9" +MONDO:0003009 "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia." "ICD10CM:E26 OMIM:613677 MESH:D006929 NCIT:C113213 UMLS:C0020428 SCTID:88213004 ICD9:255.1 OMIM:605635 ICD9:255.10 DOID:446 Orphanet:235936" NCBITaxon:12086 "GC_ID:1" GO:1901532 "Any process that modulates the frequency, rate or extent of hematopoietic progenitor cell differentiation." -MONDO:0016584 "Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy." "ICD10:Q87.5 GARD:0011893 Orphanet:2457 UMLS:CN118835 OMIM:608612 OMIM:248370 OMIMPS:248370" -MONDO:0004769 "A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis)." "SCTID:80698001 DOID:9369 MESH:D016727 ICD10:H05.11 SCTID:72789009 NCIT:C117296 ICD9:376.12" +MONDO:0016584 "Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy." "GARD:0011893 Orphanet:2457 UMLS:CN118835 ICD10CM:Q87.5 OMIM:608612 OMIM:248370 OMIMPS:248370" +MONDO:0004769 "A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis)." "SCTID:80698001 DOID:9369 MESH:D016727 SCTID:72789009 NCIT:C117296 ICD9:376.12" MONDO:0014849 "OMIM:616958" MONDO:0005416 "Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)" "MESH:D020370 EFO:0004616" http://identifiers.org/hgnc/17349 MONDO:0006250 "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "UMLS:C0745216 NCIT:C4935 SCTID:425318003 ICD9:209.03 EFO:1000300" -MONDO:0007232 "Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood." "GARD:0010429 SCTID:717264003 ICD10:Q76.3 OMIM:113500 Orphanet:93304" +MONDO:0007232 "Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood." "GARD:0010429 SCTID:717264003 ICD10CM:Q76.3 OMIM:113500 Orphanet:93304" MONDO:0003716 "A papillary transitional cell carcinoma that arises from the renal pelvis." "NCIT:C6148 UMLS:C1377909 DOID:5973" http://identifiers.org/hgnc/6144 CL:0002080 "A cubodial epithelial cell that is continuous with the lining of intercalated ducts that drain the acinus. This cell type secretes a high pH solution to aid in activation of zymogens, and can differentiate into endocrine and exocrine pancreatic cell types." "FMA:62455" -MONDO:0007765 "MESH:C564168 OMIM:144755 HP:0005890 ICD10:M85.2 Orphanet:443098" +MONDO:0007765 "MESH:C564168 ICD10CM:M85.2 OMIM:144755 HP:0005890 Orphanet:443098" MONDO:0009065 MONDO:0002607 MONDO:0003431 "An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells." "NCIT:C4159 UMLS:C0334325 DOID:5398 ICDO:8324/0" @@ -10413,7 +10409,7 @@ http://identifiers.org/hgnc/30546 GO:0050680 "Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation." CL:1000143 CHR:9606-chr11p15-p14 -MONDO:0010138 "A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis." "SCTID:90739004 DOID:7997 ICD10:E05.9 ICD9:242.80 OMIM:275000 ICD9:242 MESH:D013971 UMLS:C0040156 ICD9:242.90 NCIT:C61469 EFO:0009190" +MONDO:0010138 "A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis." "SCTID:90739004 DOID:7997 ICD9:242.80 ICD9:242 MESH:D013971 UMLS:C0040156 ICD9:242.90 NCIT:C61469 EFO:0009190" NCBITaxon:12089 "GC_ID:1" MONDO:0000803 "OBSOLETE. A allergy involving a Penaeus monodon." "DOID:0060528" MONDO:0021051 @@ -10422,50 +10418,50 @@ MONDO:0009948 "An autosomal recessive inherited severe hemolytic anemia. It is a GO:0071624 "Any process that increases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus." BFO:0000020 "b is a specifically dependent continuant = Def. b is a continuant & there is some independent continuant c which is not a spatial region and which is such that b s-depends_on c at every time t during the course of b’s existence. (axiom label in BFO2 Reference: [050-003])"@en NCBITaxon:33511 "GC_ID:1" -MONDO:0007500 "ICD9:744.29 OMIM:128600 ICD9:744.3 SCTID:275259005" +MONDO:0007500 "ICD10CM:Q10-Q18 ICD9:744.29 OMIM:128600 ICD9:744.3 SCTID:275259005" http://identifiers.org/hgnc/6143 -MONDO:0004570 "Twisting of a loop of bowel that results in intestinal obstruction." "NCIT:C98963 UMLS:C0042961 EFO:1000989 ICD9:560.2 DOID:8445 ICD10:K56.2 SCTID:9707006 MESH:D045822" +MONDO:0004570 "Twisting of a loop of bowel that results in intestinal obstruction." "NCIT:C98963 ICD10CM:K56.2 UMLS:C0042961 EFO:1000989 ICD9:560.2 DOID:8445 SCTID:9707006 MESH:D045822" MONDO:0002608 -MONDO:0019993 "A narrowing of renal arteries that is present since birth." "SCTID:271432005 ICD10:Q27.1 Orphanet:97598" +MONDO:0019993 "A narrowing of renal arteries that is present since birth." "SCTID:271432005 Orphanet:97598 ICD10CM:Q27.1" MONDO:0054776 "UMLS:CN244552 OMIM:617935" MONDO:0045017 "A disease that has its basis in the disruption of cholesterol biosynthetic process." "SCTID:238036004 UMLS:C0342829" MONDO:0006522 "Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications." "SCTID:400166009 DOID:13072 EFO:1000663 NCIT:C34746 ICD9:701.1" MONDO:0021099 "A neoplastic process characterized by the presence of multiple intraductal papillomas." "UMLS:C0334377 ICDO:8505/0 NCIT:C7363" -MONDO:0017160 "Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." "Orphanet:275864 OMIM:616437 OMIM:600795 SCTID:716994006 UMLS:C4011788 OMIM:600274 ICD10:G31.0" -MONDO:0017831 "Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." "ICD10:E75.2 Orphanet:314918" -MONDO:0011984 "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene." "Orphanet:93403 ICD10:Q70.2 Orphanet:295197 UMLS:C1842422 ICD10:Q70.0 MESH:C564278 OMIM:608180" +MONDO:0017160 "Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy." "Orphanet:275864 OMIM:616437 OMIM:600795 SCTID:716994006 UMLS:C4011788 OMIM:600274 ICD10CM:G31.0" +MONDO:0017831 "Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." "ICD10CM:E75.2 Orphanet:314918" +MONDO:0011984 "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene." "Orphanet:93403 Orphanet:295197 UMLS:C1842422 MESH:C564278 OMIM:608180" MONDO:0042970 "A disease that has its basis in the disruption of glutamate decarboxylase activity." "UMLS:C1291560 GTR:AN0168165 GTR:AN0264281 GARD:0002505 SCTID:124596009 MEDGEN:452941 ICD9:277.6" -MONDO:0007064 "A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." "NCIT:C3962 EFO:0009147 CSP:1560-6660 SCTID:44940001 GARD:0005748 Orphanet:277 MedDRA:10066367 ICD10:D81.3 OMIM:102700 MESH:C531816 ICD9:277.2 DOID:5810" +MONDO:0007064 "A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." "NCIT:C3962 EFO:0009147 CSP:1560-6660 SCTID:44940001 GARD:0005748 Orphanet:277 MedDRA:10066367 OMIM:102700 MESH:C531816 ICD9:277.2 DOID:5810" MONDO:0025457 "A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus." "MESH:D011648 UMLS:C0034049" MONDO:0006568 MONDO:0004943 "A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas." "SCTID:699354006 NCIT:C6095 DOID:9987 UMLS:C1335131" NCBITaxon:11723 "GC_ID:1" http://identifiers.org/hgnc/21054 -MONDO:0002026 "Infection with the organism Candida." "SCTID:78048006 NCIT:C26711 MESH:D002177 ICD9:112.9 ICD10:B37.9 ICD9:112 UMLS:C0006840 ICD9:112.89 DOID:1508 ICD10:B37" +MONDO:0002026 "Infection with the organism Candida." "SCTID:78048006 NCIT:C26711 MESH:D002177 ICD10CM:B37 UMLS:C0006840 ICD9:112.9 ICD9:112 ICD9:112.89 DOID:1508" GO:0032092 "Any process that activates or increases the frequency, rate or extent of protein binding." -MONDO:0012648 "An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25)." "OMIM:611283 NCIT:C129975 ICD10:E71.1 MESH:C535541 GARD:0010223 Orphanet:79159 UMLS:C1969809" -MONDO:0014282 "Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene." "UMLS:C3810160 Orphanet:401849 DOID:0110817 ICD10:G11.4 OMIM:615625" +MONDO:0012648 "An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25)." "ICD10CM:E71.1 OMIM:611283 NCIT:C129975 MESH:C535541 GARD:0010223 Orphanet:79159 UMLS:C1969809" +MONDO:0014282 "Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene." "ICD10CM:G11.4 UMLS:C3810160 Orphanet:401849 DOID:0110817 OMIM:615625" MONDO:0005866 "An infection that is caused by Mycobacterium avium." "ICD9:031.8 UMLS:C0026916 NCIT:C36197 GARD:0009236 MESH:D015270 EFO:0007386 DOID:2755 SCTID:373436002" MONDO:0060622 "OMIM:617804 UMLS:C4540496" MONDO:0016111 "Orphanet:206659" MONDO:0020661 "An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio." "NCIT:C121799" UBERON:0015146 -MONDO:0009426 "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features." "GARD:0000411 ICD10:Q87.1 DOID:0060348 UMLS:C1855840 OMIM:241410 NCIT:C133727 Orphanet:2323 MESH:C537157" +MONDO:0009426 "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features." "GARD:0000411 DOID:0060348 UMLS:C1855840 ICD10CM:Q87.1 OMIM:241410 NCIT:C133727 Orphanet:2323 MESH:C537157" MONDO:0009059 "MESH:C565659 UMLS:C1857438 OMIM:219550" MONDO:0013501 "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene." "DOID:0060205 OMIM:613954 Orphanet:803 Orphanet:275872 UMLS:C3151403" http://identifiers.org/hgnc/21061 GO:0090276 "Any process that modulates the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules." -MONDO:0013015 "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene." "UMLS:C2748541 Orphanet:130 OMIM:612838 ICD10:I49.8 Orphanet:871 DOID:0110222" +MONDO:0013015 "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene." "UMLS:C2748541 Orphanet:130 OMIM:612838 Orphanet:871 DOID:0110222" MONDO:0015179 "UMLS:CN197521 Orphanet:104004" -MONDO:0012165 "BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome." "MESH:C567672 OMIM:608980 GARD:0010595 SCTID:717940006 ICD10:Q87.8 UMLS:C4303547 UMLS:C2750433 Orphanet:217266" +MONDO:0012165 "BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome." "MESH:C567672 OMIM:608980 GARD:0010595 ICD10CM:Q87.8 SCTID:717940006 UMLS:C4303547 UMLS:C2750433 Orphanet:217266" http://identifiers.org/hgnc/19977 http://identifiers.org/hgnc/4847 -MONDO:0001945 "A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism." "UMLS:C0030568 DOID:14332 SCTID:19972008 Orphanet:97349 MESH:D010301 ICD10:G21.3 NCIT:C34898 EFO:1001402" +MONDO:0001945 "A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism." "UMLS:C0030568 DOID:14332 SCTID:19972008 Orphanet:97349 MESH:D010301 NCIT:C34898 EFO:1001402" MONDO:0011241 "OMIM:602511 MESH:C566531 UMLS:C1865284" MONDO:0018773 "Orphanet:476093 UMLS:CN776822" MONDO:0014085 "Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene." "OMIM:615219 UMLS:C3554691 Orphanet:2185" MONDO:0021311 "A cancer that involves the parathyroid gland." "NCIT:C9322 SCTID:363481002 ICD9:194.1 ONCOTREE:PTH" -MONDO:0016376 "Orphanet:221142 ICD10:L90.8" +MONDO:0016376 "Orphanet:221142 ICD10CM:L90.8" HP:0010465 "The onset of puberty before the age of 8 years in girls." "SNOMEDCT_US:19911007 UMLS:C0271616" MONDO:0060621 "UMLS:C4540493 OMIM:617802" MONDO:0032939 "OMIM:618825" @@ -10473,31 +10469,31 @@ MONDO:0006192 "A primary endometrial adenocarcinoma composed of neoplastic cells HP:0010993 "An abnormality of the cerebral subcortex." "UMLS:C4021207" UBERON:0015147 MONDO:0012440 "OMIM:610208" -MONDO:0017091 "Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection." "OMIM:615752 ICD10:Q04.3 OMIM:612691 OMIM:300388 OMIM:616531 SCTID:765757003 OMIM:614833 OMIM:606854 OMIM:610031 Orphanet:268940" +MONDO:0017091 "Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection." "OMIM:615752 OMIM:612691 OMIM:300388 OMIM:616531 ICD10CM:Q04.3 SCTID:765757003 OMIM:614833 OMIM:606854 OMIM:610031 Orphanet:268940" GO:2000677 "Any process that modulates the frequency, rate or extent of transcription regulatory region DNA binding." CHEBI:38632 "Any agent that affects the transport of molecular entities across a biological membrane." -MONDO:0014434 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene." "ICD10:Q87.89 UMLS:C3892039 OMIM:615983 GARD:0010204 OMIM:209900 EFO:0009025 DOID:0110127" +MONDO:0014434 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene." "UMLS:C3892039 OMIM:615983 GARD:0010204 OMIM:209900 EFO:0009025 DOID:0110127" MONDO:0008959 "UMLS:CN199447 OMIM:214350 Orphanet:1401 UMLS:C0406733 SCTID:239037001 MESH:C538074" MONDO:0015178 "Orphanet:104003" NCBITaxon:297308 "GC_ID:1" MONDO:0700001 "A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient." MONDO:0009310 "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene." "UMLS:C1856245 Orphanet:379 MESH:C565531 OMIM:233710 DOID:0070191" -MONDO:0010412 "X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported." "MESH:C567471 ICD10:Q87.8 OMIM:300712 UMLS:C2678036 Orphanet:163979" +MONDO:0010412 "X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported." "MESH:C567471 OMIM:300712 UMLS:C2678036 ICD10CM:Q87.8 Orphanet:163979" MONDO:0004240 "A malignant neoplasm that affects the portion of the urethra that is close to the bladder." "UMLS:C0279931 DOID:7488 NCIT:C7640" MONDO:0004522 "Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment." "ICD9:567.89 NCIT:C26849 DOID:8283 SCTID:86422009 ICD9:567.82 ICD9:567.8 EFO:0008588" MONDO:0100381 "Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)" "NCIT:C132105 NCIT:C36610" -MONDO:0006372 "An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." "SCTID:608817003 Orphanet:251623 ONCOTREE:PTCY ICDO:9432/1 EFO:1000477 UMLS:C2986550 ICD9:237.0 NCIT:C94524 ICD10:C71.9" +MONDO:0006372 "An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido." "SCTID:608817003 ICD10CM:C71.9 Orphanet:251623 ONCOTREE:PTCY ICDO:9432/1 EFO:1000477 UMLS:C2986550 ICD9:237.0 NCIT:C94524" CL:1000286 "A smooth muscle cell that is part of the rectum." "FMA:17522" -MONDO:0000706 "A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically." "DOID:0060186 ICD9:558.9 ICD9:558 ICD10:K52 SCTID:72965009" +MONDO:0000706 "A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically." "DOID:0060186 ICD9:558.9 ICD9:558 SCTID:72965009" GO:0043233 "The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen." GO:0044448 "OBSOLETE. Any constituent part of the cell cortex, the region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins." ECTO:4000028 "A exposure event involving the interaction of an exposure receptor to frozen of air." -MONDO:0003785 "A laboratory test result indicating a decreased number of white blood cells in the peripheral blood." "EFO:0004233 UMLS:C0023530 ICD10:D72.819 MESH:D007970 ICD9:288.50 NCIT:C26816 SCTID:84828003 DOID:615" +MONDO:0003785 "A laboratory test result indicating a decreased number of white blood cells in the peripheral blood." "EFO:0004233 UMLS:C0023530 MESH:D007970 ICD9:288.50 NCIT:C26816 SCTID:84828003 DOID:615" MONDO:0060624 "OMIM:617807 UMLS:C4540498" MPATH:608 "A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation." MONDO:0016375 "UMLS:CN226913 Orphanet:221114" NCBITaxon:35082 "GC_ID:1" -MONDO:0020413 "Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations." "ICD10:Q25.4 Orphanet:99075 SCTID:764521002" +MONDO:0020413 "Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations." "ICD10CM:Q25.4 Orphanet:99075 SCTID:764521002" UBERON:0034696 MONDO:0004972 "A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." "EFO:0000232 MESH:D000236 SCTID:443416007 UMLS:C0001430 ICDO:8140/0 DOID:657 NCIT:C2855" http://identifiers.org/hgnc/30539 @@ -10509,20 +10505,20 @@ FOODON:03411433 "The term shellfish is used both broadly and specifically. For r GO:0046660 "The establishment of the sex of a female organism by physical differentiation." GO:0045117 "The directed movement of azoles, heterocyclic compounds found in many biologically important substances, across a lipid bilayer, across a membrane." MONDO:0009057 "MESH:C565660 UMLS:C1857443 OMIM:219400" -MONDO:0011873 "Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person." "Orphanet:646 ICD10:E75.2 UMLS:C1843366 DOID:0070114 MESH:C536119 GARD:0003992 NCIT:C126865 OMIM:607625" +MONDO:0011873 "Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person." "Orphanet:646 UMLS:C1843366 DOID:0070114 MESH:C536119 GARD:0003992 NCIT:C126865 OMIM:607625" MONDO:0010053 "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene." "Orphanet:822 OMIM:270970 UMLS:C2678338 DOID:0110918 MESH:C567489" -MONDO:0010110 "Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." "GARD:0000386 SCTID:716249009 ICD10:Q87.8 Orphanet:3301 UMLS:C2931218 MESH:C536500" +MONDO:0010110 "Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." "GARD:0000386 OMIM:273395 SCTID:716249009 ICD10CM:Q87.8 Orphanet:3301 UMLS:C2931218 MESH:C536500" UBERON:0015144 MONDO:0013640 "SCTID:764452004 GARD:0012779 UMLS:C3280205 Orphanet:284247 OMIM:614224" MONDO:0021282 "A malignant teratoma that involves the testis." "SCTID:416769008 ICD9:186.9 UMLS:C1334154 NCIT:C6353" http://identifiers.org/hgnc/11247 MONDO:0009056 "OMIM:219300 UMLS:C1857444 Orphanet:1557" GO:0007586 "The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism." -MONDO:0011449 "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." "GARD:0004754 ICD10:E77.8 SCTID:87074006 MedDRA:10067531 UMLS:C1096903 Orphanet:834 Orphanet:309334 OMIM:604369 NCIT:C85067" -MONDO:0009722 "Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." "SCTID:723439002 MESH:C538343 ICD10:G71.2 GARD:0008432 UMLS:C1850625 DOID:0060346 OMIM:255995 Orphanet:168572" -MONDO:0016765 "19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." "Orphanet:254346 UMLS:C4304579 GARD:0010991 ICD10:Q93.5 SCTID:719597005 UMLS:CN202023" -MONDO:0020323 "A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)" "UMLS:C1292754 ICD10:C83.3 NCIT:C9280 Orphanet:98838 MedDRA:10036710 ONCOTREE:PMBL DOID:0080210 SCTID:444910004 ICDO:9679/3 ICD10:C85.2" -MONDO:0018055 "Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age." "GARD:0009331 Orphanet:33402 DOID:0070322 ICD10:C22.0 NCIT:C7955 UMLS:CN204349" +MONDO:0011449 "Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive." "GARD:0004754 SCTID:87074006 MedDRA:10067531 UMLS:C1096903 Orphanet:834 ICD10CM:E77.8 Orphanet:309334 OMIM:604369 NCIT:C85067" +MONDO:0009722 "Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." "SCTID:723439002 MESH:C538343 GARD:0008432 UMLS:C1850625 ICD10CM:G71.2 DOID:0060346 OMIM:255995 Orphanet:168572" +MONDO:0016765 "19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." "Orphanet:254346 UMLS:C4304579 GARD:0010991 ICD10CM:Q93.5 SCTID:719597005 UMLS:CN202023" +MONDO:0020323 "A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)" "ICD10CM:C83.3 UMLS:C1292754 NCIT:C9280 Orphanet:98838 MedDRA:10036710 ONCOTREE:PMBL DOID:0080210 ICDO:9679/3 SCTID:444910004" +MONDO:0018055 "Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age." "GARD:0009331 Orphanet:33402 DOID:0070322 ICD10CM:C22.0 NCIT:C7955 UMLS:CN204349" GO:0032782 "The regulated release of bile acid, composed of any of a group of steroid carboxylic acids occurring in bile, by a cell or a tissue." MONDO:0014150 "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability." "GARD:0013197 Orphanet:1942 OMIM:615369 DOID:0060475 UMLS:C3809278 Orphanet:2382" GO:0019438 "The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring." @@ -10535,56 +10531,56 @@ UBERON:0037191 MONDO:0008957 "OMIM:214290 MESH:C562952" UBERON:0015145 GO:0030162 "Any process that modulates the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein." -MONDO:0005767 "A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases." "EFO:0007279 DOID:9159 MESH:D005738 ICD9:040.0 ICD10:A48.0 SCTID:80466000 UMLS:C0017105" -MONDO:0022754 "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17." "MESH:C538045 Orphanet:261965 UMLS:CN036220 NCIT:C36499 GARD:0006075 ICD10:Q93.5" +MONDO:0005767 "A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases." "EFO:0007279 DOID:9159 MESH:D005738 ICD9:040.0 ICD10CM:A48.0 SCTID:80466000 UMLS:C0017105" +MONDO:0022754 "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17." "UMLS:CN036220 NCIT:C36499 ICD10CM:Q93.5 Orphanet:261965 GARD:0006075 MESH:C538045" http://identifiers.org/hgnc/17340 MONDO:0015328 "OBSOLETE. Any of the forms of bone development disease that have a rare incidence." "Orphanet:139012 NCIT:C34432" MONDO:0100220 "OMIM:619013" -MONDO:0016027 "A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life." "OMIM:121200 OMIM:608217 OMIM:269720 OMIMPS:121200 MedDRA:10067866 Orphanet:1949 OMIM:121201 NCIT:C117307 UMLS:C1852581 SCTID:38281008 ICD10:G40.3 DOID:14264" +MONDO:0016027 "A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life." "OMIM:121200 OMIM:608217 OMIM:269720 OMIMPS:121200 MedDRA:10067866 Orphanet:1949 OMIM:121201 NCIT:C117307 UMLS:C1852581 SCTID:38281008 ICD10CM:G40.3 DOID:14264" MONDO:0007759 "OMIM:144250" -MONDO:0019583 "Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM." "Orphanet:90398 ICD10:L98.5" +MONDO:0019583 "Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM." "ICD10CM:L98.5 Orphanet:90398" CL:0002585 "A blood vessel endothelial cell that is part of the retina." -MONDO:0019504 "Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both." "Orphanet:88633 UMLS:C0339229 SCTID:231903005 GARD:0010940 ICD10:H16.2 ICD9:370.49" +MONDO:0019504 "Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both." "ICD10CM:H16.2 Orphanet:88633 UMLS:C0339229 SCTID:231903005 GARD:0010940 ICD9:370.49" MONDO:0032936 "OMIM:618822" -MONDO:0015809 "A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported." "MESH:D056267 Orphanet:178517 ICD10:C84.0 UMLS:C1276140 SCTID:404120006 NCIT:C35794 ICD9:202.70" -MONDO:0011246 "UMLS:C1865233 OMIM:602541 ICD10:G71.2 Orphanet:280671 MESH:C566527 GARD:0010317 DOID:0110632" -MONDO:0016373 "Orphanet:221106 ICD10:G51.4" +MONDO:0015809 "A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported." "MESH:D056267 Orphanet:178517 ICD10CM:C84.0 UMLS:C1276140 SCTID:404120006 NCIT:C35794 ICD9:202.70" +MONDO:0011246 "UMLS:C1865233 OMIM:602541 ICD10CM:G71.2 Orphanet:280671 MESH:C566527 GARD:0010317 DOID:0110632" +MONDO:0016373 "Orphanet:221106 ICD10CM:G51.4" MONDO:0014051 "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene." "OMIM:615119 Orphanet:1561 UMLS:C3554534 DOID:0080358" MONDO:0020074 "A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system." "OMIM:254900 OMIM:310370 OMIM:612437 NCIT:C7636 OMIM:614018 DOID:891 OMIM:611726 GARD:0007140 UMLS:C0751778 Orphanet:98261 OMIMPS:254800 MESH:D020191 SCTID:267581004" HP:0002329 "Excessive daytime sleepiness." "MSH:D012894 UMLS:C0013144 SNOMEDCT_US:271782001 SNOMEDCT_US:79519003" -MONDO:0014882 "Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated." "Orphanet:466722 ICD10:G11.4 UMLS:C4310750 DOID:0110822 OMIM:617046" +MONDO:0014882 "Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated." "Orphanet:466722 ICD10CM:G11.4 UMLS:C4310750 DOID:0110822 OMIM:617046" MONDO:0010048 "OMIM:270805 MESH:C564810 UMLS:C1849114" NCBITaxon:12091 "GC_ID:1" -MONDO:0009233 "Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait." "UMLS:C1856727 ICD10:Q87.8 SCTID:716094008 MESH:C537226 Orphanet:2256 GARD:0000320 OMIM:228940" +MONDO:0009233 "Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait." "ICD10CM:Q87.8 UMLS:C1856727 SCTID:716094008 MESH:C537226 Orphanet:2256 GARD:0000320 OMIM:228940" MONDO:0013551 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene." "UMLS:C3279738 Orphanet:280763 NCIT:C164224 DOID:0110799 OMIM:614066" CL:0002257 "An epithelial cell of thyroid gland." "FMA:256167" UBERON:0015142 -MONDO:0011663 "Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." "GARD:0004485 MESH:C536416 Orphanet:247604 SCTID:717964007 OMIM:606353 UMLS:C1853396 ICD10:G12.2" +MONDO:0011663 "Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." "GARD:0004485 Orphanet:247604 MESH:C536416 SCTID:717964007 OMIM:606353 ICD10CM:G12.2 UMLS:C1853396" MONDO:0012443 "UMLS:C1857749 OMIM:610213 MESH:C565700" MONDO:0033281 "Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene." "DOID:0080273 OMIM:617610" ENVO:01000554 "A gas that is primarily composed of hydrocarbon molecules." -MONDO:0014290 "COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder." "SCTID:732264002 UMLS:C3810230 OMIM:615643 ICD10:G23.0 GARD:0012571 Orphanet:397725 DOID:0110740" +MONDO:0014290 "COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder." "ICD10CM:G23.0 SCTID:732264002 UMLS:C3810230 OMIM:615643 GARD:0012571 Orphanet:397725 DOID:0110740" http://identifiers.org/hgnc/17341 -MONDO:0017499 "Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand." "ICD10:Q71.2 ICD10:Q71.23 Orphanet:295095" +MONDO:0017499 "Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand." "ICD10CM:Q71.2 ICD10CM:Q71.23 Orphanet:295095" MONDO:0100221 "OMIM:619016" MONDO:0002585 "Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent." "DOID:3274 UMLS:C0334056 NCIT:C6940" MONDO:0015983 "OBSOLETE. Rare genetic syndromic intellectual disability." "Orphanet:183763 UMLS:CN226822" MONDO:0011298 "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p." "UMLS:C1864124 OMIM:603206 DOID:0070084" MONDO:0032935 "OMIM:618821" MONDO:0011245 "OMIM:602540 Orphanet:477 UMLS:C1865234 MESH:C566528" -MONDO:0004583 "A partial, temporary occlusion of the retinal artery." "ICD9:362.34 UMLS:C0154840 SCTID:87224000 DOID:8482 ICD10:H34.0 NCIT:C35193" +MONDO:0004583 "A partial, temporary occlusion of the retinal artery." "ICD9:362.34 UMLS:C0154840 SCTID:87224000 DOID:8482 NCIT:C35193" MONDO:0011498 "A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2." "OMIM:604906 UMLS:C1858050 DOID:0070085" NCBITaxon:12090 "GC_ID:1" MONDO:0003263 "A neoplasm that affects the cerebellum and occurs during childhood." "UMLS:C1332959 DOID:5059 NCIT:C5970" -MONDO:0015174 "UMLS:CN226617 ICD10:K52.8 Orphanet:103917" +MONDO:0015174 "ICD10CM:K52.8 UMLS:CN226617 Orphanet:103917" UBERON:0015143 -MONDO:0012444 "ICD10:G23.0 Orphanet:35069 DOID:0110736 GARD:0010688 OMIM:610217" -MONDO:0012118 "COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex." "OMIM:608779 ICD10:E77.8 GARD:0009842 SCTID:717773005 MESH:C535754 Orphanet:79333" -MONDO:0006660 "A localized vasculitis resulting from deposition of antibody-antigen complexes." "EFO:1000821 UMLS:C0003907 MedDRA:10003420 MESH:D001183 ICD9:995.21 ICD9:708.8 DOID:1556 ICD10:T78.41 NCIT:C34400 SCTID:402413008" +MONDO:0012444 "Orphanet:35069 DOID:0110736 GARD:0010688 OMIM:610217" +MONDO:0012118 "COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex." "OMIM:608779 GARD:0009842 SCTID:717773005 ICD10CM:E77.8 MESH:C535754 Orphanet:79333" +MONDO:0006660 "A localized vasculitis resulting from deposition of antibody-antigen complexes." "EFO:1000821 UMLS:C0003907 MedDRA:10003420 MESH:D001183 ICD9:995.21 ICD9:708.8 DOID:1556 NCIT:C34400 SCTID:402413008" NCBITaxon:119225 "GC_ID:1" MONDO:0011196 "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene." "GARD:0010503 OMIM:602099 DOID:0060197 Orphanet:300605 MESH:C566576 UMLS:C1865864" MONDO:0006336 "An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance." "EFO:1000417 NCIT:C40061" -MONDO:0013114 "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32." "OMIM:613074 ICD10:H90.3 DOID:0110576" +MONDO:0013114 "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32." "OMIM:613074 DOID:0110576" MONDO:0032938 "OMIM:618824" MONDO:0013643 "UMLS:C3280216 OMIM:614227" GO:0010559 "Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide." @@ -10596,21 +10592,22 @@ CHEBI:33913 "A derivative of the corrin nucleus, which contains four reduced or http://identifiers.org/hgnc/17342 HP:0025270 "Any physiological abnormality of the esophagus." GO:0001807 "Any process that modulates the frequency, rate, or extent of type IV hypersensitivity, a type of inflammatory response." -MONDO:0010537 "Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." "ICD10:Q87.8 DOID:0050681 SCTID:21634003 ICD9:759.89 UMLS:C0265339 MESH:C536575 Orphanet:127 OMIM:301900 GARD:0000936" +MONDO:0010537 "Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." "DOID:0050681 SCTID:21634003 ICD9:759.89 ICD10CM:Q87.8 UMLS:C0265339 MESH:C536575 Orphanet:127 OMIM:301900 GARD:0000936" http://identifiers.org/hgnc/12449 -MONDO:0015173 "Orphanet:103916 ICD10:K52.8 UMLS:CN226616" +MONDO:0015173 "ICD10CM:K52.8 Orphanet:103916 UMLS:CN226616" MONDO:0004283 "A vulvar sweat gland carcinoma characterized by the presence of clear cells." "NCIT:C40307 DOID:7567 UMLS:C1520076" -MONDO:0011391 "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." "OMIM:613926 DOID:0080315 ICD10:E75.2 SCTID:703536004 UMLS:CN176898 MESH:C536141 OMIM:613925 GARD:0003445 Orphanet:2478 OMIM:604004" +MONDO:0011391 "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions." "ICD10CM:E75.2 OMIM:613926 DOID:0080315 SCTID:703536004 UMLS:CN176898 MESH:C536141 OMIM:613925 GARD:0003445 Orphanet:2478 OMIM:604004" http://www.w3.org/2002/07/owl#Nothing MONDO:0001133 "Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure." "UMLS:C0024588 ICD9:401.0 NCIT:C34802 DOID:10823 SCTID:78975002" MONDO:0027772 "A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells." "DOID:0080304 UMLS:C1708776 NCIT:C45512 DOID:0080303" MONDO:0010946 "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene." "DOID:0110312 OMIM:600858 MESH:C563436 UMLS:C1833236" MONDO:0002988 "An aggressive malignant tumor of melanocytic origin that arises from the cervix." "NCIT:C40239 DOID:4413 GARD:0009664 UMLS:C0877611" -MONDO:0012062 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." "UMLS:C1837839 ICD10:I42.0 MESH:C563906 DOID:0110451 OMIM:608569" +MONDO:0012062 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." "UMLS:C1837839 MESH:C563906 DOID:0110451 OMIM:608569 ICD10CM:I42.0" MONDO:0100223 "OMIMPS:252010" -MONDO:0003778 "A disorder in which the immune system is unable to mount an adequate immune response." "SCTID:234532001 SCTID:58606001 Orphanet:101997 ICD9:279.3 NCIT:C3131 ICD10:D84.9 MESH:D007153 KEGG:05340 UMLS:C0021051 NCIT:C39725 OMIM:242850 UMLS:C0398686 DOID:612" +MONDO:0003778 "A disorder in which the immune system is unable to mount an adequate immune response." "SCTID:234532001 SCTID:58606001 Orphanet:101997 ICD9:279.3 NCIT:C3131 MESH:D007153 KEGG:05340 UMLS:C0021051 NCIT:C39725 OMIM:242850 UMLS:C0398686 DOID:612" MONDO:0011247 "MESH:C537567 UMLS:C1865209 GARD:0009985 OMIM:602551" -MONDO:0012738 "Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene." "Orphanet:101016 OMIM:611820 MESH:C567513 GARD:0010437 Orphanet:768 ICD10:I45.8 UMLS:C2678483 DOID:0110652" +MONDO:0012738 "Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene." "Orphanet:101016 OMIM:611820 MESH:C567513 GARD:0010437 Orphanet:768 UMLS:C2678483 DOID:0110652" +MONDO:0100489 "OMIM:275000" http://identifiers.org/hgnc/6139 MONDO:0032937 "OMIM:618823" MONDO:0022575 "A syndromic disease characterised by a small ductal system and reduction in the number of interlobular bile ducts." "GARD:0008383" @@ -10619,55 +10616,55 @@ MONDO:0015289 "Infectious epithelial keratitis is a rare, potentially sight-thre MONDO:0014254 "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene." "Orphanet:2792 UMLS:C3714942 OMIM:615560" MONDO:0012446 "UMLS:C1853258 MESH:C565217 Orphanet:168606 OMIM:610227" NCBITaxon:12092 "GC_ID:1" -MONDO:0009162 "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects." "MedDRA:10008724 NCIT:C84684 MESH:D004613 ICD9:756.55 Orphanet:289 OMIM:225500 SCTID:62501005 UMLS:C0013903 GARD:0001301 ICD10:Q77.6 UMLS:CN239258 DOID:12714 OMIM:617088" +MONDO:0009162 "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects." "MedDRA:10008724 NCIT:C84684 ICD10CM:Q77.6 MESH:D004613 ICD9:756.55 Orphanet:289 OMIM:225500 SCTID:62501005 UMLS:C0013903 GARD:0001301 UMLS:CN239258 DOID:12714 OMIM:617088" CL:0000805 "A thymocyte that has the phenotype CD4-negative, CD8-positive, CD44-negative, CD25-negative, and pre-TCR-positive." CL:0007004 "Cell that is part of the neural crest region of the neuroepithelium, prior to migration. Note that not all premigratory neural crest cells may become migratory neural crest cells." -MONDO:0018468 "Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy." "Orphanet:411696 ICD10:K20" +MONDO:0018468 "Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy." "ICD10CM:K20 Orphanet:411696" MONDO:0016119 GO:0010976 "Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites)." -MONDO:0008670 "Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." "Orphanet:894 NCIT:C75008 GARD:0005519 DOID:0110948 ICD10:E70.3 UMLS:C1847800 Orphanet:3440 OMIM:193500" +MONDO:0008670 "Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." "Orphanet:894 NCIT:C75008 ICD10CM:E70.3 GARD:0005519 DOID:0110948 UMLS:C1847800 Orphanet:3440 OMIM:193500" MONDO:0032932 "OMIM:618811" -MONDO:0100224 "Orphanet:2609 ICD10:G71.3 OMIM:252010 GARD:0003908 UMLS:C1838979 DOID:0060536 MESH:C537475 UMLS:C2936907" +MONDO:0100224 "Orphanet:2609 OMIM:252010 GARD:0003908 ICD10CM:G71.3 UMLS:C1838979 DOID:0060536 MESH:C537475 UMLS:C2936907" MONDO:0006302 "An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." "NCIT:C6882 EFO:1000377" ECTO:3000001 "A history of exposure to Viruses." UBERON:0004347 -MONDO:0012717 "Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene." "UMLS:C2673648 OMIM:611718 Orphanet:34527 MESH:C567127 ICD10:E83.4 DOID:0060882" +MONDO:0012717 "Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene." "UMLS:C2673648 OMIM:611718 Orphanet:34527 MESH:C567127 DOID:0060882" MONDO:0000201 MONDO:0019711 "Orphanet:93454" MONDO:0032931 "OMIM:618810" UBERON:0006742 http://identifiers.org/hgnc/1245 MONDO:0003185 "An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." "NCIT:C5130 UMLS:C1332167 ONCOTREE:ACBC DOID:4877 EFO:1000071" -MONDO:0015129 "A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones." "DOID:13774 ICD10:E27.1 UMLS:C0271737 Orphanet:101959 NCIT:C113814 SCTID:373662000 NCIT:C26689 GARD:0005740 MedDRA:10001130 OMIM:103230 OMIM:240200 Orphanet:85138 ICD9:255.41" +MONDO:0015129 "A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones." "DOID:13774 UMLS:C0271737 Orphanet:101959 NCIT:C113814 SCTID:373662000 NCIT:C26689 ICD10CM:E27.1 GARD:0005740 MedDRA:10001130 OMIM:103230 OMIM:240200 Orphanet:85138 ICD9:255.41" UBERON:0035639 MONDO:0004026 "A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction." "UMLS:C0037293 SCTID:201091002 DOID:6873 NCIT:C3374" HP:0012532 "Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months." "UMLS:C0150055 MSH:D059350 SNOMEDCT_US:82423001" MONDO:0018898 "Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities." "Orphanet:542 UMLS:C1302772 NCIT:C7162 MedDRA:10051708 SCTID:400001003" MONDO:0012187 "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein." "UMLS:C1836860 DOID:0111097 NCIT:C129027 MESH:C563801 OMIM:609054" -MONDO:0001664 "ICD10:D25.0 ICD9:218.0 UMLS:C0153993 DOID:13222 SCTID:95279007" +MONDO:0001664 "ICD9:218.0 UMLS:C0153993 DOID:13222 ICD10CM:D25.0 SCTID:95279007" http://identifiers.org/hgnc/28358 MONDO:0060629 "UMLS:CN737161 OMIM:617820" MONDO:0013380 "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene." "Orphanet:500 OMIM:613707 DOID:0080550 UMLS:C3150971" -MONDO:0016118 "Orphanet:206959 ICD10:E74.0" -MONDO:0010164 "Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder." "MESH:C535612 GARD:0005124 ICD10:Q87.2 OMIM:276820 Orphanet:2879 GARD:0009212 SCTID:715522000" +MONDO:0016118 "Orphanet:206959 ICD10CM:E74.0" +MONDO:0010164 "Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder." "MESH:C535612 ICD10CM:Q87.2 GARD:0005124 OMIM:276820 Orphanet:2879 GARD:0009212 SCTID:715522000" MONDO:0016298 "Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed." "SCTID:764097002 Orphanet:216452" MONDO:0030538 "OMIM:619724" -MONDO:0009846 "Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." "GARD:0000418 DOID:0111258 UMLS:C0268162 MedDRA:10064170 Orphanet:2843 ICD9:271.8 ICD10:E74.8 OMIM:260800 MESH:C536652 SCTID:190764000" +MONDO:0009846 "Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day." "GARD:0000418 DOID:0111258 UMLS:C0268162 MedDRA:10064170 Orphanet:2843 ICD9:271.8 OMIM:260800 MESH:C536652 SCTID:190764000 ICD10CM:E74.8" GO:0060759 "Any process that modulates the rate, frequency, or extent of a response to cytokine stimulus." MONDO:0032930 "OMIM:618808" PATO:0010006 "A quality of a single cell inhering in the bearer by virtue of the bearer's size or shape or structure." http://identifiers.org/hgnc/12440 -MONDO:0001979 "A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss." "SCTID:80193009 DOID:14495 ICD10:K91.1 EFO:1001307 UMLS:C0013288 NCIT:C2994 MESH:D004377" +MONDO:0001979 "A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss." "SCTID:80193009 DOID:14495 EFO:1001307 UMLS:C0013288 NCIT:C2994 MESH:D004377" CL:0000439 "A peptide hormone cell that secretes prolactin." MONDO:0019710 "Orphanet:93453" UBERON:0004348 GO:0071830 "The process in which a triglyceride-rich lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded." -MONDO:0018961 "Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family." "ICD10:C43.5 GARD:0003460 Orphanet:618 OMIM:615134 OMIM:613099 NCIT:C8498 DOID:6846 ICD10:C43.2 UMLS:C2314896 OMIM:155600 ICD10:C43.0 OMIM:613972 ICD10:C43.6 OMIM:609048 OMIM:608035 OMIM:615848 ICD10:C43.3 ICD10:C43.4 OMIM:155700 OMIM:155601 ICD10:C43.1 ICD10:C43.7 ICD10:C43.8" +MONDO:0018961 "Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family." "ICD10CM:C43.3 GARD:0003460 ICD10CM:C43.4 Orphanet:618 OMIM:615134 OMIM:613099 NCIT:C8498 DOID:6846 ICD10CM:C43.6 ICD10CM:C43.8 UMLS:C2314896 OMIM:155600 ICD10CM:C43.0 OMIM:613972 ICD10CM:C43.5 OMIM:609048 OMIM:608035 OMIM:615848 ICD10CM:C43.1 ICD10CM:C43.2 ICD10CM:C43.7 OMIM:155700 OMIM:155601" GO:0032105 "Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an extracellular stimulus." GO:0042368 "The chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3)." MONDO:0004485 "Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present." "NCIT:C35786 DOID:817 SCTID:37925008 UMLS:C0027060" -MONDO:0001663 "ICD10:H35.34 SCTID:1079004 DOID:13214 ICD9:362.54 UMLS:C1261331" -MONDO:0002003 "Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor." "ICD10:H47.10 DOID:146 NCIT:C3307 GARD:0007318 SCTID:423341008 ICD10:H46.0 ICD10:H47.1 ICD9:377.0 ICD9:377.31 ICD9:377.00" +MONDO:0001663 "SCTID:1079004 DOID:13214 ICD9:362.54 UMLS:C1261331" +MONDO:0002003 "Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor." "DOID:146 NCIT:C3307 GARD:0007318 SCTID:423341008 ICD9:377.0 ICD9:377.31 ICD9:377.00" MONDO:0016117 "Orphanet:206953 SCTID:240095001 ICD9:359.89 UMLS:C0410214" MONDO:0032934 "OMIM:618820" CHEBI:46787 "A liquid that can dissolve other substances (solutes) without any change in their chemical composition." @@ -10675,25 +10672,25 @@ MONDO:0018778 "UMLS:CN776860 DOID:0050543 Orphanet:476123" GO:0060562 "The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system." MONDO:0030535 "OMIM:619599" GO:0032781 "Any process that activates or increases the rate of ATP hydrolysis by an ATPase." -MONDO:0015347 "Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis." "Orphanet:139436 SCTID:84241008 GARD:0007103 ICD9:272.8 UMLS:C0311284 ICD10:E78.81 NCIT:C27896 ICD10:D76.3 MedDRA:10070595 ICD9:713.0 DOID:11824" -MONDO:0007417 "Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies." "DOID:2734 NCIT:C84665 SCTID:48611009 ICD10:Q82.8 ICD10:E50.8 ICD9:757.39 MedDRA:10023369 OMIM:124200 UMLS:C0022595 GARD:0006243 Orphanet:218 Wikipedia:Darier%27s_disease" +MONDO:0015347 "Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis." "Orphanet:139436 SCTID:84241008 ICD10CM:D76.3 GARD:0007103 ICD9:272.8 NCIT:C27896 UMLS:C0311284 MedDRA:10070595 ICD9:713.0 DOID:11824" +MONDO:0007417 "Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies." "DOID:2734 NCIT:C84665 SCTID:48611009 ICD10CM:Q82.8 ICD9:757.39 MedDRA:10023369 OMIM:124200 UMLS:C0022595 GARD:0006243 Orphanet:218 Wikipedia:Darier%27s_disease" http://identifiers.org/hgnc/1247 HP:0002344 "UMLS:C1854838" http://identifiers.org/hgnc/3642 CHEBI:32773 "An optically active form of tyrosinate(1-) having D-configuration." -MONDO:0012411 "Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene." "DOID:0090069 OMIM:610100 Orphanet:401964 UMLS:CN226146 ICD10:G60.0 UMLS:C1864695 GARD:0012447" +MONDO:0012411 "Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene." "DOID:0090069 OMIM:610100 Orphanet:401964 UMLS:CN226146 UMLS:C1864695 ICD10CM:G60.0 GARD:0012447" GO:0048242 "The regulated release of epinephrine by a cell. Epinephrine is a catecholamine hormone secreted by the adrenal medulla and a neurotransmitter, released by certain neurons and active in the central nervous system." -MONDO:0014311 "Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene." "DOID:0080057 UMLS:C3810326 OMIM:615705 ICD10:G11.1 Orphanet:404499" -MONDO:0019713 "ICD10:Q71.5 ICD10:Q72.9 ICD10:Q73.8 ICD10:Q72.8 ICD10:Q73.1 ICD10:Q72.2 Orphanet:93457 ICD10:Q71.9 ICD10:Q71.4 ICD10:Q72.7 ICD10:Q71.3 ICD10:Q73.0 ICD10:Q72.6 ICD10:Q72.1 ICD10:Q71.8 ICD10:Q72.0 ICD10:Q71.2 ICD10:Q71.1 ICD10:Q72.5 ICD10:Q72.4 ICD10:Q71.0 ICD10:Q71.6 ICD10:Q72.3" +MONDO:0014311 "Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene." "DOID:0080057 UMLS:C3810326 ICD10CM:G11.1 OMIM:615705 Orphanet:404499" +MONDO:0019713 "ICD10CM:Q72.1 ICD10CM:Q72.2 ICD10CM:Q72.9 Orphanet:93457 ICD10CM:Q71.4 ICD10CM:Q71.5 ICD10CM:Q72.5 ICD10CM:Q72.6 ICD10CM:Q72.0 ICD10CM:Q72.7 ICD10CM:Q72.8 ICD10CM:Q71.8 ICD10CM:Q71.9 ICD10CM:Q71.2 ICD10CM:Q71.3 ICD10CM:Q72.3 ICD10CM:Q72.4 ICD10CM:Q71.0 ICD10CM:Q71.1 ICD10CM:Q71.6 ICD10CM:Q73.0 ICD10CM:Q73.1 ICD10CM:Q73.8" MONDO:0004567 "Decrease in peristalsis in the absence of a mechanical bowel obstruction." "SCTID:710572000 UMLS:C1258215 NCIT:C37979 SCTID:81060008 DOID:8440 MESH:D045823" GO:0090357 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid." GO:0051129 "Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope." MONDO:0001662 "HP:0011712 DOID:13209 ICD9:426.4 SCTID:59118001 ICD9:426.51" -MONDO:0015712 "Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism." "ICD10:Q92.3 Orphanet:1695" +MONDO:0015712 "Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism." "Orphanet:1695" GO:0010985 "Any process that decreases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded." -MONDO:0004768 "Inflammation of both the cornea and the conjunctiva." "SCTID:88151007 MESH:D007637 ICD10:H16.20 ICD9:370.49 HP:0001096 ICD9:370.8 UMLS:C0022573 DOID:9368 NCIT:C34744 ICD10:H16.2 ICD9:370.40" -MONDO:0016116 "Orphanet:206710 ICD10:G12.2" -MONDO:0010014 "Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted." "OMIM:269300 SCTID:278833002 ICD10:Q78.8 Orphanet:85184" +MONDO:0004768 "Inflammation of both the cornea and the conjunctiva." "SCTID:88151007 MESH:D007637 ICD9:370.49 HP:0001096 ICD9:370.8 ICD10CM:H16.2 UMLS:C0022573 DOID:9368 NCIT:C34744 ICD9:370.40" +MONDO:0016116 "Orphanet:206710 ICD10CM:G12.2" +MONDO:0010014 "Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted." "OMIM:269300 SCTID:278833002 ICD10CM:Q78.8 Orphanet:85184" MONDO:0024657 "DOID:3203" MONDO:0018779 "UMLS:CN776841 Orphanet:476403" MONDO:0032933 "OMIM:618815" @@ -10704,12 +10701,12 @@ MONDO:0019712 "Orphanet:93455" GO:0030858 "Any process that activates or increases the frequency, rate or extent of epithelial cell differentiation." HP:0100603 "Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia." "MSH:D011225 SNOMEDCT_US:398254007 SNOMEDCT_US:15394000 UMLS:C0032914" CHEBI:32594 -MONDO:0017196 "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents." "UMLS:CN202641 GARD:0000587 Orphanet:2773 ICD10:Q87.8 MESH:C535617 SCTID:722110003" +MONDO:0017196 "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents." "UMLS:CN202641 GARD:0000587 Orphanet:2773 ICD10CM:Q87.8 MESH:C535617 SCTID:722110003" CL:0002308 "An epithelial cell of a skin gland." "FMA:70657" -MONDO:0015061 "Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS." "UMLS:C0751549 Orphanet:100073 ICD10:G54.0 SCTID:2040007" +MONDO:0015061 "Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS." "UMLS:C0751549 Orphanet:100073 ICD10CM:G54.0 SCTID:2040007" GO:0010720 "Any process that increases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate." NCBITaxon:4751 "PMID:11062127 PMID:12684019 GC_ID:1" -MONDO:0011927 "Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood." "Orphanet:1063 NCIT:C4487 ICDO:9161/0 SCTID:705155008 GARD:0000425 ICD10:D18.0 OMIM:607859 MESH:C536924 UMLS:C0346073 ICD9:215.9 HP:0012329" +MONDO:0011927 "Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood." "Orphanet:1063 NCIT:C4487 ICDO:9161/0 SCTID:705155008 GARD:0000425 OMIM:607859 MESH:C536924 ICD10CM:D18.0 UMLS:C0346073 ICD9:215.9 HP:0012329" MONDO:0018776 "Orphanet:476116" GO:2000258 "Any process that stops, prevents or reduces the frequency, rate or extent of protein activation cascade." MONDO:0006781 "Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease." "MESH:D016481 EFO:1000961" @@ -10720,9 +10717,9 @@ GO:0006006 "The chemical reactions and pathways involving glucose, the aldohexos MONDO:0017578 "UMLS:CN227150 Orphanet:298644" MONDO:0000266 "A aspergillosis that involves the lung." "MESH:D055732 DOID:0050153 UMLS:C2350529" MONDO:0004537 "A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma." "UMLS:C1516422 NCIT:C40203 DOID:8339 ONCOTREE:ICEMU" -MONDO:0005655 "Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea." "DOID:3108 EFO:0007155 UMLS:C0003952 SCTID:76160002 SCTID:2435008 MESH:D001198 ICD10:B77" +MONDO:0005655 "Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea." "DOID:3108 EFO:0007155 UMLS:C0003952 SCTID:76160002 SCTID:2435008 MESH:D001198 ICD10CM:B77" CL:0002005 "A megakaryocyte erythroid progenitor cell is CD34-positive, CD38-positive and is IL3-receptor alpha-negative and CD45RA-negative." -MONDO:0005822 "A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease." "ICD10:A53.0 MESH:D013592 SCTID:444150000 UMLS:C0039133 ICD9:097.1 NCIT:C35056 EFO:0007340 DOID:9531" +MONDO:0005822 "A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease." "MESH:D013592 SCTID:444150000 ICD9:097.1 UMLS:C0039133 NCIT:C35056 EFO:0007340 DOID:9531" GO:0048193 "The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles." PATO:0001580 "A contractility which is relatively high." UBERON:0001849 @@ -10734,9 +10731,9 @@ GO:0055007 "The process in which a cardiac muscle precursor cell acquires specia HP:0030850 "An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure." "UMLS:C0855322" NCBITaxon:110618 "GC_ID:1" GO:0030224 "The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte." -MONDO:0019972 "Orphanet:97339 ICD10:Q28.3" +MONDO:0019972 "Orphanet:97339 ICD10CM:Q28.3" http://identifiers.org/hgnc/1248 -MONDO:0020504 "Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." "OMIM:268200 SCTID:716721003 OMIM:550500 Orphanet:99845 ICD10:R82.1" +MONDO:0020504 "Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." "OMIM:268200 ICD10CM:R82.1 SCTID:716721003 OMIM:550500 Orphanet:99845" MONDO:0017313 "UMLS:CN227114 Orphanet:285657" MONDO:0030533 "OMIM:619717" GO:0070482 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen." @@ -10744,14 +10741,14 @@ NCBITaxon:4753 "GC_ID:1" http://identifiers.org/hgnc/19714 MONDO:0022551 "A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor." "GARD:0008177" GO:0010677 "Any process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells." -MONDO:0019814 "Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation." "Orphanet:95461 ICD10:Q22.8" +MONDO:0019814 "Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation." "ICD10CM:Q22.8 Orphanet:95461" MONDO:0000461 "DOID:0050810 SCTID:49607006 MESH:C531633" GO:0019221 "A series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription." MONDO:0010430 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene." "UMLS:C2749020 MESH:C567583 OMIM:300803" -MONDO:0018137 "Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." "UMLS:C1847132 Orphanet:352737 ICD10:E70.3 OMIM:606952" +MONDO:0018137 "Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." "ICD10CM:E70.3 UMLS:C1847132 Orphanet:352737 OMIM:606952" http://identifiers.org/hgnc/11244 MONDO:0002926 "A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases." "DOID:4233 EFO:0008498 ICD9:171.9 ICDO:9044/3 SCTID:402561003 NCIT:C3745 UMLS:C0206651 ONCOTREE:CCS MESH:D018227" -MONDO:0016113 "Orphanet:206701 SCTID:230253001 ICD10:G12.2" +MONDO:0016113 "ICD10CM:G12.2 Orphanet:206701 SCTID:230253001" GO:1990625 "Any process that stops, prevents or reduces the rate of cytoplasmic translation initiation as a result of a stimulus indicating the organism is under stress." ENVO:00000070 "A construction that has been assembled by deliberate human effort." http://identifiers.org/hgnc/29557 @@ -10765,7 +10762,7 @@ GO:0002821 "Any process that activates or increases the frequency, rate, or exte MONDO:0024877 "A neoplasm involving a clitoris." "ICD9:239.5 UMLS:C1263793 SCTID:126925009" MONDO:0006158 "A diffuse large B-cell lymphoma that arises from the colon or rectum." "UMLS:C3272827 EFO:1000191 NCIT:C96503" MONDO:0014911 "A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss." "Orphanet:541423 EFO:0009155 UMLS:C4310720 OMIM:617093" -MONDO:0060627 "UMLS:C4540520 OMIM:617810 Orphanet:529665" +MONDO:0060627 "OMIM:617810 UMLS:C4540520 Orphanet:529665" http://identifiers.org/hgnc/4845 NCBITaxon:44556 "GC_ID:1" ENVO:09200000 "The temperature of some environmental material." @@ -10773,23 +10770,23 @@ MONDO:0018775 "Orphanet:476109" MONDO:0024919 "Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used." "UMLS:C0012979 MESH:D004283" GO:1903335 "Any process that modulates the frequency, rate or extent of vacuolar transport." NCBITaxon:160 "GC_ID:11" -MONDO:0016048 "Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." "SCTID:722008003 Orphanet:199326 ICD10:E83.4 UMLS:CN200728" -MONDO:0016112 "Orphanet:206662 GARD:0001658 ICD10:G71.8" -MONDO:0019172 "Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia)." "DOID:12271 Orphanet:77 ICD10:Q13.1 NCIT:C84563 UMLS:C0003076 ICD9:743.45 OMIM:106210 MedDRA:10002532 MESH:D015783 SCTID:69278003 GARD:0005816" +MONDO:0016048 "Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." "SCTID:722008003 Orphanet:199326 ICD10CM:E83.4 UMLS:CN200728" +MONDO:0016112 "Orphanet:206662 GARD:0001658 ICD10CM:G71.8" +MONDO:0019172 "Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia)." "DOID:12271 Orphanet:77 NCIT:C84563 UMLS:C0003076 ICD9:743.45 OMIM:106210 ICD10CM:Q13.1 MedDRA:10002532 MESH:D015783 SCTID:69278003 GARD:0005816" UBERON:0004346 http://identifiers.org/hgnc/3647 MONDO:0003992 "A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma." "DOID:6786 UMLS:C1332944 NCIT:C35574" -MONDO:0017311 "ICD10:I71.1 UMLS:CN202889 ICD10:I71.2 Orphanet:285014" +MONDO:0017311 "ICD10CM:I71.1 ICD10CM:I71.2 UMLS:CN202889 Orphanet:285014" MONDO:0019974 -MONDO:0016094 "A malignant germ cell tumor that involves the vagina." "ICD10:C52 Orphanet:206489 UMLS:CN200860" +MONDO:0016094 "A malignant germ cell tumor that involves the vagina." "ICD10CM:C52 Orphanet:206489 UMLS:CN200860" MONDO:0030531 "OMIM:619712" http://identifiers.org/hgnc/12442 ECTO:9000364 "An exposure to tetracycline." GO:0051130 "Any process that activates or increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope." -MONDO:0009512 "Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out." "OMIM:245650 ICD10:Q74.8 MESH:C537872 UMLS:C4304741 SCTID:719409004 GARD:0003181 Orphanet:2371 UMLS:C1855535" +MONDO:0009512 "Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out." "OMIM:245650 MESH:C537872 ICD10CM:Q74.8 UMLS:C4304741 SCTID:719409004 GARD:0003181 Orphanet:2371 UMLS:C1855535" MONDO:0003359 "A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma." "UMLS:C0205816 MESH:D007890 DOID:5268 ICDO:8896/3 NCIT:C3701" UBERON:0010428 -MONDO:0016975 "A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." "EFO:1000582 Orphanet:263324 ICDO:8582/1 ICD10:C37 UMLS:C1266092 ICD10:D15.0 DOID:3280 NCIT:C6885" +MONDO:0016975 "A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years." "EFO:1000582 Orphanet:263324 ICDO:8582/1 ICD10CM:D15.0 UMLS:C1266092 DOID:3280 ICD10CM:C37 NCIT:C6885" UBERON:0003360 HP:0025033 "A structural anomaly of the digestive system." MONDO:0010910 "Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder." "OMIM:600631" @@ -10797,46 +10794,46 @@ MONDO:0005752 "Circumscribed collections of suppurative material occurring in th GO:0006497 "The covalent attachment of lipid groups to an amino acid in a protein." CHR:9606-chr19p1 MONDO:0011659 "UMLS:C1853444 MESH:C565237 OMIM:606325 Orphanet:450" -MONDO:0017518 "Orphanet:295134 ICD10:Q72.8" +MONDO:0017518 "ICD10CM:Q72.8 Orphanet:295134" NCBITaxon:49274 "GC_ID:1" http://identifiers.org/hgnc/10723 MONDO:0041186 "A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities." "SCTID:238926009 UMLS:C0406637" -MONDO:0020362 "Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." "ICD10:Q07.8 UMLS:CN207213 Orphanet:98951" +MONDO:0020362 "Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." "UMLS:CN207213 ICD10CM:Q07.8 Orphanet:98951" MONDO:0019071 "Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant." "OMIM:614928 DOID:0111655 Orphanet:69084 OMIM:614931 OMIM:602032 OMIM:614929" NCIT:C16152 http://identifiers.org/hgnc/11920 MONDO:0060765 "A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp." "NCIT:C3337" HP:0003679 "UMLS:C4025580" -MONDO:0010125 "Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." "MESH:C564769 UMLS:C1848816 OMIM:274205 ICD10:Q87.8 Orphanet:2489" +MONDO:0010125 "Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." "MESH:C564769 UMLS:C1848816 OMIM:274205 ICD10CM:Q87.8 Orphanet:2489" MONDO:0012857 "UMLS:C2676769 Orphanet:79152 MESH:C567356 OMIM:612293" MONDO:0022460 MONDO:0005611 "The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival." "SCTID:255109008 EFO:0006544 UMLS:C0279680 DOID:4006 NCIT:C39851 ONCOTREE:BLCA" MONDO:0004153 "An embryonal carcinoma that arises from the central nervous system and occurs during childhood." "DOID:7231 UMLS:C1377605 NCIT:C6208" GO:0030424 "The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter." http://identifiers.org/hgnc/10989 -MONDO:0011904 "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene." "ICD10:G40.4 Orphanet:140927 OMIM:607745 UMLS:C1843140 MedDRA:10067866 GARD:0001518 Orphanet:306" -MONDO:0018713 "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels." "Orphanet:458763 UMLS:C1304512 ICD10:D18.0 NCIT:C27511 SCTID:403982005 UMLS:CN242097" +MONDO:0011904 "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene." "Orphanet:140927 OMIM:607745 UMLS:C1843140 MedDRA:10067866 GARD:0001518 Orphanet:306 ICD10CM:G40.4" +MONDO:0018713 "An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels." "ICD10CM:D18.0 Orphanet:458763 UMLS:C1304512 NCIT:C27511 SCTID:403982005 UMLS:CN242097" GO:0043123 "Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling." -MONDO:0018717 "Orphanet:458792 ICD10:D18.1" -MONDO:0012556 "DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity." "SCTID:718712005 DOID:0080565 ICD10:E77.8 GARD:0012393 Orphanet:91131 OMIM:610768 MESH:C563666" +MONDO:0018717 "Orphanet:458792 ICD10CM:D18.1" +MONDO:0012556 "DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity." "SCTID:718712005 DOID:0080565 GARD:0012393 Orphanet:91131 ICD10CM:E77.8 OMIM:610768 MESH:C563666" http://identifiers.org/hgnc/20330 NCBITaxon:40411 "GC_ID:1" MONDO:0009208 "MESH:C536387 GARD:0002228 OMIM:227320 UMLS:C2931184" -MONDO:0017519 "ICD10:Q73.8 UMLS:CN203252 Orphanet:295136" +MONDO:0017519 "ICD10CM:Q73.8 UMLS:CN203252 Orphanet:295136" MONDO:0004014 "An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus." "NCIT:C5309 UMLS:C1333475 DOID:6854" -MONDO:0000465 "A heart block that is initiated in the atrioventricular node." "DOID:0050820 HP:0001678 NCIT:C26703 SCTID:233917008 UMLS:C0004245 ICD10:I44.3 ICD10:I44.30 ICD9:426.10 MESH:D054537" -MONDO:0010521 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene." "GARD:0009943 OMIM:301200 Orphanet:100033 DOID:0110058 ICD10:K00.5" -MONDO:0017216 "Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation." "SCTID:717043006 Orphanet:280065 ICD10:E83.5 UMLS:C4274083" +MONDO:0000465 "A heart block that is initiated in the atrioventricular node." "DOID:0050820 HP:0001678 NCIT:C26703 SCTID:233917008 UMLS:C0004245 ICD9:426.10 MESH:D054537" +MONDO:0010521 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene." "GARD:0009943 OMIM:301200 Orphanet:100033 DOID:0110058" +MONDO:0017216 "Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation." "SCTID:717043006 ICD10CM:E83.5 Orphanet:280065 UMLS:C4274083" GO:0005515 "Binding to a protein." -MONDO:0011933 "A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive." "GARD:0009836 Orphanet:79326 OMIM:607906 DOID:0080561 ICD10:E77.8" +MONDO:0011933 "A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive." "GARD:0009836 ICD10CM:E77.8 Orphanet:79326 OMIM:607906 DOID:0080561" MONDO:0042717 "GARD:0000161 UMLS:C2931266 MESH:C536617" CHR:9606-chr20p1 http://identifiers.org/hgnc/13481 UBERON:0001800 -MONDO:0016319 "ICD10:G90.8 Orphanet:217399" +MONDO:0016319 "Orphanet:217399 ICD10CM:G90.8" MONDO:0020068 "ICD9:323.6 MedDRA:10057235 UMLS:C0393459 SCTID:192727001 Orphanet:98253" -MONDO:0012858 "Orphanet:169464 MESH:C567355 OMIM:612300 UMLS:C2676767 ICD10:D84.1" -MONDO:0011490 "Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis" "ICD10:J44.8 ICD9:491.8 OMIM:604809 SCTID:430476004 MedDRA:10062952 GARD:0008526 Orphanet:171700 MESH:C536174 UMLS:C0878555" +MONDO:0012858 "Orphanet:169464 MESH:C567355 OMIM:612300 UMLS:C2676767 ICD10CM:D84.1" +MONDO:0011490 "Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis" "ICD9:491.8 OMIM:604809 SCTID:430476004 MedDRA:10062952 GARD:0008526 Orphanet:171700 MESH:C536174 UMLS:C0878555" UBERON:0016528 MONDO:0044279 "OMIM:613418" GO:0002690 "Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis." @@ -10844,9 +10841,9 @@ MONDO:0003492 "A squamous cell carcinoma that involves the lacrimal gland." "NCI UBERON:0003362 CHEBI:36078 GO:0019230 "The series of events by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception is mediated by proprioceptors, sensory nerve terminals found in muscles, tendons, and joint capsules, which give information concerning movements and position of the body. The receptors in the labyrinth are sometimes also considered proprioceptors." -MONDO:0001322 "A malignant neoplasm involving the pericardium." "SCTID:126734005 NCIT:C4567 DOID:116 ICD10:C38.0 UMLS:C0346609 NCIT:C4651" -MONDO:0017516 "Orphanet:295130 ICD10:Q71.8" -MONDO:0014819 "Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene." "Orphanet:3107 UMLS:C4225164 ICD10:Q87.1 Orphanet:97360 OMIM:616894 DOID:0060767" +MONDO:0001322 "A malignant neoplasm involving the pericardium." "SCTID:126734005 NCIT:C4567 DOID:116 UMLS:C0346609 NCIT:C4651" +MONDO:0017516 "ICD10CM:Q71.8 Orphanet:295130" +MONDO:0014819 "Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene." "Orphanet:3107 UMLS:C4225164 Orphanet:97360 OMIM:616894 DOID:0060767" http://identifiers.org/hgnc/10721 UBERON:0016529 CHEBI:139592 "An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups." @@ -10858,46 +10855,46 @@ MONDO:0009207 "OMIM:227310 UMLS:C1856882 Orphanet:35909" MONDO:0006054 "A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system." "NCIT:C3674 EFO:1000051 UMLS:C0178830" MONDO:0003740 "An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." "UMLS:C0853870 DOID:603 EFO:1001873 NCIT:C35614" MONDO:0003513 "A mature or immature teratoma that arises from the stomach." "UMLS:C1333790 NCIT:C5259 DOID:5561" -MONDO:0007615 "Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested." "SCTID:715440003 OMIM:135750 Orphanet:2378 ICD10:Q87.2 GARD:0000155 MESH:C535689 DOID:0111350" -MONDO:0020108 "Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia." "ICD10:D59.1 UMLS:C0002880 ICD9:283.0 NCIT:C34378 ICD10:D59.0 OMIM:205700 DOID:718 Orphanet:98375 SCTID:413603009 GARD:0005870 EFO:1001264 MedDRA:10002046 MESH:D000744 CSP:0427-1178" -MONDO:0011749 "Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." "UMLS:C1847132 UMLS:C1847024 ICD10:E70.3 OMIM:606952 MESH:C537729 Orphanet:352731 DOID:0070095 Orphanet:79434 Orphanet:352737 GARD:0000594" +MONDO:0007615 "Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested." "SCTID:715440003 ICD10CM:Q87.2 OMIM:135750 Orphanet:2378 GARD:0000155 MESH:C535689 DOID:0111350" +MONDO:0020108 "Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia." "UMLS:C0002880 ICD9:283.0 ICD10CM:D59.0 NCIT:C34378 OMIM:205700 DOID:718 Orphanet:98375 SCTID:413603009 GARD:0005870 EFO:1001264 ICD10CM:D59.1 MedDRA:10002046 MESH:D000744 CSP:0427-1178" +MONDO:0011749 "Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." "UMLS:C1847132 UMLS:C1847024 OMIM:606952 MESH:C537729 Orphanet:352731 ICD10CM:E70.3 DOID:0070095 Orphanet:79434 Orphanet:352737 GARD:0000594" UBERON:0003361 -MONDO:0010771 "Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium." "MESH:C535584 OMIM:212080 NCIT:C45745 UMLS:CN239812 DOID:0080198 ICD10:I42.0 OMIM:500000 Orphanet:137675 UMLS:C1708371 GARD:0009511" -MONDO:0017517 "Orphanet:295132 ICD10:Q72.8" -MONDO:0007808 "Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK)." "ICD9:757.39 UMLS:C1840296 GARD:0002954 OMIM:146590 ICD10:Q80.8 SCTID:254170001 Orphanet:79503 MESH:C536088" -MONDO:0004948 "B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades." "OMIM:609630 OMIM:612559 OMIM:109543 UMLS:C0855095 ICD10:C91.1 ICD9:204.1 Orphanet:67038 OMIM:612558 OMIM:151400 NCIT:C3163 OMIM:612557 ICD10:C91.10 EFO:0000095 GARD:0006104 MedDRA:10008958 UMLS:C0023434 MESH:D015451 DOID:1040" +MONDO:0010771 "Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium." "MESH:C535584 OMIM:212080 NCIT:C45745 UMLS:CN239812 DOID:0080198 OMIM:500000 ICD10CM:I42.0 Orphanet:137675 UMLS:C1708371 GARD:0009511" +MONDO:0017517 "Orphanet:295132 ICD10CM:Q72.8" +MONDO:0007808 "Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK)." "ICD10CM:Q80.8 ICD9:757.39 UMLS:C1840296 GARD:0002954 OMIM:146590 SCTID:254170001 Orphanet:79503 MESH:C536088" +MONDO:0004948 "B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades." "OMIM:609630 OMIM:612559 OMIM:109543 UMLS:C0855095 ICD9:204.1 Orphanet:67038 OMIM:612558 OMIM:151400 ICD10CM:C91.1 NCIT:C3163 OMIM:612557 EFO:0000095 GARD:0006104 MedDRA:10008958 UMLS:C0023434 MESH:D015451 DOID:1040" MONDO:0003115 "A hemangioma arising from the subglottic area." "DOID:472 NCIT:C6026 UMLS:C1336518" -MONDO:0008575 "Physical and psychological dependence on nicotine." "ICD10:F17.2 DOID:0050742 MESH:D014029 SCTID:56294008 ICD10:F17.20 OMIM:188890 ICD10:F17 EFO:0003768 NCIT:C54203 ICD9:305.1" +MONDO:0008575 "Physical and psychological dependence on nicotine." "DOID:0050742 MESH:D014029 SCTID:56294008 OMIM:188890 ICD10CM:F17 EFO:0003768 NCIT:C54203 ICD9:305.1" HP:0002721 "Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance." "UMLS:C0021051 MSH:D007153 SNOMEDCT_US:234532001" MONDO:0011024 "Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone." "UMLS:C1832586 OMIM:601230 Orphanet:1656 GARD:0001917 UMLS:C0011608 MESH:C538218" MONDO:0003682 "A non-disseminated skeletal or extraskeletal chondrosarcoma." "DOID:5862 NCIT:C8778 UMLS:C0855011" -MONDO:0024467 "A disease that involves the apocrine sweat gland." "ICD10:L75" +MONDO:0024467 "A disease that involves the apocrine sweat gland." "ICD10CM:L75" http://identifiers.org/hgnc/13487 HP:0011122 "Any abnormality of the physiological function of the skin." "UMLS:C4023527" UBERON:0016526 -MONDO:0018978 "MedDRA:10027074 ICD10:J98.5 MESH:C536136 Orphanet:63999 GARD:0008337" +MONDO:0018978 "MedDRA:10027074 MESH:C536136 Orphanet:63999 ICD10CM:J98.5 GARD:0008337" MONDO:0044277 "OMIM:612671" http://identifiers.org/hgnc/13221 MONDO:0012659 "Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene." "DOID:0110021 OMIM:611378 UMLS:C1969651 MESH:C566958" -MONDO:0020062 "ICD10:Q99.8 Orphanet:98159" +MONDO:0020062 "Orphanet:98159 ICD10CM:Q99.8" CL:0002606 "An astrocyte of the spinal cord." MONDO:0041775 "UMLS:C1688637 SCTID:418801006" MONDO:0009523 "Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive." "OMIM:246550 MESH:C535894 UMLS:C1855502 Orphanet:2390 SCTID:763668009 GARD:0003248" MONDO:0043465 "Absence of hydrochloric acid in the gastric juice." "SCTID:47481007 MESH:D000126 NCIT:C2850" HP:0100543 "Abnormal cognition with deficits in thinking, reasoning, or remembering." "UMLS:C0338656 UMLS:C0683322 MSH:D060825 SNOMEDCT_US:386806002" -MONDO:0010888 "The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia." "ICD10:N80.0 SCTID:237115002 GARD:0008156 ICD9:617.0 UMLS:C0341858 OMIM:600458 MESH:D062788 NCIT:C6996 DOID:288 EFO:1001757" +MONDO:0010888 "The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia." "SCTID:237115002 GARD:0008156 ICD9:617.0 UMLS:C0341858 OMIM:600458 MESH:D062788 NCIT:C6996 DOID:288 ICD10CM:N80.0 EFO:1001757" MONDO:0015119 "UMLS:CN197476 Orphanet:101945" MONDO:0043079 "GARD:0000518 SCTID:81077008" ENVO:03000036 "A material accumulation process during which solid particles are pulled through a water body by gravitation or centrifugal force and which ends when they settle on a solid surface." GO:0051100 "Any process that stops or reduces the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule." -MONDO:0007473 "Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." "Orphanet:233 MedDRA:10013799 ICD9:378.71 OMIMPS:126800 OMIM:616219 NCIT:C84678 OMIM:126800 GARD:0006288 SCTID:60318001 UMLS:C0013261 DOID:12557 OMIM:604356 OMIM:617041 MESH:D004370 ICD10:H50.8 ICD10:H50.81" +MONDO:0007473 "Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." "Orphanet:233 MedDRA:10013799 ICD9:378.71 OMIMPS:126800 OMIM:616219 NCIT:C84678 OMIM:126800 GARD:0006288 SCTID:60318001 UMLS:C0013261 DOID:12557 OMIM:604356 OMIM:617041 MESH:D004370 ICD10CM:H50.8" GO:0022601 "The progression of physiological phases, occurring in the endometrium during the menstrual cycle that recur at regular intervals during the reproductive years. The menstrual cycle is an ovulation cycle where the endometrium is shed if pregnancy does not occur." MONDO:0013653 "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene." "UMLS:C3280271 OMIM:614251 Orphanet:411602" -MONDO:0017514 "Orphanet:295126 ICD10:Q72.73 ICD10:Q72.7" +MONDO:0017514 "ICD10CM:Q72.73 Orphanet:295126 ICD10CM:Q72.7" ECTO:0001571 "An exposure to mercury molecular entity." MONDO:0023662 "OMIM:619369" http://identifiers.org/hgnc/11926 -MONDO:0005178 "A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity." "OMIM:612400 ICD10:M19 OMIM:612401 ICD9:715.3 GARD:0011929 OMIM:140600 SCTID:396275006 OMIM:165720 NCIT:C3293 HP:0002758 UMLS:C0029408 OMIM:607850 OMIM:610839 MESH:D010003 EFO:0002506 DOID:8398" +MONDO:0005178 "A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity." "OMIM:612400 ICD10CM:M15-M19 OMIM:612401 ICD9:715.3 GARD:0011929 OMIM:140600 SCTID:396275006 OMIM:165720 NCIT:C3293 HP:0002758 UMLS:C0029408 OMIM:607850 OMIM:610839 MESH:D010003 EFO:0002506 ICD10CM:M19 DOID:8398" CHEBI:2571 "An alcohol derived from an aliphatic compound." CHEBI:62215 "A class of secondary metabolites developed by many plants to influence the behaviour, growth or survival of herbivores, and thus acting as a defence against herbivory." MONDO:0044276 "OMIM:612271" @@ -10910,15 +10907,15 @@ MONDO:0022464 "GARD:0000718" http://identifiers.org/hgnc/10727 MONDO:0020063 "UMLS:CN206967 Orphanet:98196" MONDO:0024861 "NCIT:C9010" -MONDO:0011423 "Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed." "SCTID:718850008 DOID:0110279 Orphanet:119 GARD:0003851 ICD10:G71.0 UMLS:C2930900 OMIM:604286 GARD:0000870" -MONDO:0014157 "GARD:0010989 OMIM:615381 ICD10:E34.8 UMLS:C3715192 Orphanet:363649" +MONDO:0011423 "Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed." "SCTID:718850008 DOID:0110279 Orphanet:119 GARD:0003851 ICD10CM:G71.0 UMLS:C2930900 OMIM:604286 GARD:0000870" +MONDO:0014157 "ICD10CM:E34.8 GARD:0010989 OMIM:615381 UMLS:C3715192 Orphanet:363649" GO:0070874 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving glycogen." CL:1000333 "A serous secreting cell that is part of the epithelium of bronchiole." "FMA:263084" MONDO:0021258 "A neoplasm (disease) that involves the optic choroid." "NCIT:C2949" -MONDO:0017515 "Orphanet:295128 ICD10:Q71.8" +MONDO:0017515 "ICD10CM:Q71.8 Orphanet:295128" MONDO:0015118 "Orphanet:101944" UBERON:0015329 -MONDO:0015791 "Precocious puberty caused by sex hormones." "SCTID:736606009 Orphanet:178040 ICD10:E30.1" +MONDO:0015791 "Precocious puberty caused by sex hormones." "SCTID:736606009 ICD10CM:E30.1 Orphanet:178040" MONDO:0100432 "Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome." MONDO:0024417 "Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body." "MESH:D010468" MONDO:0023663 "MESH:C537716 UMLS:C1867610 GARD:0000170 OMIM:176920" @@ -10931,22 +10928,22 @@ http://identifiers.org/hgnc/37212 MONDO:0018710 "Orphanet:457359 OMIM:617011" MONDO:0022463 MONDO:0044275 "OMIM:609338" -MONDO:0016557 "Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present." "GARD:0009759 Orphanet:2387 SCTID:763792009 ICD10:Q84.4 MESH:C535889 OMIM:151600" +MONDO:0016557 "Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present." "GARD:0009759 Orphanet:2387 SCTID:763792009 ICD10CM:Q84.4 MESH:C535889 OMIM:151600" MONDO:0043077 "UMLS:C2931289 GARD:0000392 MESH:C536688" MONDO:0023660 "OMIM:619363" -MONDO:0007495 "Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." "OMIM:128230 UMLS:CN207122 SCTID:715768000 ICD10:G24.1 UMLS:C1851920 Orphanet:98808 GARD:0012144 DOID:0090043" +MONDO:0007495 "Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." "OMIM:128230 UMLS:CN207122 SCTID:715768000 UMLS:C1851920 ICD10CM:G24.1 Orphanet:98808 GARD:0012144 DOID:0090043" GO:0097708 "Any vesicle that is part of the intracellular region." NCIT:C16150 HP:0002017 "Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea." "UMLS:C0027498 SNOMEDCT_US:16932000" -MONDO:0011420 "Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone." "MESH:C565805 ICD10:E34.3 Orphanet:314802 OMIM:604271" +MONDO:0011420 "Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone." "MESH:C565805 Orphanet:314802 ICD10CM:E34.3 OMIM:604271" MONDO:0002014 "The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." "DOID:14759 UMLS:C0268340 SCTID:70610001" -MONDO:0015692 "Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2." "ICD9:238.73 SCTID:110000005 MedDRA:10038271 NCIT:C27080 ICDO:9984/3 UMLS:CN200189 UMLS:C0002894 Orphanet:168960 ICD10:D46.3 UMLS:C0280028" +MONDO:0015692 "Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2." "ICD9:238.73 SCTID:110000005 MedDRA:10038271 NCIT:C27080 ICDO:9984/3 UMLS:CN200189 UMLS:C0002894 Orphanet:168960 UMLS:C0280028" http://identifiers.org/hgnc/11922 MONDO:0002092 "A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "UMLS:C0238197 DOID:1738 NCIT:C7725 SCTID:424279009" MONDO:0013092 "Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene." "OMIM:613028 Orphanet:182067" -MONDO:0017425 "Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." "ICD10:Q69.1 GARD:0012767 Orphanet:294939 OMIMPS:174400" +MONDO:0017425 "Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity." "GARD:0012767 Orphanet:294939 OMIMPS:174400 ICD10CM:Q69.1" UBERON:0016525 -MONDO:0007315 "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." "ICD10:K10.8 UMLS:C0008029 MESH:D002636 Orphanet:184 DOID:1856 GARD:0006036 MedDRA:10070535 ICD9:526.89 SCTID:76098004 OMIM:118400 ICD10:M27.8 NCIT:C84630" +MONDO:0007315 "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." "MESH:D002636 NCIT:C84630 GARD:0006036 SCTID:76098004 ICD9:526.89 MedDRA:10070535 DOID:1856 UMLS:C0008029 OMIM:118400 Orphanet:184" MONDO:0042978 http://identifiers.org/hgnc/13486 MONDO:0018711 "Orphanet:457365 UMLS:CN242088" @@ -10955,25 +10952,25 @@ MONDO:0000584 "A hypobammaglobulinemia that is a B cell deficiency that has mate NCBITaxon:693660 "GC_ID:1" NCBITaxon:168 "GC_ID:11" CL:0000216 "A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier." "BTO:0001238 FMA:72298 CALOHA:TS-0922 VHOG:0001348" -MONDO:0017513 "Orphanet:295124 ICD10:Q72.7" +MONDO:0017513 "Orphanet:295124 ICD10CM:Q72.7" MONDO:0002732 "A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma." "DOID:3683 NCIT:C3200 SCTID:126713003 MESH:D008175 NCIT:C4454" -MONDO:0010661 "Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood." "ICD10:F72.9 MESH:C536759 UMLS:C0795965 Orphanet:3078 SCTID:722213009 GARD:0005611 OMIM:309555" +MONDO:0010661 "Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood." "MESH:C536759 UMLS:C0795965 Orphanet:3078 SCTID:722213009 GARD:0005611 OMIM:309555" UBERON:0016522 GO:0031099 "The regrowth of a lost or destroyed body part, such as an organ or tissue. This process may occur via renewal, repair, and/or growth alone (i.e. increase in size or mass)." -MONDO:0024574 "Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding." "NCIT:C68677 SCTID:128105004 ICD10:D68.0 ICD9:286.4 UMLS:C0042974 MESH:D014842" +MONDO:0024574 "Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding." "NCIT:C68677 SCTID:128105004 ICD10CM:D68.0 ICD9:286.4 UMLS:C0042974 MESH:D014842" MONDO:0014585 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37." "OMIM:616323 DOID:0110664 Orphanet:590 UMLS:C4225370 Orphanet:98913" -MONDO:0001815 "DOID:13839 ICD10:G25.9 UMLS:C0477355 ICD10:G20-G26 ICD9:333.90" +MONDO:0001815 "DOID:13839 ICD10CM:G20-G26 UMLS:C0477355 ICD9:333.90" MONDO:0600002 "An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness." "NCIT:C36169" MONDO:0008738 "A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder." "OMIM:202550 NCIT:C101074" MONDO:0042977 "GARD:0005262 Orphanet:79493 UMLS:C1275122 OMIM:601606 Orphanet:867" MONDO:0044273 "OMIM:608622" http://identifiers.org/hgnc/1759 -MONDO:0019165 "Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys)." "Orphanet:759 OMIMPS:176400 SCTID:237816004 OMIM:615346 MESH:C562787 ICD10:E22.8 UMLS:C0342543 OMIM:176400 ICD9:259.1" +MONDO:0019165 "Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys)." "Orphanet:759 OMIMPS:176400 SCTID:237816004 OMIM:615346 MESH:C562787 ICD10CM:E22.8 UMLS:C0342543 OMIM:176400 ICD9:259.1" CHEBI:24866 "A salt is an assembly of cations and anions." MONDO:0014139 "Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene." "Orphanet:75496 UMLS:C3809210 OMIM:615349" -MONDO:0015748 "White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." "GARD:0008501 Orphanet:171723 OMIM:615785 OMIM:193900 UMLS:C1721005 ICD10:Q38.6 NCIT:C84760 OMIMPS:193900 ICD9:528.6 MESH:D053529 DOID:0050448 SCTID:389203001" +MONDO:0015748 "White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." "GARD:0008501 Orphanet:171723 OMIM:615785 OMIM:193900 UMLS:C1721005 ICD10CM:Q38.6 NCIT:C84760 OMIMPS:193900 ICD9:528.6 MESH:D053529 DOID:0050448 SCTID:389203001" http://identifiers.org/hgnc/5461 -MONDO:0019804 "Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." "UMLS:C0948187 HP:0002779 ICD9:748.3 ICD10:Q32.0 DOID:0060313 NCIT:C98634 Orphanet:95430 MedDRA:10010654 SCTID:95467005 GARD:0010515" +MONDO:0019804 "Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months." "UMLS:C0948187 HP:0002779 ICD9:748.3 DOID:0060313 NCIT:C98634 Orphanet:95430 MedDRA:10010654 SCTID:95467005 GARD:0010515" MONDO:0000618 "DOID:0060080" NCBITaxon:10798 "GC_ID:1" http://identifiers.org/hgnc/3054 @@ -10981,35 +10978,35 @@ MONDO:0002179 MONDO:0018785 "OBSOLETE. A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." MONDO:0043075 "GARD:0000349 MESH:C537386 UMLS:C2931479" ENVO:01001192 "The surface layer of a mass of sediment." -MONDO:0001816 "ICD9:379.05 SCTID:42574005 DOID:13861 UMLS:C0155355 ICD10:H15.04" +MONDO:0001816 "ICD9:379.05 SCTID:42574005 DOID:13861 UMLS:C0155355" NCBITaxon:9526 "GC_ID:1" -MONDO:0005829 "An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep." "ICD9:063.1 EFO:0007348 UMLS:C0024025 ICD10:A84.8 DOID:10250 MESH:D008146" -MONDO:0010699 "X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype." "UMLS:C1839566 DOID:0110210 SCTID:763460007 GARD:0000114 ICD10:G60.0 OMIM:311070 Orphanet:99014" +MONDO:0005829 "An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep." "ICD9:063.1 EFO:0007348 UMLS:C0024025 DOID:10250 MESH:D008146" +MONDO:0010699 "X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype." "Orphanet:99014 ICD10CM:G60.0 UMLS:C1839566 SCTID:763460007 DOID:0110210 GARD:0000114 OMIM:311070" MONDO:0006006 "A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot." "SCTID:403904009 EFO:0007535 ICDO:8051/3 MESH:D018289 UMLS:C0206706 DOID:3737 NCIT:C3781 ICD9:199.1" MONDO:0002444 "A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite." "DOID:2848 MESH:D003866 NCIT:C34812 SCTID:35489007" MONDO:0044272 "OMIM:602025" http://identifiers.org/hgnc/18119 NCBITaxon:431037 "GC_ID:1" -MONDO:0007225 "Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females." "MESH:C537930 OMIM:113310 ICD10:Q73.8 Orphanet:1118 GARD:0002331 UMLS:C1862100" +MONDO:0007225 "Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females." "MESH:C537930 ICD10CM:Q73.8 OMIM:113310 Orphanet:1118 GARD:0002331 UMLS:C1862100" GO:0002885 "Any process that activates or increases the frequency, rate, or extent of hypersensitivity." MONDO:0010494 "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene." "Orphanet:2556 OMIM:300952 UMLS:C4225421" MONDO:0000617 HP:0002840 "Inflammation of a lymph node." "MSH:D008199 UMLS:C0024205 SNOMEDCT_US:19471005" http://identifiers.org/hgnc/2956 -MONDO:0100245 "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events." "UMLS:C0024790 UMLS:C0019050 ICD10:D59.1 ICD10:D59.6 MedDRA:10034042 SCTID:1963002 DOID:0060284 Orphanet:447 ICD10:D59.5 NCIT:C61233 GARD:0007337 HGNC:8957" +MONDO:0100245 "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events." "UMLS:C0024790 UMLS:C0019050 MedDRA:10034042 SCTID:1963002 DOID:0060284 Orphanet:447 NCIT:C61233 GARD:0007337 HGNC:8957" PCO:0000000 "A material entity that consists of two or more organisms, viruses, or viroids."@en -MONDO:0042975 "MEDGEN:418965 GARD:0004542 UMLS:C2931030 MESH:C535820" -MONDO:0001813 "ICD10:H01.02 ICD9:373.02 UMLS:C0155174 ICD10:H01.021-H01.029 MEDGEN:509829 SCTID:58912008 DOID:13825" +MONDO:0042975 "MEDGEN:418965 OMIM:264150 GARD:0004542 UMLS:C2931030 MESH:C535820" +MONDO:0001813 "ICD9:373.02 ICD10CM:H01.02 UMLS:C0155174 MEDGEN:509829 SCTID:58912008 DOID:13825" CHEBI:33452 "Arylmethyl groups and derivatives formed by substitution: ArCR2-." MONDO:0003375 -MONDO:0019493 "Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms)." "Orphanet:874 UMLS:C4275152 ICD10:C38.0 UMLS:CN206280 SCTID:715403006 ICD10:D15.1" +MONDO:0019493 "Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms)." "Orphanet:874 ICD10CM:D15.1 UMLS:C4275152 UMLS:CN206280 ICD10CM:C38.0 SCTID:715403006" MONDO:0020060 "Orphanet:98157" UBERON:0016520 MONDO:0044271 "OMIM:601884" ECTO:7000064 "A exposure event involving the interaction of an exposure receptor to air." GO:0048261 "Any process that stops, prevents, or reduces the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport." MONDO:0021138 "Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003" "NCIT:C35501 UMLS:C2703042" -MONDO:0012736 "Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene." "Orphanet:101016 DOID:0110650 OMIM:611818 GARD:0010435 Orphanet:768 ICD10:I45.8 MESH:C567515" +MONDO:0012736 "Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene." "Orphanet:101016 DOID:0110650 OMIM:611818 GARD:0010435 Orphanet:768 MESH:C567515" HP:0006705 "An abnormality of an atrioventricular valve." "UMLS:C4024995" MONDO:0000616 "DOID:0060078" PO:0025082 "A shoot system (PO:0009006) in the sporophytic phase that has as part at least one sporangium (PO:0025094)." @@ -11026,16 +11023,16 @@ http://identifiers.org/hgnc/2959 MONDO:0020101 "OBSOLETE. A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis." "UMLS:CN227780 Orphanet:98364 SCTID:111575000 NCIT:C101218" MONDO:0002113 "A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement." "SCTID:447781009 DOID:1791" CHEBI:33245 "An organic fundamental parent is a structure used as a basis for substitutive names in organic nomenclature, containing, in addition to one or more hydrogen atoms, a single atom of an element, a number of atoms (alike or different) linked together to form an unbranched chain, a monocyclic or polycyclic ring system, or a ring assembly or ring/chain system." -MONDO:0018224 "A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin." "Orphanet:364039 SCTID:763719001 NCIT:C45327 ICD10:C84.5 ICDO:9725/3 UMLS:C1708397" +MONDO:0018224 "A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin." "ICD10CM:C84.5 Orphanet:364039 SCTID:763719001 NCIT:C45327 ICDO:9725/3 UMLS:C1708397" NCBITaxon:37020 "GC_ID:1" GO:0060784 "Any process that modulates the frequency, rate or extent of cell proliferation resulting in the maintenance of a steady-state number of cells within a tissue." MONDO:0001814 GO:0032940 "The controlled release of a substance by a cell." MONDO:0011651 "OMIM:606220 MESH:C565248 UMLS:C1853507" -MONDO:0020061 "Orphanet:98158 ICD10:Q98.6" +MONDO:0020061 "Orphanet:98158 ICD10CM:Q98.6" MONDO:0044270 "OMIM:601816" ENVO:00002186 -MONDO:0004847 "A cataract with no obvious cause occurring in persons over 50 years old." "NCIT:C35012 ICD9:366.1 DOID:9669 ICD10:H25 SCTID:39450006 ICD9:366.10" +MONDO:0004847 "A cataract with no obvious cause occurring in persons over 50 years old." "NCIT:C35012 ICD9:366.1 DOID:9669 SCTID:39450006 ICD9:366.10" HP:0004363 "Any deviation from the normal concentration of calcium in the blood circulation." http://identifiers.org/hgnc/29186 MONDO:0000615 "DOID:0060077" @@ -11047,43 +11044,43 @@ MONDO:0012850 "DOID:0080077 UMLS:C2676786 Orphanet:244305 MESH:C567363 OMIM:612 CHEBI:17781 "A compound showing blue fluorescence, formed by a photolysis of riboflavin in acid or neutral solution." MONDO:0021034 "An instance of alopecia that is caused by a modification of the individual's genome." "Orphanet:481771" FOODON:00001916 -MONDO:0019726 "Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody)." "UMLS:CN206633 ICD10:D89.1 Orphanet:93554" +MONDO:0019726 "Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody)." "UMLS:CN206633 ICD10CM:D89.1 Orphanet:93554" MONDO:0000613 MONDO:0011654 "MESH:C565246 OMIM:606242 UMLS:C1853480" MONDO:0006195 "A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." "NCIT:C6433 EFO:1000237" HP:0100639 "A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological." -MONDO:0009849 "Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." "GARD:0002788 Orphanet:343 UMLS:C0398691 OMIM:260920 ICD10:E85.0" +MONDO:0009849 "Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." "GARD:0002788 Orphanet:343 UMLS:C0398691 OMIM:260920 ICD10CM:E85.0" http://identifiers.org/hgnc/10985 MONDO:0004806 "Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement." "SCTID:233692000 NCIT:C34471 DOID:9502" MONDO:0000614 -MONDO:0002175 "SCTID:267611002 UMLS:C0339436 ICD9:362.5 ICD10:H35.3 DOID:2007" +MONDO:0002175 "SCTID:267611002 UMLS:C0339436 ICD9:362.5 ICD10CM:H35.3 DOID:2007" MONDO:0042972 "ICD9:036.2 MEDGEN:6300 SCTID:4089001 GARD:0003472 UMLS:C0025306" -MONDO:0009581 "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait." "ICD10:Q87.8 MESH:C537447 GARD:0009811 UMLS:C1855303 Orphanet:3044 OMIM:249599 SCTID:722454003" +MONDO:0009581 "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait." "MESH:C537447 GARD:0009811 ICD10CM:Q87.8 UMLS:C1855303 Orphanet:3044 OMIM:249599 SCTID:722454003" MONDO:0043071 "MESH:C536723 GARD:0000339 UMLS:C2931300" FOODON:00001911 -MONDO:0007848 "Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia." "OMIM:148190 UMLS:CN068649 GARD:0003089 UMLS:C1835698 ICD10:H16.8 UMLS:C4017065 DOID:0111383 MESH:C537022 SCTID:715339004 Orphanet:2334" +MONDO:0007848 "Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia." "OMIM:148190 UMLS:CN068649 GARD:0003089 UMLS:C1835698 UMLS:C4017065 ICD10CM:H16.8 DOID:0111383 MESH:C537022 SCTID:715339004 Orphanet:2334" MONDO:0012851 "MESH:C567362 DOID:0080078 Orphanet:244305 UMLS:C2676782 OMIM:612287" MONDO:0010456 "UMLS:C3275446 Orphanet:319308 OMIM:300854" UBERON:0014388 -MONDO:0020518 "Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules)." "MESH:C535843 ICD9:277.89 ICD10:C96.5 Orphanet:99872 UMLS:C1275336 GARD:0002604 SCTID:404160007" +MONDO:0020518 "Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules)." "ICD10CM:C96.5 MESH:C535843 ICD9:277.89 Orphanet:99872 UMLS:C1275336 GARD:0002604 SCTID:404160007" HP:0007707 "Absence of the crystalline lens of the eye as a result of a developmental defect." "UMLS:C1853230 MSH:C537786" CHEBI:36914 MONDO:0011653 "UMLS:C1853488 Orphanet:319487 OMIM:606240" -MONDO:0013354 "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene." "Orphanet:254343 DOID:0050943 ICD10:G11.4 GARD:0010992 OMIM:613672 UMLS:C3150925 UMLS:CN230090" +MONDO:0013354 "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene." "ICD10CM:G11.4 Orphanet:254343 DOID:0050943 GARD:0010992 OMIM:613672 UMLS:C3150925 UMLS:CN230090" ENVO:03600001 "Sediment which contains some chemical contaminant."@en UBERON:0034681 MONDO:0024635 "A disease that involves the small intestine." "SCTID:119522002 UMLS:C0341268" -MONDO:0019916 "Orphanet:96185 ICD10:Q99.8" +MONDO:0019916 "ICD10CM:Q99.8 Orphanet:96185" UBERON:0014389 -MONDO:0007935 "An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis." "OMIM:153880 NCIT:C34794 UMLS:C0024440 UMLS:C0730317 SCTID:312921000 DOID:4447 Orphanet:75381 ICD10:H35.5" -MONDO:0002087 "A malignant neoplasm involving the peritoneum" "DOID:1725 NCIT:C3538 ICD9:158.8 UMLS:C0153467 ICD10:C48.1 SCTID:363492001 ICD9:158.9 ICD9:159.8" +MONDO:0007935 "An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis." "OMIM:153880 NCIT:C34794 UMLS:C0024440 UMLS:C0730317 SCTID:312921000 ICD10CM:H35.5 DOID:4447 Orphanet:75381" +MONDO:0002087 "A malignant neoplasm involving the peritoneum" "DOID:1725 NCIT:C3538 ICD9:158.8 UMLS:C0153467 SCTID:363492001 ICD9:158.9 ICD9:159.8" MONDO:0011337 "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene." "DOID:0110922 Orphanet:540 MESH:C537250 GARD:0009922 OMIM:603553" CHEBI:51447 MONDO:0005978 "Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition." "EFO:0007506 SCTID:68771000 MESH:D013801 DOID:3733 ICD9:136.8 UMLS:C0039753" -MONDO:0015443 "Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome." "UMLS:CN036129 GTR:AN0101480 SCTID:715983001 Orphanet:1450 NCIT:C121988 ICD10:Q93.2 GTR:AN0101479 GARD:0001347 MESH:C537824" +MONDO:0015443 "Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome." "UMLS:CN036129 GTR:AN0101480 SCTID:715983001 Orphanet:1450 NCIT:C121988 GTR:AN0101479 ICD10CM:Q93.2 GARD:0001347 MESH:C537824" CHEBI:36915 MONDO:0000877 -MONDO:0019980 "Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present." "Orphanet:97362 SCTID:268232000 ICD10:Q60.4" +MONDO:0019980 "Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present." "Orphanet:97362 ICD10CM:Q60.4 SCTID:268232000" MONDO:0011656 "MESH:C565240 OMIM:606263 UMLS:C1853473" MONDO:0006166 "A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini." "NCIT:C54183 EFO:1000199 UMLS:C1707446" MONDO:0018718 "UMLS:CN242155 Orphanet:458827" @@ -11098,70 +11095,70 @@ ECTO:0000776 "An exposure to signalling molecule." MONDO:0010458 "Orphanet:440 OMIM:300856" MONDO:0013566 "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene." "OMIM:614083 DOID:0111082" CHEBI:30089 "A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of acetic acid." -MONDO:0019919 "Orphanet:96188 ICD10:Q99.8" +MONDO:0019919 "Orphanet:96188 ICD10CM:Q99.8" CHEBI:33233 "A particle not known to have substructure." CHEBI:51446 MONDO:0014151 "OMIM:615371" MONDO:0000876 -MONDO:0012248 "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." "GARD:0012535 NCIT:C133730 EFO:0009145 DOID:0110297 ICD10:G71.0 OMIM:609308 SCTID:720523006 Orphanet:86812" +MONDO:0012248 "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." "GARD:0012535 NCIT:C133730 EFO:0009145 DOID:0110297 ICD10CM:G71.0 OMIM:609308 SCTID:720523006 Orphanet:86812" MONDO:0010906 "Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene." "UMLS:C2677434 OMIM:600625 Orphanet:1991 DOID:0080404" MONDO:0018719 GO:0099578 "Any process that modulates synaptic transmission by regulating translation occurring at the postsynapse." http://identifiers.org/hgnc/10982 GO:0098589 MONDO:0013517 "Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype." "Orphanet:848 OMIM:613985 Orphanet:231222 SCDO:0000251 Orphanet:231214" -MONDO:0016222 "Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis." "ICDO:9136/0 Orphanet:210584 UMLS:C1304508 ICDO:9136/1 DOID:496 EFO:0002856 NCIT:C4754 ICD10:D18.0 SCTID:403967000" -MONDO:0004571 "ICD10:K56.4 ICD10:K56.49 ICD9:560.30 DOID:8448 ICD9:560.39 SCTID:62851005" +MONDO:0016222 "Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis." "ICDO:9136/0 Orphanet:210584 UMLS:C1304508 ICDO:9136/1 DOID:496 EFO:0002856 NCIT:C4754 ICD10CM:D18.0 SCTID:403967000" +MONDO:0004571 "ICD9:560.30 DOID:8448 ICD9:560.39 SCTID:62851005" UBERON:0014387 -MONDO:0019918 "Orphanet:96187 ICD10:Q99.8" +MONDO:0019918 "ICD10CM:Q99.8 Orphanet:96187" http://identifiers.org/hgnc/19344 MONDO:0010431 "Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene." "OMIM:300804 DOID:0110981 Orphanet:2754 MESH:C567582 UMLS:C2749019" -MONDO:0005439 "An inheritable form of hyperlipidemia, in which there are excess lipids in the blood." "OMIM:143890 OMIM:144010 SCTID:398036000 ICD10:E78.0 OMIM:603776 OMIMPS:143890 UMLS:CN118841 NCIT:C34704 EFO:0004911 SCTID:190773008 ICD9:V19.8 DOID:13810" +MONDO:0005439 "An inheritable form of hyperlipidemia, in which there are excess lipids in the blood." "OMIM:143890 OMIM:144010 SCTID:398036000 OMIM:603776 OMIMPS:143890 UMLS:CN118841 NCIT:C34704 EFO:0004911 SCTID:190773008 ICD9:V19.8 DOID:13810" NCBITaxon:4892 "GC_ID:1" PO:0000018 "A floral structure primordium (PO:0025477) that is committed to the development of an ovule (PO:0020003)." "PO_GIT:465" http://identifiers.org/hgnc/24036 UBERON:0035884 -MONDO:0008938 "Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." "SCTID:230228004 GARD:0002600 MESH:C535633 ICD10:G11.1 Orphanet:1177 OMIM:212895 ICD9:334.3 UMLS:C0393520" +MONDO:0008938 "Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." "ICD10CM:G11.1 SCTID:230228004 GARD:0002600 MESH:C535633 Orphanet:1177 OMIM:212895 ICD9:334.3 UMLS:C0393520" GO:0032229 "Any process that stops, prevents, or reduces the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA)." -MONDO:0008966 "Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life." "DOID:6691 MESH:C535330 ICD10:Q82.0 ICD9:576.8 SCTID:28724005 GARD:0000370 OMIM:214900 NCIT:C35709 UMLS:C0268314 Orphanet:1414" -MONDO:0008261 "ICD10:Q82.8 MESH:C562824 OMIM:173700 Orphanet:221039" -MONDO:0017673 "A focal palmoplantar keratoderma that is not part of a larger syndrome." "ICD10:Q82.8 Orphanet:307846" +MONDO:0008966 "Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life." "DOID:6691 MESH:C535330 ICD9:576.8 SCTID:28724005 GARD:0000370 ICD10CM:Q82.0 OMIM:214900 NCIT:C35709 UMLS:C0268314 Orphanet:1414" +MONDO:0008261 "MESH:C562824 ICD10CM:Q82.8 OMIM:173700 Orphanet:221039" +MONDO:0017673 "A focal palmoplantar keratoderma that is not part of a larger syndrome." "Orphanet:307846 ICD10CM:Q82.8" CL:0002092 "A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells." "FMA:83621 BTO:0004850" -MONDO:0016583 "Orphanet:2454 ICD10:Q43.3 OMIM:193250 GARD:0005000" -MONDO:0014469 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene." "OMIM:616042 ICD10:H90.3 UMLS:C4015050 DOID:0110464" +MONDO:0016583 "Orphanet:2454 OMIM:193250 GARD:0005000 ICD10CM:Q43.3" +MONDO:0014469 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene." "OMIM:616042 UMLS:C4015050 DOID:0110464" UBERON:0006956 http://identifiers.org/hgnc/1762 MONDO:0018170 "Nephrotic syndrome for which no cause has been identified." "NCIT:C122796 Orphanet:357502 UMLS:C3496337" -MONDO:0010830 "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene." "MESH:C537952 Orphanet:228354 OMIM:600143 SCTID:703526007 ICD10:E75.4 Orphanet:79264 Orphanet:168491 DOID:0110723" +MONDO:0010830 "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene." "ICD10CM:E75.4 MESH:C537952 Orphanet:228354 OMIM:600143 SCTID:703526007 Orphanet:79264 Orphanet:168491 DOID:0110723" MONDO:0003816 "A disease involving the articular cartilage of joint." "ICD9:718.02 SCTID:53417006 ICD9:718.0 UMLS:C0158073 DOID:6227 ICD9:718.00" MONDO:0004146 "A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." "NCIT:C4333 EFO:1000602 UMLS:C0334611 MESH:D008579 DOID:7213 ICDO:9537/0" GO:0007018 "A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules." FOODON:03460141 "http://www.langual.org/langual_thesaurus.asp?termid=H0141" -MONDO:0008318 "Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." "SCTID:23150001 NCIT:C85032 UMLS:C0085261 UMLS:C1867610 Orphanet:744 ICD9:759.89 MESH:D016715 OMIM:176920 ICD10:Q87.3 DOID:13482 GARD:0007475" +MONDO:0008318 "Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." "ICD10CM:Q87.3 SCTID:23150001 NCIT:C85032 UMLS:C0085261 UMLS:C1867610 Orphanet:744 ICD9:759.89 MESH:D016715 OMIM:176920 DOID:13482 GARD:0007475" MONDO:0014297 "Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene." "Orphanet:2754 OMIM:615665 UMLS:C3810278 DOID:0110991" MONDO:0027407 "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3." "UMLS:C0795833 SCTID:724207001 MESH:C563043 DOID:0070075 NCIT:C129976 OMIM:610253" MONDO:0042980 "UMLS:C1279186 MEDGEN:224821 GTR:AN0099345 SCTID:182747006 GTR:AN0099344 MESH:C536694 GTR:AN0099343 GARD:0005557" -MONDO:0015385 "ICD10:Q16.1 OMIM:108760 OMIM:607842 Orphanet:141074" +MONDO:0015385 "OMIM:108760 OMIM:607842 Orphanet:141074" MONDO:0005399 "Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream." "UMLS:C1861172 MESH:D054556 NCIT:C99537 EFO:0004286" MONDO:0003108 "NCIT:C5423 UMLS:C1332923 DOID:4707" NCBITaxon:4893 "GC_ID:1" NCBITaxon:1980486 "GC_ID:1" -MONDO:0014289 "Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally." "UMLS:C3810225 ICD10:Q75.3 Orphanet:397612 OMIM:615637" -MONDO:0017190 "Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating." "ICD10:D35.0 UMLS:CN202630 ICD10:C74.1 Orphanet:276621 GARD:0007385" +MONDO:0014289 "Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally." "ICD10CM:Q75.3 UMLS:C3810225 Orphanet:397612 OMIM:615637" +MONDO:0017190 "Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating." "UMLS:CN202630 ICD10CM:C74.1 ICD10CM:D35.0 Orphanet:276621 GARD:0007385" MONDO:0016582 "GARD:0001495 Orphanet:2447" http://identifiers.org/hgnc/6654 UBERON:0006955 http://identifiers.org/hgnc/18111 -MONDO:0009564 "Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." "ICD9:759.89 OMIM:248700 SCTID:449824004 ICD10:Q87.0 Orphanet:2461 GARD:0006973 MESH:C535910" +MONDO:0009564 "Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." "ICD9:759.89 OMIM:248700 SCTID:449824004 Orphanet:2461 GARD:0006973 MESH:C535910 ICD10CM:Q87.0" MONDO:0004569 "UMLS:C0006091 DOID:8443 SCTID:3548001 ICD9:353.0" -MONDO:0010976 "A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering." "MESH:C563408 ICD10:Q81.0 Orphanet:89838 OMIM:601001" +MONDO:0010976 "A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering." "MESH:C563408 ICD10CM:Q81.0 Orphanet:89838 OMIM:601001" MONDO:0002807 "Tumors or cancer of the bronchi." "EFO:1000849 DOID:3906 MESH:D001984 UMLS:C0006264 SCTID:126705004 HP:0030077" MONDO:0007065 UBERON:0010690 GO:0090155 "Any process that decreases the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid)." -MONDO:0017781 "OMIM:616803 UMLS:CN203731 Orphanet:313884 ICD10:Q93.5" +MONDO:0017781 "OMIM:616803 UMLS:CN203731 Orphanet:313884 ICD10CM:Q93.5" MONDO:0001809 "DOID:13812 SCTID:361115000 ICD9:621.5 UMLS:CN199257" -MONDO:0016041 "Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies." "SCTID:83714006 ICD9:750.7 Orphanet:199293 ICD10:Q40.2" +MONDO:0016041 "Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies." "SCTID:83714006 ICD10CM:Q40.2 ICD9:750.7 Orphanet:199293" CL:0000072 MONDO:0007066 "UMLS:C1863225 GARD:0000548 OMIM:102800 Orphanet:1044 MESH:C566311 SCTID:725057008" HP:0003621 "Onset of signs or symptoms of disease between the age of 5 and 15 years." "UMLS:C4025588" @@ -11178,38 +11175,38 @@ GO:0070254 "The regulated release of mucus by the mucosa. Mucus is a viscous sli UBERON:0015593 UBERON:0035881 MONDO:0003106 -MONDO:0010305 "X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures." "ICD10:E72.8 NCIT:C125665 DOID:0050800 ICD9:758.81 SCTID:698290008 GARD:0001608 MESH:C535598 Orphanet:52503 OMIM:300352" +MONDO:0010305 "X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures." "ICD10CM:E72.8 NCIT:C125665 DOID:0050800 ICD9:758.81 SCTID:698290008 GARD:0001608 MESH:C535598 Orphanet:52503 OMIM:300352" http://identifiers.org/hgnc/24039 GO:0040011 "Self-propelled movement of a cell or organism from one location to another." MONDO:0060611 "OMIM:617780 UMLS:C4540434" -MONDO:0008259 "Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated." "UMLS:C1868193 SCTID:715219001 UMLS:C4275252 GARD:0004997 MESH:C566795 OMIM:173600 ICD10:J93.1 DOID:0080218 Orphanet:2903" +MONDO:0008259 "Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated." "UMLS:C1868193 SCTID:715219001 UMLS:C4275252 GARD:0004997 MESH:C566795 ICD10CM:J93.1 OMIM:173600 DOID:0080218 Orphanet:2903" PATO:0002098 "A disposition inhering in a tumour by virtue of the bearer's disposition to spread and invade distant tissues." GO:0043244 "Any process that modulates the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components." MONDO:0012518 "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene." "DOID:0110660 OMIM:610542 Orphanet:590 Orphanet:353327" -MONDO:0005728 "A disease involving the diaphragm." "ICD10:J98.6 UMLS:C0152097 ICD9:519.4 DOID:10481 SCTID:48475001 EFO:0007233" +MONDO:0005728 "A disease involving the diaphragm." "UMLS:C0152097 ICD9:519.4 DOID:10481 SCTID:48475001 EFO:0007233" MONDO:0003439 "An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma." "NCIT:C7414 DOID:5427 UMLS:C1336893" http://identifiers.org/hgnc/25230 UBERON:0014395 HP:0012824 "The intensity or degree of a manifestation." "UMLS:C0522510 SNOMEDCT_US:103370009" -MONDO:0024568 "Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene." "ICD10:K72.0 Orphanet:370088 OMIM:615438 UMLS:C3809522 GARD:0013114" +MONDO:0024568 "Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene." "OMIM:615438 Orphanet:370088 UMLS:C3809522 GARD:0013114 ICD10CM:K72.0" UBERON:0006953 MONDO:0012132 "Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene." "OMIM:608812" MONDO:0008447 "Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene." "DOID:0110916 UMLS:C2674218 Orphanet:822 OMIM:182900" MONDO:0003052 "Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis." "UMLS:C1333876 NCIT:C27626 DOID:4561" -MONDO:0018977 "Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait." "ICD10:G61.8 UMLS:C1736154 Orphanet:639" -MONDO:0012761 "3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly." "SCTID:717973004 DOID:0060459 OMIM:611936 Orphanet:251038 ICD10:Q92.3 UMLS:C2749873 GARD:0010360 MESH:C567626" +MONDO:0018977 "Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait." "ICD10CM:G61.8 UMLS:C1736154 Orphanet:639" +MONDO:0012761 "3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly." "SCTID:717973004 DOID:0060459 OMIM:611936 Orphanet:251038 UMLS:C2749873 GARD:0010360 MESH:C567626" HP:0000095 "A structural anomaly of the glomerulus." "UMLS:C4025889" GO:0072522 "The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof." MONDO:0009463 "OMIM:243100" -MONDO:0014428 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene." "DOID:0110463 ICD10:H90.3 UMLS:C3892050 OMIM:615974" +MONDO:0014428 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene." "DOID:0110463 UMLS:C3892050 OMIM:615974" UBERON:0014392 -MONDO:0011168 "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene." "OMIM:601942 ICD10:E10 DOID:0110749 UMLS:C1866040 MESH:C566602" +MONDO:0011168 "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene." "OMIM:601942 DOID:0110749 UMLS:C1866040 MESH:C566602" http://identifiers.org/hgnc/1500 -MONDO:0008291 "Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized." "OMIM:175850 SCTID:718218005 ICD10:Q82.8 Orphanet:737" +MONDO:0008291 "Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized." "OMIM:175850 SCTID:718218005 ICD10CM:Q82.8 Orphanet:737" UBERON:0010693 UBERON:0008256 http://identifiers.org/hgnc/16817 -MONDO:0001046 "A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities." "DOID:10488 Orphanet:557 OMIM:207500 GARD:0006769 OMIM:301800 ICD10:Q42.3 MESH:D001006 SCTID:204731006 NCIT:C84784" +MONDO:0001046 "A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities." "DOID:10488 Orphanet:557 OMIM:207500 GARD:0006769 OMIM:301800 MESH:D001006 SCTID:204731006 NCIT:C84784" MONDO:0004300 MONDO:0013183 "Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene." "OMIM:613216 MESH:C567704 DOID:0110867 UMLS:C2750747" http://identifiers.org/hgnc/4261 @@ -11223,23 +11220,23 @@ NCBITaxon:37296 "GC_ID:1" MONDO:0009462 "UMLS:C1855737 OMIM:243080 MESH:C565465" ENVO:01001001 "An environmental system determined by a green plant." MONDO:0000609 -MONDO:0017043 "A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis." "UMLS:C1332965 MedDRA:10070665 MESH:D018201 Orphanet:2665 DOID:4773 SCTID:307604008 NCIT:C6569 ICDO:8960/1 GARD:0001493 ICD10:D41.0" +MONDO:0017043 "A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis." "UMLS:C1332965 MedDRA:10070665 MESH:D018201 Orphanet:2665 DOID:4773 SCTID:307604008 ICD10CM:D41.0 NCIT:C6569 ICDO:8960/1 GARD:0001493" MONDO:0100384 "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)" "NCIT:C36371" UBERON:0014393 -MONDO:0014192 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene." "UMLS:C3809543 ICD10:Q34.8 OMIM:615444 DOID:0110597" +MONDO:0014192 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene." "UMLS:C3809543 OMIM:615444 DOID:0110597" MONDO:0007061 "OMIM:102590" NCBITaxon:4890 "GC_ID:1 PMID:17572334" MONDO:0000650 "A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis." "UMLS:C0496874 NCIT:C8612 DOID:0060117" -MONDO:0001805 "UMLS:C0153549 ICD9:174.1 SCTID:188151006 DOID:13799 ICD10:C50.11" +MONDO:0001805 "UMLS:C0153549 ICD9:174.1 SCTID:188151006 DOID:13799" MONDO:0003101 -MONDO:0002268 "An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease." "MESH:D004415 DOID:2321 NCIT:C26756 ICD10:K30 EFO:0008533 ICD10:R10.13" +MONDO:0002268 "An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease." "MESH:D004415 DOID:2321 NCIT:C26756 EFO:0008533" MONDO:0044322 "Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017})." "OMIM:617532 UMLS:C4479636" GO:1905123 "Any process that modulates the frequency, rate or extent of glucosylceramidase activity." MONDO:0006156 "A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability." "UMLS:C3272791 NCIT:C96464 EFO:1000189" -MONDO:0008702 "Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." "GARD:0008713 Orphanet:93297 Orphanet:93296 ICD10:Q77.0 MESH:C536017 OMIM:200610 DOID:0080056 Orphanet:932" +MONDO:0008702 "Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." "GARD:0008713 ICD10CM:Q77.0 Orphanet:93297 Orphanet:93296 MESH:C536017 OMIM:200610 DOID:0080056 Orphanet:932" MONDO:0021239 "A neoplasm (disease) that involves the urethra." "EFO:0003846 NCIT:C3428" HP:0012535 "An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process." "UMLS:C4021083" -MONDO:0012825 "A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs." "OMIM:612237 ICD10:C49.9 ONCOTREE:EMCHS NCIT:C27502 SCTID:404079008 MESH:C563195 DOID:6496 ICD9:171.9 UMLS:C1275278 Orphanet:209916" +MONDO:0012825 "A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs." "OMIM:612237 ONCOTREE:EMCHS NCIT:C27502 SCTID:404079008 ICD10CM:C49.9 MESH:C563195 DOID:6496 ICD9:171.9 UMLS:C1275278 Orphanet:209916" UBERON:0010695 http://identifiers.org/hgnc/31371 HP:0002148 "An abnormally decreased phosphate concentration in the blood." "MSH:D017674 UMLS:C0085682 SNOMEDCT_US:4996001" @@ -11250,9 +11247,9 @@ MONDO:0013554 "Any psoriasis in which the cause of the disease is a mutation in MONDO:0010450 "Orphanet:777 OMIM:300848 MESH:C564036" UBERON:0014390 MONDO:0015052 "OBSOLETE. Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." "Orphanet:100049 UMLS:CN197343" -MONDO:0005129 "Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)" "OMIM:116100 MESH:D002386 ICD9:366.9 OMIMPS:116200 SCTID:193570009 OMIM:115900 EFO:0001059 ICD9:366 NCIT:C26713 HP:0000518 OMIM:616279 ICD9:366.8 DOID:83 ICD9:366.44 ICD10:H26 OMIM:601371 OMIM:616509" +MONDO:0005129 "Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)" "OMIM:116100 MESH:D002386 ICD9:366.9 OMIMPS:116200 SCTID:193570009 OMIM:115900 EFO:0001059 ICD9:366 NCIT:C26713 HP:0000518 OMIM:616279 ICD9:366.8 DOID:83 ICD9:366.44 OMIM:601371 OMIM:616509" HP:0000763 "Peripheral neuropathy affecting the sensory nerves." "UMLS:C0151313 SNOMEDCT_US:95662005" -MONDO:0019815 "Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly." "Orphanet:95462 ICD10:Q22.8" +MONDO:0019815 "Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly." "Orphanet:95462 ICD10CM:Q22.8" HP:0002093 "UMLS:C4020855 SNOMEDCT_US:409623005 UMLS:C0035229 MSH:D012131" GO:0009250 "The chemical reactions and pathways resulting in the formation of glucans, polysaccharides consisting only of glucose residues." UBERON:0011894 @@ -11275,74 +11272,74 @@ UBERON:0014391 http://identifiers.org/hgnc/30172 UBERON:0013191 MONDO:0018720 "Orphanet:458833" -MONDO:0016325 "ICD10:E74.0 UMLS:CN201158 Orphanet:217572" +MONDO:0016325 "UMLS:CN201158 ICD10CM:E74.0 Orphanet:217572" MONDO:0024864 "UMLS:C0278868 NCIT:C9090" MONDO:0018986 GO:0005579 "A protein complex produced by sequentially activated components of the complement cascade inserted into a target cell membrane and forming a pore leading to cell lysis via ion and water flow." MONDO:0021454 "A benign neoplasm that involves the eye." "ICD9:224.0 ICD9:224.9 ICD9:224.8 SCTID:92097004 NCIT:C4780 UMLS:C0496897" MONDO:0000911 "OBSOLETE. Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene." "MESH:C566052 OMIM:613740 DOID:0110452 UMLS:C3151039" -MONDO:0012624 "A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." "SCTID:725046003 UMLS:C1970173 MESH:C567006 OMIM:611126 Orphanet:99901 ICD10:E71.3" +MONDO:0012624 "A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy." "ICD10CM:E71.3 SCTID:725046003 UMLS:C1970173 MESH:C567006 OMIM:611126 Orphanet:99901" MONDO:0007905 "MESH:C563621 UMLS:C1835395 OMIM:151640" MONDO:0044338 "An autoimmune form of primary ovarian failure." "SCTID:237790001 ICD9:256.39 UMLS:C0342508 ICD9:279.49" http://identifiers.org/hgnc/25491 MONDO:0022469 -MONDO:0005126 "A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." "DOID:1025 UMLS:C0023351 MESH:D015441 SCTID:70143003 ICD9:030.1 EFO:0001056 ICD10:A30.1" +MONDO:0005126 "A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." "DOID:1025 UMLS:C0023351 MESH:D015441 SCTID:70143003 ICD9:030.1 ICD10CM:A30.1 EFO:0001056" UBERON:0004553 -MONDO:0007119 "Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." "OMIM:617142 ICD10:Q13.1 UMLS:C0003076 Orphanet:250923 OMIM:106210 OMIMPS:106210 OMIM:617141" +MONDO:0007119 "Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." "OMIM:617142 ICD10CM:Q13.1 UMLS:C0003076 Orphanet:250923 OMIM:106210 OMIMPS:106210 OMIM:617141" UBERON:0010697 -MONDO:0015127 "ICD10:E23.0 Orphanet:101957" +MONDO:0015127 "Orphanet:101957" MONDO:0017788 "UMLS:CN203738 Orphanet:314002" MONDO:0009201 "UMLS:C1856893 MESH:C565580 OMIM:227250" http://identifiers.org/hgnc/11918 -MONDO:0017522 "ICD10:Q74.8 Orphanet:295142" +MONDO:0017522 "ICD10CM:Q74.8 Orphanet:295142" http://identifiers.org/hgnc/12015 -MONDO:0014024 "Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported." "OMIM:615043 UMLS:C2680446 SCTID:764736001 ICD10:G11.4 Orphanet:320370 DOID:0110795" -MONDO:0009467 "GARD:0003928 UMLS:C1855732 Orphanet:1654 ICD10:Q87.8 OMIM:243185 MESH:C538341" +MONDO:0014024 "Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported." "OMIM:615043 UMLS:C2680446 SCTID:764736001 Orphanet:320370 ICD10CM:G11.4 DOID:0110795" +MONDO:0009467 "ICD10CM:Q87.8 GARD:0003928 UMLS:C1855732 Orphanet:1654 OMIM:243185 MESH:C538341" MONDO:0000831 "The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury." "NCIT:C26891 MESH:D013927 ICD9:453.9 SCTID:439127006 DOID:0060903" -MONDO:0006707 http://identifiers.org/hgnc/23096 -MONDO:0001532 "A infectious disease involving the Capillaria." "ICD9:127.5 DOID:12474 UMLS:C0006897 SCTID:52979002 ICD10:B81.1" +MONDO:0001532 "A infectious disease involving the Capillaria." "ICD9:127.5 DOID:12474 UMLS:C0006897 SCTID:52979002" MONDO:0003164 "A neoplasm involving a cauda equina." "UMLS:C1263892 DOID:4847 SCTID:126963001 NCIT:C5479" CHEBI:29347 "A carboxamide derived from a monocarboxylic acid." -MONDO:0016458 "The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly." "SCTID:719684000 ICD10:Q92.3 UMLS:C4304504 Orphanet:228399 GARD:0012816 UMLS:CN201422" +MONDO:0016458 "The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly." "SCTID:719684000 UMLS:C4304504 Orphanet:228399 GARD:0012816 UMLS:CN201422" MONDO:0018721 "Orphanet:458837 UMLS:CN242069" MONDO:0016324 MONDO:0022202 UBERON:0010699 -MONDO:0019083 "OMIM:256000 Orphanet:70474 UMLS:CN205578 ICD10:G31.8" +MONDO:0019083 "OMIM:256000 ICD10CM:G31.8 Orphanet:70474 UMLS:CN205578" MONDO:0007907 "UMLS:C1835373 MESH:C563620 OMIM:151700" UBERON:0010698 UBERON:0004554 -MONDO:0015126 "ICD10:E31.9 ICD10:E31.8 ICD10:E31.1 Orphanet:101956 ICD10:E31.0" -MONDO:0017523 "UMLS:CN203254 Orphanet:295144 ICD10:Q69.1" +MONDO:0015126 "ICD10CM:E31.1 ICD10CM:E31.0 ICD10CM:E31.9 ICD10CM:E31.8 Orphanet:101956" +MONDO:0017523 "UMLS:CN203254 Orphanet:295144 ICD10CM:Q69.1" MONDO:0003563 "Diffuse replacement of the lung tissue by connective tissue." "DOID:5641 UMLS:C0865849 NCIT:C27216" MONDO:0009466 MONDO:0009014 "Any cornea plana in which the cause of the disease is a mutation in the KERA gene." "MESH:C565677 UMLS:C1857574 Orphanet:53691 OMIM:217300" CL:0001012 UBERON:0005753 -MONDO:0009565 "This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis." "UMLS:C1855348 MESH:C565411 Orphanet:2172 ICD10:Q87.8 GARD:0003615 OMIM:248760" +MONDO:0009565 "This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis." "UMLS:C1855348 MESH:C565411 Orphanet:2172 ICD10CM:Q87.8 GARD:0003615 OMIM:248760" MONDO:0016589 "OMIM:615851 Orphanet:247198" UBERON:0003358 NCBITaxon:6194 "GC_ID:1" http://identifiers.org/hgnc/13211 -MONDO:0016323 "ICD10:J84.8 Orphanet:217566 OMIM:610913" -MONDO:0011439 "Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." "Orphanet:98762 GARD:0010476 OMIM:604326 NCIT:C154316 DOID:0050962 MESH:C565790 ICD10:G11.2 UMLS:C1858501 SCTID:719208005 UMLS:C4304885" +MONDO:0016323 "Orphanet:217566 ICD10CM:J84.8 OMIM:610913" +MONDO:0011439 "Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." "Orphanet:98762 GARD:0010476 OMIM:604326 ICD10CM:G11.2 NCIT:C154316 DOID:0050962 MESH:C565790 UMLS:C1858501 SCTID:719208005 UMLS:C4304885" MONDO:0022201 MONDO:0012709 "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene." "UMLS:C1968843 Orphanet:98938 OMIM:611638 MESH:C566899" -MONDO:0011154 "Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997." "GARD:0000499 SCTID:720429007 DOID:0060385 MESH:C538185 UMLS:C1866168 Orphanet:1787 ICD10:Q75.4 OMIM:601829" +MONDO:0011154 "Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997." "GARD:0000499 SCTID:720429007 DOID:0060385 ICD10CM:Q75.4 MESH:C538185 UMLS:C1866168 Orphanet:1787 OMIM:601829" MONDO:0016713 "A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone." "MedDRA:10057846 NCIT:C129537 Orphanet:251870" http://identifiers.org/hgnc/9155 http://identifiers.org/hgnc/10718 MONDO:0003303 "A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells." "UMLS:C1333751 NCIT:C5746 DOID:5150" http://identifiers.org/hgnc/14412 ENVO:01001549 "A freezing process during which liquid water is transformed into water ice." +http://identifiers.org/hgnc/12013 MONDO:0023664 "OMIM:619379" CHR:9606-chr6q16 MONDO:0006028 "A carcinoma that arises from glandular epithelial cells of the caecum" "SCTID:413446001 DOID:3039 NCIT:C5543 UMLS:C1332866 EFO:1000020" -MONDO:0017520 "Orphanet:295138 ICD10:Q73.8 UMLS:CN203253" +MONDO:0017520 "Orphanet:295138 ICD10CM:Q73.8 UMLS:CN203253" GO:0042753 "Any process that activates or increases the frequency, rate or extent of a circadian rhythm behavior." http://identifiers.org/hgnc/11916 -MONDO:0015477 "Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated." "Orphanet:155838 ICD10:Q18.8" +MONDO:0015477 "Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated." "ICD10CM:Q18.8 Orphanet:155838" HsapDv:0000109 "Adolescent stage that refers to an adolescent who is over 15 and under 16 years old." UBERON:0005754 UBERON:0003357 @@ -11361,22 +11358,22 @@ MONDO:0044796 "A nevus characterized by the presence of spindle-shaped melanocyt MONDO:0010075 "Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene." "OMIM:271640 Orphanet:93359 DOID:0112198" MONDO:0022200 CL:0000079 -MONDO:0011804 "Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." "DOID:0110116 GARD:0009796 ICD10:D47.9 Orphanet:275517 SCTID:722290008 OMIM:607271" +MONDO:0011804 "Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses." "DOID:0110116 GARD:0009796 ICD10CM:D47.9 Orphanet:275517 SCTID:722290008 OMIM:607271" http://identifiers.org/hgnc/12014 NCIT:C16149 MONDO:0000971 "A benign adipose tissue neoplasm of the chest wall." "NCIT:C6719 DOID:10200 SCTID:448270009 ICD9:214.8 UMLS:C1332932" MONDO:0008266 "Orphanet:93334 OMIM:174200 Orphanet:93335" HP:0009830 "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." "UMLS:C0031117 SNOMEDCT_US:42658009 SNOMEDCT_US:302226006 MSH:D010523 SNOMEDCT_US:386033004 UMLS:C0442874" MONDO:0009464 "OMIM:243110 UMLS:C1855735" -MONDO:0017787 "GARD:0002191 HGNC:1331 UMLS:CN203737 Orphanet:314 ICD10:L21.1 MESH:C535512" +MONDO:0017787 "ICD10CM:L21.1 GARD:0002191 HGNC:1331 UMLS:CN203737 Orphanet:314 MESH:C535512" NCBITaxon:120793 "PMID:9103630 PMID:1581195 PMID:30231956 PMID:8347508 GC_ID:11" -MONDO:0017521 "Orphanet:295140 ICD10:Q74.8" +MONDO:0017521 "Orphanet:295140 ICD10CM:Q74.8" NCBITaxon:112252 "GC_ID:1" http://identifiers.org/hgnc/14677 MONDO:0015124 "Orphanet:101954" UBERON:0011899 MONDO:0600025 "Fluid accumulation and dilatation of the fallopian tube due to tubal blockage." "NCIT:C142886" -MONDO:0002135 "A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve)." "ICD9:377.49 UMLS:C0029132 NCIT:C79698 SCTID:77157004 DOID:1891 MESH:D009901 ICD9:377.9" +MONDO:0002135 "A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve)." "ICD9:377.49 UMLS:C0029132 NCIT:C79698 SCTID:77157004 DOID:1891 MESH:D009901 ICD10CM:H46-H47 ICD9:377.9" CHEBI:33582 ECTO:9001695 "An exposure to nutrient." MONDO:0007901 "UMLS:C1835403 OMIM:151610 MESH:C563625" @@ -11395,9 +11392,9 @@ MONDO:0008000 "SCTID:37796009 ICD9:346.90 OMIM:157300 ICD9:346.80" MONDO:0004315 "An intrahepatic cholangiocarcinoma that arises from the canals of Hering." "NCIT:C41617 DOID:7642 UMLS:C1516490" MONDO:0017287 "A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased." "UMLS:C3203653 Orphanet:596448 GARD:0012521 NCIT:C95992 MedDRA:10071569 DOID:0080356 Orphanet:284264" MONDO:0006703 -MONDO:0019679 "Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features." "Orphanet:93397 UMLS:CN206603 GARD:0000984 ICD10:Q73.8 SCTID:720571006" +MONDO:0019679 "Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features." "Orphanet:93397 UMLS:CN206603 ICD10CM:Q73.8 GARD:0000984 SCTID:720571006" http://identifiers.org/hgnc/7856 -MONDO:0019024 "A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" "ICDO:9740/3 SCTID:118615008 NCIT:C9348 Orphanet:66661 ICD10:C96.2 EFO:1000364 ICD9:202.6 DOID:355 UMLS:C0036221 MESH:D012515 ONCOTREE:MCSL" +MONDO:0019024 "A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)" "ICDO:9740/3 SCTID:118615008 NCIT:C9348 Orphanet:66661 EFO:1000364 ICD9:202.6 ICD10CM:C96.2 DOID:355 UMLS:C0036221 MESH:D012515 ONCOTREE:MCSL" CHEBI:65001 "Any EC 3.1.1.* (carboxylic ester hydrolase) inhibitor that inhibits the action of triacylglycerol lipase (EC 3.1.1.3)." MONDO:0002168 "A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma." "UMLS:C1335688 NCIT:C5548 DOID:1995" http://identifiers.org/hgnc/17175 @@ -11411,13 +11408,13 @@ http://identifiers.org/hgnc/9154 MONDO:0007110 "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene." "UMLS:C2676137 Orphanet:124 OMIM:105650" MONDO:0016320 "UMLS:C2584620 Orphanet:217454" GO:0014046 "The regulated release of dopamine by a cell. Dopamine is a catecholamine and a precursor of adrenaline and noradrenaline. It acts as a neurotransmitter in the central nervous system but it is also produced peripherally and acts as a hormone." -MONDO:0011591 "A cataract that has material basis in variation in the region 9q13-q22." "OMIM:605749 ICD10:Q12.0 UMLS:C1854003 DOID:0110246 Orphanet:98984 Orphanet:91492 MESH:C565298" -MONDO:0000997 "A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze." "DOID:10293 ICD10:H50.01 UMLS:C0152204 MESH:D004948 ICD9:378.01 SCTID:5455000" -MONDO:0006602 "A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella." "EFO:1000757 ICD10:L56.5 ICD9:692.75 HP:0200044 OMIM:175800 OMIMPS:175800 SCTID:41495000 NCIT:C85019 ICD10:Q82.8 SCTID:400080004 ICD9:757.39 SCTID:80432009 UMLS:C0162839 Wikipedia:Porokeratosis DOID:3805 Orphanet:79358 MedDRA:10036175" +MONDO:0011591 "A cataract that has material basis in variation in the region 9q13-q22." "OMIM:605749 UMLS:C1854003 DOID:0110246 Orphanet:98984 Orphanet:91492 MESH:C565298" +MONDO:0000997 "A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze." "DOID:10293 UMLS:C0152204 MESH:D004948 ICD9:378.01 SCTID:5455000" +MONDO:0006602 "A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella." "EFO:1000757 ICD10CM:Q82.8 ICD9:692.75 HP:0200044 OMIM:175800 OMIMPS:175800 SCTID:41495000 NCIT:C85019 SCTID:400080004 ICD9:757.39 SCTID:80432009 UMLS:C0162839 Wikipedia:Porokeratosis DOID:3805 Orphanet:79358 MedDRA:10036175" CHEBI:52209 "A role played by the molecular entity or part thereof which causes the development of a pathological process." MONDO:0000550 "A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas." "NCIT:C48576 EFO:0000489 DOID:0050936 UMLS:C1257877" MONDO:0042969 "Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "MESH:C538300 GARD:0001926 UMLS:C0795846" -MONDO:0014708 "Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears." "SCTID:702345009 GARD:0006072 ICD9:758.89 OMIM:616606 Orphanet:1440 UMLS:CN233170 MESH:C535487 ICD10:Q93.2" +MONDO:0014708 "Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears." "SCTID:702345009 GARD:0006072 ICD9:758.89 OMIM:616606 ICD10CM:Q93.2 Orphanet:1440 UMLS:CN233170 MESH:C535487" GO:0016050 "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle." GO:0033013 "The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next." CL:1000296 "An epithelial cell that is part of the urethra." "FMA:256165" @@ -11427,17 +11424,17 @@ MONDO:0000587 "An autoimmune form of otorhinolaryngologic disease." "DOID:006003 CL:0000138 "Skeletogenic cell that is terminally differentiated, secretes an avascular, GAG-rich matrix, is embedded in cartilage tissue matrix, retains the ability to divide, and develops from a chondroblast cell." "BTO:0000249 FMA:66782 CALOHA:TS-0138" http://identifiers.org/hgnc/23094 UBERON:0003354 -MONDO:0012695 "Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene." "OMIM:611561 DOID:0070119 UMLS:C1969052 ICD10:Q61.9 MESH:C566915 Orphanet:564" +MONDO:0012695 "Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene." "OMIM:611561 DOID:0070119 UMLS:C1969052 MESH:C566915 Orphanet:564" MONDO:0003381 "A disease involving the pituitary gland." "ICD9:253.1 DOID:53 MESH:D010900 ICD9:253.9 SCTID:399244003 NCIT:C26854 ICD9:253.8" -MONDO:0005296 "A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep." "MESH:D012891 HP:0010535 ICD9:780.57 DOID:0050847 SCTID:73430006 ICD10:G47.3 SCTID:111489007 EFO:0003877 NCIT:C148023 NCIT:C26884" +MONDO:0005296 "A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep." "MESH:D012891 HP:0010535 ICD9:780.57 DOID:0050847 SCTID:73430006 SCTID:111489007 EFO:0003877 NCIT:C148023 ICD10CM:G47.3 NCIT:C26884" MONDO:0025139 "A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)" "UMLS:C0043153 MESH:D014912" CL:0000313 "Columnar glandular cell with irregular nucleus, copious granular endoplasmic reticulum and supranuclear granules. Secretes a watery fluid containing proteins known as serous fluid." "FMA:62511 BTO:0003687" MONDO:0016585 MONDO:0022205 "GARD:0012813 SCTID:200973000 UMLS:C0152081 MEDGEN:508876 ICD9:696.1" CL:0000076 "CALOHA:TS-1249" -MONDO:0007969 "The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected." "MESH:D008556 ICD10:G51.2 DOID:1761 UMLS:C0025235 OMIM:155900 MedDRA:10027166 NCIT:C84886 GARD:0007010 Orphanet:2483 EFO:1001039" +MONDO:0007969 "The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected." "MESH:D008556 DOID:1761 UMLS:C0025235 OMIM:155900 MedDRA:10027166 NCIT:C84886 GARD:0007010 Orphanet:2483 EFO:1001039" http://identifiers.org/hgnc/18374 -MONDO:0008199 "A Parkinson disease that begins after around the age of 50." "SCTID:716662004 OMIM:607688 OMIM:607060 OMIM:168601 ICD10:G20 DOID:0060892 OMIM:605543 OMIM:168600 OMIM:614203 OMIM:614251 Orphanet:411602 UMLS:C3160718 OMIM:616361" +MONDO:0008199 "A Parkinson disease that begins after around the age of 50." "ICD10CM:G20 UMLS:C3160718 OMIM:168601 OMIM:607688 OMIM:616361 Orphanet:411602 SCTID:716662004 OMIM:607060 OMIM:168600 OMIM:614203 DOID:0060892 OMIM:614251 OMIM:605543" MONDO:0024320 "A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma." "UMLS:C1512779 NCIT:C39784" UBERON:2001544 GO:0015136 "Enables the transfer of sialic acid from one side of a membrane to the other." @@ -11451,86 +11448,86 @@ NCBITaxon:188543 "GC_ID:1" MONDO:0019081 UBERON:0003353 MONDO:0020697 "A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative." "NCIT:C45545" -MONDO:0006903 "Paralysis of the nerves located in the legs." "ICD10:G57.3 SCTID:399088004 MedDRA:10033828 EFO:1001102 DOID:6925 NCIT:C27061 UMLS:C0270810" +MONDO:0006903 "Paralysis of the nerves located in the legs." "SCTID:399088004 MedDRA:10033828 EFO:1001102 DOID:6925 NCIT:C27061 UMLS:C0270810" MONDO:0001874 "A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic." "UMLS:C0155507 EFO:0006951 ICD9:386.34 SCTID:9062008 DOID:14081 SCTID:3344003" http://identifiers.org/hgnc/11919 -MONDO:0009202 "UMLS:C2931219 ICD10:Q87.8 OMIM:227255 GARD:0005158 Orphanet:1780" +MONDO:0009202 "UMLS:C2931219 OMIM:227255 ICD10CM:Q87.8 GARD:0005158 Orphanet:1780" http://identifiers.org/hgnc/26690 -MONDO:0017783 "Orphanet:313906 ICD10:Q45.2 SCTID:204808002" +MONDO:0017783 "ICD10CM:Q45.2 Orphanet:313906 SCTID:204808002" UBERON:0004552 http://identifiers.org/hgnc/16812 MONDO:0015120 "Orphanet:101949 UMLS:CN197477" -MONDO:0016309 "UMLS:CN201115 Orphanet:216981 ICD10:E75.2" +MONDO:0016309 "UMLS:CN201115 Orphanet:216981 ICD10CM:E75.2" http://identifiers.org/hgnc/19331 -MONDO:0005645 "Infection by hookworms of the genus Ancylostoma." "SCTID:63479002 MedDRA:10002255 GARD:0009742 ICD10:B76.1 EFO:0007145 DOID:12841 UMLS:C0002831 MESH:D000724 ICD9:126.9 ICD10:B76.8 MedDRA:10020376 ICD10:B76.0 NCIT:C35805 ICD9:126.8 Orphanet:78 ICD10:B76.9" +MONDO:0005645 "Infection by hookworms of the genus Ancylostoma." "ICD10CM:B76.0 MedDRA:10002255 SCTID:63479002 ICD10CM:B76.1 DOID:12841 MESH:D000724 GARD:0009742 ICD10CM:B76.9 ICD9:126.9 UMLS:C0002831 ICD10CM:B76.8 ICD9:126.8 EFO:0007145 NCIT:C35805 Orphanet:78 MedDRA:10020376" MONDO:0010207 "OMIM:278200 Orphanet:1409 MESH:C536746 SCTID:239023005 GARD:0005594" CL:1000275 "A smooth muscle cell that is part of the small intestine." "FMA:15050" -MONDO:0020054 "Orphanet:98142 ICD10:Q93.4 ICD10:Q93.5 ICD10:Q93.3" +MONDO:0020054 "ICD10CM:Q93.5 ICD10CM:Q93.4 Orphanet:98142 ICD10CM:Q93.3" MONDO:0000887 MONDO:0018704 MONDO:0011404 "OMIM:604172" GO:0051704 "A biological process which involves another organism of the same or different species." http://identifiers.org/hgnc/20582 MONDO:0006758 "Mycobacterium infections of the female reproductive tract (genitalia, female)." "MedDRA:10061150 MESH:D014384 SCTID:74181004 EFO:1000935" -MONDO:0017337 "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands." "SCTID:764960005 Orphanet:289548 ICD10:E27.1" -MONDO:0005979 "A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip." "Orphanet:97330 EFO:0007507 MESH:D013901 SCTID:2040007 DOID:3103 UMLS:C0039984 ICD10:G54.0 SCTID:128210009 MedDRA:10048627 NCIT:C85188" +MONDO:0017337 "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands." "SCTID:764960005 Orphanet:289548 ICD10CM:E27.1" +MONDO:0005979 "A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip." "ICD10CM:G54.0 Orphanet:97330 EFO:0007507 MESH:D013901 SCTID:2040007 DOID:3103 UMLS:C0039984 SCTID:128210009 MedDRA:10048627 NCIT:C85188" MONDO:0012322 "Holoprosencephaly associated with mutations in the ZIC2 gene." "OMIM:609637 MESH:C566464 DOID:0110878 UMLS:C1864827 Orphanet:2162 NCIT:C75460" -MONDO:0019901 "ICD10:Q93.5 Orphanet:96164" +MONDO:0019901 "Orphanet:96164 ICD10CM:Q93.5" MONDO:0012601 "OMIM:611016" SO:0000946 "A region specifically recognised by a recombinase, which inserts or removes another region marked by a distinct cognate integration/excision site." MONDO:0021386 "A neoplasm (disease) that involves the mediastinum." "ICD9:239.89 NCIT:C3221 SCTID:126725000" -MONDO:0016308 "Orphanet:216978 UMLS:CN201114 ICD10:E75.2" +MONDO:0016308 "Orphanet:216978 ICD10CM:E75.2 UMLS:CN201114" NCBITaxon:85004 "PMID:27446019 PMID:19244447 GC_ID:11" -MONDO:0011018 "An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition." "GARD:0005478 Orphanet:2899 OMIM:601216 DOID:0090143 SCTID:716195006 GARD:5478 ICD10:Q76.3" -MONDO:0020055 "ICD10:Q99.8 Orphanet:98152 UMLS:CN229262" +MONDO:0011018 "An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition." "GARD:0005478 ICD10CM:Q76.3 Orphanet:2899 OMIM:601216 DOID:0090143 SCTID:716195006 GARD:5478" +MONDO:0020055 "ICD10CM:Q99.8 Orphanet:98152 UMLS:CN229262" MONDO:0000886 CHEBI:35724 CHEBI:33327 MONDO:0018705 "UMLS:CN242083 Orphanet:457205" -MONDO:0012526 "Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "MESH:D056828 Orphanet:100054 SCTID:427167008 ICD9:277.6 Orphanet:91378 ICD10:D84.1 OMIM:610618" +MONDO:0012526 "Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "MESH:D056828 ICD10CM:D84.1 Orphanet:100054 SCTID:427167008 ICD9:277.6 Orphanet:91378 OMIM:610618" ENVO:21001216 "A radiation process during which electromagnetic waves or their quanta are emitted at wavelengths between 10 nm and 400 nm." -MONDO:0009532 "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip." "DOID:0060469 SCTID:253148005 GARD:0003669 NCIT:C124852 UMLS:C0265219 Orphanet:531 ICD10:Q04.3 OMIM:247200 MedDRA:10068361 ICD9:758.33" +MONDO:0009532 "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip." "DOID:0060469 SCTID:253148005 GARD:0003669 NCIT:C124852 UMLS:C0265219 Orphanet:531 ICD10CM:Q04.3 OMIM:247200 MedDRA:10068361 ICD9:758.33" http://identifiers.org/hgnc/20581 MONDO:0000688 "An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage." "UMLS:C1263739 Orphanet:289899 ICD9:277.89 GARD:0009433 DOID:0060159 NCIT:C101334" http://identifiers.org/hgnc/12298 -MONDO:0018342 "Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes." "OMIM:615636 SCTID:733418003 OMIM:616546 ICD10:Q04.3 UMLS:CN225944 Orphanet:397715 UMLS:C4518774" -MONDO:0019395 "Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits." "UMLS:C1997362 Orphanet:84085 SCTID:429233001 ICD9:596.59 UMLS:CN206094 ICD10:N32.8" -MONDO:0019900 "Orphanet:96160 ICD10:Q93.5" -MONDO:0010283 "Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." "MESH:C537723 ICD10:Q87.8 ICD10:Q99.8 NCIT:C126747 OMIM:300815 ICD9:758.89 OMIM:300260 Orphanet:1762 GARD:0009781 SCTID:702816000 UMLS:C1846058 DOID:0060799" -MONDO:0003125 "A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." "DOID:4757 ICD10:C62.1 UMLS:C3840076 SCTID:702406000 Orphanet:363489 UMLS:CN204701 NCIT:C6358" +MONDO:0018342 "Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes." "OMIM:615636 SCTID:733418003 OMIM:616546 UMLS:CN225944 ICD10CM:Q04.3 Orphanet:397715 UMLS:C4518774" +MONDO:0019395 "Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits." "UMLS:C1997362 Orphanet:84085 SCTID:429233001 ICD9:596.59 UMLS:CN206094 ICD10CM:N32.8" +MONDO:0019900 "Orphanet:96160 ICD10CM:Q93.5" +MONDO:0010283 "Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." "ICD10CM:Q99.8 MESH:C537723 NCIT:C126747 OMIM:300815 ICD9:758.89 OMIM:300260 Orphanet:1762 GARD:0009781 SCTID:702816000 UMLS:C1846058 DOID:0060799" +MONDO:0003125 "A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group." "ICD10CM:C62.1 DOID:4757 UMLS:C3840076 SCTID:702406000 Orphanet:363489 UMLS:CN204701 NCIT:C6358" GO:0048240 "A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium." MONDO:0010205 "MESH:C564736 UMLS:C1848436 OMIM:278100" -MONDO:0003482 "A infectious disease involving the Pediculus humanus corporis." "SCTID:25188002 DOID:5513 ICD10:B85.1 UMLS:C0030758 ICD9:132.1" +MONDO:0003482 "A infectious disease involving the Pediculus humanus corporis." "SCTID:25188002 DOID:5513 UMLS:C0030758 ICD9:132.1" CL:0002536 "An epithelial cell that is part of the amnion." -MONDO:0016307 "ICD10:E75.2 Orphanet:216975 UMLS:CN201113" +MONDO:0016307 "ICD10CM:E75.2 Orphanet:216975 UMLS:CN201113" http://identifiers.org/hgnc/11098 GO:0014051 "The regulated release of gamma-aminobutyric acid by a cell or a tissue. The gamma-aminobutyric acid is the principal inhibitory neurotransmitter in the brain but is also found in several extraneural tissues." -MONDO:0020056 "ICD10:Q99.8 SCTID:726401004 Orphanet:98153" +MONDO:0020056 "SCTID:726401004 ICD10CM:Q99.8 Orphanet:98153" MONDO:0000885 UBERON:0003350 -MONDO:0020304 "Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization." "ICD10:Q98.6 Orphanet:98797 SCTID:766708008" +MONDO:0020304 "Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization." "Orphanet:98797 SCTID:766708008 ICD10CM:Q98.6" GO:0040008 "Any process that modulates the frequency, rate or extent of the growth of all or part of an organism so that it occurs at its proper speed, either globally or in a specific part of the organism's development." -MONDO:0015109 "Orphanet:101932 ICD10:Q23.8" +MONDO:0015109 "ICD10CM:Q23.8 Orphanet:101932" MONDO:0009219 "SCTID:399948007 ICD9:709.8 MESH:C563219 Orphanet:2833 OMIM:228020" -MONDO:0016107 "An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies." "Orphanet:206647 ICD9:359.2 SCTID:240104008 MedDRA:10068871 GARD:0010419 UMLS:C0027126 DOID:450 NCIT:C84914 MESH:D009223 ICD10:G71.1 OMIMPS:160900" -MONDO:0017504 "Orphanet:295105 ICD10:Q72.3" +MONDO:0016107 "An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies." "Orphanet:206647 ICD10CM:G71.1 ICD9:359.2 SCTID:240104008 MedDRA:10068871 GARD:0010419 UMLS:C0027126 DOID:450 NCIT:C84914 MESH:D009223 OMIMPS:160900" +MONDO:0017504 "ICD10CM:Q72.3 Orphanet:295105" MONDO:0011407 "Orphanet:306530 OMIM:604185 UMLS:C1858717" GO:0000224 "Catalysis of the reaction: 4-N-(N-acetyl-D-glucosaminyl)-protein + H2O = N-acetyl-beta-D-glucosaminylamine + peptide L-aspartate. This reaction is the hydrolysis of an N4-(acetyl-beta-D-glucosaminyl)asparagine residue in which the N-acetyl-D-glucosamine residue may be further glycosylated, to yield a (substituted) N-acetyl-beta-D-glucosaminylamine and the peptide containing an aspartic residue." HP:0007360 "UMLS:C3279222" CHEBI:37022 -MONDO:0010949 "Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." "MESH:C537989 GARD:0009192 Orphanet:99936 SCTID:717008005 OMIM:600882 DOID:0110159 UMLS:C1833219 ICD10:G60.0" +MONDO:0010949 "Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." "MESH:C537989 GARD:0009192 Orphanet:99936 SCTID:717008005 ICD10CM:G60.0 OMIM:600882 DOID:0110159 UMLS:C1833219" GO:1905881 "Any process that activates or increases the frequency, rate or extent of oogenesis." GO:0036161 "The regulated release of calcitonin, a peptide hormone that participates in calcium and phosphorus metabolism, from a cell." -MONDO:0020057 "ICD10:Q99.8 Orphanet:98154 SCTID:726402006" -MONDO:0016306 "ICD10:E75.2 UMLS:CN201112 Orphanet:216972" +MONDO:0020057 "Orphanet:98154 SCTID:726402006 ICD10CM:Q99.8" +MONDO:0016306 "UMLS:CN201112 ICD10CM:E75.2 Orphanet:216972" NCBITaxon:85006 "PMID:11837321 GC_ID:11 PMID:19244447 PMID:19542112 PMID:20190019 PMID:30186281" MONDO:0011843 "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene." "OMIM:607487 MESH:C564388 DOID:0110328 UMLS:C1843791" -MONDO:0018703 "ICD10:Q89.0 Orphanet:457083 UMLS:CN242095" +MONDO:0018703 "ICD10CM:Q89.0 Orphanet:457083 UMLS:CN242095" MONDO:0000884 "NCIT:C84277 DOID:0080167" MONDO:0003380 GO:0010927 "The cellular component assembly that is part of the initial shaping of the component during its developmental progression." http://identifiers.org/hgnc/10998 -MONDO:0017505 "Orphanet:295107 ICD10:Q72.3" +MONDO:0017505 "ICD10CM:Q72.3 Orphanet:295107" MONDO:0011406 "SCTID:232262007 MESH:C562858 OMIM:604183" GO:0040016 "The first few specialized divisions of an activated animal egg." MONDO:0013803 "MESH:C000598644 UMLS:C3281200 OMIM:614561 Orphanet:542310" @@ -11538,11 +11535,11 @@ MONDO:0019069 UBERON:0035608 CL:0002293 "An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies." "CALOHA:TS-1040 FMA:72208" MONDO:0011839 "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene." "OMIM:607476 DOID:0111015 UMLS:C1843815 MESH:C564391" -MONDO:0018097 "West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development." "OMIM:616139 OMIM:308350 Orphanet:3451 UMLS:C0037769 ICD9:345.60 NCIT:C84788 OMIM:613722 OMIM:617065 SCTID:28055006 GARD:0007887 OMIM:613477 OMIM:300672 ICD9:348.89 OMIM:616341 DOID:0050562 MedDRA:10021750 OMIM:615006 ICD10:G40.4" -MONDO:0015941 "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992." "SCTID:766870005 Orphanet:1825 ICD10:Q87.0 GARD:0002178 UMLS:CN200532" +MONDO:0018097 "West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development." "OMIM:616139 OMIM:308350 Orphanet:3451 UMLS:C0037769 ICD9:345.60 NCIT:C84788 ICD10CM:G40.4 OMIM:613722 OMIM:617065 SCTID:28055006 GARD:0007887 OMIM:613477 OMIM:300672 ICD9:348.89 OMIM:616341 DOID:0050562 MedDRA:10021750 OMIM:615006" +MONDO:0015941 "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992." "SCTID:766870005 ICD10CM:Q87.0 Orphanet:1825 GARD:0002178 UMLS:CN200532" http://identifiers.org/hgnc/15894 GO:0002366 "A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response." -MONDO:0016305 "UMLS:CN201110 ICD10:G23.0 Orphanet:216873" +MONDO:0016305 "UMLS:CN201110 ICD10CM:G23.0 Orphanet:216873" MONDO:0018966 UBERON:0016538 MONDO:0018700 "Orphanet:457062" @@ -11551,34 +11548,34 @@ MONDO:0012606 "OMIM:611046" NCBITaxon:85007 "PMID:19244447 PMID:11837321 PMID:31157615 PMID:1736962 GC_ID:11 PMID:30186281" MONDO:0020050 "NCIT:C3421 Orphanet:98130 ICD9:758.5 SCTID:429442006 GARD:0006065 UMLS:C1996945" CL:1000405 "An epithelial cell that is part of the appendix." "FMA:63602" -MONDO:0014168 "DOID:0060019 Orphanet:228003 UMLS:C3809383 ICD10:D81.2 OMIM:615401" +MONDO:0014168 "DOID:0060019 Orphanet:228003 UMLS:C3809383 ICD10CM:D81.2 OMIM:615401" MONDO:0000883 MONDO:0002606 "An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia." "UMLS:C1333426 DOID:3318 NCIT:C38151" CL:0002680 "A PP cell found in intestine." MONDO:0011409 "OMIM:604201" -MONDO:0016654 "Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges)." "Orphanet:251043 SCTID:765487008 GARD:0010841 NCIT:C121984 ICD10:Q93.2 UMLS:C4050064" +MONDO:0016654 "Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges)." "Orphanet:251043 SCTID:765487008 GARD:0010841 NCIT:C121984 ICD10CM:Q93.2 UMLS:C4050064" MONDO:0013804 -MONDO:0017502 "Orphanet:295101 ICD10:Q71.3" +MONDO:0017502 "Orphanet:295101 ICD10CM:Q71.3" MONDO:0004476 "OBSOLETE. A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." MONDO:0021255 MONDO:0005003 "A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus." "SCTID:235494005 OMIM:167800 NCIT:C84637 EFO:0000342 ICD9:577.1 OMIM:608189 UMLS:C0149521 MESH:D050500" MONDO:0002515 "A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma." "UMLS:C0267792 NCIT:C3959 DOID:3118" MONDO:0023646 "Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy." "UMLS:C0406500 SCTID:410016009 GARD:0009671 MESH:C537026" MONDO:0005499 "A malignant glioma that involves the brain." "OMIM:613028 OMIM:613029 NCIT:C4822 SCTID:254937005 EFO:0005543 DOID:0060108 UMLS:C0349661" -MONDO:0018381 "A condition that is characterized by defective bone growth that affects the growth centers of bone." "NCIT:C34879 ICD10:M92 GARD:0012704 UMLS:C0029429 Orphanet:399319 DOID:8125 ICD10:M93.9 MESH:D055034 ICD9:732.6 ICD10:M42 EFO:0008575 SCTID:19579005" -MONDO:0016092 "Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation." "ICD10:D27 Orphanet:206470" +MONDO:0018381 "A condition that is characterized by defective bone growth that affects the growth centers of bone." "NCIT:C34879 SCTID:19579005 GARD:0012704 UMLS:C0029429 Orphanet:399319 DOID:8125 ICD10CM:M42 ICD10CM:M93.9 MESH:D055034 ICD9:732.6 EFO:0008575" +MONDO:0016092 "Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation." "ICD10CM:D27 Orphanet:206470" FOODON:00001907 ENVO:01000017 "A naturally occurring granular material composed of finely divided rock and mineral particles." MONDO:0042726 "MESH:C537722 GARD:0000174 UMLS:C2931598" GO:0045933 "Any process that activates or increases the frequency, rate or extent of muscle contraction." MONDO:0002180 -MONDO:0012081 "The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." "ICD10:Q92.3 UMLS:C2675336 SCTID:719427001 UMLS:C4304726 NCIT:C126692 OMIM:608636 Orphanet:238446" +MONDO:0012081 "The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown." "UMLS:C2675336 SCTID:719427001 UMLS:C4304726 NCIT:C126692 OMIM:608636 Orphanet:238446" HP:0008776 "Any structural abnormality of the renal artery." "UMLS:C4024624" MONDO:0003632 "Inflammation of the endocervix." "SCTID:31354001 DOID:5757 UMLS:C0014127 NCIT:C26762" -MONDO:0018967 "OMIM:307200 ICD10:E23.0 Orphanet:632" +MONDO:0018967 "ICD10CM:E23.0 OMIM:307200 Orphanet:632" ENVO:01001813 "A material entity which has been assembled through the intentional, instinctual, or deliberately programmed efforts of an organism or machine." MONDO:0019022 "Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor." "UMLS:CN205488 Orphanet:66633" -MONDO:0016304 "ICD10:G23.0 UMLS:CN201109 Orphanet:216866" +MONDO:0016304 "ICD10CM:G23.0 UMLS:CN201109 Orphanet:216866" MONDO:0018701 "Orphanet:457074" MONDO:0019063 "Orphanet:68419" MONDO:0020051 "Orphanet:98131" @@ -11587,14 +11584,14 @@ ECTO:3000000 "A history of exposure to root." HP:0000768 "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." "UMLS:C0158731 MSH:D066166 SNOMEDCT_US:205101001" MONDO:0003248 "A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults." "DOID:5031 UMLS:C0280794 NCIT:C8273" MONDO:0017769 "Orphanet:310050" -MONDO:0017503 "Orphanet:295103 ICD10:Q71.3 SCTID:371189003" +MONDO:0017503 "ICD10CM:Q71.3 Orphanet:295103 SCTID:371189003" MONDO:0015106 "UMLS:CN197464 Orphanet:101433" http://identifiers.org/hgnc/11937 http://identifiers.org/hgnc/17192 MONDO:0014805 "A neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging. The cause of the disease is a mutation in the USP7 gene." "Orphanet:500055 UMLS:C4225667 OMIM:616863" GO:0048241 "The directed movement of epinephrine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." UBERON:0016536 -MONDO:0016303 "Orphanet:216729 ICD10:Q20.3" +MONDO:0016303 "Orphanet:216729 ICD10CM:Q20.3" MONDO:0016569 CL:0001054 "A monocyte that expresses CD14 and is negative for the lineage markers CD3, CD19, and CD20." MONDO:0006212 "A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003" "NCIT:C27878 EFO:1000259" @@ -11605,20 +11602,20 @@ http://identifiers.org/hgnc/20580 MONDO:0015105 MONDO:0013806 "UMLS:C3281203 Orphanet:313846 OMIM:614564" http://identifiers.org/hgnc/12033 -MONDO:0017766 "Orphanet:309851 ICD10:E83.8 UMLS:CN227208" +MONDO:0017766 "Orphanet:309851 ICD10CM:E83.8 UMLS:CN227208" http://identifiers.org/hgnc/952 MONDO:0014137 "Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene." "OMIM:615346 UMLS:C3809199 Orphanet:759" -MONDO:0017500 "Orphanet:295097 ICD10:Q72.2" +MONDO:0017500 "Orphanet:295097 ICD10CM:Q72.2" http://identifiers.org/hgnc/11936 MONDO:0009024 "This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly." "GARD:0001548 MESH:C565674 UMLS:C1857568 Orphanet:1389 OMIM:218010" -MONDO:0019625 "A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture." "OMIM:610168 SCTID:45894003 UMLS:C0392775 OMIMPS:607086 Orphanet:229 OMIM:615582 ICD9:447.9 OMIM:614816 OMIM:617168 ICD10:I71.0 OMIM:616166 OMIM:607087 GARD:0002249 UMLS:CN118826 OMIM:132900 OMIM:611788 ICD10:Q87.4 Orphanet:91387 OMIM:607086 GARD:0001654 SCTID:764965000 OMIM:615436 OMIM:613780 OMIM:609192" +MONDO:0019625 "A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture." "OMIM:610168 ICD10CM:I71.0 SCTID:45894003 UMLS:C0392775 OMIMPS:607086 Orphanet:229 OMIM:615582 ICD9:447.9 OMIM:614816 ICD10CM:Q87.4 OMIM:617168 OMIM:616166 OMIM:607087 GARD:0002249 UMLS:CN118826 OMIM:132900 OMIM:611788 Orphanet:91387 OMIM:607086 GARD:0001654 SCTID:764965000 OMIM:615436 OMIM:613780 OMIM:609192" MONDO:0000880 http://identifiers.org/hgnc/11934 MONDO:0042724 "GARD:0000172" GO:0034641 "The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells." MONDO:0004465 "An adenocarcinoma that arises from the periampullary region." "NCIT:C27322 UMLS:C1335377 DOID:8110" -MONDO:0020053 "Orphanet:98141 ICD10:Q93.1 ICD10:Q93.0" -MONDO:0016302 "ICD10:Q20.3 Orphanet:216718" +MONDO:0020053 "Orphanet:98141 ICD10CM:Q93.0 ICD10CM:Q93.1" +MONDO:0016302 "ICD10CM:Q20.3 Orphanet:216718" GO:0005381 "Enables the transfer of iron (Fe) ions from one side of a membrane to the other." CHEBI:35722 MONDO:0005750 "An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness." "EFO:0007258 MESH:D004810 UMLS:C0014481" @@ -11626,12 +11623,12 @@ GO:0010512 "Any process that decreases the frequency, rate or extent of the chem http://identifiers.org/hgnc/18391 MONDO:0021252 http://identifiers.org/hgnc/951 -MONDO:0017501 "Orphanet:295099 ICD10:Q72.23 ICD10:Q72.2" +MONDO:0017501 "ICD10CM:Q72.23 Orphanet:295099 ICD10CM:Q72.2" http://identifiers.org/hgnc/11935 GO:0005179 "The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process." HP:0007367 "UMLS:C4024899" UBERON:0016534 -MONDO:0018680 "A pseudolymphoma of the skin." "SCTID:128862000 ICD10:L98.6 NCIT:C62776 UMLS:C0311220 Orphanet:451607" +MONDO:0018680 "A pseudolymphoma of the skin." "SCTID:128862000 ICD10CM:L98.6 NCIT:C62776 UMLS:C0311220 Orphanet:451607" MONDO:0003123 MONDO:0004707 "A carcinoma in situ involving a anal canal." "ICD9:230.5 DOID:9087 SCTID:92531006 UMLS:C0154064 NCIT:C7794 ICD9:230.6 UMLS:C2242854" MONDO:0010953 "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2." "NCIT:C125709 DOID:0111084 UMLS:C3160739 OMIM:600901" @@ -11641,11 +11638,11 @@ HP:0001249 "Subnormal intellectual functioning which originates during the devel ENVO:01001780 "An ecosystem in which the composition, structure, and function of resident ecological assemblages are primarily determined by a desert." http://identifiers.org/hgnc/10993 http://identifiers.org/hgnc/950 -MONDO:0041526 "SCTID:363681007 ICD10:O00.O08" +MONDO:0041526 "SCTID:363681007 ICD10CM:O00-O08" GO:0100018 "OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates glucose import." MONDO:0037736 "A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli." "NCIT:C3139" -MONDO:0017855 "T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." "Orphanet:317419 ICD10:D81.1" -MONDO:0012063 "Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." "OMIM:608571 ICD10:Q73.8 MESH:C563905 Orphanet:52056 SCTID:719843001" +MONDO:0017855 "T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." "Orphanet:317419" +MONDO:0012063 "Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." "OMIM:608571 ICD10CM:Q73.8 MESH:C563905 Orphanet:52056 SCTID:719843001" GO:0071704 "The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon." MONDO:0003911 "A mixed cell uveal melanoma that involves the ciliary body." "UMLS:C1333051 DOID:6523 NCIT:C35783" CL:0000454 "A cell capable of producing epinephrine. Epiniphrine is synthesized from norepiniphrine by the actions of the phenylethanolamine N-methyltransferase enzyme, which is expressed in the adrenal glands, androgenic neurons, and in other cell types." @@ -11655,7 +11652,7 @@ MONDO:0043087 "MESH:C536511 UMLS:C2931222 GARD:0002034" ECTO:7000063 "A exposure event involving the interaction of an exposure receptor to liquid water." CL:0002366 "A smooth muscle cell of the myometrium that enlarges and stretches during pregnancy, and contracts in response to oxytocin." "BTO:0004519" HP:0009125 "Degenerative changes of the fat tissue." "SNOMEDCT_US:71325002 UMLS:C0023787 MSH:D008060" -MONDO:0014419 "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease." "ICD10:G11.1 Orphanet:370022 OMIM:615960 UMLS:C4014821" +MONDO:0014419 "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease." "ICD10CM:G11.1 Orphanet:370022 OMIM:615960 UMLS:C4014821" UBERON:0016535 CHEBI:41609 NCBITaxon:52651 "GC_ID:1" @@ -11666,11 +11663,11 @@ MONDO:0010754 "Van den Bosch syndrome is characterized by intellectual deficit, ENVO:00002982 "A group of hydrous aluminium phyllosilicate (phyllosilicates being a subgroup of silicate minerals) minerals (see clay minerals), that are typically less than 2 micrometres in diameter. Clay consists of a variety of phyllosilicate minerals rich in silicon and aluminium oxides and hydroxides which include variable amounts of structural water." MONDO:0014552 "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise." "Orphanet:439897 OMIM:616258 UMLS:C4015701" UBERON:0019294 -MONDO:0015450 "A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities." "NCIT:C84651 SCTID:55510008 GARD:0006194 Orphanet:1463 ICD10:Q24.2 ICD9:746.82" -MONDO:0009760 "Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation." "UMLS:C0796089 Orphanet:89844 ICD10:Q04.3 OMIM:257320 GARD:0003277 DOID:0060902 SCTID:717977003" +MONDO:0015450 "A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities." "NCIT:C84651 SCTID:55510008 GARD:0006194 Orphanet:1463 ICD9:746.82" +MONDO:0009760 "Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation." "ICD10CM:Q04.3 Orphanet:89844 UMLS:C0796089 OMIM:257320 GARD:0003277 DOID:0060902 SCTID:717977003" ENVO:01000023 "The marine pelagic biome (pelagic meaning open sea) is that of the marine water column, from the surface to the greatest depths." GO:0002281 "A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response." -MONDO:0010209 "A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." "SCTID:72682008 Orphanet:3467 OMIM:278300 GARD:0005621 MESH:C562584 Orphanet:93601 ICD10:E79.8" +MONDO:0010209 "A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." "SCTID:72682008 Orphanet:3467 OMIM:278300 GARD:0005621 MESH:C562584 ICD10CM:E79.8 Orphanet:93601" NCBITaxon:11741 MONDO:0012860 "MESH:C567353 OMIM:612304 Orphanet:745 GARD:0013041 UMLS:C2676759" MONDO:0044919 "A primary or metastatic malignant neoplasm that affects the renal pelvis." "NCIT:C7525" @@ -11679,23 +11676,23 @@ MONDO:0007081 MONDO:0013710 "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene." "DOID:0070272 OMIM:614350 Orphanet:144 UMLS:C1833477 MESH:C563456" MONDO:0500000 "A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns." "GARD:0013029" MONDO:0044283 "OMIM:615457" -MONDO:0011664 "UMLS:C1853392 Orphanet:169100 MESH:C565232 OMIM:606367 ICD10:D81.2" -MONDO:0012088 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene." "ICD10:Q34.8 MESH:C563886 OMIM:608647 DOID:0110617 UMLS:C1837615" +MONDO:0011664 "UMLS:C1853392 Orphanet:169100 ICD10CM:D81.2 MESH:C565232 OMIM:606367" +MONDO:0012088 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene." "MESH:C563886 OMIM:608647 DOID:0110617 UMLS:C1837615" MONDO:0006483 "A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract." "UMLS:C1275859 EFO:1000611 NCIT:C39856" NCBITaxon:68336 "GC_ID:11" -MONDO:0020553 "Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography" "ICD10:E83.1+ Orphanet:99930 UMLS:C4274326 SCTID:716712004 ICD10:J99.8*" +MONDO:0020553 "Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography" "ICD10EXP:J99.8* Orphanet:99930 UMLS:C4274326 SCTID:716712004 ICD10EXP:E83.1+" MONDO:0000373 "A carcinoma in situ involving a gall bladder." "DOID:0050612" -MONDO:0017215 "Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition." "MedDRA:10051714 MESH:D002115 DOID:4734 NCIT:C84607 Orphanet:280062 SCTID:237900002 ICD10:E83.5 GARD:0005980 UMLS:C0006666 ICD9:275.49" +MONDO:0017215 "Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition." "MedDRA:10051714 MESH:D002115 DOID:4734 NCIT:C84607 Orphanet:280062 SCTID:237900002 GARD:0005980 UMLS:C0006666 ICD10CM:E83.5 ICD9:275.49" GO:0071695 "A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state." CHEBI:38032 "A carbopolyclic compound comprising of three carbocyclic rings." MONDO:0007082 "Orphanet:700 Orphanet:701 UMLS:C0263505 UMLS:C1863094 OMIM:104000" MONDO:0043085 "GARD:0001878 MESH:C538085 UMLS:CN035970" -MONDO:0007085 "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant." "GARD:0000607 Orphanet:1008 ICD10:Q87.8 OMIM:104130 UMLS:C1863090 MESH:C537057 SCTID:720980004" +MONDO:0007085 "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant." "GARD:0000607 Orphanet:1008 OMIM:104130 UMLS:C1863090 MESH:C537057 ICD10CM:Q87.8 SCTID:720980004" NCBITaxon:302011 "PMID:15766388 GC_ID:11" MONDO:0001826 http://identifiers.org/hgnc/1748 -MONDO:0017353 "Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." "UMLS:C0751748 ICD10:E72.5 Orphanet:289857" -MONDO:0010165 "Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." "UMLS:C2931370 UMLS:C1848650 GARD:0005398 Orphanet:2249 OMIM:276821 MESH:C564757 ICD10:Q87.2" +MONDO:0017353 "Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." "ICD10CM:E72.5 UMLS:C0751748 Orphanet:289857" +MONDO:0010165 "Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." "UMLS:C2931370 ICD10CM:Q87.2 UMLS:C1848650 GARD:0005398 Orphanet:2249 OMIM:276821 MESH:C564757" FOODON:03411081 "*Penaeidae* is a family of marine crustacean in the suborder *Dendrobranchiata*, which are often referred to as penaeid shrimp or penaeid prawn. It contains many species of economic importance, such as the tiger prawn, whiteleg shrimp, Atlantic white shrimp and Indian prawn. Many prawns are the subject of commercial fishery, and farming, both in marine settings, and in freshwater farms. [https://en.wikipedia.org/wiki/Penaeidae]"@en GO:0010453 "Any process that modulates the frequency, rate or extent of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field." http://identifiers.org/hgnc/29174 @@ -11709,87 +11706,87 @@ MONDO:0002123 "Deposition of calcium in the tissues. It may be the result of a m http://identifiers.org/hgnc/10990 MONDO:0012862 "OMIM:612311" MONDO:0025135 "A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells." "UMLS:C0041306 EFO:1001440 MESH:D014379" -MONDO:0017846 "Autosomal dominant form of spastic ataxia." "UMLS:CN229111 Orphanet:316235 ICD10:G11.4" +MONDO:0017846 "Autosomal dominant form of spastic ataxia." "UMLS:CN229111 ICD10CM:G11.4 Orphanet:316235" MONDO:0003385 PATO:0000117 "A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude." MONDO:0008281 "OMIM:175400 UMLS:C1868006" MONDO:0001917 "Chronic form of perichondritis of auricle." "ICD9:380.02 SCTID:45431004 DOID:14243 UMLS:C0155391" MONDO:0043364 "A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix." "SCTID:711160007 OMIM:261500 UMLS:C1850000 MESH:C564893 GARD:0012361" MONDO:0011666 -MONDO:0018708 "ICD10:C02.4 ICD10:C02.0 ICD10:C02.8 Orphanet:457252 UMLS:CN242132 ICD10:C02.1 ICD10:C02.2 ICD10:C02.3" +MONDO:0018708 "ICD10CM:C02.3 ICD10CM:C02.4 Orphanet:457252 ICD10CM:C02.1 ICD10CM:C02.8 UMLS:CN242132 ICD10CM:C02.2 ICD10CM:C02.0" UBERON:0016530 MONDO:0005478 "A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation." "UMLS:C0040479 MESH:D016171 HP:0001664 SCTID:31722008 EFO:0005307" MONDO:0018709 "Orphanet:457260 OMIM:300958" CL:2000051 "Any fibroblast that is part of a spleen." -MONDO:0020501 "Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure." "NCIT:C34682 UMLS:C1304456 DOID:12287 UMLS:C0019099 MESH:D006479 ICD9:065.0 Orphanet:99827 SCTID:402919000 ICD10:A98.0" -MONDO:0008262 "Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly." "ICD9:756.89 SCTID:38371006 NCIT:C85017 UMLS:C0032357 MESH:D011045 OMIM:173800 GARD:0007412 Orphanet:2911 DOID:12961 MedDRA:10036007 ICD10:Q79.8" +MONDO:0020501 "Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure." "UMLS:C1304456 MESH:D006479 DOID:12287 NCIT:C34682 ICD10CM:A98.0 SCTID:402919000 Orphanet:99827 UMLS:C0019099 ICD9:065.0" +MONDO:0008262 "Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly." "ICD10CM:Q79.8 ICD9:756.89 SCTID:38371006 NCIT:C85017 UMLS:C0032357 MESH:D011045 OMIM:173800 GARD:0007412 Orphanet:2911 DOID:12961 MedDRA:10036007" MONDO:0043083 "MESH:C536445 UMLS:C2931194 GARD:0001532" http://identifiers.org/hgnc/3046 GO:0043473 "The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells." MONDO:0003329 "Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy." "SCTID:20018005 HP:0006000 ICD9:593.4 DOID:5199 MESH:D014517" MONDO:0010468 "UMLS:C1835857 MESH:C563670 OMIM:300870" UBERON:0034670 -MONDO:0008544 "Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992." "Orphanet:2564 OMIM:187510 UMLS:C1861233 ICD10:Q73.8 MESH:C566066 GARD:0003707" +MONDO:0008544 "Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992." "Orphanet:2564 ICD10CM:Q73.8 OMIM:187510 UMLS:C1861233 MESH:C566066 GARD:0003707" MONDO:0012863 "OMIM:612312" MONDO:0010202 UBERON:0026386 GO:0035949 "OBSOLETE. Any process that activates or increases the frequency, rate or extent of gluconeogenesis by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter." -MONDO:0015867 "A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas." "DOID:0050918 NCIT:C3917 Orphanet:180247 UMLS:C0262659 ICD10:C52" -MONDO:0006794 "A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer." "EFO:1000974 MedDRA:10020764 NCIT:C82863 ICD10:M31.0 ICD10:D69.0 NCIT:C35119 ICD9:446.29 SCTID:60555002 DOID:9809 ICD9:446.2 ICD9:446.20" +MONDO:0015867 "A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas." "DOID:0050918 NCIT:C3917 Orphanet:180247 UMLS:C0262659 ICD10CM:C52" +MONDO:0006794 "A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer." "EFO:1000974 MedDRA:10020764 NCIT:C82863 NCIT:C35119 ICD9:446.29 SCTID:60555002 DOID:9809 ICD9:446.2 ICD9:446.20" HP:0008066 "The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls." "UMLS:C2132198 UMLS:C2220104 UMLS:C0241054" MONDO:0014161 "Orphanet:289365 OMIM:615390 UMLS:C3809337" MONDO:0044280 "OMIM:614411" MONDO:0044889 "A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements." "SCTID:277617004 NCIT:C138211 UMLS:C0456863" UBERON:0016531 MONDO:0011665 -MONDO:0014123 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene." "OMIM:615294 ICD10:Q34.8 UMLS:C3809087 DOID:0110596" +MONDO:0014123 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene." "OMIM:615294 UMLS:C3809087 DOID:0110596" MONDO:0010201 "GARD:0007894 UMLS:CN204453 ICD9:733.29 SCTID:254151006 OMIM:277950" GO:0070091 "The regulated release of glucagon from secretory granules in the A (alpha) cells of the pancreas (islets of Langerhans)." -MONDO:0004731 "A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health." "SCTID:9741000119101 OMIM:107640 ICD9:327.21 OMIM:207720 MESH:D020182 SCTID:27405005 DOID:9220 UMLS:C0751762 NCIT:C27169 UMLS:C3887547 ICD10:G47.31" +MONDO:0004731 "A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health." "SCTID:9741000119101 OMIM:107640 ICD9:327.21 OMIM:207720 MESH:D020182 SCTID:27405005 DOID:9220 ICD10CM:G47.31 UMLS:C0751762 NCIT:C27169 UMLS:C3887547" MONDO:0004581 NCBITaxon:121739 "GC_ID:1" http://identifiers.org/hgnc/11094 GO:0042430 "The chemical reactions and pathways involving compounds that contain an indole (2,3-benzopyrrole) skeleton." MONDO:0004030 "A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria." "UMLS:C0577692 NCIT:C4830 DOID:6888 EFO:1001973 SCTID:300988009" GO:0043177 "Binding to an organic acid, any acidic compound containing carbon in covalent linkage." -MONDO:0017789 "Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated." "Orphanet:314017 ICD10:H16.3" +MONDO:0017789 "Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated." "ICD10CM:H16.3 Orphanet:314017" MONDO:0000623 -MONDO:0014276 "Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations." "ICD10:D81.2 SCTID:725135004 DOID:0060018 OMIM:615607 UMLS:C4510864 GARD:0009521 Orphanet:169082 UMLS:C3810107" +MONDO:0014276 "Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations." "ICD10CM:D81.2 SCTID:725135004 DOID:0060018 OMIM:615607 UMLS:C4510864 GARD:0009521 Orphanet:169082 UMLS:C3810107" CL:0002112 "A B220-positive CD38-negative unswitched memory B cell is a CD38-negative unswitched memory B cell that has the phenotype B220-positive, CD38-negative, IgD-positive, CD138-negative, and IgG-negative." MONDO:0014541 "A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father." "OMIM:616222 UMLS:C4015558 Orphanet:254516 NCIT:C120409 DOID:0111713" UBERON:0019291 MONDO:0005782 -MONDO:0011346 "Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." "OMIM:603592 Orphanet:3467 Orphanet:93602 UMLS:C1863688 ICD10:E79.8 MESH:C566358 GARD:0005620" -MONDO:0018706 "Orphanet:457223 UMLS:CN242144 ICD10:G31.8" +MONDO:0011346 "Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." "OMIM:603592 Orphanet:3467 Orphanet:93602 UMLS:C1863688 ICD10CM:E79.8 MESH:C566358 GARD:0005620" +MONDO:0018706 "Orphanet:457223 ICD10CM:G31.8 UMLS:CN242144" GO:0060004 "An automatic response to a stimulus beginning with a nerve impulse from a receptor and ending with the action of an effector such as a gland or a muscle. Signaling never reaches a level of consciousness." MONDO:0003514 "A malignant form of teratoma." "NCIT:C4286 MESH:D013724 DOID:5563 NCIT:C4287" -MONDO:0017508 "ICD10:Q71.3 Orphanet:295114" -MONDO:0019757 "Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure." "OMIM:157170 OMIM:609637 ICD10:Q04.2 OMIM:610829 SCTID:253137003 Orphanet:93925" +MONDO:0017508 "Orphanet:295114 ICD10CM:Q71.3" +MONDO:0019757 "Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure." "OMIM:157170 ICD10CM:Q04.2 OMIM:609637 OMIM:610829 SCTID:253137003 Orphanet:93925" CHEBI:32775 "An optically active form of tyrosinium having D-configuration." -MONDO:0012865 "MESH:C563016 ICD10:L73.1 OMIM:612318 UMLS:C0549150" -MONDO:0004584 "ICD10:J67.6 UMLS:C0155890 SCTID:86638007 DOID:8484 ICD9:495.6" +MONDO:0012865 "MESH:C563016 ICD10CM:L73.1 OMIM:612318 UMLS:C0549150" +MONDO:0004584 "UMLS:C0155890 SCTID:86638007 DOID:8484 ICD9:495.6" http://identifiers.org/hgnc/3048 -MONDO:0002009 "An episode of depression lasting two or more weeks without an intervening episode of mania." "DOID:1595 OMIM:608520 OMIM:608516 MFOMD:0000143 EFO:0003761 DOID:2848 NCIT:C34796 DOID:1470 ICD10:F32 SCTID:370143000 ICD10:F33 SCTID:35489007 MESH:D003865 ICD10:F32.9 ICD10:F33.9 NCIT:C35094 MESH:D003866 ICD9:296.20 ICD9:296.2 SCTID:300706003 ICD9:296.3 OMIM:608691 ICD9:296.30" +MONDO:0002009 "An episode of depression lasting two or more weeks without an intervening episode of mania." "MESH:D003866 NCIT:C35094 OMIM:608516 SCTID:300706003 DOID:1595 ICD9:296.30 ICD9:296.20 ICD10CM:F32 OMIM:608691 NCIT:C34796 ICD9:296.2 MESH:D003865 OMIM:608520 ICD9:296.3 MFOMD:0000143 SCTID:370143000 DOID:2848 DOID:1470 SCTID:35489007 EFO:0003761" ENVO:00002030 "A biome which is determined by a water body and which has ecological climax communities adapted to life in or on water." GO:0002715 "Any process that modulates the frequency, rate, or extent of natural killer cell mediated immunity." GO:0044042 "The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues." -MONDO:0009658 "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays." "DOID:0111402 GARD:0007074 SCTID:15892005 Orphanet:79272 NCIT:C84900 OMIM:252940 UMLS:C0086650 Orphanet:581 ICD10:E76.2" +MONDO:0009658 "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays." "NCIT:C84900 DOID:0111402 SCTID:15892005 GARD:0007074 Orphanet:79272 ICD10CM:E76.2 UMLS:C0086650 Orphanet:581 OMIM:252940" UBERON:0014398 MONDO:0005471 "Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal" "EFO:0005254" NCBITaxon:33317 "GC_ID:1" HP:0007364 "UMLS:C4024902" http://identifiers.org/hgnc/4247 -MONDO:0011401 "UMLS:C1858751 DOID:0110048 MESH:C536599 OMIM:611155 OMIM:604154 GARD:0007190 MESH:C566998 ICD10:G30 UMLS:C1970143" +MONDO:0011401 "UMLS:C1858751 DOID:0110048 MESH:C536599 OMIM:611155 OMIM:604154 GARD:0007190 MESH:C566998 ICD10CM:G30 UMLS:C1970143" MONDO:0023865 "A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering." "NCIT:C83813 Orphanet:519278 SCTID:312428002 UMLS:C0729777" MONDO:0000622 -MONDO:0001061 "A malignant neoplasm involving the pylorus." "ICD9:151.1 DOID:10544 ICD10:C16.4 SCTID:187736009 UMLS:C0153418" +MONDO:0001061 "A malignant neoplasm involving the pylorus." "ICD9:151.1 DOID:10544 SCTID:187736009 UMLS:C0153418" UBERON:0019292 MONDO:0005781 MONDO:0018707 -MONDO:0011472 "Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering." "MESH:C536183 GARD:0009705 Orphanet:158668 OMIM:604536 UMLS:C1858302 SCTID:716699004 ICD10:Q81.0" +MONDO:0011472 "Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering." "MESH:C536183 GARD:0009705 ICD10CM:Q81.0 Orphanet:158668 OMIM:604536 UMLS:C1858302 SCTID:716699004" HP:0011830 "Abnormality of the oral mucosa." "UMLS:C4023170" NCBITaxon:299071 "GC_ID:1" -MONDO:0017509 "Orphanet:295116 ICD10:Q72.8" +MONDO:0017509 "ICD10CM:Q72.8 Orphanet:295116" http://identifiers.org/hgnc/10994 MONDO:0009444 "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987." "MESH:C537364 UMLS:C1855788 OMIM:242510 Orphanet:2269 GARD:0000292" MONDO:0007917 "Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children." "UMLS:C1835272 Orphanet:86914 GARD:0009217 OMIM:152900 MESH:C563612" @@ -11798,24 +11795,24 @@ http://identifiers.org/hgnc/3049 MONDO:0016979 "MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400." "Orphanet:263347 OMIM:193220" MONDO:0010469 "UMLS:C3550875 OMIM:300872" MONDO:0042981 "HP:0001650 SCTID:60573004 GARD:0005830" -MONDO:0010299 "Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." "MESH:C562583 OMIM:300323 ICD10:E79.8 Orphanet:79233 UMLS:C0268117 SCTID:238007004 ICD9:277.2" +MONDO:0010299 "Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." "MESH:C562583 OMIM:300323 Orphanet:79233 UMLS:C0268117 SCTID:238007004 ICD10CM:E79.8 ICD9:277.2" UBERON:0014399 -MONDO:0013550 "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." "SCTID:733489002 ICD10:G71.0 OMIM:614065 UMLS:C4518807 UMLS:C3279722 Orphanet:63273" +MONDO:0013550 "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." "ICD10CM:G71.0 SCTID:733489002 OMIM:614065 UMLS:C4518807 UMLS:C3279722 Orphanet:63273" MONDO:0003119 NCBITaxon:1570301 "GC_ID:1" -MONDO:0004645 "A malignant neoplasm involving the buccal mucosa." "ICD9:145.0 UMLS:C0153373 DOID:8702 SCTID:363386008 NCIT:C9320 ICD10:C06.0" +MONDO:0004645 "A malignant neoplasm involving the buccal mucosa." "ICD9:145.0 UMLS:C0153373 DOID:8702 SCTID:363386008 NCIT:C9320" MONDO:0056818 "An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components." "NCIT:C54250 UMLS:C1710103" MONDO:0009471 "Orphanet:332 MESH:C565461 OMIM:243320 UMLS:C1855721" MONDO:0001705 "A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia." "ICD9:284.81 SCTID:50715003 MESH:D012010 UMLS:C0034902 GARD:0007504 DOID:1340 NCIT:C34974" HP:0100598 "Fluid accumulation in the lungs." "UMLS:C0034063 MSH:D011654 SNOMEDCT_US:19242006" MONDO:0006117 "A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." "EFO:1000144 UMLS:C1511306 NCIT:C40375" -MONDO:0008273 "SCTID:201015007 UMLS:C0406217 OMIM:174770 Orphanet:330061 ICD10:L56.4" -MONDO:0004736 "An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria." "GARD:0006770 DOID:9252 ICD10:E72.9 ICD9:270 MESH:D000592 SCTID:42930003 ICD9:270.9" -MONDO:0016573 "Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy." "Orphanet:243367 ICD10:O26.6 GARD:0009578 UMLS:C1455728 MESH:C537957 MedDRA:10000746 SCTID:716379000" -MONDO:0011928 "Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." "Orphanet:1756 MESH:C564315 ICD10:Q87.8 UMLS:C1842884 GARD:0001164 SCTID:71464000 OMIM:607864" +MONDO:0008273 "SCTID:201015007 UMLS:C0406217 OMIM:174770 Orphanet:330061 ICD10CM:L56.4" +MONDO:0004736 "An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria." "GARD:0006770 DOID:9252 ICD9:270 MESH:D000592 SCTID:42930003 ICD9:270.9" +MONDO:0016573 "Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy." "Orphanet:243367 GARD:0009578 UMLS:C1455728 MESH:C537957 ICD10CM:O26.6 MedDRA:10000746 SCTID:716379000" +MONDO:0011928 "Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." "Orphanet:1756 ICD10CM:Q87.8 MESH:C564315 UMLS:C1842884 GARD:0001164 SCTID:71464000 OMIM:607864" http://identifiers.org/hgnc/25221 http://identifiers.org/hgnc/18122 -MONDO:0002279 "Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)" "ICD9:275.0 ICD10:E83.1 DOID:2351 MESH:D019189 SCTID:30913008 UMLS:C0012715 ICD10:E83.10" +MONDO:0002279 "Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)" "ICD9:275.0 DOID:2351 MESH:D019189 SCTID:30913008 ICD10CM:E83.1 UMLS:C0012715" HP:0000978 "An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma." "SNOMEDCT_US:302227002 UMLS:C0423798 SNOMEDCT_US:424131007 SNOMEDCT_US:425075004 UMLS:C0013491 SNOMEDCT_US:77643000 MSH:D004438" UBERON:0004549 CHEBI:43176 @@ -11829,7 +11826,7 @@ MONDO:0006051 "Pig disease caused by porcine circovirus type 2 (PCV2). Most repr HP:0010527 "Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit." "MSH:D000377 SNOMEDCT_US:25094008 UMLS:C0234505" GO:0033692 "The chemical reactions and pathways resulting in the formation of polysaccharides, polymers of many (typically more than 10) monosaccharide residues linked glycosidically, occurring at the level of an individual cell." UBERON:0005749 -MONDO:0012383 "The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21." "UMLS:C1864947 MESH:C566492 SCTID:724275005 OMIM:609981 ICD10:D84.8 Orphanet:75391 NCIT:C123729" +MONDO:0012383 "The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21." "UMLS:C1864947 MESH:C566492 SCTID:724275005 OMIM:609981 ICD10CM:D84.8 Orphanet:75391 NCIT:C123729" MONDO:0004422 "A meningioma that affects the falx cerebri." "UMLS:C1333597 NCIT:C5267 DOID:7986" SO:0001510 "A change in chromosomes that occurs between two separate chromosomes." http://identifiers.org/hgnc/2950 @@ -11846,20 +11843,20 @@ MONDO:0005167 "A non-metastasizing neoplasm arising from the fibrous tissue. It CL:0002255 "Connective tissue cells of the endometrium, these cells are fibroblastic in appearance. During decidualization they tranform into decidual (stromal) cells, swellling up and adopt an epithelial cell-like appearance due to the accumulation of glycogen and lipid droplets." "FMA:86490 CALOHA:TS-1266" MONDO:0008010 "OMIM:158030" GO:0002643 "Any process that modulates the frequency, rate, or extent of tolerance induction." -MONDO:0011457 "An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia." "OMIMPS:604391 ICD10:G11.3 OMIM:604391 Orphanet:251347 SCTID:700058006 UMLS:C1859598 ICD9:334.8 NCIT:C132224 MESH:C565779 UMLS:CN239583" +MONDO:0011457 "An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia." "OMIMPS:604391 OMIM:604391 Orphanet:251347 SCTID:700058006 UMLS:C1859598 ICD9:334.8 NCIT:C132224 MESH:C565779 UMLS:CN239583 ICD10CM:G11.3" MONDO:0015117 "OBSOLETE. Any of the forms of hepatobiliary neoplasm that have a rare incidence." "Orphanet:101943 UMLS:CN197474" MONDO:0015370 MONDO:0007912 "OMIM:152420" -MONDO:0015056 "Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "UMLS:CN197348 Orphanet:100056 ICD10:T78.3" +MONDO:0015056 "Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "ICD10CM:T78.3 UMLS:CN197348 Orphanet:100056" MONDO:0002578 "A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma." "ICD9:171.9 NCIT:C9150 DOID:3255 UMLS:C1306574 GARD:0009398 UMLS:C1306573 SCTID:404052009" NCBITaxon:1280412 "GC_ID:1" NCBITaxon:36087 "GC_ID:1" MONDO:0008011 "OMIM:158040" MONDO:0022742 "Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE." "UMLS:C0264423 MESH:D059366 SCTID:57607007" CHEBI:32774 "The D-enantiomer of tyrosinate(2-)." -MONDO:0001819 "DOID:13866 ICD9:352.6 UMLS:C0154733 ICD10:G52.7 SCTID:78152008" -MONDO:0008725 "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males." "GARD:0001465 ICD10:E25.0 UMLS:C0342474 SCTID:44231009 OMIM:201710 Orphanet:90790 Orphanet:418" -MONDO:0008737 "Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen." "OMIM:202400 DOID:2236 GARD:0005761 SCTID:154818001 ICD10:D68.2 Orphanet:98880 Orphanet:101041 Orphanet:335 NCIT:C98130 MESH:D000347" +MONDO:0001819 "DOID:13866 ICD9:352.6 UMLS:C0154733 SCTID:78152008" +MONDO:0008725 "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males." "GARD:0001465 UMLS:C0342474 SCTID:44231009 OMIM:201710 Orphanet:90790 ICD10CM:E25.0 Orphanet:418" +MONDO:0008737 "Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen." "OMIM:202400 ICD10CM:D68.2 DOID:2236 GARD:0005761 SCTID:154818001 Orphanet:98880 Orphanet:101041 Orphanet:335 NCIT:C98130 MESH:D000347" GO:0055081 "Any process involved in the maintenance of an internal steady state of anions within an organism or cell." MONDO:0000973 "A benign adipose tissue neoplasm of the external ear." "ICD9:215.0 SCTID:188988008 UMLS:C0347423 NCIT:C4618 DOID:10203" http://identifiers.org/hgnc/1754 @@ -11867,47 +11864,47 @@ MONDO:0004578 "DOID:8464 UMLS:C0154817 SCTID:83405000 ICD9:361.11" MONDO:0003386 "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria." "UMLS:C1332557 NCIT:C6179 DOID:5306" MONDO:0043544 "An infection acquired in a hospital or other healthcare setting." "MESH:D003428 SCTID:19168005 NCIT:C115164 EFO:1001299 UMLS:C0205721" GO:0009144 "The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar." -MONDO:0018123 "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features." "UMLS:CN204496 Orphanet:352530 ICD10:Q04.8" -MONDO:0008878 "Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988." "SCTID:732249002 GARD:0000922 ICD10:Q77.8 OMIM:211120 UMLS:C1859407 Orphanet:1842 MESH:C565896" +MONDO:0018123 "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features." "UMLS:CN204496 ICD10CM:Q04.8 Orphanet:352530" +MONDO:0008878 "Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988." "SCTID:732249002 GARD:0000922 OMIM:211120 ICD10CM:Q77.8 UMLS:C1859407 Orphanet:1842 MESH:C565896" MONDO:0000814 "An acute B-lymphoblastic leukemia occurring in adults." "EFO:1001935 DOID:0060592 UMLS:C0279593 NCIT:C9143" http://identifiers.org/hgnc/23088 -MONDO:0019427 "X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter." "Orphanet:85334 UMLS:CN206185 ICD10:G31.8 SCTID:718849008" +MONDO:0019427 "X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter." "Orphanet:85334 UMLS:CN206185 ICD10CM:G31.8 SCTID:718849008" HP:0001635 "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." "SNOMEDCT_US:84114007 SNOMEDCT_US:42343007 UMLS:C0018801 MSH:D006333 UMLS:C0018802" UBERON:0005744 MONDO:0003116 -MONDO:0020338 "Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms." "ICD10:D60.0 Orphanet:98872 UMLS:C0340961 SCTID:765748009 GARD:0010898 NCIT:C70548" +MONDO:0020338 "Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms." "Orphanet:98872 UMLS:C0340961 SCTID:765748009 GARD:0010898 NCIT:C70548 ICD10CM:D60.0" MONDO:0009474 "OMIM:243450" http://identifiers.org/hgnc/18127 MONDO:0033493 "Orphanet:2024 OMIM:617626 DOID:0080280" -MONDO:0010532 "A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure." "SCTID:719836007 Orphanet:1145 GARD:0008521 UMLS:C1844934 OMIM:301830 MESH:C535380 ICD10:G12.1" +MONDO:0010532 "A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure." "ICD10CM:G12.1 SCTID:719836007 Orphanet:1145 GARD:0008521 UMLS:C1844934 OMIM:301830 MESH:C535380" UBERON:0006948 GO:1900046 "Any process that modulates the frequency, rate or extent of hemostasis." -MONDO:0003441 "A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures." "MESH:D020821 HP:0001332 ICD10:G24.9 ICD10:G24 NCIT:C34563 DOID:543 ICD9:333.90 SCTID:15802004" +MONDO:0003441 "A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures." "MESH:D020821 HP:0001332 NCIT:C34563 DOID:543 ICD9:333.90 ICD10CM:G24 SCTID:15802004" CHEBI:27690 HP:0009826 "Limb shortening because of underdevelopment of one or more bones of the extremities." "UMLS:C0239399" MONDO:0005460 "An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness." "SCTID:442696006 DOID:0050211 EFO:0005226 NCIT:C80444" HP:0003072 "An abnormally increased calcium concentration in the blood." "UMLS:C0020437 MSH:D006934 SNOMEDCT_US:66931009 SNOMEDCT_US:166702002" UBERON:0006947 UBERON:0002149 -MONDO:0016087 "Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." "ICD10:Q87.8 SCTID:719268008 UMLS:C4304839 UMLS:CN200850 Orphanet:2062" -MONDO:0008276 "UMLS:CN204230 DOID:0050787 ICD10:D12.6 Orphanet:2929 OMIM:174900 Orphanet:329971" +MONDO:0016087 "Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." "SCTID:719268008 UMLS:C4304839 UMLS:CN200850 ICD10CM:Q87.8 Orphanet:2062" +MONDO:0008276 "UMLS:CN204230 DOID:0050787 ICD10CM:D12.6 Orphanet:2929 OMIM:174900 Orphanet:329971" http://identifiers.org/hgnc/5440 -MONDO:0009076 "An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction." "OMIM:220290 ICD10:H90.3 DOID:0110475 GARD:0001697 NCIT:C129022 MESH:C567134" +MONDO:0009076 "An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction." "OMIM:220290 DOID:0110475 GARD:0001697 NCIT:C129022 MESH:C567134" GO:0003707 "Combining with a steroid hormone and transmitting the signal within the cell to initiate a change in cell activity or function." http://identifiers.org/hgnc/23089 MONDO:0021165 "A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum." "NCIT:C7073" MONDO:0100482 "A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid." http://identifiers.org/hgnc/4250 -MONDO:0001916 "A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting." "ICD9:021.1 ICD10:A21.3 ICD9:021.8 DOID:14239" +MONDO:0001916 "A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting." "ICD9:021.1 ICD9:021.8 DOID:14239 ICD10CM:A21.3" MONDO:0020744 "A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)" "NCIT:C62017" MONDO:0002496 "An adenocarcinoma of the colon that has invaded into the submucosa." "NCIT:C38760 DOID:3038 UMLS:C1515024" http://identifiers.org/hgnc/2954 UBERON:0005745 -MONDO:0008275 "OMIM:174810 DOID:0111542 SCTID:254153009 ICD10:M89.5 GARD:0009168 MESH:C536335 Orphanet:85195 ICD9:756.9" +MONDO:0008275 "OMIM:174810 DOID:0111542 ICD10CM:M89.5 SCTID:254153009 GARD:0009168 MESH:C536335 Orphanet:85195 ICD9:756.9" MONDO:0008062 "A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy." "OMIM:161400 SCTID:46263000 NCIT:C84618 Orphanet:2073 UMLS:C1834372" -MONDO:0008742 "Autosomal dominant form of severe congenital neutropenia." "ICD10:D70 OMIM:257100 OMIM:202700 Orphanet:486 OMIM:613107 GARD:0009558 UMLS:C1859966" +MONDO:0008742 "Autosomal dominant form of severe congenital neutropenia." "OMIM:257100 OMIM:202700 Orphanet:486 OMIM:613107 GARD:0009558 UMLS:C1859966 ICD10CM:D70" MONDO:0002984 "A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003" "MESH:D015616 GARD:0012967 DOID:4394 NCIT:C3356 SCTID:404162004 ICD9:277.89 UMLS:C0035290" -MONDO:0018734 "A skin hemangioma characterized by the presence of epidermal hyperplasia." "UMLS:C0334540 ICDO:9142/0 DOID:470 Orphanet:464318 ICD10:D18.0 UMLS:CN242156 NCIT:C4299" +MONDO:0018734 "A skin hemangioma characterized by the presence of epidermal hyperplasia." "UMLS:C0334540 ICDO:9142/0 DOID:470 Orphanet:464318 UMLS:CN242156 ICD10CM:D18.0 NCIT:C4299" http://identifiers.org/hgnc/3052 UBERON:0006946 UBERON:0008242 @@ -11920,7 +11917,7 @@ http://identifiers.org/hgnc/2955 GO:1902652 "The chemical reactions and pathways involving secondary alcohol." MONDO:0005410 "Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft." "EFO:0004599" MONDO:0020024 "OBSOLETE. Rare infertility." "Orphanet:98047 UMLS:CN227735" -MONDO:0001803 "A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection." "ICD10:H73.01 DOID:13791 ICD9:384.01 UMLS:C0155461 SCTID:33528003" +MONDO:0001803 "A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection." "DOID:13791 ICD9:384.01 UMLS:C0155461 SCTID:33528003" HP:0006476 "An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin." "UMLS:C4025043" MONDO:0011960 "A schizophrenia that has material basis in a mutation on chromosome 10q22.3." "DOID:0070087 OMIM:608078 UMLS:C1842605" MONDO:0009472 "OMIM:243400" @@ -11928,9 +11925,9 @@ MONDO:0003114 http://identifiers.org/hgnc/21528 NCBITaxon:1980476 "GC_ID:1" MONDO:0054700 "OMIM:618048 UMLS:CN252342" -MONDO:0009295 "Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood." "DOID:11721 MedDRA:10053241 UMLS:C0017926 OMIM:232800 MESH:D006014 SCTID:89597008 ICD10:E74.0 NCIT:C118437 ICD10:E74.09 GARD:0005686 Orphanet:371" +MONDO:0009295 "Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood." "DOID:11721 MedDRA:10053241 UMLS:C0017926 OMIM:232800 MESH:D006014 SCTID:89597008 NCIT:C118437 ICD10CM:E74.0 GARD:0005686 Orphanet:371" http://identifiers.org/hgnc/18129 -MONDO:0016586 "Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement." "SCTID:397016004 NCIT:C9235 Orphanet:2467 GARD:0008616 ICD10:C96.2 UMLS:C0221013 ONCOTREE:SM DOID:349 MedDRA:10042949" +MONDO:0016586 "Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement." "SCTID:397016004 NCIT:C9235 Orphanet:2467 ICD10CM:C96.2 GARD:0008616 UMLS:C0221013 ONCOTREE:SM DOID:349 MedDRA:10042949" UBERON:0008243 PATO:0002255 "Texture quality inhering in a bearer by virtue of the bearer's being marked with one or more channels." MONDO:0000619 @@ -11939,26 +11936,26 @@ UBERON:0004548 MONDO:0054701 "DOID:0080598 OMIM:617768" MONDO:0021579 "A neoplasm (disease) that involves the femur." "ICD9:239.2 SCTID:126583006" MONDO:0007075 "MESH:C566307 Orphanet:91416 OMIM:103420" -MONDO:0019330 "Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." "SCTID:42829009 ICD10:L67.8 MESH:C537188 Orphanet:79492 ICD9:704.8" +MONDO:0019330 "Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." "SCTID:42829009 MESH:C537188 Orphanet:79492 ICD9:704.8 ICD10CM:L67.8" CL:0000878 "A tissue-resident macrophage found in the central nervous system." CHR:9606-chr14q11.2 MONDO:0016579 "UMLS:CN228623 OMIM:612286 Orphanet:244305 OMIM:612287" http://identifiers.org/hgnc/22986 -MONDO:0005966 "A malignant neoplasm involving the spleen" "MESH:D013160 EFO:0007491 NCIT:C3539 ICD10:C26.1 DOID:672 SCTID:127230005" +MONDO:0005966 "A malignant neoplasm involving the spleen" "MESH:D013160 EFO:0007491 NCIT:C3539 ICD10CM:C26.1 DOID:672 SCTID:127230005" GO:0045863 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving pteridine." MONDO:0016313 ENVO:01000317 "An environment whose dynamics are strongly influenced by water." MONDO:0011488 "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene." "DOID:0070286 UMLS:C1858108 Orphanet:2512 OMIM:604804 MESH:C565746" MONDO:0022457 "GARD:0000697" -MONDO:0008016 "UMLS:C0265226 ICD10:Q68.8 OMIM:158300 ICD9:759.89 GARD:0002621 MESH:C535857 SCTID:8757006 Orphanet:3377" +MONDO:0008016 "UMLS:C0265226 OMIM:158300 ICD9:759.89 GARD:0002621 MESH:C535857 SCTID:8757006 ICD10CM:Q68.8 Orphanet:3377" MONDO:0043959 "A neoplastic process that resembles a malignant lymphoma, but has a benign course." "MESH:D019310 EFO:1001414 SCTID:19750001 NCIT:C3825 UMLS:C0221269" CHEBI:176843 "Any member of a group of cobalamin vitamers that exhibit biological activity against vitamin B12 deficiency. Vitamin B12 deficiency is associated with low red blood cell count and anemia. The vitamers are found in foods such as cereals, meat, fish, and poultry. The vitamers include adenosylcobalamin, hydroxocobalamin, cyanocobalamin, aquacobalamin, nitritocobalamin and methylcobabalamin (also includes their ionized, salt and phosphate derivatives)." UBERON:0002146 MONDO:0014156 "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene." "OMIM:615378 UMLS:C3809312 Orphanet:334" MONDO:0015115 "Orphanet:101940 UMLS:C0851734" -MONDO:0012559 "Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections." "MESH:C563663 Orphanet:90023 UMLS:C4305256 UMLS:C1835829 OMIM:610798 ICD10:D82.8 SCTID:718717004" +MONDO:0012559 "Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections." "MESH:C563663 Orphanet:90023 UMLS:C4305256 ICD10CM:D82.8 UMLS:C1835829 OMIM:610798 SCTID:718717004" MONDO:0030997 "OMIM:619272" -MONDO:0017510 "Orphanet:295118 ICD10:Q72.8" +MONDO:0017510 "ICD10CM:Q72.8 Orphanet:295118" MONDO:0013344 "Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene." "OMIM:613656" CL:0000962 "A follicular B cell that is IgD-positive and CD23-positive and CD38-positive. This naive cell type is activated in the extrafollicular areas via interaction with dendritic cells and antigen specific T cells." NCBITaxon:2082224 "GC_ID:1" @@ -11966,12 +11963,12 @@ UBERON:0003343 UBERON:0011642 MONDO:0006216 "A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary." "UMLS:C0238137 NCIT:C7720 DOID:0050893 EFO:1000263" CHEBI:37527 "An acid is a molecular entity capable of donating a hydron (Bronsted acid) or capable of forming a covalent bond with an electron pair (Lewis acid)." -MONDO:0006807 "A rupture in the wall of the small or large intestine due to traumatic or pathologic processes." "EFO:1000987 ICD9:777.6 MESH:D007416 MedDRA:10022694 SCTID:56905009 NCIT:C39611 DOID:2074 ICD10:P78.0 UMLS:C0021845 ICD9:569.83" +MONDO:0006807 "A rupture in the wall of the small or large intestine due to traumatic or pathologic processes." "EFO:1000987 ICD9:777.6 MESH:D007416 MedDRA:10022694 ICD10CM:P78.0 SCTID:56905009 NCIT:C39611 DOID:2074 UMLS:C0021845 ICD9:569.83" UBERON:0005740 MONDO:0022456 "GARD:0000694" UBERON:0000111 "A stage at which the ectoderm, endoderm, and mesoderm develop into the internal organs of the organism." -MONDO:0009414 "Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves." "Orphanet:2089 ICD10:E74.0 UMLS:C0342748 GARD:0002513 OMIM:240600 MESH:C565485 UMLS:C1855861 GARD:0002889 SCTID:237964009" -MONDO:0008791 "Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days." "GARD:0005808 Orphanet:1048 OMIM:206500 ICD9:740.0 ICD10:Q00.0 SCTID:89369001" +MONDO:0009414 "Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves." "ICD10CM:E74.0 Orphanet:2089 UMLS:C0342748 GARD:0002513 OMIM:240600 MESH:C565485 UMLS:C1855861 GARD:0002889 SCTID:237964009" +MONDO:0008791 "Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days." "GARD:0005808 Orphanet:1048 OMIM:206500 ICD9:740.0 SCTID:89369001" NCBITaxon:64895 "PMID:8934900 PMID:28141502 PMID:16585709 PMID:31722850 PMID:10758897 PMID:30154058 PMID:10515907 PMID:32320380 PMID:27930271 PMID:7981102 PMID:31454394 PMID:9336916 PMID:31836459 PMID:30586413 PMID:24744012 PMID:8573491 GC_ID:11 PMID:8995795" MONDO:0030998 "OMIM:619274" MONDO:0017777 @@ -11980,11 +11977,11 @@ GO:0031226 "The component of the plasma membrane consisting of the gene products MONDO:0015114 "UMLS:CN197471 Orphanet:101939" http://identifiers.org/hgnc/7849 GO:0035303 "Any process that modulates the frequency, rate or extent of removal of phosphate groups from a molecule." -MONDO:0005920 "Malaria resulting from infection by Plasmodium falciparum." "NCIT:C34798 ICD9:084.0 EFO:0007444 ICD9:084.9 ICD10:B50.9 UMLS:C0024535 DOID:14067 ICD10:B50 MESH:D016778 SCTID:62676009" +MONDO:0005920 "Malaria resulting from infection by Plasmodium falciparum." "NCIT:C34798 ICD9:084.0 EFO:0007444 ICD9:084.9 UMLS:C0024535 DOID:14067 MESH:D016778 SCTID:62676009" NCBITaxon:2082223 "GC_ID:1" GO:0016053 "The chemical reactions and pathways resulting in the formation of organic acids, any acidic compound containing carbon in covalent linkage." MONDO:0023655 "OMIM:619281" -MONDO:0013371 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene." "OMIM:613694 ICD10:I42.0 DOID:0110455 MESH:C566296 Orphanet:154 UMLS:C3160720" +MONDO:0013371 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene." "OMIM:613694 ICD10CM:I42.0 DOID:0110455 MESH:C566296 Orphanet:154 UMLS:C3160720" UBERON:0003346 MONDO:0100100 "Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present." http://identifiers.org/hgnc/20323 @@ -11993,7 +11990,7 @@ GO:0035929 "The regulated release of any steroid that acts as a hormone into the http://identifiers.org/hgnc/6649 MONDO:0018972 "Orphanet:63443 UMLS:CN235187" MONDO:0007851 "Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene." "UMLS:C1835677 OMIM:148300 MESH:C563649" -MONDO:0016311 "Orphanet:217008 GARD:0013063 UMLS:CN201119 ICD10:Q27.4" +MONDO:0016311 "Orphanet:217008 ICD10CM:Q27.4 GARD:0013063 UMLS:CN201119" http://identifiers.org/hgnc/9143 http://identifiers.org/hgnc/15888 GO:0016645 "Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor." @@ -12004,7 +12001,7 @@ MONDO:0008279 MONDO:0100136 "OBSOLETE Any Fanconi anemia in which the cause of the disease is a mutation in the FANCM gene." CHEBI:36093 HP:0000979 "Purpura (from Latin: purpura, meaning \"purple\") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae." "SNOMEDCT_US:387778001 UMLS:C0034150 SNOMEDCT_US:423902002 SNOMEDCT_US:12393003 MSH:D011693" -MONDO:0009507 "Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." "OMIM:245550 Orphanet:1296 MESH:C538396 GARD:0003169 SCTID:732961003 ICD10:Q87.8 UMLS:C1855551" +MONDO:0009507 "Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." "OMIM:245550 Orphanet:1296 MESH:C538396 GARD:0003169 SCTID:732961003 UMLS:C1855551 ICD10CM:Q87.8" MONDO:0015113 "Orphanet:101938" CHEBI:28829 "A substituted aniline carrying a hydroxy substituent." GO:0051707 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism." @@ -12013,30 +12010,30 @@ UBERON:0005742 http://identifiers.org/hgnc/20324 CHEBI:18085 "Any polysaccharide containing a substantial proportion of aminomonosaccharide residues." http://identifiers.org/hgnc/17185 -MONDO:0017577 "Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions." "ICD10:G90.8 MESH:C537594 Orphanet:29822 UMLS:C2931542 GARD:0004815" +MONDO:0017577 "Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions." "MESH:C537594 ICD10CM:G90.8 Orphanet:29822 UMLS:C2931542 GARD:0004815" MONDO:0030995 "OMIM:619243" HP:0000843 "Excessive production of parathyroid hormone (PTH) by the parathyroid glands." "UMLS:C0020502 MSH:D006961 SNOMEDCT_US:66999008" -MONDO:0018973 "MESH:C536309 GARD:0009821 Orphanet:63454 ICD10:H35.5 UMLS:C1868569" -MONDO:0016310 "Orphanet:216986 UMLS:CN201116 ICD10:E75.2" +MONDO:0018973 "MESH:C536309 GARD:0009821 Orphanet:63454 ICD10CM:H35.5 UMLS:C1868569" +MONDO:0016310 "Orphanet:216986 ICD10CM:E75.2 UMLS:CN201116" PATO:0002318 "A shape constituting a transition between a rectangle and a circle; a closed curve, of which the circle and ellipse are special cases, whose parametric equation is x = a.cos2/rt, y = b.cos2/rt" MONDO:0019073 "MESH:C536825 GARD:0002492 DOID:0111360 OMIM:137940 UMLS:CN205563" -MONDO:0006875 "Abnormally high intraocular pressure." "EFO:1001069 ICD9:365.04 MESH:D009798 ICD10:H40.05 SCTID:4210003 UMLS:C0028840 NCIT:C3285 DOID:9282 MedDRA:10030043" +MONDO:0006875 "Abnormally high intraocular pressure." "EFO:1001069 ICD9:365.04 MESH:D009798 SCTID:4210003 UMLS:C0028840 NCIT:C3285 DOID:9282 MedDRA:10030043" MONDO:0002464 "A malignant neoplasm involving the lacrimal gland." "NCIT:C4360 SCTID:127004000 NCIT:C3563 ICD9:239.89 DOID:294 ICD9:190.2" http://identifiers.org/hgnc/10729 UBERON:0004544 -MONDO:0009254 "Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis." "ICD9:271.8 MESH:D005645 GARD:0006473 NCIT:C61274 ICD10:E77.1 DOID:14500 Orphanet:349 OMIM:230000 UMLS:C0016788 SCTID:64716005" +MONDO:0009254 "Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis." "ICD9:271.8 MESH:D005645 GARD:0006473 NCIT:C61274 DOID:14500 ICD10CM:E77.1 Orphanet:349 OMIM:230000 UMLS:C0016788 SCTID:64716005" MONDO:0011002 "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene." "Orphanet:90120 UMLS:C0393807 OMIM:601152" MONDO:0008278 "MESH:C563412 Orphanet:2929 OMIM:175050 DOID:0111543 UMLS:C1832942" MONDO:0030996 "OMIM:619271" MONDO:0037807 "A disease that has its basis in the disruption of glycerol metabolic process." "SCTID:237977000 UMLS:C0342762" -MONDO:0015378 "ICD10:Q18.0 SCTID:707234001 Orphanet:141037" +MONDO:0015378 "ICD10CM:Q18.0 SCTID:707234001 Orphanet:141037" MONDO:0021256 UBERON:0011645 -MONDO:0002425 "A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma." "ICD9:154.0 DOID:2782 UMLS:C0153443 ICD10:C19 SCTID:363414004 NCIT:C7420" +MONDO:0002425 "A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma." "ICD9:154.0 DOID:2782 ICD10CM:C19 UMLS:C0153443 SCTID:363414004 NCIT:C7420" MONDO:0023659 "OMIM:619340" MONDO:0020058 "SCTID:95462004 ICD9:758.8 ICD9:758.81 Orphanet:98155" MONDO:0003481 "A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." "UMLS:C0346185 SCTID:254874008 NCIT:C8106 EFO:1000414 ONCOTREE:ODYS DOID:5511" -MONDO:0018490 "Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies." "ICD10:Q77.7 Orphanet:420794 SCTID:766874001 UMLS:CN237491" +MONDO:0018490 "Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies." "Orphanet:420794 SCTID:766874001 UMLS:CN237491 ICD10CM:Q77.7" MONDO:0008012 "MESH:C563570 OMIM:158100 UMLS:C1834753" MONDO:0007913 "OMIM:152450" GO:0051193 "OBSOLETE. Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a cofactor." @@ -12048,29 +12045,29 @@ MONDO:0054708 "OMIM:617781" http://identifiers.org/hgnc/9141 MONDO:0015111 "Orphanet:101936 UMLS:CN197468" HP:0000992 "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." "MSH:D010787 SNOMEDCT_US:90128006 UMLS:C0349506" -MONDO:0015377 "Orphanet:141030 ICD10:Q18.0 SCTID:73391000119102" +MONDO:0015377 "Orphanet:141030 SCTID:73391000119102 ICD10CM:Q18.0" MONDO:0054831 "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene." "UMLS:CN248780 OMIM:618027" -MONDO:0017772 "Orphanet:31142 UMLS:CN203692 ICD10:L43.8" -MONDO:0014331 "Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis." "OMIM:615750 Orphanet:401945 ICD10:I67.5 SCTID:718551002 UMLS:C3810403" +MONDO:0017772 "Orphanet:31142 UMLS:CN203692 ICD10CM:L43.8" +MONDO:0014331 "Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis." "OMIM:615750 Orphanet:401945 SCTID:718551002 ICD10CM:I67.5 UMLS:C3810403" HP:0001928 "An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot." "MSH:D006474 MSH:D001778 UMLS:C1846821 UMLS:C0005779 SNOMEDCT_US:64779008 UMLS:C0019087 SNOMEDCT_US:362970003" MONDO:0020059 "Orphanet:98156" -MONDO:0017089 "A megalencephaly (disease) that is not part of a larger syndrome." "Orphanet:268920 ICD10:Q04.5" -MONDO:0004658 "A in situ carcinoma that involves the breast." "NCIT:C3641 ICD10:D05 ICD9:233.0 SCTID:189336000 UMLS:C0154084 ICD10:D05.9 DOID:8791" +MONDO:0017089 "A megalencephaly (disease) that is not part of a larger syndrome." "ICD10CM:Q04.5 Orphanet:268920" +MONDO:0004658 "A in situ carcinoma that involves the breast." "SCTID:189336000 ICD9:233.0 UMLS:C0154084 NCIT:C3641 DOID:8791" GO:0060300 "Any process that modulates the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells." -MONDO:0001064 "Acute form of otosalpingitis." "UMLS:C0155429 ICD9:381.51 ICD10:H68.019 DOID:10550 SCTID:194268005 ICD10:H68.01" -MONDO:0017178 "A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis." "ICD9:732.7 MedDRA:10031231 UMLS:C0029421 Orphanet:251262 MESH:D010008 NCIT:C34878 OMIM:165800 HP:0010886 DOID:84 Orphanet:2764 ICD10:M93.2 ICD10:M93.9 GARD:0012703 SCTID:82562007 GARD:0004133" +MONDO:0001064 "Acute form of otosalpingitis." "UMLS:C0155429 ICD9:381.51 DOID:10550 SCTID:194268005" +MONDO:0017178 "A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis." "ICD9:732.7 MedDRA:10031231 UMLS:C0029421 Orphanet:251262 MESH:D010008 NCIT:C34878 ICD10CM:M93.2 OMIM:165800 HP:0010886 DOID:84 Orphanet:2764 GARD:0012703 SCTID:82562007 GARD:0004133" CHEBI:35294 "A polyclic compound in which all of the ring members are carbon atoms." http://identifiers.org/hgnc/15889 MONDO:0007914 "MESH:C563613 UMLS:C1835320 OMIM:152550" MONDO:0002840 "An eosinophilic gastroenteritis that is characterized by inflammation of the stomach." "DOID:4030 SCTID:66329006 UMLS:C0267154 ICD9:535.7 ICD9:535.40 ICD9:535.70 NCIT:C27052" -MONDO:0019075 "Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation." "OMIM:601536 Orphanet:69737 ICD10:Q87.8" +MONDO:0019075 "Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation." "ICD10CM:Q87.8 OMIM:601536 Orphanet:69737" http://identifiers.org/hgnc/9142 -MONDO:0003799 "Inflammation of the conjunctiva of the eye." "UMLS:C0009763 MESH:D003231 NCIT:C34504 ICD9:372.39 ICD10:H10.9 ICD9:372.30 HP:0000509 DOID:6195 SCTID:9826008 ICD10:H10" -MONDO:0019751 "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease." "UMLS:C3890737 NCIT:C119050 Orphanet:93665 UMLS:C3267073 MedDRA:10072220" -MONDO:0015376 "SCTID:73371000119103 ICD10:Q18.0 Orphanet:141013" -MONDO:0019188 "A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." "UMLS:C0035934 OMIM:613684 GARD:0007593 NCIT:C75466 ICD10:Q87.2 MESH:D012415 MedDRA:10039281 ICD9:759.89 SCTID:45582004 OMIM:610543 Orphanet:783 OMIM:180849 DOID:1933 OMIMPS:180849" +MONDO:0003799 "Inflammation of the conjunctiva of the eye." "UMLS:C0009763 MESH:D003231 NCIT:C34504 ICD9:372.39 ICD9:372.30 HP:0000509 DOID:6195 SCTID:9826008" +MONDO:0019751 "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease." "UMLS:C3890737 NCIT:C119050 Orphanet:93665 ICD10CM:M04-M04 UMLS:C3267073 MedDRA:10072220" +MONDO:0015376 "SCTID:73371000119103 ICD10CM:Q18.0 Orphanet:141013" +MONDO:0019188 "A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics." "ICD10CM:Q87.2 UMLS:C0035934 OMIM:613684 GARD:0007593 NCIT:C75466 MESH:D012415 MedDRA:10039281 ICD9:759.89 SCTID:45582004 OMIM:610543 Orphanet:783 OMIM:180849 DOID:1933 OMIMPS:180849" MONDO:0017807 "A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment." "Orphanet:314613 UMLS:C3891714 NCIT:C118370 UMLS:CN203773" -MONDO:0021660 "A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars." "Orphanet:397587 UMLS:C1395264 ICD10:B35.8 NCIT:C35073" +MONDO:0021660 "A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars." "Orphanet:397587 UMLS:C1395264 ICD10CM:B35.8 NCIT:C35073" MONDO:0008014 "UMLS:C1834741 OMIM:158250" MONDO:0020638 "A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi." "ICDO:8743/3 NCIT:C9152 SCTID:254730000" MONDO:0030990 "OMIM:619229" @@ -12081,41 +12078,41 @@ UBERON:0003342 http://identifiers.org/hgnc/15626 MONDO:0002312 "A mycosis that arises from infection in an immunologically compromised host." "SCTID:78999002 UMLS:C0029119 ICD9:118 ICD9:117.9 DOID:2473" GO:1903715 "Any process that modulates the frequency, rate or extent of aerobic respiration." -MONDO:0016251 "Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma." "ICD10:C50.8 SCTID:716593008 Orphanet:213557 ICD10:C50.2 ICD10:C50.5 GARD:0012774 ICD10:C50.1 ICD10:C50.4 ICD10:C50.6 ICD10:C50.0 ICD10:C50.3" +MONDO:0016251 "Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma." "ICD10CM:C50.8 SCTID:716593008 ICD10CM:C50.1 Orphanet:213557 ICD10CM:C50.6 GARD:0012774 ICD10CM:C50.0 ICD10CM:C50.3 ICD10CM:C50.5 ICD10CM:C50.2 ICD10CM:C50.4" MONDO:0005801 "A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." "EFO:0007316 MESH:D015490 UMLS:C0020097 GARD:0009645" -MONDO:0002128 "A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome." "ICD10:G58.7 UMLS:C0151295 NCIT:C70938 ICD9:354.5 SCTID:30292005 DOID:1835 GARD:0007056" -MONDO:0005526 "A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites." "ICD10:A33 GARD:0005144 ICD9:037 MedDRA:10043376 DOID:11338 MESH:D013742 ICD10:A35 SCTID:276202003 UMLS:C0039614 SCTID:76902006 ICD10:A34 Orphanet:3299 NCIT:C85185 EFO:0005593" +MONDO:0002128 "A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome." "UMLS:C0151295 ICD10CM:G58.7 NCIT:C70938 ICD9:354.5 SCTID:30292005 DOID:1835 GARD:0007056" +MONDO:0005526 "A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites." "GARD:0005144 ICD9:037 MedDRA:10043376 DOID:11338 MESH:D013742 ICD10CM:A35 SCTID:276202003 UMLS:C0039614 ICD10CM:A34 SCTID:76902006 ICD10CM:A33 Orphanet:3299 NCIT:C85185 EFO:0005593" http://identifiers.org/hgnc/12029 UBERON:0011648 -MONDO:0018936 "A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent." "MESH:D018215 NCIT:C3294 ICD10:D16.4 ICDO:9200/0 ICD10:D16.5 HP:0011846 UMLS:C0029417 Orphanet:58040 MedDRA:10004430 ICD10:D16.7 EFO:1000410 ICD10:D16.8 ICD10:D16.3 DOID:0060098 ICD10:D16.6 ICD10:D16.0 ICD10:D16.1" +MONDO:0018936 "A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent." "ICD10CM:D16.8 DOID:0060098 ICD10CM:D16.0 ICD10CM:D16.3 Orphanet:58040 MedDRA:10004430 NCIT:C3294 EFO:1000410 ICD10CM:D16.6 ICD10CM:D16.1 ICDO:9200/0 ICD10CM:D16.7 HP:0011846 MESH:D018215 UMLS:C0029417 ICD10CM:D16.4 ICD10CM:D16.5" GO:0045620 "Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte differentiation." -MONDO:0014379 "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13." "UMLS:C4014538 GARD:0012931 Orphanet:404448 DOID:0070058 SCTID:766824003 ICD10:Q87.0 OMIM:615873" +MONDO:0014379 "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13." "UMLS:C4014538 GARD:0012931 Orphanet:404448 DOID:0070058 ICD10CM:Q87.0 SCTID:766824003 OMIM:615873" HP:0100659 "An anomaly of the cerebral blood vessels." "UMLS:C4022001" MONDO:0006719 MONDO:0003752 "A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma." "UMLS:C1333645 NCIT:C6837 DOID:6054" MONDO:0000412 "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age." "DOID:0050702" MONDO:0100385 "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)" "NCIT:C36372" MONDO:0012981 "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene." "DOID:0110919 Orphanet:822 MESH:C567208 OMIM:612653 UMLS:C2675212" -MONDO:0007943 "Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." "DOID:5768 SCTID:35520007 GARD:0000498 OMIM:154400 Orphanet:245 MESH:C538184 UMLS:C1332140 NCIT:C35795 UMLS:C0265245 ICD10:Q75.4" +MONDO:0007943 "Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." "ICD10CM:Q75.4 DOID:5768 SCTID:35520007 GARD:0000498 OMIM:154400 Orphanet:245 MESH:C538184 UMLS:C1332140 NCIT:C35795 UMLS:C0265245" MONDO:0030991 "OMIM:619232" http://identifiers.org/hgnc/15625 http://identifiers.org/hgnc/18121 MONDO:0012987 "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene." "Orphanet:33110 OMIM:612692 Orphanet:229717 UMLS:C3150207" MONDO:0023657 "OMIM:619320" -MONDO:0015473 "Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970." "ICD10:Q87.8 Orphanet:1548 UMLS:CN199616 GARD:0000860" +MONDO:0015473 "Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970." "Orphanet:1548 ICD10CM:Q87.8 UMLS:CN199616 GARD:0000860" CL:0000625 "A T cell expressing an alpha-beta T cell receptor and the CD8 coreceptor." -MONDO:0015374 "Orphanet:140989 GARD:0008703 ICD10:I67.7 MESH:C537295" -MONDO:0009942 "Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis." "GARD:0004610 ICD10:Q78.8 OMIM:265880 UMLS:C1849523 Orphanet:3003 SCTID:719258003 MESH:C536251" +MONDO:0015374 "Orphanet:140989 GARD:0008703 MESH:C537295 ICD10CM:I67.7" +MONDO:0009942 "Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis." "GARD:0004610 OMIM:265880 ICD10CM:Q78.8 UMLS:C1849523 Orphanet:3003 SCTID:719258003 MESH:C536251" UBERON:0003384 MONDO:0021380 "A neoplasm (disease) that involves the myocardium." "UMLS:C1290402 ICD9:239.89 SCTID:126732009 NCIT:C5349" MONDO:0000851 -MONDO:0009717 "A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia)." "UMLS:C0036391 GARD:0000250 ICD10:Q78.8 SCTID:29145002 NCIT:C35008 Orphanet:800 OMIM:255800 ICD10:G71.1 ICD9:759.89" +MONDO:0009717 "A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia)." "UMLS:C0036391 GARD:0000250 SCTID:29145002 NCIT:C35008 ICD10CM:G71.1 Orphanet:800 OMIM:255800 ICD10CM:Q78.8 ICD9:759.89" MONDO:0005554 "Inflammatory and degenerative diseases of connective tissue structures, such as arthritis." "NCIT:C27204 DOID:1575 UMLS:C0035435 MESH:D012216 Wikipedia:Rheumatism EFO:0005755 SCTID:396332003 ICD9:729.0" MONDO:0003775 "A meningioma that affects the lateral ventricle of the brain." "DOID:6115 UMLS:C1334380 NCIT:C5302" MONDO:0003021 "A malignant vascular neoplasm arising from the brain, spinal cord or meninges." "UMLS:C1332875 NCIT:C5450 DOID:4504" MONDO:0012913 "A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene." "Orphanet:893 MESH:C567292 OMIM:612469 UMLS:C2675904 NCIT:C122804" MONDO:0021021 "GARD:0000249 OMIM:122860 MESH:C567275" -MONDO:0019825 "Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure." "ICD10:Q24.5 Orphanet:95491 SCTID:204378009" +MONDO:0019825 "Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure." "Orphanet:95491 ICD10CM:Q24.5 SCTID:204378009" UBERON:0004581 http://identifiers.org/hgnc/11946 UBERON:0001821 @@ -12129,7 +12126,7 @@ MONDO:0005048 "An insulin-producing neuroendocrine tumor arising from the beta c GO:0008527 "Combining with soluble compounds to initiate a change in cell activity. These receptors are responsible for the sense of taste." UBERON:0003383 MONDO:0000850 -MONDO:0018323 "HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life." "OMIM:300438 UMLS:CN204975 ICD10:E72.8 Orphanet:391457" +MONDO:0018323 "HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life." "OMIM:300438 UMLS:CN204975 ICD10CM:E72.8 Orphanet:391457" MONDO:0006206 "A carcinoma that arises from epithelial cells of the fallopian tube." "NCIT:C3867 DOID:1963 EFO:1000251 UMLS:C0238122 SCTID:276870001" NCIT:C12219 MONDO:0021286 @@ -12141,10 +12138,10 @@ UBERON:0002185 UBERON:0001820 UBERON:0004582 CHR:9606-chr14q12 -MONDO:0010439 "GARD:0008311 OMIM:300829 MESH:C543241 UMLS:C1853577" +MONDO:0010439 "OMIM:606163 GARD:0008311 OMIM:300829 MESH:C543241 UMLS:C1853577" http://identifiers.org/hgnc/11943 UBERON:0001824 -MONDO:0007442 "Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." "OMIM:125500 Orphanet:166265 GARD:0010144 SCTID:234970006 ICD9:520.5 ICD10:K00.5 MESH:C538216" +MONDO:0007442 "Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." "ICD10CM:K00.5 OMIM:125500 Orphanet:166265 GARD:0010144 SCTID:234970006 ICD9:520.5 MESH:C538216" CHEBI:23888 "Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances." NCBITaxon:194440 "GC_ID:1" CL:0000155 "A cell that is usually basal in position, cuboidal with round nucleus, short microvilli, secretes pepsinogen." "FMA:62902" @@ -12160,51 +12157,51 @@ CHEBI:140310 "An acetate ester obtained by formal condensation of the carboxy gr NCBITaxon:1653394 "GC_ID:1" CHR:9606-chr19p13 MONDO:0011875 "An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene." "DOID:0111312 OMIM:607628 Orphanet:307" -MONDO:0018045 "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." "ICD10:D61.0 GARD:0000346 OMIM:613990 OMIM:615190 Orphanet:3322 OMIM:616553 MESH:C536068 UMLS:C1846142 OMIM:613989 SCTID:707276009 OMIM:616353 OMIM:305000" +MONDO:0018045 "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." "ICD10CM:D61.0 GARD:0000346 OMIM:613990 OMIM:615190 Orphanet:3322 OMIM:616553 MESH:C536068 UMLS:C1846142 OMIM:613989 SCTID:707276009 OMIM:616353 OMIM:305000" HP:0011450 "A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection." "SNOMEDCT_US:128117002 MSH:D002494 UMLS:C0007684" MONDO:0009449 "Orphanet:244 GARD:0002981 ICD9:759.89 SCTID:233664005 OMIM:242670 UMLS:C0340035 MESH:C536286" -MONDO:0019939 "Orphanet:96369 ICD10:F20.8" +MONDO:0019939 "Orphanet:96369 ICD10CM:F20.8" CHR:9606-chr14q11 UBERON:0001823 MONDO:0022482 "GARD:0000759" NCBITaxon:194441 "GC_ID:1" -MONDO:0014131 "Orphanet:363523 ICD10:Q82.8 UMLS:C3809160 OMIM:615328" +MONDO:0014131 "ICD10CM:Q82.8 Orphanet:363523 UMLS:C3809160 OMIM:615328" CL:0001201 "A B cell that is CD19-positive." -MONDO:0019296 "A disease involving the superficial fascia." "Orphanet:79382 UMLS:C1290008" -MONDO:0020549 "A complete hydatidiform mole or very rarely a partial mole that invades the myometrium." "UMLS:C0008493 Orphanet:99925 MESH:D002820 SCTID:416669000 ICDO:9100/1 ICD10:D39.2 NCIT:C6985 ONCOTREE:IHM" +MONDO:0019296 "A disease involving the superficial fascia." "Orphanet:79382 ICD10CM:L80-L99 ICD10CM:L00-L99 ICD10CM:L55-L59 UMLS:C1290008" +MONDO:0020549 "A complete hydatidiform mole or very rarely a partial mole that invades the myometrium." "UMLS:C0008493 Orphanet:99925 MESH:D002820 SCTID:416669000 ICDO:9100/1 NCIT:C6985 ONCOTREE:IHM ICD10CM:D39.2" MONDO:0011635 "UMLS:C1853686 OMIM:606082 MESH:C565260" HP:0001650 "The presence of a stenosis (narrowing) of the aortic valve." "MSH:D001024 SNOMEDCT_US:60573004 Fyler:1411 UMLS:C0003507" -MONDO:0018739 "ICD10:P61.5 UMLS:C0272176 Orphanet:464370 SCTID:14333004" +MONDO:0018739 "UMLS:C0272176 Orphanet:464370 ICD10CM:P61.5 SCTID:14333004" MONDO:0011636 "UMLS:C1853666 MESH:C536130 OMIM:606129 GARD:0008283" CHEBI:33559 -MONDO:0008885 "An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." "MESH:C566373 OMIM:211380 ICD10:Q87.8 OMIM:603463 MESH:C537084 UMLS:C1863870 Orphanet:1299 SCTID:719097002 Orphanet:157788 GARD:0000955 DOID:0080631" +MONDO:0008885 "An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971." "MESH:C566373 ICD10CM:Q87.8 OMIM:211380 OMIM:603463 MESH:C537084 UMLS:C1863870 Orphanet:1299 SCTID:719097002 Orphanet:157788 GARD:0000955 DOID:0080631" CHEBI:52625 MONDO:0024886 "A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential." "NCIT:C67090 UMLS:C0334498 ICDO:9014/0" -MONDO:0011568 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene." "ICD10:H90.3 UMLS:C1854158 Orphanet:90635 OMIM:605583 MESH:C565319 DOID:0110555" +MONDO:0011568 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene." "UMLS:C1854158 Orphanet:90635 OMIM:605583 MESH:C565319 DOID:0110555" MONDO:0004062 "Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." "DOID:6992 UMLS:C0279693 NCIT:C7989" GO:0044272 "The chemical reactions and pathways resulting in the formation of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione." -MONDO:0010088 "Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus." "Orphanet:585 NCIT:C84908 OMIM:272200 GARD:0005061 ICD10:E75.2 UMLS:C0268263 DOID:0050441 MESH:D052517 SCTID:54898003" +MONDO:0010088 "Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus." "Orphanet:585 ICD10CM:E75.2 NCIT:C84908 OMIM:272200 GARD:0005061 UMLS:C0268263 DOID:0050441 MESH:D052517 SCTID:54898003" MONDO:0020927 "OMIMPS:174200" MONDO:0019938 "SCTID:33225004 MESH:C537771 ICD9:751.5 Orphanet:96346" CHEBI:28479 "An optically active form of tyrosine having D-configuration." UBERON:0002187 -MONDO:0011122 "A disorder involving an excessive amount of body fat." "ICD9:278.0 SCTID:414916001 ICD9:278.00 ICD10:E66.9 DOID:9970 Orphanet:71529 Orphanet:521399 UMLS:C0028754 EFO:0001073 NIFSTD:nlx_dys_20090302 HP:0001513 NCIT:C3283" -MONDO:0010891 "Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin." "UMLS:C1838120 ICD10:D58.8 MESH:C563935 GARD:0002642 OMIM:600461 Orphanet:1046" -MONDO:0016570 "Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG)." "ICD10:C85.7 SCTID:718200007 UMLS:C4273669 Orphanet:2420 UMLS:C0519063 MedDRA:10037418" +MONDO:0011122 "A disorder involving an excessive amount of body fat." "ICD9:278.0 SCTID:414916001 OMIM:601665 ICD9:278.00 DOID:9970 Orphanet:71529 Orphanet:521399 UMLS:C0028754 EFO:0001073 NIFSTD:nlx_dys_20090302 HP:0001513 NCIT:C3283" +MONDO:0010891 "Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin." "UMLS:C1838120 MESH:C563935 GARD:0002642 OMIM:600461 Orphanet:1046 ICD10CM:D58.8" +MONDO:0016570 "Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG)." "SCTID:718200007 UMLS:C4273669 Orphanet:2420 UMLS:C0519063 MedDRA:10037418" MONDO:0012836 "OMIM:612254" MONDO:0014430 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene." "UMLS:C4014864 OMIM:615979" UBERON:0003380 MONDO:0020086 -MONDO:0014058 "A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer." "UMLS:C3554576 Orphanet:352712 OMIM:615139 ICD10:Q87.1" +MONDO:0014058 "A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer." "UMLS:C3554576 Orphanet:352712 OMIM:615139 ICD10CM:Q87.1" NCBITaxon:422676 "GC_ID:1" -MONDO:0011501 "Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999." "Orphanet:166277 ICD10:Q78.8 OMIM:604922 MESH:C565734 GARD:0010290 UMLS:C1858032" -MONDO:0017538 "ICD10:Q69.2 Orphanet:295177" +MONDO:0011501 "Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999." "Orphanet:166277 ICD10CM:Q78.8 MESH:C565734 OMIM:604922 GARD:0010290 UMLS:C1858032" +MONDO:0017538 "ICD10CM:Q69.2 Orphanet:295177" GO:0003677 "Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid)." MONDO:0007989 "Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma." "OMIM:156600 Orphanet:566 MESH:C537550 SCTID:400962005 GARD:0003635" MONDO:0008826 "Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993." "Orphanet:1485 OMIM:208158 SCTID:726620005 GARD:0003053 MESH:C535883 UMLS:C1859710" UBERON:0002182 MONDO:0021025 "OMIM:118900" -MONDO:0019912 "Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes." "ICD10:Q99.8 SCTID:766239009 Orphanet:96181" +MONDO:0019912 "Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes." "SCTID:766239009 ICD10CM:Q99.8 Orphanet:96181" MONDO:0010895 "An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)." "MESH:C535334 Orphanet:918 UMLS:CN206498 UMLS:C1838099 DOID:0050600 OMIM:600501" MONDO:0100092 "Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13." "OMIM:618364" MONDO:0005287 "Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)" "MESH:D002658 EFO:0003852" @@ -12213,11 +12210,11 @@ CL:0001059 "A progenitor cell committed to myeloid lineage, including the megaka MONDO:0014108 "Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene." "OMIM:615272 DOID:0111093 UMLS:C3808988" MONDO:0024501 "A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "NCIT:C60709" GO:0045684 "Any process that activates or increases the frequency, rate or extent of epidermis development." -MONDO:0018737 "SCTID:609329007 ICD9:289.81 UMLS:C3662487 ICD10:D68.6 Orphanet:464343 UMLS:CN242096 GARD:0009820" -MONDO:0014399 "Orphanet:438134 UMLS:C4014676 ICD10:G11.3 OMIM:615919" +MONDO:0018737 "SCTID:609329007 ICD9:289.81 UMLS:C3662487 Orphanet:464343 UMLS:CN242096 GARD:0009820 ICD10CM:D68.6" +MONDO:0014399 "Orphanet:438134 UMLS:C4014676 ICD10CM:G11.3 OMIM:615919" MONDO:0014133 "Orphanet:352596 DOID:0080449 OMIM:615338 UMLS:C3809173 Orphanet:293181" -MONDO:0012407 "Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." "GARD:0010730 SCTID:724576005 MESH:C566449 OMIM:610090 Orphanet:79096 DOID:0111329 UMLS:C1864723 ICD10:G40.8" -MONDO:0017539 "Orphanet:295179 ICD10:Q69.2" +MONDO:0012407 "Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." "DOID:0111329 SCTID:724576005 OMIM:610090 UMLS:C1864723 MESH:C566449 Orphanet:79096 GARD:0010730 ICD10CM:G40.8" +MONDO:0017539 "Orphanet:295179 ICD10CM:Q69.2" MONDO:0002631 "A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis." "ICDO:9195/3 NCIT:C35870 UMLS:C1266166 DOID:7602 DOID:3378 ICDO:9186/3" MONDO:0004386 "An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision." "UMLS:C1519844 NCIT:C40235 DOID:7878" GO:0090358 "Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid." @@ -12229,30 +12226,30 @@ MONDO:0044299 "Orphanet:590 UMLS:C4479088 OMIM:616224 DOID:0080587" MONDO:0016339 http://identifiers.org/hgnc/13243 UBERON:0003382 -MONDO:0013404 "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels." "SCTID:724039002 UMLS:C3151058 Orphanet:88618 DOID:0111039 GARD:0013177 UMLS:C4510276 ICD10:E72.1 OMIM:613752" -MONDO:0010563 "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia." "Orphanet:16 GARD:0000917 OMIM:303700 DOID:0050679 UMLS:CN036572 ICD10:H53.5 SCTID:24704003 MESH:C536238" +MONDO:0013404 "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels." "SCTID:724039002 UMLS:C3151058 Orphanet:88618 ICD10CM:E72.1 DOID:0111039 GARD:0013177 UMLS:C4510276 OMIM:613752" +MONDO:0010563 "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia." "ICD10CM:H53.5 Orphanet:16 GARD:0000917 OMIM:303700 DOID:0050679 UMLS:CN036572 SCTID:24704003 MESH:C536238" MONDO:0004081 "A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells." "NCIT:C5775 DOID:7032 UMLS:C0861855" -MONDO:0019642 "Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." "OMIM:277440 OMIM:600785 NCIT:C131077 SCTID:72831007 Orphanet:93160 ICD10:E83.3" -MONDO:0017536 "Orphanet:295173 ICD10:Q69.0" +MONDO:0019642 "Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." "OMIM:277440 ICD10CM:E83.3 OMIM:600785 NCIT:C131077 SCTID:72831007 Orphanet:93160" +MONDO:0017536 "Orphanet:295173 ICD10CM:Q69.0" MONDO:0016340 "An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome." "Orphanet:217635 OMIMPS:115210 SCTID:233878008 ICD9:425.4" http://identifiers.org/hgnc/8819 MONDO:0014635 "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene." "UMLS:C4225330 OMIM:616428 Orphanet:98938" -MONDO:0019935 "Orphanet:96325 ICD10:Q98.6" +MONDO:0019935 "Orphanet:96325 ICD10CM:Q98.6" UBERON:0002184 GO:0099568 "Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm." CHEBI:30411 "A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified." http://identifiers.org/hgnc/11948 -MONDO:0019345 "Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts." "ICD10:A03 EFO:0005585 MedDRA:10054178 ICD9:004.1 ICD9:004.3 MedDRA:10017915 ICD10:A03.2 ICD10:A03.8 DOID:12385 Orphanet:810 ICD9:004 ICD9:004.0 ICD9:004.2 ICD10:A03.1 SCTID:36188001 ICD9:004.9 MESH:D004405 GARD:0004818 KEGG:05131 ICD10:A03.0 ICD10:A03.3 ICD10:A03.9" +MONDO:0019345 "Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts." "EFO:0005585 ICD10CM:A03.9 MedDRA:10054178 ICD9:004.1 ICD9:004.3 MedDRA:10017915 ICD10CM:A03 ICD10CM:A03.1 ICD10CM:A03.3 DOID:12385 Orphanet:810 ICD10CM:A03.8 ICD9:004 ICD9:004.0 ICD9:004.2 SCTID:36188001 ICD9:004.9 ICD10CM:A03.0 ICD10CM:A03.2 MESH:D004405 GARD:0004818 KEGG:05131" MONDO:0005790 "Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water." "DOID:12549 NCIT:C3096 MESH:D006506 UMLS:C0019159 SCTID:40468003 EFO:0007305" MONDO:0016338 "UMLS:CN226906 Orphanet:217629" GO:0000003 "The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms." -MONDO:0002572 "Inflammation of the lungs due to the inhalation of solid or liquid material." "ICD10:J69.0 DOID:3240 NCIT:C34932 UMLS:C1761609 SCTID:155597006" +MONDO:0002572 "Inflammation of the lungs due to the inhalation of solid or liquid material." "DOID:3240 NCIT:C34932 UMLS:C1761609 SCTID:155597006" UBERON:0016549 UBERON:0003381 -MONDO:0005808 "Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery." "ICD9:077.98 GARD:0006777 ICD10:A74.0 SCTID:231861005 NCIT:C116817 DOID:13800 EFO:0007324 MESH:D003235 ICD9:077.0 UMLS:C0009770" +MONDO:0005808 "Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery." "ICD9:077.98 GARD:0006777 SCTID:231861005 NCIT:C116817 ICD10CM:A74.0 DOID:13800 EFO:0007324 MESH:D003235 ICD9:077.0 UMLS:C0009770" GO:0002689 "Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte chemotaxis." MONDO:0002236 "A benign or malignant neoplasm affecting the structures of the eye." "ICD9:239.89 NCIT:C3030 NCIT:C4767 SCTID:371486001 DOID:2174 MESH:D005134 ICD9:190.8" -MONDO:0017537 "Orphanet:295175 ICD10:Q69.2" +MONDO:0017537 "Orphanet:295175 ICD10CM:Q69.2" GO:0016836 "Catalysis of the cleavage of a carbon-oxygen bond by elimination of water." MONDO:0002250 "A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function." "SCTID:64009001 UMLS:C0004812 ICD9:435.0 DOID:223 NCIT:C34413" UBERON:0002183 @@ -12260,8 +12257,8 @@ GO:0001906 "Any process in an organism that results in the killing of its own ce http://identifiers.org/hgnc/11947 GO:0005887 "The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane." MONDO:0021164 "An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis." "UMLS:C0235640 SCTID:44318002" -MONDO:0018749 "Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." "HGNC:3627 OMIM:613566 OMIM:141749 Orphanet:46532 UMLS:CN205122 ICD10:D56.4 HGNC:5153 OMIM:142470" -MONDO:0007606 "Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." "ICD10:M61.1 OMIM:135100 ICD10:M61.10 DOID:13374 NCIT:C3040 ICD9:728.11 MedDRA:10068715 UMLS:C0016037 SCTID:82725007 Orphanet:337 GARD:0006445" +MONDO:0018749 "Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." "HGNC:3627 OMIM:613566 OMIM:141749 Orphanet:46532 UMLS:CN205122 HGNC:5153 OMIM:142470" +MONDO:0007606 "Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." "OMIM:135100 DOID:13374 NCIT:C3040 ICD9:728.11 MedDRA:10068715 UMLS:C0016037 SCTID:82725007 Orphanet:337 GARD:0006445" http://identifiers.org/hgnc/4010 GO:0001773 "The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor." MONDO:0000804 "OBSOLETE. A allergy involving a Litopenaeus schmitti." "DOID:0060529" @@ -12271,36 +12268,36 @@ MONDO:0019965 "OBSOLETE. Any of the forms of ovarian benign neoplasm that have a GO:2000216 "Any process that activates or increases the frequency, rate or extent of proline metabolic process." MONDO:0043099 "UMLS:C2931100 GARD:0002736 MESH:C536067" GO:0002826 "Any process that stops, prevents, or reduces the frequency, rate, or extent of a T-helper 1 type immune response." -MONDO:0007294 "An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation." "ICD10:G71.2 GARD:0006014 Orphanet:178145 SCTID:43152001 NCIT:C83010 Orphanet:598 MESH:D020512 EFO:1000855 UMLS:C0751951 Orphanet:597 OMIM:117000 DOID:3529" +MONDO:0007294 "An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation." "GARD:0006014 Orphanet:178145 SCTID:43152001 NCIT:C83010 Orphanet:598 MESH:D020512 ICD10CM:G71.2 EFO:1000855 UMLS:C0751951 Orphanet:597 OMIM:117000 DOID:3529" MONDO:0010694 "UMLS:C1839579 GARD:0009605 MESH:C564088 OMIM:310800" -MONDO:0008893 "C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." "Orphanet:1308 OMIM:211750 UMLS:C0796095 SCTID:715409005 MESH:C537418 ICD10:Q87.8 GARD:0005978 DOID:0111581" +MONDO:0008893 "C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability." "Orphanet:1308 OMIM:211750 UMLS:C0796095 SCTID:715409005 ICD10CM:Q87.8 MESH:C537418 GARD:0005978 DOID:0111581" MONDO:0005523 "Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero." "DOID:1701 EFO:0005590 UMLS:C1257809 MESH:D043202" MONDO:0002219 "A neoplasm (disease) that involves the paraurethral gland." "DOID:2139 ICD9:239.5 UMLS:C0341766 SCTID:126884005" GO:0009185 "The chemical reactions and pathways involving a ribonucleoside diphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with diphosphate on the sugar." http://identifiers.org/hgnc/4277 -MONDO:0016764 "Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit." "OMIM:613517 ICD10:Q11.1 OMIM:611038 ICD10:Q11.2 OMIM:613704 OMIM:613094 OMIM:251600 UMLS:CN202019 GARD:0012085 OMIM:156850 ICD10:Q11.0 Orphanet:2542 OMIM:610093 OMIM:615113" +MONDO:0016764 "Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit." "OMIM:613517 OMIM:611038 OMIM:613704 OMIM:613094 ICD10CM:Q11.1 ICD10CM:Q11.0 OMIM:251600 UMLS:CN202019 GARD:0012085 OMIM:156850 Orphanet:2542 OMIM:610093 OMIM:615113 ICD10CM:Q11.2" http://identifiers.org/hgnc/1516 -MONDO:0020083 "UMLS:CN206985 ICD10:D47.9 Orphanet:98290" +MONDO:0020083 "ICD10CM:D47.9 UMLS:CN206985 Orphanet:98290" MONDO:0010509 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene." "OMIM:300983 UMLS:C4310817" GO:1900132 "Any process that activates or increases the frequency, rate or extent of lipid binding." http://identifiers.org/hgnc/7881 MONDO:0009733 "Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis." "OMIM:256370 GARD:0003547 NCIT:C121198 DOID:0080383" MONDO:0007036 "A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet." "DOID:6686 MESH:C536012 GARD:0008176 UMLS:C1332135 OMIM:100700 NCIT:C35809" -MONDO:0012004 "Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors." "Orphanet:143 SCTID:363481002 ONCOTREE:PTHC EFO:1000456 SCTID:255037004 DOID:1540 ICD9:194.1 NCIT:C3313 ICD10:C75.0 SCTID:127020005 OMIM:608266 NCIT:C9322 NCIT:C4906 GARD:0007329" +MONDO:0012004 "Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors." "Orphanet:143 SCTID:363481002 ONCOTREE:PTHC EFO:1000456 SCTID:255037004 DOID:1540 ICD9:194.1 NCIT:C3313 SCTID:127020005 OMIM:608266 NCIT:C9322 ICD10CM:C75.0 NCIT:C4906 GARD:0007329" http://identifiers.org/hgnc/2714 -MONDO:0019882 "Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures)." "Orphanet:96100 SCTID:763277009 ICD10:Q92.3" +MONDO:0019882 "Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures)." "Orphanet:96100 SCTID:763277009" CL:0013000 -MONDO:0019951 "Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." "Orphanet:97244 MESH:C535683 GARD:0004723 OMIM:602771 ICD10:G71.2" +MONDO:0019951 "Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." "Orphanet:97244 MESH:C535683 ICD10CM:G71.2 GARD:0004723 OMIM:602771" MONDO:0013190 "Orphanet:331 OMIM:613235 MESH:C567688" http://identifiers.org/hgnc/26401 http://identifiers.org/hgnc/4012 CHEBI:33704 "An amino acid in which the amino group is located on the carbon atom at the position alpha to the carboxy group." HP:0041051 "A rare condition that is characterized by a complete loss of taste function of the tongue." GO:0070293 "A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686)." -MONDO:0020084 "Orphanet:98291 UMLS:CN206986 ICD10:D47.9" +MONDO:0020084 "Orphanet:98291 ICD10CM:D47.9 UMLS:CN206986" MONDO:0003410 "A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells." "UMLS:C1516419 NCIT:C40254 DOID:5368" MONDO:0008861 "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene." "MESH:C535308 OMIM:210200 Orphanet:6 UMLS:C0268600 UMLS:CN028786 DOID:0080579 GARD:0005665" -MONDO:0006848 "The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." "MESH:D011502 SCTID:29740003 UMLS:C0086588 ICD10:E41 ICD9:261 MedDRA:10026820 DOID:12328 EFO:1001033" +MONDO:0006848 "The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." "MESH:D011502 SCTID:29740003 ICD10CM:E41 UMLS:C0086588 ICD9:261 MedDRA:10026820 DOID:12328 EFO:1001033" GO:1902262 "Any apoptotic process that is involved in blood vessel morphogenesis." MONDO:0000858 "DOID:0080072 UMLS:C0345244 OMIM:243180 OMIM:601223 ICD9:751.5 SCTID:253783001" UBERON:0002180 @@ -12314,14 +12311,14 @@ MONDO:0030705 "Infection of the prostate gland caused by Trichomonas vaginalis." NCBITaxon:1980456 "GC_ID:1" http://identifiers.org/hgnc/4279 UBERON:0019042 -MONDO:0018449 "Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior." "UMLS:CN226194 ICD10:C64 Orphanet:404514" -MONDO:0012465 "The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI." "OMIM:610293 ICD10:E88.8 SCTID:724344004 UMLS:C4510605 Orphanet:83639 GARD:0009965 UMLS:C1853205" +MONDO:0018449 "Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior." "UMLS:CN226194 ICD10CM:C64 Orphanet:404514" +MONDO:0012465 "The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI." "OMIM:610293 ICD10CM:E88.8 SCTID:724344004 UMLS:C4510605 Orphanet:83639 GARD:0009965 UMLS:C1853205" MONDO:0100402 "Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)" "NCIT:C168770" -MONDO:0024297 "OBSOLETE. A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances." "MESH:D009750 ICD10:E00.E90 UMLS:C0028715" +MONDO:0024297 "OBSOLETE. A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances." "MESH:D009750 ICD10CM:E00-E90 UMLS:C0028715" MONDO:0010695 "OMIM:310900" -MONDO:0010196 "Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." "GARD:0007885 UMLS:C0043119 DOID:5688 Orphanet:902 NCIT:C3447 OMIM:277700 MESH:D014898 SCTID:51626007 ICD9:259.8 ICD10:E34.8 MedDRA:10049429" +MONDO:0010196 "Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." "GARD:0007885 UMLS:C0043119 DOID:5688 Orphanet:902 NCIT:C3447 OMIM:277700 MESH:D014898 SCTID:51626007 ICD9:259.8 ICD10CM:E34.8 MedDRA:10049429" MONDO:0043096 "Orphanet:2161 GARD:0002720 SCTID:41049003" -MONDO:0007383 "Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait." "Orphanet:3194 SCTID:723584003 GARD:0001531 MESH:C537488 OMIM:122440 ICD10:H18.5" +MONDO:0007383 "Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait." "Orphanet:3194 ICD10CM:H18.5 SCTID:723584003 GARD:0001531 MESH:C537488 OMIM:122440" MONDO:0000307 "A disease caused by infection with Ichthyosporea." "DOID:0050291" MONDO:0005213 "A carcinoma involving a uterus." "SCTID:446022000 EFO:0002919 UMLS:C2960452" MONDO:0032908 "OMIM:618774" @@ -12331,7 +12328,7 @@ MONDO:0002950 "A morphologic variant of basal cell carcinoma characterized by th MONDO:0013192 "OMIM:613238 DOID:0080605" MONDO:0004345 "A malignant peripheral nerve sheath tumor occurring in children." "NCIT:C8094 UMLS:C0279987 DOID:7732" MONDO:0000855 -MONDO:0018504 "A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation." "NCIT:C5476 ICD10:C16.0 ICD10:C16.2 ICD10:C16.8 ONCOTREE:USTAD SCTID:766757006 ICD10:C16.4 ICD10:C16.6 UMLS:C1336858 ICD10:C16.1 UMLS:CN237509 ICD10:C16.3 Orphanet:423786 ICD10:C16.5" +MONDO:0018504 "A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation." "NCIT:C5476 ONCOTREE:USTAD SCTID:766757006 UMLS:C1336858 UMLS:CN237509 Orphanet:423786" MONDO:0033006 "OMIM:301006 UMLS:CN570502 DOID:0080244 Orphanet:2065" UBERON:0016542 CHEBI:64996 "A lipoxygenase inhibitor that interferes with the action of arachidonate 15-lipoxygenase (EC 1.13.11.33)." @@ -12343,10 +12340,10 @@ MONDO:0002151 MONDO:0032907 "OMIM:618773" CHEBI:78675 "Any metabolite produced by all living cells." MONDO:0042967 "A rheumatologic disorder that involves the mitral valve." "UMLS:C0264765 SCTID:83898004" -MONDO:0056798 "A disease or disorder that involves the vermiform appendix." "ICD9:543.9 SCTID:18526009 UMLS:C0267613 DOID:60000" +MONDO:0056798 "A disease or disorder that involves the vermiform appendix." "ICD9:543.9 SCTID:18526009 UMLS:C0267613 ICD10CM:K35-K38 DOID:60000" MONDO:0001370 "Fluid collection within the pericardial sac, usually due to inflammation." "UMLS:C0031039 SCTID:373945007 DOID:118 HP:0001698 NCIT:C3319" GO:0051198 "OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme." -MONDO:0011895 "SCTID:423294001 UMLS:C0206141 Orphanet:3260 ICD10:D47.5 OMIM:607685" +MONDO:0011895 "SCTID:423294001 UMLS:C0206141 Orphanet:3260 OMIM:607685" MONDO:0012067 "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene." "OMIM:608584 UMLS:C1837811" MONDO:0016788 "OBSOLETE. Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype." "SCTID:766929007 Orphanet:254704" MONDO:0000854 @@ -12357,7 +12354,7 @@ HP:0100324 "A chronic autoimmune phenomenon characterized by fibrosis (or harden NCBITaxon:34502 "GC_ID:1" GO:0060623 "Any process that modulates the rate, frequency, or extent of chromosome condensation, the progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells." GO:2000083 "Any process that stops, prevents, or reduces the frequency, rate or extent of L-ascorbic acid biosynthetic process." -MONDO:0010187 "Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." "OMIM:277450 ICD10:D68.2 OMIM:607473 SCTID:724356003 Orphanet:98434 UMLS:C1848534 MESH:C564741" +MONDO:0010187 "Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." "OMIM:277450 OMIM:607473 SCTID:724356003 Orphanet:98434 UMLS:C1848534 MESH:C564741 ICD10CM:D68.2" MONDO:0043094 "GARD:0002355 SCTID:238627002" MONDO:0004355 "An acute or chronic leukemia that occurs during childhood." "NCIT:C4989 UMLS:C1332977 DOID:7757" http://identifiers.org/hgnc/2718 @@ -12366,8 +12363,8 @@ MONDO:0000561 "An autosomal recessive form of spinocerebellar ataxia caused by m MONDO:0034204 "Orphanet:563708" MONDO:0010697 "MESH:C564087 UMLS:C1839577 OMIM:311000" GO:0002784 "Any process that modulates the frequency, rate, or extent of antimicrobial peptide production." -MONDO:0002152 "UMLS:C0152210 ICD9:378.20 ICD10:H50.30 ICD10:H50.3 ICD9:378.2 DOID:1942 SCTID:74025007" -MONDO:0017113 "Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression." "Orphanet:269221 ICD10:Q04.3" +MONDO:0002152 "UMLS:C0152210 ICD9:378.20 ICD9:378.2 DOID:1942 SCTID:74025007" +MONDO:0017113 "Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression." "ICD10CM:Q04.3 Orphanet:269221" http://identifiers.org/hgnc/19321 GO:1901857 "Any process that activates or increases the frequency, rate or extent of cellular respiration." HsapDv:0000126 "Adult stage that refers to an adult who is over 32 and under 33." @@ -12375,43 +12372,43 @@ MONDO:0000853 MONDO:0024474 "A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia)." "NCIT:C8366" UBERON:0016540 MONDO:0011898 "Orphanet:101097 OMIM:607706 UMLS:C1843183" -MONDO:0018261 "NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period." "ICD10:Q84.8 Orphanet:370059 UMLS:CN204836" +MONDO:0018261 "NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period." "ICD10CM:Q84.8 Orphanet:370059 UMLS:CN204836" MONDO:0020080 HP:0004332 "An abnormality of lymphocytes." "UMLS:C0427546 SNOMEDCT_US:250284007" -MONDO:0010839 "Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated." "OMIM:600175 DOID:0111215 Orphanet:1216 ICD10:G12.2 MESH:C563981 SCTID:763067000 UMLS:C1838492" +MONDO:0010839 "Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated." "OMIM:600175 DOID:0111215 Orphanet:1216 MESH:C563981 ICD10CM:G12.2 SCTID:763067000 UMLS:C1838492" MONDO:0033008 "OMIM:617730 Orphanet:2065 DOID:0080246 UMLS:CN570506" NCBITaxon:34503 "GC_ID:1" MONDO:0033009 "DOID:0080247 OMIM:617731 Orphanet:2065 UMLS:CN570507" -MONDO:0007784 "Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema." "ICD10:E05.8 UMLS:C1840364 Orphanet:165994 MESH:C564154 DOID:0111374 OMIM:145650" +MONDO:0007784 "Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema." "UMLS:C1840364 Orphanet:165994 MESH:C564154 ICD10CM:E05.8 DOID:0111374 OMIM:145650" GO:1903578 "Any process that modulates the frequency, rate or extent of ATP metabolic process." -MONDO:0011414 "Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." "GARD:0007377 MESH:C537884 HP:0000659 SCTID:204153003 OMIM:612968 DOID:0060673 MedDRA:10059202 ICD9:743.44 ICD10:Q13.4 Orphanet:708 OMIM:604229" -MONDO:0001422 "An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache." "ICD9:255.12 SCTID:190507007 ICD10:E26.01 NCIT:C34510 DOID:12028 ICD10:E26.0" +MONDO:0011414 "Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." "GARD:0007377 MESH:C537884 HP:0000659 SCTID:204153003 OMIM:612968 DOID:0060673 MedDRA:10059202 ICD9:743.44 ICD10CM:Q13.4 Orphanet:708 OMIM:604229" +MONDO:0001422 "An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache." "ICD9:255.12 SCTID:190507007 ICD10CM:E26.0 NCIT:C34510 DOID:12028" MONDO:0013194 "OMIM:613241" CL:1001111 "KUPO:0001054" -MONDO:0005146 "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." "EFO:0001358 ICD10:F43.1 MESH:D013313 OMIM:608627 NIFSTD:birnlex_12679 ICD10:F43.10 SCTID:47505003 ICD9:309.81 NCIT:C3389 DOID:2055" +MONDO:0005146 "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." "EFO:0001358 MESH:D013313 OMIM:608627 NIFSTD:birnlex_12679 SCTID:47505003 ICD9:309.81 NCIT:C3389 DOID:2055" MONDO:0032909 "OMIM:618775" -MONDO:0015237 "Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia." "ICD10:Q30.1 MESH:C537438 GARD:0000364 Orphanet:1134 SCTID:111317000 ICD9:748.1" +MONDO:0015237 "Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia." "MESH:C537438 GARD:0000364 Orphanet:1134 SCTID:111317000 ICD9:748.1 ICD10CM:Q30.1" MONDO:0100258 "Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene." MONDO:0009062 "A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991." "OMIM:219721 MESH:C537039 GARD:0003303 Orphanet:2575 SCTID:720401009" -MONDO:0021506 "A benign neoplasm that involves the spinal cord." "SCTID:92405007 ICD10:D33.4 ICD9:225.3 UMLS:C0154034 NCIT:C3627" +MONDO:0021506 "A benign neoplasm that involves the spinal cord." "SCTID:92405007 ICD9:225.3 UMLS:C0154034 ICD10CM:D33.4 NCIT:C3627" http://identifiers.org/hgnc/4017 MONDO:0000852 FOODON:00002507 "Taurine cattle (Bos taurus taurus), also called European cattle, are a subspecies of domesticated cattle originating in the Near East. Both taurine cattle and indicine cattle (zebus) are descended from the aurochs. Taurine cattle were originally considered a distinct species, but are now typically grouped with zebus and aurochs into one species, Bos taurus. Most modern breeds of cattle are taurine cattle."@en GO:0048818 "Any process that activates or increases the frequency, rate or extent of hair follicle maturation." http://identifiers.org/hgnc/26404 -MONDO:0007282 "A cataract that has material basis in variation in the region 2pter-p24." "DOID:0110232 ICD10:Q12.0 UMLS:C3805409 Orphanet:91492 OMIM:115800 Orphanet:98990" +MONDO:0007282 "A cataract that has material basis in variation in the region 2pter-p24." "DOID:0110232 UMLS:C3805409 Orphanet:91492 OMIM:115800 Orphanet:98990" MONDO:0020081 "UMLS:CN206983 Orphanet:98288" -MONDO:0006828 "An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma." "ICD9:446.3 ICD10:M31.2 MESH:D006103 EFO:1001013 MedDRA:10024255 NCIT:C8196 DOID:9072" +MONDO:0006828 "An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma." "ICD9:446.3 MESH:D006103 EFO:1001013 MedDRA:10024255 ICD10CM:M31.2 NCIT:C8196 DOID:9072" MONDO:0033007 "DOID:0080245 OMIM:617729 UMLS:CN570505 Orphanet:2065" NCBITaxon:34504 "GC_ID:1" MONDO:0001640 "An spondylitis caused by infection with Neisseria gonorrhoeae." "ICD9:098.53 SCTID:53664003 DOID:13127 UMLS:C0153219" MONDO:0010433 "OMIM:300809" GO:0120025 "A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon." MONDO:0006988 "A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)" "EFO:1001200 MedDRA:10042481 UMLS:C0038732 SCTID:32117000 DOID:12451 MESH:D013436" -MONDO:0018458 "Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." "ICD10:E83.5 OMIM:145980 DOID:0060699 SCTID:237885008 GARD:0010828 UMLS:C1809471 NCIT:C123262 OMIM:600740 OMIMPS:145980 UMLS:C0342637 Orphanet:405 OMIM:145981" -MONDO:0013781 "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene." "Orphanet:757 ICD10:I15.1 OMIM:614495 Orphanet:300525 UMLS:C3469605" +MONDO:0018458 "Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." "OMIM:145980 DOID:0060699 SCTID:237885008 ICD10CM:E83.5 GARD:0010828 UMLS:C1809471 NCIT:C123262 OMIM:600740 OMIMPS:145980 UMLS:C0342637 Orphanet:405 OMIM:145981" +MONDO:0013781 "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene." "ICD10CM:I15.1 Orphanet:757 OMIM:614495 Orphanet:300525 UMLS:C3469605" http://identifiers.org/hgnc/6413 -MONDO:0009891 "Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production." "OMIM:263300 ICD10:D45 MedDRA:10036057 ONCOTREE:PV EFO:0002429 MESH:D011087 DOID:8997 ICD9:238.4 Orphanet:729 GARD:0007422 ICDO:9950/3 NCIT:C3336 UMLS:C0032463" +MONDO:0009891 "Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production." "OMIM:263300 MedDRA:10036057 ONCOTREE:PV EFO:0002429 MESH:D011087 ICD10CM:D37-D48 ICD10CM:D45 DOID:8997 ICD9:238.4 Orphanet:729 GARD:0007422 ICDO:9950/3 NCIT:C3336 UMLS:C0032463" MONDO:0016341 "Orphanet:217638 UMLS:CN201171" MONDO:0005035 "A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular." "ICD9:171.9 MedDRA:10017708 SCTID:116381000119105 Orphanet:251877 ICDO:9490/3 EFO:0000502 UMLS:C0206718 NCIT:C3790 DOID:4163 HP:0006747 ONCOTREE:GNBL NIFSTD:birnlex_12633" UBERON:0016550 @@ -12420,19 +12417,19 @@ MONDO:0032904 "OMIM:618767" http://identifiers.org/hgnc/9173 http://identifiers.org/hgnc/7610 MONDO:0007105 "Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene." "Orphanet:275872 OMIM:105550 UMLS:C3888102 UMLS:C1862937 DOID:0060213" -MONDO:0018965 "A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities." "OMIM:104200 ICD10:Q87.8 MedDRA:10001843 DOID:10983 NCIT:C34842 OMIMPS:301050 OMIM:203780 ICD10:Q87.81 UMLS:C1567741 Orphanet:63 OMIM:301050" +MONDO:0018965 "A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities." "OMIM:104200 MedDRA:10001843 DOID:10983 NCIT:C34842 OMIMPS:301050 OMIM:203780 ICD10CM:Q87.8 ICD10CM:Q87.81 UMLS:C1567741 Orphanet:63 OMIM:301050" http://identifiers.org/hgnc/1786 -MONDO:0009007 "Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD)." "ICD10:H35.5 UMLS:C3495589 MESH:C000596385 OMIM:217080 Orphanet:1873 SCTID:707608003 GARD:0001463 DOID:0111404 UMLS:CN200616 ICD9:520.5 ICD9:362.75" +MONDO:0009007 "Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD)." "UMLS:C3495589 MESH:C000596385 ICD10CM:H35.5 OMIM:217080 Orphanet:1873 SCTID:707608003 GARD:0001463 DOID:0111404 UMLS:CN200616 ICD9:520.5 ICD9:362.75" http://identifiers.org/hgnc/7876 MONDO:0044811 "Torsion dystonia for which no underlying cause has been identified." "SCTID:22451001 ICD9:333.6 NCIT:C34564" MONDO:0012962 "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene." "OMIM:612623" ENVO:01001836 "A biome which is subject to montane altitudinal conditions." -MONDO:0017013 "Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported." "MESH:C538019 ICD10:Q92.2 Orphanet:264450" +MONDO:0017013 "Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported." "ICD10CM:Q92.2 MESH:C538019 Orphanet:264450" http://identifiers.org/hgnc/32550 -MONDO:0016718 "A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)" "ONCOTREE:CPC Orphanet:251899 GARD:0008238 SCTID:188292007 OMIM:260500 MESH:C562943 NCIT:C4533 ICD10:C71.7 NCIT:C4715 ICDO:9390/3 MedDRA:10067478 DOID:5648" +MONDO:0016718 "A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)" "ONCOTREE:CPC Orphanet:251899 GARD:0008238 SCTID:188292007 OMIM:260500 MESH:C562943 ICD10CM:C71.7 NCIT:C4533 NCIT:C4715 ICDO:9390/3 MedDRA:10067478 DOID:5648" http://identifiers.org/hgnc/4281 MONDO:0005401 "A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "NCIT:C9242 UMLS:C0009375 EFO:0004288 NCIT:C2953 MESH:D003110" -MONDO:0009612 "Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-." "DOID:0060740 Orphanet:79312 Orphanet:27 GARD:0003586 ICD10:E71.1 OMIM:251000 Orphanet:289916 UMLS:C1855114 NCIT:C148366" +MONDO:0009612 "Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-." "DOID:0060740 Orphanet:79312 Orphanet:27 ICD10CM:E71.1 GARD:0003586 OMIM:251000 Orphanet:289916 UMLS:C1855114 NCIT:C148366" MONDO:0005883 "Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve." "MESH:D006563 GARD:0009721 SCTID:87513003 UMLS:C0019364 ICD9:053.29 EFO:0007403" NCBITaxon:121752 "GC_ID:1" UBERON:0016551 @@ -12445,35 +12442,35 @@ http://identifiers.org/hgnc/1785 MONDO:0006942 MONDO:0037250 "A neoplasm that arises from the testis during childhood." "NCIT:C5053" MONDO:0015142 -MONDO:0007920 "A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty." "GARD:3324 Orphanet:90186 OMIM:153200 MedDRA:10027138 SCTID:400040008 ICD10:Q82.0 MESH:C562467 GARD:0003324 DOID:0070213" +MONDO:0007920 "A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty." "GARD:3324 Orphanet:90186 OMIM:153200 ICD10CM:Q82.0 MedDRA:10027138 SCTID:400040008 MESH:C562467 GARD:0003324 DOID:0070213" HP:0010995 "Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation." "UMLS:C4023606" GO:0097755 "OBSOLETE. Any process that increases the diameter of blood vessels." NCIT:C43431 "An active process; excludes processes and mechanisms which fulfill biological functions." -MONDO:0019623 "Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." "DOID:14735 NCIT:C84758 Orphanet:91378 ICD10:D84.1 GARD:0005979 MedDRA:10019860 OMIM:106100 UMLS:CN239191 MESH:D054179 OMIMPS:106100 UMLS:C0019243 SCTID:82966003 OMIM:610618" +MONDO:0019623 "Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." "DOID:14735 NCIT:C84758 Orphanet:91378 GARD:0005979 MedDRA:10019860 ICD10CM:D84.1 OMIM:106100 UMLS:CN239191 MESH:D054179 OMIMPS:106100 UMLS:C0019243 SCTID:82966003 OMIM:610618" http://identifiers.org/hgnc/6677 HP:0001396 "Impairment of bile flow due to obstruction in bile ducts." "SNOMEDCT_US:33688009 SNOMEDCT_US:197446008 UMLS:C0008370 SNOMEDCT_US:30144000 MSH:D002779" FOODON:03420177 "Extract, concentrate or isolate high in gluten, the predominant protein of wheat or corn."@en "http://www.langual.org/langual_thesaurus.asp?termid=C0177" MONDO:0032906 "OMIM:618770" MONDO:0030507 "OMIM:619672" HP:0002242 "An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine." "SNOMEDCT_US:85919009 UMLS:C0021831 MSH:D007410" -MONDO:0003301 "A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora." "SCTID:254770007 DOID:5147 NCIT:C4483 ICD9:215.9 UMLS:C0346066" +MONDO:0003301 "A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora." "SCTID:254770007 DOID:5147 ICD9:215.9 NCIT:C4483 UMLS:C0346066" http://identifiers.org/hgnc/3084 MONDO:0020605 "X-linked recessive form of disease." "DOID:0080012" MONDO:0009807 "A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs." "SCTID:307576001 DOID:3347 ICDO:9180/3 NCIT:C9145 ONCOTREE:OS EFO:0000637 HP:0002669" MONDO:0006943 UBERON:0009472 -MONDO:0002025 "A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia." "MESH:D001523 DOID:150 ICD10:F99 MFOMD:0000004 NCIT:C2893 ICD10:F99-F99" +MONDO:0002025 "A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia." "MESH:D001523 DOID:150 ICD10CM:F01-F99 MFOMD:0000004 NCIT:C2893 ICD10CM:F40-F48" http://identifiers.org/hgnc/5213 http://identifiers.org/hgnc/4283 CL:0000095 MONDO:0006095 "A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism." "EFO:1000097 UMLS:C0391970 UMLS:C1266032 NCIT:C72074 SCTID:445238008" -MONDO:0008155 "Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." "Orphanet:2777 GARD:0000391 ICD10:Q78.2 MESH:C537792 OMIM:166450 SCTID:254125009 UMLS:C0432264" +MONDO:0008155 "Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." "Orphanet:2777 GARD:0000391 MESH:C537792 OMIM:166450 SCTID:254125009 UMLS:C0432264 ICD10CM:Q78.2" GO:0005886 "The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins." MONDO:0021243 "A neoplasm (disease) that involves the parotid gland." "EFO:0003873 SCTID:126788000 NCIT:C3314" MONDO:0001278 "OBSOLETE. A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA." MONDO:0013608 "Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene." "DOID:0110982 UMLS:C3280031 Orphanet:475 OMIM:614173" MONDO:0032905 "OMIM:618768" -MONDO:0018871 "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)" "SCTID:110005000 ONCOTREE:AMML Orphanet:517 MedDRA:10000890 NCIT:C7463 GARD:0000529 ICD10:C92.5 ICDO:9867/3 EFO:0000223 UMLS:C0023479" +MONDO:0018871 "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)" "SCTID:110005000 ONCOTREE:AMML Orphanet:517 MedDRA:10000890 NCIT:C7463 GARD:0000529 ICDO:9867/3 EFO:0000223 UMLS:C0023479" MONDO:0030508 "OMIM:619673" GO:0032222 "Any process that modulates the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine." http://identifiers.org/hgnc/5212 @@ -12482,7 +12479,7 @@ CHR:9606-chr6q1 HP:0003231 "An increased concentration of tyrosine in the blood." "UMLS:C1879362 SNOMEDCT_US:56595005" MONDO:0024505 "OBSOLETE. A broad grouping of diseases based on major body subdivisions." "UMLS:C1290853 SCTID:123946008" MONDO:0006800 "A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)" "SCTID:229706001 EFO:1000980 MESH:D020240 DOID:4627 MedDRA:10021216 ICD9:315.8" -MONDO:0009257 "Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism." "Orphanet:352 SCTID:8849004 OMIM:230350 Orphanet:79238 DOID:0111458 ICD10:E74.2 GARD:0005392" +MONDO:0009257 "Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism." "Orphanet:352 SCTID:8849004 ICD10CM:E74.2 OMIM:230350 Orphanet:79238 DOID:0111458 GARD:0005392" ENVO:01001865 "The concentration of carbon dioxide when measured in air that is part of an atmosphere." http://identifiers.org/hgnc/4284 UBERON:0003118 @@ -12498,10 +12495,10 @@ FOODON:00001094 "SUBSET_SIREN:F5644" MONDO:0002147 UBERON:0004315 http://identifiers.org/hgnc/20318 -MONDO:0005669 "A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft." "UMLS:C0153249 MESH:D010854 SCTID:402135006 SCTID:33666009 ICD10:B36.3 EFO:0007171 UMLS:C0031898 ICD9:111.3 DOID:12711" +MONDO:0005669 "A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft." "UMLS:C0153249 MESH:D010854 SCTID:402135006 SCTID:33666009 ICD10CM:B36.3 EFO:0007171 UMLS:C0031898 ICD9:111.3 DOID:12711" UBERON:0009213 UBERON:0009479 -MONDO:0009579 "Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay." "UMLS:C1855305 SCTID:720958002 MESH:C537274 Orphanet:137834 GARD:0005138 OMIM:249420 DOID:0111789 ICD10:Q87.8" +MONDO:0009579 "Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay." "UMLS:C1855305 SCTID:720958002 MESH:C537274 Orphanet:137834 GARD:0005138 OMIM:249420 ICD10CM:Q87.8 DOID:0111789" MONDO:0700024 "Chromosomal disorder in which chromosome 19 is affected." http://identifiers.org/hgnc/4285 NCBITaxon:337687 "PMID:15371245 PMID:15019624 GC_ID:1" @@ -12509,8 +12506,8 @@ UBERON:0003117 MONDO:0008240 "UMLS:C1868355 MESH:C566803 OMIM:172150" MONDO:0030506 "OMIM:619665" FOODON:00001093 -MONDO:0012784 "This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy." "OMIM:612016 UMLS:C4511089 SCTID:725394006 GARD:0010294 ICD10:G11.1 MESH:C567436 Orphanet:139485 DOID:0070241 UMLS:C2677589" -MONDO:0012541 "Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." "Orphanet:90024 SCTID:702360007 OMIM:610706 GARD:0010707 ICD10:Q16.5 ICD9:759.89 UMLS:C1853144 MESH:C565195" +MONDO:0012784 "This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy." "OMIM:612016 UMLS:C4511089 SCTID:725394006 ICD10CM:G11.1 GARD:0010294 MESH:C567436 Orphanet:139485 DOID:0070241 UMLS:C2677589" +MONDO:0012541 "Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." "Orphanet:90024 SCTID:702360007 OMIM:610706 GARD:0010707 ICD9:759.89 ICD10CM:Q16.5 UMLS:C1853144 MESH:C565195" http://identifiers.org/hgnc/7873 http://identifiers.org/hgnc/3087 http://identifiers.org/hgnc/5476 @@ -12518,7 +12515,7 @@ MONDO:0024482 "A hamartoma characterized by localized eccrine sweat gland malfor MONDO:0000437 "A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways." "ICD9:334.3 MESH:D002524 UMLS:C0087012 DOID:0050753 NCIT:C82341 Orphanet:102002 GARD:0012060 SCTID:85102008" MONDO:0002148 http://identifiers.org/hgnc/2988 -MONDO:0005520 "Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities." "OMIM:600081 OMIM:264700 DOID:10609 OMIM:600785 ICD10:E55.0 SCTID:41345002 GARD:0005700 MESH:D012279 OMIM:277440 UMLS:C0035579 EFO:0005583 ICD9:268.0 Orphanet:289157 NCIT:C26878 HP:0002748" +MONDO:0005520 "Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities." "OMIM:600081 OMIM:264700 DOID:10609 OMIM:600785 SCTID:41345002 GARD:0005700 MESH:D012279 OMIM:277440 UMLS:C0035579 EFO:0005583 ICD9:268.0 Orphanet:289157 NCIT:C26878 HP:0002748" UBERON:0007914 MONDO:0014972 "Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted." "OMIM:617219 UMLS:C4311046" GO:0140352 "The directed movement of some substance from a cell, into the extracellular region. This may occur via transport across the plasma membrane or via exocytosis." @@ -12528,7 +12525,7 @@ http://identifiers.org/hgnc/4286 http://identifiers.org/hgnc/1527 MONDO:0032902 "OMIM:618763" MONDO:0030503 "OMIM:619658" -MONDO:0011405 "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13." "Orphanet:221046 ICD10:D82.8 OMIM:604173 DOID:0060551 GARD:0004085" +MONDO:0011405 "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13." "ICD10CM:D82.8 Orphanet:221046 DOID:0060551 OMIM:604173 GARD:0004085" GO:0010032 "Compaction of chromatin structure prior to meiosis in eukaryotic cells." UBERON:0006717 UBERON:0006716 @@ -12536,7 +12533,7 @@ NCBITaxon:10566 "GC_ID:1" MONDO:0011034 "Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails." "Orphanet:1811 UMLS:C1832473 GARD:0004053 MESH:C537741 OMIM:601319" MONDO:0010692 "OMIM:310650" CL:1001611 "Neuron of the cerebellum." "FMA:84665 CALOHA:TS-2359" -MONDO:0008960 "A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease." "SCTID:715666007 Orphanet:90103 OMIM:214370 ICD10:G60.0" +MONDO:0008960 "A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease." "SCTID:715666007 ICD10CM:G60.0 Orphanet:90103 OMIM:214370" MONDO:0004045 "Retinoblastoma during childhood that has not spread beyond the eye." "NCIT:C9047 DOID:6938 UMLS:C1321869" UBERON:0009477 FOODON:00001092 "A food product which is derived from or produced by an animal that has a vertibrae."@en @@ -12550,23 +12547,23 @@ MONDO:0003344 UBERON:0004319 MONDO:0010373 "Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene." "OMIM:300604 MESH:C564476 UMLS:C1845105" GO:1903564 "Any process that modulates the frequency, rate or extent of protein localization to cilium." -MONDO:0011884 "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed." "UMLS:C1843285 ICD10:Q82.8 MESH:C564357 OMIM:607658 SCTID:763658004 Orphanet:307936" +MONDO:0011884 "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed." "UMLS:C1843285 ICD10CM:Q82.8 MESH:C564357 OMIM:607658 SCTID:763658004 Orphanet:307936" http://identifiers.org/hgnc/7871 MONDO:0019927 "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone." "NCIT:C7911 UMLS:C0278864" http://identifiers.org/hgnc/29170 UBERON:0006715 GO:0002377 "The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels." -MONDO:0018649 "OBSOLETE. A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information." "NCIT:C35275 ICD10:H47.6 UMLS:C0234398 SCTID:413924001 UMLS:CN237707 Orphanet:447788" +MONDO:0018649 "OBSOLETE. A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information." "NCIT:C35275 UMLS:C0234398 SCTID:413924001 ICD10CM:H47.6 UMLS:CN237707 Orphanet:447788" CL:0000981 "A memory B cell with the phenotype IgD-negative and CD27-negative." -MONDO:0011224 "Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms." "MESH:C538253 GARD:0009697 UMLS:C1865384 MedDRA:10069681 ICD10:G12.8 EFO:1001989 Orphanet:65684 OMIM:602440" -MONDO:0007043 "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." "DOID:14705 NCIT:C99100 Orphanet:710 GARD:0007380 MESH:D000168 ICD10:Q87.0 UMLS:C0220658 SCTID:70410008 OMIM:101600" +MONDO:0011224 "Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms." "MESH:C538253 GARD:0009697 UMLS:C1865384 MedDRA:10069681 EFO:1001989 Orphanet:65684 ICD10CM:G12.8 OMIM:602440" +MONDO:0007043 "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations." "DOID:14705 NCIT:C99100 Orphanet:710 ICD10CM:Q87.0 GARD:0007380 MESH:D000168 UMLS:C0220658 SCTID:70410008 OMIM:101600" HsapDv:0000124 "Adult stage that refers to an adult who is over 30 and under 31." http://identifiers.org/hgnc/17194 UBERON:0003114 UBERON:0001818 GO:2000824 -MONDO:0011308 "GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." "ICD10:E88.8 DOID:0111455 UMLS:C1864002 MESH:C537934 ICD9:759.89 OMIM:603358 GARD:0000001 Orphanet:53693 SCTID:703388005" -MONDO:0009668 "Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition." "UMLS:C1854678 NCIT:C101038 SCTID:60192008 OMIM:253290 ICD9:759.89 GARD:0003834 ICD10:Q79.8 Orphanet:33108" +MONDO:0011308 "GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." "DOID:0111455 UMLS:C1864002 MESH:C537934 ICD9:759.89 ICD10CM:E88.8 OMIM:603358 GARD:0000001 Orphanet:53693 SCTID:703388005" +MONDO:0009668 "Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition." "UMLS:C1854678 NCIT:C101038 SCTID:60192008 OMIM:253290 ICD9:759.89 ICD10CM:Q79.8 GARD:0003834 Orphanet:33108" MONDO:0033260 "UMLS:CN461628 OMIM:617663 DOID:0080269" GO:0034757 "Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." CL:1000398 "An endothelial cell that is part of the hepatic sinusoid. These cells possess flattened areas containing perforations about 0.1 micrometers in diameter, known as fenestrae. The fenestrae are arranged in groups known as sieve plates." "BTO:000125 FMA:62911" @@ -12574,11 +12571,11 @@ HsapDv:0000138 "Adult stage that refers to an adult who is over 44 and under 45. MONDO:0054716 "DOID:0070281 UMLS:C4540488 OMIM:617800" MONDO:0037847 "A disease that involves the intervertebral joint." "SCTID:372109003" MONDO:0030500 "OMIM:619656" -MONDO:0017546 "Orphanet:295201 ICD10:Q66.8" +MONDO:0017546 "Orphanet:295201 ICD10CM:Q66.8" MONDO:0014602 "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1." "Orphanet:457279 UMLS:C4225354 DOID:0070065 OMIM:616355" CL:0002014 "A basophilic erythroblast that is Lyg 76-high and is Kit-negative." ENVO:01000617 "A lentic water body is a water body in which the accumulated water, in its totality, has very little to no directed flow." -MONDO:0001828 "Non-heritable difficulty in distinguishing colors." "SCTID:71676008 DOID:13912 NCIT:C118712 ICD10:H53.52 ICD9:368.55" +MONDO:0001828 "Non-heritable difficulty in distinguishing colors." "SCTID:71676008 ICD10CM:H53.52 DOID:13912 NCIT:C118712 ICD9:368.55" UBERON:0003379 MONDO:0007049 "UMLS:C1863342 OMIM:102000 MESH:C566322" UBERON:0003113 @@ -12587,8 +12584,7 @@ UBERON:0001817 MONDO:0016348 "Orphanet:218439 UMLS:CN201186" NCBITaxon:5855 "GC_ID:1" CL:0002656 "A glandular epithelial cell of the endometrium." "FMA:86489" -MONDO:0016095 "A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina." "NCIT:C128080 SCTID:766759009 Orphanet:206492 ICD10:C52 UMLS:C4288035" -MONDO:0016963 "Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra(duplicated) copy of genetic material on the long arm (q) of chromosome 13." "Orphanet:262932 GARD:0001929" +MONDO:0016095 "A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina." "NCIT:C128080 SCTID:766759009 Orphanet:206492 ICD10CM:C52 UMLS:C4288035" MONDO:0013200 "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene." "DOID:0110321 MESH:C567681 OMIM:613255 UMLS:C2750459" MONDO:0004082 "An immature teratoma that arises from the ovary and occurs in children." "DOID:7037 UMLS:C1332990 NCIT:C6547" MONDO:0100382 "Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)" "NCIT:C82423 NCIT:C36532" @@ -12597,7 +12593,7 @@ MONDO:0004905 "Inherited or acquired disorders of sugar metabolism. Deficiencies MONDO:0014770 "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene." "UMLS:C4084842 OMIM:616781 DOID:0110994" MONDO:0550003 "Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene." CL:0002072 "A specialized cardiac myocyte in the sinoatrial and atrioventricular nodes. The cell is slender and fusiform confined to the nodal center, circumferentially arranged around the nodal artery." "BTO:0004190 FMA:67101" -MONDO:0017547 "Orphanet:295203 ICD10:Q66.8" +MONDO:0017547 "Orphanet:295203 ICD10CM:Q66.8" http://identifiers.org/hgnc/8818 NCBITaxon:1437197 "PMID:26350789 GC_ID:1" MONDO:0009442 "GARD:0002948 SCTID:235916001 MESH:C562886 OMIM:242400" @@ -12606,31 +12602,31 @@ GO:0120255 "The chemical reactions and pathways resulting in the formation of an http://identifiers.org/hgnc/20577 GO:0032217 "Enables the transfer of riboflavin from one side of a membrane to the other. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins." UBERON:0005777 -MONDO:0015200 "Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum." "GARD:0000693 EFO:0007146 MESH:D017129 Orphanet:1070 SCTID:442652006 ICD9:127.1 ICD10:B81.0 NCIT:C128393 DOID:7033 MedDRA:10002533 UMLS:C0162576" -MONDO:0016995 "Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic." "UMLS:CN202309 ICD10:D32.9 OMIM:607174 Orphanet:263662" +MONDO:0015200 "Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum." "GARD:0000693 EFO:0007146 MESH:D017129 Orphanet:1070 SCTID:442652006 ICD9:127.1 NCIT:C128393 ICD10CM:B81.0 DOID:7033 MedDRA:10002533 UMLS:C0162576" +MONDO:0016995 "Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic." "ICD10CM:D32.9 UMLS:CN202309 OMIM:607174 Orphanet:263662" http://identifiers.org/hgnc/20311 MONDO:0018742 "Orphanet:464756 UMLS:CN242170" MONDO:0008443 "Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression." "UMLS:C1866850 GARD:0004918 Orphanet:2826 MESH:C536874 OMIM:182820" UBERON:0003116 HP:0011226 "Absence or underdevelopment of the eyelid." "UMLS:C4023453" MONDO:0033262 "UMLS:CN388854 OMIM:617609 DOID:0080271" -MONDO:0007235 "Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." "SCTID:449821007 GARD:0003212 Orphanet:1297 ICD10:Q18.8 DOID:0050691 ICD9:759.89 OMIM:113620" +MONDO:0007235 "Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." "SCTID:449821007 GARD:0003212 Orphanet:1297 DOID:0050691 ICD9:759.89 OMIM:113620 ICD10CM:Q18.8" MONDO:0024620 "UMLS:C4303134 SCTID:721765009" MONDO:0036491 "OBSOLETE. An infrequent malignant neoplasm that occurs during childhood." "NCIT:C114451 UMLS:C3828369" http://identifiers.org/hgnc/9179 GO:0018549 "Catalysis of the reaction: methanethiol + O2 + H2O = formaldehyde + hydrogen sulfide + hydrogen peroxide." -MONDO:0019730 "Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases." "ICD10:D89.8 GARD:0006906 NCIT:C7727 SCTID:373604002 Orphanet:93558 UMLS:C0238239" +MONDO:0019730 "Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases." "ICD10CM:D89.8 GARD:0006906 NCIT:C7727 SCTID:373604002 Orphanet:93558 UMLS:C0238239" GO:0001894 "A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function." -MONDO:0015149 "Orphanet:102012 UMLS:C0393555 ICD10:G11.4 SCTID:230260007" +MONDO:0015149 "Orphanet:102012 UMLS:C0393555 ICD10CM:G11.4 SCTID:230260007" GO:0043604 "The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group." -MONDO:0008185 "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." "ICD9:577.8 MESH:C537262 Orphanet:676 SCTID:68072000 ICD10:K86.1 GARD:0006632 NCIT:C95436 OMIM:167800" -MONDO:0019479 "An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes." "MESH:D054747 ONCOTREE:HS SCTID:109988003 ICD9:171.9 ICD10:C96.A UMLS:C0334663 ICDO:9755/3 Orphanet:86896 ICD10:C96.8 NCIT:C27349" +MONDO:0008185 "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." "ICD9:577.8 MESH:C537262 Orphanet:676 ICD10CM:K86.1 SCTID:68072000 GARD:0006632 NCIT:C95436 OMIM:167800" +MONDO:0019479 "An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes." "MESH:D054747 ONCOTREE:HS ICD10CM:C96.A SCTID:109988003 ICD9:171.9 UMLS:C0334663 ICDO:9755/3 Orphanet:86896 NCIT:C27349" MONDO:0006133 "A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present." "UMLS:C1332911 DOID:4867 ONCOTREE:CACC NCIT:C6346 EFO:1000161" PATO:0001562 "A mass which is lower than normal or average." -MONDO:0017544 "ICD10:Q70.1 Orphanet:295191 ICD10:Q70.2 UMLS:CN203276 ICD10:Q70.3 ICD10:Q70.0" +MONDO:0017544 "Orphanet:295191 UMLS:CN203276" MONDO:0003726 "Breast adenosis characterized by the presence of extensive apocrine metaplasia." "NCIT:C5198 UMLS:C1332314 DOID:5999" UBERON:0003115 -MONDO:0018631 "Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." "UMLS:C2931059 Orphanet:444 OMIM:146550 MESH:C535912 ICD10:Q84.0 OMIM:612841 GARD:0003390" +MONDO:0018631 "Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." "UMLS:C2931059 Orphanet:444 OMIM:146550 MESH:C535912 OMIM:612841 GARD:0003390 ICD10CM:Q84.0" MONDO:0011477 "Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene." "MESH:C567036 Orphanet:99798 OMIM:604625 UMLS:C1970291" MONDO:0009440 "GARD:0002946 Orphanet:477 MESH:C537363 UMLS:C1275089 SCTID:403780007 OMIM:242150" MONDO:0018743 "UMLS:CN242076 Orphanet:464764" @@ -12642,22 +12638,22 @@ http://identifiers.org/hgnc/15899 MONDO:0007753 "An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)" "MESH:D013547 SCTID:238758008 EFO:1000940 OMIM:144100 DOID:11599 GARD:0006467" CHEBI:16670 "Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from alpha-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc." UBERON:0004314 -MONDO:0018980 "Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype." "SCTID:720427009 UMLS:CN205418 ICD10:Q75.4 Orphanet:64542" -MONDO:0015148 "Orphanet:102011 ICD10:Q04.3" -MONDO:0017545 "UMLS:CN203277 ICD10:Q70.3 Orphanet:295193" -MONDO:0010926 "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene." "DOID:0060702 MESH:C537147 GARD:0002878 UMLS:C1833372 Orphanet:101050 Orphanet:405 ICD10:E83.5 OMIM:600740" +MONDO:0018980 "Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype." "ICD10CM:Q75.4 SCTID:720427009 UMLS:CN205418 Orphanet:64542" +MONDO:0015148 "ICD10CM:Q04.3 Orphanet:102011" +MONDO:0017545 "UMLS:CN203277 ICD10CM:Q70.3 Orphanet:295193" +MONDO:0010926 "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene." "DOID:0060702 MESH:C537147 GARD:0002878 ICD10CM:E83.5 UMLS:C1833372 Orphanet:101050 Orphanet:405 OMIM:600740" MONDO:0003075 "Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well." "DOID:4650 UMLS:C0854914 NCIT:C8713" CHEBI:63161 "A carbohydrate derivative arising formally from the elimination of water from a glycosidic hydroxy group and an H atom bound to an oxygen, carbon, nitrogen or sulfur atom of a separate entity." GO:0016773 "Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor)." UBERON:0001814 -MONDO:0009167 "Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." "SCTID:733049004 UMLS:C1856973 GARD:0002113 Orphanet:1261 ICD10:Q04.8 OMIM:225755 MESH:C565594" +MONDO:0009167 "Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991." "SCTID:733049004 UMLS:C1856973 GARD:0002113 Orphanet:1261 ICD10CM:Q04.8 OMIM:225755 MESH:C565594" MONDO:0022800 "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene." "GARD:0009246 MESH:C535964 UMLS:CN227672 UMLS:C2931073 HGNC:2200 Orphanet:93421" -MONDO:0019929 "The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." "ICD10:Q98.1 GARD:0005679 ICD9:758.81 Orphanet:96264 UMLS:C0265499 SCTID:38847009" +MONDO:0019929 "The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males." "ICD10CM:Q98.1 GARD:0005679 ICD9:758.81 Orphanet:96264 UMLS:C0265499 SCTID:38847009" http://identifiers.org/hgnc/17198 MONDO:0700034 "Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism." -MONDO:0016846 "Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported." "ICD10:Q92.3 SCTID:764524005 UMLS:CN202187 Orphanet:261337" +MONDO:0016846 "Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported." "SCTID:764524005 UMLS:CN202187 Orphanet:261337" MONDO:0006392 "A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps." "EFO:1000502 NCIT:C5619 UMLS:C1335679" -MONDO:0019168 "Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation." "UMLS:C1704275 GARD:0004614 Orphanet:764 MESH:D052880 ICD10:M60.0 UMLS:C0041188 MedDRA:10037652 SCTID:65110003 DOID:876 NCIT:C128382 EFO:1001409 ICD9:040.81" +MONDO:0019168 "Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation." "UMLS:C1704275 ICD10CM:M60.0 GARD:0004614 Orphanet:764 MESH:D052880 UMLS:C0041188 MedDRA:10037652 SCTID:65110003 DOID:876 NCIT:C128382 EFO:1001409 ICD9:040.81" PATO:0002300 "A quality that has a value that is increased compared to normal or average." MONDO:0016345 "EFO:1001473 Orphanet:217720 UMLS:CN226908" MONDO:0021451 "A benign neoplasm that involves the brain." "NCIT:C4781 SCTID:92030004 ICD9:225.0 EFO:1000107" @@ -12665,18 +12661,18 @@ MONDO:0024626 "UMLS:C0398742 SCTID:234585008" UBERON:0003110 GO:0120032 "Any process that modulates the rate, frequency, or extent of plasma membrane bounded cell projection assembly." CL:0001030 -MONDO:0009607 "Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." "Orphanet:168598 ICD10:E72.1 OMIM:250850 NCIT:C123435 GARD:0008397" +MONDO:0009607 "Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." "Orphanet:168598 ICD10CM:E72.1 OMIM:250850 NCIT:C123435 GARD:0008397" http://identifiers.org/hgnc/9177 -MONDO:0002969 "A malignant neoplasm involving the ciliary body." "UMLS:C0496833 ICD10:C69.4 NCIT:C4766 DOID:4352 SCTID:188263008 NCIT:C4364 UMLS:C0339349" +MONDO:0002969 "A malignant neoplasm involving the ciliary body." "UMLS:C0496833 NCIT:C4766 DOID:4352 SCTID:188263008 NCIT:C4364 UMLS:C0339349" GO:0010822 "Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion." http://identifiers.org/hgnc/18130 -MONDO:0001609 "A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood." "MESH:D000380 DOID:12987 ICD10:D70 SCTID:417672002 NCIT:C2863 ICD9:288.8 UMLS:C0001824 GARD:0006545" +MONDO:0001609 "A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood." "MESH:D000380 DOID:12987 ICD10CM:D70 SCTID:417672002 NCIT:C2863 ICD9:288.8 UMLS:C0001824 GARD:0006545" UBERON:0002178 MONDO:0018272 "OBSOLETE. A small cell carcinoma that involves the ovary." MONDO:0024627 "UMLS:C0398732 SCTID:302874002" MONDO:0015147 "Orphanet:102010 UMLS:CN197489" GO:0005581 "A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures." -MONDO:0017542 "Orphanet:295185 ICD10:Q69.2" +MONDO:0017542 "ICD10CM:Q69.2 Orphanet:295185" ENVO:01001176 "An environment which has its properties and composition largely determined by the presence of a metazoan which lacks a vetebral column and which has a habitat that is found in an aquatic environmental system." UBERON:0004573 MONDO:0009447 "MESH:C565471 UMLS:C1855786 OMIM:242550" @@ -12696,12 +12692,12 @@ MONDO:0008248 "UMLS:C0406515 OMIM:172900 SCTID:20343006 GARD:0007609 MESH:C5371 MONDO:0021316 "A cancer that involves the minor salivary gland." "UMLS:C0345614 SCTID:363485006 NCIT:C4410" http://identifiers.org/hgnc/5218 UBERON:0009471 -MONDO:0017543 "ICD10:Q70.2 ICD10:Q70.1 ICD10:Q70.0 Orphanet:295189 ICD10:Q70.3 UMLS:CN203275" -MONDO:0015146 "ICD10:Q04.3 GARD:0005049 Orphanet:102009" +MONDO:0017543 "Orphanet:295189 UMLS:CN203275" +MONDO:0015146 "ICD10CM:Q04.3 GARD:0005049 Orphanet:102009" HsapDv:0000122 "Adult stage that refers to an adult who is over 28 and under 29." UBERON:0035606 MONDO:0020838 "Infection of the anterior nasal structures by Corynebacterium diphtheriae." "NCIT:C34542 UMLS:C0012553 SCTID:15682004 ICD9:032.2" -MONDO:0009130 "Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias." "ICD10:Q77.7 SCTID:82699004 DOID:0111167 NCIT:C124844 Orphanet:239 GARD:0006295 OMIM:304950 OMIM:223800 UMLS:C0265286" +MONDO:0009130 "Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias." "ICD10CM:Q77.7 SCTID:82699004 DOID:0111167 NCIT:C124844 Orphanet:239 GARD:0006295 OMIM:304950 OMIM:223800 UMLS:C0265286" GO:1904254 "Any process that modulates the frequency, rate or extent of an iron transmembrane transporter activity." UBERON:0003112 UBERON:0001816 @@ -12711,35 +12707,35 @@ MONDO:0016343 "Orphanet:217678" GO:0004559 "Catalysis of the hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides." http://identifiers.org/hgnc/18398 http://identifiers.org/hgnc/6415 -MONDO:0019447 "Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported." "UMLS:C4510874 ICD10:L98.5 SCTID:725148000 Orphanet:86797" +MONDO:0019447 "Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported." "UMLS:C4510874 ICD10CM:L98.5 SCTID:725148000 Orphanet:86797" http://identifiers.org/hgnc/9175 -MONDO:0017228 "Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice." "Orphanet:280315 ICD10:K86.1 UMLS:CN202713" +MONDO:0017228 "Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice." "ICD10CM:K86.1 Orphanet:280315 UMLS:CN202713" MONDO:0015145 "Orphanet:102006" GO:0043368 "The process of sparing immature T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death." -MONDO:0017540 "Orphanet:295181 ICD10:Q69.2" -MONDO:0019460 "An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)" "SCTID:721308005 Orphanet:86851 UMLS:C0023464 OMIM:601626 UMLS:C1301357 ICD10:C95.0 GARD:0008638 NCIT:C7464 MESH:D015456 MedDRA:10067399" +MONDO:0017540 "ICD10CM:Q69.2 Orphanet:295181" +MONDO:0019460 "An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)" "SCTID:721308005 ICD10CM:C95.0 Orphanet:86851 UMLS:C0023464 OMIM:601626 UMLS:C1301357 GARD:0008638 NCIT:C7464 MESH:D015456 MedDRA:10067399" GO:2000823 GO:0060456 "Any process that increases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism." MONDO:0011712 "Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene." "OMIM:606713 UMLS:C1847604 Orphanet:888 MESH:C536529 GARD:0007846" UBERON:0001815 MONDO:0004222 "A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures." "DOID:7438 UMLS:C0279667 NCIT:C7980" ENVO:00000309 "A landform sunken or depressed below the surrounding area." -MONDO:0018162 "Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency." "ICD10:E72.8 Orphanet:35705 UMLS:CN227274" +MONDO:0018162 "Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency." "Orphanet:35705 UMLS:CN227274 ICD10CM:E72.8" UBERON:0003111 -MONDO:0012817 "A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms." "DOID:0050608 DOID:3369 ICD10:C41.2 UMLS:C0684337 Orphanet:319 NCIT:C4817 MESH:D012512 NCIT:C9341 GARD:0006390 ICD10:C40.1 ICD10:C41.3 ICD10:C40.3 Orphanet:2677 OMIM:612219 ICDO:9260/3 EFO:0000174 ICD10:C41.4 ONCOTREE:ES ICD10:C40.0 UMLS:C3489398 ICD10:C40.2 MedDRA:10015560 UMLS:C0553580" +MONDO:0012817 "A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms." "DOID:0050608 DOID:3369 ICD10CM:C41.4 ICD10CM:C41.3 UMLS:C0684337 Orphanet:319 NCIT:C4817 ICD10CM:C40.3 ICD10CM:C40.2 MESH:D012512 NCIT:C9341 GARD:0006390 Orphanet:2677 OMIM:612219 ICDO:9260/3 EFO:0000174 ONCOTREE:ES UMLS:C3489398 ICD10CM:C40.1 ICD10CM:C40.0 MedDRA:10015560 UMLS:C0553580 ICD10CM:C41.2" http://identifiers.org/hgnc/6414 NCBITaxon:196 "PMID:1354478 PMID:11321120 GC_ID:11" GO:0034250 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amides." MONDO:0002451 "A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells." "UMLS:C1335409 UMLS:C1332535 NCIT:C5532 DOID:2885 NCIT:C7574" -MONDO:0009431 "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." "ICD10:E83.3 SCTID:237891005 DOID:0050947 MESH:C562793 NCIT:C131450 OMIM:241530 Orphanet:157215 UMLS:C1853271" -MONDO:0018975 "Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." "MESH:D009456 NCIT:C3273 DOID:0111253 MESH:C538607 GARD:0007866 SCTID:92824003 MedDRA:10047712 OMIM:162210 OMIM:613675 ICD10:Q85.0 Orphanet:363700 ICD9:237.71 OMIM:162200 Orphanet:636 UMLS:C0027831" -MONDO:0012803 "This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms." "MESH:C562603 UMLS:C0268187 ICD10:E74.3 SCTID:84193000 Orphanet:103909 GARD:0010372 OMIM:612119 ICD9:271.8" +MONDO:0009431 "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." "SCTID:237891005 DOID:0050947 MESH:C562793 NCIT:C131450 OMIM:241530 ICD10CM:E83.3 Orphanet:157215 UMLS:C1853271" +MONDO:0018975 "Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." "MESH:D009456 NCIT:C3273 DOID:0111253 MESH:C538607 GARD:0007866 SCTID:92824003 ICD10CM:Q85.0 MedDRA:10047712 OMIM:162210 OMIM:613675 Orphanet:363700 ICD9:237.71 OMIM:162200 Orphanet:636 UMLS:C0027831" +MONDO:0012803 "This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms." "MESH:C562603 UMLS:C0268187 SCTID:84193000 Orphanet:103909 ICD10CM:E74.3 GARD:0010372 OMIM:612119 ICD9:271.8" GO:0050777 "Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus." MONDO:0700057 "A nervous system disorder that has pain as a major feature." MONDO:0002291 "A granular cell tumor that involves the zone of skin." "ICD9:215.9 NCIT:C5617 SCTID:254763007 UMLS:C0346060 DOID:2410" MONDO:0013382 "Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities." "OMIM:613710 Orphanet:217396 UMLS:C3150973" -MONDO:0017897 "OBSOLETE. Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency." "ICD10:D84.8 Orphanet:319535 UMLS:CN203953" -MONDO:0017541 "ICD10:Q69.2 Orphanet:295183" +MONDO:0017897 "OBSOLETE. Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency." "Orphanet:319535 UMLS:CN203953 ICD10CM:D84.8" +MONDO:0017541 "Orphanet:295183 ICD10CM:Q69.2" MONDO:0010449 "OMIM:300847" MONDO:0022349 "The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made." "SCTID:253143001 GARD:0009253 MESH:C535562 ICD9:742.4" http://identifiers.org/hgnc/4006 @@ -12750,7 +12746,7 @@ MONDO:0018728 "Orphanet:459526 UMLS:CN242077" UBERON:0003372 NCBITaxon:63417 "GC_ID:1" MONDO:0044619 "Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects)." "Orphanet:485358" -MONDO:0019612 "Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children)." "ICD10:D35.2 UMLS:C0346304 Orphanet:91348 SCTID:254960002" +MONDO:0019612 "Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children)." "ICD10CM:D35.2 UMLS:C0346304 Orphanet:91348 SCTID:254960002" http://identifiers.org/hgnc/14450 MONDO:0023670 "OMIM:619471" GO:0002449 "Any process involved in the carrying out of an immune response by a lymphocyte." @@ -12761,30 +12757,30 @@ MONDO:0020079 GO:1902669 "Any process that activates or increases the frequency, rate or extent of axon guidance." GO:0009064 "The chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline." http://identifiers.org/hgnc/13254 -MONDO:0010975 "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the RYR2 gene." "OMIM:600996 ICD10:I42.8 UMLS:C1832931 MESH:C563409 DOID:0110071 Orphanet:217656" +MONDO:0010975 "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the RYR2 gene." "OMIM:600996 UMLS:C1832931 MESH:C563409 DOID:0110071 Orphanet:217656" MONDO:0014141 "UMLS:C3809221 OMIM:615351 Orphanet:370968 Orphanet:370959" UBERON:0003371 -MONDO:0014009 "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1." "ICD10:Q80.2 OMIM:615022 UMLS:C3554348 Orphanet:79394 DOID:0060716" +MONDO:0014009 "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1." "OMIM:615022 UMLS:C3554348 Orphanet:79394 DOID:0060716" MONDO:0011645 MONDO:0000862 FOODON:00001046 "A seafood product is a vertebrate or invertibrate organism from an aquatic environment."@en MONDO:0009200 "Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive." "MESH:C536383 Orphanet:3172 GARD:0002216 OMIM:227210 UMLS:C1856896" -MONDO:0005010 "Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)" "UMLS:C0151744 SCTID:414545008 OMIM:614466 MESH:D003324 OMIM:607339 OMIM:608318 ICD10:I25.1 ICD9:414.9 ICD9:410-414.99 NCIT:C35505 OMIM:608901 EFO:0001645 OMIM:611139 ICD10:I25.10 SCTID:414024009 OMIM:610947 MESH:D017202 UMLS:C1956346 GARD:0011944 SCTID:443502000 OMIM:608320 ICD10:I25 OMIM:612030 ICD10:I25.9 DOID:3393 ICD10:K76.1 OMIM:614293 OMIM:300464 ICD10:I20-I25 OMIM:608316 NCIT:C26732 ICD9:414.0 OMIM:610938" -MONDO:0013800 "A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment." "Orphanet:300179 OMIM:614557 ICD10:Q79.6 UMLS:C3281160 SCTID:720859009" +MONDO:0005010 "Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)" "UMLS:C0151744 SCTID:414545008 OMIM:614466 MESH:D003324 OMIM:607339 OMIM:608318 ICD9:414.9 ICD9:410-414.99 NCIT:C35505 OMIM:608901 EFO:0001645 OMIM:611139 SCTID:414024009 OMIM:610947 MESH:D017202 UMLS:C1956346 GARD:0011944 OMIM:608320 SCTID:443502000 OMIM:612030 DOID:3393 OMIM:614293 OMIM:300464 OMIM:608316 NCIT:C26732 ICD9:414.0 OMIM:610938" +MONDO:0013800 "A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment." "Orphanet:300179 OMIM:614557 ICD10CM:Q79.6 UMLS:C3281160 SCTID:720859009" MONDO:0023671 "OMIM:619473" MONDO:0011844 "A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11." "DOID:0090035 MESH:C538002 UMLS:C1843786 Orphanet:210566 OMIM:607488" GO:0070887 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus." UBERON:0002173 MONDO:0002160 http://identifiers.org/hgnc/11957 -MONDO:0009742 "Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment." "OMIM:256710 ICD10:L81.4 UMLS:C1860157 SCTID:724091002 MESH:C536203 Orphanet:33445" +MONDO:0009742 "Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment." "ICD10CM:L81.4 OMIM:256710 UMLS:C1860157 SCTID:724091002 MESH:C536203 Orphanet:33445" HP:0004325 "Abnormally low body weight." "SNOMEDCT_US:248342006 SNOMEDCT_US:262285001 UMLS:C1844806 UMLS:C0041667 UMLS:C1262477 MSH:D015431 MSH:D013851 SNOMEDCT_US:89362005 SNOMEDCT_US:161832001" -MONDO:0003900 "A disease involving the connective tissue." "NCIT:C26729 SCTID:105969002 DOID:65 MESH:D003240 UMLS:C0009782" -MONDO:0014342 "Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa." "Orphanet:404466 OMIM:615774 UMLS:C4014291 ICD10:N97.8" +MONDO:0003900 "A disease involving the connective tissue." "ICD10CM:M30-M36 NCIT:C26729 SCTID:105969002 DOID:65 ICD10CM:M91-M94 MESH:D003240 ICD10CM:M00-M99 UMLS:C0009782 ICD10CM:M70-M79 ICD10CM:M95-M95" +MONDO:0014342 "Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa." "Orphanet:404466 OMIM:615774 UMLS:C4014291 ICD10CM:N97.8" MONDO:0012846 "MESH:C567371 DOID:0111300 Orphanet:36387 OMIM:612279 UMLS:C2677078" MONDO:0022471 "GARD:0000744" -MONDO:0014193 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene." "UMLS:C3809548 Orphanet:244 OMIM:615451 ICD10:Q34.8 DOID:0110609" -MONDO:0008780 "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene." "OMIM:205100 DOID:0060194 ICD10:G12.2 GARD:0009470 MESH:C565957 Orphanet:300605" +MONDO:0014193 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene." "UMLS:C3809548 Orphanet:244 OMIM:615451 DOID:0110609" +MONDO:0008780 "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene." "ICD10CM:G12.2 OMIM:205100 DOID:0060194 GARD:0009470 MESH:C565957 Orphanet:300605" MONDO:0000339 "A paralytic poliomyelitis in which the site of paralysis is the spinal cord." "DOID:0050513" NCBITaxon:63419 "GC_ID:1" MONDO:0024674 "A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent." "NCIT:C55815 SCTID:278065000 MESH:D010178 UMLS:C0030271" @@ -12796,11 +12792,11 @@ http://identifiers.org/hgnc/932 MONDO:0011649 "Orphanet:98722 OMIM:606215" HP:0001423 "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." "UMLS:C1847879" GO:0051797 "Any process that modulates the frequency, rate or extent of hair follicle development." -MONDO:0017528 "Orphanet:295154 ICD10:Q69.0 UMLS:CN203259" -MONDO:0009757 "Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein." "DOID:0070113 NCIT:C126864 ICD10:E75.2 SCTID:18927009 Orphanet:646 GARD:0007207 OMIM:257220 UMLS:C3179455" +MONDO:0017528 "ICD10CM:Q69.0 Orphanet:295154 UMLS:CN203259" +MONDO:0009757 "Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein." "DOID:0070113 NCIT:C126864 SCTID:18927009 Orphanet:646 GARD:0007207 OMIM:257220 UMLS:C3179455" CHEBI:33306 -MONDO:0007078 "Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO)." "ICD9:275.49 GARD:0005770 UMLS:C0033806 DOID:0080053 SCTID:58833000 UMLS:C3494506 OMIM:103580 Orphanet:79443 MESH:C537045 GARD:0007486 UMLS:C2931404 ICD10:E20.1 NCIT:C129721" -MONDO:0015530 "A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms." "ICD9:339.09 MESH:D051303 ICD10:G44.8 UMLS:C1565172 Orphanet:157843 SCTID:449814007 NCIT:C117074" +MONDO:0007078 "Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO)." "ICD9:275.49 GARD:0005770 UMLS:C0033806 DOID:0080053 SCTID:58833000 UMLS:C3494506 OMIM:103580 ICD10CM:E20.1 Orphanet:79443 MESH:C537045 GARD:0007486 UMLS:C2931404 NCIT:C129721" +MONDO:0015530 "A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms." "ICD9:339.09 MESH:D051303 UMLS:C1565172 Orphanet:157843 SCTID:449814007 NCIT:C117074 ICD10CM:G44.8" MONDO:0014788 "Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration." "Orphanet:466801 UMLS:C4225192 OMIM:616827 DOID:0110288" UBERON:0004571 NCBITaxon:7157 "GC_ID:1" @@ -12813,9 +12809,9 @@ UBERON:0003373 MONDO:0000860 MONDO:0009783 "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene." "GARD:0001191 UMLS:C4225153 Orphanet:254886 OMIM:258450 DOID:0111522" MONDO:0011648 "MESH:C536266 OMIM:606190 Orphanet:2495 GARD:0008491 UMLS:C1853554" -MONDO:0017529 "ICD10:Q70.4 UMLS:CN203260 Orphanet:295159" +MONDO:0017529 "UMLS:CN203260 Orphanet:295159 ICD10CM:Q70.4" MONDO:0021272 "OMIMPS:223360" -MONDO:0006937 "Inflammation of the dental pulp." "SCTID:32620007 MESH:D011671 EFO:1001139 ICD9:522.0 UMLS:C0034103 DOID:11121 MedDRA:10037463 NCIT:C52595 ICD10:K04.0" +MONDO:0006937 "Inflammation of the dental pulp." "SCTID:32620007 MESH:D011671 EFO:1001139 ICD9:522.0 UMLS:C0034103 DOID:11121 ICD10CM:K04.0 MedDRA:10037463 NCIT:C52595" GO:0048817 "Any process that stops, prevents, or reduces the frequency, rate or extent of hair follicle maturation." UBERON:0001810 GO:2001234 "Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway." @@ -12829,86 +12825,86 @@ MONDO:0019483 "Methotrexate-associated lymphoproliferative disorders are rare im GO:0006591 "The chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis." CHEBI:64049 "A food additive that is used to change or otherwise control the acidity or alkalinity of foods. They may be acids, bases, neutralising agents or buffering agents." MONDO:0018724 "Orphanet:459070 UMLS:CN242161" -MONDO:0001935 "Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" "SCTID:359554008 DOID:14286 EFO:1001378 MESH:D001177 ICD9:713.5 ICD10:M14.6 UMLS:C0003892" +MONDO:0001935 "Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" "SCTID:359554008 DOID:14286 EFO:1001378 MESH:D001177 ICD9:713.5 UMLS:C0003892" CL:0000007 "A cell found in the embryo before the formation of all the gem layers is complete." -MONDO:0016689 "A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)" "ICDO:9411/3 ICD10:C71.9 UMLS:C0334581 MESH:D001254 Orphanet:251604 NCIT:C4321 DOID:7005" +MONDO:0016689 "A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)" "ICDO:9411/3 ICD10CM:C71.9 UMLS:C0334581 MESH:D001254 Orphanet:251604 NCIT:C4321 DOID:7005" CL:0002364 "An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells." "BTO:0004562" MONDO:0013835 "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene." "DOID:0111234 UMLS:C3553330 Orphanet:899 OMIM:614643" -MONDO:0013007 "A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." "Orphanet:317428 MESH:C557826 ICD10:D81.8 UMLS:C2748568 GARD:0010524 OMIM:612782 Orphanet:169090" +MONDO:0013007 "A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." "Orphanet:317428 MESH:C557826 UMLS:C2748568 GARD:0010524 OMIM:612782 Orphanet:169090 ICD10CM:D81.8" MONDO:0011099 "Human HOXA1 syndromes is characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive." "Orphanet:69737 UMLS:C1832215 OMIM:601536 SCTID:720518006 Orphanet:69739 DOID:0050682 GARD:0008333" -MONDO:0017526 "Orphanet:295150 ICD10:Q69.1 UMLS:CN203257" +MONDO:0017526 "Orphanet:295150 ICD10CM:Q69.1 UMLS:CN203257" http://identifiers.org/hgnc/930 -MONDO:0016287 "A skin adenoid basal cell carcinoma that involves the uterine cervix." "UMLS:CN201077 Orphanet:213828 ICD10:C53.1 ICD10:C53.8 ICD10:C53.0" +MONDO:0016287 "A skin adenoid basal cell carcinoma that involves the uterine cervix." "UMLS:CN201077 Orphanet:213828 ICD10CM:C53.1 ICD10CM:C53.8 ICD10CM:C53.0" GO:0035051 "The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cell that will form part of the cardiac organ of an individual." -MONDO:0020482 "Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM)." "SCTID:715789009 Orphanet:99735 OMIM:608390 UMLS:CN207354 ICD10:G71.1" +MONDO:0020482 "Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM)." "SCTID:715789009 Orphanet:99735 OMIM:608390 ICD10CM:G71.1 UMLS:CN207354" MONDO:0013884 "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene." "DOID:0111205 OMIM:614751 Orphanet:139536 UMLS:C3553656" MONDO:0017232 "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position." "Orphanet:280384" MONDO:0016328 "Orphanet:217591 UMLS:CN226902" MONDO:0020075 "Orphanet:98267" -MONDO:0018725 "Orphanet:459074 ICD10:Q04.0 UMLS:CN242137" -MONDO:0008503 "Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking." "SCTID:716335003 OMIM:185480 MESH:C536747 Orphanet:3465 ICD10:G80.8 UMLS:C0796204 GARD:0005598" +MONDO:0018725 "Orphanet:459074 UMLS:CN242137 ICD10CM:Q04.0" +MONDO:0008503 "Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking." "SCTID:716335003 OMIM:185480 MESH:C536747 ICD10CM:G80.8 Orphanet:3465 UMLS:C0796204 GARD:0005598" MONDO:0006377 "Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." "EFO:1000483 UMLS:C1709570 NCIT:C45665" MONDO:0013923 "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene." "UMLS:C3553886 DOID:0070292 OMIM:614852" MONDO:0007858 "Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene." "OMIM:148600 Orphanet:79501 DOID:0080214" MONDO:0020866 "Infection of the nasopharynx by Corynebacterium diphtheriae." "SCTID:75589004 ICD9:032.1 UMLS:C0012558 NCIT:C34547" GO:0001666 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level." -MONDO:0008222 "Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly." "ICD10:G72.3 ICD9:759.89 MESH:D050030 DOID:0050434 NCIT:C84559 GARD:0009453 OMIM:170390 UMLS:C1563715 SCTID:422348008 Orphanet:37553" -MONDO:0017527 "ICD10:Q69.0 Orphanet:295152 UMLS:CN203258" +MONDO:0008222 "Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly." "ICD10CM:G72.3 ICD9:759.89 MESH:D050030 DOID:0050434 NCIT:C84559 GARD:0009453 OMIM:170390 UMLS:C1563715 SCTID:422348008 Orphanet:37553" +MONDO:0017527 "ICD10CM:Q69.0 Orphanet:295152 UMLS:CN203258" MONDO:0022454 "Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy." "GARD:0005814" MONDO:0021012 "OMIM:608207" GO:0017171 "Catalysis of the hydrolysis of a substrate by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine)." MONDO:0021278 GO:0140056 "The process by which an organelle membrane interacts with another membrane via molecular tethers that physically bridge the two membranes and attach them to each other." -MONDO:0008237 "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families." "Orphanet:2878 OMIM:171480 UMLS:C1868390 ICD10:Q87.2 GARD:0004323 MESH:C537498" -MONDO:0012815 "Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." "ICD10:H35.0 SCTID:711482008 UMLS:CN282828 Orphanet:313838 OMIM:617341 ICD9:348.89 OMIMPS:612199 OMIM:612199 MESH:C567401" -MONDO:0012289 "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." "DOID:0080096 MESH:C537932 Orphanet:171445 OMIM:609524 ICD10:G71.8" +MONDO:0008237 "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families." "Orphanet:2878 OMIM:171480 UMLS:C1868390 ICD10CM:Q87.2 GARD:0004323 MESH:C537498" +MONDO:0012815 "Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." "SCTID:711482008 UMLS:CN282828 Orphanet:313838 OMIM:617341 ICD9:348.89 OMIMPS:612199 OMIM:612199 ICD10CM:H35.0 MESH:C567401" +MONDO:0012289 "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." "DOID:0080096 ICD10CM:G71.8 MESH:C537932 Orphanet:171445 OMIM:609524" NCBITaxon:153136 "GC_ID:1" CHEBI:36080 "A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome." MONDO:0021249 "A neoplasm (disease) that involves the lip." "NCIT:C3191 SCTID:126770008" MONDO:0016327 "Orphanet:217587 UMLS:CN201160" -MONDO:0019113 "Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children." "Orphanet:71518 SCTID:719521002 UMLS:CN205631 ICD10:G24.3" +MONDO:0019113 "Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children." "ICD10CM:G24.3 Orphanet:71518 SCTID:719521002 UMLS:CN205631" GO:0051146 "The process in which a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle." http://identifiers.org/hgnc/7609 MONDO:0018722 "Orphanet:458841" GO:0033001 "A protein complex composed of an Fc-gamma RIII alpha chain and an Fc-epsilon RI gamma chain dimer with or without an Fc-epsilon RI beta chain and additional signaling components. The complex functions primarily as an activating receptor for IgG." http://identifiers.org/hgnc/8806 -MONDO:0010790 "A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy." "MedDRA:10069825 Orphanet:551 UMLS:C0162672 ICD9:277.87 GARD:0007144 ICD10:E88.42 DOID:310 OMIM:545000 ICD10:G71.3 SCTID:68448003 MESH:D017243 NCIT:C84889" +MONDO:0010790 "A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy." "MedDRA:10069825 Orphanet:551 ICD10CM:E88.42 UMLS:C0162672 ICD9:277.87 GARD:0007144 ICD10CM:G71.3 DOID:310 OMIM:545000 SCTID:68448003 MESH:D017243 NCIT:C84889" GO:0051970 "Any process that stops, prevents, or reduces the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation." MONDO:0021327 "A carcinoma that involves the urethra." "NCIT:C9106 SCTID:448954003" -MONDO:0017524 "Orphanet:295146 ICD10:Q69.1 UMLS:CN203255" -MONDO:0019923 "UMLS:CN206842 ICD10:Q87.3 Orphanet:96193" +MONDO:0017524 "ICD10CM:Q69.1 Orphanet:295146 UMLS:CN203255" +MONDO:0019923 "UMLS:CN206842 ICD10CM:Q87.3 Orphanet:96193" MONDO:0021175 "Infection of the vulva and the vagina caused by herpes simplex virus." "UMLS:C0019386 SCTID:27420004 NCIT:C34697 ICD9:054.11" MONDO:0021011 "Orphanet:1429 OMIM:118700" MONDO:0016347 "OBSOLETE. A rare form of cardiac rhythm disease." "Orphanet:218436 UMLS:CN201185" GO:0045992 "Any process that stops, prevents, or reduces the frequency, rate or extent of embryonic development." CL:0002584 "An epithelial cell of the kidney cortex." "KUPO:0001016" MONDO:0016252 "OBSOLETE. Rare uterine cancer." "Orphanet:213564" -MONDO:0013119 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene." "MESH:C567543 DOID:0110525 OMIM:613079 ICD10:H90.3 UMLS:C2746083" +MONDO:0013119 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene." "MESH:C567543 DOID:0110525 OMIM:613079 UMLS:C2746083" MONDO:0016326 "Orphanet:217581 UMLS:CN201159" MONDO:0018723 "Orphanet:458844 UMLS:CN242093" MONDO:0005907 "Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)" "ICD9:300.89 EFO:0007430 DOID:4491 UMLS:C0282550 SCTID:95877004 MESH:D018923" -MONDO:0013970 "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids." "UMLS:C3554078 OMIM:614923 ICD10:E71.1 DOID:0090126 Orphanet:308410" -MONDO:0003249 "Abnormal malignant growth of the cells that comprise the pineal parenchyma." "ICD9:194.4 NCIT:C6965 DOID:5032 NCIT:C3328 ICD10:C75.3 UMLS:C0031941 SCTID:363483004 NCIT:C3573" -MONDO:0001379 "A malignant neoplasm involving the ureteral orifice." "DOID:11818 UMLS:C0153614 ICD9:188.6 NCIT:C12337 ICD10:C67.6 SCTID:188245008" +MONDO:0013970 "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids." "UMLS:C3554078 OMIM:614923 DOID:0090126 ICD10CM:E71.1 Orphanet:308410" +MONDO:0003249 "Abnormal malignant growth of the cells that comprise the pineal parenchyma." "ICD9:194.4 NCIT:C6965 DOID:5032 NCIT:C3328 UMLS:C0031941 SCTID:363483004 NCIT:C3573" +MONDO:0001379 "A malignant neoplasm involving the ureteral orifice." "DOID:11818 UMLS:C0153614 ICD9:188.6 NCIT:C12337 SCTID:188245008" MONDO:0027068 "Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene." "OMIM:500014" GO:0043255 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of carbohydrates." PATO:0070006 "A cell morphology that inheres in neurons which have two principal fibres (dendrites or axon) that emerge from the soma and begin to branch some distance from it, have few spines, and branch in narrow fields. This is in contrast to bitufted morphology where branching occurs close to the soma." MONDO:0019089 http://identifiers.org/hgnc/8808 -MONDO:0017525 "UMLS:CN203256 Orphanet:295148 ICD10:Q69.1" +MONDO:0017525 "UMLS:CN203256 Orphanet:295148 ICD10CM:Q69.1" GO:0006282 "Any process that modulates the frequency, rate or extent of DNA repair." -MONDO:0009623 "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." "UMLS:C0398791 MedDRA:10067857 SCTID:234638009 Orphanet:647 ICD10:Q87.8 UMLS:CN860323 GARD:0003904 NCIT:C4692 OMIM:251260 MESH:D049932 DOID:7400" +MONDO:0009623 "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." "UMLS:C0398791 MedDRA:10067857 SCTID:234638009 Orphanet:647 UMLS:CN860323 GARD:0003904 ICD10CM:Q87.8 NCIT:C4692 OMIM:251260 MESH:D049932 DOID:7400" ENVO:01000888 "An area of a planet's surface which is primarily covered by gramanoid or herbaceous vegetation and which is not subject to intensive management by humans. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction." MONDO:0006957 "Dental caries involving the tooth root, cementum, or cervical area of the tooth." "SCTID:30512007 ICD9:521.08 EFO:1001163 MESH:D017213 UMLS:C0162644 DOID:14089" -MONDO:0016989 "Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities." "MedDRA:10017406 Orphanet:263479 GARD:0006791 ICD10:H20.8" +MONDO:0016989 "Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities." "MedDRA:10017406 ICD10CM:H20.8 Orphanet:263479 GARD:0006791" UBERON:0009204 MONDO:0006657 "An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism." "MESH:D043204 NCIT:C123231 SCTID:237770005 ICD9:255.3 EFO:1000817 DOID:4367 UMLS:C0342488" -MONDO:0012914 "1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." "GARD:0010813 DOID:0060411 SCTID:699305004 ICD10:Q93.5 Orphanet:250989 OMIM:612474 ICD9:758.33" +MONDO:0012914 "1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome." "GARD:0010813 DOID:0060411 SCTID:699305004 OMIM:612474 Orphanet:250989 ICD9:758.33 ICD10CM:Q93.5" GO:0072201 "Any process that decreases the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets." MONDO:0003693 "A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells." "UMLS:C1377853 DOID:5895 NCIT:C8988" MONDO:0005760 -MONDO:0020070 "ICD10:G40.4 UMLS:CN206974 Orphanet:98257" -MONDO:0009946 "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported." "MESH:C564859 UMLS:C1849507 OMIM:266120 ICD10:D55.3 Orphanet:35120" +MONDO:0020070 "UMLS:CN206974 Orphanet:98257 ICD10CM:G40.4" +MONDO:0009946 "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported." "MESH:C564859 UMLS:C1849507 OMIM:266120 ICD10CM:D55.3 Orphanet:35120" CL:0000573 "One of the two photoreceptor cell types in the vertebrate retina. In cones the photopigment is in invaginations of the cell membrane of the outer segment. Cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision." "FMA:67748 CALOHA:TS-0866 BTO:0001036" MONDO:0010440 "GARD:0003775 OMIM:300830" HP:0000648 "Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy." "UMLS:C0029124 SNOMEDCT_US:76976005 MSH:D009896" @@ -12917,20 +12913,20 @@ MONDO:0010587 "X-linked form of epidermodysplasia verruciformis." "Orphanet:302 MONDO:0014557 "Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene." "EFO:0009016 OMIM:616267 Orphanet:459033 GARD:0013111 UMLS:C4225397" UBERON:0009205 http://identifiers.org/hgnc/2701 -MONDO:0001804 "ICD10:H15.01 DOID:13794 SCTID:63454000 UMLS:C0155353 ICD9:379.03" +MONDO:0001804 "DOID:13794 SCTID:63454000 UMLS:C0155353 ICD9:379.03" GO:0042483 "Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of a tooth or teeth." MONDO:0019721 "A renal or urinary tract malformation that is part of a larger syndrome." "UMLS:CN227683 Orphanet:93547" GO:0032101 "Any process that modulates the frequency, rate or extent of a response to an external stimulus." GO:0051099 "Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule." -MONDO:0011916 "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy." "OMIM:607706 Orphanet:99944 OMIM:607831 DOID:0110167 Orphanet:101097 UMLS:C1842983 ICD10:G60.0 SCTID:725047007 UMLS:C1842984" +MONDO:0011916 "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy." "OMIM:607706 Orphanet:99944 OMIM:607831 DOID:0110167 Orphanet:101097 UMLS:C1842983 ICD10CM:G60.0 SCTID:725047007 UMLS:C1842984" GO:0019855 "Binds to and stops, prevents, or reduces the activity of a calcium channel." MONDO:0009580 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene." "UMLS:C1855304 OMIM:249500 MESH:C565406" -MONDO:0010224 "Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed." "SCTID:763797003 UMLS:C0796124 OMIM:300004 ICD10:Q87.8 MESH:C563110 GARD:0004528 Orphanet:2508" +MONDO:0010224 "Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed." "SCTID:763797003 UMLS:C0796124 ICD10CM:Q87.8 OMIM:300004 MESH:C563110 GARD:0004528 Orphanet:2508" MONDO:0005229 "An infectious disease caused by bacteria causing sepsis." "SCTID:5758002 NCIT:C102993 MESH:D016470 EFO:0003033 ICD9:790.7 Wikipedia:Bacteremia DOID:0040085 UMLS:C0004610" HP:0000036 "Abnormality of the male external sex organ." "UMLS:C4025896" MONDO:0024275 "Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites." "NCIT:C34558 MESH:D004404 GARD:0000652" HP:0002812 "Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees." "SNOMEDCT_US:74820003 UMLS:C0239138 MSH:D060905" -MONDO:0013067 "Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene." "ICD10:Q12.0 DOID:0110230 UMLS:C2751822 Orphanet:91492 OMIM:612968 Orphanet:98993 MESH:C567835" +MONDO:0013067 "Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene." "DOID:0110230 UMLS:C2751822 Orphanet:91492 OMIM:612968 Orphanet:98993 MESH:C567835" http://identifiers.org/hgnc/4266 NCBITaxon:121759 "GC_ID:1" MONDO:0034024 "A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype." "Orphanet:536545" @@ -12939,42 +12935,42 @@ HP:0001762 "Talipes equinovarus (also called clubfoot) typically has four main c MONDO:0007903 "Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the TP53 gene." "OMIM:151623 UMLS:C1836481 DOID:0111503 OMIM:609266 MESH:C563754 Orphanet:524 UMLS:C1835398" MONDO:0000604 MONDO:0010442 "Orphanet:393 UMLS:C3151782 DOID:0111762 OMIM:300833" -MONDO:0001800 "SCTID:82146006 ICD10:H15.81 UMLS:C0155361 DOID:13788 ICD9:379.13" +MONDO:0001800 "SCTID:82146006 UMLS:C0155361 DOID:13788 ICD9:379.13" MONDO:0015792 "A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone." "NCIT:C113171 UMLS:C3827793 Orphanet:178045 SCTID:119181000119104" CHEBI:36962 "An organochalcogen compound is a compound containing at least one carbon-chalcogen bond." MONDO:0014818 "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene." "OMIM:616893 DOID:0080381 UMLS:C4225165" GO:0022406 "The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere." http://identifiers.org/hgnc/2705 CHEBI:36908 -MONDO:0001802 "DOID:13790 SCTID:297009 UMLS:C0155460 ICD10:H73.009 ICD10:H73.0 ICD9:384.00 ICD10:H73.00" -MONDO:0010522 "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region." "DOID:0110059 OMIM:301201 UMLS:C1845051 Orphanet:100031 ICD10:K00.5 GARD:0009944" -MONDO:0020073 "UMLS:CN206977 Orphanet:98260 ICD10:G40.4" +MONDO:0001802 "DOID:13790 SCTID:297009 UMLS:C0155460 ICD9:384.00" +MONDO:0010522 "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region." "DOID:0110059 OMIM:301201 UMLS:C1845051 Orphanet:100031 GARD:0009944" +MONDO:0020073 "UMLS:CN206977 Orphanet:98260 ICD10CM:G40.4" UBERON:2000364 MONDO:0020215 "A corneal dystrophy (disease) that is part of a larger syndrome." "UMLS:CN227823 Orphanet:98628" HP:0000789 "MSH:D007246 UMLS:C0021359 SNOMEDCT_US:8619003 SNOMEDCT_US:15296000" MONDO:0000869 GO:0006928 "The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore." -MONDO:0001801 "UMLS:C0155360 DOID:13789 SCTID:87819007 ICD10:H15.83 ICD9:379.12" -MONDO:0011374 "An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia." "NCIT:C128114 DOID:0090105 UMLS:C1863512 OMIM:603813 ICD10:E78.0 MESH:C566331 Orphanet:391665" +MONDO:0001801 "UMLS:C0155360 DOID:13789 SCTID:87819007 ICD9:379.12" +MONDO:0011374 "An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia." "NCIT:C128114 DOID:0090105 UMLS:C1863512 OMIM:603813 MESH:C566331 Orphanet:391665" MONDO:0010441 "OMIM:300831 Orphanet:251383 UMLS:C3151781" MONDO:0006593 "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males." "MESH:C535549 EFO:1000748 NCIT:C27486 UMLS:C0406608 GARD:0007350 DOID:3927" -MONDO:0010643 "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." "DOID:12603 MESH:C564112 HP:0002488 ICD10:C95.00 SCTID:91855006 NCIT:C9300 ICD9:208.00 OMIM:308960 ICDO:9801/3 ICD10:C95.0 ICD9:208.0 EFO:1000068" +MONDO:0010643 "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." "DOID:12603 MESH:C564112 HP:0002488 SCTID:91855006 NCIT:C9300 ICD9:208.00 OMIM:308960 ICDO:9801/3 EFO:1000068 ICD9:208.0" UBERON:0016554 ECTO:0000371 "An exposure to oxygen molecular entity." http://identifiers.org/hgnc/4268 -MONDO:0009569 "Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive." "Orphanet:2135 UMLS:CN201032 GARD:0003409 MESH:C536033 OMIM:248910 ICD10:Q82.2 SCTID:722453009" +MONDO:0009569 "Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive." "Orphanet:2135 UMLS:CN201032 GARD:0003409 MESH:C536033 OMIM:248910 ICD10CM:Q82.2 SCTID:722453009" http://identifiers.org/hgnc/1509 MONDO:0001673 "The condition of having at least three loose or liquid bowel movements each day." "SCTID:128333008 MESH:D003967 NCIT:C2987 HP:0002014 DOID:13250 ICD9:009.2" -MONDO:0018968 "Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." "NCIT:C124549 MedDRA:10022034 ICD10:Q00.2 Orphanet:63259 SCTID:2438005 GARD:0010506 UMLS:C0152234 ICD9:740.2" +MONDO:0018968 "Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." "NCIT:C124549 MedDRA:10022034 Orphanet:63259 SCTID:2438005 GARD:0010506 UMLS:C0152234 ICD9:740.2 ICD10CM:Q00.2" MONDO:0000868 MONDO:0004194 "A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels." "DOID:7347 NCIT:C40446 UMLS:C1518743" http://identifiers.org/hgnc/2707 -MONDO:0019142 "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." "DOID:13268 Orphanet:738 MESH:D011164 ICD10:E80.0 SCTID:371628009 SCTID:29094004 ICD10:E80.1 UMLS:C0032708 ICD9:277.1 GARD:0010353 MedDRA:10061356 ICD10:E80.2 ICD10:E80.20 MedDRA:10036181 NCIT:C97096" +MONDO:0019142 "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both." "DOID:13268 Orphanet:738 MESH:D011164 ICD10CM:E80.1 SCTID:371628009 SCTID:29094004 UMLS:C0032708 ICD9:277.1 ICD10CM:E80.2 ICD10CM:E80.0 GARD:0010353 MedDRA:10061356 MedDRA:10036181 NCIT:C97096" UBERON:0017751 -MONDO:0010444 "OMIM:300835 Orphanet:363727 ICD10:D64.4" +MONDO:0010444 "OMIM:300835 Orphanet:363727 ICD10CM:D64.4" MONDO:0003121 "A meningioma that affects the middle cranial fossa." "DOID:4749 NCIT:C5586 UMLS:C1334757" MONDO:0033259 "DOID:0080268 OMIM:617606 Orphanet:90635" -MONDO:0006554 "Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown." "MESH:D016460 Wikipedia:Granuloma_annulare DOID:3777 EFO:1000704 SCTID:65508009 NCIT:C3470 ICD9:709.8 ICD10:L92.0 GARD:0006546 UMLS:C0085074" +MONDO:0006554 "Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown." "MESH:D016460 ICD10CM:L92.0 Wikipedia:Granuloma_annulare DOID:3777 EFO:1000704 SCTID:65508009 NCIT:C3470 ICD9:709.8 GARD:0006546 UMLS:C0085074" GO:0080154 "Any process that modulates the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy)." GO:1905555 "Any process that activates or increases the frequency, rate or extent of blood vessel branching." MONDO:0043555 "Diarrhea occurring in infants from newborn to 24-months old." "MESH:D003968 UMLS:C0473132 SCTID:39963006" @@ -12982,26 +12978,26 @@ MONDO:0006520 "A rare disorder which affects the volar surfaces of fingers. Clin HP:0011730 "An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord." "UMLS:C4023215" MONDO:0005879 "Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids." "GARD:0007238 ICD9:130.7 SCTID:416481006 EFO:0007399 UMLS:C0040561 MESH:D014126" MONDO:0011641 "OMIM:606174" -MONDO:0000866 "OMIM:268200 OMIM:160010 ICD10:R82.1 OMIM:550500 MESH:D009212 DOID:0080108 NCIT:C114705 HP:0002913" +MONDO:0000866 "OMIM:268200 OMIM:160010 ICD10CM:R82.1 OMIM:550500 MESH:D009212 DOID:0080108 NCIT:C114705 HP:0002913" HP:0012575 "A structural anomaly of the nephron." "UMLS:C4022838" NCBITaxon:12967 "GC_ID:1" -MONDO:0014594 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene." "DOID:0110588 UMLS:C4084712 OMIM:616340 ICD10:H90.3" +MONDO:0014594 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene." "DOID:0110588 UMLS:C4084712 OMIM:616340" MONDO:0000867 MONDO:0006352 "A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases." "NCIT:C6019 EFO:1000454 UMLS:C1335337" MONDO:0015897 "OBSOLETE. Rare hyperparathyroidism." "Orphanet:181408" HP:0011146 "A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event." -MONDO:0002164 "ICD10:H30.00 ICD9:363.00 UMLS:C0154870 ICD10:H30.0 DOID:1979 ICD9:363.0 SCTID:15847003" +MONDO:0002164 "ICD9:363.00 UMLS:C0154870 DOID:1979 ICD9:363.0 SCTID:15847003" CHEBI:36902 MONDO:0004483 "A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli." "UMLS:C1336750 DOID:8162 NCIT:C6042 ONCOTREE:OAT" MONDO:0010443 "OMIM:300834 UMLS:C3151784" -MONDO:0007041 "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." "GARD:0005833 Orphanet:87 MESH:D000168 MedDRA:10002943 ICD10:Q87.0 SCTID:205258009 OMIM:101200 NCIT:C99099 UMLS:C0001193" +MONDO:0007041 "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly." "GARD:0005833 Orphanet:87 MESH:D000168 ICD10CM:Q87.0 MedDRA:10002943 SCTID:205258009 OMIM:101200 NCIT:C99099 UMLS:C0001193" MONDO:0042233 "Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes." "NCIT:C116812 SCTID:70572005 GARD:0001076" MONDO:0013203 "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene." "UMLS:C2750451 OMIM:613267 Orphanet:98974" GO:0002711 "Any process that activates or increases the frequency, rate, or extent of T cell mediated immunity." UBERON:0017750 -MONDO:0014675 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene." "DOID:0110465 UMLS:C4225298 OMIM:616515 ICD10:H90.3" -MONDO:0012716 "Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." "ICD10:Q77.7 MESH:C567128 SCTID:718765003 GARD:0010629 OMIM:611717 UMLS:C2673649 Orphanet:163654" -MONDO:0016109 "Autosomal recessive form of distal myopathy." "ICD10:G71.0 UMLS:CN229019 Orphanet:206653" +MONDO:0014675 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene." "DOID:0110465 UMLS:C4225298 OMIM:616515" +MONDO:0012716 "Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." "ICD10CM:Q77.7 MESH:C567128 SCTID:718765003 GARD:0010629 OMIM:611717 UMLS:C2673649 Orphanet:163654" +MONDO:0016109 "Autosomal recessive form of distal myopathy." "ICD10CM:G71.0 UMLS:CN229019 Orphanet:206653" NCBITaxon:85025 "PMID:19244447 PMID:30186281 GC_ID:11" GO:0055117 "Any process that modulates the frequency, rate or extent of cardiac muscle contraction." MONDO:0021635 "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage." @@ -13009,8 +13005,8 @@ CHEBI:33937 "Any nutrient required in large quantities by organisms throughout t MONDO:0000893 "A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells." "DOID:0080184 NCIT:C7270 UMLS:C1266036 ICDO:8254/3" MONDO:0000865 UBERON:0009206 -MONDO:0020505 "Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies." "ICD10:E75.2 UMLS:CN207401 UMLS:C4275006 SCTID:715794009 Orphanet:99852" -MONDO:0007950 "A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival." "SCTID:78745000 DOID:350 UMLS:C0024899 MESH:D008415 ICD10:C96.2 Orphanet:79457 GARD:0006987 UMLS:C0334664 OMIM:154800 ICD10:D47.0 MedDRA:10026891 ICD10:Q82.2 NCIT:C84269 Orphanet:98292 UMLS:C0042111 ONCOTREE:MCD" +MONDO:0020505 "Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies." "ICD10CM:E75.2 UMLS:CN207401 UMLS:C4275006 SCTID:715794009 Orphanet:99852" +MONDO:0007950 "A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival." "UMLS:C0024899 SCTID:78745000 NCIT:C84269 MESH:D008415 ICD10CM:D47.0 ONCOTREE:MCD ICD10CM:Q82.2 DOID:350 Orphanet:79457 UMLS:C0042111 Orphanet:98292 MedDRA:10026891 UMLS:C0334664 GARD:0006987 OMIM:154800 ICD10CM:C96.2" HP:0000006 "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." "UMLS:C0443147 SNOMEDCT_US:263681008" UBERON:0016552 MONDO:0003574 "A malignant neoplasm involving the external ear." "SCTID:277156006 UMLS:C0349576 DOID:5665 NCIT:C4653" @@ -13018,10 +13014,10 @@ MONDO:0004560 "SCTID:254694002 NCIT:C4469 ICD9:239.2 DOID:8426 UMLS:C0346006" MONDO:0002161 MONDO:0002330 "A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol." "EFO:1001260 DOID:252 ICD9:291.8 SCTID:42344001 MESH:D011604 ICD9:291.9 ICD9:291.89" http://identifiers.org/hgnc/11950 -MONDO:0006676 "Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth." "DOID:13725 DOID:0070313 EFO:1000837 ICD10:E51.1 MESH:D001602 ICD9:265.0 GARD:0009948 UMLS:C0005122 SCTID:36656008 MedDRA:10004482 ICD10:E51.11 NCIT:C34418" +MONDO:0006676 "Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth." "DOID:13725 DOID:0070313 EFO:1000837 MESH:D001602 ICD9:265.0 GARD:0009948 UMLS:C0005122 SCTID:36656008 MedDRA:10004482 NCIT:C34418" CL:2000041 "Any dermis lymphatic vessel endothelial cell that is part of a microvascular endothelium." MONDO:0000864 -MONDO:0011724 "Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation." "OMIM:606777 GARD:0009265 ICD10:G93.4 UMLS:CN030711 MESH:C536830 Orphanet:71277 EFO:0009139 UMLS:C1847501" +MONDO:0011724 "Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation." "OMIM:606777 GARD:0009265 UMLS:CN030711 ICD10CM:G93.4 MESH:C536830 Orphanet:71277 EFO:0009139 UMLS:C1847501" UBERON:0016553 MONDO:0011643 MONDO:0002167 "An aggressive malignant melanocytic neoplasm that arises from the rectum." "NCIT:C4640 UMLS:C0349539 DOID:1992 SCTID:276822007" @@ -13051,30 +13047,30 @@ UBERON:4200172 http://identifiers.org/hgnc/1774 MONDO:0013217 "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene." "OMIM:613309 MESH:C567649 UMLS:C2750080" MONDO:0003635 "A very rare breast adenocarcinoma with sebaceous differentiation." "UMLS:C1519207 DOID:5760 NCIT:C40369" -MONDO:0015397 "MESH:D006053 OMIM:164210 Orphanet:374 DOID:2907 SCTID:367462009 ICD10:Q87.0 ICD9:759.89 SCTID:109393007 GARD:0012074 NCIT:C84740 UMLS:C0265240 GARD:0006540 Orphanet:141132" +MONDO:0015397 "MESH:D006053 OMIM:164210 Orphanet:374 DOID:2907 SCTID:367462009 ICD9:759.89 SCTID:109393007 GARD:0012074 NCIT:C84740 UMLS:C0265240 GARD:0006540 ICD10CM:Q87.0 Orphanet:141132" http://identifiers.org/hgnc/23068 MONDO:0014458 "Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene." "OMIM:616026 UMLS:C4014962 Orphanet:93111" MONDO:0007052 "Orphanet:963 Orphanet:314777 Orphanet:96256 OMIM:102200 GARD:0010959 Orphanet:99725" -MONDO:0007527 "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility." "ICD10:Q79.6 OMIM:617174 SCTID:50869007 GARD:0012474 Orphanet:75392 MESH:C562626" +MONDO:0007527 "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility." "OMIM:617174 ICD10CM:Q79.6 SCTID:50869007 OMIM:130080 GARD:0012474 Orphanet:75392 MESH:C562626" CL:0002480 "A goblet cell located in the nasal epithelium." "MP:0002262" MONDO:0021133 "An acquired coagulation disorder due to reduced levels and activity of factor XIII." "NCIT:C131629 UMLS:C0238120" MONDO:0100274 "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene." MONDO:0005640 "A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)" "DOID:4267 UMLS:C0001889 SCTID:53333005 EFO:0007138 MESH:D000405" -MONDO:0010505 "Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males." "UMLS:C1866985 SCTID:722002002 MESH:C536638 Orphanet:3041 GARD:0000257 ICD10:Q87.8 OMIM:300977" +MONDO:0010505 "Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males." "UMLS:C1866985 SCTID:722002002 MESH:C536638 Orphanet:3041 GARD:0000257 OMIM:300977 ICD10CM:Q87.8" CHEBI:59517 "Any substance that inhibits the synthesis of DNA." -MONDO:0011214 "Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." "Orphanet:172 MESH:C535935 ICD10:K76.8 DOID:0070223 Orphanet:79305 GARD:0001289 OMIM:602347 UMLS:C1865643" +MONDO:0011214 "Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." "Orphanet:172 ICD10CM:K76.8 MESH:C535935 DOID:0070223 Orphanet:79305 GARD:0001289 OMIM:602347 UMLS:C1865643" MONDO:0006855 "Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" "MESH:D008641 DOID:13252 MedDRA:10074583 UMLS:C0025472 EFO:1001043" MONDO:0003975 "A carcinoma involving a male urethral gland." "UMLS:C1516285 NCIT:C39865 DOID:6721" GO:0016202 "Any process that modulates the frequency, rate or extent of striated muscle development." HP:0000651 "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." "MSH:D004172 UMLS:C0012569 SNOMEDCT_US:24982008" http://identifiers.org/hgnc/1773 PO:0025395 "A plant organ (PO:0009008) that is part of a flower (PO:0009046)." "PO_GIT:423" -MONDO:0017140 "L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis." "OMIM:307000 UMLS:CN118845 ICD10:Q04.8 Orphanet:275543 OMIM:303350 OMIM:304100 GARD:0012524" +MONDO:0017140 "L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis." "OMIM:307000 ICD10CM:Q04.8 UMLS:CN118845 Orphanet:275543 OMIM:303350 OMIM:304100 GARD:0012524" GO:1904318 "Any process that modulates the frequency, rate or extent of smooth muscle contraction involved in micturition." MONDO:0002899 "A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells." "NCIT:C42048 DOID:4160 UMLS:C1511934" -MONDO:0018149 "A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." "OMIM:230500 GARD:0010891 DOID:3322 UMLS:C0085131 OMIM:230600 MESH:D016537 Orphanet:354 SCTID:124465002 ICD9:277.6 OMIM:230650 ICD10:E75.1 NCIT:C84739 ICD10:E75.19" +MONDO:0018149 "A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." "OMIM:230500 GARD:0010891 DOID:3322 UMLS:C0085131 OMIM:230600 MESH:D016537 Orphanet:354 ICD10CM:E75.1 SCTID:124465002 ICD9:277.6 OMIM:230650 NCIT:C84739" MONDO:0007053 "UMLS:C3888109 MESH:C538443 GARD:0009709 OMIM:102300" -MONDO:0017329 "Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible." "Orphanet:289365 OMIM:614319 OMIM:610878 SCTID:763716008 OMIM:614674 OMIM:614318 UMLS:CN202969 OMIM:193000 OMIM:615963 OMIM:614317 ICD10:N13.7 OMIMPS:193000 OMIM:615390 OMIM:314550 OMIM:613674" +MONDO:0017329 "Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible." "Orphanet:289365 OMIM:614319 OMIM:610878 SCTID:763716008 OMIM:614674 OMIM:614318 UMLS:CN202969 OMIM:193000 OMIM:615963 OMIM:614317 ICD10CM:N13.7 OMIMPS:193000 OMIM:615390 OMIM:314550 OMIM:613674" MONDO:0006954 MONDO:0002664 "An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells." "UMLS:C0861859 DOID:3494 NCIT:C5776" http://identifiers.org/hgnc/5468 @@ -13082,19 +13078,19 @@ http://identifiers.org/hgnc/7865 MONDO:0017793 "UMLS:CN203743 Orphanet:314041" MONDO:0033258 "OMIM:617605 DOID:0080267 Orphanet:90635" MONDO:0019090 -MONDO:0002909 "Abnormally high level of glucose in the blood." "UMLS:C0020456 ICD9:790.6 MESH:D006943 SCTID:80394007 DOID:4195 ICD10:R73.9 NCIT:C26797" +MONDO:0002909 "Abnormally high level of glucose in the blood." "UMLS:C0020456 ICD9:790.6 MESH:D006943 SCTID:80394007 DOID:4195 NCIT:C26797" http://identifiers.org/hgnc/2974 -MONDO:0014429 "A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." "UMLS:C4014863 Orphanet:319581 OMIM:615978 ICD10:D84.8" +MONDO:0014429 "A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." "UMLS:C4014863 Orphanet:319581 ICD10CM:D84.8 OMIM:615978" http://identifiers.org/hgnc/24268 GO:0043436 "The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons)." -MONDO:0018039 "Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement." "DOID:0050222 GARD:0012547 ICD10:D80.4 ICD9:279.02 Orphanet:331235 SCTID:190980000" +MONDO:0018039 "Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement." "DOID:0050222 GARD:0012547 ICD9:279.02 Orphanet:331235 SCTID:190980000" http://identifiers.org/hgnc/6665 MONDO:0014742 "Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene." "OMIM:616710 DOID:0080504 UMLS:C4225238" -MONDO:0010396 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene." "Orphanet:505652 OMIM:300672 UMLS:C1839333 MESH:C564064 DOID:0080467 ICD10:G40.4" +MONDO:0010396 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene." "Orphanet:505652 OMIM:300672 UMLS:C1839333 MESH:C564064 DOID:0080467" UBERON:0006966 http://identifiers.org/hgnc/25461 http://identifiers.org/hgnc/3072 -MONDO:0019672 "Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." "ICD10:Q72.6 Orphanet:93323" +MONDO:0019672 "Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." "Orphanet:93323" http://identifiers.org/hgnc/5201 MONDO:0000636 "A benign neoplasm that involves the musculoskeletal system." "DOID:0060099" MONDO:0041161 "A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia)." "HP:0040298 DOID:0080365 NCIT:C3013 UMLS:C0014173 SCTID:237072009" @@ -13104,25 +13100,25 @@ CL:0002332 "A ciliated cell of the bronchus." MONDO:0007054 "UMLS:C1863321 OMIM:102350" http://identifiers.org/hgnc/5467 MONDO:0021486 "A benign neoplasm that involves the ciliary body." "SCTID:92060009 NCIT:C4779 UMLS:C0496894 ICD9:224.0" -MONDO:0016491 "Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia." "UMLS:C0472777 ICD10:D58.2 Orphanet:231249" -MONDO:0015395 "ICD10:Q31.1 SCTID:204552001 Orphanet:141121 ICD9:748.3" +MONDO:0016491 "Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia." "UMLS:C0472777 ICD10CM:D58.2 Orphanet:231249" +MONDO:0015395 "ICD10CM:Q31.1 SCTID:204552001 Orphanet:141121 ICD9:748.3" NCBITaxon:2499403 "GC_ID:1" GO:0030221 "The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell." http://identifiers.org/hgnc/6664 MONDO:0004957 "An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland." "MESH:D002288 EFO:0000197 NCIT:C26712 ICDO:8480/3 UMLS:C0334368 ONCOTREE:CEMU UMLS:C0007130 DOID:3030" http://identifiers.org/hgnc/2973 MONDO:0000236 "A anthrax infection that involves the oropharynx." "DOID:0050059" -MONDO:0019660 "Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." "Orphanet:93259 ICD10:Q87.0 UMLS:CN206534" -MONDO:0018664 "A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations." "SCTID:78250005 ICD9:746.87 MESH:D054083 Orphanet:448270 ICD10:Q24.8 NCIT:C111643 HP:0001683" +MONDO:0019660 "Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." "Orphanet:93259 ICD10CM:Q87.0 UMLS:CN206534" +MONDO:0018664 "A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations." "SCTID:78250005 ICD9:746.87 MESH:D054083 Orphanet:448270 ICD10CM:Q24.8 NCIT:C111643 HP:0001683" MONDO:0100321 "A viral infectious disease that result from the presence and activity of a viral agent, or a disorder that follows infection with an viral agent but is distinct from the usual manifestations of the infection itself." MONDO:0016592 "Orphanet:247239" NCBITaxon:188550 "GC_ID:1" http://identifiers.org/hgnc/7863 -MONDO:0002104 "Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve." "MESH:D003291 ICD10:F44 ICD9:300.11 DOID:1768 GARD:0006191" +MONDO:0002104 "Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve." "MESH:D003291 ICD9:300.11 DOID:1768 GARD:0006191" UBERON:0006965 MONDO:0015107 "OBSOLETE. A form of eye disease that is both rare and inborn." "Orphanet:101435 UMLS:CN197465" http://identifiers.org/hgnc/5466 -MONDO:0017791 "ICD10:Q78.0 UMLS:CN203741 Orphanet:314029" +MONDO:0017791 "UMLS:CN203741 ICD10CM:Q78.0 Orphanet:314029" HP:0003073 "Reduction in the concentration of albumin in the blood." "UMLS:C0239981 SNOMEDCT_US:119247004 MSH:D034141" CHEBI:36340 "Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi." http://identifiers.org/hgnc/6663 @@ -13130,12 +13126,12 @@ http://identifiers.org/hgnc/2976 MONDO:0006630 "A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte)." "SCTID:8847002 MESH:D055013 EFO:1000787" MONDO:0003537 "A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)" "NCIT:C8694 ICDO:9837/3 UMLS:C1301359 DOID:5599" UBERON:0005501 -MONDO:0009451 "ICD9:279.13 UMLS:CN206066 DOID:2012 SCTID:55602000 ICD10:D81.4 GARD:0007201 Orphanet:83471 MESH:C536288 OMIM:242700" +MONDO:0009451 "ICD9:279.13 UMLS:CN206066 DOID:2012 SCTID:55602000 GARD:0007201 Orphanet:83471 MESH:C536288 OMIM:242700" UBERON:0009200 http://identifiers.org/hgnc/20305 -MONDO:0019466 "Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever." "MESH:D008230 GARD:0006943 ONCOTREE:LYG UMLS:C0024307 ICDO:9766/1 ICD10:C83.8 NCIT:C7930 Orphanet:86869 SCTID:239940004 MedDRA:10025325" +MONDO:0019466 "Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever." "MESH:D008230 GARD:0006943 ONCOTREE:LYG UMLS:C0024307 ICDO:9766/1 ICD10CM:C83.8 NCIT:C7930 Orphanet:86869 SCTID:239940004 MedDRA:10025325" MONDO:0008253 "UMLS:C1868263 OMIM:173400 MESH:C566800" -MONDO:0008707 "Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested." "ICD10:Q87.8 UMLS:C1860166 GARD:0000480 SCTID:720414005 Orphanet:958 MESH:C535665 OMIM:200980" +MONDO:0008707 "Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested." "UMLS:C1860166 GARD:0000480 SCTID:720414005 Orphanet:958 MESH:C535665 OMIM:200980 ICD10CM:Q87.8" NCBITaxon:5864 "GC_ID:1" GO:0045821 "Any process that activates or increases the frequency, rate or extent of glycolysis." MONDO:0007126 "Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene." "OMIM:106300 DOID:0080603" @@ -13151,7 +13147,7 @@ MONDO:0006280 "A benign tumor that arises from the lung. It is characterized by http://identifiers.org/hgnc/22965 MONDO:0009450 "MESH:C536287 Orphanet:244 SCTID:233665006 OMIM:242680 ICD9:759.89 GARD:0002982" UBERON:0009201 -MONDO:0021513 "A benign neoplasm that involves the tonsil." "ICD9:210.5 ICD10:D10.4 NCIT:C3594 SCTID:92263001 UMLS:C0153936" +MONDO:0021513 "A benign neoplasm that involves the tonsil." "ICD9:210.5 NCIT:C3594 SCTID:92263001 UMLS:C0153936 ICD10CM:D10.4" UBERON:0005502 MONDO:0008252 "OMIM:173395" MONDO:0054722 "OMIM:617809 DOID:0111727" @@ -13163,21 +13159,21 @@ MONDO:0016590 http://identifiers.org/hgnc/1777 MONDO:0054723 "DOID:0070170 OMIM:617592" http://identifiers.org/hgnc/5464 -MONDO:0011920 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene." "DOID:0110571 ICD10:H90.3 OMIM:607841 UMLS:C1842939 MESH:C564322" +MONDO:0011920 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene." "DOID:0110571 OMIM:607841 UMLS:C1842939 MESH:C564322" GO:0043603 "The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells." GO:0061178 "Any process that modulates the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose." -MONDO:0010354 "Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency." "OMIM:300523 Orphanet:280270 ICD10:G31.8 ICD10:E03.1 DOID:0050631 GARD:0005617 NCIT:C118843 Orphanet:59 SCTID:702327009 UMLS:C0795889 MESH:C537047" -MONDO:0010024 "Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal." "UMLS:C0432198 ICD10:Q77.2 SCTID:254052001 GARD:0004832 ICD9:756.9 DOID:9249 MESH:C537599 Orphanet:93268 OMIM:269860" +MONDO:0010354 "Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency." "OMIM:300523 Orphanet:280270 DOID:0050631 GARD:0005617 NCIT:C118843 Orphanet:59 SCTID:702327009 UMLS:C0795889 MESH:C537047 ICD10CM:E03.1" +MONDO:0010024 "Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal." "UMLS:C0432198 SCTID:254052001 GARD:0004832 ICD10CM:Q77.2 ICD9:756.9 DOID:9249 MESH:C537599 Orphanet:93268 OMIM:269860" UBERON:0005769 http://identifiers.org/hgnc/20303 http://identifiers.org/hgnc/4274 http://identifiers.org/hgnc/1515 -MONDO:0015480 "Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome." "ICD10:Q10.3 Orphanet:155884 SCTID:763132003" +MONDO:0015480 "Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome." "Orphanet:155884 ICD10CM:Q10.3 SCTID:763132003" MONDO:0005350 "Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs." "OMIM:100070 OMIM:611891 OMIM:614375 DOID:7693 EFO:0004214 MESH:D017544 UMLS:C0162871 SCTID:233985008 OMIM:609782 NCIT:C27000" UBERON:0008266 -MONDO:0005668 "Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis." "OMIM:145300 MedDRA:10004941 NCIT:C34425 UMLS:C0005592 Orphanet:99908 DOID:13891 ICD9:495.2 ICD10:J67.2 EFO:0007170 MESH:D001716 SCTID:69339004" +MONDO:0005668 "Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis." "OMIM:145300 MedDRA:10004941 NCIT:C34425 ICD10CM:J67.2 UMLS:C0005592 Orphanet:99908 DOID:13891 ICD9:495.2 EFO:0007170 MESH:D001716 SCTID:69339004" MONDO:0002157 -MONDO:0010787 "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." "NCIT:C84798 MESH:D007625 Orphanet:480 ICD10:H49.81 ICD10:H49.8 DOID:12934 GARD:0006817 SCTID:25792000 MedDRA:10048804 UMLS:C0022541 OMIM:530000" +MONDO:0010787 "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." "NCIT:C84798 MESH:D007625 Orphanet:480 DOID:12934 GARD:0006817 SCTID:25792000 MedDRA:10048804 ICD10CM:H49.8 UMLS:C0022541 OMIM:530000" UBERON:0008000 MONDO:0054726 "OMIM:617706 DOID:0070177" http://identifiers.org/hgnc/21504 @@ -13187,18 +13183,18 @@ CHR:9606-chr17q21.31 GO:0015888 "The directed movement of thiamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Thiamine is vitamin B1, a water soluble vitamin present in fresh vegetables and meats, especially liver." http://identifiers.org/hgnc/2979 MONDO:0007050 "UMLS:CN225973 OMIM:102100 MESH:C535654 GARD:0000500 Orphanet:964" -MONDO:0013429 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene." "UMLS:C3151107 OMIM:613801 DOID:0110375 ICD10:H35.5" +MONDO:0013429 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene." "UMLS:C3151107 OMIM:613801 DOID:0110375" GO:0010970 "The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity." http://identifiers.org/hgnc/2711 http://identifiers.org/hgnc/24265 NCBITaxon:337677 "PMID:15371245 GC_ID:1" ENVO:01001087 "A process during which an aerosol, consisting of droplets of liquid suspended in gas, is formed in an atmosphere." MONDO:0024656 "An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas." "NCIT:C96498 UMLS:C3272822" -MONDO:0001234 "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear." "UMLS:C0155478 ICD10:H74.1 ICD9:385.1 ICD9:385.10 SCTID:7699004 DOID:11235" +MONDO:0001234 "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear." "UMLS:C0155478 ICD9:385.1 ICD9:385.10 SCTID:7699004 DOID:11235 ICD10CM:H74.1" NCBITaxon:10310 "GC_ID:1" GO:0007618 "The pairwise union of individuals for the purpose of sexual reproduction, ultimately resulting in the formation of zygotes." http://identifiers.org/hgnc/1514 -MONDO:0008250 "SCTID:237687003 OMIM:173100 MESH:C562704 GARD:0001696 Orphanet:231679 Orphanet:631 ICD10:E23.0 DOID:0060872 UMLS:C0271567" +MONDO:0008250 "ICD10CM:E23.0 MESH:C562704 GARD:0001696 DOID:0060872 Orphanet:231679 SCTID:237687003 OMIM:173100 UMLS:C0271567 Orphanet:631" GO:0008509 "Enables the transfer of a negatively charged ion from one side of a membrane to the other." http://identifiers.org/hgnc/1513 CL:0002166 "An epithelial cell that remains from the disintegration of the epithelial root sheath involved in the development of teeth." "FMA:62987" @@ -13209,47 +13205,48 @@ MONDO:0007344 "An instance of cluster headache syndrome that is caused by an inh http://identifiers.org/hgnc/2978 http://identifiers.org/hgnc/19316 NCBITaxon:1437183 "PMID:25249442 GC_ID:1" -MONDO:0008711 "Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome." "ICD10:Q87.0 GARD:0002549 SCTID:720600004 MESH:C537287 OMIM:201020 Orphanet:65798" +MONDO:0008711 "Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome." "GARD:0002549 SCTID:720600004 MESH:C537287 OMIM:201020 Orphanet:65798 ICD10CM:Q87.0" GO:0051336 "Any process that modulates the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3." UBERON:0003368 UBERON:0003102 http://identifiers.org/hgnc/22962 UBERON:0001806 -MONDO:0013935 "Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene." "UMLS:C3553944 Orphanet:231169 Orphanet:886 OMIM:614869 DOID:0110836 ICD10:H35.5" +MONDO:0013935 "Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene." "UMLS:C3553944 Orphanet:231169 Orphanet:886 OMIM:614869 DOID:0110836" MONDO:0018732 MONDO:0016337 "Orphanet:217619 UMLS:CN201167" MONDO:0002772 "A meningioma that affects the ventricles of the brain." "DOID:3772 MESH:D008579 UMLS:C1334271 NCIT:C5273" http://identifiers.org/hgnc/8804 MONDO:0054728 "OMIM:617959 UMLS:CN244570" -MONDO:0020517 "A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes." "MedDRA:10014956 ICD9:277.89 ICDO:9752/1 SCTID:129000002 Orphanet:99871 MESH:D004803 ICD10:C96.6 UMLS:C0014461 NCIT:C3016" +MONDO:0020517 "A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes." "MedDRA:10014956 ICD9:277.89 ICD10CM:C96.6 ICDO:9752/1 SCTID:129000002 Orphanet:99871 MESH:D004803 UMLS:C0014461 NCIT:C3016" HsapDv:0000125 "Adult stage that refers to an adult who is over 31 and under 32." http://identifiers.org/hgnc/16841 -MONDO:0017890 "Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (\"bubble wrap-like\") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported." "SCTID:733603009 ICD10:C64 UMLS:C4288091 Orphanet:319325 NCIT:C126303" +MONDO:0017890 "Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (\"bubble wrap-like\") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported." "ICD10CM:C64 SCTID:733603009 UMLS:C4288091 Orphanet:319325 NCIT:C126303" MONDO:0008257 "OMIM:173580" NCBITaxon:513042 "GC_ID:1" -MONDO:0005149 "Increased pressure within the pulmonary circulation due to lung or heart disorder." "DOID:6432 NCIT:C3120 EFO:0001361 SCTID:70995007 ICD10:I27.2 OMIM:615371 MESH:D006976" +MONDO:0005149 "Increased pressure within the pulmonary circulation due to lung or heart disorder." "DOID:6432 NCIT:C3120 EFO:0001361 SCTID:70995007 OMIM:615371 MESH:D006976" http://identifiers.org/hgnc/7606 -MONDO:0017534 "ICD10:Q69.0 Orphanet:295169 UMLS:CN203265" +MONDO:0017534 "ICD10CM:Q69.0 Orphanet:295169 UMLS:CN203265" UBERON:0006960 MONDO:0009455 "OMIM:242870 UMLS:C1855762 MESH:C565468" MONDO:0002887 "A disease involving the bile duct." "DOID:4138 UMLS:C0005395 SCTID:118926004 NCIT:C96716 MESH:D001649" CHEBI:33708 "When two or more amino acids combine to form a peptide, the elements of water are removed, and what remains of each amino acid is called an amino-acid residue." -MONDO:0007741 "Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." "Orphanet:2190 ICD10:Q62.0 UMLS:C0266316 MedDRA:10050975 NCIT:C102979 SCTID:16297002 ICD9:753.29" +MONDO:0007741 "Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." "Orphanet:2190 UMLS:C0266316 MedDRA:10050975 ICD10CM:Q62.0 NCIT:C102979 SCTID:16297002 ICD9:753.29" UBERON:0003101 UBERON:0005764 MONDO:0025136 "An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals." "UMLS:C0041307 EFO:1001441 MESH:D014380" MONDO:0016336 "Orphanet:217616 UMLS:CN226905" UBERON:0001805 -MONDO:0016750 "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983." "Orphanet:2521 SCTID:719394002 ICD10:Q87.8 MESH:C535622 UMLS:C2930954 GARD:0008623" +MONDO:0016750 "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983." "Orphanet:2521 SCTID:719394002 MESH:C535622 UMLS:C2930954 GARD:0008623 ICD10CM:Q87.8" MONDO:0018733 "UMLS:CN242084 Orphanet:464311" -MONDO:0014492 "Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent." "UMLS:C4015202 Orphanet:420686 ICD10:Q82.8 OMIM:616099 SCTID:764108000" -MONDO:0021478 "A benign neoplasm that involves the nasopharynx." "NCIT:C3595 UMLS:C0153938 SCTID:188800003 ICD9:210.7 ICD10:D10.6" +MONDO:0014492 "Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent." "UMLS:C4015202 Orphanet:420686 ICD10CM:Q82.8 OMIM:616099 SCTID:764108000" +MONDO:0021478 "A benign neoplasm that involves the nasopharynx." "ICD10CM:D10.6 NCIT:C3595 UMLS:C0153938 SCTID:188800003 ICD9:210.7" http://identifiers.org/hgnc/8805 http://identifiers.org/hgnc/6408 +MONDO:8000024 "Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene." "OMIM:615559 DOID:0110119 UMLS:C3809928" ENVO:01001143 "A planet which has a surface layer that nearly completely or completely covered by lava, and which has a substantial portion of its mass composed of lava." -MONDO:0012948 "Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." "Orphanet:96125 OMIM:612582 MESH:C567239 SCTID:718688008 UMLS:C4305276 DOID:0060422 ICD10:Q93.5 UMLS:C2675486" +MONDO:0012948 "Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." "MESH:C567239 ICD10CM:Q93.5 DOID:0060422 Orphanet:96125 SCTID:718688008 UMLS:C4305276 OMIM:612582 UMLS:C2675486" CL:0000169 "A cell that secretes insulin and is located towards the center of the islets of Langerhans." "EV:0200009 ncithesaurus:Beta_Cell MA:0002419 BTO:0000783 FMA:70586" -MONDO:0018696 "Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction." "Orphanet:454887 ICD10:G31.0 UMLS:CN237765" +MONDO:0018696 "Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction." "Orphanet:454887 ICD10CM:G31.0 UMLS:CN237765" GO:0046485 "The chemical reactions and pathways involving ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol." MONDO:0004488 "An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity." "UMLS:C1516409 NCIT:C40234 DOID:8179" MONDO:0054727 "OMIM:617707 UMLS:C4540185 DOID:0070181" @@ -13258,17 +13255,17 @@ UBERON:0004300 UBERON:0002169 MONDO:0015138 "Orphanet:101997 UMLS:C0398686 SCTID:58606001" MONDO:0008256 "OMIM:173560" -MONDO:0017535 "ICD10:Q69.0 Orphanet:295171" -MONDO:0005068 "Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis." "UMLS:C0027051 OMIM:608557 OMIM:608446 ICD10:I21 ICD10:I22 HP:0001658 DOID:5844 SCTID:22298006 EFO:0000612 NCIT:C27996 MESH:D009203" +MONDO:0017535 "ICD10CM:Q69.0 Orphanet:295171" +MONDO:0005068 "Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis." "UMLS:C0027051 OMIM:608557 OMIM:608446 HP:0001658 DOID:5844 SCTID:22298006 EFO:0000612 ICD10CM:I21 NCIT:C27996 MESH:D009203" MONDO:0002475 "A carcinoma that arises from glandular epithelial cells of the lacrimal gland" "SCTID:254988008 UMLS:C0346341 DOID:298 NCIT:C4541" -MONDO:0018677 "A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton." "MedDRA:10067265 OMIM:605376 EFO:0009081 OMIM:614779 OMIM:306955 OMIMPS:306955 OMIM:616749 OMIM:606325 ICD10:Q89.3 OMIM:601086 OMIM:270100 DOID:0050545 NCIT:C117273 UMLS:C3178805 OMIM:613751 OMIM:617205 Orphanet:450" +MONDO:0018677 "A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton." "MedDRA:10067265 OMIM:605376 EFO:0009081 OMIM:614779 OMIM:306955 OMIMPS:306955 OMIM:616749 OMIM:606325 OMIM:601086 OMIM:270100 DOID:0050545 NCIT:C117273 ICD10CM:Q89.3 UMLS:C3178805 OMIM:613751 OMIM:617205 Orphanet:450" NCBITaxon:7164 "GC_ID:1" ECTO:4000030 "A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of soil." -MONDO:0013336 "19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation)." "UMLS:C3150894 OMIM:613638 DOID:0060426 ICD10:Q93.5 SCTID:764440006 Orphanet:357001 UMLS:CN204595" +MONDO:0013336 "19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation)." "UMLS:C3150894 OMIM:613638 DOID:0060426 SCTID:764440006 Orphanet:357001 UMLS:CN204595 ICD10CM:Q93.5" FOODON:00001256 "A dairy food product has mammilian milk or a milk component as an ingredient."@en "http://www.langual.org/langual_thesaurus.asp?termid=H0242" UBERON:0003104 -MONDO:0000723 "A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age." "OMIM:614668 ICD10:F80.81 OMIM:614655 OMIM:184450 OMIM:609261 DOID:0060243 NCIT:C35043 OMIMPS:184450" -MONDO:0005570 "A disease involving the hematopoietic system." "MESH:D006402 SCTID:414022008 GTR:AN1320635 UMLS:C0018939 ICD9:289.8 UMLS:CN882913 Orphanet:97992 NCIT:C26323 EFO:0005803 DOID:74 ICD9:280-289.99 ICD9:289.9 ICD10:D75.9 UMLS:CN206939" +MONDO:0000723 "A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age." "OMIM:614668 OMIM:614655 OMIM:184450 OMIM:609261 DOID:0060243 NCIT:C35043 OMIMPS:184450" +MONDO:0005570 "A disease involving the hematopoietic system." "MESH:D006402 ICD10CM:D50-D89 SCTID:414022008 GTR:AN1320635 UMLS:C0018939 ICD9:289.8 UMLS:CN882913 ICD10CM:P50-P61 Orphanet:97992 NCIT:C26323 EFO:0005803 DOID:74 ICD9:280-289.99 ICD10CM:D70-D77 ICD9:289.9 UMLS:CN206939" MONDO:0016335 "UMLS:CN201166 Orphanet:217613" MONDO:0004071 "An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children." "MESH:D001254 UMLS:C0338070 GARD:0009302 DOID:7007 NCIT:C4347" HP:0001337 "An unintentional, oscillating to-and-fro muscle movement about a joint axis." "SNOMEDCT_US:26079004 UMLS:C0040822 MSH:D014202" @@ -13285,22 +13282,22 @@ GO:0060005 "A reflex process in which a response to an angular or linear acceler UBERON:0004301 MONDO:0014393 "Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene." "DOID:0070209 UMLS:C4014628 OMIM:615907 Orphanet:79452" NCBITaxon:513040 "GC_ID:1" -MONDO:0017399 "Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." "SCTID:716667005 Orphanet:293848 ICD10:G31.0 UMLS:CN203142 OMIM:600274" +MONDO:0017399 "Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy." "SCTID:716667005 Orphanet:293848 ICD10CM:G31.0 UMLS:CN203142 OMIM:600274" MONDO:0008255 "UMLS:C1868256 MESH:C566798 OMIM:173450" -MONDO:0019931 "UMLS:CN206848 OMIM:238320 Orphanet:96266 ICD10:Q56.1" +MONDO:0019931 "UMLS:CN206848 OMIM:238320 ICD10CM:Q56.1 Orphanet:96266" MONDO:0009453 "MESH:C565469 UMLS:C1855771 OMIM:242850" -MONDO:0017798 "Orphanet:314432 UMLS:CN203757 ICD10:K43.6" -MONDO:0017532 "UMLS:CN203263 Orphanet:295165 ICD10:Q69.0" -MONDO:0018735 "Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas." "NCIT:C60672 UMLS:CN242151 ICD10:D18.1 Orphanet:464321 GARD:0010467" +MONDO:0017798 "Orphanet:314432 UMLS:CN203757 ICD10CM:K43.6" +MONDO:0017532 "UMLS:CN203263 Orphanet:295165 ICD10CM:Q69.0" +MONDO:0018735 "Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas." "NCIT:C60672 ICD10CM:D18.1 UMLS:CN242151 Orphanet:464321 GARD:0010467" http://identifiers.org/hgnc/5209 MONDO:0002900 "A neuroblastoma arising from the cerebral hemispheres." "DOID:4164 SCTID:281560004 NCIT:C4826 UMLS:C0559458" MONDO:0005899 "A disease involving the parotid gland." "UMLS:C0030579 DOID:10302 EFO:0007422 MESH:D010305" -MONDO:0006456 "A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." "ICD10:D15.0 EFO:1000581 MedDRA:10043670 ICD10:D38.4 SCTID:444231005 DOID:3275 NCIT:C3411 OMIM:274230 UMLS:C0040100 ICD9:239.89 ONCOTREE:THYM Orphanet:99867 ICDO:8580/1 HP:0100522" +MONDO:0006456 "A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course." "EFO:1000581 MedDRA:10043670 SCTID:444231005 DOID:3275 ICD10CM:D15.0 NCIT:C3411 OMIM:274230 UMLS:C0040100 ICD10CM:D38.4 ICD9:239.89 ONCOTREE:THYM Orphanet:99867 ICDO:8580/1 HP:0100522" GO:0046323 "The directed movement of the hexose monosaccharide glucose into a cell or organelle." UBERON:0003103 MONDO:0018731 "Orphanet:459787" CHEBI:26878 "A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it." -MONDO:0001557 "A bursitis that involves the olecranon." "DOID:12581 UMLS:C0263962 ICD10:M70.2 UMLS:C3887895 ICD9:726.33 SCTID:425940002" +MONDO:0001557 "A bursitis that involves the olecranon." "DOID:12581 UMLS:C0263962 UMLS:C3887895 ICD10CM:M70.2 ICD9:726.33 SCTID:425940002" MONDO:0016334 "UMLS:CN201165 Orphanet:217610" HP:0030348 "An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone." "UMLS:C4072893" GO:1903788 "Any process that activates or increases the frequency, rate or extent of glutathione biosynthetic process." @@ -13312,25 +13309,25 @@ GO:0004871 "OBSOLETE. Conveys a signal across a cell to trigger a change in cell MONDO:0054729 "OMIM:617960" CL:0009042 "An enteroendocrine cell that is located in the colon." NCBITaxon:7162 "GC_ID:1" -MONDO:0019930 "ICD10:Q56.1 UMLS:CN206847 OMIM:238320 Orphanet:96265" -MONDO:0019036 "Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units." "Orphanet:68 ICD10:B60.1 ICD10:B60.2 GARD:0012650 UMLS:CN205519" -MONDO:0009736 "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene." "ICD10:Q87.8 OMIM:256520 OMIM:616038 MESH:C536405 DOID:0080076 UMLS:CN032230 UMLS:C0265218" +MONDO:0019930 "UMLS:CN206847 ICD10CM:Q56.1 OMIM:238320 Orphanet:96265" +MONDO:0019036 "Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units." "Orphanet:68 ICD10CM:B60.1 GARD:0012650 UMLS:CN205519 ICD10CM:B60.2" +MONDO:0009736 "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene." "OMIM:256520 OMIM:616038 MESH:C536405 DOID:0080076 UMLS:CN032230 UMLS:C0265218" MONDO:0008254 "MESH:C566799 UMLS:C1868258 OMIM:173420" GO:1903793 "Any process that activates or increases the frequency, rate or extent of anion transport." -MONDO:0017533 "Orphanet:295167 UMLS:CN203264 ICD10:Q69.0" +MONDO:0017533 "Orphanet:295167 UMLS:CN203264 ICD10CM:Q69.0" http://identifiers.org/hgnc/5208 -MONDO:0015136 "ICD10:D84.1 Orphanet:101992" +MONDO:0015136 "Orphanet:101992" http://identifiers.org/hgnc/7605 -MONDO:0019509 "Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms." "GARD:0007851 ICD10:M31.0 SCTID:718217000 NCIT:C122919 Orphanet:889" -MONDO:0007762 "A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I." "ICD10:E78.3 MedDRA:10060755 DOID:1171 SCTID:34349009 OMIM:144650 MESH:D006954 Orphanet:70470 NCIT:C35645 GARD:0006704" +MONDO:0019509 "Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms." "GARD:0007851 SCTID:718217000 NCIT:C122919 Orphanet:889 ICD10CM:M31.0" +MONDO:0007762 "A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I." "MedDRA:10060755 ICD10CM:E78.3 DOID:1171 SCTID:34349009 OMIM:144650 MESH:D006954 Orphanet:70470 NCIT:C35645 GARD:0006704" http://identifiers.org/hgnc/23063 -MONDO:0008792 "Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously." "Orphanet:199279 ICD10:D17.9 OMIM:206550 MESH:C565951 UMLS:C1859784" +MONDO:0008792 "Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously." "ICD10CM:D17.9 Orphanet:199279 OMIM:206550 MESH:C565951 UMLS:C1859784" UBERON:0001802 CHR:9606-chrXp -MONDO:0010418 "X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients." "UMLS:C2677897 MESH:C567465 SCTID:763370008 OMIM:300750 Orphanet:171607 ICD10:G11.4 DOID:0110785" +MONDO:0010418 "X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients." "UMLS:C2677897 MESH:C567465 SCTID:763370008 ICD10CM:G11.4 OMIM:300750 Orphanet:171607 DOID:0110785" GO:1902491 "Any process that stops, prevents or reduces the frequency, rate or extent of sperm capacitation." NCBITaxon:63671 "GC_ID:1" -MONDO:0020530 "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." "Orphanet:99898 MESH:C535530 ICD10:D84.8 GARD:0003011 UMLS:C2930924 OMIM:209950" +MONDO:0020530 "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." "Orphanet:99898 MESH:C535530 GARD:0003011 UMLS:C2930924 ICD10CM:D84.8 OMIM:209950" MONDO:0003957 "A pineoblastoma occurring in adults." "NCIT:C8292 UMLS:C0281332 DOID:6648" MONDO:0001922 "An abscess that is located in the ureter." "UMLS:C0034223 ICD9:593.89 DOID:1425 NCIT:C35666 SCTID:85884009" http://identifiers.org/hgnc/8800 @@ -13341,20 +13338,20 @@ UBERON:0006964 MONDO:0017796 MONDO:0015135 "Orphanet:101988" http://identifiers.org/hgnc/7602 -MONDO:0017530 "UMLS:CN203261 Orphanet:295161 ICD10:Q70.4" +MONDO:0017530 "UMLS:CN203261 ICD10CM:Q70.4 Orphanet:295161" GO:2000243 "Any process that activates or increases the frequency, rate or extent of reproductive process." MONDO:0000597 "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others." "GARD:0007117 MESH:D016735 SCTID:95637005 DOID:0060045" -MONDO:0016580 "An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size." "GARD:0006232 ICD10:Q33.0 SCTID:111318005 NCIT:C98892 MESH:D015615 Orphanet:2444" +MONDO:0016580 "An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size." "GARD:0006232 SCTID:111318005 NCIT:C98892 MESH:D015615 ICD10CM:Q33.0 Orphanet:2444" UBERON:0001801 GO:2000819 "Any process that modulates the frequency, rate or extent of nucleotide-excision repair." NCBITaxon:63672 "GC_ID:1" HsapDv:0000121 "Adult stage that refers to an adult who is over 27 and under 28." MONDO:0021473 "A benign neoplasm that involves the epididymis." "NCIT:C3614 UMLS:C0154010 ICD9:222.3 SCTID:92088003" -MONDO:0016332 "ICD10:I42.2 UMLS:CN226904 Orphanet:217601" -MONDO:0015526 "Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature." "DOID:0060294 Orphanet:157820 OMIMPS:272430 ICD10:G90.8 SCTID:702363009 OMIM:272430 UMLS:CN043579 MESH:C536214 OMIM:617055 OMIM:610313" -MONDO:0016598 "ICD10:D75.1 UMLS:CN226972 Orphanet:247378" +MONDO:0016332 "UMLS:CN226904 ICD10CM:I42.2 Orphanet:217601" +MONDO:0015526 "Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature." "DOID:0060294 Orphanet:157820 ICD10CM:G90.8 OMIMPS:272430 SCTID:702363009 OMIM:272430 UMLS:CN043579 MESH:C536214 OMIM:617055 OMIM:610313" +MONDO:0016598 "ICD10CM:D75.1 UMLS:CN226972 Orphanet:247378" MONDO:0024615 "UMLS:C1336554 NCIT:C27908" -MONDO:0009021 "Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." "ICD10:Q87.8 UMLS:C0796184 SCTID:722477003 MESH:C563127 Orphanet:3338 GARD:0005225 OMIM:217980" +MONDO:0009021 "Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." "UMLS:C0796184 SCTID:722477003 MESH:C563127 ICD10CM:Q87.8 Orphanet:3338 GARD:0005225 OMIM:217980" CHEBI:47622 "Any carboxylic ester where the carboxylic acid component is acetic acid." UBERON:0005760 http://identifiers.org/hgnc/6404 @@ -13363,7 +13360,7 @@ MONDO:0000540 "A well differentiated, low grade neuroendocrine tumor (carcinoid GO:0019220 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates." http://identifiers.org/hgnc/7869 NCBITaxon:513045 "GC_ID:1" -MONDO:0017531 "ICD10:Q69.0 Orphanet:295163 UMLS:CN203262" +MONDO:0017531 "Orphanet:295163 UMLS:CN203262 ICD10CM:Q69.0" MONDO:0006958 http://identifiers.org/hgnc/7603 UBERON:0002165 @@ -13378,7 +13375,7 @@ GO:0051648 "Any process in which a vesicle or vesicles are transported to, and/o ENVO:01001084 "A process during which microscopic solid or liquid objects are formed." UBERON:0002168 GO:0016667 "Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor." -MONDO:0014107 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene." "OMIM:615271 UMLS:C3808986 DOID:0090093 Orphanet:478 ICD10:E23.0" +MONDO:0014107 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene." "OMIM:615271 UMLS:C3808986 DOID:0090093 Orphanet:478" MONDO:0015133 "Orphanet:101985" CHEBI:23123 "A haloacetate(1-) resulting from the deprotonation of the carboxy group of chloroacetic acid." MONDO:0012240 "Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene." "OMIM:609285 MESH:C538351 DOID:0110932 UMLS:C1836447 Orphanet:171881 Orphanet:607" @@ -13386,7 +13383,7 @@ NCBITaxon:7165 "GC_ID:1 PMID:16076241" MONDO:0009457 "OMIM:242890" MONDO:0000937 "An encephalitis caused by infection with Treponema." "SCTID:26135000 DOID:10081 ICD9:094.81 UMLS:C0153168" MONDO:0006959 -MONDO:0009401 "Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." "DOID:0080543 SCTID:717181004 MedDRA:10058512 ICD10:E72.5 MESH:C538385 Orphanet:79101 MedDRA:10058514 UMLS:C2931835 GARD:0006710 OMIM:239510" +MONDO:0009401 "Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." "DOID:0080543 SCTID:717181004 MedDRA:10058512 ICD10CM:E72.5 MESH:C538385 Orphanet:79101 MedDRA:10058514 UMLS:C2931835 GARD:0006710 OMIM:239510" http://identifiers.org/hgnc/7866 UBERON:0001803 UBERON:0003365 @@ -13395,15 +13392,15 @@ CHR:9606-chrXq MONDO:0002847 "A malignant neoplasm arising from skeletal muscle." "UMLS:C1334619 NCIT:C6516 DOID:4043" CL:0002420 "A T cell that has not completed T cell selection." "CALOHA:TS-1042 BTO:0001372" MONDO:0016596 "OMIMPS:239300 Orphanet:247262 OMIM:614749 UMLS:C1855923 OMIM:616025 OMIM:616809 OMIM:239300 OMIM:615716 OMIM:614207 SCTID:33982008" -MONDO:0006601 "A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated." "UMLS:C0032026 NCIT:C26855 ICD10:L42 MESH:D017515 EFO:1000756 DOID:8892 Wikipedia:Pityriasis_rosea ICD9:696.3 SCTID:77252004" +MONDO:0006601 "A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated." "UMLS:C0032026 NCIT:C26855 ICD10CM:L42 MESH:D017515 EFO:1000756 DOID:8892 Wikipedia:Pityriasis_rosea ICD9:696.3 SCTID:77252004" MONDO:0020779 "Any dysfunction in the growth of cartilage." "ICD9:756.9 UMLS:C0008449 NCIT:C34466 ICD9:756.4 SCTID:67988000" MONDO:0015932 "A non-syndromic urogenital tract malformation that involves the female organism." "Orphanet:182117" -MONDO:0009697 "Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline." "MedDRA:10054030 ICD10:G40.3 DOID:3534 GARD:0008214 Orphanet:501 MESH:D020192 NCIT:C84804 OMIM:254780 SCTID:230425004 UMLS:C0751783" +MONDO:0009697 "Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline." "MedDRA:10054030 ICD10CM:G40.3 DOID:3534 GARD:0008214 Orphanet:501 MESH:D020192 NCIT:C84804 OMIM:254780 SCTID:230425004 UMLS:C0751783" http://identifiers.org/hgnc/924 http://identifiers.org/hgnc/18145 PATO:0001655 "A concentration quality inhering in a bearer by virtue of the bearer's amount of osmoles of solute per liter of solution." HP:0001250 "A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." "SNOMEDCT_US:128613002 SNOMEDCT_US:91175000 MSH:D012640 SNOMEDCT_US:84757009 SNOMEDCT_US:246545002 UMLS:C0014544 MSH:D004827 UMLS:C0036572 SNOMEDCT_US:313307000" -MONDO:0007290 "Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene." "Orphanet:91492 DOID:0110255 OMIM:116800 MESH:C535342 Orphanet:98995 ICD10:Q12.0" +MONDO:0007290 "Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene." "Orphanet:91492 DOID:0110255 OMIM:116800 MESH:C535342 Orphanet:98995" UBERON:0002167 GO:0022414 "A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents." http://identifiers.org/hgnc/923 @@ -13411,53 +13408,53 @@ MONDO:0003921 "A meningioma that affects the posterior foramen magnum." "DOID:65 MONDO:0008258 "MESH:C566796 UMLS:C1868199 OMIM:173590" HP:0004444 "The presence of erythrocytes that are sphere-shaped." "UMLS:C0553720 SNOMEDCT_US:17235000" GO:1903170 "Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion transmembrane transport." -MONDO:0015398 "ICD10:Q75.8 SCTID:109393007 UMLS:CN199493 GARD:0006582 Orphanet:141136" +MONDO:0015398 "ICD10CM:Q75.8 SCTID:109393007 UMLS:CN199493 GARD:0006582 Orphanet:141136" MONDO:0006635 "Infections with bacteria of the genus acinetobacter." "MESH:D000151 DOID:3091 UMLS:C0001139 EFO:1000792" -MONDO:0009258 "Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." "DOID:0111459 Orphanet:352 ICD10:E74.2 Orphanet:79239 SCTID:10899004 OMIM:230400" +MONDO:0009258 "Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." "DOID:0111459 Orphanet:352 ICD10CM:E74.2 Orphanet:79239 SCTID:10899004 OMIM:230400" MONDO:0009456 "OMIM:242880 UMLS:CN074232 UMLS:C0272167" -MONDO:0015132 "ICD10:D80.8 ICD10:D80.3 ICD10:D80.5 ICD10:D80.1 ICD10:D80.7 Orphanet:101977 ICD10:D80.2 ICD10:D80.4 ICD10:D80.0 ICD10:D80.6 ICD10:D80.9" +MONDO:0015132 "ICD10CM:D80.9 ICD10CM:D80.6 ICD10CM:D80.7 Orphanet:101977 ICD10CM:D80.4 ICD10CM:D80.0 ICD10CM:D80.2 ICD10CM:D80.5 ICD10CM:D80.1 ICD10CM:D80.3 ICD10CM:D80.8" http://identifiers.org/hgnc/7601 MONDO:0100082 "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24." "OMIM:151100 DOID:0080548" http://identifiers.org/hgnc/11040 UBERON:0002380 MONDO:0018934 MONDO:0044233 "OMIM:139400" -MONDO:0015089 "Autosomal recessive form of complex hereditary spastic paraplegia." "ICD10:G11.4 UMLS:CN228909 Orphanet:100981" -MONDO:0012988 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene." "OMIM:612702 MESH:C567199 UMLS:C3552574 DOID:0090086 GARD:0010774 ICD10:E23.0" -MONDO:0012333 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." "MESH:C566453 UMLS:C1864746 OMIM:609706 ICD10:H90.3 DOID:0110509" +MONDO:0015089 "Autosomal recessive form of complex hereditary spastic paraplegia." "UMLS:CN228909 ICD10CM:G11.4 Orphanet:100981" +MONDO:0012988 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene." "OMIM:612702 MESH:C567199 UMLS:C3552574 DOID:0090086 GARD:0010774" +MONDO:0012333 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." "MESH:C566453 UMLS:C1864746 OMIM:609706 DOID:0110509" MONDO:0020284 "Orphanet:98716" MONDO:0000657 -MONDO:0019032 "Orphanet:67045 OMIM:300123 UMLS:C1848068 ICD10:E23.0" +MONDO:0019032 "Orphanet:67045 OMIM:300123 UMLS:C1848068 ICD10CM:E23.0" MONDO:0003151 MONDO:0014505 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene." "OMIM:616139 Orphanet:3451 UMLS:C4015316 DOID:0080444" MONDO:0005436 "Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality." "EFO:0004889" UBERON:0019241 GO:0009593 "The series of events in which a chemical stimulus is received by a cell and converted into a molecular signal." -MONDO:0001834 "A disorder of the neural pathway from the optic nerve to the visual cortex." "ICD10:H47.9 SCTID:95776004 NCIT:C35342 DOID:1393 SCTID:54767005 UMLS:C0155287" -MONDO:0017736 "ICD9:277.89 UMLS:C0342851 ICD10:E77.8 Orphanet:309319 SCTID:238050009" +MONDO:0001834 "A disorder of the neural pathway from the optic nerve to the visual cortex." "SCTID:95776004 NCIT:C35342 DOID:1393 SCTID:54767005 UMLS:C0155287 ICD10CM:H46-H47 ICD10CM:H47.9" +MONDO:0017736 "ICD9:277.89 ICD10CM:E77.8 UMLS:C0342851 Orphanet:309319 SCTID:238050009" UBERON:0001182 -MONDO:0013836 "Orphanet:280406 OMIM:614650 ICD10:N04.8 DOID:0070243 UMLS:C3553349" +MONDO:0013836 "Orphanet:280406 OMIM:614650 ICD10CM:N04.8 DOID:0070243 UMLS:C3553349" http://identifiers.org/hgnc/10941 MONDO:0000658 -MONDO:0018024 "A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas." "OMIM:603794 ICD10:L56.4 NCIT:C84766 SCTID:200837006 Orphanet:330058 GARD:0009654 MESH:D006837 UMLS:C0020241" +MONDO:0018024 "A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas." "ICD10CM:L56.4 OMIM:603794 NCIT:C84766 SCTID:200837006 Orphanet:330058 GARD:0009654 MESH:D006837 UMLS:C0020241" MONDO:0044783 "A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma." "NCIT:C6870 ONCOTREE:SPC" MONDO:0016538 FOODON:00002239 MONDO:0044232 "OMIM:136100" -MONDO:0015729 "Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay." "SCTID:764621006 Orphanet:1708 ICD10:Q92.1 MESH:C538041" +MONDO:0015729 "Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay." "SCTID:764621006 ICD10CM:Q92.1 Orphanet:1708 MESH:C538041" MONDO:0020285 "Orphanet:98717" NCBITaxon:2750822 "GC_ID:11" MONDO:0000656 CHR:9606-chr7p22.1 MONDO:0003152 "UMLS:C1377914 DOID:4812 NCIT:C9370" -MONDO:0016219 "Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown." "Orphanet:2104 GARD:0000352 UMLS:CN237430 ICD10:Q87.8" +MONDO:0016219 "Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown." "Orphanet:2104 GARD:0000352 UMLS:CN237430 ICD10CM:Q87.8" GO:0002250 "An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory)." http://identifiers.org/hgnc/10940 CL:0002202 "An epithelial cell of the tracheobronchial tree." "FMA:66816" -MONDO:0017737 "Orphanet:309331 UMLS:CN203640 GARD:0010871 ICD10:E77.8" +MONDO:0017737 "Orphanet:309331 ICD10CM:E77.8 UMLS:CN203640 GARD:0010871" HP:0001911 "Any structural abnormality or abnormal count of granulocytes." "UMLS:C0427515 SNOMEDCT_US:250274006" CHEBI:26607 "Any fatty acid containing no carbon to carbon multiple bonds. Known to produce adverse biological effects when ingested to excess." -MONDO:0001855 "ICD9:364.42 SCTID:51995000 ICD10:H21.1 UMLS:C0154916 DOID:14000" +MONDO:0001855 "ICD9:364.42 SCTID:51995000 UMLS:C0154916 DOID:14000" UBERON:0011845 CHEBI:26606 "Any organic polycyclic compound that is the aglycon moiety of a saponin; sapogenins may be steroids or triterpenoids." PATO:0001332 "A morphology quality inhering in a bearer by virtue of the bearer's lack of distinct morphology." @@ -13467,8 +13464,8 @@ GO:0034755 "A process in which an iron ion is transported from one side of a mem MONDO:0003429 "A hormone producing pituitary gland adenoma, associated with a hormonal syndrome." "Orphanet:314753 NCIT:C8388 UMLS:C0854486 DOID:5395" MONDO:0020286 "Orphanet:98718" MONDO:0020020 "Orphanet:98041" -MONDO:0007057 "Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." "ICD10:M89.5 Orphanet:955 UMLS:C0917715 MESH:C531695 GARD:0000508 MESH:C537586 SCTID:63122002 NCIT:C35545 OMIM:102400 SCTID:27201004 UMLS:C2930971 OMIM:102500 NCIT:C84745 DOID:2736 MESH:D030981 ICD9:756.59 MESH:C535663" -MONDO:0019046 "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems." "SCTID:192781003 Orphanet:68356 UMLS:CN228461 DOID:0060786 DOID:0050987 ICD10:E75.2 NCIT:C61253 ICD9:330.0 OMIMPS:312080 UMLS:C0023520 DOID:10579 GARD:0006895 MedDRA:10024381" +MONDO:0007057 "Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics." "Orphanet:955 UMLS:C0917715 MESH:C531695 GARD:0000508 MESH:C537586 ICD10CM:M89.5 SCTID:63122002 NCIT:C35545 OMIM:102400 SCTID:27201004 UMLS:C2930971 OMIM:102500 NCIT:C84745 DOID:2736 MESH:D030981 ICD9:756.59 MESH:C535663" +MONDO:0019046 "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems." "SCTID:192781003 Orphanet:68356 UMLS:CN228461 DOID:0060786 DOID:0050987 NCIT:C61253 ICD9:330.0 OMIMPS:312080 UMLS:C0023520 DOID:10579 GARD:0006895 MedDRA:10024381 ICD10CM:E75.2" MONDO:0007179 "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)." "MESH:D001327 NCIT:C2889 OMIM:615952 UMLS:C0004364 OMIM:109100 EFO:0005140 ICD9:279.49 ICD9:279.4 DOID:417 ICD9:720 OBI:1110054 OMIM:613551 SCTID:85828009" UBERON:0003580 MONDO:0000655 @@ -13480,12 +13477,12 @@ MONDO:0100475 "An instance of ichthyosis vulgaris in which the disease presentat UBERON:0035839 MONDO:0022607 "A Brenner tumor that involves the vagina." "GARD:0010006" UBERON:0011846 -MONDO:0016016 "Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome." "ICD10:Q86.8 UMLS:C2931737 Orphanet:1920 MESH:C538114 GARD:0002672" +MONDO:0016016 "Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome." "UMLS:C2931737 Orphanet:1920 MESH:C538114 ICD10CM:Q86.8 GARD:0002672" GO:0071396 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus." MONDO:0020287 "Orphanet:98719" MONDO:0024889 "A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants." "ICDO:9110/0 UMLS:C0334530 DOID:2616 NCIT:C4294" MONDO:0020021 "Orphanet:98043" -MONDO:0016513 "This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).*" "ICD10:D56.0 Orphanet:232288 UMLS:CN201534" +MONDO:0016513 "This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).*" "ICD10CM:D56.0 Orphanet:232288 UMLS:CN201534" MONDO:0015588 "Limbic encephalitis represents a group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy." "GARD:0008742 MESH:D020363 Orphanet:163892 SCTID:230192003 ICD9:323.9" MONDO:0044230 "OMIM:131460" http://identifiers.org/hgnc/84 @@ -13495,66 +13492,66 @@ CHEBI:13941 MONDO:0100436 "Any cataract in which the cause of the disease is a mutation in the CRYGC gene." "OMIM:604307 DOID:0110235" UBERON:0001183 MONDO:0018531 "A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma." "NCIT:C7927 UMLS:C0279000 ONCOTREE:HCCIHCH Orphanet:424936" -MONDO:0017735 "MedDRA:10010371 SCTID:18546004 Orphanet:3093 ICD10:Q23.0 ICD9:746.3" +MONDO:0017735 "MedDRA:10010371 SCTID:18546004 Orphanet:3093 ICD9:746.3" NCIT:C35461 MONDO:0019299 "UMLS:CN205933 Orphanet:79385" -MONDO:0012155 "Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction." "OMIM:608911 ICD9:748.0 MedDRA:10008587 ICD10:Q30.0 SCTID:204508009 Orphanet:137914 DOID:9574 MESH:D002754" +MONDO:0012155 "Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction." "OMIM:608911 ICD9:748.0 MedDRA:10008587 ICD10CM:Q30.0 SCTID:204508009 Orphanet:137914 DOID:9574 MESH:D002754" UBERON:0035838 UBERON:0011847 -MONDO:0018569 "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding." "Orphanet:435938 UMLS:CN237580 ICD10:Q87.8" -MONDO:0001853 "DOID:13999 ICD9:372.22 ICD10:H10.53 SCTID:10813004 UMLS:C0155150" +MONDO:0018569 "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding." "Orphanet:435938 UMLS:CN237580 ICD10CM:Q87.8" +MONDO:0001853 "DOID:13999 ICD9:372.22 SCTID:10813004 UMLS:C0155150" CHEBI:17891 "A molecular entity that can transfer (\"donate\") an electron, a pair of electrons, an atom or a group to another molecular entity." http://identifiers.org/hgnc/87 MONDO:0400005 "Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally)." MONDO:0004489 "A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy." "NCIT:C6278 DOID:8186 UMLS:C1333593" MONDO:0019294 "Orphanet:79380 UMLS:CN227617" -MONDO:0007496 "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." "OMIM:128235 SCTID:702323008 GARD:0009628 MESH:C538001 ICD10:G24.1 Orphanet:71517 UMLS:C1868681 DOID:0090056" +MONDO:0007496 "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." "OMIM:128235 SCTID:702323008 GARD:0009628 MESH:C538001 ICD10CM:G24.1 Orphanet:71517 UMLS:C1868681 DOID:0090056" MONDO:0013185 "Any leprosy in which the cause of the disease is a mutation in the TLR1 gene." "Orphanet:548 OMIM:613223" MONDO:0020280 "Orphanet:98712 UMLS:CN207083" FOODON:03400129 "Extract, concentrate or isolate derived from a food source through one or more refining steps (see *EXTRACT, CONCENTRATE OR ISOLATE OF PLANT OR ANIMAL*) and marketed as such. [FDA CFSAN 1995]"@en "http://www.langual.org/langual_thesaurus.asp?termid=A0129" -MONDO:0012362 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene." "MESH:C563690 Orphanet:154 UMLS:C1835928 ICD10:I42.0 DOID:0110439 OMIM:609909" -MONDO:0017239 "Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance." "ICD10:L81.8 OMIM:145250 UMLS:C1840392 Orphanet:280628" +MONDO:0012362 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene." "MESH:C563690 Orphanet:154 UMLS:C1835928 DOID:0110439 ICD10CM:I42.0 OMIM:609909" +MONDO:0017239 "Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance." "ICD10CM:L81.8 OMIM:145250 UMLS:C1840392 Orphanet:280628" NCBITaxon:1649845 "GC_ID:11" ENVO:01000343 "An altitudinal condition is an environmental condition in which ranges of factors such as temperature, humidity, soil composition, solar irradiation, and tree density vary with ranges in altitude." MONDO:0008779 "A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth." "EFO:0003857 MESH:D001176 NCIT:C84572 UMLS:C0003886" -MONDO:0016474 "An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs." "SCTID:80258006 Orphanet:231111 ICD10:M32.0 NCIT:C114354 MedDRA:10013706 DOID:0040093 UMLS:C0263591" +MONDO:0016474 "An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs." "SCTID:80258006 Orphanet:231111 NCIT:C114354 MedDRA:10013706 DOID:0040093 UMLS:C0263591" MONDO:0023880 "OMIMPS:193670" -MONDO:0016620 "A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy." "SCTID:88220006 OMIM:614441 Orphanet:2796 DOID:14283 OMIM:259100 Orphanet:248095 Orphanet:1525 MedDRA:10051686 OMIM:167100 OMIMPS:259100 UMLS:CN202658 MESH:D010004 NCIT:C85023 UMLS:C0029411 ICD10:M89.4 GARD:0007299" -MONDO:0017732 "Orphanet:309282 ICD10:E77.1" +MONDO:0016620 "A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy." "SCTID:88220006 OMIM:614441 Orphanet:2796 DOID:14283 OMIM:259100 Orphanet:248095 Orphanet:1525 MedDRA:10051686 ICD10CM:M89.4 OMIM:167100 OMIMPS:259100 UMLS:CN202658 MESH:D010004 NCIT:C85023 UMLS:C0029411 GARD:0007299" +MONDO:0017732 "Orphanet:309282 ICD10CM:E77.1" GO:1901137 "The chemical reactions and pathways resulting in the formation of carbohydrate derivative." MONDO:0016067 "This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder." "GARD:0001561 UMLS:C0432348 Orphanet:202 SCTID:278098005 ICD9:704.8" -MONDO:0001850 "ICD9:174.5 ICD10:C50.51 UMLS:C0153553 SCTID:188155002 DOID:13972" -MONDO:0006524 "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." "DOID:0060344 SCTID:4340003 DERMO:0002165 UMLS:C0263421 ICD10:L90.4 EFO:1000665 ICD9:701.8" +MONDO:0001850 "ICD9:174.5 UMLS:C0153553 SCTID:188155002 DOID:13972" +MONDO:0006524 "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis." "DOID:0060344 SCTID:4340003 DERMO:0002165 UMLS:C0263421 EFO:1000665 ICD9:701.8 ICD10CM:L90.4" MONDO:0021932 "Trypanosomiasis caused by infection by Trypanosoma brucei gambiense." "GARD:0008540 NCIT:C35084 UMLS:C0041232 ICD9:086.3 SCTID:75809006" HP:0005506 "A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate." "DOID:8552 SNOMEDCT_US:63364005 UMLS:C0023473 SNOMEDCT_US:92818009 MSH:D015464" GO:1902495 "A transmembrane protein complex which enables the transfer of a substance from one side of a membrane to the other." -MONDO:0019571 "Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." "SCTID:111388003 GARD:0001639 Orphanet:90348 UMLS:C0268350 ICD10:Q82.8 MESH:C562627 OMIM:614434 OMIM:616603 OMIM:123700 DOID:0070142" -MONDO:0016534 "Orphanet:238305 ICD10:E23.6" +MONDO:0019571 "Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement." "ICD10CM:Q82.8 SCTID:111388003 GARD:0001639 Orphanet:90348 UMLS:C0268350 MESH:C562627 OMIM:614434 OMIM:616603 OMIM:123700 DOID:0070142" +MONDO:0016534 "Orphanet:238305 ICD10CM:E23.6" MONDO:0022682 "GARD:0001179" -MONDO:0014097 "Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." "ICD10:Q43.8 SCTID:715201005 OMIM:300048 Orphanet:2301 OMIM:615237" +MONDO:0014097 "Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." "SCTID:715201005 ICD10CM:Q43.8 OMIM:300048 Orphanet:2301 OMIM:615237" MONDO:0020281 "Orphanet:98713 UMLS:CN207084" MONDO:0022037 "Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan." "UMLS:C0079746 MESH:D016400 GARD:0008219" -MONDO:0009236 "Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness." "ICD10:H35.5 SCTID:765191009 MESH:C562701 UMLS:C0271257 Orphanet:99179 OMIM:228990" -MONDO:0010711 "A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months." "UMLS:C1839463 Orphanet:2886 OMIM:311900 GARD:0010089 ICD10:Q87.8 DOID:0111780 SCTID:725911008 MESH:C536942" +MONDO:0009236 "Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness." "SCTID:765191009 MESH:C562701 ICD10CM:H35.5 UMLS:C0271257 Orphanet:99179 OMIM:228990" +MONDO:0010711 "A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months." "ICD10CM:Q87.8 UMLS:C1839463 Orphanet:2886 OMIM:311900 GARD:0010089 DOID:0111780 SCTID:725911008 MESH:C536942" MONDO:0006491 "A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia." "MESH:D007724 UMLS:C0022783 EFO:1000623 NCIT:C27723" MONDO:0015336 "Orphanet:139042 UMLS:CN199366" MONDO:0021240 "A neoplasm (disease) that involves the tongue." "EFO:0003871 NCIT:C3416 SCTID:126778001" -MONDO:0017733 "Orphanet:309288 GTR:AN0103811 UMLS:CN036949 GTR:AN0103810 ICD10:E77.1" -MONDO:0018858 "Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." "UMLS:CN205176 Orphanet:505 SCTID:718215008 ICD10:L66.1 GARD:0003195 UMLS:C0023645" +MONDO:0017733 "Orphanet:309288 GTR:AN0103811 UMLS:CN036949 ICD10CM:E77.1 GTR:AN0103810" +MONDO:0018858 "Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." "UMLS:CN205176 Orphanet:505 SCTID:718215008 ICD10CM:L66.1 GARD:0003195 UMLS:C0023645" MONDO:0001851 "UMLS:C0155229 ICD9:375.13 DOID:1399 SCTID:17093002" -MONDO:0016723 "Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis." "GARD:0008207 UMLS:C0917890 MedDRA:10035059 ICD10:D44.5 NCIT:C6966 HP:0030407 Orphanet:251912 SCTID:255045009 ICDO:9361/1 EFO:1000476 ONCOTREE:PINC" +MONDO:0016723 "Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis." "GARD:0008207 UMLS:C0917890 MedDRA:10035059 NCIT:C6966 ICD10CM:D44.5 HP:0030407 Orphanet:251912 SCTID:255045009 ICDO:9361/1 EFO:1000476 ONCOTREE:PINC" http://identifiers.org/hgnc/89 http://identifiers.org/hgnc/11042 -MONDO:0009841 "PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies." "Orphanet:2836 OMIM:260565 MESH:C536317 DOID:0080539 GARD:0004264 Orphanet:99807 ICD10:G31.8 UMLS:C1850055" +MONDO:0009841 "PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies." "Orphanet:2836 OMIM:260565 ICD10CM:G31.8 MESH:C536317 DOID:0080539 GARD:0004264 Orphanet:99807 UMLS:C1850055" MONDO:0016799 "UMLS:CN202054 Orphanet:254822" -MONDO:0014460 "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed." "ICD10:Q82.8 UMLS:C4014987 Orphanet:423454 OMIM:616029" +MONDO:0014460 "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed." "UMLS:C4014987 Orphanet:423454 ICD10CM:Q82.8 OMIM:616029" UBERON:0013149 MONDO:0019030 MONDO:0012840 "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene." "UMLS:C2677091 DOID:0110883 MESH:C567378 OMIM:612261" -MONDO:0016533 "ICD10:E85.0 Orphanet:238269 UMLS:CN201610" +MONDO:0016533 "Orphanet:238269 ICD10CM:E85.0 UMLS:CN201610" MONDO:0020282 "UMLS:CN207085 Orphanet:98714" CHR:9606-chr13q12 -MONDO:0017175 "Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." "SCTID:91954009 ICD10:G11.8 Orphanet:276241" +MONDO:0017175 "Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." "ICD10CM:G11.8 SCTID:91954009 Orphanet:276241" GO:0051154 "Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle cell differentiation." MONDO:0041996 "SCTID:51040009" MONDO:0015335 "Orphanet:139039 UMLS:CN199365" @@ -13562,42 +13559,42 @@ GO:2000181 "Any process that stops, prevents, or reduces the frequency, rate or MONDO:0014224 "Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior." "UMLS:C3809753 OMIM:615516 Orphanet:329195" GO:0015986 "The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis." MONDO:0003702 "A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma." "NCIT:C5356 DOID:5915" -MONDO:0017996 "UMLS:CN204202 Orphanet:329255" +MONDO:0017996 "UMLS:CN204202 OMIM:615057 Orphanet:329255" MONDO:0006980 "An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion)." "EFO:1001192 DOID:2640 ICDO:9090/0 MESH:D013330 NCIT:C7468 UMLS:C0038478" -MONDO:0017730 "ICD10:E75.2 Orphanet:309271" +MONDO:0017730 "ICD10CM:E75.2 Orphanet:309271" GO:2000835 "Any process that stops, prevents or reduces the frequency, rate or extent of androgen secretion." MONDO:0010897 "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23." "UMLS:C1838069 OMIM:600511 DOID:0070079" MONDO:0016798 "Orphanet:254818 UMLS:C3683791" MONDO:0043904 "A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." "MESH:D016774 SCTID:38573008" MONDO:0019295 -MONDO:0016083 "FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported." "MESH:C537065 GARD:0002346 UMLS:C2931411 ICD10:L60.8 Orphanet:2045" +MONDO:0016083 "FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported." "MESH:C537065 GARD:0002346 UMLS:C2931411 ICD10CM:L60.8 Orphanet:2045" MONDO:0002535 "A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance." "DOID:3177 NCIT:C4101 UMLS:C0334243 ICDO:8051/0" MONDO:0012237 "Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene." "Orphanet:607 UMLS:C1836472 MESH:C538398 OMIM:609273 DOID:0110935" CHEBI:84143 "A non-proteinogenic amino acid derivative resulting from reaction of D-phenylalanine at the amino group or the carboxy group, or from the replacement of any hydrogen of D-phenylalanine by a heteroatom." -MONDO:0008467 "Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987." "UMLS:C1866739 GARD:0004969 OMIM:183802 Orphanet:2437 MESH:C566662 ICD10:Q87.8" +MONDO:0008467 "Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987." "UMLS:C1866739 GARD:0004969 OMIM:183802 Orphanet:2437 MESH:C566662 ICD10CM:Q87.8" MONDO:0014494 "Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene." "OMIM:616106 Orphanet:247353 DOID:0111281" http://identifiers.org/hgnc/10942 MONDO:0006410 "A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent." "ICD9:621.31 UMLS:C0456483 NCIT:C35463 SCTID:198324001 EFO:1000525" -MONDO:0017731 "Orphanet:309279 ICD10:E77.1 ICD10:E77.8 GARD:0010670 ICD10:E77.9 ICD10:E77.0" +MONDO:0017731 "Orphanet:309279 ICD10CM:E77.0 GARD:0010670 ICD10CM:E77.1 ICD10CM:E77.9 ICD10CM:E77.8" MONDO:0015334 "UMLS:CN199364 Orphanet:139036" -MONDO:0019431 "Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system." "ICD10:I81 Orphanet:854 MedDRA:10036206" -MONDO:0010068 "A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation." "ICD10:Q77.7 SCTID:389161008 ICD9:756.9 NCIT:C129031 DOID:5684 MESH:C535786 Orphanet:93357 OMIM:271510 GARD:0004970" +MONDO:0019431 "Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system." "Orphanet:854 MedDRA:10036206" +MONDO:0010068 "A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation." "ICD10CM:Q77.7 SCTID:389161008 ICD9:756.9 NCIT:C129031 DOID:5684 MESH:C535786 Orphanet:93357 OMIM:271510 GARD:0004970" http://identifiers.org/hgnc/6441 MONDO:0033204 "OMIM:617577 DOID:0080266 Orphanet:244" GO:0016021 "The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane." -MONDO:0011028 "Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal." "DOID:0110280 GARD:0008573 SCTID:718177001 OMIM:601287 MESH:C535896 ICD10:G71.0 Orphanet:219" +MONDO:0011028 "Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal." "DOID:0110280 GARD:0008573 SCTID:718177001 OMIM:601287 ICD10CM:G71.0 MESH:C535896 Orphanet:219" UBERON:0009676 MONDO:0014236 "Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene." "OMIM:615539 Orphanet:2953 UMLS:C3809845" CHR:9606-chr13q14 MONDO:0011432 "MESH:C565797 UMLS:C1858538 OMIM:604314 Orphanet:293725" CL:1000466 "A chromaffin cell that is part of the right ovary." "FMA:74320" HP:0011514 "An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth." "UMLS:C4023320" -MONDO:0019893 "Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation)." "ICD10:Q93.5 Orphanet:96129" +MONDO:0019893 "Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation)." "Orphanet:96129 ICD10CM:Q93.5" MONDO:0027029 "HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors." "GARD:0009667" -MONDO:0018905 "Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common." "EFO:0000403 DOID:0050745 ICD10:C83.3 Orphanet:544 MedDRA:10012818 MESH:D016403 NCIT:C8851 ICDO:9680/3 ICD9:200.7 UMLS:C0079744 GARD:0003178" +MONDO:0018905 "Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common." "EFO:0000403 DOID:0050745 Orphanet:544 MedDRA:10012818 MESH:D016403 NCIT:C8851 ICDO:9680/3 ICD9:200.7 UMLS:C0079744 GARD:0003178" MONDO:0010234 -MONDO:0017092 "Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria." "ICD10:Q04.3 Orphanet:268943 UMLS:C4024960 SCTID:715905006" -MONDO:0001794 "Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects." "UMLS:C0030759 ICD9:132.2 SCTID:71011005 DOID:13760 NCIT:C35777 ICD10:B85.3" +MONDO:0017092 "Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria." "ICD10CM:Q04.3 Orphanet:268943 UMLS:C4024960 SCTID:715905006" +MONDO:0001794 "Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects." "UMLS:C0030759 ICD10CM:B85.3 ICD9:132.2 SCTID:71011005 DOID:13760 NCIT:C35777" GO:0001696 "The regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion." MONDO:0004152 "A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years." "UMLS:C1333037 NCIT:C37201 DOID:7230" MONDO:0000646 "A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma." "EFO:1000116 DOID:0060112 SCTID:92260003 NCIT:C2895" @@ -13606,8 +13603,8 @@ http://identifiers.org/hgnc/4035 MONDO:0005553 http://identifiers.org/hgnc/6440 http://identifiers.org/hgnc/18337 -MONDO:0016984 "Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus." "NCIT:C7583 EFO:1000396 Orphanet:263425 ICD9:224.0 UMLS:C0027961 MESH:D009507 SCTID:414929001 MedDRA:10051713 ICD10:D22.3" -MONDO:0000705 "A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated." "NCIT:C35286 MedDRA:10009657 DOID:0060185 EFO:0009130 ICD10:A04.7 MESH:D004761 SCTID:423590009" +MONDO:0016984 "Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus." "NCIT:C7583 EFO:1000396 Orphanet:263425 ICD9:224.0 UMLS:C0027961 MESH:D009507 SCTID:414929001 MedDRA:10051713 ICD10CM:D22.3" +MONDO:0000705 "A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated." "NCIT:C35286 MedDRA:10009657 DOID:0060185 EFO:0009130 MESH:D004761 SCTID:423590009" MONDO:0010718 "Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993." "MESH:C535281 GARD:0004633 OMIM:312190 Orphanet:3016 UMLS:C1839410" UBERON:0006916 MONDO:0019039 "Orphanet:68334 UMLS:CN227563" @@ -13616,7 +13613,7 @@ MONDO:0004301 "A conventional osteosarcoma characterized by the presence of spin ECTO:7000122 "A exposure event involving the interaction of an exposure receptor to sea water." MONDO:0014840 "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene." "OMIM:616941 UMLS:C4310786" MONDO:0003353 "An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells." "DOID:5261 UMLS:C1332848 NCIT:C5364" -MONDO:0018907 "A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" "ICD10:D44.4 ICD9:237.0 ICDO:9350/1 EFO:1000209 DOID:3840 MedDRA:10011318 MESH:D003397 GARD:0010486 SCTID:189179009 Orphanet:54595 UMLS:C0010276 NCIT:C2964" +MONDO:0018907 "A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" "ICD9:237.0 ICDO:9350/1 EFO:1000209 DOID:3840 MedDRA:10011318 MESH:D003397 GARD:0010486 SCTID:189179009 Orphanet:54595 UMLS:C0010276 NCIT:C2964" MONDO:0010233 "ICD9:742.4 SCTID:448227009 Orphanet:98892 GARD:0007371 Orphanet:2149 OMIM:300049" MONDO:0002853 "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum." "NCIT:C5627 DOID:4053 UMLS:C1335687" MONDO:0012896 "DOID:0111289 OMIM:612410" @@ -13638,16 +13635,16 @@ MONDO:0010236 "OMIM:300062 Orphanet:777 MESH:C537454 GARD:0008557" GO:2000259 "Any process that activates or increases the frequency, rate or extent of protein activation cascade." MONDO:0006275 "A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." "MESH:D018286 SCTID:254631008 EFO:1000332 UMLS:C0345960 ONCOTREE:GCLC DOID:5583 NCIT:C4452 UMLS:C0206703 ICD9:162.9" CL:0000893 "An immature T cell located in the thymus." "CALOHA:TS-1042 BTO:0001372 XAO:0003159 FMA:72202" -MONDO:0009721 "Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother." "ICD10:Q87.8 MESH:C538342 UMLS:C1850626 Orphanet:2663 GARD:0003929 OMIM:255990 SCTID:716170005" +MONDO:0009721 "Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother." "MESH:C538342 UMLS:C1850626 Orphanet:2663 GARD:0003929 OMIM:255990 ICD10CM:Q87.8 SCTID:716170005" FOODON:03420236 "Extract, concentrate or isolate high in protein; may contain amino acids, polypeptides and enzymes."@en UBERON:0007278 MONDO:0007952 "GARD:0006991 OMIM:155000 MESH:C563599 UMLS:C1835088" -MONDO:0011464 "Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." "ICD10:G11.8 GARD:0010475 OMIM:604432 UMLS:C1858351 MESH:C565772 Orphanet:98767 UMLS:C4304886 SCTID:719207000 DOID:0050961" +MONDO:0011464 "Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs." "GARD:0010475 OMIM:604432 UMLS:C1858351 MESH:C565772 Orphanet:98767 UMLS:C4304886 SCTID:719207000 DOID:0050961 ICD10CM:G11.8" FOODON:03460180 "http://www.langual.org/langual_thesaurus.asp?termid=H0180" -MONDO:0014195 "Orphanet:369970 UMLS:C3809567 ICD10:Q15.8 OMIM:615458" +MONDO:0014195 "Orphanet:369970 UMLS:C3809567 OMIM:615458 ICD10CM:Q15.8" MONDO:0003885 "A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum." "NCIT:C5678 UMLS:C1333114 DOID:6460" CHEBI:50313 "Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families." -MONDO:0020542 "Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional." "SCTID:237795006 ICD10:C56 UMLS:C0342515 Orphanet:99916 ICD9:239.5 UMLS:CN207443" +MONDO:0020542 "Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional." "SCTID:237795006 UMLS:C0342515 ICD10CM:C56 Orphanet:99916 ICD9:239.5 UMLS:CN207443" MONDO:0013830 "UMLS:C3553302 OMIM:614622" MONDO:0004959 "A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance." "ICD9:238.6 MESH:D010265 Orphanet:98282 DOID:6536 EFO:0000200 NCIT:C4665 MESH:D054219 UMLS:C1959632 SCTID:415111003" MONDO:0011433 "OMIM:604315 MESH:C565796 UMLS:C1858537" @@ -13655,23 +13652,23 @@ CHEBI:48377 "Compounds derived from oxoacids RkE(=O)l(OH)m (l =/= 0) by replacin GO:0051956 "Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." MONDO:0004107 "A leukemia (disease) that involves the spleen." "NCIT:C7296 DOID:710 UMLS:C1336065" UBERON:0006913 -MONDO:0007062 "Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." "Orphanet:973 GARD:0000377 ICD10:Q71.3 OMIM:102650 Orphanet:294990 MESH:C562417" +MONDO:0007062 "Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." "Orphanet:973 GARD:0000377 OMIM:102650 Orphanet:294990 ICD10CM:Q71.3 MESH:C562417" MONDO:0015063 "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum." "Orphanet:100076 UMLS:CN197356 NCIT:C135080" -MONDO:0020076 "A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)" "GARD:0009319 ICDO:9960/3 UMLS:C1292778 EFO:0002428 NCIT:C4345 SCTID:425333006 DOID:2226 Orphanet:98274 ICD9:238.79 MedDRA:10028576 OMIM:131440 ONCOTREE:MPN NCIT:C103126 ICD10:D47.1 EFO:0004251 ICDO:9975/1" +MONDO:0020076 "A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)" "GARD:0009319 ICDO:9960/3 UMLS:C1292778 EFO:0002428 NCIT:C4345 SCTID:425333006 DOID:2226 Orphanet:98274 ICD9:238.79 MedDRA:10028576 OMIM:131440 ONCOTREE:MPN NCIT:C103126 EFO:0004251 ICDO:9975/1" MONDO:0012898 "OMIM:612417 UMLS:C2676275 Orphanet:2073" -MONDO:0020380 "Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy." "OMIMPS:164400 UMLS:CN227858 SCTID:129609000 GARD:0004346 ICD9:334.3 DOID:1441 ICD10:G11.8 Orphanet:99" +MONDO:0020380 "Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy." "OMIMPS:164400 ICD10CM:G11.8 UMLS:CN227858 SCTID:129609000 GARD:0004346 ICD9:334.3 DOID:1441 Orphanet:99" ENVO:01000804 "An object which is composed of one or more gravitationally bound structures that are associated with a position in space." MONDO:0012632 GO:0050884 "Any process in which an organism voluntarily modulates its posture, the alignment of its anatomical parts." -MONDO:0006782 "Blood-filled uterus." "ICD10:N85.7 DOID:9958 EFO:1000962 ICD9:621.4 MESH:D006409 SCTID:38280009" -MONDO:0010235 "GARD:0003506 ICD10:F71.1 DOID:0060827 ICD9:758.89 SCTID:702356009 OMIM:300055 Orphanet:3077" +MONDO:0006782 "Blood-filled uterus." "DOID:9958 EFO:1000962 ICD9:621.4 MESH:D006409 ICD10CM:N85.7 SCTID:38280009" +MONDO:0010235 "GARD:0003506 DOID:0060827 ICD9:758.89 SCTID:702356009 OMIM:300055 ICD10CM:F71.1 Orphanet:3077" HP:0000022 "An abnormality of the male internal genitalia." "UMLS:C4025899" NCBITaxon:10319 "GC_ID:1" -MONDO:0009582 "Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." "SCTID:40291001 ICD9:759.89 OMIM:249600 MESH:C537444 Orphanet:2557 UMLS:C0265249 GARD:0003524 ICD10:Q87.8" -MONDO:0001859 "ICD9:733.7 ICD10:M89.00 ICD10:M89.0 DOID:14022" -MONDO:0019607 "Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes." "Orphanet:91140 ICD10:M08.8" +MONDO:0009582 "Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." "SCTID:40291001 ICD9:759.89 OMIM:249600 MESH:C537444 Orphanet:2557 UMLS:C0265249 GARD:0003524 ICD10CM:Q87.8" +MONDO:0001859 "ICD9:733.7 ICD10CM:M89.0 DOID:14022" +MONDO:0019607 "Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes." "ICD10CM:M08.8 Orphanet:91140" MONDO:0033200 "Orphanet:90636 OMIM:617654 DOID:0080263" -MONDO:0014196 "UMLS:C1845146 MESH:C564484 OMIM:615465 SCTID:766032007 ICD10:Q87.8 Orphanet:2117" +MONDO:0014196 "UMLS:C1845146 MESH:C564484 ICD10CM:Q87.8 OMIM:615465 SCTID:766032007 Orphanet:2117" HP:0002835 "Inspiration of a foreign object into the airway." "UMLS:C0700198 SNOMEDCT_US:68052005 SNOMEDCT_US:413585005 UMLS:C2712334" UBERON:0004518 MONDO:0013831 "OMIM:614623 UMLS:C3553306" @@ -13680,8 +13677,8 @@ MONDO:0012633 MONDO:0012899 "MESH:C567317 UMLS:C2676272 OMIM:612421" GO:0030856 "Any process that modulates the frequency, rate or extent of epithelial cell differentiation." MONDO:0030707 "NCIT:C35406 UMLS:C0341769" -MONDO:0010586 "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive." "NCIT:C141423 OMIM:305200 UMLS:C0268341 Orphanet:75497 SCTID:67202007 MESH:C536197 ICD10:Q79.6" -MONDO:0019857 "Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent." "Orphanet:95715 SCTID:717333002 ICD10:P72.2 UMLS:C4273914" +MONDO:0010586 "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive." "NCIT:C141423 OMIM:305200 ICD10CM:Q79.6 UMLS:C0268341 Orphanet:75497 SCTID:67202007 MESH:C536197" +MONDO:0019857 "Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent." "Orphanet:95715 SCTID:717333002 UMLS:C4273914 ICD10CM:P72.2" MONDO:0003156 http://identifiers.org/hgnc/24247 http://identifiers.org/hgnc/26648 @@ -13689,16 +13686,16 @@ MONDO:0011435 "OMIM:604317 DOID:0070293 UMLS:C1858535 MESH:C565794" MONDO:0013832 "OMIM:614628 UMLS:C3553307" MONDO:0100305 "Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene." MONDO:0005383 "An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia." "UMLS:CN240645 OMIM:609985 OMIM:607853 EFO:0004262 DOID:594 MESH:D016584 OMIM:167870 NCIT:C34890 ICD9:300.01 SCTID:371631005" -MONDO:0012181 "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1." "MESH:C563807 Orphanet:101007 UMLS:C1836899 OMIM:609041 ICD10:G11.4 DOID:0110778" +MONDO:0012181 "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1." "MESH:C563807 Orphanet:101007 UMLS:C1836899 OMIM:609041 ICD10CM:G11.4 DOID:0110778" CL:0000945 "A lymphocyte of B lineage with the commitment to express an immunoglobulin complex." GO:0006357 "Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II." MONDO:0018505 "OBSOLETE. Any of the forms of small intestine neoplasm that have a rare incidence." "UMLS:CN237510 Orphanet:423793" MONDO:0014407 "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene." "UMLS:C4014738 OMIM:615937 Orphanet:83473" http://identifiers.org/hgnc/29144 MONDO:0012634 "MESH:C566988 UMLS:C1970027 OMIM:611174 Orphanet:314555" -MONDO:0001100 "Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain." "ICD10:N62 NCIT:C3125 ICD9:611.1 DOID:10688 GARD:0009450 SCTID:372281005" +MONDO:0001100 "Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain." "NCIT:C3125 ICD9:611.1 DOID:10688 ICD10CM:N62 GARD:0009450 SCTID:372281005" GO:0002704 "Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte mediated immunity." -MONDO:0012527 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene." "Orphanet:98993 ICD10:Q12.0 DOID:0110249 MESH:C535344 OMIM:610623 GARD:0010228 Orphanet:91492" +MONDO:0012527 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene." "Orphanet:98993 DOID:0110249 MESH:C535344 OMIM:610623 GARD:0010228 Orphanet:91492" MONDO:0003728 "A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "UMLS:C1332630 DOID:6001 NCIT:C5185" CL:1000330 "A serous secreting cell that is part of the epithelium of trachea." "FMA:263078" ENVO:01001620 "A object which is composed primarily of water-based snow and ice." @@ -13706,22 +13703,22 @@ MONDO:0033202 "DOID:0111639 UMLS:CN248519 OMIM:618013" UBERON:0009678 NCBITaxon:190765 "PMID:15264635 GC_ID:1" UBERON:0006919 -MONDO:0001617 "A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event." "GARD:0008172 HP:0010534 NCIT:C85198 DOID:13027 MESH:D020236 ICD9:437.7 ICD10:G45.4" +MONDO:0001617 "A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event." "GARD:0008172 HP:0010534 NCIT:C85198 DOID:13027 MESH:D020236 ICD9:437.7 ICD10CM:G45.4" MONDO:0002670 "A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla" "NCIT:C6650 UMLS:C1332243 DOID:3502 EFO:0008490" MONDO:0014288 "Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene." "DOID:0110990 Orphanet:475 UMLS:C3810212 Orphanet:397715 OMIM:615636" MONDO:0013833 "OMIM:614629 UMLS:C3553308" -MONDO:0012901 "An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome." "Orphanet:749 OMIM:612423 ICD9:286.9 ICD10:D68.8 MESH:C562725 GARD:0004477" -MONDO:0007256 "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." "NCIT:C3099 NCIT:C7956 Orphanet:88673 Orphanet:449 MESH:D006528 NCIT:C7927 ICD10:C22.0 DOID:684 OMIM:114550 ONCOTREE:HCC UMLS:C0206624 UMLS:C0345904 EFO:0000182 ICDO:8170/3 DOID:686 MedDRA:10049010 UMLS:C0279607" +MONDO:0012901 "An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome." "Orphanet:749 ICD10CM:D68.8 OMIM:612423 ICD9:286.9 MESH:C562725 GARD:0004477" +MONDO:0007256 "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." "NCIT:C3099 NCIT:C7956 Orphanet:88673 Orphanet:449 MESH:D006528 NCIT:C7927 DOID:684 OMIM:114550 ONCOTREE:HCC UMLS:C0206624 UMLS:C0345904 EFO:0000182 ICDO:8170/3 DOID:686 MedDRA:10049010 UMLS:C0279607" MONDO:0019038 "UMLS:CN205523 Orphanet:68329" MONDO:0015004 "Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene." "OMIM:617284 Orphanet:589618 UMLS:C4310633" -MONDO:0007215 "Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges." "OMIM:607004 OMIM:616849 UMLS:C1862151 GARD:0000978 Orphanet:93388 MESH:C537088 ICD10:Q73.8 DOID:0110964 SCTID:715720006 OMIM:615072" -MONDO:0017738 "ICD10:E74.0 UMLS:CN203642 Orphanet:309337" -MONDO:0013776 "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated." "DOID:0050944 ICD10:G11.4 UMLS:C3280977 OMIM:614487 Orphanet:313772" +MONDO:0007215 "Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges." "OMIM:607004 OMIM:616849 UMLS:C1862151 GARD:0000978 Orphanet:93388 MESH:C537088 ICD10CM:Q73.8 DOID:0110964 OMIM:112500 SCTID:715720006 OMIM:615072" +MONDO:0017738 "UMLS:CN203642 Orphanet:309337 ICD10CM:E74.0" +MONDO:0013776 "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated." "DOID:0050944 UMLS:C3280977 OMIM:614487 Orphanet:313772 ICD10CM:G11.4" MONDO:0001856 "DOID:14006 SCTID:70405009 ICD9:442.83 UMLS:C0155747" -MONDO:0012724 "An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month." "ICD10:E85.0 OMIM:611762 DOID:0090063 Orphanet:247868 MESH:C567090 NCIT:C119043 UMLS:C3897034 UMLS:C2673198" +MONDO:0012724 "An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month." "OMIM:611762 DOID:0090063 Orphanet:247868 MESH:C567090 ICD10CM:E85.0 NCIT:C119043 UMLS:C3897034 UMLS:C2673198" CL:0000956 "A pre-B-I cell is a precursor B cell that expresses CD34 and surrogate immunoglobulin light chain (VpreB , Lambda 5 (mouse)/14.1 (human)) on the cell surface, and TdT, Rag1,and Rag2 intracellularly. Cell type carries a D-JH DNA rearrangement, and lacks expression of immunglobulin heavy chain protein." MONDO:0001552 "A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties." "HP:0002442 NCIT:C97165 MESH:D060705 DOID:12568 ICD9:315.1 SCTID:47916000" -MONDO:0005964 "An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus." "NCIT:C35031 MESH:D015524 EFO:0007489 SCTID:13266007 UMLS:C0037886 DOID:10794 ICD10:J32.3" +MONDO:0005964 "An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus." "ICD10CM:J32.3 NCIT:C35031 MESH:D015524 EFO:0007489 SCTID:13266007 UMLS:C0037886 DOID:10794" MONDO:0013431 "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene." "DOID:0080515 UMLS:C3151120 Orphanet:2554 OMIM:613804" UBERON:0013140 MONDO:0010266 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene." "UMLS:C1846174 MESH:C564566 OMIM:300210" @@ -13732,9 +13729,9 @@ GO:0008544 "The process whose specific outcome is the progression of the epiderm http://identifiers.org/hgnc/24249 MONDO:0011437 "DOID:0070291 OMIM:604321 MESH:C565792 UMLS:C1858516" UBERON:0009679 -MONDO:0009241 "Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." "ICD10:Q87.8 SCTID:720957007 GARD:0000064 MESH:C537270 OMIM:229120 UMLS:C0795944 Orphanet:3219" +MONDO:0009241 "Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." "SCTID:720957007 ICD10CM:Q87.8 GARD:0000064 MESH:C537270 OMIM:229120 UMLS:C0795944 Orphanet:3219" MONDO:0017739 "Orphanet:309340 UMLS:CN227186" -MONDO:0005975 "Inflammation of the middle ear with purulent discharge." "ICD9:382 ICD10:H66 DOID:11506 ICD10:H66.40 SCTID:38394007 MESH:D010035 SCTID:39288006 ICD10:H66.4 ICD9:382.4 EFO:0007503 UMLS:C0029888" +MONDO:0005975 "Inflammation of the middle ear with purulent discharge." "ICD9:382 DOID:11506 SCTID:38394007 MESH:D010035 SCTID:39288006 ICD9:382.4 EFO:0007503 UMLS:C0029888" MONDO:0000468 "A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)" "NCIT:C50501 DOID:0050823 UMLS:C0151517 SCTID:27885002 ICD9:426.0" MONDO:0006750 MONDO:0005307 "Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." "MESH:D003286 EFO:0003899" @@ -13745,25 +13742,25 @@ UBERON:0005711 NCBITaxon:27458 "GC_ID:1" UBERON:0007273 UBERON:0013151 -MONDO:0012247 "Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." "MESH:C537204 OMIM:609307 UMLS:C4304846 UMLS:C1836383 DOID:0050976 GARD:0009963 SCTID:719252002 ICD10:G11.8 Orphanet:98764" -MONDO:0004724 "A malignant neoplasm involving the submandibular gland." "SCTID:363380002 DOID:9173 ICD9:142.1 UMLS:C0153360 ICD10:C08.0 NCIT:C8396" +MONDO:0012247 "Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." "MESH:C537204 OMIM:609307 UMLS:C4304846 UMLS:C1836383 DOID:0050976 ICD10CM:G11.8 GARD:0009963 SCTID:719252002 Orphanet:98764" +MONDO:0004724 "A malignant neoplasm involving the submandibular gland." "SCTID:363380002 DOID:9173 ICD9:142.1 UMLS:C0153360 NCIT:C8396" GO:0015833 "The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." UBERON:0003316 UBERON:0002119 MONDO:0007945 "UMLS:C1835134 OMIM:154570 MESH:C563601" -MONDO:0019963 "A neuroendocrine neoplasm that involves the bronchus." "UMLS:CN206886 Orphanet:97287 ICD10:D38.1" -MONDO:0015942 "Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss." "ICD9:759.89 OMIMPS:305620 OMIM:305620 ICD10:Q78.5 SCTID:62803002 GARD:0000826 Orphanet:1826 MESH:C538064 OMIM:617137 DOID:0111785" +MONDO:0019963 "A neuroendocrine neoplasm that involves the bronchus." "ICD10CM:D38.1 UMLS:CN206886 Orphanet:97287" +MONDO:0015942 "Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss." "ICD9:759.89 ICD10CM:Q78.5 OMIMPS:305620 OMIM:305620 SCTID:62803002 GARD:0000826 Orphanet:1826 MESH:C538064 OMIM:617137 DOID:0111785" HP:0000031 "The presence of inflammation of the epididymis." "UMLS:C0014534 SNOMEDCT_US:31070006 MSH:D004823" UBERON:0006075 -MONDO:0009221 "Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal." "MedDRA:10068448 Orphanet:2019 MESH:C537918 GARD:0002286 UMLS:C1856790 OMIM:228200 ICD10:Q74.8" -MONDO:0008357 "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait." "OMIM:179250 MESH:C536262 Orphanet:2252 GARD:0004626 ICD10:Q87.2 SCTID:716092007" +MONDO:0009221 "Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal." "MedDRA:10068448 Orphanet:2019 MESH:C537918 GARD:0002286 UMLS:C1856790 ICD10CM:Q74.8 OMIM:228200" +MONDO:0008357 "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait." "ICD10CM:Q87.2 OMIM:179250 MESH:C536262 Orphanet:2252 GARD:0004626 SCTID:716092007" UBERON:0002118 UBERON:0004779 -MONDO:0008312 "Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion)." "OMIM:176700 Orphanet:2964 ICD10:K07.1 GARD:0010319 UMLS:CN203311 MESH:D008313" +MONDO:0008312 "Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion)." "OMIM:176700 Orphanet:2964 GARD:0010319 UMLS:CN203311 MESH:D008313" http://identifiers.org/hgnc/23056 MONDO:0003806 "A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course." "UMLS:C1336751 ONCOTREE:HTAT EFO:1000588 ICDO:8336/0 NCIT:C6846 DOID:6203" CL:0000067 "An epithelial cell that has a cilia." "FMA:70605" -MONDO:0012128 "Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene." "GARD:0007795 OMIM:608808 Orphanet:860 DOID:0060771 ICD10:Q20.3 MESH:C563853 UMLS:C1837341" +MONDO:0012128 "Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene." "GARD:0007795 OMIM:608808 DOID:0060771 Orphanet:860 MESH:C563853 UMLS:C1837341" UBERON:0003315 GO:0002757 "The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to activation or perpetuation of an immune response." MONDO:0006039 "A viral or bacterial infectious process affecting the large intestine." "UMLS:C0277524 NCIT:C78359 SCTID:39341005 EFO:1000035" @@ -13773,11 +13770,11 @@ UBERON:0005712 GO:2001258 "Any process that stops, prevents or reduces the frequency, rate or extent of cation channel activity." CL:0002036 "A hematopoietic progenitor that has some limited self-renewal capability. Cells are lin-negative, Kit-positive, CD34-positive, and Slamf1-positive." MONDO:0400000 "The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity." -MONDO:0014685 "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene." "ICD10:G40.3 Orphanet:457265 UMLS:C4225289 OMIM:616540 DOID:0111450" +MONDO:0014685 "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene." "ICD10CM:G40.3 Orphanet:457265 UMLS:C4225289 OMIM:616540 DOID:0111450" UBERON:0006074 ENVO:01000283 "A layer which is part of a lake." MONDO:0024228 "A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash." "SCTID:47317002 DOID:0070320" -MONDO:0010491 "SCTID:768472004 Orphanet:300373 ICD10:E22.0 UMLS:CN237731 OMIM:300942 Orphanet:448372 UMLS:C3891556" +MONDO:0010491 "SCTID:768472004 Orphanet:300373 UMLS:CN237731 ICD10CM:E22.0 OMIM:300942 Orphanet:448372 UMLS:C3891556" MONDO:0000968 "A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain." "NCIT:C5101 DOID:10194 UMLS:C1335744" http://identifiers.org/hgnc/17397 MONDO:0021279 "A mucoepidermoid carcinoma that involves the submandibular gland." "UMLS:C1336524 NCIT:C5939 SCTID:423424005" @@ -13785,10 +13782,10 @@ ENVO:00002297 "OBSOLETE A material entity which determines an environmental syst UBERON:0007272 MONDO:0005269 "A disease involving the carotid artery segment." "SCTID:371160000 ICD9:447.9 UMLS:C0007273 NCIT:C84476 EFO:0003781 MESH:D002340 DOID:3407" CHEBI:33362 -MONDO:0018043 "Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive." "MESH:C536514 ICD10:Q87.8 UMLS:C2931225 GARD:0005175 Orphanet:3316 SCTID:716740009" +MONDO:0018043 "Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive." "MESH:C536514 ICD10CM:Q87.8 UMLS:C2931225 GARD:0005175 Orphanet:3316 SCTID:716740009" MONDO:0009871 "Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents." "Orphanet:2891 GARD:0004362 UMLS:C1849811 OMIM:261990 MESH:C537398" UBERON:0005979 -MONDO:0011692 "Orphanet:1980 UMLS:C1847731 MESH:C537657 OMIM:606656" +MONDO:0011692 CL:0002431 "A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD8 co-receptor." http://identifiers.org/hgnc/15836 UBERON:0006073 @@ -13811,18 +13808,18 @@ UBERON:0006072 FOODON:00001293 MONDO:0007948 "UMLS:C0268365 OMIM:154750 GARD:0003387 MESH:C531742" ECTO:7000008 "A exposure event involving the interaction of an exposure receptor to clay." -MONDO:0013449 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene." "DOID:0110333 GARD:0010880 UMLS:C3151192 OMIM:613829 ICD10:H35.5 Orphanet:65" +MONDO:0013449 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene." "DOID:0110333 GARD:0010880 UMLS:C3151192 OMIM:613829 Orphanet:65" http://identifiers.org/hgnc/3942 MONDO:0004309 "The occurrence of several sarcomas in different anatomic locations." "UMLS:C0334451 DOID:7615 NCIT:C4243 ICDO:8800/9" -MONDO:0010840 "A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated." "OMIM:600176 UMLS:C1838491 GARD:0000409 Orphanet:2798 SCTID:763861000 MESH:C538091 ICD10:G40.4" +MONDO:0010840 "A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated." "OMIM:600176 UMLS:C1838491 GARD:0000409 Orphanet:2798 ICD10CM:G40.4 SCTID:763861000 MESH:C538091" UBERON:0004516 ENVO:00010505 "Airborne solid particles (also called dust or particulate matter (PM)) or liquid droplets." MONDO:0021950 "Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions." "MESH:C538274 GARD:0009461 UMLS:C0878654" UBERON:0003318 -MONDO:0004681 "A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect." "ICD10:F81.9 SCTID:1855002 NCIT:C89334 MESH:D007859 UMLS:CN229495 DOID:8927 ICD9:315.2" +MONDO:0004681 "A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect." "SCTID:1855002 NCIT:C89334 MESH:D007859 UMLS:CN229495 DOID:8927 ICD9:315.2" GO:0002688 "Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis." UBERON:0007270 -MONDO:0019456 "An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia." "Orphanet:86845 ICDO:9895/3 SCTID:445448008 ICD10:C92.8 NCIT:C9289 UMLS:C1292773 GARD:0012761 OMIM:601626" +MONDO:0019456 "An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia." "Orphanet:86845 ICDO:9895/3 SCTID:445448008 NCIT:C9289 UMLS:C1292773 GARD:0012761 OMIM:601626" http://identifiers.org/hgnc/14637 http://identifiers.org/hgnc/4042 UBERON:0009672 @@ -13842,10 +13839,10 @@ MONDO:0004348 "DOID:7736 ICD9:362.15 HP:0007763 UMLS:C0154835 SCTID:84884003" MONDO:0009333 "Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure." "GARD:0005430 Orphanet:1655 UMLS:C1856159 OMIM:235255 MESH:C536478" http://identifiers.org/hgnc/25455 MONDO:0009245 -MONDO:0005489 "A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." "OMIM:600202 SCTID:52824009 OMIM:606616 EFO:0005424 ICD10:F81.0 OMIM:608995 OMIM:604254 OMIM:606896 DOID:4428 NCIT:C96410 OMIM:127700 HP:0010522 OMIM:300509" -MONDO:0014439 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene." "OMIM:615988 UMLS:C1859569 GARD:0010210 ICD10:Q87.89 DOID:0110133 MESH:C565920" +MONDO:0005489 "A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." "OMIM:600202 SCTID:52824009 OMIM:606616 EFO:0005424 OMIM:608995 OMIM:604254 OMIM:606896 DOID:4428 NCIT:C96410 OMIM:127700 HP:0010522 OMIM:300509" +MONDO:0014439 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene." "OMIM:615988 UMLS:C1859569 GARD:0010210 DOID:0110133 MESH:C565920" CHEBI:68452 "Any monocyclic heteroarene consisting of a five-membered ring containing nitrogen. Azoles can also contain one or more other non-carbon atoms, such as nitrogen, sulfur or oxygen." -MONDO:0005066 "A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process." "SCTID:75934005 DOID:0014667 MESH:D008659 UMLS:C0025517 ICD10:E88.9 NCIT:C3235 ICD9:277.9 EFO:0000589 ICD10:E70.E90 ICD9:277.8" +MONDO:0005066 "A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process." "SCTID:75934005 ICD10CM:E00-E89 DOID:0014667 MESH:D008659 UMLS:C0025517 ICD10CM:P70-P74 NCIT:C3235 ICD10CM:E70-E90 ICD9:277.9 EFO:0000589 ICD9:277.8 ICD10CM:E70-E88" HP:0012719 "Abnormal functionality of the gastrointestinal tract." "UMLS:C4022755" UBERON:0003577 UBERON:0007010 @@ -13853,29 +13850,28 @@ http://identifiers.org/hgnc/2745 MONDO:0011693 "OMIM:606657" MONDO:0007942 "OMIM:154370" NCBITaxon:1980442 "GC_ID:1" -MONDO:0001246 "A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus." "Orphanet:102023 UMLS:C0041471 GARD:0007833 ICD10:A75 DOID:11256 SCTID:240613006 ICD9:080 NCIT:C84689 ICD10:A75.1 ICD9:081.9 UMLS:C0041472 ICD9:081.0 ICD10:A75.9 ICD10:A75.0 ICD10:A75.3 ICD10:A75.2" +MONDO:0001246 "A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus." "Orphanet:102023 UMLS:C0041471 GARD:0007833 DOID:11256 ICD10CM:A75.2 SCTID:240613006 ICD10CM:A75.3 ICD9:080 NCIT:C84689 ICD10CM:A75.0 ICD9:081.9 UMLS:C0041472 ICD10CM:A75.1 ICD9:081.0 ICD10CM:A75.9" CHR:9606-chr5q35 http://identifiers.org/hgnc/6698 GO:0042304 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils." MONDO:0004334 "A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome." "EFO:1000398 GARD:0004002 NCIT:C45837 DOID:7698 UMLS:C1334977 Orphanet:506075 ICDO:8150/3 MESH:C536126" http://identifiers.org/hgnc/7631 -MONDO:0013991 "Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia." "UMLS:C3554224 OMIM:614962 DOID:0111334 GARD:0013015 Orphanet:66628 ICD10:E66.8" -MONDO:0001494 "OBSOLETE. A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing." "ICD10:F65.1 SCTID:472981000 NCIT:C94359 DOID:1233 ICD10:F64.1 UMLS:C0040774 ICD9:302.3 MESH:D014190" +MONDO:0013991 "Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia." "UMLS:C3554224 OMIM:614962 DOID:0111334 GARD:0013015 Orphanet:66628 ICD10CM:E66.8" +MONDO:0001494 "OBSOLETE. A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing." "SCTID:472981000 NCIT:C94359 DOID:1233 UMLS:C0040774 ICD9:302.3 MESH:D014190" UBERON:0002113 GO:0061308 "The process aimed at the progression of a cardiac neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell that contributes to the development of the heart." -MONDO:0019480 "A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)" "SCTID:724649000 DOID:7146 Orphanet:86897 ICD10:C96.4 EFO:0007336 MESH:D054752 ICDO:9756/3 GARD:0010491 NCIT:C6921 UMLS:C1260327 ONCOTREE:LCS" +MONDO:0019480 "A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)" "SCTID:724649000 DOID:7146 Orphanet:86897 EFO:0007336 MESH:D054752 ICDO:9756/3 GARD:0010491 NCIT:C6921 UMLS:C1260327 ONCOTREE:LCS ICD10CM:C96.4" MONDO:0008041 "OMIM:159600 MESH:C563550 UMLS:C1834581" MONDO:0030966 "OMIM:619194" -MONDO:0004347 MONDO:0021074 "A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia." "MESH:D011230 NCIT:C3341" MONDO:0009244 "OMIM:229250" -MONDO:0005724 "An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004" "ICD10:B45.1 ICD10:B45 Orphanet:1546 MedDRA:10011490 MESH:D003453 ICD10:B45.7 ICD10:B45.0 NCIT:C2967 ICD9:117.5 DOID:12053 EFO:0007229 ICD10:B45.2 SCTID:42386007 ICD10:B45.3 ICD10:B45.8 UMLS:C0010414 ICD10:B45.9 GARD:0006218" +MONDO:0005724 "An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004" "ICD10CM:B45.7 Orphanet:1546 MedDRA:10011490 MESH:D003453 ICD10CM:B45.2 NCIT:C2967 ICD10CM:B45.1 ICD10CM:B45.0 ICD9:117.5 DOID:12053 EFO:0007229 ICD10CM:B45.3 ICD10CM:B45.8 SCTID:42386007 ICD10CM:B45.9 UMLS:C0010414 ICD10CM:B45 GARD:0006218" MONDO:0004331 "A adenocarcinoma that involves the urachus." "NCIT:C39843 UMLS:C1511204 MESH:C536474 DOID:7694 GARD:0010186 ONCOTREE:UA" -MONDO:0011185 "Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." "UMLS:C1562894 GARD:0009275 OMIM:602082 ICD10:H18.5 MESH:C535942 ICD9:371.52 SCTID:417065002 Orphanet:98960 DOID:0060455" +MONDO:0011185 "Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." "UMLS:C1562894 GARD:0009275 OMIM:602082 ICD10CM:H18.5 MESH:C535942 ICD9:371.52 SCTID:417065002 Orphanet:98960 DOID:0060455" http://identifiers.org/hgnc/7897 http://identifiers.org/hgnc/6697 -MONDO:0018837 "Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses." "ICD10:I77.6 UMLS:C4510302 Orphanet:48435 SCTID:724063005" -MONDO:0005025 "Inflammation of the endocardium." "MESH:D004696 HP:0100584 ICD9:424.99 DOID:10314 ICD9:421.9 NCIT:C34582 EFO:0000465 ICD10:I33.9 SCTID:56819008" +MONDO:0018837 "Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses." "ICD10CM:I77.6 UMLS:C4510302 Orphanet:48435 SCTID:724063005" +MONDO:0005025 "Inflammation of the endocardium." "MESH:D004696 HP:0100584 ICD9:424.99 DOID:10314 ICD9:421.9 NCIT:C34582 EFO:0000465 SCTID:56819008" MONDO:0003149 UBERON:0003314 http://identifiers.org/hgnc/4044 @@ -13899,19 +13895,19 @@ MONDO:0008042 "UMLS:C1834580 GARD:0009256 OMIM:159700" UBERON:0004777 CHR:9606-chr5q31 MONDO:0030963 "OMIM:619189" -MONDO:0007341 "Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." "GARD:0005532 ICD10:Q77.8 Orphanet:1453 OMIM:119650 UMLS:C1861515 SCTID:719471002 MESH:C536428" -MONDO:0010498 "UMLS:C4085243 ICD10:Q87.8 OMIM:300960 Orphanet:401973" -MONDO:0015908 "Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa." "ICD9:117.2 UMLS:C3245522 UMLS:C0008582 ICD10:B43.9 SCTID:187079000 MedDRA:10008803 ICD10:B43.8 ICD10:B43.1 GARD:0001319 ICD10:B43.2 MESH:D002862 Orphanet:182 EFO:0007207 ICD10:B43.0 DOID:1562" +MONDO:0007341 "Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988." "GARD:0005532 Orphanet:1453 ICD10CM:Q77.8 OMIM:119650 UMLS:C1861515 SCTID:719471002 MESH:C536428" +MONDO:0010498 "UMLS:C4085243 ICD10CM:Q87.8 OMIM:300960 Orphanet:401973" +MONDO:0015908 "Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa." "ICD10CM:B43.8 ICD9:117.2 ICD10CM:B43.9 MESH:D002862 ICD10CM:B43.1 ICD10CM:B43.0 MedDRA:10008803 SCTID:187079000 DOID:1562 UMLS:C3245522 Orphanet:182 EFO:0007207 UMLS:C0008582 ICD10CM:B43.2 GARD:0001319" UBERON:0009670 -MONDO:0011620 "Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions." "OMIM:605946 UMLS:C1853825 SCTID:717221005 ICD10:Q78.5 Orphanet:85188 MESH:C565271" +MONDO:0011620 "Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions." "ICD10CM:Q78.5 OMIM:605946 UMLS:C1853825 SCTID:717221005 Orphanet:85188 MESH:C565271" http://identifiers.org/hgnc/6696 UBERON:0009671 UBERON:0003579 -MONDO:0013755 "Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene." "ICD10:Q82.8 OMIM:614438 DOID:0070138 ICD10:Q87.8 UMLS:C3280799 Orphanet:2962 Orphanet:293633" -MONDO:0011147 "A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts." "ICD9:758.39 OMIM:601808 Orphanet:1600 MESH:C536580 ICD10:Q93.5 Orphanet:262146 UMLS:C0432443 GARD:0013000 SCTID:270889005 NCIT:C84522 DOID:0060407 GARD:0010866" +MONDO:0013755 "Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene." "OMIM:614438 DOID:0070138 ICD10CM:Q87.8 UMLS:C3280799 Orphanet:2962 Orphanet:293633" +MONDO:0011147 "A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts." "ICD9:758.39 OMIM:601808 Orphanet:1600 MESH:C536580 Orphanet:262146 UMLS:C0432443 GARD:0013000 SCTID:270889005 ICD10CM:Q93.5 NCIT:C84522 DOID:0060407 GARD:0010866" HP:0003468 "An abnormality of one or more of the vertebrae." "SNOMEDCT_US:205043005 UMLS:C0158775 Fyler:4108 UMLS:C4020839 SNOMEDCT_US:74877002 UMLS:C4020840" -MONDO:0001621 "An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated." "DOID:13036 NCIT:C34976 ICD10:A68.1 SCTID:10301003 UMLS:C0035022 ICD9:087.1" -MONDO:0017940 "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms." "ICD10:G60.0 SCTID:764730007 UMLS:CN204086 Orphanet:324611" +MONDO:0001621 "An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated." "DOID:13036 NCIT:C34976 SCTID:10301003 ICD10CM:A68.1 UMLS:C0035022 ICD9:087.1" +MONDO:0017940 "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms." "ICD10CM:G60.0 SCTID:764730007 UMLS:CN204086 Orphanet:324611" MONDO:0011695 "Orphanet:39044 OMIM:606660" MONDO:0005547 IAO:8000012 "A subset ontology that is crafted to either include or exclude a taxonomic grouping of species."@en @@ -13922,26 +13918,26 @@ UBERON:0002115 UBERON:0004778 MONDO:0010231 "UMLS:C0796226 OMIM:300047 MESH:C563142" ENVO:00002004 "An object which is large enough to be visible to humans, but small enough that humans can handle the object (i.e. transport it, examine it, etc) in its entirety with little to no technological assistance." -MONDO:0011262 "Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline)." "ICD10:Q87.0 OMIM:602612 MESH:C535876 GARD:0000216 UMLS:C1865133 Orphanet:1323 SCTID:715986009" +MONDO:0011262 "Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline)." "OMIM:602612 MESH:C535876 GARD:0000216 UMLS:C1865133 Orphanet:1323 SCTID:715986009" MONDO:0012894 "ICD9:715.96 SCTID:239873007 UMLS:C0409959 OMIM:612401" GO:0032276 "Any process that modulates the frequency, rate or extent of the regulated release of a gonadotropin." UBERON:0003574 MONDO:0014970 "Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene." "UMLS:C4310666 OMIM:617214 DOID:0070174" GO:0099738 "The complete extent of cell cortex that underlies some some region of the plasma membrane." -MONDO:0017360 "Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." "SCTID:237945003 Orphanet:289916 OMIM:251000 UMLS:CN203025 ICD10:E71.1 UMLS:C1855114" +MONDO:0017360 "Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." "SCTID:237945003 Orphanet:289916 ICD10CM:E71.1 OMIM:251000 UMLS:CN203025 UMLS:C1855114" http://identifiers.org/hgnc/11036 -MONDO:0013758 "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown." "UMLS:C3280845 GARD:0012011 OMIM:614455 Orphanet:93114 DOID:0110205 ICD10:G60.0 SCTID:722294004 UMLS:C4302667" -MONDO:0018436 "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease." "Orphanet:402023 SCTID:763796007 ICD10:C94.2" +MONDO:0013758 "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown." "UMLS:C3280845 GARD:0012011 OMIM:614455 Orphanet:93114 ICD10CM:G60.0 DOID:0110205 SCTID:722294004 UMLS:C4302667" +MONDO:0018436 "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease." "Orphanet:402023 SCTID:763796007 ICD10CM:C94.2" UBERON:0002376 http://identifiers.org/hgnc/10938 -MONDO:0016859 "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." "Orphanet:261579 ICD10:Q10.3 OMIM:110100 UMLS:CN202202" +MONDO:0016859 "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement." "Orphanet:261579 ICD10CM:Q10.3 OMIM:110100 UMLS:CN202202" CHEBI:50689 "A substance used either in the prevention or facilitation of pregnancy." GO:0033280 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus." GO:1902494 "A protein complex which is capable of catalytic activity." -MONDO:0005087 "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma." "DOID:1579 ICD9:519 SCTID:50043002 NCIT:C26871 ICD9:516.9 ICD9:508 ICD9:517.8 ICD9:V12.60 ICD9:V47.2 ICD9:510-519.99 ICD9:516.8 ICD9:517 ICD9:519.1 ICD10:J96-J99 ICD9:508.8 ICD9:519.8 ICD9:500-508.99 ICD9:503 ICD9:508.1 ICD9:516 ICD10:J98 MESH:D012140 ICD9:460-519.99 ICD9:519.9 ICD9:519.3 ICD9:508.9 EFO:0000684" +MONDO:0005087 "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma." "DOID:1579 ICD10CM:J00-J99 ICD9:519 ICD10CM:J96-J99 SCTID:50043002 NCIT:C26871 ICD9:516.9 ICD9:508 ICD9:517.8 ICD9:V12.60 ICD9:V47.2 ICD10CM:P19-P29 ICD9:510-519.99 ICD9:516.8 ICD9:517 ICD9:519.1 ICD9:508.8 ICD10CM:Q30-Q34 ICD9:519.8 ICD9:500-508.99 ICD9:503 ICD9:508.1 ICD9:516 MESH:D012140 ICD9:460-519.99 ICD9:519.9 ICD9:519.3 ICD9:508.9 EFO:0000684" MONDO:0003390 "An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen." "ICDO:8315/3 NCIT:C40368 UMLS:C1512224 DOID:5310" ENVO:01001054 "An environmental system which has its properties and dynamics determined by an aerosol with a low concentration of dissolved solutes." -MONDO:0019375 "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic." "Orphanet:83473 OMIM:615937 OMIM:615938 OMIM:603387 OMIMPS:603387 ICD10:Q04.8 GARD:0010341 SCTID:722036008" +MONDO:0019375 "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic." "Orphanet:83473 OMIM:615937 OMIM:615938 OMIM:603387 OMIMPS:603387 ICD10CM:Q04.8 GARD:0010341 SCTID:722036008" UBERON:0001178 UBERON:0035845 UBERON:0002110 @@ -13954,20 +13950,20 @@ MONDO:0000452 "A multiple sclerosis that is characterized by steadily worsening UBERON:0003573 GO:0006775 "The chemical reactions and pathways involving of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water." MONDO:0004482 "A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion." "ICD9:215.9 DOID:8153 NCIT:C6573 SCTID:403991009 UMLS:C1333612" -MONDO:0004992 "A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas." "SCTID:363346000 GARD:0011960 DOID:0050687 ICD10:C80 MESH:D009369 DOID:0050686 ICD10:C80.1 ICDO:8000/3 UMLS:C0006826 ICD9:199.1 NCIT:C9305 ICD9:195.8 NIFSTD:birnlex_406 ICD9:199 ONCOTREE:MT EFO:0000311 DOID:162" +MONDO:0004992 "A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas." "SCTID:363346000 GARD:0011960 DOID:0050687 MESH:D009369 DOID:0050686 ICDO:8000/3 UMLS:C0006826 ICD9:199.1 NCIT:C9305 ICD9:195.8 NIFSTD:birnlex_406 ICD9:199 ONCOTREE:MT EFO:0000311 DOID:162 ICD10CM:C76-C80" GO:0007417 "The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord." -MONDO:0020743 "An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage." "NCIT:C82179 ICD10:C95.0 MedDRA:10067399 Orphanet:530995" +MONDO:0020743 "An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage." "NCIT:C82179 MedDRA:10067399 Orphanet:530995" SO:0001026 "A genome is the sum of genetic material within a cell or virion." MONDO:0001743 "A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type." "DOID:1355 NCIT:C6068 UMLS:C1335339" MONDO:0009248 "UMLS:C1856686 OMIM:229500 MESH:C565558" UBERON:0004772 -MONDO:0015553 "Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails." "ICD10:Q81.2 SCTID:722436002 UMLS:CN199732 Orphanet:158676" +MONDO:0015553 "Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails." "ICD10CM:Q81.2 SCTID:722436002 UMLS:CN199732 Orphanet:158676" UBERON:0001177 -MONDO:0020483 "Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ)." "ICD10:G71.1 OMIM:608390 Orphanet:99736 SCTID:715793003" +MONDO:0020483 "Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ)." "OMIM:608390 ICD10CM:G71.1 Orphanet:99736 SCTID:715793003" UBERON:0003576 GO:0051038 "Any process that stops, prevents, or reduces the frequency, rate or extent of transcription involved in the meiotic cell cycle." MONDO:0044239 "OMIM:155150" -MONDO:0014339 "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene." "Orphanet:412057 DOID:0080029 OMIM:615768 UMLS:C4014261 ICD10:G11.1" +MONDO:0014339 "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene." "Orphanet:412057 DOID:0080029 ICD10CM:G11.1 OMIM:615768 UMLS:C4014261" GO:0010954 "Any process that increases the rate, frequency or extent of protein maturation by peptide bond cleavage." http://identifiers.org/hgnc/10936 MONDO:0013764 "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene." "Orphanet:2318 DOID:0110985 OMIM:614465 UMLS:C3280906" @@ -13980,12 +13976,12 @@ MONDO:0014514 "Any familial thoracic aortic aneurysm and aortic dissection in wh GO:0015925 "Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative." NCBITaxon:5878 "GC_ID:6" UBERON:0002112 -MONDO:0018740 "Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene)." "Orphanet:464453 UMLS:C0271905 NCIT:C101045 ICD10:D74.8 SCTID:191390009" +MONDO:0018740 "Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene)." "ICD10CM:D74.8 Orphanet:464453 UMLS:C0271905 NCIT:C101045 SCTID:191390009" UBERON:0004773 MONDO:0003892 "A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)" "NCIT:C5649 UMLS:C1332137 DOID:6482" http://identifiers.org/hgnc/14630 GO:0046950 "The chemical reactions and pathways involving ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone, as carried out by individual cells. Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in an equilibrium with acetoacetate. Ketone bodies may accumulate in excessive amounts in the body in starvation, diabetes mellitus or in other defects of carbohydrate metabolism." -MONDO:0005988 "A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections." "MESH:D014120 DOID:9790 MESH:D007816 ICD10:B83.0 UMLS:C0040553 MedDRA:10044269 SCTID:406619001 NCIT:C34758 Orphanet:3343 GARD:0007788 ICD9:128.0 EFO:0007516" +MONDO:0005988 "A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections." "EFO:0007516 SCTID:406619001 MESH:D014120 ICD9:128.0 MedDRA:10044269 NCIT:C34758 UMLS:C0040553 GARD:0007788 MESH:D007816 Orphanet:3343 DOID:9790" MONDO:0012973 "An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15." "DOID:0110901 UMLS:C2675249 MESH:C567217 OMIM:612639" ECTO:0000544 "An exposure to antimicrobial agent." MONDO:0000589 "A hypersensitivity reaction type II disease that involves the musculoskeletal system." "DOID:0060032" @@ -13993,28 +13989,28 @@ GO:0004345 "Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono UBERON:0035841 MONDO:0024873 "A carcinoma that arises from the clitoris." "UMLS:C1333070 NCIT:C9362" UBERON:0003575 -MONDO:0004858 "Blockage of the normal flow of the contents of the gallbladder." "ICD9:575.2 NCIT:C78308 DOID:9714 SCTID:197416005 UMLS:C0156214 ICD10:K82.0" +MONDO:0004858 "Blockage of the normal flow of the contents of the gallbladder." "ICD9:575.2 ICD10CM:K82.0 NCIT:C78308 DOID:9714 SCTID:197416005 UMLS:C0156214" MONDO:0044238 "OMIM:152600" UBERON:0011850 MONDO:0043953 "Infections with bacteria of the genus Burkholderia." "SCTID:721736003 MESH:D019121 EFO:1001280" MONDO:0000428 "Y-linked form of disease." "DOID:0050738 UMLS:C1563751 MESH:D050174" -MONDO:0019954 "Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma)." "ICD10:E16.8 NCIT:C27720 EFO:1000045 DOID:1799 Orphanet:97253 ICDO:8150/1 GARD:0013034 ONCOTREE:PANET" +MONDO:0019954 "Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma)." "NCIT:C27720 EFO:1000045 ICD10CM:E16.8 DOID:1799 Orphanet:97253 ICDO:8150/1 GARD:0013034 ONCOTREE:PANET" UBERON:0002377 -MONDO:0001451 "Degeneration of the peripheral retina." "SCTID:405721006 ICD9:362.6 DOID:12161 ICD10:H35.40 UMLS:C1320640 ICD10:H35.4 ICD9:362.60 NCIT:C34919" +MONDO:0001451 "Degeneration of the peripheral retina." "SCTID:405721006 ICD9:362.6 DOID:12161 ICD10CM:H35.4 UMLS:C1320640 ICD9:362.60 NCIT:C34919" MONDO:0009770 "Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene." "OMIM:257920 Orphanet:293843 UMLS:C0796059 Orphanet:2506 EFO:1001978 DOID:0060575" -MONDO:0016540 "ICD10:D75.1 Orphanet:238536" -MONDO:0007564 "Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome." "GARD:0009452 EFO:0009082 ICD10:C44.6 UMLS:C0853031 NCIT:C7368 SCTID:274901004 UMLS:C0206711 Orphanet:91414 OMIM:132600 ICDO:8110/0 ICD10:C44.3 MESH:D018296 MedDRA:10035040 DOID:5374" +MONDO:0016540 "ICD10CM:D75.1 Orphanet:238536" +MONDO:0007564 "Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome." "GARD:0009452 EFO:0009082 UMLS:C0853031 NCIT:C7368 SCTID:274901004 UMLS:C0206711 Orphanet:91414 OMIM:132600 ICDO:8110/0 ICD10CM:C44.6 ICD10CM:C44.3 MESH:D018296 MedDRA:10035040 DOID:5374" UBERON:0002111 UBERON:0004774 CL:0002421 "A reticulocyte that retains the nucleus and other organelles. Found in birds, fish, amphibians and reptiles." http://identifiers.org/hgnc/16192 -MONDO:0009290 "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal." "MedDRA:10053185 GARD:0005714 ICD10:E74.02 ICD10:E74.0 Orphanet:365 UMLS:C1968741 NCIT:C84734 DOID:2752 SCTID:274864009 UMLS:C0017921 GARD:0002503 OMIM:232300" +MONDO:0009290 "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal." "MedDRA:10053185 GARD:0005714 Orphanet:365 UMLS:C1968741 NCIT:C84734 DOID:2752 SCTID:274864009 ICD10CM:E74.0 UMLS:C0017921 GARD:0002503 OMIM:232300" NCBITaxon:7174 "GC_ID:1" CHR:9606-chr21q22.11-q22.12 MONDO:0009246 "OMIM:229310 UMLS:C1856688 MESH:C538061" UBERON:0001179 CHEBI:57977 "A dicarboxylic acid dianion obtained by deprotonation of the two carboxy groups of bilirubin; major species at pH 7.3." -MONDO:0009267 "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." "Orphanet:355 DOID:0110959 Orphanet:77261 GARD:0002443 ICD10:E75.2 OMIM:231000 SCTID:5963005" +MONDO:0009267 "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." "ICD10CM:E75.2 Orphanet:355 DOID:0110959 Orphanet:77261 GARD:0002443 OMIM:231000 SCTID:5963005" MONDO:0044237 "OMIM:144020" UBERON:0002372 MONDO:0001204 "A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma." "UMLS:C1333466 NCIT:C5341 DOID:1114" @@ -14022,10 +14018,10 @@ HP:0010927 "An abnormality of divalent inorganic cation homeostasis." "UMLS:C402 NCBITaxon:2611341 "PMID:30257078 GC_ID:1" MONDO:0020288 "Orphanet:98720" UBERON:0037144 -MONDO:0020022 "MESH:D009421 Orphanet:98044" +MONDO:0020022 "MESH:D009421 ICD10CM:Q00-Q07 Orphanet:98044" MONDO:0021334 "Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins." "MESH:D007160 SCTID:127071007 ICD9:203.80 UMLS:C0021070" http://identifiers.org/hgnc/91 -MONDO:0015028 "The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." "ICD9:758.81 ICD10:Q98.8 MedDRA:10048230 NCIT:C89801 GARD:0005677 UMLS:C2936741 SCTID:403760006 Orphanet:10" +MONDO:0015028 "The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males." "ICD10CM:Q98.8 ICD9:758.81 MedDRA:10048230 NCIT:C89801 GARD:0005677 UMLS:C2936741 SCTID:403760006 Orphanet:10" UBERON:0003570 PATO:0000998 "A viscosity quality inhering in a bearer by virtue of the bearer's having viscosity." UBERON:0006071 @@ -14035,14 +14031,14 @@ GO:0019852 "The chemical reactions and pathways involving L-ascorbic acid, (2R)- http://identifiers.org/hgnc/1540 GO:0050867 "Any process that activates or increases the frequency, rate or extent of activation." UBERON:8000007 -MONDO:0012184 "Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria." "Orphanet:2670 GARD:0009420 OMIM:609049 NCIT:C128145 ICD10:N04.8 MESH:C537185 GARD:0003945 DOID:0060852 SCTID:723449004 UMLS:C1836876" +MONDO:0012184 "Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria." "Orphanet:2670 GARD:0009420 OMIM:609049 NCIT:C128145 MESH:C537185 GARD:0003945 DOID:0060852 SCTID:723449004 UMLS:C1836876 ICD10CM:N04.8" CL:0000506 "An endorphine cell that secretes enkephalin." MONDO:0013794 "Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene." "UMLS:C3281125 Orphanet:71493 Orphanet:3318 OMIM:614521" HP:0031899 "Any deviation from the activity of coagulation factor V." MONDO:0003590 "A liposarcoma characterized by the presence of a fibroblastic component." "UMLS:C1266130 NCIT:C6509 ICDO:8857/3 DOID:5698" -MONDO:0007726 "Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing." "OMIM:142669 Orphanet:2114 MESH:C564185 GARD:0002690 ICD10:Q65.8 SCTID:721148005 DOID:0111367" +MONDO:0007726 "Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing." "OMIM:142669 Orphanet:2114 MESH:C564185 GARD:0002690 ICD10CM:Q65.8 SCTID:721148005 DOID:0111367" MONDO:0003007 "A renal cell carcinoma that occurs during childhood." "UMLS:C1333001 DOID:4454 NCIT:C6568" -MONDO:0020289 "ICD10:Q22.5 ICD10:Q22.9 Orphanet:98721 HP:0001702 ICD10:Q22.4 ICD10:Q22.8" +MONDO:0020289 "Orphanet:98721 ICD10CM:Q22.4 HP:0001702 ICD10CM:Q22.5 ICD10CM:Q22.8 ICD10CM:Q22.9" UBERON:0002371 MONDO:0005643 "Virus diseases caused by members of the alphavirus genus of the family togaviridae." "EFO:0007142 UMLS:C0206752 MESH:D018354" MONDO:0020023 "Orphanet:98045" @@ -14053,17 +14049,17 @@ MONDO:0022424 "UMLS:C2931251 MESH:C536584" MONDO:0008049 "UMLS:C1834556 DOID:0070196 OMIM:160300 UMLS:C4011725" MONDO:0022070 "Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies" "GARD:0001083" http://identifiers.org/hgnc/18591 -MONDO:0018467 "Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." "Orphanet:411629 OMIM:219800 UMLS:C0010690 Orphanet:213 ICD10:E72.0+ ICD10:N16.3*" +MONDO:0018467 "Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." "Orphanet:411629 OMIM:219800 UMLS:C0010690 ICD10EXP:E72.0+ Orphanet:213 ICD10EXP:N16.3*" UBERON:0001173 GO:0019208 "Binds to and modulates the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule." GO:0070126 "The process resulting in the release of a polypeptide chain from the ribosome in a mitochondrion, usually in response to a termination codon (note that mitochondria use variants of the universal genetic code that differ between different taxa)." http://identifiers.org/hgnc/14631 GO:0055114 "OBSOLETE. A metabolic process that results in the removal or addition of one or more electrons to or from a substance, with or without the concomitant removal or addition of a proton or protons." -MONDO:0004975 "A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." "MESH:D000544 HP:0002511 DOID:10652 ICD9:331.0 OMIM:615590 GARD:0000632 ICD10:G30.9 EFO:0000249 ICD9:290.1 UMLS:C0002395 KEGG:05010 OMIM:615711 OMIM:502500 OMIM:604154 OMIM:605526 SCTID:142811000119104 OMIM:104300 NIFSTD:birnlex_2092 NCIT:C38778 Orphanet:238616 NCIT:C2866 ICD10:G30" -MONDO:0011810 "Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." "UMLS:C1846496 GARD:0012682 SCTID:702381007 ICD10:H49.4 Orphanet:2744 ICD9:737.43 MESH:C564593 OMIMPS:607313" +MONDO:0004975 "A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." "MESH:D000544 ICD10CM:G30 HP:0002511 DOID:10652 ICD9:331.0 OMIM:615590 GARD:0000632 EFO:0000249 ICD9:290.1 UMLS:C0002395 KEGG:05010 OMIM:615711 OMIM:502500 OMIM:604154 OMIM:605526 SCTID:142811000119104 OMIM:104300 NIFSTD:birnlex_2092 NCIT:C38778 Orphanet:238616 NCIT:C2866" +MONDO:0011810 "Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." "UMLS:C1846496 GARD:0012682 SCTID:702381007 OMIM:607313 ICD10CM:H49.4 Orphanet:2744 ICD9:737.43 MESH:C564593 OMIMPS:607313" http://identifiers.org/hgnc/14897 MONDO:0020129 "An instance of motor neuron disease that is acquired during the lifetime of the individual." "UMLS:CN207019 Orphanet:98506" -MONDO:0000127 "Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \"happy'')." "OMIM:614185 MedDRA:10063361 ICD10:Q87.1 ICD9:759.89 SCTID:28557005 DOID:0111724 OMIM:231050 Orphanet:2623 GARD:0002449 OMIMPS:231050" +MONDO:0000127 "Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \"happy'')." "OMIM:614185 MedDRA:10063361 ICD9:759.89 SCTID:28557005 DOID:0111724 ICD10CM:Q87.1 OMIM:231050 Orphanet:2623 GARD:0002449 OMIM:617809 OMIMPS:231050" MONDO:0021226 UBERON:0002374 http://identifiers.org/hgnc/13433 @@ -14075,13 +14071,13 @@ http://identifiers.org/hgnc/15832 MONDO:0022423 UBERON:0003572 MONDO:0013655 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene." "UMLS:C3280282 Orphanet:178469 DOID:0070038 OMIM:614254" -MONDO:0008377 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene." "OMIM:180100 UMLS:C0035334 GARD:0009149 DOID:0110390 MESH:C538365 ICD10:H35.5 UMLS:C0220701" -MONDO:0009238 "Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." "GARD:0012983 ICD10:D52.8 MESH:C562799 UMLS:C0342705 Orphanet:90045 SCTID:62578003 OMIM:229050 DOID:0111678" +MONDO:0008377 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene." "OMIM:180100 UMLS:C0035334 GARD:0009149 DOID:0110390 MESH:C538365 UMLS:C0220701" +MONDO:0009238 "Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." "GARD:0012983 MESH:C562799 UMLS:C0342705 Orphanet:90045 SCTID:62578003 OMIM:229050 ICD10CM:D52.8 DOID:0111678" MONDO:0003808 "An osteosarcoma arising from the mediastinum." "NCIT:C6615 UMLS:C1334675 DOID:6208" -MONDO:0017506 "Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb." "ICD10:Q71.3 Orphanet:295110" +MONDO:0017506 "Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb." "ICD10CM:Q71.3 Orphanet:295110" UBERON:0001176 UBERON:0035847 -MONDO:0008547 "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." "Orphanet:2655 UMLS:C1300257 UMLS:CN206542 OMIM:156830 SCTID:389158007 OMIM:187601 ICD9:742.59 ICD10:Q77.1 MESH:C536508 GARD:0001402 NCIT:C98584 Orphanet:93274" +MONDO:0008547 "Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs." "Orphanet:2655 UMLS:C1300257 UMLS:CN206542 OMIM:156830 SCTID:389158007 OMIM:187601 ICD9:742.59 MESH:C536508 GARD:0001402 NCIT:C98584 Orphanet:93274 ICD10CM:Q77.1" MONDO:0005574 "Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration." "DOID:680 EFO:0005815 MESH:D024801 UMLS:C0949664" UBERON:0002373 NCBITaxon:272561 "GC_ID:11" @@ -14089,7 +14085,7 @@ MONDO:0003029 "A malignant vascular neoplasm arising from the skin." "SCTID:2547 GO:0045723 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids." HsapDv:0000091 "Adult stage that refers to an adult who is over 45." MONDO:0044234 "OMIM:139450" -MONDO:0004810 "Acute form of ethmoid sinusitis." "DOID:9506 ICD10:J01.2 ICD10:J01.20 ICD9:461.2 UMLS:C0155806 SCTID:67832005" +MONDO:0004810 "Acute form of ethmoid sinusitis." "DOID:9506 ICD9:461.2 UMLS:C0155806 SCTID:67832005" HP:0001269 "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength." "MSH:D010291 UMLS:C0018989 SNOMEDCT_US:127377003 SNOMEDCT_US:20022000" MONDO:0000990 "Acute form of subendocardial myocardial infarction." "DOID:10266 SCTID:70422006 UMLS:C0264710 ICD9:410.7 ICD9:410.70 ICD9:410.71 ICD9:410.72" http://identifiers.org/hgnc/11037 @@ -14101,19 +14097,19 @@ GO:0019207 "Modulates the activity of a kinase, an enzyme which catalyzes of the http://identifiers.org/hgnc/10939 UBERON:0001175 http://identifiers.org/hgnc/1541 -MONDO:0007271 "Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission." "GARD:0009799 MESH:C562925 SCTID:239139000 ICD10:L94.8 Orphanet:53296 UMLS:C0406817 OMIM:115250" -MONDO:0013482 "Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene." "OMIM:613885 Orphanet:564 DOID:0070122 ICD10:Q61.9 UMLS:C3836857" +MONDO:0007271 "Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission." "GARD:0009799 ICD10CM:L94.8 MESH:C562925 SCTID:239139000 Orphanet:53296 UMLS:C0406817 OMIM:115250" +MONDO:0013482 "Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene." "OMIM:613885 Orphanet:564 DOID:0070122 UMLS:C3836857" MONDO:0014496 "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene." "Orphanet:1460 UMLS:C4015253 DOID:0080118 OMIM:616111" NCBITaxon:7178 "GC_ID:1" NBO:0000355 "\"Intentionally or habitually assumed arrangement of the body and its limbs.\" [NBO:GVG]" UBERON:8000006 -MONDO:0005029 "A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)" "DOID:2224 EFO:0000479 NCIT:C3407 ICD9:238.71 SCTID:109994006 ICDO:9962/3 ICD10:D47.3 Orphanet:3318 OMIM:300331 UMLS:C0040028 MESH:D013920 OMIM:601977 OMIM:614521 MedDRA:10015493 OMIM:187950 GARD:0006594 Orphanet:71493 ONCOTREE:ET" +MONDO:0005029 "A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)" "DOID:2224 EFO:0000479 NCIT:C3407 ICD9:238.71 SCTID:109994006 ICDO:9962/3 Orphanet:3318 UMLS:C0040028 MESH:D013920 OMIM:601977 OMIM:614521 MedDRA:10015493 OMIM:187950 GARD:0006594 Orphanet:71493 ONCOTREE:ET" UBERON:0004770 UBERON:0035846 GO:0061512 "A process in which a protein is transported to, or maintained in, a location within a cilium." CL:0001060 "A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers." -MONDO:0016527 "MESH:C580233 OMIM:614128 Orphanet:2364 ICD10:E74.4 OMIM:612933 GARD:0003159" -MONDO:0000447 "An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver." "GARD:0009457 MedDRA:10083939 OMIM:174050 ICD10:Q44.6 HP:0006557 OMIMPS:174050 NCIT:C82833 Orphanet:2924 SCTID:72925005 UMLS:C0158683 MedDRA:10048834 MedDRA:10010427 DOID:0050770 ICD9:751.62" +MONDO:0016527 "MESH:C580233 OMIM:614128 Orphanet:2364 ICD10CM:E74.4 OMIM:612933 GARD:0003159" +MONDO:0000447 "An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver." "GARD:0009457 MedDRA:10083939 OMIM:174050 HP:0006557 OMIMPS:174050 NCIT:C82833 ICD10CM:Q44.6 Orphanet:2924 SCTID:72925005 UMLS:C0158683 MedDRA:10048834 MedDRA:10010427 DOID:0050770 ICD9:751.62" MONDO:0044245 "OMIM:161100" GO:0043576 "Any process that modulates the frequency, rate or extent of the process of gaseous exchange between an organism and its environment." MONDO:0020272 @@ -14123,30 +14119,30 @@ MONDO:0003163 "UMLS:C1334254 DOID:4846 NCIT:C5408" MONDO:0003890 "An invasive transitional cell carcinoma that arises from the urinary bladder urothelium." "DOID:6477 UMLS:C1334281 NCIT:C27885" http://identifiers.org/hgnc/95 MONDO:0015329 "UMLS:CN199359 SCTID:205808005 Orphanet:139021" -MONDO:0016848 "Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs." "SCTID:722020006 Orphanet:26137 GARD:0003068 UMLS:C0751547 ICD10:L95.8" +MONDO:0016848 "Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs." "SCTID:722020006 Orphanet:26137 ICD10CM:L95.8 GARD:0003068 UMLS:C0751547" UBERON:0001170 -MONDO:0017724 "UMLS:CN203620 ICD10:E75.0 Orphanet:309178" +MONDO:0017724 "UMLS:CN203620 Orphanet:309178 ICD10CM:E75.0" UBERON:0011856 MONDO:0011193 "Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene." "DOID:0080314 Orphanet:1872 OMIM:602093 Orphanet:1871 UMLS:C1865869" http://identifiers.org/hgnc/11051 MONDO:0044870 "An instance of torsion dystonia that is acquired during the lifetime of the individual." "SCTID:433493000 UMLS:C1719382" -MONDO:0007827 "Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features." "OMIM:605820 SCTID:72315009 ICD9:729.1 Orphanet:611 MESH:D018979 ICD9:359.71 ICD10:M60.8 EFO:0007323 OMIM:605637 MedDRA:10066407 UMLS:C0238190 OMIM:147421 DOID:3429 GARD:0003896 NCIT:C84786 ICD10:G72.41" +MONDO:0007827 "Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features." "OMIM:605820 SCTID:72315009 ICD9:729.1 Orphanet:611 MESH:D018979 ICD9:359.71 EFO:0007323 ICD10CM:M60.8 OMIM:605637 MedDRA:10066407 UMLS:C0238190 OMIM:147421 DOID:3429 GARD:0003896 NCIT:C84786" GO:0042060 "The series of events that restore integrity to a damaged tissue, following an injury." MONDO:0044244 "OMIM:161080" GO:0007420 "The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)." MONDO:0020273 "Orphanet:98703 UMLS:CN207078" -MONDO:0005041 "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." "NCIT:C26782 ICD10:H40-H42 EFO:0000516 ICD9:365 MESH:D005901 ICD10:H40.H42 HP:0000501 DOID:1686 ICD9:365.89 ICD10:H40 ICD9:365.9 SCTID:23986001 ICD10:H40.9 UMLS:C0017601" +MONDO:0005041 "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." "NCIT:C26782 EFO:0000516 ICD9:365 MESH:D005901 HP:0000501 DOID:1686 ICD10CM:H40-H42 ICD9:365.89 ICD9:365.9 SCTID:23986001 UMLS:C0017601" MONDO:0002987 "A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication." "SCTID:23615008 DOID:4406 EFO:1000768 UMLS:C0262984 ICD9:692.9 NCIT:C27037" MONDO:0015673 "OBSOLETE. Any of the forms of heart neoplasm that have a rare incidence." "Orphanet:168194" http://identifiers.org/hgnc/94 MONDO:0011545 "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene." "UMLS:C1854335 DOID:0060684 Orphanet:98784 MESH:C565334 OMIM:605375" NCBITaxon:103828 "GC_ID:1" -MONDO:0001760 "Injury to the cornea secondary to ultraviolet light." "SCTID:1714005 DOID:13626 UMLS:C0155078 ICD10:H16.13 NCIT:C118750 ICD9:370.24" +MONDO:0001760 "Injury to the cornea secondary to ultraviolet light." "SCTID:1714005 DOID:13626 UMLS:C0155078 NCIT:C118750 ICD9:370.24" NCBITaxon:1963758 "GC_ID:1" -MONDO:0017725 "UMLS:CN203621 Orphanet:309185 ICD10:E75.0" +MONDO:0017725 "UMLS:CN203621 Orphanet:309185 ICD10CM:E75.0" GO:1901606 "The chemical reactions and pathways resulting in the breakdown of an alpha-amino acid." MONDO:0014533 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene." "DOID:0080452 UMLS:C4015519 OMIM:616211" -MONDO:0015767 "Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males." "GARD:0006091 Orphanet:1738 ICD10:Q92.2 MESH:C537643" +MONDO:0015767 "Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males." "GARD:0006091 Orphanet:1738 MESH:C537643 ICD10CM:Q92.2" UBERON:0035828 MONDO:0023370 "Either an isolated neoplasm or a syndrome with neoplasm as a major feature." UBERON:0011857 @@ -14155,31 +14151,31 @@ http://identifiers.org/hgnc/11050 GO:0051098 "Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule." NCBITaxon:72041 "GC_ID:1" GO:0006449 "Any process that modulates the frequency, rate or extent of translational termination." -MONDO:0015355 "Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness." "OMIM:607641 Orphanet:139589 UMLS:CN199425 ICD10:G12.2 OMIM:158580 DOID:0111199" +MONDO:0015355 "Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness." "OMIM:607641 Orphanet:139589 ICD10CM:G12.2 UMLS:CN199425 OMIM:158580 DOID:0111199" UBERON:0002370 MONDO:0044243 "OMIM:161070" GO:0060376 "Any process that increases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation." ECTO:9002062 "An exposure to food propellant." MONDO:0020274 "UMLS:CN207079 Orphanet:98704" -MONDO:0001498 "A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume." "ICD10:I86.1 SCTID:46871008 MESH:D014646 UMLS:C0042341 DOID:12337 ICD9:456.4" -MONDO:0011717 "Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur." "NCIT:C131832 MESH:C538375 ICD10:E72.8 Orphanet:35878 UMLS:C1847555 DOID:0070217 OMIM:606762 GARD:0009931" +MONDO:0001498 "A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume." "SCTID:46871008 MESH:D014646 UMLS:C0042341 DOID:12337 ICD10CM:I86.1 ICD9:456.4" +MONDO:0011717 "Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur." "NCIT:C131832 MESH:C538375 ICD10CM:E72.8 Orphanet:35878 UMLS:C1847555 DOID:0070217 OMIM:606762 GARD:0009931" MONDO:0000401 GO:0032880 "Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location." MONDO:0003161 -MONDO:0006183 "A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." "DOID:5728 Orphanet:71274 ICD10:D20.1 GARD:0012843 NCIT:C3958 UMLS:C0267785 SCTID:62557001 EFO:1000220" +MONDO:0006183 "A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." "DOID:5728 Orphanet:71274 ICD10CM:D20.1 GARD:0012843 NCIT:C3958 UMLS:C0267785 SCTID:62557001 EFO:1000220" UBERON:0001172 MONDO:0014179 "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene." "DOID:0111386 OMIM:615424 UMLS:C3809469 Orphanet:52430" HP:0001909 "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." "UMLS:C0023418 MSH:D019337 MSH:D007938 SNOMEDCT_US:87163000 SNOMEDCT_US:129154003 UMLS:C0376545 SNOMEDCT_US:93143009 SNOMEDCT_US:269475001" CHEBI:35507 -MONDO:0017722 "OMIM:268800 UMLS:CN203618 ICD10:E75.0 Orphanet:309162" +MONDO:0017722 "ICD10CM:E75.0 OMIM:268800 UMLS:CN203618 Orphanet:309162" CL:0000163 "A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions." "FMA:83809" MONDO:0015327 "Orphanet:139009" UBERON:0035827 NCBITaxon:2732506 "GC_ID:1" MONDO:0002476 "Absence of urine output." "UMLS:C0003460 DOID:2983 MESH:D001002 NCIT:C114699" UBERON:0011858 -MONDO:0009239 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene." "ICD10:E23.6 Orphanet:52901 GARD:0010128 MESH:C537070 OMIM:229070 SCTID:758664007 DOID:0090088 UMLS:C1856716" -MONDO:0001864 "ICD10:H40.24 DOID:1404 UMLS:C0154948 SCTID:55129006 ICD9:365.24" +MONDO:0009239 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene." "Orphanet:52901 GARD:0010128 MESH:C537070 OMIM:229070 SCTID:758664007 ICD10CM:E23.6 DOID:0090088 UMLS:C1856716" +MONDO:0001864 "DOID:1404 UMLS:C0154948 SCTID:55129006 ICD9:365.24" MONDO:0004362 GO:0051239 "Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs." MONDO:0002021 "A disease involving the gingiva." "MESH:D005882 DOID:1483 SCTID:18718003 UMLS:C0017563" @@ -14199,8 +14195,8 @@ UBERON:0011859 MONDO:0200000 "An extremely rare adenosarcoma that arises from the uterine ligament." "UMLS:C3640823 NCIT:C102570" MONDO:0002065 "A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation." "NCIT:C5144 UMLS:C1332477 DOID:1641" UBERON:0035826 -MONDO:0005224 "An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)" "Orphanet:98833 ICD10:C92.0 ICDO:9873/3 NCIT:C3249 GARD:0000526 ONCOTREE:AWM EFO:0003027 SCTID:359640008" -MONDO:0003783 "Reduction in the number of lymphocytes." "MESH:D008231 ICD9:288.51 HP:0001888 UMLS:C0024312 ICD10:D72.810 ICD9:288.8 DOID:614 SCTID:48813009" +MONDO:0005224 "An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)" "Orphanet:98833 ICDO:9873/3 NCIT:C3249 ICD10CM:C92.0 GARD:0000526 ONCOTREE:AWM EFO:0003027 SCTID:359640008" +MONDO:0003783 "Reduction in the number of lymphocytes." "MESH:D008231 ICD9:288.51 HP:0001888 UMLS:C0024312 ICD9:288.8 ICD10CM:D72.810 DOID:614 SCTID:48813009" http://identifiers.org/hgnc/11056 MONDO:0004540 "A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." "UMLS:C1321427 DOID:8353 SCTID:404038007 EFO:1000245 NCIT:C6561" GO:0001578 "A process that results in a parallel arrangement of microtubules." @@ -14208,16 +14204,16 @@ MONDO:0044241 "OMIM:159410" GO:0033604 "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a catecholamine." CL:2000089 "The principal cell type of the dentate gyrus." GO:0030262 "Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis." -MONDO:0010948 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene." "ICD10:Q12.0 Orphanet:98985 DOID:0110258 Orphanet:91492 MESH:C563435 OMIM:600881 UMLS:C1833229 Orphanet:98995" +MONDO:0010948 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene." "Orphanet:98985 DOID:0110258 Orphanet:91492 MESH:C563435 OMIM:600881 UMLS:C1833229 Orphanet:98995" MONDO:0019282 "UMLS:CN227611 Orphanet:79367" -MONDO:0005160 "A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta." "NCIT:C27198 ICD10:I71.9 EFO:0001666 UMLS:C0003486 HP:0004942 NCIT:C27299 DOID:3627 ICD10:I71.3 UMLS:C1305122 ICD10:I71.8 ICD9:441.3 UMLS:C0265010 ICD9:441.5 SCTID:73067008 ICD10:I71.1 ICD10:I71.5 UMLS:C0741160 MP:0006278 NCIT:C26697 ICD9:441.1 UMLS:C0265012 NCIT:C27046 ICD9:441.6 OMIM:607086" +MONDO:0005160 "A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta." "NCIT:C27198 EFO:0001666 UMLS:C0003486 HP:0004942 NCIT:C27299 DOID:3627 UMLS:C1305122 ICD9:441.3 UMLS:C0265010 ICD9:441.5 SCTID:73067008 UMLS:C0741160 MP:0006278 NCIT:C26697 ICD9:441.1 UMLS:C0265012 NCIT:C27046 ICD9:441.6 OMIM:607086" MONDO:0009273 "Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene." "Orphanet:99927 Orphanet:254688 UMLS:C3463897 OMIM:231090" -MONDO:0019139 "Acquired hemophilia A (AHA) is a rare,often severe, hematological autoimmune disorder characterized by spontaneous hemorrhages into the skin, muscles, soft tissues,or mucous membranes." "ICD10:D68.311 GARD:0010350 MedDRA:10053745 ICD10:D68.4 Orphanet:73274 MESH:C536392 UMLS:C1096116" -MONDO:0020503 "Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." "ICD10:E03.1 Orphanet:99832 UMLS:CN207394 SCTID:725462002" +MONDO:0019139 "Acquired hemophilia A (AHA) is a rare,often severe, hematological autoimmune disorder characterized by spontaneous hemorrhages into the skin, muscles, soft tissues,or mucous membranes." "GARD:0010350 MedDRA:10053745 ICD10CM:D68.311 Orphanet:73274 MESH:C536392 UMLS:C1096116" +MONDO:0020503 "Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." "Orphanet:99832 UMLS:CN207394 ICD10CM:E03.1 SCTID:725462002" MONDO:0017986 "UMLS:CN237437 Orphanet:3276" -MONDO:0012701 "A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22." "ICD10:Q12.0 DOID:0110239 Orphanet:91492 MESH:C566909 Orphanet:98992 OMIM:611597" +MONDO:0012701 "A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22." "DOID:0110239 Orphanet:91492 MESH:C566909 Orphanet:98992 OMIM:611597" http://identifiers.org/hgnc/32528 -MONDO:0018106 "Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." "OMIM:278300 UMLS:C1863688 SCTID:72682008 MESH:C566358 OMIMPS:278300 DOID:0060236 Orphanet:3467 OMIM:603592 ICD9:277.2 HP:0010934 MESH:C562584 SCTID:54627004 ICD10:E79.8" +MONDO:0018106 "Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." "OMIM:278300 UMLS:C1863688 SCTID:72682008 MESH:C566358 OMIMPS:278300 DOID:0060236 Orphanet:3467 OMIM:603592 ICD9:277.2 HP:0010934 MESH:C562584 SCTID:54627004 ICD10CM:E79.8" GO:0009890 "Any process that stops, prevents, or reduces the rate of the chemical reactions and pathways resulting in the formation of substances." CHEBI:39467 MONDO:0001862 "SCTID:94140004 DOID:14033 UMLS:C0153496" @@ -14225,10 +14221,10 @@ HP:0025015 http://identifiers.org/hgnc/11055 MONDO:0044727 "A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss." "Orphanet:506112 UMLS:C1709050 NCIT:C45843" MONDO:0019281 "Orphanet:79366" -MONDO:0002257 "Fixation and immobility of a joint." "DOID:227 ICD9:718.5 ICD10:M24.6 ICD9:718.50 HP:0031013 SCTID:111227009 MESH:D000844" +MONDO:0002257 "Fixation and immobility of a joint." "DOID:227 ICD9:718.5 ICD9:718.50 HP:0031013 SCTID:111227009 MESH:D000844" MONDO:0016943 "Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from aparent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person." "Orphanet:262740 UMLS:CN036641 GARD:0005352 MESH:C537811" MONDO:0020576 "Inflammation of the blood vessel wall characterized by palpable purpura." "NCIT:C112210 UMLS:C0262988" -MONDO:0017721 "Orphanet:309155 ICD10:E75.0 OMIM:268800 UMLS:CN203617" +MONDO:0017721 "ICD10CM:E75.0 Orphanet:309155 OMIM:268800 UMLS:CN203617" MONDO:0004493 "A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli." "DOID:8193 NCIT:C39928 UMLS:C1515310" GO:0031975 "A multilayered structure surrounding all or part of a cell; encompasses one or more lipid bilayers, and may include a cell wall layer; also includes the space between layers." MONDO:0006674 "OBSOLETE. A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." "UMLS:C0334511 MESH:D054363 DOID:2653" @@ -14239,19 +14235,19 @@ MONDO:0700033 "Trisomy 13 in which the presence of an extra copy of chromosome 1 CL:0002539 "A smooth muscle cell of the aorta." "BTO:0004577" CL:0000322 "An epithelial cell that lines the peripheral gas exchange region of the lungs of air-breathing vertebrates." "FMA:62499 CALOHA:TS-2168 BTO:0000395" MONDO:0020270 "Orphanet:98700 UMLS:CN227844" -MONDO:0019319 "A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings." "SCTID:398723007 UMLS:C0362030 ICD10:Q82.5 NCIT:C4674 Orphanet:79467" -MONDO:0013957 "A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG)." "UMLS:C3808589 ICD10:D84.8 Orphanet:319600 OMIM:614893" -MONDO:0018861 "An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive." "UMLS:C4305104 ICD10:Q87.8 SCTID:718880003 Orphanet:50812 UMLS:CN205183" +MONDO:0019319 "A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings." "SCTID:398723007 UMLS:C0362030 NCIT:C4674 Orphanet:79467 ICD10CM:Q82.5" +MONDO:0013957 "A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG)." "ICD10CM:D84.8 UMLS:C3808589 Orphanet:319600 OMIM:614893" +MONDO:0018861 "An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive." "ICD10CM:Q87.8 UMLS:C4305104 SCTID:718880003 Orphanet:50812 UMLS:CN205183" http://identifiers.org/hgnc/10955 MONDO:0003888 "A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components." "DOID:6474 NCIT:C6539 UMLS:C1333008" MONDO:0015323 "Orphanet:138059 UMLS:CN199294" -MONDO:0001860 "DOID:14026 ICD10:D52.9 ICD9:281.2 UMLS:C0151482 ICD10:D52 SCTID:85649008" -MONDO:0019335 "Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." "ICD10:E70.1 Orphanet:79651" +MONDO:0001860 "DOID:14026 ICD9:281.2 UMLS:C0151482 SCTID:85649008" +MONDO:0019335 "Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." "Orphanet:79651 ICD10CM:E70.1" ENVO:01001125 "An ice is an environmental material which is either frozen or which is maintained in a solid state by gravitational forces or pressure." -MONDO:0007288 "Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene." "OMIM:116600 GARD:0010234 Orphanet:98993 Orphanet:98994 Orphanet:91492 DOID:0110229 ICD10:Q12.0" +MONDO:0007288 "Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene." "OMIM:116600 GARD:0010234 Orphanet:98993 Orphanet:98994 Orphanet:91492 DOID:0110229" GO:1901716 "Any process that stops, prevents or reduces the frequency, rate or extent of gamma-aminobutyric acid catabolic process." MONDO:0000479 "A dystonia that affects two or more adjacent parts of the body." "ICD9:333.89 UMLS:C1997740 DOID:0050838 SCTID:427945008" -MONDO:0014073 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene." "DOID:0110450 UMLS:C3554649 OMIM:615184 ICD10:I42.0" +MONDO:0014073 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene." "DOID:0110450 ICD10CM:I42.0 UMLS:C3554649 OMIM:615184" MONDO:0020271 "Orphanet:98701" MONDO:0044999 "A disease or disorder that involves the scalp." "SCTID:238922006 UMLS:C0406629" MONDO:0023054 "Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months." "GARD:0003123 SCTID:83886009 NCIT:C116724 UMLS:C0270898" @@ -14260,7 +14256,7 @@ MONDO:0024905 "Diseases of birds not considered poultry, therefore usually found GO:0045595 "Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features." GO:0006757 "The process of introducing a phosphate group into ADP, adenosine diphosphate, to produce ATP." MONDO:0017029 "Langerhans cell histiocytosis that occurs during adulthood." "NCIT:C114929 UMLS:C3900100 Orphanet:264750" -MONDO:0011225 "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." "DOID:0060006 GARD:0009987 DOID:0090012 ICD10:D81.1 Orphanet:275 OMIM:602450 OMIM:603554 SCTID:715982006" +MONDO:0011225 "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." "DOID:0060006 GARD:0009987 DOID:0090012 ICD10CM:D81.1 Orphanet:275 OMIM:602450 OMIM:603554 SCTID:715982006" MONDO:0015322 HP:0010295 "Absence or underdevelopment of the tongue." "UMLS:C4023916 UMLS:C4280384" MONDO:0001861 "SCTID:93948004 DOID:14032 UMLS:C0153495" @@ -14278,31 +14274,31 @@ HP:0012826 "Having a medium degree of severity. For quantitative traits, a devia UBERON:0006905 MONDO:0024288 "A disease characterized by elevated level of the pigment bilirubin in the blood." "SCTID:14783006 UMLS:C0020433" MONDO:0023232 "An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available." "SCTID:60812006 UMLS:C0264856 NCIT:C97055 GARD:0006502" -MONDO:0012211 "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies." "GARD:0009832 DOID:0080558 OMIM:609180 SCTID:724096007 UMLS:C1836669 Orphanet:79323 NCIT:C126872 MESH:C535744 ICD10:E77.8" +MONDO:0012211 "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies." "MESH:C535744 SCTID:724096007 UMLS:C1836669 Orphanet:79323 GARD:0009832 ICD10CM:E77.8 NCIT:C126872 DOID:0080558 OMIM:609180" http://identifiers.org/hgnc/1529 MONDO:0002742 "A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin." "UMLS:C1332919 NCIT:C36095 DOID:3701" -MONDO:0001444 "A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias." "ICD10:B57.3 KEGG:05142 Orphanet:3386 UMLS:C0348782 NCIT:C84629 DOID:12140 MESH:D014355 EFO:0008559 ICD10:B57.1 ICD10:B57.2 UMLS:C0153125 UMLS:C0348781 UMLS:C0041234 ICD10:B57.5 SCTID:77506005 MedDRA:10001935 ICD10:B57.0 ICD9:086.2 ICD10:B57.4 ICD10:B57" +MONDO:0001444 "A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias." "ICD10CM:B57.0 ICD10CM:B57 KEGG:05142 Orphanet:3386 UMLS:C0348782 NCIT:C84629 DOID:12140 MESH:D014355 EFO:0008559 UMLS:C0153125 UMLS:C0348781 UMLS:C0041234 ICD10CM:B57.2 ICD10CM:B57.5 SCTID:77506005 MedDRA:10001935 ICD9:086.2 ICD10CM:B57.1 ICD10CM:B57.3 ICD10CM:B57.4" http://identifiers.org/hgnc/7892 -MONDO:0009101 "Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene." "OMIM:222300 DOID:0110629 Orphanet:3463 ICD10:E13.8 UMLS:C0043207" -MONDO:0014403 "Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported." "OMIM:615925 SCTID:766817004 Orphanet:314811 ICD10:E34.3" +MONDO:0009101 "Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene." "OMIM:222300 DOID:0110629 Orphanet:3463 UMLS:C0043207" +MONDO:0014403 "Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported." "OMIM:615925 SCTID:766817004 Orphanet:314811 ICD10CM:E34.3" GO:0019098 "The specific behavior of an organism that is associated with reproduction." -MONDO:0007191 "A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." "Orphanet:117 GARD:0000848 OMIM:109650 EFO:0003780 UMLS:C0004943 ICD10:M35.2 ICD9:136.1 MESH:D001528 MedDRA:10004213 DOID:13241 NCIT:C34416 SCTID:310701003" +MONDO:0007191 "A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." "Orphanet:117 GARD:0000848 OMIM:109650 EFO:0003780 UMLS:C0004943 ICD9:136.1 MESH:D001528 MedDRA:10004213 DOID:13241 NCIT:C34416 SCTID:310701003" MONDO:0012641 "OMIM:611242 GARD:0010272" CL:0000630 "A cell whose primary function is to support other cell types." "BTO:0002315" -MONDO:0008231 "A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both." "UMLS:C0030848 ICD10:N48.6 DOID:8616 ICD9:607.85 Orphanet:2870 OMIM:171000" +MONDO:0008231 "A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both." "UMLS:C0030848 DOID:8616 ICD9:607.85 Orphanet:2870 OMIM:171000" PATO:0000052 "A morphological quality inhering in a bearer by virtue of the bearer's ratios of distances between its features (points, edges, surfaces and also holes etc)." MONDO:0010473 "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28." "OMIM:300886 Orphanet:324410 UMLS:C3550913 DOID:0060828" http://identifiers.org/hgnc/6694 SO:0005855 "A collection of related genes." GO:1900403 "OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in negative regulation of cellular amino acid biosynthetic process." CL:4006000 "A fibroblast that is part of the breast." -MONDO:0012090 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21." "DOID:0110570 OMIM:608652 ICD10:H90.3 UMLS:C1837609 Orphanet:90635 MESH:C563885" -MONDO:0018952 "Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine)." "MedDRA:10003094 MESH:D001129 ICD10:T56.8 Orphanet:60014" +MONDO:0012090 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21." "DOID:0110570 OMIM:608652 UMLS:C1837609 Orphanet:90635 MESH:C563885" +MONDO:0018952 "Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine)." "MedDRA:10003094 MESH:D001129 Orphanet:60014 ICD10CM:T56.8" NCBITaxon:12721 "GC_ID:1" PO:0000229 "A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395)." http://identifiers.org/hgnc/4289 UBERON:0006904 -MONDO:0012052 "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3)." "UMLS:C2931005 OMIM:608540 MESH:C535749 ICD10:E77.8 DOID:0080563 SCTID:720941007 Orphanet:79327 GARD:0009838" +MONDO:0012052 "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3)." "UMLS:C2931005 ICD10CM:E77.8 OMIM:608540 MESH:C535749 DOID:0080563 SCTID:720941007 Orphanet:79327 GARD:0009838" MONDO:0021128 "An characteristic of a disease in which the disease is manifested as an isolated feature." UBERON:0013158 CL:2000028 "Any glutamatergic neuron that is part of a cerebellum." @@ -14312,51 +14308,51 @@ MONDO:0001417 "A rare lymphoma that arises from the trachea. Signs and symptoms MONDO:0010245 "DOID:0111006 OMIM:300085 MESH:C564717 GARD:0001462" MONDO:0003291 "A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "DOID:5132 NCIT:C4482 UMLS:C0346064 SCTID:254767008" http://identifiers.org/hgnc/2726 -MONDO:0009417 "This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." "MESH:C543092 Orphanet:2410 ICD10:E29.1 UMLS:C1855859 SCTID:721233005 OMIM:240950 GARD:0000298" +MONDO:0009417 "This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family." "MESH:C543092 Orphanet:2410 UMLS:C1855859 SCTID:721233005 OMIM:240950 ICD10CM:E29.1 GARD:0000298" MONDO:0021241 "A neoplasm (disease) that involves the buccal mucosa." "UMLS:C0345563 SCTID:126802007 NCIT:C4405" MONDO:0012642 "OMIM:611247 MESH:C567073" HP:0000277 "Any abnormality of the mandible, the bone of the lower jaw." "UMLS:C4025870" -MONDO:0007549 "Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." "Orphanet:231568 OMIM:131750 ICD9:757.39 ICD10:Q81.2 SCTID:75875004 GARD:0002139 DOID:0080224" +MONDO:0007549 "Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." "Orphanet:231568 OMIM:131750 ICD9:757.39 ICD10CM:Q81.2 SCTID:75875004 GARD:0002139 DOID:0080224" UBERON:0009662 MONDO:0000514 "A squamous cell carcinoma that involves the bone tissue." "DOID:0050896" MONDO:0007963 "Orphanet:404560 OMIM:155600 Orphanet:618 SCTID:254819008" MONDO:0001426 "A neurofibroma that arises from the posterior mediastinum. Excision is usually curative." "NCIT:C6631 UMLS:C1334674 DOID:12064" UBERON:0007267 MONDO:0010496 "X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted." "UMLS:C0796218 OMIM:300957 Orphanet:457240" -MONDO:0018483 "A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency." "UMLS:C3873302 SCTID:707510005 Orphanet:420259 ICD10:J84.0" +MONDO:0018483 "A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency." "UMLS:C3873302 SCTID:707510005 ICD10CM:J84.0 Orphanet:420259" GO:0051048 "Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a substance from a cell or a tissue." MONDO:0023609 "UMLS:C2931385 GARD:0000171 MESH:C536997" GO:0050982 "The series of events by which a mechanical stimulus is received and converted into a molecular signal." MONDO:0011446 "MESH:C565786 OMIM:604363 UMLS:C1858478" -MONDO:0009134 "Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." "ICD9:285.8 SCTID:68870007 Orphanet:98873 OMIM:224100 GARD:0002001 DOID:0111401 ICD10:D64.4" +MONDO:0009134 "Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." "ICD9:285.8 ICD10CM:D64.4 SCTID:68870007 Orphanet:98873 OMIM:224100 GARD:0002001 DOID:0111401" HP:0011314 "An abnormality of size or shape of the long bones." "UMLS:C4021165" MONDO:0013841 "OMIM:614655 UMLS:C3553381" -MONDO:0010689 "X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype." "SCTID:763400005 DOID:0110212 OMIM:310490 Orphanet:101078 GARD:0001240 ICD10:G60.0" +MONDO:0010689 "X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype." "SCTID:763400005 DOID:0110212 OMIM:310490 ICD10CM:G60.0 Orphanet:101078 GARD:0001240" NCBITaxon:55194 "GC_ID:1" CHEBI:73181 "An EC 1.11.1.* (peroxidases) inhibitor that inhibits the action of L-ascorbate peroxidase (EC 1.11.1.11)." -MONDO:0018929 "ICD10:M85.3 GARD:0010910 UMLS:CN230280 Orphanet:57196" -MONDO:0012726 "Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures." "ICD10:I99 MESH:C567088 ICD9:758.89 GARD:0010889 Orphanet:73229 SCTID:702428000 UMLS:C2673195 OMIM:611773" +MONDO:0018929 "GARD:0010910 UMLS:CN230280 ICD10CM:M85.3 Orphanet:57196" +MONDO:0012726 "Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures." "MESH:C567088 ICD9:758.89 GARD:0010889 Orphanet:73229 SCTID:702428000 UMLS:C2673195 ICD10CM:I99 OMIM:611773" UBERON:0009663 http://identifiers.org/hgnc/6692 -MONDO:0014304 "A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1." "UMLS:C4511962 SCTID:726611001 UMLS:C3810294 ICD10:G11.4 Orphanet:401780 DOID:0110812 OMIM:615685" -MONDO:0010972 "This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present." "Orphanet:2180 MESH:C536461 OMIM:600991 SCTID:721229003 GARD:0005518 ICD10:Q87.8" +MONDO:0014304 "A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1." "ICD10CM:G11.4 UMLS:C4511962 SCTID:726611001 UMLS:C3810294 Orphanet:401780 DOID:0110812 OMIM:615685" +MONDO:0010972 "This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present." "Orphanet:2180 MESH:C536461 OMIM:600991 SCTID:721229003 GARD:0005518 ICD10CM:Q87.8" CHEBI:139589 "A carboxylic acid anion obtained by deprotonation of any retinoid carboxy group." -MONDO:0009222 "Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur." "UMLS:C1856789 OMIM:228250 MESH:C537917 ICD10:Q74.8 Orphanet:1986 GARD:0002285 SCTID:716006003" +MONDO:0009222 "Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur." "UMLS:C1856789 OMIM:228250 MESH:C537917 ICD10CM:Q74.8 Orphanet:1986 GARD:0002285 SCTID:716006003" UBERON:0013156 GO:0045182 "Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome." MONDO:0008063 "MESH:C563533 UMLS:C1834371 OMIM:161470" NCBITaxon:600669 "GC_ID:1" UBERON:0006068 HP:0012234 "Marked decrease in the number of granulocytes." "UMLS:C0702094" -MONDO:0004369 "ICD9:590.9 ICD9:590 ICD10:N15.9 DOID:782" +MONDO:0004369 "ICD9:590.9 ICD9:590 DOID:782" NCBITaxon:55193 "GC_ID:1" -MONDO:0008274 "Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome." "MedDRA:10036120 Orphanet:93276 SCTID:36517007 NCIT:C34610 MESH:D005359 ICD9:756.54 ICD10:Q78.1" +MONDO:0008274 "Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome." "MedDRA:10036120 Orphanet:93276 SCTID:36517007 ICD10CM:Q78.1 NCIT:C34610 MESH:D005359 ICD9:756.54" GO:0030183 "The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity." http://identifiers.org/hgnc/2728 -MONDO:0009660 "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature." "GARD:0003786 ICD10:E76.2 NCIT:C84902 Orphanet:582 DOID:0111392 OMIM:253010 Orphanet:309310 UMLS:C0086652 SCTID:238044004" +MONDO:0009660 "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature." "GARD:0003786 NCIT:C84902 Orphanet:582 DOID:0111392 OMIM:253010 Orphanet:309310 UMLS:C0086652 ICD10CM:E76.2 SCTID:238044004" NCBITaxon:2509494 "GC_ID:1" -MONDO:0000743 "An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." "ICD10:K13.3 NCIT:C3722 SCTID:414952002 MESH:D017733 DOID:0060315 UMLS:C0206186 ICD9:528.6" -MONDO:0010855 "Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." "MESH:C537036 GARD:0000296 ICD10:Q87.2 UMLS:C1838328 Orphanet:2832 SCTID:721075001 OMIM:600269" +MONDO:0000743 "An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." "ICD10CM:K13.3 NCIT:C3722 SCTID:414952002 MESH:D017733 DOID:0060315 UMLS:C0206186 ICD9:528.6" +MONDO:0010855 "Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." "MESH:C537036 GARD:0000296 UMLS:C1838328 ICD10CM:Q87.2 Orphanet:2832 SCTID:721075001 OMIM:600269" MONDO:0001607 "ICD9:202.46 SCTID:93145002 UMLS:C0153831 DOID:12972" GO:1903780 "Any process that stops, prevents or reduces the frequency, rate or extent of cardiac conduction." CL:0000145 "A cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response." @@ -14366,13 +14362,13 @@ HP:0000163 "Abnormality of the oral cavity, i.e., the opening or hollow part of MONDO:0003167 UBERON:0006909 http://identifiers.org/hgnc/4026 -MONDO:0011448 "Orphanet:79083 GARD:0012600 ICD10:E88.1 DOID:0070204 OMIM:604367" +MONDO:0011448 "Orphanet:79083 ICD10CM:E88.1 GARD:0012600 DOID:0070204 OMIM:604367" GO:0031342 "Any process that stops, prevents, or reduces the frequency, rate or extent of cell killing." UBERON:0009668 GO:0035295 "The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts." -MONDO:0017728 "Orphanet:309239 SCTID:238024005 ICD10:E75.0" +MONDO:0017728 "ICD10CM:E75.0 Orphanet:309239 SCTID:238024005" MONDO:0021582 "A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy." "SCTID:402624000 NCIT:C3159 MESH:D007911 OMIM:150900" -MONDO:0012621 "Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." "ICD9:758.39 SCTID:700489002 ICD10:Q93.5 MESH:C567010 Orphanet:94064 OMIM:611102 GARD:0011911" +MONDO:0012621 "Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility." "ICD9:758.39 ICD10CM:Q93.5 SCTID:700489002 MESH:C567010 Orphanet:94064 OMIM:611102 GARD:0011911" PATO:0000387 "A hardness quality of giving little resistance to pressure." CHR:9606-chr10q2 MONDO:0010667 "This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth." "SCTID:719140001 NCIT:C18058 DOID:0060805 OMIM:309610 MESH:C535274 Orphanet:2958 GARD:0004482" @@ -14398,35 +14394,34 @@ MONDO:0017301 "Pericardial and diaphragmatic defect is a rare combination of abs MONDO:0013844 "OMIM:614668 UMLS:C3553403" GO:0072364 "OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter." GO:1990266 "The movement of a neutrophil within or between different tissues and organs of the body." -MONDO:0017729 "Orphanet:309256 ICD10:E75.2" +MONDO:0017729 "Orphanet:309256 ICD10CM:E75.2" CHEBI:32786 "An alpha-amino-acid cation that is the conjugate acid of tyrosine, arising from protonation of the amino group." MONDO:0000082 "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence." "EFO:0004710 UMLS:C0877015 MESH:D056887 SCTID:237113009" MONDO:0019289 "ICD9:709.09 HP:0000953 Orphanet:79375 EFO:0009047 SCTID:49765009" GO:0022853 "Enables the transfer of an ion from one side of a membrane to the other up the solute's concentration gradient. This is carried out by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction." -MONDO:0001605 http://identifiers.org/hgnc/22938 MONDO:0012646 "MESH:C566976 UMLS:C1969811 OMIM:611276" MONDO:0014986 "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene." "UMLS:C4284093 DOID:0111090 OMIM:617244" MONDO:0010249 -MONDO:0001352 "A malignant neoplasm involving the round ligament of uterus." "UMLS:C0346867 DOID:11748 SCTID:188204000 ICD10:C57.2 ICD9:183.5" +MONDO:0001352 "A malignant neoplasm involving the round ligament of uterus." "UMLS:C0346867 DOID:11748 SCTID:188204000 ICD9:183.5" MONDO:0003047 "An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis." "UMLS:C1334364 NCIT:C6461 DOID:4553" GO:0002824 "Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata." GO:0002893 "Any process that stops, prevents, or reduces the frequency, rate, or extent of type II hypersensitivity." CHR:9606-chr22q1 UBERON:0007005 -MONDO:0001603 "DOID:12958 HP:0030003 UMLS:C0155197 ICD10:H02.23 ICD9:374.21" +MONDO:0001603 "DOID:12958 HP:0030003 UMLS:C0155197 ICD9:374.21" UBERON:0004508 -MONDO:0001132 "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual." "ICD10:F65.52 SCTID:59394009 ICD9:302.84 NCIT:C94358 MESH:D012448 DOID:10817" +MONDO:0001132 "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual." "SCTID:59394009 ICD9:302.84 NCIT:C94358 MESH:D012448 ICD10CM:F65.52 DOID:10817" MONDO:0040872 "A form of primary polydipsia not caused by underlying psychiatric symptoms." MONDO:0018080 "OBSOLETE. Rare germ cell tumor." "SCTID:402878003 Orphanet:3399" GO:1900017 "Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response." NCBITaxon:103829 "GC_ID:1" -MONDO:0017726 "ICD10:E75.0 UMLS:C1848914 Orphanet:309192" -MONDO:0005917 "A disease involving the placenta." "ICD10:O43.9 EFO:0007441 NCIT:C35169 ICD9:646.9 ICD9:656.70 ICD10:O43.90 GARD:0007402 MESH:D011248 NCIT:C26857 NCIT:C34941 MESH:D010922 SCTID:125586008 SCTID:173300003 DOID:780 ICD10:O43" +MONDO:0017726 "ICD10CM:E75.0 UMLS:C1848914 Orphanet:309192" +MONDO:0005917 "A disease involving the placenta." "NCIT:C35169 EFO:0007441 ICD9:646.9 ICD10CM:O30-O48 ICD9:656.70 GARD:0007402 MESH:D011248 NCIT:C26857 NCIT:C34941 MESH:D010922 SCTID:125586008 SCTID:173300003 DOID:780" UBERON:0008202 http://identifiers.org/hgnc/23038 MONDO:0000406 -MONDO:0001604 "DOID:12959 ICD10:H02.2 ICD9:374.2 ICD10:H02.20 ICD9:374.20 SCTID:60735000 UMLS:C0152226" +MONDO:0001604 "ICD10CM:H02.2 DOID:12959 ICD9:374.2 ICD9:374.20 SCTID:60735000 UMLS:C0152226" MONDO:0012647 MONDO:0006288 "A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity." "ICDO:8700/3 SCTID:21851000119103 NCIT:C4220 UMLS:C0334419 EFO:1000348 DOID:0080347" GO:0070875 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving glycogen." @@ -14434,38 +14429,38 @@ HP:0030824 "Change in the color of the fundus from red in the dark-adapted state MONDO:0007960 CL:3000000 "A ciliated epithelial cell of the esophagus." MONDO:0012649 -MONDO:0010842 "Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." "OMIM:600195 ICD10:Q27.8 Orphanet:2451 MESH:C563977 SCTID:699301008 DOID:0050792" +MONDO:0010842 "Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." "OMIM:600195 Orphanet:2451 MESH:C563977 SCTID:699301008 DOID:0050792 ICD10CM:Q27.8" MONDO:0000404 UBERON:0004509 MONDO:0013846 "OMIM:614670" MONDO:0003166 -MONDO:0001048 "A granuloma located on the orbit of the eye." "NCIT:C3653 SCTID:72776003 UMLS:C0155262 ICD9:376.11 ICD10:H05.11 DOID:10499" -MONDO:0011063 "Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia." "GARD:0002682 MESH:C536180 OMIM:601375 ICD10:Q82.8 UMLS:C1832411 Orphanet:1808" +MONDO:0001048 "A granuloma located on the orbit of the eye." "NCIT:C3653 SCTID:72776003 UMLS:C0155262 ICD9:376.11 DOID:10499" +MONDO:0011063 "Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia." "GARD:0002682 ICD10CM:Q82.8 MESH:C536180 OMIM:601375 UMLS:C1832411 Orphanet:1808" MONDO:0043969 "A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night." "MESH:D020183 UMLS:C0393777 SCTID:230500006 EFO:1001772" HP:0025085 "Passage of many stools containing blood." UBERON:0008203 -MONDO:0002406 "An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis." "EFO:1000636 NCIT:C2983 MESH:D003872 ICD10:L30.9 DOID:2723 ICD9:692.9 SCTID:43116000 UMLS:C0011603" -MONDO:0019605 "Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG." "ICD10:N03.6 Orphanet:91137 GARD:0012741" +MONDO:0002406 "An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis." "EFO:1000636 NCIT:C2983 MESH:D003872 ICD9:692.9 DOID:2723 SCTID:43116000 ICD10CM:L20-L30 UMLS:C0011603" +MONDO:0019605 "Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG." "ICD10CM:N03.6 Orphanet:91137 GARD:0012741" MONDO:0000777 "A allergic disease that involves the digestive tract." "DOID:0060502" http://identifiers.org/hgnc/8820 UBERON:0003304 MONDO:0100083 "This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL." "OMIM:601399" http://identifiers.org/hgnc/17142 UBERON:0005965 -MONDO:0014221 "Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." "OMIM:615512 ICD10:D55.2 UMLS:C1860808 SCTID:234405009 ICD9:282.3 MESH:C566029 DOID:0050884 NCIT:C131652 GARD:0005287 Orphanet:868" +MONDO:0014221 "Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." "OMIM:615512 UMLS:C1860808 ICD10CM:D55.2 SCTID:234405009 ICD9:282.3 MESH:C566029 DOID:0050884 NCIT:C131652 GARD:0005287 Orphanet:868" MONDO:0007957 "OMIM:155200" MONDO:0002666 "A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern." "NCIT:C5720 DOID:3497 UMLS:C1335317" UBERON:0006063 http://identifiers.org/hgnc/18340 MONDO:0022418 -MONDO:0016283 "Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver." "SCTID:763771009 ONCOTREE:CELI ICD10:C53.0 UMLS:CN201073 ICD10:C53.1 Orphanet:213807 UMLS:C4289817 NCIT:C128047 ICD10:C53.8" +MONDO:0016283 "Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver." "SCTID:763771009 ONCOTREE:CELI UMLS:CN201073 ICD10CM:C53.1 ICD10CM:C53.0 Orphanet:213807 UMLS:C4289817 ICD10CM:C53.8 NCIT:C128047" UBERON:0002106 -MONDO:0015346 "Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures." "ICD10:G40.3 SCTID:716278005 Orphanet:139431 UMLS:CN199399 UMLS:C4274731" +MONDO:0015346 "Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures." "SCTID:716278005 Orphanet:139431 UMLS:CN199399 UMLS:C4274731 ICD10CM:G40.3" http://identifiers.org/hgnc/22947 http://identifiers.org/hgnc/23044 -MONDO:0015591 "Orphanet:163903 ICD10:G13.1" -MONDO:0002022 "A disease that involves the orbital region." "ICD10:H00.H59 ICD9:362.10 SCTID:371409005 DOID:1492 ICD10:H35.00" -MONDO:0001490 "A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene." "DOID:12318 ICD9:371.53 SCTID:45283008 UMLS:C0018179 ICD10:H18.53 MESH:D003317 NCIT:C34651" +MONDO:0015591 "Orphanet:163903 ICD10CM:G13.1" +MONDO:0002022 "A disease that involves the orbital region." "ICD10CM:H00-H59 ICD9:362.10 SCTID:371409005 DOID:1492 ICD10CM:H00-H05" +MONDO:0001490 "A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene." "DOID:12318 ICD9:371.53 SCTID:45283008 UMLS:C0018179 MESH:D003317 NCIT:C34651 ICD10CM:H18.53" http://identifiers.org/hgnc/5227 FOODON:03460177 "http://www.langual.org/langual_thesaurus.asp?termid=H0177" UBERON:0013162 @@ -14473,19 +14468,19 @@ MONDO:0021219 MONDO:0024332 "Allergic rhinitis caused by indoor allergens and lasting year round." "SCTID:446096008 NCIT:C92189 UMLS:C0035457" MONDO:0023616 UBERON:0003303 -MONDO:0000690 "Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning." "MESH:D057215 DOID:0060163 SCTID:83482000 ICD10:F45.22" +MONDO:0000690 "Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning." "MESH:D057215 DOID:0060163 ICD10CM:F45.22 SCTID:83482000" UBERON:0003569 UBERON:0005966 http://identifiers.org/hgnc/2995 CHEBI:22314 MONDO:0008073 "A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." "SCTID:445503007 GARD:0006806 UMLS:C1835934 UMLS:C4054550 OMIM:609886 Orphanet:209886 NCIT:C123172 OMIM:162000 EFO:0008618 MESH:C563693 UMLS:CN239214 OMIM:603860" -MONDO:0002815 "The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness." "UMLS:C0155686 ICD9:422.99 DOID:3951 NCIT:C35206 ICD9:422.90 ICD10:I40 ICD9:422 ICD10:I40.9 SCTID:46701001" +MONDO:0002815 "The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness." "UMLS:C0155686 DOID:3951 ICD9:422.99 NCIT:C35206 ICD9:422.90 ICD10CM:I40 ICD9:422 SCTID:46701001" MONDO:0022417 "MESH:C537050" NCBITaxon:7180 "GC_ID:1" -MONDO:0015197 "Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated." "Orphanet:1054 ICD10:Q25.4 UMLS:CN197542 ICD9:747.29 GARD:0000670 SCTID:54160000" +MONDO:0015197 "Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated." "Orphanet:1054 ICD10CM:Q25.4 UMLS:CN197542 ICD9:747.29 GARD:0000670 SCTID:54160000" http://identifiers.org/hgnc/31582 GO:0001887 "The chemical reactions and pathways involving compounds that contain selenium, such as selenocysteine." -MONDO:0005751 "An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses." "UMLS:C0032238 ICD9:074.1 SCTID:83264000 MESH:D011000 ICD10:B33.0 DOID:10882 EFO:0007259" +MONDO:0005751 "An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses." "UMLS:C0032238 ICD10CM:B33.0 ICD9:074.1 SCTID:83264000 MESH:D011000 DOID:10882 EFO:0007259" GO:0050954 "The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process." UBERON:0002105 MONDO:0021944 "A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception." "UMLS:C2732267 OMIMPS:609129 SCTID:443805006 OMIM:609129 UMLS:C1852271 MESH:C538268 NCIT:C116364 GARD:0009274" @@ -14494,9 +14489,9 @@ UBERON:0004768 MONDO:0044304 "Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017})." "Orphanet:508523 OMIM:617384 UMLS:C4479270" MONDO:0020977 "An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue." "ICD9:601.8 NCIT:C26789 SCTID:61500009 UMLS:C0018204" PATO:0000608 "A morphological quality inhering in a bearer by virtue of the bearer's affording blocked passage or view." -MONDO:0001367 "Chronic form of congestive splenomegaly." "ICD9:289.51 SCTID:191382009 DOID:11787 ICD10:D73.2 UMLS:C0398661" +MONDO:0001367 "Chronic form of congestive splenomegaly." "ICD9:289.51 SCTID:191382009 ICD10CM:D73.2 DOID:11787 UMLS:C0398661" http://identifiers.org/hgnc/7623 -MONDO:0009480 "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease." "SCTID:721862000 OMIM:608091 GARD:0009455 UMLS:C1855675 OMIM:614465 OMIM:614424 ICD10:Q04.3 OMIM:243910 MESH:C537430 OMIM:614844 OMIM:610188 Orphanet:2318 OMIM:612285" +MONDO:0009480 "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease." "SCTID:721862000 OMIM:608091 GARD:0009455 UMLS:C1855675 OMIM:614465 OMIM:614424 ICD10CM:Q04.3 OMIM:243910 MESH:C537430 OMIM:614844 OMIM:610188 Orphanet:2318 OMIM:612285" MONDO:0100163 "A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms." "DOID:0080711 NCIT:C172127" UBERON:0013161 UBERON:0002109 @@ -14505,16 +14500,16 @@ CHEBI:22313 http://identifiers.org/hgnc/6423 UBERON:0006061 GO:0044427 "OBSOLETE. Any constituent part of a chromosome, a structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information." -MONDO:0001665 "A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear." "UMLS:C0152944 ICD10:A21.1 ICD9:021.3 SCTID:73363000 DOID:13226" +MONDO:0001665 "A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear." "UMLS:C0152944 ICD9:021.3 SCTID:73363000 ICD10CM:A21.1 DOID:13226" ENVO:09000004 "The amount of a carbon atom when measured in environmental material." MONDO:0003998 "An adenoma that arises from the vagina and is characterized by a tubular architectural pattern." "NCIT:C40257 DOID:6809 UMLS:C1519932" MONDO:0010240 UBERON:0004769 MONDO:0100196 "A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree." -MONDO:0007230 "Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants." "SCTID:720573009 GARD:0000918 MESH:C536242 OMIM:113477 ICD10:Q87.1 Orphanet:1292 UMLS:C1862082" +MONDO:0007230 "Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants." "ICD10CM:Q87.1 GARD:0000918 MESH:C536242 OMIM:113477 Orphanet:1292 UMLS:C1862082 SCTID:720573009" GO:0098960 "Neurotransmitter receptor activity occuring in the postsynaptic membrane during synaptic transmission." -MONDO:0010995 "Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene." "GARD:0001247 UMLS:C0270913 OMIM:601098 DOID:0110151 Orphanet:101083 MESH:C537984 ICD10:G60.0" -MONDO:0001296 "An instance of night blindness that is acquired during the lifetime of the individual." "SCTID:53808001 ICD9:368.62 DOID:11491 ICD10:H53.62" +MONDO:0010995 "Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene." "ICD10CM:G60.0 GARD:0001247 OMIM:601098 UMLS:C0270913 Orphanet:101083 DOID:0110151 MESH:C537984" +MONDO:0001296 "An instance of night blindness that is acquired during the lifetime of the individual." "SCTID:53808001 ICD9:368.62 ICD10CM:H53.62 DOID:11491" MONDO:0021217 GO:0009087 "The chemical reactions and pathways resulting in the breakdown of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins." http://identifiers.org/hgnc/2731 @@ -14522,21 +14517,21 @@ MONDO:0009250 "OMIM:229650" UBERON:0005702 http://identifiers.org/hgnc/24245 UBERON:0013160 -MONDO:0012188 "Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "OMIM:609055 ICD10:E75.4 GARD:0006618 Orphanet:228357 Orphanet:79264 MESH:C537953 DOID:0110733" +MONDO:0012188 "Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "OMIM:609055 ICD10CM:E75.4 GARD:0006618 Orphanet:228357 Orphanet:79264 MESH:C537953 DOID:0110733" UBERON:0002108 MONDO:0015933 "A non-syndromic urogenital tract malformation that involves the male organism." "Orphanet:182121" MONDO:0006235 "An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast." "EFO:1000284 NCIT:C3474 ICDO:9580/0 UMLS:C0085167 ICD9:215.9 MESH:D016586 ONCOTREE:GCT SCTID:404035005 DOID:2411 GARD:0009618 MESH:C535558" GO:1903048 "Any process that modulates the frequency, rate or extent of acetylcholine-gated cation channel activity." MONDO:0022414 "Orphanet:1526 GARD:0000124" -MONDO:0011631 "Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." "UMLS:C1853733 SCTID:719975002 DOID:0111028 GARD:0010094 Orphanet:139491 ICD10:E83.1 MESH:C537249 OMIM:606069" +MONDO:0011631 "Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." "UMLS:C1853733 SCTID:719975002 DOID:0111028 ICD10CM:E83.1 GARD:0010094 Orphanet:139491 MESH:C537249 OMIM:606069" http://identifiers.org/hgnc/3097 UBERON:0002107 -MONDO:0012688 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene." "OMIM:611544 UMLS:C1969062 Orphanet:98991 Orphanet:91492 DOID:0110270 MESH:C566923 ICD10:Q12.0" +MONDO:0012688 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene." "OMIM:611544 UMLS:C1969062 Orphanet:98991 Orphanet:91492 DOID:0110270 MESH:C566923" MONDO:0021503 "A benign neoplasm that involves the gall bladder." "UMLS:C0345912 NCIT:C4440 SCTID:92117002 DOID:0080640" -MONDO:0008827 "Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED." "SCTID:254065005 ICD9:756.9 ICD10:Q77.7 OMIM:208230 GARD:0009184 Orphanet:1159 DOID:0090004 MESH:C535387" +MONDO:0008827 "Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED." "SCTID:254065005 ICD9:756.9 ICD10CM:Q77.7 OMIM:208230 GARD:0009184 Orphanet:1159 DOID:0090004 MESH:C535387" MONDO:0021216 UBERON:0003300 -MONDO:0010848 "Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." "SCTID:719302009 GARD:0004953 UMLS:C0752123 ICD10:G11.2 Orphanet:98766 OMIM:600224 DOID:0050882" +MONDO:0010848 "Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression." "SCTID:719302009 GARD:0004953 ICD10CM:G11.2 UMLS:C0752123 Orphanet:98766 OMIM:600224 DOID:0050882" CHEBI:76773 "An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of a carboxylic ester hydrolase (EC 3.1.1.*)." MONDO:0011440 "OMIM:604329" UBERON:0003566 @@ -14562,8 +14557,8 @@ MONDO:0030953 "OMIM:619184" ENVO:01001367 "A material transport process during which solid or liquid particles are directly introduced into a volume of gas." http://identifiers.org/hgnc/17146 MONDO:0010242 "UMLS:C1848171 GARD:0002293 MESH:C537921 OMIM:300073 Orphanet:994" -MONDO:0020019 "Orphanet:98039" -MONDO:0016381 "Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." "MESH:C538389 SCTID:201163007 OMIM:307150 GARD:0002865 OMIM:145701 ICD10:Q84.2 Orphanet:2222 OMIM:145700" +MONDO:0020019 "ICD10CM:Q38-Q45 Orphanet:98039" +MONDO:0016381 "Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." "MESH:C538389 ICD10CM:Q84.2 SCTID:201163007 OMIM:307150 GARD:0002865 OMIM:145701 Orphanet:2222 OMIM:145700" HP:0000929 "An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones." "UMLS:C0235942" NCBITaxon:2560602 "GC_ID:1" GO:0048738 "The process whose specific outcome is the progression of cardiac muscle over time, from its formation to the mature structure." @@ -14571,7 +14566,7 @@ GO:0000272 "The chemical reactions and pathways resulting in the breakdown of a UBERON:0009661 UBERON:0003565 MONDO:0009629 "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene." "UMLS:C0432242 Orphanet:1425 UMLS:C4012146 OMIM:251450" -MONDO:0007167 "Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." "SCTID:725141006 MESH:C535396 GARD:0009287 OMIM:108720 ICD10:Q78.8 Orphanet:1190" +MONDO:0007167 "Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." "ICD10CM:Q78.8 SCTID:725141006 MESH:C535396 GARD:0009287 OMIM:108720 Orphanet:1190" MONDO:0007954 UBERON:0002367 GO:0035082 "The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements." @@ -14597,11 +14592,11 @@ UBERON:0002104 MONDO:0003874 "A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern." "DOID:6408 UMLS:C1335178 NCIT:C6256" GO:0008652 "The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents." MONDO:0700124 "Chromosomal disorder in which chromosome 21 is affected." -MONDO:0007610 "Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." "GARD:0002324 Orphanet:2026 ICD10:L68.8 MESH:C565016 OMIM:135400 SCTID:716008002" +MONDO:0007610 "Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." "GARD:0002324 Orphanet:2026 MESH:C565016 OMIM:135400 SCTID:716008002 ICD10CM:L68.8" MONDO:0010244 "UMLS:C1848140 OMIM:300082" MONDO:0003391 "An alveolar soft part sarcoma arising from the vulva." "NCIT:C40320 DOID:5313 UMLS:C1520069" MONDO:0004927 "A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction." "DOID:9939 NCIT:C98968 ICD9:375.43" -MONDO:0010409 "X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome." "Orphanet:85324 MESH:C567474 OMIM:300709 UMLS:C2678039 DOID:0060813 ICD10:Q87.8" +MONDO:0010409 "X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome." "Orphanet:85324 MESH:C567474 OMIM:300709 UMLS:C2678039 DOID:0060813 ICD10CM:Q87.8" MONDO:0006487 "An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present." "EFO:1000617 UMLS:C1519912 NCIT:C40261" GO:0070857 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids." MONDO:0006810 "A finding characterized by increased cerebrospinal fluid pressure within the skull." "DOID:9428 MESH:D019586 UMLS:C0151740 NCIT:C84791 MedDRA:10022764 EFO:1000992" @@ -14621,10 +14616,10 @@ UBERON:0004766 MONDO:0008055 "SCTID:57938005 Orphanet:614 OMIM:160800 ICD9:359.29" CHEBI:15966 "An optically active form of glutamic acid having D-configuration." http://identifiers.org/hgnc/2736 -MONDO:0013780 "A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23." "ICD10:H35.5 Orphanet:791 UMLS:C3281002 OMIM:614494 DOID:0110385" +MONDO:0013780 "A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23." "Orphanet:791 UMLS:C3281002 OMIM:614494 DOID:0110385" MONDO:0020014 "UMLS:CN206947 Orphanet:98027" MONDO:0015796 "A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological)." "Orphanet:178320 MESH:D055371 NCIT:C155766 SCTID:315345002 EFO:0004610 MedDRA:10069351" -MONDO:0016531 "Orphanet:238 ICD10:Q45.8" +MONDO:0016531 "Orphanet:238 ICD10CM:Q45.8" http://identifiers.org/hgnc/11048 MONDO:0004486 "An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present." "DOID:8177 UMLS:C1516405 NCIT:C40232" CL:0000696 "A cell that stores and secretes pancreatic polypeptide hormone." "FMA:83409 FMA:62938" @@ -14634,11 +14629,11 @@ MONDO:0016797 "Orphanet:254807 UMLS:CN202053" GO:0051962 "Any process that activates, maintains or increases the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue." UBERON:0002364 UBERON:0003562 -MONDO:0019159 "Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma." "NCIT:C27044 ICD10:I42.3 SCTID:449829009 MedDRA:10052841 Orphanet:75566 DOID:396" -MONDO:0011016 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31." "DOID:0110750 OMIM:601208 ICD10:E10 MESH:C563371 UMLS:C1832605" -MONDO:0017994 "ICD10:E66.8 Orphanet:329249 UMLS:CN204200" -MONDO:0005566 "A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." "ICD10:P96.1 DOID:9828 UMLS:C0027609 ICD9:760.8 NCIT:C87101 ICD9:779.5 SCTID:414819007 EFO:0005799 MESH:D009357" -MONDO:0020399 "Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome." "ICD10:Q23.2 UMLS:C3165203 SCTID:449270002 Orphanet:99058 ICD9:746.89" +MONDO:0019159 "Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma." "NCIT:C27044 SCTID:449829009 MedDRA:10052841 ICD10CM:I42.3 Orphanet:75566 DOID:396" +MONDO:0011016 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31." "DOID:0110750 OMIM:601208 MESH:C563371 UMLS:C1832605" +MONDO:0017994 "Orphanet:329249 ICD10CM:E66.8 UMLS:CN204200" +MONDO:0005566 "A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." "DOID:9828 UMLS:C0027609 ICD9:760.8 NCIT:C87101 ICD9:779.5 EFO:0005799 SCTID:414819007 MESH:D009357" +MONDO:0020399 "Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome." "UMLS:C3165203 SCTID:449270002 ICD10CM:Q23.2 Orphanet:99058 ICD9:746.89" UBERON:0001166 UBERON:0002363 UBERON:0035831 @@ -14650,15 +14645,15 @@ GO:0061311 "Any series of molecular signals initiated by the binding of a recept CHEBI:138675 "Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa)." UBERON:0003561 HP:0032309 "Any deviation from the normal cell count per volume of granulocytes in the blood circulation." -MONDO:0015350 "17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." "UMLS:CN199408 SCTID:719583002 OMIM:613675 UMLS:C4304642 ICD10:Q92.3 Orphanet:139474" +MONDO:0015350 "17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." "UMLS:CN199408 SCTID:719583002 OMIM:613675 UMLS:C4304642 OMIM:618874 Orphanet:139474" MONDO:0015332 "Orphanet:139030 UMLS:CN199362" MONDO:0003959 "A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity." "UMLS:C1511316 DOID:6657 NCIT:C40356" MONDO:0017995 "UMLS:CN204201 Orphanet:329252" MONDO:0015598 -MONDO:0012072 "Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant." "DOID:0070207 SCTID:725035001 OMIM:608600 ICD10:E88.1 GARD:0012598 Orphanet:79084" +MONDO:0012072 "Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant." "ICD10CM:E88.1 DOID:0070207 SCTID:725035001 OMIM:608600 GARD:0012598 Orphanet:79084" UBERON:0001165 UBERON:0004760 -MONDO:0005298 "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." "DOID:11476 SCTID:64859006 OMIM:166710 ICD9:733.0 MESH:D010024 NCIT:C3298 ICD10:M81.0 EFO:0003882 ICD9:733.00 ICD9:733.09 GARD:0011932 MESH:D015663 UMLS:C0029458 ICD10:M81" +MONDO:0005298 "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." "DOID:11476 ICD10CM:M81 SCTID:64859006 OMIM:166710 ICD9:733.0 MESH:D010024 NCIT:C3298 EFO:0003882 ICD9:733.00 GARD:0011932 ICD9:733.09 MESH:D015663 UMLS:C0029458" http://identifiers.org/hgnc/15840 MONDO:0020016 "Orphanet:98033 UMLS:CN206949" UBERON:0003564 @@ -14668,7 +14663,7 @@ MONDO:0100226 "A disorder in which a series of complex behaviors are initiated d MONDO:0022859 "A congenital anatomic anomaly in which the heart has only two chambers." "SCTID:81990004 ICD9:745.7 UMLS:C0152238 GARD:0006193 NCIT:C124591" NCBITaxon:181088 "GC_ID:1" CHEBI:35623 "A drug used to prevent seizures or reduce their severity." -MONDO:0022673 "MESH:C538284 GARD:0001144" +MONDO:0022673 "MESH:C538284 GARD:0001144 OMIM:601286" MONDO:0016795 "UMLS:CN202051 Orphanet:254793" GO:0033144 "Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway." MONDO:0021130 "An acquired metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process." @@ -14676,20 +14671,20 @@ GO:0032869 "Any process that results in a change in state or activity of a cell UBERON:0002366 MONDO:0019292 "Orphanet:79378 UMLS:CN227616" http://identifiers.org/hgnc/905 -MONDO:0010876 "Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980." "GARD:0000754 UMLS:C1838206 OMIM:600360 SCTID:723500009 Orphanet:1115 MESH:C536840 ICD10:Q84.8" +MONDO:0010876 "Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980." "GARD:0000754 UMLS:C1838206 OMIM:600360 SCTID:723500009 Orphanet:1115 MESH:C536840 ICD10CM:Q84.8" UBERON:0002100 UPHENO:0001001 UBERON:0034898 GO:0042476 "The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food." -MONDO:0008675 "Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." "OMIM:616266 MESH:C535483 OMIM:277720 ICD10CM:Q87.0 GARD:0006466 Orphanet:2053 NCIT:C98931 DOID:0111604 UMLS:C0265224 SCTID:52616002 ICD10:Q87.0 OMIM:193700" +MONDO:0008675 "Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." "OMIM:616266 MESH:C535483 OMIM:277720 ICD10CM:Q87.0 GARD:0006466 Orphanet:2053 NCIT:C98931 DOID:0111604 UMLS:C0265224 SCTID:52616002 OMIM:193700" MONDO:0015331 "UMLS:CN199361 Orphanet:139027" MONDO:0003989 "A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos." "NCIT:C39990 DOID:6774 ONCOTREE:OPE UMLS:C1514199" CHEBI:33273 "An anion consisting of more than one atom." -MONDO:0021651 "A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits)." "NCIT:C75003 SCTID:84598000 UMLS:C0265553 MESH:C538153" -MONDO:0015597 "DOID:4398 GARD:0012820 Orphanet:163927 SCTID:27520001 NCIT:C34888 SCTID:81271001 MedDRA:10050185 ICD10:L40.3 ICD9:696.1" +MONDO:0021651 "A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits)." "OMIM:610234 ICD10:Q70.0 ICD10:Q70.2 NCIT:C75003 OMIM:186000 GARD:0005087 SCTID:84598000 UMLS:C0265553 Orphanet:93403 OMIM:608180 SCTID:715724002 MESH:C538153" +MONDO:0015597 "ICD10CM:L40.3 DOID:4398 GARD:0012820 Orphanet:163927 SCTID:27520001 NCIT:C34888 SCTID:81271001 MedDRA:10050185 ICD9:696.1" UBERON:0001168 MONDO:0017992 "UMLS:CN237438 Orphanet:329173 OMIM:615895" -MONDO:0013392 "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene." "DOID:0050999 UMLS:C3150998 ICD10:G11.2 Orphanet:284289 OMIM:613728" +MONDO:0013392 "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene." "DOID:0050999 UMLS:C3150998 ICD10CM:G11.2 Orphanet:284289 OMIM:613728" UBERON:0004761 UBERON:0003563 CHEBI:26739 "Sphingolipids are a complex family of compounds that share a common structural feature, a sphingoid base backbone." @@ -14699,14 +14694,14 @@ NCBITaxon:2611352 "GC_ID:1" MONDO:0004007 "A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma." "DOID:6839 UMLS:C1334631 NCIT:C27942" GO:0055088 "Any process involved in the maintenance of an internal steady state of lipid within an organism or cell." http://identifiers.org/hgnc/10947 -MONDO:0016794 "Orphanet:254788 ICD10:G71.3" -MONDO:0010259 "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27." "ICD10:H35.5 UMLS:C3887982 DOID:0110416 GARD:0010389 OMIM:300155" +MONDO:0016794 "ICD10CM:G71.3 Orphanet:254788" +MONDO:0010259 "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27." "UMLS:C3887982 DOID:0110416 GARD:0010389 OMIM:300155" MONDO:0019291 "UMLS:CN227615 Orphanet:79377" UBERON:0002365 http://identifiers.org/hgnc/904 -MONDO:0017010 "Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person." "ICD10:Q99.8 Orphanet:263783 GARD:0005369 MESH:C536732 UMLS:C0795891" -MONDO:0010212 "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene." "DOID:0110845 OMIM:278730 Orphanet:220295 ICD10:Q82.1 MESH:C562591 Orphanet:910 SCTID:68637004 NCIT:C3967 Orphanet:276258" -MONDO:0014692 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene." "UMLS:C4225281 Orphanet:791 ICD10:H35.5 DOID:0110401 OMIM:616562" +MONDO:0017010 "Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person." "Orphanet:263783 ICD10CM:Q99.8 GARD:0005369 MESH:C536732 UMLS:C0795891" +MONDO:0010212 "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene." "DOID:0110845 OMIM:278730 Orphanet:220295 MESH:C562591 ICD10CM:Q82.1 SCTID:68637004 Orphanet:910 NCIT:C3967 Orphanet:276258" +MONDO:0014692 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene." "UMLS:C4225281 Orphanet:791 DOID:0110401 OMIM:616562" NCBITaxon:2697049 "GC_ID:1" NCBITaxon:803 "GC_ID:11 PMID:8240958" UBERON:0001167 @@ -14719,29 +14714,29 @@ MONDO:0044249 "OMIM:171720" UBERON:0002360 MONDO:0020276 "Orphanet:98708 UMLS:CN227845" HP:0001336 "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." "SNOMEDCT_US:17450006 UMLS:C1854302 UMLS:C0027066 MSH:D009207 SNOMEDCT_US:127324008" -MONDO:0004663 "A in situ carcinoma that involves the colon." "DOID:8826 SCTID:92568009 ICD10:D01.0 UMLS:C0154061 NCIT:C3638 ICD9:230.3" -MONDO:0018911 "MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." "ICD10:E11.8 ICD10:E11.9 OMIM:612225 OMIM:125851 OMIM:606394 OMIM:613375 DOID:0050524 OMIM:616511 KEGG:04950 OMIM:610508 MESH:C562772 SCTID:609561005 HP:0004904 OMIM:125850 OMIM:606392 OMIM:600496 UMLS:C0342276 OMIM:609812 NCIT:C114769 OMIM:616329 OMIM:613370 GARD:0003697 Orphanet:552 OMIM:606391" +MONDO:0004663 "A in situ carcinoma that involves the colon." "ICD10CM:D01.0 DOID:8826 SCTID:92568009 UMLS:C0154061 NCIT:C3638 ICD9:230.3" +MONDO:0018911 "MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." "ICD10CM:E11.9 OMIM:612225 OMIM:125851 OMIM:606394 OMIM:613375 DOID:0050524 OMIM:616511 KEGG:04950 OMIM:610508 MESH:C562772 SCTID:609561005 HP:0004904 OMIM:125850 OMIM:606392 OMIM:600496 UMLS:C0342276 OMIM:609812 NCIT:C114769 OMIM:616329 OMIM:613370 GARD:0003697 Orphanet:552 OMIM:606391" CHEBI:83057 "A crustacean metabolite produced by the genus of small planktonic arthropods, Daphnia" http://identifiers.org/hgnc/903 MONDO:0022413 "GARD:0000596" http://identifiers.org/hgnc/8824 GO:1904170 "Any process that modulates the frequency, rate or extent of bleb assembly." MONDO:0016793 "UMLS:CN202050 Orphanet:254776" -MONDO:0010091 "Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly." "OMIM:272430 GARD:0001611 DOID:0080329 ICD10:G90.8 Orphanet:1545 MESH:C536214 SCTID:725097006 Orphanet:157820" +MONDO:0010091 "Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly." "OMIM:272430 GARD:0001611 DOID:0080329 Orphanet:1545 MESH:C536214 SCTID:725097006 Orphanet:157820 ICD10CM:G90.8 OMIM:601378" MONDO:0006907 "A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes." "EFO:1001107 UMLS:C0346005 MESH:D049309 DOID:4322 NCIT:C4468 SCTID:254693008" UBERON:0001162 -MONDO:0010382 "Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." "OMIM:300623 MESH:C564105 SCTID:448045004 DOID:0050879 Orphanet:93256 NCIT:C126566 ICD10:G11.2 UMLS:C1839780" +MONDO:0010382 "Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." "OMIM:300623 MESH:C564105 SCTID:448045004 DOID:0050879 Orphanet:93256 NCIT:C126566 UMLS:C1839780 ICD10CM:G11.2" MONDO:0010484 "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene." "OMIM:300914 DOID:0111740 UMLS:C3806737 Orphanet:90625" -MONDO:0014391 "Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens." "Orphanet:420573 UMLS:C4014617 ICD10:D81.2 OMIM:615897 SCTID:763623001" +MONDO:0014391 "Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens." "ICD10CM:D81.2 Orphanet:420573 UMLS:C4014617 OMIM:615897 SCTID:763623001" MONDO:0021215 UBERON:0011864 MONDO:0005687 "Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans." "EFO:0007189 MESH:D017250" -MONDO:0002728 "An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor." "NCIT:C3808 ICDO:8963/3 DOID:3672 Orphanet:69077 MESH:D018335 UMLS:C0206743 EFO:0005701 OMIM:609322 ICD10:C49.9 OMIM:613325 ONCOTREE:MRT GARD:0007572" +MONDO:0002728 "An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor." "NCIT:C3808 ICDO:8963/3 DOID:3672 ICD10CM:C49.9 Orphanet:69077 MESH:D018335 UMLS:C0206743 EFO:0005701 OMIM:609322 OMIM:613325 ONCOTREE:MRT GARD:0007572" MONDO:0007774 "An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes." "MESH:D012021 OMIM:145290 HP:0001347" -MONDO:0013926 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene." "ICD10:E23.0 OMIM:614858 DOID:0090087 UMLS:C3540450" +MONDO:0013926 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene." "OMIM:614858 DOID:0090087 UMLS:C3540450" MONDO:0020277 PO:0025131 "An anatomical entity that is or was part of a plant." "PO_GIT:224" -MONDO:0001470 "A squamous cell carcinoma arising from the perianal skin." "SCTID:255084004 DOID:12239 ICD10:C44.520 ICD9:173.5 NCIT:C6925 UMLS:C1412037" +MONDO:0001470 "A squamous cell carcinoma arising from the perianal skin." "SCTID:255084004 DOID:12239 ICD9:173.5 NCIT:C6925 UMLS:C1412037" MONDO:0022412 "GARD:0000590" HsapDv:0000088 "Adult stage that refers to an adult who is under 45." MONDO:0016792 "UMLS:CN202049 Orphanet:254767" @@ -14751,7 +14746,7 @@ CHEBI:36970 UBERON:0001161 UBERON:0019258 MONDO:0015594 "Orphanet:163918" -MONDO:0012735 "A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients." "Orphanet:420561 EFO:0009062 ICD10:Q87.2 OMIM:611816 UMLS:C2678486 GARD:0009441 MESH:C567516" +MONDO:0012735 "A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients." "Orphanet:420561 EFO:0009062 ICD10CM:Q87.2 OMIM:611816 UMLS:C2678486 GARD:0009441 MESH:C567516" GO:0042582 "Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid." MONDO:0021214 UBERON:0011865 @@ -14777,23 +14772,23 @@ CHEBI:29988 "An L-alpha-amino acid anion that is the dianion obtained by the dep CHEBI:75603 "Any enzyme inhibitor that interferes with the action of a ligase (EC 6.*.*.*). Ligases are enzymes that catalyse the joining of two molecules with concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate." MONDO:0009398 "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene." "Orphanet:247262 OMIM:239300 UMLS:C1855923 UMLS:CN030519" MONDO:0003841 "A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue." "UMLS:C1332849 DOID:6285 NCIT:C6741" -MONDO:0015593 "Orphanet:163914 ICD10:G13.1" +MONDO:0015593 "ICD10CM:G13.1 Orphanet:163914" GO:0007608 "The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors. This is a neurological process." -MONDO:0016488 "OBSOLETE. Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ]." "Orphanet:231230 ICD10:D58.2" +MONDO:0016488 "OBSOLETE. Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ]." "Orphanet:231230 ICD10CM:D58.2" MONDO:0021213 -MONDO:0015580 "Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported." "Orphanet:1636 ICD10:Q93.5 SCTID:763529005" +MONDO:0015580 "Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported." "Orphanet:1636 SCTID:763529005 ICD10CM:Q93.5" MONDO:0002852 "A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma." "DOID:4050 NCIT:C6606 UMLS:C1334678" http://identifiers.org/hgnc/2993 UBERON:0002361 MONDO:0020279 "Orphanet:98711 UMLS:CN207082" MONDO:0012147 "Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene." "OMIM:608901" MONDO:0020013 "UMLS:CN206946 Orphanet:98026" -MONDO:0014568 "Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies." "Orphanet:444099 DOID:0110818 OMIM:616282 ICD10:G11.4 UMLS:C4225387" -MONDO:0006045 "A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia." "NCIT:C40078 EFO:1000042 Orphanet:398971 UMLS:C1518693 UMLS:CN205034 ICD10:C56 DOID:5304 SCTID:763131005" +MONDO:0014568 "Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies." "Orphanet:444099 ICD10CM:G11.4 DOID:0110818 OMIM:616282 UMLS:C4225387" +MONDO:0006045 "A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia." "NCIT:C40078 ICD10CM:C56 EFO:1000042 Orphanet:398971 UMLS:C1518693 UMLS:CN205034 DOID:5304 SCTID:763131005" http://identifiers.org/hgnc/11049 http://identifiers.org/hgnc/13446 MONDO:0022410 "Orphanet:156165" -MONDO:0006994 "Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome." "ICD10:G57.50 SCTID:47374004 EFO:1001208 MESH:D013641 ICD10:G57.5 GARD:0007733 MedDRA:10043121 UMLS:C0039319 DOID:12526 ICD9:355.5 NCIT:C85183" +MONDO:0006994 "Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome." "ICD10CM:G57.5 SCTID:47374004 EFO:1001208 MESH:D013641 GARD:0007733 MedDRA:10043121 UMLS:C0039319 DOID:12526 ICD9:355.5 NCIT:C85183" MONDO:0022676 MONDO:0006271 "A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma." "UMLS:C1266163 ICDO:9187/3 NCIT:C6474 UMLS:C3814534 EFO:1000327 ONCOTREE:LGCOS" GO:0140110 "A molecular function that controls the rate, timing and/or magnitude of gene transcription. The function of transcriptional regulators is to modulate gene expression at the transcription step so that they are expressed in the right cell at the right time and in the right amount throughout the life of the cell and the organism. Genes are transcriptional units, and include bacterial operons." @@ -14802,20 +14797,20 @@ ENVO:01000271 "Clastic sedimentary rocks are sedimentary rocks that are composed http://identifiers.org/hgnc/5228 CHEBI:32178 HP:0001967 "Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion." "UMLS:C0268747 SNOMEDCT_US:111406002 MSH:C537346" -MONDO:0009349 "The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22." "OMIM:236100 ICD10:Q04.1 Orphanet:2162 DOID:0110881 NCIT:C75476 Orphanet:268936 UMLS:C0079541" +MONDO:0009349 "The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22." "OMIM:236100 Orphanet:2162 DOID:0110881 NCIT:C75476 Orphanet:268936 UMLS:C0079541" UBERON:0011601 GO:0048137 "The meiotic divisions undergone by the primary and secondary spermatocytes to produce haploid spermatids." MONDO:0004590 MONDO:0010219 "OMIM:278900 UMLS:C1848407 MESH:C564730" GO:0090303 "Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury." -MONDO:0001174 "A disorder of the vasculature of the cornea." "DOID:10989 ICD10:H11.41 NCIT:C35116 ICD9:372.74 SCTID:74100001" +MONDO:0001174 "A disorder of the vasculature of the cornea." "DOID:10989 NCIT:C35116 ICD9:372.74 SCTID:74100001" MONDO:0020042 "Orphanet:98087 UMLS:CN206965" MONDO:0000899 HP:0004313 "An abnormally decreased level of immunoglobulin in blood." "SNOMEDCT_US:119250001 UMLS:C4048270 MSH:D000361 UMLS:C0086438" MONDO:0024624 "OBSOLETE. A degenerative disorder that involves the lacrimal gland." "SCTID:91951001 UMLS:C0339119" MONDO:0003174 "A low or high grade astrocytoma that arises in the spinal cord." "UMLS:C0349540 NCIT:C4641 SCTID:254948003 DOID:4863 EFO:1000544" http://identifiers.org/hgnc/12261 -MONDO:0018507 "Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis." "ICD10:G60.0 UMLS:CN237512 Orphanet:423894" +MONDO:0018507 "Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis." "ICD10CM:G60.0 UMLS:CN237512 Orphanet:423894" MONDO:0001993 "A carcinoma that arises from glandular epithelial cells of the seminal vesicle" "UMLS:C1519233 NCIT:C39906 DOID:14545" MONDO:0013652 "Any narcolepsy in which the cause of the disease is a mutation in the MOG gene." "Orphanet:2073 UMLS:C3280266 OMIM:614250" GO:0008456 "Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-galactosamine residues in N-acetyl-alpha-D-galactosaminides." @@ -14827,7 +14822,7 @@ MONDO:0010218 "UMLS:C2749215 Orphanet:393 OMIM:278850 DOID:0111763" MONDO:0044256 "OMIM:227240" MONDO:0020043 "Orphanet:98095" HP:0008373 "UMLS:C4024685" -MONDO:0005831 "Tuberculosis of the lymph node." "MESH:D014388 SCTID:10893003 ICD10:A18.2 EFO:0007350 NCIT:C26896 DOID:4889" +MONDO:0005831 "Tuberculosis of the lymph node." "MESH:D014388 SCTID:10893003 EFO:0007350 NCIT:C26896 DOID:4889" MONDO:0019055 HP:0003111 "Abnormality of the homeostasis (concentration) of a monoatomic ion." "SNOMEDCT_US:237840007 UMLS:C4025654 UMLS:C1704431" MONDO:0014177 "UMLS:C3809464 OMIM:615420" @@ -14837,27 +14832,27 @@ MONDO:0000328 "Abnormally high level of phosphate in the blood." "UMLS:C0085681 MONDO:0019020 "PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders." "MESH:C537163 Orphanet:66624 UMLS:CN205481 GARD:0007312" MONDO:0011416 "MESH:C565809 OMIM:604233 UMLS:C1858672 DOID:0111302 Orphanet:36387" http://identifiers.org/hgnc/10964 -MONDO:0001831 "DOID:13919 UMLS:C0152194 SCTID:47099006 ICD9:367.22 ICD10:H52.21" +MONDO:0001831 "DOID:13919 UMLS:C0152194 SCTID:47099006 ICD9:367.22" NCBITaxon:809 "PMID:11211261 PMID:11211265 GC_ID:11 PMID:25618261 PMID:10319506 PMID:10319462" IAO:8000006 "An ontology module that is extracted from a main ontology module and includes only a subset of entities or axioms."@en -MONDO:0002196 "ICD9:777.6 ICD10:P78.0 UMLS:C0159006 DOID:2073 SCTID:65390006" +MONDO:0002196 "ICD9:777.6 UMLS:C0159006 DOID:2073 ICD10CM:P78.0 SCTID:65390006" MONDO:0019288 "A pigmentation disease that involves the zone of skin." "Orphanet:79374 MESH:D010859 ICD9:709.09 EFO:1000755 DOID:10123" MONDO:0012616 -MONDO:0027451 "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13." "Orphanet:357074 OMIM:617403 ICD10:Q82.8 DOID:0070129" -MONDO:0018685 "Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure." "SCTID:233908008 ICD10:I47.2 Orphanet:45453 UMLS:C0340487" +MONDO:0027451 "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13." "Orphanet:357074 OMIM:617403 DOID:0070129" +MONDO:0018685 "Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure." "SCTID:233908008 ICD10CM:I47.2 Orphanet:45453 UMLS:C0340487" MONDO:0020044 "UMLS:CN229258 Orphanet:98096" CHEBI:24913 "Any lipid formally derived from isoprene (2-methylbuta-1,3-diene), the skeleton of which can generally be discerned in repeated occurrence in the molecule. The skeleton of isoprenoids may differ from strict additivity of isoprene units by loss or shift of a fragment, commonly a methyl group. The class includes both hydrocarbons and oxygenated derivatives." MONDO:0000897 MONDO:0011451 "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene." "Orphanet:1561 DOID:0080357 OMIM:604377" -MONDO:0009856 "An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism." "SCTID:449817000 Orphanet:709 UMLS:C0796012 MESH:C537617 ICD10:Q13.4 DOID:0080201 OMIM:261540 DOID:0070312 NCIT:C123436 GARD:0008422 ICD9:743.44" +MONDO:0009856 "An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism." "SCTID:449817000 Orphanet:709 UMLS:C0796012 MESH:C537617 ICD10CM:Q13.4 DOID:0080201 OMIM:261540 DOID:0070312 NCIT:C123436 GARD:0008422 ICD9:743.44" MONDO:0020689 "A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)" "EFO:0002608 UMLS:C0001849 SCTID:421529006 NCIT:C2864 MESH:D015526 GARD:0008250 ICD9:294.8" http://identifiers.org/hgnc/61 -MONDO:0005372 "The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility." "DOID:12336 ICD9:606.9 ICD10:N46 UMLS:C0021364 EFO:0004248 ICD10:N46.9 MESH:D007248 SCTID:2904007 ICD9:606" +MONDO:0005372 "The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility." "DOID:12336 ICD9:606.9 ICD10CM:N46 UMLS:C0021364 EFO:0004248 MESH:D007248 SCTID:2904007 ICD9:606" GO:0022607 "The aggregation, arrangement and bonding together of a cellular component." -MONDO:0011060 "Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected." "OMIM:611544 OMIM:115660 Orphanet:91492 Orphanet:98991 OMIM:302200 OMIM:610623 OMIM:604307 OMIM:616279 OMIM:610202 UMLS:C1832423 OMIM:614691 OMIM:116300 OMIM:605728 OMIM:605749 OMIM:601202 OMIM:612968 OMIM:116800 OMIM:610425 OMIM:115700 OMIM:601547 OMIM:116400 OMIM:601885 OMIM:615277 OMIM:115800 OMIM:212500 OMIM:115650 OMIM:116600 OMIM:615274 OMIM:613763 OMIM:616509 OMIM:607304 OMIM:116100 OMIM:610019 OMIM:604219 OMIM:116700 OMIM:601371 OMIM:615188 OMIM:605387 OMIM:609376 OMIM:609741 OMIM:115900 ICD10:Q12.0 OMIM:611597 OMIM:611391 OMIM:116200 OMIM:616851 OMIM:600881 OMIM:614422 OMIM:115665" +MONDO:0011060 "Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected." "OMIM:611544 OMIM:115660 Orphanet:91492 Orphanet:98991 OMIM:302200 OMIM:610623 OMIM:604307 OMIM:616279 OMIM:610202 UMLS:C1832423 OMIM:614691 OMIM:116300 OMIM:605728 OMIM:605749 OMIM:601202 OMIM:612968 OMIM:116800 OMIM:610425 OMIM:115700 OMIM:601547 OMIM:116400 OMIM:601885 OMIM:615277 OMIM:115800 OMIM:212500 OMIM:115650 OMIM:116600 OMIM:615274 OMIM:613763 OMIM:616509 OMIM:607304 OMIM:116100 OMIM:610019 OMIM:604219 OMIM:116700 OMIM:601371 OMIM:615188 OMIM:605387 OMIM:609376 OMIM:609741 OMIM:115900 OMIM:611597 OMIM:611391 OMIM:116200 OMIM:616851 OMIM:600881 OMIM:614422 OMIM:115665" UBERON:0019267 MONDO:0017758 "Orphanet:309827 UMLS:CN227203" -MONDO:0012336 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene." "UMLS:C1857853 ICD10:Q12.0 OMIM:609741 Orphanet:91492 Orphanet:98988 MESH:C565725 Orphanet:98991 DOID:0110268" +MONDO:0012336 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene." "UMLS:C1857853 OMIM:609741 Orphanet:91492 Orphanet:98988 MESH:C565725 Orphanet:98991 DOID:0110268" MONDO:0013814 "OMIM:614590" MONDO:0011419 "MESH:C537964 GARD:0008413 UMLS:C1858661 OMIM:604257" MONDO:0019058 "UMLS:CN205539 Orphanet:68385" @@ -14865,23 +14860,23 @@ MONDO:0013521 "A dyskeratosis congenita that has material basis in an autosomal HP:0001618 "An impairment in the ability to produce voice sounds." "SNOMEDCT_US:47004009 MSH:D055154 UMLS:C1527344" MONDO:0032770 "Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene." "OMIM:618470" UBERON:0035815 -MONDO:0010725 "A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." "GARD:0004690 NCIT:C75483 ICD10:Q14.1 OMIM:312700 DOID:0060763 SCTID:86923008 Orphanet:792" +MONDO:0010725 "A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." "GARD:0004690 NCIT:C75483 OMIM:312700 ICD10CM:Q14.1 DOID:0060763 SCTID:86923008 Orphanet:792" GO:0045914 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving catecholamine." SO:0000209 "A primary transcript encoding a ribosomal RNA." MONDO:0044254 "OMIM:221780" GO:0050921 "Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient." GO:0032411 "Any process that activates or increases the activity of a transporter." -MONDO:0020045 "ICD10:G11.3 UMLS:CN227741 Orphanet:98097" +MONDO:0020045 "UMLS:CN227741 Orphanet:98097" MONDO:0012617 "UMLS:C1970195 Orphanet:88616 MESH:C567014 OMIM:611095" MONDO:0000896 HP:0030347 "An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone." "UMLS:C4072892" http://identifiers.org/hgnc/60 -MONDO:0013215 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene." "DOID:0110526 OMIM:613307 ICD10:H90.3 MESH:C567651 UMLS:C2750082" +MONDO:0013215 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene." "DOID:0110526 OMIM:613307 MESH:C567651 UMLS:C2750082" NCBITaxon:1980416 "GC_ID:1" MONDO:0003236 "An adenomyoma characterized by the presence of marked glandular architectural complexity." "NCIT:C6895 UMLS:C1300347 DOID:4993" GO:1901663 "The chemical reactions and pathways resulting in the formation of quinone." MONDO:0017759 "Orphanet:309830 ICD9:270.8 UMLS:C0342685 SCTID:237921002" -MONDO:0008678 "Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)" "MedDRA:10049644 OMIM:194050 GARD:0007891 SCTID:63247009 MESH:D018980 Orphanet:904 ICD9:759.89 UMLS:C0175702 NCIT:C85232 DOID:1928 ICD10:Q87.8" +MONDO:0008678 "Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)" "MedDRA:10049644 OMIM:194050 GARD:0007891 SCTID:63247009 MESH:D018980 Orphanet:904 ICD9:759.89 ICD10CM:Q87.8 UMLS:C0175702 NCIT:C85232 DOID:1928" MONDO:0008311 "Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat." "OMIM:176690 GARD:0004494 SCTID:399947002 ICD9:759.89 MESH:C536422 UMLS:C1261128 Orphanet:2959" MONDO:0019057 MONDO:0011418 "OMIM:604254" @@ -14889,62 +14884,62 @@ MONDO:0013815 "OMIM:614592 UMLS:C3281247 Orphanet:313855 GARD:0010965" GO:0034758 "Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." MONDO:0005005 "A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common." "OMIM:144700 SCTID:254915003 ONCOTREE:CCRCC NCIT:C4033 DOID:4467 EFO:0000349 ICD9:189.0 GARD:0009574 MESH:D002292 Orphanet:319276" CHEBI:35341 "Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene, so may be considered as triterpenoids." -MONDO:0016758 "Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986." "Orphanet:2523 GARD:0003607 UMLS:CN202009 ICD10:G98" -MONDO:0005059 "A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years." "NCIT:C3161 ICDO:9800/3 ICD10:C95.90 ICD9:207.8 DOID:1240 ICD9:208.8 SCTID:93143009 UMLS:C0023418 MESH:D007938 ICD10:C95.9 ICD9:207.80 ICD9:208.9 HP:0001909 ICD10:C95 ICD9:208.80 ICD9:208 ICD9:207 ICD9:208.90 EFO:0000565" +MONDO:0016758 "Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986." "Orphanet:2523 GARD:0003607 UMLS:CN202009 ICD10CM:G98" +MONDO:0005059 "A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years." "ICD9:208 HP:0001909 ICDO:9800/3 NCIT:C3161 MESH:D007938 ICD9:208.90 ICD9:207.80 ICD9:208.80 ICD9:208.8 ICD9:208.9 SCTID:93143009 UMLS:C0023418 ICD9:207.8 EFO:0000565 ICD9:207 DOID:1240" UBERON:0035814 UBERON:0016502 GO:0002523 "The movement of a leukocyte within or between different tissues and organs of the body contributing to an inflammatory response." MONDO:0012618 "OMIM:611096 Orphanet:88616 UMLS:C1970194 MESH:C567013" MONDO:0044253 "OMIM:221760" -MONDO:0018263 "A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies." "ICD9:760.8 ICD10:Q86.8 UMLS:C0432370 Orphanet:370076 SCTID:254249002 UMLS:CN204839" +MONDO:0018263 "A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies." "ICD9:760.8 UMLS:C0432370 Orphanet:370076 ICD10CM:Q86.8 SCTID:254249002 UMLS:CN204839" CHR:9606-chr13q34 NCBITaxon:1535325 "GC_ID:1" UBERON:0019261 -MONDO:0017597 "T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course." "GARD:0012257 NCIT:C9496 Orphanet:300857 ICDO:9688/3 UMLS:C1321547 ONCOTREE:THRLBCL ICD10:C83.3 ICDO:9680/3" +MONDO:0017597 "T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course." "ICD10CM:C83.3 GARD:0012257 NCIT:C9496 Orphanet:300857 ICDO:9688/3 UMLS:C1321547 ONCOTREE:THRLBCL ICDO:9680/3" MONDO:0013816 ECTO:0000726 "An exposure to allergen." -MONDO:0009080 "Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." "Orphanet:71271 ICD10:Q87.2 OMIM:220600 SCTID:723611008 DOID:0090024 MESH:C565647 UMLS:C1857344" +MONDO:0009080 "Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." "ICD10CM:Q87.2 Orphanet:71271 OMIM:220600 SCTID:723611008 DOID:0090024 MESH:C565647 UMLS:C1857344" MONDO:0017756 "UMLS:CN227201 Orphanet:309819" -MONDO:0008750 "Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." "MESH:C537322 GARD:0003604 ICD10:Q87.8 UMLS:C1859910 SCTID:719377004 OMIM:203340 Orphanet:2513" +MONDO:0008750 "Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." "MESH:C537322 GARD:0003604 UMLS:C1859910 ICD10CM:Q87.8 SCTID:719377004 OMIM:203340 Orphanet:2513" MONDO:0000992 "A disease that has its basis in the disruption of the heart's electrical conduction system." "DOID:10273 ICD9:426.6 SCTID:44808001" MONDO:0021232 "A neoplasm (disease) that involves the pineal body." "NCIT:C3328 ONCOTREE:PINT" -MONDO:0010611 "A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." "OMIM:307000 ICD10:Q03.0 GARD:0000434 Orphanet:275543 Orphanet:2182 SCTID:71779008 MESH:C536078" -MONDO:0024302 "A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx." "SCTID:187227006 UMLS:C0348999 ICD10:B83.4" -MONDO:0011136 "Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." "UMLS:C1866423 ICD10:D69.1 GARD:0008345 OMIM:601709 DOID:0111050 Orphanet:220436 MESH:C536260" +MONDO:0010611 "A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." "SCTID:71779008 OMIM:307000 ICD10CM:Q03.0 MESH:C536078 Orphanet:275543 GARD:0000434 Orphanet:2182" +MONDO:0024302 "A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx." "SCTID:187227006 UMLS:C0348999 ICD10CM:B83.4" +MONDO:0011136 "Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." "UMLS:C1866423 GARD:0008345 ICD10CM:D69.1 OMIM:601709 DOID:0111050 Orphanet:220436 MESH:C536260" CL:0002554 "A fibroblast of the lymphatic system." MONDO:0004520 "Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)" "UMLS:C1336096 DOID:8275 NCIT:C7325" MONDO:0012619 "Orphanet:88616 OMIM:611097 MESH:C567012 UMLS:C1970193" MONDO:0021325 "A cancer that involves the thoracic part of esophagus." "UMLS:C0153411 NCIT:C3532 ICD9:150.1 SCTID:187723009" -MONDO:0017842 "Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." "OMIM:606996 OMIM:616307 Orphanet:3156 OMIM:614845 OMIMPS:266900 OMIM:616629 DOID:0050576 MESH:C537580 OMIM:610189 OMIM:609254 UMLS:CN117960 OMIM:606995 ICD10:Q61.5 OMIM:613615 GARD:0000322 OMIM:266900" +MONDO:0017842 "Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." "OMIM:606996 OMIM:616307 Orphanet:3156 ICD10CM:Q61.5 OMIM:614845 OMIMPS:266900 OMIM:616629 DOID:0050576 MESH:C537580 OMIM:610189 OMIM:609254 UMLS:CN117960 OMIM:606995 OMIM:613615 GARD:0000322 OMIM:266900" MONDO:0042956 "UMLS:C2931439 MESH:C537193 GARD:0000311" http://identifiers.org/hgnc/11067 -MONDO:0008939 "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." "DOID:0070338 Orphanet:1398 GARD:0001194 MedDRA:10008033 MESH:C562568 OMIM:213000 Orphanet:2246 NCIT:C98890 SCTID:16026008 ICD10:Q04.3" +MONDO:0008939 "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." "DOID:0070338 Orphanet:1398 GARD:0001194 MedDRA:10008033 MESH:C562568 ICD10CM:Q04.3 OMIM:213000 Orphanet:2246 NCIT:C98890 SCTID:16026008" http://identifiers.org/hgnc/10969 UBERON:0010409 MONDO:0014651 "Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene." "UMLS:C4225317 DOID:0060353 OMIM:616462" MONDO:0044252 "OMIM:210750" -MONDO:0000952 "A cancer that involves the hindlimb long bone." "ICD10:C40.2 DOID:10149 UMLS:C3265932 ICD9:170.7 SCTID:449627008" -MONDO:0009326 "Heart block that occurs on or before 28 days of life." "ICD10:Q24.6 GARD:0006164 OMIM:234700 MedDRA:10019263 DOID:990 UMLS:C0149530 SCTID:46619002 MESH:C535758 Orphanet:60041 ICD9:746.86" +MONDO:0000952 "A cancer that involves the hindlimb long bone." "DOID:10149 ICD10CM:C40.2 UMLS:C3265932 ICD9:170.7 SCTID:449627008" +MONDO:0009326 "Heart block that occurs on or before 28 days of life." "GARD:0006164 OMIM:234700 MedDRA:10019263 DOID:990 ICD10CM:Q24.6 UMLS:C0149530 SCTID:46619002 MESH:C535758 Orphanet:60041 ICD9:746.86" MONDO:0019051 -MONDO:0016108 "Autosomal dominant form of distal myopathy." "Orphanet:206650 ICD10:G71.0 UMLS:CN229018" +MONDO:0016108 "Autosomal dominant form of distal myopathy." "Orphanet:206650 UMLS:CN229018 ICD10CM:G71.0" UBERON:0019262 -MONDO:0010161 "Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." "DOID:0050726 Orphanet:882 GARD:0002658 NCIT:C98641 MedDRA:10069462 ICD10:E70.2 SCTID:410056006 OMIM:276700 UMLS:C0268490" -MONDO:0007353 "Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." "UMLS:C1852752 SCTID:717785002 OMIM:120400 ICD10:Q87.1 MESH:C535969 GARD:0001437 Orphanet:1471" +MONDO:0010161 "Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." "SCTID:410056006 NCIT:C98641 DOID:0050726 MedDRA:10069462 UMLS:C0268490 Orphanet:882 OMIM:276700 ICD10CM:E70.2 GARD:0002658" +MONDO:0007353 "Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." "UMLS:C1852752 SCTID:717785002 OMIM:120400 MESH:C535969 GARD:0001437 ICD10CM:Q87.1 Orphanet:1471" MONDO:0017757 "Orphanet:309824 UMLS:CN227202" http://identifiers.org/hgnc/10702 -MONDO:0019035 "Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests." "EFO:1000446 GARD:0004210 DOID:6823 ONCOTREE:PB MESH:C537162 UMLS:C0334489 ICD10:C25.1 NCIT:C4265 Orphanet:677" +MONDO:0019035 "Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests." "EFO:1000446 GARD:0004210 DOID:6823 ICD10CM:C25.1 ONCOTREE:PB MESH:C537162 UMLS:C0334489 NCIT:C4265 Orphanet:677" http://identifiers.org/hgnc/12266 MONDO:0021412 "A polyp that involves the maxillary sinus." "UMLS:C0264239 NCIT:C3931 SCTID:29074008 ICD9:471.8" GO:0016740 "Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2." MONDO:0013113 "Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene." "UMLS:C2751322 OMIM:613073 MESH:C567771 Orphanet:1040" GO:0071826 "Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex." -MONDO:0018242 "An autoimmune form of hypoparathyroidism." "UMLS:C0271865 ICD10:E20.8 Orphanet:36913 HP:0011771 SCTID:75316000" -MONDO:0027462 "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11." "ICD10:Q82.8 DOID:0070140 Orphanet:357074 OMIM:617402" -MONDO:0018842 "Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8)." "EFO:1000491 ICD10:C83.8 ICDO:9678/3 NCIT:C6915 GARD:0009247 Orphanet:48686 ONCOTREE:PEL UMLS:C1292753 MESH:D054685 MedDRA:10065857 ICD9:202.80 SCTID:713516007" -MONDO:0007693 "Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated." "Orphanet:2220 GARD:0000143 MedDRA:10068636 MESH:C535618 OMIM:139600 UMLS:C1841696 ICD10:Q84.2" -MONDO:0008588 "Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip." "MESH:C537682 GARD:0009501 UMLS:C2931589 OMIM:190100 ICD10:G25.3 SCTID:718103001 Orphanet:53372" +MONDO:0018242 "An autoimmune form of hypoparathyroidism." "UMLS:C0271865 ICD10CM:E20.8 Orphanet:36913 HP:0011771 SCTID:75316000" +MONDO:0027462 "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11." "DOID:0070140 Orphanet:357074 OMIM:617402" +MONDO:0018842 "Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8)." "EFO:1000491 ICDO:9678/3 NCIT:C6915 ICD10CM:C83.8 GARD:0009247 Orphanet:48686 ONCOTREE:PEL UMLS:C1292753 MESH:D054685 MedDRA:10065857 ICD9:202.80 SCTID:713516007" +MONDO:0007693 "Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated." "Orphanet:2220 GARD:0000143 MedDRA:10068636 MESH:C535618 OMIM:139600 UMLS:C1841696 ICD10CM:Q84.2" +MONDO:0008588 "Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip." "ICD10CM:G25.3 MESH:C537682 GARD:0009501 UMLS:C2931589 OMIM:190100 SCTID:718103001 Orphanet:53372" http://identifiers.org/hgnc/15860 -MONDO:0011868 "Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported." "Orphanet:137776 UMLS:C1843478 DOID:0060560 Orphanet:137783 GARD:0009177 UMLS:C4275145 SCTID:715419004 MESH:C564369 OMIM:607598 ICD10:Q68.8" +MONDO:0011868 "Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported." "Orphanet:137776 UMLS:C1843478 ICD10CM:Q68.8 DOID:0060560 Orphanet:137783 GARD:0009177 UMLS:C4275145 SCTID:715419004 MESH:C564369 OMIM:607598" CHEBI:38497 HP:0008372 "UMLS:C4024686" MONDO:0044251 "OMIM:209800" @@ -14956,26 +14951,26 @@ MONDO:0006762 "A condition occurring in the female offspring of dizygotic twins MONDO:0003461 "A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium." "DOID:5478 UMLS:C1517109 NCIT:C40113" MONDO:0003313 "A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma." "DOID:5170 UMLS:C3642329 NCIT:C40270" http://identifiers.org/hgnc/10701 -MONDO:0015359 "UMLS:CN228926 Orphanet:140453 ICD10:G60.0" +MONDO:0015359 "UMLS:CN228926 Orphanet:140453 ICD10CM:G60.0" CL:0002241 "A fibroblasts found in interstitial spaces in the pulmonary tract. Greater numbers of these cells are found in idiopathic pulmonary fibrosis." "FMA:84467" UBERON:0035819 MONDO:0002799 "A medulloblastoma characterized by nodularity and neuronal differentiation." "UMLS:C1334970 NCIT:C5407 DOID:3873" GO:0016052 "The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y." ENVO:00002000 "A solid astronomical body part which is part of the planetary surface between the peak of an elevation or the bottom of a depression and relatively flat surrounding land." HP:0001939 "UMLS:C4021768" -MONDO:0015607 "Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility." "OMIM:400042 OMIM:415000 HGNC:11311 SCTID:717158001 MESH:C536297 ICD10:Q98.6 Orphanet:1646 GARD:0004230" +MONDO:0015607 "Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility." "OMIM:400042 OMIM:415000 HGNC:11311 SCTID:717158001 MESH:C536297 ICD10CM:Q98.6 Orphanet:1646 GARD:0004230" http://identifiers.org/hgnc/11065 -MONDO:0016556 "Orphanet:238699 ICD10:P72.2" +MONDO:0016556 "Orphanet:238699 ICD10CM:P72.2" MONDO:0002869 "A disease involving the cardial valve." "ICD9:424.99 DOID:4079 SCTID:368009 MESH:D006349 NCIT:C45525 UMLS:C0018824" MONDO:0044250 "OMIM:189300" MONDO:0020041 "UMLS:CN227739 Orphanet:98086" GO:0030964 "An integral membrane complex that possesses NADH oxidoreductase activity. The complex is one of the components of the electron transport chain. It catalyzes the transfer of a pair of electrons from NADH to a quinone." NCBITaxon:1535326 "GC_ID:1" CHEBI:38496 -MONDO:0019924 "Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20." "ICD10:Q99.8 Orphanet:96194 UMLS:C4275028 SCTID:715736008" +MONDO:0019924 "Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20." "ICD10CM:Q99.8 Orphanet:96194 UMLS:C4275028 SCTID:715736008" UBERON:0019264 MONDO:0011325 "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM." "NCIT:C125707 OMIM:603467 EFO:0009045 DOID:0111088" -MONDO:0015776 "Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth." "OMIM:600121 NCIT:C85047 OMIMPS:215100 UMLS:C0282529 ICD10:Q77.3 Orphanet:177 SCTID:56692003 ICD10:E71.540 OMIM:215100 OMIM:616716 GARD:0013160 MESH:D018902 OMIM:222765 DOID:2580" +MONDO:0015776 "Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth." "OMIM:600121 NCIT:C85047 OMIMPS:215100 UMLS:C0282529 Orphanet:177 SCTID:56692003 ICD10CM:Q77.3 OMIM:215100 OMIM:616716 GARD:0013160 ICD10CM:E71.540 MESH:D018902 OMIM:222765 DOID:2580" HP:0011354 "An abnormality of the skin that is not localized to any one particular region." "UMLS:C4021157" MONDO:0041755 "SCTID:417006004 UMLS:C1562817" MONDO:0001381 "A lymphoma that involves the urinary bladder." "DOID:11821 NCIT:C6164 UMLS:C1332561" @@ -14986,69 +14981,69 @@ http://identifiers.org/hgnc/8860 GO:0005902 "Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells." MONDO:0008057 "Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene." "OMIM:160980 Orphanet:1359" CHEBI:26605 "A glycoside that is a compound containing one or more hydrophilic glycoside moieties combined with a lipophilic triterpenoid or steroid derivative. Found in particular abundance in plant species." -MONDO:0018996 "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level." "DOID:0050755 ICD10:G60.2 UMLS:C1853761 UMLS:CN205441 GARD:0012860 Orphanet:64753 OMIM:606002 SCTID:725408001 MESH:C537308" -MONDO:0012721 "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene." "GARD:0002167 DOID:0111446 ICD10:G40.3 UMLS:C2673257 MESH:C567095 OMIM:611726 Orphanet:263516" +MONDO:0018996 "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level." "DOID:0050755 ICD10CM:G60.2 UMLS:C1853761 UMLS:CN205441 GARD:0012860 Orphanet:64753 OMIM:606002 SCTID:725408001 MESH:C537308" +MONDO:0012721 "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene." "UMLS:C2673257 ICD10CM:G40.3 OMIM:611726 MESH:C567095 GARD:0002167 Orphanet:263516 DOID:0111446" http://identifiers.org/hgnc/26887 CHEBI:26167 "Any amino acid whose side chain is capable of forming one or more hydrogen bonds." -MONDO:0006118 "Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma." "ICD10:N60.3 EFO:1000145 UMLS:C0156318 NCIT:C3660 DOID:10353 ICD9:610.3 SCTID:29070004" +MONDO:0006118 "Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma." "ICD10CM:N60.3 EFO:1000145 UMLS:C0156318 NCIT:C3660 DOID:10353 ICD9:610.3 SCTID:29070004" http://identifiers.org/hgnc/7662 MONDO:0021335 "A carcinoma that involves the duodenum." "NCIT:C4803 SCTID:254570009" MONDO:0006049 "A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures." "EFO:1000046 DOID:5588 NCIT:C5650 SCTID:707411007 UMLS:C1335325 ICD9:162.9" -MONDO:0009124 "Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." "MESH:C535718 NCIT:C125591 SCTID:2593002 Orphanet:235 OMIM:223370 ICD10:Q87.1 GARD:0006290 UMLS:C0175691 DOID:14796 MedDRA:10059589 ICD9:742.8" +MONDO:0009124 "Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." "MESH:C535718 NCIT:C125591 SCTID:2593002 Orphanet:235 OMIM:223370 ICD10CM:Q87.1 GARD:0006290 UMLS:C0175691 DOID:14796 MedDRA:10059589 ICD9:742.8" MONDO:0006866 "A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" "SCTID:82178003 DOID:14043 MESH:D020941 ICD9:775.2 EFO:1001059 MedDRA:10028963" GO:0044449 "OBSOLETE. Any constituent part of a contractile fiber, a fiber composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle." ENVO:01001691 "An mass of environmental materials which has appreciable quantities of several individual materials, such that the removal of one would convert the mass into a different entity."@en -MONDO:0007619 "Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles." "DOID:0111357 SCTID:763748007 ICD10:Q82.8 Orphanet:289465 OMIM:136000 GARD:0012550 MESH:C565010" +MONDO:0007619 "Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles." "DOID:0111357 SCTID:763748007 ICD10CM:Q82.8 Orphanet:289465 OMIM:136000 GARD:0012550 MESH:C565010" CHEBI:35780 "A phosphorus oxoanion that is the conjugate base of phosphoric acid." GO:0015923 "Catalysis of the hydrolysis of mannosyl compounds, substances containing a group derived from a cyclic form of mannose or a mannose derivative." GO:0035936 "The regulated release of testosterone into the circulatory system. Testosterone is an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5." -MONDO:0010062 "Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive." "Orphanet:1185 ICD10:G11.8 UMLS:C1849088 GARD:0004958 OMIM:271270 MESH:C564802" +MONDO:0010062 "Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive." "Orphanet:1185 ICD10CM:G11.8 UMLS:C1849088 GARD:0004958 OMIM:271270 MESH:C564802" MONDO:0000774 "An autoimmune form of peripheral neuropathy." "DOID:0060499 DOID:0040087" NCBITaxon:1980410 "GC_ID:1" MONDO:0025431 "Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is moraxella (moraxella) bovis; in sheep, mycoplasma; rickettsia; chlamydia; or acholeplasma; in goats, rickettsia." "MESH:D007639 UMLS:C0022576" MONDO:0005795 MONDO:0000466 "A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds." "DOID:0050821 NCIT:C62015 SCTID:270492004 ICD9:426.11 UMLS:C0085614" MONDO:0005741 "OBSOLETE. Allergic reaction to eggs that is triggered by the immune system." "ICD9:V15.03 MESH:D021181 EFO:0007248 DOID:4377 UMLS:C0559469 SCTID:91930004" -MONDO:0002567 "A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma." "UMLS:C0040580 NCIT:C35079 DOID:3225 MESH:D014133 SCTID:47125007 ICD10:S12.8" -MONDO:0012640 "Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." "ICD10:G60.0 SCTID:720638000 DOID:0110184 Orphanet:139515 GARD:0012443 MESH:C566984 OMIM:611228 NCIT:C134954 UMLS:C1970011" +MONDO:0002567 "A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma." "UMLS:C0040580 NCIT:C35079 DOID:3225 MESH:D014133 SCTID:47125007" +MONDO:0012640 "Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." "SCTID:720638000 DOID:0110184 Orphanet:139515 GARD:0012443 MESH:C566984 OMIM:611228 NCIT:C134954 ICD10CM:G60.0 UMLS:C1970011" MONDO:0002963 "A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis." "NCIT:C27517 UMLS:C1301270 DOID:4324" MONDO:0012872 "OMIM:612348 MESH:C567341" -MONDO:0005135 "A successful invasion of a host by an organism that uses the host for food and shelter." "EFO:0001067 ICD9:129 UMLS:C0014238 ICD9:376.13 ICD9:136.8 ICD9:360.13 NCIT:C27864 ICD9:136.4 NCIT:C34587 ICD9:136.9 SCTID:17322007 ICD9:134.8 DOID:1398 MESH:D010272 MESH:D018512 ICD9:134.9 ICD10:H44.12 SCTID:57100005" -MONDO:0018956 "Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies)." "Orphanet:60033 SCTID:233629001 OMIM:613071 UMLS:C0339985 OMIM:613021 ICD10:J47 OMIM:211400" -MONDO:0006736 "Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane." "EFO:1000910 MedDRA:10013957 ICD9:622.11 UMLS:C0007868 ICD9:622.1 SCTID:73391008 ICD9:622.10 ICD10:N87 MESH:D002578" +MONDO:0005135 "A successful invasion of a host by an organism that uses the host for food and shelter." "DOID:1398 ICD9:136.9 NCIT:C34587 ICD9:136.8 NCIT:C27864 ICD9:129 ICD9:360.13 ICD9:136.4 EFO:0001067 SCTID:57100005 ICD9:376.13 MESH:D010272 ICD9:134.9 ICD9:134.8 UMLS:C0014238 MESH:D018512 SCTID:17322007" +MONDO:0018956 "Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies)." "Orphanet:60033 SCTID:233629001 OMIM:613071 UMLS:C0339985 OMIM:613021 OMIM:211400 ICD10CM:J47" +MONDO:0006736 "Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane." "EFO:1000910 MedDRA:10013957 ICD9:622.11 UMLS:C0007868 ICD9:622.1 SCTID:73391008 ICD9:622.10 MESH:D002578" http://identifiers.org/hgnc/6463 MONDO:0021160 "An cystitis caused by infection with Neisseria gonorrhoeae." "UMLS:C0473230 SCTID:197848003" -MONDO:0021669 "A disorder that follows infection but is distinct from the infection itself and its usual manifestations." "SCTID:123976001 ICD9:139.8" +MONDO:0021669 "A disorder that follows infection but is distinct from the infection itself and its usual manifestations." "ICD10CM:B90-B94 SCTID:123976001 ICD9:139.8" UBERON:0007037 MONDO:0011410 "OMIM:604211 UMLS:C1858696 MESH:C565817" http://identifiers.org/hgnc/7660 -MONDO:0004126 "Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis." "HP:0100646 UMLS:C0040147 ICD9:245 NCIT:C26894 MESH:D013966 ICD10:E06 SCTID:82119001 ICD10:E06.9 ICD9:245.9 DOID:7166" +MONDO:0004126 "Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis." "HP:0100646 UMLS:C0040147 ICD9:245 NCIT:C26894 MESH:D013966 SCTID:82119001 ICD9:245.9 DOID:7166" http://identifiers.org/hgnc/68 CHEBI:36685 "A carboxylic acid containing at least one chloro group." http://identifiers.org/hgnc/6462 -MONDO:0001711 "Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis." "ICD10:K72 ICD9:572.2 UMLS:C0019151 MESH:D006501 GARD:0010452 DOID:13413 NCIT:C79596 SCTID:13920009" -MONDO:0014810 "Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene." "UMLS:C4225173 ICD10:D81.8 Orphanet:317473 OMIM:616873" +MONDO:0001711 "Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis." "ICD9:572.2 UMLS:C0019151 MESH:D006501 GARD:0010452 DOID:13413 NCIT:C79596 SCTID:13920009" +MONDO:0014810 "Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene." "UMLS:C4225173 ICD10CM:D81.8 Orphanet:317473 OMIM:616873" MONDO:0003652 "Urolithiasis in which the composition of the stones is predominantly urate." "NCIT:C123037 UMLS:C0403719 SCTID:236496000 DOID:580 ICD9:274.11 UMLS:C0341712 ICD9:583.9" http://identifiers.org/hgnc/24229 MONDO:0004311 "A carcinoma that involves the bulbo-urethral gland." "DOID:7632 UMLS:C1516284 NCIT:C39864" UBERON:0006938 GO:0055127 "The transmission of vibrations via ossicles to the inner ear." -MONDO:0018536 "Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor." "ICD10:C24.8 SCTID:765741003 UMLS:CN237537 ICD10:C28.9 Orphanet:424991 ICD10:C24.1 ICD10:C23 ICD10:C24.0" +MONDO:0018536 "Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor." "SCTID:765741003 UMLS:CN237537 Orphanet:424991" http://identifiers.org/hgnc/7661 MONDO:0008214 "An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear." "DOID:9631 OMIM:169400 GARD:0009148 NCIT:C85002 SCTID:85559002 UMLS:C0030779 MESH:D010381 EFO:1001093 MedDRA:10029377" MONDO:0003735 "A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO)" "UMLS:C1332883 NCIT:C7014 DOID:6019 ONCOTREE:BIMT" MONDO:0000380 "A malignant epithelial neoplasm arising in the paranasal sinus." "UMLS:C0854995 UMLS:C0280334 NCIT:C8193 DOID:0050619 NCIT:C6014" -MONDO:0007095 "Orphanet:1028 UMLS:C1863006 ICD10:Q82.4 MESH:C538245 GARD:0000647 OMIM:104570 SCTID:715404000" +MONDO:0007095 "Orphanet:1028 UMLS:C1863006 ICD10CM:Q82.4 MESH:C538245 GARD:0000647 OMIM:104570 SCTID:715404000" MONDO:0005997 "Narrowing or stricture of the tricuspid orifice of the heart." "MESH:D014264 UMLS:C0040963 NCIT:C50783 HP:0010446 SCTID:49915006 EFO:0007525 DOID:4078" MONDO:0012874 "Orphanet:79152 MESH:C567339 UMLS:C2676508 OMIM:612353" MONDO:0006509 "A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma." "DOID:3113 MESH:D002291 UMLS:C0007133 NCIT:C2927 EFO:1000646 ICDO:8050/3" MONDO:0005118 "A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex." "ICD9:082.49 SCTID:85708001 GARD:0000071 DOID:0050025 EFO:0000777" -MONDO:0007764 "Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture." "Orphanet:2790 OMIM:144750 GARD:0000390 ICD10:Q78.2" +MONDO:0007764 "Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture." "Orphanet:2790 OMIM:144750 GARD:0000390 ICD10CM:Q78.2" FOODON:03305803 "SUBSET_SIREN:F5803" -MONDO:0011412 "SCTID:702421006 GARD:0010037 DOID:0050831 UMLS:C1858680 ICD10:G31.8 ICD9:348.39 MESH:C536841 Orphanet:85110 OMIM:604218" +MONDO:0011412 "SCTID:702421006 ICD10CM:G31.8 GARD:0010037 DOID:0050831 UMLS:C1858680 ICD9:348.39 MESH:C536841 Orphanet:85110 OMIM:604218" MONDO:0002300 "A benign, intermediate, or malignant neoplasm that arises from the dermis." "DOID:2438 UMLS:C0346041 NCIT:C4475" http://identifiers.org/hgnc/24488 -MONDO:0001063 "A malignant neoplasm involving the cardia of stomach." "ICD10:C16.0 SCTID:187732006 DOID:10548 ICD9:151.0 UMLS:C0153417" +MONDO:0001063 "A malignant neoplasm involving the cardia of stomach." "SCTID:187732006 DOID:10548 ICD9:151.0 UMLS:C0153417" FOODON:00001054 MONDO:0008293 "MESH:C536339 OMIM:175900 GARD:0009505 Orphanet:79152" MONDO:0003131 @@ -15058,13 +15053,13 @@ http://identifiers.org/hgnc/10961 CHEBI:75787 "Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea." MONDO:0018799 "OBSOLETE. Rare hypercholesterolemia." "UMLS:CN776861 Orphanet:477811" GO:0048872 "Any biological process involved in the maintenance of the steady-state number of cells within a population of cells." -MONDO:0009613 "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein." "UMLS:C1855109 UMLS:C0342721 OMIM:251100 DOID:0060742 Orphanet:79310 SCTID:82245003 UMLS:C0342722 NCIT:C142171 SCTID:73843004 Orphanet:28 GARD:0005500 ICD10:E71.1" -MONDO:0004594 "ICD10:O88.21 ICD9:673 ICD9:673.81 DOID:8512 ICD10:O88.23 ICD9:673.80 SCTID:200284000" +MONDO:0009613 "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein." "UMLS:C1855109 UMLS:C0342721 OMIM:251100 DOID:0060742 Orphanet:79310 SCTID:82245003 UMLS:C0342722 ICD10CM:E71.1 NCIT:C142171 SCTID:73843004 Orphanet:28 GARD:0005500" +MONDO:0004594 "ICD9:673 ICD9:673.81 DOID:8512 ICD9:673.80 SCTID:200284000" CHEBI:27902 "A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria." GO:1902722 "Any process that activates or increases the frequency, rate or extent of prolactin secretion." MONDO:0002621 "An osteosarcoma arising from the soft tissue." "ICD9:170.9 UMLS:C0855052 DOID:3357 NCIT:C8810 SCTID:404077005" http://identifiers.org/hgnc/6460 -MONDO:0020502 "Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure." "ICD10:A95.1 ICD9:060 UMLS:C0043397 UMLS:C0043395 MedDRA:10048240 ICD10:A95.0 NCIT:C35547 Orphanet:99829 ICD10:A95 ICD10:A95.9 ICD9:060.9 DOID:9682 UMLS:C0043398 GARD:0007914 MESH:D015004" +MONDO:0020502 "Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure." "ICD9:060 UMLS:C0043397 ICD10CM:A95.9 UMLS:C0043395 MedDRA:10048240 NCIT:C35547 ICD10CM:A95.1 Orphanet:99829 ICD10CM:A95.0 ICD9:060.9 DOID:9682 UMLS:C0043398 GARD:0007914 MESH:D015004" MONDO:0003132 FOODON:00001053 http://identifiers.org/hgnc/26624 @@ -15074,19 +15069,19 @@ MONDO:0011411 "MESH:C535459 GARD:0000086 UMLS:C1858695 OMIM:604213 Orphanet:314 MONDO:0006749 "A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes." "MESH:D018332 NCIT:C66756 ICDO:8770/3 SCTID:254811006 EFO:1000925" GO:0140242 "Translation that occurs at the postsynapse." GO:0006776 "The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene." -MONDO:0008379 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene." "DOID:0110388 OMIM:180105 MESH:C566715 ICD10:H35.5 UMLS:C1867299" -MONDO:0019810 "Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes." "ICD10:L51.2 ICD9:695.15 OMIM:608579 SCTID:23067006 GARD:0007743 UMLS:C0014518 MedDRA:10044223 EFO:0004775 NCIT:C79777 Orphanet:95455" +MONDO:0008379 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene." "DOID:0110388 OMIM:180105 MESH:C566715 UMLS:C1867299" +MONDO:0019810 "Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes." "ICD9:695.15 OMIM:608579 SCTID:23067006 GARD:0007743 UMLS:C0014518 MedDRA:10044223 EFO:0004775 NCIT:C79777 Orphanet:95455" GO:0006110 "Any process that modulates the frequency, rate or extent of glycolysis." MONDO:0012876 "SCTID:234468009 MESH:C562865 OMIM:612356 ICD9:286.3 UMLS:C0398626" GO:0010557 "Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass." CL:0000157 "A cell that specializes in secretion of surfactant in the alveoli of the lung." -MONDO:0007522 "Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." "ICD10:Q79.6 Orphanet:287 UMLS:C0268335 UMLS:C0220679 Orphanet:90309 SCTID:715318006 UMLS:C4225429 GARD:0002088" +MONDO:0007522 "Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." "Orphanet:287 UMLS:C0268335 UMLS:C0220679 Orphanet:90309 ICD10CM:Q79.6 SCTID:715318006 UMLS:C4225429 GARD:0002088" UBERON:0013165 GO:0005244 "Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded." -MONDO:0011240 "Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." "OMIM:602501 SCTID:703370002 GARD:0006950 Orphanet:60040 ICD10:Q87.3 ICD9:759.89 MESH:C536142 UMLS:C1865285" +MONDO:0011240 "Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." "OMIM:602501 SCTID:703370002 ICD10CM:Q87.3 GARD:0006950 Orphanet:60040 ICD9:759.89 MESH:C536142 UMLS:C1865285" MONDO:0000635 MONDO:0019117 "An instance of nervous system disease that is caused by a modification of the individual's genome." "Orphanet:71859 UMLS:CN205639" -MONDO:0015534 "A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules." "DOID:4424 UMLS:C0043324 EFO:1000311 MESH:D014972 ICD10:D76.3 NCIT:C3451 Orphanet:158000 SCTID:400204000" +MONDO:0015534 "A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules." "DOID:4424 UMLS:C0043324 EFO:1000311 MESH:D014972 ICD10CM:D76.3 NCIT:C3451 Orphanet:158000 SCTID:400204000" NCBITaxon:1980413 "GC_ID:1" MONDO:0007090 "OMIM:104350 MESH:C566295 UMLS:C1863015" MONDO:0006991 @@ -15103,26 +15098,26 @@ MONDO:0005758 "The state of being a eunuch, a male without testes or whose teste GO:0060452 "Any process that increases the frequency, rate or extent of cardiac muscle contraction." MONDO:0006150 "A rare Burkitt lymphoma that arises from the colon." "EFO:1000182 NCIT:C27465 UMLS:C1333083" MONDO:0021443 "A benign neoplasm that involves the lymph node." "ICD9:229.0 NCIT:C3636 UMLS:C0154054 DOID:0080617 SCTID:92197001" -MONDO:0018302 "Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected." "Orphanet:37559 ICD10:L67.8 UMLS:CN204889" -MONDO:0013810 "OMIM:614576 DOID:0070264 ICD10:E77.8 Orphanet:464443 GARD:0010944 UMLS:C3553230" +MONDO:0018302 "Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected." "ICD10CM:L67.8 Orphanet:37559 UMLS:CN204889" +MONDO:0013810 "OMIM:614576 DOID:0070264 Orphanet:464443 GARD:0010944 UMLS:C3553230 ICD10CM:E77.8" CL:0000499 "A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere." "FMA:83624 BTO:0002064" MONDO:0005793 -MONDO:0016269 "High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated." "Orphanet:213731 ICD10:C54.3 ICD10:C54.0 UMLS:CN201058 ICD10:C54.8 ICD10:C54.2 ICD10:C54.1" +MONDO:0016269 "High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated." "Orphanet:213731 ICD10CM:C54.2 ICD10CM:C54.3 ICD10CM:C54.0 ICD10CM:C54.1 UMLS:CN201058 ICD10CM:C54.8" GO:0045700 "Any process that modulates the frequency, rate or extent of spermatid nuclear differentiation." MONDO:0008290 "Orphanet:735 OMIM:175800 UMLS:C0949506" MONDO:0021824 "A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others." "GARD:0009132" -MONDO:0004926 "Inflammation of the lacrimal sac." "ICD9:375.30 NCIT:C34521 MESH:D003607 ICD10:H04.30 DOID:9938 UMLS:C0010930 SCTID:85777005" +MONDO:0004926 "Inflammation of the lacrimal sac." "ICD9:375.30 NCIT:C34521 MESH:D003607 DOID:9938 UMLS:C0010930 SCTID:85777005" MONDO:0002173 "A tumor that grows from a nerve or is composed of nerve cells and nerve fibers." "UMLS:C0027858 MESH:D009463 NCIT:C3275 ICDO:9570/0 DOID:2001 SCTID:443892003 ICD9:215.9" -MONDO:0001955 "A dysentery that involves protozoan infection." "DOID:14397 ICD9:007.8 ICD10:A07.8 ICD10:B50.B64" +MONDO:0001955 "A dysentery that involves protozoan infection." "DOID:14397 ICD9:007.8 ICD10CM:B50-B64" FOODON:00001055 MONDO:0004090 "A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm." "UMLS:C2211850 NCIT:C40286 DOID:7048" MONDO:0012612 "MESH:C567019 UMLS:C1970200 OMIM:611090" MONDO:0004595 "SCTID:67189007 DOID:8514 UMLS:C0155671 ICD9:415" MONDO:0007091 "MESH:C566294 UMLS:C1863014 OMIM:104400" -MONDO:0010569 "X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." "GARD:0012526 UMLS:C1839909 Orphanet:275543 Orphanet:1497 ICD10:Q04.8 OMIM:304100 MESH:C564115" +MONDO:0010569 "X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." "GARD:0012526 UMLS:C1839909 Orphanet:275543 Orphanet:1497 ICD10CM:Q04.8 OMIM:304100 MESH:C564115" GO:0016831 "Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound." UBERON:0007297 -MONDO:0009779 "Autosomal recessive form of omodysplasia." "ICD10:Q78.8 UMLS:C1850318 GARD:0004076 Orphanet:2733 SCTID:725166005 Orphanet:93329 OMIM:258315" +MONDO:0009779 "Autosomal recessive form of omodysplasia." "UMLS:C1850318 GARD:0004076 Orphanet:2733 SCTID:725166005 Orphanet:93329 ICD10CM:Q78.8 OMIM:258315" MONDO:0007088 "UMLS:C2931257 Orphanet:1020 DOID:0080348 GARD:0009465" MONDO:0033486 "UMLS:CN845004 OMIM:617899 DOID:0080296" MONDO:0008285 "MESH:C566774 UMLS:C1868000 OMIM:175510" @@ -15131,23 +15126,23 @@ GO:0060561 "Any apoptotic process that contributes to the shaping of an anatomic http://identifiers.org/hgnc/8856 GO:0042157 "The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids." HP:0000123 "The presence of inflammation affecting the kidney." "UMLS:C0027697 SNOMEDCT_US:52845002 MSH:D009393" -MONDO:0012650 "Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." "ICD10:D81.1 MESH:C566970 UMLS:C1969799 SCTID:720853005 Orphanet:169079 OMIM:611291" +MONDO:0012650 "Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." "MESH:C566970 UMLS:C1969799 SCTID:720853005 Orphanet:169079 ICD10CM:D81.1 OMIM:611291" UBERON:0004537 MONDO:0008020 "OMIM:158345 UMLS:C1834724 GARD:0000291 MESH:C563566" CHR:9606-chr5q22.2 -MONDO:0001101 "Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment." "UMLS:C0156321 ICD10:N64.1 SCTID:21381006 ICD9:611.3 DOID:10691 NCIT:C3661" +MONDO:0001101 "Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment." "UMLS:C0156321 ICD10CM:N64.1 SCTID:21381006 ICD9:611.3 DOID:10691 NCIT:C3661" UBERON:0006932 -MONDO:0007909 "Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported." "ICD9:214.9 ICD10:E88.2 ICD9:214.8 OMIM:151900 GARD:0012925 SCTID:766888002 Orphanet:199276" +MONDO:0007909 "Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported." "ICD10CM:E88.2 ICD9:214.9 ICD9:214.8 OMIM:151900 GARD:0012925 SCTID:766888002 Orphanet:199276" NCBITaxon:2038 "PMID:1377787 PMID:11491348 GC_ID:11" UBERON:0009692 -MONDO:0015361 "Orphanet:140459 UMLS:CN228928 ICD10:G60.0" +MONDO:0015361 "Orphanet:140459 ICD10CM:G60.0 UMLS:CN228928" MONDO:0100131 "Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded." MONDO:0025449 "A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis." "MESH:D010283 UMLS:C0030524" -MONDO:0010750 "Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded." "ICD10:Q73.8 UMLS:C1839123 Orphanet:1122 OMIM:314360 GARD:0005400 MESH:C536936" +MONDO:0010750 "Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded." "ICD10CM:Q73.8 UMLS:C1839123 Orphanet:1122 OMIM:314360 GARD:0005400 MESH:C536936" UBERON:0003339 MONDO:0033485 "OMIM:617895 DOID:0080295 UMLS:CN842245" MONDO:0002198 "A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma." "NCIT:C40292 UMLS:C1520082 DOID:2076" -MONDO:0016060 "A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus." "ICD10:Q32.1 OMIM:215800 NCIT:C98622 GARD:0003188 MESH:C537875 SCTID:232461002 Orphanet:2004" +MONDO:0016060 "A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus." "ICD10CM:Q32.1 OMIM:215800 NCIT:C98622 GARD:0003188 MESH:C537875 SCTID:232461002 Orphanet:2004" MONDO:0045052 "A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma." "NCIT:C6602" UBERON:0004539 MONDO:0008284 "OMIM:175505 MESH:C566775 UMLS:C1868001" @@ -15164,34 +15159,34 @@ UBERON:0006931 CL:1000277 "A smooth muscle cell that is part of the jejunum." "FMA:15062" NCBITaxon:2037 "GC_ID:11 PMID:16558735 PMID:19244447 PMID:10028252 PMID:28840812" MONDO:0006724 -MONDO:0015360 "UMLS:CN228927 Orphanet:140456 ICD10:G60.0" +MONDO:0015360 "UMLS:CN228927 Orphanet:140456 ICD10CM:G60.0" MONDO:0011190 "Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene." "Orphanet:93591 Orphanet:655 MESH:C566582 DOID:0111113 UMLS:C1865872 OMIM:602088" -MONDO:0004132 "A squamous cell carcinoma arising from the mucosa of the anal canal." "Orphanet:424019 UMLS:C1332262 ICD10:C21.1 NCIT:C7469 DOID:7177" -MONDO:0016080 "Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus." "GARD:0001475 ICD10:Q32.4 Orphanet:2040 SCTID:719452004" +MONDO:0004132 "A squamous cell carcinoma arising from the mucosa of the anal canal." "Orphanet:424019 ICD10CM:C21.1 UMLS:C1332262 NCIT:C7469 DOID:7177" +MONDO:0016080 "Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus." "GARD:0001475 ICD10CM:Q32.4 Orphanet:2040 SCTID:719452004" MONDO:0700121 "Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene." MONDO:0021154 "A disease that involves the dermis." "UMLS:CN227618 Orphanet:79381" MONDO:0009481 "GARD:0006803 OMIM:244100" -MONDO:0008813 "Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)" "GARD:0000017 Orphanet:2356 UMLS:C0078981 MESH:D016080 ICD10:G93.0 SCTID:33595009 OMIM:182990 NCIT:C3455 MedDRA:10049005" -MONDO:0009832 "Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue." "UMLS:C1850096 OMIM:615935 Orphanet:2805 ICD10:Q45.0 MESH:C564908 DOID:0050877 OMIM:167755 OMIM:260370 OMIMPS:260370 SCTID:719044008" +MONDO:0008813 "Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)" "GARD:0000017 Orphanet:2356 UMLS:C0078981 MESH:D016080 SCTID:33595009 OMIM:182990 NCIT:C3455 ICD10CM:G93.0 MedDRA:10049005" +MONDO:0009832 "Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue." "OMIM:615935 Orphanet:2805 UMLS:C1850096 MESH:C564908 DOID:0050877 OMIM:167755 OMIM:260370 OMIMPS:260370 ICD10CM:Q45.0 SCTID:719044008" MONDO:0007923 "GARD:0000147 OMIM:153470 MESH:C537717" http://identifiers.org/hgnc/8854 -MONDO:0019378 "La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits." "DOID:0050118 ICD9:062.5 MedDRA:10014584 SCTID:61094002 MESH:D004670 UMLS:C0276379 ICD10:A83.5 GARD:0010925 UMLS:C0014053 Orphanet:83483" +MONDO:0019378 "La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits." "DOID:0050118 ICD9:062.5 MedDRA:10014584 SCTID:61094002 MESH:D004670 ICD10CM:A83.5 UMLS:C0276379 GARD:0010925 UMLS:C0014053 Orphanet:83483" http://identifiers.org/hgnc/1304 GO:0098857 "A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it." MONDO:0013083 "Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene." "OMIM:613014" UBERON:0006930 MONDO:0008022 "OMIM:158400 MESH:C563563 UMLS:C1834708" MONDO:0010470 "OMIM:300881" -MONDO:0013813 "Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." "Orphanet:306734 ICD10:G24.1 DOID:0090046 UMLS:C3281236 OMIM:614588" +MONDO:0013813 "Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." "Orphanet:306734 ICD10CM:G24.1 DOID:0090046 UMLS:C3281236 OMIM:614588" MONDO:0006725 -MONDO:0013351 "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination." "GARD:0010995 OMIM:613668 ICD10:Q04.3 Orphanet:402364 UMLS:C3150921 DOID:0111262" +MONDO:0013351 "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination." "GARD:0010995 OMIM:613668 ICD10CM:Q04.3 Orphanet:402364 UMLS:C3150921 DOID:0111262" MONDO:0006917 "Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia)." "EFO:1001118 DOID:3821 UMLS:C0752132 MESH:D020762" IAO:0000225 "The reason for which a term has been deprecated. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value."@en http://identifiers.org/hgnc/2501 MONDO:0000481 "Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery." "NCIT:C85072 Orphanet:93962 SCTID:74333002 GARD:0010668 ICD9:333.83 DOID:0050840" MONDO:0002171 "A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells." "NCIT:C3055 MESH:D005870 UMLS:C0017525 DOID:200 SCTID:443790001" -MONDO:0015033 "Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." "ICD10:I68.0* ICD9:277.39 Orphanet:100006 SCTID:56453003 OMIM:605714 ICD10:E85.4+" -MONDO:0020513 "A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males." "ICDO:9063/3 Orphanet:99865 DOID:5834 ICD10:C62.9 OMIM:273300 NCIT:C39921 DOID:7891 UMLS:C0334517" +MONDO:0015033 "Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." "ICD10EXP:E85.4+ ICD10EXP:I68.0* ICD9:277.39 Orphanet:100006 SCTID:56453003 OMIM:605714" +MONDO:0020513 "A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males." "ICD10CM:C62.9 ICDO:9063/3 Orphanet:99865 DOID:5834 OMIM:273300 NCIT:C39921 DOID:7891 UMLS:C0334517" PATO:0001481 "A shape quality inhering in a bearer by virtue of the bearer's having an oblique or slanted direction." http://identifiers.org/hgnc/4065 MONDO:0008282 "OMIM:175450 MESH:C566776 UMLS:C1868005" @@ -15201,7 +15196,7 @@ ENVO:01001677 "A surface layer which separates two portions of fluid with respec http://identifiers.org/hgnc/3700 UBERON:0014371 MONDO:0002770 "Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer." "DOID:3767 NCIT:C50795 MESH:D019522" -MONDO:0021201 "An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm." "NCIT:C35025 SCTID:19824006 UMLS:C0037278" +MONDO:0021201 "An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm." "NCIT:C35025 SCTID:19824006 UMLS:C0037278 ICD10CM:L00-L08" NCBITaxon:2039 "PMID:1377787 GC_ID:11 PMID:11491348 PMID:10843039 PMID:10555351 PMID:8863438" HP:0000159 "An abnormality of the lip." "UMLS:C2183966" GO:0140375 "Receiving a signal and transmitting it in a cell to initiate an immune response." @@ -15210,12 +15205,12 @@ GO:0036477 "The region of a neuron that includes the cell body (cell soma) and d GO:0046879 "The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells." UBERON:0005997 GO:0044444 "OBSOLETE. Any constituent part of the cytoplasm, all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures." -MONDO:0014665 "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." "UMLS:C4225306 DOID:0110178 ICD10:G60.0 OMIM:616491 Orphanet:447964" +MONDO:0014665 "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." "UMLS:C4225306 DOID:0110178 ICD10CM:G60.0 OMIM:616491 Orphanet:447964" MONDO:0001884 "A neoplasm involving a abducens nerve." "SCTID:126972009 ICD9:239.7 NCIT:C5826 DOID:14125 UMLS:C1263898" -MONDO:0001590 "Paralysis of all four limbs." "ICD9:344.09 ICD10:G82.50 UMLS:C0034372 SCTID:11538006 ICD10:G82.5 MESH:D011782 ICD9:344.00 DOID:12835 NCIT:C50721" +MONDO:0001590 "Paralysis of all four limbs." "ICD9:344.09 UMLS:C0034372 SCTID:11538006 MESH:D011782 ICD9:344.00 DOID:12835 NCIT:C50721" MONDO:0003127 -MONDO:0011670 "OMIM:606408 Orphanet:230839 ICD10:Q79.6 GARD:0008507 UMLS:C1848029 MESH:C536193" -MONDO:0010591 "Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission." "UMLS:C1844560 GARD:0012720 OMIM:305550 Orphanet:97232 ICD10:G71.2 MESH:C564425" +MONDO:0011670 "OMIM:606408 Orphanet:230839 GARD:0008507 UMLS:C1848029 MESH:C536193 ICD10CM:Q79.6" +MONDO:0010591 "Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission." "UMLS:C1844560 GARD:0012720 OMIM:305550 Orphanet:97232 MESH:C564425 ICD10CM:G71.2" UBERON:0003336 NCBITaxon:33356 "GC_ID:1" GO:0097205 "A renal system process in which fluid circulating through the body is filtered through a barrier system." @@ -15227,10 +15222,10 @@ MONDO:0030989 "OMIM:619258" MONDO:0009309 "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene." "UMLS:C1856251 Orphanet:379 OMIM:233700 DOID:0070192 MESH:C565532" UBERON:0006936 http://identifiers.org/hgnc/21732 -MONDO:0008727 "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." "ICD10:E25.0 Orphanet:418 GARD:0009152 NCIT:C131088 Orphanet:90791 OMIM:201810 SCTID:54470008 MESH:C538236" +MONDO:0008727 "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." "Orphanet:418 Orphanet:90791 OMIM:201810 ICD10CM:E25.0 MESH:C538236 NCIT:C131088 SCTID:54470008 GARD:0009152" MONDO:0044311 "BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017})." "OMIM:617412 UMLS:C4479431" -MONDO:0010472 "SCTID:733451007 OMIM:300884 GARD:0012401 ICD10:E77.8 UMLS:C3550904 Orphanet:324422 DOID:0080470" -MONDO:0010038 "Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum)." "Orphanet:73273 GARD:0010609 ICD10:E34.3 OMIM:270450 UMLS:C1849157 MESH:C564816 SCTID:715625007" +MONDO:0010472 "SCTID:733451007 ICD10CM:E77.8 OMIM:300884 GARD:0012401 UMLS:C3550904 Orphanet:324422 DOID:0080470" +MONDO:0010038 "Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum)." "Orphanet:73273 GARD:0010609 OMIM:270450 ICD10CM:E34.3 UMLS:C1849157 MESH:C564816 SCTID:715625007" MONDO:0006985 http://identifiers.org/hgnc/17158 MONDO:0009487 "OMIM:244510 UMLS:C1855647 MESH:C565456" @@ -15239,7 +15234,7 @@ http://identifiers.org/hgnc/2505 ENVO:01001686 "An object which is composed primarily of an environmental material"@en GO:0030258 "The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid." http://identifiers.org/hgnc/8853 -MONDO:0001110 "Persistent pyelonephritis." "NCIT:C123216 ICD9:590.0 ICD10:N11 ICD10:N11.9 UMLS:C0085697 DOID:1076 SCTID:63302006" +MONDO:0001110 "Persistent pyelonephritis." "NCIT:C123216 ICD9:590.0 UMLS:C0085697 DOID:1076 SCTID:63302006" GO:0006139 "Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids." GO:0030030 "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon." UBERON:0005732 @@ -15250,7 +15245,7 @@ MONDO:0005521 UBERON:0009697 MONDO:0009220 "OMIM:228100 ICD9:571.8 GARD:0008514 SCTID:270881008" GO:0046189 "The chemical reactions and pathways resulting in the formation of a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring." -MONDO:0009528 "Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." "SCTID:702364003 MESH:C535460 ICD10:E78.6 Orphanet:71 ICD10:E78.3 UMLS:C0795956 GARD:0009683 OMIM:246700 DOID:0060357" +MONDO:0009528 "Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications." "SCTID:702364003 MESH:C535460 ICD10CM:E78.6 Orphanet:71 UMLS:C0795956 GARD:0009683 OMIM:246700 DOID:0060357" GO:0044325 "Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other." MONDO:0033481 "Orphanet:589522 DOID:0080288 UMLS:CN623018 OMIM:617770" MONDO:0003955 "A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present." "SCTID:708518001 UMLS:C1334303 NCIT:C9503 DOID:6641" @@ -15260,31 +15255,31 @@ UBERON:0004534 MONDO:0004752 "A rare neurofibroma that affects the heart." "NCIT:C5359 UMLS:C1096349 DOID:9300" MONDO:0014337 "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene." "DOID:0090135 OMIM:615763 UMLS:C3810407" UBERON:0002137 -MONDO:0001309 "Paralysis of the oculomotor nerve." "Orphanet:98685 DOID:11550 ICD10:H49.0 MESH:D015840 SCTID:388980004 UMLS:C0028866 NCIT:C27597" +MONDO:0001309 "Paralysis of the oculomotor nerve." "Orphanet:98685 DOID:11550 MESH:D015840 SCTID:388980004 UMLS:C0028866 NCIT:C27597" MONDO:0010471 "Orphanet:199 UMLS:C3550903 OMIM:300882 DOID:0080509" MONDO:0004589 MONDO:0006595 "Jaundice in perinates due to cellular damange of liver." "DOID:11452 ICD9:774.4 UMLS:C0158976 SCTID:10877007 EFO:1000750" -MONDO:0014443 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene." "DOID:0110137 OMIM:615992 UMLS:C3150127 ICD10:Q87.89 Orphanet:110" +MONDO:0014443 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene." "DOID:0110137 OMIM:615992 UMLS:C3150127 Orphanet:110" GO:0002637 "Any process that modulates the frequency, rate, or extent of immunoglobulin production." GO:0099024 "An infolding of the plasma membrane." UBERON:0005733 -MONDO:0019558 "A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE)." "SCTID:200938002 Orphanet:90281 ICD10:L93.0 NCIT:C26820 UMLS:C0024138 MESH:D008179 MedDRA:10013072" +MONDO:0019558 "A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE)." "SCTID:200938002 Orphanet:90281 NCIT:C26820 ICD10CM:L93.0 UMLS:C0024138 MESH:D008179 MedDRA:10013072" GO:0003723 "Binding to an RNA molecule or a portion thereof." CL:0000988 "A cell of a hematopoietic lineage." "FMA:70366 FMA:83598 BTO:0000574 CALOHA:TS-2017" http://identifiers.org/hgnc/8850 http://identifiers.org/hgnc/22932 -MONDO:0016394 "Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." "Orphanet:225147 ICD10:G23.2" -MONDO:0006726 "A congenital or acquired abnormality characterized by elevation of the hemidiaphragm." "DOID:10480 SCTID:34168003 NCIT:C98912 MESH:D003965 ICD10:Q79.1 EFO:1000898 HP:0009110" -MONDO:0024229 "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum." "ICD10CM:L74.1 DOID:0070321" -MONDO:0000265 "A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract." "UMLS:C0032290 UMLS:C0085740 DOID:0050152 HP:0011951 MESH:D011015 ICD10:J69.0 SCTID:422588002" +MONDO:0016394 "Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." "Orphanet:225147 ICD10CM:G23.2" +MONDO:0006726 "A congenital or acquired abnormality characterized by elevation of the hemidiaphragm." "DOID:10480 SCTID:34168003 NCIT:C98912 MESH:D003965 EFO:1000898 HP:0009110" +MONDO:0024229 "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum." "DOID:0070321" +MONDO:0000265 "A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract." "UMLS:C0032290 UMLS:C0085740 DOID:0050152 HP:0011951 MESH:D011015 SCTID:422588002" UBERON:0003338 -MONDO:0009485 "UMLS:C1855663 GARD:0003084 DOID:0111456 SCTID:722056009 OMIM:244450 Orphanet:2707 MESH:C537013 ICD10:Q87.0" +MONDO:0009485 "UMLS:C1855663 GARD:0003084 DOID:0111456 SCTID:722056009 OMIM:244450 ICD10CM:Q87.0 Orphanet:2707 MESH:C537013" http://identifiers.org/hgnc/18358 MONDO:0006886 "A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)" "MESH:D018265 DOID:3968 NCIT:C7380 UMLS:C0206683 EFO:1001083" MONDO:0021109 "An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas." "ONCOTREE:IUP UMLS:C1334282 NCIT:C6192" GO:0090594 "The immediate defensive reaction by vertebrate tissue to injury caused by chemical or physical agents." UBERON:0006934 -MONDO:0017309 "Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated." "UMLS:CN202885 SCTID:763839005 ICD10:Q87.4 Orphanet:284979 UMLS:CN536247" +MONDO:0017309 "Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated." "UMLS:CN202885 SCTID:763839005 Orphanet:284979 UMLS:CN536247 ICD10CM:Q87.4" http://identifiers.org/hgnc/7652 UBERON:0008230 MONDO:0030987 "OMIM:619227" @@ -15294,7 +15289,7 @@ http://identifiers.org/hgnc/25695 GO:0008366 "Any process in which the axon of a neuron is insulated, and that insulation maintained, thereby preventing dispersion of the electrical signal." http://identifiers.org/hgnc/21734 UBERON:0004535 -MONDO:0016008 "Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported." "NCIT:C98927 ICD9:759.89 MESH:C537922 Orphanet:1912 ICD10:Q86.1 MedDRA:10016508 SCTID:70065001 GARD:0006435 UMLS:C0265372" +MONDO:0016008 "Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported." "NCIT:C98927 ICD10CM:Q86.1 ICD9:759.89 MESH:C537922 Orphanet:1912 MedDRA:10016508 SCTID:70065001 GARD:0006435 UMLS:C0265372" MONDO:0014649 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene." "OMIM:616460" UBERON:0009695 UBERON:0007298 @@ -15315,31 +15310,31 @@ GO:0051354 "Any process that stops or reduces the rate of oxidoreductase activit UBERON:0008231 MONDO:0012870 "DOID:0060416 OMIM:612345 UMLS:C2676724 MESH:C567344" MONDO:0030988 "OMIM:619228" -MONDO:0008038 "Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia." "GARD:0003865 ICD10:D61.0 OMIM:159550 MESH:C563233 SCTID:768556005 UMLS:C1327919 Orphanet:2585" +MONDO:0008038 "Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia." "GARD:0003865 OMIM:159550 MESH:C563233 SCTID:768556005 ICD10CM:D61.0 UMLS:C1327919 Orphanet:2585" UBERON:0004536 -MONDO:0014899 "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism." "OMIM:617070 SCTID:733599009 ICD10:G71.3 Orphanet:329314 DOID:0111516 UMLS:C4310733" +MONDO:0014899 "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism." "ICD10CM:G71.3 OMIM:617070 SCTID:733599009 Orphanet:329314 DOID:0111516 UMLS:C4310733" MONDO:0024546 "Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene." "OMIM:259100 Orphanet:1525 UMLS:C0029411 Orphanet:2796" PATO:0001563 "A mass which is higher than normal or average." MONDO:0008167 "A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral." "OMIM:166950 DOID:5117 NCIT:C3856 UMLS:C0237020 UMLS:C0280131 MESH:C562731" -MONDO:8000006 "A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." "MESH:C536697 ICD10:D81.8 SCTID:234571003 DOID:0060591 GARD:0009297 OMIM:193670 Orphanet:51636 UMLS:C0472817" +MONDO:8000006 "A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)." "MESH:C536697 SCTID:234571003 ICD10CM:D81.8 DOID:0060591 GARD:0009297 OMIM:193670 Orphanet:51636 UMLS:C0472817" PO:0025127 "A portion of meristem tissue (PO:0009013) that has as parts protoderm (PO:0006210) and sub-epidermal meristematic tissue and is committed to the development of a particular plant structure (PO:0009011)." "PO_GIT:186" CL:0000438 "A peptide hormone secreting cell pituitary that produces luteinizing hormone." UBERON:0035820 UBERON:0003332 -MONDO:0018895 "Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs." "SCTID:80126007 MESH:D011004 UMLS:C0032249 GARD:0008259 Orphanet:54028 NCIT:C85016 MedDRA:10040664 ICD9:280.8 ICD10:D50.1" +MONDO:0018895 "Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs." "SCTID:80126007 ICD10CM:D50.1 MESH:D011004 UMLS:C0032249 GARD:0008259 Orphanet:54028 NCIT:C85016 MedDRA:10040664 ICD9:280.8" UBERON:0003598 -MONDO:0009857 "Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys." "Orphanet:2856 GARD:0008435 ICD9:752.89 OMIM:261550 NCIT:C120188 SCTID:702358005 ICD10:Q55.8 DOID:0050791 UMLS:C1849930 MESH:C536665" +MONDO:0009857 "Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys." "Orphanet:2856 GARD:0008435 ICD9:752.89 OMIM:261550 NCIT:C120188 SCTID:702358005 DOID:0050791 UMLS:C1849930 MESH:C536665 ICD10CM:Q55.8" CHR:9606-chr5q14 -MONDO:0018962 "SCTID:52159006 ICD10:Q43.3 UMLS:C0266235 Orphanet:620" +MONDO:0018962 "SCTID:52159006 UMLS:C0266235 ICD10CM:Q43.3 Orphanet:620" MONDO:0008028 "MESH:C563558 UMLS:C1834688 OMIM:158800" UBERON:0005993 MONDO:0013699 "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene." "MESH:C563971 DOID:0070275 Orphanet:144 UMLS:C1838333 OMIM:614337" UBERON:0002134 UBERON:0004795 -MONDO:0002099 "An disease or disorder caused by infection with Histoplasma capsulatum." "SCTID:76255006 DOID:1759 ICD9:115.0 ICD10:B39.4 ICD9:115.00" +MONDO:0002099 "An disease or disorder caused by infection with Histoplasma capsulatum." "SCTID:76255006 DOID:1759 ICD9:115.0 ICD9:115.00" MONDO:0030985 "OMIM:619245" HP:0004431 "An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins." "SNOMEDCT_US:24743004 UMLS:C0272242" -MONDO:0017764 "Orphanet:309845 ICD10:E83.2 ICD9:275.8 MedDRA:10048260 SCTID:46727001" +MONDO:0017764 "Orphanet:309845 ICD9:275.8 MedDRA:10048260 SCTID:46727001" MONDO:0023642 "SCTID:24654003 ICD9:344.89 UMLS:C0455717 GARD:0008676" MONDO:0009225 "MESH:C565569 OMIM:228400 UMLS:C1856788" MONDO:0021247 @@ -15354,13 +15349,12 @@ UBERON:0003331 UBERON:0002133 MONDO:0013809 "OMIM:614575 UMLS:C3281223" UBERON:0004796 -MONDO:0015049 "Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort." "Orphanet:100035 UMLS:CN197336 SCTID:447058001 ICD10:D13.4" +MONDO:0015049 "Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort." "Orphanet:100035 UMLS:CN197336 SCTID:447058001 ICD10CM:D13.4" MONDO:0015368 "Orphanet:140653 UMLS:CN199459" -MONDO:0014253 "A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." "NCIT:C39577 OMIM:615559 ICD10:D47.9 UMLS:C1519711 UMLS:C3809928 Orphanet:3261 DOID:0110119" MONDO:0030986 "OMIM:619226" NCBITaxon:813 "PMID:8347519 PMID:10319462 PMID:10192388 GC_ID:11 PMID:8102247" NCBITaxon:33351 "GC_ID:1" -MONDO:0012516 "Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability." "SCTID:711543008 ICD10:Q87.0 MESH:C537405 UMLS:C1864652 OMIM:610536 Orphanet:79113 GARD:0010056 DOID:0080196" +MONDO:0012516 "Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability." "Orphanet:79113 OMIM:610536 DOID:0080196 GARD:0010056 SCTID:711543008 ICD10CM:Q87.0 UMLS:C1864652 MESH:C537405" CL:0000235 "A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells." "BTO:0000801 FMA:63261 FMA:83585 CALOHA:TS-0587" MONDO:0015102 "Orphanet:101106" UBERON:0004530 @@ -15378,24 +15372,24 @@ UBERON:0010675 UBERON:0004797 HP:0003124 "An increased concentration of cholesterol in the blood." "SNOMEDCT_US:166830008 SNOMEDCT_US:13644009 MSH:D006937 UMLS:C0595929 UMLS:C0020443" MONDO:0000661 "An agnosia that is a deficiency in understanding, processing, or describing emotions." "DOID:0060131" -MONDO:0015101 "Orphanet:101104 ICD10:Q07.8 UMLS:CN197448" +MONDO:0015101 "Orphanet:101104 ICD10CM:Q07.8 UMLS:CN197448" NCBITaxon:7197 "GC_ID:1" NCBITaxon:816 "GC_ID:11" GO:0043462 "Any process that modulates the rate of ATP hydrolysis by an ATPase." HP:0001644 "Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis." "SNOMEDCT_US:195021004 MSH:D002311 SNOMEDCT_US:399020009 UMLS:C0007193 Fyler:1843" -MONDO:0009049 "A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS." "UMLS:CN200644 GARD:0010824 SCTID:720459002 ICD10:E24.8 OMIM:219080 Orphanet:189427 OMIM:615954 UMLS:C2062388 MESH:C565662" +MONDO:0009049 "A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS." "UMLS:CN200644 GARD:0010824 SCTID:720459002 OMIM:219080 Orphanet:189427 OMIM:615954 UMLS:C2062388 ICD10CM:E24.8 MESH:C565662" UBERON:0005996 UBERON:0003333 GO:0044853 "A membrane raft that is part of the plasma membrane." GO:0008172 "Catalysis of the transfer of a methyl group to the sulfur atom of an acceptor molecule." UBERON:0005730 UBERON:0003599 -MONDO:0004860 "A disease involving the vitreous humor." "ICD9:379.24 ICD10:H43.3 ICD10:H43.39 DOID:9720" +MONDO:0004860 "A disease involving the vitreous humor." "ICD9:379.24 DOID:9720" MONDO:0020694 "A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells." "NCIT:C35701" -MONDO:0019613 "A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome." "NCIT:C4348 DOID:5715 EFO:0008516 ICD10:D35.2 Orphanet:91349 SCTID:254962005" +MONDO:0019613 "A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome." "ICD10CM:D35.2 NCIT:C4348 DOID:5715 EFO:0008516 Orphanet:91349 SCTID:254962005" http://identifiers.org/hgnc/10959 -MONDO:0005502 "Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS)." "EFO:0005547 SCTID:38362002 ICD10:A97.1 OMIM:614371 ICD10:A97.9 MESH:D003715 UMLS:C0011311 NCIT:C34528 GARD:0006254 ICD10:A97.0 MedDRA:10012310 DOID:12205 ICD10:A97.2 UMLS:C0376300 ICD10:A90 Orphanet:99828 ICD9:061" -MONDO:0013293 "Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene." "ICD10:Q11.0 OMIM:613517 Orphanet:2542 DOID:0060835 UMLS:C3150757" +MONDO:0005502 "Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS)." "EFO:0005547 SCTID:38362002 OMIM:614371 MESH:D003715 UMLS:C0011311 NCIT:C34528 GARD:0006254 MedDRA:10012310 DOID:12205 UMLS:C0376300 Orphanet:99828 ICD9:061" +MONDO:0013293 "Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene." "OMIM:613517 Orphanet:2542 DOID:0060835 UMLS:C3150757" MONDO:0019061 "Orphanet:68415 UMLS:CN205542" ECTO:9000156 "An exposure to water." MONDO:0017129 "An instance of heart cancer that is caused by a modification of the individual's genome." "Orphanet:271841 UMLS:CN202528" @@ -15404,25 +15398,25 @@ UBERON:0010410 CHEBI:144644 HP:0000093 "Increased levels of protein in the urine." "UMLS:C0033687 MSH:D011507 SNOMEDCT_US:29738008" MONDO:0015586 "Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication." "UMLS:CN226709 Orphanet:163717 OMIM:614417 OMIM:611630 OMIM:615697" -MONDO:0015100 "SCTID:89112009 MedDRA:10054329 UMLS:C0553669 Orphanet:101096 ICD10:D46.7 UMLS:C0002893" +MONDO:0015100 "SCTID:89112009 MedDRA:10054329 UMLS:C0553669 Orphanet:101096 UMLS:C0002893" GO:0006956 "Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway." -MONDO:0015168 "Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures." "GARD:0000777 MedDRA:10051643 Orphanet:1037 OMIMPS:617468 ICD10:Q74.3" +MONDO:0015168 "Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures." "GARD:0000777 MedDRA:10051643 Orphanet:1037 OMIMPS:617468" NCBITaxon:815 "PMID:8300528 GC_ID:11" MONDO:0009488 "GARD:0003091 OMIM:244600 UMLS:C1855645" NCBITaxon:7198 "GC_ID:1 PMID:9835021" -MONDO:0017763 "ICD10:E83.1 UMLS:CN227206 Orphanet:309842" +MONDO:0017763 "UMLS:CN227206 Orphanet:309842" HP:0003271 "Abnormal increased size of the viscera of the abdomen." "UMLS:C0042782 SNOMEDCT_US:28543008" CHEBI:33832 "Any organic molecule that consists of atoms connected in the form of a ring." -MONDO:0009740 "Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997." "Orphanet:2673 MESH:C537388 ICD10:Q87.8 GARD:0003964 UMLS:C0796088 SCTID:725908007 OMIM:256690" +MONDO:0009740 "Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997." "Orphanet:2673 ICD10CM:Q87.8 MESH:C537388 GARD:0003964 UMLS:C0796088 SCTID:725908007 OMIM:256690" NCBITaxon:129369 "GC_ID:1" UBERON:0011875 CHEBI:33340 MONDO:0020046 "Orphanet:98098 UMLS:CN229259" -MONDO:0001966 "Chronic form of angle-closure glaucoma." "DOID:14445 UMLS:C0154947 SCTID:33647009 ICD9:365.23 ICD10:H40.22" +MONDO:0001966 "Chronic form of angle-closure glaucoma." "DOID:14445 UMLS:C0154947 SCTID:33647009 ICD9:365.23" HP:0011013 "A deviation from the normal concentration of a carbohydrate in the blood circulation." "UMLS:C4023599" UBERON:0003594 UBERON:0010411 -MONDO:0019353 "Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." "UMLS:C1855465 DOID:0050817 ICD10:H35.5 MedDRA:10062766 UMLS:C0271093 OMIM:603786 GARD:0000181 NCIT:C85078 SCTID:47673003 OMIM:600110 Orphanet:827 OMIM:248200" +MONDO:0019353 "Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion." "UMLS:C1855465 DOID:0050817 MedDRA:10062766 UMLS:C0271093 OMIM:603786 GARD:0000181 NCIT:C85078 SCTID:47673003 ICD10CM:H35.5 OMIM:600110 Orphanet:827 OMIM:248200" NCBITaxon:810 "PMID:21048221 GC_ID:11 PMID:10319462 PMID:11211265 PMID:23620152 PMID:9103632 PMID:21048222 PMID:25618261 PMID:9103637" UBERON:0019269 GO:0050966 "The series of events involved in the perception of pain in which a mechanical stimulus is received and converted into a molecular signal." @@ -15440,7 +15434,7 @@ http://identifiers.org/hgnc/17151 MONDO:0030981 "OMIM:619238" GO:0030073 "The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects." MONDO:0022687 "Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders." "UMLS:C0154671 GARD:0006019 NCIT:C84624 DOID:1443 SCTID:95646004 UMLS:C0262404 ICD9:331.9 SCTID:418143002" -MONDO:0001500 "A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery)." "SCTID:87991007 EFO:0008587 DOID:1234 ICD9:302.8 ICD10:F64.2 ICD9:302.89 NCIT:C94362 ICD9:302.6 ICD9:302.85" +MONDO:0001500 "A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery)." "SCTID:87991007 EFO:0008587 DOID:1234 ICD9:302.8 ICD9:302.89 NCIT:C94362 ICD9:302.6 ICD9:302.85" MONDO:0006569 "A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)" "EFO:1000723 UMLS:C0023219 DOID:3142 MESH:D007868" UBERON:0003593 MONDO:0006850 "A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "MedDRA:10026130 UMLS:C0024958 SCTID:126676009 DOID:1358 EFO:1001035 NCIT:C3219 MESH:D008444" @@ -15454,25 +15448,25 @@ UBERON:0001197 UBERON:0010412 CL:0000712 http://identifiers.org/hgnc/3960 -MONDO:0015240 "Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis." "OMIM:614335 OMIM:126050 UMLS:CN197602 Orphanet:1146 GARD:0000787 ICD10:Q68.8 OMIM:616266 UMLS:C1852085 UMLS:C0220662 OMIM:108120" -MONDO:0018904 "A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded." "ICD10:N00.5 OMIM:615008 OMIM:609814 GARD:0011982 OMIM:614809 ICD9:583.2 MedDRA:10018370 OMIM:305800 Orphanet:54370" +MONDO:0015240 "Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis." "OMIM:614335 OMIM:126050 UMLS:CN197602 Orphanet:1146 GARD:0000787 OMIM:616266 ICD10CM:Q68.8 UMLS:C1852085 UMLS:C0220662 OMIM:108120" +MONDO:0018904 "A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded." "ICD10CM:N00.5 OMIM:615008 OMIM:609814 GARD:0011982 OMIM:614809 ICD9:583.2 MedDRA:10018370 OMIM:305800 Orphanet:54370" MONDO:0020767 "A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted." "NCIT:C34453 SCTID:12454008 UMLS:C0007459 ICD9:344.61" CHEBI:16709 "A hydroxymethylpyridine with hydroxymethyl groups at positions 4 and 5, a hydroxy group at position 3 and a methyl group at position 2. The 4-methanol form of vitamin B6, it is converted intoto pyridoxal phosphate which is a coenzyme for synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid." -MONDO:0010294 "This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein." "UMLS:C1845987 GARD:0003981 MESH:C564539 SCTID:718882006 OMIM:300299 Orphanet:86788 ICD10:D70" +MONDO:0010294 "This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein." "UMLS:C1845987 ICD10CM:D70 MESH:C564539 GARD:0003981 SCTID:718882006 OMIM:300299 Orphanet:86788" UBERON:0004792 -MONDO:0017761 "Orphanet:309836 UMLS:CN227205 ICD10:E83.4 ICD10:E83.3 ICD10:E83.9 ICD10:E83.1 ICD10:E83.2 ICD10:E83.8 ICD10:E83.0 ICD10:E83.5" +MONDO:0017761 "Orphanet:309836 ICD10CM:E83.4 UMLS:CN227205 ICD10CM:E83.2 ICD10CM:E83.5 ICD10CM:E83.9 ICD10CM:E83.3 ICD10CM:E83.0 ICD10CM:E83.8 ICD10CM:E83.1" GO:0090154 "Any process that increases the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid)." -MONDO:0011441 "Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb." "ICD9:337.21 MedDRA:10064334 Orphanet:83452 UMLS:C0034931 MedDRA:10038249 ICD9:733.7 ICD10:M89.0 DOID:1811 ICD10:G90.5 ICD9:337.2 NCIT:C85042 SCTID:50642008 ICD9:337.29 ICD9:337.20 EFO:1001147 Orphanet:99995 MESH:D012019 OMIM:604335" -MONDO:0019911 "Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "ICD10:Q99.8 Orphanet:96180 SCTID:766238001" +MONDO:0011441 "Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb." "ICD9:337.21 MedDRA:10064334 Orphanet:83452 UMLS:C0034931 MedDRA:10038249 ICD9:733.7 ICD10CM:M89.0 DOID:1811 ICD9:337.2 NCIT:C85042 SCTID:50642008 ICD9:337.29 ICD9:337.20 EFO:1001147 Orphanet:99995 MESH:D012019 OMIM:604335" +MONDO:0019911 "Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "Orphanet:96180 SCTID:766238001 ICD10CM:Q99.8" UBERON:0011877 UBERON:0003596 CHR:9606-chr19q http://identifiers.org/hgnc/30372 GO:0001503 "The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance." -MONDO:0008026 "OMIM:158600 MESH:C563560 Orphanet:363447 ICD10:G12.1 UMLS:C1834690 Orphanet:209341" +MONDO:0008026 "OMIM:158600 MESH:C563560 ICD10CM:G12.1 Orphanet:363447 UMLS:C1834690 Orphanet:209341" http://identifiers.org/hgnc/8858 -MONDO:0007927 "SCTID:270516002 ICD10:Q38.2 ICD9:750.15 Orphanet:2430 MESH:C531735 UMLS:C0024421 OMIM:153630" -MONDO:0016599 "Autosomal dominant form of secondary polycythemia." "OMIM:611783 UMLS:CN201790 Orphanet:247511 ICD10:D75.1 OMIM:609820" +MONDO:0007927 "SCTID:270516002 ICD9:750.15 Orphanet:2430 MESH:C531735 UMLS:C0024421 ICD10CM:Q38.2 OMIM:153630" +MONDO:0016599 "Autosomal dominant form of secondary polycythemia." "OMIM:611783 UMLS:CN201790 ICD10CM:D75.1 Orphanet:247511 OMIM:609820" GO:1903011 "Any process that stops, prevents or reduces the frequency, rate or extent of bone development." UBERON:0002398 UBERON:0005991 @@ -15494,11 +15488,11 @@ GO:1900016 "Any process that stops, prevents or reduces the frequency, rate or e GO:0140053 "The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form." UBERON:0004793 MONDO:0044258 "OMIM:250650" -MONDO:0004619 "A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR)." "EFO:1002025 SCTID:14189004 GARD:0003434 NCIT:C96406 ICD10:B05 MESH:D008457 DOID:8622 ICD10:B05.9 ICD9:055 UMLS:C0025007" +MONDO:0004619 "A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR)." "EFO:1002025 SCTID:14189004 ICD10CM:B05 GARD:0003434 NCIT:C96406 MESH:D008457 DOID:8622 ICD9:055 UMLS:C0025007" http://identifiers.org/hgnc/4061 CHR:9606-chr19p http://identifiers.org/hgnc/8859 -MONDO:0018114 "Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges." "OMIM:615314 ICD10:Q75.0 OMIM:616602 OMIM:123100 Orphanet:35099" +MONDO:0018114 "Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges." "OMIM:615314 OMIM:616602 OMIM:123100 Orphanet:35099 ICD10CM:Q75.0" MONDO:0008027 "OMIM:158650 MESH:C563559 UMLS:C1834689" UBERON:0005992 MONDO:0022446 @@ -15509,37 +15503,36 @@ UBERON:0002397 MONDO:0007929 "UMLS:C0398641 NCIT:C131639" MONDO:0033717 "A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume." "Orphanet:512260" CL:0000745 "A neuron that laterally connects other neurons in the inner nuclear layer of the retina." "BTO:0004120" -MONDO:0007073 "Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person." "Orphanet:989 OMIM:103300 ICD10:Q87.2 GARD:0000068 SCTID:35031005 ICD9:759.89" +MONDO:0007073 "Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person." "Orphanet:989 OMIM:103300 GARD:0000068 SCTID:35031005 ICD9:759.89 ICD10CM:Q87.2" GO:0016311 "The process of removing one or more phosphoric (ester or anhydride) residues from a molecule." GO:0098609 "The attachment of one cell to another cell via adhesion molecules." MONDO:0014318 "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene." "OMIM:615716 UMLS:C3810354 Orphanet:247262" -MONDO:0015344 "Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement." "ICD10:G37.3 Orphanet:139423" -MONDO:0007618 "Eng-Strom syndrome is characterised by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant." "UMLS:C2931545 OMIM:135950 ICD10:Q87.1 Orphanet:1937" +MONDO:0015344 "Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement." "Orphanet:139423 ICD10CM:G37.3" +MONDO:0007618 "Eng-Strom syndrome is characterised by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant." "UMLS:C2931545 OMIM:135950 ICD10CM:Q87.1 Orphanet:1937" MONDO:0003401 "A yolk sac tumor that arises from the central nervous system and occurs during childhood." "NCIT:C6209 DOID:5343 NCIT:C7011" UBERON:0004794 NCBITaxon:27479 "GC_ID:1" -MONDO:0013162 "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." "Orphanet:206559 GARD:0012539 DOID:0110298 OMIM:613158 ICD10:G71.0 UMLS:C3150418" +MONDO:0013162 "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." "Orphanet:206559 ICD10CM:G71.0 GARD:0012539 DOID:0110298 OMIM:613158 UMLS:C3150418" UBERON:0001199 MONDO:0011258 "Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene." "Orphanet:52429 OMIM:602588 UMLS:C1865143" HP:0000766 "An anomaly of the sternum, also known as the breastbone." "UMLS:C1860493" -MONDO:0002494 "A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs)." "MESH:D019966 DOID:303 NCIT:C92203" +MONDO:0002494 "A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs)." "ICD10CM:F10-F19 MESH:D019966 DOID:303 NCIT:C92203" UBERON:0002392 MONDO:0022691 "GARD:0001198" HP:0001944 "SNOMEDCT_US:34095006 MSH:D003681 UMLS:C0011175" MONDO:0020030 "Orphanet:98056 UMLS:CN206955" -MONDO:0008713 "Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." "DOID:0050605 ICD9:686.8 SCTID:37702000 NCIT:C128802 GARD:0006343 Orphanet:37 OMIM:201100 ICD10:E83.2 UMLS:C0221036 MESH:C538178 GARD:0005723" +MONDO:0008713 "Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure." "DOID:0050605 ICD9:686.8 SCTID:37702000 ICD10CM:E83.2 NCIT:C128802 GARD:0006343 Orphanet:37 OMIM:201100 UMLS:C0221036 MESH:C538178 GARD:0005723" http://identifiers.org/hgnc/10978 MONDO:0019044 "Orphanet:68347 UMLS:CN205528" GO:1903941 "Any process that stops, prevents or reduces the frequency, rate or extent of respiratory gaseous exchange." UBERON:0003590 -MONDO:0014188 UBERON:0001194 -MONDO:0017748 "ICD10:E77.8 UMLS:CN227194 Orphanet:309515" +MONDO:0017748 "UMLS:CN227194 Orphanet:309515 ICD10CM:E77.8" CL:1000804 "KUPO:0001094" UBERON:0035805 NCBITaxon:2601530 "GC_ID:1" -MONDO:0015584 "Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness." "Orphanet:163703 ICD10:G40.5 GARD:0011005 UMLS:CN199955 SCTID:725413002" -MONDO:0013367 "An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." "Orphanet:101016 GARD:0003285 UMLS:C3150943 MESH:C563614 ICD10:I45.8 NCIT:C137957 Orphanet:768 OMIM:613688 HGNC:6251 DOID:0110645" +MONDO:0015584 "Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness." "Orphanet:163703 GARD:0011005 UMLS:CN199955 ICD10CM:G40.5 SCTID:725413002" +MONDO:0013367 "An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." "Orphanet:101016 GARD:0003285 UMLS:C3150943 MESH:C563614 NCIT:C137957 Orphanet:768 OMIM:613688 HGNC:6251 DOID:0110645" HP:0000272 "Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation." "UMLS:C4280651 UMLS:C1858085" http://identifiers.org/hgnc/25419 http://identifiers.org/hgnc/11075 @@ -15550,41 +15543,41 @@ UBERON:0010417 MONDO:0019043 "Orphanet:68346" MONDO:0002766 "A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction." "UMLS:C0280328 SCTID:707427000 NCIT:C8188 DOID:3752" MONDO:0018751 "An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome." "Orphanet:466084 UMLS:CN242186" -MONDO:0020089 "An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual." "ICD10:E88.1 MedDRA:10049287 Orphanet:98307 UMLS:C0877192" -MONDO:0017749 "ICD10:E77.8 Orphanet:309526 UMLS:CN227195" +MONDO:0020089 "An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual." "MedDRA:10049287 Orphanet:98307 ICD10CM:E88.1 UMLS:C0877192" +MONDO:0017749 "ICD10CM:E77.8 Orphanet:309526 UMLS:CN227195" CL:1000410 "A muscle cell that is part of the atrioventricular node." "FMA:67106" UBERON:0001193 MONDO:0006165 "A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." "EFO:1000198 UMLS:C1707442 NCIT:C43588" MONDO:0024282 "An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma." "ONCOTREE:MOV UMLS:C1518233 NCIT:C40033" -MONDO:0001843 "DOID:13955 UMLS:C0153994 ICD9:218.1 ICD10:D25.1 SCTID:93616000" +MONDO:0001843 "ICD10CM:D25.1 DOID:13955 UMLS:C0153994 ICD9:218.1 SCTID:93616000" CHEBI:28659 -MONDO:0015303 "Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis." "Orphanet:137814 ICD10:L99.0* UMLS:C0544839 ICD10:E85.4+" -MONDO:0011048 "Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children." "OMIM:601352 ICD10:Q87.8 Orphanet:1948 GARD:0000836" -MONDO:0011408 "Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case." "OMIM:604187 MESH:C537482 SCTID:732948003 GARD:0009590 UMLS:C1858712 Orphanet:100991 ICD10:G11.4 UMLS:C4518536 DOID:0110763" +MONDO:0015303 "Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis." "Orphanet:137814 ICD10EXP:L99.0* ICD10EXP:E85.4+ UMLS:C0544839" +MONDO:0011048 "Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children." "OMIM:601352 ICD10CM:Q87.8 Orphanet:1948 GARD:0000836" +MONDO:0011408 "Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case." "OMIM:604187 MESH:C537482 SCTID:732948003 GARD:0009590 UMLS:C1858712 Orphanet:100991 ICD10CM:G11.4 UMLS:C4518536 DOID:0110763" UBERON:0035804 -MONDO:0016549 "ICD10:Q62.2 Orphanet:238642 UMLS:CN201632" -MONDO:0100325 "Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." "Orphanet:166272 OMIM:184260 GARD:0008717 UMLS:CN200045 ICD10:Q78.8 SCTID:717823001" +MONDO:0016549 "ICD10CM:Q62.2 Orphanet:238642 UMLS:CN201632" +MONDO:0100325 "Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta." "Orphanet:166272 OMIM:184260 GARD:0008717 UMLS:CN200045 SCTID:717823001 ICD10CM:Q78.8" UBERON:0002394 MONDO:0042705 "UMLS:C2931457 GARD:0000149 MESH:C537244" -MONDO:0020298 "ICD10:Q87.1 UMLS:CN207093 Orphanet:98754" +MONDO:0020298 "ICD10CM:Q87.1 UMLS:CN207093 Orphanet:98754" MONDO:0044267 "HGNC:4211" MONDO:0000402 "A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble \"oat cells\" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early." "MESH:D018288 SCTID:11010461000119101 UMLS:C0262584 DOID:0050685 EFO:0008524 ICDO:8042/3 UMLS:C0334239 NCIT:C3915 ICDO:8041/3" MONDO:0012628 "OMIM:611139" UBERON:0016516 UBERON:0010418 UBERON:0003592 -MONDO:0017093 "Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement." "Orphanet:268947 ICD10:Q04.3" +MONDO:0017093 "Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement." "ICD10CM:Q04.3 Orphanet:268947" MONDO:0043069 "GARD:0000338 MESH:C536724 UMLS:C2931301" CL:0000077 "A flattened epithelial cell of mesenchymal origin that lines the serous cavity." "FMA:66773" UBERON:0001196 -MONDO:0012412 "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene." "ICD10:D84.1 UMLS:C1864694 OMIM:610102 DOID:0060300 Orphanet:169150 MESH:C566443" -MONDO:0019858 "Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown." "Orphanet:95717 SCTID:717334008 UMLS:C4273913 ICD10:E03.1" +MONDO:0012412 "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene." "UMLS:C1864694 OMIM:610102 DOID:0060300 Orphanet:169150 MESH:C566443" +MONDO:0019858 "Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown." "Orphanet:95717 SCTID:717334008 ICD10CM:E03.1 UMLS:C4273913" HP:0011008 "The speed at which disease manifestations appear and develop." "UMLS:C4021204" http://identifiers.org/hgnc/10975 HP:0032154 "Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border." MONDO:0040753 "Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives." "SCTID:11999007 UMLS:C1609538 MESH:D055985" MONDO:0001840 -MONDO:0006607 "A disease involving the sebaceous gland." "EFO:1000763 MESH:D012625 UMLS:C0036502 ICD10:L70.8 DOID:9098 SCTID:3441005 ICD9:706.1" +MONDO:0006607 "A disease involving the sebaceous gland." "EFO:1000763 MESH:D012625 UMLS:C0036502 DOID:9098 SCTID:3441005 ICD9:706.1" CHR:9606-chr2p12-p11.2 NCBITaxon:131567 "GC_ID:1" http://identifiers.org/hgnc/11073 @@ -15598,9 +15591,9 @@ MONDO:0003993 "A morphologic variant of embryonal rhabdomyosarcoma occurring in MONDO:0005293 "An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground." "ICD9:734 MESH:D005413 NCIT:C34616 SCTID:53226007 EFO:0003874" MONDO:0013876 "Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene." "OMIM:614740" http://identifiers.org/hgnc/29110 -MONDO:0019981 "Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." "Orphanet:97363 ICD10:Q61.4 MESH:D021782" +MONDO:0019981 "Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." "Orphanet:97363 MESH:D021782 ICD10CM:Q61.4" CL:1000803 "KUPO:0001093" -MONDO:0017747 "UMLS:CN227193 ICD10:E77.8 Orphanet:309505" +MONDO:0017747 "UMLS:CN227193 ICD10CM:E77.8 Orphanet:309505" http://identifiers.org/hgnc/28178 GO:0016525 "Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis." UBERON:0004790 @@ -15611,77 +15604,77 @@ MONDO:0044265 "OMIM:314240" MONDO:0043346 "Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma." "MESH:C548085 GARD:0010712 NCIT:C38408" UBERON:0016514 GO:0060271 "The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole." -MONDO:0016547 "UMLS:CN201629 ICD10:Q87.3 Orphanet:238613 OMIM:130650" -MONDO:0018942 "Orphanet:592 UMLS:C2931639 SCTID:718175009 GARD:0000176 ICD10:M60.8 MESH:C537829" +MONDO:0016547 "UMLS:CN201629 ICD10CM:Q87.3 Orphanet:238613 OMIM:130650" +MONDO:0018942 "Orphanet:592 UMLS:C2931639 SCTID:718175009 GARD:0000176 ICD10CM:M60.8 MESH:C537829" GO:0060760 "Any process that increases the rate, frequency, or extent of a response to cytokine stimulus." MONDO:0020292 "MedDRA:10061080 Orphanet:98724" MONDO:0100429 "A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery." "MESH:C535932 Orphanet:69665" http://identifiers.org/hgnc/30100 MONDO:0001706 "Sarcoidosis of the cerebrum." "UMLS:C0398676 SCTID:111936002 NCIT:C35441 DOID:13403" -MONDO:0013387 "KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability." "ICD10:G40.4 Orphanet:439218 GARD:0013060 UMLS:C3150986 DOID:0080462 OMIM:613720" +MONDO:0013387 "KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability." "Orphanet:439218 ICD10CM:G40.4 GARD:0013060 UMLS:C3150986 DOID:0080462 OMIM:613720" GO:0045655 "Any process that modulates the frequency, rate or extent of monocyte differentiation." UBERON:0035809 -MONDO:0013411 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene." "DOID:0110250 ICD10:Q12.0 OMIM:613763 Orphanet:98993 MESH:C565134 Orphanet:91492 Orphanet:98995" -MONDO:0006525 "An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak." "ICD9:692.9 MESH:D017449 ICD10:L23 ICD10:L23.9 SCTID:238575004 NCIT:C26998 UMLS:C0162820 EFO:1000668 DOID:3042" +MONDO:0013411 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene." "DOID:0110250 OMIM:613763 Orphanet:98993 MESH:C565134 Orphanet:91492 Orphanet:98995" +MONDO:0006525 "An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak." "ICD10CM:L23 ICD9:692.9 MESH:D017449 SCTID:238575004 NCIT:C26998 UMLS:C0162820 EFO:1000668 DOID:3042" UBERON:0001190 http://identifiers.org/hgnc/12011 -MONDO:0017744 "ICD10:E77.8 Orphanet:309463 UMLS:CN227191" -MONDO:0013292 "The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." "UMLS:C3150756 OMIM:613509 ICD10:Q93.5 SCTID:719660008 UMLS:C4304530 Orphanet:238750 DOID:0060420" +MONDO:0017744 "Orphanet:309463 ICD10CM:E77.8 UMLS:CN227191" +MONDO:0013292 "The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." "UMLS:C3150756 OMIM:613509 ICD10CM:Q93.5 SCTID:719660008 UMLS:C4304530 Orphanet:238750 DOID:0060420" GO:0099171 "Any process, acting in the presynapse that results in modulation of chemical synaptic transmission." CHEBI:16134 "An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms." -MONDO:0011475 "Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported." "OMIM:604563 UMLS:C1858278 DOID:0110190 MESH:C535421 GARD:0009200 SCTID:715800000 Orphanet:99956 ICD10:G60.0" +MONDO:0011475 "Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported." "OMIM:604563 UMLS:C1858278 DOID:0110190 MESH:C535421 ICD10CM:G60.0 GARD:0009200 SCTID:715800000 Orphanet:99956" MONDO:0005185 "An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system." "DOID:6776 Wikipedia:Juvenile_idiopathic_arthritis SCTID:410793008 EFO:0002609 NCIT:C27179 DOID:676" MONDO:0014674 "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene." "OMIM:616511 UMLS:C4225299 DOID:0111111" MONDO:0042968 MONDO:0021169 "A hemangioma characterized by the presence of epithelioid endothelial cells." "ICDO:9125/0 DOID:474 NCIT:C4298 MESH:D006391 UMLS:C0205788" HP:0001114 "The presence of xanthomata in the skin of the eyelid." "UMLS:C4280601 UMLS:C0302314 SNOMEDCT_US:6400008 MSH:D014973 SNOMEDCT_US:75594004 UMLS:C0155210 SNOMEDCT_US:63103006 UMLS:C4280602" UBERON:0016515 -MONDO:0020370 "Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." "UMLS:C1168173 GARD:0006125 NCIT:C84644 SCTID:404633004 DOID:0060217 ICD10:H21.2 Orphanet:98980 MedDRA:10059200" -MONDO:0007735 "Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported." "OMIM:143000 Orphanet:91413 UMLS:C1840475 ICD10:G90.2 MESH:C564178 HP:0006837" +MONDO:0020370 "Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." "UMLS:C1168173 GARD:0006125 NCIT:C84644 SCTID:404633004 DOID:0060217 ICD10CM:H21.2 Orphanet:98980 MedDRA:10059200" +MONDO:0007735 "Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported." "OMIM:143000 Orphanet:91413 UMLS:C1840475 ICD10CM:G90.2 MESH:C564178 HP:0006837" http://identifiers.org/hgnc/13210 http://identifiers.org/hgnc/11079 MONDO:0022694 "GARD:0001202" MONDO:0044264 "OMIM:312200" -MONDO:0020293 "Orphanet:98725 ICD10:Q25.4" +MONDO:0020293 "Orphanet:98725 ICD10CM:Q25.4" MONDO:0016146 "A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals" "UMLS:CN043575 Orphanet:207078" MONDO:0025190 http://identifiers.org/hgnc/12012 -MONDO:0017745 "ICD10:E77.8 Orphanet:309469 UMLS:CN227192" -MONDO:0009664 "A prenatal onset growth disorder with multiorgan manifestations." "GARD:0000095 SCTID:81604003 NCIT:C84906 ICD10:Q87.1 MESH:D050336 OMIM:253250 UMLS:C2931895 Orphanet:2576 DOID:0050436 UMLS:C0524582 ICD9:759.89" +MONDO:0017745 "ICD10CM:E77.8 Orphanet:309469 UMLS:CN227192" +MONDO:0009664 "A prenatal onset growth disorder with multiorgan manifestations." "GARD:0000095 SCTID:81604003 NCIT:C84906 MESH:D050336 ICD10CM:Q87.1 OMIM:253250 UMLS:C2931895 Orphanet:2576 DOID:0050436 UMLS:C0524582 ICD9:759.89" HP:0005656 "A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies." "UMLS:C4025161" -MONDO:0012335 "Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin." "Orphanet:71526 SCTID:702949005 OMIM:609734 UMLS:C1857854 OMIM:601665 GARD:0010823 ICD10:E66.8 MESH:C565726 ICD9:255.5" -MONDO:0015738 "Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." "Orphanet:171439 OMIM:609285 GARD:0007171 OMIM:161800 ICD10:G71.2 OMIM:615731 OMIM:609273 OMIM:256030 OMIM:609284" +MONDO:0012335 "Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin." "Orphanet:71526 SCTID:702949005 OMIM:609734 UMLS:C1857854 OMIM:601665 GARD:0010823 ICD10CM:E66.8 MESH:C565726 ICD9:255.5" +MONDO:0015738 "Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction." "Orphanet:171439 OMIM:609285 GARD:0007171 OMIM:161800 OMIM:615731 OMIM:609273 OMIM:256030 ICD10CM:G71.2 OMIM:609284" GO:0045619 "Any process that modulates the frequency, rate or extent of lymphocyte differentiation." GO:0035369 "An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins." -MONDO:0000453 "A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified" "NCIT:C71060 ICD9:426.89 OMIMPS:609620 OMIM:609622 MESH:C580439 UMLS:C2348199 SCTID:698272007 DOID:0050793 OMIM:609621 ICD10:I49.8 OMIM:609620 Orphanet:51083" +MONDO:0000453 "A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified" "NCIT:C71060 ICD9:426.89 OMIMPS:609620 OMIM:609622 MESH:C580439 UMLS:C2348199 SCTID:698272007 DOID:0050793 OMIM:609621 OMIM:609620 ICD10CM:I49.8 Orphanet:51083" UBERON:0016512 GO:0045144 "The cell cycle process in which sister chromatids are organized and then physically separated and randomly apportioned to two sets during the second division of the meiotic cell cycle." -MONDO:0015291 "Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases." "UMLS:C1318020 Orphanet:137599 ICD10:H16.3" +MONDO:0015291 "Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases." "UMLS:C1318020 ICD10CM:H16.3 Orphanet:137599" UBERON:0002390 MONDO:0022693 "GARD:0001201" MONDO:0019042 "Orphanet:68341" -MONDO:0020294 "Orphanet:98727 ICD10:Q21.1" -MONDO:0017627 "Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus." "ICD10:Q87.0 OMIM:604185 OMIM:614744 Orphanet:306530 SCTID:722389002" -MONDO:0018094 "Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." "OMIM:606662 SCTID:715952000 OMIM:600193 ICD10:E70.3 NCIT:C85222 UMLS:C1847800 OMIM:611584 Orphanet:895 OMIM:193500 OMIM:193510 GARD:0005525 OMIMPS:193500 DOID:9258 OMIM:608890 NCIT:C75008 OMIM:148820 MedDRA:10069203 Orphanet:3440" +MONDO:0020294 "Orphanet:98727 ICD10CM:Q21.1" +MONDO:0017627 "Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus." "ICD10CM:Q87.0 OMIM:604185 OMIM:614744 Orphanet:306530 SCTID:722389002" +MONDO:0018094 "Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." "OMIM:606662 SCTID:715952000 OMIM:600193 NCIT:C85222 UMLS:C1847800 OMIM:611584 Orphanet:895 OMIM:193500 OMIM:193510 ICD10CM:E70.3 GARD:0005525 OMIMPS:193500 DOID:9258 OMIM:608890 NCIT:C75008 OMIM:148820 MedDRA:10069203 Orphanet:3440" MONDO:0014122 "Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene." "OMIM:615293 Orphanet:2591 UMLS:C3809084" GO:0010883 "Any process that modulates the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development." MONDO:0002628 "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." "NCIT:C7134 UMLS:C1332591 DOID:3374" -MONDO:0001478 "A condition of an inequality of refractive power of the two eyes." "ICD9:367.31 HP:0012803 SCTID:3289004 DOID:12273 UMLS:C0003081 CSP:1116-1678 MESH:D015858 ICD10:H52.31" +MONDO:0001478 "A condition of an inequality of refractive power of the two eyes." "ICD9:367.31 HP:0012803 SCTID:3289004 DOID:12273 UMLS:C0003081 CSP:1116-1678 MESH:D015858 ICD10CM:H52.31" MONDO:0013242 "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene." "SCTID:609578001 UMLS:C3150618 OMIM:613375 Orphanet:552 DOID:0111109" -MONDO:0012808 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene." "ICD10:I42.0 DOID:0110428 MESH:C567407 OMIM:612158 UMLS:C2677338" +MONDO:0012808 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene." "ICD10CM:I42.0 DOID:0110428 MESH:C567407 OMIM:612158 UMLS:C2677338" MONDO:0014229 "Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome." "Orphanet:2470 OMIM:615524 GARD:0013235 UMLS:C3809803" -MONDO:0005903 "Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart." "EFO:0007426 SCTID:67256000 ICD9:017.90 DOID:4962 ICD10:A18.84 MESH:D010495 UMLS:C0031049" +MONDO:0005903 "Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart." "EFO:0007426 SCTID:67256000 ICD9:017.90 DOID:4962 MESH:D010495 UMLS:C0031049" HP:0002104 "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." "UMLS:C0003578 SNOMEDCT_US:248583008 MSH:D001049 SNOMEDCT_US:1023001" -MONDO:0018305 "Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." "OMIM:613960 DOID:3265 ICD10:D71 OMIM:233670 OMIM:233690 GARD:0006100 SCTID:387759001 NCIT:C26788 OMIM:233710 OMIM:306400 Orphanet:379 MedDRA:10008906 OMIMPS:306400 UMLS:C0018203 OMIM:138990 OMIM:233700 MESH:D006105" +MONDO:0018305 "Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas." "OMIM:613960 ICD10CM:D71 DOID:3265 OMIM:233670 OMIM:233690 GARD:0006100 SCTID:387759001 NCIT:C26788 OMIM:233710 OMIM:306400 Orphanet:379 MedDRA:10008906 OMIMPS:306400 UMLS:C0018203 OMIM:138990 OMIM:233700 MESH:D006105" http://identifiers.org/hgnc/14674 -MONDO:0015690 "A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss." "DOID:0080166 ONCOTREE:MLNPDGFRB Orphanet:168950 ICD10:D47.1 ICDO:9966/3 NCIT:C84276 SCTID:724642009 UMLS:C2827361" +MONDO:0015690 "A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss." "DOID:0080166 ONCOTREE:MLNPDGFRB Orphanet:168950 ICDO:9966/3 NCIT:C84276 SCTID:724642009 UMLS:C2827361 ICD10CM:D47.1" MONDO:0003083 "A rare slow growing benign tumor of aberrant and ectatic venous connections." "UMLS:C0334532 SCTID:403968005 ICD9:228.09 DOID:467 ICDO:9122/0 NCIT:C4296" -MONDO:0017742 "Orphanet:309450 UMLS:CN227189 ICD10:E77.8" +MONDO:0017742 "ICD10CM:E77.8 Orphanet:309450 UMLS:CN227189" MONDO:0003971 "A carcinoma that arises from the pylorus." "DOID:6703 NCIT:C6795 UMLS:C1333787" HP:0004357 "Any deviation from the normal circulation of leucine in the blood circulation." "UMLS:C4025341" GO:0140657 "A molecular function characterized by the coupling of ATP hydrolysis to other steps of a reaction mechanism to make the reaction energetically favorable, for example to catalyze a reaction or drive transport against a concentration gradient." UBERON:0016513 -MONDO:0018920 "Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery." "ICD9:674.54 GARD:0000220 Orphanet:563 SCTID:62377009 UMLS:C0269972 ICD10:O90.3 MedDRA:10049430 EFO:0002628 ICD9:674.5 DOID:9997" +MONDO:0018920 "Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery." "ICD9:674.54 GARD:0000220 ICD10CM:O90.3 Orphanet:563 SCTID:62377009 UMLS:C0269972 MedDRA:10049430 EFO:0002628 ICD9:674.5 DOID:9997" PATO:0001501 "A quality inhering in a bearer by virtue of the bearer's lacking complete growth, differentiation, or development." MONDO:0044262 "OMIM:304300" MONDO:0019041 "UMLS:CN205525 Orphanet:68336" @@ -15691,59 +15684,59 @@ GO:0010563 "Any process that decreases the frequency, rate or extent of the chem http://identifiers.org/hgnc/12010 MONDO:0044079 "A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ." "SCTID:445236007 MESH:D059347 UMLS:C2242703 NCIT:C123225 EFO:1001262" MONDO:0011891 "A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype." "Orphanet:36387 UMLS:C1858674 OMIM:611277 UMLS:C1843244 Orphanet:64280 MESH:C565811 DOID:0111298 OMIM:607681" -MONDO:0015537 "A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement." "Orphanet:158011 ICD10:D76.3 UMLS:C1275339 SCTID:404164003 GARD:0010951 EFO:1001376 MESH:D058252 ICD9:709.8" +MONDO:0015537 "A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement." "ICD10CM:D76.3 Orphanet:158011 UMLS:C1275339 SCTID:404164003 GARD:0010951 EFO:1001376 MESH:D058252 ICD9:709.8" MONDO:0600011 "Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood." -MONDO:0012943 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene." "ICD10:H35.5 Orphanet:791 UMLS:C2675496 DOID:0110409 OMIM:612572 MESH:C567249" +MONDO:0012943 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene." "Orphanet:791 UMLS:C2675496 DOID:0110409 OMIM:612572 MESH:C567249" http://identifiers.org/hgnc/14673 UBERON:0001191 HP:0009064 "Generalized degenerative changes of the fat tissue." "SNOMEDCT_US:284449005 UMLS:C0221032 MSH:D052497 SNOMEDCT_US:86907008" -MONDO:0017743 "Orphanet:309458 ICD10:E77.8 UMLS:CN227190" +MONDO:0017743 "Orphanet:309458 ICD10CM:E77.8 UMLS:CN227190" CL:0000187 "A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns." "BTO:0000902 WBbt:0003675 BTO:0000888 CALOHA:TS-2032 FBbt:00005074 FMA:67328" -MONDO:0011672 "Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly." "ICD10:I72.8 MESH:C564707 OMIM:606445 UMLS:C1847973 SCTID:763864008 Orphanet:300324" +MONDO:0011672 "Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly." "ICD10CM:I72.8 MESH:C564707 OMIM:606445 UMLS:C1847973 SCTID:763864008 Orphanet:300324" MONDO:0005602 "A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor." "SCTID:716077006 EFO:0006463 DOID:5567 NCIT:C8110 UMLS:C0280131" MONDO:0700017 "Chromosomal disorder in which chromosome 10 is affected." UBERON:0016510 -MONDO:0019263 "Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." "MedDRA:10015289 MESH:D046351 Orphanet:79278 OMIM:177000 ICD10:E80.0" +MONDO:0019263 "Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." "ICD10CM:E80.0 MedDRA:10015289 MESH:D046351 Orphanet:79278 OMIM:177000" FOODON:00002244 MONDO:0100453 "A retinopathy caused by biallelic variants in the GUCY2D gene." -MONDO:0006827 "A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking." "ICD9:437.1 NCIT:C84807 GARD:0009263 MESH:D014854 ICD10:G46.3 DOID:3522 EFO:1001011 MedDRA:10024033 SCTID:78569004 UMLS:C0043019" +MONDO:0006827 "A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking." "ICD9:437.1 NCIT:C84807 GARD:0009263 MESH:D014854 DOID:3522 EFO:1001011 MedDRA:10024033 SCTID:78569004 UMLS:C0043019" MONDO:0044261 "OMIM:300488" -MONDO:0006486 "A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." "OMIM:606660 NCIT:C7712 MESH:C536494 UMLS:C0346388 DOID:6039 OMIM:606661 ONCOTREE:UM Orphanet:39044 GARD:0008621 UMLS:C0220633 EFO:1000616 OMIM:155720 ICD10:C69.3 MedDRA:10061252" +MONDO:0006486 "A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B." "OMIM:606660 NCIT:C7712 MESH:C536494 UMLS:C0346388 ICD10CM:C69.3 DOID:6039 OMIM:606661 ONCOTREE:UM Orphanet:39044 GARD:0008621 UMLS:C0220633 EFO:1000616 OMIM:155720 MedDRA:10061252" http://identifiers.org/hgnc/3948 UBERON:0006929 MONDO:0003064 "A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern." "DOID:4630 UMLS:C0334269 ICDO:8121/1 NCIT:C4118" GO:0090022 "Any process that modulates the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding." -MONDO:0016630 "Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery." "UMLS:CN201837 Orphanet:248340 ICD10:D69.1" -MONDO:0014180 "OMIM:615425 ICD10:Q81.0 UMLS:C3809470 Orphanet:412181" +MONDO:0016630 "Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery." "ICD10CM:D69.1 UMLS:CN201837 Orphanet:248340" +MONDO:0014180 "OMIM:615425 UMLS:C3809470 ICD10CM:Q81.0 Orphanet:412181" MONDO:0100055 "Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene." "NCIT:C178236" MONDO:0010358 "Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene." "OMIM:300554 DOID:0080353" -MONDO:0017137 "Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy." "UMLS:C0029002 MESH:D009855 MedDRA:10030314 DOID:11678 ICD10:B73 MESH:D015827 GARD:0007252 Orphanet:2737 SCTID:38539003 ICD9:125.3 MedDRA:10039202 NCIT:C34861 EFO:0007402 UMLS:C0029001" +MONDO:0017137 "Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy." "UMLS:C0029002 MESH:D009855 MedDRA:10030314 DOID:11678 ICD10CM:B73 MESH:D015827 GARD:0007252 Orphanet:2737 SCTID:38539003 ICD9:125.3 MedDRA:10039202 NCIT:C34861 EFO:0007402 UMLS:C0029001" UBERON:0016511 UBERON:0007026 -MONDO:0008488 "Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder." "ICD10:Q87.8 GARD:0002727 OMIM:184705 Orphanet:3186 UMLS:C1866649 SCTID:716233007 MESH:C566655" +MONDO:0008488 "Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder." "GARD:0002727 OMIM:184705 Orphanet:3186 UMLS:C1866649 SCTID:716233007 ICD10CM:Q87.8 MESH:C566655" MONDO:0003148 MONDO:0005875 "A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea." "DOID:2929 UMLS:C0027983 EFO:0007395 MESH:D009521 NCIT:C34849" MONDO:0004426 "A meningioma that affects the frontal sulcus." "DOID:8000 UMLS:C1333643 NCIT:C5292" -MONDO:0016026 "An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown." "Orphanet:1943 SCTID:724274009 UMLS:C4510564 ICD10:G40.4 GARD:0002995" -MONDO:0009925 "An autosomal recessive form of PXE." "Orphanet:758 OMIM:264800 DOID:2738 NCIT:C85036 SCTID:72744008 OMIM:177850 UMLS:C0033847 SCTID:252246005 ICD9:757.39 MedDRA:10037150 ICD10:Q82.8 SCTID:402782006 MESH:D011561" +MONDO:0016026 "An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown." "Orphanet:1943 SCTID:724274009 UMLS:C4510564 GARD:0002995 ICD10CM:G40.4" +MONDO:0009925 "An autosomal recessive form of PXE." "Orphanet:758 OMIM:264800 ICD10CM:Q82.8 DOID:2738 NCIT:C85036 SCTID:72744008 OMIM:177850 UMLS:C0033847 SCTID:252246005 ICD9:757.39 MedDRA:10037150 SCTID:402782006 MESH:D011561" MONDO:0011685 "OMIM:606581" MONDO:0014135 "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene." "UMLS:C3809192 Orphanet:422 OMIM:615343" MONDO:0044260 "HGNC:7832" -MONDO:0019362 "A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis." "ICD10:A75.0 NCIT:C84689 Orphanet:83314 DOID:0050480 MedDRA:10014979" -MONDO:0001212 "A otitis media which involves transudation of fluid in the middle ear without pus formation." "ICD9:381.4 SCTID:275481002 ICD10:H65 ICD10:H65.9 ICD10:H65.90 DOID:11180 UMLS:C0271446" -MONDO:0001121 "An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus." "UMLS:C0016735 MESH:D015522 SCTID:78737005 ICD10:J32.1 DOID:10791 NCIT:C34626" +MONDO:0019362 "A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis." "NCIT:C84689 Orphanet:83314 DOID:0050480 MedDRA:10014979" +MONDO:0001212 "A otitis media which involves transudation of fluid in the middle ear without pus formation." "ICD9:381.4 SCTID:275481002 DOID:11180 UMLS:C0271446" +MONDO:0001121 "An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus." "UMLS:C0016735 MESH:D015522 SCTID:78737005 ICD10CM:J32.1 DOID:10791 NCIT:C34626" GO:0008757 "Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to a substrate." MONDO:0014217 "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene." "UMLS:C3809710 Orphanet:774 OMIM:615506" MONDO:0014408 "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene." "UMLS:C4014742 Orphanet:83473 OMIM:615938" http://identifiers.org/hgnc/25676 MONDO:0012884 "OMIM:612378" -MONDO:0002028 "A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work." "SCTID:33449004 ICD9:301.9 HP:0012075 ICD9:301.8 NCIT:C34922 DOID:1510 ICD9:301.89" +MONDO:0002028 "A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work." "SCTID:33449004 ICD9:301.9 HP:0012075 ICD9:301.8 NCIT:C34922 ICD10CM:F60-F69 ICD10CM:F20-F29 DOID:1510 ICD9:301.89" MONDO:0009808 "A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare." "HP:0030433 UMLS:C0029441 ICDO:9191/0 NCIT:C3297 SCTID:302859004 OMIM:259550 MESH:D010017" GO:0009123 "The chemical reactions and pathways involving a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar." MONDO:0010981 "Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." "OMIM:601027 SCTID:733068001 MESH:C563403 GARD:0005210 Orphanet:3328" -MONDO:0005764 "A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases." "Orphanet:86902 NCIT:C9281 ONCOTREE:FDCS MESH:D054740 ICDO:9758/1 EFO:0007276 ICDO:9758/3 ICD10:C96.4 DOID:6262 UMLS:C1260325" -MONDO:0001849 "DOID:1397 ICD9:376.10 SCTID:44729001 UMLS:C0155261 ICD9:376.1 ICD10:H05.1" -MONDO:0004001 "Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space." "ICD9:958.90 UMLS:C0009492 ICD9:958.8 MESH:D003161 DOID:682 GARD:0006141 SCTID:111245009 NCIT:C118422 ICD10:T79.A0" +MONDO:0005764 "A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases." "Orphanet:86902 NCIT:C9281 ONCOTREE:FDCS ICD10CM:C96.4 MESH:D054740 ICDO:9758/1 EFO:0007276 ICDO:9758/3 DOID:6262 UMLS:C1260325" +MONDO:0001849 "DOID:1397 ICD9:376.10 SCTID:44729001 UMLS:C0155261 ICD9:376.1" +MONDO:0004001 "Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space." "ICD9:958.90 UMLS:C0009492 ICD9:958.8 DOID:682 MESH:D003161 GARD:0006141 SCTID:111245009 NCIT:C118422" FOODON:00001015 "This class includes food products which are derived from or produced by a plant."@en MONDO:0002418 "A carcinoma that arises from glandular epithelial cells of the epithelial cell" "NCIT:C6237 UMLS:C1333472 DOID:2766" HP:0007378 "A tumor (abnormal growth of tissue) of the gastrointestinal tract." "UMLS:C0017185 SNOMEDCT_US:126768004 NCIT:C3262 MSH:D005770" @@ -15753,22 +15746,22 @@ GO:0010564 "Any process that modulates a cellular process that is involved in th CL:1000320 "A goblet cell that is part of the epithelium of large intestine." "FMA:263054" MONDO:0018825 "PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders." "Orphanet:481152" GO:0043235 "Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function." -MONDO:0014182 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene." "ICD10:H90.3 DOID:0110533 UMLS:C2829267 OMIM:615429" +MONDO:0014182 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene." "DOID:0110533 UMLS:C2829267 OMIM:615429" MONDO:0013597 "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene." "MESH:C562866 UMLS:C0398635 SCTID:234477002 DOID:0111047 OMIM:614158" MONDO:0024488 "A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread" MONDO:0042962 "UMLS:C2931284 GARD:0000324 MEDGEN:419036 MESH:C536673" -MONDO:0010993 "Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive." "OMIM:601095 GARD:0002601 UMLS:C0795970 MESH:C535635 Orphanet:2115 SCTID:716089008 ICD10:Q87.8" +MONDO:0010993 "Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive." "ICD10CM:Q87.8 OMIM:601095 GARD:0002601 UMLS:C0795970 MESH:C535635 Orphanet:2115 SCTID:716089008" CHEBI:25701 "An oxide in which the oxygen atom is bonded to a carbon atom." -MONDO:0013479 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene." "Orphanet:154 DOID:0110448 ICD10:I42.0 UMLS:C3151293 OMIM:613881" +MONDO:0013479 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene." "Orphanet:154 DOID:0110448 ICD10CM:I42.0 UMLS:C3151293 OMIM:613881" MONDO:0021081 "An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor." "NCIT:C94853 MESH:D060426" MONDO:0007940 "OMIM:154276 Orphanet:423 MESH:C535696 GARD:0003365" MONDO:0003146 HP:0000741 "UMLS:C0085632 SNOMEDCT_US:20602000 MSH:D057565" MONDO:0014183 "Orphanet:98619 UMLS:C3809482 OMIM:615431" MONDO:0002297 "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands." "NCIT:C4463 ICD9:239.2 UMLS:C0345988 SCTID:126489007 DOID:2433" -MONDO:0008698 "A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food." "UMLS:C0014848 DOID:9164 UMLS:C1321756 Orphanet:930 ICD9:530.0 UMLS:C1860213 SCTID:235630008 NCIT:C84699 ICD10:K22.0 HP:0002571 OMIM:200400" -MONDO:0016296 "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." "OMIM:612530 OMIM:610828 OMIM:609408 ICD10:Q04.2 UMLS:C0079541 OMIMPS:236100 OMIM:157170 OMIM:147250 GARD:0006665 OMIM:609637 SCTID:30915001 OMIM:142946 MESH:D016142 NCIT:C74988 OMIM:605934 OMIM:610829 OMIM:236100 OMIM:614226 DOID:4621 Orphanet:2162 MedDRA:10056304 OMIM:142945" -MONDO:0009126 "Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." "NCIT:C101025 GARD:0000054 UMLS:C0266174 Orphanet:1203 HP:0002247 MESH:C535720 SCTID:51118003 ICD10:Q41.0 OMIM:223400 DOID:0080216 ICD9:751.1 MedDRA:10013812" +MONDO:0008698 "A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food." "UMLS:C0014848 DOID:9164 UMLS:C1321756 Orphanet:930 ICD9:530.0 UMLS:C1860213 SCTID:235630008 NCIT:C84699 HP:0002571 OMIM:200400" +MONDO:0016296 "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." "OMIM:612530 OMIM:610828 OMIM:609408 UMLS:C0079541 OMIMPS:236100 OMIM:157170 OMIM:147250 GARD:0006665 OMIM:609637 SCTID:30915001 OMIM:142946 MESH:D016142 NCIT:C74988 OMIM:605934 OMIM:610829 OMIM:236100 OMIM:614226 DOID:4621 Orphanet:2162 MedDRA:10056304 ICD10CM:Q04.2 OMIM:142945" +MONDO:0009126 "Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen." "NCIT:C101025 GARD:0000054 UMLS:C0266174 Orphanet:1203 HP:0002247 MESH:C535720 SCTID:51118003 ICD10CM:Q41.0 OMIM:223400 DOID:0080216 ICD9:751.1 MedDRA:10013812" UBERON:0006925 MONDO:0003587 "A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma." "NCIT:C8091 UMLS:C0279984 DOID:5695" MONDO:0010223 "UMLS:C1848387 OMIM:300001 Orphanet:461 MESH:C564729" @@ -15776,7 +15769,7 @@ MONDO:0042961 "GARD:0000317 UMLS:C2931443 MESH:C537222" MONDO:0002872 "A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma." "DOID:4085 MESH:D014328 UMLS:C0041182 NCIT:C3422" MONDO:0004451 "A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells." "UMLS:C1519184 DOID:8072 NCIT:C41620" GO:0048565 "The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed." -MONDO:0015565 "Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea." "UMLS:C4303971 ICD10:D12.6 Orphanet:160148 SCTID:720604008" +MONDO:0015565 "Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea." "UMLS:C4303971 Orphanet:160148 ICD10CM:D12.6 SCTID:720604008" MONDO:0012620 "OMIM:611100 MESH:C567011 UMLS:C1970192" MONDO:0001852 "A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine." "ICD9:202.80 SCTID:449074003 UMLS:C0278805 NCIT:C4007 DOID:13996" MONDO:0005890 "A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism." "DOID:3341 MESH:D010002 NCIT:C34875 UMLS:C0029405 EFO:0007413 SCTID:84727000" @@ -15792,7 +15785,7 @@ UBERON:0005728 http://identifiers.org/hgnc/25415 MONDO:0010226 "UMLS:C1848296 MESH:C535601 Orphanet:251510 DOID:0111777 OMIM:300018 Orphanet:242" GO:0031337 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids." -MONDO:0000193 "A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility." "UMLS:CN200166 ICD10:E25.8 OMIM:604931 ICD9:277.6 GARD:0009882 DOID:0090139 MESH:C536447 Orphanet:168588 OMIM:614662 OMIMPS:604931 SCTID:124138004" +MONDO:0000193 "A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility." "UMLS:CN200166 OMIM:604931 ICD9:277.6 ICD10CM:E25.8 GARD:0009882 DOID:0090139 MESH:C536447 Orphanet:168588 OMIM:614662 OMIMPS:604931 SCTID:124138004" MONDO:0012497 "A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21." "OMIM:610444 UMLS:C1864870 DOID:0110715 MESH:C566475" MONDO:0033211 "OMIMPS:251280" HP:0025031 @@ -15801,56 +15794,56 @@ MONDO:0003378 "An aggressive malignant smooth muscle neoplasm, arising from the MONDO:0022986 "A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor." "UMLS:C1333291 NCIT:C7437 GARD:0010780" MONDO:0012448 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene." "OMIM:610244 DOID:0110784 UMLS:C1853251 MESH:C565214" NCBITaxon:1485168 "GC_ID:1" -MONDO:0008411 "Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described." "Orphanet:3138 UMLS:C1866994 DOID:0060614 ICD9:759.89 OMIM:181450 MESH:C536937 GARD:0000118 ICD10:Q71.8 SCTID:700211007" +MONDO:0008411 "Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described." "Orphanet:3138 UMLS:C1866994 ICD10CM:Q71.8 DOID:0060614 ICD9:759.89 OMIM:181450 MESH:C536937 GARD:0000118 SCTID:700211007" UBERON:0008229 UBERON:0005729 -MONDO:0017784 "Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis." "ICD10:C16.2 ICD10:C16.0 UMLS:CN203734 SCTID:716586009 Orphanet:313920" +MONDO:0017784 "Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis." "ICD10CM:C16.2 UMLS:CN203734 SCTID:716586009 Orphanet:313920 ICD10CM:C16.0" HP:0033353 "Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein)." -MONDO:0006346 "An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." "NCIT:C7977 ICD10:C25.0 ICD10:C25.2 Orphanet:424046 UMLS:C0279661 DOID:5742 ONCOTREE:PAAC ICD10:C25.1 EFO:1000439 ICD10:C25.7 ICD10:C25.8" +MONDO:0006346 "An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis." "NCIT:C7977 Orphanet:424046 UMLS:C0279661 DOID:5742 ONCOTREE:PAAC EFO:1000439" http://identifiers.org/hgnc/11071 -MONDO:0019563 "CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia." "ICD10:M34.1 SCTID:31848007 NCIT:C70646 UMLS:C0206138 OMIM:181750 GARD:0012430 DOID:0060218 MESH:D017675 MedDRA:10011380 Orphanet:90290" +MONDO:0019563 "CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia." "SCTID:31848007 NCIT:C70646 UMLS:C0206138 OMIM:181750 GARD:0012430 DOID:0060218 MESH:D017675 MedDRA:10011380 Orphanet:90290" MONDO:8000015 "Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene." "OMIM:273250 MESH:C537770" MONDO:0005540 http://identifiers.org/hgnc/24212 MONDO:0030700 "An autoimmune form of glomerulonephritis (disease)." "DOID:0040094" MONDO:0021408 "A polyp that involves the frontal sinus." "NCIT:C4367 UMLS:C0339814 ICD9:471.8 SCTID:195759002" http://identifiers.org/hgnc/26877 -MONDO:0005364 "Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery." "SCTID:267374005 OMIM:275000 OMIM:300351 GARD:0006549 EFO:0004237 DOID:10719 ICD9:242.0 ICD10:E05.0 NCIT:C3071 DOID:12361 MESH:D006111 OMIM:603388 SCTID:353295004" -MONDO:0008823 "Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy." "MESH:C536614 ICD10:Q74.3 SCTID:715316005 DOID:0090124 Orphanet:1143 GARD:0000790 UMLS:C1859721 OMIM:208100" +MONDO:0005364 "Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery." "SCTID:267374005 OMIM:275000 OMIM:300351 GARD:0006549 EFO:0004237 DOID:10719 ICD9:242.0 NCIT:C3071 DOID:12361 MESH:D006111 OMIM:603388 SCTID:353295004" +MONDO:0008823 "Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy." "OMIM:617468 MESH:C536614 SCTID:715316005 DOID:0090124 Orphanet:1143 GARD:0000790 UMLS:C1859721 ICD10CM:Q74.3 OMIM:208100" MONDO:0013728 "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene." "OMIM:614390" -MONDO:0015438 "Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family." "UMLS:CN036599 Orphanet:1446 GARD:0001336 SCTID:13555004 ICD10:Q93.2 MESH:C536795" +MONDO:0015438 "Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family." "UMLS:CN036599 Orphanet:1446 ICD10CM:Q93.2 GARD:0001336 SCTID:13555004 MESH:C536795" MONDO:0011427 "OMIM:604291" HP:0000819 "A group of abnormalities characterized by hyperglycemia and glucose intolerance." "MSH:D003920 UMLS:C0011849 SNOMEDCT_US:73211009" MONDO:0006894 "A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome." "DOID:14284 EFO:1001092 UMLS:C0877149 MESH:D046788 SCTID:430725003 MedDRA:10049143" MONDO:0012623 "UMLS:C1970179 MESH:C567008 OMIM:611107" MONDO:0013398 "Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene." "UMLS:C3151038 OMIM:613737" -MONDO:0015790 "Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI)." "OMIM:125700 OMIM:304900 HP:0000863 Orphanet:178029 GARD:0006015 ICD10:E23.2 MedDRA:10068587" +MONDO:0015790 "Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI)." "OMIM:125700 OMIM:304900 HP:0000863 Orphanet:178029 GARD:0006015 ICD10CM:E23.2 MedDRA:10068587" MONDO:0012889 "OMIM:612388 Orphanet:797" MONDO:0003997 "A Kaposi sarcoma arising from the colon." "UMLS:C1333091 DOID:6804 NCIT:C5516" MONDO:0004342 -MONDO:0019017 "Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant." "ICD10:E13 UMLS:CN205478 Orphanet:66518" +MONDO:0019017 "Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant." "UMLS:CN205478 Orphanet:66518 ICD10CM:E13" SO:0000651 "Cytosolic LSU rRNA is an RNA component of the large subunit of cytosolic ribosomes." -MONDO:0009720 "A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis." "OMIM:255980 Orphanet:2662 ICD10:Q87.0 UMLS:C1850627 GARD:0000267 MESH:C538337 OMIM:301026 SCTID:763774001" -MONDO:0008101 "Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported." "OMIM:163700 ICD10:Q83.3 Orphanet:2456" -MONDO:0013797 "17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported." "Orphanet:261265 ICD10:Q93.5 UMLS:C4518822 GARD:0013297 OMIM:614527 DOID:0060404 SCTID:733519008 UMLS:C3281138" -MONDO:0008267 "Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum)." "DOID:0060375 OMIM:174300 GARD:0004120 ICD10:Q87.0 MESH:C557819 Orphanet:2919 UMLS:C1868118 SCTID:722105002" -MONDO:0014103 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene." "UMLS:C3808975 DOID:0090076 OMIM:615267 ICD10:E23.0 Orphanet:478" +MONDO:0009720 "A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis." "OMIM:255980 ICD10CM:Q87.0 Orphanet:2662 UMLS:C1850627 GARD:0000267 MESH:C538337 OMIM:301026 SCTID:763774001" +MONDO:0008101 "Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported." "OMIM:163700 Orphanet:2456 ICD10CM:Q83.3" +MONDO:0013797 "17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported." "Orphanet:261265 UMLS:C4518822 GARD:0013297 OMIM:614527 DOID:0060404 SCTID:733519008 ICD10CM:Q93.5 UMLS:C3281138" +MONDO:0008267 "Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum)." "DOID:0060375 OMIM:174300 GARD:0004120 ICD10CM:Q87.0 MESH:C557819 Orphanet:2919 UMLS:C1868118 SCTID:722105002" +MONDO:0014103 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene." "UMLS:C3808975 DOID:0090076 OMIM:615267 Orphanet:478" MONDO:0033479 "OMIM:617691 DOID:0080286 UMLS:CN492437" MONDO:0010228 "MESH:C564727 DOID:0111736 OMIM:300030 GARD:0001707 Orphanet:90625" MONDO:0000671 "An agnosia characterized by an inabilty to distinguish, name, or recognize the fingers" "HP:0010525 DOID:0060141" CL:0008024 "An endocrine cell that is part of the pancreas." -MONDO:0014530 "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected." "OMIM:616204 Orphanet:363432 Orphanet:363429 DOID:0080042 ICD10:G11.1 UMLS:C4015505" +MONDO:0014530 "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected." "OMIM:616204 Orphanet:363432 Orphanet:363429 DOID:0080042 UMLS:C4015505 ICD10CM:G11.1" CHEBI:35627 "A lactam in which the amide bond is contained within a four-membered ring, which includes the amide nitrogen and the carbonyl carbon." -MONDO:0009061 "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." "ICD10:E84.9 ICD10:E84.1 ICD10:E84.8 ICD10:E84.0 OMIM:219700 MESH:D003550 Orphanet:586 MedDRA:10011762 ICD10:E84 DOID:1485 UMLS:C0010674 GARD:0006233 SCTID:190905008 ICD9:277.0 NCIT:C2975" +MONDO:0009061 "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." "ICD10CM:E84.9 ICD10CM:E84.1 OMIM:219700 MESH:D003550 Orphanet:586 ICD10CM:E84 MedDRA:10011762 DOID:1485 UMLS:C0010674 GARD:0006233 SCTID:190905008 ICD9:277.0 NCIT:C2975 ICD10CM:E84.0 ICD10CM:E84.8" MONDO:0002523 "The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses)." "UMLS:C0162855 ICD9:701.8 DOID:3141 MESH:D017520 SCTID:402721001" MONDO:0003079 "A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung." "NCIT:C9303 SCTID:404171008 ICD9:238.5 ICDO:9740/1 UMLS:C0024897" http://identifiers.org/hgnc/23015 MONDO:0009165 "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene." "Orphanet:51 UMLS:C0796126 OMIM:225750 GARD:0010893" MONDO:0012540 "Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene." "UMLS:C1853147 DOID:0110017 MESH:C565196 OMIM:610698" -MONDO:0010802 "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis)." "OMIM:600001 DOID:0111733 GARD:0000347 MESH:C564011 ICD10:Q87.8 Orphanet:2255 SCTID:722206009" +MONDO:0010802 "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis)." "OMIM:600001 DOID:0111733 GARD:0000347 ICD10CM:Q87.8 MESH:C564011 Orphanet:2255 SCTID:722206009" MONDO:0002453 "Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss." "MESH:D012181 DOID:2889 UMLS:C0035352" -MONDO:0010965 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene." "UMLS:C1832992 OMIM:600971 ICD10:H90.3 MESH:C563418 DOID:0110512" -MONDO:0008296 "An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome." "OMIM:176100 Orphanet:443062 Orphanet:101330 SCTID:59229005 ICD10:E80.1 UMLS:C0162569 UMLS:C0268323 Orphanet:95159" +MONDO:0010965 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene." "UMLS:C1832992 OMIM:600971 MESH:C563418 DOID:0110512" +MONDO:0008296 "An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome." "ICD10CM:E80.1 OMIM:176100 Orphanet:443062 Orphanet:101330 SCTID:59229005 UMLS:C0162569 UMLS:C0268323 Orphanet:95159" ECTO:9001757 "An exposure to antibacterial drug." GO:0120038 "OBSOLETE. Any constituent part of a plasma membrane bounded cell projection, a prolongation or process extending from a cell, e.g. a cilium or axon." UBERON:0007285 @@ -15860,8 +15853,8 @@ MONDO:0005740 "Infectious disease processes, including meningitis, diarrhea, and MONDO:0003340 "A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course." "ICDO:8711/3 ONCOTREE:MGST DOID:5233 UMLS:C1266111 NCIT:C4221 ICDO:8710/3" MONDO:0007933 "Orphanet:99000 MESH:C537832 OMIM:153840 GARD:0010120" PATO:0001997 "An amount which is relatively low." -MONDO:0016457 "Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." "Orphanet:228396 ICD10:Q87.0 UMLS:CN201421" -MONDO:0019533 "Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures." "ICD10:D59.6 SCTID:127057004 GARD:0007335 Orphanet:90035" +MONDO:0016457 "Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." "Orphanet:228396 ICD10CM:Q87.0 UMLS:CN201421" +MONDO:0019533 "Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures." "SCTID:127057004 GARD:0007335 Orphanet:90035 ICD10CM:D59.6" GO:0098869 "Any process carried out at the cellular level that reduces or removes the toxicity superoxide radicals or hydrogen peroxide." MONDO:0009816 "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene." "DOID:0110943 OMIM:259710 MESH:C536059 Orphanet:667 GARD:0004157" http://identifiers.org/hgnc/3951 @@ -15869,11 +15862,11 @@ MONDO:0010480 "OMIM:300908 UMLS:C2720289 MESH:C567533 Orphanet:466026" UBERON:0006920 MONDO:0008032 GO:0006820 "The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." -MONDO:0004950 "A carcinoma that arises from epithelial cells of the stomach." "EFO:0000178 ICD10:C16.1 ICD9:230.2 DOID:10538 NCIT:C4911 ICD9:151.3 UMLS:C0153420 SCTID:187741001 DOID:5517 OMIM:613659 UMLS:C0699791" +MONDO:0004950 "A carcinoma that arises from epithelial cells of the stomach." "EFO:0000178 ICD9:230.2 DOID:10538 NCIT:C4911 ICD9:151.3 UMLS:C0153420 SCTID:187741001 DOID:5517 OMIM:613659 UMLS:C0699791" UBERON:0003329 GO:0051926 "Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." GO:0009251 "The chemical reactions and pathways resulting in the breakdown of glucans, polysaccharides consisting only of glucose residues." -MONDO:0018211 "Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time." "ICD10:H51.8 Orphanet:363746 SCTID:765212008 UMLS:C0270706" +MONDO:0018211 "Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time." "Orphanet:363746 SCTID:765212008 ICD10CM:H51.8 UMLS:C0270706" http://identifiers.org/hgnc/7646 MONDO:0021475 "A benign neoplasm that involves the nasal cavity." "UMLS:C0347215 ICD9:212.0 SCTID:92241005 NCIT:C4603" UBERON:0009680 @@ -15882,7 +15875,7 @@ NCBITaxon:33347 "GC_ID:1" UBERON:0007284 MONDO:0001188 "An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue." "DOID:1106 UMLS:C1333459 NCIT:C5687" GO:1903506 "Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription." -MONDO:0016567 "Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking." "SCTID:38023001 ICD10:G83.8 MedDRA:10024792 ICD9:344.81 GARD:0006919 ICD10:G83.5 Orphanet:2406 DOID:12697" +MONDO:0016567 "Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking." "SCTID:38023001 MedDRA:10024792 ICD10CM:G83.8 ICD9:344.81 GARD:0006919 Orphanet:2406 DOID:12697" MONDO:0009494 UBERON:0005724 UBERON:0003327 @@ -15901,13 +15894,13 @@ GO:0032368 "Any process that modulates the frequency, rate or extent of the dire MONDO:8000014 "Autosomal dominant form of antiphospholipid syndrome." "OMIM:107320 UMLS:C2930802 GARD:0005824 MESH:C531622" GO:0050308 "Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate." ENVO:09000018 "The concentration of a nitrogen atom when measured in water." -MONDO:0011885 "An autoimmune disorder comprising tubulointerstitial nephritis and uveitis." "ICD10:N10 UMLS:C1843273 MedDRA:10069039 NCIT:C123021 Orphanet:91500 OMIM:607665 MedDRA:10069034 GARD:0009252" +MONDO:0011885 "An autoimmune disorder comprising tubulointerstitial nephritis and uveitis." "UMLS:C1843273 MedDRA:10069039 ICD10CM:N10 NCIT:C123021 Orphanet:91500 OMIM:607665 MedDRA:10069034 GARD:0009252" UBERON:0005725 -MONDO:0001123 "Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." "NCIT:C34480 ICD10:J32.3 DOID:10793 SCTID:38961000 ICD9:473.3 UMLS:C0008712" +MONDO:0001123 "Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." "NCIT:C34480 DOID:10793 SCTID:38961000 ICD9:473.3 ICD10CM:J32.3 UMLS:C0008712" MONDO:0008034 "MESH:C563554 UMLS:C1834652 Orphanet:98895 OMIM:159050" UBERON:0004528 http://identifiers.org/hgnc/6447 -MONDO:0009247 "Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." "ICD10:Q75.8 SCTID:716022002 Orphanet:1791 UMLS:C2931720 OMIM:229400 MESH:C538063 GARD:0002390" +MONDO:0009247 "Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." "SCTID:716022002 Orphanet:1791 UMLS:C2931720 ICD10CM:Q75.8 OMIM:229400 MESH:C538063 GARD:0002390" MONDO:0004551 "Inflammation of a congenital diverticulum of the lower intestine." "NCIT:C27300 SCTID:48241004 DOID:8408 UMLS:C0267497" MONDO:0100102 "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene." "OMIM:618388 DOID:0111378" MONDO:0030979 "OMIM:619218" @@ -15916,7 +15909,7 @@ UBERON:0004527 NCBITaxon:4447 "PMID:25249442 GC_ID:1" http://identifiers.org/hgnc/17168 GO:0072365 "OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter." -MONDO:0002970 "A disease involving the ciliary body." "NCIT:C35775 UMLS:C0271100 SCTID:68575007 DOID:4353" +MONDO:0002970 "A disease involving the ciliary body." "NCIT:C35775 UMLS:C0271100 SCTID:68575007 DOID:4353 ICD10CM:H15-H22" MONDO:0000631 "A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites." "SCTID:92027006 DOID:0060094 NCIT:C4880 ICD9:213.9" http://identifiers.org/hgnc/12009 http://identifiers.org/hgnc/4053 @@ -15925,7 +15918,7 @@ NCBITaxon:33349 "GC_ID:1" UBERON:0005726 http://identifiers.org/hgnc/22923 MONDO:0008035 "OMIM:159100 MESH:C563553 UMLS:C1834651" -MONDO:0019209 "A disease due to a virus transmitted by an arthropod)." "MESH:D004672 UMLS:C0014057 EFO:0007332 NCIT:C34577 SCTID:52947006 DOID:10844 Orphanet:79139 ICD9:062.0 ICD10:A83.0 MedDRA:10014596 GARD:0006797" +MONDO:0019209 "A disease due to a virus transmitted by an arthropod)." "MESH:D004672 UMLS:C0014057 EFO:0007332 NCIT:C34577 SCTID:52947006 DOID:10844 Orphanet:79139 ICD9:062.0 MedDRA:10014596 GARD:0006797" UBERON:0004529 MONDO:0007936 "OMIM:153890 UMLS:C1835173 MESH:C563607" MONDO:0006174 "An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension." "UMLS:C1707525 NCIT:C48449 EFO:1000208" @@ -15935,24 +15928,24 @@ MONDO:0006061 "A tear within the wall of any of the arteries of the neck (caroti http://identifiers.org/hgnc/5248 UBERON:0007282 UBERON:0005985 -MONDO:0015354 "This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay." "Orphanet:139573 ICD10:G60.8 UMLS:CN226662 SCTID:717826009 UMLS:C4303566" +MONDO:0015354 "This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay." "Orphanet:139573 UMLS:CN226662 SCTID:717826009 ICD10CM:G60.8 UMLS:C4303566" MONDO:0100157 "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF)." "OMIM:618882" UBERON:0003324 http://identifiers.org/hgnc/8840 MONDO:0001883 "A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation." "UMLS:C0242645 DOID:14121 MESH:D018438" -MONDO:0012023 "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23." "ICD10:H90.3 MESH:C564250 OMIM:608372 DOID:0110572 UMLS:C1842136" +MONDO:0012023 "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23." "MESH:C564250 OMIM:608372 DOID:0110572 UMLS:C1842136" UBERON:0007289 MONDO:0006752 "A disease caused by infection with Erysipelothrix rhusiopathiae." "EFO:1000928 MESH:D004887" -MONDO:0011976 "Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." "OMIM:608154 ICD10:Q78.8 MESH:C564283 Orphanet:50811 SCTID:721973006" -MONDO:0017852 "A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990." "ICD10:G40.4 UMLS:CN203849 GARD:0003002 Orphanet:3173" +MONDO:0011976 "Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested." "OMIM:608154 ICD10CM:Q78.8 MESH:C564283 Orphanet:50811 SCTID:721973006" +MONDO:0017852 "A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990." "UMLS:CN203849 GARD:0003002 ICD10CM:G40.4 Orphanet:3173" GO:0004029 "Catalysis of the reaction: an aldehyde + NAD+ + H2O = an acid + NADH + H+." MONDO:0004203 "A cancer that involves the female urethra." "DOID:738 NCIT:C39866 UMLS:C1517154" -MONDO:0017201 "Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis." "MedDRA:10059593 Orphanet:279882 HP:0010533 SCTID:400948003 ICD10:F98.4 UMLS:C1527306" +MONDO:0017201 "Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis." "MedDRA:10059593 Orphanet:279882 HP:0010533 SCTID:400948003 ICD10CM:F98.4 UMLS:C1527306" ENVO:03000033 "Sediment which has been transported through the marine water column, settling on the seafloor." http://identifiers.org/hgnc/18368 -MONDO:0011994 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene." "MESH:C564272 ICD10:H90.3 UMLS:C1842371 OMIM:608224 DOID:0110567" +MONDO:0011994 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene." "MESH:C564272 UMLS:C1842371 OMIM:608224 DOID:0110567" CL:0002001 "A granulocyte monocyte progenitor is CD34-positive, CD38-positive, IL-3receptor-alpha-positive and is CD45RA-negative." -MONDO:0006932 "Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure)." "MedDRA:10037375 DOID:11396 SCTID:19242006 ICD10:J81 MESH:D011654 UMLS:C0034063 EFO:1001134 ICD10:J81.1 NCIT:C26868" +MONDO:0006932 "Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure)." "MedDRA:10037375 ICD10CM:J81 DOID:11396 SCTID:19242006 MESH:D011654 UMLS:C0034063 EFO:1001134 NCIT:C26868" UBERON:0004787 UBERON:0006924 UBERON:0004521 @@ -15963,39 +15956,39 @@ http://identifiers.org/hgnc/20788 MONDO:0002414 "A hemangioma arising from the stomach." "UMLS:C1333770 NCIT:C5481 DOID:275" MONDO:0007096 "MESH:C537072 OMIM:104600 UMLS:C0271556 SCTID:64678009 ICD9:253.1" MONDO:0000488 "A adenoma that involves the periampullary region of duodenum." "UMLS:CN068444 DOID:0050849" -MONDO:0017600 "Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C)." "NCIT:C7401 UMLS:C0349633 SCTID:277568007 DOID:713 MedDRA:10019054 Orphanet:300878 ICDO:9591/3 ICD10:C91.4" +MONDO:0017600 "Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C)." "ICD10CM:C91.4 NCIT:C7401 UMLS:C0349633 SCTID:277568007 DOID:713 MedDRA:10019054 Orphanet:300878 ICDO:9591/3" HP:0001367 "An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join." "UMLS:C0240083 MSH:D007592 UMLS:C0022408 SNOMEDCT_US:399269003" MONDO:0023076 "Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition." "ICD9:704.8 GARD:0008534 MESH:C535953 SCTID:95333004 UMLS:C0406305" http://identifiers.org/hgnc/6444 UBERON:0005720 -MONDO:0017405 "1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder." "UMLS:C4304578 ICD10:Q93.5 UMLS:CN203152 SCTID:719600006 Orphanet:293948" +MONDO:0017405 "1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder." "UMLS:C4304578 ICD10CM:Q93.5 UMLS:CN203152 SCTID:719600006 Orphanet:293948" UBERON:0003323 MONDO:0003206 "A hemangioma that is not present at birth but develops later in life." "UMLS:C0856897 NCIT:C27018 DOID:492" NCBITaxon:33343 "GC_ID:1" UBERON:0003589 UBERON:0007288 -MONDO:0018207 "2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy." "UMLS:CN204723 Orphanet:363680 ICD10:Q93.5" -MONDO:0002688 "Blockage of the normal flow of stomach contents through the duodenum." "DOID:3558 NCIT:C79548 ICD10:K31.5 UMLS:C0013292 MESH:D004380 SCTID:95532008 EFO:1000908" -MONDO:0019100 "Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis." "EFO:0004256 DOID:8869 MESH:D009471 Orphanet:71211 UMLS:C0027873 SCTID:25044007 ICD10:G36.0 NCIT:C84934 ICD9:341.0 MedDRA:10029322 GARD:0006267" +MONDO:0018207 "2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy." "UMLS:CN204723 ICD10CM:Q93.5 Orphanet:363680" +MONDO:0002688 "Blockage of the normal flow of stomach contents through the duodenum." "DOID:3558 NCIT:C79548 MESH:D004380 UMLS:C0013292 SCTID:95532008 EFO:1000908" +MONDO:0019100 "Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis." "EFO:0004256 DOID:8869 MESH:D009471 Orphanet:71211 UMLS:C0027873 SCTID:25044007 NCIT:C84934 ICD9:341.0 MedDRA:10029322 GARD:0006267" UBERON:0004522 -MONDO:0002473 "A congenital or acquired kidney disorder characterized by the presence of renal cysts." "NCIT:C34750 SCTID:722223000 UMLS:C0022679 MESH:D052177 ICD10:Q61 DOID:2975" +MONDO:0002473 "A congenital or acquired kidney disorder characterized by the presence of renal cysts." "NCIT:C34750 SCTID:722223000 UMLS:C0022679 MESH:D052177 ICD10CM:Q61 DOID:2975" UBERON:0006923 http://identifiers.org/hgnc/7643 MONDO:0030978 "OMIM:619217" -MONDO:0011079 "Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia." "OMIM:601438 Orphanet:2831 SCTID:715505002 ICD10:Q78.8 MESH:C537609 GARD:0004703 UMLS:C1832359" +MONDO:0011079 "Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia." "OMIM:601438 Orphanet:2831 SCTID:715505002 ICD10CM:Q78.8 MESH:C537609 GARD:0004703 UMLS:C1832359" UBERON:0002125 GO:0009411 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers." UBERON:0004788 MONDO:0045054 "A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome)." "NCIT:C8278 UMLS:C0280950" -MONDO:0007097 "MESH:C537459 ICD10:E85.1 SCTID:419398009 ICD9:277.39 GARD:0002339 DOID:0050637 Orphanet:85448 OMIM:105120" +MONDO:0007097 "MESH:C537459 ICD10CM:E85.1 SCTID:419398009 ICD9:277.39 GARD:0002339 DOID:0050637 Orphanet:85448 OMIM:105120" GO:0007274 "The process of synaptic transmission from a neuron to a muscle, across a synapse." -MONDO:0002105 "An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis." "UMLS:C0025162 ICD10:K59.31 SCTID:28536002 ICD9:564.7 MESH:D008532 ICD10:K59.3 DOID:1770" +MONDO:0002105 "An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis." "UMLS:C0025162 SCTID:28536002 ICD10CM:K59.31 ICD9:564.7 MESH:D008532 DOID:1770" MONDO:0015218 "OBSOLETE. A developmental defect of the eye that is part of a larger syndrome." "Orphanet:108987 UMLS:CN226635" -MONDO:0015486 "A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances." "DOID:10126 OMIM:609271 HP:0000563 OMIMPS:148300 OMIM:614629 MedDRA:10023353 NCIT:C26806 ICD10:H18.6 GARD:0006824 Orphanet:156071 SCTID:65636009 OMIM:614623 ICD9:371.6 MESH:D007640 Orphanet:2335 ICD10:H18.60 OMIM:614628 OMIM:608586 ICD9:371.60 OMIM:148300 UMLS:C0022578 OMIM:608932 OMIM:614622" +MONDO:0015486 "A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances." "DOID:10126 OMIM:609271 HP:0000563 OMIMPS:148300 OMIM:614629 MedDRA:10023353 NCIT:C26806 GARD:0006824 Orphanet:156071 SCTID:65636009 OMIM:614623 ICD9:371.6 MESH:D007640 Orphanet:2335 OMIM:614628 OMIM:608586 ICD9:371.60 OMIM:148300 UMLS:C0022578 OMIM:608932 OMIM:614622" http://identifiers.org/hgnc/14409 http://identifiers.org/hgnc/5246 NCBITaxon:6843 "GC_ID:1" -MONDO:0008292 "Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections (\"spiny keratosis\") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed." "SCTID:765096001 GARD:0004439 OMIM:175860 ICD10:Q82.8 Orphanet:79502 UMLS:C1867982 DOID:0080213" +MONDO:0008292 "Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections (\"spiny keratosis\") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed." "SCTID:765096001 GARD:0004439 OMIM:175860 Orphanet:79502 UMLS:C1867982 DOID:0080213 ICD10CM:Q82.8" ECTO:9000171 "An exposure to acetate." UBERON:0005721 UBERON:0007021 @@ -16003,8 +15996,8 @@ http://identifiers.org/hgnc/6443 UBERON:0003326 http://identifiers.org/hgnc/4056 http://identifiers.org/hgnc/16808 -MONDO:0016722 "Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis." "DOID:1664 ONCOTREE:PBL Orphanet:251909 EFO:1000475 MedDRA:10050487 ICDO:9362/3 NCIT:C9344 GARD:0009369 ICD10:C75.3 UMLS:C0205898" -MONDO:0009231 "ICD10:Q73.8 SCTID:715474004 OMIM:228900 Orphanet:2639 KEGG:H00467 DOID:0050790 GARD:0009879 UMLS:C1856738 OMIM:609441 MESH:C537931" +MONDO:0016722 "Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis." "DOID:1664 ONCOTREE:PBL Orphanet:251909 EFO:1000475 MedDRA:10050487 ICDO:9362/3 NCIT:C9344 GARD:0009369 ICD10CM:C75.3 UMLS:C0205898" +MONDO:0009231 "SCTID:715474004 OMIM:228900 Orphanet:2639 KEGG:H00467 DOID:0050790 UMLS:C1856738 GARD:0009879 ICD10CM:Q73.8 OMIM:609441 MESH:C537931" GO:1905082 "Any process that modulates the frequency, rate or extent of mitochondrial translational elongation." MONDO:0011684 "OMIM:606579 UMLS:C1847835" NCBITaxon:10357 "GC_ID:1" @@ -16026,11 +16019,11 @@ MONDO:0043343 "Interposition of a portion of the colon (e.g., sigmoid colon) bet http://identifiers.org/hgnc/6442 GO:0051347 "Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor." MONDO:0008399 "Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene." "OMIM:181000 Orphanet:797 ICD9:135" -MONDO:0009230 "Orphanet:49041 ICD9:710.8 OMIM:228800 GARD:0005697 SCTID:111210001 ICD10:M35.5 MESH:C537375" +MONDO:0009230 "Orphanet:49041 ICD9:710.8 OMIM:228800 GARD:0005697 SCTID:111210001 ICD10CM:M35.5 MESH:C537375" http://identifiers.org/hgnc/4057 UBERON:0003325 NCBITaxon:33345 "GC_ID:1" -MONDO:0007099 "GARD:0008282 DOID:0050636 ICD10:E85.0 ICD9:277.39 UMLS:C0268389 Orphanet:85450 MESH:C538249 OMIM:105200 SCTID:66451004" +MONDO:0007099 "GARD:0008282 ICD10CM:E85.0 DOID:0050636 ICD9:277.39 UMLS:C0268389 Orphanet:85450 MESH:C538249 OMIM:105200 SCTID:66451004" MONDO:0009496 "UMLS:C1855606 OMIM:245160 GARD:0010512" UBERON:0005988 NCBITaxon:10358 "GC_ID:1" @@ -16042,69 +16035,69 @@ MONDO:0030976 "OMIM:619215" MONDO:0000239 "Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens)." "UMLS:C0259737 MEDGEN:537148 SCTID:23892008 ICD9:117.9 DOID:0050072" UBERON:0006921 MONDO:0012966 "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene." "OMIM:612628" -MONDO:0007982 "Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia." "NCIT:C131868 Orphanet:33067 DOID:0080020 UMLS:C0265295 OMIM:156400 MESH:C537564 GARD:0000079 ICD10:Q78.5 SCTID:24629003" +MONDO:0007982 "Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia." "NCIT:C131868 Orphanet:33067 DOID:0080020 UMLS:C0265295 OMIM:156400 ICD10CM:Q78.5 MESH:C537564 GARD:0000079 SCTID:24629003" MONDO:0012882 "MESH:C567531 OMIM:612372" MONDO:0005036 "A carcinoma that arises from glandular epithelial cells of the stomach" "DOID:3717 EFO:0000503 UMLS:C0278701 ONCOTREE:STAD SCTID:408647009 NCIT:C4004 Orphanet:464463" MONDO:0020038 "Orphanet:98074" UBERON:0003586 -MONDO:0002367 "Primary or metastatic malignant neoplasm involving the kidney." "SCTID:363518003 UMLS:CN881103 SCTID:126880001 MESH:D007680 NCIT:C7548 NCIT:C3150 ICD9:189.0 DOID:263 ICD10:C64" +MONDO:0002367 "Primary or metastatic malignant neoplasm involving the kidney." "SCTID:363518003 UMLS:CN881103 SCTID:126880001 MESH:D007680 NCIT:C7548 ICD9:189.0 NCIT:C3150 DOID:263" http://identifiers.org/hgnc/13201 MONDO:0001894 "A sarcoma that arises from the spinal cord." "DOID:14152 UMLS:C1336049 NCIT:C5152" CL:1000276 "A smooth muscle cell that is part of the duodenum." "FMA:15058" -MONDO:0016555 "Orphanet:238696 ICD10:P72.2" +MONDO:0016555 "ICD10CM:P72.2 Orphanet:238696" MONDO:0022699 "GARD:0010448" UBERON:0003320 CHEBI:33356 UBERON:0010685 UBERON:0002122 -MONDO:0015357 "UMLS:CN242104 ICD10:E20.8 Orphanet:140286" +MONDO:0015357 "UMLS:CN242104 ICD10CM:E20.8 Orphanet:140286" UBERON:0034876 -MONDO:0009445 "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked." "MESH:C535727 Orphanet:2274 SCTID:403779009 OMIM:242520 GARD:0001993 ICD9:571.8 UMLS:C1275088 ICD10:Q87.8" +MONDO:0009445 "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked." "MESH:C535727 Orphanet:2274 ICD10CM:Q87.8 SCTID:403779009 OMIM:242520 GARD:0001993 ICD9:571.8 UMLS:C1275088" http://identifiers.org/hgnc/12269 NCBITaxon:33340 "GC_ID:1" -MONDO:0017752 "Orphanet:309778 ICD10:E77.8" +MONDO:0017752 "Orphanet:309778 ICD10CM:E77.8" UBERON:0004783 MONDO:0003373 "An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells." "UMLS:C1335743 NCIT:C6183 DOID:5287" MONDO:0020039 "UMLS:CN227738 Orphanet:98078" UBERON:0003585 GO:0046655 "The chemical reactions and pathways involving folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines." MONDO:0024541 "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene." "OMIM:222470 UMLS:C1857276 Orphanet:84064 DOID:0111415 UMLS:CN034858" -MONDO:0002306 "A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area." "UMLS:C0155149 ICD9:372.21 ICD10:H10.52 DOID:2455 SCTID:69397000" +MONDO:0002306 "A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area." "UMLS:C0155149 ICD9:372.21 DOID:2455 SCTID:69397000" MONDO:0030973 "OMIM:619223" MONDO:0022432 "MESH:C536593" MONDO:0022698 -MONDO:0008714 "Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth." "OMIM:201170 GARD:0000496 MESH:C538183 DOID:0060383 Orphanet:1788 SCTID:720430002 UMLS:C1860119 ICD10:Q75.4" -MONDO:0017599 "Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism." "ICDO:9591/3 NCIT:C80309 UMLS:C2699508 Orphanet:300869 ONCOTREE:SDRPL ICD10:C83.0 SCTID:763884007" +MONDO:0008714 "Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth." "OMIM:201170 GARD:0000496 MESH:C538183 ICD10CM:Q75.4 DOID:0060383 Orphanet:1788 SCTID:720430002 UMLS:C1860119" +MONDO:0017599 "Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism." "ICDO:9591/3 NCIT:C80309 UMLS:C2699508 Orphanet:300869 ONCOTREE:SDRPL SCTID:763884007 ICD10CM:C83.0" UBERON:0002387 HP:0011849 "Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance." "UMLS:C4280317 UMLS:C4023161 MP:0008271" UBERON:0004784 CL:0002231 "An epithelial cell of the prostate." "FMA:66817 FMA:256163" -MONDO:0007243 "Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma." "ICD10:C83.70 DOID:8584 ICD9:200.2 Orphanet:543 ICD10:C83.7 ICDO:9687/3 UMLS:C0006413 MESH:D002051 OMIM:113970 MESH:D008228 MedDRA:10067184 MedDRA:10053518 SCTID:118617000 MedDRA:10006595 NCIT:C2912 EFO:0000309 GARD:0005973 ONCOTREE:BL" +MONDO:0007243 "Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma." "DOID:8584 ICD9:200.2 Orphanet:543 ICDO:9687/3 UMLS:C0006413 MESH:D002051 OMIM:113970 MESH:D008228 MedDRA:10067184 MedDRA:10053518 SCTID:118617000 MedDRA:10006595 NCIT:C2912 EFO:0000309 GARD:0005973 ONCOTREE:BL" MONDO:0022403 "A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins." "GARD:0005763" UBERON:0010686 UBERON:0034875 IAO:0000007 "a directive information entity that describes an action the bearer will take"@en MONDO:0030974 "OMIM:619224" -MONDO:0004914 "A syndromic disease that involves the median arcuate ligament." "UMLS:C1861783 MESH:C566151 DOID:9892 ICD10:I77.4 SCTID:9250002 ICD9:447.4 GARD:0012308 OMIM:116870" +MONDO:0004914 "A syndromic disease that involves the median arcuate ligament." "UMLS:C1861783 MESH:C566151 DOID:9892 SCTID:9250002 ICD9:447.4 GARD:0012308 OMIM:116870" MONDO:0017753 "GARD:0012476 Orphanet:309810 UMLS:CN227198" UBERON:0001189 MONDO:0017165 "Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure." "Orphanet:276066 SCTID:717047007 UMLS:C4274079" http://identifiers.org/hgnc/11905 UBERON:0003322 MONDO:0008358 "Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus." "Orphanet:3026 OMIM:179270 SCTID:232373003 GARD:0004627" -MONDO:0005358 "A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death." "SCTID:20927009 ICD10:A91 NCIT:C34683 DOID:12206 EFO:0004227" +MONDO:0005358 "A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death." "SCTID:20927009 ICD10CM:A91 NCIT:C34683 DOID:12206 EFO:0004227" UBERON:0005983 http://identifiers.org/hgnc/15864 UBERON:0003588 GO:0045727 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA." MONDO:0013091 "A liver PhK deficiency caused by variants in the PHKG2 gene" "OMIM:613027 UMLS:C2751643 DOID:0111043 MESH:C567809" -MONDO:0008871 "A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits." "DOID:0060608 Orphanet:2636 OMIM:210710 ICD10:Q87.1 SCTID:254102008" +MONDO:0008871 "A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits." "DOID:0060608 Orphanet:2636 OMIM:210710 SCTID:254102008" http://identifiers.org/hgnc/10706 CHEBI:33358 ENVO:01001282 "Dust which is composed primarily of slicon dioxide." CHEBI:17790 "The primary alcohol that is the simplest aliphatic alcohol, comprising a methyl and an alcohol group." UBERON:0010688 -MONDO:0008553 "An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function." "Orphanet:721 ICD10:D69.1 DOID:0111049 MESH:D055652 NCIT:C142084 MESH:C566060 OMIM:187900 UMLS:C0272302" +MONDO:0008553 "An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function." "Orphanet:721 DOID:0111049 MESH:D055652 MESH:C566060 NCIT:C142084 OMIM:187900 UMLS:C0272302" UBERON:0004785 HP:0010702 "An increased level of gamma globulin (immunoglobulin) in the blood." "SNOMEDCT_US:129646001 UMLS:C0020455 UMLS:C1306857 UMLS:C2048011 UMLS:C0151669 UMLS:C0541985 SNOMEDCT_US:127388009 MSH:D006942" UBERON:0002124 @@ -16115,16 +16108,16 @@ ECTO:0000689 "An exposure to P450 inhibitor." MONDO:0015896 "OBSOLETE. Rare hypoparathyroidism." "Orphanet:181405" UBERON:0034874 NCBITaxon:33342 "GC_ID:1" -MONDO:0017750 "Orphanet:309568 ICD10:E77.8" +MONDO:0017750 "Orphanet:309568 ICD10CM:E77.8" UBERON:0003321 UBERON:0003587 -MONDO:0005223 "An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)" "Orphanet:98832 EFO:0003026 NCIT:C8460 UMLS:C0522631 ICDO:9872/3 ICD10:C92.0 ONCOTREE:AMLMD" +MONDO:0005223 "An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)" "Orphanet:98832 EFO:0003026 NCIT:C8460 UMLS:C0522631 ICDO:9872/3 ICD10CM:C92.0 ONCOTREE:AMLMD" UBERON:0005984 -MONDO:0005828 "A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy." "ICD10:A32.8 ICD10:A32.1 Orphanet:533 ICD10:A32.0 MedDRA:10024641 EFO:0007347 GARD:0006915 ICD10:A32 UMLS:C0023860 ICD9:027.0 DOID:11573 ICD10:A32.7 MESH:D008088 NCIT:C82994 ICD10:A32.9" -MONDO:0010865 "Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." "GARD:0004544 MESH:C535823 SCTID:715867000 Orphanet:221120 ICD10:Q82.0 OMIM:600325 UMLS:C0795939" +MONDO:0005828 "A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy." "ICD10CM:A32.1 ICD10CM:A32.7 MESH:D008088 NCIT:C82994 MedDRA:10024641 ICD10CM:A32.0 ICD10CM:A32 ICD10CM:A32.9 ICD9:027.0 GARD:0006915 EFO:0007347 DOID:11573 ICD10CM:A32.8 UMLS:C0023860 Orphanet:533" +MONDO:0010865 "Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." "GARD:0004544 MESH:C535823 SCTID:715867000 Orphanet:221120 ICD10CM:Q82.0 OMIM:600325 UMLS:C0795939" PO:0030108 "A fruit (PO:0009001) which at maturity comprises a fleshy endocarp (PO:0009086), fleshy mesocarp (PO:0009087), and fleshy exocarp (PO:0009085)." "PO_GIT:652" MONDO:0041114 "Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries." "SCTID:233958001" -MONDO:0016552 "Orphanet:238654 ICD10:Q62.2" +MONDO:0016552 "Orphanet:238654 ICD10CM:Q62.2" ENVO:01001284 "Dust which is primarily composed of barium particles." MONDO:0006467 "A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive." "UMLS:C1710177 EFO:1000594 NCIT:C46008" MONDO:0030971 "OMIM:619220" @@ -16142,14 +16135,14 @@ ENVO:01000309 "An environment which has a lower temperature than some local or g UBERON:0002384 MONDO:0011047 "This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit)." "MESH:C535928 Orphanet:3218 SCTID:716238003 OMIM:601351 UMLS:C1832438 GARD:0001688" MONDO:0006817 "A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent." "EFO:1001000 DOID:3373 ONCOTREE:PAOS NCIT:C8969 UMLS:C0206642 ICDO:9192/3 MESH:D018217" -MONDO:0004565 "Blockage of the normal flow of the intestinal contents within the bowel." "NCIT:C9175 ICD9:560.89 ICD10:K56.60 SCTID:81060008 DOID:8437 MESH:D007415 UMLS:C0021843 ICD9:560.9 ICD10:K56.69" +MONDO:0004565 "Blockage of the normal flow of the intestinal contents within the bowel." "NCIT:C9175 ICD9:560.89 SCTID:81060008 DOID:8437 MESH:D007415 UMLS:C0021843 ICD9:560.9" CHEBI:33352 MONDO:0003031 "A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma." "DOID:4521 NCIT:C40218 UMLS:C4289586" -MONDO:0005473 "Any condition affecting the anatomic and functional characteristics of the temporomandibular joint." "EFO:0005279 ICD9:524.69 NCIT:C63709 SCTID:41888000 MESH:D013705 ICD9:524.60" +MONDO:0005473 "Any condition affecting the anatomic and functional characteristics of the temporomandibular joint." "EFO:0005279 ICD9:524.69 ICD10CM:M26-M27 NCIT:C63709 SCTID:41888000 MESH:D013705 ICD9:524.60" MONDO:0008036 "UMLS:C1834635 MESH:C563552 Orphanet:589 OMIM:159400 GARD:0008575" UBERON:0003582 UBERON:0010424 -MONDO:0016551 "ICD10:Q62.2 Orphanet:238650" +MONDO:0016551 "Orphanet:238650 ICD10CM:Q62.2" MONDO:0002810 "A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma." "NCIT:C41248 DOID:3919 UMLS:C1518875" CL:1000332 "A serous secreting cell that is part of the epithelium of terminal bronchiole." "FMA:263082" MONDO:0012077 "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene." "Orphanet:803 DOID:0050752 OMIM:608627 MESH:C563895 GARD:0010499" @@ -16157,45 +16150,45 @@ MONDO:0003759 "A yolk sac tumor that arises from the ovary and occurs in childre http://identifiers.org/hgnc/1552 MONDO:0004079 "A benign adenomatous neoplasm that arises from the mucous glands in the bronchus." "DOID:7030 NCIT:C5664 UMLS:C1332640" UBERON:0001186 -MONDO:0005956 "A plague in which the bacteria have entered the bloodstream." "EFO:0007481 ICD9:020.2 SCTID:9012003 DOID:3481 UMLS:C0152936 MESH:D010930 ICD10:A20.7" -MONDO:0015353 "DOID:0111204 OMIM:600794 UMLS:C1833308 ICD10:G12.2 Orphanet:139536" +MONDO:0005956 "A plague in which the bacteria have entered the bloodstream." "EFO:0007481 ICD9:020.2 SCTID:9012003 DOID:3481 UMLS:C0152936 MESH:D010930 ICD10CM:A20.7" +MONDO:0015353 "DOID:0111204 OMIM:600794 UMLS:C1833308 ICD10CM:G12.2 Orphanet:139536" UBERON:0007281 HP:0100512 "A reduced concentration of Vitamin D." "SNOMEDCT_US:34713006 UMLS:C0042870 MSH:D014808" MONDO:0020035 "Orphanet:98061 UMLS:CN206960" -MONDO:0001776 "A concretion in the prostate." "SCTID:85324003 UMLS:C0149525 DOID:13689 NCIT:C26936 ICD9:602.0 ICD10:N42.0" +MONDO:0001776 "A concretion in the prostate." "SCTID:85324003 UMLS:C0149525 DOID:13689 NCIT:C26936 ICD9:602.0 ICD10CM:N42.0" CL:0002033 "A hematopoietic stem cell capable of rapid replenishment of myeloerythroid progenitors and limited self renewal capability. This cell is Kit-positive, Sca1-positive, CD34-positive, CD150-positive, and is Flt3-negative." -MONDO:0008009 "Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." "GARD:0000093 DOID:0050472 SCTID:69488000 UMLS:C0546966 NCIT:C84894 MESH:D056734 OMIM:158000 ICD10:Q84.1 Orphanet:573" +MONDO:0008009 "Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." "ICD10CM:Q84.1 GARD:0000093 DOID:0050472 SCTID:69488000 UMLS:C0546966 NCIT:C84894 MESH:D056734 OMIM:158000 OMIM:252200 Orphanet:573" MONDO:0008037 "OMIM:159500" UBERON:0003581 http://identifiers.org/hgnc/15865 -MONDO:0019258 "Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." "Orphanet:79253 GARD:0010324 ICD10:E70.1" +MONDO:0019258 "Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." "Orphanet:79253 ICD10CM:E70.1 GARD:0010324" UBERON:0006082 MONDO:0004526 "A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma." "UMLS:C1513364 UMLS:C1519865 DOID:8302 NCIT:C40178" UBERON:0010425 -MONDO:0016550 "Orphanet:238646 ICD10:Q62.2" +MONDO:0016550 "Orphanet:238646 ICD10CM:Q62.2" UBERON:0001185 MONDO:0000975 "A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions." "UMLS:C0153972 NCIT:C3606 ICD9:214.4 DOID:10206 SCTID:93162007" -MONDO:0016207 "Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins." "SCTID:410494003 Orphanet:209959 UMLS:C1444621 ICD10:H20.2" +MONDO:0016207 "Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins." "SCTID:410494003 Orphanet:209959 UMLS:C1444621" MONDO:0012162 "Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene." "DOID:0060864 Orphanet:99001 OMIM:608970 UMLS:C1837029" CHEBI:16277 "A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens has been replaced by a halogen atom." MONDO:0004235 "An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis." "EFO:1001460 SCTID:307496006 UMLS:C0012813 NCIT:C26752 DOID:7475 MESH:D004238" HP:0000830 "A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone." "UMLS:C4025821" -MONDO:0019933 "Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." "MedDRA:10000599 SCTID:74107003 GARD:0005725 EFO:1001485 UMLS:C0001206 DOID:2449 OMIM:102200 Orphanet:963 MESH:D000172 OMIM:300943 NCIT:C84533 ICD10:E22.0" -MONDO:0015689 "A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy." "ICDO:9965/3 Orphanet:168947 ICD10:D47.1 UMLS:C4545381 ONCOTREE:MLNPDGFRA DOID:0080165 NCIT:C84275 UMLS:C2827360 SCTID:738527001" +MONDO:0019933 "Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." "MedDRA:10000599 SCTID:74107003 GARD:0005725 EFO:1001485 UMLS:C0001206 DOID:2449 OMIM:102200 Orphanet:963 MESH:D000172 OMIM:300943 NCIT:C84533" +MONDO:0015689 "A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy." "ICDO:9965/3 Orphanet:168947 UMLS:C4545381 ONCOTREE:MLNPDGFRA DOID:0080165 NCIT:C84275 UMLS:C2827360 SCTID:738527001 ICD10CM:D47.1" MONDO:0003585 "A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma." "DOID:5693 NCIT:C7811 UMLS:C0278608" http://identifiers.org/hgnc/11909 UBERON:0007280 UBERON:0004780 CP:0000027 "Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain." MONDO:0013842 "Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency." "OMIM:614662 DOID:0090140 UMLS:C3553382 Orphanet:168588 NCIT:C131084" -MONDO:0015352 "DOID:0111206 OMIM:608634 Orphanet:139525 ICD10:G12.2 OMIM:158590 OMIM:615575 MESH:C580044 OMIM:613376" +MONDO:0015352 "DOID:0111206 OMIM:608634 Orphanet:139525 OMIM:158590 OMIM:615575 ICD10CM:G12.2 MESH:C580044 OMIM:613376" GO:0010648 "Any process that decreases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment." HP:0000074 "Blockage of urine flow from the renal pelvis to the proximal ureter." "UMLS:C0521619 SNOMEDCT_US:95575002 MSH:C537373" MONDO:0015369 "Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the \"molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." "UMLS:CN199461 Orphanet:140874" ECTO:0000486 "An exposure to application." GO:0045995 "Any process that modulates the frequency, rate or extent of embryonic development." -MONDO:0012479 "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported." "ICD10:P78.3 OMIM:610370 MESH:C563673 DOID:0060779 SCTID:722392003 Orphanet:83620 UMLS:C1835888" -MONDO:0005108 "Any disease caused by a virus." "ICD9:078.89 ICD9:079.99 EFO:0000763 NCIT:C3439 ICD10:A94 ICD9:066.9 ICD10:B34 DOID:934 ICD9:060-066.99 MESH:D014777 ICD10:B34.9 SCTID:34014006" +MONDO:0012479 "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported." "OMIM:610370 MESH:C563673 DOID:0060779 SCTID:722392003 ICD10CM:P78.3 Orphanet:83620 UMLS:C1835888" +MONDO:0005108 "Any disease caused by a virus." "ICD9:078.89 ICD9:079.99 EFO:0000763 ICD10CM:B00-B09 NCIT:C3439 ICD9:066.9 DOID:934 ICD10CM:A80-A89 ICD9:060-066.99 ICD10CM:A90-A99 MESH:D014777 SCTID:34014006 ICD10CM:B25-B34" GO:0032989 "The process in which cellular structures, including whole cells or cell parts, are generated and organized." GO:2000257 "Any process that modulates the frequency, rate or extent of protein activation cascade." ECTO:9002148 "An exposure to polycyclic hydrocarbon." @@ -16210,24 +16203,24 @@ UBERON:0003584 http://identifiers.org/hgnc/15868 UBERON:0002386 http://identifiers.org/hgnc/18362 -MONDO:0018515 "A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." "NCIT:C5554 Orphanet:424002 SCTID:766979005 UMLS:C1335690 ICD10:C20 DOID:5528" +MONDO:0018515 "A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." "NCIT:C5554 Orphanet:424002 SCTID:766979005 UMLS:C1335690 DOID:5528 ICD10CM:C20" GO:0030901 "The process whose specific outcome is the progression of the midbrain over time, from its formation to the mature structure. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)." -MONDO:0010437 "Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." "DOID:0111502 OMIM:300816 SCTID:722212004 ICD10:G31.8 UMLS:C3151753 UMLS:C4302745 Orphanet:238329" +MONDO:0010437 "Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." "ICD10CM:G31.8 DOID:0111502 OMIM:300816 SCTID:722212004 UMLS:C3151753 UMLS:C4302745 Orphanet:238329" CHEBI:176841 "Any member of a group of vitamers that belong to the chemical structural class called biotins that exhibit biological activity against vitamin B7 deficiency. Vitamin B7 deficiency is very rare in individuals who take a normal balanced diet. Foods rich in biotin are egg yolk, liver, cereals, vegetables (spinach, mushrooms) and rice. Symptoms associated with vitamin B7 deficiency include thinning hair, scaly skin rashes around eyes, nose and mouth, and brittle nails. The vitamers include biotin and its ionized and salt forms." -MONDO:0008842 "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia." "OMIM:208920 MESH:C538013 ICD10:G11.3 DOID:0050754 UMLS:C1859598 GARD:0009283 Orphanet:1168" +MONDO:0008842 "A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia." "ICD10CM:G11.3 OMIM:208920 MESH:C538013 DOID:0050754 UMLS:C1859598 GARD:0009283 Orphanet:1168" MONDO:0003246 "An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae." "NCIT:C27388 ICDO:8172/3 DOID:5026 UMLS:C1266018" http://identifiers.org/hgnc/11908 UBERON:0004781 -MONDO:0019943 "Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia." "OMIM:160120 ICD10:G71.1 UMLS:C1834559 GARD:0001512 Orphanet:972" -MONDO:0004703 "Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: \"flat tumor\". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)" "SCTID:92546004 ICD10:D09.0 ICD9:233.7 DOID:9053 UMLS:C0154091 NCIT:C3644" -MONDO:0004702 "The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present." "ICD9:622.2 NCIT:C3976 UMLS:C0269194 SCTID:50923006 ICD10:N88.0 DOID:9043" +MONDO:0019943 "Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia." "OMIM:160120 ICD10CM:G71.1 UMLS:C1834559 GARD:0001512 Orphanet:972" +MONDO:0004703 "Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: \"flat tumor\". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)" "SCTID:92546004 ICD9:233.7 DOID:9053 UMLS:C0154091 NCIT:C3644 ICD10CM:D09.0" +MONDO:0004702 "The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present." "ICD9:622.2 NCIT:C3976 ICD10CM:N88.0 UMLS:C0269194 SCTID:50923006 DOID:9043" HP:0010468 "Absence or underdevelopment of the testes." "UMLS:C4023817" MONDO:0013686 "Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability." "UMLS:C3280443 SCTID:711265009 DOID:0111191 Orphanet:488650 OMIM:614321" UBERON:0002120 ECTO:0000637 "An exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor." UBERON:0001188 UBERON:0002385 -MONDO:0007259 "Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies)." "ICD10:Q87.0 Orphanet:363705 OMIM:114620 SCTID:763320005 UMLS:C2676032 MESH:C567298" +MONDO:0007259 "Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies)." "Orphanet:363705 ICD10CM:Q87.0 OMIM:114620 SCTID:763320005 UMLS:C2676032 MESH:C567298" MONDO:0019234 "Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD)." "DOID:0080377 GARD:0011890 Orphanet:79189 MESH:C536664 GARD:0009473 SCTID:742876007 MESH:C531857 NCIT:C146639 OMIMPS:214100" MONDO:0100404 "Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)" "NCIT:C122623 NCIT:C174129" http://identifiers.org/hgnc/8847 @@ -16237,15 +16230,15 @@ MONDO:0022434 UBERON:0003583 MONDO:0020804 "A carcinoma involving the basal cells." "NCIT:C156767 NCIT:C7586 MESH:D002280" GO:0051493 "Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures." -MONDO:0011402 "Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance." "UMLS:C1858726 ICD10:Q87.8 SCTID:702433001 MESH:C565822 Orphanet:48431 ICD9:759.89 OMIM:604168" +MONDO:0011402 "Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance." "UMLS:C1858726 SCTID:702433001 MESH:C565822 Orphanet:48431 ICD10CM:Q87.8 ICD9:759.89 OMIM:604168" MONDO:0021236 UBERON:0001187 UBERON:0004782 -MONDO:0005106 "A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." "DOID:3315 MESH:D008067 EFO:0000759 ICD10:D17 NCIT:C3192 ICDO:8850/0 ICD9:214 OMIM:151900 ICD10:D17.9 UMLS:C0023798 SCTID:93163002 ICD9:214.9" -MONDO:0013062 "Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene." "DOID:0110653 Orphanet:101016 UMLS:C2751830 Orphanet:768 OMIM:612955 ICD10:I45.8 MESH:C567842" +MONDO:0005106 "A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." "DOID:3315 MESH:D008067 EFO:0000759 NCIT:C3192 ICDO:8850/0 ICD9:214 OMIM:151900 UMLS:C0023798 SCTID:93163002 ICD9:214.9" +MONDO:0013062 "Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene." "DOID:0110653 Orphanet:101016 UMLS:C2751830 Orphanet:768 OMIM:612955 MESH:C567842" MONDO:0009645 "MESH:C565371 UMLS:C1854982 OMIM:252250" MONDO:0040870 "A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink." -MONDO:0013885 "Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies." "SCTID:763795006 UMLS:C3553660 Orphanet:420179 OMIM:614753 ICD10:Q87.3" +MONDO:0013885 "Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies." "SCTID:763795006 ICD10CM:Q87.3 UMLS:C3553660 Orphanet:420179 OMIM:614753" MONDO:0013193 "Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene." "OMIM:613239 Orphanet:79102" http://identifiers.org/hgnc/2035 GO:0003700 "A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons." @@ -16253,9 +16246,9 @@ MONDO:0019250 "Orphanet:79214 UMLS:CN227606" SO:0000733 "An attribute describing a located_sequence_feature." http://identifiers.org/hgnc/4696 UBERON:0009636 -MONDO:0016472 "Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas)." "ICD9:125.7 DOID:14418 Orphanet:231 SCTID:396334002 GARD:0006286 MESH:D004320 MedDRA:10013618 UMLS:C0013100 EFO:0007241 NCIT:C84677 ICD10:B72" -MONDO:0003072 "A malignant neoplasm involving the retina." "SCTID:363465007 ICD9:190.5 ICD10:C69.2 DOID:4645 NCIT:C3216 EFO:0005716 NCIT:C4800 MESH:D019572" -MONDO:0008046 "Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997." "OMIM:160010 UMLS:C1834567 SCTID:725903003 Orphanet:99846 MESH:C563546 ICD10:R82.1" +MONDO:0016472 "Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas)." "ICD9:125.7 DOID:14418 Orphanet:231 SCTID:396334002 GARD:0006286 MESH:D004320 MedDRA:10013618 UMLS:C0013100 EFO:0007241 NCIT:C84677 ICD10CM:B72" +MONDO:0003072 "A malignant neoplasm involving the retina." "SCTID:363465007 ICD9:190.5 DOID:4645 NCIT:C3216 EFO:0005716 NCIT:C4800 MESH:D019572" +MONDO:0008046 "Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997." "OMIM:160010 UMLS:C1834567 ICD10CM:R82.1 SCTID:725903003 Orphanet:99846 MESH:C563546" MONDO:0100322 "A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7." CHR:9606-chr15q14 http://identifiers.org/hgnc/14244 @@ -16264,24 +16257,24 @@ MONDO:0001567 "Nephrocalcinosis is a disorder that occurs when too much calcium MONDO:0017954 "Orphanet:324927 UMLS:CN204100" MONDO:0020032 "OBSOLETE. Rare urinary system benign neoplasm." "Orphanet:98058 UMLS:CN206957" http://identifiers.org/hgnc/3498 -MONDO:0009749 "Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy." "GARD:0006500 DOID:0090068 Orphanet:643 UMLS:C1850386 ICD10:G60.8 MESH:D056768 OMIM:256850" -MONDO:0015559 "Orphanet:158793 ICD10:C96.2" +MONDO:0009749 "Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy." "GARD:0006500 DOID:0090068 Orphanet:643 UMLS:C1850386 MESH:D056768 ICD10CM:G60.8 OMIM:256850" +MONDO:0015559 "ICD10CM:C96.2 Orphanet:158793" MONDO:0028737 "Orphanet:498345 HP:0005912" -MONDO:0008766 "Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents." "ICD10:H35.5 OMIM:204110 SCTID:720983002 Orphanet:1021 MESH:C536604 GARD:0000637" +MONDO:0008766 "Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents." "OMIM:204110 ICD10CM:H35.5 SCTID:720983002 Orphanet:1021 MESH:C536604 GARD:0000637" MONDO:0010630 "OMIM:308290" -MONDO:0008165 "Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." "UMLS:C1862323 UMLS:C1833690 Orphanet:98868 ICD9:282.1 Orphanet:288 SCTID:191169008 ICD10:D58.1 OMIM:166900" +MONDO:0008165 "Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." "UMLS:C1862323 UMLS:C1833690 Orphanet:98868 ICD9:282.1 Orphanet:288 ICD10CM:D58.1 SCTID:191169008 OMIM:166900" GO:0022832 "Enables the transmembrane transfer of a solute by a channel whose open state is dependent on the voltage across the membrane in which it is embedded." PATO:0001545 "A physical quality inhering in a bearer by virtue of the bearer's inability of being turned, bowed, or twisted without breaking." MONDO:0004022 "A meningioma that affects the superior sagittal sinus and invades the parasagittal angle." "DOID:6869 UMLS:C0751304 NCIT:C4960 MESH:D008579" -MONDO:0009644 "MESH:C565373 PMID:10053004 Orphanet:833 Orphanet:308393 Orphanet:99732 UMLS:C1854989 ICD10:E72.1 DOID:0111163 OMIM:252160" +MONDO:0009644 "MESH:C565373 ICD10CM:E72.1 PMID:10053004 Orphanet:833 Orphanet:308393 Orphanet:99732 UMLS:C1854989 DOID:0111163 OMIM:252160" http://identifiers.org/hgnc/4431 MONDO:0016756 "UMLS:CN202004 Orphanet:252190" GO:1905278 "Any process that activates or increases the frequency, rate or extent of epithelial tube formation." CL:1000490 "A mesothelial cell that is part of the peritoneum." "FMA:86736" -MONDO:0010215 "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene." "Orphanet:910 SCTID:42530008 OMIM:278760 DOID:0110848 NCIT:C3968 Orphanet:220295 ICD10:Q82.1 GARD:0005628 Orphanet:276264 MESH:C562592" +MONDO:0010215 "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene." "ICD10CM:Q82.1 Orphanet:910 SCTID:42530008 OMIM:278760 DOID:0110848 NCIT:C3968 Orphanet:220295 GARD:0005628 Orphanet:276264 MESH:C562592" http://identifiers.org/hgnc/1936 CL:0000255 -MONDO:0015558 "Orphanet:158778 ICD10:C96.2" +MONDO:0015558 "Orphanet:158778 ICD10CM:C96.2" http://identifiers.org/hgnc/282 UBERON:0018261 CHR:9606-chr15q13 @@ -16289,14 +16282,14 @@ MONDO:0008446 "OMIM:182882" CHEBI:33856 "An amino acid whose structure includes an aromatic ring." MONDO:0014923 "Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene." "UMLS:C4310710 OMIM:617115" http://identifiers.org/hgnc/23752 -MONDO:0004492 "An inflammatory process affecting the mediastinum." "ICD9:519.2 ICD10:J98.51 SCTID:47597000 NCIT:C26827 DOID:819 MESH:D008480 ICD10:J98.5 UMLS:C0025064" +MONDO:0004492 "An inflammatory process affecting the mediastinum." "ICD9:519.2 ICD10CM:J98.51 SCTID:47597000 NCIT:C26827 DOID:819 MESH:D008480 UMLS:C0025064" MONDO:0017955 "UMLS:CN204101 Orphanet:324930" NCBITaxon:9347 "GC_ID:1" http://identifiers.org/hgnc/3233 GO:0060841 "The progression of the venous blood vessel over time from its initial formation to the mature structure. Venous blood vessels carry blood back to the heart after the capillary bed." MONDO:0100239 "An instance of hypertrophic pyloric stenosis that is inherited." "OMIM:612017 OMIM:179010 OMIMPS:179010 OMIM:300711 OMIM:612525 OMIM:610260" MONDO:0014813 "Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene." "UMLS:C4225170 OMIM:616881 DOID:0060795" -MONDO:0009643 "Orphanet:99732 UMLS:C1854988 DOID:0111164 Orphanet:833 ICD10:E72.1 Orphanet:308386 OMIM:252150 MESH:C565372 PMID:9731530" +MONDO:0009643 "Orphanet:99732 UMLS:C1854988 DOID:0111164 ICD10CM:E72.1 Orphanet:833 Orphanet:308386 OMIM:252150 MESH:C565372 PMID:9731530" http://identifiers.org/hgnc/2037 GO:2000082 "Any process that modulates the frequency, rate or extent of L-ascorbic acid biosynthetic process." UBERON:0015766 @@ -16307,64 +16300,63 @@ MONDO:0700084 "Any myopathy in which the cause of the disease is a variation in MONDO:0024539 "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." "OMIM:215500 Orphanet:75377" MONDO:0012194 "OMIM:609122 Orphanet:231160 UMLS:C1836757 MESH:C563792" MONDO:0016279 "OBSOLETE. Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps." -MONDO:0014244 "Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'" "NCIT:C125388 ICD10:G60.8 GARD:12723 DOID:0070149 GARD:0012732 OMIM:615548 Orphanet:391397 UMLS:C3809882" -MONDO:0019809 "Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth." "Orphanet:95449 MedDRA:10010370 NCIT:C103936 ICD9:746.4 UMLS:C0158617 ICD10:Q23.1 SCTID:28656008" +MONDO:0014244 "Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'" "NCIT:C125388 GARD:12723 DOID:0070149 GARD:0012732 OMIM:615548 Orphanet:391397 ICD10CM:G60.8 UMLS:C3809882" +MONDO:0019809 "Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth." "Orphanet:95449 MedDRA:10010370 NCIT:C103936 ICD9:746.4 UMLS:C0158617 SCTID:28656008" MONDO:0017952 "UMLS:CN204097 Orphanet:324767" UBERON:0008436 -MONDO:0019180 "Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." "OMIM:600376 GARD:0006626 DOID:1270 ICD9:448.0 OMIM:610655 OMIM:601101 OMIMPS:187300 MESH:D013683 NCIT:C35064 OMIM:187300 Orphanet:774 UMLS:C0039445 SCTID:21877004 ICD10:I78.0 MedDRA:10019883 OMIM:615506" +MONDO:0019180 "Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." "OMIM:600376 GARD:0006626 DOID:1270 ICD9:448.0 OMIM:610655 OMIM:601101 OMIMPS:187300 MESH:D013683 NCIT:C35064 ICD10CM:I78.0 OMIM:187300 Orphanet:774 UMLS:C0039445 SCTID:21877004 MedDRA:10019883 OMIM:615506" CHEBI:62031 "Zwitterionic form of a polar amino acid having an anionic carboxy group and a protonated amino group." MONDO:0016754 MONDO:0022057 "A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases." "GARD:0006256 NCIT:C54301 UMLS:C0334574 MESH:C537961 ICDO:9340/0" UBERON:0007238 -MONDO:0019251 "Orphanet:79215 ICD10:E77.1" -MONDO:0016955 "Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person." "DOID:0111159 UMLS:C0795812 GARD:0005347 MESH:C537644 Orphanet:262860 ICD10:Q92.3" +MONDO:0019251 "Orphanet:79215 ICD10CM:E77.1" +MONDO:0016955 "Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person." "DOID:0111159 UMLS:C0795812 GARD:0005347 MESH:C537644 Orphanet:262860" http://identifiers.org/hgnc/4699 CL:0000593 "A steroid hormone secreting cell that secretes androgen." GO:1903727 "Any process that activates or increases the frequency, rate or extent of phospholipid metabolic process." -MONDO:0019538 "Polycythemia that is caused by stress." "SCTID:36874002 ICD10:D75.1 GARD:0008402 NCIT:C27174 MedDRA:10053885 UMLS:CN206365 UMLS:C2242785 UMLS:C0541719 DOID:2838 Orphanet:90041 MedDRA:10042217" +MONDO:0019538 "Polycythemia that is caused by stress." "SCTID:36874002 ICD10CM:D75.1 GARD:0008402 NCIT:C27174 MedDRA:10053885 UMLS:CN206365 UMLS:C2242785 UMLS:C0541719 DOID:2838 Orphanet:90041 MedDRA:10042217" MONDO:0001976 "A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" "EFO:1001290 UMLS:C0264746 DOID:14483 ICD9:646.80 MESH:D020150 SCTID:25113000" http://identifiers.org/hgnc/1938 GO:1903827 "Any process that modulates the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell." -MONDO:0015556 "Orphanet:158772 ICD10:Q82.2" +MONDO:0015556 "Orphanet:158772 ICD10CM:Q82.2" ECTO:0000672 "An exposure to agonist." GO:0030186 "The chemical reactions and pathways involving melatonin (N-acetyl-5-methoxytryptamine)." MONDO:0008444 "OMIM:182830 MESH:C566679 UMLS:C1866849" -MONDO:0011901 "Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement." "SCTID:720637005 GARD:0009196 MESH:C535415 Orphanet:101102 OMIM:607731 UMLS:C1843173 ICD10:G60.0 DOID:0110166" +MONDO:0011901 "Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement." "ICD10CM:G60.0 SCTID:720637005 GARD:0009196 MESH:C535415 Orphanet:101102 OMIM:607731 UMLS:C1843173 DOID:0110166" GO:0006073 "The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues, occurring at the level of an individual cell." MONDO:0015752 "This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence." "Orphanet:171860 UMLS:CN226733" http://identifiers.org/hgnc/15446 MONDO:0007246 "OMIM:114065 MESH:C566182 UMLS:C1861974" MONDO:0006764 "Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts." "SCTID:24321005 MESH:D016921 DOID:11608 ICD9:117.9 UMLS:C0085438 MedDRA:10017538 EFO:1000942 ICD9:321.1" -MONDO:0015326 "This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia)." "UMLS:CN199356 ICD10:Q87.8 GARD:0003994 Orphanet:1390" +MONDO:0015326 "This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia)." "UMLS:CN199356 GARD:0003994 ICD10CM:Q87.8 Orphanet:1390" MONDO:0011857 "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene." "UMLS:C1837014 OMIM:607554 Orphanet:334 MESH:C563817" MONDO:0016753 MONDO:0013888 "Any essential tremor in which the cause of the disease is a mutation in the FUS gene." "OMIM:614782 DOID:0111431 UMLS:C3539195" MONDO:0009649 "OMIM:252350 SCTID:69116000 ICD9:437.5 Orphanet:2573" MONDO:0006048 -MONDO:0014185 "3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present." "ICD10:Q93.5 DOID:0060418 UMLS:CN036884 Orphanet:1621 OMIM:615433 UMLS:C3809490 SCTID:726705007 MESH:C536808" -MONDO:0015555 "Orphanet:158769 ICD10:Q82.2" +MONDO:0014185 "3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present." "ICD10CM:Q93.5 DOID:0060418 UMLS:CN036884 Orphanet:1621 OMIM:615433 UMLS:C3809490 SCTID:726705007 MESH:C536808" +MONDO:0015555 "Orphanet:158769 ICD10CM:Q82.2" MONDO:0003209 "A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation." "DOID:4923 UMLS:C1336743 NCIT:C6459" -MONDO:0017950 "Orphanet:324761 UMLS:CN437676 ICD10:Q87.1" +MONDO:0017950 "Orphanet:324761 UMLS:CN437676 ICD10CM:Q87.1" http://identifiers.org/hgnc/8133 -MONDO:0014019 "Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene." "EFO:0009040 OMIM:615034 UMLS:C3554374 DOID:0090052 Orphanet:420485 ICD10:G24.8" +MONDO:0014019 "Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene." "ICD10CM:G24.8 EFO:0009040 OMIM:615034 UMLS:C3554374 DOID:0090052 Orphanet:420485" MONDO:0013394 "UMLS:C3151000 Orphanet:306547 OMIM:613730" CHEBI:50427 "A drug or agent which antagonizes or impairs any mechanism leading to blood platelet aggregation, whether during the phases of activation and shape change or following the dense-granule release reaction and stimulation of the prostaglandin-thromboxane system." http://identifiers.org/hgnc/3236 MONDO:0010634 "UMLS:C1839927 OMIM:308600 MESH:C564118" -MONDO:0019683 "Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly." "GARD:0005087 MESH:C538153 OMIM:186000 OMIM:608180 ICD10:Q70.0 OMIM:610234 SCTID:715724002 Orphanet:93403 ICD10:Q70.2" MONDO:0007247 "GARD:0009598 OMIM:114100 Orphanet:51 UMLS:C1861967 MESH:C536276" CHEBI:83813 "Any of the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. Apart from glycine, which is non-chiral, all have L configuration." MONDO:0016752 "Orphanet:252131 UMLS:CN202000" MONDO:0005606 "An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." "ICDO:8211/3 MESH:D000230 NCIT:C65192 DOID:4929 UMLS:C0205645 EFO:0006500" GO:0006996 "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane." -MONDO:0019719 "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux." "MESH:C566906 DOID:0080205 OMIMPS:610805 UMLS:C1968949 Orphanet:93545" +MONDO:0019719 "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux." "MESH:C566906 DOID:0080205 ICD10CM:Q60-Q64 OMIMPS:610805 UMLS:C1968949 Orphanet:93545" http://identifiers.org/hgnc/16644 -MONDO:0013263 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene." "ICD10:H35.5 DOID:0110364 OMIM:613428 UMLS:C3150691" -MONDO:0005127 "A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." "ICD10:A30.5 UMLS:C0023348 SCTID:21560005 DOID:10887 MESH:D015440 ICD9:030.0 EFO:0001057" +MONDO:0013263 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene." "DOID:0110364 OMIM:613428 UMLS:C3150691" +MONDO:0005127 "A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." "UMLS:C0023348 SCTID:21560005 DOID:10887 MESH:D015440 ICD9:030.0 ICD10CM:A30.5 EFO:0001057" MONDO:0100124 "NAA10-related syndrome is an X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies." -MONDO:0017951 "UMLS:C0265255 OMIMPS:190350 ICD9:759.89 Orphanet:324764 ICD10:Q87.8 SCTID:18077009" +MONDO:0017951 "UMLS:C0265255 OMIMPS:190350 ICD10CM:Q87.8 ICD9:759.89 Orphanet:324764 SCTID:18077009" MONDO:0014042 "Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene." "OMIM:615092 UMLS:C3554496 Orphanet:54260" -MONDO:0015554 "Orphanet:158766 ICD10:Q82.2" +MONDO:0015554 "Orphanet:158766 ICD10CM:Q82.2" CL:0000646 "Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament." "FMA:62516 BTO:0000939" MONDO:0024358 "A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device." "DOID:0080302 SCTID:230493001" MONDO:0009430 "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene." "UMLS:C0342643 OMIM:241520 MESH:C562792 Orphanet:289176" @@ -16374,26 +16366,26 @@ CHEBI:24261 "Glucocorticoids are a class of steroid hormones that regulate a var MONDO:0010637 "UMLS:C3887525 Orphanet:2340 MESH:C536159 OMIM:308800" CHEBI:44185 UBERON:0009638 -MONDO:0013025 "6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." "SCTID:719663005 NCIT:C36470 Orphanet:251056 UMLS:C3150215 ICD10:Q93.5 UMLS:C4304527 OMIM:612863 GARD:0003764 DOID:0060424" +MONDO:0013025 "6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss." "SCTID:719663005 NCIT:C36470 Orphanet:251056 UMLS:C3150215 UMLS:C4304527 ICD10CM:Q93.5 OMIM:612863 GARD:0003764 DOID:0060424" MONDO:0025096 "A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte." "UMLS:C0276241 SCTID:24043009 MESH:D008304" CL:0009018 "A lymphocyte that resides in the lamina propria of the large intestine." CL:1001598 "A glandular cell found in the epithelium of the small intestine. Example: Enterocytes, Goblet cells, enteroendocrine cells; Paneth cells; M cells; Somatostatin-secreting Cells (D-cells) ." "CALOHA:TS-1286 FMA:86928" -MONDO:0008730 "A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." "SCTID:124220008 ICD10:E25.0 GARD:0001469 ICD9:277.6 Orphanet:418 Orphanet:90793 OMIM:202110" +MONDO:0008730 "A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." "SCTID:124220008 ICD10CM:E25.0 GARD:0001469 ICD9:277.6 Orphanet:90793 Orphanet:418 OMIM:202110" http://identifiers.org/hgnc/20153 UBERON:0018260 CHEBI:51721 "A ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) or R(1)C#C-C(=O)R(2) (R(2) =/= H) in which the ketonic C=O function is conjugated to an unsaturated C-C bond at the alpha,beta position." GO:0006633 "The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes." -MONDO:0018689 "An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count." "ICDO:9733/3 ICD10:C90.10 MESH:D007952 UMLS:C0023484 NCIT:C3180 Orphanet:454714 SCTID:95210003 ICD9:203.1 EFO:0006475 DOID:9513 ICD9:203.10 ICD10:C90.1 GARD:0009373" +MONDO:0018689 "An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count." "ICDO:9733/3 MESH:D007952 UMLS:C0023484 NCIT:C3180 Orphanet:454714 SCTID:95210003 ICD9:203.1 EFO:0006475 DOID:9513 ICD9:203.10 GARD:0009373" MONDO:0003255 "An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum." "NCIT:C6601 DOID:5046 UMLS:C1334656" MONDO:0010636 "OMIM:308750 UMLS:C1839911 MESH:C536873" MONDO:0009646 "UMLS:C1854978 MESH:C565370 OMIM:252270" -MONDO:0008877 "Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria." "SCTID:59531002 OMIM:211000 MESH:C536239 ICD10:E70.8 GARD:0005939 UMLS:C0268478 Orphanet:94086" +MONDO:0008877 "Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria." "SCTID:59531002 OMIM:211000 MESH:C536239 GARD:0005939 ICD10CM:E70.8 UMLS:C0268478 Orphanet:94086" MONDO:0002156 "A disease involving the fallopian tube." "MESH:D005184 SCTID:128134005 NCIT:C26771 UMLS:C0015556 DOID:1962" MONDO:0006659 "Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension." "SCTID:361133006 MedDRA:10065418 UMLS:C0003851 MESH:D001162 ICD9:440.8 EFO:1000820 DOID:5160" MONDO:0018634 "Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants." "UMLS:C0206246 NCIT:C84555 Orphanet:444116 MESH:D028226 SCTID:367601000119103 GARD:0006611" FOODON:03460130 "A food modification process where physical or chemical changes are effected in any food ingredient through a physical or non-enzymatic chemical process."@en "http://www.langual.org/langual_thesaurus.asp?termid=H0130" -MONDO:0018245 "2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria." "UMLS:CN204807 Orphanet:369881 ICD10:Q93.5" -MONDO:0002474 "A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria." "ICD9:271.8 OMIM:260000 ICD10:E72.53 DOID:2977 OMIM:613616 UMLS:C0020501 Orphanet:416 MedDRA:10020703 OMIMPS:259900 ICD10:E74.8 MESH:D006960 NCIT:C123158 SCTID:17901006 OMIM:259900" +MONDO:0018245 "2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria." "UMLS:CN204807 Orphanet:369881 ICD10CM:Q93.5" +MONDO:0002474 "A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria." "ICD9:271.8 OMIM:260000 DOID:2977 OMIM:613616 UMLS:C0020501 Orphanet:416 MedDRA:10020703 ICD10CM:E74.8 OMIMPS:259900 MESH:D006960 NCIT:C123158 SCTID:17901006 OMIM:259900" MONDO:0012341 "Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene." "OMIM:609755" MONDO:0014146 "An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13." "DOID:0090108 Orphanet:2238 OMIM:615361 UMLS:C3809243 Orphanet:428" http://identifiers.org/hgnc/9330 @@ -16405,20 +16397,20 @@ MONDO:0009227 "Any myofibromatosis in which the cause of the disease is a mutati GO:0030057 "A cell-cell junction in which: on the cytoplasmic surface of each interacting plasma membrane is a dense plaque composed of a mixture of intracellular anchor proteins; a bundle of keratin intermediate filaments is attached to the surface of each plaque; transmembrane adhesion proteins of the cadherin family bind to the plaques and interact through their extracellular domains to hold the adjacent membranes together by a Ca2+-dependent mechanism." NCBITaxon:2662056 "GC_ID:1" UBERON:0012168 -MONDO:0020441 "Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported." "ICD10:Q26.8 Orphanet:99110" +MONDO:0020441 "Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported." "Orphanet:99110 ICD10CM:Q26.8" http://identifiers.org/hgnc/3239 GO:0001838 "The morphogenesis of an embryonic epithelium into a tube-shaped structure." PATO:0002303 "A quality of an object that has a value that is decreased compared to normal or average." UBERON:0007499 http://identifiers.org/hgnc/11743 -MONDO:0020693 "A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." "OMIM:306000 Orphanet:264580 ICD10:E74.0" -MONDO:0004633 "A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)" "ICD10:C81.2 MESH:D006689 ICDO:9652/3 Orphanet:98844 ONCOTREE:MCCHL NCIT:C3517 ICD9:201.6 SCTID:118609008 DOID:8654" +MONDO:0020693 "A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." "OMIM:613027 OMIM:306000 Orphanet:264580" +MONDO:0004633 "A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)" "MESH:D006689 ICDO:9652/3 Orphanet:98844 ONCOTREE:MCCHL NCIT:C3517 ICD9:201.6 SCTID:118609008 DOID:8654" http://identifiers.org/hgnc/20151 http://identifiers.org/hgnc/10545 UBERON:0008430 NCBITaxon:91827 "GC_ID:1" -MONDO:0011519 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene." "UMLS:C1854594 OMIM:605192 ICD10:H90.3 DOID:0110553 MESH:C565357 GARD:0001708" -MONDO:0016681 "A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO)." "ICD10:G71.9 MedDRA:10018340 DOID:3071 GARD:0005653 NCIT:C3796 UMLS:C0206726 ONCOTREE:GSARC MESH:D018316 EFO:1001465 ICDO:9442/3 Orphanet:251576" +MONDO:0011519 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene." "UMLS:C1854594 OMIM:605192 DOID:0110553 MESH:C565357 GARD:0001708" +MONDO:0016681 "A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO)." "MedDRA:10018340 DOID:3071 GARD:0005653 NCIT:C3796 UMLS:C0206726 ONCOTREE:GSARC MESH:D018316 ICD10CM:G71.9 EFO:1001465 ICDO:9442/3 Orphanet:251576" CARO:0000007 MONDO:0002385 "A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid." "DOID:2673 ICDO:8959/0 UMLS:C1266138 NCIT:C7504 EFO:1000213" MONDO:0004743 "A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents." "GARD:0008230 DOID:9279 UMLS:C3495426 UMLS:C0598608 SCTID:419503008 NCIT:C84770 MESH:D020138 OMIM:603174" @@ -16431,12 +16423,12 @@ PO:0006210 "A portion of meristem tissue (PO:0009013) that is the outer layer of http://identifiers.org/hgnc/11742 CHEBI:23004 "The univalent carboacyl group formed by loss of -OH from the carboxy group of carbamic acid." ENVO:01001216 "A stellar radiation process during which electromagnetic waves or their quanta are emitted from a star at wavelengths between 10 nm and 400 nm." -MONDO:0017953 "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome." "UMLS:CN204099 Orphanet:324924 MESH:D056660 ICD10:E85.0" -MONDO:0006625 "Multiple symptoms associated with reduced oxygen at high altitude." "ICD10:T70.2 EFO:1000782 Wikipedia:Altitude_sickness MESH:D000532" +MONDO:0017953 "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome." "UMLS:CN204099 Orphanet:324924 MESH:D056660 ICD10CM:E85.0" +MONDO:0006625 "Multiple symptoms associated with reduced oxygen at high altitude." "EFO:1000782 Wikipedia:Altitude_sickness MESH:D000532" UBERON:0008431 MONDO:0030701 "An autoimmune form of cardiomyopathy." "DOID:0040095" -MONDO:0017923 "Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." "DOID:0050794 UMLS:C0342282 OMIMPS:186500 OMIM:186500 UMLS:CN204052 ICD10:Q78.8 Orphanet:3237 OMIM:612961 OMIM:610017" -MONDO:0019773 "Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect." "DOID:0060326 ICD10:Q05.6 NCIT:C101201 HP:0002475 ICD10:Q05.7 ICD10:Q05.1 ICD10:Q05.3 ICD10:Q05 EFO:1001369 ICD10:Q05.0 ICD10:Q05.9 ICD10:Q05.2 ICD10:Q05.5 Orphanet:93969 MESH:D008591 SCTID:203994003 ICD10:Q05.8 GARD:0003475 SCTID:414667000 ICD10:Q05.4" +MONDO:0017923 "Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints." "DOID:0050794 UMLS:C0342282 OMIMPS:186500 OMIM:186500 UMLS:CN204052 Orphanet:3237 OMIM:612961 OMIM:610017 ICD10CM:Q78.8" +MONDO:0019773 "Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect." "ICD10CM:Q05.2 EFO:1001369 SCTID:414667000 HP:0002475 ICD10CM:Q05.8 ICD10CM:Q05.6 GARD:0003475 Orphanet:93969 SCTID:203994003 ICD10CM:Q05.0 NCIT:C101201 MESH:D008591 DOID:0060326 ICD10CM:Q05.5 ICD10CM:Q05.3 ICD10CM:Q05.9 ICD10CM:Q05.7 ICD10CM:Q05.4 ICD10CM:Q05.1" GO:1900073 "Any process that modulates the frequency, rate or extent of neuromuscular synaptic transmission." MONDO:0056815 "A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells." "UMLS:C3898586 NCIT:C118630" MONDO:0100088 @@ -16445,47 +16437,47 @@ CL:1001596 "Glandular cell of salivary gland. Example: Serous cells, mucous cell http://identifiers.org/hgnc/39433 MONDO:0001651 "A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement." "DOID:13159 UMLS:C0349551 SCTID:276860003 NCIT:C4643" http://identifiers.org/hgnc/2295 -MONDO:0014267 "Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present." "Orphanet:397787 UMLS:C3810043 ICD10:D81.2 OMIM:615592" +MONDO:0014267 "Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present." "Orphanet:397787 UMLS:C3810043 OMIM:615592 ICD10CM:D81.2" MONDO:0024545 "Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene." "UMLS:C1850808 GARD:0009676 Orphanet:45448 DOID:0070199 OMIM:254130" CHEBI:83821 "Any derivative of an amino acid resulting from reaction at an amino group, carboxy group, side-chain functional group, or from the replacement of any hydrogen by a heteroatom. The definition normally excludes peptides containing amino acid residues." -MONDO:0018020 "Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity." "MESH:D008630 Orphanet:330021 ICD10:T56.1 GARD:0007021 ICD9:985.0 EFO:1001810 SCTID:85180002" +MONDO:0018020 "Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity." "MESH:D008630 Orphanet:330021 GARD:0007021 ICD9:985.0 EFO:1001810 SCTID:85180002" CHR:9606-chr8p2 MONDO:0010688 "A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life." "DOID:0070159 MESH:C564090 OMIM:310470 UMLS:C1839602" CL:0002016 "A polychromatiic erythroblast that is Gly-A-positive and CD71-low." http://identifiers.org/hgnc/1097 GO:0032413 "Any process that stops or reduces the activity of an ion transporter." -MONDO:0019763 "Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage." "UMLS:CN206698 ICD10:Q32.1 Orphanet:93940 OMIM:215800" +MONDO:0019763 "Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage." "UMLS:CN206698 Orphanet:93940 ICD10CM:Q32.1 OMIM:215800" http://identifiers.org/hgnc/21350 MONDO:0030927 "OMIM:619178" MONDO:0002804 "A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma." "ICDO:8401/0 NCIT:C4168 SCTID:307596009 DOID:3895 UMLS:C0334345" HP:0007550 "UMLS:C4021831" -MONDO:0018071 "Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations." "NCIT:C36626 ICD10:Q91.3 MESH:C580500 MedDRA:10053884 Orphanet:3380 UMLS:C0152096 ICD10:Q91.2 SCTID:51500006 GARD:0006321 ICD9:758.2 DOID:1085 ICD10:Q91.1 ICD10:Q91.0" +MONDO:0018071 "Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations." "NCIT:C36626 ICD10CM:Q91.1 ICD10CM:Q91.2 MESH:C580500 MedDRA:10053884 Orphanet:3380 UMLS:C0152096 ICD10CM:Q91.0 SCTID:51500006 GARD:0006321 ICD9:758.2 DOID:1085 ICD10CM:Q91.3" http://identifiers.org/hgnc/11740 GO:0005979 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen." ECTO:0000439 "An exposure to formaldehyde." CHR:9606-chr8q24.3 -MONDO:0012602 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene." "OMIM:611022 MESH:C567027 UMLS:C1970239 ICD10:H90.3 DOID:0110482" +MONDO:0012602 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene." "OMIM:611022 MESH:C567027 UMLS:C1970239 DOID:0110482" CHR:9606-chr8p1 MONDO:0004034 "A lymphoma that involves the eye." "DOID:6903 NCIT:C35690 UMLS:C1333519" MONDO:0015984 "OBSOLETE. Rare genetic immune system disease." "UMLS:CN200582 Orphanet:183770" -MONDO:0015821 "Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course." "ICD10:C84.0 UMLS:CN226743 Orphanet:178566" -MONDO:0015281 "Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." "ICD10:I45.5 UMLS:CN199216 ICD9:426.6 Orphanet:1344 OMIM:108770 SCTID:450919004 OMIM:615745" +MONDO:0015821 "Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course." "UMLS:CN226743 ICD10CM:C84.0 Orphanet:178566" +MONDO:0015281 "Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves." "UMLS:CN199216 ICD10CM:I45.5 ICD9:426.6 Orphanet:1344 OMIM:108770 SCTID:450919004 OMIM:615745" MONDO:0008152 "Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." "Orphanet:2774 DOID:0111534 GARD:0003818 GARD:0013042 UMLS:C2674705 OMIM:166300 MESH:C567171 SCTID:766992008" http://identifiers.org/hgnc/10542 CHEBI:33676 "A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element." CARO:0000006 -MONDO:0005649 "Acute inflammation of the vermiform appendix." "ICD9:540-543.99 NCIT:C35145 SCTID:74400008 UMLS:C0003615 ICD10:K37 EFO:0007149 ICD9:541 DOID:8337 MESH:D001064" -MONDO:0009176 "Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." "OMIM:305350 ICD9:078.19 OMIM:226400 ICD10:B07 SCTID:19138001 NCIT:C126877 OMIMPS:226400 UMLS:C0014522 MedDRA:10052339 Orphanet:302 ICD9:757.8 GARD:0006357 MESH:D004819 DOID:13777" +MONDO:0005649 "Acute inflammation of the vermiform appendix." "ICD9:540-543.99 NCIT:C35145 SCTID:74400008 UMLS:C0003615 EFO:0007149 DOID:8337 ICD9:541 MESH:D001064" +MONDO:0009176 "Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." "OMIM:305350 ICD9:078.19 OMIM:226400 ICD10CM:B07 SCTID:19138001 NCIT:C126877 OMIMPS:226400 UMLS:C0014522 MedDRA:10052339 Orphanet:302 ICD9:757.8 GARD:0006357 MESH:D004819 DOID:13777" UBERON:0006298 -MONDO:0012921 "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene." "UMLS:C2675864 MESH:C567284 OMIM:612522 DOID:0110759 ICD10:E10" -MONDO:0016910 "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11." "UMLS:CN035778 NCIT:C37312 GTR:AN0100479 MESH:C538296 GTR:AN0100478 GTR:AN0100480 GARD:0001735 ICD10:Q93.5 Orphanet:262092" -MONDO:0016492 "OBSOLETE. Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder." "ICD10:D58.2 Orphanet:231386" +MONDO:0012921 "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene." "UMLS:C2675864 MESH:C567284 OMIM:612522 DOID:0110759" +MONDO:0016910 "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11." "MESH:C538296 ICD10CM:Q93.5 GARD:0001735 GTR:AN0100478 GTR:AN0100479 UMLS:CN035778 GTR:AN0100480 Orphanet:262092 NCIT:C37312" +MONDO:0016492 "OBSOLETE. Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder." "Orphanet:231386 ICD10CM:D58.2" MONDO:0030928 "OMIM:619179" -MONDO:0009018 "Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." "SCTID:419074008 OMIM:217600 ICD10:H18.5 UMLS:C1622427 Orphanet:98972 MESH:C563262" +MONDO:0009018 "Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." "SCTID:419074008 OMIM:217600 ICD10CM:H18.5 UMLS:C1622427 Orphanet:98972 MESH:C563262" MONDO:0018057 -MONDO:0001984 "A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury." "UMLS:C1282977 ICD9:112.3 DOID:14512 SCTID:187014000 ICD10:B37.2 UMLS:C0006842" +MONDO:0001984 "A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury." "UMLS:C1282977 ICD9:112.3 DOID:14512 SCTID:187014000 UMLS:C0006842" MONDO:0002130 "A disease affecting a single peripheral nerve of the upper limb." "ICD9:354.9 DOID:1844" -MONDO:0004828 "A urolithiasis that involves the lower urinary tract." "ICD9:594.8 ICD10:N21 DOID:9590 ICD9:594 SCTID:79509009 ICD9:594.9 ICD10:N21.9 UMLS:C0156264" +MONDO:0004828 "A urolithiasis that involves the lower urinary tract." "ICD9:594.8 DOID:9590 ICD9:594 ICD10CM:N21 SCTID:79509009 ICD9:594.9 ICD10CM:N21.9 UMLS:C0156264" UBERON:0009632 UBERON:0007237 ENVO:01001308 "A geographic feature which is primarily composed of a continuous volume of liquid water held in shape or sustained by an environmental process." @@ -16495,16 +16487,16 @@ MONDO:0030925 "OMIM:619176" MONDO:0017958 "GARD:0013371 Orphanet:324972 UMLS:CN204105" GO:0045839 "Any process that stops, prevents or reduces the rate or extent of mitosis. Mitosis is the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother." MONDO:0013989 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene." "DOID:0080439 OMIM:614959 UMLS:C3554195 Orphanet:293181" -MONDO:0019254 "Orphanet:79224 DOID:653 ICD10:E79.1 MedDRA:10037546 MESH:D011686 ICD9:277.2 ICD10:E79.8 UMLS:C0034139 ICD10:E79.9 ICD10:E79.0" +MONDO:0019254 "Orphanet:79224 DOID:653 ICD10CM:E79.9 MedDRA:10037546 ICD10CM:E79.1 ICD9:277.2 MESH:D011686 ICD10CM:E79.8 ICD10CM:E79.0 UMLS:C0034139" UBERON:0008434 MONDO:0003609 "A rare benign cystadenoma that arises from the seminal vesicle." "UMLS:C1519234 NCIT:C39907 DOID:5724" -MONDO:0004678 "A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area." "ICD9:110.9 ICD9:110 NCIT:C26745 DOID:8913 SCTID:47382004 UMLS:C0011636 ICD9:110.8 ICD10:B35.9 ICD10:B35" +MONDO:0004678 "A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area." "ICD9:110.9 ICD9:110 DOID:8913 NCIT:C26745 ICD10CM:B35 SCTID:47382004 UMLS:C0011636 ICD9:110.8" HP:0002354 "An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness." "UMLS:C0751295 UMLS:C0542476 UMLS:C0233794 MSH:D008569 SNOMEDCT_US:55533009 SNOMEDCT_US:386807006" FOODON:03411301 "An informal term for a large, diverse group of photosynthetic eukaryotic organisms that are not necessarily closely related, and is thus polyphyletic."@en MONDO:0010892 UBERON:0003539 MONDO:0021638 "A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II)." "UMLS:C3898569 NCIT:C116342" -MONDO:0008340 "Congenital ptosis is characterized by superior eyelid drop present at birth." "HP:0007970 MedDRA:10015996 SCTID:268163008 NCIT:C27049 MESH:C566737 Orphanet:91411 OMIM:178300 DOID:0060261 OMIM:616219 ICD10:Q10.0 ICD9:743.61 OMIM:300245" +MONDO:0008340 "Congenital ptosis is characterized by superior eyelid drop present at birth." "HP:0007970 MedDRA:10015996 SCTID:268163008 NCIT:C27049 MESH:C566737 Orphanet:91411 OMIM:178300 DOID:0060261 OMIM:616219 ICD9:743.61 OMIM:300245" UBERON:0009633 MONDO:0033683 "Orphanet:508542" MONDO:0008086 "An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1." "GARD:0004798 OMIM:162400 DOID:0070152 Orphanet:36386" @@ -16530,34 +16522,34 @@ UBERON:0004736 UBERON:0003538 http://identifiers.org/hgnc/3495 GO:0042701 "The regulated release of progesterone, a steroid hormone, by the corpus luteum of the ovary and by the placenta." -MONDO:0013460 "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene." "UMLS:C3151433 OMIM:613849 Orphanet:216820 ICD10:Q78.0 DOID:0110348" +MONDO:0013460 "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene." "UMLS:C3151433 ICD10CM:Q78.0 OMIM:613849 Orphanet:216820 DOID:0110348" UBERON:0009630 MONDO:0020015 "OBSOLETE. A rare form of cardiovascular disease." "UMLS:CN206948 Orphanet:98028" GO:0007286 "The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure." -MONDO:0016032 "Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." "SCTID:93255008 GARD:0001503 Orphanet:1987 ICD10:Q72.4 ICD9:755.34" +MONDO:0016032 "Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." "SCTID:93255008 GARD:0001503 Orphanet:1987 ICD9:755.34" PATO:0001985 "A quality inhering in a bearer by virtue of the bearer's being kept below its freezing point." http://identifiers.org/hgnc/2033 MONDO:0012190 "UMLS:C1836823 MESH:C563798 Orphanet:300333 OMIM:609057" GO:0003333 "The process in which an amino acid is transported across a membrane." MONDO:0003812 "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." "UMLS:C1518231 DOID:6212 NCIT:C40051" -MONDO:0010592 "Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems." "DOID:2120 NCIT:C84715 ICD9:757.39 ICD10:Q82.8 SCTID:205573006 UMLS:C0016395 MESH:D005489 Orphanet:2092 OMIM:305600 GARD:0006457" +MONDO:0010592 "Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems." "DOID:2120 NCIT:C84715 ICD9:757.39 SCTID:205573006 ICD10CM:Q82.8 UMLS:C0016395 MESH:D005489 Orphanet:2092 OMIM:305600 GARD:0006457" CARO:0000000 CHR:9606-chr16p13.2 -MONDO:0019187 "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." "ICD10:Q13.81 MESH:C535679 ICD10:Q13.8 NCIT:C131001 ICD9:743.44 UMLS:CN776842 OMIM:601499 Orphanet:782 OMIM:602482 OMIMPS:180500 MedDRA:10059255 GARD:0005701 OMIM:180500 UMLS:C3495488 DOID:14686 SCTID:47507006" +MONDO:0019187 "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." "MESH:C535679 NCIT:C131001 ICD10CM:Q13.8 ICD9:743.44 UMLS:CN776842 OMIM:601499 Orphanet:782 OMIM:602482 OMIMPS:180500 MedDRA:10059255 GARD:0005701 OMIM:180500 UMLS:C3495488 DOID:14686 SCTID:47507006" MONDO:0005780 "Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome." "EFO:0007295 MESH:D018778 UMLS:C0242994 ICD9:079.81 NCIT:C3899 SCTID:359761005" MONDO:0030089 "OMIM:618858" GO:0046545 "The process whose specific outcome is the progression of the primary female sexual characteristics over time, from their formation to the mature structure. The primary female sexual characteristics are the ovaries, and they develop in response to sex hormone secretion." MONDO:0030923 "OMIMPS:105500" http://identifiers.org/hgnc/10547 -MONDO:0012510 "Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined." "Orphanet:254920 UMLS:C1864843 MESH:C566468 OMIM:610498 DOID:0111483 ICD10:E88.8 SCTID:764943000" +MONDO:0012510 "Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined." "ICD10CM:E88.8 Orphanet:254920 UMLS:C1864843 MESH:C566468 OMIM:610498 DOID:0111483 SCTID:764943000" MONDO:0017956 "UMLS:CN204102 Orphanet:324933" CHR:9606-chr1p35.2 UBERON:0008432 MONDO:0005182 "A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well." "EFO:0002510 DOID:7320" -MONDO:0016033 "A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes." "OMIM:300590 OMIM:122470 NCIT:C75016 GARD:0010109 OMIMPS:122470 Orphanet:199 MedDRA:10056354 SCTID:40354009 UMLS:CN239271 OMIM:610759 UMLS:C0270972 OMIM:300882 ICD10:Q87.1 DOID:11725 OMIM:614701" +MONDO:0016033 "A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes." "OMIM:300590 OMIM:122470 NCIT:C75016 GARD:0010109 OMIMPS:122470 Orphanet:199 MedDRA:10056354 SCTID:40354009 UMLS:CN239271 OMIM:610759 UMLS:C0270972 OMIM:300882 ICD10CM:Q87.1 DOID:11725 OMIM:614701" MONDO:0001631 "A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction." "UMLS:C0042560 SCTID:34781003 DOID:13095 ICD9:435.1 MESH:D014715 NCIT:C35123" MONDO:0005247 "A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." "SCTID:68566005 EFO:0003103 NCIT:C50791 ICD9:599.0" -MONDO:0010664 "Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." "MESH:C536678 DOID:0060802 UMLS:C0796160 OMIM:309583 ICD9:758.89 SCTID:702416008 Orphanet:3063 ICD10:Q87.8 GARD:0005615" +MONDO:0010664 "Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." "MESH:C536678 DOID:0060802 UMLS:C0796160 OMIM:309583 ICD9:758.89 ICD10CM:Q87.8 SCTID:702416008 Orphanet:3063 GARD:0005615" UBERON:0009631 http://identifiers.org/hgnc/2032 UBERON:0004739 @@ -16570,18 +16562,18 @@ MONDO:0030924 "OMIM:619175" http://identifiers.org/hgnc/3497 GO:1903037 "Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion." UBERON:0008433 -MONDO:0012631 "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25." "ICD10:G30 UMLS:C1970144 OMIM:611154 MESH:C566999 DOID:0110047" +MONDO:0012631 "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25." "UMLS:C1970144 OMIM:611154 ICD10CM:G30 MESH:C566999 DOID:0110047" GO:0098644 "A complex of collagen trimers such as a fibril or collagen network." MONDO:0010893 "MESH:C535697 Orphanet:423 GARD:0003366 OMIM:600467" UBERON:0006293 GO:0051276 "A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome." CL:0000173 "A D cell located in the pancreas. Peripherally placed within the islets like type A cells; contains somatostatin." "FMA:70587 BTO:0000803" UBERON:0003534 -MONDO:0020540 "A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." "Orphanet:99914 SCTID:254867003 NCIT:C3072 UMLS:C0346178 ICDO:8632/1 UMLS:C0018413 ICD10:D40.1 EFO:1000422 GARD:0009665 ICD10:D39.1" +MONDO:0020540 "A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both." "Orphanet:99914 SCTID:254867003 NCIT:C3072 ICD10CM:D39.1 UMLS:C0346178 ICDO:8632/1 UMLS:C0018413 EFO:1000422 GARD:0009665 ICD10CM:D40.1" MONDO:0003836 "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin." "DOID:6274 UMLS:C1334627 NCIT:C5965" UBERON:0002336 NCBITaxon:5654 "GC_ID:1" -MONDO:0014001 "An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1." "OMIM:614990 DOID:0110837 Orphanet:886 Orphanet:231169 ICD10:H35.5 UMLS:C3539124" +MONDO:0014001 "An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1." "OMIM:614990 DOID:0110837 Orphanet:886 Orphanet:231169 UMLS:C3539124" MONDO:0000724 "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." "OMIMPS:606711 UMLS:C0454651 OMIM:612514 OMIM:607134 OMIM:615432 OMIM:606712 OMIM:606711 DOID:0060244 Orphanet:458713" UBERON:0005096 http://identifiers.org/hgnc/7190 @@ -16599,14 +16591,14 @@ ECTO:9001975 "An exposure to antimicrobial food preservative." UBERON:0001138 MONDO:0004740 MONDO:0004322 "A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma." "NCIT:C39991 DOID:7665 UMLS:C1518355" -MONDO:0008621 "Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." "OMIM:617251 MESH:C536939 Orphanet:1410 GARD:0005404 ICD10:Q84.1 OMIM:617252 OMIM:191480 UMLS:C0432347 SCTID:254230001" -MONDO:0019955 "6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1)." "UMLS:CN206877 ICD10:E16.8 Orphanet:97261" +MONDO:0008621 "Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." "OMIM:617251 MESH:C536939 Orphanet:1410 GARD:0005404 OMIM:617252 OMIM:191480 ICD10CM:Q84.1 UMLS:C0432347 SCTID:254230001" +MONDO:0019955 "6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1)." "UMLS:CN206877 ICD10CM:E16.8 Orphanet:97261" HP:0000926 "A flattened vertebral body shape with reduced distance between the vertebral endplates." "UMLS:C1844704" UBERON:0006292 UBERON:0003533 MONDO:0014617 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene." "UMLS:C4225343 OMIM:616393 DOID:0070068" CHEBI:25703 -MONDO:0014327 "UMLS:C3810394 ICD10:Q82.8 OMIM:615735 Orphanet:402003" +MONDO:0014327 "UMLS:C3810394 ICD10CM:Q82.8 OMIM:615735 Orphanet:402003" GO:0003330 "Any process that modulates the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells." MONDO:0036501 "A malignant neoplasm that does not respond to treatment." "UMLS:C0677936 NCIT:C120186" NCBITaxon:10368 "GC_ID:1" @@ -16623,14 +16615,14 @@ UBERON:0004998 MONDO:0100041 "A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine." MONDO:0006953 "The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia." "MedDRA:10039016 SCTID:44795003 UMLS:C0035404 EFO:1001159 DOID:4175 NCIT:C113150" MONDO:0018174 "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities." "MESH:C580055 Orphanet:359 GARD:0002486 UMLS:CN227278" -MONDO:0016227 "Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2." "ICD10:G11.8 SCTID:421455009 UMLS:C1720189 EFO:1000638 GARD:0009851 OMIMPS:160120 DOID:963 Orphanet:211062" +MONDO:0016227 "Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2." "SCTID:421455009 UMLS:C1720189 EFO:1000638 ICD10CM:G11.8 GARD:0009851 OMIMPS:160120 DOID:963 Orphanet:211062" UBERON:0001137 -MONDO:0019211 "Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern." "OMIM:206800 OMIM:614149 Orphanet:79143 ICD10:Q84.3 OMIM:107000 GARD:0012930" +MONDO:0019211 "Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern." "OMIM:206800 OMIM:614149 Orphanet:79143 OMIM:107000 GARD:0012930" HP:0001004 "Localized fluid retention and tissue swelling caused by a compromised lymphatic system." "UMLS:C0024236 UMLS:C1835229 SNOMEDCT_US:234097001 SNOMEDCT_US:30213001 MSH:D008209 UMLS:C0240278" UBERON:0007490 CHR:9606-chr17q UBERON:0006291 -MONDO:0015316 "Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months." "GARD:0012713 UMLS:C0396058 ICD10:J38.0 Orphanet:137932" +MONDO:0015316 "Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months." "GARD:0012713 ICD10CM:J38.0 UMLS:C0396058 Orphanet:137932" MONDO:0001429 "Arthropathy that is not permanent." "SCTID:66191007 ICD9:716.48 ICD9:716.41 ICD9:716.40 UMLS:C0152083 DOID:12084 NCIT:C35761" MONDO:0015957 "OBSOLETE. Rare genetic movement disorder." "Orphanet:183521 UMLS:CN226803" UBERON:0003536 @@ -16640,15 +16632,15 @@ MONDO:0033682 "Orphanet:508533" GO:0001553 "The set of processes resulting in differentiation of theca and granulosa cells into luteal cells and in the formation of a corpus luteum after ovulation." MONDO:0022645 "GARD:0010673" MONDO:0021448 -MONDO:0012173 "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." "GARD:0006867 OMIM:609016 UMLS:CN074230 UMLS:C3711645 SCTID:726021008 Orphanet:5 ICD10:E71.3 NCIT:C129929 UMLS:CN239369" +MONDO:0012173 "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." "GARD:0006867 OMIM:609016 UMLS:CN074230 UMLS:C3711645 SCTID:726021008 Orphanet:5 ICD10CM:E71.3 NCIT:C129929 UMLS:CN239369" GO:0014848 "A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary tract. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary tract consists of organs of the body that produce and discharge urine. These include the kidneys, ureters, bladder, and urethra." GO:1903960 "Any process that stops, prevents or reduces the frequency, rate or extent of anion transmembrane transport." -MONDO:0009159 "Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency." "MESH:C536200 SCTID:720858001 Orphanet:230851 OMIM:225320 GARD:0012613 ICD10:Q79.6" +MONDO:0009159 "Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency." "MESH:C536200 ICD10CM:Q79.6 SCTID:720858001 Orphanet:230851 OMIM:225320 GARD:0012613" UBERON:0004733 UBERON:0004999 UBERON:0002339 GO:0043254 "Any process that modulates the frequency, rate or extent of protein complex assembly." -MONDO:0009614 "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial." "NCIT:C142172 GARD:0009479 OMIM:251110 ICD10:E71.1 Orphanet:79311 UMLS:C1855102 Orphanet:28 DOID:0060743" +MONDO:0009614 "An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial." "NCIT:C142172 ICD10CM:E71.1 GARD:0009479 OMIM:251110 Orphanet:79311 UMLS:C1855102 Orphanet:28 DOID:0060743" CL:0002187 "A basally situated, mitotically active, columnar-shaped keratinocyte attached to the basement membrane." "FMA:70571" MONDO:0001151 "A condition of mild to moderate high blood pressure that has no identifiable cause." "NCIT:C3656 ICD9:401.1 DOID:10913 UMLS:C0155583 SCTID:1201005" MONDO:0001145 "UMLS:C0271371 MESH:D015840 DOID:10866 SCTID:194119004 ICD9:378.52" @@ -16659,22 +16651,22 @@ MONDO:0006360 "A carcinoma that arises from epithelial cells of the penis" "EFO: CL:1001588 "Glandular cell of colon epithelium. Example: Goblet cells; enterocytes or absorptive cells; enteroendocrine and M cells." "CALOHA:TS-1274" HsapDv:0000099 "Child stage that refers to a child who is over 5 and under 6 years old." UBERON:0002337 -MONDO:0003542 "DOID:5608 ICD10:K04.2 UMLS:C0011401 SCTID:57602001 MESH:D003784" +MONDO:0003542 "DOID:5608 UMLS:C0011401 SCTID:57602001 ICD10CM:K04.2 MESH:D003784" MONDO:0022644 "GARD:0000199" MONDO:0013048 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene." "DOID:0110802 MESH:C567858 Orphanet:280763 UMLS:C2752008 OMIM:612936" GO:0001649 "The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone." MONDO:0002344 -MONDO:0019621 "Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD)." "UMLS:CN206472 Orphanet:91359 SCTID:708026002 UMLS:C3872848 ICD10:J84.0" +MONDO:0019621 "Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD)." "UMLS:CN206472 Orphanet:91359 SCTID:708026002 ICD10CM:J84.0 UMLS:C3872848" UBERON:0004734 CL:0002067 "An enteroendocrine cell that produces glucagon." "FMA:62939" GO:0006508 "The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds." MONDO:0030920 "EFO:0009164 DOID:0080230 Orphanet:178469 OMIM:617799" -MONDO:0007412 "Cutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." "GARD:0000332 ICD10:Q87.8 OMIM:123790 UMLS:C1852406 SCTID:703528008 Orphanet:1555 NCIT:C123813 DOID:0050660 MESH:C565129 ICD9:759.89" -MONDO:0015454 "Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." "UMLS:C0026755 ICD10:D81.819 MedDRA:10028176 DOID:857 Orphanet:148 MESH:D009100 ICD10:D81.81 ICD10:E53.8 GARD:0003824" +MONDO:0007412 "Cutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." "GARD:0000332 ICD10CM:Q87.8 OMIM:123790 UMLS:C1852406 SCTID:703528008 Orphanet:1555 NCIT:C123813 DOID:0050660 MESH:C565129 ICD9:759.89" +MONDO:0015454 "Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay." "UMLS:C0026755 MedDRA:10028176 DOID:857 Orphanet:148 ICD10CM:D81.819 MESH:D009100 ICD10CM:E53.8 GARD:0003824" UBERON:0003530 -MONDO:0020248 "GARD:0005506 HP:0007964 Orphanet:98670 SCTID:247182006 UMLS:C0344290 ICD10:H35.5" +MONDO:0020248 "GARD:0005506 HP:0007964 Orphanet:98670 SCTID:247182006 ICD10CM:H35.5 UMLS:C0344290" MONDO:0100401 "Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)" "NCIT:C168769" -MONDO:0015358 "A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)" "ICD10:G60.0 SCTID:398100001 GARD:0012685 MESH:D015417 Orphanet:140450" +MONDO:0015358 "A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)" "SCTID:398100001 GARD:0012685 MESH:D015417 Orphanet:140450" NCBITaxon:186804 "GC_ID:11" MONDO:0017408 "A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin." "UMLS:C4053506 Orphanet:293987 GARD:0010407 UMLS:CN203158 NCIT:C121944" GO:1903489 "Any process that activates or increases the frequency, rate or extent of lactation." @@ -16686,65 +16678,65 @@ UBERON:0005092 GO:0005967 "Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA in eukaryotes; includes subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). The This Eukaryotic form usually contains more subunits than its bacterial counterpart; for example, one known complex contains 30 E1 dimers, 60 E2 monomers, and 6 E3 dimers as well as a few copies of pyruvate dehydrogenase kinase and pyruvate dehydrogenase phosphatase." HP:0002024 "Impaired ability to absorb one or more nutrients from the intestine." "UMLS:C3714745" HP:0010307 "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway." "UMLS:C0237304 SNOMEDCT_US:248573009 UMLS:C0038450 MSH:D012135 SNOMEDCT_US:70407001" -MONDO:0010983 "A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34." "Orphanet:53583 SCTID:715564000 MESH:C563401 ICD10:G24.8 OMIM:601042 UMLS:C1832855 DOID:0090044" +MONDO:0010983 "A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34." "Orphanet:53583 SCTID:715564000 ICD10CM:G24.8 MESH:C563401 OMIM:601042 UMLS:C1832855 DOID:0090044" UBERON:0001134 UBERON:0006297 MONDO:0020249 "MedDRA:10061323 Orphanet:98671" UBERON:0009891 -MONDO:0008558 "An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin." "ICD9:287.31 ICD10:D69.3 EFO:0007160 OMIM:188030 Orphanet:3002 NCIT:C3446 MedDRA:10021245 DOID:8924 GARD:0005194" -MONDO:0015265 "Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction." "DOID:2799 SCTID:40100001 UMLS:CN199179 GARD:0009551 ICD9:466.19 ICD9:491.8 HP:0011946 NCIT:C62580 Orphanet:1303 EFO:0007183 ICD10:J44.8" -MONDO:0016790 "An acquired metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle." "UMLS:CN227000 ICD10:E88.8 Orphanet:254749" -MONDO:0003540 "CSP:2004-1600 UMLS:C0023493 SCTID:110007008 SCTID:277575008 NCIT:C3184 ICD10:C91.50 ICD10:C91.5 DOID:5603 CSP:2004-1803" -MONDO:0019796 "Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." "OMIM:101600 EFO:0004123 Orphanet:946 GARD:0000486 MedDRA:10000590 OMIM:101200 OMIM:101120 SCTID:268262006 ICD10:Q87.0 ICD9:755.55 DOID:12960 MESH:D000168 OMIM:101400 NCIT:C34348" +MONDO:0008558 "An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin." "ICD9:287.31 EFO:0007160 OMIM:188030 ICD10CM:D69.3 Orphanet:3002 NCIT:C3446 MedDRA:10021245 DOID:8924 GARD:0005194" +MONDO:0015265 "Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction." "DOID:2799 SCTID:40100001 UMLS:CN199179 GARD:0009551 ICD9:466.19 ICD9:491.8 HP:0011946 NCIT:C62580 Orphanet:1303 EFO:0007183" +MONDO:0016790 "An acquired metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle." "UMLS:CN227000 ICD10CM:E88.8 Orphanet:254749" +MONDO:0003540 "CSP:2004-1600 UMLS:C0023493 SCTID:110007008 SCTID:277575008 NCIT:C3184 DOID:5603 CSP:2004-1803" +MONDO:0019796 "Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations." "OMIM:101600 EFO:0004123 Orphanet:946 GARD:0000486 MedDRA:10000590 OMIM:101200 OMIM:101120 SCTID:268262006 ICD9:755.55 DOID:12960 MESH:D000168 OMIM:101400 ICD10CM:Q87.0 NCIT:C34348" MONDO:0000769 "An egg allergy triggered by Gallus gallus eggs." "DOID:0060492" -MONDO:0001143 "UMLS:C0152221 ICD10:H49 HP:0031775 DOID:10863 SCTID:400942002 ICD9:378.5 ICD10:H49.9 ICD9:378.50" +MONDO:0001143 "UMLS:C0152221 HP:0031775 DOID:10863 SCTID:400942002 ICD9:378.5 ICD9:378.50" http://identifiers.org/hgnc/30832 UBERON:0002331 HP:0002240 "Abnormally increased size of the liver." "MSH:D006529 SNOMEDCT_US:80515008 UMLS:C0019209" NCBITaxon:1262365 "GC_ID:1" UBERON:0004994 MONDO:0005827 "A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism." "NCIT:C34537 DOID:11712 MESH:D003923 EFO:0007346 SCTID:127012008" -MONDO:0003529 "Sudden onset pyelonephritis." "NCIT:C123215 ICD10:N10 SCTID:36689008 DOID:559 ICD9:590.1 UMLS:C0520575" +MONDO:0003529 "Sudden onset pyelonephritis." "NCIT:C123215 ICD10CM:N10 SCTID:36689008 DOID:559 ICD9:590.1 UMLS:C0520575" GO:0002674 "Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response." -MONDO:0007188 "Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction." "OMIM:109500 Orphanet:2285 UMLS:C1862299 GARD:0001037 MESH:C566226 ICD10:Q75.8" -MONDO:0017640 "Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum." "Orphanet:306692 ICD10:G21.2 UMLS:CN203536 SCTID:766872002" +MONDO:0007188 "Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction." "OMIM:109500 Orphanet:2285 UMLS:C1862299 GARD:0001037 MESH:C566226 ICD10CM:Q75.8" +MONDO:0017640 "Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum." "Orphanet:306692 ICD10CM:G21.2 UMLS:CN203536 SCTID:766872002" UBERON:0019206 http://identifiers.org/hgnc/10540 UBERON:0001133 -MONDO:0013595 "Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported." "UMLS:C3279964 Orphanet:276405 ICD10:K76.8 OMIM:614156" +MONDO:0013595 "Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported." "ICD10CM:K76.8 UMLS:C3279964 Orphanet:276405 OMIM:614156" MONDO:0600019 "Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene." UBERON:0003532 NCBITaxon:186802 "GC_ID:11 PMID:24480908 PMID:16558750" CHEBI:33256 "A derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group." -MONDO:0015169 "This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency." "SCTID:716277000 ICD10:E74.3 UMLS:C4275068 Orphanet:103907" +MONDO:0015169 "This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency." "SCTID:716277000 ICD10CM:E74.3 UMLS:C4275068 Orphanet:103907" GO:1903012 "Any process that activates or increases the frequency, rate or extent of bone development." FOODON:03411059 "Shellfish is a food source and fisheries term for exoskeleton-bearing aquatic invertebrates used as food, including various species of molluscs, crustaceans, and echinoderms. Although most kinds of shellfish are harvested from saltwater environments, some kinds are found in freshwater. In addition, a few species of land crabs are eaten, for example *Cardisoma guanhumi* in the Caribbean. [https://en.wikipedia.org/wiki/Shellfish]"@en UBERON:0002334 -MONDO:0008395 "Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay." "Orphanet:3121 SCTID:3073006 GARD:0004748 MESH:C579395 ICD10:Q87.8 ICD9:759.89 UMLS:C0265248 OMIM:180870" -MONDO:0015997 "Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive." "ICD10:Q15.8 MESH:C536124 SCTID:722437006 GARD:0003999 Orphanet:1884" -MONDO:0010651 "Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." "OMIM:309400 GARD:0001521 SCTID:59178007 MedDRA:10027294 NCIT:C75486 MESH:D007706 DOID:1838 UMLS:C0022716 ICD10:E83.0 Orphanet:565 ICD9:759.89" +MONDO:0008395 "Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay." "Orphanet:3121 SCTID:3073006 GARD:0004748 MESH:C579395 ICD10CM:Q87.8 ICD9:759.89 UMLS:C0265248 OMIM:180870" +MONDO:0015997 "Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive." "MESH:C536124 SCTID:722437006 ICD10CM:Q15.8 GARD:0003999 Orphanet:1884" +MONDO:0010651 "Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." "OMIM:309400 GARD:0001521 SCTID:59178007 MedDRA:10027294 ICD10CM:E83.0 NCIT:C75486 MESH:D007706 DOID:1838 UMLS:C0022716 Orphanet:565 ICD9:759.89" MONDO:0010072 "Autosomal recessive form of spondyloepiphyseal dysplasia tarda." "MESH:C564797 UMLS:C1849054 OMIM:271600 Orphanet:93284" -MONDO:0015165 "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement." "ICD10:C92.0 UMLS:CN197505 Orphanet:102381" +MONDO:0015165 "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement." "UMLS:CN197505 Orphanet:102381 ICD10CM:C92.0" UBERON:0004995 MONDO:0100141 "OBSOLETE. A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level." CL:1000454 "An epithelial cell that is part of the collecting duct of renal tubule." "FMA:70982 KUPO:0001059" UBERON:0001136 UBERON:0019207 -MONDO:0000754 "A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess." "DOID:0060328 MESH:D012003 HP:0010447 SCTID:72779005 Orphanet:228113 ICD10:K60.3 NCIT:C60785" +MONDO:0000754 "A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess." "DOID:0060328 MESH:D012003 HP:0010447 SCTID:72779005 Orphanet:228113 NCIT:C60785 ICD10CM:K60.3" MONDO:0013522 "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12." "Orphanet:1775 UMLS:C3151445 Orphanet:3322 DOID:0070018 OMIM:613990" NCBITaxon:6854 "GC_ID:1" -MONDO:0016344 "A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor." "ICD10:Q04.3 NCIT:C98949 DOID:4626 UMLS:C0020225 HP:0002324 Orphanet:2177 MESH:D006832 GARD:0006681 SCTID:30023002" +MONDO:0016344 "A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor." "ICD10CM:Q04.3 NCIT:C98949 DOID:4626 UMLS:C0020225 HP:0002324 Orphanet:2177 MESH:D006832 GARD:0006681 SCTID:30023002" UBERON:0003531 -MONDO:0004835 "Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue." "ICD9:728.86 ICD10:M72.6 UMLS:C0238124 SCTID:52486002 GARD:0006454 DOID:9602 MESH:D019115 NCIT:C84916" +MONDO:0004835 "Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue." "ICD9:728.86 ICD10CM:M72.6 UMLS:C0238124 SCTID:52486002 GARD:0006454 DOID:9602 MESH:D019115 NCIT:C84916" NCBITaxon:186801 "PMID:31076745 PMID:26410691 GC_ID:11" -MONDO:0017876 "Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations." "UMLS:C0042470 DOID:0050196 SCTID:359673001 ICD10:A96.8 Orphanet:319234" -MONDO:0017860 "Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure)." "Orphanet:31825 UMLS:CN203895 ICD10:T51.1" +MONDO:0017876 "Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations." "UMLS:C0042470 DOID:0050196 SCTID:359673001 ICD10CM:A96.8 Orphanet:319234" +MONDO:0017860 "Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure)." "Orphanet:31825 UMLS:CN203895" MONDO:0044638 "A squamous cell carcinoma that involves the hypopharynx." "Orphanet:494547 ONCOTREE:HPHSC NCIT:C4043 EFO:1001960" -MONDO:0001670 "Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)" "DOID:13240 ICD10:K03.3 SCTID:70931000 MESH:D014091 ICD9:521.4 UMLS:C0040451" -MONDO:0016854 "49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person." "Orphanet:261534 ICD10:Q98.8 UMLS:CN202197 GARD:0010922" +MONDO:0001670 "Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)" "DOID:13240 SCTID:70931000 MESH:D014091 ICD9:521.4 UMLS:C0040451" +MONDO:0016854 "49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person." "Orphanet:261534 UMLS:CN202197 GARD:0010922 ICD10CM:Q98.8" UBERON:0002333 UBERON:0005095 -MONDO:0019920 "Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." "Orphanet:96190 ICD10:Q99.8" +MONDO:0019920 "Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." "ICD10CM:Q99.8 Orphanet:96190" GO:1903431 "Any process that activates or increases the frequency, rate or extent of cell maturation." UBERON:0004996 CHEBI:33579 "A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table." @@ -16753,12 +16745,12 @@ MONDO:0012483 "Any cone-rod dystrophy in which the cause of the disease is a mut UBERON:0001135 MONDO:0002340 "NCIT:C4687 UMLS:C0393724 SCTID:230449001 DOID:2550" MONDO:0000680 "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight." "HP:0010527 DOID:0060150" -MONDO:0017905 "X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males." "OMIM:300636 UMLS:C4304413 Orphanet:319605 ICD10:D84.8 UMLS:CN203967 OMIM:300645 SCTID:719814009" +MONDO:0017905 "X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males." "OMIM:300636 UMLS:C4304413 Orphanet:319605 UMLS:CN203967 OMIM:300645 SCTID:719814009 ICD10CM:D84.8" MONDO:0022103 "An infectious or non-infectious chronic inflammatory process that affects the prostate gland." "UMLS:C0085696 ICD9:601.1 NCIT:C26930 SCTID:19905009" MONDO:0007242 "OMIM:113960" MONDO:0020244 "Orphanet:98666" http://identifiers.org/hgnc/6833 -MONDO:0016603 "Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." "ICD10:E72.2 DOID:0070342 NCIT:C150603 OMIM:603471 Orphanet:247585 SCTID:716863007" +MONDO:0016603 "Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." "DOID:0070342 NCIT:C150603 OMIM:603471 Orphanet:247585 SCTID:716863007 ICD10CM:E72.2" CL:0000325 "A cell that is specialised to accumulate a particular substance(s)." ENVO:01000033 "The oceanic epipelagic zone biome comprises the marine water column offshore, beyond a continental shelf." CHEBI:35545 @@ -16780,7 +16772,7 @@ http://identifiers.org/hgnc/7197 MONDO:0100454 "Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." http://identifiers.org/hgnc/9594 http://identifiers.org/hgnc/4439 -MONDO:0017195 "Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures." "UMLS:C1850168 OMIM:609220 MedDRA:10063718 ICD10:M21.8 DOID:0060231 ICD9:733.99 OMIM:259450 Orphanet:2771 UMLS:C1836602 UMLS:C0432253 SCTID:254113006" +MONDO:0017195 "Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures." "UMLS:C1850168 OMIM:609220 MedDRA:10063718 DOID:0060231 ICD9:733.99 OMIM:259450 Orphanet:2771 UMLS:C1836602 ICD10CM:M21.8 UMLS:C0432253 SCTID:254113006" MONDO:0021284 "A in situ carcinoma that involves the ureter." "ICD9:233.9 NCIT:C4529 SCTID:92782006 UMLS:C0346267" HP:0011024 "An abnormality of the gastrointestinal tract." "SNOMEDCT_US:53619000 UMLS:C0012242 UMLS:C0017178 MSH:D005767 SNOMEDCT_US:25374005 MSH:D004066 SNOMEDCT_US:119292006 UMLS:C4023588" NCBITaxon:2044726 "GC_ID:1" @@ -16800,7 +16792,7 @@ MONDO:0005948 GO:0050309 "Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate." MONDO:0020246 "UMLS:C1850109 Orphanet:98668 HP:0007773" MONDO:0010629 "OMIM:308280" -MONDO:0010036 "Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene." "Orphanet:103908 ICD10:P78.3 DOID:0060781 OMIM:270420" +MONDO:0010036 "Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene." "Orphanet:103908 DOID:0060781 OMIM:270420" http://identifiers.org/hgnc/6831 CL:1000854 "KUPO:0001014" UBERON:0005090 @@ -16808,35 +16800,35 @@ MONDO:0006841 "A lymphangioma characterized by the presence of collagen bundle f MONDO:0003601 "A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum." "DOID:5713 NCIT:C6614 UMLS:C1334663" http://identifiers.org/hgnc/9591 MONDO:0015561 -MONDO:0005210 "A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma." "ONCOTREE:USARC NCIT:C6339 UMLS:C0338113 Orphanet:213620 DOID:5165 GARD:0009383 MedDRA:10039497 ICD10:C54.2 EFO:0002914 SCTID:254877001" -MONDO:0000309 "A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other." "ICD9:367.32 SCTID:16059006 MESH:D000839 DOID:0050304 EFO:1001266 ICD10:H52.32" +MONDO:0005210 "A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma." "ONCOTREE:USARC NCIT:C6339 UMLS:C0338113 ICD10CM:C54.2 Orphanet:213620 DOID:5165 GARD:0009383 MedDRA:10039497 EFO:0002914 SCTID:254877001" +MONDO:0000309 "A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other." "ICD9:367.32 SCTID:16059006 MESH:D000839 DOID:0050304 ICD10CM:H52.32 EFO:1001266" MONDO:0005016 "Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." "DOID:11503 SCTID:49455004 NCIT:C84417 MESH:D003928 SCTID:127013003 EFO:0004996 OMIM:612628 OMIM:612634 ICD9:250.4 EFO:0004997 ICD9:250.40 ICD9:583.81 EFO:0000401 DOID:12785 OMIM:612624" UBERON:0001132 UBERON:0004991 MONDO:0013122 "Orphanet:98976 UMLS:C2751316 MESH:C567765 OMIM:613086" -MONDO:0020247 "Orphanet:98669 SCTID:449866003 ICD9:743.56 ICD10:Q14.1" +MONDO:0020247 "Orphanet:98669 SCTID:449866003 ICD9:743.56 ICD10CM:Q14.1" MONDO:0010628 "OMIM:308250" MONDO:0003869 "An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life." "GARD:0009306 DOID:6383 UMLS:C0278600 NCIT:C9042" GO:0006600 "The chemical reactions and pathways involving creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle." MONDO:0043355 "A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis." "UMLS:C4040043 NCIT:C122082 GARD:0010961 SCTID:711499009" CL:0000706 "Specialized ependymal cell that produces the cerebrospinal fluid from the blood and secretes it into the lumen of the brain and spinal chord." "FMA:70549" MONDO:0700030 "Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism." -MONDO:0005806 "A primary or metastatic malignant neoplasm that affects the hypopharynx." "NCIT:C7190 ICD9:148 ICD9:148.3 ICD10:C13.2 MESH:D007012 DOID:8533 GARD:0009334 ICD10:C13 SCTID:303012000 EFO:0007321 ICD9:148.9 ICD10:C13.9" -MONDO:0005665 "Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur." "DOID:12506 GARD:0005906 NCIT:C26769 MESH:D020330 Orphanet:2810 ICD9:351.0 EFO:0007167 ICD10:G51.0 UMLS:C0376175 SCTID:193093009" +MONDO:0005806 "A primary or metastatic malignant neoplasm that affects the hypopharynx." "EFO:0007321 ICD9:148.3 MESH:D007012 GARD:0009334 NCIT:C7190 DOID:8533 ICD9:148.9 ICD9:148 ICD10CM:C13 SCTID:303012000" +MONDO:0005665 "Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur." "DOID:12506 GARD:0005906 NCIT:C26769 MESH:D020330 Orphanet:2810 ICD9:351.0 EFO:0007167 UMLS:C0376175 SCTID:193093009 ICD10CM:G51.0" CHEBI:67079 "Any compound that has anti-inflammatory effects." -MONDO:0010861 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26." "UMLS:C1838262 ICD10:E10 OMIM:600318 MESH:C563960 DOID:0110742" +MONDO:0010861 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26." "UMLS:C1838262 OMIM:600318 MESH:C563960 DOID:0110742" UBERON:0001131 -MONDO:0017225 "The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." "UMLS:CN202707 Orphanet:280234 ICD10:E75.2" +MONDO:0017225 "The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." "ICD10CM:E75.2 UMLS:CN202707 Orphanet:280234" http://identifiers.org/hgnc/30839 UBERON:0019204 -MONDO:0015560 "Orphanet:158796 ICD10:C94.3" +MONDO:0015560 "ICD10CM:C94.3 Orphanet:158796" MONDO:0005858 "An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung." "MESH:D018282 UMLS:C0206699 DOID:3603 NCIT:C3776 ICDO:8470/3 EFO:0007378" -MONDO:0005492 "A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress." "EFO:0005531 SCTID:126485001 HP:0001025 NCIT:C3432 ICD9:708 ICD10:L50 DOID:1555 MESH:D014581 ICD9:708.8 UMLS:C0042109 ICD9:708.9" +MONDO:0005492 "A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress." "EFO:0005531 SCTID:126485001 ICD10CM:L49-L54 HP:0001025 NCIT:C3432 ICD9:708 DOID:1555 MESH:D014581 ICD9:708.8 UMLS:C0042109 ICD10CM:L50 ICD9:708.9" MONDO:0006116 "A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma." "UMLS:C3642344 NCIT:C53553 EFO:1000143" MONDO:0023868 "Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision." "UMLS:C0730308 SCTID:312941005 GARD:0012041" UBERON:0004992 MONDO:0003547 "NCIT:C43251" -MONDO:0016489 "Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." "ICD9:282.49 NCIT:C172823 ICD10:D56.2 Orphanet:231237 SCTID:16360009 MESH:C562716 OMIM:141749 MedDRA:10012236" +MONDO:0016489 "Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." "ICD10CM:D56.2 ICD9:282.49 NCIT:C172823 Orphanet:231237 SCTID:16360009 MESH:C562716 OMIM:141749 MedDRA:10012236" http://identifiers.org/hgnc/26257 MONDO:0021360 "A neoplasm (disease) that involves the parathyroid gland." "SCTID:127020005 NCIT:C3313 ICD9:239.7" MONDO:0000513 "A ameloblastoma that involves the bone tissue." "DOID:0050895" @@ -16848,13 +16840,13 @@ CL:0000040 "A myeloid progenitor cell committed to the monocyte lineage. This ce MONDO:0020300 "Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief." "OMIM:610353 OMIM:603204 OMIM:615005 MESH:C579932 SCTID:698021005 GARD:0011918 OMIM:605375 ICD9:345.80 Orphanet:98784 UMLS:C3696898 DOID:0060681 OMIM:600513" HP:0002619 "Enlarged and tortuous veins." "UMLS:C0042345 SNOMEDCT_US:399989005 MSH:D014648 SNOMEDCT_US:128060009 SNOMEDCT_US:12856003" MONDO:0013124 "OMIM:613088" -MONDO:0020704 "Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase." "GARD:0009164 OMIM:600332 Orphanet:97238 MedDRA:10069417 OMIM:606072 ICD10:G71.8" -MONDO:0019632 "Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi." "MedDRA:10025169 ICD10:A69.20 Orphanet:91546 ICD10:A69.2 UMLS:C0024198 MESH:D008193 SCTID:48982009 GARD:0012073 DOID:11729 EFO:0008510 NCIT:C45161 ICD9:088.81" +MONDO:0020704 "Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase." "GARD:0009164 OMIM:600332 Orphanet:97238 MedDRA:10069417 OMIM:606072" +MONDO:0019632 "Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi." "MedDRA:10025169 Orphanet:91546 ICD10CM:A69.2 UMLS:C0024198 MESH:D008193 SCTID:48982009 GARD:0012073 DOID:11729 EFO:0008510 NCIT:C45161 ICD9:088.81" MONDO:0002349 MONDO:0043257 "HGNC:3048 SCTID:46459009 UMLS:C0263314 GARD:0007353 MESH:C535551" -MONDO:0004744 "SCTID:193531003 UMLS:C1533674 DOID:9283 ICD9:365.00 ICD10:H40.00" +MONDO:0004744 "SCTID:193531003 UMLS:C1533674 DOID:9283 ICD9:365.00" CL:0000820 "A B-1 B cell that has the phenotype CD5-positive." -MONDO:0002170 "Chronic form of otosalpingitis." "DOID:1999 ICD10:H68.029 ICD10:H68.02 SCTID:194269002 UMLS:C0155430 ICD9:381.52" +MONDO:0002170 "Chronic form of otosalpingitis." "DOID:1999 SCTID:194269002 UMLS:C0155430 ICD9:381.52" GO:0006903 "The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo." NCBITaxon:33154 "GC_ID:1" MONDO:0001844 "A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma." "NCIT:C40166 DOID:13956 UMLS:C1519860" @@ -16864,11 +16856,11 @@ MONDO:0020241 "Orphanet:98662 UMLS:CN227835" MONDO:0009640 GO:0002522 "The movement of a leukocyte within or between different tissues and organs of the body as part of an immune response." MONDO:0003811 "A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous." "NCIT:C4508 UMLS:C0346166 DOID:6211 SCTID:254855000 EFO:1000425" -MONDO:0011476 "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections." "OMIM:241600 SCTID:725136003 DOID:0060009 UMLS:C1858266 GARD:0008427 OMIM:604571 ICD10:D81.6 Orphanet:34592" +MONDO:0011476 "Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections." "OMIM:241600 SCTID:725136003 DOID:0060009 UMLS:C1858266 GARD:0008427 OMIM:604571 Orphanet:34592" ECTO:9001793 "An exposure to anaesthetic." GO:0032274 "The regulated release of a gonadotropin, any hormone that stimulates the gonads, especially follicle-stimulating hormone and luteinizing hormone." http://identifiers.org/hgnc/7193 -MONDO:0001108 "A malignant neoplasm involving the broad ligament of uterus." "ICD9:183.3 DOID:10744 ICD10:C57.1 UMLS:C0346866 SCTID:449259009" +MONDO:0001108 "A malignant neoplasm involving the broad ligament of uterus." "ICD9:183.3 DOID:10744 UMLS:C0346866 SCTID:449259009" GO:0008324 "Enables the transfer of cation from one side of a membrane to the other." CL:1000317 "A goblet cell that is part of the epithelium of intestinal villus." "FMA:263046" MONDO:0014646 "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene." "UMLS:C4225321 OMIM:616455 Orphanet:3473" @@ -16876,9 +16868,9 @@ MONDO:0001991 "A rare malignant germ cell tumor that arises from the pericardium MONDO:0020660 "A conventional osteosarcoma characterized by the predominance of osteoid matrix." "NCIT:C53953" HP:0012384 "Inflammation of the nasal mucosa with nasal congestion." "MSH:D012220 UMLS:C2718128 UMLS:C0035455 SNOMEDCT_US:70076002" NCBITaxon:34353 "GC_ID:1" -MONDO:0019346 "Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life." "ICD10:E77.1 GARD:0007639 UMLS:CN206021 Orphanet:812 OMIM:256550 UMLS:C0023806 SCTID:34960006" +MONDO:0019346 "Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life." "GARD:0007639 ICD10CM:E77.1 UMLS:CN206021 Orphanet:812 OMIM:256550 UMLS:C0023806 SCTID:34960006" NCBITaxon:578835 "GC_ID:1" -MONDO:0011647 "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13." "UMLS:C1853555 ICD10:G30 Orphanet:1020 OMIM:606187 DOID:0110039 MESH:C565251" +MONDO:0011647 "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13." "UMLS:C1853555 ICD10CM:G30 Orphanet:1020 OMIM:606187 DOID:0110039 MESH:C565251" MONDO:0003611 "A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences." "UMLS:C3642324 NCIT:C40142 DOID:5726" MONDO:0009187 "Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications." "MESH:C535496 GARD:0002166 Orphanet:1459 UMLS:C1856930 OMIM:226810" CHR:9606-chr15q24 @@ -16887,20 +16879,20 @@ UBERON:0001394 MONDO:0003423 "A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss." "DOID:5387 NCIT:C6834 UMLS:C1334759 SCTID:734078009" MONDO:0013126 MONDO:0008441 "MESH:C566681 OMIM:182800 UMLS:C1866852" -MONDO:0016506 "Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement." "ICD10:E26.8 UMLS:CN201515 Orphanet:231632" +MONDO:0016506 "Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement." "ICD10CM:E26.8 UMLS:CN201515 Orphanet:231632" MONDO:0009174 "Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine." "UMLS:C0033680 HP:0002243 Orphanet:566175 DOID:10611 MESH:D011504 OMIM:226300 ICD9:579.8 SCTID:22542007" MONDO:0013248 "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene." "OMIM:613390 UMLS:C3150653 DOID:0111096" -MONDO:0011383 "A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." "ICD10:D47.9 MESH:C565833 Orphanet:3261 DOID:0110115 UMLS:C1858968 NCIT:C39576 OMIM:603909 UMLS:C1519709" +MONDO:0011383 "A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." "MESH:C565833 Orphanet:3261 DOID:0110115 UMLS:C1858968 NCIT:C39576 OMIM:603909 UMLS:C1519709" GO:0046851 "Any process that stops, prevents, or reduces the frequency, rate or extent of bone remodeling." ENVO:01000016 "Silt is granular material of a size somewhere between sand and clay whose mineral origin is quartz and feldspar." -MONDO:0009115 "Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." "OMIM:223000 Orphanet:53690 GARD:0012311 SCTID:5388008 DOID:0111646 ICD9:271.3 ICD10:E73.0 MESH:C562600" +MONDO:0009115 "Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." "OMIM:223000 Orphanet:53690 GARD:0012311 ICD10CM:E73.0 SCTID:5388008 DOID:0111646 ICD9:271.3 MESH:C562600" MONDO:0044887 "A non-Hodgkin lymphoma that arises from the central nervous system." "NCIT:C114779 UMLS:C2213246 SCTID:448254007" MONDO:0020243 "Orphanet:98665" MONDO:0001641 "Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances." "DOID:13129 ICD9:642.50 NCIT:C112843" MONDO:0021941 "An infection with Trypanosoma brucei rhodesiense." "NCIT:C35085 UMLS:C0041233 SCTID:42872003 ICD9:086.4" MONDO:0003508 "A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." "UMLS:C0238449 DOID:5551 NCIT:C7733 ONCOTREE:TCCA EFO:1000564" NCBITaxon:65647 "GC_ID:1" -MONDO:0016444 "Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause." "SCTID:238829001 ICD10:L90.1 ICD10:L90.2 MESH:D057088 UMLS:C0406550 Orphanet:228272" +MONDO:0016444 "Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause." "SCTID:238829001 ICD10CM:L90.1 MESH:D057088 UMLS:C0406550 ICD10CM:L90.2 Orphanet:228272" MONDO:0043254 "GARD:0007322 SCTID:55608001 MESH:C537169" GO:0002183 "The process preceding formation of the peptide bond between the first two amino acids of a protein in the cytoplasm. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA." MONDO:0002348 @@ -16911,11 +16903,11 @@ CHEBI:64709 "Any organic molecular entity that is acidic and contains carbon in HP:0002577 "An abnormality of the stomach." "UMLS:C4025699" MONDO:0600005 "An allergic disease involving venom." GO:0042423 "The chemical reactions and pathways resulting in the formation of any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine." -MONDO:0010481 "Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx." "HP:0100665 SCTID:400075008 MESH:D000799 EFO:0005532 ICD10:T78.3 NCIT:C112175 SCTID:41291007 CSP:2716-7007 ICD9:995.1 DOID:1558" +MONDO:0010481 "Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx." "HP:0100665 SCTID:400075008 MESH:D000799 EFO:0005532 NCIT:C112175 SCTID:41291007 CSP:2716-7007 ICD9:995.1 DOID:1558" MONDO:0002971 "A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." "UMLS:C0206735 EFO:1001937 DOID:4359 NCIT:C3802 ICDO:8730/3 MESH:D018328" http://identifiers.org/hgnc/15454 MONDO:0003581 "An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain." "ONCOTREE:OEC EFO:1000415 SCTID:254872007 NCIT:C8108 UMLS:C0346183 DOID:5681" -MONDO:0018089 "Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." "UMLS:C0013069 DOID:6406 NCIT:C98916 Orphanet:3426 SCTID:204299009 MESH:D004310 ICD10:Q20.1 OMIM:217095 MedDRA:10013611 GARD:0001908" +MONDO:0018089 "Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle." "UMLS:C0013069 DOID:6406 NCIT:C98916 Orphanet:3426 SCTID:204299009 MESH:D004310 OMIM:217095 MedDRA:10013611 GARD:0001908" http://identifiers.org/hgnc/2023 MONDO:0003650 "A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component." "UMLS:C1334784 NCIT:C7097 ICDO:8970/3 DOID:5789" CHEBI:37949 @@ -16930,53 +16922,53 @@ MONDO:0003443 "A neoplastic lesion of the urinary tract transitional cell epithe MONDO:0010642 "OMIM:308950 Orphanet:510" MONDO:0018041 "Orphanet:331244 UMLS:CN204282" http://identifiers.org/hgnc/8125 -MONDO:0015096 "Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration." "ICD10:D68.2 Orphanet:101041 UMLS:CN197419 OMIM:202400 GARD:0002887" -MONDO:0017100 "Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections." "UMLS:CN202458 Orphanet:2690 ICD10:D82.8" +MONDO:0015096 "Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration." "Orphanet:101041 UMLS:CN197419 OMIM:202400 GARD:0002887 ICD10CM:D68.2" +MONDO:0017100 "Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections." "UMLS:CN202458 ICD10CM:D82.8 Orphanet:2690" CL:0000604 "One of the two photoreceptor cell types of the vertebrate retina. In rods the photopigment is in stacks of membranous disks separate from the outer cell membrane. Rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision." "FMA:67747 CALOHA:TS-0870 BTO:0001024" MONDO:0016744 "UMLS:CN201991 Orphanet:252028" -MONDO:0018026 "The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages." "GARD:0005151 SCTID:726363000 MESH:D057891 UMLS:C0795884 ICD10:Q92.7 Orphanet:3305" +MONDO:0018026 "The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages." "GARD:0005151 SCTID:726363000 ICD10CM:Q92.7 MESH:D057891 UMLS:C0795884 Orphanet:3305" GO:0034645 "The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells." http://identifiers.org/hgnc/4685 http://identifiers.org/hgnc/2022 MONDO:0100029 "An immune epilepsy where the underlying cause is antibody mediated." HP:0000080 "An abnormal functionality of the genital system." "UMLS:C4021820 UMLS:C4020896" UBERON:0013118 -MONDO:0005027 "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions." "DOID:1826 ICD9:345.9 SCTID:84757009 ICD9:345.90 ICD10:G40.909 ICD10:G40 MESH:D004827 ICD10:G40.9 NCIT:C3020 ICD9:345.80 ICD9:345 NIFSTD:birnlex_12718 ICD9:345.8 EFO:0000474 ICD9:345.91" +MONDO:0005027 "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions." "ICD10CM:G40 DOID:1826 ICD9:345.9 SCTID:84757009 ICD9:345.90 ICD10CM:G40-G47 MESH:D004827 NCIT:C3020 ICD9:345.80 ICD9:345 NIFSTD:birnlex_12718 ICD9:345.8 EFO:0000474 ICD9:345.91" UBERON:0009625 -MONDO:0041806 "Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications." "SCTID:423709000" +MONDO:0041806 "Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications." "ICD10CM:Z16-Z16 SCTID:423709000" UBERON:0007228 -MONDO:0010732 "Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits." "OMIM:312910 GARD:0005555 UMLS:C2931291 MESH:C536692 ICD10:G11.4 SCTID:715504003 Orphanet:2815" +MONDO:0010732 "Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits." "OMIM:312910 GARD:0005555 UMLS:C2931291 ICD10CM:G11.4 MESH:C536692 SCTID:715504003 Orphanet:2815" MONDO:0002334 "Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003" "SCTID:129154003 NCIT:C35813 DOID:2531 UMLS:C1512393 UMLS:C0376544 MESH:D019337 UMLS:C0376545" http://identifiers.org/hgnc/14255 GO:0060377 "Any process that decreases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation." NCBITaxon:77643 "GC_ID:11 PMID:29205127 PMID:15243089" -MONDO:0017943 "Orphanet:324636 MESH:C535645 ICD10:D69.2 UMLS:C0301928 GARD:0006481 SCTID:275446004 ICD9:287.2" +MONDO:0017943 "Orphanet:324636 MESH:C535645 UMLS:C0301928 GARD:0006481 SCTID:275446004 ICD9:287.2 ICD10CM:D69.2" MONDO:0014194 "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene." "OMIM:615453 Orphanet:1460 UMLS:C3809553 DOID:0080115" -MONDO:0010886 "Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism." "UMLS:C2931817 MESH:C538317 NCIT:C129021 SCTID:702357000 ICD10:Q93.5 ICD9:758.39 OMIM:600430 DOID:0111704 Orphanet:1001 GARD:0010202" +MONDO:0010886 "Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism." "UMLS:C2931817 MESH:C538317 NCIT:C129021 SCTID:702357000 ICD9:758.39 OMIM:600430 DOID:0111704 Orphanet:1001 ICD10CM:Q93.5 GARD:0010202" HP:0002901 "An abnormally decreased calcium concentration in the blood." "UMLS:C0020598 MSH:D006996 SNOMEDCT_US:5291005" -MONDO:0020341 "Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." "MedDRA:10066854 OMIMPS:300049 UMLS:C1868720 OMIM:608098 OMIM:615544 GARD:0012724 SCTID:448227009 OMIM:608097 Orphanet:98892 MESH:D054091 OMIM:300049 OMIM:612881 OMIM:617201 ICD10:Q04.8 DOID:0050454" +MONDO:0020341 "Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." "MedDRA:10066854 OMIMPS:300049 UMLS:C1868720 OMIM:608098 OMIM:615544 ICD10CM:Q04.8 GARD:0012724 SCTID:448227009 OMIM:608097 Orphanet:98892 MESH:D054091 OMIM:300049 OMIM:612881 OMIM:617201 DOID:0050454" MONDO:0018042 "UMLS:CN204283 Orphanet:331249" -MONDO:0021309 "A cancer that involves the endocervix." "NCIT:C3553 SCTID:372097009 ICD9:180.0 ICD10:C53.0" +MONDO:0021309 "A cancer that involves the endocervix." "NCIT:C3553 SCTID:372097009 ICD10CM:C53.0 ICD9:180.0" http://identifiers.org/hgnc/20145 GO:0070129 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion." MONDO:0006348 "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells." "NCIT:C95583 EFO:1000444 UMLS:C2987240" -MONDO:0007182 "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." "GARD:0006801 ICD9:336.8 MESH:D017827 OMIM:109150 UMLS:C0024408 ICD10:G11.8 NCIT:C84830 SCTID:91952008 Orphanet:98757 DOID:1440" +MONDO:0007182 "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." "GARD:0006801 ICD9:336.8 MESH:D017827 OMIM:109150 ICD10CM:G11.8 UMLS:C0024408 NCIT:C84830 SCTID:91952008 Orphanet:98757 DOID:1440" http://identifiers.org/hgnc/2025 UBERON:0009622 GO:1900076 "Any process that modulates the frequency, rate or extent of cellular response to insulin stimulus." -MONDO:0011287 "Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." "MESH:C536789 GARD:0009506 OMIM:603116 ICD10:Q87.8 SCTID:720812002 Orphanet:85199" -MONDO:0012043 "Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." "ICD10:H18.5 ICD9:371.52 OMIM:608470 UMLS:C0339278 Orphanet:98961 GARD:0009276 SCTID:231930000 DOID:0060453 MESH:C535476" +MONDO:0011287 "Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." "MESH:C536789 GARD:0009506 ICD10CM:Q87.8 OMIM:603116 SCTID:720812002 Orphanet:85199" +MONDO:0012043 "Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." "ICD10CM:H18.5 ICD9:371.52 OMIM:608470 UMLS:C0339278 Orphanet:98961 GARD:0009276 SCTID:231930000 DOID:0060453 MESH:C535476" GO:1902476 "The process in which chloride is transported across a membrane." PATO:0000402 "A branchiness quality inhering in a bearer by virtue of the bearer's having branches." -MONDO:0011132 "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12." "Orphanet:169095 SCTID:720345008 GARD:0004358 OMIM:601705 ICD10:D82.8 MESH:C536781 UMLS:C1866426 DOID:0060769" +MONDO:0011132 "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12." "Orphanet:169095 SCTID:720345008 GARD:0004358 OMIM:601705 ICD10CM:D82.8 MESH:C536781 UMLS:C1866426 DOID:0060769" http://identifiers.org/hgnc/9587 -MONDO:0007254 "A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males." "DOID:1612 SCTID:254837009 ICD10:C50 ICD10:C50-C50 OMIM:605365 NCIT:C9335 MESH:D001943 SCTID:126926005 ICD9:174.8 OMIM:600048" +MONDO:0007254 "A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males." "DOID:1612 SCTID:254837009 OMIM:605365 NCIT:C9335 MESH:D001943 SCTID:126926005 ICD9:174.8 ICD10CM:C50 OMIM:600048" MONDO:0013303 "Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene." "OMIM:613551" http://identifiers.org/hgnc/14258 GO:1901361 "The chemical reactions and pathways resulting in the breakdown of organic cyclic compound." UBERON:0008424 -MONDO:0005845 "Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan." "MESH:D008590 SCTID:7125002 ICD10:A69.22 ICD10:G04 DOID:10554 NCIT:C34813 EFO:0007364 UMLS:C0025309" -MONDO:0007369 "Hereditary coproporphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions." "GARD:0006619 ICD10:E80.29 MESH:D046349 NCIT:C84759 SCTID:7425008 ICD10:E80.2 MedDRA:10019866 Orphanet:79273 DOID:13269 OMIM:121300 UMLS:C0162531" +MONDO:0005845 "Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan." "MESH:D008590 SCTID:7125002 DOID:10554 NCIT:C34813 EFO:0007364 UMLS:C0025309" +MONDO:0007369 "Hereditary coproporphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions." "GARD:0006619 MESH:D046349 NCIT:C84759 SCTID:7425008 MedDRA:10019866 Orphanet:79273 DOID:13269 OMIM:121300 UMLS:C0162531 ICD10CM:E80.2" MONDO:0000382 "A benign neoplasm that involves the respiratory system." "DOID:0050621 UMLS:C0497556 SCTID:255166003" MONDO:0007670 "Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." "GARD:0012827 OMIM:607823 Orphanet:69735 OMIM:137940" MONDO:0010644 "UMLS:C1839874 Orphanet:93622 Orphanet:1652 OMIM:308990" @@ -16989,9 +16981,9 @@ MONDO:0014942 "Any early infantile epileptic encephalopathy in which the cause o GO:0048732 "The process whose specific outcome is the progression of a gland over time, from its formation to the mature structure. A gland is an organ specialised for secretion." http://identifiers.org/hgnc/4421 UBERON:0009889 -MONDO:0013553 "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene." "DOID:0090009 ICD10:D84.8 OMIM:614069 UMLS:C3279748 Orphanet:2268" +MONDO:0013553 "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene." "DOID:0090009 OMIM:614069 UMLS:C3279748 Orphanet:2268" http://identifiers.org/hgnc/6826 -MONDO:0011841 "Orphanet:199348 ICD10:G25.8 OMIM:607483 GARD:0010237 SCTID:723557004 SCTID:703522009 Orphanet:65284 UMLS:C1843807 ICD9:333.99 DOID:0050659 MESH:C537658" +MONDO:0011841 "Orphanet:199348 ICD10CM:G25.8 OMIM:607483 GARD:0010237 SCTID:723557004 SCTID:703522009 Orphanet:65284 UMLS:C1843807 ICD9:333.99 DOID:0050659 MESH:C537658" MONDO:0014587 "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene." "OMIM:616325 UMLS:C4225368 Orphanet:590 DOID:0110670" http://identifiers.org/hgnc/9588 HP:0009743 "Double rows of eyelashes." "UMLS:C0423848 SNOMEDCT_US:95339000" @@ -16999,30 +16991,30 @@ NCBITaxon:122277 "PMID:9779605 PMID:11155980 GC_ID:11" MONDO:0008456 "MESH:C566669 UMLS:C1866770 OMIM:183050" MONDO:0015544 "UMLS:CN199702 Orphanet:158057" GO:2000871 "Any process that stops, prevents or reduces the frequency, rate or extent of progesterone secretion." -MONDO:0017138 "Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." "Orphanet:2745 UMLS:CN202554 OMIMPS:300000 GARD:0000193 KEGG:H00583 ICD10:Q87.8 OMIM:300000 OMIM:145410 NCIT:C125487 DOID:0050780 ICD9:758.89 SCTID:81771002" +MONDO:0017138 "Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." "Orphanet:2745 UMLS:CN202554 OMIMPS:300000 GARD:0000193 KEGG:H00583 OMIM:300000 OMIM:145410 NCIT:C125487 DOID:0050780 ICD9:758.89 ICD10CM:Q87.8 SCTID:81771002" GO:0001539 "Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella." UBERON:0008425 http://identifiers.org/hgnc/8124 -MONDO:0001427 "Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly." "ICD10:K31.82 UMLS:C0341217 ICD9:537.84 SCTID:109558001 GARD:0010930 DOID:12070" +MONDO:0001427 "Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly." "UMLS:C0341217 ICD9:537.84 SCTID:109558001 GARD:0010930 DOID:12070 ICD10CM:K31.82" HP:0030810 "Any functional anomaly of the tongue." "UMLS:C4280754" MONDO:0018040 "Orphanet:331240" MONDO:0007258 "UMLS:C1861899 OMIM:114600" CHEBI:65255 "Substances which are added to food in order to prevent decomposition caused by microbial growth or by undesirable chemical changes." http://identifiers.org/hgnc/2027 GO:0008168 "Catalysis of the transfer of a methyl group to an acceptor molecule." -MONDO:0015463 "Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit." "SCTID:763665007 ICD10:Q87.0 GARD:0004776 Orphanet:1514 MESH:C537528 UMLS:C1839311" +MONDO:0015463 "Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit." "SCTID:763665007 OMIM:312860 ICD10CM:Q87.0 GARD:0004776 Orphanet:1514 MESH:C537528 UMLS:C1839311" http://identifiers.org/hgnc/9585 http://identifiers.org/hgnc/4422 MONDO:0016741 http://identifiers.org/hgnc/4688 -MONDO:0024472 "An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii." "Orphanet:83313 MedDRA:10006045 ICD9:082.1 UMLS:C0006060 Orphanet:101334 DOID:14095 ICD10:A77.1 SCTID:186774005 MESH:D001907 EFO:0007179" +MONDO:0024472 "An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii." "Orphanet:83313 MedDRA:10006045 ICD9:082.1 UMLS:C0006060 Orphanet:101334 DOID:14095 ICD10CM:A77.1 SCTID:186774005 MESH:D001907 EFO:0007179" http://identifiers.org/hgnc/291 HP:0005912 "Atresia of the biliary tree." "SNOMEDCT_US:77480004 SNOMEDCT_US:82821008 MSH:D001656 UMLS:C0005411" MONDO:0007300 "A sarcoma involving a telencephalon." "Orphanet:2030 MESH:C537946 OMIM:117600 UMLS:C1861714 GARD:0010073" -MONDO:0009043 "A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues." "OMIM:188570 OMIM:274300 ICD10:E07.8 Orphanet:3221" +MONDO:0009043 "A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues." "OMIM:188570 OMIM:274300 ICD10CM:E07.8 Orphanet:3221" MONDO:0017632 "OBSOLETE. Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence." "Orphanet:306636" MONDO:0011845 "OMIM:607498" -MONDO:0014608 "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia." "DOID:0060365 OMIM:616367 Orphanet:443995 UMLS:C4225349 ICD10:Q75.4" +MONDO:0014608 "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia." "DOID:0060365 OMIM:616367 Orphanet:443995 UMLS:C4225349 ICD10CM:Q75.4" CL:1000606 "KUPO:0001015" MONDO:0019469 "T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage." "Orphanet:86872 ONCOTREE:TLGL DOID:0050751 ICDO:9831/3 UMLS:C1522378 NCIT:C4664 MedDRA:10065862 ICDO:9831/1 ICD9:204.80 GARD:0009812 UMLS:C1955861 SCTID:277569004 ICDO:9768/1" CHEBI:57504 "An amino acid zwitterion obtained from the transfer of a proton from the carboxy group to the amino group of L-dopa. Major microspecies at pH 7.3." @@ -17036,7 +17028,7 @@ MONDO:0014459 "Any Adams-Oliver syndrome in which the cause of the disease is a MONDO:0010646 "OMIM:309100 UMLS:C1839842 MESH:C564110" http://identifiers.org/hgnc/2026 NCBITaxon:28450 "PMID:12734250 GC_ID:11 PMID:1283774" -MONDO:0011847 "An inherited susceptibility or predisposition to developing migraines without aura." "ICD10:G43.009 OMIM:607501 ICD9:346.1 HP:0002083 ICD10:G43.0" +MONDO:0011847 "An inherited susceptibility or predisposition to developing migraines without aura." "OMIM:607501 ICD9:346.1 HP:0002083" MONDO:0009524 "Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet)." "MESH:C537446 SCTID:763743003 Orphanet:1891 UMLS:C0796001 GARD:0003523 OMIM:246555" MONDO:0002726 "A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology." "NCIT:C7138 DOID:3666 MESH:D054705 ICDO:9740/1 EFO:1001844" http://identifiers.org/hgnc/9586 @@ -17045,19 +17037,19 @@ MONDO:0011393 "Any ypoalphalipoproteinemia in which the cause of the disease is http://identifiers.org/hgnc/4689 MONDO:0005375 "A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma." "EFO:0004252 SCTID:126680004 UMLS:C0027439 MESH:D009303 NCIT:C3257 MESH:C538339" MONDO:0043735 "Necrosis of bone following radiation injury." "SCTID:109333005 MESH:D010025 NCIT:C63707" -MONDO:0009459 "A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)" "OMIM:243000 Orphanet:88642 GARD:0012267 Orphanet:970 ICD10:G60.8 MESH:D009477 UMLS:C1855739" +MONDO:0009459 "A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)" "OMIM:243000 Orphanet:88642 GARD:0012267 ICD10CM:G60.8 Orphanet:970 MESH:D009477 UMLS:C1855739" MONDO:0009806 "Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene." "Orphanet:2771 OMIM:259450 GARD:0001029 UMLS:C1850168" -MONDO:0017373 "An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine." "ICD10:A80.9 ICD10:A80.0 EFO:0007450 UMLS:C0032371 ICD9:045.9 MedDRA:10036012 GARD:0007413 ICD10:A80.2 ICD10:A80.4 MESH:D011051 NCIT:C35550 Orphanet:2912 ICD9:045.90 ICD9:045.92 DOID:4953 ICD10:A80.1 ICD10:A80.3 ICD10:A80 SCTID:398102009 ICD9:045" +MONDO:0017373 "An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine." "ICD10CM:A80.3 EFO:0007450 UMLS:C0032371 ICD9:045.9 ICD10CM:A80.0 MedDRA:10036012 ICD10CM:A80.2 GARD:0007413 ICD10CM:A80.9 MESH:D011051 NCIT:C35550 Orphanet:2912 ICD9:045.90 ICD10CM:A80.1 ICD9:045.92 DOID:4953 ICD10CM:A80.4 SCTID:398102009 ICD9:045" MONDO:0007723 "Any Hirschsprung disease in which the cause of the disease is a mutation in the RET gene." "Orphanet:388 UMLS:C2931876 OMIM:142623" ENVO:01001795 "An environmental process either driven by or primarily impacting the parts or emergent properties of an ecosystem." MONDO:0009003 "Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms." "GARD:0009649 DOID:0110007 Orphanet:49382 OMIM:216900 UMLS:C1857618" -MONDO:0001681 "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder." "SCTID:48278001 DOID:13306 ICD10:A36.85 ICD9:032.84 UMLS:C0152954" +MONDO:0001681 "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder." "SCTID:48278001 ICD10CM:A36.85 DOID:13306 ICD9:032.84 UMLS:C0152954" MONDO:0024879 "A carcinoma which has spread from the original site of growth to another anatomic site." "NCIT:C3482 ICDO:8010/6 UMLS:C1384494" MONDO:0012931 "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene." "OMIM:612551" MONDO:0008743 "Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood." "OMIM:202900 UMLS:C1859965 MESH:C565968 GARD:0005026 SCTID:733072002 Orphanet:3199" -MONDO:0011872 "Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood." "MESH:C537302 Orphanet:79477 NCIT:C111814 GARD:0004483 ICD10:E70.3 UMLS:C1868679 OMIM:607624 Orphanet:381 DOID:0060833" +MONDO:0011872 "Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood." "MESH:C537302 Orphanet:79477 NCIT:C111814 GARD:0004483 UMLS:C1868679 OMIM:607624 Orphanet:381 ICD10CM:E70.3 DOID:0060833" MONDO:0014640 "An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35." "Orphanet:803 UMLS:C4225326 OMIM:616437 Orphanet:275864 DOID:0110068 Orphanet:275872" -MONDO:0020082 "A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy." "SCTID:737223000 GARD:0008317 UMLS:C1260325 NCIT:C27260 ICD10:C96.4 Orphanet:98289 UMLS:CN206984" +MONDO:0020082 "A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy." "SCTID:737223000 GARD:0008317 UMLS:C1260325 NCIT:C27260 Orphanet:98289 UMLS:CN206984" MONDO:0000182 "A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers." "OMIMPS:610542 UMLS:CN228621" MONDO:0013741 "A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13." "UMLS:C3280730 DOID:0060752 Orphanet:165805 OMIM:614417 Orphanet:163717" HP:0002145 "A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders." "UMLS:C0338451 SNOMEDCT_US:230270009 MSH:D057180" @@ -17069,41 +17061,41 @@ UBERON:0011814 http://identifiers.org/hgnc/3226 MONDO:0030919 "OMIM:617798 DOID:0080228 Orphanet:178469 EFO:0009165" MONDO:0010648 "MESH:C564108 OMIM:309200 DOID:0080221" -MONDO:0004390 "Abnormally low intraocular pressure often related to chronic inflammation (uveitis)." "ICD9:360.3 ICD9:360.30 DOID:790 ICD10:H44.40 SCTID:19721008 UMLS:C0028841 MESH:D015814 ICD10:H44.4" +MONDO:0004390 "Abnormally low intraocular pressure often related to chronic inflammation (uveitis)." "ICD9:360.3 ICD9:360.30 DOID:790 SCTID:19721008 UMLS:C0028841 MESH:D015814" MONDO:0014678 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene." "Orphanet:178469 UMLS:C4225296 DOID:0070069 OMIM:616521" http://identifiers.org/hgnc/15459 MONDO:0011846 "OMIM:607499 UMLS:CN244558" -MONDO:0013143 "ICD10:D68.5 OMIM:613116 Orphanet:217467 MESH:C567737" -MONDO:0007937 "Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." "SCTID:725393000 DOID:0060885 OMIM:154020 UMLS:C4511005 Orphanet:34528 GARD:0003350 UMLS:C1835171 ICD10:E83.4 MESH:C537152" -MONDO:0006774 "Three or more consecutive spontaneous abortions." "MedDRA:10062935 EFO:1000954 ICD10:N96 MESH:D000026 SCTID:102878001" +MONDO:0013143 "ICD10CM:D68.5 OMIM:613116 Orphanet:217467 MESH:C567737" +MONDO:0007937 "Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." "ICD10CM:E83.4 SCTID:725393000 DOID:0060885 OMIM:154020 UMLS:C4511005 Orphanet:34528 GARD:0003350 UMLS:C1835171 MESH:C537152" +MONDO:0006774 "Three or more consecutive spontaneous abortions." "MedDRA:10062935 EFO:1000954 MESH:D000026 SCTID:102878001" UBERON:0008429 -MONDO:0007216 "Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger." "SCTID:720569006 GARD:0000979 DOID:0110965 Orphanet:93396 OMIM:112600 ICD10:Q73.8 MESH:C537089 GARD:0000989" +MONDO:0007216 "Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger." "SCTID:720569006 GARD:0000979 DOID:0110965 Orphanet:93396 ICD10CM:Q73.8 OMIM:112600 MESH:C537089 GARD:0000989" UBERON:0009882 MONDO:0011133 "Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss." "OMIM:601706 Orphanet:3214 MESH:C536771 UMLS:C1866425 GARD:0005535 SCTID:721084001" -MONDO:0018769 "An intestinal infection with Isospora belli." "MedDRA:10023076 GARD:0003033 MESH:D021865 SCTID:371423007 Orphanet:472 ICD10:A07.3 UMLS:C0311386 DOID:2112 NCIT:C4076 EFO:0007232" +MONDO:0018769 "An intestinal infection with Isospora belli." "MedDRA:10023076 GARD:0003033 MESH:D021865 ICD10CM:A07.3 SCTID:371423007 Orphanet:472 UMLS:C0311386 DOID:2112 NCIT:C4076 EFO:0007232" GO:0007289 "The specialization of the spermatid nucleus during the development of a spermatid into a mature male gamete competent for fertilization." MONDO:0018049 NCBITaxon:2 "PMID:10425795 PMID:8590690 PMID:12054223 PMID:9103655 PMID:10939673 PMID:11542017 PMID:7520741 PMID:2112744 PMID:10425797 PMID:11321113 PMID:10939677 PMID:11542087 PMID:11540071 PMID:11211268 PMID:11760965 PMID:10843050 PMID:11321083 PMID:10425796 PMID:8123559 PMID:10490293 PMID:10939651 PMID:8186100 PMID:9336922 PMID:270744 GC_ID:11 PMID:11411719" MONDO:0021453 "A benign neoplasm that involves the retina." "NCIT:C3624 UMLS:C0154027 ICD9:224.5 SCTID:92321003" GO:0051046 "Any process that modulates the frequency, rate or extent of the controlled release of a substance from a cell or a tissue." MONDO:0020944 "Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses." "ICD9:117.9 UMLS:C0015405 SCTID:31194008 MESH:D015821" -MONDO:0009028 "Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." "SCTID:715991005 UMLS:C1857532 Orphanet:1512 OMIM:218090 MESH:C536452 ICD10:Q87.5 GARD:0008428" +MONDO:0009028 "Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." "SCTID:715991005 UMLS:C1857532 Orphanet:1512 OMIM:218090 ICD10CM:Q87.5 MESH:C536452 GARD:0008428" CHR:9606-chr8q2 MONDO:0018810 "Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated." "Orphanet:480528 UMLS:CN776878" -MONDO:0009675 "Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy." "ICD10:G71.0 GARD:0003845 DOID:0110275 Orphanet:267 GARD:0001057 SCTID:715341003 OMIM:253600 MESH:C535895 NCIT:C142079" +MONDO:0009675 "Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy." "ICD10CM:G71.0 GARD:0003845 DOID:0110275 Orphanet:267 GARD:0001057 SCTID:715341003 OMIM:253600 MESH:C535895 NCIT:C142079" MONDO:0019246 "UMLS:CN227605 Orphanet:79207" UBERON:2001364 UBERON:0006289 -MONDO:0019852 "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome." "ICD10:E28.3 OMIM:613291 OMIMPS:311360 OMIM:300511 OMIM:612310 OMIM:615724 OMIM:612885 OMIM:608996 OMIM:300510 OMIM:615723 Orphanet:95710 OMIM:612964 OMIM:300604 OMIM:611548 OMIM:311360" +MONDO:0019852 "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome." "OMIM:613291 OMIMPS:311360 OMIM:300511 OMIM:612310 OMIM:615724 OMIM:612885 OMIM:608996 OMIM:300510 OMIM:615723 Orphanet:95710 OMIM:612964 OMIM:300604 OMIM:611548 OMIM:311360 ICD10CM:E28.3" MONDO:0030917 "DOID:0080232 UMLS:CN671931 OMIM:617788" UBERON:0009883 MONDO:0023235 "A rare melanocytic lesion occurring at birth, comprising at least 5% of the body surface area. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors." "NCIT:C4234 ICDO:8761/1 SCTID:254815002 GARD:0002469" UBERON:0007220 -MONDO:0018541 "Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone)." "Orphanet:427 SCTID:715343000 UMLS:C4275180 ICD10:E27.4 OMIM:203400 OMIM:606984 UMLS:CN205074 OMIM:610600" -MONDO:0013267 "Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated." "OMIM:613444 UMLS:C3150701 UMLS:C4518824 SCTID:733521003 DOID:0060398 ICD10:Q93.5 Orphanet:261222" +MONDO:0018541 "Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone)." "Orphanet:427 SCTID:715343000 ICD10CM:E27.4 UMLS:C4275180 OMIM:203400 OMIM:606984 UMLS:CN205074 OMIM:610600" +MONDO:0013267 "Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated." "OMIM:613444 UMLS:C3150701 UMLS:C4518824 ICD10CM:Q93.5 SCTID:733521003 DOID:0060398 Orphanet:261222" http://identifiers.org/hgnc/2280 MONDO:0003560 -MONDO:0000916 "An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa." "DOID:100 ICD10:A00-A09 SCTID:266071000 ICD10:A00.A09 ICD9:008.8 UMLS:C0152516 UMLS:C0178238 ICD9:001-009.99" +MONDO:0000916 "An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa." "DOID:100 ICD10CM:A00-A09 SCTID:266071000 ICD9:008.8 UMLS:C0152516 UMLS:C0178238 ICD9:001-009.99" MONDO:0000702 "Inflammation of the colon that is only apparent by microscopic examination." "UMLS:C0400821 DOID:0060182 SCTID:235753003 ICD9:558.9 EFO:1001295 Orphanet:58220 MESH:D046728 NCIT:C38504" CHR:9606-chr8q1 CL:0002341 "An undifferentiated cell of the prostate epithelium that lacks secretory activity." @@ -17111,32 +17103,32 @@ MONDO:0012759 "Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bon UBERON:0011817 NCBITaxon:1 "GC_ID:1" UBERON:0006288 -MONDO:0011033 "A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34." "ICD10:E10 DOID:0110752 UMLS:C1832474 OMIM:601318 MESH:C563352" +MONDO:0011033 "A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34." "DOID:0110752 UMLS:C1832474 OMIM:601318 MESH:C563352" MONDO:0000778 "A food allergy triggered by a plant fruit product." "DOID:0060503" MONDO:0030918 "DOID:0080231 OMIM:617796 UMLS:CN671932 EFO:0009152" -MONDO:0018047 "MESH:C536900 ICD10:D68.8 GARD:0005195 HGNC:11784 UMLS:C2931365 Orphanet:3324" +MONDO:0018047 "MESH:C536900 GARD:0005195 HGNC:11784 UMLS:C2931365 ICD10CM:D68.8 Orphanet:3324" UBERON:0009880 MONDO:0040500 "OMIM:617816" NCBITaxon:12506 -MONDO:0013613 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene." "ICD10:H35.5 DOID:0110118 OMIM:614186 Orphanet:65 UMLS:C3280062 GARD:0010885" +MONDO:0013613 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene." "DOID:0110118 OMIM:614186 Orphanet:65 UMLS:C3280062 GARD:0010885" MONDO:0045003 "A disease or disorder that involves the scrotum." "UMLS:C0268919 SCTID:49701002" MONDO:0013220 "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene." "DOID:0111032 MESH:C566557 UMLS:C1865616 OMIM:613313 Orphanet:79230" MONDO:0008442 "Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992." "MESH:C536870 GARD:0004921 UMLS:C1866851 Orphanet:2821 OMIM:182815" -MONDO:0014435 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene." "OMIM:615984 DOID:0110129 MESH:C565916 OMIM:209900 GARD:0010206 UMLS:C1859565 ICD10:Q87.89 EFO:0009026" +MONDO:0014435 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene." "OMIM:615984 DOID:0110129 MESH:C565916 OMIM:209900 GARD:0010206 UMLS:C1859565 EFO:0009026" MONDO:0002381 "A benign or malignant neoplasm arising from the sweat glands." "SCTID:126490003 ICDO:8400/1 UMLS:C0038987 EFO:1001204 NCIT:C3398 ICD9:239.2 MESH:D013544 DOID:2664" MONDO:0002716 "A benign or malignant neoplasm affecting the spinal cord during childhood." "NCIT:C9234 UMLS:C1134515 DOID:3637" NCBITaxon:11308 "GC_ID:1" MONDO:0006237 "A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)" "EFO:1000286 NCIT:C35815" UBERON:0011818 -MONDO:0013212 "Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." "UMLS:C4304671 UMLS:C2750090 GARD:0012429 MESH:C567653 OMIM:613287 DOID:0110177 SCTID:719515001 Orphanet:228174 ICD10:G60.0" +MONDO:0013212 "Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." "UMLS:C4304671 UMLS:C2750090 GARD:0012429 MESH:C567653 OMIM:613287 DOID:0110177 SCTID:719515001 ICD10CM:G60.0 Orphanet:228174" http://identifiers.org/hgnc/10555 -MONDO:0017829 "Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." "Orphanet:314889 UMLS:CN203801 ICD10:N25.8" +MONDO:0017829 "Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." "Orphanet:314889 UMLS:CN203801 ICD10CM:N25.8" UBERON:0005928 UBERON:0012177 UBERON:0006287 -MONDO:0019364 "Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise." "ICD10:A79.8 Orphanet:83316 SCTID:764104003" -MONDO:0021048 "A localized mast cell neoplasm without metastatic potential." "UMLS:C0024897 NCIT:C9303 SCTID:404171008 UMLS:C2242987 NCIT:C3217 ICD10:D47.0 DOID:4658" -MONDO:0019197 "Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." "Orphanet:79097 SCTID:717276003 ICD10:G40.3 UMLS:CN205780" +MONDO:0019364 "Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise." "ICD10CM:A79.8 Orphanet:83316 SCTID:764104003" +MONDO:0021048 "A localized mast cell neoplasm without metastatic potential." "UMLS:C0024897 NCIT:C9303 SCTID:404171008 UMLS:C2242987 NCIT:C3217 DOID:4658" +MONDO:0019197 "Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." "Orphanet:79097 SCTID:717276003 ICD10CM:G40.3 UMLS:CN205780" MONDO:0040501 "OMIM:617821" GO:0001228 "A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II." UBERON:0009881 @@ -17144,17 +17136,17 @@ GO:0055080 "Any process involved in the maintenance of an internal steady state http://identifiers.org/hgnc/11752 ENVO:01001747 MONDO:0000527 "An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." "NCIT:C3864 UMLS:C0850572 DOID:0050912" -MONDO:0017988 "Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic." "ICD9:427.89 Orphanet:3282 HP:0011701 ICD10:I47.1 UMLS:C0221158 SCTID:49982000 GARD:0001235" -MONDO:0014591 "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene." "UMLS:C4225363 OMIM:616331 Orphanet:3107 DOID:0060765 Orphanet:97360 ICD10:Q87.1" +MONDO:0017988 "Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic." "ICD9:427.89 Orphanet:3282 HP:0011701 UMLS:C0221158 SCTID:49982000 ICD10CM:I47.1 GARD:0001235" +MONDO:0014591 "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene." "UMLS:C4225363 OMIM:616331 Orphanet:3107 DOID:0060765 Orphanet:97360" MONDO:0006115 "An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001)." "NCIT:C9110 SCTID:413656006 MESH:D001752 UMLS:C0005699 EFO:1000131" GO:0044283 "The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule." MONDO:0000568 "A hypersensitivity reaction type II disease that involves the central nervous system." "DOID:0060004" MONDO:0019247 -MONDO:0012604 "Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene." "DOID:0060842 ICD10:Q11.0 UMLS:C1970237 Orphanet:2542 OMIM:611038 MESH:C567025" -MONDO:0017909 "Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms." "OMIM:231900 SCTID:234589002 MESH:C536835 Orphanet:32 GARD:0010047 OMIM:266130 NCIT:C128193 UMLS:C0398746 ICD10:D55.1" +MONDO:0012604 "Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene." "DOID:0060842 UMLS:C1970237 Orphanet:2542 OMIM:611038 MESH:C567025" +MONDO:0017909 "Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms." "OMIM:231900 MESH:C536835 SCTID:234589002 ICD10CM:D55.1 Orphanet:32 GARD:0010047 OMIM:266130 NCIT:C128193 UMLS:C0398746" MONDO:0017338 "Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual." "Orphanet:289573 UMLS:CN234684 GARD:0012632 MESH:C565304 UMLS:C3502075 OMIMPS:605711 UMLS:CN202994 SCTID:720827002 DOID:0070330" -MONDO:0007576 "A primary or metastatic malignant neoplasm involving the esophagus." "UMLS:C0546837 UMLS:C0152018 ICD9:150.5 SCTID:363402007 ICD10:C15.5 NCIT:C7478 ICD10:C15.3 SCTID:126817006 UMLS:C0014859 ICD9:150.8 ICD9:150.2 GARD:0006383 Orphanet:70482 ICD10:C15.4 Orphanet:99977 DOID:5041 OMIM:133239 ICD9:150.9 ICD9:150.4 NCIT:C3028 ICD9:150.3" -MONDO:0018081 "Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations." "UMLS:CN204401 MedDRA:10023484 ICD10:A98.5+ Orphanet:340 UMLS:C2930957 MESH:C535630 ICD10:N08.0*" +MONDO:0007576 "A primary or metastatic malignant neoplasm involving the esophagus." "UMLS:C0546837 UMLS:C0152018 ICD9:150.5 SCTID:363402007 NCIT:C7478 SCTID:126817006 UMLS:C0014859 ICD9:150.8 ICD9:150.2 GARD:0006383 Orphanet:70482 Orphanet:99977 DOID:5041 OMIM:133239 ICD9:150.9 ICD9:150.4 NCIT:C3028 ICD9:150.3" +MONDO:0018081 "Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations." "UMLS:CN204401 ICD10EXP:A98.5+ ICD10EXP:N08.0* MedDRA:10023484 Orphanet:340 UMLS:C2930957 MESH:C535630" UBERON:0006286 http://identifiers.org/hgnc/3481 MONDO:0030916 "UMLS:CN671930 DOID:0080233 OMIM:617787" @@ -17164,15 +17156,15 @@ GO:0019184 "The biosynthetic process in which peptide bond formation occurs in t MONDO:0016749 "Orphanet:252057 GARD:0012697 UMLS:CN201996" MONDO:0031011 "OMIM:619264" UBERON:0003526 -MONDO:0013606 "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene." "Orphanet:79430 ICD10:E70.3 Orphanet:280663 OMIM:614171 DOID:0060547 UMLS:C3280026" -MONDO:0000739 "Inflammation of the uvula." "ICD9:528.3 SCTID:300932000 NCIT:C128385 UMLS:C0042174 DOID:0060310 MedDRA:10051962 ICD10:K12.2" +MONDO:0013606 "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene." "Orphanet:79430 Orphanet:280663 OMIM:614171 ICD10CM:E70.3 DOID:0060547 UMLS:C3280026" +MONDO:0000739 "Inflammation of the uvula." "ICD9:528.3 SCTID:300932000 NCIT:C128385 UMLS:C0042174 DOID:0060310 MedDRA:10051962" CL:0000006 UBERON:0005088 -MONDO:0019371 "Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior." "Orphanet:83465 ICD9:347.00 UMLS:C1456240 ICD10:G47.419 EFO:0005855 UMLS:CN206062 SCTID:91521000119104 ICD10:G47.4" -MONDO:0009711 "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur." "GARD:0006161 ICD10:G71.2 UMLS:C0546264 DOID:0080102 OMIM:255310 Orphanet:2020 OMIM:300580 NCIT:C120046" -MONDO:0010243 "X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males." "Orphanet:2571 MESH:C536743 OMIM:300076 ICD10:D82.8 GARD:0000274 SCTID:719827008 UMLS:C1848144" +MONDO:0019371 "Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior." "ICD10CM:G47.419 Orphanet:83465 ICD9:347.00 UMLS:C1456240 EFO:0005855 UMLS:CN206062 ICD10CM:G47.4 SCTID:91521000119104" +MONDO:0009711 "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur." "ICD10CM:G71.2 Orphanet:2020 OMIM:255310 DOID:0080102 UMLS:C0546264 NCIT:C120046 GARD:0006161 OMIM:300580" +MONDO:0010243 "X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males." "Orphanet:2571 MESH:C536743 OMIM:300076 GARD:0000274 ICD10CM:D82.8 SCTID:719827008 UMLS:C1848144" MONDO:0030913 "EFO:0009156 UMLS:CN580791 Orphanet:500159 DOID:0080235 OMIM:617751" -MONDO:0020417 "An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided." "Orphanet:99081 HP:0012020 SCTID:111321007 ICD10:Q25.4 NCIT:C103917 MedDRA:10067407" +MONDO:0020417 "An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided." "Orphanet:99081 ICD10CM:Q25.4 HP:0012020 SCTID:111321007 NCIT:C103917 MedDRA:10067407" UBERON:0012175 MONDO:0007063 "OBSOLETE. A adamantinoma that involves the long bone." UBERON:0002329 @@ -17182,19 +17174,19 @@ http://identifiers.org/hgnc/3482 MONDO:0004755 "Infection of ruminants with tapeworms of the genus Moniezia." "MESH:D008989 EFO:1001372 UMLS:C0026414 DOID:931" MONDO:0002490 "A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma." "DOID:3017 UMLS:C0349667 ONCOTREE:PBS NCIT:C4670 SCTID:278050001" GO:1900542 "Any process that modulates the frequency, rate or extent of purine nucleotide metabolic process." -MONDO:0008127 "Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." "Orphanet:2741 SCTID:715484003 ICD10:Q87.8 UMLS:C1833872 MESH:C563501 GARD:0004365 OMIM:164900" -MONDO:0004765 "An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness." "SCTID:266361008 DOID:9360 UMLS:C0155880 ICD10:J45 ICD9:493.1" +MONDO:0008127 "Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms." "Orphanet:2741 SCTID:715484003 UMLS:C1833872 ICD10CM:Q87.8 MESH:C563501 GARD:0004365 OMIM:164900" +MONDO:0004765 "An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness." "SCTID:266361008 DOID:9360 UMLS:C0155880 ICD10CM:J45 ICD9:493.1" MONDO:0021531 "A fibroma that involves the lung." "UMLS:C1334444 NCIT:C5658 SCTID:707387004" MONDO:0018046 "GARD:0005193 Orphanet:3323 UMLS:C2931364 MESH:C536898" http://identifiers.org/hgnc/11758 MONDO:0005798 "Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings." "MESH:D016263 EFO:0007313 NCIT:C26918 UMLS:C0078911" -MONDO:0002089 "An occlusion of the retinal vasculature." "NCIT:C34980 ICD10:H34.9 ICD10:H34 SCTID:73757007 UMLS:C0035326 ICD9:362.30 ICD9:362.3 DOID:1729" +MONDO:0002089 "An occlusion of the retinal vasculature." "NCIT:C34980 ICD10CM:H34 SCTID:73757007 UMLS:C0035326 ICD9:362.30 ICD9:362.3 DOID:1729" UBERON:0009887 -MONDO:0016705 "Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis." "ICDO:9431/1 ICD10:C71.9 UMLS:C2363903 Orphanet:251671 NCIT:C92552 ONCOTREE:ANGL" +MONDO:0016705 "Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis." "ICDO:9431/1 UMLS:C2363903 Orphanet:251671 NCIT:C92552 ICD10CM:C71.9 ONCOTREE:ANGL" UBERON:0009621 -MONDO:0010374 "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28." "ICD10:H35.5 DOID:0110417 OMIM:300605 GARD:0010390 UMLS:C1845104 MESH:C564475" +MONDO:0010374 "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28." "DOID:0110417 OMIM:300605 GARD:0010390 UMLS:C1845104 MESH:C564475" MONDO:0033671 "OMIM:619094" -MONDO:0019241 "UMLS:C0268517 Orphanet:79196 ICD10:E72.8 SCTID:9128006" +MONDO:0019241 "UMLS:C0268517 Orphanet:79196 ICD10CM:E72.8 SCTID:9128006" UBERON:0005089 MONDO:0017612 "Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." "SCTID:33662006 MESH:D016109 SCTID:79855003 DOID:3209 UMLS:C0079301 Orphanet:305 GARD:0002152 NCIT:C90598" MONDO:0030914 "OMIM:617752 UMLS:C2931130 GARD:0009994 OMIM:300602 UMLS:CN593636 DOID:0080234 MESH:C536208" @@ -17202,15 +17194,15 @@ MONDO:0002509 "Granulomatous inflammation of the testis. It is characterized by GO:0042755 "The specific behavior of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue." UBERON:0002328 http://identifiers.org/hgnc/3483 -MONDO:0011486 "Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation." "Orphanet:98893 SCTID:764944006 ICD10:G71.2 MESH:C565748 DOID:0110634 UMLS:C1858118 OMIM:604801" +MONDO:0011486 "Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation." "Orphanet:98893 SCTID:764944006 MESH:C565748 DOID:0110634 ICD10CM:G71.2 UMLS:C1858118 OMIM:604801" MONDO:0001262 "An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii." "DOID:11315 ICD9:115.10 SCTID:78511005 UMLS:C0220977" MONDO:0006149 "A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion." "NCIT:C65203 EFO:1000181 ICDO:8443/0 UMLS:C1880102" MONDO:0000965 "A rare benign adipose tissue neoplasm of the liver." "NCIT:C5750 UMLS:C1333970 DOID:10190" -MONDO:0024382 "A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors." "SCTID:713498009 ICD10:G47.26" +MONDO:0024382 "A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors." "ICD10CM:G47.26 SCTID:713498009" CL:0000819 "A B cell of distinct lineage and surface marker expression. B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas. These cells are CD43-positive." CL:0000501 "A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors." "FMA:18718 CALOHA:TS-0729 BTO:0000542" UBERON:0007223 -MONDO:0005968 "The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound." "DOID:14484 EFO:0007494 MedDRA:10041736 SCTID:42094007 UMLS:C0038034 Orphanet:826 ICD10:B42.8 ICD9:117.1 ICD10:B42.9 ICD10:B42.0 ICD10:B42 ICD10:B42.7 ICD10:B42.1 MESH:D013174 GARD:0007692" +MONDO:0005968 "The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound." "ICD10CM:B42.7 ICD9:117.1 MESH:D013174 EFO:0007494 Orphanet:826 ICD10CM:B42.8 ICD10CM:B42 ICD10CM:B42.0 SCTID:42094007 MedDRA:10041736 ICD10CM:B42.9 GARD:0007692 DOID:14484 UMLS:C0038034 ICD10CM:B42.1" MONDO:0002647 "An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." "ICD9:464.00 UMLS:C0023067 DOID:3437 SCTID:45913009 MESH:D007827 NCIT:C26811" MONDO:0024291 "A non-neoplastic disorder that is the result of defects of vascular morphogenesis." "MESH:D054079" GO:0003071 "Renal process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure." @@ -17220,7 +17212,7 @@ CL:0000446 "An epithelial cell of the parathyroid gland that is arranged in wide HP:0001328 "Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence." "UMLS:C4025790" MONDO:0030077 "OMIM:618845" UBERON:0008420 -MONDO:0008967 "An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." "Orphanet:79095 UMLS:C3280428 OMIM:214950 ICD10:K76.8 MESH:C535444 DOID:0111068 GARD:0010046 OMIM:614307" +MONDO:0008967 "An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." "Orphanet:79095 UMLS:C3280428 ICD10CM:K76.8 OMIM:214950 MESH:C535444 DOID:0111068 GARD:0010046 OMIM:614307" MONDO:0030911 "OMIM:617601 UMLS:CN371052 DOID:0080237" MONDO:0019244 MONDO:0015549 "Orphanet:158300 UMLS:CN199710" @@ -17234,29 +17226,29 @@ MONDO:0033673 "OMIM:619095" MONDO:0031010 "OMIM:619269" ECTO:9001942 "An exposure to food additive." UBERON:0009885 -MONDO:0007471 "Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner." "ICD10:H35.5 GARD:0001912 UMLS:C1832174 DOID:0060745 Orphanet:75376 SCTID:193411004 UMLS:C1852020 OMIM:126700 OMIM:126600 UMLS:CN205694" +MONDO:0007471 "Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner." "GARD:0001912 UMLS:C1832174 DOID:0060745 Orphanet:75376 SCTID:193411004 UMLS:C1852020 OMIM:126700 ICD10CM:H35.5 OMIM:126600 UMLS:CN205694" GO:0045721 "Any process that stops, prevents, or reduces the frequency, rate or extent of gluconeogenesis." UBERON:0004727 http://identifiers.org/hgnc/2020 CL:2000076 "Any vein endothelial cell that is part of a hindlimb stylopod." GO:0070330 "Catalysis of the reduction of an aliphatic ring to yield an aromatic ring." MONDO:0024990 "Diseases of domestic swine and of the wild boar of the genus Sus." "MESH:D013553 UMLS:C0039006" -MONDO:0001648 "Esophagitis resulting from Candida." "ICD9:112.84 SCTID:20639004 UMLS:C0239295 DOID:13146 ICD10:B37.81 NCIT:C27027" +MONDO:0001648 "Esophagitis resulting from Candida." "ICD9:112.84 SCTID:20639004 UMLS:C0239295 DOID:13146 NCIT:C27027 ICD10CM:B37.81" HP:0001321 "Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time." "MSH:C562568 UMLS:C0266470 SNOMEDCT_US:16026008" MONDO:0030912 "Orphanet:502434 UMLS:CN429988 DOID:0080238 OMIM:617635" -MONDO:0018945 "A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." "HGNC:12811 SCTID:234411007 Orphanet:59306 GARD:0010731 ICD10:G10 ICD9:289.89 OMIM:300842 MESH:C564038" +MONDO:0018945 "A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." "HGNC:12811 ICD10CM:G10 SCTID:234411007 Orphanet:59306 GARD:0010731 ICD9:289.89 OMIM:300842 MESH:C564038" http://identifiers.org/hgnc/16650 UBERON:0012172 MONDO:0015548 "MESH:C580174 SCTID:702376003 UMLS:C3711380 Orphanet:158266 ICD9:333.99" http://identifiers.org/hgnc/14253 -MONDO:0008884 "A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive." "SCTID:722061006 ICD10:Q87.5 GARD:0000992 OMIM:211370 UMLS:C1859385 Orphanet:2713 MESH:C565893" +MONDO:0008884 "A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive." "SCTID:722061006 GARD:0000992 OMIM:211370 ICD10CM:Q87.5 UMLS:C1859385 Orphanet:2713 MESH:C565893" UBERON:0003528 GO:1903779 "Any process that modulates the frequency, rate or extent of cardiac conduction." MONDO:0003739 "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity." "NCIT:C27870 DOID:6025 UMLS:C1335942" UBERON:0003522 CHR:9606-chr18q MONDO:0014338 "UMLS:C4014258 Orphanet:477661 OMIM:615767 Orphanet:238569" -MONDO:0013047 "A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern." "SCTID:237982007 ICD9:271.8 HGNC:6535 MESH:C538133 OMIM:612933 Orphanet:284426 ICD10:E74.0 Orphanet:2364 GARD:0003160" +MONDO:0013047 "A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern." "SCTID:237982007 ICD9:271.8 HGNC:6535 MESH:C538133 OMIM:612933 Orphanet:284426 Orphanet:2364 GARD:0003160 ICD10CM:E74.0" UBERON:0002324 MONDO:0004546 "A neoplasm (disease) that involves the lumbar nerve plexus." "UMLS:C1334437 NCIT:C5824 DOID:8389" NCBITaxon:10379 "GC_ID:1" @@ -17267,8 +17259,8 @@ CHEBI:35406 "An oxoanion is an anion derived from an oxoacid by loss of hydron(s UBERON:0004985 CHEBI:52211 MONDO:0025488 "A neoplastic disease of cats frequently associated with feline leukemia virus infection." "MESH:D016582 UMLS:C0085164" -MONDO:0011428 "Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene." "DOID:0060783 Orphanet:1896 MESH:C565799 ICD10:Q82.4 OMIM:604292 UMLS:C0406704" -MONDO:0003584 "A disease involving the visual cortex." "SCTID:128329001 DOID:5691 UMLS:C0234398 ICD9:377.7 ICD10:H47.6 NCIT:C35275" +MONDO:0011428 "Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene." "DOID:0060783 Orphanet:1896 MESH:C565799 OMIM:604292 UMLS:C0406704" +MONDO:0003584 "A disease involving the visual cortex." "SCTID:128329001 DOID:5691 UMLS:C0234398 ICD9:377.7 ICD10CM:H47.6 NCIT:C35275" UBERON:0003521 GO:0045900 "Any process that stops, prevents, or reduces the frequency, rate or extent of translational elongation." GO:1905155 "Any process that activates or increases the frequency, rate or extent of membrane invagination." @@ -17276,7 +17268,7 @@ CL:0000896 "A recently activated CD4-positive, alpha-beta T cell with the phenot CHR:9606-chr18p GO:0045947 "Any process that stops, prevents, or reduces the frequency, rate or extent of translational initiation." MONDO:0006320 "Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)" "EFO:1000397 NCIT:C8711 UMLS:C1334974" -MONDO:0002209 "A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related." "ICD10:M77.30 UMLS:C0158322 DOID:210 SCTID:55260003 MESH:D036982 ICD9:726.73 ICD10:M77.3" +MONDO:0002209 "A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related." "UMLS:C0158322 ICD10CM:M77.3 DOID:210 SCTID:55260003 MESH:D036982 ICD9:726.73" ECTO:0000258 "An exposure to steroid hormone." MONDO:0021467 "A benign neoplasm that involves the renal pelvis." "ICD9:223.1 UMLS:C0154015 NCIT:C3616 EFO:1000118 SCTID:92319008" CHR:9606-chr16p13.3 @@ -17290,11 +17282,11 @@ MONDO:0021436 UBERON:0004720 UBERON:0004986 MONDO:0030910 "UMLS:CN368509 OMIM:617600 DOID:0080236" -MONDO:0010154 "Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges." "MESH:C564759 GARD:0005277 Orphanet:3368 GARD:0005126 ICD10:Q87.0 UMLS:C1848743 OMIM:275595" +MONDO:0010154 "Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges." "MESH:C564759 GARD:0005277 Orphanet:3368 GARD:0005126 UMLS:C1848743 OMIM:275595 ICD10CM:Q87.0" MONDO:0005982 "A skin infection caused by a fungus." "EFO:0007510 UMLS:C0040247 NCIT:C112181" MONDO:0019287 "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." "Orphanet:79373 DOID:2121 MESH:D004476 GARD:0006317 UMLS:C0013575 NCIT:C84683 ICD9:757.31 SCTID:8654005 MedDRA:10010452 OMIMPS:305100" UBERON:0001125 -MONDO:0008840 "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer." "GARD:0005862 MESH:D001260 OMIM:208910 NCIT:C2887 ICD9:334.8 DOID:12704 ICD10:G11.3 UMLS:C0004135 MedDRA:10003594 SCTID:68504005 Orphanet:100 OMIM:208900" +MONDO:0008840 "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer." "GARD:0005862 ICD10CM:G11.3 MESH:D001260 OMIM:208910 NCIT:C2887 ICD9:334.8 DOID:12704 UMLS:C0004135 MedDRA:10003594 SCTID:68504005 Orphanet:100 OMIM:208900" GO:0070838 GO:0030216 "The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte." MONDO:0013307 "Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene." "Orphanet:2598 UMLS:C3150802 DOID:0111186 OMIM:613561" @@ -17311,10 +17303,10 @@ MONDO:0022633 "MESH:C537969" http://identifiers.org/hgnc/29843 UBERON:0004987 HP:0004381 "A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow." "MSH:D021921 Fyler:1430 UMLS:C0003499 SNOMEDCT_US:268185002" -MONDO:0016760 "Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait." "Orphanet:2528 GARD:0003627 ICD10:Q87.8 SCTID:715464002 MESH:C537539" +MONDO:0016760 "Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait." "Orphanet:2528 GARD:0003627 ICD10CM:Q87.8 SCTID:715464002 MESH:C537539" MONDO:0030073 "OMIM:618960" NCBITaxon:46580 "GC_ID:1" -MONDO:0019868 "Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia." "SCTID:764461004 Orphanet:96063 MESH:C538292 UMLS:CN035866 ICD10:Q92.1 GARD:0005406" +MONDO:0019868 "Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia." "ICD10CM:Q92.1 SCTID:764461004 Orphanet:96063 MESH:C538292 UMLS:CN035866 GARD:0005406" CHEBI:35552 MONDO:0022898 "GARD:0001600" MONDO:0002207 "An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei." "DOID:2097 ICD9:233.39 UMLS:C1275217 NCIT:C4027 SCTID:254898001" @@ -17324,37 +17316,37 @@ BFO:0000004 "A continuant that is a bearer of quality and realizable entity enti BFO:0000004 "A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything." MONDO:0014888 "An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy." "GARD:0013108 NCIT:C147530 UMLS:C4284088 OMIM:617053 Orphanet:494433" MONDO:0006398 "A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." "NCIT:C39741 EFO:1000510 UMLS:C1514921" -MONDO:0016333 "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure." "GARD:0000221 Orphanet:217607 OMIMPS:115200 ICD10:I42.0 Orphanet:217604 UMLS:C0340427 GARD:0002905 MESH:C536231" -MONDO:0017817 "Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." "Orphanet:314709 ICD10:E85.4" +MONDO:0016333 "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure." "GARD:0000221 Orphanet:217607 ICD10CM:I42.0 OMIMPS:115200 Orphanet:217604 UMLS:C0340427 GARD:0002905 MESH:C536231" +MONDO:0017817 "Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." "Orphanet:314709" MONDO:0005951 ENVO:01001069 "A material which is composed primarily of one or more pure metals and which shows their properties." UBERON:0002325 UBERON:0005087 -MONDO:0020415 "Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture." "Orphanet:99077 ICD10:Q25.4 SCTID:74561007" +MONDO:0020415 "Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture." "Orphanet:99077 ICD10CM:Q25.4 SCTID:74561007" UBERON:0012180 MONDO:0021434 HP:0003076 "An increased concentration of glucose in the urine." "MSH:D006029 UMLS:C0017979 SNOMEDCT_US:45154002" -MONDO:0004753 "ICD9:378.6 ICD10:H50.60 UMLS:C0152223 ICD10:H50.6 DOID:9306 ICD9:378.60 SCTID:5371001" +MONDO:0004753 "ICD9:378.6 UMLS:C0152223 ICD10CM:H50.6 DOID:9306 ICD9:378.60 SCTID:5371001" UBERON:0004988 MONDO:0018132 "OBSOLETE. Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy." "GARD:0012588 DOID:0111229 Orphanet:352687" -MONDO:0011389 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3." "ICD10:H90.3 MESH:C565832 UMLS:C1858916 OMIM:603964 DOID:0110547" -MONDO:0009034 "Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus." "OMIM:218350 Orphanet:1516 MESH:C536455 GARD:0001575 ICD10:Q87.0 UMLS:C1857511" +MONDO:0011389 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3." "MESH:C565832 UMLS:C1858916 OMIM:603964 DOID:0110547" +MONDO:0009034 "Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus." "OMIM:218350 Orphanet:1516 MESH:C536455 GARD:0001575 ICD10CM:Q87.0 UMLS:C1857511" NCBITaxon:11577 "GC_ID:1" -MONDO:0017837 "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992." "UMLS:CN203814 ICD10:G37.8 Orphanet:3151" +MONDO:0017837 "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992." "UMLS:CN203814 Orphanet:3151 ICD10CM:G37.8" GO:0004557 "Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase." -MONDO:0019354 "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases)." "Orphanet:828 OMIM:614284 ICD9:759.89 ICD10:Q87.0 MESH:C537492 GARD:0010782 OMIM:609508 OMIM:108300 OMIM:614134 DOID:0080046 OMIM:184840 OMIM:604841 MedDRA:10063402 UMLS:C0265253 OMIMPS:108300 NCIT:C74984 SCTID:78675000" +MONDO:0019354 "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases)." "Orphanet:828 OMIM:614284 ICD9:759.89 MESH:C537492 GARD:0010782 OMIM:609508 OMIM:108300 OMIM:614134 DOID:0080046 OMIM:184840 OMIM:604841 MedDRA:10063402 UMLS:C0265253 ICD10CM:Q87.0 OMIMPS:108300 NCIT:C74984 SCTID:78675000" MONDO:0030074 "OMIM:618961" HsapDv:0000092 "Late adulthood that refers to an adult who is over 45 and under 65." MONDO:0004996 "Acute myeloid leukemia occurring in childhood." "NCIT:C9160 DOID:0070323 UMLS:C0220621 ICDO:M9861/3 EFO:0000330" -MONDO:0012683 "Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." "ICD10:Q04.3 OMIM:611523 MESH:C548074 GARD:0010710 UMLS:C1969084 Orphanet:166073 SCTID:718606005 DOID:0060275" -MONDO:0004673 "A malignant neoplasm involving the lower lip." "DOID:8883 UMLS:C0432520 ICD9:140.1 SCTID:363373004 ICD10:C00.1" +MONDO:0012683 "Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." "ICD10CM:Q04.3 OMIM:611523 MESH:C548074 GARD:0010710 UMLS:C1969084 Orphanet:166073 SCTID:718606005 DOID:0060275" +MONDO:0004673 "A malignant neoplasm involving the lower lip." "DOID:8883 UMLS:C0432520 ICD9:140.1 SCTID:363373004" MONDO:0013576 "Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." "Orphanet:183675 OMIM:614102 MESH:C564131 UMLS:C3279824" GO:0045260 "A proton-transporting ATP synthase complex found in the plasma membrane. Examples of this component are found in Bacterial species." -MONDO:0000827 "Infections with bacteria of the genus salmonella." "EFO:1001418 ICD10:A02.9 ICD10:A02.8 ICD9:003.0 ICD9:003.9 ICD9:003.8 ICD10:A01.4 ICD10:A01.3 DOID:0060859 UMLS:C0036117 MedDRA:10039447 MESH:D012480 Orphanet:795 ICD10:A02.1 ICD10:A02.0 SCTID:302231008 ICD10:A01.0 ICD10:A02.2 ICD10:A01.2 UMLS:CN205993 ICD10:A01.1" +MONDO:0000827 "Infections with bacteria of the genus salmonella." "EFO:1001418 ICD9:003.0 ICD10CM:A02.1 ICD10CM:A01.3 ICD10CM:A02.0 ICD9:003.9 ICD9:003.8 DOID:0060859 ICD10CM:A02.9 ICD10CM:A02.8 UMLS:C0036117 MedDRA:10039447 MESH:D012480 ICD10CM:A01.0 Orphanet:795 SCTID:302231008 ICD10CM:A02.2 ICD10CM:A01.4 ICD10CM:A01.2 ICD10CM:A01.1 UMLS:CN205993" http://identifiers.org/hgnc/28648 CL:0000170 "A cell that secretes glucagon." "FMA:84045" UBERON:0005080 -MONDO:0007130 "Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure." "Orphanet:99125 UMLS:C0036400 NCIT:C85056 SCTID:111323005 MESH:D012587 SCTID:39905002 ICD10:Q26.8 OMIM:106700 ICD10:Q26.2 NCIT:C98585 EFO:1001167 ICD9:747.41 DOID:4297" +MONDO:0007130 "Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure." "Orphanet:99125 UMLS:C0036400 NCIT:C85056 SCTID:111323005 MESH:D012587 SCTID:39905002 OMIM:106700 NCIT:C98585 EFO:1001167 ICD9:747.41 DOID:4297" UBERON:0006285 HP:0000112 "A nonspecific term referring to disease or damage of the kidneys." "SNOMEDCT_US:90708001 UMLS:C0022658 UMLS:C1408258 MSH:D007674" MONDO:0030071 "OMIM:618955" @@ -17363,65 +17355,65 @@ MONDO:0020237 "Orphanet:98655" http://identifiers.org/hgnc/1090 SO:0001411 "A region defined by its disposition to be involved in a biological process." MONDO:0003552 -MONDO:0001155 "UMLS:C0156047 UMLS:C0156050 UMLS:C0156048 UMLS:C0156042 ICD9:534.0 UMLS:C0156044 UMLS:C0156045 SCTID:4269005 ICD10:K28.0 DOID:10927" -MONDO:0001956 "A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure." "MESH:D019559 DOID:14400 UMLS:C0343084 Orphanet:188 ICD10:I78.8 NCIT:C62578 GARD:0001084 ICD9:448.9 MedDRA:10007196 SCTID:87730004" +MONDO:0001155 "UMLS:C0156047 UMLS:C0156050 UMLS:C0156048 UMLS:C0156042 ICD10CM:K28.0 ICD9:534.0 UMLS:C0156044 UMLS:C0156045 SCTID:4269005 DOID:10927" +MONDO:0001956 "A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure." "MESH:D019559 DOID:14400 UMLS:C0343084 Orphanet:188 ICD10CM:I78.8 NCIT:C62578 GARD:0001084 ICD9:448.9 MedDRA:10007196 SCTID:87730004" GO:0051885 "Any process that activates or increases the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle." UBERON:0004982 UBERON:0005081 MONDO:0022639 "GARD:0001082" -MONDO:0005709 "An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain." "ICD10:J00 UMLS:C0009443 SCTID:82272006 MESH:D003139 ICD9:460 EFO:0007214 DOID:10459 NCIT:C34500" +MONDO:0005709 "An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain." "UMLS:C0009443 SCTID:82272006 MESH:D003139 ICD9:460 EFO:0007214 DOID:10459 NCIT:C34500" MONDO:0040675 "A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma." "NCIT:C49012 ICDO:8825/0" -MONDO:0009303 "An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide." "OMIM:233450 ICD9:446.21 MESH:D019867 ICD10:M31.0 DOID:9808 MedDRA:10018620 GARD:0002551 NCIT:C84566 Orphanet:375 ICD10:M31.0+ ICD10:N08.5* UMLS:C0403529 EFO:0007290 SCTID:236432001" +MONDO:0009303 "An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide." "OMIM:233450 ICD9:446.21 MESH:D019867 ICD10EXP:M31.0+ DOID:9808 MedDRA:10018620 GARD:0002551 NCIT:C84566 Orphanet:375 ICD10EXP:N08.5* UMLS:C0403529 EFO:0007290 SCTID:236432001" MONDO:0100087 "A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner." MONDO:0003459 "A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements." "DOID:5476 UMLS:C1516402 NCIT:C40230" -MONDO:0019969 "Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good." "UMLS:CN206896 Orphanet:97336 ICD10:M92.0" +MONDO:0019969 "Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good." "UMLS:CN206896 Orphanet:97336 ICD10CM:M92.0" UBERON:0006284 MONDO:0020238 "Orphanet:98657 UMLS:CN207063" MONDO:0030072 "OMIM:618959" UBERON:0003520 MONDO:0003045 "Tumors or cancer of the anal gland." "DOID:4550 MESH:D000694 EFO:1000804 UMLS:C0002757" -MONDO:0008850 "Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive." "ICD10:Q87.8 OMIM:209770 SCTID:720748007 Orphanet:1488 MESH:C565923" -MONDO:0011400 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene." "OMIM:604145 ICD10:I42.0 UMLS:C1858763 MESH:C565824 DOID:0110430" -MONDO:0011123 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21." "UMLS:C1866519 ICD10:E10 OMIM:601666 DOID:0110753 MESH:C566645" +MONDO:0008850 "Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive." "ICD10CM:Q87.8 OMIM:209770 SCTID:720748007 Orphanet:1488 MESH:C565923" +MONDO:0011400 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene." "OMIM:604145 UMLS:C1858763 MESH:C565824 DOID:0110430 ICD10CM:I42.0" +MONDO:0011123 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21." "UMLS:C1866519 OMIM:601666 DOID:0110753 MESH:C566645" MONDO:0000351 "An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process." "HP:0003235 UMLS:C4048705 DOID:0050544 SCTID:43123004" -MONDO:0020250 "An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss." "MESH:D029241 UMLS:C0338508 ICD10:H47.2 Orphanet:98672 NCIT:C84577 GARD:0011972 SCTID:2065009" +MONDO:0020250 "An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss." "MESH:D029241 UMLS:C0338508 ICD10CM:H47.2 Orphanet:98672 NCIT:C84577 GARD:0011972 SCTID:2065009" http://identifiers.org/hgnc/2291 UBERON:0005082 UBERON:0004983 -MONDO:0011104 "Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene." "Orphanet:1377 Orphanet:98985 Orphanet:98989 Orphanet:98994 Orphanet:91492 UMLS:C1832175 Orphanet:98991 ICD10:Q12.0 MESH:C563294 OMIM:601547 DOID:0110269" -MONDO:0014198 "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene." "UMLS:C3809592 SCTID:765403009 ICD10:E88.8 DOID:0080131 GARD:0013298 Orphanet:369897 OMIM:615471" +MONDO:0011104 "Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene." "Orphanet:1377 Orphanet:98985 Orphanet:98989 Orphanet:98994 Orphanet:91492 UMLS:C1832175 Orphanet:98991 MESH:C563294 OMIM:601547 DOID:0110269" +MONDO:0014198 "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene." "UMLS:C3809592 SCTID:765403009 DOID:0080131 ICD10CM:E88.8 GARD:0013298 Orphanet:369897 OMIM:615471" NCIT:C25218 MONDO:0012694 "Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene." "MESH:C566916 UMLS:C1969053 OMIM:611560 DOID:0111002 Orphanet:220497" -MONDO:0005090 "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." "ICD9:295.9 ICD9:295 Orphanet:3140 NCIT:C3362 DOID:5419 NIFSTD:birnlex_2104 EFO:0000692 HP:0100753 SCTID:58214004 ICD9:295.85 ICD9:295.8 OMIM:181500 ICD9:295.90 ICD9:295.80" +MONDO:0005090 "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." "ICD9:295.9 ICD9:295 Orphanet:3140 ICD10CM:F20-F29 NCIT:C3362 DOID:5419 NIFSTD:birnlex_2104 EFO:0000692 HP:0100753 SCTID:58214004 ICD9:295.85 ICD9:295.8 OMIM:181500 ICD9:295.90 ICD9:295.80" CL:0000104 "Neuron with an axon and two or more dendrites." "FMA:67287" -MONDO:0012055 "Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia." "OMIM:608545 Orphanet:2370 UMLS:C1837884 MESH:C563914 ICD10:Q74.8" +MONDO:0012055 "Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia." "OMIM:608545 Orphanet:2370 UMLS:C1837884 MESH:C563914 ICD10CM:Q74.8" MONDO:0014178 "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene." "OMIM:615422 Orphanet:52430 UMLS:C3809468 DOID:0111384" UBERON:0006283 -MONDO:0016911 "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13." "GARD:0001738 ICD10:Q93.5 NCIT:C36497 Orphanet:262101 MESH:C535449" +MONDO:0016911 "A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13." "GARD:0001738 NCIT:C36497 Orphanet:262101 ICD10CM:Q93.5 MESH:C535449" http://identifiers.org/hgnc/1093 MONDO:0020239 ECTO:9001711 "An exposure to antiinfective agent." CHEBI:33281 "A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans." MONDO:0044206 "Orphanet:1427 OMIM:215150" MONDO:0004100 "A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma." "UMLS:C1334788 NCIT:C9423 DOID:7081" -MONDO:0017244 "Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering." "Orphanet:280794 ICD10:Q82.2" +MONDO:0017244 "Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering." "Orphanet:280794 ICD10CM:Q82.2" CHEBI:76740 "An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases), EC 1.13.*.*." GO:0006790 "The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione." MONDO:0003724 "Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia." "UMLS:C1332628 NCIT:C6943 DOID:5997" -MONDO:0002206 "A malignant neoplasm that affects the sweat glands." "NCIT:C4810 ICD10:C44 DOID:2095 UMLS:C1321904" +MONDO:0002206 "A malignant neoplasm that affects the sweat glands." "NCIT:C4810 DOID:2095 UMLS:C1321904" MONDO:0021044 "OBSOLETE. An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." -MONDO:0007410 "Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant." "ICD10:Q11.2 MESH:C565138 Orphanet:91396 OMIM:123570 SCTID:718691008 DOID:0111717 UMLS:C1852453" +MONDO:0007410 "Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant." "MESH:C565138 Orphanet:91396 OMIM:123570 ICD10CM:Q11.2 SCTID:718691008 DOID:0111717 UMLS:C1852453" NCBITaxon:10116 "GC_ID:1" GO:0100020 "OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates transport." GO:0016746 "Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor)." -MONDO:0009291 "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." "MedDRA:10053250 MESH:D006010 ICD10:E74.03 UMLS:C0017922 DOID:2748 Orphanet:366 ICD10:E74.0 UMLS:CN204781 GARD:0009442 SCTID:66937008 NCIT:C84736 UMLS:C1968741 OMIM:232400" +MONDO:0009291 "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." "ICD10CM:E74.0 MedDRA:10053250 MESH:D006010 UMLS:C0017922 DOID:2748 Orphanet:366 UMLS:CN204781 GARD:0009442 SCTID:66937008 NCIT:C84736 UMLS:C1968741 OMIM:232400" CL:0002303 "A ciliated epithelial cell of the retina, this cell type uptakes sodium chloride and passes it to non-pigmented ciliary epithelial cells." "FMA:70606" MONDO:0011720 "Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene." "DOID:0070168 Orphanet:276234 UMLS:C1847540 OMIM:606766 MESH:C564665" UBERON:0004984 HP:0002503 "UMLS:C1866751" -MONDO:0019470 "A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen." "ONCOTREE:ANKL ICD10:C94.8 ICDO:9948/3 DOID:1035 NCIT:C8647 UMLS:C1292777 MedDRA:10028811 Orphanet:86873 UMLS:C1522378 ICD10:C94.7 GARD:0010493 SCTID:721310007" +MONDO:0019470 "A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen." "ONCOTREE:ANKL ICDO:9948/3 DOID:1035 NCIT:C8647 UMLS:C1292777 MedDRA:10028811 Orphanet:86873 UMLS:C1522378 GARD:0010493 SCTID:721310007" MONDO:0030070 "OMIM:618948" -MONDO:0007001 "Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus." "MedDRA:10066862 EFO:1001218 ICD10:Q22.8 UMLS:C0040962 MESH:D014263 Orphanet:95458 HP:0001704 SCTID:253383003 DOID:5644" +MONDO:0007001 "Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus." "MedDRA:10066862 EFO:1001218 ICD10CM:Q22.8 UMLS:C0040962 MESH:D014263 Orphanet:95458 HP:0001704 SCTID:253383003 DOID:5644" http://identifiers.org/hgnc/1092 MONDO:0013139 "Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene." "Orphanet:486 OMIM:613107 UMLS:C2751288 MESH:C567748" MONDO:0010128 "Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait." "UMLS:C1848813 MESH:C536908 GARD:0005203 UMLS:C4518579 SCTID:733096007 OMIM:274240 Orphanet:3327" @@ -17430,27 +17422,27 @@ MONDO:0005958 MONDO:0020498 http://identifiers.org/hgnc/19165 MONDO:0020232 "UMLS:CN207060 Orphanet:98648" -MONDO:0004812 "Acute form of dacryoadenitis." "DOID:952 ICD10:H04.01 SCTID:2589008 ICD9:375.01 UMLS:C0149505" +MONDO:0004812 "Acute form of dacryoadenitis." "DOID:952 SCTID:2589008 ICD9:375.01 UMLS:C0149505" MONDO:0022893 "GARD:0001587" GO:0045910 "Any process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination." GO:2001257 "Any process that modulates the frequency, rate or extent of cation channel activity." MONDO:0003515 "A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally." "DOID:5564 UMLS:C1517127 NCIT:C40131" GO:0015870 "The directed movement of acetylcholine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Acetylcholine is an acetic acid ester of the organic base choline and functions as a neurotransmitter, released at the synapses of parasympathetic nerves and at neuromuscular junctions." MONDO:0003907 "A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues." "NCIT:C39987 UMLS:C1518749 DOID:6514" -MONDO:0007879 "A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation." "Orphanet:1202 ICD10:Q31.8 GARD:0003194 MESH:C563637 UMLS:C0265756 SCTID:64981002 GARD:0003192 OMIM:150300 NCIT:C98972 ICD9:748.3" +MONDO:0007879 "A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation." "Orphanet:1202 GARD:0003194 MESH:C563637 UMLS:C0265756 SCTID:64981002 GARD:0003192 OMIM:150300 NCIT:C98972 ICD9:748.3 ICD10CM:Q31.8" MONDO:0014330 "UMLS:C3810402 OMIM:615749" MONDO:0014596 "OMIM:616342 UMLS:C4225359" MONDO:0044753 "A spinal stenosis that involves the lumbar region of vertebral column." "SCTID:18347007 UMLS:C0158288 ICD9:724.02 HP:0004610" CHEBI:29340 "A divalent inorganic anion resulting from the removal of two protons from ammonia." UBERON:0001384 HP:0010932 "An abnormality of a nucleobase metabolic process." "UMLS:C4020762 UMLS:C4023643" -MONDO:0011351 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." "OMIM:603629 ICD10:H90.3 UMLS:C1863655 MESH:C566353 DOID:0110479 Orphanet:90636" +MONDO:0011351 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." "OMIM:603629 UMLS:C1863655 MESH:C566353 DOID:0110479 Orphanet:90636" MONDO:0003928 "A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma." "DOID:6567 ONCOTREE:UMLMS UMLS:C1519861 NCIT:C40175" ENVO:01001023 "A process during which energy is emitted or transmitted in the form of waves or particles through space or a material medium." GO:0001960 "Any process that stops, prevents, or reduces the frequency, rate or extent of the cytokine mediated signaling pathway." HP:0032368 "An abnormally low blood pH (usually defined as less than 7.35)." MONDO:0044204 "OMIM:260400 Orphanet:811" -MONDO:0006583 "Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring." "Wikipedia:Necrobiosis_lipoidica EFO:1000738 Orphanet:542592 GARD:0013040 DOID:3486 NCIT:C34840 SCTID:9418005 UMLS:C0027538 MESH:D009335 ICD10:L92.1" +MONDO:0006583 "Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring." "Wikipedia:Necrobiosis_lipoidica EFO:1000738 Orphanet:542592 GARD:0013040 DOID:3486 NCIT:C34840 SCTID:9418005 UMLS:C0027538 MESH:D009335" MONDO:0013545 "Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene." "UMLS:C3279695 Orphanet:334 OMIM:614050" GO:1902680 "Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process." MONDO:0020009 "OBSOLETE. Rare nervous system disease." "Orphanet:98006 UMLS:CN206943" @@ -17459,8 +17451,8 @@ MONDO:0004882 "A angioid streaks that involves the optic choroid." "SCTID:861030 GO:1904747 "Any process that activates or increases the frequency, rate or extent of apoptotic process involved in development." MONDO:0022892 "GARD:0001586" MONDO:0007255 -MONDO:0001901 "A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria." "SCTID:190981001 MESH:D017099 ICD9:279.03 ICD10:D80.3 DOID:14176 NCIT:C27024" -MONDO:0011961 "Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." "UMLS:C1842586 MESH:C564296 DOID:0070148 SCTID:717825008 PMID:12870133 PMID:16311270 OMIM:608088 ICD10:G60.8 Orphanet:139564 UMLS:C4303567" +MONDO:0001901 "A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria." "SCTID:190981001 MESH:D017099 ICD9:279.03 DOID:14176 NCIT:C27024" +MONDO:0011961 "Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)." "UMLS:C1842586 MESH:C564296 DOID:0070148 SCTID:717825008 PMID:12870133 PMID:16311270 OMIM:608088 Orphanet:139564 UMLS:C4303567 ICD10CM:G60.8" MONDO:0006317 "A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma." "MESH:D018321 NCIT:C7018 EFO:1000394 UMLS:C0206730 ICDO:9562/0" HP:0011400 "An abnormality of myelination of nerves in the central nervous system." "UMLS:C4021152" MONDO:0042908 "GARD:0000248" @@ -17470,12 +17462,12 @@ MONDO:0022643 "A carcinoma that involves the laryngeal vocal fold." "GARD:000599 GO:1901213 "Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter that contributes to the development of the heart over time." MONDO:0004759 "ICD9:302.1 DOID:9336 SCTID:81463002" UBERON:0001383 -MONDO:0008410 "A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood." "OMIM:181440 Orphanet:3135 DOID:13300 ICD10:M42.0 NCIT:C34999 UMLS:C0036310 SCTID:53406005 GARD:0007610 ICD9:732.0 EFO:0008576 ICD10:M42.00" +MONDO:0008410 "A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood." "OMIM:181440 Orphanet:3135 DOID:13300 NCIT:C34999 ICD10CM:M42.0 UMLS:C0036310 SCTID:53406005 GARD:0007610 ICD9:732.0 EFO:0008576" NCBITaxon:10372 "GC_ID:1" MONDO:0006057 -MONDO:0015466 "Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." "UMLS:C1531773 UMLS:CN199601 ICD10:M89.4 Orphanet:1525 SCTID:720753002 GARD:0001564 OMIM:259100" +MONDO:0015466 "Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." "ICD10CM:M89.4 UMLS:C1531773 UMLS:CN199601 Orphanet:1525 SCTID:720753002 GARD:0001564 OMIM:259100" GO:0070613 "Any process that modulates the frequency, rate or extent of protein processing, a protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein." -MONDO:0015944 "Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula." "SCTID:765755006 ICD10:Q87.8 GARD:0000213 UMLS:C2931613 Orphanet:1834 MESH:C537790" +MONDO:0015944 "Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula." "SCTID:765755006 ICD10CM:Q87.8 GARD:0000213 UMLS:C2931613 Orphanet:1834 MESH:C537790" GO:0032879 "Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location." http://identifiers.org/hgnc/3229 MONDO:0013133 "Orphanet:618 OMIM:613099" @@ -17487,13 +17479,13 @@ CHEBI:57756 "The cationic sphingoid resulting from the protonation of the amino MONDO:0022891 "GARD:0001598" CHEBI:30768 "A short-chain saturated fatty acid comprising ethane attached to the carbon of a carboxy group." GO:1903028 "Any process that activates or increases the frequency, rate or extent of opsonization." -MONDO:0014332 "UMLS:C3810404 GARD:0013201 ICD10:E74.8 OMIM:615751 SCTID:764456001 Orphanet:401948" +MONDO:0014332 "ICD10CM:E74.8 UMLS:C3810404 GARD:0013201 OMIM:615751 SCTID:764456001 Orphanet:401948" GO:0050905 "Any process pertaining to the functions of the nervous and muscular systems of an organism." http://identifiers.org/hgnc/4428 UBERON:0009618 UBERON:0001120 CL:1000600 "KUPO:0001115" -MONDO:0003544 "A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma." "NCIT:C3381 ICD9:192.2 SCTID:363475005 ICD10:C72.0 UMLS:C0037930 DOID:5612 NCIT:C3572 UMLS:C0153646" +MONDO:0003544 "A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma." "NCIT:C3381 ICD9:192.2 ICD10CM:C72.0 SCTID:363475005 UMLS:C0037930 DOID:5612 NCIT:C3572 UMLS:C0153646" UBERON:0010881 NCBITaxon:41687 "GC_ID:1" MONDO:0007257 "UMLS:C2751429 OMIM:114580 MESH:C567779" @@ -17501,22 +17493,22 @@ HP:0100491 "UMLS:C4020971" MONDO:0020235 "Orphanet:98652" GO:0061035 "Any process that modulates the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate." MONDO:0022890 "GARD:0001595" -MONDO:0010478 "SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum)." "ICD10:E77.8 UMLS:C3806688 DOID:0070265 Orphanet:356961 OMIM:300896 GARD:0012403" +MONDO:0010478 "SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum)." "UMLS:C3806688 DOID:0070265 Orphanet:356961 ICD10CM:E77.8 OMIM:300896 GARD:0012403" MONDO:0005145 "Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history." "OMIM:608030 OMIM:105400 EFO:0001357" MONDO:0019268 "A skin disease that involves the epidermis." "Orphanet:79353 UMLS:CN205920" MONDO:0014333 "OMIM:615752 Orphanet:268940 Orphanet:98889 UMLS:C3810405" NCBITaxon:236781 "GC_ID:1" UBERON:0010882 CL:1000601 "KUPO:0001116" -MONDO:0013911 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene." "DOID:0090085 ICD10:E23.0 UMLS:C3553842 OMIM:614838" +MONDO:0013911 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene." "DOID:0090085 UMLS:C3553842 OMIM:614838" http://identifiers.org/hgnc/288 http://identifiers.org/hgnc/9580 MONDO:0035362 "Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene." "Orphanet:597201" MONDO:0000301 "An myiasis caused by infection with Oestrus ovis." "DOID:0050268 SCTID:48216006 UMLS:C0027034" GO:1902572 "Any process that stops, prevents or reduces the frequency, rate or extent of serine-type peptidase activity." -MONDO:0004804 "Inflammation and enlargement of the lacrimal gland." "SCTID:86927009 ICD9:375.00 MESH:D003607 DOID:950 ICD10:H04.00 ICD9:375.0 ICD10:H04.0 NCIT:C26971 UMLS:C0155223" +MONDO:0004804 "Inflammation and enlargement of the lacrimal gland." "SCTID:86927009 ICD9:375.00 MESH:D003607 DOID:950 ICD9:375.0 NCIT:C26971 UMLS:C0155223" MONDO:0100428 "A progressive bulbar palsy of childhood that occurs during childhood." "Orphanet:56965 OMIM:211500 DOID:0080632 UMLS:C0393540 SCTID:230246005" -MONDO:0700089 "Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene." "OMIM:118800 DOID:0090049 OMIM:611147 ICD10:G24.8 MedDRA:10065657 Orphanet:98810 MedDRA:10065658 GARD:0008722" +MONDO:0700089 "Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene." "OMIM:118800 DOID:0090049 ICD10CM:G24.8 OMIM:611147 MedDRA:10065657 Orphanet:98810 MedDRA:10065658 GARD:0008722" MONDO:0043287 "Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache." "GARD:0009264 SCTID:63363004 NCIT:C3396 MESH:D013479" MONDO:0012522 "Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene." "SCTID:609581006 OMIM:610582 Orphanet:99886" UBERON:0004980 @@ -17524,9 +17516,9 @@ MONDO:0037870 "A disease that has its basis in the disruption of valine metaboli MONDO:0044333 "A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues." "NCIT:C34366" MONDO:0003559 MONDO:0022897 "GARD:0001593" -MONDO:0014334 "UMLS:C4014233 ICD10:D81.1 OMIM:615758 Orphanet:280142" +MONDO:0014334 "ICD10CM:D81.1 UMLS:C4014233 OMIM:615758 Orphanet:280142" CL:0002073 "Specialized cardiac myocyte which is in the internodal tract and atrioventricular node. The cell is more slender than ordinary atrial myocytes and has more myofibrils than nodal myocytes." "FMA:67142" -MONDO:0044201 "ICD10:D81.2 Orphanet:397802" +MONDO:0044201 "Orphanet:397802" MONDO:0024193 "OMIMPS:617068" NCBITaxon:11572 "GC_ID:1" NCBITaxon:10375 "GC_ID:1" @@ -17534,7 +17526,7 @@ CHEBI:38337 "A pyrimidine carrying one or more oxo substituents." PATO:0002301 "A quality that has a value that is decreased compared to normal or average." UBERON:0010883 HP:0100806 "Systemic inflammatory response to infection." "MSH:D018805 UMLS:C0036690" -MONDO:0018997 "Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects." "OMIM:613706 MESH:D009634 OMIM:610733 OMIM:163950 ICD9:759.89 Orphanet:648 OMIMPS:163950 NCIT:C75459 OMIM:615355 OMIM:616564 DOID:3490 OMIM:613224 UMLS:C0028326 SCTID:205824006 MedDRA:10029748 OMIM:605275 OMIM:616559 GARD:0010955 OMIM:609942 NCIT:C34854 ICD10:Q87.1 OMIM:611553" +MONDO:0018997 "Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects." "OMIM:613706 MESH:D009634 OMIM:610733 OMIM:163950 ICD9:759.89 Orphanet:648 OMIMPS:163950 NCIT:C75459 OMIM:615355 OMIM:616564 DOID:3490 OMIM:613224 UMLS:C0028326 SCTID:205824006 ICD10CM:Q87.1 MedDRA:10029748 OMIM:605275 OMIM:616559 GARD:0010955 OMIM:609942 NCIT:C34854 OMIM:611553" MONDO:0021433 MONDO:0008455 "MESH:C566670 UMLS:C1866774 OMIM:183020" MONDO:0005111 "An infection that is caused by Epstein-Barr virus." "EFO:0000769 UMLS:C0149678 MESH:D020031 NCIT:C38759" @@ -17543,7 +17535,7 @@ ECTO:4000003 "A exposure event involving the interaction of an exposure receptor CL:0002013 "A basophilic erythroblast that is GlyA-positive." MONDO:0022896 "GARD:0001591" GO:0045444 "The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat." -MONDO:0014335 "ICD10:G98 UMLS:C4014239 Orphanet:404437 OMIM:615760" +MONDO:0014335 "UMLS:C4014239 Orphanet:404437 OMIM:615760 ICD10CM:G98" NCBITaxon:11571 MONDO:0003945 "A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells." "UMLS:C1332575 UMLS:C1332578 NCIT:C5396 EFO:1000132 DOID:6610" NCBITaxon:10376 "GC_ID:1" @@ -17559,13 +17551,13 @@ MONDO:0044744 "A condition characterized by the congenital or acquired deficienc MONDO:0021935 "A infectious disease involving the Aspergillus niger." "GARD:0009716 MESH:C535390" SO:0001235 "A region containing at least one unique origin of replication and a unique termination site." GO:0010950 "Any process that increases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins." -MONDO:0019582 "Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness." "Orphanet:90397 ICD10:L98.5" -MONDO:0014336 "ICD10:Q87.0 DOID:0070053 OMIM:615761 UMLS:C3810406 Orphanet:404440" +MONDO:0019582 "Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness." "Orphanet:90397 ICD10CM:L98.5" +MONDO:0014336 "ICD10CM:Q87.0 DOID:0070053 OMIM:615761 UMLS:C3810406 Orphanet:404440" MONDO:0022895 "GARD:0001590" -MONDO:0021084 "Any impairment to the vision." "NCIT:C35126 MESH:D014786 SCTID:95677002 UMLS:C0042790" +MONDO:0021084 "Any impairment to the vision." "NCIT:C35126 MESH:D014786 SCTID:95677002 UMLS:C0042790 ICD10CM:H53-H54" MONDO:0020230 "UMLS:CN207058 Orphanet:98646" MONDO:0009651 -MONDO:0011680 "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene." "Orphanet:313 Orphanet:281122 Orphanet:79394 OMIM:606545 ICD10:Q80.2 DOID:0060711 MESH:C564699" +MONDO:0011680 "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene." "Orphanet:313 Orphanet:281122 Orphanet:79394 OMIM:606545 DOID:0060711 MESH:C564699" HP:0100496 "UMLS:C4022040" GO:0003013 "A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism." UBERON:0010886 @@ -17577,8 +17569,8 @@ UBERON:0036150 http://identifiers.org/hgnc/7180 UBERON:0010885 MONDO:0100486 "Acne that occurs in an adult." "MESH:C565791 OMIM:604324" -MONDO:0010200 "Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body." "NCIT:C84756 MedDRA:10019819 OMIM:277900 GARD:0007893 SCTID:88518009 ICD10:E83.0 DOID:893 ICD10:E83.01 UMLS:C0019202 MESH:D006527 Orphanet:905" -MONDO:0008453 "OMIM:182980 Orphanet:209335 UMLS:CN200940 ICD10:G12.1 DOID:0111194" +MONDO:0010200 "Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body." "NCIT:C84756 MedDRA:10019819 OMIM:277900 GARD:0007893 SCTID:88518009 ICD10CM:E83.0 DOID:893 UMLS:C0019202 MESH:D006527 Orphanet:905" +MONDO:0008453 "ICD10CM:G12.1 OMIM:182980 Orphanet:209335 UMLS:CN200940 DOID:0111194" GO:1904320 "Any process that activates or increases the frequency, rate or extent of smooth muscle contraction involved in micturition." MONDO:0000503 "A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion." "UMLS:C0854971 ONCOTREE:LAIS DOID:0050870 NCIT:C136486" NCBITaxon:848 "GC_ID:11 PMID:1715737 PMID:11931161" @@ -17588,18 +17580,18 @@ MONDO:0022894 "GARD:0001588" MONDO:0007253 "MESH:C566179 UMLS:C1861915 OMIM:114450" MONDO:0005955 MONDO:0020231 "Orphanet:98647 UMLS:CN207059" -MONDO:0000747 "OBSOLETE. A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac." "ICD9:553.1 NCIT:C118375 ICD9:756.72 ICD10:Q79.2 MESH:D006554 SCTID:396347007 DOID:0060321 HP:0001537 UMLS:C0019322" +MONDO:0000747 "OBSOLETE. A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac." "ICD9:553.1 NCIT:C118375 ICD9:756.72 MESH:D006554 SCTID:396347007 DOID:0060321 HP:0001537 UMLS:C0019322" HP:0000201 "Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate." "UMLS:C0031900 MSH:D010855 SNOMEDCT_US:4602007" MONDO:0008452 "UMLS:C1866783 OMIM:182970 MESH:C566674" NCBITaxon:10374 "GC_ID:1" MONDO:0012672 "The presence of calculi in the gallbladder." "UMLS:C0008350 ICD9:574.20 UMLS:C0947622 ICD9:574 NCIT:C122822 MESH:D002769 DOID:10211 SCTID:266474003 EFO:0004799 OMIM:611465 ICD9:574.5" -MONDO:0005952 "A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever." "ICD9:034.1 MESH:D012541 UMLS:C0036285 ICD10:A38.9 NCIT:C94575 ICD9:034 DOID:8596 EFO:0007477 SCTID:30242009 ICD10:A38" -MONDO:0011022 "Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2)." "MESH:C538356 GARD:0009762 ICD10:Q93.5 DOID:0111687 ICD9:758.39 NCIT:C75456 SCTID:702346005 OMIM:601224 Orphanet:52022 UMLS:C1832588" +MONDO:0005952 "A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever." "ICD9:034.1 MESH:D012541 UMLS:C0036285 ICD10CM:A38 NCIT:C94575 ICD9:034 DOID:8596 EFO:0007477 SCTID:30242009" +MONDO:0011022 "Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2)." "MESH:C538356 GARD:0009762 ICD10CM:Q93.5 DOID:0111687 ICD9:758.39 NCIT:C75456 SCTID:702346005 OMIM:601224 Orphanet:52022 UMLS:C1832588" CHR:9606-chr15q11 MONDO:0700015 "Chromosomal disorder in which chromosome 8 is affected." "SCTID:48082007 UMLS:C0265418" -MONDO:0004359 "A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s)." "SCTID:48500005 ICD10:F22 ICD9:297.1 ICD10:F22.0 NCIT:C94379 DOID:778" +MONDO:0004359 "A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s)." "SCTID:48500005 ICD9:297.1 NCIT:C94379 ICD10CM:F22.0 DOID:778" MONDO:0042913 "MESH:C536639 GARD:0000256 UMLS:C2931275" -MONDO:0012453 "A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense." "ICD10:G11.4 Orphanet:101011 DOID:0110782 UMLS:C1853247 OMIM:610250 GARD:0010817 SCTID:763068005 MESH:C565210" +MONDO:0012453 "A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense." "Orphanet:101011 DOID:0110782 UMLS:C1853247 OMIM:610250 GARD:0010817 SCTID:763068005 ICD10CM:G11.4 MESH:C565210" HP:0001977 "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis)." "UMLS:C4025731" MONDO:0000596 "Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V)" "MESH:D010262 SCTID:50299009 DOID:0060044" http://identifiers.org/hgnc/4454 @@ -17610,15 +17602,15 @@ http://identifiers.org/hgnc/9359 MONDO:0016105 "An instance of skeletal muscle disease that is acquired during the lifetime of the individual." "Orphanet:206638 UMLS:CN200878" MONDO:0001292 "A disease involving the autonomic nervous system." "DOID:11465 SCTID:15241006 SCTID:128123007 ICD9:337.9 MESH:D001342 ICD9:337.1" MONDO:0016944 "Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "Orphanet:262749 GARD:0005355 MESH:C537819 UMLS:C0795820" -MONDO:0015317 "SCTID:703199001 Orphanet:137935 ICD10:D18.0 ICD9:228.09 UMLS:C3839574" -MONDO:0015550 "A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes." "SCTID:724840004 ICD10:Q81.0 Orphanet:158661 UMLS:C4511300" +MONDO:0015317 "SCTID:703199001 Orphanet:137935 ICD9:228.09 UMLS:C3839574 ICD10CM:D18.0" +MONDO:0015550 "A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes." "ICD10CM:Q81.0 SCTID:724840004 Orphanet:158661 UMLS:C4511300" MONDO:0008423 "Orphanet:166282 OMIM:182190 UMLS:C1866960 MESH:C566690 GARD:0004880" MONDO:0008689 "Orphanet:3202 GARD:0010676 OMIM:194380" MONDO:0017978 "Orphanet:325638 UMLS:CN204125" -MONDO:0019133 "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO)." "ICD10:Q87.8 UMLS:CN205657 Orphanet:73246" +MONDO:0019133 "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO)." "ICD10CM:Q87.8 UMLS:CN205657 Orphanet:73246" http://identifiers.org/hgnc/17861 MONDO:0010872 "OMIM:600343" -MONDO:0008429 "Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male)." "ICD10:Q78.8 Orphanet:85191 OMIM:616298 MESH:C537343 UMLS:C0432254 GARD:0000122 SCTID:254114000 OMIMPS:182250 OMIM:182250 ICD9:733.29" +MONDO:0008429 "Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male)." "Orphanet:85191 OMIM:616298 MESH:C537343 UMLS:C0432254 ICD10CM:Q78.8 GARD:0000122 SCTID:254114000 OMIMPS:182250 OMIM:182250 ICD9:733.29" GO:0060249 "A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome." PO:0020003 "A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006)." "PO_GIT:464 PO_GIT:70" NCBITaxon:33392 "GC_ID:1" @@ -17630,25 +17622,25 @@ MONDO:0009886 "UMLS:C1849773 MESH:C564883 OMIM:262900 GARD:0010318" SO:0000056 "A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number as some chromosomes are missing." MONDO:0000800 "OBSOLETE. A allergic disease involving a brown shrimp." "DOID:0060525" MONDO:0042912 "UMLS:C2931273 MESH:C536635 GARD:0000255" -MONDO:0008729 "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." "MESH:C535978 GARD:0005658 NCIT:C131085 ICD9:277.6 Orphanet:418 Orphanet:90795 OMIM:202010 UMLS:C0268292 SCTID:124214007 MedDRA:10000002 ICD10:E25.0" -MONDO:0016514 "ICD10:Q81.0 Orphanet:2325" +MONDO:0008729 "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." "Orphanet:90795 MESH:C535978 GARD:0005658 Orphanet:418 UMLS:C0268292 MedDRA:10000002 ICD10CM:E25.0 OMIM:202010 NCIT:C131085 ICD9:277.6 SCTID:124214007" +MONDO:0016514 "Orphanet:2325 ICD10CM:Q81.0" HP:0100497 "UMLS:C0030783 SNOMEDCT_US:418279001 SNOMEDCT_US:418186002 MSH:D010383" http://identifiers.org/hgnc/4455 MONDO:0020261 "Orphanet:98691" CHEBI:33308 "An ester of a carboxylic acid, R(1)C(=O)OR(2), where R(1) = H or organyl and R(2) = organyl." MONDO:0019273 GO:0005882 "A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins." -MONDO:0008582 "Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia." "ICD10:Q82.4 NCIT:C40553 DOID:6678 Orphanet:2228 UMLS:C0406735 SCTID:400036004 MESH:C536736 OMIM:189500 GARD:0005587" +MONDO:0008582 "Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia." "NCIT:C40553 DOID:6678 ICD10CM:Q82.4 Orphanet:2228 UMLS:C0406735 SCTID:400036004 MESH:C536736 OMIM:189500 GARD:0005587" CHEBI:27024 "Any member of the class of benzenes that is a substituted benzene in which the substituents include one (and only one) methyl group." -MONDO:0009232 "Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly." "MESH:C538189 SCTID:721296004 UMLS:C1856728 GARD:0002410 ICD10:Q74.8 OMIM:228930 Orphanet:2854 DOID:0090067" -MONDO:0018892 "Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex." "MESH:C536752 ICD10:Q28.2 Orphanet:53719 UMLS:C0265321 GARD:0007900 SCTID:6729006 MedDRA:10048661" -MONDO:0017713 "UMLS:CN227183 ICD10:E71.3 Orphanet:309115" +MONDO:0009232 "Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly." "MESH:C538189 ICD10CM:Q74.8 SCTID:721296004 UMLS:C1856728 GARD:0002410 OMIM:228930 Orphanet:2854 DOID:0090067" +MONDO:0018892 "Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex." "MESH:C536752 Orphanet:53719 ICD10CM:Q28.2 UMLS:C0265321 GARD:0007900 SCTID:6729006 MedDRA:10048661" +MONDO:0017713 "UMLS:CN227183 ICD10CM:E71.3 Orphanet:309115" HP:0001888 "A reduced number of lymphocytes in the blood." "UMLS:C0024312 MSH:D008231 SNOMEDCT_US:48813009" MONDO:0010871 "OMIM:600335 Orphanet:936 MESH:C563952 UMLS:C1838243" -MONDO:0001954 "A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations." "ICD9:453.1 DOID:14392 ICD10:I82.1 UMLS:C0152250 SCTID:31268005" +MONDO:0001954 "A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations." "ICD9:453.1 ICD10CM:I82.1 DOID:14392 UMLS:C0152250 SCTID:31268005" http://identifiers.org/hgnc/3257 MONDO:0003820 "An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues." "UMLS:C1334637 NCIT:C8112 DOID:6231 ONCOTREE:OMT" -MONDO:0001244 "Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding." "NCIT:C99108 ICD9:269.0 SCTID:52675005 MESH:D014813 DOID:11249 UMLS:C0042880 UMLS:C0272348 ICD10:E56.1" +MONDO:0001244 "Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding." "ICD10CM:E56.1 NCIT:C99108 ICD9:269.0 SCTID:52675005 MESH:D014813 DOID:11249 UMLS:C0042880 UMLS:C0272348" http://identifiers.org/hgnc/11509 MONDO:0003448 "A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported." "ICDO:8403/0 DOID:5444 GARD:0008649 UMLS:C0334347 SCTID:403938001 ONCOTREE:SPIR NCIT:C4170" UBERON:0011821 @@ -17656,9 +17648,9 @@ MONDO:0003403 "A classification of testicular cancers that arise in specialized MONDO:0012423 "MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34." "OMIM:610156 MESH:C536984 Orphanet:75858 UMLS:C1857802 SCTID:715628009 GARD:0010121" GO:0004674 "Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate." HsapDv:0000135 "Adult stage that refers to an adult who is over 41 and under 42." -MONDO:8000017 "A developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." "ICD10:Q55.0 SCTID:53599007 ICD9:752.89 Orphanet:983 UMLS:C0266427 MedDRA:10002641" +MONDO:8000017 "A developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." "SCTID:53599007 ICD9:752.89 Orphanet:983 UMLS:C0266427 MedDRA:10002641" MONDO:0042911 "MESH:C535835 GARD:0000253 UMLS:C2931036" -MONDO:0016331 "Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands." "OMIM:228600 Orphanet:2176 SCTID:238867003 ICD10:E78.8" +MONDO:0016331 "Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands." "OMIM:228600 Orphanet:2176 ICD10CM:E78.8 SCTID:238867003 OMIM:236490" MONDO:0020262 "Orphanet:98692" ENVO:01000817 "A biosphere is a part of an astronomical body which includes, as parts, all the living entities within the gravitational sphere of influence of that body, as well as the non-living and dead entities with which they interact." http://identifiers.org/hgnc/4456 @@ -17677,7 +17669,7 @@ CL:1000838 "KUPO:0001045" MONDO:0044907 "A squamous cell carcinoma which has spread from its original site of growth to another anatomic site." "NCIT:C4104 UMLS:C0334246 SCTID:403906006" MONDO:0000379 "A malignant form of Sertoli-leydig cell tumor." "DOID:0050618" MONDO:0017710 "Orphanet:3091" -MONDO:0018383 "An instance of osteonecrosis that is caused by a modification of the individual's genome." "ICD10:M93.9 Orphanet:399380" +MONDO:0018383 "An instance of osteonecrosis that is caused by a modification of the individual's genome." "Orphanet:399380 ICD10CM:M93.9" MONDO:0001313 "A acute serous otitis media caused by an allergen." "UMLS:C0155418 DOID:11558 ICD9:381.04 SCTID:59275002" http://identifiers.org/hgnc/3258 MONDO:0010874 "OMIM:600351 UMLS:C1838238 MESH:C563949" @@ -17686,21 +17678,21 @@ GO:0019233 "The series of events required for an organism to receive a painful s http://identifiers.org/hgnc/20134 GO:0035227 "Any process that modulates the activity of glutamate-cysteine ligase." MONDO:0009884 "MESH:C564884 UMLS:C1849774 OMIM:262875" -MONDO:0010543 "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." "SCTID:297231002 NCIT:C84585 Orphanet:111 MESH:D056889 GARD:0005890 ICD10:E71.1 UMLS:C0574083 DOID:0050476 ICD10:E78.71 OMIM:302060" +MONDO:0010543 "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." "SCTID:297231002 NCIT:C84585 Orphanet:111 MESH:D056889 GARD:0005890 UMLS:C0574083 DOID:0050476 ICD10CM:E78.71 ICD10CM:E71.1 OMIM:302060" MONDO:0020263 "Orphanet:98693" UBERON:0035198 MONDO:0019275 "Orphanet:79360 UMLS:CN205922" MONDO:0007229 "OMIM:113475" GO:0044420 "OBSOLETE. Any constituent part of the extracellular matrix, the structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as often seen in plants)." -MONDO:0004607 "A cancer involving a epiglottic vallecula." "ICD10:C10.0 UMLS:C0153386 ICD9:146.3 SCTID:363395000 DOID:8556" +MONDO:0004607 "A cancer involving a epiglottic vallecula." "UMLS:C0153386 ICD9:146.3 SCTID:363395000 DOID:8556 ICD10CM:C10.0" GO:0009165 "The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates)." CHEBI:24675 "Any benzoate derivative carrying a single carboxylate group and at least one hydroxy substituent." -MONDO:0020525 "Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." "OMIM:601410 NCIT:C114899 SCTID:237603002 GARD:0001839 DOID:0060334 Orphanet:99886 ICD10:P70.2 OMIM:610582 OMIM:610374 HP:0008255" +MONDO:0020525 "Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients." "OMIM:601410 NCIT:C114899 SCTID:237603002 GARD:0001839 DOID:0060334 Orphanet:99886 OMIM:610582 ICD10CM:P70.2 OMIM:610374 HP:0008255" MONDO:0012171 "MESH:C563814 OMIM:609008 UMLS:C1836994" -MONDO:0016707 "Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches." "NCIT:C4324 Orphanet:251679 ONCOTREE:ASTB GARD:0010635 ICDO:9430/3 DOID:7305 ICD10:C71.9 MESH:D018302 UMLS:C0334587" -MONDO:0017711 "UMLS:C0268241 OMIM:614338 ICD9:277.89 Orphanet:309108 SCTID:69478001 ICD10:K90.3" +MONDO:0016707 "Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches." "NCIT:C4324 Orphanet:251679 ONCOTREE:ASTB GARD:0010635 ICDO:9430/3 DOID:7305 ICD10CM:C71.9 MESH:D018302 UMLS:C0334587" +MONDO:0017711 "UMLS:C0268241 OMIM:614338 ICD9:277.89 ICD10CM:K90.3 Orphanet:309108 SCTID:69478001" MONDO:0017977 "UMLS:CN227238 Orphanet:325632" -MONDO:0005045 "A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract." "OMIM:613838 OMIM:600858 OMIM:613874 DOID:11984 OMIM:613690 EFO:0000538 KEGG:05410 OMIM:613255 OMIM:115197 Orphanet:217569 OMIM:601493 SCTID:233873004 OMIM:613251 NCIT:C34449 ICD9:425.1 NCIT:C84773 OMIM:612098 OMIM:192600 OMIM:608751 ICD9:425.4 ICD9:425.11 OMIM:115196 UMLS:C0007194 OMIM:613765 OMIM:613875 OMIMPS:192600 OMIM:613873 MedDRA:10020871 MESH:D002312 ICD10:I42.1" +MONDO:0005045 "A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract." "OMIM:613838 OMIM:600858 OMIM:613874 DOID:11984 OMIM:613690 EFO:0000538 KEGG:05410 OMIM:613255 ICD10CM:I42.1 OMIM:115197 Orphanet:217569 OMIM:601493 SCTID:233873004 OMIM:613251 NCIT:C34449 ICD9:425.1 NCIT:C84773 OMIM:612098 OMIM:192600 OMIM:608751 ICD9:425.4 ICD9:425.11 OMIM:115196 UMLS:C0007194 OMIM:613765 OMIM:613875 OMIMPS:192600 OMIM:613873 MedDRA:10020871 MESH:D002312" CL:1000839 "KUPO:0001046" MONDO:0010873 "MESH:C563950 Orphanet:99796 OMIM:600348 UMLS:C1838239" NCBITaxon:35790 "PMID:2516664 PMID:1581190 GC_ID:11" @@ -17711,20 +17703,20 @@ CHEBI:39472 MONDO:0009625 "GARD:0008510 MESH:C537546 OMIM:251280 UMLS:C1855055" MONDO:0005926 MONDO:0002955 "A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis." "SCTID:717731002 NCIT:C6381 DOID:4301 Orphanet:494451 UMLS:C1336977" -MONDO:0007758 "A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas." "OMIM:144200 NCIT:C84693 DOID:0080223 ICD10:Q82.8 GARD:0002826 SCTID:399955009 UMLS:C0022584 Orphanet:2199 ICD9:757.39 UMLS:C1721006" -MONDO:0006003 "A malignant neoplasm involving the body of uterus." "DOID:9460 ICD10:C54 EFO:0007532 SCTID:371972005 ICD9:182 ICD10:C54.9 NCIT:C61574" +MONDO:0007758 "A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas." "OMIM:144200 NCIT:C84693 ICD10CM:Q82.8 DOID:0080223 GARD:0002826 SCTID:399955009 UMLS:C0022584 Orphanet:2199 ICD9:757.39 UMLS:C1721006" +MONDO:0006003 "A malignant neoplasm involving the body of uterus." "DOID:9460 EFO:0007532 SCTID:371972005 ICD9:182 NCIT:C61574" FOODON:00001579 "An alcoholic drink (or alcoholic beverage) is a drink that contains ethanol, a type of alcohol produced by fermentation of grains, fruits, or other sources of sugar."@en "SUBSET_SIREN:F10770" MONDO:0016511 "Orphanet:232035" UBERON:0015788 MONDO:0000805 "OBSOLETE. A allergic disease involving a snail food product." "DOID:0060530" -MONDO:0015781 "Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit." "MESH:C537529 ICD10:Q87.8 GARD:0004778 Orphanet:1778 UMLS:C2931522 SCTID:716337006" +MONDO:0015781 "Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit." "ICD10CM:Q87.8 MESH:C537529 GARD:0004778 Orphanet:1778 UMLS:C2931522 SCTID:716337006" http://identifiers.org/hgnc/4458 MONDO:0001735 "A disease involving the paranasal sinus." "NCIT:C26843 DOID:1352 ICD9:478.1 UMLS:C0030469 SCTID:7393007 MESH:D010254" MONDO:0000331 "A disease caused by infection with Rickettsia helvetica." "DOID:0050484" MONDO:0019270 "MedDRA:10015280 SCTID:254215005 Orphanet:79355 ICD9:757.39" -MONDO:0010864 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31." "ICD10:E10 OMIM:600321 DOID:0110746 UMLS:C1838259 MESH:C563957" +MONDO:0010864 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31." "OMIM:600321 DOID:0110746 UMLS:C1838259 MESH:C563957" MONDO:0043839 "A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue." "NCIT:C3426 SCTID:429040005 UMLS:C0041582 MESH:D014456" -MONDO:0004635 "A primary or metastatic malignant neoplasm that affects the postcricoid region." "ICD10:C13.0 ICD9:148.0 DOID:8660 UMLS:C0496769 SCTID:363400004 NCIT:C9323" +MONDO:0004635 "A primary or metastatic malignant neoplasm that affects the postcricoid region." "ICD9:148.0 DOID:8660 UMLS:C0496769 SCTID:363400004 NCIT:C9323" MONDO:0006024 MONDO:0017974 "UMLS:CN227235 Orphanet:325537" MONDO:0014485 "Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene." "Orphanet:2254 UMLS:C4015160 OMIM:616081" @@ -17739,11 +17731,11 @@ MONDO:0015924 "Pulmonary arterial hypertension (PAH) is a group of diseases char MONDO:0001075 "A finding of an excessive amount of fat in the stool." "SCTID:27868004 MESH:D045602 HP:0002570 DOID:10602 NCIT:C86917" UBERON:0013126 MONDO:0013591 "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene." "UMLS:C2675767 GARD:0013376 OMIM:614135 DOID:0070301 Orphanet:166002" -MONDO:0017217 "Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation." "Orphanet:280068 ICD10:E83.5" +MONDO:0017217 "Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation." "ICD10CM:E83.5 Orphanet:280068" UBERON:0015789 MONDO:0004728 "DOID:9191 SCTID:312912001 UMLS:C0730285 ICD9:362.07" http://identifiers.org/hgnc/15469 -MONDO:0015698 "A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span." "SCTID:88714009 ICD9:279.09 MedDRA:10044388 UMLS:C0272238 NCIT:C27071 ICD10:D80.7 Orphanet:169139 DOID:624" +MONDO:0015698 "A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span." "SCTID:88714009 ICD9:279.09 ICD10CM:D80.7 MedDRA:10044388 UMLS:C0272238 NCIT:C27071 Orphanet:169139 DOID:624" MONDO:0000771 "A respiratory system disease with a basis in a pathological type I hypersensitivity reaction." "DOID:0060496" GO:0005102 "Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function." GO:0050891 "Any process involved in the maintenance of an internal steady state of water within a tissue, organ, or a multicellular organism." @@ -17757,12 +17749,12 @@ MONDO:0007224 "OMIM:113301 MESH:C566193 UMLS:C1862101" GO:1901653 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus." GO:0090665 "A protein complex containing at least one glycosylated protein, may be held together by both covalent and noncovalent bonds." http://identifiers.org/hgnc/6859 -MONDO:0021569 "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." "Orphanet:261 OMIM:159001 UMLS:C1834653 UMLS:C2750035 SCTID:718178006 ICD9:425.4 OMIM:181350 ICD10:G71.0 DOID:0070247 Orphanet:98853 MESH:C535898 DOID:0110301 UMLS:C0410190 NCIT:C126745 SCTID:240072005 Orphanet:264 GARD:0010230" +MONDO:0021569 "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene." "Orphanet:261 OMIM:159001 ICD10CM:G71.0 UMLS:C1834653 UMLS:C2750035 SCTID:718178006 ICD9:425.4 OMIM:181350 DOID:0070247 Orphanet:98853 MESH:C535898 DOID:0110301 UMLS:C0410190 NCIT:C126745 SCTID:240072005 Orphanet:264 GARD:0010230" MONDO:0012174 "UMLS:C1836946 OMIM:609021 MESH:C563813" -MONDO:0011015 "A cataract that has material basis in variation in the region 17p13." "Orphanet:91492 UMLS:C1832609 Orphanet:98988 OMIM:601202 ICD10:Q12.0 MESH:C537774 DOID:0110257" +MONDO:0011015 "A cataract that has material basis in variation in the region 17p13." "Orphanet:91492 UMLS:C1832609 OMIM:601202 Orphanet:98988 MESH:C537774 DOID:0110257" MONDO:0003469 "A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures." "ICDO:9042/3 DOID:5494 UMLS:C0334506 NCIT:C4278" -MONDO:0017972 "Orphanet:325524 ICD10:E25.0" -MONDO:0010214 "Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." "Orphanet:910 NCIT:C141367 OMIM:278750 DOID:0110847 Orphanet:90342 MESH:C536766 GARD:0005630 ICD10:Q82.1 UMLS:C1848410" +MONDO:0017972 "Orphanet:325524 ICD10CM:E25.0" +MONDO:0010214 "Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." "Orphanet:910 NCIT:C141367 OMIM:278750 ICD10CM:Q82.1 DOID:0110847 Orphanet:90342 MESH:C536766 GARD:0005630 UMLS:C1848410" UBERON:0011826 ENVO:00000106 "An area in which grasses (Graminae) are a significant component of the vegetation." MONDO:0009888 "UMLS:C1849771 MESH:C564882 OMIM:263100" @@ -17773,32 +17765,32 @@ MONDO:0025484 "Acquired defect of cellular immunity that occurs naturally in mac MONDO:0003875 "A mature teratoma that arises from the central nervous system during childhood." "UMLS:C1332955 NCIT:C27404 DOID:6423" MONDO:0011697 "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23." "DOID:0110951 Orphanet:3440 OMIM:606662 MESH:C564684 Orphanet:895 UMLS:C1847722" MONDO:0004997 "A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes." "ICDO:9230/0 MESH:D002804 GARD:0006047 EFO:0000331 ONCOTREE:CHBL NCIT:C2945 DOID:2649 HP:0030432 UMLS:C0008441" -MONDO:0016175 "Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." "Orphanet:209 MedDRA:10011692 ICD10:Q82.8 GARD:0006227 DOID:3144 SCTID:58588007 NCIT:C84663 UMLS:C0010495 MESH:D003483" +MONDO:0016175 "Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." "Orphanet:209 MedDRA:10011692 GARD:0006227 DOID:3144 ICD10CM:Q82.8 SCTID:58588007 NCIT:C84663 UMLS:C0010495 MESH:D003483" MONDO:0014571 "DOID:0111442 UMLS:C4085249 OMIM:616289" -MONDO:0021527 "A benign neoplasm that involves the meningeal cluster." "NCIT:C4957 ICD10:D32 SCTID:109913001 UMLS:C0348426" +MONDO:0021527 "A benign neoplasm that involves the meningeal cluster." "NCIT:C4957 SCTID:109913001 ICD10CM:D32 UMLS:C0348426" UBERON:0015787 -MONDO:0019271 "Orphanet:79356 ICD10:Q82.8" +MONDO:0019271 "ICD10CM:Q82.8 Orphanet:79356" MONDO:0002295 "A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site." "NCIT:C4491 UMLS:C0346083 SCTID:254795008 DOID:2430" -MONDO:0001531 "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood." "MESH:D001778 ICD9:286 ICD9:287.8 ICD9:286.9 SCTID:64779008 DOID:1247 ICD10:D68.9 NCIT:C2902" +MONDO:0001531 "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood." "MESH:D001778 ICD9:286 ICD9:287.8 ICD10CM:D65-D69 ICD9:286.9 SCTID:64779008 DOID:1247 NCIT:C2902" MONDO:0003133 "Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes." "UMLS:C0546345 NCIT:C35706 DOID:4777" ECTO:0000980 "A exposure event involving the interaction of an exposure receptor to temperature of air." MONDO:0008424 "OMIM:182200 MESH:C566689" GO:1905349 "The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone." MONDO:0015310 "UMLS:CN226655 Orphanet:137905" HP:0002797 "Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium." "SNOMEDCT_US:30425001 MSH:D010014 SNOMEDCT_US:203522001 UMLS:C0221204" -MONDO:0017973 "Orphanet:325529 ICD10:E25.0" +MONDO:0017973 "Orphanet:325529 ICD10CM:E25.0" CL:0002074 "The myoendocrine cellis a specialized myocyte localized mainly in the right and left atrial appendages, and also scattered within other areas of the atria and along the conductive system in the ventricular septum. The most conspicuous feature distinguishing myoendocrine cells from other atrial myoctyes is the presence of membane-bounded secretory granules (these granules contain precursor of cardiodilatins or atrial natriuretic polypeptides)." "FMA:67111" UBERON:0009652 -MONDO:0015674 "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." "OMIM:204500 OMIM:256730 OMIM:610127 ICD10:E75.4 OMIM:600143 OMIM:256731 Orphanet:168491 SCTID:14637005 OMIM:610951 OMIM:601780" +MONDO:0015674 "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." "OMIM:204500 OMIM:256730 OMIM:610127 ICD10CM:E75.4 OMIM:600143 OMIM:256731 Orphanet:168491 SCTID:14637005 OMIM:610951 OMIM:601780" MONDO:0060777 "A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium." "UMLS:C1516413 NCIT:C40200" -MONDO:0019771 "Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." "Orphanet:93958 UMLS:C0393607 ICD10:G24.4 DOID:0050843" +MONDO:0019771 "Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." "Orphanet:93958 UMLS:C0393607 DOID:0050843" UBERON:0007257 MONDO:0016819 "This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism." "Orphanet:2560 UMLS:C2931024" MONDO:0001394 "ICD9:207.1 DOID:11868" CHR:9606-chr14q -MONDO:0019016 "UMLS:CN924917 ICD10:H49.4 Orphanet:663" -MONDO:0012512 "Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." "Orphanet:168566 DOID:0111486 SCTID:720951008 ICD10:E88.8 MESH:C566467 OMIM:610505" -MONDO:0013910 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene." "Orphanet:478 DOID:0090074 UMLS:C3553841 OMIM:614837 ICD10:E23.0" +MONDO:0019016 "UMLS:CN924917 ICD10CM:H49.4 Orphanet:663" +MONDO:0012512 "Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." "Orphanet:168566 DOID:0111486 SCTID:720951008 ICD10CM:E88.8 MESH:C566467 OMIM:610505" +MONDO:0013910 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene." "Orphanet:478 DOID:0090074 UMLS:C3553841 OMIM:614837" MONDO:0003258 "A hemangioma characterized by the presence of hobnail endothelial cells." "DOID:505 UMLS:C0346076 SCTID:254790003 NCIT:C27506" UBERON:0006059 http://identifiers.org/hgnc/1952 @@ -17809,38 +17801,38 @@ MONDO:0000340 "A paralytic poliomyelitis in which the site of paralysis is the b MONDO:0000196 GO:0071696 "The progression of an ectodermal placode over time from its initial formation until its mature state. An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm." http://identifiers.org/hgnc/11766 -MONDO:0008264 "A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1)." "UMLS:CN536252 UMLS:C4511620 EFO:0008617 UMLS:CN204412 OMIM:174000 UMLS:C4054549 GARD:0010801 MEDGEN:358137 Orphanet:34149 SCTID:444699000 MEDGEN:881357 ICD10:Q61.5 OMIM:609886 MESH:C536137 OMIM:603860" +MONDO:0008264 "A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1)." "UMLS:CN536252 UMLS:C4511620 EFO:0008617 UMLS:CN204412 OMIM:174000 UMLS:C4054549 GARD:0010801 MEDGEN:358137 Orphanet:34149 SCTID:444699000 MEDGEN:881357 OMIM:609886 MESH:C536137 OMIM:603860" UBERON:0009653 MONDO:0001065 "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus." "DOID:10556 ICD9:669.20 SCTID:88887003 HP:0008071" -MONDO:0004880 "Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction." "DOID:9779 UMLS:C2004461 ICD10:K59.9 ICD9:564.9 SCTID:235594008" +MONDO:0004880 "Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction." "DOID:9779 UMLS:C2004461 ICD9:564.9 SCTID:235594008" MONDO:0001393 "UMLS:C0339394 SCTID:56787009 DOID:11864 ICD9:363.04" UBERON:0013122 -MONDO:0009175 "Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed." "ICD9:728.89 HP:0045029 ICD10:M35.4 NCIT:C112116 MedDRA:10014954 UMLS:C0264005 SCTID:24129002 GARD:0006351 Orphanet:3165 OMIM:226350" +MONDO:0009175 "Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed." "ICD9:728.89 HP:0045029 NCIT:C112116 MedDRA:10014954 UMLS:C0264005 SCTID:24129002 GARD:0006351 Orphanet:3165 OMIM:226350" HP:0000492 "An abnormality of the eyelids." "UMLS:C4021803" ENVO:03000043 "A process during which a portion of some environmental material is converted into a different material or a collection of materials." NCBITaxon:43817 "GC_ID:1" -MONDO:0019548 "Autosomal dominant form of intermediate Charcot-Marie-Tooth disease." "ICD10:G60.0 Orphanet:90114 UMLS:CN206376 GARD:0012436" +MONDO:0019548 "Autosomal dominant form of intermediate Charcot-Marie-Tooth disease." "ICD10CM:G60.0 Orphanet:90114 UMLS:CN206376 GARD:0012436" UBERON:0006058 MONDO:0000195 -MONDO:0013559 "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene." "OMIM:614076 Orphanet:231531 Orphanet:79430 DOID:0060545 UMLS:C3279756 ICD10:E70.3" +MONDO:0013559 "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene." "ICD10CM:E70.3 OMIM:614076 Orphanet:231531 Orphanet:79430 DOID:0060545 UMLS:C3279756" MONDO:0020687 "An ependymal tumor arising from the supratentorial region of the brain." "NCIT:C131611" UBERON:0013121 MONDO:0100400 "Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)" "NCIT:C168766" UBERON:0007255 MONDO:0100084 "A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance." -MONDO:0007428 "Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant." "MESH:C565118 SCTID:716245003 ICD10:Q87.0 Orphanet:3241 GARD:0001686 OMIM:125230 UMLS:C1852278" +MONDO:0007428 "Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant." "MESH:C565118 SCTID:716245003 Orphanet:3241 GARD:0001686 ICD10CM:Q87.0 OMIM:125230 UMLS:C1852278" http://identifiers.org/hgnc/1955 HP:0025426 "Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs." -MONDO:0001392 "MESH:D005099 ICD10:H50.11 UMLS:C0152206 ICD9:378.11 SCTID:5725006 DOID:11853" +MONDO:0001392 "MESH:D005099 UMLS:C0152206 ICD9:378.11 SCTID:5725006 DOID:11853" MONDO:0004816 "A plasma cell neoplasm that is resistant to treatment." "DOID:9544 NCIT:C7813 UMLS:C0278620" MONDO:0001707 "Sarcoidosis affecting the tissues of the heart." "DOID:13405 NCIT:C35589 SCTID:75403004 UMLS:C0392077" MONDO:0002816 "A disease involving the adrenal cortex." "DOID:3952 UMLS:C0001614 SCTID:129636003 MESH:D000303" -MONDO:0012868 "Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency." "UMLS:C3278211 MESH:C567077 Orphanet:743 OMIM:612336 ICD10:D68.8 MedDRA:10068370 Orphanet:26349" -MONDO:0020560 "Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children." "ICD10:C49.9 ONCOTREE:ATRT UMLS:CN207484 ICDO:9508/3 OMIM:609322 UMLS:C1266184 DOID:2129 Orphanet:99966 EFO:1002008 NCIT:C6906" -MONDO:0018169 "Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies." "OMIM:120430 GARD:0013354 ICD10:Q14.2 UMLS:C0549307 Orphanet:35737 MedDRA:10027974" +MONDO:0012868 "Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency." "UMLS:C3278211 ICD10CM:D68.8 MESH:C567077 Orphanet:743 OMIM:612336 MedDRA:10068370 Orphanet:26349" +MONDO:0020560 "Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children." "ONCOTREE:ATRT UMLS:CN207484 ICDO:9508/3 OMIM:609322 UMLS:C1266184 DOID:2129 Orphanet:99966 EFO:1002008 ICD10CM:C49.9 NCIT:C6906" +MONDO:0018169 "Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies." "OMIM:120430 GARD:0013354 ICD10CM:Q14.2 UMLS:C0549307 Orphanet:35737 MedDRA:10027974" NCBITaxon:43816 "GC_ID:1" MONDO:0017718 "UMLS:CN227185 Orphanet:309136" -MONDO:0016529 "Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating." "GARD:0001975 Orphanet:237 SCTID:69015003 ICD9:753.8 ICD10:Q64.7" +MONDO:0016529 "Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating." "GARD:0001975 Orphanet:237 SCTID:69015003 ICD9:753.8 ICD10CM:Q64.7" GO:0019637 "The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound." CL:0000015 "Male germ cell is a germ cell that supports male gamete production." "ncithesaurus:Spermatogenic_Cell MA:0002765 VHOG:0001531 FMA:72290" MONDO:0006751 "Infections with bacteria of the genus erysipelothrix." "MESH:D004889 SCTID:367434002 EFO:1000927 UMLS:C0014736" @@ -17853,18 +17845,18 @@ MONDO:0016463 "A agammaglobulinemia that is part of a larger syndrome." "NCIT:C2 MONDO:0018917 UBERON:0009651 UBERON:0015783 -MONDO:0002959 "Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root." "ICD10:M54.10 ICD10:M54.1 SCTID:72274001 UMLS:C0700594 DOID:4306 MESH:D011843" +MONDO:0002959 "Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root." "ICD10CM:M54.1 SCTID:72274001 UMLS:C0700594 DOID:4306 MESH:D011843" UBERON:0007254 http://identifiers.org/hgnc/11764 GO:0005355 "Enables the transfer of the hexose monosaccharide glucose from one side of a membrane to the other." GO:0004485 "Catalysis of the reaction: 3-methylbut-2-enoyl-CoA + ATP + bicarbonate = trans-3-methylglutaconyl-CoA + ADP + 2 H(+) + phosphate." IAO:8000003 "An ontology module that is intended to be the primary release product and the one consumed by the majority of tools."@en UBERON:0006056 -MONDO:0016502 "Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." "ICD10:E70.3 OMIM:614072 OMIM:614074 OMIM:614075 Orphanet:231512 UMLS:CN201507" +MONDO:0016502 "Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." "OMIM:614072 OMIM:614074 OMIM:614075 Orphanet:231512 UMLS:CN201507 ICD10CM:E70.3" MONDO:0005830 "A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin." "EFO:0007349 UMLS:C0024106 MESH:D008166" -MONDO:0004151 "A malignant neoplasm involving the meninx of spinal cord." "ICD9:192.3 ICD10:C70.1 UMLS:C0153647 DOID:7224 SCTID:363476006" +MONDO:0004151 "A malignant neoplasm involving the meninx of spinal cord." "ICD9:192.3 UMLS:C0153647 DOID:7224 SCTID:363476006" MONDO:0002590 "DOID:3281" -MONDO:0005804 "Abnormally high level of prolactin in the blood." "ICD10:E22.1 EFO:0007319 MESH:D002640 HP:0000870 UMLS:C0020514 SCTID:237662005 NCIT:C113168 ICD9:253.1 MESH:D006966" +MONDO:0005804 "Abnormally high level of prolactin in the blood." "EFO:0007319 MESH:D002640 HP:0000870 ICD10CM:E22.1 UMLS:C0020514 SCTID:237662005 NCIT:C113168 ICD9:253.1 MESH:D006966" MONDO:0003756 "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract." "NCIT:C40033 UMLS:C1518233 NCIT:C5242 UMLS:C1335168 DOID:6067" MONDO:0003659 "A Hodgkin or non-Hodgkin lymphoma that occurs during childhood." "DOID:5823 NCIT:C5165 UMLS:C1332979" NCBITaxon:2605435 "GC_ID:1" @@ -17872,30 +17864,30 @@ MONDO:0016519 MONDO:0023224 "An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome." "GARD:0002455" MONDO:0001390 "UMLS:C0155000 SCTID:81519008 DOID:11850 ICD9:367.81" MONDO:0004327 "A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma." "DOID:7679 UMLS:C1336038 NCIT:C6838" -MONDO:0002071 "Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation." "DOID:1659 NCIT:C4964 ICD10:C71.0 MESH:D015173" +MONDO:0002071 "Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation." "DOID:1659 NCIT:C4964 MESH:D015173" NCBITaxon:186820 "GC_ID:11" IAO:0000015 "A quality of an information bearer that imparts the information content"@en -MONDO:0019950 "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted." "EFO:0006819 ICD9:359.0 DOID:0050557 SCTID:240059009 UMLS:C0699743 Orphanet:97242 UMLS:C0026850 GARD:0009138 OMIM:254100 ICD10:G71.2" -MONDO:0017716 "UMLS:CN227184 ICD10:E71.3 Orphanet:309130" +MONDO:0019950 "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted." "EFO:0006819 ICD9:359.0 DOID:0050557 SCTID:240059009 UMLS:C0699743 Orphanet:97242 UMLS:C0026850 GARD:0009138 OMIM:254100 ICD10CM:G71.2" +MONDO:0017716 "UMLS:CN227184 Orphanet:309130 ICD10CM:E71.3" PO:0009046 "A determinate reproductive shoot system (PO:0025082) that has as part at least one carpel (PO:0009030) or at least one stamen (PO:0009029) and does not contain any other determinate shoot system (PO:0009006) as a part." "PO_GIT:160 PO_GIT:259" -MONDO:0017583 "Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene." "Orphanet:3004 UMLS:CN203387 ICD10:Q87.2" +MONDO:0017583 "Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene." "Orphanet:3004 UMLS:CN203387 ICD10CM:Q87.2" MONDO:0019278 "Orphanet:79363" MONDO:0000192 "OMIMPS:615895 UMLS:CN228160" MONDO:0003244 "A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)" "DOID:502 UMLS:C1332893 NCIT:C5449" -MONDO:0019872 "Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers." "SCTID:764519007 Orphanet:96071 ICD10:Q92.3" +MONDO:0019872 "Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers." "SCTID:764519007 Orphanet:96071" http://identifiers.org/hgnc/11506 -MONDO:0011821 "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene." "GARD:0008744 UMLS:C1846357 DOID:0070117 ICD10:Q61.9 MESH:C536132 Orphanet:564 OMIM:607361" +MONDO:0011821 "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene." "GARD:0008744 UMLS:C1846357 DOID:0070117 MESH:C536132 Orphanet:564 OMIM:607361" GO:0004602 "Catalysis of the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O." MONDO:0018915 http://identifiers.org/hgnc/4451 MONDO:0020672 "A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot." ENVO:00002872 "The biomass remaining after sugarcane stalks are crushed to extract their juice." -MONDO:0019881 "Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported." "ICD10:Q92.3 Orphanet:96098 MESH:C537810 SCTID:763275001" +MONDO:0019881 "Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported." "Orphanet:96098 MESH:C537810 SCTID:763275001" MONDO:0011541 "An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." "Orphanet:217622 OMIM:605362 UMLS:C1854368 DOID:0110440 MESH:C565337" http://identifiers.org/hgnc/1956 UBERON:0009657 MONDO:0024971 "A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes." "SCTID:405256006 MESH:D010319 UMLS:C0030612" -MONDO:0017717 "UMLS:CN203613 Orphanet:309133 ICD10:E71.3" +MONDO:0017717 "UMLS:CN203613 ICD10CM:E71.3 Orphanet:309133" http://identifiers.org/hgnc/12703 http://identifiers.org/hgnc/10306 MONDO:0009094 "Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive." "ICD9:379.99 Orphanet:79149 OMIM:221800 GARD:0001815 MESH:C535375 UMLS:C0432288 SCTID:254150007" @@ -17904,49 +17896,49 @@ HP:0011280 "An abnormality of calcium concentration in the urine." "UMLS:C402343 MONDO:0019277 "Orphanet:79362" MONDO:0044767 "A rare pheochromocytoma of the adrenal gland that occurs during childhood." "DOID:0070325 GTR:AN0102113 GARD:0009368 GARD:9368 NCIT:C118822 UMLS:CN036354" MONDO:0000191 -MONDO:0017767 "A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis." "ICD10:I01.9 ICD10:I01.0 MESH:D012213 ICD10:I00-I02 UMLS:C0035436 OMIM:268240 ICD10:I00 ICD10:I01.8 NCIT:C34984 GARD:0005699 MedDRA:10039054 EFO:1001160 ICD10:I01.1 SCTID:58718002 DOID:1586 ICD10:I01.2 ICD9:390 Orphanet:3099 ICD9:390-392.99" +MONDO:0017767 "A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis." "ICD10CM:I01.1 MESH:D012213 ICD10CM:I01.2 ICD10CM:I01.8 ICD10CM:I00 UMLS:C0035436 OMIM:268240 ICD10CM:I00-I02 ICD10CM:I01.0 NCIT:C34984 GARD:0005699 MedDRA:10039054 EFO:1001160 SCTID:58718002 DOID:1586 ICD10CM:I01.9 ICD9:390 Orphanet:3099 ICD9:390-392.99" CL:0002555 "A fibroblast that is part of the mammary gland." http://identifiers.org/hgnc/11769 http://identifiers.org/hgnc/11503 -MONDO:0009744 "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "SCTID:720830009 NCIT:C85861 GARD:0001219 ICD10:E75.4 Orphanet:168486 DOID:0110721 Orphanet:168491 Orphanet:228329 GARD:0009447 Orphanet:79262 OMIM:256730 UMLS:C0027877 OMIM:610127 Orphanet:79263 Orphanet:79264 OMIM:214200" +MONDO:0009744 "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "SCTID:720830009 NCIT:C85861 GARD:0001219 Orphanet:168486 DOID:0110721 Orphanet:168491 Orphanet:228329 GARD:0009447 Orphanet:79262 OMIM:256730 UMLS:C0027877 OMIM:610127 Orphanet:79263 Orphanet:79264 OMIM:214200 ICD10CM:E75.4" http://identifiers.org/hgnc/37276 http://identifiers.org/hgnc/15464 GO:0007566 "Attachment of the blastocyst to the uterine lining." http://identifiers.org/hgnc/4452 MONDO:0100425 "Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.)" "NCIT:C41361" -MONDO:0000136 "Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." "OMIM:308800 GARD:0006829 MESH:C536159 SCTID:238626006 ICD10:Q82.8 OMIM:604093 ICD9:757.39 Orphanet:2340 OMIM:612843" -MONDO:0017571 "Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease." "GARD:0004525 OMIM:158350 SCTID:716862002 GARD:0012801 ICD10:Q87.3 Orphanet:2969" +MONDO:0000136 "Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." "OMIM:308800 GARD:0006829 MESH:C536159 SCTID:238626006 ICD10CM:Q82.8 OMIM:604093 ICD9:757.39 Orphanet:2340 OMIM:612843" +MONDO:0017571 "Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease." "GARD:0004525 OMIM:158350 SCTID:716862002 ICD10CM:Q87.3 GARD:0012801 Orphanet:2969" CHEBI:76741 "An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on hydrogen as donors (EC 1.14.*.*)." MONDO:0030947 "OMIM:619173" MONDO:0015319 "UMLS:CN199290 Orphanet:138044" -MONDO:0013789 "DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1)." "ICD10:E77.8 SCTID:733083006 DOID:0080569 Orphanet:300536 GARD:0012398 OMIM:614507 UMLS:C3281084" +MONDO:0013789 "DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1)." "SCTID:733083006 DOID:0080569 Orphanet:300536 ICD10CM:E77.8 GARD:0012398 OMIM:614507 UMLS:C3281084" http://identifiers.org/hgnc/14000 -MONDO:0017714 "UMLS:C0268635 Orphanet:309120 SCTID:82319005 ICD10:E71.3" -MONDO:0005855 "A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed)" "DOID:8867 ICD10:B08.1 UMLS:C0026393 EFO:0007375 ICD9:078.0 SCTID:40070004 MESH:D008976" +MONDO:0017714 "UMLS:C0268635 Orphanet:309120 SCTID:82319005 ICD10CM:E71.3" +MONDO:0005855 "A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed)" "DOID:8867 UMLS:C0026393 EFO:0007375 ICD9:078.0 SCTID:40070004 ICD10CM:B08.1 MESH:D008976" MONDO:0019014 MONDO:0000781 "A fruit allergy triggered by Prunus avium plant fruit food product." "DOID:0060506" MONDO:0003158 "An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma." "NCIT:C7596 GARD:0010558 DOID:4838 UMLS:C0334699 ONCOTREE:STMYEC ICDO:8982/3" HsapDv:0000129 "Adult stage that refers to an adult who is over 35 and under 36." SO:0001268 "A gene that encodes a small nuclear RNA." MONDO:0044315 "Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100)." "UMLS:C4479496 OMIM:617439" -MONDO:0006713 "New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation." "MedDRA:10011031 DOID:11382 ICD9:370.60 MESH:D016510 ICD10:H16.4 UMLS:C0085109 ICD9:370.6 ICD10:H16.40 SCTID:19161004 EFO:1000880" +MONDO:0006713 "New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation." "MedDRA:10011031 DOID:11382 ICD9:370.60 MESH:D016510 UMLS:C0085109 ICD9:370.6 SCTID:19161004 EFO:1000880" http://identifiers.org/hgnc/11768 MONDO:0005325 "Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken." "NCIT:C99039 EFO:0003957 SCTID:12676007 MESH:D011885" UBERON:0009655 UBERON:4000170 -MONDO:0015826 "Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." "UMLS:CN200437 ICD10:Q76.4 Orphanet:1797 UMLS:C4274761 OMIM:122600 SCTID:716232002" +MONDO:0015826 "Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." "UMLS:CN200437 ICD10CM:Q76.4 Orphanet:1797 UMLS:C4274761 OMIM:122600 SCTID:716232002" MONDO:0021246 "A neoplasm (disease) that involves the pharynx." "NCIT:C3325" -MONDO:0024355 "Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases." "ICD9:519.8 MESH:D012141 SCTID:275498002" +MONDO:0024355 "Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases." "ICD9:519.8 MESH:D012141 ICD10CM:J30-J39 SCTID:275498002 ICD10CM:J00-J06" HP:0001276 "A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move." "UMLS:C0026826 SNOMEDCT_US:56731001 SNOMEDCT_US:41581000 MSH:D009122" http://identifiers.org/hgnc/1958 -MONDO:0018141 "Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." "Orphanet:353308 OMIM:266150 ICD10:E74.4 UMLS:CN204538" +MONDO:0018141 "Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." "ICD10CM:E74.4 Orphanet:353308 OMIM:266150 UMLS:CN204538" GO:0050910 "The series of events involved in the perception of sound vibration in which the vibration is received and converted into a molecular signal." MONDO:0015318 -MONDO:0017715 "OMIM:231530 ICD10:E71.3 Orphanet:309127" +MONDO:0017715 "ICD10CM:E71.3 OMIM:231530 Orphanet:309127" MONDO:0019279 http://identifiers.org/hgnc/3255 MONDO:0012937 "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene." "UMLS:C0265265 OMIM:612561 Orphanet:124" -MONDO:0009016 "The deposition of calcium on the cornea, resulting in pain and decreased visual acuity." "MESH:C562399 UMLS:C0155120 SCTID:35055000 NCIT:C118765 ICD9:371.43 ICD10:H18.42 OMIM:217500 DOID:11164" +MONDO:0009016 "The deposition of calcium on the cornea, resulting in pain and decreased visual acuity." "MESH:C562399 UMLS:C0155120 SCTID:35055000 NCIT:C118765 ICD9:371.43 OMIM:217500 DOID:11164" HP:0010990 "An abnormality of blood coagulation, common pathway." "UMLS:C4023609" UBERON:0005953 CHEBI:60924 "A sulfated glycosaminoglycan, a linear polymer that consists of the repeating disaccharide [3)-beta-Gal-(1->4)-beta-GlcNAc-(1->] and containing sulfo groups located at random positions." @@ -17980,8 +17972,8 @@ MONDO:0022405 "Orphanet:156180" MONDO:0013105 "OMIM:613062 UMLS:C2751601" UBERON:0004756 http://identifiers.org/hgnc/10560 -MONDO:0002629 "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs." "NCIT:C53707 Orphanet:668 GARD:0007284 ICD10:C41.9 SCTID:307576001 DOID:3376 MESH:D012516 OMIM:259500 ICD9:170.9 MedDRA:10031291" -MONDO:0007334 "Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." "ICD10:Q87.2 Orphanet:1300 UMLS:CN199177 OMIM:119500 GARD:0003242 UMLS:C0265259 SCTID:718222000" +MONDO:0002629 "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs." "NCIT:C53707 Orphanet:668 GARD:0007284 SCTID:307576001 DOID:3376 MESH:D012516 OMIM:259500 ICD10CM:C41.9 ICD9:170.9 MedDRA:10031291" +MONDO:0007334 "Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail." "ICD10CM:Q87.2 Orphanet:1300 UMLS:CN199177 OMIM:119500 GARD:0003242 UMLS:C0265259 SCTID:718222000" MONDO:0021445 "A benign neoplasm that involves the oral cavity." "UMLS:C0347197 ICD9:210.4 SCTID:419645003 NCIT:C7607" MPATH:603 "Anatomically located instance of pathological response or entity." CL:0000335 "A mesenchymal cell in embryonic development found in a contracting mass and that gives rise to osteoprogenitors." @@ -17992,12 +17984,12 @@ GO:0016229 "Catalysis of an oxidation-reduction (redox) reaction in which one su UBERON:0012193 GO:0002703 "Any process that modulates the frequency, rate, or extent of leukocyte mediated immunity." MONDO:0013106 "UMLS:C2751600 OMIM:613063" -MONDO:0015483 "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)" "ICD10:Q75.4 MESH:D008342 Orphanet:155899 MedDRA:10051456" +MONDO:0015483 "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)" "MESH:D008342 Orphanet:155899 MedDRA:10051456" MONDO:0004196 "A biphasic rectal carcinoma with a spindle cell, sarcomatoid component." "NCIT:C5556 UMLS:C1335689 DOID:7356" -MONDO:0016038 "A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells." "UMLS:C0553647 SCTID:703614006 Orphanet:199260 NCIT:C4818 ICD10:M72.8" +MONDO:0016038 "A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells." "UMLS:C0553647 SCTID:703614006 Orphanet:199260 ICD10CM:M72.8 NCIT:C4818" GO:2000836 "Any process that activates or increases the frequency, rate or extent of androgen secretion." -MONDO:0014030 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene." "OMIM:615067 Orphanet:244 UMLS:C3540844 DOID:0110625 ICD10:Q34.8" -MONDO:0005300 "Impairment of the renal function secondary to chronic kidney damage persisting for three or more months." "SCTID:46177005 MESH:D051436 SCTID:90688005 DOID:784 SCTID:709044004 MESH:D007676 EFO:0003884 NCIT:C80078 ICD9:585 NCIT:C9438 UMLS:C0022661 ICD9:585.6 ICD10:N18.9" +MONDO:0014030 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene." "OMIM:615067 Orphanet:244 UMLS:C3540844 DOID:0110625" +MONDO:0005300 "Impairment of the renal function secondary to chronic kidney damage persisting for three or more months." "SCTID:46177005 MESH:D051436 SCTID:90688005 ICD10CM:N17-N19 DOID:784 SCTID:709044004 MESH:D007676 EFO:0003884 NCIT:C80078 ICD10CM:N18.9 ICD9:585 NCIT:C9438 UMLS:C0022661 ICD9:585.6" UBERON:0005956 UBERON:0003559 MONDO:0011937 "Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene." "UMLS:C4225407 OMIM:607936 Orphanet:289586 UMLS:C1842797 MESH:C564309" @@ -18005,30 +17997,30 @@ UBERON:4000162 HP:0001541 "Accumulation of fluid in the peritoneal cavity." "SNOMEDCT_US:389026000 MSH:D001201 UMLS:C0003962" MONDO:0019767 "Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome." "Orphanet:93946 UMLS:CN206702" MONDO:0000189 -MONDO:0009149 "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998." "ICD10:Q87.8 OMIM:225040 MESH:C565605 Orphanet:1812 UMLS:C1857053" +MONDO:0009149 "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998." "OMIM:225040 ICD10CM:Q87.8 MESH:C565605 Orphanet:1812 UMLS:C1857053" MONDO:0015215 "A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome." "Orphanet:108977" -MONDO:0009479 "A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability." "OMIM:260450 GARD:0000080 UMLS:C1850081 DOID:14694 UMLS:C0175692 Orphanet:2315 OMIM:243800 ICD10:Q87.8 EFO:0001063 ICD9:759.89 MESH:C535880 MESH:C564907 SCTID:75979009" +MONDO:0009479 "A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability." "OMIM:260450 GARD:0000080 UMLS:C1850081 DOID:14694 UMLS:C0175692 Orphanet:2315 OMIM:243800 EFO:0001063 ICD9:759.89 MESH:C535880 MESH:C564907 ICD10CM:Q87.8 SCTID:75979009" MONDO:0006634 "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes." "NCIT:C6780 DOID:5392 UMLS:C0001433 ICDO:8280/0 MESH:D000239 EFO:1000791" -MONDO:0011081 "Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995." "GARD:0001428 MESH:C563315 UMLS:C1832353 SCTID:763755009 OMIM:601450 Orphanet:2412 ICD10:Q87.2" +MONDO:0011081 "Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995." "GARD:0001428 MESH:C563315 UMLS:C1832353 ICD10CM:Q87.2 SCTID:763755009 OMIM:601450 Orphanet:2412" NCBITaxon:71585 "PMID:25185665 GC_ID:1 PMID:23556024" HP:0009755 "Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue." "UMLS:C1302999 SNOMEDCT_US:193953008 SNOMEDCT_US:400952003 UMLS:C0339182 MSH:C536373" MONDO:0021913 "Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success." "ICD9:698.8 SCTID:238695001 GARD:0010278 UMLS:C0406409" -MONDO:0009958 "A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues." "DOID:10582 OMIM:266510 MESH:C535517 Orphanet:773 ICD9CM:356.3 OMIM:600964 SCTID:25362006 ICD10:G60.1 MedDRA:10038275 OMIM:266500 NCIT:C85043 ICD9:272.8 MESH:D012035 GARD:0005691 UMLS:C1833022 GARD:0004371" +MONDO:0009958 "A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues." "DOID:10582 OMIM:266510 ICD10CM:G60.1 Orphanet:773 ICD9CM:356.3 OMIM:600964 SCTID:25362006 MedDRA:10038275 OMIM:266500 NCIT:C85043 ICD9:272.8 MESH:D012035 GARD:0005691 GARD:0004371" MONDO:0025169 MONDO:0020006 -MONDO:0002226 "An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary." "ICD9:016.60 UMLS:C0275932 ICD10:A18.17 ICD9:016.6 SCTID:84194006 DOID:2148" +MONDO:0002226 "An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary." "ICD9:016.60 UMLS:C0275932 ICD9:016.6 SCTID:84194006 DOID:2148" MONDO:0023607 "GARD:0003201 MESH:C537882 UMLS:C2931651" UBERON:0003554 http://identifiers.org/hgnc/11763 -MONDO:0011561 "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24." "DOID:0110038 ICD10:G30 OMIM:605526 MESH:C565325" -MONDO:0009853 "Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood." "ICD10:D51.1 ICD9:281.3 GARD:0007006 OMIMPS:261100 SCTID:360495000 Orphanet:35858" +MONDO:0011561 "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24." "DOID:0110038 ICD10CM:G30 OMIM:605526 MESH:C565325" +MONDO:0009853 "Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood." "ICD9:281.3 ICD10CM:D51.1 GARD:0007006 OMIMPS:261100 SCTID:360495000 Orphanet:35858" http://identifiers.org/hgnc/28636 MONDO:0006349 "A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures." "NCIT:C4179 UMLS:C0334357 EFO:1000448" UBERON:4000167 MONDO:0023599 "A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae)." "SCTID:205473008 UMLS:C0410536 NCIT:C121156" MONDO:0000188 "OMIMPS:606777" http://identifiers.org/hgnc/1960 -MONDO:0019978 "Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." "OMIM:616331 OMIM:268310 OMIM:180700 GARD:0000312 UMLS:C0265205 UMLS:CN776872 SCTID:76520005 NCIT:C85048 OMIMPS:268310 Orphanet:97360 DOID:0060254 ICD10:Q87.1 OMIM:616894" +MONDO:0019978 "Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." "OMIM:616331 OMIM:268310 OMIM:180700 GARD:0000312 UMLS:C0265205 ICD10CM:Q87.1 UMLS:CN776872 SCTID:76520005 NCIT:C85048 OMIMPS:268310 Orphanet:97360 DOID:0060254 OMIM:616894" MONDO:0014047 "Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene." "UMLS:C3554518 Orphanet:201 OMIM:615108" MONDO:0030941 "OMIM:619209" MONDO:0013108 "UMLS:C2751595 Orphanet:513 OMIM:613065" @@ -18043,7 +18035,7 @@ UBERON:0003553 MONDO:0002741 "A rare adenocarcinoma that arises from the uterine ligament." "NCIT:C40135 DOID:3700 UMLS:C1519866" http://identifiers.org/hgnc/11762 PATO:0001672 "A distribution which is relatively low." -MONDO:0016396 "Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." "SCTID:718610008 GARD:0010704 UMLS:C1843504 OMIM:607596 ICD10:Q04.3 Orphanet:2254 OMIM:616081 OMIM:614678 MESH:C548069" +MONDO:0016396 "Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." "SCTID:718610008 GARD:0010704 UMLS:C1843504 OMIM:607596 ICD10CM:Q04.3 Orphanet:2254 OMIM:616081 OMIM:614678 MESH:C548069" GO:0032278 "Any process that activates or increases the frequency, rate or extent of the regulated release of a gonadotropin." GO:1903829 "Any process that activates or increases the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell." GO:0048585 "Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus." @@ -18051,7 +18043,7 @@ MONDO:0021299 "A in situ carcinoma that involves the extrahepatic bile duct." "U UBERON:0002355 MONDO:0000244 "A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell." "DOID:0050105" MONDO:0022409 "Orphanet:156162" -MONDO:0018661 "Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy." "ICD10:U06 UMLS:CN237724 DOID:0060478 ICD10:A92.5 MESH:D000071243 UMLS:C0276289 NCIT:C128423 Orphanet:448237 SCTID:3928002 GARD:0012894 ICD10:A92.8" +MONDO:0018661 "Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy." "UMLS:CN237724 DOID:0060478 MESH:D000071243 ICD10CM:A92.5 UMLS:C0276289 NCIT:C128423 Orphanet:448237 SCTID:3928002 GARD:0012894" MONDO:0013109 "Orphanet:513 OMIM:613067 UMLS:C2751593" MONDO:0006213 "A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth." "NCIT:C8178 EFO:1000260 UMLS:C0280310" NCBITaxon:71583 "GC_ID:1" @@ -18063,28 +18055,28 @@ NCBITaxon:1716 "PMID:29760685 PMID:7547291 GC_ID:11 PMID:30186281 PMID:7547284 CHR:9606-chr15q HP:0007313 "SNOMEDCT_US:52522001 UMLS:C0154671 SNOMEDCT_US:418143002" MONDO:0023605 "ICD9:528.9 SCTID:238706002 UMLS:C0406425 GARD:0009669" -MONDO:0020456 "Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur." "Orphanet:99131 ICD10:Q24.8" +MONDO:0020456 "Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur." "ICD10CM:Q24.8 Orphanet:99131" UBERON:0003556 NCBITaxon:186826 "GC_ID:11" -MONDO:0008980 "Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome." "SCTID:715984007 DOID:0111265 ICD10:G11.8 OMIM:215470 Orphanet:1180 UMLS:C1859093 MESH:C565850 GARD:0000944" +MONDO:0008980 "Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome." "SCTID:715984007 DOID:0111265 ICD10CM:G11.8 OMIM:215470 Orphanet:1180 UMLS:C1859093 MESH:C565850 GARD:0000944" MONDO:0005755 "Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions." "EFO:0007263 MESH:D004859 UMLS:C0014661" -MONDO:0007374 "Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." "OMIM:121800 MESH:C535475 SCTID:419395007 GARD:0009277 DOID:0060456 Orphanet:98967 ICD10:H18.5" +MONDO:0007374 "Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." "OMIM:121800 MESH:C535475 SCTID:419395007 GARD:0009277 DOID:0060456 ICD10CM:H18.5 Orphanet:98967" MONDO:0001951 "A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia." "DOID:14374 GARD:0012151 NCIT:C34855 SCTID:128870005 UMLS:C0028425" ENVO:01001510 "A material transformation process during which a material's viscosity increase either through a reduction in temperature, through chemical reactions, or other physical effects." UBERON:0002358 GO:0051782 "Any process that stops, prevents, or reduces the frequency, rate or extent of cell division." GO:0019232 "The series of events by which an organism senses the speed and direction of movement of the body and its parts." -MONDO:0008369 "Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." "OMIM:179830 ICD10:N25.8 SCTID:24790002 Orphanet:47159 ICD9:588.89 OMIM:604278 MedDRA:10037080" +MONDO:0008369 "Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis." "ICD10CM:N25.8 OMIM:179830 SCTID:24790002 Orphanet:47159 ICD9:588.89 OMIM:604278 MedDRA:10037080" GO:0010469 "Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity." UBERON:0004753 http://identifiers.org/hgnc/1962 -MONDO:0003330 "Blockage of the normal flow of contents of the urinary tract." "NCIT:C79805 SCTID:7163005 ICD9:599.60 DOID:5200 UMLS:C0178879 NCIT:C3675 ICD10:N13.9 ICD9:599.6" +MONDO:0003330 "Blockage of the normal flow of contents of the urinary tract." "NCIT:C79805 SCTID:7163005 ICD9:599.60 DOID:5200 UMLS:C0178879 NCIT:C3675 ICD9:599.6" MONDO:0007573 "An instance of acute erythroleukemia that is caused by an inherited modification of the individual's genome." "ICD9:207.0 NCIT:C8923 OMIM:133180 Orphanet:318 UMLS:C0023440 EFO:0000218 MESH:C565039" -MONDO:0016064 "Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees." "MedDRA:10009269 SCTID:63567004 NCIT:C87069 ICD10:Q35.9 ICD10:Q35.1 ICD10:Q35 ICD10:Q35.3 DOID:674 ICD10:Q35.7 UMLS:C0008925 ICD9:749.0 OMIM:119540 ICD10:Q35.5 Orphanet:99772 MESH:D002972 ICD9:749.00 Orphanet:2014" +MONDO:0016064 "Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees." "MedDRA:10009269 NCIT:C87069 SCTID:63567004 ICD10CM:Q35.5 DOID:674 ICD10CM:Q35.3 ICD10CM:Q35.9 UMLS:C0008925 ICD9:749.0 OMIM:119540 Orphanet:99772 ICD10CM:Q35.7 MESH:D002972 ICD9:749.00 ICD10CM:Q35.1 Orphanet:2014" http://identifiers.org/hgnc/257 NCBITaxon:4479 "GC_ID:1" -MONDO:0014309 "OMIM:615703 UMLS:C3810324 ICD10:E66.8 Orphanet:397615" -MONDO:0018852 "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function." "DOID:13911 OMIM:262300 OMIM:616517 ICD10:H53.51 ICD9:368.54 OMIM:216900 OMIM:610024 ICD10:H53.5 MedDRA:10000454 OMIM:613856 OMIM:613093 UMLS:C0152200 Orphanet:49382 SCTID:102450007 NCIT:C84528" +MONDO:0014309 "OMIM:615703 UMLS:C3810324 ICD10CM:E66.8 Orphanet:397615" +MONDO:0018852 "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function." "DOID:13911 OMIM:262300 OMIM:616517 ICD9:368.54 OMIM:216900 OMIM:610024 MedDRA:10000454 OMIM:613856 OMIM:613093 UMLS:C0152200 Orphanet:49382 SCTID:102450007 ICD10CM:H53.5 ICD10CM:H53.51 NCIT:C84528" GO:1903020 "Any process that activates or increases the frequency, rate or extent of glycoprotein metabolic process." MONDO:0000186 HP:0025408 "Any anomaly of the structure of the spleen." @@ -18100,7 +18092,7 @@ GO:0042069 "Any process that modulates the frequency, rate or extent of the chem http://identifiers.org/hgnc/1961 UBERON:0010890 NCBITaxon:88456 "GC_ID:1" -MONDO:0019898 "Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported." "Orphanet:96150 ICD10:Q93.5" +MONDO:0019898 "Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported." "Orphanet:96150 ICD10CM:Q93.5" UBERON:0001159 CHEBI:24745 "Any member of the class of pyridines with at least one hydroxy substituent." MONDO:0006849 "Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men." "MESH:D008413 EFO:1001034 NCIT:C53662 UMLS:C0392317 MedDRA:10026883 DOID:10690 SCTID:45198002 UMLS:C0024894" @@ -18122,12 +18114,12 @@ MONDO:0005765 "A viral infectious disease that results in infection in cattle an MONDO:0005355 "Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." "UMLS:C0948480 EFO:0004224 MESH:D023903 DOID:4247" MONDO:0011800 "Orphanet:182067 OMIM:607248 UMLS:C2750944" UBERON:0003550 -MONDO:0006815 "A malignant neoplasm involving the jejunum." "DOID:13499 UMLS:C0153427 SCTID:363404008 ICD9:152.1 EFO:1000998 MedDRA:10023166 MESH:D007580 ICD10:C17.1" +MONDO:0006815 "A malignant neoplasm involving the jejunum." "DOID:13499 UMLS:C0153427 SCTID:363404008 ICD9:152.1 EFO:1000998 MedDRA:10023166 MESH:D007580" MONDO:0021205 "A disease that involves the ear." "UMLS:C0013447 ICD9:388.8 NCIT:C26757 SCTID:25906001 ICD9:388.9" UBERON:0010891 MONDO:0017982 MONDO:0015321 -MONDO:0013362 "OMIM:613680 ICD10:Q87.0 Orphanet:363444 UMLS:C3150939" +MONDO:0013362 "OMIM:613680 ICD10CM:Q87.0 Orphanet:363444 UMLS:C3150939" MONDO:0044218 "OMIM:109600" MONDO:0006027 "A synovial sarcoma (disease) that involves the breast." "EFO:1000019" UBERON:0001154 @@ -18138,8 +18130,8 @@ MONDO:0010868 "GARD:0009165 OMIM:600332 DOID:0070308 Orphanet:97238" MONDO:0044216 "OMIM:108320" MONDO:0020003 "Orphanet:97965 UMLS:CN206936" CL:2000091 "Any microvascular endothelial cell that is part of a endometrial blood vessel." -MONDO:0018835 "Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins." "SCTID:715140008 ICD9:573.8 UMLS:CN205145 Orphanet:48372 GARD:0010929 ICD10:K76.8" -MONDO:0008680 "MESH:C536853 GARD:0008559 Orphanet:654 OMIM:194071" +MONDO:0018835 "Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins." "SCTID:715140008 ICD9:573.8 ICD10CM:K76.8 UMLS:CN205145 Orphanet:48372 GARD:0010929" +MONDO:0008680 "MESH:C536853 OMIM:605982 GARD:0008559 Orphanet:654 OMIM:194071" MONDO:0022662 "GARD:0001129" MONDO:0016784 "UMLS:C1135868 SCTID:416402001 ONCOTREE:GTD Orphanet:254685 ICD9:631" GO:0048878 "Any biological process involved in the maintenance of an internal steady state of a chemical." @@ -18147,10 +18139,10 @@ UBERON:0001153 MONDO:0002132 "A malignant neoplasm involving the skull." "DOID:1863 NCIT:C3375" MONDO:0011782 "Small breaks in the elastin-filled tissue of the retina." "DOID:13401 UMLS:C0002982 EFO:1000805 MedDRA:10066191 OMIM:607140 MESH:D000793 SCTID:86103006" MONDO:0015320 -MONDO:0019365 "Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious." "EFO:0007480 ICD10:A75.3 MESH:D012612 ICD9:081.2 MedDRA:10039766 DOID:13371 SCTID:271425001 UMLS:C0036472 Orphanet:83317" +MONDO:0019365 "Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious." "EFO:0007480 Orphanet:83317 ICD9:081.2 UMLS:C0036472 DOID:13371 MedDRA:10039766 MESH:D012612 SCTID:271425001" GO:0050767 "Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system." MONDO:0003934 "An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles." "NCIT:C5141 UMLS:C1332316 DOID:6581" -MONDO:0013363 "Orphanet:1836 DOID:0060458 UMLS:C3150940 OMIM:613681" +MONDO:0013363 "Orphanet:294026 Orphanet:1836 DOID:0060458 UMLS:C3150940 OMIM:613681 UMLS:CN203162" MONDO:0100481 "Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease." MONDO:0015356 "The inherited predisposition toward getting a tumor." "NCIT:C3266 UMLS:C0027672 UMLS:CN199448 UMLS:CN882908 MESH:D009386 SCTID:699346009 Orphanet:140162" UBERON:0003552 @@ -18158,35 +18150,35 @@ MONDO:0044215 "OMIM:107850" MONDO:0010605 "OMIM:306930" MONDO:0005924 MONDO:0009035 "Autosomal recessive form of craniometaphyseal dysplasia." "GARD:0001582 Orphanet:1522 OMIM:218400 MESH:C536570" -MONDO:0016783 "Orphanet:254534 ICD10:Q99.8 UMLS:CN202039" +MONDO:0016783 "Orphanet:254534 ICD10CM:Q99.8 UMLS:CN202039" CHEBI:35789 -MONDO:0007691 "A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy." "MedDRA:10057645 SCTID:716723000 Orphanet:98916 OMIM:139393 ICD10:G61.8 GARD:0006102" -MONDO:0011517 "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery." "OMIM:605115 MESH:C565359 ICD10:I15.1 UMLS:C1854631 SCTID:766937004 Orphanet:88660" +MONDO:0007691 "A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy." "MedDRA:10057645 SCTID:716723000 Orphanet:98916 OMIM:139393 ICD10CM:G61.8 GARD:0006102" +MONDO:0011517 "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery." "OMIM:605115 MESH:C565359 ICD10CM:I15.1 UMLS:C1854631 SCTID:766937004 Orphanet:88660" CHR:9606-chrXp11.3 MONDO:0014562 "DOID:0070244 UMLS:C4225392 OMIM:616276 Orphanet:457185" -MONDO:0013808 "Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas." "Orphanet:163634 DOID:0060221 OMIM:614569 GARD:0006958 UMLS:C0024454 ICD10:Q78.4 OMIM:166000 NCIT:C3213 SCTID:46041001" +MONDO:0013808 "Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas." "Orphanet:163634 ICD10CM:Q78.4 DOID:0060221 OMIM:614569 GARD:0006958 UMLS:C0024454 OMIM:166000 NCIT:C3213 SCTID:46041001" MONDO:0005911 "A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus." "DOID:13801 EFO:0007434 UMLS:C0031351 ICD9:077.2 SCTID:70385007 NCIT:C34924 MESH:D000258" UBERON:0010893 UBERON:0000105 "A spatiotemporal region encompassing some part of the life cycle of an organism." CHEBI:25985 "An amino acid derivative resulting from reaction of alanine at the amino group or the carboxy group, or from the replacement of any hydrogen of phenylalanine by a heteroatom. The definition normally excludes peptides containing phenylalanine residues." MONDO:0005289 "A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "HP:0030072 NCIT:C7488 EFO:0003866 SCTID:126675008 UMLS:C0030470 DOID:1350" -MONDO:0013130 "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene." "OMIM:613094 DOID:0060836 UMLS:C2751307 MESH:C567757 ICD10:Q11.0 Orphanet:2542" -MONDO:0012137 "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)." "ICD10:Q68.8 Orphanet:319340 OMIM:608837" -MONDO:0019884 "Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." "MESH:C538087 SCTID:718689000 Orphanet:96102 ICD10:Q92.3" -MONDO:0020403 "Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation." "Orphanet:99062 ICD10:Q23.3" +MONDO:0013130 "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene." "OMIM:613094 DOID:0060836 UMLS:C2751307 MESH:C567757 Orphanet:2542" +MONDO:0012137 "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)." "ICD10CM:Q68.8 Orphanet:319340 OMIM:608837" +MONDO:0019884 "Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay." "MESH:C538087 SCTID:718689000 Orphanet:96102" +MONDO:0020403 "Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation." "Orphanet:99062 ICD10CM:Q23.3" GO:0042611 "A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen." UBERON:0001156 -MONDO:0014449 "Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA)." "SCTID:718721006 Orphanet:86816 GARD:0013056 NCIT:C124851 ICD10:R77.0 UMLS:C4305253 OMIM:616000" +MONDO:0014449 "Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA)." "SCTID:718721006 Orphanet:86816 GARD:0013056 NCIT:C124851 UMLS:C4305253 OMIM:616000 ICD10CM:R77.0" MONDO:0017980 "Orphanet:3262 GARD:0005092" MONDO:0044214 "OMIM:105570" MONDO:0003526 -MONDO:0007221 "DOID:0110970 UMLS:C1862103 MESH:C537093 ICD10:Q73.8 GARD:0000986 OMIM:113100 Orphanet:93384" +MONDO:0007221 "ICD10CM:Q73.8 UMLS:C1862103 DOID:0110970 MESH:C537093 GARD:0000986 OMIM:113100 Orphanet:93384" MONDO:0007487 "OMIM:127700" -MONDO:0015403 "Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute)." "SCTID:703295003 Orphanet:141179 UMLS:C1275417 ICD10:D18.0 GARD:0010890" -MONDO:0000598 "A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language." "ICD10:R47.01 DOID:0060046" -MONDO:0010426 "X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." "UMLS:C2749049 ICD10:H18.5 DOID:0060446 SCTID:718579008 Orphanet:293621 OMIM:300779 MESH:C567587" -MONDO:0011095 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." "Orphanet:154 OMIM:601494 MESH:C563306 Orphanet:54260 UMLS:C1832243 DOID:0110426 ICD10:I42.0" -MONDO:0016162 "Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person." "ICD10:Q04.3 OMIM:610031 GARD:0010783 Orphanet:208444" +MONDO:0015403 "Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute)." "SCTID:703295003 ICD10CM:D18.0 Orphanet:141179 UMLS:C1275417 GARD:0010890" +MONDO:0000598 "A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language." "ICD10CM:R47.01 DOID:0060046" +MONDO:0010426 "X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." "UMLS:C2749049 ICD10CM:H18.5 DOID:0060446 SCTID:718579008 Orphanet:293621 OMIM:300779 MESH:C567587" +MONDO:0011095 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene." "Orphanet:154 OMIM:601494 MESH:C563306 Orphanet:54260 ICD10CM:I42.0 UMLS:C1832243 DOID:0110426" +MONDO:0016162 "Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person." "OMIM:610031 GARD:0010783 Orphanet:208444 ICD10CM:Q04.3" UBERON:0002353 MONDO:0014563 "GARD:0013019 Orphanet:506 OMIM:616277 UMLS:C4225391" MONDO:0016782 "UMLS:CN202038 Orphanet:254531" @@ -18196,17 +18188,16 @@ HP:0000168 "Any abnormality of the gingiva (also known as gums)." "UMLS:C4021816 UBERON:0010894 MONDO:0011802 "UMLS:C1846573 MESH:C564600 Orphanet:2197 OMIM:607258" http://identifiers.org/hgnc/9350 -MONDO:0006023 MONDO:0006289 "EFO:1000351" MONDO:0010504 "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene." "OMIM:300972 UMLS:C4310819" MONDO:0012040 "An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26." "UMLS:C1838019 OMIM:608448 DOID:0110886 MESH:C563926" MONDO:0019256 "An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process." "UMLS:CN227607 Orphanet:79226" MONDO:0017981 "GARD:0005091 Orphanet:3263 UMLS:CN204137" -MONDO:0021145 "A disease that involves the genitourinary system." "UMLS:C0080276 SCTID:42030000 ICD10:N00.N99" +MONDO:0021145 "A disease that involves the genitourinary system." "UMLS:C0080276 SCTID:42030000 ICD10CM:N00-N99" MONDO:0012167 "UMLS:C1837812 MESH:C563903 Orphanet:334 OMIM:608988" UBERON:0001155 -MONDO:0006606 "A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis." "NCIT:C85057 SCTID:95323007 Orphanet:352763 ICD10:M34.8 UMLS:C0036413 DOID:3140 EFO:1000762 GARD:0005975 MESH:D012592" -MONDO:0009877 "Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." "Orphanet:633 UMLS:C0271568 SCTID:38196001 GARD:0006859 MESH:D046150 DOID:9521 NCIT:C130994 OMIM:262500 ICD10:E34.3" +MONDO:0006606 "A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis." "NCIT:C85057 SCTID:95323007 Orphanet:352763 UMLS:C0036413 DOID:3140 EFO:1000762 GARD:0005975 ICD10CM:M34.8 MESH:D012592" +MONDO:0009877 "Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration." "GARD:0006859 ICD10CM:E34.3 NCIT:C130994 UMLS:C0271568 MESH:D046150 OMIM:262500 Orphanet:633 SCTID:38196001 DOID:9521" MONDO:0001418 "A rare malignant soft tissue neoplasm that arises from the trachea." "DOID:12002 NCIT:C6050 UMLS:C1336774" HP:0000842 "An increased concentration of insulin in the blood." "MSH:D006946 SNOMEDCT_US:83469008 UMLS:C0020459" GO:0005766 "A lysosome before it has fused with a vesicle or vacuole." @@ -18214,11 +18205,11 @@ NCBITaxon:11584 "GC_ID:1" MONDO:0020264 "Orphanet:98694" http://identifiers.org/hgnc/6853 GO:0002701 "Any process that stops, prevents, or reduces the frequency, rate, or extent of the production of molecular mediator of immune response." -MONDO:0016781 "Orphanet:254528 UMLS:CN202037 ICD10:Q93.5" -MONDO:0016432 "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies." "UMLS:CN201390 ICD10:Q87.2 UMLS:C0265264 Orphanet:228184" +MONDO:0016781 "Orphanet:254528 ICD10CM:Q93.5 UMLS:CN202037" +MONDO:0016432 "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies." "UMLS:CN201390 ICD10CM:Q87.2 UMLS:C0265264 Orphanet:228184" UBERON:0019221 http://identifiers.org/hgnc/251 -MONDO:0013610 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene." "ICD10:H35.5 UMLS:C3280041 DOID:0110373 OMIM:614180" +MONDO:0013610 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene." "UMLS:C3280041 DOID:0110373 OMIM:614180" MONDO:0007480 "MESH:C535724 SCTID:72913007 Orphanet:2569 ICD9:759.89 OMIM:127200" CHEBI:25388 "A hydroxybenzoate carrying a single hydroxy substituent at unspecified position." MONDO:0005500 "A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor." "OMIMPS:212065 DOID:0050570 EFO:0005545" @@ -18235,12 +18226,12 @@ http://identifiers.org/hgnc/26498 MONDO:0022400 "Orphanet:156174" MONDO:0006549 "A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium." "NCIT:C5604 EFO:1000699 DOID:8170 NCIT:C4435 SCTID:195469007" MONDO:0022666 "GARD:0010442" -MONDO:0016780 "UMLS:CN202036 Orphanet:254525 ICD10:Q93.5" +MONDO:0016780 "UMLS:CN202036 ICD10CM:Q93.5 Orphanet:254525" GO:0071295 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus." MONDO:0009405 "Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993." "GARD:0001226 OMIM:239840 Orphanet:2218 UMLS:C2931676 UMLS:C1855902 MESH:C565492" MONDO:0006104 "A carotid body paraganglioma that is confined to the site of origin, without metastatic potential." "NCIT:C79950 EFO:1000108 UMLS:C2698359" http://identifiers.org/hgnc/250 -MONDO:0015343 "Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease." "Orphanet:139420 UMLS:CN199396 ICD10:G37.3" +MONDO:0015343 "Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease." "Orphanet:139420 UMLS:CN199396 ICD10CM:G37.3" MONDO:0004366 "A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components." "DOID:7817 UMLS:C0280792 NCIT:C8272" MONDO:0009091 "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated." "OMIM:221750 UMLS:C3489787 GARD:0010603 MESH:C536710 Orphanet:231720" MONDO:0002326 "ICD9:291.89 DOID:251 ICD9:291.8" @@ -18259,16 +18250,16 @@ MONDO:0042915 "GARD:0000258" MONDO:0003521 MONDO:0020266 "Orphanet:98696" NCBITaxon:11320 "GC_ID:1" -MONDO:0044211 "ICD10:L50.1 UMLS:C0157741 ICD9:708.1 SCTID:42265009" +MONDO:0044211 "UMLS:C0157741 ICD9:708.1 ICD10CM:L50.1 SCTID:42265009" MONDO:0010609 GO:0002682 "Any process that modulates the frequency, rate, or extent of an immune system process." -MONDO:0005081 "Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia." "OMIM:609403 OMIMPS:189800 NCIT:C85021 ICD10:O14 ICD9:642.41 OMIM:609404 DOID:10591 ICD10:O14.9 OMIM:609402 Orphanet:275555 MedDRA:10036485 MESH:D011225 ICD10:O14.90 ICD10:O14.1 ICD9:642.40 ICD9:642.43 EFO:0000668 ICD10:O14.2 ICD10:O14.0 SCTID:398254007 ICD9:642.44 OMIM:189800 ICD9:642.42 OMIM:614595" +MONDO:0005081 "Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia." "OMIM:609403 OMIMPS:189800 NCIT:C85021 ICD9:642.41 ICD10CM:O14.0 OMIM:609404 DOID:10591 OMIM:609402 Orphanet:275555 MedDRA:10036485 MESH:D011225 ICD9:642.40 ICD9:642.43 EFO:0000668 ICD10CM:O14.9 SCTID:398254007 ICD9:642.44 OMIM:189800 ICD10CM:O14.1 ICD10CM:O14.2 ICD9:642.42 OMIM:614595" UBERON:0001152 http://identifiers.org/hgnc/25033 MONDO:0013102 "UMLS:C2751605 OMIM:613059" -MONDO:0019109 "CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy." "SCTID:715624006 UMLS:C2931684 MESH:C537980 GARD:0009778 Orphanet:71279 ICD10:G61.8" +MONDO:0019109 "CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy." "ICD10CM:G61.8 SCTID:715624006 UMLS:C2931684 MESH:C537980 GARD:0009778 Orphanet:71279" MONDO:0002589 -MONDO:0020397 "Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations." "Orphanet:99056 ICD10:Q22.8" +MONDO:0020397 "Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations." "ICD10CM:Q22.8 Orphanet:99056" ENVO:01001135 "A terrestrial planet which has a surface dominated by hot deserts." MONDO:0011807 "OMIM:607279" MONDO:0008683 "OMIM:194090 Orphanet:654 MESH:C565991 UMLS:C1860265" @@ -18277,9 +18268,9 @@ NCBITaxon:163158 "GC_ID:1" MONDO:0004722 MONDO:0009881 "SCTID:27270004 MESH:C562705 GARD:0010607 ICD9:253.8 OMIM:262710 UMLS:C0271575" MONDO:0014756 "Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene." "DOID:0111432 OMIM:616736 UMLS:C4225223" -MONDO:0015581 "Orphanet:163631 ICD10:K76.8" +MONDO:0015581 "ICD10CM:K76.8 Orphanet:163631" NCBITaxon:35793 "PMID:17114787 GC_ID:11" -MONDO:0015751 "Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism." "SCTID:720815000 Orphanet:171839 ICD10:Q87.8 UMLS:C3267187" +MONDO:0015751 "Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism." "SCTID:720815000 Orphanet:171839 ICD10CM:Q87.8 UMLS:C3267187" MONDO:0001537 "An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis." "UMLS:C0152814 ICD9:016.41 ICD9:016.4 ICD9:016.42 ICD9:016.40 DOID:1251 SCTID:83652003 ICD9:016.46" UBERON:0011830 MONDO:0014301 "Orphanet:79145 UMLS:C3810286 OMIM:615674" @@ -18287,15 +18278,15 @@ GO:0001569 "The process of coordinated growth and sprouting of blood vessels giv MONDO:0020267 "Orphanet:98697 UMLS:CN227842" MONDO:0014567 "OMIM:616281 Orphanet:477673" http://identifiers.org/hgnc/26230 -MONDO:0019530 "A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly." "NCIT:C87125 ICD10:Q70.1 ICD10:Q70.3 ICD10:Q70.0 MedDRA:10042778 ICD10:Q70.2 UMLS:C0039075 ICD10:Q70.9 Orphanet:90025 ICD10:Q70.4" +MONDO:0019530 "A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly." "NCIT:C87125 ICD10CM:Q70.2 MedDRA:10042778 ICD10CM:Q70.1 UMLS:C0039075 Orphanet:90025 ICD10CM:Q70.9 ICD10CM:Q70.4 ICD10CM:Q70.0 ICD10CM:Q70.3" MONDO:0020001 "Orphanet:97957" MONDO:0010608 "MESH:C564411 UMLS:C1844019 OMIM:306960" HP:0010674 "The presence of an abnormal curvature of the vertebral column." "UMLS:C4023747" -MONDO:0006687 "A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth." "EFO:1000850 MedDRA:10068065 UMLS:C2930806 GARD:0005974 DOID:4331 UMLS:C0006430 SCTID:399165002 ICD10:K14.6 MESH:D002054 Orphanet:353253 UMLS:CN242089 NCIT:C62545" -MONDO:0012195 "Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." "SCTID:715575001 MESH:C563791 ICD10:Q68.8 Orphanet:65720 UMLS:C1836756 OMIM:609128" +MONDO:0006687 "A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth." "EFO:1000850 MedDRA:10068065 UMLS:C2930806 ICD10CM:K14.6 GARD:0005974 DOID:4331 UMLS:C0006430 SCTID:399165002 MESH:D002054 Orphanet:353253 UMLS:CN242089 NCIT:C62545" +MONDO:0012195 "Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." "SCTID:715575001 MESH:C563791 ICD10CM:Q68.8 Orphanet:65720 UMLS:C1836756 OMIM:609128" MONDO:0060782 "A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes." "NCIT:C27274 UMLS:C1335471" UBERON:0010899 -MONDO:0016009 "Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects." "Orphanet:1913 UMLS:C0265373 MESH:C537798 ICD9:759.89 ICD10:Q86.8 SCTID:66351003" +MONDO:0016009 "Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects." "Orphanet:1913 UMLS:C0265373 MESH:C537798 ICD9:759.89 ICD10CM:Q86.8 SCTID:66351003" GO:0032387 "Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances within cells." http://identifiers.org/hgnc/23734 MONDO:0002324 "ICD9:521.31 DOID:2497" @@ -18304,26 +18295,26 @@ GO:0005694 "A structure composed of a very long molecule of DNA and associated p MONDO:0021466 NCBITaxon:163159 "GC_ID:1" MONDO:0100222 "Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene." -MONDO:0000430 "This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma." "DOID:0050749 SCTID:109977009 GARD:0007368 ICDO:9702/3 MESH:D016411 DOID:0050743 ICD10:C84.4 NCIT:C3468" -MONDO:0010551 "X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported." "DOID:0110211 ICD10:G60.0 Orphanet:101077 MESH:C535303 UMLS:C1844865 SCTID:763458005 OMIM:302802 GARD:0001244" -MONDO:0012603 "A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1." "ICD10:G24.8 DOID:0090054 MESH:C567026 UMLS:C1970238 Orphanet:98809 OMIM:611031" +MONDO:0000430 "This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma." "DOID:0050749 SCTID:109977009 GARD:0007368 ICDO:9702/3 MESH:D016411 DOID:0050743 NCIT:C3468 ICD10CM:C84.4" +MONDO:0010551 "X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported." "DOID:0110211 Orphanet:101077 MESH:C535303 UMLS:C1844865 SCTID:763458005 OMIM:302802 GARD:0001244 ICD10CM:G60.0" +MONDO:0012603 "A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1." "DOID:0090054 MESH:C567026 UMLS:C1970238 Orphanet:98809 OMIM:611031" MONDO:0009899 "OMIM:263610 MESH:C564876 UMLS:C1849720" UBERON:0011831 http://identifiers.org/hgnc/20389 MONDO:0009633 "OMIM:251750 UMLS:C3538951 Orphanet:238763" MONDO:0044221 "OMIM:111150" -MONDO:0015400 "Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure." "Orphanet:141168 ICD10:Q27.3" -MONDO:0009650 "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." "ICD10:E77.0 NCIT:C61270 SCTID:70199000 UMLS:C2673377 OMIM:252500 MESH:C538602 Orphanet:576 UMLS:C0020725 DOID:0080070 GARD:0006749" +MONDO:0015400 "Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure." "Orphanet:141168 ICD10CM:Q27.3" +MONDO:0009650 "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly." "NCIT:C61270 SCTID:70199000 UMLS:C2673377 OMIM:252500 MESH:C538602 ICD10CM:E77.0 Orphanet:576 UMLS:C0020725 DOID:0080070 GARD:0006749" MONDO:0016503 "Orphanet:231573" UBERON:0009648 -MONDO:0016818 "Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities)." "UMLS:CN202088 Orphanet:2558 ICD10:E22.8" +MONDO:0016818 "Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities)." "ICD10CM:E22.8 UMLS:CN202088 Orphanet:2558" HP:0000479 "A structural abnormality of the retina." "UMLS:C0035300 SNOMEDCT_US:29555009 UMLS:C0035309 MSH:D012164" ECTO:9001811 "An exposure to protic solvent." -MONDO:0014511 "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene." "OMIM:616155 ICD10:G60.0 Orphanet:443073 UMLS:C4015349 DOID:0110171" +MONDO:0014511 "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene." "OMIM:616155 Orphanet:443073 ICD10CM:G60.0 UMLS:C4015349 DOID:0110171" GO:0003032 "The series of events in which an oxygen stimulus is received by a cell and converted into a molecular signal." MONDO:0008435 "OMIM:182400" GO:0051245 "Any process that stops, prevents, or reduces the rate of the cellular defense response." -MONDO:0017700 "ICD10:E74.0 UMLS:C1856305 Orphanet:308698 OMIM:232500" +MONDO:0017700 "UMLS:C1856305 Orphanet:308698 ICD10CM:E74.0 OMIM:232500" MONDO:0002614 "Inflammation of the bone." "DOID:3342 MESH:D010000 SCTID:274144001 UMLS:C0029400" MONDO:0017966 "UMLS:CN227229 Orphanet:325118" MONDO:0010884 "MESH:C562932 SCTID:240074006 UMLS:C0410192 Orphanet:269 OMIM:600416" @@ -18331,32 +18322,32 @@ http://identifiers.org/hgnc/8149 MONDO:0012595 "Any leprosy in which the cause of the disease is a mutation in the LTA gene." "Orphanet:548 OMIM:610988" MONDO:0042924 "GARD:0000271" MONDO:0009898 "OMIM:263600 MESH:C564877" -MONDO:0006295 "A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." "ICD10:C64.C68 ICD9:189.9 ICD10:C68.9 EFO:1000363 NCIT:C9297 SCTID:448233000 DOID:3996" +MONDO:0006295 "A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas." "ICD9:189.9 EFO:1000363 NCIT:C9297 SCTID:448233000 DOID:3996 ICD10CM:C64-C68" MONDO:0009632 "UMLS:C1968637 OMIM:251700 MESH:C566884" MONDO:0016768 "Orphanet:254373 UMLS:CN226996" -MONDO:0010337 "X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." "SCTID:719136005 GARD:0013093 ICD10:Q04.3 Orphanet:137831 GARD:0009947 OMIM:300486 DOID:0080311 MESH:C537456" +MONDO:0010337 "X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." "SCTID:719136005 GARD:0013093 ICD10CM:Q04.3 Orphanet:137831 GARD:0009947 OMIM:300486 DOID:0080311 MESH:C537456" MONDO:0044220 "OMIM:110800" MONDO:0024658 "A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma." "UMLS:C2205442 NCIT:C5029" CHR:9606-chr15q25 -MONDO:0005079 "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations." "EFO:0000662 ICD10:N84 MESH:D011127 SCTID:441456002 NCIT:C3340" +MONDO:0005079 "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations." "EFO:0000662 ICD10CM:N84 MESH:D011127 SCTID:441456002 NCIT:C3340" GO:0006855 "The process in which a drug is transported across a membrane." -MONDO:0017967 "Orphanet:325124 SCTID:371015003 GARD:0005819 ICD10:Q55.0" -MONDO:0001173 "Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy." "DOID:10973 SCTID:8912009 ICD10:N70.01 NCIT:C40120 UMLS:C0269038" -MONDO:0017701 "Orphanet:308712 UMLS:CN203601 OMIM:232500 ICD10:E74.0" +MONDO:0017967 "Orphanet:325124 SCTID:371015003 ICD10CM:Q55.0 GARD:0005819" +MONDO:0001173 "Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy." "DOID:10973 ICD10CM:N70.01 SCTID:8912009 NCIT:C40120 UMLS:C0269038" +MONDO:0017701 "ICD10CM:E74.0 Orphanet:308712 UMLS:CN203601 OMIM:232500" GO:0017157 "Any process that modulates the frequency, rate or extent of exocytosis." MONDO:0014966 "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene." "UMLS:C4310669 OMIM:617201" HP:0100255 "The presence of dysplastic regions in metaphyseal regions." "UMLS:C0265294 MSH:C536252 SNOMEDCT_US:27837003" CL:0002106 "An IgD-positive CD38-positive IgG memory B cell is a CD38-positive IgG-positive class switched memory B cell that has class switched and expresses IgD on the cell surface with the phenotype IgD-positive, CD38-positive, and IgG-positive." GO:0017111 "Catalysis of the reaction: a nucleoside triphosphate + H2O = nucleoside diphosphate + phosphate." -MONDO:0016767 "ICD10:L43.3 UMLS:CN226995 ICD10:L43.9 ICD10:L66.1 Orphanet:254370 ICD10:L43.8 ICD10:L43.0 ICD10:L43.2 ICD10:L43.1" +MONDO:0016767 "ICD10CM:L43.2 ICD10CM:L43.1 UMLS:CN226995 ICD10CM:L43.0 ICD10CM:L43.3 ICD10CM:L43.8 Orphanet:254370 ICD10CM:L43.9 ICD10CM:L66.1" MONDO:0006488 "An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." "UMLS:C1512974 UMLS:C1519918 DOID:136 EFO:1000618 NCIT:C40278" http://identifiers.org/hgnc/4444 http://identifiers.org/hgnc/16412 -MONDO:0015569 "Orphanet:162521 ICD10:Q30.8" +MONDO:0015569 "Orphanet:162521 ICD10CM:Q30.8" UBERON:0019231 MONDO:0022580 "A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing." "GARD:0000902" MONDO:0021518 "A benign neoplasm that involves the hard palate." "SCTID:92129006 UMLS:C0345552 ICD9:210.4 NCIT:C4403" -MONDO:0017964 "UMLS:CN227228 ICD10:Q56.2 Orphanet:325099" +MONDO:0017964 "ICD10CM:Q56.2 UMLS:CN227228 Orphanet:325099" PATO:0000125 "A physical quality that inheres in a bearer by virtue of the proportion of the bearer's amount of matter." MONDO:0012182 "MESH:C563806 UMLS:C1836898 OMIM:609047" ECTO:4000032 "A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of water." @@ -18365,8 +18356,8 @@ HP:0000826 "The onset of secondary sexual characteristics before a normal age. A GO:0045580 "Any process that modulates the frequency, rate or extent of T cell differentiation." MONDO:0010620 "UMLS:C1843972 Orphanet:94088 OMIM:307830 MESH:C564405" ENVO:01000060 "Particulate material is an environmental material which is composed of microscopic portions of solid or liquid material suspended in another environmental material." -MONDO:0015546 "Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported." "Orphanet:1581 ICD10:Q93.5" -MONDO:0020064 "Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424" "GARD:0004597 SCTID:6996004 ICD10:Q22.2 Orphanet:982" +MONDO:0015546 "Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported." "ICD10CM:Q93.5 Orphanet:1581" +MONDO:0020064 "Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424" "GARD:0004597 SCTID:6996004 Orphanet:982 ICD10CM:Q22.2" MONDO:0009896 "OMIM:263550 UMLS:C1849731 MESH:C535524" MONDO:0009630 "SCTID:715771008 Orphanet:98938 OMIM:251505 UMLS:C1855053" MONDO:0001517 "Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration." "DOID:12384 SCTID:19213003 UMLS:C0013369 ICD9:009.2 MESH:D004403 EFO:1001869 SCTID:111939009" @@ -18374,23 +18365,23 @@ GO:0015926 "Catalysis of the hydrolysis of glucosyl compounds, substances contai MONDO:0020251 "UMLS:CN207070 Orphanet:98681" UBERON:0009647 GO:0098802 "Any protein complex that is part of the plasma membrane and which functions as a signaling receptor." -MONDO:0016013 "Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury." "Orphanet:1917 GARD:0003575 MESH:D020262 ICD9:759.89 SCTID:62110005 ICD10:T56.1" +MONDO:0016013 "Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury." "Orphanet:1917 GARD:0003575 MESH:D020262 ICD9:759.89 SCTID:62110005 ICD10CM:T56.1" http://identifiers.org/hgnc/12718 -MONDO:0015568 "ICD10:Q30.8 Orphanet:162516" +MONDO:0015568 "ICD10CM:Q30.8 Orphanet:162516" CL:0010005 "A specialized cardiomyocyte that transmit signals from the AV node to the cardiac Purkinje fibers." MONDO:0017965 "UMLS:CN204115 Orphanet:325109" MONDO:0008432 "OMIM:182270" MONDO:0012183 "Orphanet:618 OMIM:609048" -MONDO:0001384 "The condition in which the individual does not see far distances clearly." "DOID:11830 OMIMPS:160700 NCIT:C102533 HP:0000545 EFO:0003927 MESH:D009216 ICD9:367.1 SCTID:57190000 ICD10:H52.1 UMLS:C0027092" -MONDO:0018394 "Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail." "OMIM:102530 SCTID:764096006 OMIM:243060 UMLS:CN252642 ICD10:N46 GARD:0012514 OMIM:613958 Orphanet:399808 OMIM:615413" +MONDO:0001384 "The condition in which the individual does not see far distances clearly." "DOID:11830 OMIMPS:160700 NCIT:C102533 HP:0000545 EFO:0003927 MESH:D009216 ICD9:367.1 SCTID:57190000 ICD10CM:H52.1 UMLS:C0027092" +MONDO:0018394 "Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail." "OMIM:102530 SCTID:764096006 OMIM:243060 ICD10CM:N46 UMLS:CN252642 GARD:0012514 OMIM:613958 Orphanet:399808 OMIM:615413" MONDO:0005078 "A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors." "NCIT:C2977 MESH:D003557 EFO:0000653" MONDO:0400002 "The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency." http://identifiers.org/hgnc/3247 ECTO:9002059 "An exposure to food packaging gas." http://identifiers.org/hgnc/8148 -MONDO:0011576 "Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." "SCTID:703233008 Orphanet:404 OMIM:605635 ICD10:E26.0 NCIT:C127162 MESH:C565312 UMLS:C1854107 UMLS:C3839212 GARD:0002789" +MONDO:0011576 "Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism." "SCTID:703233008 Orphanet:404 ICD10CM:E26.0 OMIM:605635 NCIT:C127162 MESH:C565312 UMLS:C1854107 UMLS:C3839212 GARD:0002789" MONDO:0010885 "OMIM:600419 UMLS:C1838141 MESH:C563940" -MONDO:0006969 "Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common." "EFO:1001179 ICD10:K11.2 ICD10:K11.20 ICD9:527.2 MedDRA:10040627 DOID:10303 UMLS:C0037023 MESH:D012793 SCTID:42982001 GARD:0007638 NCIT:C115165" +MONDO:0006969 "Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common." "EFO:1001179 ICD9:527.2 MedDRA:10040627 DOID:10303 UMLS:C0037023 MESH:D012793 SCTID:42982001 GARD:0007638 NCIT:C115165" GO:0042640 "The growth phase of the hair cycle. Lasts, for example, about 3 to 6 years for human scalp hair." MONDO:0024857 "An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary." "UMLS:C0855163 NCIT:C8884" MONDO:0007234 "MESH:C566188 UMLS:C1862071 OMIM:113610" @@ -18399,19 +18390,20 @@ http://identifiers.org/hgnc/4446 MONDO:0006471 "An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." "EFO:1000598 DOID:4875 NCIT:C6051 UMLS:C0345945 SCTID:254619006" UBERON:0013139 GO:0016712 "Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from reduced flavin or flavoprotein and one other donor, and one atom of oxygen is incorporated into one donor." -MONDO:0011686 "LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." "Orphanet:99812 MESH:C564694 OMIM:606593 ICD10:D81.1 UMLS:C1847827 DOID:0060021 SCTID:724177005 NCIT:C122657" +MONDO:0011686 "LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." "Orphanet:99812 MESH:C564694 ICD10CM:D81.1 OMIM:606593 UMLS:C1847827 DOID:0060021 SCTID:724177005 NCIT:C122657" MONDO:0011820 "OMIM:607354" CL:0000022 -MONDO:0018129 "Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated." "UMLS:CN204507 Orphanet:352641 SCTID:763348005 ICD10:G11.8" +MONDO:0018129 "Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated." "ICD10CM:G11.8 UMLS:CN204507 Orphanet:352641 SCTID:763348005" MONDO:0022737 "This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain." "GARD:0001312 SCTID:715417002 UMLS:C4275146" -MONDO:0009437 "Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." "DOID:0050655 ICD10:E03.1 SCTID:722375007 GARD:0000414 Orphanet:1226 MESH:C537901 OMIM:241850" +MONDO:0009437 "Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." "DOID:0050655 ICD10CM:E03.1 SCTID:722375007 GARD:0000414 Orphanet:1226 MESH:C537901 OMIM:241850" MONDO:0017962 "UMLS:CN227226 Orphanet:325061" -MONDO:0005377 "A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction." "UMLS:C0027726 OMIM:256370 OMIM:614196 OMIM:600995 OMIM:615573 OMIM:610725 ICD10:N04 ICD9:581.9 EFO:0004255 ICD9:581 OMIM:256300 SCTID:52254009 OMIM:615008 MESH:D009404 DOID:1184 NCIT:C34845 OMIM:615861 OMIM:614199 OMIM:615244" +MONDO:0005377 "A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction." "UMLS:C0027726 OMIM:256370 OMIM:614196 OMIM:600995 OMIM:615573 OMIM:610725 ICD9:581.9 EFO:0004255 ICD9:581 OMIM:256300 SCTID:52254009 OMIM:615008 MESH:D009404 DOID:1184 NCIT:C34845 OMIM:615861 OMIM:614199 OMIM:615244" +MONDO:0022794 "OBSOLETE. A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8." "GARD:0012070" ECTO:0010002 "A exposure event involving the interaction of an exposure receptor to process quality." -MONDO:0010907 "Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria." "DOID:0111703 Orphanet:2224 MESH:C538393 OMIM:600627 GARD:0002871 UMLS:C2931837 ICD10:E70.8 UMLS:C1833562 SCTID:721838005" +MONDO:0010907 "Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria." "DOID:0111703 ICD10CM:E70.8 Orphanet:2224 MESH:C538393 OMIM:600627 GARD:0002871 UMLS:C2931837 UMLS:C1833562 SCTID:721838005" NCIT:C45980 http://identifiers.org/hgnc/17877 -MONDO:0008439 "GARD:0004915 ICD10:G11.4 Orphanet:2816 MESH:C536869 OMIM:182610 UMLS:C1866854" +MONDO:0008439 "GARD:0004915 ICD10CM:G11.4 Orphanet:2816 MESH:C536869 OMIM:182610 UMLS:C1866854" MONDO:0025163 "A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile." "SCTID:82642007 MESH:D050072 UMLS:C0043152" PATO:0002505 "A nucleate quality inhering in a bearer by virtue of the bearer's having one or more nucleus." MONDO:0010015 "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene." "DOID:0060648 OMIM:269400 Orphanet:289499 UMLS:C3151617" @@ -18424,11 +18416,11 @@ http://identifiers.org/hgnc/25280 CL:0000287 http://identifiers.org/hgnc/18810 GO:0140236 "Translation that occurs at the presynapse." -MONDO:0012185 "OMIM:609052 ICD10:Q77.8 GARD:0000458 MESH:C563803 Orphanet:168555 UMLS:C1836862" +MONDO:0012185 "ICD10CM:Q77.8 OMIM:609052 GARD:0000458 MESH:C563803 Orphanet:168555 UMLS:C1836862" CL:1000849 "KUPO:0001056" -MONDO:0004854 "Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms." "DOID:9699 ICD10:P39.1 SCTID:34298002 NCIT:C116815 ICD9:771.6 UMLS:C0029076 MESH:D009878" +MONDO:0004854 "Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms." "DOID:9699 SCTID:34298002 NCIT:C116815 ICD9:771.6 UMLS:C0029076 MESH:D009878" NCIT:C45981 -MONDO:0017963 "Orphanet:325093 UMLS:CN227227 ICD10:Q56.2" +MONDO:0017963 "ICD10CM:Q56.2 Orphanet:325093 UMLS:CN227227" MONDO:0013383 "OMIM:600156 UMLS:C2931739 MESH:C538121 OMIM:613711 Orphanet:388 GARD:0002699" MONDO:0018062 "MESH:C536565 Orphanet:3357 GARD:0005376 UMLS:C2931239" MONDO:0007236 "DOID:0111423 UMLS:C0265234 OMIM:113650 Orphanet:107" @@ -18436,13 +18428,13 @@ MONDO:0006839 "A condition characterized by a combination of ostium secundum atr MONDO:0010625 "OMIM:308220 MESH:C564120 UMLS:C1839982" CL:0002491 "A specialized cell involved in auditory sensory perception." GO:0002887 "Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte mediated immunity." -MONDO:0009293 "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." "OMIM:232600 MedDRA:10018462 MESH:D006012 Orphanet:368 NCIT:C84738 ICD10:E74.0 SCTID:55912009 GARD:0006528 UMLS:C0017924 ICD10:E74.04 DOID:2746" +MONDO:0009293 "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance." "OMIM:232600 MedDRA:10018462 MESH:D006012 Orphanet:368 NCIT:C84738 SCTID:55912009 GARD:0006528 UMLS:C0017924 ICD10CM:E74.0 DOID:2746" MONDO:0013059 "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene." "NCIT:C168564 GARD:0010151 Orphanet:51 OMIM:612952 MESH:C535608" MONDO:0011395 "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene." "DOID:0111013 UMLS:C1858806 MESH:C565827 OMIM:604116 GARD:0010653" MONDO:0017960 http://identifiers.org/hgnc/8143 -MONDO:0010745 "Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." "NCIT:C134941 UMLS:C1839161 SCTID:718196002 DOID:0111767 ICD10:D69.4 MESH:C564050 Orphanet:231393 OMIM:314050" -MONDO:0008198 "Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported." "MESH:C566825 ICD10:Q74.0 UMLS:C1868597 Orphanet:251290 OMIM:168550" +MONDO:0010745 "Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." "NCIT:C134941 UMLS:C1839161 SCTID:718196002 DOID:0111767 ICD10CM:D69.4 MESH:C564050 Orphanet:231393 OMIM:314050" +MONDO:0008198 "Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported." "MESH:C566825 UMLS:C1868597 Orphanet:251290 OMIM:168550 ICD10CM:Q74.0" MONDO:0043283 "EFO:1001855 MESH:C537337 GARD:0008372 UMLS:C0018929 SCTID:34004002" MONDO:0004865 "A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color." "ICD9:381.02 SCTID:52353000 DOID:9736 UMLS:C0395863" MONDO:0100474 "An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations." @@ -18450,23 +18442,23 @@ MONDO:0004231 "A squamous cell carcinoma that arises from the breast parenchyma MONDO:0010624 MONDO:0012586 "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." "OMIM:610947 MESH:C567045 UMLS:C1970440" MONDO:0009634 "GARD:0000357 GARD:0003657 MESH:C537469 OMIM:251800 UMLS:C2931502" -MONDO:0000594 "A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions." "ICD9:299.80 DOID:0060040 NCIT:C97179 MESH:D002659 SCTID:35919005" +MONDO:0000594 "A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions." "ICD9:299.80 DOID:0060040 ICD10CM:F80-F89 NCIT:C97179 MESH:D002659 SCTID:35919005" MONDO:0001226 "Acute inflammation of the conjunctiva characterized by pink or red color in the eyes." "DOID:11213 SCTID:399219006 ICD9:041.89 NCIT:C35704 UMLS:C1313983" -MONDO:0005711 "Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality." "GARD:0001481 ICD10:K44.9 UMLS:C0235833 OMIM:610187 EFO:0007216 DOID:3827 Orphanet:2140 MedDRA:10010439 OMIM:222400 NCIT:C98893 ICD10:Q79.0 ICD10:K44 OMIM:142340 OMIM:306950" +MONDO:0005711 "Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality." "GARD:0001481 UMLS:C0235833 OMIM:610187 EFO:0007216 DOID:3827 Orphanet:2140 MedDRA:10010439 OMIM:222400 NCIT:C98893 OMIM:142340 OMIM:306950" MONDO:0004204 "A squamous papilloma that involves the zone of skin." "UMLS:C0345983 SCTID:254661000 NCIT:C4462 DOID:7380" MONDO:0007783 "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene." "Orphanet:423 GARD:0003363 OMIM:145600 Orphanet:99741 EFO:0009071 UMLS:CN031421 UMLS:C0024591 MESH:C535694" MONDO:0000531 "A mucoepidermoid carcinoma that involves the bronchus." "DOID:0050916" UBERON:0013136 -MONDO:0018675 "A IgG4-related disease that involves the eye." "Orphanet:449563 ICD10:H05.1 UMLS:CN237741" +MONDO:0018675 "A IgG4-related disease that involves the eye." "Orphanet:449563 ICD10CM:H05.1 UMLS:CN237741" GO:0044446 "OBSOLETE. A constituent part of an intracellular organelle, an organized structure of distinctive morphology and function, occurring within the cell. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton but excludes the plasma membrane." -MONDO:0007276 "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal." "SCTID:26445008 ICD10:Q92.8 Orphanet:195 UMLS:C0265493 GARD:0000026 OMIM:115470 MESH:C535918 NCIT:C75477" +MONDO:0007276 "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal." "SCTID:26445008 Orphanet:195 ICD10CM:Q92.8 UMLS:C0265493 GARD:0000026 OMIM:115470 MESH:C535918 NCIT:C75477" GO:0055078 "Any process involved in the maintenance of an internal steady state of sodium ions within an organism or cell." -MONDO:0011330 "Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." "ICD10:G11.2 UMLS:C1963674 GARD:0010474 Orphanet:98761 OMIM:603516 UMLS:C4275023 DOID:0050960 SCTID:715754007 MESH:C566874" +MONDO:0011330 "Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." "ICD10CM:G11.2 UMLS:C1963674 GARD:0010474 Orphanet:98761 OMIM:603516 UMLS:C4275023 DOID:0050960 SCTID:715754007 MESH:C566874" CL:0000080 "A cell which moves among different tissues of the body, via blood, lymph, or other medium." MONDO:0017961 "Orphanet:325055 UMLS:CN227225" GO:0015712 "The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." -MONDO:0011886 "DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." "ICD10:G24.1 SCTID:719278006 OMIM:607671 Orphanet:98807 DOID:0090037 MESH:C564354" -MONDO:0009412 "Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur." "DOID:13724 ICD10:E54 MESH:D012614 NCIT:C35010 UMLS:C0036474 GARD:0010406 EFO:1001169 SCTID:76169001 MedDRA:10039768 OMIM:240400" +MONDO:0011886 "DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement." "SCTID:719278006 OMIM:607671 Orphanet:98807 ICD10CM:G24.1 DOID:0090037 MESH:C564354" +MONDO:0009412 "Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur." "DOID:13724 ICD10CM:E54 MESH:D012614 NCIT:C35010 UMLS:C0036474 GARD:0010406 EFO:1001169 SCTID:76169001 MedDRA:10039768 OMIM:240400" MONDO:0010623 "Orphanet:431 SCTID:2355008 GARD:0009612 OMIM:308200 ICD9:759.89 UMLS:C1839989" CHEBI:17602 "An amino phenol (one of the three possible isomers) which has the single amino substituent located para to the phenolic -OH group." UBERON:0009640 @@ -18477,10 +18469,10 @@ HP:0012211 "An abnormal functionality of the kidney." "UMLS:C0151746 SNOMEDCT_US UBERON:0007245 MONDO:0001140 GO:0032058 "Any process that activates or increases the frequency, rate or extent of translation initiation as a result of a stimulus indicating the organism is under stress." -MONDO:0001505 "Acute hepatitis resulting from ingestion of alcohol." "UMLS:C0001306 ICD10:K70.1 NCIT:C34684 ICD9:571.1 DOID:12351 MESH:D006519 CSP:1754-6978 SCTID:235875008" +MONDO:0001505 "Acute hepatitis resulting from ingestion of alcohol." "ICD10CM:K70.1 UMLS:C0001306 NCIT:C34684 ICD9:571.1 DOID:12351 MESH:D006519 CSP:1754-6978 SCTID:235875008" MONDO:0001420 "Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure." "NCIT:C5122 DOID:1201 ICD9:239.7 UMLS:C1263897 SCTID:126971002" -MONDO:0019307 "Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." "Orphanet:89840 DOID:0060738 SCTID:724225008 Orphanet:79402 GARD:0012922 ICD10:Q81.8 OMIM:226650" -MONDO:0015990 "A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." "ICD10:G24.8 ICD10:G24.4 ICD10:G24.3 Orphanet:1866 ICD10:G24.5" +MONDO:0019307 "Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." "Orphanet:89840 DOID:0060738 SCTID:724225008 Orphanet:79402 GARD:0012922 OMIM:226650 ICD10CM:Q81.8" +MONDO:0015990 "A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." "ICD10CM:G24.5 ICD10CM:G24.4 ICD10CM:G24.8 Orphanet:1866 ICD10CM:G24.3" UBERON:0015796 MONDO:0017709 "Orphanet:309028 UMLS:CN227181" MONDO:0044915 "An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites." "UMLS:C1301194 NCIT:C5904 ONCOTREE:SDCA" @@ -18491,11 +18483,11 @@ CHEBI:83820 "Any amino-acid that is not naturally encoded in the genetic code of GO:0015760 "The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6." MONDO:0028741 "Orphanet:498448" MONDO:0100246 "An inherited susceptibility or predisposition to developing migraines with or without aura." "OMIM:157300 OMIM:613656 OMIMPS:157300" -MONDO:0019932 "Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal." "SCTID:87380008 ICD10:Q52.0 Orphanet:96269" -MONDO:0014110 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene." "Orphanet:98985 Orphanet:91492 UMLS:C3809001 Orphanet:98995 Orphanet:98989 Orphanet:98991 OMIM:615274 DOID:0110251 Orphanet:98994 ICD10:Q12.0" -MONDO:0012523 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene." "UMLS:C1864621 MESH:C566431 ICD10:H35.5 OMIM:610599 DOID:0110405 GARD:0010403" +MONDO:0019932 "Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal." "ICD10CM:Q52.0 SCTID:87380008 Orphanet:96269" +MONDO:0014110 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene." "Orphanet:98985 Orphanet:91492 UMLS:C3809001 Orphanet:98995 Orphanet:98989 Orphanet:98991 OMIM:615274 DOID:0110251 Orphanet:98994" +MONDO:0012523 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene." "UMLS:C1864621 MESH:C566431 DOID:0110405 OMIM:610599 GARD:0010403" http://identifiers.org/hgnc/29812 -MONDO:0021510 "A benign neoplasm that involves the prostate gland." "UMLS:C0154009 SCTID:92308005 NCIT:C3613 ICD10:D29.1 ICD9:222.2" +MONDO:0021510 "A benign neoplasm that involves the prostate gland." "UMLS:C0154009 SCTID:92308005 NCIT:C3613 ICD9:222.2 ICD10CM:D29.1" CHEBI:49023 "A compound that inhibits the action of prostaglandins." MONDO:0003314 "A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma." "NCIT:C40269 DOID:5171 UMLS:C4289585" CHEBI:74634 "Any steroid lactone that is a C23 steroid with a five-membered lactone ring at C-17 and its substituted derivatives. They form the aglycone constituents of cardiac glycosides." @@ -18503,37 +18495,37 @@ MONDO:0056805 "A benign granular cell tumor that involves the nerve." "NCIT:C550 HP:0000534 "An abnormality of the eyebrow." "UMLS:C4011556" MONDO:0028742 "Orphanet:498451" MONDO:0002006 "A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections." "SCTID:41674001 UMLS:C0155504 ICD9:386.31 DOID:1467" -MONDO:0011484 "Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene." "ICD10:I47.2 OMIM:604772 NCIT:C123414 UMLS:C1631597 Orphanet:3286 DOID:0060675 UMLS:C4053736" -MONDO:0018993 "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell." "Orphanet:64746 ICD9:356.0 ICD10:G60.0 SCTID:715665006 DOID:0050539 GARD:0012431 OMIM:604484 OMIM:118230" +MONDO:0011484 "Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene." "OMIM:604772 NCIT:C123414 UMLS:C1631597 Orphanet:3286 DOID:0060675 UMLS:C4053736" +MONDO:0018993 "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell." "Orphanet:64746 ICD9:356.0 ICD10CM:G60.0 SCTID:715665006 DOID:0050539 GARD:0012431 OMIM:604484 OMIM:118230" UBERON:0015794 http://identifiers.org/hgnc/11777 MONDO:0002063 "A benign breast neoplasm characterized by the proliferation of multiple papillomas." "DOID:1634 UMLS:C1332636 NCIT:C6977" UBERON:0007243 GO:0051446 "Any process that activates or increases the frequency, rate or extent of progression through the meiotic cell cycle." GO:0006570 "The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid." -MONDO:0013250 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2." "OMIM:613392 ICD10:H90.3 DOID:0110531 UMLS:C3160740" -MONDO:0015461 "Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial)." "ICD9:756.3 NCIT:C85065 Orphanet:1505 SCTID:205484001 ICD10:Q77.2 MESH:D012779 UMLS:C0036996" +MONDO:0013250 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2." "OMIM:613392 DOID:0110531 UMLS:C3160740" +MONDO:0015461 "Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial)." "ICD9:756.3 NCIT:C85065 Orphanet:1505 SCTID:205484001 ICD10CM:Q77.2 MESH:D012779 UMLS:C0036996" http://identifiers.org/hgnc/1943 MONDO:0009639 UBERON:0013399 http://identifiers.org/hgnc/26219 MONDO:0017706 "Orphanet:309001 UMLS:CN227180" MONDO:0017588 "A neoplasm involving a nail." "Orphanet:300515" -MONDO:0012791 "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA." "OMIM:612073 Orphanet:1933 Orphanet:254803 DOID:0080124 MESH:C567624 GARD:0003681 ICD10:G71.3" +MONDO:0012791 "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA." "OMIM:612073 Orphanet:1933 Orphanet:254803 DOID:0080124 MESH:C567624 ICD10CM:G71.3 GARD:0003681" NCBITaxon:86056 "GC_ID:1" http://identifiers.org/hgnc/12974 GO:0005577 "A highly soluble, elongated protein complex found in blood plasma and involved in clot formation. It is converted into fibrin monomer by the action of thrombin. In the mouse, fibrinogen is a hexamer, 46 nm long and 9 nm maximal diameter, containing two sets of nonidentical chains (alpha, beta, and gamma) linked together by disulfide bonds." http://identifiers.org/hgnc/10313 ECTO:9001628 "An exposure to gas molecular entity." http://identifiers.org/hgnc/21580 -MONDO:0014142 "Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency." "Orphanet:363623 GARD:0012544 UMLS:C3714932 ICD10:G71.2 OMIM:615352 ICD10:G71.0 DOID:0110294" +MONDO:0014142 "Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency." "Orphanet:363623 ICD10CM:G71.2 GARD:0012544 UMLS:C3714932 OMIM:615352 ICD10CM:G71.0 DOID:0110294" MONDO:0028743 "Orphanet:498454" MFOMD:0000119 "\nA disruption in the usually integrated functions of consciousness, memory, identity, or perception of the environment. \nThe disturbance may be sudden or gradual, transient or chronic.\n\n\nDSM-IV-TR (american Psychiatric Association)" MONDO:0044282 "OBSOLETE. The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013})." "OMIM:615264" MONDO:0006924 "Infections with bacteria of the family bartonellaceae." "MESH:D001476 UMLS:C0004773 EFO:1001125" MONDO:0030939 "OMIM:619203" GO:0006631 "The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis." -MONDO:0019453 "Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages." "Orphanet:86836 ICDO:9985/3 ICD10:D46.7 ICD10:D46.A MedDRA:10067959 UMLS:C0796466 SCTID:415285009 ICD9:238.72 NCIT:C8574" +MONDO:0019453 "Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages." "Orphanet:86836 ICD10CM:D46.A ICDO:9985/3 MedDRA:10067959 UMLS:C0796466 SCTID:415285009 ICD9:238.72 NCIT:C8574" GO:2000766 "Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translation." MONDO:0016508 "UMLS:CN226947 Orphanet:231641" CHEBI:138015 "Any compound that can disrupt the functions of the endocrine (hormone) system" @@ -18551,46 +18543,46 @@ MONDO:0009638 "UMLS:C1855034 OMIM:251945 MESH:C565376" GO:1904676 "Any process that stops, prevents or reduces the frequency, rate or extent of somatic stem cell division." MONDO:0017707 MONDO:0042974 "Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections." "OMOP:4147524 SCTID:30270006 GARD:0004215 UMLS:C0276324 ICD9:079.89" -MONDO:0006998 "A primary or metastatic malignant neoplasm that affects the tonsil." "UMLS:C0751560 NCIT:C7404 ICD10:C09.9 ICD10:C09 EFO:1001214 SCTID:363393007 MedDRA:10044002 MESH:D014067 DOID:8858 NCIT:C4825 ICD9:146.0" +MONDO:0006998 "A primary or metastatic malignant neoplasm that affects the tonsil." "UMLS:C0751560 NCIT:C7404 EFO:1001214 ICD10CM:C09 SCTID:363393007 MedDRA:10044002 MESH:D014067 DOID:8858 NCIT:C4825 ICD9:146.0" GO:1905952 "Any process that modulates the frequency, rate or extent of lipid localization." -MONDO:0010901 "HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed." "OMIM:600559 MESH:C535855 ICD10:Q87.8 SCTID:721015008 UMLS:C1833607 Orphanet:2119 GARD:0002620" -MONDO:0007584 "Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985." "OMIM:133690 Orphanet:1962 ICD10:Q87.5 UMLS:C1851428 MESH:C565034" +MONDO:0010901 "HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed." "ICD10CM:Q87.8 OMIM:600559 MESH:C535855 SCTID:721015008 UMLS:C1833607 Orphanet:2119 GARD:0002620" +MONDO:0007584 "Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985." "OMIM:133690 Orphanet:1962 ICD10CM:Q87.5 UMLS:C1851428 MESH:C565034" GO:0046395 "The chemical reactions and pathways resulting in the breakdown of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups." CHR:9606-chr12q1 MONDO:0002676 "A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones." "UMLS:C0278595 DOID:3516 NCIT:C7809" CL:0002547 "A fibroblast of the aortic adventitia." -MONDO:0016509 "UMLS:CN201521 ICD10:Q15.8 GARD:0010938 Orphanet:231736" +MONDO:0016509 "UMLS:CN201521 ICD10CM:Q15.8 GARD:0010938 Orphanet:231736" MONDO:0025152 "Diseases of chimpanzees, gorillas, and orangutans." "MESH:D018420 UMLS:C0242635" -MONDO:0013955 "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene." "Orphanet:319552 OMIM:614891 UMLS:C4013949 ICD10:D84.8 GARD:0010984" +MONDO:0013955 "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene." "ICD10CM:D84.8 Orphanet:319552 OMIM:614891 UMLS:C4013949 GARD:0010984" NCBITaxon:2085 "GC_ID:4 PMID:16350067" CHEBI:85638 "A monocarboxylic acid anion resulting from the deprotonation of the carboxy group of a haloacetic acid." UBERON:0005945 UBERON:0009644 -MONDO:0008756 "Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." "ICD10:Q87.8 DOID:0080627 OMIM:610422 UMLS:C1859878 Orphanet:2850 OMIMPS:203650 OMIM:613930 SCTID:716191002 GARD:0000612 OMIM:203650" -MONDO:0013946 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene." "DOID:0090075 UMLS:C3553977 OMIM:614880 ICD10:23.0 Orphanet:478" -MONDO:0005507 "A primary or metastatic malignant neoplasm that affects the gums." "ICD9:143 DOID:8602 SCTID:363382005 NCIT:C9317 ICD9:143.8 ICD10:C03 ICD10:C03.9 MedDRA:10067807 EFO:0005557 UMLS:C0153364 ICD9:143.9" +MONDO:0008756 "Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." "ICD10CM:Q87.8 DOID:0080627 OMIM:610422 UMLS:C1859878 Orphanet:2850 OMIMPS:203650 OMIM:613930 SCTID:716191002 GARD:0000612 OMIM:203650" +MONDO:0013946 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene." "DOID:0090075 UMLS:C3553977 OMIM:614880 Orphanet:478" +MONDO:0005507 "A primary or metastatic malignant neoplasm that affects the gums." "ICD9:143 DOID:8602 SCTID:363382005 NCIT:C9317 ICD9:143.8 MedDRA:10067807 EFO:0005557 UMLS:C0153364 ICD9:143.9" NCBITaxon:1173061 "GC_ID:1" CL:0000816 "An immature B cell is a B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation." -MONDO:0013147 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene." "OMIM:613122 MESH:C567733 UMLS:C2751084 DOID:0110424 ICD10:I42.0 Orphanet:154" +MONDO:0013147 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene." "OMIM:613122 MESH:C567733 UMLS:C2751084 DOID:0110424 ICD10CM:I42.0 Orphanet:154" NCBITaxon:91835 "GC_ID:1" HP:0000769 "An abnormality of the breast." "UMLS:C4025829" MONDO:0030937 "OMIM:619167" MONDO:0015309 -MONDO:0008973 "Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported." "Orphanet:79347 SCTID:715631005 OMIM:215105 MESH:C565853 ICD10:Q77.3" -MONDO:0004656 "A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body." "EFO:1002026 GARD:0004742 ICD10:B06 UMLS:C0035920 SCTID:36653000 ICD10:B06.9 NCIT:C85051 ICD9:056 DOID:8781 MESH:D012409" +MONDO:0008973 "Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported." "Orphanet:79347 SCTID:715631005 OMIM:215105 MESH:C565853 ICD10CM:Q77.3" +MONDO:0004656 "A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body." "EFO:1002026 GARD:0004742 UMLS:C0035920 SCTID:36653000 ICD10CM:B06 NCIT:C85051 ICD9:056 DOID:8781 MESH:D012409" GO:0001755 "The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo." MONDO:0100151 "An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction." "UMLS:C2930877 NCIT:C129932 MESH:C535335 OMIM:219800" MONDO:0021296 "A in situ carcinoma that involves the renal pelvis." "NCIT:C4597 ICD9:233.9 UMLS:C0347184 SCTID:92697000" UBERON:0005946 GO:0016445 "The somatic process that results in the generation of sequence diversity of immunoglobulins." -MONDO:0009642 "Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." "ICD10:Q87.0 Orphanet:2751 OMIM:252100 ICD9:759.89 SCTID:1779005 GARD:0003701" -MONDO:0021100 "A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males." "UMLS:CN236627 SCTID:126926005 ICD9:239.3 EFO:0003869 MESH:D001943 ONCOTREE:BREAST NCIT:C2910" +MONDO:0009642 "Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas." "Orphanet:2751 OMIM:252100 ICD10CM:Q87.0 ICD9:759.89 SCTID:1779005 GARD:0003701" +MONDO:0021100 "A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males." "UMLS:CN236627 SCTID:126926005 ICD9:239.3 EFO:0003869 MESH:D001943 ONCOTREE:BREAST ICD10CM:C50-C50 NCIT:C2910" MONDO:0002048 "A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus)." "DOID:1587 NCIT:C3991 GARD:0006768" GO:0004046 "Catalysis of the reaction: an N-acyl-L-amino acid + H2O = a carboxylate + an L-amino acid." IAO:8000010 "A subset of an ontology that is intended to be excluded for some purpose. For example, a blacklist of classes."@en HP:0011805 "A structural abnormality of a skeletal muscle." "UMLS:C4023181" NCBITaxon:43801 "GC_ID:1" -MONDO:0007400 "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." "UMLS:C0795998 SCTID:709105005 ICD9:759.89 ICD10:Q87.8 GARD:0006796 OMIM:123150 NCIT:C123814 Orphanet:1540 MESH:C537559 DOID:0111337" +MONDO:0007400 "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." "UMLS:C0795998 SCTID:709105005 ICD9:759.89 GARD:0006796 OMIM:123150 NCIT:C123814 Orphanet:1540 MESH:C537559 DOID:0111337 ICD10CM:Q87.8" CL:0000029 http://identifiers.org/hgnc/17870 UBERON:0008447 @@ -18599,114 +18591,114 @@ MONDO:0006169 "A hyperplasia characterized by excessive proliferation of endomet MONDO:0030938 "OMIM:619202" HP:0004430 "A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems." "UMLS:C0085110 SNOMEDCT_US:31323000 MSH:D016511" http://identifiers.org/hgnc/11515 -MONDO:0017203 "Chronic form of endophthalmitis." "MedDRA:10008864 UMLS:C0154774 ICD9:360.03 SCTID:13978000 Orphanet:279891 ICD10:H44.0 ICD10:H44.1 DOID:10697" +MONDO:0017203 "Chronic form of endophthalmitis." "MedDRA:10008864 UMLS:C0154774 ICD10CM:H44.0 ICD10CM:H44.1 ICD9:360.03 SCTID:13978000 Orphanet:279891 DOID:10697" http://identifiers.org/hgnc/9349 http://identifiers.org/hgnc/4440 UBERON:0015790 UBERON:0007247 MONDO:0000515 "A chondrosarcoma (disease) that involves the bone tissue." "DOID:0050897" CHEBI:48975 -MONDO:0019434 "Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." "ICD10:M08.2 SCTID:201796004 NCIT:C119031 GARD:0010966 EFO:1001999 OMIM:604302 MESH:C565798 Orphanet:85414" +MONDO:0019434 "Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio." "SCTID:201796004 NCIT:C119031 GARD:0010966 EFO:1001999 OMIM:604302 MESH:C565798 Orphanet:85414" GO:0006575 "The chemical reactions and pathways involving compounds derived from amino acids, organic acids containing one or more amino substituents." http://identifiers.org/hgnc/12712 MONDO:0030935 "OMIM:619166" MONDO:0017702 MONDO:0002661 "A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma." "SCTID:95678007 DOID:3480 UMLS:C0042161 GARD:0008192 NCIT:C26908 MESH:D014603" -MONDO:0011157 "Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported." "Orphanet:1532 SCTID:722451006 GARD:0000229 ICD10:Q07.8 MESH:C537285 OMIM:601853" +MONDO:0011157 "Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported." "Orphanet:1532 SCTID:722451006 GARD:0000229 ICD10CM:Q07.8 MESH:C537285 OMIM:601853" GO:0046928 "Any process that modulates the frequency, rate or extent of the regulated release of a neurotransmitter from a cell." http://identifiers.org/hgnc/19139 -MONDO:0019173 "Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated." "ICD9:071 MESH:D011818 ICD10:A82.0 ICD10:A82.9 UMLS:C0034494 Orphanet:770 ICD10:A82.1 GARD:0007516 MedDRA:10037742 ICD10:A82 NCIT:C28182 DOID:11260 SCTID:14168008" +MONDO:0019173 "Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated." "ICD9:071 MESH:D011818 ICD10CM:A82.0 ICD10CM:A82.1 UMLS:C0034494 Orphanet:770 ICD10CM:A82 GARD:0007516 MedDRA:10037742 NCIT:C28182 DOID:11260 ICD10CM:A82.9 SCTID:14168008" GO:0070201 "Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location." UBERON:0015791 HP:0031365 "Purpura that is flat (non-palpable, not raised)." CL:0000355 "A multifate stem cell found in skeletal muscle than can differentiate into many different cell types, including muscle. Distinct cell type from satellite cell." "FMA:86767" -MONDO:0002333 "An abscess that is located in the spleen." "HP:0025059 NCIT:C35347 DOID:2530 ICD10:D73.3 UMLS:C0272412 ICD9:289.59 SCTID:82053000" -MONDO:0019040 "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)" "NCIT:C34470 Orphanet:68335 ICD9:758.89 MESH:D025063 SCTID:409709004 DOID:0080014" +MONDO:0002333 "An abscess that is located in the spleen." "HP:0025059 NCIT:C35347 DOID:2530 ICD10CM:D73.3 UMLS:C0272412 ICD9:289.59 SCTID:82053000" +MONDO:0019040 "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)" "ICD10CM:Q00-Q99 NCIT:C34470 Orphanet:68335 ICD9:758.89 ICD10CM:Q90-Q99 MESH:D025063 SCTID:409709004 DOID:0080014" MONDO:0030936 "OMIM:619191" MONDO:0017969 "Orphanet:325351 UMLS:CN227232" FOODON:03400229 "Alcoholic or nonalcoholic beverage; excludes milk and milk-based beverages, fruit juices and fruit juice drinks, and vegetable juices. [FDA CFSAN 1995]"@en "http://www.langual.org/langual_thesaurus.asp?termid=A0229" UBERON:3010200 MONDO:0017703 "Orphanet:308998 UMLS:CN227177" MONDO:0019001 -MONDO:0019889 "Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported." "ICD10:Q92.3 SCTID:764512003 Orphanet:96109" +MONDO:0019889 "Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported." "SCTID:764512003 Orphanet:96109" UBERON:0006048 GO:0009056 "The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism." -MONDO:0007700 "Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine." "ICD10:E70.2 Orphanet:2118 DOID:0111362 OMIM:140350 MESH:C535845 GARD:0005668 SCTID:414380008 UMLS:C2931042" -MONDO:0002317 "An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)" "ICD9:386.2 SCTID:38403006 UMLS:C0155503 DOID:2479 ICD10:H81.49 ICD10:H81.4" -MONDO:0014314 "UMLS:C3810343 OMIM:615709 Orphanet:397927 ICD10:Q87.5" +MONDO:0007700 "Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine." "Orphanet:2118 ICD10CM:E70.2 DOID:0111362 OMIM:140350 MESH:C535845 GARD:0005668 SCTID:414380008 UMLS:C2931042" +MONDO:0002317 "An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)" "ICD9:386.2 SCTID:38403006 UMLS:C0155503 DOID:2479" +MONDO:0014314 "UMLS:C3810343 OMIM:615709 ICD10CM:Q87.5 Orphanet:397927" MONDO:0001136 "SCTID:7864001 UMLS:C0156315 DOID:10835 ICD9:608.84" MONDO:0003797 UBERON:0002348 -MONDO:0001332 "A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms." "ICD9:719.31 SCTID:50442003 GARD:0007304 ICD9:719.38 UMLS:C0085574 ICD9:719.36 ICD9:719.30 MESH:C538103 ICD10:M12.30 ICD9:719.3 ICD9:719.33 DOID:1166 ICD10:M12.3 ICD9:719.32" +MONDO:0001332 "A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms." "ICD9:719.31 SCTID:50442003 GARD:0007304 ICD9:719.38 UMLS:C0085574 ICD9:719.36 ICD9:719.30 MESH:C538103 ICD9:719.3 ICD9:719.33 ICD10CM:M12.3 DOID:1166 ICD9:719.32" http://identifiers.org/hgnc/11771 MONDO:0040503 "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene." "UMLS:C4540127 DOID:0080346 OMIM:617681" MONDO:0003531 "UMLS:C1367774 DOID:5591 SCTID:254709009 NCIT:C27254" -MONDO:0008479 "A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies)." "ICD10:Q77.8 GARD:0004991 UMLS:C0432221 SCTID:254078005 MESH:C535793 Orphanet:93315 OMIM:184255" +MONDO:0008479 "A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies)." "GARD:0004991 UMLS:C0432221 SCTID:254078005 MESH:C535793 Orphanet:93315 OMIM:184255 ICD10CM:Q77.8" MONDO:0021809 "Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate." "MESH:D054969" -MONDO:0013116 "MESH:C567769 UMLS:C2751320 OMIM:613076 GARD:0010522 Orphanet:330054 ICD10:G71.3" +MONDO:0013116 "MESH:C567769 UMLS:C2751320 ICD10CM:G71.3 OMIM:613076 GARD:0010522 Orphanet:330054" MONDO:0030933 "OMIM:619185" NCIT:C68749 GO:1902340 "Any process that stops, prevents or reduces the frequency, rate or extent of chromosome condensation." -MONDO:0019015 "Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac." "OMIM:164750 SCTID:18735004 HP:0001539 Orphanet:660 NCIT:C98997 ICD9:756.72 OMIM:310980 UMLS:C0795690 MedDRA:10030308 ICD10:Q79.2 DOID:0060327" +MONDO:0019015 "Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac." "OMIM:164750 SCTID:18735004 HP:0001539 Orphanet:660 NCIT:C98997 ICD10CM:Q79.2 ICD9:756.72 OMIM:310980 UMLS:C0795690 MedDRA:10030308 DOID:0060327" MONDO:0014315 MONDO:0003798 http://identifiers.org/hgnc/28887 MONDO:0010192 "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB." "DOID:0110953 Orphanet:897 OMIM:277580" -MONDO:0002409 "A disease involving the auditory system." "DOID:2742 ICD10:H93.90 ICD9:388.9 EFO:1001455 SCTID:362966006 ICD10:H93.9" +MONDO:0002409 "A disease involving the auditory system." "DOID:2742 ICD9:388.9 ICD10CM:H60-H95 EFO:1001455 SCTID:362966006 ICD10CM:H90-H94" UBERON:0002347 GO:0051234 "Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation." MONDO:0030934 "OMIM:619188" GO:0010951 "Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins." CHEBI:24734 -MONDO:0008706 "Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers." "UMLS:C1860167 MESH:C538170 ICD10:K00.2 Orphanet:2561 GARD:0000469 OMIM:200970 SCTID:722280000" -MONDO:0016035 "A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation." "UMLS:C0027577 NCIT:C84917 SCTID:43019009 DOID:4968 ICD10:E24.1 MESH:D009347 MESH:C531754 MedDRA:10028913 Orphanet:199244 GARD:0007170" +MONDO:0008706 "Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers." "UMLS:C1860167 MESH:C538170 ICD10CM:K00.2 Orphanet:2561 GARD:0000469 OMIM:200970 SCTID:722280000" +MONDO:0016035 "A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation." "UMLS:C0027577 NCIT:C84917 SCTID:43019009 DOID:4968 MESH:D009347 MESH:C531754 MedDRA:10028913 Orphanet:199244 GARD:0007170" NCBITaxon:11599 -MONDO:0015780 "Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." "MedDRA:10062759 ICD10:Q82.8 OMIMPS:127550 OMIM:613989 GARD:0010905 OMIM:615190 NCIT:C111802 UMLS:C0265965 OMIM:613988 OMIM:613987 OMIM:224230 MESH:D019871 OMIM:305000 OMIM:127550 SCTID:74911008 OMIM:613990 OMIM:616353 DOID:2729 Orphanet:1775" +MONDO:0015780 "Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." "MedDRA:10062759 OMIMPS:127550 OMIM:613989 GARD:0010905 OMIM:615190 ICD10CM:Q82.8 NCIT:C111802 UMLS:C0265965 OMIM:613988 OMIM:613987 OMIM:224230 MESH:D019871 OMIM:305000 OMIM:127550 SCTID:74911008 OMIM:613990 OMIM:616353 DOID:2729 Orphanet:1775" MONDO:0006598 "Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight." "SCTID:53597009 Wikipedia:Photodermatitis MESH:D017484 UMLS:C0162830 DOID:4407 NCIT:C4816 EFO:1000753" -MONDO:0017880 "Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms." "ICD10:A92.4 Orphanet:319251 DOID:1328 NCIT:C128419 MESH:D012295 MedDRA:10039143 UMLS:C0035613 SCTID:402917003" +MONDO:0017880 "Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms." "ICD10CM:A92.4 Orphanet:319251 DOID:1328 NCIT:C128419 MESH:D012295 MedDRA:10039143 UMLS:C0035613 SCTID:402917003" HP:0010765 "Abnormal thickening of the skin localized to the palm of the hand." "UMLS:C4023710" MONDO:0012893 "Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene." "UMLS:C0029410 SCTID:239872002 OMIM:612400" UBERON:0003548 -MONDO:0015634 "A osteopoikilosis (disease) that is not part of a larger syndrome." "OMIM:166700 Orphanet:166119 ICD10:Q78.8" +MONDO:0015634 "A osteopoikilosis (disease) that is not part of a larger syndrome." "OMIM:166700 ICD10CM:Q78.8 Orphanet:166119" GO:0016462 "Catalysis of the hydrolysis of a pyrophosphate bond between two phosphate groups, leaving one phosphate on each of the two fragments." -MONDO:0012580 "Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." "OMIM:300770 OMIM:265120 GARD:0004582 Orphanet:217566 OMIM:614370 Orphanet:264675 UMLS:C2931035 SCTID:707442002 ICD10:J84.0 MESH:C535832 OMIMPS:265120" -MONDO:0012016 "This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas." "OMIM:608354 ICD9:747.69 Orphanet:137667 OMIMPS:608354 GARD:0011904 MESH:C564254 SCTID:703533007 ICD10:Q27.3" +MONDO:0012580 "Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure." "OMIM:300770 OMIM:265120 ICD10CM:J84.0 GARD:0004582 Orphanet:217566 OMIM:614370 Orphanet:264675 UMLS:C2931035 SCTID:707442002 MESH:C535832 OMIMPS:265120" +MONDO:0012016 "This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas." "OMIM:608354 ICD10CM:Q27.3 ICD9:747.69 Orphanet:137667 OMIMPS:608354 GARD:0011904 MESH:C564254 SCTID:703533007" MONDO:0020807 "A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells." "NCIT:C39966" -MONDO:0011783 "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33)." "MESH:C535745 NCIT:C126873 ICD10:E77.8 UMLS:C2931001 Orphanet:79324 SCTID:711155008 OMIM:607143 ICD9:271.8 DOID:0080559 GARD:0009833" +MONDO:0011783 "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33)." "MESH:C535745 NCIT:C126873 UMLS:C2931001 Orphanet:79324 SCTID:711155008 OMIM:607143 ICD9:271.8 DOID:0080559 GARD:0009833 ICD10CM:E77.8" CHEBI:23976 "Any diol that is ethane or substituted ethane carrying two hydroxy groups." -MONDO:0016070 "Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." "OMIM:611010 OMIMPS:135300 ICD10:K06.1 OMIM:135300 SCTID:109620006 Orphanet:2024 OMIM:605544 DOID:0060466 OMIM:609955 UMLS:C0399440" +MONDO:0016070 "Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome." "OMIM:611010 OMIMPS:135300 ICD10CM:K06.1 OMIM:135300 SCTID:109620006 Orphanet:2024 OMIM:605544 DOID:0060466 OMIM:609955 UMLS:C0399440" HP:0002789 "Very rapid breathing." "MSH:D059246 UMLS:C0231835 SNOMEDCT_US:271823003" MONDO:0020537 "Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise" "Orphanet:99909" MONDO:0014827 "Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration." "EFO:0009019 DOID:0110821 UMLS:C4310800 OMIM:616907 Orphanet:488594" MONDO:0030931 "OMIM:619183" UBERON:0003549 GO:0140603 "OBSOLETE. Catalysis of the reaction: ATP + H2O = ADP + H+ Pi. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient." -MONDO:0019262 "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." "OMIM:600143 DOID:0050756 OMIM:610127 OMIM:256730 ICD10:E75.4 MedDRA:10052073 OMIM:204200 OMIM:204500 SCTID:61663001 OMIM:609055 Orphanet:79264" +MONDO:0019262 "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." "OMIM:600143 DOID:0050756 OMIM:610127 OMIM:256730 MedDRA:10052073 OMIM:204200 ICD10CM:E75.4 OMIM:204500 SCTID:61663001 OMIM:609055 Orphanet:79264" GO:0043413 "The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule." CHEBI:60531 "Flavin protonated to pH 7.3" MONDO:0005762 "Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown." "EFO:0007273 UMLS:C0242917 MESH:D018702" GO:1903523 "Any process that stops, prevents or reduces the frequency, rate or extent of blood circulation." MONDO:0021667 "A pain disorder characterize by pain in the distribution of a nerve or nerves" "MESH:D009437 ICD9:729.2 SCTID:16269008" GO:0023019 "Any process that modulates the frequency, rate or extent of gene expression as a consequence of a process in which a signal is released and/or conveyed from one location to another." -MONDO:0005884 "Infection with flukes of the genus Opisthorchis." "ICD9:121.0 GARD:0009746 DOID:13768 MESH:D009889 UMLS:C0029106 EFO:0007404 ICD10:B66.0 SCTID:1059007" +MONDO:0005884 "Infection with flukes of the genus Opisthorchis." "ICD9:121.0 GARD:0009746 ICD10CM:B66.0 DOID:13768 MESH:D009889 UMLS:C0029106 EFO:0007404 SCTID:1059007" UBERON:0003547 NCBITaxon:186817 "GC_ID:11" -MONDO:0006731 "An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications." "EFO:1000903 ICD10:G25.71 ICD9:333.99 MESH:D017109 MedDRA:10001540 NCIT:C78163 SCTID:230333002" +MONDO:0006731 "An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications." "EFO:1000903 ICD9:333.99 ICD10CM:G25.71 MESH:D017109 MedDRA:10001540 NCIT:C78163 SCTID:230333002" UBERON:0005944 -MONDO:0014317 "UMLS:C3810350 OMIM:615715 Orphanet:401764 ICD10:D61.0" +MONDO:0014317 "UMLS:C3810350 ICD10CM:D61.0 OMIM:615715 Orphanet:401764" http://identifiers.org/hgnc/26222 GO:0006821 "The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." UBERON:0002349 MONDO:0003530 "ONCOTREE:ADPA DOID:5590" MONDO:0006293 MONDO:0022656 "GARD:0001110" -MONDO:0008863 "A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes." "MESH:C537345 SCTID:238104009 Orphanet:2882 NCIT:C125694 UMLS:C0342907 ICD10:E78.0 GARD:0007653 OMIMPS:210250 MedDRA:10063985 OMIM:210250 Orphanet:101022 OMIMPS:215250 DOID:0090019" +MONDO:0008863 "A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes." "MESH:C537345 SCTID:238104009 ICD10CM:E78.0 Orphanet:2882 NCIT:C125694 UMLS:C0342907 GARD:0007653 OMIMPS:210250 MedDRA:10063985 OMIM:210250 Orphanet:101022 OMIMPS:215250 DOID:0090019" HP:0002373 "A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years." "MSH:D003294 UMLS:C0009952 SNOMEDCT_US:41497008" -MONDO:0020454 "Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy." "Orphanet:99129 ICD10:Q24.8" +MONDO:0020454 "Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy." "Orphanet:99129 ICD10CM:Q24.8" GO:0016043 "A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component." MONDO:0009317 "OBSOLETE. A trichothiodystrophy that is non-photosensitive" "Orphanet:1245" GO:0060764 "Any process that mediates the transfer of information from one cell to another and contributes to the progression of the mammary gland, from its initial state to the mature structure." -MONDO:0019079 "Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "OMIM:253400 ICD10:G12.0 Orphanet:70 ICD10:G12.1 UMLS:C4024957 OMIM:253550 UMLS:CN205570 EFO:0008929 GARD:0004531 OMIM:253300 OMIM:271150" +MONDO:0019079 "Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." "ICD10CM:G12.1 OMIM:253400 Orphanet:70 UMLS:C4024957 OMIM:253550 UMLS:CN205570 EFO:0008929 GARD:0004531 ICD10CM:G12.0 OMIM:253300 OMIM:271150" MONDO:0007491 "OMIM:128000 UMLS:C1851955 GARD:0010059 MESH:C538000" GO:0046943 "Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-)." CHEBI:35640 "Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin." @@ -18715,15 +18707,15 @@ UBERON:0007241 UBERON:0003542 CHR:9606-chr16q CL:0002077 "An epithelial cell derived from ectoderm." "FMA:69074" -MONDO:0009420 "This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia." "OMIM:241090 ICD10:E28.3 SCTID:719275009 Orphanet:2232 ICD10:E29.1 MESH:C567109" -MONDO:0013179 "A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein." "SCTID:723821002 UMLS:C2750784 DOID:0110796 OMIM:613206 Orphanet:320401 ICD10:G11.4 MESH:C567707" +MONDO:0009420 "This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia." "ICD10CM:E29.1 OMIM:241090 ICD10CM:E28.3 SCTID:719275009 Orphanet:2232 MESH:C567109" +MONDO:0013179 "A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein." "SCTID:723821002 UMLS:C2750784 DOID:0110796 OMIM:613206 Orphanet:320401 ICD10CM:G11.4 MESH:C567707" MONDO:0020980 "A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion." "SCTID:201161009 UMLS:C0018508 NCIT:C3074" MONDO:0025489 "A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding." "EFO:1001315 MESH:D016583" MONDO:0003793 PATO:0001548 "A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape." MONDO:0010462 "A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23." "UMLS:C3275471 OMIM:300861 DOID:0060819" UBERON:0001146 -MONDO:0009026 "Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." "SCTID:309776008 GARD:0001550 MESH:D056685 UMLS:C0587248 MedDRA:10067380 NCIT:C84652 DOID:0050469 Orphanet:3071 ICD10:Q87.8 ICD9:799.89 OMIM:218040" +MONDO:0009026 "Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors." "SCTID:309776008 ICD10CM:Q87.8 GARD:0001550 MESH:D056685 UMLS:C0587248 MedDRA:10067380 NCIT:C84652 DOID:0050469 Orphanet:3071 ICD9:799.89 OMIM:218040" UBERON:0003541 UBERON:0007240 CHR:9606-chr16p @@ -18735,10 +18727,10 @@ UBERON:0002343 http://identifiers.org/hgnc/28625 MONDO:0001131 MONDO:0000199 -MONDO:0019007 "Orphanet:65681 MedDRA:10046879 HP:0000148 ICD10:Q52.0" -MONDO:0019467 "An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement." "ICD10:C86.4 ICDO:9727/3 GARD:0010556 Orphanet:86870 NCIT:C7203 UMLS:C1301363 ICD9:202.80 UMLS:CN206246 ONCOTREE:BPDCN SCTID:445105005" +MONDO:0019007 "Orphanet:65681 ICD10CM:Q52.0 MedDRA:10046879 HP:0000148" +MONDO:0019467 "An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement." "ICDO:9727/3 GARD:0010556 Orphanet:86870 NCIT:C7203 UMLS:C1301363 ICD9:202.80 UMLS:CN206246 ONCOTREE:BPDCN SCTID:445105005" FOODON:00001184 "This food product type includes food products which are derived from a large, diverse group of photosynthetic organisms."@en "SUBSET_SIREN:F10419" -MONDO:0007109 "Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." "SCTID:26409005 GARD:0002002 DOID:0111399 UMLS:C0271934 ICD10:D64.4 Orphanet:98870 OMIM:105600 ICD9:285.8" +MONDO:0007109 "Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." "SCTID:26409005 GARD:0002002 DOID:0111399 UMLS:C0271934 Orphanet:98870 OMIM:105600 ICD10CM:D64.4 ICD9:285.8" MONDO:0030930 "OMIM:619157" MONDO:0045070 "A melanoma that arises from any part of the digestive system." "NCIT:C7091 GARD:0010409 UMLS:C1333798" CHR:9606-chr12p1 @@ -18747,29 +18739,29 @@ UBERON:0001145 MONDO:0002596 MONDO:0700031 "Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism." GO:0061622 "The chemical reactions and pathways through a glucose-1-phosphate intermediate that result in the catabolism of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP." -MONDO:0001336 "An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome." "NCIT:C34707 ICD10:E78.5 DOID:1168" +MONDO:0001336 "An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome." "NCIT:C34707 DOID:1168" NCBITaxon:35789 "PMID:8102245 GC_ID:11" UBERON:0003544 http://identifiers.org/hgnc/11773 MONDO:0044342 "Any degenerative disorder affecting one or more vertebral discs of the thoracic spine." "NCIT:C27155 UMLS:C0263872 SCTID:68675004" -MONDO:0013421 "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene." "UMLS:C3151080 ICD10:D84.1 OMIM:613789 Orphanet:169150 GARD:0010625 HGNC:1353 DOID:0060302" +MONDO:0013421 "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene." "UMLS:C3151080 OMIM:613789 Orphanet:169150 GARD:0010625 HGNC:1353 DOID:0060302" http://identifiers.org/hgnc/14270 GO:0009145 "The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar." UBERON:0002346 MONDO:0024287 "A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels." "NCIT:C112117" -MONDO:0001396 "ICD9:368.63 ICD10:H53.61 DOID:11874 UMLS:C0155019 SCTID:50455002" +MONDO:0001396 "ICD9:368.63 DOID:11874 UMLS:C0155019 SCTID:50455002 ICD10CM:H53.61" MONDO:0004142 "A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma." "UMLS:C1333122 DOID:7207 NCIT:C7267" http://identifiers.org/hgnc/27424 -MONDO:0014528 "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)." "ICD10:K59.8 SCTID:720507006 GARD:0012281 Orphanet:435988 DOID:0060339 OMIM:616201 UMLS:C4015474" -MONDO:0018748 "Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin)." "MedDRA:10024515 Orphanet:46488 ICD10:L10.8 MESH:D062027 GARD:0010960 SCTID:95330001 UMLS:C0406650" +MONDO:0014528 "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)." "SCTID:720507006 GARD:0012281 Orphanet:435988 DOID:0060339 OMIM:616201 ICD10CM:K59.8 UMLS:C4015474" +MONDO:0018748 "Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin)." "MedDRA:10024515 Orphanet:46488 MESH:D062027 ICD10CM:L10.8 GARD:0010960 SCTID:95330001 UMLS:C0406650" UBERON:0001148 GO:0045665 "Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation." MONDO:0018909 MONDO:0002593 -MONDO:0015571 "Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment." "MESH:C537647 Orphanet:1627 SCTID:721158009 ICD10:Q93.5" +MONDO:0015571 "Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment." "MESH:C537647 Orphanet:1627 ICD10CM:Q93.5 SCTID:721158009" http://identifiers.org/hgnc/24928 MONDO:0000198 -MONDO:0007114 "Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age." "ICD10:Q78.8 MESH:C536361 GARD:0000671 OMIM:105835 SCTID:720984008 Orphanet:63442 MedDRA:10066017" +MONDO:0007114 "Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age." "ICD10CM:Q78.8 MESH:C536361 GARD:0000671 OMIM:105835 SCTID:720984008 Orphanet:63442 MedDRA:10066017" CL:0008001 "Any hematopoietic cell that is a precursor of some other hematopoietic cell type." UBERON:0003543 MONDO:0007087 "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene." "UMLS:C3549447 OMIM:104290 Orphanet:2131" @@ -18778,7 +18770,7 @@ MONDO:0003818 "A mature teratoma that arises from the ovary and occurs in childr MONDO:0016729 "A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)" "UMLS:C0474844 UMLS:CN201977 Orphanet:251934 NCIT:C4747" GO:0060485 "The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells." http://identifiers.org/hgnc/11772 -MONDO:0001395 "DOID:11871 UMLS:C0155076 ICD9:370.22 ICD10:H16.11 SCTID:2853006" +MONDO:0001395 "DOID:11871 UMLS:C0155076 ICD9:370.22 SCTID:2853006" MONDO:0006915 "Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots." "DOID:4308 EFO:1001116 SCTID:128078004 UMLS:C0032587 MESH:D011129" MONDO:0023369 "A disease that involves the facial skeleton." MONDO:0003554 "An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." "NCIT:C5491 DOID:5629 UMLS:C1333082" @@ -18786,21 +18778,21 @@ UBERON:0004742 MONDO:0001433 "A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma." "SCTID:25658005 DOID:121 UMLS:C0042251 MESH:D014623 NCIT:C26910" MONDO:0000197 MONDO:0006887 "Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament." "MESH:D010249 DOID:1260 UMLS:C0030455 EFO:1001084 SCTID:280483007" -MONDO:0004766 "An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators." "NCIT:C122577 ICD10:J46 DOID:9362 EFO:0008590 SCTID:708090002 UMLS:C0038218 ICD9:493.91 MESH:D013224" +MONDO:0004766 "An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators." "NCIT:C122577 DOID:9362 EFO:0008590 SCTID:708090002 UMLS:C0038218 ICD9:493.91 MESH:D013224" MONDO:0005465 "Abnormal mental state resulting from an abuse of methamphetamine" "EFO:0005242" UBERON:0002340 -MONDO:0020256 "ICD10:H49.1 Orphanet:98686" +MONDO:0020256 "Orphanet:98686 ICD10CM:H49.1" http://identifiers.org/hgnc/16406 MONDO:0005934 -MONDO:0010615 "Orphanet:632 Orphanet:231692 SCTID:234533006 Orphanet:631 OMIM:300123 OMIM:307200 ICD10:E23.0 GARD:0003921 DOID:0060875 MESH:C537149" +MONDO:0010615 "Orphanet:632 Orphanet:231692 SCTID:234533006 Orphanet:631 OMIM:300123 OMIM:307200 ICD10CM:E23.0 GARD:0003921 DOID:0060875 MESH:C537149" http://identifiers.org/hgnc/19141 HP:0003077 "An elevated lipid concentration in the blood." "SNOMEDCT_US:55822004 MSH:D006949 UMLS:C0020473" -MONDO:0010585 "An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin." "SCTID:239007005 ICD10:Q82.4 Orphanet:238468 GARD:0010427 OMIM:305100 Orphanet:181" +MONDO:0010585 "An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin." "SCTID:239007005 Orphanet:238468 GARD:0010427 OMIM:305100 Orphanet:181 ICD10CM:Q82.4" MONDO:0022651 MONDO:0001387 "A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma." "UMLS:C0238352 NCIT:C7730 DOID:11838" -MONDO:0016044 "Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate." "ICD9:749.20 OMIM:616788 MedDRA:10009260 SCTID:66948001 ICD9:749.25 ICD10:Q37.9 ICD10:Q37.2 OMIM:600757 ICD10:Q37.4 OMIM:613705 OMIM:119530 ICD10:Q37.8 OMIM:602966 ICD10:Q37.1 ICD10:Q37.3 OMIM:610361 ICD10:Q37.5 OMIM:600625 OMIM:608874 OMIM:608371 ICD10:Q37.0 OMIM:129400 OMIM:225060 OMIM:608864 Orphanet:199306 OMIM:612858" +MONDO:0016044 "Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate." "OMIM:600625 OMIM:608371 OMIM:610361 ICD10CM:Q37.0 ICD10CM:Q37.5 Orphanet:199306 OMIM:616788 OMIM:612858 OMIM:129400 ICD10CM:Q37.3 OMIM:602966 ICD10CM:Q37.8 OMIM:119530 OMIM:613705 MedDRA:10009260 ICD10CM:Q37.2 OMIM:600757 SCTID:66948001 OMIM:608864 ICD10CM:Q37.9 OMIM:608874 ICD9:749.25 ICD10CM:Q37.4 ICD10CM:Q35-Q37 ICD10CM:Q37.1 OMIM:225060 ICD9:749.20" http://identifiers.org/hgnc/18801 -MONDO:0014572 "OMIM:616291 ICD10:G11.1 UMLS:C4225383 Orphanet:448251 DOID:0080065" +MONDO:0014572 "OMIM:616291 UMLS:C4225383 ICD10CM:G11.1 Orphanet:448251 DOID:0080065" MONDO:0001678 "A tuberculosis that involves the intestine." "UMLS:C0275911 DOID:13282 ICD9:014.80 SCTID:60136008 ICD9:014.8" MONDO:0011230 "A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." "EFO:0005895 GARD:0009699 SCTID:90448008 OMIM:602475 MESH:C537143 UMLS:C1865343 NCIT:C84975 DOID:0060887" MONDO:0016945 "Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "Orphanet:262758 GARD:0005361" @@ -18808,22 +18800,22 @@ UBERON:0001142 http://identifiers.org/hgnc/30800 http://identifiers.org/hgnc/17869 MONDO:0011813 "UMLS:C1846452 Orphanet:93334 MESH:C564590 OMIM:607324" -MONDO:0009563 "An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death." "DOID:9269 Orphanet:268162 OMIM:246900 Orphanet:268145 NCIT:C34806 MedDRA:10026817 SCTID:27718001 Orphanet:268173 MESH:D008375 UMLS:C0024776 OMIM:248600 Orphanet:268184 ICD10:E71.0 OMIM:615135 GARD:0003228 Orphanet:511 OMIMPS:248600" +MONDO:0009563 "An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death." "DOID:9269 Orphanet:268162 OMIM:246900 Orphanet:268145 NCIT:C34806 MedDRA:10026817 SCTID:27718001 Orphanet:268173 MESH:D008375 ICD10CM:E71.0 UMLS:C0024776 OMIM:248600 Orphanet:268184 OMIM:615135 GARD:0003228 Orphanet:511 OMIMPS:248600" MONDO:0013063 "Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene." "MESH:C567841 Orphanet:228140 OMIM:612956 UMLS:C2751829" -MONDO:0004869 "A varicose disease that involves the pelvic region of trunk." "ICD10:I86.2 DOID:9742 UMLS:C0155795 ICD9:456.5 SCTID:17406005" +MONDO:0004869 "A varicose disease that involves the pelvic region of trunk." "ICD10CM:I86.2 DOID:9742 UMLS:C0155795 ICD9:456.5 SCTID:17406005" CHEBI:79020 "A monocarboxylic acid in which the carbon of the carboxy group is directly attached to a C=C or C#C bond." -MONDO:0007100 "Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur." "MESH:C567782 ICD10:E85.1+ UMLS:C0206245 EFO:0004129 NCIT:C84554 SCTID:42295001 DOID:0050638 OMIM:105210 GARD:0000656 Orphanet:85451 Orphanet:85447 UMLS:C2751492 ICD9:277.39 DOID:0050761 ICD10:G63.3*" +MONDO:0007100 "Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur." "MESH:C567782 UMLS:C0206245 EFO:0004129 ICD10EXP:G63.3* NCIT:C84554 SCTID:42295001 DOID:0050638 OMIM:105210 GARD:0000656 ICD10EXP:E85.1+ Orphanet:85451 Orphanet:85447 UMLS:C2751492 ICD9:277.39 DOID:0050761" IAO:0000005 "A directive information entity that describes an intended process endpoint. When part of a plan specification the concretization is realized in a planned process in which the bearer tries to effect the world so that the process endpoint is achieved."@en MONDO:0013374 "UMLS:C3150966 OMIM:613700" -MONDO:0006663 "A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process." "UMLS:C0004045 ICD10:P84 NCIT:C116313 Orphanet:137577 GARD:0005857 DOID:11088 SCTID:28314004 ICD9:768.9 MESH:D001238 EFO:1000824" +MONDO:0006663 "A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process." "GARD:0005857 SCTID:28314004 DOID:11088 UMLS:C0004045 Orphanet:137577 ICD9:768.9 MESH:D001238 EFO:1000824 NCIT:C116313" MONDO:0017970 "UMLS:CN227233 Orphanet:325357" http://identifiers.org/hgnc/18802 MONDO:0007497 "OMIM:128290" UBERON:4100000 MONDO:0022650 "GARD:0001103" -MONDO:0007743 "A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type." "OMIM:143465 NCIT:C97160" -MONDO:0016272 "A transitional cell carcinoma that involves the body of uterus." "ICD10:C54.1 Orphanet:213746" -MONDO:0002108 "A malignant neoplasm involving the thyroid gland" "ICD9:193 UMLS:CN221577 DOID:1781 SCTID:363478007 SCTID:127018007 KEGG:05216 ICD10:C73 NCIT:C7510" +MONDO:0007743 "A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type." "OMIM:143465 NCIT:C97160 ICD10CM:F90-98" +MONDO:0016272 "A transitional cell carcinoma that involves the body of uterus." "ICD10CM:C54.1 Orphanet:213746" +MONDO:0002108 "A malignant neoplasm involving the thyroid gland" "ICD9:193 UMLS:CN221577 ICD10CM:C73-C75 DOID:1781 SCTID:363478007 SCTID:127018007 KEGG:05216 NCIT:C7510" UBERON:0001141 MONDO:0006299 MONDO:0004735 @@ -18834,9 +18826,9 @@ MONDO:0009890 "OMIM:263210 UMLS:C1849762 Orphanet:79328 MESH:C564881" MONDO:0044229 "OMIM:131450" GO:0033993 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus." MONDO:0020258 "UMLS:CN207073 Orphanet:98688" -MONDO:0013828 "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene." "DOID:0060697 ICD10:G25.8 UMLS:C3553291 Orphanet:3197 OMIM:614619" +MONDO:0013828 "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene." "DOID:0060697 UMLS:C3553291 Orphanet:3197 OMIM:614619" CL:0002681 -MONDO:0020591 "A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma." "UMLS:C0031142 MESH:D010532 SCTID:66579008 NCIT:C26848" +MONDO:0020591 "A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma." "ICD10CM:K65-K68 UMLS:C0031142 MESH:D010532 SCTID:66579008 NCIT:C26848" MONDO:0044227 "OMIM:126100" MONDO:0014163 "Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene." "OMIM:615396 UMLS:C3715165 Orphanet:54260 Orphanet:154" CHEBI:23924 "A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction." @@ -18848,7 +18840,7 @@ CHEBI:16990 "A member of the class of biladienes that is a linear tetrapyrrole ENVO:01000981 "A process whereby a volume of liquid moves due to a disequilibrium of physical forces." CHR:9606-chr20q13.2-q13.3 MONDO:0001408 "Neuropathy that is caused by inadequate blood supply." "NCIT:C27025 ICD9:356.9 SCTID:129611009 UMLS:C0238309 DOID:1195" -MONDO:0014574 "Orphanet:444138 UMLS:C4225381 ICD10:Q82.8 OMIM:616295" +MONDO:0014574 "Orphanet:444138 UMLS:C4225381 ICD10CM:Q82.8 OMIM:616295" UBERON:0003540 UBERON:0002342 MONDO:0011815 "OMIM:607329 UMLS:C1846430" @@ -18856,47 +18848,47 @@ MONDO:0001740 "A rare squamous cell carcinoma that arises from the cornea." "NCI http://identifiers.org/hgnc/30802 MONDO:0015675 "Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines." "SCTID:26089000 Orphanet:1685 ICD9:121.8 ICD9:121.9 GARD:0001891" MONDO:0002339 -MONDO:0010364 "X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait." "OMIM:300578 SCTID:719808002 Orphanet:85332 UMLS:C0795873 ICD10:H35.5 GARD:0008360" +MONDO:0010364 "X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait." "OMIM:300578 SCTID:719808002 Orphanet:85332 UMLS:C0795873 ICD10CM:H35.5 GARD:0008360" SO:0001784 "A structural sequence alteration or rearrangement encompassing one or more genome fragments, with 4 or more breakpoints." CHR:9606-chr4q21 -MONDO:0005207 "An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." "ICDO:9100/3 ONCOTREE:BCCA ICD10:C58 UMLS:C0008497 SCTID:188188009 HP:0100768 EFO:0002893 GARD:0006059 NCIT:C2948 MESH:D002822 DOID:3594" +MONDO:0005207 "An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." "ICDO:9100/3 ONCOTREE:BCCA UMLS:C0008497 SCTID:188188009 HP:0100768 EFO:0002893 GARD:0006059 NCIT:C2948 MESH:D002822 DOID:3594" MONDO:0002216 "A sarcoma arising from the brain." "NCIT:C5154 DOID:2132 UMLS:C1332607" -MONDO:0013110 "SCTID:711403001 OMIM:613068 MESH:C567791 Orphanet:217382 ICD10:G31.8 ICD9:266.2 DOID:0050719 GARD:0010594" +MONDO:0013110 "SCTID:711403001 ICD10CM:G31.8 OMIM:613068 MESH:C567791 Orphanet:217382 ICD9:266.2 DOID:0050719 GARD:0010594" CHEBI:36916 "A monoatomic or polyatomic species having one or more elementary charges of the proton." MONDO:0012178 "UMLS:C1836915 MESH:C563810 OMIM:609037" UBERON:0001144 MONDO:0013376 "Orphanet:98938 OMIM:613703 UMLS:C3150968" MONDO:0007499 "OMIM:128500" -MONDO:0016575 "A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy)." "MESH:D007619 OMIM:244400 ICD10:Q34.8 OMIM:614874 OMIMPS:244400 OMIM:616037 OMIM:608647 OMIM:608646 OMIM:612444 OMIM:612274 OMIM:615294 OMIM:615451 OMIM:611884 Orphanet:244 OMIM:610852 DOID:0050144 UMLS:C0008780 NCIT:C84797 OMIM:615505 OMIM:608644 OMIM:242670 OMIM:617091 GARD:0004484 OMIM:615500 OMIM:615481 OMIM:614935 OMIM:612649 SCTID:42402006 OMIM:613807 NCIT:C84638 MedDRA:10069713 OMIM:612518 OMIM:242680 OMIM:615067 OMIM:614679 GARD:0006815 OMIM:615482 SCTID:86204009 OMIM:616481 OMIM:612650 OMIM:614017 OMIM:613808 OMIM:215518 OMIM:606763 DOID:9562 OMIM:615872 OMIM:615444 OMIM:215520 MESH:D002925 OMIM:617092 OMIM:616726 OMIM:615504 OMIM:613193" +MONDO:0016575 "A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy)." "MESH:D007619 OMIM:244400 OMIM:614874 OMIMPS:244400 OMIM:616037 OMIM:608647 OMIM:608646 OMIM:612444 OMIM:612274 OMIM:615294 OMIM:615451 OMIM:611884 Orphanet:244 OMIM:610852 DOID:0050144 UMLS:C0008780 NCIT:C84797 OMIM:615505 ICD10CM:Q34.8 OMIM:608644 OMIM:242670 OMIM:617091 GARD:0004484 OMIM:615500 OMIM:615481 OMIM:614935 OMIM:612649 SCTID:42402006 OMIM:613807 NCIT:C84638 MedDRA:10069713 OMIM:612518 OMIM:242680 OMIM:615067 OMIM:614679 GARD:0006815 OMIM:615482 SCTID:86204009 OMIM:616481 OMIM:612650 OMIM:614017 OMIM:613808 OMIM:215518 OMIM:606763 DOID:9562 OMIM:615872 OMIM:615444 OMIM:215520 MESH:D002925 OMIM:617092 OMIM:616726 OMIM:615504 OMIM:613193" UBERON:0002341 MONDO:0020259 "Orphanet:98689" MONDO:0044226 "HGNC:12678" MONDO:0010616 -MONDO:0020110 "An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities." "ICD9:748.5 MedDRA:10037322 SCTID:66489009 ICD10:Q33.3 Orphanet:984 GARD:0009119 UMLS:C0265780 NCIT:C99028" +MONDO:0020110 "An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities." "ICD9:748.5 MedDRA:10037322 SCTID:66489009 Orphanet:984 GARD:0009119 UMLS:C0265780 NCIT:C99028" MONDO:0005935 -MONDO:0016098 "Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation." "Orphanet:206569 ICD10:G72.4 SCTID:715863001 GARD:0013307" +MONDO:0016098 "Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation." "Orphanet:206569 SCTID:715863001 GARD:0013307 ICD10CM:G72.4" http://identifiers.org/hgnc/8140 NCBITaxon:11593 MONDO:0100077 "A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis." -MONDO:0019588 "Autosomal recessive form of nonsyndromic deafness." "GARD:0001710 OMIM:610265 OMIM:610419 OMIM:613865 OMIM:607039 OMIM:605818 OMIM:609941 OMIM:609647 Orphanet:90636 Orphanet:90635 OMIM:614617 OMIM:616958 OMIM:609706 OMIM:613307 OMIM:608219 OMIM:607101 OMIM:609533 OMIM:610212 OMIM:614934 OMIM:611022 OMIM:613685 OMIM:616042 OMIM:613392 OMIM:601869 OMIMPS:220290 UMLS:C1846647 OMIM:609952 OMIM:610220 UMLS:CN206424 OMIM:612645 OMIM:613079 OMIM:608265 OMIM:600792 OMIM:604060 OMIM:600974 OMIM:608264 OMIM:614861 OMIM:607821 OMIM:614945 OMIM:612433 OMIM:610143 OMIM:609439 OMIM:603629 OMIM:608653 OMIM:602092 OMIM:611451 OMIM:608565 ICD10:H90.3 OMIM:605428 OMIM:614035 OMIM:603010 OMIM:609006 OMIM:615974 OMIM:601071 OMIM:220290 OMIM:615429 OMIM:613285 OMIM:614414 OMIM:610248 OMIM:600060 OMIM:615837 OMIM:613718 OMIM:614899 OMIM:610154 OMIM:600971 OMIM:610153 OMIM:609823 OMIM:613916 MESH:C564609 OMIM:601386 OMIM:609646 OMIM:609946 OMIM:603678 OMIM:616705 OMIM:616515 OMIM:615540 OMIM:607239 OMIM:600316 OMIM:607084 OMIM:607197 OMIM:601072 OMIM:612789 OMIM:603720 OMIM:613391 OMIM:613453 OMIM:614944 DOID:0050565 OMIM:600791 OMIM:603098" +MONDO:0019588 "Autosomal recessive form of nonsyndromic deafness." "GARD:0001710 OMIM:610265 OMIM:610419 OMIM:613865 OMIM:607039 OMIM:605818 OMIM:609941 OMIM:609647 Orphanet:90636 Orphanet:90635 OMIM:614617 OMIM:616958 OMIM:609706 OMIM:613307 OMIM:608219 OMIM:607101 OMIM:609533 OMIM:610212 OMIM:614934 OMIM:611022 OMIM:613685 OMIM:616042 OMIM:613392 OMIM:601869 OMIMPS:220290 UMLS:C1846647 OMIM:609952 OMIM:610220 UMLS:CN206424 OMIM:612645 OMIM:613079 OMIM:600792 OMIM:604060 OMIM:608265 OMIM:600974 OMIM:608264 OMIM:614861 OMIM:607821 OMIM:614945 OMIM:612433 OMIM:610143 OMIM:609439 OMIM:603629 OMIM:608653 OMIM:602092 OMIM:608565 OMIM:611451 OMIM:605428 OMIM:614035 OMIM:603010 OMIM:609006 OMIM:615974 OMIM:601071 OMIM:220290 OMIM:615429 OMIM:613285 OMIM:614414 OMIM:610248 OMIM:600060 OMIM:615837 OMIM:613718 OMIM:614899 OMIM:610154 OMIM:600971 OMIM:610153 OMIM:609823 OMIM:613916 MESH:C564609 OMIM:601386 ICD10CM:H90.3 OMIM:609646 OMIM:609946 OMIM:603678 OMIM:616705 OMIM:616515 OMIM:615540 OMIM:607239 OMIM:600316 OMIM:607084 OMIM:607197 OMIM:601072 OMIM:612789 OMIM:603720 OMIM:613391 OMIM:613453 OMIM:614944 DOID:0050565 OMIM:600791 OMIM:603098" GO:0003842 "Catalysis of the reaction: 1-pyrroline-5-carboxylate + NAD+ + H2O = L-glutamate + NADH + H(+)." MONDO:0008690 "UMLS:C1860231 OMIM:194400 MESH:C565989 Orphanet:910" http://identifiers.org/hgnc/6842 MONDO:0100359 "A disease caused by infection with herpes simplex type 1." NCBITaxon:42862 "PMID:11321078 PMID:12508865 GC_ID:11 PMID:8904435" -MONDO:0011454 "Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." "UMLS:C1858420 ICD10:Q87.2 MESH:C565782 Orphanet:228190 OMIM:604381" +MONDO:0011454 "Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." "UMLS:C1858420 MESH:C565782 Orphanet:228190 ICD10CM:Q87.2 OMIM:604381" MONDO:0003253 "A usually benign granular cell tumor that arises from the vulva." "NCIT:C40328 UMLS:C1520083 DOID:5043" MONDO:0006074 "A carcinoma composed of malignant glandular cells and malignant squamous cells." "SCTID:403902008 UMLS:C0206623 MESH:D018196 DOID:4830 NCIT:C3727 EFO:1000073 ICDO:8560/3" MONDO:0024988 "A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts." "DOID:0080368" -MONDO:0015572 "ICD10:Q04.8 Orphanet:163209" -MONDO:0020561 "Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS." "OMIM:613488 ONCOTREE:MRLS MESH:D018208 Orphanet:99967 ICD10:C49.9" +MONDO:0015572 "ICD10CM:Q04.8 Orphanet:163209" +MONDO:0020561 "Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS." "OMIM:613488 ONCOTREE:MRLS MESH:D018208 Orphanet:99967 ICD10CM:C49.9" NCIT:C25193 "The principal activity that a person does to earn money." MONDO:0012179 "Orphanet:2073 OMIM:609039 UMLS:C1836907" UBERON:0001143 GO:0050729 "Any process that activates or increases the frequency, rate or extent of the inflammatory response." -MONDO:0007059 "Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected." "UMLS:C3495490 OMIM:201310 UMLS:C0796290 ICD10:Q87.2 UMLS:CN206860 SCTID:720458005 Orphanet:971 OMIM:102520 DOID:0060347 MESH:C563159" +MONDO:0007059 "Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected." "UMLS:C3495490 OMIM:201310 UMLS:C0796290 UMLS:CN206860 SCTID:720458005 Orphanet:971 OMIM:102520 DOID:0060347 ICD10CM:Q87.2 MESH:C563159" MONDO:0044225 "HGNC:1992" -MONDO:0014576 "ICD10:E88.8 UMLS:C4225379 OMIM:616299 Orphanet:401862" +MONDO:0014576 "ICD10CM:E88.8 UMLS:C4225379 OMIM:616299 Orphanet:401862" NCBITaxon:63235 MONDO:0020252 "Orphanet:98682" http://identifiers.org/hgnc/22788 @@ -18907,42 +18899,42 @@ CHEBI:38297 MONDO:0022655 "UMLS:C2931289 GARD:0001109" NCBITaxon:83553 MONDO:0002163 "A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion." "UMLS:C1336744 NCIT:C6452 DOID:1975" -MONDO:0007737 "Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present." "OMIM:236400 OMIM:143050 ICD10:Q74.0 HP:0003041 GARD:0002748 DOID:0060467 ICD9:755.59 SCTID:205329008 Orphanet:3265" -MONDO:0002817 "A malignant neoplasm involving the adrenal gland" "DOID:3953 ICD9:239.7 MESH:D000310 ICD10:C74.9 NCIT:C2859 GARD:0005751 SCTID:127021009 ICD10:C74 NCIT:C9338 ICD9:194.0" -MONDO:0001126 "An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall." "ICD9:531 DOID:10808 UMLS:C0038358 SCTID:397825006 HP:0002592 NCIT:C3388 MESH:D013276 ICD10:K25" +MONDO:0007737 "Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present." "OMIM:236400 OMIM:143050 HP:0003041 GARD:0002748 DOID:0060467 ICD9:755.59 ICD10CM:Q74.0 SCTID:205329008 Orphanet:3265" +MONDO:0002817 "A malignant neoplasm involving the adrenal gland" "DOID:3953 ICD9:239.7 MESH:D000310 NCIT:C2859 GARD:0005751 SCTID:127021009 NCIT:C9338 ICD9:194.0" +MONDO:0001126 "An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall." "ICD9:531 DOID:10808 UMLS:C0038358 ICD10CM:K25 SCTID:397825006 HP:0002592 NCIT:C3388 MESH:D013276" GO:0044439 "OBSOLETE. Any constituent part of a peroxisome, a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2)." -MONDO:0010924 "D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." "OMIMPS:600721 UMLS:CN233040 OMIM:600721 Orphanet:79315 UMLS:C1833429 SCTID:237960000 OMIM:613657 DOID:0050575 GARD:0005661 ICD10:E72.8" +MONDO:0010924 "D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." "OMIMPS:600721 ICD10CM:E72.8 UMLS:CN233040 OMIM:600721 Orphanet:79315 UMLS:C1833429 SCTID:237960000 OMIM:613657 DOID:0050575 GARD:0005661" MONDO:0008697 "OMIM:200300" MONDO:0004998 GO:0070914 "A DNA repair process that is initiated by an endonuclease that introduces a single-strand incision immediately 5' of a UV-induced damage site. UV-damage excision repair acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs)." -MONDO:0013441 "An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24." "DOID:0110088 OMIM:613819 UMLS:C3151185 ICD10:Q77.2 Orphanet:474" +MONDO:0013441 "An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24." "DOID:0110088 OMIM:613819 UMLS:C3151185 Orphanet:474" NCBITaxon:41665 "GC_ID:1" MONDO:0020863 "Infection of the larynx by Corynebacterium diphtheriae." "NCIT:C34546 ICD9:032.3 SCTID:50215002 UMLS:C0012557" MONDO:0003536 MONDO:0003688 "A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma." "ICDO:9052/1 UMLS:C1337012 NCIT:C7635 DOID:5884" -MONDO:0009949 "Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." "UMLS:C2931141 OMIM:266150 UMLS:C0034341 SCTID:87694001 GARD:0007512 NCIT:C85040 DOID:3651 Orphanet:3008 MESH:D015324 ICD10:E74.4 UMLS:CN203409 EFO:1001142 ICD9:277.89" +MONDO:0009949 "Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." "ICD10CM:E74.4 UMLS:CN203409 DOID:3651 MESH:D015324 Orphanet:3008 NCIT:C85040 GARD:0007512 UMLS:C0034341 OMIM:266150 UMLS:C2931141 ICD9:277.89 SCTID:87694001 EFO:1001142" MONDO:0012314 "Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene." "MESH:C566504 OMIM:609622 UMLS:C1865018" MONDO:0100330 "An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase." GO:0097712 "The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces." -MONDO:0009588 "Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." "ICD9:756.59 UMLS:C0432230 OMIM:249700 MESH:C537267 ICD10:Q87.1 GARD:0003553 SCTID:38494008 Orphanet:2632 NCIT:C126876" +MONDO:0009588 "Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." "ICD9:756.59 UMLS:C0432230 OMIM:249700 MESH:C537267 GARD:0003553 ICD10CM:Q87.1 SCTID:38494008 Orphanet:2632 NCIT:C126876" http://identifiers.org/hgnc/6840 http://identifiers.org/hgnc/18806 MONDO:0016073 "A microphthalmia that is part of a larger syndrome." "DOID:0080636 UMLS:CN226833 OMIMPS:309800 Orphanet:202948" MONDO:0020253 "UMLS:CN207072 Orphanet:98683" MONDO:0044224 "OMIM:117800" -MONDO:0011578 "Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC)." "SCTID:717734005 UMLS:C1854104 OMIM:605642 ICD10:C73 MESH:C565310 Orphanet:97290 ICD10:C64" +MONDO:0011578 "Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC)." "SCTID:717734005 UMLS:C1854104 OMIM:605642 MESH:C565310 Orphanet:97290 ICD10CM:C73 ICD10CM:C64" HP:0410042 "Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage." "Fyler:4447" http://identifiers.org/hgnc/28883 MONDO:0008359 "Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983." "MESH:C536267 UMLS:C2931146 GARD:0000224 OMIM:179280 Orphanet:3015 SCTID:766765009" MONDO:0022654 "MESH:C535582" GO:0050432 "The regulated release of catecholamines by a cell. The catecholamines are a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine." -MONDO:0001171 "Acute form of salpingo-oophoritis." "ICD9:614.0 ICD10:N70.03 UMLS:C0156327 DOID:10971 ICD10:N70.0 SCTID:266581008" +MONDO:0001171 "Acute form of salpingo-oophoritis." "ICD9:614.0 UMLS:C0156327 DOID:10971 SCTID:266581008" MONDO:0003637 "A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative." "DOID:5763 NCIT:C38152 UMLS:C1333065" MONDO:0008430 "MESH:C566687 UMLS:C1866939 OMIM:182255" MONDO:0012339 "Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene." "OMIM:609753" GO:0070255 "Any process that modulates the frequency, rate or extent of the regulated release of mucus from a cell or a tissue." GO:0140238 "A vesicle-mediated transport process in which the presynapse take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle." -MONDO:0001598 "A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma." "ICD10:K11.8 SCTID:45517002 ICD9:527.8 DOID:12899 UMLS:C0266995 NCIT:C3949" +MONDO:0001598 "A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma." "SCTID:45517002 ICD9:527.8 DOID:12899 UMLS:C0266995 NCIT:C3949" MONDO:0014312 "Orphanet:137888 UMLS:C3810332 OMIM:615706" MONDO:0005323 "Bacterial diseases that are potentially transmitted or propagated by sexual conduct." "EFO:0003955 UMLS:C0036917 MESH:D015231" MONDO:0020254 "Orphanet:98684" @@ -18951,12 +18943,12 @@ MONDO:0044223 "OMIM:111620" MONDO:0009893 "OMIM:263450 UMLS:C3550661 Orphanet:93334" MONDO:0005030 "A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age." "ICD9:764.99 ICD9:764.94 EFO:0000495 SCTID:22033007 ICD9:764.97 NCIT:C80083 MESH:D005317 ICD9:764.95 ICD9:764.92 ICD9:764.90 NCIT:C114875 ICD9:764.9 ICD9:764.98 ICD9:764.93 ICD9:764.91 ICD9:764.96" MONDO:0022653 "GARD:0001107" -MONDO:0020453 "Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea." "ICD10:Q26.3 Orphanet:99124 SCTID:68237008 NCIT:C99004" +MONDO:0020453 "Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea." "Orphanet:99124 SCTID:68237008 NCIT:C99004" MONDO:0003501 "A squamous cell carcinoma that arises from the skin of the external ear." "UMLS:C1333494 DOID:5538 NCIT:C6083" CHEBI:38295 UBERON:0001140 MONDO:0006296 -MONDO:0014162 "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life." "Orphanet:352563 UMLS:C3809339 OMIM:615395 DOID:0111469 GARD:0012892 ICD10:I42.2" +MONDO:0014162 "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life." "ICD10CM:I42.2 Orphanet:352563 UMLS:C3809339 OMIM:615395 DOID:0111469 GARD:0012892" GO:0016999 "The chemical reactions and pathways involving an antibiotic, a substance produced by or derived from certain fungi, bacteria, and other organisms, that can destroy or inhibit the growth of other microorganisms." MONDO:0004734 MONDO:0001660 "Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness." "DOID:13207 ICD9:362.02 SCTID:59276001 NCIT:C84457 UMLS:C0154830" @@ -18969,7 +18961,7 @@ NCBITaxon:11598 MONDO:0007494 MONDO:0037253 "A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign." "NCIT:C66989 SCTID:254864005" CHR:9606-chr4q25 -MONDO:0014313 "ICD10:D84.8 OMIM:615707 Orphanet:437552 UMLS:C3810342" +MONDO:0014313 "ICD10CM:D84.8 OMIM:615707 Orphanet:437552 UMLS:C3810342" MONDO:0020255 MONDO:0044222 "OMIM:111400" MONDO:0005931 @@ -18980,10 +18972,10 @@ MONDO:0002336 "ICD9:357.8 DOID:2537 ICD9:357 ICD9:357.7 SCTID:267601009 ICD9:35 GO:0006351 "The cellular synthesis of RNA on a template of DNA." MONDO:0004286 "A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus." "NCIT:C38342 DOID:7575 UMLS:C1518869 ONCOTREE:IPMN" HP:0012823 "This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects." "UMLS:C4021064" -MONDO:0011818 "Orphanet:268994 OMIM:607341 GARD:0010190 Orphanet:269008 Orphanet:269001 ICD10:Q04.8 Orphanet:65683 MESH:C537067" +MONDO:0011818 "Orphanet:268994 OMIM:607341 GARD:0010190 Orphanet:269008 Orphanet:269001 ICD10CM:Q04.8 Orphanet:65683 MESH:C537067" NCIT:C68748 MONDO:0003982 "Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner." "UMLS:C0281267 DOID:6741 NCIT:C8287" -MONDO:0005230 "Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area." "DOID:3488 ICD10:L03.90 ICD9:682.9 ICD9:682.8 NCIT:C26715 Wikipedia:Cellulitis SCTID:128045006 HP:0100658 MESH:D002481 EFO:0003035" +MONDO:0005230 "Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area." "DOID:3488 ICD9:682.9 ICD9:682.8 NCIT:C26715 Wikipedia:Cellulitis SCTID:128045006 HP:0100658 MESH:D002481 EFO:0003035" HP:0032158 "An unusual infection classified by the affected body part." CL:0000136 "A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of triglycerides." "FMA:63880 CALOHA:TS-0012 BTO:0000443" NCBITaxon:2093 "PMID:15176735 PMID:11931184 PMID:8863441 PMID:11321109 PMID:16403858 PMID:13403276 PMID:16350067 PMID:8995799 PMID:25288662 GC_ID:4 PMID:11411711 PMID:10826816" @@ -19001,21 +18993,21 @@ MONDO:0010678 "OMIM:310095 UMLS:C1839669 MESH:C564095" MONDO:0024310 "A angiodysplasia that involves the stomach." "SCTID:424802006 UMLS:C0744273" http://identifiers.org/hgnc/19125 CHEBI:76712 "A lyase inhibitor which inhibits the action of a C-O lyase (EC 4.2.*.*)." -MONDO:0012574 "17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated." "UMLS:C2931246 DOID:0060853 OMIM:610883 SCTID:734016004 ICD10:Q92.3 GARD:0010145 Orphanet:1713 NCIT:C124846" +MONDO:0012574 "17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated." "UMLS:C2931246 DOID:0060853 OMIM:610883 SCTID:734016004 GARD:0010145 Orphanet:1713 NCIT:C124846" MONDO:0033649 "OMIM:619058" MONDO:0008229 "UMLS:C1868426 MESH:C536001 OMIM:170980 GARD:0008546" -MONDO:0007979 "Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." "UMLS:C0410530 OMIM:156250 GARD:0003560 ICD10:Q78.4 MESH:C562938 ICD9:756.59 SCTID:205481009 DOID:0111512 Orphanet:2499" +MONDO:0007979 "Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." "UMLS:C0410530 ICD10CM:Q78.4 OMIM:156250 GARD:0003560 MESH:C562938 ICD9:756.59 SCTID:205481009 DOID:0111512 Orphanet:2499" http://identifiers.org/hgnc/9118 MONDO:0002390 PATO:0001908 "A nucleate quality inhering in a bearer by virtue of the bearer's having more than one nucleus." -MONDO:0014371 "DOID:0080415 ICD10:G40.4 UMLS:C4014492 Orphanet:411986 OMIM:615859" +MONDO:0014371 "ICD10CM:G40.4 DOID:0080415 UMLS:C4014492 Orphanet:411986 OMIM:615859" http://identifiers.org/hgnc/1718 NCBITaxon:2092 "PMID:13403276 PMID:16350067 GC_ID:4" MONDO:0017074 "Orphanet:268766" NCBITaxon:1980613 "GC_ID:1" -MONDO:0018339 "Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid." "UMLS:C4518776 SCTID:733422008 Orphanet:397606 ICD10:G60.8" +MONDO:0018339 "Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid." "UMLS:C4518776 SCTID:733422008 ICD10CM:G60.8 Orphanet:397606" UBERON:0036375 -MONDO:0019037 "Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." "ICD9:333.0 MedDRA:10036813 GARD:0007471 OMIM:260540 UMLS:CN205522 OMIM:610898 UMLS:C0038868 MESH:D013494 OMIM:601104 Orphanet:683 DOID:678 NCIT:C85028 OMIM:609454 ICD10:G23.1 SCTID:192976002" +MONDO:0019037 "Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." "ICD9:333.0 MedDRA:10036813 GARD:0007471 OMIM:260540 UMLS:CN205522 OMIM:610898 UMLS:C0038868 MESH:D013494 OMIM:601104 Orphanet:683 DOID:678 NCIT:C85028 OMIM:609454 SCTID:192976002" ENVO:01000179 "A desert biome is a terrestrial biome which loses more liquid water by evapotranspiration than is supplied by precipitation and includes communities adapted to these conditions." NCBITaxon:314293 "GC_ID:1" http://identifiers.org/hgnc/2916 @@ -19023,14 +19015,14 @@ MONDO:0010411 "MESH:C567472 OMIM:300711 UMLS:C2678037" MONDO:0006933 "A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter." "MESH:D016726 DOID:3677 SCTID:1648002 EFO:1001135 ICD9:518.89 UMLS:C0085269" MONDO:0010677 "OMIM:310000 UMLS:C1839670 MESH:C564096" GO:0046137 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body." -MONDO:0016486 "Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions." "ICD10:D56.1 SCTID:26682008 OMIM:613985 Orphanet:231214 NCIT:C129699 ICD9:282.49" +MONDO:0016486 "Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions." "SCTID:26682008 OMIM:613985 Orphanet:231214 NCIT:C129699 ICD10CM:D56.1 ICD9:282.49" CHEBI:48356 "A polar solvent that is capable of acting as a hydron (proton) donor." MONDO:0010415 "MESH:C567468 UMLS:C2678015 OMIM:300718 Orphanet:97239" http://identifiers.org/hgnc/4214 http://identifiers.org/hgnc/9115 MONDO:0017071 "Orphanet:268752" MONDO:0016973 -MONDO:0008227 "GARD:0002015 Orphanet:1795 ICD10:Q74.8 UMLS:C0220659 UMLS:CN074256 OMIM:170700" +MONDO:0008227 "ICD10CM:Q74.8 GARD:0002015 Orphanet:1795 UMLS:C0220659 UMLS:CN074256 OMIM:170700" http://identifiers.org/hgnc/21576 MONDO:0002721 "Ischemic or hemorrhagic necrosis of the pituitary gland." "UMLS:C0271558 SCTID:59572000 NCIT:C27066 DOID:3646" MONDO:0012925 "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene." "MESH:C567280 Orphanet:124 OMIM:612528 UMLS:C2675859" @@ -19041,20 +19033,20 @@ GO:0005342 "Enables the transfer of organic acids from one side of a membrane to UBERON:0012125 MONDO:0006900 "Inflammation of the connective and adipose tissues surrounding the kidney." "DOID:2982 MESH:D010501 SCTID:111404004 UMLS:C0031065 MedDRA:10072058 EFO:1001099" http://identifiers.org/hgnc/20376 -MONDO:0009443 "Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." "Orphanet:457 ICD10:Q80.4 GARD:0006568 OMIM:242500 NCIT:C98934 UMLS:C0239849 SCTID:205548006 MedDRA:10019163 DOID:0060713" +MONDO:0009443 "Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." "Orphanet:457 GARD:0006568 OMIM:242500 NCIT:C98934 UMLS:C0239849 SCTID:205548006 MedDRA:10019163 DOID:0060713" UBERON:0009853 -MONDO:0010639 "Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely." "ICD10:J38.0 OMIM:308850 Orphanet:2375 SCTID:724178000 UMLS:CN201604" -MONDO:0007514 "Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene." "Orphanet:1885 OMIM:129600 url:https://www.ncbi.nlm.nih.gov/pubmed/15054843 DOID:0111150 UMLS:C3541518" +MONDO:0010639 "Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely." "OMIM:308850 ICD10CM:J38.0 Orphanet:2375 SCTID:724178000 UMLS:CN201604" +MONDO:0007514 "Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene." "Orphanet:1885 OMIM:129600 DOID:0111150 UMLS:C3541518" CL:0000206 "A cell specialized to detect chemical substances and relay that information centrally in the nervous system. Chemoreceptors may monitor external stimuli, as in taste and olfaction, or internal stimuli, such as the concentrations of oxygen and carbon dioxide in the blood." -MONDO:0007810 "Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern." "MESH:D016112 UMLS:C0079584 DOID:1702 Orphanet:462 ICD10:Q80.0 GARD:0001897 NCIT:C84778 SCTID:254157005 OMIM:146700" +MONDO:0007810 "Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern." "MESH:D016112 UMLS:C0079584 DOID:1702 Orphanet:462 GARD:0001897 ICD10CM:Q80.0 NCIT:C84778 SCTID:254157005 OMIM:146700" UBERON:0035174 MONDO:0007453 "Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes." "DOID:0111100 OMIM:125851 SCTID:237604008 Orphanet:552 GARD:0010657 NCIT:C129741" MONDO:0016972 "Orphanet:263004" MONDO:0017072 "Orphanet:268758" MONDO:0011611 "OMIM:605856 UMLS:C1970039 MESH:C566989" http://identifiers.org/hgnc/21575 -MONDO:0017053 "Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." "OMIM:248600 Orphanet:268173 ICD10:E71.0 SCTID:405288003" -MONDO:0013306 "Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life." "SCTID:763204003 OMIM:613559 ICD10:G31.8 Orphanet:254930 UMLS:C3150801 DOID:0111487" +MONDO:0017053 "Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." "OMIM:248600 ICD10CM:E71.0 Orphanet:268173 SCTID:405288003" +MONDO:0013306 "Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life." "ICD10CM:G31.8 SCTID:763204003 OMIM:613559 Orphanet:254930 UMLS:C3150801 DOID:0111487" MONDO:0005282 "An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease." "MESH:D008178 NCIT:C26819 GARD:0006225 UMLS:C0024137 DOID:0050169 SCTID:7119001 EFO:0003834" http://identifiers.org/hgnc/10768 NCBITaxon:314295 "GC_ID:1" @@ -19067,29 +19059,29 @@ FOODON:03420155 "The main propagative part of a plant, especially the kernel of CL:0002572 "A mesenchymal stem cell of the vertebrae." MONDO:0021222 "A neoplasm (disease) that involves the lacrimal gland." "NCIT:C4360" MONDO:0033644 "OMIM:619082" -MONDO:0019336 "Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors." "MESH:D005736 OMIM:175100 ICD10:D12.6 GARD:0006482 Orphanet:79665 NCIT:C6728 UMLS:C0017097 SCTID:60876000 ICD9:759.89 MedDRA:10017727" +MONDO:0019336 "Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors." "MESH:D005736 OMIM:175100 GARD:0006482 Orphanet:79665 NCIT:C6728 UMLS:C0017097 SCTID:60876000 ICD9:759.89 ICD10CM:D12.6 MedDRA:10017727" GO:0002582 "Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II." -MONDO:0009780 "Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition." "SCTID:719408007 Orphanet:2736 OMIM:258320 GARD:0004079 UMLS:C1850317 MESH:C537747 ICD10:Q87.8" +MONDO:0009780 "Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition." "ICD10CM:Q87.8 SCTID:719408007 Orphanet:2736 OMIM:258320 GARD:0004079 UMLS:C1850317 MESH:C537747" MONDO:0200001 "OMIM:118840" MONDO:0016623 "OBSOLETE. Any of the forms of deficiency anemia that have a rare incidence." "Orphanet:248293" http://identifiers.org/hgnc/20373 -MONDO:0008007 "Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement." "ICD10:K03.5 MESH:D020254 ICD9:521.6 EFO:1001215 OMIM:157950 UMLS:C0155930 SCTID:14901003 Orphanet:1077 DOID:12661 MedDRA:10044019 GARD:0000701" +MONDO:0008007 "Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement." "MESH:D020254 ICD9:521.6 EFO:1001215 OMIM:157950 UMLS:C0155930 SCTID:14901003 Orphanet:1077 DOID:12661 MedDRA:10044019 GARD:0000701" MONDO:0002174 "A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)" "MESH:D019773 DOID:2006 ICD9:362.89 SCTID:367649002 ICD9:362.56" MONDO:0001674 "Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation." "ICD9:562.11 MESH:D004239 DOID:13254 ICD9:562.12 SCTID:111359004 UMLS:C0012814" -MONDO:0011615 "OMIM:605913 Orphanet:391320 MESH:C565275 UMLS:C1853831 ICD10:D68.2" -MONDO:0011671 "Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities." "DOID:0090104 ICD10:G10 SCTID:721228006 UMLS:C1847987 OMIM:606438 Orphanet:98934 MESH:C564708" +MONDO:0011615 "OMIM:605913 Orphanet:391320 MESH:C565275 UMLS:C1853831 ICD10CM:D68.2" +MONDO:0011671 "Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities." "DOID:0090104 SCTID:721228006 ICD10CM:G10 UMLS:C1847987 OMIM:606438 Orphanet:98934 MESH:C564708" HP:0011842 "An abnormality of the form, structure, or size of the skeletal system." "UMLS:C4023165" http://identifiers.org/hgnc/11708 MONDO:0012811 "Orphanet:231160 OMIM:612162 MESH:C567405 UMLS:C2677336" GO:1903060 "Any process that stops, prevents or reduces the frequency, rate or extent of protein lipidation." -MONDO:0013176 "UMLS:C2750787 OMIM:613195 Orphanet:363992 ICD10:Q93.5 MESH:C567710" +MONDO:0013176 "UMLS:C2750787 OMIM:613195 Orphanet:363992 ICD10CM:Q93.5 MESH:C567710" http://identifiers.org/hgnc/3018 -MONDO:0015391 "A teratoma that involves the nasopharynx." "UMLS:C4531264 ICD10:D10.6 Orphanet:141107" +MONDO:0015391 "A teratoma that involves the nasopharynx." "UMLS:C4531264 ICD10CM:D10.6 Orphanet:141107" CL:1000448 "An epithelial cell that is part of the sweat gland." "FMA:70952" MONDO:0033643 "OMIM:619079" MONDO:0010416 "UMLS:C2678011 MESH:C567467 OMIM:300719" UBERON:0011185 -MONDO:0016709 "A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity." "Orphanet:251855 UMLS:C4330531 ICD10:C71.6 NCIT:C129436 ONCOTREE:AMBL" +MONDO:0016709 "A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity." "Orphanet:251855 UMLS:C4330531 ICD10CM:C71.6 NCIT:C129436 ONCOTREE:AMBL" MONDO:0017070 "Orphanet:268748" MONDO:0013209 "A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use." "MedDRA:10029530 SCTID:197315008 Orphanet:33271 ICD9:571.8 MESH:D065626 EFO:1001248 OMIM:613282 EFO:0003095 OMIM:613387 NCIT:C84444 DOID:0080208" MONDO:0016970 "Orphanet:262995" @@ -19105,7 +19097,7 @@ MONDO:0033646 "OMIM:619055" CL:2000004 "Any cell that is part of a pituitary gland." MONDO:0003026 "An angiosarcoma that is located in the gallbladder." "UMLS:C1333742 NCIT:C5840 DOID:4513" MONDO:0012814 "OMIM:612198 UMLS:C2677303 MESH:C567402" -MONDO:0004664 "A parasitic infection characterized by the infestation with worms, mainly in the intestine." "GARD:0006578 ICD10:B65.B83 EFO:1001342 ICD9:128.8 NCIT:C84751 ICD9:128.9 ICD10:B65-B83 MESH:D006373 ICD9:120-129.99 SCTID:27601005 UMLS:C0018889 DOID:883 ICD10:B83.9" +MONDO:0004664 "A parasitic infection characterized by the infestation with worms, mainly in the intestine." "GARD:0006578 EFO:1001342 ICD9:128.8 NCIT:C84751 ICD9:128.9 MESH:D006373 ICD10CM:B65-B83 ICD9:120-129.99 SCTID:27601005 UMLS:C0018889 DOID:883" MONDO:0010419 MONDO:0024336 "An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma." "UMLS:C1336975 DOID:2098 NCIT:C6380 Orphanet:494454" UBERON:0013585 @@ -19116,14 +19108,14 @@ UBERON:0009856 http://identifiers.org/hgnc/20371 MONDO:0014376 "UMLS:C4014528 DOID:0070057 OMIM:615866 Orphanet:1465" http://identifiers.org/hgnc/4218 -MONDO:0020563 "Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS." "EFO:0003085 DOID:0080531 NCIT:C3704 ICDO:8858/3 UMLS:C0205824 ONCOTREE:DDLS ICD10:C49.9 SCTID:404072004 Orphanet:99970 ICD9:171.9" +MONDO:0020563 "Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS." "EFO:0003085 DOID:0080531 NCIT:C3704 ICD10CM:C49.9 ICDO:8858/3 UMLS:C0205824 ONCOTREE:DDLS SCTID:404072004 Orphanet:99970 ICD9:171.9" MONDO:0011617 "OMIM:605935 UMLS:C1853829 MESH:C565273" MONDO:0009429 "MESH:C565478 UMLS:C1855809 OMIM:241519" http://identifiers.org/hgnc/14202 MONDO:0030049 "OMIM:618901" UBERON:0036376 ECTO:9000026 "An exposure to alcohol." -MONDO:0019446 "Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis." "Orphanet:86795 ICD10:L98.5 GARD:0007321 UMLS:C0263390" +MONDO:0019446 "Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis." "Orphanet:86795 GARD:0007321 UMLS:C0263390 ICD10CM:L98.5" http://identifiers.org/hgnc/14468 CL:2000082 "Any melanocyte of skin that is part of a skin of prepuce of penis." MONDO:0013817 "Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene." "UMLS:C3281288 OMIM:614595 Orphanet:275555" @@ -19133,57 +19125,57 @@ NCBITaxon:2732092 "GC_ID:1" MONDO:0008093 "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." "OMIM:162900 Orphanet:79414 GARD:0013025 NCIT:C4088 MESH:C580062 DOID:0111162" MONDO:0033645 "OMIM:619054" HP:0002105 "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." "SNOMEDCT_US:66857006 UMLS:C0019079 SNOMEDCT_US:6686005 MSH:D006469" -MONDO:0018805 "Cystic dilatation of the hepatic duct or bile duct." "ICD10:Q44.4 MESH:D015529 NCIT:C2943 SCTID:397868007 DOID:899 SCTID:398197009 GARD:0009229 OMIM:603003 Orphanet:480501 ICD9:576.8 ICD9:751.69" +MONDO:0018805 "Cystic dilatation of the hepatic duct or bile duct." "MESH:D015529 NCIT:C2943 SCTID:397868007 DOID:899 ICD10CM:Q44.4 SCTID:398197009 GARD:0009229 OMIM:603003 Orphanet:480501 ICD9:576.8 ICD9:751.69" CL:1000415 "An epithelial cell that is part of the gallbladder." "FMA:67780" GO:0006505 "The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain." GO:0034761 "Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore." MONDO:0003965 "A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all." "NCIT:C34446 DOID:6680 MESH:D002194" -MONDO:0013471 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene." "OMIM:613865 DOID:0110513 ICD10:H90.3 UMLS:C3151230" +MONDO:0013471 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene." "OMIM:613865 DOID:0110513 UMLS:C3151230" MONDO:0023171 "Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved." "SCTID:720956003 Orphanet:2048 GARD:0002351 UMLS:C2931412 MESH:C537069" http://identifiers.org/hgnc/20372 MONDO:0006680 "An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative." "MedDRA:10062788 GARD:0008452 SCTID:254806009 MESH:D018329 ICDO:8780/0 EFO:1000841 NCIT:C3803" -MONDO:0013753 "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene." "UMLS:C4304674 ICD10:G60.0 OMIM:614436 UMLS:C1837805 UMLS:C3280797 DOID:0110169 GARD:0009195 GARD:0012435 Orphanet:300319 SCTID:719511005 OMIM:608591 Orphanet:99941" +MONDO:0013753 "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene." "UMLS:C4304674 OMIM:614436 UMLS:C1837805 UMLS:C3280797 DOID:0110169 GARD:0009195 GARD:0012435 Orphanet:300319 SCTID:719511005 OMIM:608591 Orphanet:99941 ICD10CM:G60.0" MONDO:0006418 "An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." "NCIT:C39610 EFO:1000535 UMLS:C1519371" http://identifiers.org/hgnc/14201 UBERON:0014783 CHR:9606-chr9p13 -MONDO:0018013 "ICD10:N00.5 OMIM:614809 OMIM:609814 Orphanet:329918" +MONDO:0018013 "OMIM:614809 OMIM:609814 Orphanet:329918 ICD10CM:N00.5" MONDO:0030702 "An autoimmune form of atherosclerosis." "DOID:0040096" MONDO:0033640 "OMIM:619073" -MONDO:0018279 "OMIM:606612 OMIM:613152 ICD10:G71.2 Orphanet:370980" +MONDO:0018279 "ICD10CM:G71.2 OMIM:606612 OMIM:613152 Orphanet:370980" GO:1903025 "Any process that modulates the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding." -MONDO:0006649 "Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful." "MESH:D018917 EFO:1000809 MedDRA:10068250 ICD10:H47.01 ICD9:377.41 GARD:0009790 DOID:12010 SCTID:404659001 UMLS:C0155305" +MONDO:0006649 "Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful." "MESH:D018917 EFO:1000809 MedDRA:10068250 ICD9:377.41 GARD:0009790 DOID:12010 SCTID:404659001 UMLS:C0155305" UBERON:0005056 GO:0032990 "The process in which the anatomical structures of a cell part are generated and organized." MONDO:0027750 "Orphanet:250808" -MONDO:0017914 "ICD10:G11.4 Orphanet:320342" -MONDO:0019476 "Orphanet:86885 MedDRA:10034623 ICD10:C84.4" -MONDO:0019907 "Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia." "GARD:0006069 MESH:C538303 Orphanet:96176 ICD10:Q93.2 SCTID:726723004" +MONDO:0017914 "ICD10CM:G11.4 Orphanet:320342" +MONDO:0019476 "Orphanet:86885 MedDRA:10034623 ICD10CM:C84.4" +MONDO:0019907 "Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia." "GARD:0006069 MESH:C538303 Orphanet:96176 SCTID:726723004 ICD10CM:Q93.2" UBERON:0014780 MONDO:0025354 "OMIM:301059" -MONDO:0011137 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene." "MESH:C566637 OMIM:601718 DOID:0110354 Orphanet:791 ICD10:H35.5 GARD:0010398 UMLS:C1866422" +MONDO:0011137 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene." "MESH:C566637 OMIM:601718 DOID:0110354 Orphanet:791 GARD:0010398 UMLS:C1866422" MONDO:0014246 "Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene." "UMLS:C3809893 DOID:0111730 Orphanet:306577 OMIM:615551" MONDO:0010670 "OMIM:309640 UMLS:C1839727 Orphanet:163982 MESH:C564099" -MONDO:0012344 "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1." "DOID:0110044 MESH:C565228 UMLS:C1853360 ICD10:G30 OMIM:609790" +MONDO:0012344 "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1." "DOID:0110044 MESH:C565228 ICD10CM:G30 UMLS:C1853360 OMIM:609790" MONDO:0030047 "OMIM:618891" NCBITaxon:5693 "GC_ID:1" -MONDO:0000836 "DOID:0080010" +MONDO:0000836 "DOID:0080010 ICD10CM:M40-M43 ICD10CM:M50-M54 ICD10CM:M45-M49" MONDO:0016716 MONDO:0044710 "A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes." "Orphanet:502369 NCIT:C42690 UMLS:C0280297" MONDO:0044248 "OBSOLETE. The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995})." "OMIM:171200" http://identifiers.org/hgnc/11960 HP:0000315 "UMLS:C4025863" UBERON:0005057 -MONDO:0016362 "Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features." "OMIM:615083 OMIM:612591 MESH:C538265 GARD:0008532 ICD10:D12.6 SCTID:715866009 NCIT:C6729 Orphanet:220460 UMLS:C2674616 OMIM:608456 OMIM:616415 OMIM:175100" +MONDO:0016362 "Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features." "OMIM:615083 OMIM:612591 MESH:C538265 GARD:0008532 SCTID:715866009 NCIT:C6729 Orphanet:220460 UMLS:C2674616 OMIM:608456 OMIM:616415 ICD10CM:D12.6 OMIM:175100" UBERON:0011189 -MONDO:0015519 "ICD10:E75.2 OMIM:603896 Orphanet:157713" +MONDO:0015519 "OMIM:603896 ICD10CM:E75.2 Orphanet:157713" http://identifiers.org/hgnc/2074 -MONDO:0004751 "Diseases of the bony orbit and contents except the eyeball." "UMLS:C0029182 ICD9:376 DOID:930 ICD9:376.9 ICD10:H05.9 ICD10:H05 MESH:D009916" +MONDO:0004751 "Diseases of the bony orbit and contents except the eyeball." "UMLS:C0029182 ICD9:376 DOID:930 ICD9:376.9 MESH:D009916" HP:0100699 "SNOMEDCT_US:48677004 MSH:D002921 UMLS:C0008767" GO:2000831 "Any process that modulates the frequency, rate or extent of steroid hormone secretion." -MONDO:0010680 "X-linked form of Emery-Dreifuss muscular dystrophy." "Orphanet:98863 DOID:0070246 Orphanet:261 GARD:0002102 UMLS:CN069573 OMIM:300696 OMIM:310300 UMLS:C0751337 ICD10:G71.0 NCIT:C168730" +MONDO:0010680 "X-linked form of Emery-Dreifuss muscular dystrophy." "ICD10CM:G71.0 Orphanet:98863 DOID:0070246 Orphanet:261 GARD:0002102 UMLS:CN069573 OMIM:310300 UMLS:C0751337 OMIM:300696 NCIT:C168730" MONDO:0025353 "OMIM:301058" -MONDO:0017915 "ICD10:G11.4 Orphanet:320346" +MONDO:0017915 "Orphanet:320346 ICD10CM:G11.4" MONDO:0030048 "OMIM:618892" MONDO:0000835 http://identifiers.org/hgnc/1975 @@ -19191,9 +19183,9 @@ GO:0002087 "A process carried out by the nervous system that is required for the MONDO:8000019 MONDO:0002481 "An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma." "NCIT:C5237 UMLS:C1335172 DOID:3002" MONDO:0004791 -MONDO:0018277 "OMIM:613151 Orphanet:370959 OMIM:613156 OMIM:613155 ICD10:G71.2 OMIM:606612 OMIM:615351" +MONDO:0018277 "OMIM:613151 ICD10CM:G71.2 Orphanet:370959 OMIM:613156 OMIM:613155 OMIM:606612 OMIM:615351" MONDO:0030915 "An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13." "DOID:0080239 OMIM:617773 UMLS:CN651335" -MONDO:0011773 "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation." "UMLS:CN029084 GARD:0009657 OMIMPS:607095 DOID:0050640 MESH:C538256 UMLS:C1846796 ICD10:Q77.7 Orphanet:93347" +MONDO:0011773 "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation." "UMLS:CN029084 OMIM:607095 ICD10CM:Q77.7 GARD:0009657 OMIMPS:607095 OMIM:617396 DOID:0050640 MESH:C538256 UMLS:C1846796 Orphanet:93347" MONDO:0017086 "Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated." "SCTID:70534000 Orphanet:268861 UMLS:CN202446 GARD:0004018" http://identifiers.org/hgnc/2910 MONDO:0001471 "An infectious meningitis caused by infection with Histoplasma capsulatum." "ICD9:115.91 DOID:12246" @@ -19202,60 +19194,60 @@ MONDO:0033642 "OMIM:619075" http://identifiers.org/hgnc/2077 UBERON:0005058 http://identifiers.org/hgnc/1713 -MONDO:0015523 "A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma." "Orphanet:157791 DOID:0080190 MESH:D018323 ICDO:9133/1 UMLS:C0206732 ICDO:9133/3 SCTID:54124005 NCIT:C3800 ONCOTREE:EHAE ICDO:9130/3 ICD10:D18.0" +MONDO:0015523 "A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma." "Orphanet:157791 DOID:0080190 MESH:D018323 ICDO:9133/1 UMLS:C0206732 ICDO:9133/3 SCTID:54124005 NCIT:C3800 ONCOTREE:EHAE ICD10CM:D18.0 ICDO:9130/3" SO:0000054 "A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number." MONDO:0003037 "A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body." "Orphanet:55654 DOID:4535 ICD9:704.09 NCIT:C34720 SCTID:53602002 MESH:D007039 OMIMPS:605389" NCBITaxon:5691 "GC_ID:1" -MONDO:0017912 "Orphanet:320332 ICD10:G11.4" +MONDO:0017912 "Orphanet:320332 ICD10CM:G11.4" http://identifiers.org/hgnc/25009 -MONDO:0004794 "UMLS:C0339295 SCTID:14366000 DOID:9461 ICD9:370.34 ICD10:H16.21" -MONDO:0005011 "A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement." "SCTID:7620006 ICD9:555.1 DOID:8778 NCIT:C2965 EFO:0000384 NCIT:C35211 UMLS:CN043071 ICD10:K50.1 Orphanet:206 SCTID:34000006 OMIM:266600" +MONDO:0004794 "UMLS:C0339295 SCTID:14366000 DOID:9461 ICD9:370.34" +MONDO:0005011 "A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement." "SCTID:7620006 ICD9:555.1 DOID:8778 NCIT:C2965 EFO:0000384 NCIT:C35211 UMLS:CN043071 Orphanet:206 SCTID:34000006 OMIM:266600" MONDO:0018510 "A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "NCIT:C5803 DOID:4434 UMLS:C1336005 Orphanet:423975 UMLS:CN237515" MONDO:0025356 "OMIM:301060" MONDO:0024537 "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene." "UMLS:CN029849 Orphanet:97229 OMIM:211530 NCIT:C133724" MONDO:0016714 -MONDO:0010083 "Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation." "Orphanet:22 DOID:0060175 SCTID:49748000 MESH:C535803 OMIM:271980 UMLS:C0268631 ICD10:E72.8 GARD:0007695" +MONDO:0010083 "Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation." "Orphanet:22 DOID:0060175 SCTID:49748000 MESH:C535803 OMIM:271980 ICD10CM:E72.8 UMLS:C0268631 GARD:0007695" NCBITaxon:34390 "GC_ID:1" -MONDO:0018278 "Orphanet:370968 OMIM:608840 OMIM:615351 OMIM:613156 OMIM:613155 ICD10:G71.2 OMIM:606612" +MONDO:0018278 "Orphanet:370968 OMIM:608840 OMIM:615351 OMIM:613156 OMIM:613155 ICD10CM:G71.2 OMIM:606612" PATO:0002014 "A structural quality that inheres in a bearer by virtue of the bearer's containing hollow areas." MONDO:0018012 GO:0072350 "The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing three carboxyl (COOH) groups or anions (COO-)." -MONDO:0009099 "This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism." "Orphanet:3145 OMIM:221995 SCTID:716200002 ICD10:N21.5 GARD:0000259" -MONDO:0012367 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene." "DOID:0110391 GARD:0010396 UMLS:C1835923 ICD10:H35.5 OMIM:609923 MESH:C563685" +MONDO:0009099 "This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism." "Orphanet:3145 OMIM:221995 SCTID:716200002 GARD:0000259" +MONDO:0012367 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene." "DOID:0110391 GARD:0010396 UMLS:C1835923 OMIM:609923 MESH:C563685" MONDO:0000996 "A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland." "DOID:10290 NCIT:C5533 UMLS:C1335512" MONDO:0033641 "OMIM:619074" http://identifiers.org/hgnc/2076 MONDO:0000832 MONDO:0027751 "Orphanet:250811" -MONDO:0001197 "ICD9:287.1 DOID:11125 ICD10:D69.1 UMLS:C0235604 SCTID:267532001" +MONDO:0001197 "ICD9:287.1 DOID:11125 UMLS:C0235604 SCTID:267532001" MONDO:0019477 -MONDO:0017913 "ICD10:G11.4 Orphanet:320335 UMLS:CN227219" +MONDO:0017913 "Orphanet:320335 UMLS:CN227219 ICD10CM:G11.4" MONDO:0007415 "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene." "DOID:0080111 MESH:C565128 Orphanet:1460 Orphanet:254902 OMIM:124000 GARD:0008295" MONDO:0100089 "X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia." MONDO:0002730 "A kidney neoplasm that occurs during childhood." "UMLS:C1333003 DOID:3675 NCIT:C6563" -MONDO:0044354 "Rosai-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia." "ONCOTREE:RDD MedDRA:10063397 Orphanet:158014 ICD10:D76.3" +MONDO:0044354 "Rosai-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia." "ONCOTREE:RDD MedDRA:10063397 Orphanet:158014" NCBITaxon:5690 "GC_ID:1" GO:0004888 "Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction." MONDO:0030046 "OMIM:618890" -MONDO:0001161 "A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness." "NCIT:C92631 ICD10:F60.1 ICD9:301.2 SCTID:52954000 ICD9:301.20 MESH:D012557 DOID:10936" -MONDO:0019323 "Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed." "EFO:0008603 Orphanet:79480 ICD10:L10.4 UMLS:C0263312 SCTID:36739006 MedDRA:10058917" -MONDO:0010671 "OMIM:309800 MESH:C537464 SCTID:438504004 Orphanet:568 MESH:C564457 SCTID:717222003 ICD9:759.89 Orphanet:85275 GARD:0005066 ICD10:Q11.2" +MONDO:0001161 "A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness." "NCIT:C92631 ICD9:301.2 SCTID:52954000 ICD9:301.20 MESH:D012557 ICD10CM:F60.1 DOID:10936" +MONDO:0019323 "Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed." "EFO:0008603 Orphanet:79480 ICD10CM:L10.4 UMLS:C0263312 SCTID:36739006 MedDRA:10058917" +MONDO:0010671 "ICD10CM:Q11.2 GARD:0005066 OMIM:309800 MESH:C564457 Orphanet:85275 MESH:C537464 ICD9:759.89 SCTID:438504004 Orphanet:568 SCTID:717222003" MONDO:0004793 CHEBI:33287 "A fertilizer is any substance that is added to soil or water to assist the growth of plants." CHEBI:33833 "A heterocyclic compound formally derived from an arene by replacement of one or more methine (-C=) and/or vinylene (-CH=CH-) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous pi-electron system characteristic of aromatic systems and a number of out-of-plane pi-electrons corresponding to the Hueckel rule (4n+2)." MONDO:0001406 "A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths." "UMLS:C0031118 NCIT:C4972 DOID:1192 ONCOTREE:PNS SCTID:126980002 ICD9:239.2 MESH:D010524 MESH:D018317 NCIT:C3321" MONDO:0018275 MONDO:0100360 "A disease caused by infection with herpes simplex type 2." -MONDO:0016787 "An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy." "UMLS:C1266159 SCTID:609515005 ICD10:D39.2 DOID:3593 Orphanet:254698 NCIT:C6900 ICDO:9105/3 ONCOTREE:ETT" +MONDO:0016787 "An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy." "UMLS:C1266159 SCTID:609515005 DOID:3593 ICD10CM:D39.2 Orphanet:254698 NCIT:C6900 ICDO:9105/3 ONCOTREE:ETT" http://identifiers.org/hgnc/2079 MONDO:0001275 "Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent." "DOID:1138 GARD:0010264 SCTID:189167009 NCIT:C6935 UMLS:C0347515 MESH:D008579" CHEBI:33300 "Any p-block element atom that is in group 15 of the periodic table: nitrogen, phosphorus, arsenic, antimony and bismuth." -MONDO:0002440 "Polycythemia that is caused by excess erythropoietin." "SCTID:367328005 NCIT:C35434 DOID:2839 ICD10:D75.1 UMLS:C0391869" +MONDO:0002440 "Polycythemia that is caused by excess erythropoietin." "SCTID:367328005 NCIT:C35434 DOID:2839 UMLS:C0391869" UBERON:0002558 CHR:9606-chr12q -MONDO:0001196 "ICD10:F52.6 ICD9:302.76 DOID:11120 MESH:D004414 SCTID:41021005" -MONDO:0017077 "ICD10:Q05.7 Orphanet:268813 ICD10:Q05.4 ICD10:Q05.0 ICD10:Q05.5 ICD10:Q05.2 SCTID:203994003 ICD10:Q05.1 ICD10:Q05.3 ICD10:Q05.8 ICD10:Q05.6 ICD10:Q05.9" -MONDO:0019547 "Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia." "GARD:0000329 SCTID:238931006 ICD10:L98.3 UMLS:C0343101 MESH:C536693 ICD9:682.9 Orphanet:901" +MONDO:0001196 "ICD9:302.76 DOID:11120 MESH:D004414 SCTID:41021005" +MONDO:0017077 "ICD10CM:Q05.7 ICD10CM:Q05.2 ICD10CM:Q05.1 ICD10CM:Q05.9 ICD10CM:Q05.5 Orphanet:268813 ICD10CM:Q05.6 ICD10CM:Q05.0 ICD10CM:Q05.8 SCTID:203994003 ICD10CM:Q05.4 ICD10CM:Q05.3" +MONDO:0019547 "Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia." "GARD:0000329 SCTID:238931006 UMLS:C0343101 MESH:C536693 ICD9:682.9 Orphanet:901" MONDO:0030043 "OMIM:618885" http://identifiers.org/hgnc/3010 GO:0048635 "Any process that stops, prevents, or reduces the frequency, rate or extent of muscle development." @@ -19265,18 +19257,18 @@ http://identifiers.org/hgnc/19129 MONDO:0006018 "A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate." "EFO:0007547 UMLS:C0043195 DOID:3047 MESH:D014924" FOODON:00002505 "Dairy cattle are a type of cattle bred for the ability to produce large quantities of milk, from which dairy products are made. This class covers both male and female members of a dairy breed."@en GO:0065010 "Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell." -MONDO:0007309 "Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications." "DOID:0110148 UMLS:C0270911 GARD:0001245 OMIM:118220 Orphanet:101081 NCIT:C75468 ICD10:G60.0" +MONDO:0007309 "Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications." "DOID:0110148 UMLS:C0270911 GARD:0001245 OMIM:118220 Orphanet:101081 NCIT:C75468 ICD10CM:G60.0" MONDO:0004289 "An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness." "UMLS:C0280329 DOID:7583 NCIT:C8189" CHEBI:62761 "An amino acid derivative resulting from reaction of tyrosine at the amino group or the carboxy group, any substitution of phenyl hydrogens, or from the replacement of any hydrogen of tyrosine by a heteroatom. The definition normally excludes peptides containing tyrosine residues." -MONDO:0013464 "Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours." "OMIM:613855 Orphanet:211067 MESH:C566601 ICD10:G11.8 DOID:0050993 SCTID:718756005 UMLS:C1866039" -MONDO:0018276 "ICD10:G71.2 OMIM:613153 OMIM:615249 OMIM:615350 OMIM:613154 OMIM:615287 OMIM:616094 OMIM:613150 UMLS:CN229783 OMIM:613152 GARD:0012584 DOID:0050588 OMIM:616052 Orphanet:370953 OMIM:615181 OMIM:615351 OMIM:613155 OMIM:614643 OMIM:615041 OMIM:613156 OMIM:613151 OMIM:614830" -MONDO:0019960 "VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome)." "SCTID:253005002 GARD:0003787 ICD10:E16.8 GARD:0005493 UMLS:C0011993 ICD9:239.7 MESH:D003969 EFO:1000622 NCIT:C26749 ICDO:8155/1 MedDRA:10047430 Orphanet:97282 DOID:5574" +MONDO:0013464 "Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours." "OMIM:613855 Orphanet:211067 ICD10CM:G11.8 MESH:C566601 DOID:0050993 SCTID:718756005 UMLS:C1866039" +MONDO:0018276 "OMIM:613153 OMIM:615249 OMIM:615350 OMIM:613154 OMIM:615287 OMIM:616094 OMIM:613150 UMLS:CN229783 OMIM:613152 GARD:0012584 DOID:0050588 OMIM:616052 Orphanet:370953 OMIM:615181 OMIM:615351 OMIM:613155 OMIM:614643 OMIM:615041 OMIM:613156 ICD10CM:G71.2 OMIM:613151 OMIM:614830" +MONDO:0019960 "VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome)." "SCTID:253005002 GARD:0003787 GARD:0005493 UMLS:C0011993 ICD9:239.7 MESH:D003969 EFO:1000622 NCIT:C26749 ICD10CM:E16.8 ICDO:8155/1 MedDRA:10047430 Orphanet:97282 DOID:5574" MONDO:0004206 "An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells." "UMLS:C1335575 NCIT:C5374 DOID:7388" -MONDO:0016978 "SCTID:717921000 Orphanet:263339 ICD10:C37 UMLS:CN202280" -MONDO:0014592 "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene." "OMIM:616335 DOID:0080107 Orphanet:2518 UMLS:C4225362" +MONDO:0016978 "SCTID:717921000 ICD10CM:C37 Orphanet:263339 UMLS:CN202280" +MONDO:0014592 "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene." "OMIM:616335 Orphanet:2518 DOID:0080107 UMLS:C4225362" MONDO:0000830 -MONDO:0021400 "A polyp that involves the colon." "SCTID:68496003 ICD10:K63.5 NCIT:C2954 MESH:D003111" -MONDO:0017154 "OBSOLETE. Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension." "SCTID:445237003 Orphanet:275813 UMLS:C1868851 ICD10:I27.2 EFO:0009197" +MONDO:0021400 "A polyp that involves the colon." "ICD10CM:K63.5 SCTID:68496003 NCIT:C2954 MESH:D003111" +MONDO:0017154 "OBSOLETE. Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension." "SCTID:445237003 Orphanet:275813 UMLS:C1868851 ICD10CM:I27.2 EFO:0009197" CHR:9606-chr12p GO:0030202 "The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues." MONDO:0015514 "UMLS:CN237424 MESH:D006130 Orphanet:156643" @@ -19290,16 +19282,16 @@ MONDO:0010673 "OMIM:309840 MESH:C564098 UMLS:C1839708" MONDO:0018010 "Orphanet:329888" FOODON:00001958 GO:0006833 "The directed movement of water (H2O) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." -MONDO:0019065 "A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." "ICD9:277.30 ICD10:E85 Orphanet:69 ICD10:E85.3 EFO:1001875 HP:0011034 SCTID:17602002 ICD9:277.3 ICD10:E85.8 UMLS:C0002726 ICD10:E85.4 MESH:D000686 ICD10:E85.9 ICD10:E85.0 MedDRA:10002022 ONCOTREE:MIDDA NCIT:C2868 ICD10:E85.2 ICD10:E85.1 DOID:9120" -MONDO:0016977 "ICD10:C37 Orphanet:263335 UMLS:CN202279" +MONDO:0019065 "A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." "ICD9:277.30 Orphanet:69 ICD10CM:E85.2 EFO:1001875 HP:0011034 SCTID:17602002 ICD9:277.3 ICD10CM:E85.0 UMLS:C0002726 ICD10CM:E85.8 ICD10CM:E85.3 MESH:D000686 ICD10CM:E85.4 ICD10CM:E85.9 MedDRA:10002022 ONCOTREE:MIDDA NCIT:C2868 ICD10CM:E85.1 DOID:9120" +MONDO:0016977 "ICD10CM:C37 Orphanet:263335 UMLS:CN202279" HP:0000256 "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium." "UMLS:C4083076 Fyler:4335 UMLS:C4280664 UMLS:C4255213 UMLS:C4280663" GO:0034284 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus." MONDO:0001194 -MONDO:0008945 "A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" "DOID:12707 SCTID:73495003 ICD10:G11.1 EFO:1001053 UMLS:C0007761 OMIM:213400 MESH:D002527" +MONDO:0008945 "A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" "DOID:12707 SCTID:73495003 ICD10CM:G11.1 EFO:1001053 UMLS:C0007761 OMIM:213400 MESH:D002527" MONDO:0017075 "Orphanet:268770" MONDO:0006284 "A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." "UMLS:C1334549 EFO:1000344 NCIT:C5907" GO:0043010 "The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field." -MONDO:0011249 "A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy." "ICD10:G24.1 OMIM:602554 MESH:C536969 DOID:0090058 UMLS:C1865205 Orphanet:256" +MONDO:0011249 "A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy." "OMIM:602554 MESH:C536969 DOID:0090058 UMLS:C1865205 Orphanet:256" http://identifiers.org/hgnc/3012 MONDO:0011583 "A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3." "UMLS:C3888309 OMIM:605714 Orphanet:324713 Orphanet:85458 UMLS:C3888307 Orphanet:324703 UMLS:C3888308 UMLS:C2751536 Orphanet:324723 Orphanet:324708 Orphanet:324718 UMLS:C2751494 DOID:0070028 Orphanet:100006" MONDO:0005369 "A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement." "ICD9:209.60 NCIT:C2915 OMIM:114900 HP:0100570 GARD:0009316 MESH:D002276 EFO:0004243 SCTID:443492008 ICDO:8240/3 ICDO:8241/3" @@ -19308,26 +19300,26 @@ UBERON:0006255 MONDO:0700130 "A chromosomal disorder consisting of the partial duplication of chromosome 21." MONDO:0002391 CHEBI:35604 "A negative ion consisting solely of carbon and oxygen atoms, and therefore having the general formula CxOy(n-) for some integers x, y and n." -MONDO:0018273 "Orphanet:370930 ICD10:E77.8 UMLS:CN204859" +MONDO:0018273 "ICD10CM:E77.8 Orphanet:370930 UMLS:CN204859" MONDO:0010676 "OMIM:309950 MESH:C564097 UMLS:C1839671" GO:0140243 "Any process that regulates translation occurring at the synapse." -MONDO:0012667 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene." "UMLS:C1969639 DOID:0110446 ICD10:I42.0 OMIM:611407 MESH:C566954" -MONDO:0016976 "Orphanet:263331 ICD10:C37 SCTID:717922007 UMLS:CN202278" +MONDO:0012667 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene." "UMLS:C1969639 DOID:0110446 ICD10CM:I42.0 OMIM:611407 MESH:C566954" +MONDO:0016976 "Orphanet:263331 SCTID:717922007 UMLS:CN202278 ICD10CM:C37" MONDO:0003066 "Inflammation of the submandibular lymph nodes." "UMLS:C0235591 DOID:4636 SCTID:15170009 NCIT:C27016" -MONDO:0019499 "Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome." "UMLS:C0041408 GARD:0007831 NCIT:C26900 ICD10:Q96.1 ICD10:Q96.2 MESH:D014424 SCTID:38804009 GARD:0002459 MedDRA:10045181 ICD10:Q96.9 ICD10:Q96.0 Orphanet:881 ICD10:Q96 ICD9:758.7 ICD10:Q96.4 GARD:0002458 GARD:0002540 ICD10:Q96.8 DOID:3491 ICD10:Q96.3" +MONDO:0019499 "Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome." "ICD10CM:Q96.1 ICD10CM:Q96.3 UMLS:C0041408 GARD:0007831 NCIT:C26900 MESH:D014424 ICD10CM:Q96.9 ICD10CM:Q96.0 ICD10CM:Q96.4 SCTID:38804009 GARD:0002459 MedDRA:10045181 Orphanet:881 ICD9:758.7 ICD10CM:Q96.8 GARD:0002458 GARD:0002540 ICD10CM:Q96.2 DOID:3491" HP:0002717 "UMLS:C4025685" UBERON:0005055 -MONDO:0001193 "ICD9:363.30 ICD9:363.3 DOID:11086 ICD10:H31.00 SCTID:53854005 ICD10:H31.0" +MONDO:0001193 "ICD9:363.30 ICD9:363.3 DOID:11086 SCTID:53854005" MONDO:0001374 "A malignant mesenchymal cell neoplasm that affects the urinary bladder." "SCTID:278046008 NCIT:C4669 UMLS:C0349666 DOID:11812" -MONDO:0011279 "An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31." "MESH:C566418 ICD10:H90.3 OMIM:603010 DOID:0110472 UMLS:C1864276" -MONDO:0015433 "Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region." "ICD10:Q93.2 MESH:C538046 GARD:0004724 Orphanet:1441" +MONDO:0011279 "An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31." "MESH:C566418 OMIM:603010 DOID:0110472 UMLS:C1864276" +MONDO:0015433 "Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region." "MESH:C538046 ICD10CM:Q93.2 GARD:0004724 Orphanet:1441" MONDO:0030042 "OMIM:618884" http://identifiers.org/hgnc/3013 PATO:0001863 "A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration." MONDO:0002392 UBERON:0006254 MONDO:0010675 "UMLS:C1442927 OMIM:309930 MESH:C563247" -MONDO:0011342 "SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." "DOID:0070258 Orphanet:238459 GARD:0012409 OMIM:603585 SCTID:723624008 MESH:C567040 ICD10:E77.8 UMLS:C1970344" +MONDO:0011342 "SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." "DOID:0070258 Orphanet:238459 GARD:0012409 OMIM:603585 SCTID:723624008 ICD10CM:E77.8 MESH:C567040 UMLS:C1970344" MONDO:0010588 "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene." "Orphanet:891 UMLS:C1844579 MESH:C564428 OMIM:305390 DOID:0111413" MONDO:8000013 "UMLS:C4310735 OMIM:617068" MONDO:0022865 "GARD:0001528" @@ -19338,20 +19330,20 @@ MONDO:0021668 "MESH:D010146 UMLS:C1300028 DOID:0060164 SCTID:373673007" MONDO:0003442 "A papillary epithelial neoplasm that involves the urinary bladder urothelium." "NCIT:C39857 DOID:5432 UMLS:C1511197" http://identifiers.org/hgnc/1980 GO:0045760 "Any process that activates or increases the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels." -MONDO:0016129 "Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall." "ICD10:K52.8 GARD:0009142 ICD9:558.41 NCIT:C35330 SCTID:359804008 MedDRA:10017902 UMLS:C1262481 Orphanet:2070 DOID:4031" +MONDO:0016129 "Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall." "GARD:0009142 ICD9:558.41 ICD10CM:K52.8 NCIT:C35330 SCTID:359804008 MedDRA:10017902 UMLS:C1262481 Orphanet:2070 DOID:4031" MONDO:0021952 "Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries." "ICD9:708.8 UMLS:C1260879 SCTID:400009001 GARD:0009139 MESH:C535299" MONDO:0018887 "OBSOLETE. Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE)." "Orphanet:535" -MONDO:0021462 "A benign neoplasm that involves the rectum." "NCIT:C4774 ICD10:D12.8 UMLS:C0496867 SCTID:92318000" +MONDO:0021462 "A benign neoplasm that involves the rectum." "NCIT:C4774 ICD10CM:D12.8 UMLS:C0496867 SCTID:92318000" UBERON:0001356 -MONDO:0007116 "Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant." "ICD10:D18.0 GARD:0000676 OMIM:106070 Orphanet:1062" -MONDO:0009683 "Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement." "UMLS:C0270968 MESH:C535897 SCTID:43226001 ICD10:G71.0 GARD:0003844 DOID:0110282 ICD9:359.89 OMIM:254110 Orphanet:1878" +MONDO:0007116 "Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant." "GARD:0000676 ICD10CM:D18.0 OMIM:106070 Orphanet:1062" +MONDO:0009683 "Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement." "UMLS:C0270968 ICD10CM:G71.0 MESH:C535897 SCTID:43226001 GARD:0003844 DOID:0110282 ICD9:359.89 OMIM:254110 Orphanet:1878" GO:0016444 "Recombination occurring within or between DNA molecules in somatic cells." -MONDO:0004592 "A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs." "ICD10:L01 EFO:1000714 ICD9:684 DOID:8504 SCTID:48277006 NCIT:C99088 MESH:D007169 ICD10:L01.0 UMLS:C0021099 ICD10:L01.00" +MONDO:0004592 "A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs." "EFO:1000714 ICD9:684 DOID:8504 SCTID:48277006 NCIT:C99088 ICD10CM:L01 MESH:D007169 UMLS:C0021099" MONDO:0020205 "Orphanet:98617" MONDO:0005590 "A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist." "DOID:3007 NCIT:C4017 EFO:0006318 MESH:D018270" -MONDO:0005028 "A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor." "EFO:0000478 ONCOTREE:ESCA OMIM:109350 OMIM:614266 Orphanet:99976 UMLS:C0279628 ICD10:C15.2 SCTID:276803003 ICD10:C15.5 NCIT:C4025 DOID:4914" +MONDO:0005028 "A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor." "ICD10CM:C15.5 EFO:0000478 ONCOTREE:ESCA OMIM:109350 OMIM:614266 Orphanet:99976 UMLS:C0279628 SCTID:276803003 NCIT:C4025 DOID:4914" NCBITaxon:142786 "GC_ID:1" -MONDO:0015985 "Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet." "GARD:0000920 ICD10:Q78.4 SCTID:720566004 UMLS:C4303993 Orphanet:1844" +MONDO:0015985 "Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet." "ICD10CM:Q78.4 GARD:0000920 SCTID:720566004 UMLS:C4303993 Orphanet:1844" UBERON:0002553 FOODON:03411134 "Mammals (from Latin mamma \"breast\") are vertebrate animals constituting the class Mammalia, and characterized by the presence of mammary glands which in females produce milk for feeding (nursing) their young, a neocortex (a region of the brain), fur or hair, and three middle ear bones."@en GO:0090482 "Enables the transfer of a vitamin from one side of a membrane to the other." @@ -19363,19 +19355,18 @@ GO:0002581 "Any process that stops, prevents, or reduces the frequency, rate, or MONDO:0019217 MONDO:0021471 "A benign neoplasm that involves the endometrium." "UMLS:C0686239 NCIT:C4894 SCTID:92086004" MONDO:0100040 "A monogenic disease that has material basis in mutation in the FOXG1 gene." -MONDO:0007732 "Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." "OMIM:142900 NCIT:C125592 MedDRA:10050469 ICD10:Q87.2 GARD:0006666 MESH:C535326 SCTID:19092004 DOID:0060468 ICD9:759.89 UMLS:C0265264 Orphanet:392" +MONDO:0007732 "Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." "OMIM:142900 ICD10CM:Q87.2 NCIT:C125592 MedDRA:10050469 GARD:0006666 MESH:C535326 SCTID:19092004 DOID:0060468 ICD9:759.89 UMLS:C0265264 Orphanet:392" SO:1000028 "A chromosomal structure variation within a single chromosome." UBERON:0001355 MONDO:0020206 "Orphanet:98618" FOODON:03400643 "Codex Alimentarius, Volume 2 - 1993, Section 2: Pesticide Residues in Food.\n\nThe Codex Classification of food and animal feed commodities moving in trade and the description of the various items and groups of food and animal feedstuffs included in the present document have been developed by the Codex Committee on Pesticide Residues. It was first adopted by the 18th Session of the Codex Alimentarius Commission, (1989).\n\nThe Codex Classification includes food commodities and animal feedstuffs for which Codex maximum residue limits will not necessarily be established. The Classification is intended to be as complete a listing of food commodities in trade as possible, classified into groups on the basis of the commodity's similar potential for pesticide residues.\n\nThe Classification may also be appropriate for other purposes such as setting maximum levels for other types of residues or for other contaminants in food. The Codex Classification should be consulted in order to obtain a precise description of the food or animal feed commodities and, especially, in cases where Codex maximum residue limits have been set for groups of food and groups of animal feedstuffs. The Codex Classification is intended to promote harmonization of the terms used to describe commodities which are subject to maximum residue limits and of the approach to grouping commodities with similar potential for residue for which a common group maximum residue limit can be set."@en "http://www.langual.org/langual_thesaurus.asp?termid=A0643" MONDO:0022863 "GARD:0001526" -MONDO:0003323 MONDO:0044141 "A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder." "EFO:1001906 NCIT:C97193 SCTID:56576003" -MONDO:0012534 "Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy." "UMLS:C1857682 Orphanet:254925 DOID:0111494 MESH:C565690 OMIM:610678 SCTID:766876004 ICD10:E88.8" +MONDO:0012534 "Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy." "UMLS:C1857682 Orphanet:254925 DOID:0111494 MESH:C565690 ICD10CM:E88.8 OMIM:610678 SCTID:766876004" MONDO:0100066 "A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias." UBERON:0004951 GO:0086065 "Any process that mediates interactions between a cell and its surroundings that contributes to the process of cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment." -MONDO:0017681 "A type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP." "Orphanet:308166 ICD10:Q82.8" +MONDO:0017681 "A type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP." "Orphanet:308166 ICD10CM:Q82.8" MONDO:0013899 "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene." "Orphanet:3449 OMIM:614819 UMLS:C3553785" http://identifiers.org/hgnc/237 MONDO:0007108 "A carcinoma that arises from epithelial cells of the anal canal" "SCTID:285310000 Orphanet:424013 NCIT:C7489 OMIM:105580 DOID:6126" @@ -19384,32 +19375,32 @@ MONDO:0022862 "GARD:0001523" MONDO:0005721 UBERON:0000158 MONDO:0003857 "A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population." "DOID:6333 UMLS:C1334558 NCIT:C9183 UMLS:C4331858" -MONDO:0009970 "An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome." "OMIM:267430 Orphanet:3033 Orphanet:97369 ICD10:Q63.8" -MONDO:0006662 "Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen." "ICD10:G03.0 MESH:D008582 UMLS:C0025290 SCTID:58170007 DOID:12157 SCTID:301770000 EFO:1000823 NCIT:C118299 MedDRA:10003458" -MONDO:0003105 "A disease involving the prostate gland." "DOID:47 ICD9:602.9 ICD10:N42.9 UMLS:C0033575 NCIT:C26865 ICD9:602.8 SCTID:30281009 MESH:D011469" +MONDO:0009970 "An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome." "OMIM:267430 Orphanet:3033 Orphanet:97369 ICD10CM:Q63.8" +MONDO:0006662 "Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen." "MESH:D008582 UMLS:C0025290 SCTID:58170007 DOID:12157 SCTID:301770000 EFO:1000823 NCIT:C118299 MedDRA:10003458" +MONDO:0003105 "A disease involving the prostate gland." "DOID:47 ICD9:602.9 UMLS:C0033575 NCIT:C26865 ICD9:602.8 SCTID:30281009 MESH:D011469" NCIT:C25444 -MONDO:0009251 "Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants." "ICD10:E74.1 DOID:5204 SCTID:28183005 OMIM:229700 Orphanet:348 UMLS:C0016756 GARD:0002400 ICD10:E74.19 NCIT:C128119" +MONDO:0009251 "Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants." "SCTID:28183005 DOID:5204 ICD10CM:E74.1 OMIM:229700 Orphanet:348 UMLS:C0016756 GARD:0002400 NCIT:C128119" UBERON:0001913 "An emulsion of fat globules within a fluid that is secreted by the mammary gland during lactation." UBERON:0005051 -MONDO:0004525 "A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows." "ICD9:133.0 UMLS:C0036262 DOID:8295 MESH:D012532 NCIT:C34998 SCTID:128869009 ICD10:B86" -MONDO:0021664 "Orphanet:99079 ICD10:Q25.4" +MONDO:0004525 "A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows." "ICD9:133.0 UMLS:C0036262 DOID:8295 MESH:D012532 ICD10CM:B86 NCIT:C34998 SCTID:128869009" +MONDO:0021664 "Orphanet:99079 ICD10CM:Q25.4" MONDO:0000829 UBERON:0004952 MONDO:0002126 -MONDO:0001251 "Chronic form of periapical periodontitis." "SCTID:718052004 ICD9:522.6 UMLS:C0392492 DOID:11269 ICD10:K04.5" -MONDO:0014796 "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene." "DOID:0060896 UMLS:C4225186 OMIM:616840 ICD10:G20" +MONDO:0001251 "Chronic form of periapical periodontitis." "SCTID:718052004 ICD9:522.6 UMLS:C0392492 ICD10CM:K04.5 DOID:11269" +MONDO:0014796 "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene." "DOID:0060896 UMLS:C4225186 OMIM:616840" http://identifiers.org/hgnc/236 MONDO:0019219 "UMLS:CN227586 Orphanet:79169" -MONDO:0020466 "UMLS:CN776902 Orphanet:99226 ICD10:Q96.9 UMLS:C0041408 SCTID:710008008 NCIT:C36630" +MONDO:0020466 "UMLS:CN776902 ICD10CM:Q96.9 Orphanet:99226 UMLS:C0041408 SCTID:710008008 NCIT:C36630" ENVO:02500026 "A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process." MONDO:0003860 "A meningioma that affects the cerebellopontine angle." "UMLS:C1263882 NCIT:C5300 SCTID:126948004 DOID:6337" MONDO:0002813 "A malignant mesenchymal neoplasm arising from adipocytes." "UMLS:C0346117 ICD9:171.9 DOID:3939 SCTID:254828009 NCIT:C4501" MONDO:0020200 "Orphanet:98612" UBERON:0018226 -MONDO:0009019 "A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." "GARD:0006196 ICD10:H18.5 Orphanet:293603 OMIM:217700 MESH:C536439 DOID:0060649" +MONDO:0009019 "A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." "OMIM:217700 MESH:C536439 GARD:0006196 DOID:0060649 ICD10CM:H18.5 Orphanet:293603" MONDO:0008483 "OMIM:184450" GO:0016887 "Catalysis of the reaction: ATP + H2O = ADP + H+ Pi. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient." -MONDO:0019347 "Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." "SCTID:239065004 ICD10:Q80.8 Orphanet:817 Orphanet:263543 OMIMPS:270300 OMIM:270300 DOID:0060283 GARD:0007347 OMIM:613088 ICD9:757.39" +MONDO:0019347 "Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." "SCTID:239065004 ICD10CM:Q80.8 Orphanet:817 Orphanet:263543 OMIMPS:270300 OMIM:270300 DOID:0060283 GARD:0007347 OMIM:613088 ICD9:757.39" CL:1000892 "KUPO:0001030" MONDO:0006080 http://identifiers.org/hgnc/33551 @@ -19422,29 +19413,29 @@ MONDO:0021511 "A benign neoplasm that involves the adrenal gland." "SCTID:919670 MONDO:0006091 "A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "DOID:0050911 SCTID:253002004 EFO:1000092 ICD9:209.11 ICDO:8240/1 UMLS:C0334298 NCIT:C4138" http://identifiers.org/hgnc/1984 MONDO:0004207 "An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells." "NCIT:C5373 UMLS:C1335572 DOID:7389" -MONDO:0007019 "An inflammatory pathologic process that affects the vulva and the vagina." "ICD10:N76.0 MESH:D014848 UMLS:C0042998 MedDRA:10047794 EFO:1001240 SCTID:53277000 NCIT:C35131 DOID:2273" +MONDO:0007019 "An inflammatory pathologic process that affects the vulva and the vagina." "MESH:D014848 UMLS:C0042998 MedDRA:10047794 EFO:1001240 SCTID:53277000 NCIT:C35131 DOID:2273" MONDO:0012299 "Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene." "OMIM:609549 MESH:C563700 UMLS:C1836006 Orphanet:35612" GO:0072376 "A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events." -MONDO:0007272 "Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." "ICD10:E50.8 SCTID:726079008 OMIM:115300 MESH:C567296 OMIM:277350 Orphanet:199285" +MONDO:0007272 "Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." "SCTID:726079008 OMIM:115300 MESH:C567296 OMIM:277350 Orphanet:199285 ICD10CM:E50.8" MONDO:0009681 "OMIM:254090 UMLS:CN033863" HP:0002250 "Any abnormality of the large intestine." "UMLS:C4025715" UBERON:0001352 -MONDO:0011045 "A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies." "UMLS:C4275099 Orphanet:3434 UMLS:C1832440 SCTID:715533002 MESH:C537686 ICD10:Q87.8 OMIM:601349 GARD:0003693" +MONDO:0011045 "A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies." "UMLS:C4275099 ICD10CM:Q87.8 Orphanet:3434 UMLS:C1832440 SCTID:715533002 MESH:C537686 OMIM:601349 GARD:0003693" MONDO:0020201 "MedDRA:10072143 HP:0000524 UMLS:C0239105 Orphanet:98613" -MONDO:0020467 "UMLS:CN776903 ICD10:Q96.3 SCTID:710010005 UMLS:C4040907 ICD10:Q96.4 Orphanet:99228" -MONDO:0018018 "ICD9:277.39 UMLS:CN204235 UMLS:C0342623 SCTID:237877004 ICD10:E85.8 Orphanet:330001" -MONDO:0015286 "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation." "MESH:D018981 DOID:5212 SCTID:238049009 ICD9:271.8 GARD:0010307 ICD10:E77.8 NCIT:C84615 UMLS:C0282577 Orphanet:137" -MONDO:0007239 "A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." "OMIM:607602 SCTID:254167000 ICD10:Q80.3 MESH:D017488 NCIT:C62569 DOID:4603 OMIM:113800 Orphanet:312 GARD:0001039" -MONDO:0024481 "A disease that involves the cutaneous appendage." "SCTID:238714008 UMLS:C0037272" -MONDO:0008482 "OMIM:184400 Orphanet:3181 MESH:C535802 ICD10:Q74.0 MedDRA:10010455 HP:0000912 GARD:0007693 SCTID:79120002" +MONDO:0020467 "UMLS:CN776903 SCTID:710010005 UMLS:C4040907 ICD10CM:Q96.3 Orphanet:99228 ICD10CM:Q96.4" +MONDO:0018018 "ICD10CM:E85.8 ICD9:277.39 UMLS:CN204235 UMLS:C0342623 SCTID:237877004 Orphanet:330001" +MONDO:0015286 "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation." "MESH:D018981 DOID:5212 SCTID:238049009 ICD9:271.8 GARD:0010307 NCIT:C84615 UMLS:C0282577 Orphanet:137 ICD10CM:E77.8" +MONDO:0007239 "A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." "OMIM:607602 SCTID:254167000 MESH:D017488 NCIT:C62569 DOID:4603 OMIM:113800 Orphanet:312 GARD:0001039" +MONDO:0024481 "A disease that involves the cutaneous appendage." "SCTID:238714008 UMLS:C0037272 ICD10CM:L60-L75" +MONDO:0008482 "Orphanet:3181 OMIM:184400 MESH:C535802 MedDRA:10010455 ICD10CM:Q74.0 HP:0000912 GARD:0007693 SCTID:79120002" MONDO:0021086 "A benign or malignant neoplasm that affects the upper or lower gingiva." "NCIT:C3057 UMLS:C0017570 SCTID:126792007" GO:0044433 "OBSOLETE. Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell." CL:1000893 "KUPO:0001031" MONDO:0022602 "GARD:0000974" MONDO:0022603 "GARD:0000977" -MONDO:0013580 "Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia." "MESH:C566729 UMLS:C3279841 ICD10:E74.4 OMIM:614111 Orphanet:255138 Orphanet:765" +MONDO:0013580 "Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia." "MESH:C566729 UMLS:C3279841 OMIM:614111 ICD10CM:E74.4 Orphanet:255138 Orphanet:765" UBERON:0001351 -MONDO:0002124 "ICD9:375.14 DOID:1822 SCTID:75068001 ICD10:H04.15" +MONDO:0002124 "ICD9:375.14 DOID:1822 SCTID:75068001" http://identifiers.org/hgnc/1983 CL:0000351 "A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface." "FMA:83028" MONDO:0004783 @@ -19454,36 +19445,36 @@ MONDO:0003645 "A cavernous hemangioma arising from the face." "UMLS:C1332863 HP: MONDO:0003035 "A malignant vascular neoplasm arising from the ovary." "UMLS:C1335152 NCIT:C5232 DOID:4527" GO:0051656 "The directed movement of an organelle to a specific location." MONDO:0020202 "UMLS:C0339186 Orphanet:98614 ICD9:372.89 SCTID:231871007" -MONDO:0018015 "SCTID:711286009 ICD10:M12.4 Orphanet:329967 UMLS:C0149910" +MONDO:0018015 "SCTID:711286009 ICD10CM:M12.4 Orphanet:329967 UMLS:C0149910" http://identifiers.org/hgnc/1987 GO:1905954 "Any process that activates or increases the frequency, rate or extent of lipid localization." -MONDO:0004638 "An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes." "ICD10:C85.9 ICD9:200.10 NCIT:C27824 SCTID:188498009 GARD:0006946 UMLS:C0024305 NCIT:C26919 NCIT:C3211 ICD9:200.0 SCTID:373168002 SCTID:118601006 ICD10:C85.0 DOID:8675 MESH:D008228 ICD9:200.7 ICD9:200.1" +MONDO:0004638 "An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes." "ICD9:200.10 NCIT:C27824 SCTID:188498009 GARD:0006946 UMLS:C0024305 NCIT:C26919 NCIT:C3211 ICD9:200.0 SCTID:373168002 SCTID:118601006 DOID:8675 MESH:D008228 ICD9:200.7 ICD9:200.1" MONDO:0008481 "OMIM:184300 UMLS:C1384641 SCTID:387800004" UBERON:0000153 MONDO:0011503 "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency." "OMIM:604931 DOID:0090141 UMLS:C3551716 NCIT:C131849 Orphanet:168588" -MONDO:0008796 "Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974." "Orphanet:1064 SCTID:733116005 OMIM:206750 GARD:0000690 ICD10:Q87.8 MESH:C000598722 UMLS:C1859782" -MONDO:0017916 "Orphanet:320350 ICD10:G11.4" -MONDO:0019216 "ICD10:E72.0 ICD9:270.0 UMLS:C0268641 SCTID:16784003 Orphanet:79166" -MONDO:0019603 "Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked." "UMLS:CN206455 SCTID:722111004 Orphanet:91133 ICD10:Q87.5" +MONDO:0008796 "Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974." "Orphanet:1064 ICD10CM:Q87.8 SCTID:733116005 OMIM:206750 GARD:0000690 MESH:C000598722 UMLS:C1859782" +MONDO:0017916 "Orphanet:320350 ICD10CM:G11.4" +MONDO:0019216 "ICD9:270.0 UMLS:C0268641 SCTID:16784003 Orphanet:79166" +MONDO:0019603 "Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked." "UMLS:CN206455 SCTID:722111004 Orphanet:91133 ICD10CM:Q87.5" GO:1904689 "Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational initiation." MONDO:0000826 MONDO:0020476 "Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits." "Orphanet:99701" -MONDO:0016473 "A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma." "UMLS:CN201468 ICD10:C49.9 NCIT:C93268 UMLS:C2985524 Orphanet:231108 OMIM:609322 OMIMPS:609322 OMIM:613325" +MONDO:0016473 "A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma." "ICD10CM:C49.9 UMLS:CN201468 NCIT:C93268 UMLS:C2985524 Orphanet:231108 OMIM:609322 OMIMPS:609322 OMIM:613325" MONDO:0003723 "Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia." "DOID:5996 UMLS:C1332573 NCIT:C6941" -MONDO:0012392 "A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported." "OMIM:610006 NCIT:C98863 ICD10:E71.1 GARD:0010322 Orphanet:79157 MESH:C566487 UMLS:C1864912" +MONDO:0012392 "A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported." "OMIM:610006 NCIT:C98863 GARD:0010322 ICD10CM:E71.1 Orphanet:79157 MESH:C566487 UMLS:C1864912" GO:0033273 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus." -MONDO:0011965 "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3." "OMIM:611631 Orphanet:98819 ICD10:G40.2 DOID:0060755 MESH:C536956 OMIM:608096 GARD:0005135" +MONDO:0011965 "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3." "OMIM:611631 Orphanet:98819 DOID:0060755 ICD10CM:G40.2 MESH:C536956 OMIM:608096 GARD:0005135" MONDO:0020203 "Orphanet:98615" MONDO:0022866 "GARD:0001530" MONDO:0001189 CL:0000541 "A cell that originates from the neural crest and differentiates into a pigment cell." "BTO:0003217 FMA:83377" UBERON:0018227 -MONDO:0002457 "Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." "Orphanet:861 MedDRA:10051456 SCTID:62767009 NCIT:C75018 OMIM:154500 ICD10:Q75.4 OMIM:613717 OMIMPS:154500 UMLS:C0265241 MESH:D008342 DOID:2908 OMIM:248390 GARD:0009124" +MONDO:0002457 "Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." "Orphanet:861 MedDRA:10051456 SCTID:62767009 NCIT:C75018 OMIM:154500 OMIM:613717 OMIMPS:154500 UMLS:C0265241 MESH:D008342 DOID:2908 OMIM:248390 GARD:0009124 ICD10CM:Q75.4" MONDO:0006083 GO:0007398 "The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation." CL:1000891 "KUPO:0001029" GO:0070626 "Catalysis of the reaction: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide." -MONDO:0008585 "A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems." "ICD10:O14.2 Orphanet:244242 DOID:13133 OMIM:189800 UMLS:C0162739 EFO:0007297 MedDRA:10049058 GARD:0008528 NCIT:C84750 MESH:D017359 Orphanet:275555" +MONDO:0008585 "A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems." "Orphanet:244242 DOID:13133 OMIM:189800 UMLS:C0162739 EFO:0007297 MedDRA:10049058 GARD:0008528 NCIT:C84750 MESH:D017359 Orphanet:275555" http://identifiers.org/hgnc/2084 MONDO:0025389 "A disease of cattle caused by bacteria of the genus brucella leading to abortion in late pregnancy. brucella abortus is the primary infective agent." "MESH:D002007" UBERON:0000154 @@ -19496,21 +19487,21 @@ GO:0045938 "Any process that activates or increases the duration or quality of s http://identifiers.org/hgnc/232 MONDO:0000825 http://identifiers.org/hgnc/1985 -MONDO:0009138 "Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." "Orphanet:1782 ICD10:Q78.8 UMLS:C0432262 SCTID:254123002 MESH:C562973 ICD9:756.9 OMIM:224300 GARD:0002012" +MONDO:0009138 "Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." "Orphanet:1782 UMLS:C0432262 SCTID:254123002 MESH:C562973 ICD10CM:Q78.8 ICD9:756.9 OMIM:224300 GARD:0002012" UBERON:0001353 MONDO:0005511 "Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency." "Wikipedia:Janus_kinase_3_deficiency EFO:0005565 DOID:0060008" MONDO:0002365 "A hemangiopericytoma arising from the kidney." "DOID:262 NCIT:C4527 UMLS:C0346256 SCTID:254923001" MONDO:0007264 "An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms." "SCTID:95281009 NCIT:C78245 OMIM:115080 EFO:0004278 NCIT:C50911 Orphanet:871" CL:0000030 "FBbt:00005145" -MONDO:0018184 "Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma." "ICD10:C16.9 UMLS:CN204677 Orphanet:36273 SCTID:721629005" -MONDO:0013668 "Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations." "ICD9:758.89 GARD:0000035 SCTID:698849002 OMIM:614290 UMLS:C0795868 MESH:C538306 Orphanet:3307 ICD10:Q99.8" +MONDO:0018184 "Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma." "UMLS:CN204677 Orphanet:36273 SCTID:721629005 ICD10CM:C16.9" +MONDO:0013668 "Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations." "ICD9:758.89 GARD:0000035 SCTID:698849002 OMIM:614290 UMLS:C0795868 MESH:C538306 Orphanet:3307 ICD10CM:Q99.8" GO:0045276 "A part of the respiratory chain located in the plasma membrane, containing about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1. Examples of this component are found in bacterial species." NCBITaxon:28211 "PMID:11837318 PMID:11541974 PMID:16166687 GC_ID:11 PMID:19060069 PMID:16403855" -MONDO:0001476 "An abnormality in which a part of a structure in one or both eyes is missing." "OMIM:120200 ICD9:743.49 ICD10:Q13.0 Orphanet:98945 SCTID:93390002 OMIM:120300 DOID:12270 Orphanet:194 MESH:D003103 OMIM:216820 NCIT:C98877" +MONDO:0001476 "An abnormality in which a part of a structure in one or both eyes is missing." "OMIM:120200 ICD9:743.49 Orphanet:98945 SCTID:93390002 OMIM:120300 DOID:12270 Orphanet:194 MESH:D003103 OMIM:216820 NCIT:C98877" MONDO:0012480 "Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene." "SCTID:609580007 MESH:C563672 UMLS:C1835887 OMIM:610374 Orphanet:99886" -MONDO:0024379 "A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day." "SCTID:271793004 ICD10:G47.23 ICD9:327.33 UMLS:C0393771" +MONDO:0024379 "A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day." "SCTID:271793004 ICD10CM:G47.23 ICD9:327.33 UMLS:C0393771" MONDO:0002287 "A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells." "SCTID:72815004 UMLS:C0268837 NCIT:C39860 ICD9:595.89 DOID:2392" -MONDO:0015306 "Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis." "SCTID:52542005 ICD10:I80.8 ICD9:040.3 Orphanet:137839 MedDRA:10065552 DOID:11337 GARD:0006882 MESH:D057831" +MONDO:0015306 "Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis." "SCTID:52542005 ICD9:040.3 Orphanet:137839 ICD10CM:I80.8 MedDRA:10065552 DOID:11337 GARD:0006882 MESH:D057831" MONDO:0025271 "Infection in cattle caused by various species of trypanosomes." "UMLS:C0041230 MESH:D014354" PCO:0000018 "A material entity that has as parts two or more organisms, viruses, or viroids of the same species and no members of any other species."@en http://identifiers.org/hgnc/21316 @@ -19519,36 +19510,36 @@ MONDO:0005203 "Adverse functional, metabolic, or structural changes in ischemic MONDO:0011607 "Orphanet:2073 OMIM:605841 UMLS:C1853901" http://identifiers.org/hgnc/18150 http://identifiers.org/hgnc/497 -MONDO:0017285 "Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases)." "ICD10:Q55.8 GARD:0004273 MESH:C536650 Orphanet:2842 MedDRA:10067287 SCTID:312005008 UMLS:C1868854 NCIT:C99010 HP:0100600" +MONDO:0017285 "Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases)." "GARD:0004273 MESH:C536650 Orphanet:2842 ICD10CM:Q55.8 MedDRA:10067287 SCTID:312005008 UMLS:C1868854 NCIT:C99010 HP:0100600" MONDO:0021488 "A benign neoplasm that involves the lacrimal gland." "SCTID:92169007 NCIT:C3621 UMLS:C0154024 ICD9:224.2" HP:0001920 "The presence of stenosis of the renal artery." "SNOMEDCT_US:302233006 SNOMEDCT_US:282664001 MSH:D012078 Fyler:2634 UMLS:C0035067" MONDO:0005727 MONDO:0009684 "MESH:C564982 UMLS:C1850827 OMIM:254120" GO:0099500 "Fusion of the membrane of a vesicle with the plasma membrane, thereby releasing its contents into the extracellular space." MONDO:0008220 "OMIM:169710" -MONDO:0007798 "OBSOLETE. Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies." "Orphanet:247685 SCTID:20756002 UMLS:C0268413 ICD10:E83.3 DOID:0110913 Orphanet:247676 UMLS:C1840322 Orphanet:436 OMIM:146300" -MONDO:0008403 "Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A." "OMIM:181250 Orphanet:1003 ICD10:Q87.2 MESH:C536622 UMLS:C1867021 GARD:0000241" -MONDO:0001824 "A disease or disorder affecting more than one nerve." "ICD9:356.9 ICD10:A69.22 DOID:1389 ICD10:G62.9 ICD9:357.4 SCTID:42345000 UMLS:C0152025 MESH:D011115 NCIT:C26951" +MONDO:0007798 "OBSOLETE. Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies." "Orphanet:247685 SCTID:20756002 UMLS:C0268413 ICD10CM:E83.3 DOID:0110913 Orphanet:247676 UMLS:C1840322 Orphanet:436 OMIM:146300" +MONDO:0008403 "Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A." "OMIM:181250 ICD10CM:Q87.2 Orphanet:1003 MESH:C536622 UMLS:C1867021 GARD:0000241" +MONDO:0001824 "A disease or disorder affecting more than one nerve." "ICD9:356.9 DOID:1389 ICD10CM:G60-G65 ICD9:357.4 SCTID:42345000 UMLS:C0152025 MESH:D011115 NCIT:C26951" MONDO:0011606 "MESH:C565282 GARD:0009289 OMIM:605838 MESH:C537794 UMLS:C1853911" MONDO:0003053 "A meningioma that affects the choroid plexus." "UMLS:C0431118 DOID:4584 NCIT:C4719" -MONDO:0014375 "Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema." "OMIM:615863 Orphanet:329242 ICD10:P78.3 UMLS:C4014516 DOID:0060778" +MONDO:0014375 "Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema." "OMIM:615863 Orphanet:329242 ICD10CM:P78.3 UMLS:C4014516 DOID:0060778" MONDO:0100389 "Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)" "NCIT:C36396 NCIT:C162775" MONDO:0006506 "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase." "UMLS:C0002882 OMIM:206400 SCTID:301317008 OMIM:206300 MESH:D000746 OMIM:613470 EFO:1000641 OMIM:300908 DOID:2861 ICD9:282.3 Orphanet:712" http://identifiers.org/hgnc/496 MONDO:0006430 "A mantle cell lymphoma occurring in the spleen." "UMLS:C2018777 NCIT:C7306 EFO:1000549" MONDO:0011422 "Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." "Orphanet:93607 MESH:C567038 OMIM:604278 UMLS:C1970309 Orphanet:47159" -MONDO:0017169 "Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs." "ICDO:8360/1 MedDRA:10061299 UMLS:C0027662 OMIMPS:131100 Orphanet:276161 ICD10:D44.8 NCIT:C6432 ICD9:258.0 SCTID:46724008" +MONDO:0017169 "Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs." "ICD10CM:D44.8 ICDO:8360/1 MedDRA:10061299 UMLS:C0027662 OMIMPS:131100 Orphanet:276161 NCIT:C6432 ICD9:258.0 SCTID:46724008" HP:0009122 "Absence (due to failure to form) or underdevelopment of bones of the axial skeleton." "UMLS:C4024585" MONDO:0012806 "UMLS:C2677481 OMIM:612132 MESH:C567411 Orphanet:98813 Orphanet:238468" MONDO:0044675 "Orphanet:498481" -MONDO:0010559 "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles." "GARD:0006986 Orphanet:2466 OMIM:303350 SCTID:716996008 DOID:0060246 UMLS:C0795953 ICD10:G11.4 NCIT:C129930 Orphanet:275543" +MONDO:0010559 "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles." "GARD:0006986 Orphanet:2466 OMIM:303350 SCTID:716996008 DOID:0060246 ICD10CM:G11.4 UMLS:C0795953 NCIT:C129930 Orphanet:275543" GO:0070257 "Any process that activates or increases the frequency, rate or extent of the regulated release of mucus from a cell or a tissue." MONDO:0007026 MONDO:0014368 "OMIM:615848 Orphanet:618" UBERON:0016928 CHEBI:36527 -MONDO:0016652 "2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." "SCTID:716387004 Orphanet:251014 UMLS:CN201880 ICD10:Q93.5 UMLS:C4274647" -MONDO:0008513 "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene." "OMIM:186000 UMLS:CN203278 ICD10:Q70.0 Orphanet:93403 Orphanet:295195 ICD10:Q70.2" +MONDO:0016652 "2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects." "SCTID:716387004 Orphanet:251014 UMLS:CN201880 ICD10CM:Q93.5 UMLS:C4274647" +MONDO:0008513 "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene." "OMIM:186000 UMLS:CN203278 Orphanet:93403 Orphanet:295195" HP:0032180 "An abnormal level of an analyte measured in the blood." MONDO:0001841 "A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters." "NCIT:C40164 DOID:13951 UMLS:C1519850" UBERON:0001350 @@ -19557,16 +19548,16 @@ MONDO:0004370 "A meningioma that affects the sphenocavernous region." "DOID:7820 MONDO:0014578 "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene." "OMIM:616304 UMLS:C4225377 Orphanet:590 DOID:0110674" http://identifiers.org/hgnc/24912 ENVO:01001646 "A solid material which does not have a regularly organised internal structure." -MONDO:0008381 "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life." "UMLS:C1867261 MESH:C566713 OMIM:180210 Orphanet:791 DOID:0110420 ICD10:H35.5" +MONDO:0008381 "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life." "UMLS:C1867261 MESH:C566713 OMIM:180210 Orphanet:791 DOID:0110420" GO:0004332 "Catalysis of the reaction: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde-3-phosphate." GO:0045666 "Any process that activates or increases the frequency, rate or extent of neuron differentiation." -MONDO:0000455 "An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision." "GARD:0011897 Orphanet:1871 ICD9:362.75 OMIM:304030 OMIM:602093 DOID:0050795 OMIM:300085 ICD10:H35.5 UMLS:C0730290 OMIM:180020 SCTID:312917007 OMIM:613093" +MONDO:0000455 "An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision." "GARD:0011897 Orphanet:1871 ICD9:362.75 ICD10CM:H35.5 OMIM:304030 OMIM:602093 DOID:0050795 OMIM:300085 UMLS:C0730290 OMIM:180020 SCTID:312917007 OMIM:613093" NCBITaxon:42414 "GC_ID:1" GO:0004619 "Catalysis of the reaction: 2-phospho-D-glycerate = 3-phospho-D-glycerate." -MONDO:0016380 "Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary." "GARD:0002864 SCTID:25967007 ICD10:L68.1 Orphanet:2221 UMLS:CN201274" -MONDO:0015661 "A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects." "NCIT:C84669 Orphanet:1666 DOID:9565 MedDRA:10012592 ICD9:746.87 MESH:D003914 HP:0001651 ICD10:Q24.0 SCTID:27637000 GARD:0001827" +MONDO:0016380 "Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary." "GARD:0002864 SCTID:25967007 Orphanet:2221 ICD10CM:L68.1 UMLS:CN201274" +MONDO:0015661 "A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects." "NCIT:C84669 Orphanet:1666 DOID:9565 MedDRA:10012592 ICD9:746.87 MESH:D003914 HP:0001651 SCTID:27637000 GARD:0001827" http://identifiers.org/hgnc/18153 -MONDO:0004187 "A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." "UMLS:C0410005 NCIT:C3827 DOID:7327 Orphanet:477742 ICD10:M72.4 ICD9:728.79 SCTID:400138001" +MONDO:0004187 "A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." "UMLS:C0410005 ICD10CM:M72.4 NCIT:C3827 DOID:7327 Orphanet:477742 ICD9:728.79 SCTID:400138001" http://identifiers.org/hgnc/21317 MONDO:0020005 "OBSOLETE. Rare endocrine system disease." "UMLS:CN206938 Orphanet:97978" http://identifiers.org/hgnc/5414 @@ -19581,7 +19572,7 @@ NCBITaxon:39030 "GC_ID:1" NCBITaxon:42415 "GC_ID:1" MONDO:0011088 "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene." "Orphanet:590 DOID:0110663 OMIM:601462 Orphanet:98913" MONDO:0021072 "A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension." "MESH:C531777 NCIT:C4216 SCTID:399343007 ICDO:8681/1" -MONDO:0005541 "A defect in the pars interarticularis of a vertebral bone." "ICD10:M43.0 EFO:0005649 SCTID:240221008 NCIT:C35034 DOID:2300 SCTID_2010_1_31:240221008 ICD10:M43.00 UMLS:C0038018 HP:0003304 MESH:D013169" +MONDO:0005541 "A defect in the pars interarticularis of a vertebral bone." "EFO:0005649 NCIT:C35034 SCTID:240221008 DOID:2300 UMLS:C0038018 HP:0003304 MESH:D013169" MONDO:0016755 "An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors." "GARD:0007191 ICDO:9540/0 ICD9:215.9 MedDRA:10029267 EFO:0000622 DOID:962 MESH:D009455 UMLS:C0027830 NCIT:C3272 SCTID:404029005 Orphanet:252183 ONCOTREE:NFIB" MONDO:0013669 "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene." "OMIM:614291 Orphanet:145" GO:0016054 "The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage." @@ -19590,18 +19581,18 @@ MONDO:0006357 "A carcinoma that arises from a pleomorphic adenoma in the parotid MONDO:0008225 "NCIT:C122791 UMLS:C0268445 SCTID:40381009 GARD:0004009 Orphanet:680 OMIM:170600" GO:0044763 HP:0003125 "Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." "UMLS:C4025649 UMLS:C3494187 MSH:D006467 SNOMEDCT_US:234440005" -MONDO:0013922 "Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated." "OMIM:614851 DOID:0070011 UMLS:C3553870 ICD10:Q87.1 Orphanet:319675" +MONDO:0013922 "Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated." "ICD10CM:Q87.1 OMIM:614851 DOID:0070011 UMLS:C3553870 Orphanet:319675" MONDO:0009423 "SCTID:81987005 UMLS:C0268444 OMIM:241150 MESH:C562654" http://identifiers.org/hgnc/493 -MONDO:0018523 "A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass." "ICD10:C25.2 DOID:7235 DOID:7735 ICD10:C25.8 Orphanet:424053 ICD10:C25.0 ICD10:C25.7 ICD10:C25.1 NCIT:C5718" +MONDO:0018523 "A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass." "DOID:7235 DOID:7735 Orphanet:424053 NCIT:C5718" MONDO:0000448 "A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases." "ICDO:8680/1 OMIM:605373 OMIM:601650 OMIM:614165 UMLS:C0030421 ONCOTREE:PGNG DOID:0050773 ICD9:239.7 OMIM:115310 NCIT:C3308 SCTID:127027008 OMIMPS:168000 EFO:1000453 MESH:D010235 OMIM:168000" -MONDO:0019402 "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." "ICD9:282.49 Orphanet:848 NCIT:C34375 ICD9:282.44 OMIM:613985 OMIM:603902 SCTID:65959000 MESH:D017086 MedDRA:10043391 ICD10:D56.1 OMIM:187550 DOID:12241 GARD:0000871" -MONDO:0015595 "Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated." "Orphanet:163921 ICD10:A86" +MONDO:0019402 "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." "ICD9:282.49 Orphanet:848 NCIT:C34375 ICD9:282.44 OMIM:613985 OMIM:603902 SCTID:65959000 MESH:D017086 MedDRA:10043391 OMIM:187550 DOID:12241 GARD:0000871" +MONDO:0015595 "Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated." "Orphanet:163921 ICD10CM:A86" MONDO:0003200 "A carcinoma that arises from glandular epithelial cells of the urethra" "NCIT:C6167 ONCOTREE:UAD DOID:4910 UMLS:C1336885" MONDO:0006599 "A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously." "SCTID:402601007 EFO:1000754 DOID:0060220" NCBITaxon:28216 "PMID:28581923 GC_ID:11 PMID:16403855" http://identifiers.org/hgnc/6610 -MONDO:0012203 "Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." "Orphanet:424 MESH:C563786 OMIM:609152 ICD10:E05.8 GARD:0002858 UMLS:C1836706" +MONDO:0012203 "Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history." "Orphanet:424 MESH:C563786 OMIM:609152 GARD:0002858 UMLS:C1836706 ICD10CM:E05.8" MONDO:0011213 "Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear." "Orphanet:487825 MESH:C566559 OMIM:602342 UMLS:C1865644" MONDO:0006757 "Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver." "MedDRA:10008637 UMLS:C0005398 MESH:D001651 DOID:13619 EFO:1000933 SCTID:8262006 NCIT:C34420" MONDO:0009422 "UMLS:C1855856 OMIM:241120 MESH:C565481" @@ -19609,7 +19600,7 @@ MONDO:0014891 "Any familial juvenile hyperuricemic nephropathy in which the caus http://identifiers.org/hgnc/492 MONDO:0021580 "A neoplasm (disease) that involves the jaw skeleton." "ICD9:239.89 SCTID:126634001" MONDO:0005726 -MONDO:0015260 "Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells)." "MESH:D004169 SCTID:187151009 UMLS:C0012561 DOID:10075 MedDRA:10013029 Orphanet:128 GARD:0000942 ICD10:B70.0 NCIT:C128391 ICD9:123.4 EFO:0007238" +MONDO:0015260 "Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells)." "MESH:D004169 SCTID:187151009 UMLS:C0012561 DOID:10075 MedDRA:10013029 Orphanet:128 ICD10CM:B70.0 GARD:0000942 NCIT:C128391 ICD9:123.4 EFO:0007238" BFO:0000002 "An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts." BFO:0000002 "An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts."@en MONDO:0009687 "OMIM:254190 MESH:C564979 UMLS:C1850806 Orphanet:590" @@ -19622,9 +19613,9 @@ GO:0046889 "Any process that activates or increases the frequency, rate or exten MONDO:0011865 "OBSOLETE. A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34." GO:0009584 "The series of events in which a visible light stimulus is received by a cell and converted into a molecular signal. A visible light stimulus is electromagnetic radiation that can be perceived visually by an organism; for organisms lacking a visual system, this can be defined as light with a wavelength within the range 380 to 780 nm." MONDO:0008489 "OMIM:184800" -MONDO:0010550 "X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals." "DOID:0110208 GARD:0001243 MESH:C535302 SCTID:763457000 OMIM:302801 Orphanet:101076 ICD10:G60.0 UMLS:C1844873" -MONDO:0012745 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene." "ICD10:I42.0 DOID:0110434 Orphanet:154 OMIM:611879 UMLS:C2678475 MESH:C567506" -MONDO:0018486 "Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow." "Orphanet:420556 GARD:0012062 ICD10:H53.8 UMLS:CN237477" +MONDO:0010550 "X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals." "DOID:0110208 GARD:0001243 ICD10CM:G60.0 MESH:C535302 SCTID:763457000 OMIM:302801 Orphanet:101076 UMLS:C1844873" +MONDO:0012745 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene." "ICD10CM:I42.0 DOID:0110434 Orphanet:154 OMIM:611879 UMLS:C2678475 MESH:C567506" +MONDO:0018486 "Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow." "ICD10CM:H53.8 Orphanet:420556 GARD:0012062 UMLS:CN237477" CL:0000526 "A neuron which conveys sensory information centrally from the periphery." "FMA:87653" PATO:0001407 "A nucleate quality inhering in a bearer by virtue of the bearer's having one nucleus." MONDO:0009421 "SCTID:48723006 ICD9:257.2 OMIM:241100" @@ -19632,44 +19623,45 @@ ENVO:00002010 "Water which contains a significant concentration of dissolved sal http://identifiers.org/hgnc/491 UBERON:0011191 MONDO:0009686 "UMLS:C1850807 MESH:C564980 OMIM:254150" -MONDO:0020461 "SCTID:253212001 ICD10:Q10.3 ICD9:743.63 Orphanet:99169" +MONDO:0020461 "ICD10CM:Q10.3 SCTID:253212001 ICD9:743.63 Orphanet:99169" MONDO:0021929 "Myositis Ossificans resulting from trauma." "UMLS:C0040798 NCIT:C35081 ICD9:728.12 SCTID:70917000" -MONDO:0011540 "Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." "Orphanet:98763 GARD:0009867 UMLS:C1854369 MESH:C537196 OMIM:605361 ICD10:G11.2 SCTID:719210007 UMLS:C4304883 DOID:0050964" -MONDO:0019000 "Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy." "ICD10:G54.8 Orphanet:65250 GARD:0009258 EFO:1001858 MESH:D052958 SCTID:81634008" +MONDO:0011540 "Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." "Orphanet:98763 GARD:0009867 UMLS:C1854369 MESH:C537196 OMIM:605361 SCTID:719210007 UMLS:C4304883 DOID:0050964 ICD10CM:G11.2" +MONDO:0019000 "Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy." "Orphanet:65250 GARD:0009258 ICD10CM:G54.8 EFO:1001858 MESH:D052958 SCTID:81634008" CL:0000459 "A cell capable of producting norepiniphrine. Norepiniphrine is a catecholamine with multiple roles including as a hormone and a neurotransmitter. In addition, epiniphrine is synthesized from norepiniphrine by the actions of the phenylethanolamine N-methyltransferase enzyme." -MONDO:0006586 "A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin." "UMLS:C1274184 Wikipedia:Neurotic_excoriations DOID:9165 EFO:1000741 ICD9:300.19 SCTID:402736003 ICD10:L98.1 ICD9:698.4" -MONDO:0004716 "A in situ carcinoma that involves the stomach." "NCIT:C7788 UMLS:C0154060 ICD10:D00.2 SCTID:92756002 DOID:9138 ICD9:230.2" +MONDO:0006586 "A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin." "UMLS:C1274184 Wikipedia:Neurotic_excoriations DOID:9165 EFO:1000741 ICD9:300.19 SCTID:402736003 ICD9:698.4" +MONDO:0004716 "A in situ carcinoma that involves the stomach." "ICD10CM:D00.2 UMLS:C0154060 DOID:9138 SCTID:92756002 ICD9:230.2 NCIT:C7788" MONDO:0014690 "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1." "Orphanet:397692 OMIM:616553 UMLS:C4225284 Orphanet:3322 DOID:0070023" -MONDO:0016763 "Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life." "ICD10:Q77.8 Orphanet:254 OMIMPS:184255" +MONDO:0016763 "Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life." "Orphanet:254 ICD10CM:Q77.8 OMIMPS:184255" HP:0000726 "A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior." "UMLS:C0497327 SNOMEDCT_US:52448006 MSH:D003704" CHR:9606-chr20p12 MONDO:0021659 "A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells." "GARD:0005741 ICDO:8244/3 NCIT:C4139 ICDO:8245/3 UMLS:C0334302 MESH:C538230" HP:0010974 "An abnormality of myeloid leukocytes." "UMLS:C4023618" +MONDO:0016963 UBERON:0009842 CHEBI:22718 "A monocarboxylic acid anion obtained by deprotonation of the carboxy group of any benzoic acid." MONDO:0036870 "A benign or malignant neoplasm arising from the lymphatic vessels." "UMLS:C0206619 NCIT:C3723" -MONDO:0015268 "Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics." "MESH:D007691 UMLS:C0022681 GARD:0000232 NCIT:C34751 MedDRA:10027104 ICD9:753.17 ICD10:Q61.5 Orphanet:1309 SCTID:236443009 OMIM:174000" +MONDO:0015268 "Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics." "MESH:D007691 ICD10CM:Q61.5 UMLS:C0022681 GARD:0000232 NCIT:C34751 MedDRA:10027104 ICD9:753.17 Orphanet:1309 SCTID:236443009 OMIM:174000" NCBITaxon:42407 "GC_ID:1" http://identifiers.org/hgnc/15672 UBERON:0035165 ECTO:4000000 "A exposure event involving the interaction of an exposure receptor to deviation (from_normal) of quality." -MONDO:0014382 "ICD10:Q87.3 OMIM:615879 SCTID:768843007 UMLS:C4014545 Orphanet:404443" -MONDO:0017061 "ICD10:Q00.2 SCTID:203927003 Orphanet:268366" +MONDO:0014382 "OMIM:615879 SCTID:768843007 UMLS:C4014545 Orphanet:404443 ICD10CM:Q87.3" +MONDO:0017061 "SCTID:203927003 Orphanet:268366 ICD10CM:Q00.2" MONDO:0011622 "OMIM:605990" -MONDO:0007698 "Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." "SCTID:702425002 GARD:0002594 MedDRA:10072361 ICD10:Q51.2 DOID:0060739 UMLS:C1841679 ICD9:759.89 OMIM:140000 MESH:C535627 Orphanet:2438" +MONDO:0007698 "Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." "SCTID:702425002 ICD10CM:Q51.2 GARD:0002594 MedDRA:10072361 DOID:0060739 UMLS:C1841679 ICD9:759.89 OMIM:140000 MESH:C535627 Orphanet:2438" NCBITaxon:452563 "GC_ID:1 PMID:17486979" -MONDO:0009265 "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." "DOID:0110957 ICD10:E75.2 Orphanet:77259 OMIM:230800 Orphanet:355 GARD:0002441" -MONDO:0015765 "ICD10:G71.2 Orphanet:172976" +MONDO:0009265 "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." "DOID:0110957 ICD10CM:E75.2 Orphanet:77259 OMIM:230800 Orphanet:355 GARD:0002441" +MONDO:0015765 "ICD10CM:G71.2 Orphanet:172976" UBERON:0036362 NCBITaxon:169495 "GC_ID:1" NCBITaxon:299467 "GC_ID:1" -MONDO:0013314 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene." "UMLS:C3150819 OMIM:613581 DOID:0110371 ICD10:H35.5 Orphanet:791" +MONDO:0013314 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene." "UMLS:C3150819 OMIM:613581 DOID:0110371 Orphanet:791" MONDO:0033637 "OMIM:619051" UBERON:0012139 MONDO:0010424 "MESH:C567461 Orphanet:264675 UMLS:C2677877 OMIM:300770" -MONDO:0005374 "Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow)." "SCTID:414824005 SCTID:425333006 ICD9:238.79 UMLS:C0282609 NCIT:C35370 ICD10:D47.1 MESH:D019046 DOID:4960" +MONDO:0005374 "Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow)." "SCTID:414824005 SCTID:425333006 ICD9:238.79 UMLS:C0282609 NCIT:C35370 MESH:D019046 DOID:4960" MONDO:0029042 "DOID:0111145" -MONDO:0011979 "Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." "Orphanet:99000 SCTID:232049001 OMIM:608161 OMIM:153840 OMIM:616152 OMIM:616151 ICD10:H35.5 GARD:0010909 UMLS:C1842914" +MONDO:0011979 "Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." "Orphanet:99000 SCTID:232049001 ICD10CM:H35.5 OMIM:608161 OMIM:153840 OMIM:616152 OMIM:616151 GARD:0010909 UMLS:C1842914" NCBITaxon:42408 "GC_ID:1" MONDO:0013565 "Fanconi anemia caused by mutations of the FANCG gene." "EFO:0009046 NCIT:C125708 DOID:0111086 OMIM:614082" http://identifiers.org/hgnc/11714 @@ -19677,21 +19669,21 @@ MONDO:0033635 "OMIM:619046" UBERON:0009843 MONDO:0014308 "A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26." "Orphanet:163717 DOID:0060749 UMLS:C3810320 OMIM:615697" NCBITaxon:34384 "GC_ID:1" -MONDO:0016962 "GARD:0001923 Orphanet:262923" -MONDO:0017062 "SCTID:58557008 ICD10:Q05.3 ICD10:Q05.9 ICD10:Q05.1 ICD10:Q05.8 ICD10:Q05.5 ICD10:Q05.2 Orphanet:268369 ICD10:Q05.0 ICD10:Q05.4 ICD10:Q05.6 ICD10:Q05.7 UMLS:CN202421" +MONDO:0016962 +MONDO:0017062 "SCTID:58557008 ICD10CM:Q05.4 ICD10CM:Q05.8 ICD10CM:Q05.6 Orphanet:268369 ICD10CM:Q05.5 ICD10CM:Q05.9 ICD10CM:Q05.0 ICD10CM:Q05.7 ICD10CM:Q05.2 ICD10CM:Q05.1 ICD10CM:Q05.3 UMLS:CN202421" MONDO:0011887 "MESH:C564353 UMLS:C1843257 OMIM:607674" -MONDO:0004591 "An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy." "ICD9:694.3 SCTID:65539006 UMLS:C1314968 EFO:1000715 ICD10:L40.1 DOID:8503" -MONDO:0010556 "X-linked form of chondrodysplasia punctata." "OMIM:302960 ICD10:Q77.3 OMIM:302950 UMLS:C0263627 DOID:0060292" +MONDO:0004591 "An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy." "ICD9:694.3 SCTID:65539006 UMLS:C1314968 EFO:1000715 DOID:8503" +MONDO:0010556 "X-linked form of chondrodysplasia punctata." "OMIM:302960 ICD10CM:Q77.3 OMIM:302950 UMLS:C0263627 DOID:0060292" http://identifiers.org/hgnc/1706 MONDO:0044680 http://identifiers.org/hgnc/3003 MONDO:0001028 "An acute inflammatory process that affects the tissues that surround and support the teeth." "ICD9:523.3 DOID:10423 SCTID:21638000 NCIT:C34354 UMLS:C0001342 ICD9:523.33" GO:0061024 "A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins." -MONDO:0008935 "Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome." "OMIM:605672 DOID:0111587 GARD:0003314 Orphanet:1173 UMLS:C1859305 OMIM:212840 MESH:C565870 ICD10:G11.8" -MONDO:0020572 "Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area." "UMLS:C0007462 MedDRA:10007825 NCIT:C121572 MedDRA:10064335 SCTID:408751001 ICD10:G56.4 Orphanet:99994 DOID:3222 EFO:1000854 MESH:D002422" +MONDO:0008935 "Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome." "OMIM:605672 DOID:0111587 GARD:0003314 Orphanet:1173 UMLS:C1859305 OMIM:212840 MESH:C565870 ICD10CM:G11.8" +MONDO:0020572 "Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area." "UMLS:C0007462 MedDRA:10007825 NCIT:C121572 MedDRA:10064335 SCTID:408751001 Orphanet:99994 DOID:3222 EFO:1000854 MESH:D002422" MONDO:0033636 "OMIM:619048" MONDO:0021856 "An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion." "UMLS:C2931255 GARD:0009213 MESH:C536588" -MONDO:0018260 "ICD10:Q84.8 Orphanet:370052" +MONDO:0018260 "Orphanet:370052 ICD10CM:Q84.8" MONDO:0009438 "Orphanet:94088 OMIM:242050 MESH:C565475 UMLS:C1855793" MONDO:0010423 "OMIM:300758 MESH:C567462 UMLS:C2677879 Orphanet:440" MONDO:0002710 "An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue." "DOID:3615 UMLS:C1305256 NCIT:C7449" @@ -19700,18 +19692,17 @@ MONDO:0009274 "Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disor MONDO:0008239 "OMIM:172110" MONDO:0013763 "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene." "OMIM:614464 UMLS:C3280897 Orphanet:475 Orphanet:220493 DOID:0110984" CL:0002153 "The dead keratin-filled squamous cell of the stratum corneum. This cell type lacks a nucleus." "BTO:0001943 FMA:68650" -http://identifiers.org/hgnc/12910 UBERON:0006247 MONDO:0012821 "OMIM:612230" MONDO:0033639 "OMIM:619053" UBERON:0014532 -MONDO:0004983 "Complete absence of spermatozoa in the semen." "ICD9:606.0 MESH:D053713 OMIMPS:258150 OMIM:108420 EFO:0000279 ICD10:N46.01 UMLS:C0004509 OMIM:612997 NCIT:C80076 OMIM:415000 OMIM:615081 OMIM:270960 OMIM:615841 DOID:14227 OMIM:258150 OMIM:613957 OMIM:606766 OMIM:309120 OMIM:614822 OMIM:243060 OMIM:615842 SCTID:425558002 OMIM:613958 OMIM:615413 ICD10:N46.0 OMIM:102530" +MONDO:0004983 "Complete absence of spermatozoa in the semen." "OMIM:613958 DOID:14227 OMIM:613957 OMIM:108420 OMIM:615413 OMIM:309120 OMIM:606766 MESH:D053713 UMLS:C0004509 OMIM:243060 OMIM:258150 OMIM:615841 SCTID:425558002 OMIM:615081 NCIT:C80076 OMIMPS:258150 ICD9:606.0 OMIM:614822 OMIM:612997 EFO:0000279 OMIM:615842 OMIM:415000 OMIM:270960 OMIM:102530" CHR:9606-chr20p13 MONDO:0010492 "Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene." "Orphanet:963 UMLS:C4012409 OMIM:300943" CHEBI:38925 http://identifiers.org/hgnc/7808 -MONDO:0006008 "Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)" "UMLS:C0751908 ICD10:H81.20 SCTID:186738001 MESH:D020338 DOID:12683 ICD9:386.12 ICD10:A88.1 ICD10:H81.2 EFO:0007537 ICD9:078.81" -MONDO:0017060 "ICD10:Q00.2 SCTID:203928008 Orphanet:268363" +MONDO:0006008 "Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)" "UMLS:C0751908 ICD10CM:H81.2 SCTID:186738001 MESH:D020338 DOID:12683 ICD9:386.12 EFO:0007537 ICD9:078.81" +MONDO:0017060 "ICD10CM:Q00.2 SCTID:203928008 Orphanet:268363" MONDO:0043537 "A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms." "EFO:0008571 Orphanet:1002 NCIT:C117077 MESH:D003027 SCTID:193031009" MONDO:0011623 MONDO:0016960 "Orphanet:262905" @@ -19733,7 +19724,7 @@ MONDO:0003589 "A malignant adipose tissue neoplasm of the ovary." "NCIT:C6419 UM MONDO:0043475 "An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery." "SCTID:46935006 UMLS:C0001396 MESH:D000219 EFO:1001259 NCIT:C79765" HP:0001300 "Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait." "MSH:D020734 SNOMEDCT_US:32798002 UMLS:C0242422" UBERON:0005048 -MONDO:0005420 "Abnormally low levels of thyroid hormone." "EFO:0004705 ICD10:E03.9 NCIT:C26800 ICD9:244.9 SCTID:40930008 DOID:1459 MESH:D007037" +MONDO:0005420 "Abnormally low levels of thyroid hormone." "EFO:0004705 NCIT:C26800 ICD9:244.9 SCTID:40930008 DOID:1459 MESH:D007037" MONDO:0014120 "DOID:0111238 UMLS:C3809042 Orphanet:899 OMIM:615287" UBERON:0009846 http://identifiers.org/hgnc/4204 @@ -19742,19 +19733,19 @@ CL:0000961 "A follicular B cell that is IgD-positive, CD23-negative, and CD38-ne MONDO:0011627 "UMLS:C1853755 OMIM:606053" http://identifiers.org/hgnc/16873 http://identifiers.org/hgnc/2909 -MONDO:0006547 "Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful." "NCIT:C111884 ICD9:782.1 HP:0000988 EFO:1000697 DOID:0050486 MESH:D005076 Wikipedia:Exanthem ICD10:R21 NCIT:C39594 SCTID:271807003" -MONDO:0012990 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene." "MESH:C567197 GARD:0010882 DOID:0110330 ICD10:H35.5 UMLS:C2675186 OMIM:612712" +MONDO:0006547 "Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful." "NCIT:C111884 ICD9:782.1 HP:0000988 EFO:1000697 DOID:0050486 MESH:D005076 Wikipedia:Exanthem NCIT:C39594 SCTID:271807003" +MONDO:0012990 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene." "MESH:C567197 GARD:0010882 DOID:0110330 UMLS:C2675186 OMIM:612712" MONDO:0012823 "OMIM:612232" http://identifiers.org/hgnc/3006 UBERON:0014530 -MONDO:0005340 "Loss of scalp and body hair involving microscopically inflammatory patchy areas." "SCTID:68225006 DOID:986 ICD10:L63.9 UMLS:C0002171 OMIM:104000 GARD:0005782 EFO:0004192 ICD9:704.01 MESH:D000506 OMIM:610753 ICD10:L63" +MONDO:0005340 "Loss of scalp and body hair involving microscopically inflammatory patchy areas." "SCTID:68225006 DOID:986 UMLS:C0002171 OMIM:104000 GARD:0005782 EFO:0004192 ICD9:704.01 MESH:D000506 OMIM:610753 ICD10CM:L63" UBERON:0014796 -MONDO:0009933 "Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation." "UMLS:C1849554 ICD10:Q33.8 SCTID:45142002 OMIM:265300 Orphanet:2414 NCIT:C99034 GARD:0009900 MESH:C537727" +MONDO:0009933 "Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation." "UMLS:C1849554 SCTID:45142002 OMIM:265300 Orphanet:2414 NCIT:C99034 GARD:0009900 ICD10CM:Q33.8 MESH:C537727" GO:0006119 "The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis." HP:0000750 "A degree of language development that is significantly below the norm for a child of a specified age." "SNOMEDCT_US:162294008 UMLS:C0233715 SNOMEDCT_US:29164008 SNOMEDCT_US:62415009 MSH:D007805 UMLS:C0023012 UMLS:C0241210 UMLS:C0454644 SNOMEDCT_US:229721007" -MONDO:0044331 "An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome." "ICD10:P72.2 Orphanet:226316" -MONDO:0007035 "A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy." "ICD10:L83 Orphanet:924 UMLS:C0000889 SCTID:402599005 MESH:D000052 EFO:1000660 NCIT:C26687 DOID:3138 OMIM:200170 Wikipedia:Acanthosis_nigricans HP:0000956" -MONDO:0011057 "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction." "SCTID:62914000 ICD10:I67.9 SCTID:230690007 NCIT:C2938 MESH:D002561 MESH:D020521 ICD10:I63.9 ICD10:I60.I69 ICD9:437.8 OMIM:601367 ICD9:434.91 ICD10:I60-I69 EFO:0003763 DOID:6713 ICD9:430-438.99 UMLS:C0007820 NCIT:C3390 EFO:0000712 ICD9:437.9" +MONDO:0044331 "An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome." "Orphanet:226316" +MONDO:0007035 "A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy." "Orphanet:924 UMLS:C0000889 SCTID:402599005 MESH:D000052 EFO:1000660 NCIT:C26687 DOID:3138 OMIM:200170 Wikipedia:Acanthosis_nigricans HP:0000956 ICD10CM:L83" +MONDO:0011057 "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction." "EFO:0003763 ICD9:437.9 MESH:D020521 OMIM:601367 DOID:6713 ICD9:434.91 NCIT:C2938 NCIT:C3390 ICD9:437.8 EFO:0000712 SCTID:62914000 MESH:D002561 ICD9:430-438.99 ICD10CM:I60-I69 SCTID:230690007 UMLS:C0007820" MONDO:0033631 "OMIM:619057" UBERON:0005049 MONDO:0027749 "Orphanet:250805" @@ -19762,12 +19753,12 @@ UBERON:0011197 UBERON:0009847 GO:0002921 "Any process that stops, prevents, or reduces the frequency, rate, or extent of a humoral immune response." MONDO:0014387 "UMLS:C4014588 OMIM:615889" -MONDO:0012413 "Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." "Orphanet:178364 OMIM:610125 UMLS:C4305151 UMLS:C1864690 SCTID:718761007 MESH:C566441 ICD10:Q11.2 GARD:0003692" +MONDO:0012413 "Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." "Orphanet:178364 OMIM:610125 UMLS:C4305151 UMLS:C1864690 ICD10CM:Q11.2 SCTID:718761007 MESH:C566441 GARD:0003692" MONDO:0006184 "The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion." "UMLS:C0334383 NCIT:C4195 EFO:1000221 ICDO:8522/2" GO:1903284 "Any process that activates or increases the frequency, rate or extent of glutathione peroxidase activity." -MONDO:0014121 "Orphanet:363454 GARD:0013222 ICD10:G12.1 OMIM:615290 Orphanet:363447 UMLS:C3809049" -MONDO:0005055 "A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS)." "Orphanet:33276 GARD:0006814 ICD10:C46.7 MedDRA:10023284 NCIT:C9087 ICD10:C46.0 ICD10:C46.2 ICD9:176 ICD9:176.9 MESH:D012514 EFO:0000558 HP:0100726 ICDO:9140/3 ICD10:C46.1 ICD10:C46.3 DOID:8632 OMIM:148000 ICD9:176.8 ICD10:C46.8 SCTID:109385007 ICD10:C46.9" -MONDO:0018155 "Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production." "ICD10:G12.2 OMIM:611637 NCIT:C129933 UMLS:C0154682 ICD10:G12.29 GARD:0010684 MESH:D016472 SCTID:81211007 MedDRA:10036704 ICD9:335.24 Orphanet:35689 DOID:230" +MONDO:0014121 "Orphanet:363454 ICD10CM:G12.1 GARD:0013222 OMIM:615290 Orphanet:363447 UMLS:C3809049" +MONDO:0005055 "A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS)." "ICD10CM:C46.3 Orphanet:33276 GARD:0006814 ICD10CM:C46.0 MedDRA:10023284 ICD10CM:C46.2 NCIT:C9087 ICD9:176 ICD9:176.9 MESH:D012514 EFO:0000558 HP:0100726 ICD10CM:C46.1 ICDO:9140/3 DOID:8632 OMIM:148000 ICD9:176.8 ICD10CM:C46.7 ICD10CM:C46.9 SCTID:109385007" +MONDO:0018155 "Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production." "OMIM:611637 NCIT:C129933 UMLS:C0154682 ICD10CM:G12.2 GARD:0010684 MESH:D016472 SCTID:81211007 MedDRA:10036704 ICD9:335.24 Orphanet:35689 DOID:230" http://identifiers.org/hgnc/14211 MONDO:0011626 "UMLS:C1853757 OMIM:606049 MESH:C535656 GARD:0010194" GO:0071702 "The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon." @@ -19779,18 +19770,18 @@ MONDO:0005464 "Retinal detachment secondary to retinal tear or break." "NCIT:C11 MONDO:0002191 "A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis." "ICDO:8407/0 UMLS:C0206673 NCIT:C3761 DOID:2065 MESH:D018252 GARD:0010547 SCTID:302828001" MONDO:0000590 "A hypersensitivity reaction type II disease that involves the peripheral nervous system." "DOID:0060033" ENVO:00000020 "A body of water or other liquid of considerable size contained in a depression on a landmass." -MONDO:0010520 "X-linked form of Alport syndrome." "ICD10:Q87.8 GARD:0005785 Orphanet:63 MedDRA:10001843 DOID:0110034 Orphanet:88917 SCTID:717768004 OMIM:301050" +MONDO:0010520 "X-linked form of Alport syndrome." "ICD10CM:Q87.8 GARD:0005785 Orphanet:63 MedDRA:10001843 DOID:0110034 Orphanet:88917 SCTID:717768004 OMIM:301050" http://identifiers.org/hgnc/3007 UBERON:0014531 NCBITaxon:216285 "GC_ID:1" -MONDO:0007316 "Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic." "SCTID:253185002 Orphanet:268882 MedDRA:10056944 ICD10:G95.0 OMIM:118420" +MONDO:0007316 "Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic." "SCTID:253185002 Orphanet:268882 MedDRA:10056944 ICD10CM:G95.0 OMIM:118420" http://identifiers.org/hgnc/13013 GO:0051461 "Any process that activates or increases the frequency, rate or extent of the regulated release of corticotropin hormone from a cell." GO:0016409 "Catalysis of the transfer of a palmitoyl (CH3-[CH2]14-CO-) group to an acceptor molecule." MONDO:0012826 "OMIM:612238" MONDO:0014066 "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene." "Orphanet:1460 DOID:0080114 OMIM:615160 UMLS:C3554608" UBERON:0011198 -MONDO:0005148 "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." "SCTID:44054006 ICD10:E11 OMIM:616087 OMIM:125853 KEGG:04930 MESH:D003924 OMIM:601283 DOID:9352 NCIT:C26747 OMIM:608036 EFO:0001360 OMIM:603694 OMIM:601407 UMLS:CN244395" +MONDO:0005148 "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." "SCTID:44054006 OMIM:616087 OMIM:125853 KEGG:04930 MESH:D003924 OMIM:601283 DOID:9352 NCIT:C26747 OMIM:608036 EFO:0001360 OMIM:603694 OMIM:601407 UMLS:CN244395" UBERON:0009844 MONDO:0012539 "Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene." "UMLS:C1853153 DOID:0111001 OMIM:610688 Orphanet:475 MESH:C537689" CL:0002134 "A stromal cell of the ovarian medulla." "FMA:256171" @@ -19808,7 +19799,7 @@ CHEBI:78113 "Any saturated fatty acid anion containing 3 carbons. Formed by depr MONDO:0005144 "An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome." "OMIM:616208 OMIM:612069 OMIM:614696 OMIM:613954 OMIM:105400 OMIM:608627 OMIM:606070 EFO:0001356 OMIM:300857 OMIM:613435 OMIMPS:105400 OMIM:615426 OMIM:608031 OMIM:615515 OMIM:606640 OMIM:205250 OMIM:205100 OMIM:612577 OMIM:616437 OMIM:608030 OMIM:614808 OMIM:611895 OMIM:614373" MONDO:0009809 "A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy." "OMIM:259600 NCIT:C123437" MONDO:0012827 "OMIM:612239" -MONDO:0016240 "Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity." "MedDRA:10019464 ICD10:Q71.8 Orphanet:2130 UMLS:C0018987 SCTID:33076008 ICD10:Q72.8 NCIT:C34674 ICD10:Q73.8" +MONDO:0016240 "Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity." "ICD10CM:Q72.8 MedDRA:10019464 Orphanet:2130 UMLS:C0018987 ICD10CM:Q73.8 SCTID:33076008 ICD10CM:Q71.8 NCIT:C34674" UBERON:0009845 GO:0006860 "The directed extracellular movement of amino acids." http://identifiers.org/hgnc/10519 @@ -19818,23 +19809,23 @@ http://identifiers.org/hgnc/16876 MONDO:0003487 "A squamous cell carcinoma characterized by the formation of gland-like structures." "NCIT:C4106 SCTID:403901001 ICDO:8075/3 DOID:5524 UMLS:C0334393 UMLS:C0334250" MONDO:0009715 "Autosomal recessive form of myotonia congenita." "OMIM:255700 Orphanet:614 UMLS:C0751360" MONDO:0030038 "OMIM:618880" -MONDO:0011790 "Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." "GARD:0008606 MESH:C538247 Orphanet:99742 OMIM:607196 SCTID:702437000 ICD10:Q02 UMLS:C1846648" +MONDO:0011790 "Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." "ICD10CM:Q02 GARD:0008606 MESH:C538247 Orphanet:99742 OMIM:607196 SCTID:702437000 UMLS:C1846648" MONDO:0006458 "Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." "NCIT:C7997 ICDO:8585/1 DOID:7926 EFO:1000583 ICDO:8585/3 UMLS:C0279705" UBERON:0014795 NCBITaxon:33183 "GC_ID:1 PMID:17486980" -MONDO:0018267 "Orphanet:370114 ICD10:G24.3" -MONDO:0018001 "Orphanet:329324 ICD10:Q87.2 UMLS:CN204209" +MONDO:0018267 "Orphanet:370114 ICD10CM:G24.3" +MONDO:0018001 "Orphanet:329324 UMLS:CN204209 ICD10CM:Q87.2" MONDO:0011880 "OMIM:607644 UMLS:C1843306 MESH:C564361" -MONDO:0018154 "Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow." "ICD10:Q74.0 SCTID:4530000 OMIM:127300 MedDRA:10007700 ICD9:755.54 Orphanet:35688 GARD:0012973" +MONDO:0018154 "Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow." "SCTID:4530000 ICD10CM:Q74.0 OMIM:127300 MedDRA:10007700 ICD9:755.54 Orphanet:35688 GARD:0012973" MONDO:0004102 "A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells." "DOID:7088 UMLS:C1333120 ICDO:8344/3 NCIT:C35830" UBERON:0004946 http://identifiers.org/hgnc/1965 -MONDO:0009963 "Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive." "SCTID:719840003 OMIM:266910 GARD:0005394 Orphanet:3404 MESH:C537754 ICD10:Q87.8 UMLS:C1849438" +MONDO:0009963 "Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive." "SCTID:719840003 OMIM:266910 GARD:0005394 Orphanet:3404 MESH:C537754 ICD10CM:Q87.8 UMLS:C1849438" UBERON:0005044 ECTO:0000007 "A exposure event involving the interaction of an exposure receptor to visible spectrum radiation." MONDO:0015508 "UMLS:CN199641 Orphanet:156604" http://identifiers.org/hgnc/2063 -MONDO:0000922 "Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection." "ICD9:614.8 ICD10:N73.9 ICD10:N70-N77 EFO:1001388 UMLS:C0242172 NCIT:C3889 MESH:D000292 DOID:1003 ICD9:614.9 ICD9:614-616.99 SCTID:198130006" +MONDO:0000922 "Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection." "ICD9:614.8 EFO:1001388 ICD10CM:N70-N77 UMLS:C0242172 NCIT:C3889 MESH:D000292 DOID:1003 ICD9:614.9 ICD9:614-616.99 SCTID:198130006" GO:1904729 "Any process that modulates the frequency, rate or extent of intestinal lipid absorption." MONDO:0032696 "OMIM:618353" UBERON:0014792 @@ -19844,22 +19835,22 @@ MONDO:0030035 "OMIM:618877" UBERON:0004945 MONDO:0010682 "UMLS:C0751778 OMIM:310370 Orphanet:308" GO:0070561 "The series of molecular signals generated as a consequence of a vitamin D receptor binding to one of its physiological ligands." -MONDO:0004646 "Death of tissue due to external pressure." "ICD9:707.0 DOID:8717 NCIT:C50706 ICD10:L89.9 ICD10:L89 MESH:D003668 EFO:0007067 SCTID:399912005 ICD9:707.00 UMLS:C0011127" +MONDO:0004646 "Death of tissue due to external pressure." "ICD9:707.0 DOID:8717 NCIT:C50706 MESH:D003668 EFO:0007067 SCTID:399912005 ICD9:707.00 UMLS:C0011127" UBERON:0006241 MONDO:0016704 "UMLS:CN201948 Orphanet:251668" MONDO:0005766 "Pulmonary diseases caused by fungal infections, usually through hematogenous spread." "MESH:D008172 UMLS:C0024116 EFO:0007278" -MONDO:0008533 "An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption." "ICD10:K00.1 MESH:D014096 OMIM:187100 SCTID:8666004" +MONDO:0008533 "An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption." "MESH:D014096 OMIM:187100 ICD10CM:K00.1 SCTID:8666004" MONDO:0002491 "The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed." "SCTID:66214007 MESH:D019966 ICD9:305.90 DOID:302 NCIT:C16522" MONDO:0021082 "A neoplasm involving a Meckel's diverticulum." "UMLS:C0345839 SCTID:126836001" UBERON:0004947 UBERON:0005045 MONDO:0021009 "A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." "SCTID:423708008 UMLS:C1335903 NCIT:C5908" -MONDO:0012520 "Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight." "Orphanet:2297 OMIM:610549 ICD10:E13 NCIT:C131836 EFO:1001503 MESH:C562710 GARD:0003008" -CL:0000746 "Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. In mammals, the contractile fiber resembles those of skeletal muscle but are only one third as large in diameter, are richer in sarcoplasm, and contain centrally located instead of peripheral nuclei." "BTO:0001539 CALOHA:TS-0115 FMA:14067" -MONDO:0006904 "A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes." "MedDRA:10034878 SCTID:449826002 DOID:2712 MESH:D010688 ICD10:N47.1 NCIT:C26852 EFO:1001104" -MONDO:0019883 "Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed." "SCTID:764520001 Orphanet:96101 ICD10:Q92.3" +MONDO:0012520 "Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight." "Orphanet:2297 OMIM:610549 NCIT:C131836 EFO:1001503 ICD10CM:E13 MESH:C562710 GARD:0003008" +CL:0000746 "Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. In mammals, the contractile fiber resembles those of skeletal muscle but are only one third as large in diameter, are richer in sarcoplasm, and contain centrally located instead of peripheral nuclei." "CALOHA:TS-0115 BTO:0001539 FMA:14067" +MONDO:0006904 "A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes." "MedDRA:10034878 SCTID:449826002 DOID:2712 MESH:D010688 ICD10CM:N47.1 NCIT:C26852 EFO:1001104" +MONDO:0019883 "Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed." "SCTID:764520001 Orphanet:96101" CHEBI:25710 "An organophosphorus compound is formally a compound containing at least one carbon-phosphorus bond, but the term is often extended to include esters and thioesters." -MONDO:0019463 "Orphanet:86861 ICD10:D89.8 UMLS:CN206242" +MONDO:0019463 "Orphanet:86861 ICD10CM:D89.8 UMLS:CN206242" UBERON:0014793 PO:0009013 "A portion of plant tissue (PO:0009007) in which plant cells (PO:0009002) have retained their embryonic characteristics, or have reverted to them secondarily, and that divide to produce new cells that can undergo differentiation to form mature tissues, i.e. they have a capacity for morphogenesis and growth." "PO_GIT:472" http://identifiers.org/hgnc/3261 @@ -19868,33 +19859,33 @@ GO:0045453 "The process in which specialized cells known as osteoclasts degrade MONDO:0010681 "OMIM:310350 UMLS:C1839650" MONDO:0000847 MONDO:0030036 "OMIM:618878" -MONDO:0005033 "A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray." "NIFSTD:birnlex_12617 EFO:0000500 ICD9:215.9 DOID:4817 UMLS:C0017075 SCTID:116371000119107 ICD10:D36.1 ONCOTREE:GN HP:0003005 ICDO:9490/0 NCIT:C3049 MESH:D005729 Orphanet:251992 MedDRA:10017709" +MONDO:0005033 "A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray." "NIFSTD:birnlex_12617 EFO:0000500 ICD9:215.9 DOID:4817 UMLS:C0017075 ICD10CM:D36.1 SCTID:116371000119107 ONCOTREE:GN HP:0003005 ICDO:9490/0 NCIT:C3049 MESH:D005729 Orphanet:251992 MedDRA:10017709" MONDO:0002144 "SCTID:35885006 EFO:0009104 NCIT:C3961 DOID:1920 ICD9:790.6 UMLS:C0740394 MESH:D033461" MONDO:0022849 "GARD:0001504" UBERON:0006240 HP:0008071 "Increased blood pressure during a pregnancy." "UMLS:C0565599 SNOMEDCT_US:288250001" -MONDO:0008040 "A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission." "Orphanet:420611 ONCOTREE:TAM ICDO:9898/1 UMLS:C1834582 OMIM:159595 HP:0005534 ICD10:D47.7 NCIT:C82339 MESH:C563551 GARD:0012765 SCTID:721307000 DOID:0060888" +MONDO:0008040 "A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission." "Orphanet:420611 ONCOTREE:TAM ICDO:9898/1 UMLS:C1834582 OMIM:159595 HP:0005534 NCIT:C82339 MESH:C563551 GARD:0012765 SCTID:721307000 DOID:0060888" MONDO:0002010 "FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential." "OMIM:300406 OMIM:300321 SCTID:49984004 ICD9:759.89 UMLS:C0220769 DOID:14711 OMIMPS:305400 OMIM:300581 OMIM:305450 Orphanet:323 GARD:0002317 OMIM:300422" MONDO:0018265 "UMLS:CN227296 Orphanet:370106" MONDO:0016969 "UMLS:C0795871 GARD:0005326 MESH:C538311 Orphanet:262986" -MONDO:0012579 "Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS)." "Orphanet:747 OMIM:610910 ICD10:J84.0 MESH:C567049 GARD:0007499 SCTID:707443007 UMLS:C1970472" +MONDO:0012579 "Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS)." "Orphanet:747 OMIM:610910 ICD10CM:J84.0 MESH:C567049 GARD:0007499 SCTID:707443007 UMLS:C1970472" MONDO:0033630 "OMIM:619056" GO:0045986 "Any process that stops, prevents, or reduces the frequency, rate or extent of smooth muscle contraction." UBERON:0005046 http://identifiers.org/hgnc/1701 UBERON:0004948 -MONDO:0011882 "MESH:C564359 Orphanet:293165 GARD:0005231 UMLS:C1843292 ICD10:Q82.8 OMIM:607655" +MONDO:0011882 "MESH:C564359 Orphanet:293165 GARD:0005231 ICD10CM:Q82.8 UMLS:C1843292 OMIM:607655" http://identifiers.org/hgnc/1967 -MONDO:0006516 "Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." "EFO:1000653 MESH:D055948 MedDRA:10063024 UMLS:C0872084 ICD10:M62.84" +MONDO:0006516 "Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." "EFO:1000653 MESH:D055948 MedDRA:10063024 ICD10CM:M62.84 UMLS:C0872084" CHEBI:38867 "Substance which produces loss of feeling or sensation." CHR:9606-chr13q MONDO:0030033 "OMIM:618875" UBERON:0014790 MONDO:0017067 "UMLS:CN202426 Orphanet:268397" -MONDO:0007278 "A cataract that has material basis in mutation in the region 14q22-q23." "Orphanet:91492 Orphanet:98988 DOID:0110227 ICD10:Q12.0 OMIM:115650 Orphanet:98993" +MONDO:0007278 "A cataract that has material basis in mutation in the region 14q22-q23." "Orphanet:91492 Orphanet:98988 DOID:0110227 OMIM:115650 Orphanet:98993" MONDO:0000846 CL:1001608 "Fibroblast from foreskin." "CALOHA:TS-0384" -MONDO:0009196 "Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease." "UMLS:C0268501 GARD:0000407 ICD10:E70.3 UMLS:C1856899 SCTID:10170007 OMIM:227010 MESH:C562663 MEDGEN:82812 Orphanet:999 ICD9:270.2 MESH:C535508" +MONDO:0009196 "Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease." "UMLS:C0268501 GARD:0000407 UMLS:C1856899 SCTID:10170007 OMIM:227010 MESH:C562663 MEDGEN:82812 ICD10CM:E70.3 Orphanet:999 ICD9:270.2 MESH:C535508" MONDO:0032698 "OMIM:618356" MONDO:0015505 "Orphanet:156252" IAO:8000007 "A subset ontology that is intended as a whitelist for curators using the ontology. Such a subset will exclude classes that curators should not use for curation."@en @@ -19915,10 +19906,10 @@ MONDO:0030034 "OMIM:618876" MONDO:0022560 "A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord." "GARD:0010776" UBERON:0014791 MONDO:0017068 "UMLS:CN202428 Orphanet:268740" -MONDO:0012848 "Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene." "Orphanet:564 UMLS:C2676790 DOID:0070120 MESH:C567365 OMIM:612284 ICD10:Q61.9" +MONDO:0012848 "Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene." "Orphanet:564 UMLS:C2676790 DOID:0070120 MESH:C567365 OMIM:612284" HsapDv:0000127 "Adult stage that refers to an adult who is over 33 and under 34." MONDO:0032697 "OMIM:618354" -MONDO:0015504 "ICD10:Q31.1 ICD10:Q31.9 Orphanet:156249 ICD10:Q31.8 ICD10:Q31.5 ICD10:Q31.0 ICD10:Q31.3" +MONDO:0015504 "ICD10CM:Q31.9 ICD10CM:Q31.5 Orphanet:156249 ICD10CM:Q31.3 ICD10CM:Q31.0 ICD10CM:Q31.8 ICD10CM:Q31.1" CHEBI:33709 "A carboxylic acid containing one or more amino groups." http://identifiers.org/hgnc/13273 CL:0002264 "A type of enteroendocrine cell found in the stomach that secretes glucagon." "FMA:83411" @@ -19928,40 +19919,38 @@ MONDO:0016967 "Orphanet:262968 UMLS:CN035860 GARD:0005320" GO:0051798 "Any process that activates or increases the frequency, rate or extent of hair follicle development." MONDO:0013180 "OMIM:613207" UBERON:0002546 -MONDO:0000843 MONDO:0003326 "A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules." "NCIT:C42057 DOID:5194 UMLS:C1517444" MONDO:0015338 "A craniosynostosis that is part of a larger syndrome." "UMLS:CN226660 Orphanet:139393" CHEBI:29745 "Conjugate base of barbituric acid." UBERON:0005040 -MONDO:0015503 "ICD10:Q30.9 ICD10:Q30.3 ICD10:Q30.0 ICD10:Q30.8 Orphanet:156246 ICD10:Q30.2 ICD10:Q30.1" +MONDO:0015503 "ICD10CM:Q30.1 Orphanet:156246 ICD10CM:Q30.8 ICD10CM:Q30.2 ICD10CM:Q30.9 ICD10CM:Q30.3 ICD10CM:Q30.0" MONDO:0017065 "UMLS:CN202424 Orphanet:268388" MONDO:0030031 "OMIM:618873" -MONDO:0007231 "Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986." "Orphanet:1295 ICD10:Q87.0 OMIM:113480 UMLS:C2931421 MESH:C537101" +MONDO:0007231 "Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986." "Orphanet:1295 OMIM:113480 UMLS:C2931421 MESH:C537101 ICD10CM:Q87.0" MONDO:0005596 "A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas." "EFO:0006387 NCIT:C2971 DOID:3111 UMLS:C0010631 ICDO:8440/3 MESH:D003536" MONDO:0015956 "OBSOLETE. Rare hereditary ataxia." UBERON:0004941 MONDO:0014422 "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." "UMLS:C4014831 Orphanet:289365 OMIM:615963" UBERON:0006245 MONDO:0032692 "OMIM:618348" -MONDO:0005777 "A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia." "EFO:0007291 ICD9:099.2 ICD10:A58 GARD:0009532 SCTID:28867007 UMLS:C0018190 NCIT:C3065 MESH:D006100 DOID:9113" +MONDO:0005777 "A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia." "EFO:0007291 ICD9:099.2 GARD:0009532 SCTID:28867007 ICD10CM:A58 UMLS:C0018190 NCIT:C3065 MESH:D006100 DOID:9113" MONDO:0016966 "Orphanet:262959 GARD:0005316 MESH:C538042 UMLS:CN036363" http://identifiers.org/hgnc/11976 -MONDO:0018896 "Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP." "ICD10:M31.1 MESH:D011697 DOID:10772 SCTID:78129009 MedDRA:10043648 NCIT:C78797 UMLS:C0034155 OMIM:274150 Orphanet:54057" +MONDO:0018896 "Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP." "MESH:D011697 DOID:10772 SCTID:78129009 ICD10CM:M31.1 MedDRA:10043648 NCIT:C78797 UMLS:C0034155 OMIM:274150 Orphanet:54057" CHEBI:58570 "A D-alpha-amino acid zwitterion that is D-tyrosine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3." MONDO:0031230 "OMIMPS:252011" -MONDO:0000842 -MONDO:0018150 "Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease)." "ICD10:E75.2 OMIM:608013 OMIM:610539 GARD:0008233 OMIM:231005 OMIM:231000 MedDRA:10018048 MESH:D005776 Orphanet:355 SCTID:190794006 OMIM:230900 DOID:1926 OMIM:230800 NCIT:C61268 ICD10:E75.22 UMLS:C0017205" +MONDO:0018150 "Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease)." "OMIM:608013 OMIM:610539 GARD:0008233 OMIM:231005 ICD10CM:E75.2 OMIM:231000 MedDRA:10018048 MESH:D005776 Orphanet:355 SCTID:190794006 OMIM:230900 DOID:1926 OMIM:230800 NCIT:C61268 UMLS:C0017205 ICD10CM:E75.22" http://identifiers.org/hgnc/1968 GO:0009450 "The chemical reactions and pathways resulting in the breakdown of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms." MONDO:0006056 "A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells." "DOID:5514 UMLS:C1336079 NCIT:C5177 EFO:1000053 ONCOTREE:MSCC" CHEBI:50691 "A chemical substance that interrupts pregnancy after implantation." -MONDO:0009191 "Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive." "MedDRA:10062600 ICD10:Q87.5 Orphanet:1824 MESH:C537038 GARD:0000264 SCTID:721975004 OMIM:226960 UMLS:C0796021" +MONDO:0009191 "Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive." "MedDRA:10062600 ICD10CM:Q87.5 Orphanet:1824 MESH:C537038 GARD:0000264 SCTID:721975004 OMIM:226960 UMLS:C0796021" UBERON:0005041 MONDO:0017066 "Orphanet:268392 UMLS:CN202425 ICD9:741.91 SCTID:425687007" MONDO:0015502 "Orphanet:156243" MONDO:0030298 "OMIM:619367" -MONDO:0007837 "Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism." "Orphanet:2316 MESH:C535882 UMLS:C0796002 GARD:0000378 ICD10:Q87.8 OMIM:147770 SCTID:721584005" -MONDO:0030032 "OMIM:618874" +MONDO:0007837 "Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism." "Orphanet:2316 MESH:C535882 UMLS:C0796002 GARD:0000378 OMIM:147770 SCTID:721584005 ICD10CM:Q87.8" +MONDO:0030032 UBERON:0004942 http://identifiers.org/hgnc/10778 MONDO:0010685 "OMIM:310460 MESH:C564091 UMLS:C1839612" @@ -19972,7 +19961,7 @@ MONDO:0022316 "Syndrome with the association of stubby, coarse, sparse and fragi MONDO:0000502 "An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina." "UMLS:C0206674 DOID:0050869 MESH:D018253 NCIT:C7399 ICDO:8261/0" GO:0048870 "Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another." MONDO:0000841 -MONDO:0005868 "A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells." "UMLS:C0002890 ICD9:285.8 MESH:D000750 DOID:2354 SCTID:2694001 ICD10:D61.82 NCIT:C36218 EFO:0007388" +MONDO:0005868 "A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells." "UMLS:C0002890 ICD9:285.8 MESH:D000750 DOID:2354 ICD10CM:D61.82 SCTID:2694001 NCIT:C36218 EFO:0007388" UBERON:0005042 GO:0006163 "The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar." MONDO:0017063 "UMLS:CN202422 Orphanet:268377" @@ -19981,7 +19970,7 @@ MONDO:0032694 "OMIM:618351" MONDO:0015501 "UMLS:CN199635 Orphanet:156237" NCBITaxon:40272 "GC_ID:1" UBERON:0004943 -MONDO:0007342 "The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply." "Orphanet:199315 ICD10:Q66.0 MESH:D003025 ICD9:754.51 NCIT:C84641 DOID:11836 Orphanet:293144 SCTID:397932003 Orphanet:293150 ICD10:Q66.89 OMIM:119800" +MONDO:0007342 "The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply." "OMIM:119800 Orphanet:199315 MESH:D003025 ICD9:754.51 NCIT:C84641 DOID:11836 Orphanet:293144 SCTID:397932003 Orphanet:293150" MONDO:0005594 "A permanent mark left on the skin in the process of wound healing." "SCTID:275322007 NCIT:C34483 MedDRA:20000020 EFO:0006346" ENVO:01000624 "Hydrological condensation is a process in which atmospheric water vapour undergoes a phase transition from the gas phase to the liquid phase." MONDO:0002903 "A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants)." "SCTID:386701004 DOID:4186 MESH:D001184 NCIT:C92564 ICD9:315.39" @@ -20008,13 +19997,13 @@ HP:0100886 "An abnormality in the placement of the ocular globe (eyeball)." "UML MONDO:0022919 "A disease that has its basis in the disruption of cytokine receptor activity." "GARD:0009530" CL:0002336 "An endothelial cell that lines the oral cavitiy including the mucosa of the gums, the palate, the lip, and the cheek." UBERON:0006242 -MONDO:0018262 "Orphanet:370068 ICD10:Q86.8 UMLS:C1739111" +MONDO:0018262 "Orphanet:370068 ICD10CM:Q86.8 UMLS:C1739111" MONDO:0010687 "MESH:C562901 Orphanet:93622 Orphanet:1652 SCTID:236713006 OMIM:310468" MONDO:0030030 "OMIM:618872" -MONDO:0005112 "A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." "DOID:7474 UMLS:C0812413 SCTID:254645002 NCIT:C7376 ICD10:C45.0 EFO:0000770" +MONDO:0005112 "A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive." "DOID:7474 UMLS:C0812413 SCTID:254645002 NCIT:C7376 EFO:0000770" CL:0002363 "A keratocyte is a specialized fibroblast residing in the cornea stroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. This corneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components. This cell type secretes collagen I, V, VI, and keratin sulfate." http://identifiers.org/hgnc/28862 -MONDO:0009994 "A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities." "EFO:0000248 ICDO:8920/3 DOID:4051 ICD9:171.9 MedDRA:10065867 Orphanet:780 Orphanet:99756 OMIM:268220 SCTID:404053004 GARD:0004701 UMLS:C0206655 ONCOTREE:ARMS ICD10:C49.9 HP:0006779 MESH:D018232 NCIT:C3749" +MONDO:0009994 "A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities." "EFO:0000248 ICDO:8920/3 DOID:4051 ICD9:171.9 MedDRA:10065867 Orphanet:780 Orphanet:99756 OMIM:268220 ICD10CM:C49.9 SCTID:404053004 GARD:0004701 UMLS:C0206655 ONCOTREE:ARMS HP:0006779 MESH:D018232 NCIT:C3749" MONDO:0005732 MONDO:0021655 "UMLS:C1274173 SCTID:402723003 ICD9:701.8" MONDO:0021652 "An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma." "NCIT:C4127 ICDO:8145/3" @@ -20027,60 +20016,64 @@ UBERON:0001344 MONDO:0030293 "OMIM:619361" MONDO:0003338 CL:0002195 "A stem cell that can give rise to the cells of the liver." "FMA:86577" -MONDO:0016004 "Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy." "MedDRA:10071183 NCIT:C98928 Orphanet:1908 ICD10:Q86.8 UMLS:C0432367 GARD:0002294 ICD9:759.89 SCTID:65986000" -MONDO:0017386 "An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities." "Orphanet:293199 ICD9:171.9 ONCOTREE:PLRMS SCTID:404054005 UMLS:C0334480 DOID:3250 NCIT:C4258 ICD10:C49.9" +MONDO:0016004 "Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy." "MedDRA:10071183 NCIT:C98928 Orphanet:1908 UMLS:C0432367 GARD:0002294 ICD9:759.89 ICD10CM:Q86.8 SCTID:65986000" +MONDO:0017386 "An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities." "Orphanet:293199 ICD9:171.9 ONCOTREE:PLRMS SCTID:404054005 UMLS:C0334480 DOID:3250 ICD10CM:C49.9 NCIT:C4258" http://identifiers.org/hgnc/6860 http://identifiers.org/hgnc/26200 MONDO:0003572 "A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate." "ICDO:8082/3 NCIT:C4107 DOID:5660 UMLS:C0334254" MONDO:0020240 "A retinitis pigmentosa that is part of a larger syndrome." "UMLS:CN227834 Orphanet:98661" MONDO:0014184 "A communication disorder that involves the processing of linguistic information." "UMLS:C3809483 OMIM:615432" MONDO:0021654 "UMLS:C0406655 SCTID:238945000 ICD9:701.8" -MONDO:0010392 "Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities." "OMIM:300653 Orphanet:713 MESH:C567067 GARD:0007389 UMLS:C1970848 ICD10:E74.0 NCIT:C126738" -MONDO:0007603 "Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections." "EFO:0007269 OMIM:134750 MESH:D005258 Orphanet:47612 NCIT:C84712 UMLS:C0015773 ICD9:714.1 GARD:0008234 DOID:11042 ICD10:M05.00 MedDRA:10016386 ICD10:M05.0 SCTID:57160007" -MONDO:0004799 "ICD9:373.01 DOID:9483 ICD10:H01.01 UMLS:C0155173 SCTID:91662004" +MONDO:0010392 "Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities." "OMIM:300653 ICD10CM:E74.0 Orphanet:713 MESH:C567067 GARD:0007389 UMLS:C1970848 NCIT:C126738" +MONDO:0007603 "Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections." "EFO:0007269 OMIM:134750 MESH:D005258 Orphanet:47612 NCIT:C84712 UMLS:C0015773 ICD9:714.1 GARD:0008234 DOID:11042 MedDRA:10016386 ICD10CM:M05.0 SCTID:57160007" +MONDO:0004799 "ICD9:373.01 DOID:9483 UMLS:C0155173 SCTID:91662004" MONDO:0000775 "Immunologically mediated adverse reactions to medicinal substances used legally or illegally." "DOID:0060500 MESH:D004342" GO:1901522 "Any positive regulation of transcription from RNA polymerase II promoter that is involved in cellular response to chemical stimulus." MONDO:0030294 "OMIM:619362" UBERON:0001343 ENVO:01001201 "An environmental zone which is bounded by material parts of a marine environment." +MONDO:8000033 "Orphanet:557492" CARO:0001000 MONDO:0004442 "A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies." "UMLS:C1514200 NCIT:C40962 DOID:8042" MONDO:0018007 "Orphanet:329813 UMLS:CN230278" CL:2000061 "Any mesenchymal stem cell that is part of a placenta." MONDO:0014242 "Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene." "OMIM:615546 DOID:0080586 UMLS:C3809875 Orphanet:314679" -MONDO:0010455 "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias." "DOID:0080319 OMIM:300853 SCTID:711481001 ICD10:D81.8 Orphanet:317476 GARD:0010907 UMLS:C3275445" +MONDO:0010455 "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias." "DOID:0080319 OMIM:300853 SCTID:711481001 Orphanet:317476 GARD:0010907 UMLS:C3275445 ICD10CM:D81.8" CHEBI:35366 "Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax." UBERON:0002544 GO:0048856 "The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome." MONDO:0003317 "Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor." "DOID:5178 UMLS:C1334705 NCIT:C38158" MONDO:0021653 "UMLS:C0406659 ICD9:701.8 SCTID:110981005" MONDO:0004536 -MONDO:0002137 "ICD9:373.3 SCTID:111524003 DOID:1894 ICD10:H01.1 UMLS:C0155176" -MONDO:0004747 "A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse." "SCTID:80281008 DOID:9296 ICD10:Q36 EFO:0003959 ICD10:Q36.9 NCIT:C87175 ICD9:749.1 ICD9:749.10 ICD9:749.11 HP:0410030 MESH:D002971" +MONDO:0002137 "ICD9:373.3 SCTID:111524003 DOID:1894 UMLS:C0155176" +MONDO:0004747 "A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse." "SCTID:80281008 DOID:9296 EFO:0003959 NCIT:C87175 ICD9:749.1 ICD9:749.10 ICD9:749.11 HP:0410030 MESH:D002971" HP:0033401 "Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion." SO:0001504 "A chromosome variation derived from an event during meiosis." FOODON:00002044 HP:0000037 "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." "UMLS:C0238395 SNOMEDCT_US:111332007 MSH:D058490" -MONDO:0007030 "ICD10:Q87.1 Orphanet:915 MESH:C535331 OMIM:100050 DOID:6683 SCTID:14921002" +MONDO:0007030 "Orphanet:915 MESH:C535331 OMIM:100050 DOID:6683 SCTID:14921002" GO:0030857 "Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell differentiation." MONDO:0032690 "OMIM:618346" -MONDO:0009351 "Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant." "OMIM:236130 ICD9:277.89 DOID:0060177 UMLS:C0268632 SCTID:61764000 UMLS:C3495554 Orphanet:2168 GARD:0002730 MESH:C535328 ICD10:E72.8" +MONDO:8000034 "Orphanet:557493" +MONDO:8000032 "Orphanet:377789" +MONDO:0009351 "Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant." "OMIM:236130 ICD9:277.89 DOID:0060177 UMLS:C0268632 SCTID:61764000 UMLS:C3495554 Orphanet:2168 GARD:0002730 MESH:C535328 ICD10CM:E72.8" CARO:0001001 ENVO:01001787 -MONDO:0013486 "Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males." "UMLS:C4304844 SCTID:719254001 UMLS:C3151343 Orphanet:276183 ICD10:G11.8 OMIM:613909" +MONDO:0013486 "Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males." "ICD10CM:G11.8 UMLS:C4304844 SCTID:719254001 UMLS:C3151343 Orphanet:276183 OMIM:613909" HP:0000962 "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." "SNOMEDCT_US:396228006 SNOMEDCT_US:399955009 SNOMEDCT_US:26996000 MEDDRA:10020649 UMLS:C0870082" MONDO:0022850 MONDO:0003165 "Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative." "DOID:4848 NCIT:C9475 UMLS:C0740480" MONDO:0005733 -MONDO:0009502 "Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." "UMLS:C1855565 Orphanet:79244 OMIM:245348 Orphanet:765 ICD10:E74.4 MESH:C565448" -MONDO:0018008 "Orphanet:329874 ICD10:I40.8" +MONDO:0009502 "Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." "UMLS:C1855565 Orphanet:79244 OMIM:245348 Orphanet:765 ICD10CM:E74.4 MESH:C565448" +MONDO:0018008 "ICD10CM:I40.8 Orphanet:329874" UBERON:0004940 MONDO:0000941 "A neurodegenerative disease that involves the eyelid." "SCTID:1112003 ICD9:374.50 DOID:10120 UMLS:C0155209" -MONDO:0019384 "A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache." "ICD10:A85.8 DOID:5225 Orphanet:83600 UMLS:C0014040 SCTID:186499007 ICD9:049.8 GARD:0006332 NCIT:C34576 NCIT:C26761 MedDRA:10052369" +MONDO:0019384 "A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache." "ICD10CM:A85.8 DOID:5225 Orphanet:83600 UMLS:C0014040 SCTID:186499007 ICD9:049.8 GARD:0006332 NCIT:C34576 NCIT:C26761 MedDRA:10052369" MONDO:0006099 MONDO:0044346 "An disease or disorder caused by infection with Echinococcus granulosus." "SCTID:75006000 UMLS:C0152068 ICD9:122.3 ICD9:122.4" FOODON:00001002 "Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products."@en NCBITaxon:37989 "GC_ID:1" +MONDO:8000031 "Orphanet:557494" ENVO:01001788 MONDO:0015341 "Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed." "HP:0025471 Orphanet:139414" MONDO:0040728 "UMLS:C0275979 SCTID:111835002" @@ -20089,15 +20082,16 @@ ENVO:01000640 "A planetary mantle is a planetary layer which is an interior part NCBITaxon:620 "PMID:26834722 GC_ID:11" MONDO:0002763 "A verrucous carcinoma that involves the urethra." "DOID:3749 UMLS:C1519827 NCIT:C39874" http://identifiers.org/hgnc/10771 -MONDO:0004258 "A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse." "NCIT:C34958 SCTID:60103007 ICD10:F52.31 DOID:7518 ICD9:302.73" +MONDO:0004258 "A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse." "NCIT:C34958 SCTID:60103007 DOID:7518 ICD9:302.73 ICD10CM:F52.31" MONDO:0022858 "GARD:0001513" -MONDO:0014822 "15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." "Orphanet:261190 UMLS:C4225666 SCTID:719575008 ICD10:Q93.5 UMLS:C4305230 OMIM:616898" +MONDO:0014822 "15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." "Orphanet:261190 ICD10CM:Q93.5 UMLS:C4225666 SCTID:719575008 UMLS:C4305230 OMIM:616898" MONDO:0100006 "Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells." -MONDO:0006784 "A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver." "SCTID:12546009 ICD10:P53 MESH:D006475 NCIT:C111857 ICD9:776.0 EFO:1000964 MedDRA:10019601" +MONDO:8000030 "Orphanet:377791" +MONDO:0006784 "A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver." "SCTID:12546009 MESH:D006475 NCIT:C111857 ICD9:776.0 EFO:1000964 ICD10CM:P53 MedDRA:10019601" MONDO:0006767 "Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding." "MedDRA:10051585 EFO:1000945 GARD:0007877 DOID:2493 MESH:D020252 SCTID:43935004 NCIT:C84724" HP:0001894 "Increased numbers of platelets in the peripheral blood." "UMLS:C0857460 MSH:D013922 SNOMEDCT_US:415115007 SNOMEDCT_US:6631009 UMLS:C0836924" -MONDO:0012414 "A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "DOID:0110725 Orphanet:79264 Orphanet:228337 SCTID:720831008 MESH:C566438 Orphanet:168486 ICD10:E75.4 Orphanet:79262 Orphanet:168491 OMIM:610127 GARD:0001218" -MONDO:0021095 "A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA." "MESH:D020734" +MONDO:0012414 "A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "DOID:0110725 Orphanet:79264 Orphanet:228337 SCTID:720831008 MESH:C566438 Orphanet:168486 Orphanet:79262 Orphanet:168491 OMIM:610127 ICD10CM:E75.4 GARD:0001218" +MONDO:0021095 "A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA." "MESH:D020734 ICD10CM:G20-G26" MONDO:0011295 "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32." "OMIM:603176 DOID:0070083" GO:0045581 "Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation." http://identifiers.org/hgnc/21308 @@ -20108,29 +20102,28 @@ http://identifiers.org/hgnc/1971 HP:0002160 "An increased concentration of homocystine in the blood." "UMLS:C3806347" MONDO:0021490 "A benign neoplasm that involves the sebaceous gland." "NCIT:C8525 UMLS:C0684358 SCTID:92337009" MONDO:0012466 "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene." "OMIM:610297 MESH:C565204 Orphanet:2828" -MONDO:0002136 "DOID:1893 ICD9:373.31 SCTID:36259009 ICD10:H01.13 UMLS:C0155177" +MONDO:0002136 "DOID:1893 ICD9:373.31 SCTID:36259009 UMLS:C0155177" MONDO:0023388 "Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda." "UMLS:C0343060 SCTID:238639005 GARD:0010904" GO:0002785 "Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide production." MONDO:0003731 "A mature or immature teratoma affecting the central nervous system and occurring in adults." "UMLS:C1370506 NCIT:C5794 DOID:6015" MONDO:0008600 "A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58)." "UMLS:C0158328 SCTID:42786005 OMIM:190410 GARD:0008484 MESH:D052582" -MONDO:0007311 "A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients." "GARD:0009190 OMIM:118300 Orphanet:90658 ICD10:G60.0 UMLS:C2931686 MESH:C537986 DOID:0110153" +MONDO:0007311 "A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients." "ICD10CM:G60.0 GARD:0009190 OMIM:118300 Orphanet:90658 UMLS:C2931686 MESH:C537986 DOID:0110153" MONDO:0022857 GO:1903828 "Any process that stops, prevents or reduces the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell." MONDO:0007291 MONDO:0022855 "GARD:0001508" -MONDO:0018003 "Orphanet:329341 ICD10:G13.1" -MONDO:0002266 "An extrinsic allergic alveolitis caused by infection with Aspergillus." "ICD9:495.4 ICD10:J67.4 SCTID:25897000 DOID:2314 UMLS:C0155888" +MONDO:0018003 "Orphanet:329341 ICD10CM:G13.1" +MONDO:0002266 "An extrinsic allergic alveolitis caused by infection with Aspergillus." "ICD9:495.4 SCTID:25897000 DOID:2314 UMLS:C0155888" GO:0003872 "Catalysis of the reaction: ATP + D-fructose-6-phosphate = ADP + D-fructose 1,6-bisphosphate." MONDO:0009022 "A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment." "MESH:D061085 SCTID:5102002 OMIM:217990 NCIT:C98905 GARD:0001535" MONDO:0005094 "An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces." "DOID:264 SCTID:134335004 NCIT:C3087 ICDO:9150/1 MESH:D006393" -MONDO:0003597 http://identifiers.org/hgnc/2073 MONDO:0024494 "A morphologic qualifier indicating that a cancerous lesion is undifferentiated." "NCIT:C28082" MONDO:0021658 "UMLS:C0002959 NCIT:C45481" MONDO:0000838 MONDO:0004798 CL:0000669 "An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. Pericytes are present in capillaries where proper adventitia and muscle layer are missing (thus distingushing this cell type from adventitial cells). They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells." "FMA:63174 BTO:0002441" -MONDO:0019167 "A systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement." "Orphanet:761 EFO:1000965 NCIT:C34963 MESH:D011695 GARD:0008204 ICD10:D69.0 SCTID:191306005 DOID:11123 ICD9:287.0 SCTID:86074002" +MONDO:0019167 "A systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement." "Orphanet:761 EFO:1000965 NCIT:C34963 MESH:D011695 GARD:0008204 ICD10CM:D69.0 SCTID:191306005 DOID:11123 ICD9:287.0 SCTID:86074002" http://identifiers.org/hgnc/1974 http://identifiers.org/hgnc/245 GO:0032104 "Any process that modulates the frequency, rate or extent of a response to an extracellular stimulus." @@ -20141,16 +20134,15 @@ MONDO:0007292 MONDO:0022856 MONDO:0022854 "GARD:0001507" CL:0002436 "A mature CD4-positive, CD8-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor." -MONDO:0020457 "Orphanet:99135 ICD10:D55.1" +MONDO:0020457 "Orphanet:99135 ICD10CM:D55.1" UBERON:0018239 GO:0062014 "Any process that stops, prevents or reduces the frequency, rate or extent of a small molecule metabolic process." -MONDO:0018004 "Orphanet:329469 ICD10:C94.2 UMLS:CN204216" -MONDO:0010327 "HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy." "MESH:C536080 GARD:0010716 Orphanet:391417 OMIM:300438 MESH:C564560 OMIM:300220 ICD10:E72.8 ICD10:G25.5 SCTID:791000124107 DOID:0060810 UMLS:CN204973 UMLS:C1846168" -MONDO:0019633 "Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex." "ICD10:A68.1 DOID:13034 ICD10:A68 SCTID:420079008 MedDRA:10038300 ICD9:087 Orphanet:91547 ICD9:087.9 ICD10:A68.9 ICD10:A68.0 MESH:D012061 UMLS:C0035021" +MONDO:0018004 "ICD10CM:C94.2 Orphanet:329469 UMLS:CN204216" +MONDO:0010327 "HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy." "MESH:C536080 GARD:0010716 Orphanet:391417 OMIM:300438 MESH:C564560 OMIM:300220 SCTID:791000124107 DOID:0060810 UMLS:CN204973 UMLS:C1846168 ICD10CM:G25.5 ICD10CM:E72.8" +MONDO:0019633 "Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex." "DOID:13034 ICD10CM:A68.0 SCTID:420079008 MedDRA:10038300 ICD9:087 ICD10CM:A68 Orphanet:91547 ICD9:087.9 ICD10CM:A68.1 MESH:D012061 ICD10CM:A68.9 UMLS:C0035021" CHEBI:30436 -MONDO:0700085 "A chromosomal anomaly consisting of the presence of three chromosomes of the same type in addition to the normal diploid number." MONDO:0021285 "A in situ carcinoma that involves the urethra." "SCTID:92784007 ICD9:233.9 NCIT:C4531 UMLS:C0346280" -MONDO:0044137 "Any disease affecting the vitreous body of the eye." "UMLS:C0155365 ICD9:379.29 SCTID:76682005 NCIT:C45256 EFO:0008624" +MONDO:0044137 "Any disease affecting the vitreous body of the eye." "UMLS:C0155365 ICD9:379.29 SCTID:76682005 ICD10CM:H43-H44 NCIT:C45256 EFO:0008624" NCBITaxon:621 "PMID:16561743 GC_ID:11" MONDO:0025351 "OMIM:301056" MONDO:0009689 "Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner." "SCTID:230670003 OMIM:254210 DOID:0110671 Orphanet:590 NCIT:C132292 UMLS:C0393929 ICD9:358.00 MESH:C535759 Orphanet:98914 GARD:0009689" @@ -20160,7 +20152,7 @@ FOODON:03411161 MONDO:0010854 "Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital." "UMLS:C1838329 SCTID:723554006 GARD:0010366 OMIM:600268 MESH:C563969 DOID:0111705 Orphanet:3339" MONDO:0000894 "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion." "DOID:0080185" MONDO:0044689 "Orphanet:499103" -MONDO:0020450 "Orphanet:99121 ICD10:Q26.8" +MONDO:0020450 "Orphanet:99121 ICD10CM:Q26.8" GO:0016126 "The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule." MONDO:0004380 "A sarcoma that involves the dendritic cell." "SCTID:446643000 DOID:7849 ONCOTREE:DCS NCIT:C27260" HP:0011843 "An abnormality of the function of the skeletal system." "UMLS:C4023164" @@ -20172,19 +20164,19 @@ GO:0048285 "The creation of two or more organelles by division of one organelle. MONDO:0008233 "Orphanet:29072 ONCOTREE:PHC DOID:0050771 OMIM:171300" MONDO:0011619 "GARD:0010078 MESH:C536217 OMIM:605945 UMLS:C1853826" http://identifiers.org/hgnc/243 -MONDO:0010879 "Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies." "UMLS:C1838180 OMIM:600373 GARD:0001418 Orphanet:1458 ICD10:Q87.8 NCIT:C126744 MESH:C536434 DOID:0111274 SCTID:717772000" +MONDO:0010879 "Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies." "ICD10CM:Q87.8 UMLS:C1838180 OMIM:600373 GARD:0001418 Orphanet:1458 NCIT:C126744 MESH:C536434 DOID:0111274 SCTID:717772000" http://identifiers.org/hgnc/21304 MONDO:0006369 "A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" "EFO:1000474 SCTID:715904005 ONCOTREE:PPTID GARD:0010644 NCIT:C6967 UMLS:C1367859 DOID:5030" http://identifiers.org/hgnc/7800 HP:0032245 "An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products." MONDO:0022968 "Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus." "GARD:0006268" -MONDO:0020451 "Orphanet:99122 ICD10:Q26.0 SCTID:62335009 ICD9:747.49" +MONDO:0020451 "ICD10CM:Q26.0 Orphanet:99122 SCTID:62335009 ICD9:747.49" MONDO:0044688 "Orphanet:499096" GO:0015980 "The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released." http://identifiers.org/hgnc/9364 MONDO:0000282 "A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations." "DOID:0050199" MONDO:0011320 "An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit." "UMLS:C1863881 Orphanet:3268 GARD:0000394 OMIM:603438" -MONDO:0000755 "An abnormal pregnancy in which the conception is implanted outside the endometrial cavity." "ICD9:633 MESH:D011271 ICD9:633.8 DOID:0060329 GARD:0006318 NCIT:C34945 SCTID:34801009 ICD10:O00.9 ICD9:633.90 ICD9:633.9 ICD10:O00" +MONDO:0000755 "An abnormal pregnancy in which the conception is implanted outside the endometrial cavity." "ICD9:633 MESH:D011271 ICD9:633.8 DOID:0060329 GARD:0006318 NCIT:C34945 SCTID:34801009 ICD9:633.90 ICD9:633.9 ICD10CM:O00-O08" http://identifiers.org/hgnc/14203 MONDO:0008498 "OMIM:185100 UMLS:C1861449" MONDO:0008232 "UMLS:C1868402 OMIM:171100 MESH:C566808" @@ -20200,36 +20192,36 @@ MONDO:0007038 "OMIM:100820 MESH:C535300 GARD:0010036 EFO:0007887 UMLS:C1863416" MONDO:0000487 "A multifocal dystonia that involves the arm and leg on the same side of the body." "ICD9:333.99 UMLS:C1960561 SCTID:427232004 DOID:0050846" http://identifiers.org/hgnc/20105 MONDO:0044687 "Orphanet:499085" -MONDO:0020452 "ICD10:Q26.8 Orphanet:99123 ICD9:747.49 SCTID:93031005" +MONDO:0020452 "Orphanet:99123 ICD10CM:Q26.8 ICD9:747.49 SCTID:93031005" MONDO:0009695 "UMLS:C1850779 OMIM:254700 MESH:C564977" http://identifiers.org/hgnc/21307 -MONDO:0009509 "Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS." "UMLS:C3806403 Orphanet:1945 EFO:1001010 DOID:2538 MESH:D018887 ICD10:G40.8 Orphanet:725 Orphanet:98818 Orphanet:163721 MedDRA:10052083 UMLS:C0282512 OMIM:245570 SCTID:230438007 NCIT:C84806 GARD:0006855 MedDRA:10052075" +MONDO:0009509 "Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS." "UMLS:C3806403 Orphanet:1945 EFO:1001010 DOID:2538 MESH:D018887 Orphanet:725 Orphanet:98818 Orphanet:163721 MedDRA:10052083 UMLS:C0282512 OMIM:245570 SCTID:230438007 NCIT:C84806 GARD:0006855 MedDRA:10052075" http://identifiers.org/hgnc/6601 -CL:0000018 "A male germ cell that develops from the haploid secondary spermatocytes. Without further division, spermatids undergo structural changes and give rise to spermatozoa." "BTO:0001274 FMA:72294 EMAPA:31486 FBbt:00004942 WBbt:0006800 CALOHA:TS-0950" +CL:0000018 "A male germ cell that develops from the haploid secondary spermatocytes. Without further division, spermatids undergo structural changes and give rise to spermatozoa." "BTO:0001274 EMAPA:31486 FMA:72294 FBbt:00004942 WBbt:0006800 CALOHA:TS-0950" MONDO:0018093 "Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed." "GARD:0000432 UMLS:CN227261 Orphanet:344" UBERON:5002389 -MONDO:0007711 "Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." "MESH:C564199 SCTID:733046006 UMLS:C1841640 GARD:0002633 ICD10:Q67.4 Orphanet:1241 OMIM:141350" -MONDO:0003627 "A rheumatologic disorder that involves the pulmonary valve." "ICD10:I09.89 ICD9:397.1 DOID:5748 SCTID:18687009 UMLS:C0155579" +MONDO:0007711 "Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." "MESH:C564199 SCTID:733046006 UMLS:C1841640 GARD:0002633 ICD10CM:Q67.4 Orphanet:1241 OMIM:141350" +MONDO:0003627 "A rheumatologic disorder that involves the pulmonary valve." "ICD9:397.1 DOID:5748 SCTID:18687009 UMLS:C0155579" CL:0001008 "A hematopoietic stem cell that has plasma membrane part Kit-positive, SCA-1-positive, CD150-positive and CD34-negative." NCBITaxon:35325 "GC_ID:1" -MONDO:0002428 "An infection that is caused by protozoans." "DOID:2789 ICD10:B64 ICD10:B50-B64 NCIT:C34953 MESH:D011528" -MONDO:0013547 "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene." "OMIM:614053 ICD10:E88.8 DOID:0060332 UMLS:C3279708 Orphanet:254913" +MONDO:0002428 "An infection that is caused by protozoans." "DOID:2789 ICD10CM:B50-B64 NCIT:C34953 MESH:D011528" +MONDO:0013547 "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene." "OMIM:614053 DOID:0060332 UMLS:C3279708 Orphanet:254913" MONDO:0020601 "Viral encephalitis that is transmitted by mosquitos." "NCIT:C34823" MONDO:0004554 "An angiomyolipoma occurring in childhood." "UMLS:C1333000 NCIT:C6565 DOID:8410" MONDO:0044987 "A disease or disorder that involves the face." "SCTID:118930001 UMLS:C1290857" -MONDO:0014115 "Orphanet:363412 UMLS:C3809008 ICD10:E75.2 OMIM:615281" +MONDO:0014115 "Orphanet:363412 ICD10CM:E75.2 UMLS:C3809008 OMIM:615281" http://identifiers.org/hgnc/19380 MONDO:0023693 "A maple syrup urine disease caused by mutations in DBT." "GARD:0008596 HGNC:2698" UBERON:0018235 MONDO:0008230 "OMIM:170990" NCBITaxon:40005 "GC_ID:1" -MONDO:0005266 "A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness." "DOID:8947 ICD9:362.0 UMLS:C0011884 OMIM:603933 MESH:D003930 OMIM:612635 OMIM:612623 SCTID:4855003 EFO:0003770 NCIT:C34538 OMIM:612633 ICD10:H36.0" +MONDO:0005266 "A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness." "DOID:8947 ICD9:362.0 UMLS:C0011884 OMIM:603933 MESH:D003930 OMIM:612635 OMIM:612623 SCTID:4855003 EFO:0003770 NCIT:C34538 OMIM:612633" GO:0031944 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids." CL:0001033 "Granule cell that is part of the hippocampus." MONDO:0025061 "An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema." "UMLS:C0013605 MESH:D004488" MONDO:0100376 "Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)" "NCIT:C36370" MONDO:0008496 "GARD:0005035 UMLS:C1861452 OMIM:185069 MESH:C566109" -MONDO:0009694 "UMLS:C0398595 OMIM:254600 Orphanet:2587 ICD9:288.8 GARD:0003868 SCTID:234433009 MESH:C562864 ICD10:E80.3" +MONDO:0009694 "UMLS:C0398595 OMIM:254600 Orphanet:2587 ICD9:288.8 ICD10CM:E80.3 GARD:0003868 SCTID:234433009 MESH:C562864" MONDO:0014847 "Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene." "OMIM:616950 DOID:0070172 UMLS:C4310779" http://identifiers.org/hgnc/17800 MONDO:0044685 "Orphanet:499047" @@ -20238,19 +20230,19 @@ UBERON:0030276 CHEBI:63551 "A carboxylic acid anion resulting from the deprotonation of the carboxy group of a carbohydrate acid derivative." MONDO:0003863 "A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin." "SCTID:404039004 ICD9:171.9 NCIT:C4748 DOID:6345 UMLS:C0474847" MONDO:0000802 "OBSOLETE. A allergic disease involving a Indian prawn." "DOID:0060527" -MONDO:0015755 "Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus." "SCTID:764994007 Orphanet:171889 ICD10:G71.2" +MONDO:0015755 "Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus." "SCTID:764994007 ICD10CM:G71.2 Orphanet:171889" http://identifiers.org/hgnc/5401 -MONDO:0013956 "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." "ICD10:D84.8 UMLS:C4013950 OMIM:614892 Orphanet:319595" +MONDO:0013956 "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." "UMLS:C4013950 OMIM:614892 Orphanet:319595 ICD10CM:D84.8" MONDO:0009206 "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene." "UMLS:C1856883 SCTID:84048006 OMIM:227300 Orphanet:35909" -MONDO:0016281 "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." "SCTID:18978002 MESH:D050090 UMLS:C2748895 NCIT:C127167 Orphanet:2138 ICD10:Q56.0 OMIM:400045 UMLS:CN776920" +MONDO:0016281 "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." "SCTID:18978002 MESH:D050090 ICD10CM:Q56.0 UMLS:C2748895 NCIT:C127167 Orphanet:2138 OMIM:400045 UMLS:CN776920" MONDO:0044684 "SCTID:58437007 Orphanet:499004" -MONDO:0003122 "A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements." "ICD9:333.0 OMIM:500003 NCIT:C125695 SCTID:29618004 OMIM:609161 ICD10:G23.2 OMIMPS:271930 UMLS:C0270733 MESH:D020955 OMIM:271930 DOID:4751" +MONDO:0003122 "A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements." "ICD10CM:G23.2 ICD9:333.0 OMIM:500003 NCIT:C125695 SCTID:29618004 OMIM:609161 OMIMPS:271930 UMLS:C0270733 MESH:D020955 OMIM:271930 DOID:4751" MONDO:0005735 MONDO:0044212 "Chronic form of idiopathic urticaria." "UMLS:C0578870 SCTID:302162004" -MONDO:0010407 "An X-linked syndromic intellectual disability characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant." "OMIM:300612 DOID:0060829 DOID:0060811 UMLS:C0796272 Orphanet:85328 MESH:C567476 SCTID:725912001 UMLS:C2678046 MESH:C563154 OMIM:300706 GARD:0005604 OMIM:309590 ICD10:Q87.8 Orphanet:3056 GARD:0005610" +MONDO:0010407 "An X-linked syndromic intellectual disability characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant." "OMIM:300612 DOID:0060829 DOID:0060811 UMLS:C0796272 Orphanet:85328 MESH:C567476 SCTID:725912001 UMLS:C2678046 MESH:C563154 ICD10CM:Q87.8 OMIM:300706 GARD:0005604 OMIM:309590 Orphanet:3056 GARD:0005610" MONDO:0000211 "An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." "OMIMPS:609161 Orphanet:228169 UMLS:C1836694 MESH:C563783" GO:0090407 "The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose." -MONDO:0013341 "Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported." "UMLS:C3150900 DOID:0060741 OMIM:613646 Orphanet:280183 ICD10:E71.1" +MONDO:0013341 "Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported." "UMLS:C3150900 DOID:0060741 OMIM:613646 Orphanet:280183 ICD10CM:E71.1" ECTO:9000266 MONDO:0008236 "OMIM:171450 UMLS:C1868391 MESH:C566806" MONDO:0011896 "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the GIGYF2 gene." "UMLS:C1843211 MESH:C564345 OMIM:607688 Orphanet:411602" @@ -20265,9 +20257,9 @@ MONDO:0003339 MONDO:0044683 "Orphanet:498700" MONDO:0006173 "A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain." "SCTID:255003007 NCIT:C4549 EFO:1000206 UMLS:C0346359 DOID:1748" GO:0045061 "The process of T cell selection that occurs in the thymus." -MONDO:0014118 "ICD10:D70 OMIM:615285 UMLS:C3809031 Orphanet:369852" +MONDO:0014118 "OMIM:615285 UMLS:C3809031 ICD10CM:D70 Orphanet:369852" MONDO:0002633 "Abnormal growth of the cells that comprise the cranial nerves." "UMLS:C0010267 DOID:338 MESH:D003390 ICD9:239.7 SCTID:126966009 NCIT:C2963" -MONDO:0017984 "Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure." "UMLS:CN204142 ICD10:Q75.0 OMIM:600775 SCTID:766884000 Orphanet:3267 GARD:0003168" +MONDO:0017984 "Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure." "UMLS:CN204142 OMIM:600775 SCTID:766884000 Orphanet:3267 ICD10CM:Q75.0 GARD:0003168" UBERON:0018232 CHR:9606-chr14q32 MONDO:0012037 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene." "MESH:C563929 Orphanet:88616 UMLS:C1838023 OMIM:608443" @@ -20276,8 +20268,8 @@ GO:0015739 "The directed movement of sialic acid into, out of or within a cell, MONDO:0003549 "An adenosquamous carcinoma that arises from the bile ducts." "NCIT:C5778 DOID:5624 UMLS:C0861854" MONDO:0008431 "A developmental deformity in which the metaphysis of the femur moves proximally and anteriorly away from femur head (epiphysis) at the upper growth plate. It is most common in male adolescents and is associated with a greater risk of early osteoarthritis of the hip." "UMLS:C0149887 OMIM:182260 MESH:D060048" UBERON:0014538 -MONDO:0014119 "Orphanet:363528 OMIM:615286 UMLS:C3809039 ICD10:H50.8" -MONDO:0013327 "Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." "DOID:0111672 SCTID:734990008 Orphanet:416 UMLS:C3150878 OMIM:613616 Orphanet:93600 ICD10:E74.8 GARD:0010738 NCIT:C123214" +MONDO:0014119 "Orphanet:363528 OMIM:615286 UMLS:C3809039 ICD10CM:H50.8" +MONDO:0013327 "Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." "DOID:0111672 SCTID:734990008 Orphanet:416 UMLS:C3150878 OMIM:613616 Orphanet:93600 GARD:0010738 NCIT:C123214 ICD10CM:E74.8" MONDO:0100073 "Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins." MONDO:0044682 "Orphanet:498693" http://identifiers.org/hgnc/18169 @@ -20285,7 +20277,7 @@ MONDO:0008560 "A hemostatic disorder characterized by a poor anticoagulant respo MONDO:0021484 "A benign neoplasm that involves the maxillary sinus." "ICD9:212.0 SCTID:92211008 UMLS:C0345666 NCIT:C4414" HP:0040088 "Any abnormality in the total number of lymphocytes in the blood." "UMLS:C0580550 SNOMEDCT_US:165534000" CHEBI:37734 -MONDO:0017291 "Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries." "UMLS:C3544214 SCTID:700467001 GARD:0012768 ICD9:437.8 Orphanet:284388 ICD10:I67.8" +MONDO:0017291 "Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries." "UMLS:C3544214 SCTID:700467001 GARD:0012768 ICD10CM:I67.8 ICD9:437.8 Orphanet:284388" MONDO:0009432 "OMIM:241540 MESH:C565477 UMLS:C1855800" NCBITaxon:629 "GC_ID:11" CL:0002306 "An epithelial cell of the proximal tubule of the kidney." "FMA:70973 KUPO:0001044 FMA:62125" @@ -20293,32 +20285,32 @@ CL:1000487 "A smooth muscle cell that is part of the prostate gland." "FMA:84583 CL:0000103 "A type of interneuron that has two neurites, usually an axon and a dendrite, extending from opposite poles of an ovoid cell body." "FMA:67282" GO:1903961 "Any process that activates or increases the frequency, rate or extent of anion transmembrane transport." MONDO:0016999 "Orphanet:263714" -MONDO:0001281 "A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction." "ICD10:H50.15 DOID:1142 UMLS:C0152207 ICD9:378.15 SCTID:37214009 MESH:D005099" +MONDO:0001281 "A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction." "DOID:1142 UMLS:C0152207 ICD9:378.15 SCTID:37214009 MESH:D005099 ICD10CM:H50.15" MONDO:0012251 "MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia)." "OMIM:609313 SCTID:722035007 Orphanet:171851 DOID:0060483 UMLS:CN229776 MESH:C563739 UMLS:C1836330" MONDO:0000630 "A benign neoplasm that involves the immune organ." "DOID:0060092" GO:0010829 "Any process that decreases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." -MONDO:0010950 "A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27." "ICD10:E10 UMLS:C1833218 MESH:C563433 OMIM:600883 DOID:0110747" -MONDO:0010962 "A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis." "Orphanet:530838 Orphanet:496 GARD:0005186 OMIM:600962" +MONDO:0010950 "A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27." "UMLS:C1833218 MESH:C563433 OMIM:600883 DOID:0110747" +MONDO:0010962 "A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis." "EFO:1000743 SCTID:400123002 UMLS:C0022584 ICD10CM:Q82.8 OMIM:615735 Orphanet:496 Orphanet:530838 DOID:0050428 GARD:0005186 OMIM:613000 OMIM:600962 OMIM:600231 SCTID:716105001" http://identifiers.org/hgnc/4236 UBERON:0009878 CHR:9606-chr10q MONDO:0004064 "A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi." "NCIT:C9088 DOID:6994 UMLS:CN204945 SCTID:255012009" -MONDO:0017097 "Orphanet:268980 ICD10:Q04.8 UMLS:CN202454" +MONDO:0017097 "Orphanet:268980 ICD10CM:Q04.8 UMLS:CN202454" MONDO:0019492 -MONDO:0015535 "UMLS:C0043322 SCTID:399970005 MedDRA:10052575 GARD:0013186 ICD10:D76.3 Orphanet:158003" +MONDO:0015535 "UMLS:C0043322 SCTID:399970005 MedDRA:10052575 GARD:0013186 ICD10CM:D76.3 Orphanet:158003" GO:1900393 MONDO:0016374 "A neuralgia that involves the cranial neuron projection bundle." "UMLS:C0010269 Orphanet:221109 SCTID:23096007" -MONDO:0012198 "Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterized by the association of the features of WSS (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy." "DOID:0090111 ICD10:E75.2 Orphanet:163746 OMIM:609136 MESH:C563789 UMLS:CN239463 UMLS:C1836727" +MONDO:0012198 "Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterized by the association of the features of WSS (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy." "DOID:0090111 ICD10CM:E75.2 Orphanet:163746 OMIM:609136 MESH:C563789 UMLS:CN239463 UMLS:C1836727" MONDO:0018411 "OBSOLETE. An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." "UMLS:CN227354 Orphanet:400011" ECTO:7000018 "A exposure event involving the interaction of an exposure receptor to rock." -MONDO:0011195 "A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner." "Orphanet:231169 DOID:0110833 OMIM:602097 GARD:0005439 UMLS:C1865865 Orphanet:886 ICD10:H35.5" -MONDO:0017930 "ICD10:M85.8 Orphanet:324364" +MONDO:0011195 "A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner." "Orphanet:231169 DOID:0110833 OMIM:602097 GARD:0005439 UMLS:C1865865 Orphanet:886" +MONDO:0017930 "Orphanet:324364 ICD10CM:M85.8" MONDO:0018295 "Orphanet:371212" MONDO:0009403 "MESH:C538386 OMIM:239711 GARD:0002848 UMLS:C1855903" -MONDO:0014212 "A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23." "ICD10:E72.1 Orphanet:833 DOID:0111166 Orphanet:99732 Orphanet:308400 OMIM:615501 MESH:C565374 UMLS:C1854990 PMID:11095995" +MONDO:0014212 "A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23." "Orphanet:833 DOID:0111166 Orphanet:99732 Orphanet:308400 OMIM:615501 ICD10CM:E72.1 MESH:C565374 UMLS:C1854990 PMID:11095995" http://identifiers.org/hgnc/19100 MONDO:0016998 "Orphanet:263708" -MONDO:0017094 "Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay." "MESH:D054220 NCIT:C42088 SCTID:253153000 Orphanet:268950 ICD10:Q04.8" +MONDO:0017094 "Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay." "MESH:D054220 NCIT:C42088 SCTID:253153000 ICD10CM:Q04.8 Orphanet:268950" MONDO:0016732 UBERON:0009879 MONDO:0011851 "Orphanet:569 MESH:C564385 OMIM:607516" @@ -20329,7 +20321,7 @@ GO:0009179 "The chemical reactions and pathways involving purine ribonucleoside MONDO:0023368 "Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet" "UMLS:C2931819 MESH:C538325 GARD:0001266" http://identifiers.org/hgnc/12926 HP:0002269 "An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain." "MSH:D054081 UMLS:C1837249" -MONDO:0017098 "Orphanet:268987 UMLS:CN202455 ICD10:Q04.8" +MONDO:0017098 "Orphanet:268987 ICD10CM:Q04.8 UMLS:CN202455" GO:0016791 "Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate." MONDO:0008204 "MESH:C536307 OMIM:168850" GO:0048582 "Any process that activates or increases the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure." @@ -20338,32 +20330,32 @@ UBERON:0036351 CL:1000449 "An epithelial cell that is part of the nephron." "FMA:70965" UBERON:0014547 http://identifiers.org/hgnc/11727 -MONDO:0018296 "ICD10:E77.8 GARD:0012782 Orphanet:371235" +MONDO:0018296 "GARD:0012782 Orphanet:371235 ICD10CM:E77.8" GO:2000531 "OBSOLETE. Any process that modulates the frequency, rate or extent of the biosynthesis of fatty acids, by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter." GO:0003039 "The process in which information about the levels of oxygen are received and are converted to a molecular signal by chemoreceptors in a carotid body." -MONDO:0010657 "OMIM:309541 GARD:0013137 UMLS:C0796208 ICD10:E71.1 MESH:C563136 Orphanet:369962" +MONDO:0010657 "ICD10CM:E71.1 OMIM:309541 GARD:0013137 UMLS:C0796208 MESH:C563136 Orphanet:369962" MONDO:0016997 "Orphanet:263676" UBERON:2007013 UBERON:0009610 GO:0003105 "Any process that stops, prevents, or reduces the frequency, rate or extent of glomerular filtration. Glomerular filtration is the processs whereby blood is filtered by the glomerulus into the renal tubule." -MONDO:0020480 "Orphanet:99732 OMIM:252150 OMIM:615501 OMIM:252160 OMIMPS:252150 ICD10:E72.1 DOID:0111165 GARD:0003705" +MONDO:0020480 "ICD10CM:E72.1 Orphanet:99732 OMIM:252150 OMIM:615501 OMIM:252160 OMIMPS:252150 DOID:0111165 GARD:0003705" MONDO:0000647 "A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus." "UMLS:C0154002 NCIT:C3610 DOID:0060114 SCTID:92473001 ICD9:221.1" -MONDO:0017095 "UMLS:CN202452 Orphanet:268961 ICD10:Q04.8" +MONDO:0017095 "UMLS:CN202452 ICD10CM:Q04.8 Orphanet:268961" UBERON:0010842 MONDO:0011854 "MESH:C564382 UMLS:C1843757 OMIM:607540" http://identifiers.org/hgnc/4238 -MONDO:0003150 "A disease involving the male reproductive system." "ICD10:N40.N51 SCTID:363194005 ICD10:N50.9 MESH:D005832 ICD9:600-608.99 NCIT:C27019 DOID:48 ICD9:608.9" -MONDO:0011266 "Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders." "DOID:0050759 OMIM:602668 NCIT:C84680 Orphanet:606 ICD10:G71.19 ICD10:G71.1 ICD9:359.2 GARD:0009728" +MONDO:0003150 "A disease involving the male reproductive system." "ICD10CM:N40-N51 ICD10CM:N40-N53 SCTID:363194005 MESH:D005832 ICD9:600-608.99 NCIT:C27019 DOID:48 ICD9:608.9" +MONDO:0011266 "Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders." "OMIM:602668 DOID:0050759 NCIT:C84680 Orphanet:606 ICD10CM:G71.1 ICD9:359.2 GARD:0009728" MONDO:0006929 "Infections with bacteria of the genus proteus." "UMLS:C0033700 MESH:D011512 EFO:1001130 SCTID:186437007" NBO:0000327 "\"Behavior related to the sensations arising from the skin and from the muscles, tendons, and joints.\" [OBP:GVG]" MONDO:0008203 "UMLS:C3149707 OMIM:168830" -MONDO:0015533 "ICD9:216.8 UMLS:C0347403 ICD10:D76.3 Orphanet:157997 SCTID:255192005" +MONDO:0015533 "ICD9:216.8 UMLS:C0347403 ICD10CM:D76.3 Orphanet:157997 SCTID:255192005" ENVO:09200012 "The temperature of some soil." MONDO:0100279 "Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene." MONDO:0044745 "Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures." "SCTID:128239009 MESH:D020196" CL:1000329 "A goblet cell that is part of the epithelium of trachea." "FMA:263075" GO:0015872 "The directed movement of dopamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Dopamine is a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline." -MONDO:0018293 "ICD10:E77.8 Orphanet:371200" +MONDO:0018293 "ICD10CM:E77.8 Orphanet:371200" MONDO:0000787 "OBSOLETE. A allergy involving a Solanum lycopersicum." "DOID:0060512" MONDO:0002237 "An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration." "ICD9:680.9 ICD9:680.8 DOID:2176 MESH:D002270 EFO:1000674 SCTID:416893007 UMLS:C0007078" http://identifiers.org/hgnc/15685 @@ -20376,14 +20368,14 @@ UBERON:0009877 MONDO:0044995 "A disease or disorder that involves the parasympathetic nervous system." "SCTID:46091002" UBERON:0010843 MONDO:0044690 "Orphanet:499107 SCTID:713417000 UMLS:C4076165" -MONDO:0017096 "UMLS:CN202453 Orphanet:268973 ICD10:Q04.8" +MONDO:0017096 "UMLS:CN202453 Orphanet:268973 ICD10CM:Q04.8" MONDO:0011853 "OMIM:607539 UMLS:C1843758 MESH:C564383" -MONDO:0011071 "The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes." "SCTID:725034002 Orphanet:71290 MESH:C563324 OMIM:616216 GARD:0010352 UMLS:C1832388 ICD10:D69.4" +MONDO:0011071 "The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes." "SCTID:725034002 Orphanet:71290 MESH:C563324 OMIM:616216 GARD:0010352 UMLS:C1832388 ICD10CM:D69.4" GO:0045778 "Any process that activates or increases the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance." GO:0006555 "The chemical reactions and pathways involving methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins." MONDO:0008468 "UMLS:C1866738 DOID:0080604 OMIM:183840" http://identifiers.org/hgnc/10526 -MONDO:0004846 "Vaginal bleeding preceding the 20th week of gestation." "DOID:9667 HP:0011419 ICD9:640.03 NCIT:C26685 ICD9:641.20 SCTID:415105001 NCIT:C112857 MESH:D000037 ICD9:640.0 EFO:1001754 ICD10:O20.0" +MONDO:0004846 "Vaginal bleeding preceding the 20th week of gestation." "DOID:9667 HP:0011419 ICD9:640.03 NCIT:C26685 ICD9:641.20 SCTID:415105001 NCIT:C112857 MESH:D000037 ICD9:640.0 EFO:1001754" MONDO:0008202 "MESH:C566821 UMLS:C1868590 OMIM:168800" MONDO:0022293 "A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma." "NCIT:C35218 MEDGEN:102349 SCTID:198029003 ICD9:607.82 UMLS:C0156307" MONDO:0004375 "Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min." "DOID:783 NCIT:C9439 ICD9:585.6 SCTID:46177005" @@ -20391,59 +20383,59 @@ MONDO:0010495 "Any nonphotosensitive trichothiodystrophy in which the cause of t MONDO:0003700 "A neoplasm (disease) that involves the brachial nerve plexus." "UMLS:C1332602 DOID:5913 NCIT:C5823" CL:0002344 "A natural killer cell that is developmentally immature, has the phenotype CD34-negative, CD56-negative, CD117-positive, CD122-positive,and CD161-positive." MONDO:0013151 "UMLS:C2751055 MESH:C567729 OMIM:613144 Orphanet:75377" -MONDO:0015532 "SCTID:110980006 UMLS:C0347404 Orphanet:157991 ICD10:D76.3" +MONDO:0015532 "SCTID:110980006 UMLS:C0347404 Orphanet:157991 ICD10CM:D76.3" NCBITaxon:216275 "GC_ID:1" MONDO:0014207 "An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21." "DOID:0110026 OMIM:615489" MONDO:0018294 "Orphanet:371207" -MONDO:0001040 "An inflammatory process that affects the nasopharynx." "SCTID:47841006 NCIT:C34837 UMLS:C0027441 MESH:D009304 UMLS:C0155826 ICD10:J31.1 DOID:10460 ICD9:472.2 ICD10:J00" +MONDO:0001040 "An inflammatory process that affects the nasopharynx." "SCTID:47841006 NCIT:C34837 UMLS:C0027441 MESH:D009304 UMLS:C0155826 DOID:10460 ICD9:472.2" MONDO:0033668 "OMIM:619086" MONDO:0005050 "An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive." "NCIT:C7688 EFO:0000552 UMLS:C1334277 ICDO:8522/3" http://identifiers.org/hgnc/37234 -MONDO:0012662 "Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene." "Orphanet:231178 ICD10:H35.5 OMIM:611383 DOID:0110840 Orphanet:886" +MONDO:0012662 "Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene." "Orphanet:231178 OMIM:611383 DOID:0110840 Orphanet:886" MONDO:0003591 "A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis." "NCIT:C6185 UMLS:C1335745 DOID:5699" UBERON:0009616 NCBITaxon:51025 "GC_ID:1" -MONDO:0004612 "Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells." "ICDO:9750/3 DOID:8580 DOID:2570 NCIT:C7202 ICD10:C96.1 UMLS:C0019623 SCTID:118612006 MESH:D015620 ICD9:202.3 EFO:1001499 ICD10:C96.A" +MONDO:0004612 "Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells." "ICDO:9750/3 DOID:8580 DOID:2570 NCIT:C7202 UMLS:C0019623 SCTID:118612006 MESH:D015620 ICD9:202.3 EFO:1001499" MONDO:0044349 "An instance of hemoglobinopathy that is acquired during the lifetime of the individual." "UMLS:C1263995 SCTID:127039000" CL:1001592 "Glandular cell of gall bladder epithelium." "CALOHA:TS-1278" UBERON:0010844 MONDO:0004325 "A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells." "NCIT:C39952 DOID:7676 UMLS:C1515299" GO:0004555 "Catalysis of the reaction: alpha,alpha-trehalose + H2O = 2 D-glucose." MONDO:0009407 "OMIM:239900 UMLS:C1855885 MESH:C565490" -MONDO:0018484 "Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms." "DOID:0080193 GARD:0010993 Orphanet:420402 ICD10:H83.8 SCTID:717799003" -MONDO:0013516 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene." "OMIM:613983 UMLS:C3151434 ICD10:H35.5 DOID:0110411" +MONDO:0018484 "Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms." "DOID:0080193 GARD:0010993 ICD10CM:H83.8 Orphanet:420402 SCTID:717799003" +MONDO:0013516 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene." "OMIM:613983 UMLS:C3151434 DOID:0110411" GO:0014706 "The process whose specific outcome is the progression of a striated muscle over time, from its formation to the mature structure. Striated muscle contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. Skeletal muscle myoblasts fuse to form myotubes and eventually multinucleated muscle fibers. The fusion of cardiac cells is very rare and can only form binucleate cells." CL:0002569 "A mesenchymal stem cell of the umbilical cord." -MONDO:0018291 "ICD10:E77.8 Orphanet:371188" +MONDO:0018291 "Orphanet:371188 ICD10CM:E77.8" CHEBI:37578 "Any heteroatomic molecular entity that is a chemical compound of halogen with other chemical elements." MONDO:0030909 "DOID:0080242 UMLS:CN679647 OMIM:301008" MONDO:0013152 "OMIM:613145" MONDO:0013818 "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene." "Orphanet:84064 OMIM:614602 DOID:0111416 UMLS:C3281289" UBERON:0014542 -MONDO:0013272 "14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." "UMLS:C4304999 Orphanet:261120 OMIM:613457 SCTID:719047001 ICD10:Q93.5 DOID:0060392 UMLS:C3150707" +MONDO:0013272 "14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism." "UMLS:C4304999 Orphanet:261120 OMIM:613457 SCTID:719047001 ICD10CM:Q93.5 DOID:0060392 UMLS:C3150707" MONDO:0031008 "OMIM:619263" MONDO:0033669 "OMIM:619087" -MONDO:0002337 "A hemangioma arising from organs within the abdominal cavity." "UMLS:C0154052 SCTID:189197001 ICD9:228.04 DOID:254 ICD10:D18.03 NCIT:C3635" +MONDO:0002337 "A hemangioma arising from organs within the abdominal cavity." "ICD10CM:D18.03 UMLS:C0154052 SCTID:189197001 ICD9:228.04 DOID:254 NCIT:C3635" MONDO:0033667 "OMIM:619083" PATO:0001411 "A structural quality inhering in a bearer by virtue of the bearer's having distinct structure." MONDO:0024686 "A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion." "ONCOTREE:TGCT ICDO:9251/0 NCIT:C3401" MONDO:0005099 "Intracranial hemorrhage into the subarachnoid space." "SCTID:21454007 EFO:0000713 UMLS:C0038525 ICD9:430 HP:0002138 MESH:D013345 NCIT:C50757" UBERON:0009617 -MONDO:0011856 "MESH:C535791 OMIM:607543 UMLS:C1843706 Orphanet:168552 ICD10:Q77.8 GARD:0008719" +MONDO:0011856 "MESH:C535791 OMIM:607543 ICD10CM:Q77.8 UMLS:C1843706 Orphanet:168552 GARD:0008719" http://identifiers.org/hgnc/18183 -MONDO:0018292 "ICD10:E77.8 Orphanet:371195" +MONDO:0018292 "Orphanet:371195 ICD10CM:E77.8" ENVO:01001211 "An electromagnetic radiation process during which electromagnetic waves or their quanta are emitted from a star." ECTO:0000657 "An exposure to disinfectant." MONDO:0008208 "UMLS:C1868575 OMIM:169000 MESH:C566816" MONDO:0031009 "OMIM:619267" UBERON:0014543 -MONDO:0012056 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene." "DOID:0110005 OMIM:608553 Orphanet:65 ICD10:H35.5 MESH:C536603 GARD:0009491" +MONDO:0012056 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene." "DOID:0110005 OMIM:608553 Orphanet:65 MESH:C536603 GARD:0009491" GO:0031401 "Any process that activates or increases the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein." UBERON:0010846 -MONDO:0012475 "Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation." "OMIM:610356 SCTID:719455002 ICD10:H35.5 UMLS:C4304714 UMLS:C1835897 Orphanet:209932 MESH:C563678 GARD:0010649" +MONDO:0012475 "Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation." "OMIM:610356 SCTID:719455002 ICD10CM:H35.5 UMLS:C4304714 UMLS:C1835897 Orphanet:209932 MESH:C563678 GARD:0010649" UBERON:0009614 -MONDO:0011977 "The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." "Orphanet:178303 GARD:0004722 UMLS:C1842464 MESH:C536110 OMIM:608156 ICD10:Q93.5 SCTID:719664004" -MONDO:0016993 "UMLS:CN202307 ICD10:Q80.8 Orphanet:263558" +MONDO:0011977 "The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." "Orphanet:178303 GARD:0004722 UMLS:C1842464 ICD10CM:Q93.5 MESH:C536110 OMIM:608156 SCTID:719664004" +MONDO:0016993 "UMLS:CN202307 ICD10CM:Q80.8 Orphanet:263558" MONDO:0011859 UBERON:0014540 UBERON:0036352 @@ -20454,26 +20446,26 @@ MONDO:0030907 "DOID:0080240 OMIM:300997" GO:0043392 "Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid)." MONDO:0031006 "OMIM:619259" CHEBI:33299 "An alkaline earth molecular entity is a molecular entity containing one or more atoms of an alkaline earth metal." -MONDO:0013078 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31." "OMIM:613006 DOID:0110761 UMLS:C2751697 MESH:C567818 ICD10:E10" +MONDO:0013078 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31." "OMIM:613006 DOID:0110761 UMLS:C2751697 MESH:C567818" UBERON:0010847 UBERON:0009615 HP:0011001 "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." "SNOMEDCT_US:49347007 UMLS:C0029464 MSH:D010026" -MONDO:0014353 "OMIM:216920 ICD10:E77.8 UMLS:C4014371 OMIM:615816 MESH:C565684 UMLS:C1857617 GARD:0004331 Orphanet:443811" -MONDO:0009924 "Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." "OMIM:264700 ICD10:E55.0 NCIT:C131073 OMIM:600081 Orphanet:289157 MESH:C562688 SCTID:67049004" +MONDO:0014353 "OMIM:216920 UMLS:C4014371 OMIM:615816 ICD10CM:E77.8 MESH:C565684 UMLS:C1857617 GARD:0004331 Orphanet:443811" +MONDO:0009924 "Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." "OMIM:264700 ICD10CM:E55.0 NCIT:C131073 OMIM:600081 Orphanet:289157 MESH:C562688 SCTID:67049004" MONDO:0016992 MONDO:0011858 "OMIM:607565 MESH:C564378 UMLS:C1843661" GO:0051050 "Any process that activates or increases the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." MONDO:0014965 "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene." "GARD:0013220 UMLS:C4310670 OMIM:617194" CL:1000617 "KUPO:0001026" -MONDO:0016086 "Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterized by generally self-limiting bone lesions that may cause pain and swelling often localized at the tarsal navicular bone" "GARD:0006842 ICD10:M93.2 DOID:11760 UMLS:CN200840 ICD9:732.5 SCTID:203392007 Orphanet:2054 UMLS:C0158444" +MONDO:0016086 "Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterized by generally self-limiting bone lesions that may cause pain and swelling often localized at the tarsal navicular bone" "GARD:0006842 DOID:11760 ICD10CM:M93.2 UMLS:CN200840 ICD9:732.5 SCTID:203392007 Orphanet:2054 UMLS:C0158444" MONDO:0018290 "Orphanet:371183" MONDO:0031007 "OMIM:619260" http://identifiers.org/hgnc/17820 MONDO:0100370 "A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk." "NCIT:C157781" UBERON:0014541 MONDO:0030908 "OMIM:300998 DOID:0080241 Orphanet:435938" -MONDO:0017316 "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections)." "SCTID:716192009 Orphanet:2866 ICD10:Q87.1 GARD:0004841" -MONDO:0015794 "ICD10:G71.2 UMLS:C1843691 GARD:0009129 Orphanet:178148" +MONDO:0017316 "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections)." "ICD10CM:Q87.1 SCTID:716192009 Orphanet:2866 GARD:0004841" +MONDO:0015794 "UMLS:C1843691 ICD10CM:G71.2 GARD:0009129 Orphanet:178148" MONDO:0013155 "UMLS:C3150412 Orphanet:370959 OMIM:613151" MONDO:0031003 "OMIM:619256" CL:2000014 "Any skin fibroblast that is part of a upper leg skin." @@ -20481,15 +20473,15 @@ UBERON:0009870 http://identifiers.org/hgnc/2932 UBERON:0007475 UBERON:0005913 -MONDO:0008294 "Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations." "UMLS:C0162565 OMIM:176000 SCTID:234422006 GARD:0005732 ICD10:E80.2 NCIT:C84536 MESH:D017118 Orphanet:79276 DOID:3890" +MONDO:0008294 "Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations." "DOID:3890 UMLS:C0162565 MESH:D017118 ICD10CM:E80.2 SCTID:234422006 OMIM:176000 NCIT:C84536 Orphanet:79276 GARD:0005732" UBERON:0004716 UBERON:0010848 CL:0002169 "An epithelial cell located on the basal lamina of the olfactory epithelium." "FMA:62303" GO:0042488 "Any process that activates or increases the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages that are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates." -MONDO:0017939 "UMLS:CN204085 OMIM:602771 ICD10:G71.2 Orphanet:324604" -MONDO:0003571 "ICD9:386.5 ICD10:H83.2 ICD9:386.50 SCTID:5239005 ICD9:386.58 DOID:566 ICD10:H83.2X9 UMLS:C0155514 ICD10:H83.2X" +MONDO:0017939 "UMLS:CN204085 OMIM:602771 ICD10CM:G71.2 Orphanet:324604" +MONDO:0003571 "ICD10CM:H83.2 ICD9:386.5 ICD9:386.50 SCTID:5239005 ICD9:386.58 DOID:566 UMLS:C0155514" MONDO:0007805 "Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene." "DOID:0110699 OMIM:146520 Orphanet:90368 MESH:C564143" -MONDO:0017636 "Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated." "Orphanet:306669 ICD10:G20 UMLS:CN203531" +MONDO:0017636 "Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated." "ICD10CM:G20 Orphanet:306669 UMLS:CN203531" MONDO:0000022 "Urination during sleep." "NCIT:C118172 MESH:D053206" MONDO:0017938 MONDO:0009152 "An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21." "DOID:0111149 UMLS:C3541474 GARD:0002060 Orphanet:1885 OMIM:225100" @@ -20509,9 +20501,9 @@ MONDO:0007644 "Decreased or absent levels of serum immunoglobulin A, with normal MONDO:0030905 "OMIM:619174" UBERON:0009871 NCBITaxon:51028 "GC_ID:1" -MONDO:0016431 "Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." "OMIM:606482 UMLS:C4304672 ICD10:G60.0 Orphanet:228179 SCTID:719514002 UMLS:CN201389" +MONDO:0016431 "Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." "OMIM:606482 UMLS:C4304672 Orphanet:228179 ICD10CM:G60.0 SCTID:719514002 UMLS:CN201389" MONDO:0014395 "An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis." "OMIM:615911 DOID:0060214 UMLS:C4014648 Orphanet:275872" -MONDO:0015362 "Autosomal dominant form of distal hereditary motor neuropathy." "Orphanet:140465 UMLS:CN228930 ICD10:G12.1 DOID:0111198" +MONDO:0015362 "Autosomal dominant form of distal hereditary motor neuropathy." "Orphanet:140465 UMLS:CN228930 ICD10CM:G12.1 DOID:0111198" CHEBI:23334 MONDO:0041093 "SCTID:232039004" HP:0000988 "A red eruption of the skin." "UMLS:C0015230 SNOMEDCT_US:112625008 SNOMEDCT_US:271807003 MSH:D005076 MEDDRA:10037844" @@ -20521,12 +20513,12 @@ MONDO:0021444 "A benign neoplasm that involves the large intestine." "NCIT:C4610 UBERON:0010849 MONDO:0007171 "Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene." "Orphanet:1344 OMIM:108770" CL:0000595 "An erythrocyte lacking a nucleus." -MONDO:0018879 "Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus." "SCTID:64540004 MESH:C535892 Orphanet:525 UMLS:C0023645 ICD10:L66.1 GARD:0003247" +MONDO:0018879 "Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus." "SCTID:64540004 ICD10CM:L66.1 MESH:C535892 Orphanet:525 UMLS:C0023645 GARD:0003247" MONDO:0003113 "A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary." "UMLS:C0262963 DOID:4717 NCIT:C8881 UMLS:C1334581 NCIT:C3918" -MONDO:0005837 "A malignant neoplasm involving the mandible" "ICD9:170.1 ICD10:C41.1 SCTID:448668007 EFO:0007356 MESH:D008339 NCIT:C35178 DOID:2338" +MONDO:0005837 "A malignant neoplasm involving the mandible" "ICD9:170.1 SCTID:448668007 EFO:0007356 MESH:D008339 NCIT:C35178 DOID:2338" UBERON:0006010 UBERON:0012142 -MONDO:0019233 "Orphanet:79188 UMLS:CN227598 ICD10:E71.3 GARD:0012470" +MONDO:0019233 "ICD10CM:E71.3 Orphanet:79188 UMLS:CN227598 GARD:0012470" GO:0002262 "The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus." UBERON:0003518 MONDO:0002374 @@ -20535,7 +20527,7 @@ MONDO:0018035 "UMLS:CN204279 Orphanet:331217" http://identifiers.org/hgnc/28844 UBERON:0007473 UBERON:0035159 -MONDO:0011058 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene." "OMIM:601369 UMLS:C1832425 ICD10:H90.3 MESH:C563335 DOID:0110593" +MONDO:0011058 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene." "OMIM:601369 UMLS:C1832425 MESH:C563335 DOID:0110593" MONDO:0031001 "OMIM:619248" MONDO:0014584 "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37." "Orphanet:590 DOID:0110665 Orphanet:98913 OMIM:616322 UMLS:C4225371" GO:0080145 "Any process involved in the maintenance of an internal steady state of cysteine within an organism or cell." @@ -20552,28 +20544,28 @@ GO:0016469 "A large protein complex that catalyzes the synthesis or hydrolysis o MONDO:0022618 "MESH:C537413 GARD:0008558 UMLS:C2931487" UBERON:0012141 MONDO:0024491 "A morphologic qualifier indicating that a cancerous lesion is well differentiated." "UMLS:C0475269 NCIT:C28077 LOINC:LA9629-2" -MONDO:0005865 "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." "ICD10:J67.5 UMLS:C0155889 SCTID:52333004 ICD9:495.5 DOID:2708 EFO:0007385" +MONDO:0005865 "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes." "UMLS:C0155889 SCTID:52333004 ICD9:495.5 DOID:2708 EFO:0007385" MONDO:0030069 "OMIM:618944" ENVO:01001617 "A material accumulation process during which the mass of snow on a surface increases." MONDO:0005096 "A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma." "DOID:1749 NCIT:C2929 ICDO:8070/3 EFO:0000707 UMLS:C0007137 MESH:D018307 SCTID:402815007 MESH:D002294 GARD:0001091" GO:0043574 "Transport of substances into, out of or within a peroxisome, a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules." -MONDO:0008300 "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems." "UMLS:C0032897 ICD9:759.81 Orphanet:739 DOID:11983 GARD:0005575 OMIM:615547 SCTID:89392001 MedDRA:10036476 OMIM:176270 ICD10:Q87.1 MESH:D011218 NCIT:C75463" -MONDO:0018036 "ICD10:D81.4 Orphanet:331220" +MONDO:0008300 "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems." "UMLS:C0032897 ICD9:759.81 Orphanet:739 ICD10CM:Q87.1 DOID:11983 GARD:0005575 OMIM:615547 SCTID:89392001 MedDRA:10036476 OMIM:176270 MESH:D011218 NCIT:C75463" +MONDO:0018036 "ICD10CM:D81.4 Orphanet:331220" MONDO:0033665 "OMIM:619081" MONDO:0016738 "UMLS:CN201986 Orphanet:251995" -MONDO:0017404 "Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism." "ICD10:Q99.8 UMLS:CN203151 Orphanet:293939" +MONDO:0017404 "Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism." "ICD10CM:Q99.8 UMLS:CN203151 Orphanet:293939" CHEBI:32494 "The D-enantiomer of phenylalaninate." MONDO:0031002 "OMIM:619255" http://identifiers.org/hgnc/1736 -MONDO:0010046 "Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32." "OMIM:270750 UMLS:C0796019 DOID:0110774 ICD10:G11.4 SCTID:726608002 MESH:C536859 GARD:0000336 Orphanet:101003" +MONDO:0010046 "Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32." "OMIM:270750 ICD10CM:G11.4 UMLS:C0796019 DOID:0110774 SCTID:726608002 MESH:C536859 GARD:0000336 Orphanet:101003" MONDO:0001842 "A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present." "UMLS:C1519847 NCIT:C40172 DOID:13953" http://identifiers.org/hgnc/28845 NCBITaxon:51026 "GC_ID:1" MONDO:0005723 "Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)" "EFO:0007228 MESH:D016919 SCTID:14232007 ICD9:321.0 DOID:0080159" -MONDO:0018430 "A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts." "Orphanet:401959 UMLS:CN226145 ICD10:Q04.3" +MONDO:0018430 "A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts." "ICD10CM:Q04.3 Orphanet:401959 UMLS:CN226145" MONDO:0009408 "UMLS:C1855884 MESH:C565489 OMIM:240000" CHEBI:62732 "An ester where the ester linkage is bonded directly to an aromatic system." -MONDO:0017937 "Orphanet:324585 ICD10:G60.0 UMLS:CN204081" +MONDO:0017937 "ICD10CM:G60.0 Orphanet:324585 UMLS:CN204081" MONDO:0006152 "A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." "UMLS:C0267392 EFO:1000184 NCIT:C5517" HP:0002110 "Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways." "SNOMEDCT_US:12295008 UMLS:C0006267 MSH:D001987" UBERON:0012140 @@ -20582,7 +20574,7 @@ MONDO:0012615 "Any autosomal recessive non-syndromic intellectual disability in MONDO:0019235 "UMLS:CN227599 Orphanet:79190" MONDO:0013264 "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene." "UMLS:C3150692 DOID:0060203 Orphanet:803 OMIM:613435" MONDO:0018299 "Orphanet:371442" -MONDO:0004669 "A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma." "ICD9:142.8 DOID:8850 NCIT:C3811 ICD10:C08 MESH:D012468 SCTID:255072001" +MONDO:0004669 "A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma." "ICD10CM:C08 ICD9:142.8 DOID:8850 NCIT:C3811 MESH:D012468 SCTID:255072001" MONDO:0016737 MONDO:0040998 "SCTID:197718007 GARD:0009774 UMLS:C1260911" MONDO:0040732 "SCTID:11218009 UMLS:C0276075" @@ -20593,22 +20585,22 @@ UBERON:0007213 NCBITaxon:144051 "GC_ID:1" UBERON:0001119 UBERON:0002316 -MONDO:0001172 "SCTID:46536000 DOID:10972 ICD10:N70 ICD10:N70.9 UMLS:C0036133 ICD9:614.2 ICD10:N70.93" +MONDO:0001172 "SCTID:46536000 DOID:10972 UMLS:C0036133 ICD9:614.2" MONDO:0019230 "Orphanet:79185 UMLS:CN227595" CL:0002243 "A circular smooth muscle cell of the iris, innervated by the ciliary nerves (parasympathetic), and acting to contract the pupil. This muscle cell derives from neuroectoderm. This smooth muscle cell results from transformation of epithelial cells to smooth muscle cells." "FMA:70611" -MONDO:0012460 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene." "DOID:0110518 MESH:C565207 OMIM:610265 UMLS:C1853223 ICD10:H90.3" +MONDO:0012460 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene." "DOID:0110518 MESH:C565207 OMIM:610265 UMLS:C1853223" GO:0006584 "The chemical reactions and pathways involving any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine." -MONDO:0016693 "A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)" "NCIT:C3696 DOID:5077 SCTID:449799008 Orphanet:251618 UMLS:C0205768 ICDO:9384/1 MESH:D001254 ICD10:D43.2 GARD:0010632" -MONDO:0012434 "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene." "UMLS:C1857777 MESH:C565707 Orphanet:217656 ICD10:I42.8 OMIM:610193 DOID:0110081" +MONDO:0016693 "A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)" "NCIT:C3696 DOID:5077 SCTID:449799008 ICD10CM:D43.2 Orphanet:251618 UMLS:C0205768 ICDO:9384/1 MESH:D001254 GARD:0010632" +MONDO:0012434 "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene." "UMLS:C1857777 MESH:C565707 Orphanet:217656 OMIM:610193 DOID:0110081" UBERON:0005076 http://identifiers.org/hgnc/1739 MONDO:0014930 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene." "UMLS:C4310703 OMIM:617125" GO:0098962 "Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity involved in synaptic transmission. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors." MONDO:0030067 "OMIM:618939" -MONDO:0016071 "Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis." "NCIT:C98297 ICD10:M72.8 ICD9:733.29 OMIM:228600 UMLS:C2745948 SCTID:238861002 Orphanet:2028" +MONDO:0016071 "Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis." "NCIT:C98297 ICD9:733.29 OMIM:228600 UMLS:C2745948 SCTID:238861002 Orphanet:2028 ICD10CM:M72.8" UBERON:0004711 -MONDO:0014854 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene." "ICD10:H90.3 OMIM:616969 DOID:0110587 UMLS:C4283893" -MONDO:0005803 "An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11." "SCTID:42681006 EFO:0007318 OMIMPS:256450 HP:0000825 OMIM:609975 DOID:13317 OMIM:601820 ICD10:E16.9 OMIM:606762 OMIM:610021 OMIM:602485 OMIM:256450 Orphanet:443095 OMIM:609968" +MONDO:0014854 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene." "OMIM:616969 DOID:0110587 UMLS:C4283893" +MONDO:0005803 "An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11." "SCTID:42681006 EFO:0007318 OMIMPS:256450 HP:0000825 DOID:13317 OMIM:601820 OMIM:609975 OMIM:606762 OMIM:610021 OMIM:602485 OMIM:256450 Orphanet:443095 OMIM:609968" MONDO:0000552 "An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal." "NCIT:C3771 DOID:0050938 EFO:0008509 ICDO:8520/3 SCTID:278054005 UMLS:C0206692" GO:1903319 "Any process that activates or increases the frequency, rate or extent of protein maturation." UBERON:0003513 @@ -20617,7 +20609,7 @@ MONDO:0014987 "Any Fanconi anemia in which the cause of the disease is a mutatio NBO:0000308 "\"Cognitive perception of a sensation by any of the five senses -- vision, touch, smell, taste, and hearing.\" [NBO:GVG]" UBERON:0002315 MONDO:0000497 "Inflammation of uterine musculature associated with pus in the uterine cavity." "DOID:0050862 UMLS:C0686163 MESH:D055112 SCTID:88981003 UMLS:C0034215 NCIT:C121207" -MONDO:0015664 "Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases." "ICD10:E25.7 Orphanet:1676 GARD:0006757" +MONDO:0015664 "Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases." "Orphanet:1676 GARD:0006757" CL:2000055 "Any dendritic cell that is part of a liver." MONDO:0019495 MONDO:0005258 "A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors." "DOID:0060041 OMIM:209850 EFO:0003759 EFO:0003756 SCTID:408856003 NCIT:C88412 Orphanet:106" @@ -20627,17 +20619,17 @@ MONDO:0030902 "OMIM:619170" GO:0006572 "The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid." MONDO:0002615 "A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells." "SCTID:63103006 UMLS:C0043325 HP:0000991 DOID:3345" IAO:8000008 "An ontology module that is intended for usage in analysis or discovery applications."@en -MONDO:0005609 "A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." "ICD10:B02.9 ICD9:053 UMLS:C0019360 MESH:D006562 ICD10:B02 EFO:0006510 SCTID:4740000 DOID:8536 NCIT:C71079" +MONDO:0005609 "A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." "ICD9:053 UMLS:C0019360 MESH:D006562 ICD10CM:B02 EFO:0006510 SCTID:4740000 DOID:8536 NCIT:C71079" MONDO:0004457 "A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma." "UMLS:C1334646 NCIT:C6839 DOID:8093" http://identifiers.org/hgnc/19104 http://identifiers.org/hgnc/218 -MONDO:0019579 "Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk." "SCTID:717258005 ICD10:L98.5 UMLS:C4273967 Orphanet:90394" +MONDO:0019579 "Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk." "ICD10CM:L98.5 SCTID:717258005 UMLS:C4273967 Orphanet:90394" MONDO:0012730 "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene." "Orphanet:91387 OMIM:611788 MESH:C567085 UMLS:C2673186" CHEBI:36347 "A nucleus or any of its constituents in any of their energy states." MONDO:0018297 -MONDO:0004682 "A malignant form of neoplasm of retromolar area." "ICD10:C06.2 SCTID:363391009 ICD9:145.6 DOID:8930" +MONDO:0004682 "A malignant form of neoplasm of retromolar area." "SCTID:363391009 ICD9:145.6 ICD10CM:C06.2 DOID:8930" MONDO:0033662 "OMIM:619076" -MONDO:0018160 "An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." "MESH:D012175 Orphanet:357027 NCIT:C8495 OMIM:180200 ICD10:C69.2 DOID:4648" +MONDO:0018160 "An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." "MESH:D012175 Orphanet:357027 NCIT:C8495 OMIM:180200 ICD10CM:C69.2 DOID:4648" UBERON:0005911 MONDO:0006128 "An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord." "NCIT:C5322 UMLS:C1335476 EFO:1000156" MONDO:0011850 "OMIM:607508" @@ -20645,12 +20637,12 @@ GO:0120178 "The chemical reactions and pathways resulting in the formation of an MONDO:0003354 "A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas." "UMLS:C0238152 NCIT:C7723 DOID:5262" GO:0032269 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell." MONDO:0017099 -MONDO:0014127 "Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." "SCTID:722057000 Orphanet:370091 DOID:0070099 UMLS:CN204842 OMIM:615312 ICD10:E70.3" +MONDO:0014127 "Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." "ICD10CM:E70.3 SCTID:722057000 Orphanet:370091 DOID:0070099 UMLS:CN204842 OMIM:615312" MONDO:0030065 "OMIM:618929" MONDO:0017932 "UMLS:CN204070 Orphanet:324416" MONDO:0019232 "Orphanet:79187 UMLS:CN227597" -MONDO:0013111 "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." "Orphanet:217371 GARD:0010593 UMLS:C3278664 ICD10:K72.0 OMIM:613070" -MONDO:0002679 "An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries." "DOID:3526 ICD9:433.81 ICD9:433.01 ICD9:433.31 ICD10:I63.9 MESH:D002544 ICD10:I63 SCTID:20059004 UMLS:C0007785 SCTID:432504007 ICD9:433.21 ICD9:434.91 NCIT:C50486" +MONDO:0013111 "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." "Orphanet:217371 GARD:0010593 UMLS:C3278664 OMIM:613070 ICD10CM:K72.0" +MONDO:0002679 "An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries." "DOID:3526 ICD9:433.81 ICD9:433.01 ICD9:433.31 MESH:D002544 SCTID:20059004 UMLS:C0007785 SCTID:432504007 ICD9:433.21 ICD9:434.91 NCIT:C50486" CHEBI:30527 "A derivative of the dimethylisoalloxazine (7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione) skeleton, with a substituent on the 10 position." UBERON:0006279 http://identifiers.org/hgnc/3036 @@ -20661,20 +20653,20 @@ MONDO:0003175 "An adenoid cystic carcinoma arising from the salivary gland. It i NCBITaxon:55824 "GC_ID:1" UBERON:0003515 http://identifiers.org/hgnc/11720 -MONDO:0017882 "Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis." "SCTID:48113006 ICD9:065.1 UMLS:C0019103 DOID:992 MedDRA:10030310 MESH:D006481 ICD10:A98.1 GARD:0008254 Orphanet:319266" +MONDO:0017882 "Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis." "SCTID:48113006 ICD9:065.1 UMLS:C0019103 MedDRA:10030310 DOID:992 MESH:D006481 GARD:0008254 Orphanet:319266 ICD10CM:A98.1" UBERON:0004715 http://identifiers.org/hgnc/4235 -MONDO:0019231 "UMLS:CN227596 ICD10:E74.8 Orphanet:79186" +MONDO:0019231 "UMLS:CN227596 ICD10CM:E74.8 Orphanet:79186" MONDO:0005384 "A seizure caused by a localized disorder." "MESH:D004828 EFO:0004263 ICD9:345.50 NCIT:C122812 DOID:2234 SCTID:230381009 UMLS:C0014547" GO:0006586 "The chemical reactions and pathways involving indolalkylamines, indole or indole derivatives containing a primary, secondary, or tertiary amine group." MONDO:0021229 "A neoplasm (disease) that involves the ciliary body." "NCIT:C4364 UMLS:C0339349" MONDO:0030066 "OMIM:618935" -MONDO:0010148 "Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections." "UMLS:C0040587 ICD9:748.3 MESH:D014137 ICD10:J98.0 OMIM:275300 MedDRA:10044316 NCIT:C85196 GARD:0003793 SCTID:57451009 UMLS:C2713583 GARD:0005234 Orphanet:3347" +MONDO:0010148 "Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections." "UMLS:C0040587 ICD9:748.3 MESH:D014137 OMIM:275300 MedDRA:10044316 NCIT:C85196 GARD:0003793 SCTID:57451009 ICD10CM:J98.0 UMLS:C2713583 GARD:0005234 Orphanet:3347" MONDO:0025397 "A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species." "MESH:D004216" MONDO:0030900 "OMIM:619150" -MONDO:0007113 "Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." "ICD10:Q93.5 GARD:0005810 ICD9:759.89 Orphanet:72 ICD10:Q93.51 MESH:D017204 MedDRA:10049004 SCTID:76880004 UMLS:C0162635 OMIM:105830 DOID:1932 NCIT:C75462 MESH:C531619" +MONDO:0007113 "Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features." "GARD:0005810 ICD9:759.89 Orphanet:72 MESH:D017204 ICD10CM:Q93.5 MedDRA:10049004 SCTID:76880004 UMLS:C0162635 OMIM:105830 DOID:1932 NCIT:C75462 MESH:C531619 ICD10CM:Q93.51" UBERON:0002318 -MONDO:0012847 "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene." "OMIM:612281 Orphanet:313 UMLS:C2677065 ICD10:Q80.2 DOID:0060715 Orphanet:79394" +MONDO:0012847 "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene." "OMIM:612281 Orphanet:313 UMLS:C2677065 DOID:0060715 Orphanet:79394" UBERON:0003516 GO:0060786 "Any process that modulates the frequency, rate or extent of cell differentiation that contributes to the maintenance of a steady state of a cell type within a tissue." GO:0071735 "A protein complex composed of two identical immunoglobulin heavy chains of an IgG isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgG immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph." @@ -20683,22 +20675,22 @@ MONDO:0018032 "Orphanet:331184" CHEBI:16042 "A monoatomic monoanion resulting from the addition of an electron to any halogen atom." http://identifiers.org/hgnc/216 http://identifiers.org/hgnc/2938 -MONDO:0001691 "A malignant neoplasm involving the laryngeal cartilage." "UMLS:C0153486 ICD9:161.3 SCTID:363431006 DOID:13348 ICD10:C32.3" +MONDO:0001691 "A malignant neoplasm involving the laryngeal cartilage." "UMLS:C0153486 ICD9:161.3 SCTID:363431006 DOID:13348" http://identifiers.org/hgnc/19102 MONDO:0003055 "A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen." "UMLS:C1384406 DOID:4588 EFO:1000522 NCIT:C4718 MESH:D008579" UBERON:0003510 http://identifiers.org/hgnc/6631 -MONDO:0015749 "Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." "UMLS:CN200301 Orphanet:171829 ICD10:Q93.5" +MONDO:0015749 "Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay." "UMLS:CN200301 ICD10CM:Q93.5 Orphanet:171829" MONDO:0003567 "DOID:565 UMLS:C0155518 ICD9:386.54 SCTID:194375009" GO:0098900 "Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels." MONDO:0012835 "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene." "OMIM:612253" MONDO:0022623 "GARD:0001175" -MONDO:0016317 "Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens." "Orphanet:217253 ICD10:G13.1 UMLS:C4274344 SCTID:716684004 UMLS:CN201135" +MONDO:0016317 "Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens." "Orphanet:217253 UMLS:C4274344 ICD10CM:G13.1 SCTID:716684004 UMLS:CN201135" ECTO:9001822 "An exposure to antagonist." MONDO:0000808 -MONDO:0011049 "Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies." "OMIM:601353 MESH:C537933 ICD10:Q87.8 GARD:0000958 Orphanet:1272 SCTID:720955004 UMLS:C0795941" +MONDO:0011049 "Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies." "OMIM:601353 MESH:C537933 GARD:0000958 Orphanet:1272 ICD10CM:Q87.8 SCTID:720955004 UMLS:C0795941" MONDO:0004764 "SCTID:77323000 UMLS:C0158316 DOID:9358 ICD9:726.63" -MONDO:0008853 "Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." "OMIM:209885 ICD10:Q87.0 SCTID:408537003 UMLS:C1319466 DOID:0060549 Orphanet:1231 GARD:0000819 MESH:C537908" +MONDO:0008853 "Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." "OMIM:209885 SCTID:408537003 UMLS:C1319466 DOID:0060549 ICD10CM:Q87.0 Orphanet:1231 GARD:0000819 MESH:C537908" MONDO:0004409 "A carcinoma that develops in the ducts of the nipple." "DOID:7953 UMLS:C1334967 NCIT:C27234" UBERON:0001114 http://identifiers.org/hgnc/5433 @@ -20708,39 +20700,39 @@ MONDO:0023820 "GARD:0003698 MESH:C535806" MONDO:0022888 "GARD:0001584" MONDO:0006452 "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." "NCIT:C6463 UMLS:C1335924 DOID:8138 EFO:1000577" HP:0000829 "A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia." "MSH:D007011 SNOMEDCT_US:36976004 UMLS:C0020626" -MONDO:0003937 "The inflammation of a vertebra." "MESH:D013166 ICD10:M46 ICD9:720.89 DOID:6590 ICD9:720.8 SCTID:84172003 NCIT:C116779" +MONDO:0003937 "The inflammation of a vertebra." "MESH:D013166 ICD9:720.89 DOID:6590 ICD9:720.8 SCTID:84172003 NCIT:C116779" MONDO:0022622 "GARD:0001174" -MONDO:0007868 "A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32." "ICD10:G25.8 OMIM:149400 Orphanet:3197 DOID:0060696" +MONDO:0007868 "A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32." "OMIM:149400 Orphanet:3197 DOID:0060696" MONDO:0030064 "OMIM:618924" ECTO:9000044 "An exposure to ketone." -MONDO:0001224 "Atopic conjunctivitis that is of relatively short duration and that has a rapid onset." "NCIT:C34353 SCTID:67678004 UMLS:C0001309 ICD9:372.05 ICD10:H10.1 DOID:11203" +MONDO:0001224 "Atopic conjunctivitis that is of relatively short duration and that has a rapid onset." "NCIT:C34353 SCTID:67678004 UMLS:C0001309 ICD9:372.05 ICD10CM:H10.1 DOID:11203" NCBITaxon:11103 "GC_ID:1" MONDO:0003861 "An eccrine adenocarcinoma that arises from the sweat glands in the vulva." "NCIT:C40305 UMLS:C2202743 DOID:6339" NCBITaxon:6657 "GC_ID:1" UBERON:0001113 MONDO:0019062 "OBSOLETE. Rare infectious disease." "UMLS:CN205543 Orphanet:68416" GO:0043226 "Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane." -MONDO:0014451 "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene." "Orphanet:656 OMIM:616002 UMLS:C4014925 DOID:0111132 ICD10:N04.1" +MONDO:0014451 "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene." "Orphanet:656 OMIM:616002 UMLS:C4014925 DOID:0111132" MONDO:0022889 "GARD:0001585" MONDO:0022887 "GARD:0001579" MONDO:0001927 "Dysfunction of the pulmonary valve characterized by incomplete valve closure." "DOID:14265 MESH:D011665 SCTID:194995005 NCIT:C50848" -MONDO:0008487 "A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity." "ICD10:E28.2 EFO:0000660 SCTID:69878008 UMLS:C0032460 ICD9:256.4 Orphanet:3185 DOID:11612 NCIT:C26862 MESH:D011085 OMIM:184700" +MONDO:0008487 "A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity." "EFO:0000660 SCTID:69878008 UMLS:C0032460 ICD9:256.4 Orphanet:3185 DOID:11612 NCIT:C26862 MESH:D011085 OMIM:184700" UBERON:0003512 -MONDO:0024583 "OBSOLETE. The protrusion of part of an organ or fibroadipose tissue through an abnormal opening." "MESH:D006547 NCIT:C34685 ICD10:K40.K46" +MONDO:0024583 "OBSOLETE. The protrusion of part of an organ or fibroadipose tissue through an abnormal opening." "MESH:D006547 NCIT:C34685 ICD10CM:K40-K46" FOODON:03400644 "http://www.langual.org/langual_thesaurus.asp?termid=A0644" -MONDO:0001213 "Chronic form of serous otitis media." "ICD9:381.1 ICD10:H65.2 DOID:11181 ICD10:H65.20 SCTID:81564005 ICD9:381.10 UMLS:C0155421 ICD9:381.19" +MONDO:0001213 "Chronic form of serous otitis media." "ICD9:381.1 DOID:11181 SCTID:81564005 ICD9:381.10 UMLS:C0155421 ICD9:381.19" GO:0042592 "Any biological process involved in the maintenance of an internal steady state." MONDO:0006221 "A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps." "UMLS:C0149826 NCIT:C7699 EFO:1000268" FOODON:03000001 "peeling\" is the process of removing the outer covering, layer or skin from a fruit, vegetable, or plant or animal (such as a shrimp)."@en -MONDO:0024183 "ICD10CM:E51.12 DOID:0070317" +MONDO:0024183 "DOID:0070317" MONDO:0013588 "Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene." "Orphanet:2855 OMIM:614129 UMLS:C3808414" -MONDO:0018306 "Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3)." "ICD10:E70.3 ICD9:270.2 SCTID:37548006 DOID:0060831 OMIM:214450 OMIMPS:214450 OMIM:607624 GARD:0010913 UMLS:CN204933 Orphanet:381 OMIM:609227" +MONDO:0018306 "Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3)." "ICD10CM:E70.3 ICD9:270.2 SCTID:37548006 DOID:0060831 OMIM:214450 OMIMPS:214450 OMIM:607624 GARD:0010913 UMLS:CN204933 Orphanet:381 OMIM:609227" MONDO:0006062 NCBITaxon:552467 "GC_ID:1" GO:0060284 "Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate." CHEBI:35498 "An agent that promotes the excretion of urine through its effects on kidney function." GO:0050870 "Any process that activates or increases the frequency, rate or extent of T cell activation." -MONDO:0002013 "A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation." "ICD10:D18.1 UMLS:CN201700 NCIT:C8965 GARD:0009789 SCTID:400178008 Orphanet:2415 ICD9:228.1 MESH:D008202 DOID:1475 ICDO:9170/0 SCTID:254836000" +MONDO:0002013 "A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation." "UMLS:CN201700 NCIT:C8965 GARD:0009789 SCTID:400178008 Orphanet:2415 ICD9:228.1 MESH:D008202 DOID:1475 ICDO:9170/0 SCTID:254836000" MONDO:0007260 "OMIM:114650 UMLS:C1861898 MESH:C566176" GO:0044271 "The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds." HP:0001096 "Inflammation of the cornea and conjunctiva." "SNOMEDCT_US:88151007 UMLS:C0022573 MSH:D007637" @@ -20750,15 +20742,15 @@ NCBITaxon:6656 "GC_ID:1" http://identifiers.org/hgnc/31399 MONDO:0030061 "OMIM:618918" UBERON:0003511 -MONDO:0012552 "Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors." "OMIM:610755 NCIT:C157449 SCTID:715907003 UMLS:C1970712 MESH:C567059 Orphanet:276152 UMLS:C4274947 DOID:0080137 ICD10:D44.8" +MONDO:0012552 "Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors." "OMIM:610755 NCIT:C157449 ICD10CM:D44.8 SCTID:715907003 UMLS:C1970712 MESH:C567059 Orphanet:276152 UMLS:C4274947 DOID:0080137" MONDO:0003566 MONDO:0004265 "An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge." "ICD9:615.0 UMLS:C0238103 SCTID:67667007 DOID:7528 NCIT:C27022" -MONDO:0010540 "Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family." "UMLS:C0795974 MESH:C563065 Orphanet:1867 OMIM:302000 GARD:0001038 ICD10:Q81.8" -MONDO:0002520 "A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues." "Orphanet:100924 MESH:D017094 DOID:3133 Orphanet:95157 ICD10:E80.2 OMIM:612740 UMLS:C0162533 SCTID:55056006 GTR:AN0932921 UMLS:CN552491" +MONDO:0010540 "Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family." "UMLS:C0795974 MESH:C563065 Orphanet:1867 OMIM:302000 GARD:0001038 ICD10CM:Q81.8" +MONDO:0002520 "A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues." "ICD10CM:E80.2 UMLS:C0162533 UMLS:CN552491 Orphanet:100924 OMIM:612740 SCTID:55056006 GTR:AN0932921 DOID:3133 Orphanet:95157 MESH:D017094" MONDO:0006063 MONDO:0022620 "GARD:0009523" UBERON:0005075 -MONDO:0014145 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene." "OMIM:615360 DOID:0110217 ICD10:H35.5 UMLS:C3715164" +MONDO:0014145 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene." "OMIM:615360 DOID:0110217 UMLS:C3715164" UBERON:0004710 MONDO:0021422 MONDO:0007261 "OMIM:114700 MESH:C566175 UMLS:C1861897" @@ -20777,17 +20769,17 @@ MONDO:0014620 "Any myoclonus-dystonia syndrome in which the cause of the disease MONDO:0008944 "Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene." "Orphanet:475 OMIM:213300 UMLS:CN119531 DOID:0110980" NCBITaxon:632 "GC_ID:11 PMID:15084509" http://identifiers.org/hgnc/1742 -MONDO:0004760 "ICD10:N36.5 DOID:9339 SCTID:74944002 ICD9:599.4" +MONDO:0004760 "ICD10CM:N36.5 DOID:9339 SCTID:74944002 ICD9:599.4" CL:0010002 "An epithelial cell that is part_of a umbilical artery." UBERON:0006273 -MONDO:0015873 "Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses." "NCIT:C3301 GARD:0007303 SCTID:403946000 ICD10:C50.0 MedDRA:10033367 ONCOTREE:PD Orphanet:180275 UMLS:C1704323" -MONDO:0015583 "The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia." "SCTID:719652007 Orphanet:163693 UMLS:C4304537 OMIM:606407 UMLS:CN199952 ICD10:Q93.5" +MONDO:0015873 "Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses." "NCIT:C3301 GARD:0007303 ICD10CM:C50.0 SCTID:403946000 MedDRA:10033367 ONCOTREE:PD Orphanet:180275 UMLS:C1704323" +MONDO:0015583 "The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia." "SCTID:719652007 Orphanet:163693 ICD10CM:Q93.5 UMLS:C4304537 OMIM:606407 UMLS:CN199952" MONDO:0000785 "OBSOLETE. A allergy involving a Prunus persica." "DOID:0060510" MONDO:0100231 "A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement." "OMIM:607507" MONDO:0014381 "Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene." "GARD:0009803 UMLS:CN776838 DOID:0070224 OMIM:615878 Orphanet:480483 Orphanet:172 Orphanet:79304 UMLS:C2931067" -MONDO:0000263 "An inflammation of both larynx and trachea." "ICD10:J37.1 ICD9:476.1 ICD9:464.2 SCTID:55130001 ICD9:464 UMLS:C0023076 ICD10:J04.2 DOID:0050148 ICD10:J04" +MONDO:0000263 "An inflammation of both larynx and trachea." "ICD9:476.1 ICD9:464.2 SCTID:55130001 ICD9:464 UMLS:C0023076 DOID:0050148" HP:0002360 "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." "SNOMEDCT_US:53888004 UMLS:C0037317" -MONDO:0006694 "Atherosclerosis of the cerebral vasculature." "ICD10:I67.2 ICD9:437.0 MedDRA:1008095 NCIT:C34459 SCTID:55382008 DOID:12720 EFO:1000860 UMLS:C0007775" +MONDO:0006694 "Atherosclerosis of the cerebral vasculature." "ICD9:437.0 ICD10CM:I67.2 MedDRA:1008095 NCIT:C34459 SCTID:55382008 DOID:12720 EFO:1000860 UMLS:C0007775" MONDO:0030060 "OMIM:618917" UBERON:0006272 UBERON:0006271 @@ -20796,16 +20788,16 @@ http://identifiers.org/hgnc/28852 MONDO:0020226 "Orphanet:98642" HP:0004566 "Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours." "UMLS:C1866731" http://identifiers.org/hgnc/2942 -MONDO:0019028 "A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare." "ICD10:A06.8 UMLS:C2930799 ICD10:A06.9 ICD10:A06.6 ICD10:A06.3 ICD10:A06.0 Orphanet:67 ICD10:A06.1 ICD10:A06.7 ICD10:A06.4 MESH:C531613 ICD10:A06.5 ICD10:A06.2" +MONDO:0019028 "A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare." "UMLS:C2930799 ICD10CM:A06.2 ICD10CM:A06.5 ICD10CM:A06.3 ICD10CM:A06.0 ICD10CM:A06.9 ICD10CM:A06.6 Orphanet:67 ICD10CM:A06.7 ICD10CM:A06.4 ICD10CM:A06.1 MESH:C531613 ICD10CM:A06.8" MONDO:0004136 "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells." "UMLS:C1518713 DOID:7191 NCIT:C40075" -MONDO:0010389 "Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene." "OMIM:300645 MESH:C567068 ICD10:D84.8 Orphanet:319605 UMLS:C1970859 Orphanet:319623" +MONDO:0010389 "Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene." "OMIM:300645 MESH:C567068 Orphanet:319605 ICD10CM:D84.8 UMLS:C1970859 Orphanet:319623" MONDO:0100405 "Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)" "NCIT:C168771" MONDO:0021320 "A cancer that involves the mouth floor." "ICD9:144.8 NCIT:C9318 SCTID:363385007 ICD9:144.9" -MONDO:0002913 "A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003" "NCIT:C3569 NCIT:C2935 SCTID:126960003 UMLS:C0007762 ICD10:C71.6 SCTID:449420002 ICD9:191.6 MESH:D002528 DOID:4205" -MONDO:0004822 "Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection." "OMIM:613021 ICD10:J47.9 ICD9:494 SCTID:12295008 NCIT:C84475 DOID:9563 OMIMPS:211400 OMIM:211400 MESH:D001987 UMLS:C0006267 ICD10:J47 OMIM:613071 Orphanet:60033" +MONDO:0002913 "A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003" "NCIT:C3569 NCIT:C2935 SCTID:126960003 UMLS:C0007762 SCTID:449420002 ICD9:191.6 MESH:D002528 DOID:4205" +MONDO:0004822 "Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection." "OMIM:613021 ICD9:494 SCTID:12295008 NCIT:C84475 DOID:9563 OMIMPS:211400 OMIM:211400 MESH:D001987 UMLS:C0006267 ICD10CM:J47 OMIM:613071 Orphanet:60033" MONDO:0006512 "A subtype of breast cancer that is estrogen-receptor positive" "EFO:1000649 DOID:0060075" http://identifiers.org/hgnc/1744 -MONDO:0009805 "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene." "Orphanet:216820 Orphanet:216804 ICD10:Q78.0 Orphanet:216812 GARD:0010619 MESH:C564921 OMIM:259440 DOID:0110349" +MONDO:0009805 "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene." "Orphanet:216820 Orphanet:216804 ICD10CM:Q78.0 Orphanet:216812 GARD:0010619 MESH:C564921 OMIM:259440 DOID:0110349" MONDO:0024315 "Infection of the epicondyles by a parasite." "NCIT:C34587 SCTID:57100005 UMLS:C0014238 ICD9:360.13" CHEBI:33575 "A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid." MONDO:0004762 "SCTID:39402007 DOID:9346 UMLS:C0152078 ICD9:625.5" @@ -20815,16 +20807,16 @@ MONDO:0004699 "A non-Hodgkin or Hodgkin lymphoma that arises from any part of th MONDO:0006632 "Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children)." "EFO:1000789" MONDO:0013206 "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene." "Orphanet:98974 OMIM:613270 UMLS:C2750448" CHEBI:24400 "A glycosyl compound resulting from the attachment of a glycosyl group to a non-acyl group RO-, RS-, RSe-, etc. The bond between the glycosyl group and the non-acyl group is called a glycosidic bond. By extension, the terms N-glycosides and C-glycosides are used as class names for glycosylamines and for compounds having a glycosyl group attached to a hydrocarbyl group respectively. These terms are misnomers and should not be used. The preferred terms are glycosylamines and C-glycosyl compounds, respectively." -MONDO:0013132 "Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy." "SCTID:723819007 DOID:0110787 ICD10:G11.4 OMIM:613096 MESH:C567930 UMLS:C4510078 Orphanet:320365 UMLS:C2936879" +MONDO:0013132 "Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy." "ICD10CM:G11.4 SCTID:723819007 DOID:0110787 OMIM:613096 MESH:C567930 UMLS:C4510078 Orphanet:320365 UMLS:C2936879" MONDO:0005912 "The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning." "MESH:D010623 DOID:5062 ICD9:305.90 EFO:0007436 SCTID:7071007" HP:0003256 "An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators." "SNOMEDCT_US:64779008 MSH:D001778 SNOMEDCT_US:362970003 UMLS:C0005779" UBERON:0000178 MONDO:0013064 "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene." "UMLS:C2751826 OMIM:612961 MESH:C567839 Orphanet:3237" NCBITaxon:633 "PMID:2223608 GC_ID:11 PMID:23919959" -MONDO:0004761 "ICD10:N36.1 DOID:9341 ICD9:599.2" -MONDO:0011732 "Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant." "Orphanet:85169 ICD10:M06.8 OMIM:606835 UMLS:C1847406 MESH:C564656" +MONDO:0004761 "DOID:9341 ICD9:599.2" +MONDO:0011732 "Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant." "Orphanet:85169 ICD10CM:M06.8 OMIM:606835 UMLS:C1847406 MESH:C564656" HP:0002644 "An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs." "UMLS:C4020847" -MONDO:0004662 "An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection." "ICD9:121.6 NCIT:C128389 UMLS:C0152071 DOID:882 ICD10:B66.8 SCTID:22905009" +MONDO:0004662 "An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection." "ICD9:121.6 NCIT:C128389 UMLS:C0152071 DOID:882 SCTID:22905009" MONDO:0006411 "A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor." "ONCOTREE:SNUC GARD:0009249 UMLS:C1710096 NCIT:C54294 EFO:1000527 MESH:C537344 SCTID:697993003" MONDO:0002364 MONDO:0004260 "Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity." "SCTID:79118000 MESH:D010439 EFO:1001389 DOID:752 UMLS:C0267291 UMLS:C0030925" @@ -20836,7 +20828,7 @@ http://identifiers.org/hgnc/9399 GO:1900413 "OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of phospholipid biosynthetic process." GO:1903109 "Any process that activates or increases the frequency, rate or extent of transcription occuring in the mitochondrion." MONDO:0002694 "Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)" "UMLS:C0238454 DOID:3575 SCTID:89980009 MESH:D020226" -MONDO:0001076 "The inability to regulate blood glucose levels resulting in hyperglycemia." "NCIT:C34646 ICD9:271.3 ICD10:R73.09 UMLS:C0271650 MESH:D018149 DOID:10603 SCTID:267426009" +MONDO:0001076 "The inability to regulate blood glucose levels resulting in hyperglycemia." "NCIT:C34646 ICD9:271.3 UMLS:C0271650 MESH:D018149 DOID:10603 SCTID:267426009" MONDO:0008463 "MESH:C566665 OMIM:183500 UMLS:C1866742" GO:0003341 "The directed, self-propelled movement of a cilium." MONDO:0006478 "A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." "NCIT:C5722 UMLS:C1336861 EFO:1000606 ONCOTREE:UCP" @@ -20848,94 +20840,94 @@ http://identifiers.org/hgnc/16877 GO:0005585 "A collagen homotrimer of alpha1(II) chains; type II collagen triple helices associate to form fibrils." MONDO:0005703 MONDO:0020221 "Orphanet:98637" -MONDO:0011390 "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene." "DOID:0111129 MESH:C565831 OMIM:603965 UMLS:C1858915 ICD10:N04.1" +MONDO:0011390 "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene." "DOID:0111129 MESH:C565831 OMIM:603965 UMLS:C1858915" MONDO:0011041 "Ectodermal dysplasia with natal teeth, Turnpenny type is characterised by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant." "MESH:C563347 SCTID:715576000 OMIM:601345 Orphanet:69083 UMLS:C1832444 GARD:0010526" CHR:9606-chr20q11.2 MONDO:0022880 "SCTID:18842008" MONDO:0008462 "OMIM:183400" http://identifiers.org/hgnc/6638 GO:0070483 "The series of events in which a stimulus indicating lowered oxygen tension is received by a cell and converted into a molecular signal. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level." -MONDO:0013164 "Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." "ICD9:277.6 UMLS:C1291512 ICD10:E79.8 OMIM:613161 Orphanet:65287 MESH:C563210 SCTID:124511000" +MONDO:0013164 "Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." "ICD10CM:E79.8 ICD9:277.6 UMLS:C1291512 OMIM:613161 Orphanet:65287 MESH:C563210 SCTID:124511000" MONDO:0044255 "OBSOLETE. Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501)." "OMIM:227220" NCBITaxon:51291 "PMID:25634949 PMID:16079343 PMID:26179278 GC_ID:11 PMID:10319462 PMID:11211265 PMID:10826799" -MONDO:0018860 "Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case." "ICD10:Q04.3 Orphanet:50810 UMLS:CN205181" -MONDO:0011848 "OMIM:607504 ICD10:G44.82" -MONDO:0006571 "A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses." "Wikipedia:Lichen_nitidus EFO:1000725 UMLS:C0162849 ICD9:697.1 ICD10:L44.1 DOID:8573 SCTID:41890004 MESH:D017513" +MONDO:0018860 "Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case." "Orphanet:50810 ICD10CM:Q04.3 UMLS:CN205181" +MONDO:0011848 "ICD10CM:G44.82 OMIM:607504" +MONDO:0006571 "A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses." "Wikipedia:Lichen_nitidus EFO:1000725 ICD10CM:L44.1 UMLS:C0162849 ICD9:697.1 DOID:8573 SCTID:41890004 MESH:D017513" MONDO:0005581 "Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds." "EFO:0005923" MONDO:0000572 "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes." "DOID:0060011" GO:0050880 CL:1000615 "KUPO:0001024" GO:0098771 "Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell." MONDO:0002839 "A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas." "ICDO:8142/3 NCIT:C3190 MESH:D008039 UMLS:C0023743 DOID:4023" -MONDO:0009271 "Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." "SCTID:254116003 ICD9:759.89 MESH:C537799 DOID:0111266 UMLS:C0432255 ICD10:Q82.8 OMIM:231070 Orphanet:2078 GARD:0000413" +MONDO:0009271 "Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." "SCTID:254116003 ICD9:759.89 MESH:C537799 DOID:0111266 UMLS:C0432255 OMIM:231070 Orphanet:2078 ICD10CM:Q82.8 GARD:0000413" MONDO:0006902 MONDO:0001236 "A benign or malignant neoplasm involving the appendix." "MESH:D001063 EFO:0003880 DOID:11240 NCIT:C4434 SCTID:126846004 UMLS:C0003614" UBERON:0000173 http://identifiers.org/hgnc/24054 MONDO:0003307 "NCIT:C6559 UMLS:C1334828 DOID:5155" MONDO:0020222 "Orphanet:98638 UMLS:CN207054" -MONDO:0015404 "Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution." "UMLS:C1275421 Orphanet:141184 SCTID:703294004 ICD10:D18.0" +MONDO:0015404 "Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution." "UMLS:C1275421 Orphanet:141184 SCTID:703294004 ICD10CM:D18.0" MONDO:0044699 "Orphanet:500163" ENVO:00002261 "A portion of soil which is found in a forested area." MONDO:0008461 "UMLS:C1866744 MESH:C566666 OMIM:183350" http://identifiers.org/hgnc/6637 MONDO:0017790 "A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder." "UMLS:C0236048 Orphanet:314022 OMIM:619182 UMLS:CN203740" -MONDO:0005477 "A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" "SCTID:25569003 MESH:D017180 NCIT:C50802 ICD10:I47.2 UMLS:C0042514 EFO:0005306" +MONDO:0005477 "A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" "SCTID:25569003 MESH:D017180 NCIT:C50802 UMLS:C0042514 EFO:0005306 ICD10CM:I47.2" MONDO:0012676 "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene." "Orphanet:667 MESH:C566933 OMIM:611490 DOID:0110944 GARD:0005993" ECTO:9001813 "An exposure to amphiprotic solvent." MONDO:0005694 "A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "MESH:D002430 UMLS:C0007528 NCIT:C4433 DOID:1517 EFO:0007197 SCTID:126839008" -MONDO:0008434 "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." "Orphanet:819 MESH:D058496 GARD:0008197 OMIM:182290 DOID:0060768 UMLS:C0795864 ICD9:758.33 NCIT:C75469 ICD10:Q93.5 SCTID:401315004" +MONDO:0008434 "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." "NCIT:C75469 OMIM:182290 ICD9:758.33 ICD10CM:Q93.5 GARD:0008197 DOID:0060768 MESH:D058496 UMLS:C0795864 SCTID:401315004 Orphanet:819" CL:1000612 "KUPO:0001021" -MONDO:0010561 "Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." "GARD:0006123 Orphanet:192 OMIM:303600 ICD9:759.89 GARD:0008589 ICD10:Q87.0 MESH:C536435 UMLS:C0265252 SCTID:15182000 MESH:D038921 DOID:3783 NCIT:C84643" -MONDO:0008608 "Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects." "NIFSTD:nlx_dys_20090502 ICD9:758.0 DOID:14250 NCIT:C2993 ICD10:Q90.0 UMLS:C0013080 ICD10:Q90.9 ICD10:Q90.1 MESH:D004314 Orphanet:870 ICD10:Q90.2 MedDRA:10044688 ICD10:Q90 OMIM:190685 EFO:0001064 GARD:0010247 SCTID:41040004" +MONDO:0010561 "Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." "GARD:0006123 Orphanet:192 OMIM:303600 ICD10CM:Q87.0 ICD9:759.89 GARD:0008589 MESH:C536435 UMLS:C0265252 SCTID:15182000 MESH:D038921 DOID:3783 NCIT:C84643" +MONDO:0008608 "Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects." "ICD10CM:Q90.1 NIFSTD:nlx_dys_20090502 ICD9:758.0 DOID:14250 NCIT:C2993 UMLS:C0013080 ICD10CM:Q90.2 ICD10CM:Q90.9 MESH:D004314 ICD10CM:Q90.0 Orphanet:870 MedDRA:10044688 OMIM:190685 EFO:0001064 GARD:0010247 SCTID:41040004" HP:0010985 "A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes." "UMLS:C4023613" MONDO:0014939 "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene." "OMIM:617143 UMLS:C4310694 DOID:0110661" MONDO:0021540 "A hamartoma (disease) that involves the lung." "NCIT:C3497 UMLS:C0149927 SCTID:254644003 ICD9:235.7" ENVO:01001790 MONDO:0100388 "Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)" "NCIT:C36523" -MONDO:0011849 "Joint inflammation associated with psoriasis." "SCTID:156370009 DOID:9008 ICD10:L40.5 NCIT:C61277 ICD9:696.0 ICD10:L40.50 MESH:D015535 UMLS:C0003872 EFO:0003778 Orphanet:40050" +MONDO:0011849 "Joint inflammation associated with psoriasis." "SCTID:156370009 DOID:9008 NCIT:C61277 ICD9:696.0 MESH:D015535 UMLS:C0003872 EFO:0003778 Orphanet:40050" http://identifiers.org/hgnc/5439 -MONDO:0017214 "Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2)." "Orphanet:28 ICD10:E71.1 SCTID:69614003 OMIM:251110 OMIM:251100 GARD:0012623 OMIM:277410" +MONDO:0017214 "Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2)." "Orphanet:28 ICD10CM:E71.1 SCTID:69614003 OMIM:251110 OMIM:251100 GARD:0012623 OMIM:277410" UBERON:0008408 GO:1902850 "Any microtubule cytoskeleton organization that is involved in mitosis." MONDO:0020223 "Orphanet:98639" -MONDO:0020489 "Orphanet:99763 ICD10:E27.4 DOID:0080626 UMLS:C4289986 OMIM:610600 OMIM:203400" +MONDO:0020489 "ICD10CM:E27.4 Orphanet:99763 DOID:0080626 UMLS:C4289986 OMIM:610600 OMIM:203400" UBERON:0000463 "Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body."@en UBERON:0000463 "Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body." MONDO:0007003 GO:0071071 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids." -MONDO:0005992 "A parasitic infection caused by larvae of worms of the genus Trichinella. It is transmitted to humans by ingesting raw or undercooked meat from infected animals. Signs and symptoms include abdominal discomfort, nausea, vomiting, fever, diarrhea, headache, coughing, myalgias, arthralgias, and eye swelling." "ICD10:B75 EFO:0007520 DOID:9784 ICD9:124 NCIT:C85199" +MONDO:0005992 "A parasitic infection caused by larvae of worms of the genus Trichinella. It is transmitted to humans by ingesting raw or undercooked meat from infected animals. Signs and symptoms include abdominal discomfort, nausea, vomiting, fever, diarrhea, headache, coughing, myalgias, arthralgias, and eye swelling." "EFO:0007520 DOID:9784 ICD9:124 NCIT:C85199" http://identifiers.org/hgnc/6636 PATO:0000992 "A physical quality of a liquid inhering in a bearer by virtue of the bearer's disposition to internal resistance to flow." UBERON:0018247 CL:0000358 "A smooth muscle cell that is part of a sphincter. A sphincter is a typically circular muscle that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning." -MONDO:0010466 "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene." "ICD10:Q87.8 OMIM:300868 GARD:0012777 Orphanet:300496 UMLS:C3275508 DOID:0080139" +MONDO:0010466 "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene." "OMIM:300868 GARD:0012777 ICD10CM:Q87.8 Orphanet:300496 UMLS:C3275508 DOID:0080139" MONDO:0005308 "A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function." "OMIM:244400 DOID:0060340 MESH:D002925 EFO:0003900 UMLS:CN580792 GTR:AN0966173 Orphanet:363250" MONDO:0044001 "Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear." "EFO:1001803 NCIT:C26974 MESH:D046089 SCTID:77507001 UMLS:C0155552" http://identifiers.org/hgnc/470 MONDO:0003309 http://identifiers.org/hgnc/5438 -MONDO:0019441 "Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein." "OMIM:105210 ICD10:E85.4+ ICD10:I43.1* Orphanet:85451 SCTID:715655000" +MONDO:0019441 "Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein." "ICD10EXP:E85.4+ OMIM:105210 ICD10EXP:I43.1* Orphanet:85451 SCTID:715655000" GO:0001570 "The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes." UBERON:0000171 -MONDO:0008156 "A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." "UMLS:C3179239 DOID:0110938 OMIM:166600 Orphanet:53 GARD:0000383 ICD10:Q78.2 SCTID:725050005" -MONDO:0018165 "Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis." "ICD10:G54.0 SCTID:25981000119102 UMLS:C1956396 Orphanet:357131" +MONDO:0008156 "A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." "UMLS:C3179239 DOID:0110938 OMIM:166600 Orphanet:53 GARD:0000383 ICD10CM:Q78.2 SCTID:725050005" +MONDO:0018165 "Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis." "SCTID:25981000119102 UMLS:C1956396 Orphanet:357131 ICD10CM:G54.0" MONDO:0004307 "A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis." "ICDO:9539/3 DOID:7613 NCIT:C4334 UMLS:C0334612" GO:0006022 "The chemical reactions and pathways involving aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages." MONDO:0022885 ECTO:6000016 "An exposure event involving Personal Behavior" MONDO:0014346 "UMLS:C4014321 Orphanet:171723 OMIM:615785" GO:2000678 "Any process that stops, prevents or reduces the frequency, rate or extent of transcription regulatory region DNA binding." -MONDO:0019129 "This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies." "UMLS:CN227576 ICD10:Q87.8 SCTID:717813005 Orphanet:73223" +MONDO:0019129 "This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies." "UMLS:CN227576 SCTID:717813005 Orphanet:73223 ICD10CM:Q87.8" MONDO:0002685 "A choroid plexus carcinoma that occurs during childhood." "NCIT:C124292 UMLS:C0280623 NCIT:C42080 DOID:3545" MONDO:0006064 GO:0097186 "The process whose specific outcome is the formation of tooth enamel, occurring in two stages: secretory stage and maturation stage." MONDO:0002107 "ICD9:386.51 DOID:1777 UMLS:C0155515" MONDO:0021421 -MONDO:0011553 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31." "OMIM:605428 UMLS:C1854275 DOID:0110484 ICD10:H90.3 MESH:C565329" +MONDO:0011553 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31." "OMIM:605428 UMLS:C1854275 DOID:0110484 MESH:C565329" GO:0048581 "Any process that stops, prevents, or reduces the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure." MONDO:0004502 "NCIT:C5303 DOID:8216 UMLS:C1335345" -MONDO:0015175 "Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels." "GARD:0010911 UMLS:C2609129 Orphanet:103919 ICD10:K86.1 SCTID:448542008 MedDRA:10069002 DOID:0040091" +MONDO:0015175 "Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels." "GARD:0010911 UMLS:C2609129 Orphanet:103919 SCTID:448542008 MedDRA:10069002 DOID:0040091 ICD10CM:K86.1" HP:0000174 "Any abnormality of the palate, i.e., of roof of the mouth." "UMLS:C4021815" MONDO:0007262 MONDO:0008159 "Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." "UMLS:C0029458 OMIM:166710 EFO:0003854 SCTID:102447009 MESH:D015663" @@ -20945,16 +20937,16 @@ MONDO:0014347 "UMLS:C4014339 OMIM:615789" HP:0000870 "The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy." "UMLS:C0020514 MSH:D006966 SNOMEDCT_US:237662005" MONDO:0022884 "GARD:0001573" GO:0001909 "The directed killing of a target cell by a leukocyte." -MONDO:0002335 "An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms." "MESH:D020277 DOID:2536 SCTID:444728005 ICD10:G61.81 SCTID:128209004 ICD9:357.81 NCIT:C84636" -MONDO:0024182 "DOID:0070318 ICD10CM:E51.11" -MONDO:0008894 "Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait." "UMLS:C0796282 OMIM:211770 MESH:C537959 SCTID:722379001 Orphanet:1375 ICD10:Q87.8" +MONDO:0002335 "An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms." "MESH:D020277 DOID:2536 SCTID:444728005 SCTID:128209004 ICD10CM:G61.81 ICD9:357.81 NCIT:C84636" +MONDO:0024182 "DOID:0070318" +MONDO:0008894 "Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait." "ICD10CM:Q87.8 UMLS:C0796282 OMIM:211770 MESH:C537959 SCTID:722379001 Orphanet:1375" http://identifiers.org/hgnc/18179 MONDO:0013149 "MESH:C567731 OMIM:613124 UMLS:C2751073" MONDO:0008200 "MESH:C566823 Orphanet:411602 DOID:0060367 OMIM:168601 Orphanet:171695" GO:0033157 "Any process that modulates the frequency, rate or extent of the directed movement of proteins within cells." NCBITaxon:241475 "GC_ID:1" -MONDO:0009570 "A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism." "Orphanet:2471 GARD:0003424 MESH:C538158 OMIM:248950 SCTID:715441004 UMLS:C0796038 ICD10:Q87.8" -MONDO:0005756 "An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus." "NCIT:C34597 SCTID:18643000 UMLS:C0015029 DOID:9507 MESH:D015521 ICD10:J32.2 EFO:0007264" +MONDO:0009570 "A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism." "Orphanet:2471 GARD:0003424 MESH:C538158 OMIM:248950 SCTID:715441004 UMLS:C0796038 ICD10CM:Q87.8" +MONDO:0005756 "An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus." "NCIT:C34597 SCTID:18643000 UMLS:C0015029 DOID:9507 MESH:D015521 ICD10CM:J32.2 EFO:0007264" NCBITaxon:2826938 "PMID:32373076 GC_ID:11" MONDO:0020484 "Orphanet:99739" MONDO:0022883 "GARD:0001570" @@ -20964,12 +20956,12 @@ CHEBI:32487 "An optically active form of phenylalaninium having L-configuration. GO:0012505 "A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles." HP:0012735 "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." "SNOMEDCT_US:263731006 MSH:D003371 SNOMEDCT_US:272039006 SNOMEDCT_US:49727002 UMLS:C0010200" MONDO:0022398 "A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs." "GARD:0009211" -MONDO:0020357 "A congenital abnormality in which a part of the upper or lower eyelid tissue is missing." "Orphanet:98946 SCTID:95202004 UMLS:C0521573 ICD10:Q10.3 NCIT:C98878" +MONDO:0020357 "A congenital abnormality in which a part of the upper or lower eyelid tissue is missing." "ICD10CM:Q10.3 Orphanet:98946 SCTID:95202004 UMLS:C0521573 NCIT:C98878" MONDO:0000345 "A disease caused by infection with Oropouche virus." "SCTID:72880002 MEDGEN:547314 DOID:0050521 UMLS:C0276386" NCBITaxon:11102 "GC_ID:1" -MONDO:0008163 "Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated." "GARD:0004169 UMLS:C3714941 Orphanet:2792 OMIM:615560 OMIM:166780 UMLS:C1833691 OMIMPS:166780 ICD10:Q87.0" -MONDO:0011969 "A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation." "GARD:0009834 ICD10:E77.8 SCTID:720977000 OMIM:608104 DOID:0080560 MESH:C535746 Orphanet:79325 UMLS:C2931002" -MONDO:0001383 "Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness." "UMLS:C0154778 ICD10:H44.2 EFO:0004207 SCTID:32022003 DOID:11829 MESH:D047728 ICD9:360.21" +MONDO:0008163 "Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated." "GARD:0004169 UMLS:C3714941 Orphanet:2792 OMIM:615560 OMIM:166780 UMLS:C1833691 OMIMPS:166780 ICD10CM:Q87.0" +MONDO:0011969 "A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation." "GARD:0009834 ICD10CM:E77.8 SCTID:720977000 OMIM:608104 DOID:0080560 MESH:C535746 Orphanet:79325 UMLS:C2931002" +MONDO:0001383 "Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness." "UMLS:C0154778 EFO:0004207 SCTID:32022003 DOID:11829 ICD10CM:H44.2 MESH:D047728 ICD9:360.21" GO:0043207 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things." CL:0000050 "A progenitor cell committed to the megakaryocyte and erythroid lineages." UBERON:0000170 @@ -20981,25 +20973,25 @@ MONDO:0002106 "ICD9:386.55 DOID:1776 UMLS:C0155519" UBERON:0010850 http://identifiers.org/hgnc/21555 MONDO:0021684 -MONDO:0019464 "Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains." "SCTID:68979007 MESH:D006362 UMLS:C0018852 NCIT:C3083 SCTID:109984001 DOID:0060125 ICD9:273.2 SCTID:61493004 ICD10:C88.2 NCIT:C3892 Orphanet:86864 NCIT:C3082 ICD10:C88.3 EFO:1001341 ICDO:9762/3 MedDRA:10019350" +MONDO:0019464 "Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains." "SCTID:68979007 ICD10CM:C88.3 MESH:D006362 UMLS:C0018852 NCIT:C3083 SCTID:109984001 DOID:0060125 ICD10CM:C88.2 ICD9:273.2 SCTID:61493004 NCIT:C3892 Orphanet:86864 NCIT:C3082 EFO:1001341 ICDO:9762/3 MedDRA:10019350" MONDO:0013805 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene." "DOID:0070043 UMLS:C3281202 Orphanet:178469 OMIM:614563" -MONDO:0020464 "Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment." "ICD10:Q10.1 UMLS:CN207327 Orphanet:99172 SCTID:400954002" -MONDO:0011011 "Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait." "SCTID:715428003 UMLS:C0796046 Orphanet:1858 OMIM:601187 ICD10:Q87.5 GARD:0000350 MESH:C537625" -MONDO:0017904 "Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease." "ICD10:K76.8 Orphanet:3196 UMLS:C2931508 GARD:0005015 MESH:C537490 SCTID:723583009" +MONDO:0020464 "Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment." "ICD10CM:Q10.1 UMLS:CN207327 Orphanet:99172 SCTID:400954002" +MONDO:0011011 "Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait." "SCTID:715428003 UMLS:C0796046 ICD10CM:Q87.5 Orphanet:1858 OMIM:601187 GARD:0000350 MESH:C537625" +MONDO:0017904 "Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease." "Orphanet:3196 UMLS:C2931508 GARD:0005015 ICD10CM:K76.8 MESH:C537490 SCTID:723583009" MONDO:0016721 "Orphanet:251905 UMLS:CN201969" MONDO:0003030 "A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma." "NCIT:C40220 UMLS:C3642326 DOID:4520" GO:0045542 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol." MONDO:0017085 "Orphanet:268843" MONDO:0011864 "OMIM:607594 UMLS:C0009447 UMLS:C3149378 Orphanet:1572" GO:0045930 "Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle." -MONDO:0015789 "Orphanet:178025 ICD10:E23.0" +MONDO:0015789 "ICD10CM:E23.0 Orphanet:178025" MONDO:0008603 "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene." "OMIM:190440 Orphanet:3366" UBERON:0010851 MONDO:0010502 "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene." "OMIM:300968" MONDO:0014924 "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene." "UMLS:C4310709 OMIM:617116" http://identifiers.org/hgnc/3026 MONDO:0009415 "EFO:0006856 UMLS:C0271714 OMIM:240800 SCTID:62151007 GARD:0009915 MESH:C537150" -MONDO:0018283 "Orphanet:371040 ICD10:G71.2" +MONDO:0018283 "ICD10CM:G71.2 Orphanet:371040" MONDO:0010666 "OMIM:309605" http://identifiers.org/hgnc/20342 MONDO:0002915 "A neoplasm that affects the infratentorial region of the brain and occurs during childhood." "UMLS:C1332973 NCIT:C5802 DOID:4207" @@ -21013,25 +21005,25 @@ GO:0120190 "Any process that stops, prevents or reduces the frequency, rate or e MONDO:0015188 "OBSOLETE. A metabolic disease that involves the intestine." "Orphanet:104013 UMLS:CN197528" MONDO:0011863 "OMIM:607592" MONDO:0008216 "OMIM:169545 MESH:C566812 UMLS:C1868511" -MONDO:0015522 "GARD:0010875 Orphanet:157769 SCTID:14821001 ICD10:Q89.3 MedDRA:10059119" +MONDO:0015522 "GARD:0010875 Orphanet:157769 SCTID:14821001 ICD10CM:Q89.3 MedDRA:10059119" UBERON:0010852 -MONDO:0011957 "Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages." "MESH:C562746 ICD10:H35.5 OMIM:608051 Orphanet:319640" -MONDO:0019922 "Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss)." "ICD10:Q99.8 SCTID:766721001 Orphanet:96192" -MONDO:0013687 "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI." "DOID:0080060 UMLS:C3280452 OMIM:614322 ICD10:G11.1 Orphanet:284282" +MONDO:0011957 "Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages." "ICD10CM:H35.5 MESH:C562746 OMIM:608051 Orphanet:319640" +MONDO:0019922 "Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss)." "ICD10CM:Q99.8 SCTID:766721001 Orphanet:96192" +MONDO:0013687 "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI." "DOID:0080060 ICD10CM:G11.1 UMLS:C3280452 OMIM:614322 Orphanet:284282" MONDO:0004213 "A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls." "UMLS:C1520092 NCIT:C40285 DOID:7409" -MONDO:0018284 "ICD10:E77.8 Orphanet:371047" +MONDO:0018284 "ICD10CM:E77.8 Orphanet:371047" GO:0048592 "The process in which the anatomical structures of the eye are generated and organized." MONDO:0014745 "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene." "DOID:0110673 OMIM:616720 UMLS:C4225235" http://identifiers.org/hgnc/2928 http://identifiers.org/hgnc/19353 -MONDO:0009679 "MESH:C564985 OMIM:253900 ICD10:M62.8 Orphanet:1155 UMLS:C1850865 DOID:0110631 GARD:0000779" -MONDO:0009188 "Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait." "GARD:0002168 OMIM:226850 Orphanet:1951 MESH:C535497 UMLS:C1856929 ICD10:G40.8" +MONDO:0009679 "MESH:C564985 OMIM:253900 Orphanet:1155 UMLS:C1850865 ICD10CM:M62.8 DOID:0110631 GARD:0000779" +MONDO:0009188 "Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait." "GARD:0002168 OMIM:226850 Orphanet:1951 ICD10CM:G40.8 MESH:C535497 UMLS:C1856929" MONDO:0006351 "A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities." "ICDO:9373/0 UMLS:C1266175 DOID:2647 ICDO:9373/1 NCIT:C6581 SCTID:404086000 EFO:1000452" http://identifiers.org/hgnc/4226 -MONDO:0005708 "A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni." "SCTID:6452009 MESH:D003121 Orphanet:83595 MedDRA:10010022 EFO:0007213 DOID:4885 ICD10:A93.2 ICD9:066.1 UMLS:C0009400" +MONDO:0005708 "A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni." "SCTID:6452009 MESH:D003121 Orphanet:83595 MedDRA:10010022 ICD10CM:A93.2 EFO:0007213 DOID:4885 ICD9:066.1 UMLS:C0009400" MONDO:0017083 "Orphanet:268832" UBERON:0010854 -MONDO:0019482 "Orphanet:86903 ICD10:C96.4" +MONDO:0019482 "Orphanet:86903 ICD10CM:C96.4" MONDO:0020590 "Infection due to organisms from the genus Mycobacteria." "NCIT:C26831 SCTID:88415009 MESH:D009164 UMLS:C0026918" http://identifiers.org/hgnc/14234 MONDO:0011867 "OMIM:607597 UMLS:C1843492 MESH:C564370" @@ -21039,62 +21031,62 @@ ENVO:00000073 "A permanent walled and roofed construction." CHEBI:29985 "An alpha-amino-acid anion that is the conjugate base of L-glutamic acid, having anionic carboxy groups and a cationic amino group" MONDO:0016611 "A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient." "GARD:0012015 UMLS:C1260965 SCTID:400102008 Orphanet:247762 NCIT:C27483 MESH:D062689" GO:0008236 "Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine)." -MONDO:0015521 "OMIM:603896 ICD10:E75.2 Orphanet:157719 UMLS:CN199660" +MONDO:0015521 "OMIM:603896 ICD10CM:E75.2 Orphanet:157719 UMLS:CN199660" MONDO:0009413 "OMIM:240500 Orphanet:1572 UMLS:C3150354" MONDO:0014240 "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene." "Orphanet:98892 UMLS:C3809872 OMIM:615544 Orphanet:2149" -MONDO:0018608 "Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension." "Orphanet:441 MESH:D054970 SCTID:84438001 UMLS:C0393911 ICD10:G90.3 UMLS:CN205091 GARD:0010428 UMLS:C2931939" +MONDO:0018608 "Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension." "Orphanet:441 MESH:D054970 SCTID:84438001 UMLS:C0393911 UMLS:CN205091 GARD:0010428 UMLS:C2931939 ICD10CM:G90.3" HP:0030718 "Increase in size of the right atrium." "Fyler:2859 UMLS:C0748427 SNOMEDCT_US:67751000119106 Fyler:1771" -MONDO:0001793 "Diseases of the lacrimal apparatus." "ICD9:375.20 SCTID:193982009 NCIT:C50552 MESH:D007766 UMLS:C0152227 ICD10:H04.2 DOID:13757 ICD10:H04.20 ICD9:375.2" +MONDO:0001793 "Diseases of the lacrimal apparatus." "ICD9:375.20 SCTID:193982009 NCIT:C50552 MESH:D007766 UMLS:C0152227 DOID:13757 ICD9:375.2" GO:0120054 "Contractions of the intestinal tract that include peristalsis (moving contents onward) and non-peristaltic movement (moving contents back and forth)." http://identifiers.org/hgnc/37227 MONDO:0030603 "Infections with bacteria of the genus KLEBSIELLA." "MESH:D007710 EFO:1001353 SCTID:721756002 GARD:0010085" -MONDO:0007835 "Telescoping or invagination of a part of the intestine into an adjacent segment." "MESH:D007443 UMLS:C0021933 ICD9:560.0 OMIM:147710 SCTID:49723003 DOID:8446 NCIT:C113484 ICD10:K56.1" -MONDO:0015434 "Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics." "SCTID:88154004 UMLS:C0265475 MESH:C538304 EFO:0001226 ICD10:Q93.2 GARD:0006077 Orphanet:1442" +MONDO:0007835 "Telescoping or invagination of a part of the intestine into an adjacent segment." "ICD10CM:K56.1 MESH:D007443 UMLS:C0021933 ICD9:560.0 OMIM:147710 SCTID:49723003 DOID:8446 NCIT:C113484" +MONDO:0015434 "Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics." "SCTID:88154004 UMLS:C0265475 MESH:C538304 EFO:0001226 ICD10CM:Q93.2 GARD:0006077 Orphanet:1442" http://identifiers.org/hgnc/20340 UBERON:0018251 MONDO:0019481 CHEBI:39000 -MONDO:0006497 "A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain." "UMLS:C0007789 ICD10:G80 ICD9:343.9 ICD10:G80.9 GARD:0010450 MESH:D002547 ICD9:343.8 EFO:1000632 SCTID:128188000 NCIT:C34460 HP:0100021 DOID:1969 CSP:0723-4729" -MONDO:0015786 "UMLS:CN200368 ICD10:Q87.1 Orphanet:177910" +MONDO:0006497 "A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain." "UMLS:C0007789 ICD9:343.9 GARD:0010450 MESH:D002547 ICD9:343.8 EFO:1000632 SCTID:128188000 ICD10CM:G80 NCIT:C34460 HP:0100021 DOID:1969 CSP:0723-4729" +MONDO:0015786 "UMLS:CN200368 Orphanet:177910 ICD10CM:Q87.1" HP:0001596 "A noncongenital process of hair loss, which may progress to partial or complete baldness." "SNOMEDCT_US:278040002 SNOMEDCT_US:56317004 MEDDRA:10001760 MSH:D000505 UMLS:C0002170" -MONDO:0015520 "UMLS:CN199659 ICD10:E75.2 Orphanet:157716 OMIM:603896" -MONDO:0018282 "Orphanet:371024 ICD10:G71.2" +MONDO:0015520 "UMLS:CN199659 Orphanet:157716 OMIM:603896 ICD10CM:E75.2" +MONDO:0018282 "ICD10CM:G71.2 Orphanet:371024" http://identifiers.org/hgnc/19351 GO:0038023 "Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response." MONDO:0033656 "OMIM:619065" -MONDO:0020545 "Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection." "Orphanet:99919 MedDRA:10044250 ICD10:A48.3 SCTID:240450004 ICD9:040.89" +MONDO:0020545 "Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection." "ICD10CM:A48.3 Orphanet:99919 MedDRA:10044250 SCTID:240450004 ICD9:040.89" MONDO:0010405 "OMIM:300704 MESH:C567477 UMLS:C2678047" GO:0043227 "Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane." -MONDO:0019267 "Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." "Orphanet:79312 OMIM:251000 ICD10:E71.1 SCTID:237946002 UMLS:CN205894" +MONDO:0019267 "Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." "Orphanet:79312 OMIM:251000 SCTID:237946002 UMLS:CN205894 ICD10CM:E71.1" MONDO:0014362 "OMIM:615835" -MONDO:0017081 "SCTID:253109005 ICD10:Q01.8 Orphanet:268826" -MONDO:0019903 "Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism)." "ICD10:Q93.2 Orphanet:96171 SCTID:765485000 GARD:0010837 NCIT:C121981 UMLS:C4707448" +MONDO:0017081 "SCTID:253109005 ICD10CM:Q01.8 Orphanet:268826" +MONDO:0019903 "Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism)." "Orphanet:96171 ICD10CM:Q93.2 SCTID:765485000 GARD:0010837 NCIT:C121981 UMLS:C4707448" UBERON:0004708 http://identifiers.org/hgnc/18194 UBERON:0005906 MONDO:0006777 "A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black." "NCIT:C35075 DOID:13500 ICD9:529.8 SCTID:255225007 MESH:D014064 MedDRA:10043960 EFO:1000957 UMLS:C0040414" -MONDO:0015785 "UMLS:CN200367 ICD10:Q87.1 Orphanet:177907" +MONDO:0015785 "UMLS:CN200367 ICD10CM:Q87.1 Orphanet:177907" MONDO:0003550 "An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components." "NCIT:C27421 UMLS:C2063886 DOID:5625" GO:0009161 "The chemical reactions and pathways involving a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar." HsapDv:0000086 "Mature stage that refers to an adolescent who is over 13 and under 19 years old." MONDO:0033655 "OMIM:619064" -MONDO:0014432 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene." "UMLS:C2936863 DOID:0110124 OMIM:209900 ICD10:Q87.89 OMIM:615981 Orphanet:110 MESH:C537910 GARD:0000821" -MONDO:0010149 "Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." "SCTID:237934001 NCIT:C142806 Orphanet:859 GARD:0012338 ICD10:D51.2 UMLS:C0342701 OMIM:275350 DOID:0050818" +MONDO:0014432 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene." "UMLS:C2936863 DOID:0110124 OMIM:209900 OMIM:615981 Orphanet:110 MESH:C537910 GARD:0000821" +MONDO:0010149 "Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." "SCTID:237934001 NCIT:C142806 ICD10CM:D51.2 Orphanet:859 GARD:0012338 UMLS:C0342701 OMIM:275350 DOID:0050818" MONDO:0002806 "A lung carcinoma arising from the bronchial epithelium." "SCTID:363493006 EFO:1001942 UMLS:C0007121 ICD9:162.9 CSP:2017-6052 NCIT:C35875 SCTID:254622008 DOID:3904 MESH:D002283" MONDO:0000485 "A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx." "Orphanet:93961 DOID:0050844 GARD:0007668 UMLS:C1963946 ICD9:478.79 MESH:D055154 SCTID:3331000119108" CL:0000069 GO:0018130 "The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings)." -MONDO:0017082 "ICD10:Q01.8 Orphanet:268829 UMLS:C4023176" +MONDO:0017082 "ICD10CM:Q01.8 Orphanet:268829 UMLS:C4023176" MONDO:0003819 "A mature or immature teratoma that arises from the ovary and occurs in children." "NCIT:C6554 UMLS:C1332992 DOID:6230" UBERON:0004709 MONDO:0009418 "OMIM:241000 MESH:C565482 UMLS:C1855858" MONDO:0013302 "A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1." "DOID:0111118 UMLS:C3150796 Orphanet:84081 OMIM:613550" -MONDO:0009052 "An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32." "OMIM:219100 MESH:C562628 ICD10:Q82.8 UMLS:CN033664 DOID:0070135 SCTID:59451000 Orphanet:90349" +MONDO:0009052 "An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32." "OMIM:219100 MESH:C562628 UMLS:CN033664 DOID:0070135 SCTID:59451000 Orphanet:90349" NCBITaxon:1760 "PMID:28840812 PMID:19244447 PMID:11155976 PMID:10028260 GC_ID:11 PMID:30186281 PMID:11321122" UBERON:0036343 CL:0009000 "A sensory neuron of the spinal nerve that senses body position and sends information about how much the muscle is stretched to the spinal cord." MONDO:0012800 "GARD:0010373 MESH:C567418 UMLS:C2677505 OMIM:612099 Orphanet:867" -MONDO:0015784 "ICD10:Q87.1 UMLS:CN200366 Orphanet:177904" +MONDO:0015784 "ICD10CM:Q87.1 UMLS:CN200366 Orphanet:177904" MONDO:0005176 "A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." "PMID:20545565 Wikipedia:Insulitis EFO:0002502" GO:0044438 "OBSOLETE. Any constituent part of a microbody, a cytoplasmic organelle, spherical or oval in shape, that is bounded by a single membrane and contains oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2)." MONDO:0003523 "A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine." "ICDO:8153/1 DOID:5577 MESH:D015408 UMLS:CN206461 NCIT:C3050" @@ -21115,47 +21107,47 @@ MONDO:0012801 "OMIM:612100" UBERON:0008404 UBERON:0006009 GO:0051055 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids." -MONDO:0015783 "Orphanet:177901 ICD10:Q87.1 UMLS:CN200365" +MONDO:0015783 "ICD10CM:Q87.1 Orphanet:177901 UMLS:CN200365" UBERON:0005908 GO:0097722 "Any process involved in the controlled movement of a sperm cell." -MONDO:0009616 "Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive." "OMIM:251190 SCTID:715482004 UMLS:C1855089 MESH:C537321 ICD10:Q87.1 Orphanet:2643 GARD:0003602" -MONDO:0006956 "A group of infectious diseases that is caused by Rickettsia." "ICD9:083.9 Orphanet:102021 UMLS:C0035585 MedDRA:10061495 MESH:D012282 SCTID:37246009 EFO:1001162 NCIT:C34991" +MONDO:0009616 "Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive." "OMIM:251190 SCTID:715482004 UMLS:C1855089 MESH:C537321 Orphanet:2643 GARD:0003602 ICD10CM:Q87.1" +MONDO:0006956 "A group of infectious diseases that is caused by Rickettsia." "ICD9:083.9 Orphanet:102021 ICD10CM:A75-A79 UMLS:C0035585 MedDRA:10061495 MESH:D012282 SCTID:37246009 EFO:1001162 NCIT:C34991" MONDO:0003859 "Meningiomas that affects both optic nerves." "UMLS:C1332551 NCIT:C5304 DOID:6335" MONDO:0010406 "OMIM:300705 Orphanet:777" MONDO:0033657 "OMIM:619071" -MONDO:0017895 "A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients." "UMLS:C3896673 OMIM:188470 Orphanet:319487 OMIM:603744 OMIM:616534 OMIM:603386 NCIT:C118829 ICD10:C73 OMIM:616535 OMIM:188550 OMIM:606240 UMLS:CN227215" -MONDO:0014268 "Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma." "OMIM:615593 ICD10:D81.8 Orphanet:431149 UMLS:C3810053 SCTID:766879006" -MONDO:0017224 "Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22)." "UMLS:CN202706 ICD10:E75.2 Orphanet:280229" +MONDO:0017895 "A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients." "UMLS:C3896673 OMIM:188470 Orphanet:319487 OMIM:603744 OMIM:616534 ICD10CM:C73 OMIM:603386 NCIT:C118829 OMIM:616535 OMIM:188550 OMIM:606240 UMLS:CN227215" +MONDO:0014268 "Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma." "OMIM:615593 ICD10CM:D81.8 Orphanet:431149 UMLS:C3810053 SCTID:766879006" +MONDO:0017224 "Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22)." "ICD10CM:E75.2 UMLS:CN202706 Orphanet:280229" MONDO:0003142 "A primitive neuroectodermal tumor that involves the brain." "NCIT:C5817 UMLS:C1334246 DOID:4788" ECTO:9001701 "An exposure to reagent." MONDO:0016980 "UMLS:CN202282 Orphanet:263355" -MONDO:0017080 "ICD10:Q01.2 SCTID:42376006 Orphanet:268823" +MONDO:0017080 "ICD10CM:Q01.2 SCTID:42376006 Orphanet:268823" UBERON:0009603 -MONDO:0016676 "Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported." "UMLS:C1860229 ICD10:E83.2 Orphanet:251523 OMIM:194470" -MONDO:0015073 "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder." "UMLS:C3273116 Orphanet:100086 UMLS:CN197366 ICD10:C23 NCIT:C96918" +MONDO:0016676 "Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported." "UMLS:C1860229 ICD10CM:E83.2 Orphanet:251523 OMIM:194470" +MONDO:0015073 "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder." "UMLS:C3273116 Orphanet:100086 ICD10CM:C23 UMLS:CN197366 NCIT:C96918" UBERON:0015751 CHEBI:15705 "Any alpha-amino acid having L-configuration at the alpha-carbon." GO:0051223 "Any process that modulates the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." NCBITaxon:1762 "PMID:19244447 GC_ID:11 PMID:30186281 PMID:29497402" -MONDO:0011601 "Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." "UMLS:C1853942 GARD:0010214 OMIM:605814 UMLS:C4274030 MESH:C536398 SCTID:717155003 ICD10:E72.2 Orphanet:247598" +MONDO:0011601 "Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." "UMLS:C1853942 GARD:0010214 OMIM:605814 ICD10CM:E72.2 UMLS:C4274030 MESH:C536398 SCTID:717155003 Orphanet:247598" MONDO:0002798 "A central nervous system embryonal tumor, not otherwise specified that occurs in childhood." "DOID:3870 UMLS:C1332957 NCIT:C5961" UBERON:0006008 MONDO:0020577 "A germ cell tumor that arises from the testis or ovary and occurs during childhood." "NCIT:C114801 UMLS:C3899657" -MONDO:0005698 "A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis." "MESH:D002581 ICD9:622.5 SCTID:17382005 ICD9:654.50 DOID:9681 EFO:0007202 NCIT:C50607 ICD10:N88.3" -MONDO:0005006 "A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue." "UMLS:C0334488 ICDO:8964/3 UMLS:CN242113 DOID:4880 EFO:0000350 ICD10:C64 ONCOTREE:CCSK Orphanet:457246 NCIT:C4264" +MONDO:0005698 "A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis." "MESH:D002581 ICD9:622.5 SCTID:17382005 ICD9:654.50 DOID:9681 EFO:0007202 NCIT:C50607" +MONDO:0005006 "A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue." "UMLS:C0334488 ICDO:8964/3 UMLS:CN242113 DOID:4880 EFO:0000350 ONCOTREE:CCSK ICD10CM:C64 Orphanet:457246 NCIT:C4264" MONDO:0033658 "OMIM:619072" MONDO:0013167 "UMLS:C2751012 OMIM:613164 MESH:C567726" MONDO:0009416 "OMIM:240900 Orphanet:293964 UMLS:CN203155" -MONDO:0018025 "UMLS:C1510437 SCTID:52636001 ICD9:692.73 Orphanet:330064 ICD10:L57.8" +MONDO:0018025 "UMLS:C1510437 SCTID:52636001 ICD9:692.73 Orphanet:330064 ICD10CM:L57.8" MONDO:0100366 "Any disorder that is realized in response to an exposure to occupation." MONDO:0033652 "OMIM:619061" UBERON:0005068 MONDO:0003583 UBERON:0004704 -MONDO:0014015 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene." "OMIM:615030 UMLS:C3539507 DOID:0110808 ICD10:G11.4 Orphanet:320411" +MONDO:0014015 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene." "OMIM:615030 ICD10CM:G11.4 UMLS:C3539507 DOID:0110808 Orphanet:320411" CHEBI:26082 NCBITaxon:53436 "GC_ID:11" -MONDO:0011459 "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene." "MESH:C565776 OMIM:604400 UMLS:C1858379 DOID:0110074 Orphanet:217656 ICD10:I42.8" +MONDO:0011459 "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene." "MESH:C565776 OMIM:604400 UMLS:C1858379 DOID:0110074 Orphanet:217656" MONDO:0017926 "UMLS:CN204064 Orphanet:324299" MONDO:0000824 "DOID:0060774 UMLS:CN232319 OMIMPS:214700" MONDO:0030059 "OMIM:618916" @@ -21170,7 +21162,7 @@ CL:0000562 "An erythrocyte having a nucleus." MONDO:0024430 "A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus." "MESH:D066190" GO:0003093 "Any process that modulates the frequency, rate or extent of glomerular filtration. Glomerular filtration is the process in which blood is filtered by the glomerulus into the renal tubule." MONDO:0004780 "ICD9:410.60 DOID:9407" -MONDO:0006978 "Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)" "DOID:2533 EFO:1001190 GARD:0009973 ICD9:289.59 ICD10:D73.5 MedDRA:10041648 UMLS:C0037998 SCTID:22996003 MESH:D013159" +MONDO:0006978 "Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)" "DOID:2533 EFO:1001190 GARD:0009973 ICD9:289.59 MedDRA:10041648 UMLS:C0037998 ICD10CM:D73.5 SCTID:22996003 MESH:D013159" CHEBI:16234 MONDO:0009095 "Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive." "Orphanet:1657 SCTID:721090002 OMIM:221810 MESH:C535373 UMLS:C1857301 GARD:0001814" MONDO:0016728 @@ -21185,75 +21177,73 @@ MONDO:0002493 "An invasive adenocarcinoma of the prostate gland composed of secr GO:0016860 "Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor are the same molecule, and no oxidized product appears." MONDO:0004040 "A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria." "DOID:6932 NCIT:C39859 UMLS:C1511190 SCTID:447765004" MONDO:0012819 "The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids." "DOID:1837 OMIM:612227 MedDRA:10012671 ICD9:250.10 MESH:D016883 ICD9:250.1 EFO:1000897 UMLS:C0011880 SCTID:420422005 NCIT:C50530" -MONDO:0019487 "ICD10:G40.4 Orphanet:86911 SCTID:230422001" -MONDO:0100288 "An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration." "MESH:C564835 OMIM:268100 DOID:0090059 Orphanet:53540 UMLS:C1849394 ICD10:H35.5" +MONDO:0019487 "ICD10CM:G40.4 Orphanet:86911 SCTID:230422001" +MONDO:0100288 "An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration." "MESH:C564835 OMIM:268100 ICD10CM:H35.5 DOID:0090059 Orphanet:53540 UMLS:C1849394" MONDO:0019221 -MONDO:0000823 UBERON:0002308 http://identifiers.org/hgnc/10798 UBERON:0003506 UBERON:0005903 UBERON:0006264 GO:0018215 "The modification of a protein amino acid by phosphopantetheinylation." -MONDO:0013969 "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene." "OMIM:614922 UMLS:C3554067 DOID:0111481 ICD10:G31.8 Orphanet:324535" +MONDO:0013969 "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene." "OMIM:614922 UMLS:C3554067 DOID:0111481 Orphanet:324535 ICD10CM:G31.8" CHEBI:77974 "A food additive that is a (generally inert) gas which is used to envelop foodstuffs during packing and so protect them from unwanted chemical reactions such as food spoilage or oxidation during subsequent transport and storage. The term includes propellant gases, used to expel foods from a container." GO:0043062 "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite." MONDO:0004042 "A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue." "NCIT:C6173 UMLS:C1336887 DOID:6934" CL:0009029 "A mesothelial cell that is located in a vermiform appendix." MONDO:0033654 "OMIM:619063" -MONDO:0018289 "ICD10:E77.8 Orphanet:371176" -MONDO:0018023 "OMIM:617971 UMLS:CN204238 Orphanet:330041 UMLS:C3665425 SCTID:74912001 ICD10:D74.0 GARD:0013007 MESH:C581942" -MONDO:0011243 "Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases." "ICD10:Q87.8 OMIM:602531 SCTID:717824007 MESH:C566529 UMLS:C1865267 Orphanet:79094" +MONDO:0018289 "ICD10CM:E77.8 Orphanet:371176" +MONDO:0018023 "OMIM:617971 UMLS:CN204238 Orphanet:330041 UMLS:C3665425 SCTID:74912001 ICD10CM:D74.0 GARD:0013007 MESH:C581942" +MONDO:0011243 "Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases." "OMIM:602531 ICD10CM:Q87.8 SCTID:717824007 MESH:C566529 UMLS:C1865267 Orphanet:79094" MONDO:0024238 "A neurodegenerative disease that involves the telencephalon." "UMLS:C0154671 ICD9:331.9 SCTID:418143002" MONDO:0005614 "A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma." "DOID:5637 ONCOTREE:PAASC UMLS:C1335299 EFO:0006732 NCIT:C5721" MONDO:0022020 "Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions" "GARD:0000945 MESH:C537939 UMLS:C2931668" -MONDO:0006210 "A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." "EFO:1000256 DOID:5015 NCIT:C4131 UMLS:C0334287 ONCOTREE:FLC ICDO:8171/3 MESH:C537258 ICD10:C22.0 Orphanet:401920 GARD:0009396 SCTID:253018005" +MONDO:0006210 "A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers." "EFO:1000256 DOID:5015 NCIT:C4131 UMLS:C0334287 ONCOTREE:FLC ICDO:8171/3 MESH:C537258 ICD10CM:C22.0 Orphanet:401920 GARD:0009396 SCTID:253018005" MONDO:0006460 "A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck." "MESH:D013955 SCTID:39462005 Orphanet:489 ICD9:759.2 NCIT:C85189 EFO:1000585" MONDO:0012419 "Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene." "OMIM:610149 MESH:C565718 DOID:0110019 UMLS:C1857813" HP:0004307 "Developmental defect characterized by an anomalous anatomic location of the heart." "UMLS:C4025359" -MONDO:0018321 "Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms." "SCTID:725146001 OMIM:615530 UMLS:C4510873 UMLS:CN204972 OMIM:615528 Orphanet:391411 ICD10:G20" +MONDO:0018321 "Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms." "SCTID:725146001 OMIM:615530 UMLS:C4510873 ICD10CM:G20 UMLS:CN204972 OMIM:615528 Orphanet:391411" UBERON:0004706 -MONDO:0000821 MONDO:0045020 "A disease that has its basis in the disruption of glycine metabolic process." "SCTID:83076007 UMLS:C0268558" GO:2000194 "Any process that modulates the frequency, rate or extent of female gonad development." NCBITaxon:642 "PMID:12807216 PMID:15388703 GC_ID:11 PMID:12067377 PMID:19567585 PMID:17012583 PMID:17158971 PMID:1380286 PMID:7520733 PMID:16560691 PMID:8347521 PMID:1380289 PMID:11155981 PMID:8934910" -MONDO:0017900 "Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." "Orphanet:319547 UMLS:CN203956 ICD10:D84.8 OMIM:614889" +MONDO:0017900 "Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." "Orphanet:319547 UMLS:CN203956 OMIM:614889 ICD10CM:D84.8" MONDO:0003994 "A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma." "DOID:6788 UMLS:C1511275 NCIT:C40268" MONDO:0002650 "A carcinoma that arises from epithelial cells of the scrotum." "NCIT:C6389 DOID:3445 UMLS:C1370468" MONDO:0002803 "Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate." "MESH:D007418 ICD9:569.89 EFO:1000988 SCTID:235825006 DOID:3878 GARD:0006789 NCIT:C34733" MONDO:0030057 "OMIM:618914" PATO:0001547 "A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity consisting of particles that have neither a defined volume nor defined shape." HP:0007858 "Punched out lesions in the pigmented layer of the retina." "UMLS:C4072866 UMLS:C1844751" -MONDO:0001896 "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space." "UMLS:C0549423 MESH:D006849 DOID:14159 NCIT:C116347 ICD9:331.4 SCTID:230746009 ICD10:G91.1" +MONDO:0001896 "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space." "UMLS:C0549423 MESH:D006849 ICD10CM:G91.1 DOID:14159 NCIT:C116347 ICD9:331.4 SCTID:230746009" UBERON:0005904 IAO:8000001 "An ontology module that comprises only of asserted axioms local to the ontology, excludes import directives, and excludes axioms or declarations from external ontologies."@en UBERON:0003509 GO:2000469 "Any process that stops, prevents or reduces the frequency, rate or extent of peroxidase activity." GO:0030936 "Any collagen trimer that passes through a lipid bilayer membrane." MONDO:0016726 "UMLS:CN201974 Orphanet:251924" -MONDO:0010185 "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." "Orphanet:26 Orphanet:622 Orphanet:308442 DOID:0050716 GARD:0003582 SCTID:31220004 OMIM:277410 ICD10:E72.1 UMLS:CN205879 Orphanet:79283 MESH:C564743 Orphanet:28 Orphanet:308380" +MONDO:0010185 "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." "Orphanet:26 Orphanet:622 Orphanet:308442 ICD10CM:E72.1 DOID:0050716 GARD:0003582 SCTID:31220004 OMIM:277410 UMLS:CN205879 Orphanet:79283 MESH:C564743 Orphanet:28 Orphanet:308380" MONDO:0021661 "Atherosclerosis of the coronary vasculature." "NCIT:C35505 ICD9:414.00 SCTID:443502000" MONDO:0033653 "OMIM:619062" GO:0051271 "Any process that stops, prevents, or reduces the frequency, rate or extent of the movement of a cellular component." UBERON:0004707 -MONDO:0010188 "Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." "OMIM:277460 ICD9:334.3 ICD10:G11.1 ICD9:269.1 MedDRA:10047631 MESH:C535393 DOID:0090028 GARD:0008595 SCTID:702442008 Orphanet:96" +MONDO:0010188 "Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." "OMIM:277460 ICD9:334.3 ICD9:269.1 MedDRA:10047631 MESH:C535393 DOID:0090028 GARD:0008595 ICD10CM:G11.1 SCTID:702442008 Orphanet:96" MONDO:0013620 "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene." "Orphanet:590 DOID:0110682 OMIM:614198 Orphanet:98913" NCBITaxon:641 "GC_ID:11 PMID:15143042 PMID:8427811 PMID:4954820" MONDO:0022605 MONDO:0000939 "An abscess that is located in the intracranial space." "UMLS:C0021874 ICD9:324.0 SCTID:27614006 DOID:10095 NCIT:C34734" UBERON:0012152 -MONDO:0019223 "Orphanet:79174 ICD10:E71.3 UMLS:CN227590" +MONDO:0019223 "Orphanet:79174 ICD10CM:E71.3 UMLS:CN227590" MONDO:0041752 "A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response." "SCTID:416483009" http://identifiers.org/hgnc/3287 MONDO:0030058 "OMIM:618915" GO:0045541 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol." -MONDO:0017572 "Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis." "GARD:0005216 EFO:1001309 ICD10:A84.9 NCIT:C34579 MedDRA:10043848 ICD10:A84.1 ICD10:A84.0 UMLS:C0014061 Orphanet:297 MESH:D004675 ICD9:063.2 DOID:0050175 ICD10:A84.8" +MONDO:0017572 "Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis." "GARD:0005216 EFO:1001309 NCIT:C34579 MedDRA:10043848 ICD10CM:A84.0 ICD10CM:A84.1 UMLS:C0014061 ICD10CM:A84.8 Orphanet:297 ICD10CM:A84.9 MESH:D004675 ICD9:063.2 DOID:0050175" UBERON:0003508 -MONDO:0001910 "A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis." "ICD10:E70.29 DOID:14223 ICD9:270.2 MESH:D009794 GARD:0007231 SCTID:410042009 HP:0030764 UMLS:C0028817 NCIT:C84938" +MONDO:0001910 "A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis." "DOID:14223 ICD9:270.2 MESH:D009794 GARD:0007231 SCTID:410042009 HP:0030764 UMLS:C0028817 NCIT:C84938" MONDO:0003160 "OBSOLETE. An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize." MONDO:0002384 CHEBI:60895 "Any alpha-amino acid anion in which the parent amino acid has D-configuration." -MONDO:0013825 "Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene." "OMIM:614616 Orphanet:314373 DOID:0060780 UMLS:C3553270 ICD10:P78.3" +MONDO:0013825 "Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene." "OMIM:614616 Orphanet:314373 DOID:0060780 UMLS:C3553270 ICD10CM:P78.3" MONDO:0018287 "Orphanet:371071" HP:0033062 "Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa." UBERON:0003502 @@ -21264,7 +21254,7 @@ MONDO:0011860 "OMIM:607572 Orphanet:548 UMLS:C1843632" UBERON:0005064 GO:0033267 "OBSOLETE. A part of an axon, a cell projection of a neuron." MONDO:0020097 "OBSOLETE. Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature." "Orphanet:98357 UMLS:CN207000" -MONDO:0003454 "A malignant neoplasm involving the conjunctiva." "DOID:5467 ICD9:190.3 NCIT:C2961 SCTID:363463000 NCIT:C3564 ICD10:C69.0" +MONDO:0003454 "A malignant neoplasm involving the conjunctiva." "DOID:5467 ICD9:190.3 NCIT:C2961 SCTID:363463000 NCIT:C3564" MONDO:0030055 "OMIM:618912" MONDO:0010590 "Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene." "Orphanet:93932 Orphanet:323 UMLS:C0220769 OMIM:305450" MONDO:0044263 "OBSOLETE. An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420." "HGNC:12837" @@ -21273,22 +21263,22 @@ UBERON:0006003 MONDO:0003430 "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin." "UMLS:C0278863 NCIT:C7910 DOID:5396 UMLS:C1334614 NCIT:C5962" UBERON:0012151 MONDO:0020209 "Orphanet:98621 UMLS:CN227819" -MONDO:0018021 "UMLS:CN204237 ICD10:H90.5 Orphanet:330029" -MONDO:0009513 "LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." "UMLS:C1328355 ICD10:Q81.8 OMIM:245660 SCTID:722675000 GARD:0000368 Orphanet:2407 MESH:C537032" -MONDO:0010713 "A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease." "ICD10:D84.1 Orphanet:2966 ICD9:279.8 SCTID:81166004 GARD:0004513 GARD:0009913 OMIM:312060 MESH:C537241 DOID:0111768" +MONDO:0018021 "ICD10CM:H90.5 UMLS:CN204237 Orphanet:330029" +MONDO:0009513 "LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." "UMLS:C1328355 ICD10CM:Q81.8 OMIM:245660 SCTID:722675000 GARD:0000368 Orphanet:2407 MESH:C537032" +MONDO:0010713 "A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease." "Orphanet:2966 ICD9:279.8 SCTID:81166004 GARD:0004513 GARD:0009913 OMIM:312060 MESH:C537241 ICD10CM:D84.1 DOID:0111768" NCBITaxon:1769 "GC_ID:11" NCBITaxon:2701 "GC_ID:11" -MONDO:0016690 "A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults." "ICDO:9424/3 ICD10:C79.1 Orphanet:251607 UMLS:C0334586 ONCOTREE:PXA ICD10:C71.9 DOID:4852 GARD:0010631 NCIT:C4323" -MONDO:0018288 "Orphanet:371157 ICD10:E77.8" -MONDO:0008492 "A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy." "SCTID:765187004 UMLS:C1861456 OMIM:184900 DOID:0111561 ICD10:L98.8 GARD:0005025 Orphanet:2833 OMIM:228020 MESH:C566112 NCIT:C118636" -MONDO:0018022 "ICD10:D56.8 Orphanet:330032 UMLS:CN227251" +MONDO:0016690 "A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults." "ICDO:9424/3 Orphanet:251607 UMLS:C0334586 ONCOTREE:PXA DOID:4852 GARD:0010631 NCIT:C4323 ICD10CM:C79.1" +MONDO:0018288 "Orphanet:371157 ICD10CM:E77.8" +MONDO:0008492 "A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy." "SCTID:765187004 ICD10CM:L98.8 UMLS:C1861456 OMIM:184900 DOID:0111561 GARD:0005025 Orphanet:2833 OMIM:228020 MESH:C566112 NCIT:C118636" +MONDO:0018022 "Orphanet:330032 ICD10CM:D56.8 UMLS:CN227251" UBERON:0003501 http://identifiers.org/hgnc/4221 MONDO:0013747 "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene." "UMLS:C3280781 Orphanet:98722 OMIM:614430" MONDO:0001183 "ICD9:371.24 SCTID:49362009 DOID:11034 UMLS:C0474442" MONDO:0003580 MONDO:0004059 "Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli." "NCIT:C50778 MESH:D003807 UMLS:C0011432 DOID:698 SCTID:13468005" -MONDO:0001751 "Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system." "SCTID:30144000 ICD9:576.2 UMLS:C0008370 DOID:13580 ICD10:K83.1 NCIT:C83006 MESH:D002779" +MONDO:0001751 "Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system." "SCTID:30144000 ICD9:576.2 UMLS:C0008370 DOID:13580 NCIT:C83006 MESH:D002779" MONDO:0030056 "OMIM:618913" http://identifiers.org/hgnc/10536 http://identifiers.org/hgnc/12933 @@ -21302,7 +21292,7 @@ UBERON:0012150 UBERON:0001105 UBERON:0006268 HP:0003560 "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities." "MSH:D009136 SNOMEDCT_US:193225000 UMLS:C0026850 UMLS:C1864711 SNOMEDCT_US:73297009" -MONDO:0015041 "A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO)" "UMLS:C1318551 ICD10:D46.2 NCIT:C7168 Orphanet:100020" +MONDO:0015041 "A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO)" "ICD10CM:D46.2 UMLS:C1318551 NCIT:C7168 Orphanet:100020" MONDO:0044743 "A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma." "NCIT:C4762 UMLS:C0496763 SCTID:363378008 DOID:8850" BFO:0000031 "A continuant that is dependent on one or other independent continuant bearers. For every instance of A requires some instance of (an independent continuant type) B but which instance of B serves can change from time to time."@en HP:0040211 "An abnormality of the skin of the palm, that is, the skin of the front of the hand." "UMLS:C4073159" @@ -21315,7 +21305,7 @@ MONDO:0033650 "OMIM:619059" UBERON:0003504 UBERON:0005066 MONDO:0019220 "Orphanet:79171 UMLS:CN227587 UMLS:CN043592" -MONDO:0001182 "SCTID:1794009 ICD10:H18.22 DOID:11033 ICD9:371.21 UMLS:C0155109" +MONDO:0001182 "SCTID:1794009 DOID:11033 ICD9:371.21 UMLS:C0155109" CHR:9606-chr11q MONDO:0002924 "A malignant neoplasm arising from smooth muscle." "NCIT:C6511 DOID:4230 UMLS:C1334620" MONDO:0015525 "Orphanet:157808 OMIM:609143 GARD:0009722 MESH:C535762" @@ -21323,7 +21313,7 @@ MONDO:0015128 "A hormonal disorder that occurs when the adrenal glands fail to r http://identifiers.org/hgnc/10535 MONDO:0017087 "Orphanet:268865" GO:0008645 "The process in which hexose is transported across a membrane. Hexoses are aldoses with a chain of six carbon atoms in the molecule." -MONDO:0019486 "UMLS:CN206266 UMLS:C0917800 ICD10:G40.3 Orphanet:86909" +MONDO:0019486 "UMLS:CN206266 UMLS:C0917800 ICD10CM:G40.3 Orphanet:86909" UBERON:0004701 http://identifiers.org/hgnc/12930 UBERON:0002307 @@ -21332,7 +21322,7 @@ UBERON:0003505 http://identifiers.org/hgnc/3024 UBERON:0006267 GO:0016101 "The chemical reactions and pathways involving diterpenoid compounds, terpenoids with four isoprene units." -MONDO:0009104 "Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common." "OMIM:222448 GARD:0001899 ICD9:759.89 MESH:C536390 SCTID:702418009 ICD10:Q87.8 GARD:1899 UMLS:C1857277 Orphanet:2143 DOID:0090144" +MONDO:0009104 "Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common." "OMIM:222448 GARD:0001899 ICD9:759.89 MESH:C536390 SCTID:702418009 ICD10CM:Q87.8 GARD:1899 UMLS:C1857277 Orphanet:2143 DOID:0090144" MONDO:0018285 "Orphanet:371054" MONDO:0044993 "A disease or disorder that involves the sympathetic nervous system." "SCTID:50330009" http://identifiers.org/hgnc/11998 @@ -21345,14 +21335,14 @@ UBERON:0003503 CHR:9606-chr19q13.1 UBERON:0002305 MONDO:0011861 "OMIM:607578" -MONDO:0001181 "DOID:11032 ICD9:371.22 SCTID:27536004 ICD10:H18.23 UMLS:C0155110" +MONDO:0001181 "DOID:11032 ICD9:371.22 SCTID:27536004 UMLS:C0155110" http://identifiers.org/hgnc/4223 -MONDO:0016407 "Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules." "UMLS:C0431694 ICD10:Q60.4 GARD:0004066 DOID:0111142 Orphanet:2260 NCIT:C123202 SCTID:18417009 GARD:4066" +MONDO:0016407 "Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules." "UMLS:C0431694 ICD10CM:Q60.4 GARD:0004066 DOID:0111142 Orphanet:2260 NCIT:C123202 SCTID:18417009 GARD:4066" CHR:9606-chr11p CHEBI:25367 "Any polyatomic entity that is an electrically neutral entity consisting of more than one atom." MONDO:0002525 "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production." "ICD9:272.8 DOID:3146 MedDRA:10061227 NCIT:C97092 ICD9:272.9 SCTID:267431006 UMLS:C0154251 Orphanet:309005" -MONDO:0017088 "Orphanet:268868 ICD10:Q06.0" -MONDO:0007554 "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." "SCTID:90496008 ICD10:Q81.0 ICD9:757.39 OMIM:131900 GARD:0002147 Orphanet:79399" +MONDO:0017088 "Orphanet:268868" +MONDO:0007554 "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." "SCTID:90496008 ICD9:757.39 OMIM:131900 ICD10CM:Q81.0 GARD:0002147 Orphanet:79399" GO:0014062 "Any process that modulates the frequency, rate or extent of the regulated release of serotonin." MONDO:0030054 "OMIM:618910" MONDO:0022609 "GARD:0009313 UMLS:C4013426" @@ -21367,24 +21357,24 @@ HP:0001507 "UMLS:C0262361" IAO:8000004 "An ontology module that consists entirely of axioms that connect or bridge two distinct ontology modules. For example, the Uberon-to-ZFA bridge module."@en MONDO:0044327 "An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure." "UMLS:CN818987 OMIM:617875" MONDO:0000934 "A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "DOID:10070 UMLS:C1334370 NCIT:C6027" -MONDO:0001164 "A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)" "ICD10:F60.2 SCTID:26665006 ICD9:301.7 MESH:D000987 NCIT:C88413 DOID:10939" +MONDO:0001164 "A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)" "SCTID:26665006 ICD9:301.7 MESH:D000987 NCIT:C88413 ICD10CM:F60.2 DOID:10939" CHEBI:35573 SO:0001483 "SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist." -MONDO:0013691 "Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." "UMLS:C3280489 ICD10:Q87.8 OMIM:614326 Orphanet:391646 Orphanet:1305" +MONDO:0013691 "Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." "UMLS:C3280489 OMIM:614326 Orphanet:391646 ICD10CM:Q87.8 Orphanet:1305" MONDO:0006243 "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." "EFO:1000293 NCIT:C66950 ICDO:8576/3 UMLS:C1266090 DOID:0060534" -MONDO:0008438 "Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset." "UMLS:C4510079 GARD:0004925 DOID:0110792 Orphanet:100985 ICD10:G11.4 NCIT:C129981 SCTID:723820001 MESH:C536865 UMLS:C1866855 OMIM:182601" +MONDO:0008438 "Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset." "UMLS:C4510079 GARD:0004925 DOID:0110792 Orphanet:100985 NCIT:C129981 SCTID:723820001 ICD10CM:G11.4 MESH:C536865 UMLS:C1866855 OMIM:182601" MONDO:0006517 "A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor)." "EFO:1000654 UMLS:C0278704 NCIT:C4005" -MONDO:0006688 "An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week." "ICD9:504 GARD:0005976 UMLS:C0006542 ICD10:J66.0 SCTID:13151001 UMLS:C2242894 DOID:10323 NCIT:C84605 MedDRA:10006822 EFO:1000851 MESH:D002095" +MONDO:0006688 "An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week." "ICD9:504 GARD:0005976 UMLS:C0006542 ICD10CM:J66.0 SCTID:13151001 UMLS:C2242894 DOID:10323 NCIT:C84605 MedDRA:10006822 EFO:1000851 MESH:D002095" MONDO:0043678 "A type of chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome." "MESH:D007446 NCIT:C6827" MONDO:0022611 "MESH:C537408 UMLS:C2931486" NCBITaxon:5206 "GC_ID:1" -MONDO:0018324 "Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma." "Orphanet:391490 ICD10:G70.0" +MONDO:0018324 "Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma." "Orphanet:391490 ICD10CM:G70.0" MONDO:0021431 "A squamous cell carcinoma that involves the buccal mucosa." "UMLS:C0280299 NCIT:C4040 SCTID:254437001" MONDO:0004776 CL:1000309 "A fat cell that is part of the epicardial fat." "FMA:261293" CHEBI:26079 MONDO:0002115 -MONDO:0002307 "Inflammation of both the eyelids and the conjunctiva." "SCTID:68659002 DOID:2456 NCIT:C34430 ICD10:H10.5 ICD10:H10.50 ICD9:372.2 ICD9:372.20 UMLS:C0005743" +MONDO:0002307 "Inflammation of both the eyelids and the conjunctiva." "SCTID:68659002 ICD10CM:H10.5 DOID:2456 NCIT:C34430 ICD9:372.2 ICD9:372.20 UMLS:C0005743" ENVO:01001243 "An ecosystem which is determined by communities of plants with a tree growth form and in which members of those communities form continuous or discontinuous regions of canopy cover." MONDO:0019337 "An autoimmune disease characterized by blisters on the skin." "EFO:1000673 UMLS:CN206006 DOID:8502 SCTID:7231009 Orphanet:79669 ICD9:694.9 ICD9:694.8" MONDO:0030051 "OMIM:618906" @@ -21396,21 +21386,21 @@ MONDO:0022876 "GARD:0001547" MONDO:0006111 "A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ." "NCIT:C37266 EFO:1000126 UMLS:C1332559 DOID:5429" GO:1903651 "Any process that activates or increases the frequency, rate or extent of cytoplasmic transport." CP:0000037 "A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell." -MONDO:0008889 "Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco." "ICD10:I73.1 ICD9:443.1 MESH:D013919 UMLS:C0040021 GARD:0005969 DOID:12918 OMIM:211480 SCTID:52403007 Orphanet:36258 NCIT:C35070 MedDRA:10043540 EFO:1001211" -MONDO:0001703 "The absence of or defect in the perception of colors." "UMLS:CN207064 NCIT:C3891 ICD10:H53.5 Orphanet:98658 DOID:13399 ICD9:368.59 SCTID:193683001 ICD10:H53.50 UMLS:C0009398 UMLS:C0242225 ICD9:368.5" +MONDO:0008889 "Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco." "ICD9:443.1 MESH:D013919 UMLS:C0040021 GARD:0005969 DOID:12918 OMIM:211480 SCTID:52403007 Orphanet:36258 NCIT:C35070 MedDRA:10043540 EFO:1001211" +MONDO:0001703 "The absence of or defect in the perception of colors." "UMLS:CN207064 ICD10CM:H53.5 NCIT:C3891 Orphanet:98658 DOID:13399 ICD9:368.59 SCTID:193683001 UMLS:C0009398 UMLS:C0242225 ICD9:368.5" CL:0000561 "Interneuron of the vertebrate retina. They integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer. They lack large axons." "FMA:67766 FBbt:00005127 BTO:0004044" MONDO:0022610 "GARD:0001023" http://identifiers.org/hgnc/9380 BFO:0000003 "An entity that has temporal parts and that happens, unfolds or develops through time."@en BFO:0000003 "An entity that has temporal parts and that happens, unfolds or develops through time." UBERON:0005061 -MONDO:0004775 "ICD10:H20.2 DOID:9388 UMLS:C0339320 SCTID:70461003 ICD9:364.23" +MONDO:0004775 "DOID:9388 UMLS:C0339320 SCTID:70461003 ICD9:364.23" http://identifiers.org/hgnc/25244 GO:0006766 "The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems." MONDO:0020218 "Orphanet:98633 SCTID:251730004" MONDO:0022875 "GARD:0001546" UBERON:0003500 -MONDO:0017156 "OBSOLETE. Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia." "Orphanet:275828 EFO:0009195 ICD10:I27.2 SCTID:697908003 ICD9:416.8 UMLS:C3698315" +MONDO:0017156 "OBSOLETE. Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia." "ICD10CM:I27.2 Orphanet:275828 EFO:0009195 SCTID:697908003 ICD9:416.8 UMLS:C3698315" MONDO:0003577 MONDO:0024171 "GARD:0004629" UBERON:0002302 @@ -21427,18 +21417,17 @@ MONDO:0020219 "Orphanet:98635" NCBITaxon:11118 "GC_ID:1" MONDO:0022874 "GARD:0001542" MONDO:0000291 "Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors." "DOID:0050246 ICD9:323.2 GARD:0012651 UMLS:C0338428 SCTID:230187000" -MONDO:0010010 "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." "Orphanet:798 UMLS:C0265227 MedDRA:10063540 ICD9:759.89 OMIM:269150 MESH:C536632 GARD:0000117 SCTID:18899000 ICD10:Q87.0 NCIT:C129308" +MONDO:0010010 "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." "Orphanet:798 UMLS:C0265227 MedDRA:10063540 ICD9:759.89 OMIM:269150 MESH:C536632 GARD:0000117 SCTID:18899000 NCIT:C129308 ICD10CM:Q87.0" http://identifiers.org/hgnc/6882 -MONDO:0018382 "Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee)." "SCTID:26460006 Orphanet:399329 ICD10:M93.9 EFO:1001317" -MONDO:0015947 "Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome." "SCTID:13059002 MedDRA:10021202 ICD9:757.1 Orphanet:183435 ICD10:Q80" +MONDO:0018382 "Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee)." "SCTID:26460006 Orphanet:399329 EFO:1001317 ICD10CM:M93.9" +MONDO:0015947 "Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome." "SCTID:13059002 MedDRA:10021202 ICD9:757.1 Orphanet:183435 ICD10CM:Q80" MONDO:0021542 "A hemangioma that involves the optic choroid." "NCIT:C4562 UMLS:C0346390 ICD9:228.09 SCTID:255022003" -MONDO:0016216 "Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure." "DOID:0070328 Orphanet:210159 ICD10:C22.0 UMLS:CN200978 UMLS:C0279607 NCIT:C7956" -MONDO:0004789 "An acute or chronic inflammatory process affecting the biliary tract." "UMLS:C0008311 ICD9:576.1 NCIT:C26718 MESH:D002761 DOID:9446 SCTID:82403002 ICD10:K83.0" +MONDO:0016216 "Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure." "DOID:0070328 ICD10CM:C22.0 Orphanet:210159 UMLS:CN200978 UMLS:C0279607 NCIT:C7956" +MONDO:0004789 "An acute or chronic inflammatory process affecting the biliary tract." "UMLS:C0008311 ICD9:576.1 NCIT:C26718 ICD10CM:K83.0 MESH:D002761 DOID:9446 SCTID:82403002" UBERON:0002301 CHR:9606-chr19p13.13 -MONDO:0000817 -MONDO:0013827 "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene." "ICD10:G25.8 OMIM:614618 DOID:0060698 UMLS:C3553288 Orphanet:3197" -MONDO:0004867 "A disease involving the upper respiratory tract." "ICD9:478.19 SCTID:201060008 DOID:974 ICD9:478.9 ICD9:478.1" +MONDO:0013827 "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene." "OMIM:614618 DOID:0060698 UMLS:C3553288 Orphanet:3197" +MONDO:0004867 "A disease involving the upper respiratory tract." "ICD9:478.19 DOID:974 SCTID:201060008 ICD10CM:J00-J06 ICD9:478.9 ICD9:478.1" MONDO:0005531 "Strong dependence, both physiological and emotional, upon morphine." "DOID:2560 EFO:0005612 SCTID:231479000 MESH:D009021" UBERON:0001103 HP:0200036 "Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat." "UMLS:C0037287 SNOMEDCT_US:95319004" @@ -21452,11 +21441,11 @@ GO:0031645 "Any process that stops, prevents, or reduces the frequency, rate or MONDO:0014668 "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene." "DOID:0080360 Orphanet:1561 UMLS:C4225304 OMIM:616501" UBERON:0000167 NCBITaxon:2842407 "GC_ID:1" -MONDO:0011725 "Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1." "MESH:C536213 OMIM:606785 UMLS:C2931132 GARD:0008683 SCTID:68067009 MedDRA:10011387 ICD10:E80.5 Orphanet:205 Orphanet:79235" +MONDO:0011725 "Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1." "MESH:C536213 OMIM:606785 UMLS:C2931132 GARD:0008683 SCTID:68067009 MedDRA:10011387 ICD10CM:E80.5 Orphanet:205 Orphanet:79235" MONDO:0000816 "UMLS:C2930930 OMIMPS:605552 DOID:0060611 MESH:C535554" CHR:9606-chr19p13.12 NCBITaxon:34105 "PMID:24912824 PMID:25858245 GC_ID:11" -MONDO:0000044 "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." "GARD:0006735 OMIMPS:193100 Orphanet:437 ICD10:E83.3 MedDRA:10060873" +MONDO:0000044 "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." "GARD:0006735 OMIMPS:193100 Orphanet:437 ICD10CM:E83.3 MedDRA:10060873" NCBITaxon:644 "PMID:932684 GC_ID:11 PMID:23485124 PMID:19965992 PMID:16560691" CL:1000494 "An epithelial cell that is part of a nephron tubule." "FMA:86785 KUPO:0001022" MONDO:0004772 "UMLS:C0152138 DOID:9378 SCTID:29538005 ICD9:364.22" @@ -21465,20 +21454,19 @@ MONDO:0002111 MONDO:0012474 "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene." "DOID:0060685 OMIM:610353 MESH:C563679 Orphanet:98784 UMLS:C1835905" MONDO:0001082 "A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004" "DOID:10619 SCTID:127232002 ICD9:239.89 NCIT:C35812 NCIT:C35497" MONDO:0003867 "A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" "DOID:6379 NCIT:C6890 ICDO:8728/0 EFO:1000216 UMLS:C1266112" -MONDO:0015716 "Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "ICD10:D67 UMLS:CN200228 Orphanet:169796" +MONDO:0015716 "Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "UMLS:CN200228 ICD10CM:D67 Orphanet:169796" UBERON:0006261 UBERON:0006260 UBERON:0002561 -MONDO:0003576 UBERON:0000168 MONDO:0008470 "Orphanet:163673 MESH:C566660 UMLS:C1866727 OMIM:183850" -MONDO:0017574 "Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." "GARD:0012744 OMIM:300048 SCTID:235828008 OMIM:609629 OMIM:601223 ICD10:K59.8 Orphanet:2978 OMIM:243180" +MONDO:0017574 "Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." "GARD:0012744 ICD10CM:K59.8 OMIM:300048 SCTID:235828008 OMIM:609629 OMIM:601223 Orphanet:2978 OMIM:243180" MONDO:0011784 "Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene." "Orphanet:2573 OMIM:607151 UMLS:C1846689 MESH:C536992" GO:0022410 "A behavioral process involved in the cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm." GO:0051037 "Any process that modulates the frequency, rate or extent of transcription as part of a meiotic cell cycle." MONDO:0024236 "OBSOLETE. A disorder characterized by the progressive loss of function and/or structure of the affected tissues." "NCIT:C27090 ICD9:796.4 SCTID:362975008 UMLS:C1285162" -MONDO:0017398 "3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti." "DOID:0060225 OMIMPS:257920 ICD10:Q87.8 GARD:0001118 OMIM:265050 UMLS:CN230015 OMIM:248340 OMIM:257920 Orphanet:293843 SCTID:720756005" -MONDO:0004758 "A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions." "ICD9:368.42 ICD9:368.43 DOID:9335 MESH:D012607 ICD10:H53.45 ICD10:H53.42 ICD10:H53.43 HP:0000575 ICD9:368.44 ICD9:368.45" +MONDO:0017398 "3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti." "DOID:0060225 OMIMPS:257920 GARD:0001118 OMIM:265050 UMLS:CN230015 OMIM:248340 ICD10CM:Q87.8 OMIM:257920 Orphanet:293843 SCTID:720756005" +MONDO:0004758 "A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions." "ICD9:368.42 ICD9:368.43 DOID:9335 MESH:D012607 HP:0000575 ICD9:368.44 ICD9:368.45" MONDO:0005235 "A plasma cell myeloma lacking clinical manifestations and organ impairment." "DOID:9551 EFO:0003073 NCIT:C7149 SCTID:440422002" MONDO:0022615 "GARD:0001041" NCBITaxon:189359 "GC_ID:1" @@ -21487,12 +21475,12 @@ NCBITaxon:117571 "GC_ID:1" GO:0019882 "The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex." MONDO:0015074 "A benign or malignant neoplasm affecting the thyroid gland." "ONCOTREE:THYROID NCIT:C3414 Orphanet:100087 SCTID:127018007 ICD9:239.7 EFO:0003841" NCBITaxon:37705 -MONDO:0005445 "A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anaemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi." "SCTID:186803007 NCIT:C34771 OMIMPS:608207 MESH:D007898 EFO:0005045 ICD9:085.0 UMLS:C0023290 DOID:9146 ICD10:B55.0" +MONDO:0005445 "A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anaemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi." "SCTID:186803007 NCIT:C34771 OMIMPS:608207 MESH:D007898 EFO:0005045 ICD9:085.0 ICD10CM:B55.0 UMLS:C0023290 DOID:9146" MONDO:0015578 "OBSOLETE. Rare fungal infectious disease." "Orphanet:163591" ECTO:9000433 "An exposure to polycyclic arene." MONDO:0001178 "UMLS:C0155161 SCTID:66139007 DOID:11028 ICD9:372.52" CHEBI:35571 -MONDO:0017857 "Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis." "Orphanet:3176 UMLS:CN203872 ICD10:Q05.9" +MONDO:0017857 "Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis." "Orphanet:3176 UMLS:CN203872 ICD10CM:Q05.9" CL:0000133 "Ectoderm destined to be nervous tissue." PATO:0000068 HP:0000613 "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." "MSH:D020795 UMLS:C4020887 UMLS:C0085636 SNOMEDCT_US:246622003 SNOMEDCT_US:409668002" @@ -21503,7 +21491,7 @@ GO:0060973 "The orderly movement of a cell from one site to another that will co GO:1903027 "Any process that modulates the frequency, rate or extent of opsonization." CL:0002056 "A mature B cell subset originally defined as having being CD45R-positive, IgM-positive, IgD-positive and CD43-negative. Subsequent research demonstrated being CD21-positive and CD23-negative and CD93 negative." GO:0140244 "Any process that regulates translation occurring at the presynapse." -MONDO:0001282 "Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse." "SCTID:22611009 NCIT:C26763 DOID:11424 UMLS:C0014177 ICD10:N80.2 ICD9:617.2" +MONDO:0001282 "Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse." "SCTID:22611009 NCIT:C26763 DOID:11424 UMLS:C0014177 ICD9:617.2" HP:0001698 "Accumulation of fluid within the pericardium." "UMLS:C0031039 MSH:D010490 SNOMEDCT_US:373945007 Fyler:1940" MONDO:0004297 "A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection." "DOID:7599 NCIT:C7998 UMLS:C0279706" UBERON:0001366 @@ -21515,22 +21503,22 @@ MONDO:0013137 "Any central areolar choroidal dystrophy in which the cause of the http://identifiers.org/hgnc/26444 NCBITaxon:5207 "GC_ID:1" MONDO:0020773 "Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)" "NCIT:C84627 ICD9:349.81 MESH:D002559 UMLS:C0007815 SCTID:85638002 GTR:AN1353832 HP:0030998 GTR:AN1355639" -MONDO:0001177 "SCTID:197216007 ICD9:569.2 ICD10:K62.4 DOID:11014" +MONDO:0001177 "SCTID:197216007 ICD9:569.2 DOID:11014" MONDO:0022612 "UMLS:C1304226 GARD:0010454 EFO:0008611" UBERON:0000166 -MONDO:0001159 "A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition." "ICD9:300.14 NCIT:C94330 SCTID:31611000 DOID:10934 MESH:D009105 ICD10:F44.81" +MONDO:0001159 "A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition." "ICD9:300.14 NCIT:C94330 SCTID:31611000 DOID:10934 ICD10CM:F44.81 MESH:D009105" NCBITaxon:60516 "GC_ID:1" -MONDO:0011236 "Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." "GARD:0002818 MESH:C538374 OMIM:602485 GARD:0009930 Orphanet:79299 SCTID:717182006 DOID:0070216 ICD10:E16.1" +MONDO:0011236 "Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." "ICD10CM:E16.1 GARD:0002818 MESH:C538374 OMIM:602485 GARD:0009930 Orphanet:79299 SCTID:717182006 DOID:0070216" MONDO:0012212 "A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones." "Orphanet:91387 DOID:0070235 NCIT:C75119 Orphanet:60030 OMIM:609192 UMLS:C2697933 GARD:0009458 Orphanet:97295" UBERON:0001365 PATO:0001566 "A spatial pattern inhering in a bearer by virtue of the bearer's being spread out or scattered about or divided up." GO:0044262 "The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells." UBERON:0000163 -MONDO:0018113 "Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry." "Orphanet:35098 ICD10:Q67.3 OMIM:615314 OMIM:123100 OMIM:616602" +MONDO:0018113 "Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry." "Orphanet:35098 OMIM:615314 OMIM:123100 OMIM:616602" GO:0007005 "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components." MONDO:0042971 "An infectious embryofetopathy caused by infection with Herpesviridae." "GARD:0002669 GARD:0002670 UMLS:C4275250 SCTID:715337002" http://identifiers.org/hgnc/9121 -MONDO:0010816 "Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys." "MESH:C536259 Orphanet:3010 OMIM:600096 UMLS:C2931142 DOID:0050740 GARD:0000371 ICD10:Q87.8 SCTID:721887007" +MONDO:0010816 "Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys." "MESH:C536259 Orphanet:3010 OMIM:600096 UMLS:C2931142 DOID:0050740 ICD10CM:Q87.8 GARD:0000371 SCTID:721887007" GO:0005739 "A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration." MONDO:0013290 "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene." "Orphanet:33110 UMLS:C3150753 OMIM:613506 DOID:0080588 Orphanet:229717" MONDO:0021067 "A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor." "UMLS:C1334655 NCIT:C6437" @@ -21538,8 +21526,8 @@ CHEBI:63048 "An organic cation resulting from protonation or quaternisation at t GO:0046939 "The process of introducing one or more phosphate groups into a nucleotide to produce a phosphorylated nucleoside." GO:0120188 "Any process that modulates the frequency, rate or extent of the controlled release of bile acid from a cell or a tissue." MONDO:0013156 "UMLS:C2751052 OMIM:613152 Orphanet:370980" -MONDO:0015793 "UMLS:C1861753 OMIM:117000 ICD10:G71.2 Orphanet:178145" -MONDO:0008917 "Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome." "MESH:C535850 Orphanet:1354 GARD:0002613 SCTID:721009008 OMIM:212135 UMLS:C1859327 ICD10:Q87.2" +MONDO:0015793 "UMLS:C1861753 OMIM:117000 Orphanet:178145 ICD10CM:G71.2" +MONDO:0008917 "Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome." "MESH:C535850 ICD10CM:Q87.2 Orphanet:1354 GARD:0002613 SCTID:721009008 OMIM:212135 UMLS:C1859327" GO:1903552 "Any process that stops, prevents or reduces the frequency, rate or extent of extracellular vesicular exosome assembly." http://identifiers.org/hgnc/30185 MONDO:0001539 "A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters." "UMLS:C0035321 DOID:12514 NCIT:C50732 MESH:D012167 SCTID:232003005" @@ -21548,25 +21536,25 @@ HP:0032943 "A deviation of urine pH from the normal range of 4.5 to 7.8." http://identifiers.org/hgnc/9388 MONDO:0014639 "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22." "Orphanet:101046 OMIM:616436 DOID:0060751 UMLS:C4225327" UBERON:0018257 -MONDO:0017090 "ICD10:Q04.8 Orphanet:268926" -MONDO:0011612 "Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." "Orphanet:407 UMLS:C0751748 ICD9:270.7 OMIM:605899 GARD:0007219 DOID:9268 NCIT:C84937 ICD10:E72.51 SCTID:237939006 ICD10:E72.5" +MONDO:0017090 "Orphanet:268926 ICD10CM:Q04.8" +MONDO:0011612 "Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." "Orphanet:407 UMLS:C0751748 ICD9:270.7 OMIM:605899 GARD:0007219 DOID:9268 NCIT:C84937 SCTID:237939006 ICD10CM:E72.5" UBERON:0000164 http://identifiers.org/hgnc/9122 MONDO:0014355 "OMIM:615821 Orphanet:65282 UMLS:C4014393" MONDO:0003821 "A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm." "NCIT:C39992 UMLS:C1518691 DOID:6232" MONDO:0013157 "UMLS:C3150413 Orphanet:899 OMIM:613153 DOID:0111241 Orphanet:588" GO:1903786 "Any process that modulates the frequency, rate or extent of glutathione biosynthetic process." -MONDO:0014302 "Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some." "DOID:0110813 UMLS:C4284588 OMIM:615681 Orphanet:401785 ICD10:G11.4 SCTID:765045003" +MONDO:0014302 "Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some." "DOID:0110813 ICD10CM:G11.4 UMLS:C4284588 OMIM:615681 Orphanet:401785 SCTID:765045003" GO:0016772 "Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor)." http://identifiers.org/hgnc/18187 MONDO:0019052 "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function." "Orphanet:68367 MESH:D008659 UMLS:C0025517 DOID:655 UMLS:C0025521 NCIT:C34816 MedDRA:10058097 MedDRA:10062018 SCTID:86095007 MESH:D008661" MONDO:0003394 "A disease involving the dental pulp." "UMLS:C0011405 MESH:D003788 DOID:5330 ICD9:522.9 NCIT:C34530 SCTID:57203004" MONDO:0021670 MONDO:0006914 -MONDO:0009955 "RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence." "ICD9:759.89 OMIM:266280 Orphanet:3021 MESH:C535288 SCTID:702413000 ICD10:Q87.1 UMLS:C1849453 GARD:0004637 DOID:0050774" -MONDO:0004757 "Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." "UMLS:C0008681 DOID:9312 NCIT:C34472 ICD10:J32.2 SCTID:73237007 ICD9:473.2" +MONDO:0009955 "RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence." "ICD9:759.89 OMIM:266280 Orphanet:3021 MESH:C535288 SCTID:702413000 UMLS:C1849453 GARD:0004637 DOID:0050774 ICD10CM:Q87.1" +MONDO:0004757 "Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." "ICD10CM:J32.2 UMLS:C0008681 DOID:9312 NCIT:C34472 SCTID:73237007 ICD9:473.2" UBERON:0000161 -MONDO:0009197 "An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy." "MESH:C536980 ICD10:D60.1 ICD9:284.81 OMIM:227050 Orphanet:98871 GARD:0007793 UMLS:C0451688 UMLS:C0238478 SCTID:191255003 NCIT:C131683" +MONDO:0009197 "An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy." "MESH:C536980 ICD9:284.81 OMIM:227050 Orphanet:98871 GARD:0007793 UMLS:C0451688 UMLS:C0238478 SCTID:191255003 NCIT:C131683" http://identifiers.org/hgnc/20347 FOODON:00003402 "Organic food material which has not reached harvestable maturity."@en MONDO:0000773 "OBSOLETE. A allergy involving a Phleum pratense." "DOID:0060498" @@ -21579,19 +21567,19 @@ GO:0019887 "Modulates the activity of a protein kinase, an enzyme which phosphor MONDO:0020477 "Orphanet:99706" UBERON:0000162 MONDO:0021702 "A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" "SCTID:73097000 EFO:1001759 MESH:D000425" -MONDO:0600030 "A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults." "SCTID:450956008 NCIT:C80347 Orphanet:585956 ICD10CM:C91.0 DOID:0080649" +MONDO:0600030 "A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults." "SCTID:450956008 NCIT:C80347 Orphanet:585956 DOID:0080649" http://identifiers.org/hgnc/9386 MONDO:0006845 "Mycobacterium infections of the male reproductive tract (genitalia, male)." "EFO:1001030 SCTID:240379005 MedDRA:10061234 MESH:D014389 UMLS:C0041317" -MONDO:0006526 "A urticaria with a basis in a pathological type I hypersensitivity reaction." "DOID:10612 ICD9:708.0 ICD10:L50.0 Wikipedia:Urticaria#Allergic_urticaria EFO:1000669 SCTID:40178009 UMLS:C0149526" +MONDO:0006526 "A urticaria with a basis in a pathological type I hypersensitivity reaction." "DOID:10612 ICD9:708.0 ICD10CM:L50.0 Wikipedia:Urticaria#Allergic_urticaria EFO:1000669 SCTID:40178009 UMLS:C0149526" UBERON:0001361 MONDO:0013159 "UMLS:C3150415 Orphanet:370968 Orphanet:370959 OMIM:613155" NCBITaxon:34104 "PMID:26438009 PMID:24912824 PMID:25858245 GC_ID:11" MONDO:0011181 "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene." "OMIM:602078 MESH:C566587 Orphanet:45358 UMLS:C1865915" ENVO:01001285 "Dust which is primarily composed of hydrated magnesium silicate (talc) particles." -MONDO:0014358 "UMLS:C4014419 OMIM:615829 EFO:0009015 DOID:0070055 ICD10:Q87.8 Orphanet:412069" +MONDO:0014358 "UMLS:C4014419 OMIM:615829 ICD10CM:Q87.8 EFO:0009015 DOID:0070055 Orphanet:412069" MONDO:0022873 "GARD:0001541" NCBITaxon:31604 "GC_ID:1" -MONDO:0007899 "A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis." "OMIM:151590 MESH:D018459 GARD:0006905 Orphanet:33409 ICD10:L90.0 UMLS:C0023652 SCTID:25674000 NCIT:C26817" +MONDO:0007899 "A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis." "OMIM:151590 MESH:D018459 GARD:0006905 Orphanet:33409 UMLS:C0023652 SCTID:25674000 NCIT:C26817 ICD10CM:L90.0" UBERON:0018254 MONDO:0005257 "Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients." "Wikipedia:New_York_Heart_Association_Functional_Classification EFO:0003149" HP:0004789 "An inability to digest lactose." "MSH:D007787 SNOMEDCT_US:700094005 SNOMEDCT_US:267425008 UMLS:C0022951" @@ -21605,13 +21593,13 @@ CHEBI:35992 "Natural and synthetic antibiotics containing the 4-thia-1-azabicycl http://identifiers.org/hgnc/7820 MONDO:0003192 "A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma." "NCIT:C40016 DOID:4895 UMLS:C1514909" UBERON:0000160 -MONDO:0018781 "Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." "MedDRA:10048786 OMIM:242150 UMLS:C0265336 ICD9:759.89 SCTID:2625009 OMIM:148210 Orphanet:477 ICD10:Q80.8 OMIMPS:148210 UMLS:CN205136 GARD:0003113 OMIM:602540" +MONDO:0018781 "Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." "MedDRA:10048786 OMIM:242150 UMLS:C0265336 ICD9:759.89 SCTID:2625009 OMIM:148210 Orphanet:477 OMIMPS:148210 UMLS:CN205136 GARD:0003113 OMIM:602540 ICD10CM:Q80.8" MONDO:0022872 "GARD:0001543" http://identifiers.org/hgnc/6888 MONDO:0020471 GO:0060055 "Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to a damaged tissue, following an injury." -MONDO:0007661 "A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen." "DOID:11119 ICD10:F95.2 NCIT:C35078 MESH:D005879 EFO:0004895 OMIM:137580 GARD:0007783 SCTID:5158005 Orphanet:856 ICD9:307.23" -MONDO:0012399 "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene." "Orphanet:208444 UMLS:CN203403 OMIM:610031 GARD:10783 Orphanet:268940 Orphanet:300573 ICD10:Q04.3 DOID:0090132" +MONDO:0007661 "A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen." "DOID:11119 NCIT:C35078 MESH:D005879 EFO:0004895 OMIM:137580 GARD:0007783 SCTID:5158005 Orphanet:856 ICD9:307.23" +MONDO:0012399 "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene." "Orphanet:208444 UMLS:CN203403 ICD10CM:Q04.3 OMIM:610031 GARD:10783 Orphanet:268940 Orphanet:300573 DOID:0090132" GO:1905083 "Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial translational elongation." MONDO:0014772 "Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene." "DOID:0080408 OMIM:616788" CHEBI:50994 "A compound formally derived from ammonia by replacing one hydrogen atom by an organyl group." @@ -21624,11 +21612,11 @@ MONDO:0006910 http://identifiers.org/hgnc/16628 ENVO:01001554 "A water surface that is part of a water body." GO:1902116 "Any process that stops, prevents or reduces the frequency, rate or extent of organelle assembly." -MONDO:0018824 "Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate." "UMLS:C0085652 ICD9:686.01 EFO:0006835 SCTID:74578003 ICD10:L88 MedDRA:10037635 MESH:D017511 Orphanet:48104 DOID:8553 GARD:0007510" -MONDO:0017268 "Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities." "ICD10:Q80.2 SCTID:718633009 Orphanet:281127" -MONDO:0020472 "ICD10:Q96.2 Orphanet:99413 UMLS:CN207336 ICD10:Q96.1" +MONDO:0018824 "Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate." "UMLS:C0085652 ICD9:686.01 EFO:0006835 SCTID:74578003 ICD10CM:L88 MedDRA:10037635 MESH:D017511 Orphanet:48104 DOID:8553 GARD:0007510" +MONDO:0017268 "Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities." "SCTID:718633009 Orphanet:281127 ICD10CM:Q80.2" +MONDO:0020472 "Orphanet:99413 ICD10CM:Q96.1 UMLS:CN207336 ICD10CM:Q96.2" MONDO:0002338 "An epilepsy syndrome that is located in an area of the brain other than the temporal lobe." "SCTID:111498005 ICD9:345.80 NCIT:C7760 UMLS:C0270849 DOID:2544" -MONDO:0009353 "Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations." "GARD:0002734 SCTID:41797007 MESH:C537357 ICD10:E72.1 OMIM:236250 Orphanet:395" +MONDO:0009353 "Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations." "GARD:0002734 SCTID:41797007 MESH:C537357 ICD10CM:E72.1 OMIM:236250 Orphanet:395" NCBITaxon:37962 MONDO:0022871 "GARD:0001538" UBERON:0018256 @@ -21641,25 +21629,25 @@ MONDO:0007010 CHEBI:23018 "An EC 4.2.1.* (hydro-lyases) inhibitor that interferes with the action of carbonic anhydrase (EC 4.2.1.1). Such compounds reduce the secretion of H(+) ions by the proximal kidney tubule." MONDO:0006911 MONDO:0044740 "A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course." "NCIT:C7991 Orphanet:500481 EFO:1001967 UMLS:C0279697 OMIM:275355" -MONDO:0010564 "Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." "SCTID:77479002 ICD10:H53.53 DOID:13909 UMLS:C0155016 EFO:0005581 OMIM:303800 OMIM:303900 Orphanet:319698 ICD9:368.52" +MONDO:0010564 "Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population." "SCTID:77479002 ICD10CM:H53.53 DOID:13909 UMLS:C0155016 EFO:0005581 OMIM:303800 OMIM:303900 Orphanet:319698 ICD9:368.52" MONDO:0019248 "A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations." "SCTID:70528007 NCIT:C61267 UMLS:C0026697 Orphanet:79212 DOID:0080488 MESH:D009081" UBERON:0001988 "Portion of semisolid bodily waste discharged through the anus[MW,modified]" -MONDO:0000912 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12." "DOID:0110507 ICD10:H90.3 UMLS:C1833319 OMIM:600792 MESH:C563444" -MONDO:0020473 "SCTID:389262009 Orphanet:99645 ICD9:756.59 UMLS:C1300227 ICD10:Q77.3" +MONDO:0000912 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12." "DOID:0110507 UMLS:C1833319 OMIM:600792 MESH:C563444" +MONDO:0020473 "SCTID:389262009 ICD10CM:Q77.3 Orphanet:99645 ICD9:756.59 UMLS:C1300227" MONDO:0009674 "OMIM:253590 UMLS:C1854646 MESH:C565361" -MONDO:0019146 "Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." "Orphanet:748 ICD10:D84.8 GARD:0012977 UMLS:C3266863 UMLS:CN181681" +MONDO:0019146 "Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." "Orphanet:748 GARD:0012977 UMLS:C3266863 ICD10CM:D84.8 UMLS:CN181681" HP:0012614 "An anomalous finding in the examination of the urine for cells." "SNOMEDCT_US:310439007 UMLS:C0587955" UBERON:0018255 CHEBI:64708 "An organic molecular entity containing a single carbon atom (C1)." GO:0046849 "The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis." -MONDO:0001700 "Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs." "OMIM:261100 ICD10:D53.1 OMIM:613839 UMLS:C0002888 HP:0001889 SCTID:53165003 NCIT:C34382 ICD9:281.3 DOID:13382" +MONDO:0001700 "Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs." "OMIM:261100 OMIM:613839 UMLS:C0002888 HP:0001889 SCTID:53165003 NCIT:C34382 ICD9:281.3 DOID:13382" MONDO:0004515 UBERON:4000115 -MONDO:0019786 "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14." "Orphanet:94066 ICD10:Q87.8" +MONDO:0019786 "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14." "Orphanet:94066 ICD10CM:Q87.8" MONDO:0044266 "OBSOLETE. Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage." "HGNC:12813" http://identifiers.org/hgnc/9382 HP:0000646 "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways." "MSH:D000550 UMLS:C0002418 SNOMEDCT_US:387742006" -MONDO:0024264 "A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13." "Orphanet:95712 Orphanet:95713 Orphanet:95720 OMIM:218700 DOID:0070124 Orphanet:95719 ICD10:E03.1" +MONDO:0024264 "A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13." "Orphanet:95712 Orphanet:95713 Orphanet:95720 OMIM:218700 DOID:0070124 Orphanet:95719" GO:0033602 "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of dopamine." MONDO:0030008 "OMIM:618839" MONDO:0032669 "OMIM:618312" @@ -21667,11 +21655,11 @@ GO:0150073 "Any process that modulates the frequency, rate or extent of protein- http://identifiers.org/hgnc/18865 NCBITaxon:29461 "GC_ID:11" MONDO:0008883 "UMLS:C1859393 OMIM:211369 MESH:C565894" -MONDO:0007379 "Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." "GARD:0009688 OMIMPS:122100 MESH:D053559 DOID:0060451 Orphanet:98954 NCIT:C84795 SCTID:1674008 ICD10:H18.52 ICD10:H18.5 UMLS:C0339277 ICD9:371.51" +MONDO:0007379 "Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." "OMIM:122100 GARD:0009688 OMIMPS:122100 MESH:D053559 ICD10CM:H18.5 DOID:0060451 Orphanet:98954 NCIT:C84795 SCTID:1674008 UMLS:C0339277 ICD9:371.51" UBERON:0008874 CL:0000667 "An extracellular matrix secreting cell that secretes collagen." UBERON:0006213 -MONDO:0005757 "A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes." "ICD10:B47.9 ICD9:117.4 EFO:0007265 ICD10:B47 DOID:13078 SCTID:410038006" +MONDO:0005757 "A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes." "ICD9:117.4 EFO:0007265 DOID:13078 SCTID:410038006" UBERON:0005017 MONDO:0100107 "Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death." MONDO:0005024 @@ -21681,31 +21669,31 @@ MONDO:0030009 "OMIM:618840" CL:0019019 "A smooth muscle cell that is part of the tracheobronchial tree." MONDO:0032668 "OMIM:618310" MONDO:0015864 "A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum." "Orphanet:180234 DOID:3306 ICDO:9085/3 NCIT:C9010 NCIT:C4290 UMLS:C0334524" -MONDO:0012853 "A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated." "OMIM:612289 Orphanet:2095 GARD:0004497 MESH:C537290 OMIM:233500 ICD9:759.89 ICD10:Q87.0 SCTID:205800003 GARD:0000066 UMLS:C2931653 ICD10:E34.8" +MONDO:0012853 "A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated." "OMIM:612289 Orphanet:2095 GARD:0004497 MESH:C537290 OMIM:233500 ICD10CM:E34.8 ICD10CM:Q87.0 ICD9:759.89 SCTID:205800003 GARD:0000066 UMLS:C2931653" UBERON:0004919 -MONDO:0012742 "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene." "DOID:0110220 GARD:0010361 Orphanet:130 ICD10:I49.8 OMIM:611875 MESH:C567509 UMLS:C2678478" +MONDO:0012742 "Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene." "DOID:0110220 GARD:0010361 Orphanet:130 OMIM:611875 MESH:C567509 UMLS:C2678478" MONDO:0042490 "MESH:C565969 OMIM:202700 UMLS:C1859966 Orphanet:486 DOID:0080625" MONDO:0032667 "OMIM:618309" GO:1905125 "Any process that activates or increases the frequency, rate or extent of glucosylceramidase activity." GO:1990611 "Modulation of the frequency, rate or extent of cytoplasmic translational initiation as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation)." UBERON:0012344 GO:0099565 "The part of synaptic transmission occurring in the post-synapse: a signal transduction pathway consisting of neurotransmitter receptor activation and its effects on postsynaptic membrane potential and the ionic composition of the postsynaptic cytosol." -MONDO:0003767 "A disease involving the mitral valve." "ICD9:394.9 SCTID:83898004 ICD10:I05.1 UMLS:C0264765 UMLS:C0026265 ICD9:394.1 NCIT:C78446 UMLS:C2939153 ICD10:I05 ICD9:394 DOID:61 ICD9:424.0 ICD10:I05.9 SCTID:11851006" +MONDO:0003767 "A disease involving the mitral valve." "ICD9:424.0 UMLS:C2939153 ICD9:394.1 ICD9:394.9 ICD9:394 UMLS:C0264765 NCIT:C78446 DOID:61 UMLS:C0026265 SCTID:83898004 SCTID:11851006" MONDO:0016440 "A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules." "UMLS:CN226932 NCIT:C4245 Orphanet:228243 ICDO:8820/0 UMLS:C0334460" -MONDO:0015994 "UMLS:CN200619 GARD:0003854 ICD10:G71.2 Orphanet:1877" -MONDO:0007422 "ICD10:Q82.8 GARD:0003092 ICD9:757.39 OMIM:124500 Orphanet:494 SCTID:24559001 MESH:C536457 DOID:0111339" +MONDO:0015994 "UMLS:CN200619 ICD10CM:G71.2 GARD:0003854 Orphanet:1877" +MONDO:0007422 "ICD10CM:Q82.8 GARD:0003092 ICD9:757.39 OMIM:124500 Orphanet:494 SCTID:24559001 MESH:C536457 DOID:0111339" MONDO:0008400 "Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts." "OMIM:181010 MESH:D012465" -MONDO:0011935 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene." "DOID:0110406 ICD10:H35.5 OMIM:607921 GARD:0010401 UMLS:C1842816" -MONDO:0001628 "A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds." "UMLS:C0157701 ICD9:681.9 UMLS:C4082762 UMLS:C0157690 NCIT:C112214 MESH:D014009 UMLS:C0157698 ICD10:B35.1 DOID:13074 UMLS:C0157691 UMLS:C0040261 UMLS:C0157696" -MONDO:0011304 "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene." "MESH:C566394 UMLS:C1864041 OMIM:603284 DOID:0060670 Orphanet:221061 ICD10:Q28.3" +MONDO:0011935 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene." "DOID:0110406 OMIM:607921 GARD:0010401 UMLS:C1842816" +MONDO:0001628 "A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds." "UMLS:C0157701 ICD9:681.9 UMLS:C4082762 UMLS:C0157690 NCIT:C112214 MESH:D014009 ICD10CM:B35.1 UMLS:C0157698 DOID:13074 UMLS:C0157691 UMLS:C0040261 UMLS:C0157696" +MONDO:0011304 "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene." "MESH:C566394 UMLS:C1864041 OMIM:603284 DOID:0060670 Orphanet:221061" MONDO:0030006 "OMIM:618835 Orphanet:570491" http://identifiers.org/hgnc/2340 http://identifiers.org/hgnc/18601 MONDO:0021416 "A polyp that involves the gall bladder." "NCIT:C3909 UMLS:C0262493 SCTID:197433003" -MONDO:0004929 "ICD9:376.31 SCTID:89907009 UMLS:C0155267 ICD10:H05.24 DOID:9945" -MONDO:0015436 "Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present." "ICD9:758.89 MESH:C580424 GARD:0001334 NCIT:C169001 ICD10:Q93.2 Orphanet:1444 SCTID:23686004" -MONDO:0009511 "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported." "MESH:C537874 ICD10:Q74.8 Orphanet:284139 OMIM:245600 DOID:0080575" -MONDO:0008512 "Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes." "UMLS:C4275033 Orphanet:1527 GARD:0005081 ICD10:Q70.2 OMIM:609815 ICD10:Q70.0 Orphanet:93402 OMIM:185900 UMLS:C1861380 SCTID:715723008 ICD10:Q70.1 ICD10:Q70.3" +MONDO:0004929 "ICD9:376.31 SCTID:89907009 UMLS:C0155267 DOID:9945" +MONDO:0015436 "Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present." "ICD9:758.89 ICD10CM:Q93.2 MESH:C580424 GARD:0001334 NCIT:C169001 Orphanet:1444 SCTID:23686004" +MONDO:0009511 "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported." "MESH:C537874 Orphanet:284139 OMIM:245600 ICD10CM:Q74.8 DOID:0080575" +MONDO:0008512 "Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes." "UMLS:C4275033 Orphanet:1527 GARD:0005081 OMIM:609815 Orphanet:93402 OMIM:185900 UMLS:C1861380 SCTID:715723008" UBERON:0006211 MONDO:0030005 "OMIM:618832" http://identifiers.org/hgnc/1142 @@ -21720,38 +21708,38 @@ MONDO:0030007 "OMIM:618838" MONDO:0000238 "A mild form of bubonic plague characterized by symptoms such as mild fever and lymphadenitis." "MEDGEN:546803 ICD9:020.8 UMLS:C0275757 SCTID:186287003" http://identifiers.org/hgnc/16205 GO:0098805 -MONDO:0012110 "Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit." "MESH:C563867 GARD:0010627 ICD10:E34.3 Orphanet:73272 UMLS:C4518327 UMLS:C1837475 SCTID:724385009 OMIM:608747" -MONDO:0001827 "A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts." "SCTID:35586003 UMLS:C0031898 UMLS:C0040249 ICD9:111.2 ICD10:B36.2 SCTID:402135006 DOID:13902 MESH:D010854" +MONDO:0012110 "Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit." "MESH:C563867 GARD:0010627 Orphanet:73272 ICD10CM:E34.3 UMLS:C4518327 UMLS:C1837475 SCTID:724385009 OMIM:608747" +MONDO:0001827 "A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts." "SCTID:35586003 UMLS:C0031898 UMLS:C0040249 ICD10CM:B36.2 ICD9:111.2 SCTID:402135006 DOID:13902 MESH:D010854" MONDO:0021969 "A syndrome characterized by hypochromic anemia with leukopenia, splenomegaly, late onset hepatic cirrhosis and death from gastric hemorrhages." "GARD:0005888 MESH:C537903" UBERON:0006210 MONDO:0022819 "GARD:0006150" MONDO:0015211 "A intestinal malformation that is not part of a larger syndrome." "Orphanet:108967" CHEBI:15841 "A peptide containing ten or more amino acid residues." GO:0097237 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus." -MONDO:0006733 "A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye." "ICD9:375.15 UMLS:C0022575 MedDRA:100233350 ICD10:H04.12 NCIT:C34553 EFO:1001001 DOID:12895 MESH:D007638 MESH:D015352 UMLS:C0013238 SCTID:302896008 SCTID:46152009 DOID:10140 MedDRA:10013777 EFO:1000906" +MONDO:0006733 "A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye." "ICD9:375.15 UMLS:C0022575 MedDRA:100233350 NCIT:C34553 EFO:1001001 DOID:12895 MESH:D007638 MESH:D015352 UMLS:C0013238 SCTID:302896008 SCTID:46152009 DOID:10140 MedDRA:10013777 EFO:1000906" MONDO:0015992 -MONDO:0014216 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene." "OMIM:615505 DOID:0110607 UMLS:C3809706 ICD10:Q34.8" +MONDO:0014216 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene." "OMIM:615505 DOID:0110607 UMLS:C3809706" MONDO:0007682 "UMLS:C1841836 OMIM:138920 MESH:C564211" MONDO:0037746 "A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma." "NCIT:C40276 UMLS:C1512974" MONDO:0008590 "Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene." "DOID:0111428 OMIM:190300 GARD:0005244 UMLS:C1860861 MESH:C536545" -MONDO:0009592 "Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." "MESH:C537350 UMLS:C1855243 GARD:0003519 OMIM:250215 Orphanet:1240 ICD10:Q78.5" +MONDO:0009592 "Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases." "MESH:C537350 UMLS:C1855243 GARD:0003519 ICD10CM:Q78.5 OMIM:250215 Orphanet:1240" MONDO:0033862 "Orphanet:522037" UBERON:0004914 -MONDO:0008551 "A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis." "SCTID:723556008 Orphanet:3317 ICD10:Q77.2 GARD:0005184 MESH:C536517 UMLS:C1861197 OMIM:187760 OMIM:187770" +MONDO:0008551 "A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis." "SCTID:723556008 Orphanet:3317 GARD:0005184 MESH:C536517 UMLS:C1861197 OMIM:187760 ICD10CM:Q77.2 OMIM:187770" UBERON:0005012 GO:0051176 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur." http://identifiers.org/hgnc/18603 -MONDO:0015046 "Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases." "ICD9:273.2 GARD:0010346 SCTID:109984001 DOID:0060127 Orphanet:100026 ICD10:C88.2 NCIT:C3083" +MONDO:0015046 "Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases." "ICD9:273.2 GARD:0010346 SCTID:109984001 ICD10CM:C88.2 DOID:0060127 Orphanet:100026 NCIT:C3083" MONDO:0008887 "DOID:0080526 Orphanet:60033 MESH:C567618 OMIM:211400 UMLS:C2749757" MONDO:0005684 "A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)" "UMLS:C0032372 DOID:9786 EFO:0007186 ICD9:045.0 MESH:D011052" -MONDO:0016090 "ICD10:E75.2 SCTID:41142009 Orphanet:206443 UMLS:CN200855" +MONDO:0016090 "SCTID:41142009 Orphanet:206443 ICD10CM:E75.2 UMLS:CN200855" MONDO:0032664 "OMIM:618300" UBERON:0008878 UBERON:0006217 -MONDO:0011031 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene." "ICD10:H90.3 DOID:0110542 MESH:C563354 UMLS:C1832476 OMIM:601316" +MONDO:0011031 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene." "DOID:0110542 MESH:C563354 UMLS:C1832476 OMIM:601316" CL:0002352 "A hematopoietic stem cell that exists during embryogenesis." GO:0002020 "Binding to a protease or a peptidase." -MONDO:0004351 "A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters." "ICD9:200.50 DOID:775 Orphanet:279904 ICD10:C85,7 MESH:D064090 SCTID:420788006 NCIT:C9184" +MONDO:0004351 "A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters." "ICD9:200.50 DOID:775 Orphanet:279904 MESH:D064090 SCTID:420788006 NCIT:C9184" UBERON:0035398 UBERON:0035132 UBERON:0007414 @@ -21766,10 +21754,10 @@ MONDO:0030004 "OMIM:618830" CHEBI:51270 "Compounds containing a tetracene skeleton." MONDO:0004921 MONDO:0000256 "A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system." "SCTID:399314004 ICD9:117.9 UMLS:C0553576 DOID:0050136" -MONDO:0018163 "An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24." "OMIM:219200 OMIM:278250 GARD:0001638 ICD10:Q82.8 Orphanet:357058 DOID:0070134" +MONDO:0018163 "An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24." "OMIM:219200 OMIM:278250 GARD:0001638 ICD10CM:Q82.8 Orphanet:357058 DOID:0070134" UBERON:0003716 HP:0031466 "A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning." -MONDO:0024317 "Chronic form of disorder involving pain." "UMLS:C1298685 SCTID:373621006 ICD9:338.4 ICD10:G89.4" +MONDO:0024317 "Chronic form of disorder involving pain." "UMLS:C1298685 SCTID:373621006 ICD9:338.4 ICD10CM:G89.4" MONDO:0007684 MONDO:0033864 "OMIM:618218 Orphanet:522077" UBERON:0035131 @@ -21777,13 +21765,13 @@ UBERON:0005014 MONDO:0044014 "A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum" "SCTID:52772002 UMLS:C0271815 NCIT:C114389 MESH:D050032" UBERON:0004916 MONDO:0024249 "A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica)." "NCIT:C85013 GARD:0010265 SCTID:200983001 MESH:D017514" -MONDO:0002328 "A hemangioma arising from the brain and meninges." "ICD9:228.02 UMLS:C0154050 NCIT:C3633 ICD10:D18.02 DOID:2517 SCTID:93468003" +MONDO:0002328 "A hemangioma arising from the brain and meninges." "ICD10CM:D18.02 ICD9:228.02 UMLS:C0154050 NCIT:C3633 DOID:2517 SCTID:93468003" GO:0030851 "The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils." MONDO:0032666 "OMIM:618307" http://identifiers.org/hgnc/25712 http://identifiers.org/hgnc/29673 http://identifiers.org/hgnc/28472 -MONDO:0001329 "ICD9:367.53 DOID:11637 UMLS:C0152196 ICD10:H52.53 SCTID:30069002" +MONDO:0001329 "ICD9:367.53 DOID:11637 UMLS:C0152196 SCTID:30069002" UBERON:0008876 UBERON:0006215 HP:0000243 "Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput." "UMLS:C4280666 MSH:D003398 UMLS:C4280665 SNOMEDCT_US:28740008 UMLS:C0265535" @@ -21796,14 +21784,14 @@ http://identifiers.org/hgnc/2343 HP:0012323 "Myoclonus that occurs during the initial phases of sleep." "MSH:D009207 SNOMEDCT_US:34101000119105 UMLS:C0751352" UBERON:0035130 MONDO:0002966 "A prolymphocytic leukemia that involves the spleen." "UMLS:C1336066 DOID:4334 NCIT:C7297" -MONDO:0001327 "ICD9:618.83 ICD10:N81.84 DOID:11629" +MONDO:0001327 "ICD9:618.83 ICD10CM:N81.84 DOID:11629" UBERON:0005015 MONDO:0003145 "A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region." "NCIT:C6968 SCTID:699318007 UMLS:C1336538 ICD9:209.30 DOID:4791 GARD:0007366" MONDO:0005552 "A disorder that is caused by pathologic changes in the ocular vasculature." "EFO:0005753 NCIT:C35664" CL:2000095 "Any hematopoietic stem cell that is part of a umbilical cord blood." -MONDO:0018995 "Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." "UMLS:CN043578 DOID:0050541 ICD10:G60.0 SCTID:715795005 GARD:0012440 Orphanet:64749" +MONDO:0018995 "Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases." "UMLS:CN043578 DOID:0050541 SCTID:715795005 ICD10CM:G60.0 GARD:0012440 Orphanet:64749" UBERON:0004917 -MONDO:0004923 "ICD10:H04.4 SCTID:267653001 UMLS:C0155239 ICD9:375.4 DOID:9935" +MONDO:0004923 "SCTID:267653001 UMLS:C0155239 ICD9:375.4 DOID:9935" MONDO:0001969 "A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution." "DOID:14449 MESH:D006060 UMLS:C0018055 GARD:0002539 SCTID:83579008" MONDO:0002526 "DOID:3148 UMLS:C0474966" GO:0051148 "Any process that stops, prevents, or reduces the frequency, rate or extent of muscle cell differentiation." @@ -21817,7 +21805,7 @@ MONDO:0030268 "OMIM:619317" MONDO:0006964 "Overproduction of parathyroid hormone in response to influence external to the parathyroid glands." "HP:0000867 MedDRA:10020708 MESH:D006962 EFO:1001173 UMLS:C0020503 DOID:12466 SCTID:91478007 NCIT:C113335" UBERON:0006214 GO:0001677 "Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator)." -MONDO:0018976 "The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates." "GARD:0000246 UMLS:C2931271 ICD10:Q87.8 MESH:C536633 SCTID:718095000 Orphanet:63862" +MONDO:0018976 "The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates." "GARD:0000246 UMLS:C2931271 ICD10CM:Q87.8 MESH:C536633 SCTID:718095000 Orphanet:63862" MONDO:0018231 "Orphanet:364531" CL:0007001 "Cell that has the potential to form a skeletal cell type (e.g. cells in periosteum, cells in marrow) and produce extracellular matrix (often mineralized) and skeletal tissue (often mineralized)." CL:0000008 "Cell that is part of the migratory cranial neural crest population. Migratory cranial neural crest cells develop from premigratory cranial neural crest cells and have undergone epithelial to mesenchymal transition and delamination." @@ -21829,20 +21817,20 @@ UBERON:0003978 CL:1000682 "KUPO:0001092" UBERON:0002514 MONDO:0017033 "UMLS:CN202345 Orphanet:264935" -MONDO:0016706 "A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates." "ICD10:C71.9 GARD:0010636 UMLS:C1322252 ICDO:9444/1 DOID:3773 NCIT:C5592 DOID:3774 Orphanet:251674 ONCOTREE:CHGL SCTID:715900001" +MONDO:0016706 "A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates." "GARD:0010636 UMLS:C1322252 ICD10CM:C71.9 ICDO:9444/1 DOID:3773 NCIT:C5592 DOID:3774 Orphanet:251674 ONCOTREE:CHGL SCTID:715900001" MONDO:0019694 "Orphanet:93434" MONDO:0032660 "OMIM:618291 DOID:0070350" MONDO:0017299 "Orphanet:284460" -MONDO:0006564 "An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site." "ICD10:L24 ICD10:L24.9 MESH:D017453 DOID:2772 EFO:1000718 NCIT:C27151 ICD9:692.9 UMLS:C0162823 SCTID:110979008" -MONDO:0019465 "Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported." "ONCOTREE:NMZL Orphanet:86867 MedDRA:10029460 ICD10:C83.0 SCTID:277623009 NCIT:C8863 DOID:0080211 UMLS:C0855139" +MONDO:0006564 "An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site." "MESH:D017453 DOID:2772 EFO:1000718 NCIT:C27151 ICD9:692.9 UMLS:C0162823 SCTID:110979008" +MONDO:0019465 "Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported." "ONCOTREE:NMZL Orphanet:86867 MedDRA:10029460 ICD10CM:C83.0 SCTID:277623009 NCIT:C8863 DOID:0080211 UMLS:C0855139" UBERON:0002515 -MONDO:0020419 "SCTID:54682008 HP:0004971 ICD10:Q25.7 Orphanet:99083" +MONDO:0020419 "SCTID:54682008 HP:0004971 ICD10CM:Q25.7 Orphanet:99083" http://identifiers.org/hgnc/23573 MONDO:0008625 "OMIM:191530 UMLS:C1860587 MESH:C566013" -MONDO:0015813 "Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder." "Orphanet:178536 UMLS:C1275321 ICD10:C83.0 NCIT:C7230 SCTID:404140004" -MONDO:0009822 "UMLS:C1850105 MESH:C564912 Orphanet:2793 GARD:0004170 OMIM:259780 SCTID:441944007 ICD10:Q87.5 ICD9:759.89" +MONDO:0015813 "Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder." "Orphanet:178536 UMLS:C1275321 NCIT:C7230 SCTID:404140004 ICD10CM:C83.0" +MONDO:0009822 "UMLS:C1850105 MESH:C564912 Orphanet:2793 GARD:0004170 OMIM:259780 SCTID:441944007 ICD9:759.89 ICD10CM:Q87.5" http://identifiers.org/hgnc/9647 -MONDO:0018498 "Orphanet:423693 ICD10:Q20.1" +MONDO:0018498 "ICD10CM:Q20.1 Orphanet:423693" MONDO:0024376 "SCTID:194437008" MONDO:0036591 "A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)" "NCIT:C2858" MONDO:0018232 "Orphanet:364536" @@ -21852,11 +21840,11 @@ UBERON:0003711 MONDO:0016934 "Orphanet:262672 SCTID:726355001" UBERON:0002513 UBERON:0005275 -MONDO:0019693 "Orphanet:93430 ICD10:Q78.5" +MONDO:0019693 "Orphanet:93430 ICD10CM:Q78.5" MONDO:0007429 "UMLS:C1852267 Orphanet:1215 UMLS:C3276549 OMIM:125250 GARD:0009897" -MONDO:0016393 "This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." "ICD10:Q87.8 UMLS:CN201299 Orphanet:2250 OMIM:603457" +MONDO:0016393 "This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." "UMLS:CN201299 Orphanet:2250 ICD10CM:Q87.8 OMIM:603457" MONDO:0017034 "UMLS:CN202346 Orphanet:264944" -MONDO:0004169 "A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses." "ICD10:N94.3 MESH:D011293 UMLS:C0376356 ICD9:625.4 DOID:727" +MONDO:0004169 "A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses." "MESH:D011293 UMLS:C0376356 ICD9:625.4 DOID:727" UBERON:0004910 MONDO:0030266 "OMIM:619313" MONDO:0002982 "A small round cell tumor with neural differentiation arising from the soft tissues." "UMLS:C1112437 NCIT:C27471 DOID:4389" @@ -21864,7 +21852,7 @@ GO:0036374 "Catalysis of the reaction: glutathione + H2O = L-cysteinylglycine + MONDO:0021066 "A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003" "SCTID:126879004 ICD9:239.5 NCIT:C3431 ONCOTREE:BLADDER" MONDO:0023178 "GARD:0002366" MONDO:0016933 "Orphanet:262658" -MONDO:0005578 "An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain." "DOID:848 EFO:0005856 MESH:D001168 SCTID:3723001 Wikipedia:Arthritis UMLS:C0003864 ICD10:M19.90 NCIT:C2883" +MONDO:0005578 "An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain." "ICD10CM:M05-M14 DOID:848 EFO:0005856 MESH:D001168 SCTID:3723001 Wikipedia:Arthritis UMLS:C0003864 NCIT:C2883" MONDO:0004015 "A mature or immature teratoma that arises in the pineal region." "NCIT:C6753 UMLS:C1335419 DOID:6856" UBERON:0001319 MONDO:0013309 "DOID:0060414 OMIM:613564 UMLS:C3150804" @@ -21888,7 +21876,7 @@ GO:0046916 "Any process involved in the maintenance of an internal steady state CL:0002605 "An astrocyte of the cerebral cortex." HP:0001638 "A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality." "SNOMEDCT_US:85898001 Fyler:1840 UMLS:C0878544 SNOMEDCT_US:57809008 MSH:D009202" UBERON:0003715 -MONDO:0010211 "An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair." "OMIM:278720 GARD:0005626 MESH:C567886 NCIT:C114770 ICD10:Q82.1 SCTID:25784009 Orphanet:910 DOID:0110844 Orphanet:276255 UMLS:C2752147" +MONDO:0010211 "An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair." "OMIM:278720 GARD:0005626 MESH:C567886 NCIT:C114770 ICD10CM:Q82.1 SCTID:25784009 Orphanet:910 DOID:0110844 Orphanet:276255 UMLS:C2752147" GO:0003104 "Any process that activates or increases the frequency, rate or extent of glomerular filtration. Glomerular filtration is the processs whereby blood is filtered by the glomerulus into the renal tubule." MONDO:0018496 "Orphanet:423655" MONDO:0025100 "Inflammation of the udder in cows." "EFO:1001765 UMLS:C0024895 MESH:D008414" @@ -21913,19 +21901,19 @@ http://identifiers.org/hgnc/30664 MONDO:0017032 "UMLS:CN202344 Orphanet:264930" MONDO:0032661 "OMIM:618292" MONDO:0023176 "MESH:C537268 GARD:0002361" -MONDO:0008888 "ICD9:748.3 Orphanet:411501 SCTID:54203008 OMIM:211450 ICD10:Q33.4 GARD:0007791" -MONDO:0019695 "Orphanet:93436 ICD10:Q74.8" +MONDO:0008888 "ICD9:748.3 Orphanet:411501 SCTID:54203008 ICD10CM:Q33.4 OMIM:211450 GARD:0007791" +MONDO:0019695 "Orphanet:93436 ICD10CM:Q74.8" GO:0048754 "The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder." UBERON:0004912 UBERON:0000119 -MONDO:0011888 "An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria." "OMIM:607676 MESH:C563662 GARD:0010311 Orphanet:70592 UMLS:C1835828 UMLS:C1843256 ICD10:D84.8 MESH:C564352" +MONDO:0011888 "An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria." "OMIM:607676 MESH:C563662 GARD:0010311 ICD10CM:D84.8 Orphanet:70592 UMLS:C1835828 UMLS:C1843256 MESH:C564352" UBERON:0003714 GO:0033578 "The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus." MONDO:0018230 "Orphanet:364526" -MONDO:0018223 "Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype." "NCIT:C80374 Orphanet:364033 ICD10CM:D47.9 DOID:0070324 SCTID:721311006 ICDO:9724/3 ICD10:D47.9 UMLS:CN204753" +MONDO:0018223 "Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype." "NCIT:C80374 Orphanet:364033 ICD10CM:D47.9 DOID:0070324 SCTID:721311006 ICDO:9724/3 UMLS:CN204753" NCBITaxon:186626 "GC_ID:1" MONDO:0016931 "Orphanet:262648 SCTID:726349006" -MONDO:0007872 "Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations." "OMIM:149730 ICD10:Q87.8 UMLS:C0265269 ICD9:759.89 Orphanet:2363 GARD:0006848 MESH:C538132 DOID:0050331 SCTID:23817003" +MONDO:0007872 "Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations." "OMIM:149730 UMLS:C0265269 ICD9:759.89 Orphanet:2363 ICD10CM:Q87.8 GARD:0006848 MESH:C538132 DOID:0050331 SCTID:23817003" UBERON:0000115 MONDO:0002751 "A carcinoma that arises from glandular epithelial cells of the urinary bladder" "NCIT:C4032 EFO:1000125 UMLS:C0279682 DOID:3711 SCTID:255110003 ONCOTREE:BLAD" http://identifiers.org/hgnc/12509 @@ -21936,7 +21924,7 @@ MONDO:0015620 "A urogenital tract malformation that is part of a larger syndrome UBERON:0005270 GO:0006144 "The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine." UBERON:0008870 -MONDO:0008712 "Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988." "GARD:0003075 MESH:C536892 SCTID:720418008 ICD10:Q87.0 OMIM:201050 UMLS:C1860145 Orphanet:949" +MONDO:0008712 "Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988." "GARD:0003075 MESH:C536892 SCTID:720418008 OMIM:201050 UMLS:C1860145 Orphanet:949 ICD10CM:Q87.0" GO:0035931 "The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism." MONDO:0008629 "OMIM:191700 DOID:0080654" MONDO:0022818 "GARD:0001472" @@ -21948,26 +21936,26 @@ NCBITaxon:186625 "GC_ID:1" GO:0035306 "Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a molecule." MONDO:0044281 "OBSOLETE. Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010})." "OMIM:615082" MONDO:0007425 "MESH:C565120 UMLS:C1852280 OMIM:124950" -MONDO:0006939 "An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion." "SCTID:45816000 UMLS:C0034186 DOID:11400 NCIT:C34965 ICD9:590.80 MedDRA:10037596 ICD10:N10-N16 ICD10:N12 EFO:1001141 GARD:0012020 ICD10:N16 MESH:D011704" +MONDO:0006939 "An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion." "SCTID:45816000 UMLS:C0034186 DOID:11400 NCIT:C34965 ICD9:590.80 MedDRA:10037596 EFO:1001141 GARD:0012020 MESH:D011704" MONDO:0016930 "Orphanet:262643" -MONDO:0001269 "A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare." "MESH:D015422 ICD9:379.19 ICD10:H15.9 SCTID:33064008 UMLS:C0036412 ICD10:H15 NCIT:C79717 DOID:11343" +MONDO:0001269 "A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare." "MESH:D015422 ICD9:379.19 SCTID:33064008 UMLS:C0036412 ICD10CM:H15-H22 NCIT:C79717 DOID:11343" HP:0008035 "Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery)." "UMLS:C4021559" -MONDO:0009549 "Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy." "Orphanet:827 UMLS:C1855465 Orphanet:364055 OMIM:248200 UMLS:C0271093 ICD10:H35.5 SCTID:716663009" +MONDO:0009549 "Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy." "Orphanet:827 UMLS:C1855465 ICD10CM:H35.5 Orphanet:364055 OMIM:248200 UMLS:C0271093 SCTID:716663009" HP:0003401 "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." "UMLS:C0030554 SNOMEDCT_US:91019004 MSH:D010292" PATO:0000051 "A quality of a single physical entity inhering in the bearer by virtue of the bearer's size or shape or structure." HP:0007370 "Absence or underdevelopment of the corpus callosum." "UMLS:C1861866" MONDO:0009826 "OMIM:260100" MONDO:0006422 "A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." "UMLS:C1710113 EFO:1000539 NCIT:C43553" MONDO:0012947 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene." "MESH:C567240 UMLS:C2675487 DOID:0070034 Orphanet:178469 OMIM:612581" -MONDO:0020532 "Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia." "Orphanet:99903 ICD10:A25.0 MESH:D011906 SCTID:19044004 DOID:12096 ICD9:026.0" +MONDO:0020532 "Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia." "Orphanet:99903 MESH:D011906 SCTID:19044004 DOID:12096 ICD9:026.0" MONDO:0017030 "Orphanet:264757 UMLS:CN202341" NCBITaxon:7742 "GC_ID:1" CL:0000150 "A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules." "CALOHA:TS-2085 FMA:86494" MONDO:0006490 "A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease." "SCTID:105121000119102 UMLS:C0238518 EFO:1000620 NCIT:C7736 ONCOTREE:VSC" MONDO:0002176 "OBSOLETE. A malignant neoplasm involving the connective tissue" "MESH:D009372 SCTID:126598008 DOID:201 UMLS:C0027656" http://identifiers.org/hgnc/16466 -MONDO:0019934 "The chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc." "Orphanet:96321 SCTID:72991005 MESH:D011123 ICD10:Q92.7" -MONDO:0021018 "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3." "ICD10:G71.0 UMLS:C3148763 DOID:0110305 GARD:0012528 OMIM:603511 MESH:C566370 Orphanet:34516 UMLS:C3501858" +MONDO:0019934 "The chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc." "Orphanet:96321 SCTID:72991005 MESH:D011123" +MONDO:0021018 "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3." "UMLS:C3148763 DOID:0110305 GARD:0012528 OMIM:603511 MESH:C566370 Orphanet:34516 ICD10CM:G71.0 UMLS:C3501858" CHEBI:33837 "Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion." UBERON:0000117 UBERON:0001577 @@ -21976,21 +21964,21 @@ NCBITaxon:1647 "PMID:7537073 GC_ID:11" UBERON:0001311 MONDO:0044629 "Orphanet:488586" HP:0012863 "A structural anomaly of a male reproductive cell." "UMLS:C4022703" -MONDO:0005338 "Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage." "ICD9:365.1 OMIM:611276 OMIM:606689 MESH:D005902 SCTID:46168003 OMIM:606657 OMIM:610535 OMIM:601682 ICD9:365.13 OMIM:137750 ICD10:H40.13 NCIT:C34641 OMIM:611274 OMIM:609887 UMLS:C0017612 ICD9:365.10 ICD10:H40.1 SCTID:84494001 OMIM:177700 OMIM:608695 OMIM:608696 OMIM:602429 OMIM:603383 DOID:1067 ICD10:H40.10 EFO:0004190 OMIM:137760 OMIM:613100 OMIM:609745" +MONDO:0005338 "Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage." "ICD10CM:H40.1 ICD9:365.1 OMIM:611276 OMIM:606689 MESH:D005902 SCTID:46168003 OMIM:606657 OMIM:610535 OMIM:601682 ICD9:365.13 OMIM:137750 NCIT:C34641 OMIM:611274 OMIM:609887 UMLS:C0017612 ICD9:365.10 SCTID:84494001 OMIM:177700 OMIM:608695 OMIM:608696 OMIM:602429 OMIM:603383 DOID:1067 EFO:0004190 OMIM:137760 OMIM:613100 OMIM:609745" http://identifiers.org/hgnc/14906 -MONDO:0004795 "Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain." "SCTID:3135009 MESH:D010032 ICD10:H60 DOID:9463 ICD9:380.10 ICD9:380.1 NCIT:C3299" -MONDO:0010090 "Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome." "SCTID:733606001 Orphanet:3210 GARD:0000127 OMIM:272350 ICD10:Q82.0 MESH:C538142 UMLS:C1802405" +MONDO:0004795 "Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain." "SCTID:3135009 MESH:D010032 ICD10CM:H60 DOID:9463 ICD9:380.10 ICD9:380.1 NCIT:C3299" +MONDO:0010090 "Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome." "SCTID:733606001 Orphanet:3210 ICD10CM:Q82.0 GARD:0000127 OMIM:272350 MESH:C538142 UMLS:C1802405" MONDO:0002480 "A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." "DOID:3001 EFO:0009118 NCIT:C7113 UMLS:C0474809" -MONDO:0021450 "A benign neoplasm that involves the heart." "NCIT:C3605 ICD9:212.7 ICD10:D15.1 SCTID:92132009 UMLS:C0153957" +MONDO:0021450 "A benign neoplasm that involves the heart." "NCIT:C3605 ICD9:212.7 SCTID:92132009 UMLS:C0153957 ICD10CM:D15.1" MONDO:0021008 "An antiphospholipid syndrome that occurs alongside another autoimmune disorder." "SCTID:239895006 UMLS:C0409983 ICD9:795.79" UBERON:0000113 -MONDO:0018588 "A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands." "Orphanet:439224 ICD10:E85.8" +MONDO:0018588 "A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands." "ICD10CM:E85.8 Orphanet:439224" UBERON:0000379 UBERON:0002512 ECTO:9002063 "An exposure to food component." -MONDO:0019692 "Orphanet:93429 ICD10:Q78.8" +MONDO:0019692 "ICD10CM:Q78.8 Orphanet:93429" MONDO:0007426 "MESH:C567079 UMLS:C2607947 OMIM:125000" -MONDO:0013587 "A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner." "Orphanet:2364 Orphanet:284435 MESH:C563641 OMIM:614128 ICD10:E74.0 UMLS:C3279904 GARD:0003161" +MONDO:0013587 "A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner." "Orphanet:2364 Orphanet:284435 MESH:C563641 OMIM:614128 UMLS:C3279904 GARD:0003161 ICD10CM:E74.0" GO:0060073 "The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body." MONDO:0017293 http://identifiers.org/hgnc/30668 @@ -22011,30 +21999,30 @@ MONDO:0002636 "A disease involving the accessory XI nerve." "SCTID:84759007 MESH GO:0031348 "Any process that stops, prevents, or reduces the frequency, rate or extent of a defense response." http://identifiers.org/hgnc/5948 NCBITaxon:186623 "GC_ID:1" -MONDO:0007571 "Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder." "GARD:0006377 NCIT:C125383 Orphanet:306577 Orphanet:90026 SCTID:709489006 UMLS:C0014805 OMIM:133020 ICD10:I73.8" +MONDO:0007571 "Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder." "ICD10CM:I73.8 GARD:0006377 NCIT:C125383 Orphanet:306577 Orphanet:90026 SCTID:709489006 UMLS:C0014805 OMIM:133020" UBERON:0000114 -MONDO:0019312 "Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." "GARD:0006643 Orphanet:231531 Orphanet:280663 ICD9:270.2 OMIM:614077 OMIM:614074 DOID:3753 MedDRA:10071775 ICD10:E70.331 OMIM:203300 OMIM:614076 OMIMPS:203300 OMIM:614073 OMIM:614171 OMIM:608233 SCTID:9311003 ICD10:E70.3 NCIT:C37261 Orphanet:79430 OMIM:614075 OMIM:614072 Orphanet:231537 MESH:D022861" +MONDO:0019312 "Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity." "GARD:0006643 Orphanet:231531 Orphanet:280663 ICD9:270.2 OMIM:614077 OMIM:614074 DOID:3753 MedDRA:10071775 ICD10CM:E70.3 OMIM:203300 OMIM:614076 OMIMPS:203300 ICD10CM:E70.331 OMIM:614073 OMIM:614171 OMIM:608233 SCTID:9311003 NCIT:C37261 Orphanet:79430 OMIM:614075 OMIM:614072 Orphanet:231537 MESH:D022861" MONDO:0007427 "UMLS:C1852279 OMIM:125050 MESH:C565119" MONDO:0003904 "A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." "DOID:6510 NCIT:C6686 UMLS:C1335100" MONDO:0005142 "A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5." "EFO:0001077" -MONDO:0019691 "ICD9:756.3 SCTID:254050009 Orphanet:93426 ICD10:Q77.2" +MONDO:0019691 "ICD9:756.3 SCTID:254050009 Orphanet:93426 OMIM:617405" MONDO:0004294 "A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present." "NCIT:C40442 UMLS:C1517538 DOID:7591" MONDO:0015996 MONDO:0000878 "Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness." "DOID:0080160 MESH:D017726 EFO:1001302 UMLS:C0206178 SCTID:22455005 GARD:0009531 NCIT:C50521" HP:0033799 "Any deviation from the normal concentration of a sex hormone in the blood circulation" MONDO:0044627 "Orphanet:488239" -MONDO:0020418 "UMLS:C0267073 ICD10:Q25.4 SCTID:231719009 Orphanet:99082 ICD9:787.29" +MONDO:0020418 "UMLS:C0267073 SCTID:231719009 Orphanet:99082 ICD9:787.29 ICD10CM:Q25.4" GO:0043009 "The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching." MONDO:0023595 "Myotonic dystrophy that is present at birth." "NCIT:C123308 GARD:0009134 UMLS:C0410226" UBERON:0001579 -MONDO:0015484 "Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs." "ICD10:B69 GARD:0008194 ICD10:B69.8 UMLS:C0010678 UMLS:C0338437 ICD9:123.1 SCTID:59051007 ICD10:B69.9 EFO:0007231 Orphanet:1560 NCIT:C34520 MedDRA:10011775 ICD10:B69.0 MESH:D003551 DOID:10079 ICD10:B69.1" +MONDO:0015484 "Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs." "ICD10CM:B69.8 ICD10CM:B69.9 GARD:0008194 UMLS:C0338437 SCTID:59051007 EFO:0007231 NCIT:C34520 DOID:10079 MedDRA:10011775 UMLS:C0010678 ICD10CM:B69 ICD10CM:B69.1 MESH:D003551 ICD9:123.1 ICD10CM:B69.0 Orphanet:1560" UBERON:0036337 MONDO:0008626 "MESH:C566012 UMLS:C1860586 OMIM:191550" MONDO:0022815 "GARD:0009972 UMLS:C2931075 MESH:C535977" MONDO:0002497 "OBSOLETE. Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." "DOID:3044 MESH:D005512 SCTID:414285001 EFO:1001890" CL:0000514 "A precursor cell destined to differentiate into smooth muscle myocytes." "FMA:84798" -MONDO:0011103 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene." "DOID:0110564 ICD10:H90.3 MESH:C567277 UMLS:C2675750 GARD:0009933 OMIM:601544" -MONDO:0020485 "King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use." "MESH:C537504 OMIM:145600 MESH:C536883 GARD:0008433 SCTID:764957003 Orphanet:99741 ICD10:G71.2 GARD:0008561" +MONDO:0011103 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene." "DOID:0110564 MESH:C567277 UMLS:C2675750 GARD:0009933 OMIM:601544" +MONDO:0020485 "King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use." "MESH:C537504 ICD10CM:G71.2 OMIM:145600 MESH:C536883 GARD:0008433 SCTID:764957003 Orphanet:99741 GARD:0008561" MONDO:0004539 "A cancer that involves the aorta." "DOID:8352 UMLS:C1334560 NCIT:C5375" MONDO:0030260 "OMIM:619303" GO:0015723 "The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." @@ -22042,12 +22030,12 @@ http://identifiers.org/hgnc/29418 MONDO:0020594 "A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve)." "SCTID:398925009 NCIT:C27593" MONDO:0009819 UBERON:0000377 -MONDO:0005971 "Food poisoning that is caused by Staphylococcal infection." "NCIT:C35037 GARD:0009559 SCTID:84622004 DOID:96 MESH:D013202 ICD9:005.0 EFO:0007497 UMLS:C0038159 ICD10:A05.0" +MONDO:0005971 "Food poisoning that is caused by Staphylococcal infection." "NCIT:C35037 GARD:0009559 SCTID:84622004 DOID:96 MESH:D013202 ICD9:005.0 EFO:0007497 UMLS:C0038159" PO:0025497 "A plant structure (PO:0009011) that is a proper part of a whole plant (PO:0000003) and includes two or more adjacent plant organs (PO:0009008) or adjacent cardinal organ parts (PO:0025001), along with any associated portions of plant tissue (PO:0009007)." "PO_GIT:479" MONDO:0018239 "UMLS:CN227289 Orphanet:364817" GO:0000988 "OBSOLETE. Binding to a protein or protein complex, to modulate transcription. A protein binding transcription factor may or may not also interact with the template nucleic acid (either DNA or RNA) as well." UBERON:0011148 -MONDO:0001584 "SCTID:45030009 ICD9:378.9 GARD:0007237 EFO:1001990 DOID:1279" +MONDO:0001584 "SCTID:45030009 ICD9:378.9 GARD:0007237 ICD10CM:H49-H52 EFO:1001990 DOID:1279" MONDO:0013564 "OMIM:614081 UMLS:C3279786" UBERON:0002772 MONDO:0012100 "UMLS:C1837529 MESH:C563875 OMIM:608691" @@ -22061,20 +22049,20 @@ MONDO:0005695 "Inflammation of arteries in the central nervous system that occur MONDO:0012366 "MESH:C563686 UMLS:C1835924 OMIM:609919" MONDO:0014763 "OMIM:616754" http://identifiers.org/hgnc/29419 -MONDO:0020423 "ICD10:Q24.5 Orphanet:99087" +MONDO:0020423 "ICD10CM:Q24.5 Orphanet:99087" MONDO:0010804 "OMIM:600048 Orphanet:227535" MONDO:0011837 "Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene." "UMLS:C1843832 OMIM:607473 MESH:C564393" MONDO:0001602 "A carcinoma that arises from the labia minora." "NCIT:C9364 DOID:1293 UMLS:C1334357" UBERON:0000378 MONDO:0001890 "A tooth erosion, non-bacterial that involves the dental pulp." "ICD9:521.33 DOID:14140" UBERON:0000112 -MONDO:0001583 "DOID:12785 ICD10:G63.2 MESH:D003929 SCTID:49455004 ICD9:357.2 UMLS:C0271680" -MONDO:0011794 "OBSOLETE. Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." "Orphanet:33069 OMIM:615744 ICD10:G40.4 OMIM:612164" -MONDO:0016807 "Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes." "Orphanet:254854 SCTID:732245008 UMLS:C4517289 ICD10:G71.3" -MONDO:0006561 "Under-production of pigment in the eyelid." "ICD9:374.53 SCTID:68210006 ICD10:H02.73 UMLS:C0155212 DOID:11668 EFO:1000713" +MONDO:0001583 "DOID:12785 MESH:D003929 SCTID:49455004 ICD9:357.2 UMLS:C0271680" +MONDO:0011794 "OBSOLETE. Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." "Orphanet:33069 ICD10CM:G40.4 OMIM:615744 OMIM:612164" +MONDO:0016807 "Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes." "Orphanet:254854 ICD10CM:G71.3 SCTID:732245008 UMLS:C4517289" +MONDO:0006561 "Under-production of pigment in the eyelid." "ICD9:374.53 SCTID:68210006 UMLS:C0155212 DOID:11668 EFO:1000713" NCBITaxon:310911 "GC_ID:1" MONDO:0023182 "MESH:C537272 GARD:0002371 UMLS:C2931463" -MONDO:0001586 "The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome)." "GARD:0010335 OMIM:607015 OMIM:607014 NCIT:C85053 MedDRA:10056886 ICD10:E76.0 Orphanet:579 OMIM:607016 SCTID:75610003 DOID:12802" +MONDO:0001586 "The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome)." "GARD:0010335 OMIM:607015 OMIM:607014 NCIT:C85053 MedDRA:10056886 Orphanet:579 OMIM:607016 SCTID:75610003 DOID:12802" http://identifiers.org/hgnc/21181 MONDO:0044637 "Orphanet:494526" MONDO:0003153 "A brain stem glioma that occurs in an adult." "NCIT:C9091 DOID:4813 UMLS:C0278873" @@ -22083,21 +22071,21 @@ UBERON:0003970 MONDO:0003447 "An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells." "NCIT:C7567 UMLS:C1370701 DOID:5443" MONDO:0018237 "UMLS:C1332140 DOID:0060379 NCIT:C35795 Orphanet:364574" MONDO:0044635 "Orphanet:494444" -MONDO:0019153 "Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay." "ICD10:Q87.8 UMLS:C4303545 SCTID:717943008 Orphanet:75389" +MONDO:0019153 "Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay." "ICD10CM:Q87.8 UMLS:C4303545 SCTID:717943008 Orphanet:75389" MONDO:0001582 "UMLS:C0155196 ICD9:374.14 SCTID:28914006 DOID:12782" UBERON:0000375 MONDO:0012828 "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene." "Orphanet:334 OMIM:612240 MESH:C567389 UMLS:C2677106" NCBITaxon:372083 "GC_ID:1" -MONDO:0013866 "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene." "DOID:0110732 Orphanet:314629 UMLS:C3539123 ICD10:E75.4 OMIM:614706 Orphanet:79262" -MONDO:0017039 "UMLS:CN202350 ICD10:J70.3 Orphanet:264978 ICD10:J70.0 ICD10:J70.4 ICD10:J70.2 ICD10:J70.1" +MONDO:0013866 "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene." "DOID:0110732 Orphanet:314629 UMLS:C3539123 OMIM:614706 ICD10CM:E75.4 Orphanet:79262" +MONDO:0017039 "UMLS:CN202350 ICD10CM:J70.3 ICD10CM:J70.1 ICD10CM:J70.0 Orphanet:264978 ICD10CM:J70.2 ICD10CM:J70.4" UBERON:8300000 CL:2000081 "Any melanocyte of skin that is part of a skin of face." -MONDO:0011192 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene." "MESH:C566580 ICD10:H90.3 DOID:0110473 OMIM:602092 UMLS:C1865870" +MONDO:0011192 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene." "MESH:C566580 DOID:0110473 OMIM:602092 UMLS:C1865870" UBERON:0001576 MONDO:0044636 "Orphanet:494457" UBERON:0001310 -MONDO:0005119 "An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers." "ICD10:A22 ICD10:A22.9 SCTID:409498004 NCIT:C84565 MESH:D000881 ICD9:022 EFO:0000778 ICD9:022.9 ICD9:022.8 GARD:0008157 UMLS:C0003175 DOID:7427" -MONDO:0020425 "Orphanet:99089 ICD10:Q24.5" +MONDO:0005119 "An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers." "SCTID:409498004 NCIT:C84565 MESH:D000881 ICD9:022 EFO:0000778 ICD9:022.9 ICD9:022.8 GARD:0008157 UMLS:C0003175 DOID:7427" +MONDO:0020425 "Orphanet:99089 ICD10CM:Q24.5" MONDO:0012102 "MESH:C563873 OMIM:608696 Orphanet:98977 UMLS:C1837527" GO:0002313 "The process in which a naive B cell acquires the specialized features of a mature or memory B cell during an immune response." GO:0017145 "The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types." @@ -22109,21 +22097,20 @@ UBERON:8300002 MONDO:0023180 "GARD:0002368" MONDO:0001581 CL:1001609 "Fibroblast from muscle organ." "CALOHA:TS-0643" -MONDO:0009093 "Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood." "SCTID:733044009 ICD10:E75.2 Orphanet:1659 OMIM:221790 GARD:0001813 MESH:C538220 UMLS:C1857314" +MONDO:0009093 "Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood." "SCTID:733044009 Orphanet:1659 OMIM:221790 ICD10CM:E75.2 GARD:0001813 MESH:C538220 UMLS:C1857314" UBERON:0000376 -MONDO:0014250 "Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients." "OMIM:615555 SCTID:763715007 Orphanet:397685 ICD10:E22.1" +MONDO:0014250 "Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients." "OMIM:615555 SCTID:763715007 ICD10CM:E22.1 Orphanet:397685" GO:0005720 UBERON:8300001 ENVO:01001680 "A fluid front which is composed primarily of gaseous material and separates at least two gaseous masses." -MONDO:0010265 "Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported." "DOID:0080342 MESH:C564567 ICD10:Q87.3 OMIM:300209 Orphanet:79022 UMLS:C1846175" +MONDO:0010265 "Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported." "DOID:0080342 MESH:C564567 OMIM:300209 Orphanet:79022 ICD10CM:Q87.3 UMLS:C1846175" MONDO:0012369 "OMIM:609939" FOODON:03414374 "The biological subfamily *Bovinae* includes a diverse group of 10 genera of medium- to large-sized ungulates, including domestic cattle, the bison, African buffalo, the water buffalo, the yak, and the four-horned and spiral-horned antelopes. The evolutionary relationship between the members of the group is obscure, and their classification into loose tribes rather than formal subgroups reflects this uncertainty. General characteristics include cloven hoofs and usually at least one of the sexes of a species having true horns."@en -MONDO:0002780 UBERON:0001575 MONDO:0022821 "GARD:0001474" HP:0002823 "Any anomaly of the structure of the femur." "UMLS:C4021750" -MONDO:0017919 "A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus." "NCIT:C99142 OMIM:600057 DOID:0080173 UMLS:C1850321 GARD:0002207 Orphanet:322 OMIM:258040 ICD10:Q64.1" -MONDO:0012926 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene." "DOID:0110060 OMIM:612529 UMLS:C2675858 MESH:C567279 Orphanet:100033 ICD10:K00.5" +MONDO:0017919 "A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus." "NCIT:C99142 OMIM:600057 DOID:0080173 UMLS:C1850321 GARD:0002207 Orphanet:322 OMIM:258040 ICD10CM:Q64.1" +MONDO:0012926 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene." "DOID:0110060 OMIM:612529 UMLS:C2675858 MESH:C567279 Orphanet:100033" MONDO:0014766 "OMIM:616763 UMLS:C4225213" http://identifiers.org/hgnc/11303 MONDO:0018235 "Orphanet:364568" @@ -22133,23 +22120,23 @@ GO:0002520 "The process whose specific outcome is the progression of an organism UBERON:8300003 NCIT:C83490 MONDO:0021634 "A epithelial neoplasm that involves the zone of skin." "NCIT:C7342 UMLS:C0345976" -MONDO:0017189 "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" "SCTID:717044000 UMLS:C4274082 Orphanet:276608 ICD10:E16.1" +MONDO:0017189 "Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide" "SCTID:717044000 UMLS:C4274082 ICD10CM:E16.1 Orphanet:276608" MONDO:0015333 "A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are." "UMLS:CN199363 Orphanet:139033" MONDO:0017037 "Orphanet:264968 UMLS:CN202348" http://identifiers.org/hgnc/12766 -MONDO:0011812 "A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant." "SCTID:699867001 ICD9:759.89 DOID:0060747 UMLS:CN206803 Orphanet:959 Orphanet:93293 OMIM:607323 SCTID:720415006 ICD10:Q87.8 GARD:0009182" -MONDO:0019789 "Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue." "ICD10:M35.8 Orphanet:94087 SCTID:238883003 UMLS:C0406594" +MONDO:0011812 "A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant." "OMIM:607323 Orphanet:959 UMLS:CN206803 Orphanet:93293 ICD9:759.89 SCTID:699867001 DOID:0060747 GARD:0009182 SCTID:720415006 ICD10CM:Q87.8" +MONDO:0019789 "Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue." "ICD10CM:M35.8 Orphanet:94087 SCTID:238883003 UMLS:C0406594" MONDO:0019698 "SCTID:254095002 Orphanet:93439 ICD9:756.59 UMLS:C0432238" GO:1904363 "Any process that stops, prevents or reduces the frequency, rate or extent of calcitonin secretion." MONDO:0013812 "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene." "Orphanet:2995 OMIM:614583 UMLS:C3281235" MONDO:0013689 "Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene." "DOID:0080495 UMLS:C3280471 Orphanet:243 OMIM:614324" -MONDO:0011959 "Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis." "Orphanet:3243 NCIT:C85177 ICD9:702.8 ICD10:L98.2 MESH:D016463 MedDRA:10000748 SCTID:84625002 OMIM:608068 GARD:0000521 UMLS:C0085077" +MONDO:0011959 "Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis." "Orphanet:3243 NCIT:C85177 ICD9:702.8 MESH:D016463 MedDRA:10000748 SCTID:84625002 OMIM:608068 GARD:0000521 UMLS:C0085077" MONDO:0024384 MONDO:0022820 "GARD:0001473" MONDO:0014501 "OMIM:616118 UMLS:C4015286" MONDO:0044632 "Orphanet:494424" MONDO:0018236 "Orphanet:364571" -MONDO:0016470 "Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures." "MESH:C565178 Orphanet:230857 UMLS:CN201460 ICD10:Q79.6 OMIMPS:619115" +MONDO:0016470 "Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures." "MESH:C565178 Orphanet:230857 ICD10CM:Q79.6 UMLS:CN201460 OMIMPS:619115" CHEBI:25212 "Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites." UBERON:8300004 MONDO:0001833 "Blockage of the tear duct." "MESH:D007767 SCTID:416920000 NCIT:C34757 DOID:13929" @@ -22158,7 +22145,7 @@ MONDO:0019697 "Orphanet:93438 UMLS:CN229208" MONDO:0023186 "UMLS:C2930912 GARD:0002373 MESH:C535481" http://identifiers.org/hgnc/452 MONDO:0017038 "Orphanet:264973 UMLS:CN202349" -MONDO:0017816 "Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement." "ICD10:E85.3 ICD10:E85.0 UMLS:C0268380 SCTID:89449005 NCIT:C8299 ICD10:E85.1 OMIM:254500 ICD10:E85.2 Orphanet:314701 UMLS:C0281479" +MONDO:0017816 "Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement." "UMLS:C0268380 ICD10CM:E85.2 SCTID:89449005 NCIT:C8299 ICD10CM:E85.3 ICD10CM:E85.0 OMIM:254500 ICD10CM:E85.1 Orphanet:314701 UMLS:C0281479" HP:0000711 "A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress." "UMLS:C3887611 SNOMEDCT_US:162221009" MONDO:0021372 "A neoplasm (disease) that involves the temporal lobe." "SCTID:126955002 NCIT:C5567 UMLS:C1263887" MONDO:0044631 "Orphanet:494348" @@ -22166,31 +22153,31 @@ HP:0030191 "An anomaly in the communication from a neuron to a target across a s MONDO:0002740 "A rare mucinous adenocarcinoma that arises from the uterine ligament." "UMLS:C1519869 DOID:3699 NCIT:C40137" MONDO:0016937 "SCTID:726358004 Orphanet:262687" GO:1902622 "Any process that modulates the frequency, rate or extent of neutrophil migration." -MONDO:0018499 "Orphanet:423712 ICD10:Q24.8" +MONDO:0018499 "Orphanet:423712 ICD10CM:Q24.8" GO:0045605 "Any process that stops, prevents, or reduces the frequency, rate or extent of epidermal cell differentiation." MONDO:0003968 "A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas." "NCIT:C6472 UMLS:C1332342 DOID:6697" MONDO:0003051 "Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present." "NCIT:C27625 DOID:4560 UMLS:C1335061" MONDO:0017035 "Orphanet:264949 UMLS:CN202347" http://identifiers.org/hgnc/451 http://identifiers.org/hgnc/14064 -MONDO:0011468 "Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic." "ICD10:G60.0 OMIM:604484 GARD:0010131 MESH:C535717 Orphanet:90117" -MONDO:0008421 "Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994." "ICD10:Q87.0 Orphanet:1968 MESH:C537339 GARD:0004873 OMIM:182150 UMLS:C1866962" +MONDO:0011468 "Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic." "OMIM:604484 ICD10CM:G60.0 GARD:0010131 MESH:C535717 Orphanet:90117" +MONDO:0008421 "Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994." "Orphanet:1968 ICD10CM:Q87.0 MESH:C537339 GARD:0004873 OMIM:182150 UMLS:C1866962" HP:0003112 "The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation." "UMLS:C4025653" -MONDO:0016450 "Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH)." "UMLS:CN201401 ICD10:D59.1 Orphanet:228312" +MONDO:0016450 "Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH)." "UMLS:CN201401 ICD10CM:D59.1 Orphanet:228312" NCBITaxon:214035 "GC_ID:1" MONDO:0016938 "SCTID:726360002 UMLS:C4518509 Orphanet:262692" CL:1000281 "A smooth muscle cell that is part of the cecum." "FMA:15681" UBERON:0001572 GO:0000791 "A dispersed and relatively uncompacted form of chromatin." MONDO:0044630 -MONDO:0020421 "Orphanet:99085 ICD10:Q24.5" -MONDO:0020523 "An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome." "UMLS:C1840403 ICD10:E21.0 OMIM:145000 Orphanet:99877" +MONDO:0020421 "Orphanet:99085 ICD10CM:Q24.5" +MONDO:0020523 "An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome." "UMLS:C1840403 ICD10CM:E21.0 OMIM:145000 Orphanet:99877" GO:0043555 "Modulation of the frequency, rate or extent of translation as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation)." FOODON:00002645 "A food product organized by the process which it results from."@en MONDO:0014769 "OMIMPS:615774 UMLS:CN238505 UMLS:C4225210 OMIM:616780" http://identifiers.org/hgnc/11566 MONDO:0005031 "A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern." "EFO:0000497 GARD:0006439 SCTID:723976005 OMIM:135290 NCIT:C3042" -MONDO:0012625 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene." "DOID:0110399 Orphanet:791 UMLS:C1970163 OMIM:611131 ICD10:H35.5 MESH:C567005" +MONDO:0012625 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene." "DOID:0110399 Orphanet:791 UMLS:C1970163 OMIM:611131 MESH:C567005" NCBITaxon:42458 "GC_ID:1 PMID:17997297" UBERON:0001571 http://identifiers.org/hgnc/12765 @@ -22201,79 +22188,78 @@ MONDO:0019699 "Orphanet:93440" GO:0098803 "Any protein complex that is part of a respiratory chain." MONDO:0012107 "MESH:C563870 OMIM:608720 UMLS:C1837492" CL:0011026 "A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses." -MONDO:0017776 "Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection." "ICD10:A43 MESH:D009617 ICD10:A43.0 EFO:0007397 ICD10:A43.8 GARD:0007210 ICD10:A43.1 DOID:2312 MedDRA:10029444 SCTID:29227009 Orphanet:31204 ICD10:A43.9" +MONDO:0017776 "Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection." "DOID:2312 MESH:D009617 MedDRA:10029444 ICD10CM:A43.0 ICD10CM:A43.8 GARD:0007210 EFO:0007397 ICD10CM:A43.1 ICD10CM:A43.9 SCTID:29227009 Orphanet:31204 ICD10CM:A43" MONDO:0100052 "Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide." CL:0010008 MONDO:0011161 "OMIM:601876" CHEBI:38702 -MONDO:0008981 "This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities." "Orphanet:1313 MESH:C535357 UMLS:C1859092 GARD:0001313 OMIM:215480 SCTID:724228005 ICD10:G93.8" +MONDO:0008981 "This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities." "Orphanet:1313 MESH:C535357 UMLS:C1859092 GARD:0001313 OMIM:215480 ICD10CM:G93.8 SCTID:724228005" NCBITaxon:1489388 "GC_ID:1" MONDO:0021499 "A benign neoplasm that involves the cerebellum." "NCIT:C4955 SCTID:92050000" -MONDO:0001708 "Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss." "ICD10:D86.0 DOID:13406 ICD9:517.8 NCIT:C34997 MESH:D017565 UMLS:C0036205 SCTID:24369008" -MONDO:0011530 "Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported." "Orphanet:85170 OMIM:605274 ICD10:Q78.8 UMLS:C1854470 MESH:C565349 SCTID:715652002 GARD:0010584" +MONDO:0001708 "Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss." "DOID:13406 ICD9:517.8 NCIT:C34997 MESH:D017565 UMLS:C0036205 SCTID:24369008" +MONDO:0011530 "Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported." "Orphanet:85170 OMIM:605274 ICD10CM:Q78.8 UMLS:C1854470 MESH:C565349 SCTID:715652002 GARD:0010584" MONDO:0042499 "OMIM:601764 GARD:0000856 Orphanet:306" -MONDO:0020516 "Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation." "UMLS:CN207412 UMLS:C2210965 SCTID:716653001 ICD10:C37 Orphanet:99869" +MONDO:0020516 "Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation." "UMLS:CN207412 UMLS:C2210965 SCTID:716653001 ICD10CM:C37 Orphanet:99869" CHEBI:50511 "Compounds containing a bipyridine group." MONDO:0003073 "Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999)." "DOID:4647 UMLS:C2608045 NCIT:C7019" CL:0010009 http://identifiers.org/hgnc/28213 MONDO:0020681 "OMIM:601776 NCIT:C168975" -MONDO:0017675 "A palmoplantar keratosis characterized by keratoses with a \"raindrop\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." "Orphanet:307967 SCTID:402773000 ICD10:Q82.8 DOID:0060361 UMLS:C4024851" +MONDO:0017675 "A palmoplantar keratosis characterized by keratoses with a \"raindrop\" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." "ICD10CM:Q82.8 Orphanet:307967 SCTID:402773000 DOID:0060361 UMLS:C4024851" http://identifiers.org/hgnc/2345 CHEBI:23390 -MONDO:0009863 "An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits." "SCTID:237914002 GARD:0005682 DOID:0090106 NCIT:C138171 OMIM:261640 Orphanet:13 MESH:C535325 Orphanet:238583 ICD10:E70.1 GARD:5682 UMLS:C0878676" +MONDO:0009863 "An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits." "ICD10CM:E70.1 SCTID:237914002 GARD:0005682 DOID:0090106 NCIT:C138171 OMIM:261640 Orphanet:13 MESH:C535325 Orphanet:238583 GARD:5682 UMLS:C0878676" MONDO:0003903 "A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells." "UMLS:C1511107 DOID:6505 NCIT:C40280" MONDO:0004084 MONDO:0008197 "Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene." "Orphanet:60015 OMIM:168500" -MONDO:0003618 "The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain." "UMLS:C0034220 NCIT:C34968 SCTID:397810006 ICD10:N70 DOID:5732" -MONDO:0010807 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." "UMLS:C1838701 MESH:C564007 DOID:0110477 ICD10:H90.3 OMIM:600060" +MONDO:0003618 "The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain." "UMLS:C0034220 NCIT:C34968 SCTID:397810006 DOID:5732" +MONDO:0010807 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." "UMLS:C1838701 MESH:C564007 DOID:0110477 OMIM:600060" http://identifiers.org/hgnc/3544 -MONDO:0001756 "A malignant neoplasm involving the frontal sinus." "NCIT:C3542 DOID:1360 SCTID:363427000 ICD10:C31.2 UMLS:C0153478 ICD9:160.4" +MONDO:0001756 "A malignant neoplasm involving the frontal sinus." "NCIT:C3542 ICD10CM:C31.2 DOID:1360 SCTID:363427000 UMLS:C0153478 ICD9:160.4" MONDO:0002524 MONDO:0024240 "An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma." "UMLS:C1707878 UMLS:C1302864 UMLS:C1266066 NCIT:C27255 ICDO:8413/3 DOID:4920 SCTID:400173004" -MONDO:0005674 "A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint." "EFO:0007176 SCTID:697970009 GARD:0013046 HP:0011847 Orphanet:363976 DOID:4305 ICD10:D48.0 MESH:D018212 UMLS:C0206638 ONCOTREE:GCTB NCIT:C121932" +MONDO:0005674 "A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint." "EFO:0007176 SCTID:697970009 GARD:0013046 HP:0011847 ICD10CM:D48.0 Orphanet:363976 DOID:4305 MESH:D018212 UMLS:C0206638 ONCOTREE:GCTB NCIT:C121932" MONDO:0042498 "UMLS:C2931438 GARD:0000210 MESH:C537192" -MONDO:0009897 "Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." "MESH:C564878 SCTID:721099001 ICD10:E74.0 GARD:0000108 OMIM:263570 Orphanet:206583" +MONDO:0009897 "Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." "MESH:C564878 SCTID:721099001 GARD:0000108 OMIM:263570 Orphanet:206583 ICD10CM:E74.0" UBERON:0006208 MONDO:0005334 "A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane." "EFO:0004128 SCTID:399340005 MESH:D009394" NCBITaxon:2805591 "GC_ID:11" -MONDO:0019756 "Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." "SCTID:253136007 OMIM:609637 OMIM:157170 OMIM:610829 ICD10:Q04.2 Orphanet:93924" +MONDO:0019756 "Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." "SCTID:253136007 OMIM:609637 ICD10CM:Q04.2 OMIM:157170 OMIM:610829 Orphanet:93924" MONDO:0005285 MONDO:0005166 "A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course." "HP:0100246 ICDO:9180/0 EFO:0002423 MESH:D010016 UMLS:C0029440 SCTID:302858007 NCIT:C3296" http://identifiers.org/hgnc/2348 CHEBI:38700 GO:0042481 "Any process that modulates the frequency, rate or extent of the formation and development of a tooth or teeth." MONDO:0020682 "OMIM:130070" -MONDO:0011377 "An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." "ICD10:I45.8 MESH:C565840 Orphanet:768 OMIM:603830 GARD:0003286 NCIT:C137959 Orphanet:101016 UMLS:C2931401 DOID:0110646 UMLS:C1859062" +MONDO:0011377 "An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." "MESH:C565840 Orphanet:768 OMIM:603830 GARD:0003286 NCIT:C137959 Orphanet:101016 UMLS:C2931401 DOID:0110646 UMLS:C1859062" CL:0009038 "A macrophage that is located in the colon." CHEBI:25384 "An oxoacid containing a single carboxy group." -MONDO:0005487 "A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms." "DOID:5418 ICD10:F25 EFO:0005411 ICD10:F25.9 ICD9:295.7 NCIT:C94378" +MONDO:0005487 "A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms." "DOID:5418 EFO:0005411 ICD9:295.7 NCIT:C94378" MONDO:0003615 "Any nerve disorder caused by the entrapment and compression of a nerve." "DOID:573 NCIT:C27221 MESH:D009408 SCTID:45781009" http://identifiers.org/hgnc/25716 MONDO:0009214 "Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing." "DOID:0111083 OMIM:227646 NCIT:C125706 UMLS:C3160738" MONDO:0004873 "A hemorrhoid which originates above the dentate line." "SCTID:90458007 NCIT:C35319 ICD9:455.6 DOID:9749 UMLS:C0265034 ICD9:455.2" MONDO:0002521 -MONDO:0011493 "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21)." "GARD:0005020 Orphanet:90654 UMLS:C1858084 NCIT:C74985 MESH:C537493 Orphanet:828 OMIM:604841 ICD10:Q87.5" +MONDO:0011493 "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21)." "GARD:0005020 Orphanet:90654 UMLS:C1858084 NCIT:C74985 MESH:C537493 Orphanet:828 OMIM:604841 ICD10CM:Q87.5" MONDO:0000126 MONDO:0004920 "ICD9:603.8 DOID:9912 SCTID:55434001 ICD9:603.9" -MONDO:0056799 "A disease or disorder that involves the layer of synovial tissue." "SCTID:3519007 ICD9:727.9 ICD9:727.89 UMLS:C0263945" +MONDO:0056799 "A disease or disorder that involves the layer of synovial tissue." "ICD10CM:M65-M67 SCTID:3519007 ICD9:727.89 ICD9:727.9 UMLS:C0263945" CHEBI:36309 MONDO:0018497 "OBSOLETE. Rare autonomic nervous system disease." "Orphanet:423662" UBERON:0006207 -MONDO:0000327 "A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers." "NCIT:C84604 DOID:0050456 EFO:1001281 SCTID:15845006 UMLS:C0085568 ICD10:A31.1 MESH:D054312" +MONDO:0000327 "A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers." "NCIT:C84604 DOID:0050456 EFO:1001281 SCTID:15845006 UMLS:C0085568 MESH:D054312" HP:0002153 "An abnormally increased potassium concentration in the blood." "UMLS:C0020461 MSH:D006947 SNOMEDCT_US:14140009 SNOMEDCT_US:166689004 SNOMEDCT_US:238142003" GO:0050433 "Any process that modulates the frequency, rate or extent of the regulated release of catecholamines." -MONDO:0003986 -MONDO:0001589 "DOID:1283 ICD9:618.6 SCTID:398061002 ICD10:K46 ICD10:N81.5" +MONDO:0001589 "DOID:1283 ICD9:618.6 SCTID:398061002" HP:0033747 "A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes." -MONDO:0005717 "An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans." "EFO:0007222 MESH:D004474 DOID:8771 UMLS:C0013570 SCTID:74050005 ICD10:B08.02 ICD9:051.2" -MONDO:0009537 "Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment." "SCTID:44274007 OMIM:247610 Orphanet:79128 NCIT:C27558 UMLS:C0264511 MedDRA:10062997 ICD10:J84.1 ICD9:516.8 MESH:C562489 ICD10:J84.2 DOID:0050159" +MONDO:0005717 "An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans." "EFO:0007222 MESH:D004474 DOID:8771 UMLS:C0013570 SCTID:74050005 ICD9:051.2" +MONDO:0009537 "Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment." "SCTID:44274007 OMIM:247610 Orphanet:79128 NCIT:C27558 UMLS:C0264511 MedDRA:10062997 ICD10CM:J84.1 ICD10CM:J84.2 ICD9:516.8 MESH:C562489 DOID:0050159" MONDO:0011471 "An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3." "UMLS:C1858303 DOID:0110891 MESH:C565764 OMIM:604519" -MONDO:0002878 "A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection." "GARD:0009636 NCIT:C6336 MESH:C538232 UMLS:CN201046 DOID:4113 UMLS:C1336917 Orphanet:213600 ONCOTREE:UAS ICD10:C54.2" +MONDO:0002878 "A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection." "GARD:0009636 NCIT:C6336 ICD10CM:C54.2 MESH:C538232 UMLS:CN201046 DOID:4113 UMLS:C1336917 Orphanet:213600 ONCOTREE:UAS" MONDO:0002910 "Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)" "DOID:4201 NCIT:C27596 MESH:D020427 UMLS:C0747533" MONDO:0012361 "OMIM:609903" http://identifiers.org/hgnc/1149 -MONDO:0013454 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene." "ICD10:H35.5 MESH:C564140 OMIM:613837 HGNC:6052 UMLS:C1840284 GARD:0010488 DOID:0110216" +MONDO:0013454 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene." "MESH:C564140 OMIM:613837 HGNC:6052 UMLS:C1840284 GARD:0010488 DOID:0110216" MONDO:0000125 http://identifiers.org/hgnc/3546 CHEBI:77941 "An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the action of amidase (EC 3.5.1.4)." @@ -22281,28 +22267,28 @@ ECTO:9001702 "An exposure to macronutrient." PATO:0001987 "A structural quality inhering in a bearer by virtue of the bearer's having a three dimensional cavity with a narrow or no opening, and often containing an anatomical substance." http://identifiers.org/hgnc/28216 GO:0048762 "The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types." -MONDO:0001588 "ICD9:375.03 DOID:12809 ICD10:H04.03 UMLS:C1300133 SCTID:4839005" -MONDO:0007931 "Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." "GARD:0010301 SCTID:763387005 UMLS:C0339510 Orphanet:1243 OMIM:153700 ICD10:H35.5 GARD:0000182" -MONDO:0002361 "A malignant neoplasm involving the transverse colon." "ICD9:153.1 DOID:261 ICD10:C18.4 UMLS:C0153434 SCTID:363408006" +MONDO:0001588 "ICD9:375.03 DOID:12809 UMLS:C1300133 SCTID:4839005" +MONDO:0007931 "Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." "GARD:0010301 SCTID:763387005 UMLS:C0339510 Orphanet:1243 ICD10CM:H35.5 OMIM:153700 GARD:0000182" +MONDO:0002361 "A malignant neoplasm involving the transverse colon." "ICD9:153.1 DOID:261 UMLS:C0153434 SCTID:363408006" MONDO:0033672 "Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap." "Orphanet:50817" -MONDO:0000809 "A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation." "MESH:D055665 ICD10:D65 SCTID:13507004 DOID:0060538 EFO:1001913" +MONDO:0000809 "A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation." "MESH:D055665 SCTID:13507004 DOID:0060538 EFO:1001913" GO:0090181 "Any process that modulates the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones." GO:0050765 "Any process that stops, prevents, or reduces the frequency, rate or extent of phagocytosis." PATO:0002143 http://identifiers.org/hgnc/29679 MONDO:0000124 -MONDO:0003620 "A disease involving the peripheral nervous system." "NCIT:C27580 ICD10:G64 ICD9:350-359.99 MESH:D010523 DOID:574 NCIT:C119734 SCTID:42658009 ICD9:356.9" +MONDO:0003620 "A disease involving the peripheral nervous system." "ICD10CM:G50-G59 MESH:D010523 ICD9:350-359.99 ICD10CM:G60-G65 NCIT:C27580 NCIT:C119734 DOID:574 SCTID:42658009 ICD9:356.9" CHEBI:35106 MONDO:0005092 "A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." "NCIT:C3774 MESH:D018279 UMLS:C0206696 ICDO:8490/3 DOID:3493 EFO:0000698" -MONDO:0008076 "An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm." "ICD10:G54.5 ICD9:353.5 Orphanet:2901 SCTID:3548001 DOID:10383 GARD:0003955 SCTID:26609002 MESH:D020968 OMIM:162100" +MONDO:0008076 "An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm." "ICD9:353.5 Orphanet:2901 SCTID:3548001 DOID:10383 GARD:0003955 SCTID:26609002 MESH:D020968 OMIM:162100" MONDO:0010800 "MESH:C564012 UMLS:C1838782 DOID:0080583 OMIM:598500 Orphanet:3463" -MONDO:0001321 "DOID:11595 ICD9:379.11 SCTID:111534007 ICD10:H15.84 UMLS:C0155359 HP:0030854" +MONDO:0001321 "DOID:11595 ICD9:379.11 SCTID:111534007 UMLS:C0155359 HP:0030854" MONDO:0001587 MONDO:0013561 "GARD:0011009 Orphanet:280586 OMIM:614078 UMLS:C3279757" UBERON:0005009 MONDO:0011164 "MESH:C535699 OMIM:601888 GARD:0003368 Orphanet:423" -MONDO:0019580 "Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk." "SCTID:717259002 ICD10:L98.5 UMLS:C4273966 Orphanet:90395" -MONDO:0009428 "OBSOLETE. Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait." "ICD10:E83.3 MESH:C562440 OMIM:241510 GARD:0008735 Orphanet:247667 DOID:0110915 UMLS:C0220743 SCTID:30174008 Orphanet:436" +MONDO:0019580 "Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk." "SCTID:717259002 ICD10CM:L98.5 UMLS:C4273966 Orphanet:90395" +MONDO:0009428 "OBSOLETE. Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait." "MESH:C562440 OMIM:241510 GARD:0008735 Orphanet:247667 DOID:0110915 UMLS:C0220743 SCTID:30174008 Orphanet:436 ICD10CM:E83.3" MONDO:0002470 "A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway" "UMLS:CN205101 GARD:0002944 DOID:2960 OMIM:601675 Orphanet:453" MONDO:0000389 "OMIM:256050 UMLS:CN163181 SCTID:43814000 OMIM:108721 OMIM:108720 DOID:0050648 OMIMPS:108720" GO:0035735 "The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly." @@ -22314,7 +22300,7 @@ GO:0007041 "The directed movement of substances into, out of or within a lysosom MONDO:0006145 "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage." "NCIT:C6902 DOID:4152 EFO:1000174 ICDO:9371/3 UMLS:C1266173" http://identifiers.org/hgnc/24519 MONDO:0044228 "OBSOLETE. Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002})." "OMIM:130190" -MONDO:0006928 "Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." "Orphanet:329211 MedDRA:10057896 DOID:9719 ICD10:H35.2 EFO:1001129 MESH:D018630 SCTID:232016005 UMLS:C0242852 OMIM:193235 ICD9:362.29" +MONDO:0006928 "Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." "Orphanet:329211 MedDRA:10057896 DOID:9719 EFO:1001129 MESH:D018630 SCTID:232016005 UMLS:C0242852 ICD10CM:H35.2 OMIM:193235 ICD9:362.29" MONDO:0014412 "Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene." "UMLS:C4014767 OMIM:615947 DOID:0111420 Orphanet:535458" MONDO:0013562 "Orphanet:1163 OMIM:614079" GO:0019901 "Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate." @@ -22324,10 +22310,10 @@ MONDO:0003981 MONDO:0013235 "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene." "OMIM:613347 Orphanet:1333" MONDO:0014760 "Orphanet:476113 UMLS:C4225219 OMIM:616740" MONDO:0000388 -MONDO:0001320 "ICD9:379.15 DOID:11594 ICD10:H15.85 UMLS:C0155363 SCTID:5299007" +MONDO:0001320 "ICD9:379.15 DOID:11594 UMLS:C0155363 SCTID:5299007" MONDO:0000122 MONDO:0006585 "Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin." "SCTID:267854005 UMLS:C0149922 DOID:3309 EFO:1000740 UMLS:C0027822 NCIT:C111963 MESH:D009450" -MONDO:0011124 "Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features." "OMIM:601668 MESH:C566644 UMLS:C1866507 ICD10:Q77.7 Orphanet:168451" +MONDO:0011124 "Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features." "OMIM:601668 ICD10CM:Q77.7 MESH:C566644 UMLS:C1866507 Orphanet:168451" GO:0009199 "The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar." MONDO:0005887 "Tuberculosis of the mouth, tongue, and salivary glands." "SCTID:235067001 MESH:D014393 UMLS:C0041323 ICD9:017.90 EFO:0007407 DOID:402 ICD9:528.9" GO:0033764 "Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP, and in which one substrate is a sterol derivative." @@ -22339,16 +22325,16 @@ CHEBI:17792 "A compound containing at least one carbon-halogen bond (where X is MONDO:0014761 "Orphanet:476102 OMIM:616744 UMLS:C4225218" MONDO:0042492 MONDO:0002784 -MONDO:0019645 "Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." "ICD10:Q61.4 HP:0012582 SCTID:204950001 Orphanet:93173" -MONDO:0002041 "An infection caused by a fungus." "SCTID:3218000 ICD10:B49 DOID:1564 ICD10:B35.B49 ICD9:110-118.99 NCIT:C3245 ICD10:B35-B49 MESH:D009181 ICD9:117.9" +MONDO:0019645 "Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." "ICD10CM:Q61.4 HP:0012582 SCTID:204950001 Orphanet:93173" +MONDO:0002041 "An infection caused by a fungus." "SCTID:3218000 DOID:1564 ICD9:110-118.99 NCIT:C3245 ICD10CM:B35-B49 MESH:D009181 ICD9:117.9" MONDO:0005246 "An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria." "ICD9:730.20 ICD9:730.96 ICD9:730.0 NCIT:C27577 EFO:0003102 ICD9:730.1 MESH:D010019 HP:0002754 ICD9:730.10 GARD:0007286 ICD9:730.94 SCTID:60168000 ICD9:730.92 ICD9:730.97 ICD9:730.11 UMLS:C0029443 ICD9:730.28 ICD9:730.01 ICD9:730.93 DOID:1019" GO:0042320 "Any process that modulates the frequency, rate or extent of rapid eye movement (REM) sleep." MONDO:0012365 "MESH:C563687 OMIM:609918 UMLS:C1835925" UBERON:5006052 MONDO:0000121 -MONDO:0009845 "Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism." "OMIM:260660 GARD:0001555 ICD10:Q87.5 UMLS:C1850040 SCTID:719299009 MESH:C535550 Orphanet:93333" +MONDO:0009845 "Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism." "OMIM:260660 GARD:0001555 UMLS:C1850040 ICD10CM:Q87.5 SCTID:719299009 MESH:C535550 Orphanet:93333" http://identifiers.org/hgnc/10360 -MONDO:0015991 "Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency)." "ICD10:E72.2 SCTID:398680004 NCIT:C84639 OMIM:605814 MESH:D020159 ICD10:E72.23 OMIM:603471 SCTID:124711003 UMLS:C0175683 DOID:9273 OMIM:215700 Orphanet:187" +MONDO:0015991 "Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency)." "SCTID:398680004 NCIT:C84639 OMIM:605814 MESH:D020159 ICD10CM:E72.23 OMIM:603471 SCTID:124711003 UMLS:C0175683 DOID:9273 OMIM:215700 ICD10CM:E72.2 Orphanet:187" UBERON:0005004 MONDO:0007432 "ICD9:323.9 OMIMPS:125310 DOID:13945 ICD9:447.8 Orphanet:136" http://identifiers.org/hgnc/2592 @@ -22358,14 +22344,14 @@ GO:0090278 "Any process that decreases the rate, frequency, or extent of the reg UBERON:0004906 MONDO:0016740 "A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO)" "UMLS:C1332876 Orphanet:252015 UMLS:CN201988 NCIT:C7012" GO:0009311 "The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages." -MONDO:0010619 "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." "ICD10:E83.3 GARD:0012943 DOID:0050445 ICD10:E83.31 SCTID:82236004 OMIM:300554 OMIM:307800 Orphanet:89936" -MONDO:0016082 "ICD10:Q87.8 UMLS:CN226834 Orphanet:2042" +MONDO:0010619 "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." "GARD:0012943 DOID:0050445 SCTID:82236004 OMIM:300554 OMIM:307800 ICD10CM:E83.3 Orphanet:89936" +MONDO:0016082 "ICD10CM:Q87.8 UMLS:CN226834 Orphanet:2042" MONDO:0032656 "OMIM:618284" CL:0000559 "A precursor in the monocytic series, being a cell intermediate in development between the monoblast and monocyte. This cell is CD11b-positive and has fine azurophil granules." "FMA:83551 BTO:0004657" http://identifiers.org/hgnc/7230 -MONDO:0009123 "Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension." "ICD9:270.8 ICD10:G90.8 DOID:0090145 MESH:C535600 SCTID:237923004 OMIM:223360 UMLS:C0342687 Orphanet:230 GARD:1903 GARD:0001903" +MONDO:0009123 "Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension." "ICD9:270.8 DOID:0090145 MESH:C535600 ICD10CM:G90.8 SCTID:237923004 OMIM:223360 UMLS:C0342687 Orphanet:230 GARD:1903 GARD:0001903" http://identifiers.org/hgnc/25964 -MONDO:0017226 "Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD)." "GARD:0012300 ICD10:E75.2 OMIM:612233 OMIM:300523 SCTID:717042001 OMIM:608804 Orphanet:280270 OMIM:260600" +MONDO:0017226 "Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD)." "GARD:0012300 OMIM:612233 OMIM:300523 SCTID:717042001 OMIM:608804 ICD10CM:E75.2 Orphanet:280270 OMIM:260600" MONDO:0007079 "Physical and psychological dependence on alcohol." "NCIT:C93040 EFO:0003829 ICD9:305.0 DOID:0050741 KEGG:05034 SCTID:66590003 OMIM:103780 ICD9:303.90" MONDO:0030860 "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene." "OMIM:619112" http://identifiers.org/hgnc/1394 @@ -22382,28 +22368,28 @@ UBERON:0005005 http://identifiers.org/hgnc/2591 MONDO:0019750 "OBSOLETE. Any of the forms of urinary system disease that have a rare incidence." "UMLS:CN206681 Orphanet:93626" MONDO:0011828 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene." "OMIM:607417 UMLS:C1843942 MESH:C564404" -MONDO:0009691 "Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors." "ONCOTREE:MYCF OMIM:254400 ICD10:C84.0 SCTID:118618005 UMLS:C0026948 NCIT:C3246 ICD9:202.1 DOID:8691 ICD10:C84.00 GARD:0003863 ICDO:9700/3 Orphanet:2584 MedDRA:10028483 MESH:D009182 EFO:1001051" +MONDO:0009691 "Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors." "ONCOTREE:MYCF OMIM:254400 SCTID:118618005 ICD10CM:C84.0 UMLS:C0026948 NCIT:C3246 ICD9:202.1 DOID:8691 GARD:0003863 ICDO:9700/3 Orphanet:2584 MedDRA:10028483 MESH:D009182 EFO:1001051" UBERON:0004907 CHR:9606-chr22q MONDO:0026765 "OMIM:301045" BFO:0000029 MONDO:0025510 "A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." "EFO:1001410 GARD:0011989 MESH:D058968 UMLS:C0276912" -MONDO:0015459 "A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma." "OMIM:161550 Orphanet:150 ICD9:147.9 UMLS:C2931822 UMLS:C3647449 UMLS:C3665551 UMLS:C0153392 OMIM:607107 ICD10:C11.9 MESH:C538339 ICD10:C11.2 ICD10:C11.3 MESH:D00007727 ICD9:147.3 OMIM:617075 UMLS:C0153396 UMLS:C0238301 SCTID:187692001 SCTID:363398003 ICD9:147.1 MESH:D009303 UMLS:C0153395 ICD10:C11.0 ICD10:C11.1 ICD9:147.2 ICD9:147 NCIT:C3871 MedDRA:10028793 ONCOTREE:NPC UMLS:CN199582 ICD10:C11 ICD9:147.0 DOID:9261 UMLS:C0153393 UMLS:C0153394 NCIT:C9321" +MONDO:0015459 "A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma." "ICD10CM:C11.0 OMIM:161550 Orphanet:150 ICD9:147.9 UMLS:C2931822 UMLS:C3647449 UMLS:C3665551 UMLS:C0153392 OMIM:607107 MESH:C538339 MESH:D00007727 ICD9:147.3 OMIM:617075 UMLS:C0153396 ICD10CM:C11.3 UMLS:C0238301 SCTID:187692001 SCTID:363398003 ICD9:147.1 MESH:D009303 UMLS:C0153395 ICD9:147.2 ICD10CM:C11.2 ICD9:147 NCIT:C3871 MedDRA:10028793 ONCOTREE:NPC UMLS:CN199582 ICD9:147.0 DOID:9261 ICD10CM:C11.1 UMLS:C0153393 UMLS:C0153394 NCIT:C9321" http://identifiers.org/hgnc/7497 -MONDO:0019928 "The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." "ICD10:Q98.1 ICD9:758.81 NCIT:C89799 UMLS:C0265498 GARD:0005676 Orphanet:96263 SCTID:78317008 MedDRA:10048228" +MONDO:0019928 "The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males." "ICD9:758.81 NCIT:C89799 UMLS:C0265498 GARD:0005676 ICD10CM:Q98.1 Orphanet:96263 SCTID:78317008 MedDRA:10048228" MONDO:0021381 "A neoplasm (disease) that involves the pericardium." "ICD9:239.89 NCIT:C4651 SCTID:126734005" MONDO:0032655 "OMIM:618283 DOID:0070356" MONDO:0022809 "GARD:0001448" MONDO:0004544 "A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma." "DOID:8368 UMLS:C1370510 EFO:1000176 NCIT:C6908 ONCOTREE:CHOM" GO:0032109 "Any process that activates or increases the frequency, rate or extent of a response to nutrient levels." -MONDO:0014400 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene." "DOID:0110392 ICD10:H35.5 UMLS:C4014681 OMIM:615922" +MONDO:0014400 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene." "DOID:0110392 UMLS:C4014681 OMIM:615922" CHEBI:25696 "Any organic ion with a net negative charge." CL:0000011 "Cell that is part of the migratory trunk neural crest population. Migratory trunk neural crest cells develop from premigratory trunk neural crest cells and have undergone epithelial to mesenchymal transition and delamination." CHEBI:22492 "Any aldehyde which contains an amino group." HP:0002536 "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain." "UMLS:C1856019" http://identifiers.org/hgnc/1393 UBERON:0012356 -MONDO:0007434 "OMIM:125350 Orphanet:412206 DOID:0111341 MESH:C565114 UMLS:C1852222 ICD10:K00.8" +MONDO:0007434 "ICD10CM:K00.8 OMIM:125350 Orphanet:412206 DOID:0111341 MESH:C565114 UMLS:C1852222" GO:0007036 "Any process involved in the maintenance of an internal steady state of calcium ions in the vacuole or between a vacuole and its surroundings." GO:2000294 "Any process that activates or increases the frequency, rate or extent of defecation." GO:0008607 "Modulation of the activity of the enzyme phosphorylase kinase." @@ -22411,13 +22397,13 @@ UBERON:0005006 http://identifiers.org/hgnc/6297 CHEBI:23824 "A compound that contains two hydroxy groups, generally assumed to be, but not necessarily, alcoholic. Aliphatic diols are also called glycols." MONDO:0032659 "OMIM:618287" -MONDO:0009833 "Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." "Orphanet:811 NCIT:C61235 MESH:C537330 MedDRA:10067940 DOID:0080023 OMIMPS:260400 DOID:0060479 GARD:0004863 ICD10:D61.0 OMIM:260400 SCTID:89454001" +MONDO:0009833 "Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation." "Orphanet:811 NCIT:C61235 MESH:C537330 MedDRA:10067940 DOID:0080023 OMIMPS:260400 DOID:0060479 GARD:0004863 ICD10CM:D61.0 OMIM:260400 SCTID:89454001" http://identifiers.org/hgnc/2594 MONDO:0026768 "OMIM:301052" PO:0025007 "A collective plant structure (PO:0025497) that is a proper part of a whole plant (PO:0000003), and is composed of two or more adjacent plant organs (PO:0009008) and the associated portions of plant tissue (PO:0009007)." "PO_GIT:63" UBERON:0004908 http://identifiers.org/hgnc/5099 -MONDO:0004579 "An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision." "UMLS:C0152439 SCTID:44268007 ICD10:H33.10 ICD9:361.10 NCIT:C85046 DOID:8465 MESH:D041441" +MONDO:0004579 "An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision." "UMLS:C0152439 SCTID:44268007 ICD9:361.10 NCIT:C85046 DOID:8465 MESH:D041441" MONDO:0006236 MONDO:0060766 "A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma." "NCIT:C3957 SCTID:88580009 UMLS:C0267573" http://identifiers.org/hgnc/7494 @@ -22428,7 +22414,7 @@ http://identifiers.org/hgnc/3791 MONDO:0013343 "C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor." "OMIM:613652 UMLS:C3150902 GARD:0012958 Orphanet:169147 NCIT:C119990" MONDO:0015981 "Orphanet:183734 UMLS:CN200581" CHEBI:61313 "A steroid that has a structure based on a 21-carbon (pregnane) skeleton. Note that individual examples may have ring substituents at other positions and/or contain double bonds, aromatic A-rings, expanded/contracted rings etc., so the formula and mass may vary from that given for the generic structure." -MONDO:0019392 "A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." "ICD10:D23.9 SCTID:239121009 Orphanet:840 DOID:5445 EFO:1000558 UMLS:C0406803 NCIT:C4172 GARD:0005100 ICDO:8406/0 MedDRA:10042926" +MONDO:0019392 "A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative." "SCTID:239121009 Orphanet:840 DOID:5445 EFO:1000558 UMLS:C0406803 NCIT:C4172 GARD:0005100 ICDO:8406/0 MedDRA:10042926 ICD10CM:D23.9" MONDO:0005038 http://identifiers.org/hgnc/6296 MONDO:0100129 "A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid." "OMIM:207790" @@ -22449,32 +22435,32 @@ GO:0051181 "OBSOLETE. The directed movement of a cofactor into, out of or within UBERON:0008861 GO:0099004 "Any signal transduction pathway involving calmodulin dependent kinase activity." UBERON:0012354 -MONDO:0007227 "Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic." "OMIM:113450 Orphanet:3168 UMLS:C1862092 MESH:C537338 SCTID:732956000 ICD10:Q74.8 GARD:0004869" -MONDO:0015500 "Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy." "GARD:0012663 ICD10:Q27.3 Orphanet:156230" +MONDO:0007227 "Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic." "OMIM:113450 Orphanet:3168 ICD10CM:Q74.8 UMLS:C1862092 MESH:C537338 SCTID:732956000 GARD:0004869" +MONDO:0015500 "Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy." "GARD:0012663 ICD10CM:Q27.3 Orphanet:156230" http://identifiers.org/hgnc/1395 MONDO:0015980 "UMLS:CN200580 Orphanet:183731" MONDO:0017584 "A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face" "Orphanet:300493 UMLS:CN203388" CL:0009019 "A kidney cortical cell that is part of the nephrogenic zone." -MONDO:0019874 "Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported." "Orphanet:96074 SCTID:763276000 ICD10:Q92.3" +MONDO:0019874 "Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported." "Orphanet:96074 SCTID:763276000" MONDO:0007694 "MESH:C535619 GARD:0008465 OMIM:139630" UBERON:0001309 http://identifiers.org/hgnc/6295 GO:0043020 "A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2." MONDO:0033850 "Orphanet:521411" GO:0070727 "Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell." -MONDO:0011017 "Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma." "Orphanet:34217 MESH:C538346 ICD10:Q87.8 DOID:0080551 UMLS:C1832600 OMIM:601214 GARD:0009795 SCTID:715535009" +MONDO:0011017 "Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma." "ICD10CM:Q87.8 Orphanet:34217 MESH:C538346 DOID:0080551 UMLS:C1832600 OMIM:601214 GARD:0009795 SCTID:715535009" UBERON:0004902 HP:0000309 "An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface." "UMLS:C4021811" http://identifiers.org/hgnc/2330 UBERON:0005000 GO:1903959 "Any process that modulates the frequency, rate or extent of anion transmembrane transport." MONDO:0021483 "A benign neoplasm that involves the frontal sinus." "NCIT:C4420 ICD9:212.0 UMLS:C0345674 SCTID:92115005" -MONDO:0014111 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene." "UMLS:C3809004 ICD10:Q12.0 DOID:0110263 Orphanet:91492 OMIM:615277 Orphanet:98984" +MONDO:0014111 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene." "UMLS:C3809004 DOID:0110263 Orphanet:91492 OMIM:615277 Orphanet:98984" GO:0120189 "Any process that activates or increases the frequency, rate or extent of the controlled release of bile acid from a cell or a tissue." -MONDO:0019450 "Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F." "UMLS:C4274995 Orphanet:86823 SCTID:715817007 ICD10:Q04.3" +MONDO:0019450 "Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F." "UMLS:C4274995 Orphanet:86823 SCTID:715817007 ICD10CM:Q04.3" UBERON:0002507 -MONDO:0007667 "Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma." "UMLS:C0206725 Orphanet:251639 GARD:0010070 MESH:D018315 ICD10:D43.2 EFO:1000553 ONCOTREE:SUBE NCIT:C3795 DOID:4843 EFO:1001197 ICDO:9383/1" -MONDO:0011305 "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene." "UMLS:C1864040 DOID:0060671 Orphanet:221061 OMIM:603285 MESH:C566393 ICD10:Q28.3" +MONDO:0007667 "Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma." "UMLS:C0206725 Orphanet:251639 GARD:0010070 MESH:D018315 EFO:1000553 ONCOTREE:SUBE NCIT:C3795 DOID:4843 EFO:1001197 ICDO:9383/1 ICD10CM:D43.2" +MONDO:0011305 "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene." "UMLS:C1864040 DOID:0060671 OMIM:603285 Orphanet:221061 MESH:C566393" UBERON:0004901 MONDO:0013845 "Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene." "Orphanet:137888 OMIM:614669 UMLS:C3553404" UBERON:0012353 @@ -22488,11 +22474,11 @@ MONDO:0011180 "MESH:C566588 OMIM:602071 UMLS:C1865923" UBERON:0001308 http://identifiers.org/hgnc/6294 GO:1903302 "Any process that modulates the frequency, rate or extent of pyruvate kinase activity." -MONDO:0002275 "Atherosclerosis that is not localized." "SCTID:39823006 UMLS:C0017327 ICD9:440.9 NCIT:C35767 DOID:2347 ICD10:I70.91" +MONDO:0002275 "Atherosclerosis that is not localized." "SCTID:39823006 UMLS:C0017327 ICD9:440.9 NCIT:C35767 DOID:2347 ICD10CM:I70.91" MONDO:0030259 "OMIM:619302" -MONDO:0009282 "A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." "UMLS:C0268596 Orphanet:26791 ICD10:E71.3 GARD:0006523 ICD10:E71.313 DOID:0060358 NCIT:C99102 NCIT:C84907 OMIM:231680" +MONDO:0009282 "A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." "UMLS:C0268596 Orphanet:26791 GARD:0006523 DOID:0060358 NCIT:C99102 NCIT:C84907 OMIM:231680 ICD10CM:E71.3" UBERON:0005001 -MONDO:0011065 "Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter)." "UMLS:C1832408 MESH:C536072 Orphanet:97340 ICD10:Q87.0 OMIM:601379 SCTID:721227001 GARD:0002754" +MONDO:0011065 "Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter)." "ICD10CM:Q87.0 UMLS:C1832408 MESH:C536072 Orphanet:97340 OMIM:601379 SCTID:721227001 GARD:0002754" HP:0030014 "A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity" "UMLS:C1112442" MONDO:0000799 "OBSOLETE. A allergic disease involving a crustacean food product." "DOID:0060524" MONDO:0032651 "OMIM:618278" @@ -22507,9 +22493,9 @@ ENVO:01000951 "An environmental system in which minimal to no anthropisation has UBERON:0000066 "The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage." UBERON:0003704 BFO:0000031 "b is a generically dependent continuant = Def. b is a continuant that g-depends_on one or more other entities. (axiom label in BFO2 Reference: [074-001])"@en -MONDO:0017865 "Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS)." "GARD:0004596 ICD10:Q22.1 OMIM:265500 MedDRA:10037451 Orphanet:3189" -MONDO:0015038 "Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia." "UMLS:CN228904 ICD10:Q04.3 Orphanet:100015" -MONDO:0007696 "GARD:0002593 ICD10:Q87.8 Orphanet:1927 OMIM:139750 UMLS:C1841693 MESH:C535626" +MONDO:0017865 "Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS)." "ICD10CM:Q22.1 GARD:0004596 OMIM:265500 MedDRA:10037451 Orphanet:3189" +MONDO:0015038 "Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia." "UMLS:CN228904 ICD10CM:Q04.3 Orphanet:100015" +MONDO:0007696 "GARD:0002593 ICD10CM:Q87.8 Orphanet:1927 OMIM:139750 UMLS:C1841693 MESH:C535626" MONDO:0700032 "Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism." MONDO:0005501 "A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain." "MESH:C535747 OMIMPS:212066 OMIM:607091 OMIM:613612 OMIM:614576 OMIM:266265 OMIM:606056 OMIM:300896 OMIM:608779 EFO:0005546 OMIM:616828 OMIM:611182 DOID:0050571 OMIM:613489 OMIM:603585 OMIM:616721 OMIM:614727 OMIM:212066 OMIM:616829 OMIM:611209" MONDO:0021351 "A neoplasm (disease) that involves the neck." "UMLS:C0027533 ICD9:239.89 SCTID:126635000 NCIT:C3260" @@ -22522,7 +22508,7 @@ MONDO:0005192 "A carcinoma that arises from epithelial cells of the exocrine pan UBERON:0005002 http://identifiers.org/hgnc/7490 UBERON:0004904 -MONDO:0004937 "ICD10:E67.3 UMLS:C1442839 DOID:9971 ICD9:278.4 SCTID:27712000" +MONDO:0004937 "UMLS:C1442839 ICD10CM:E67.3 DOID:9971 ICD9:278.4 SCTID:27712000" MONDO:0023726 "An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome." "UMLS:C1334683 NCIT:C6443 GARD:0008258" NCBITaxon:1654 "GC_ID:11 PMID:30186281" MONDO:0008897 @@ -22532,14 +22518,14 @@ UBERON:0012351 MONDO:0032654 "OMIM:618282 DOID:0080595" MONDO:0008631 HP:0008053 "Absence or underdevelopment of the iris." "UMLS:C4024748" -MONDO:0015176 "Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen." "ICD10:K52.3 Orphanet:103920" +MONDO:0015176 "Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen." "Orphanet:103920" MONDO:0013509 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene." "UMLS:C3151411 DOID:0070036 OMIM:613970" MONDO:0014134 "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene." "Orphanet:422 OMIM:615342 UMLS:C3888002" http://identifiers.org/hgnc/6293 -MONDO:0015387 "Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females." "Orphanet:141083 ICD10:H04.6" +MONDO:0015387 "Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females." "ICD10CM:H04.6 Orphanet:141083" UBERON:0003707 -MONDO:0012906 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene." "UMLS:C2676235 OMIM:612444 DOID:0110622 MESH:C567310 ICD10:Q34.8" -MONDO:0002265 "Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)" "MESH:D019956 ICD9:307.3 ICD10:F98.4 DOID:2303 SCTID:5507002" +MONDO:0012906 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene." "UMLS:C2676235 OMIM:612444 DOID:0110622 MESH:C567310" +MONDO:0002265 "Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)" "MESH:D019956 ICD9:307.3 DOID:2303 SCTID:5507002" http://identifiers.org/hgnc/18618 GO:0001976 "The regulation of blood pressure mediated by detection of stimuli and a neurological response." http://identifiers.org/hgnc/2597 @@ -22549,7 +22535,7 @@ UBERON:0005269 UBERON:0005003 MONDO:0002539 UBERON:0004905 -MONDO:0013720 "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene." "UMLS:C3280641 DOID:0060298 Orphanet:169147 ICD10:D84.1 OMIM:614379" +MONDO:0013720 "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene." "UMLS:C3280641 DOID:0060298 Orphanet:169147 OMIM:614379" MONDO:0004319 "An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers." "DOID:7651 NCIT:C40439 UMLS:C1518736" MONDO:0004935 "SCTID:35487009 DOID:9969 ICD9:278.3" MONDO:0002538 @@ -22563,22 +22549,22 @@ GO:0051119 "Enables the transfer of a sugar from one side of a membrane to the o UBERON:0003706 MONDO:0008671 "Waardenburg syndrome Type 2 caused by mutations in the MITF gene." "Orphanet:895 NCIT:C75011 Orphanet:3440 DOID:0110950 OMIM:193510 GARD:0005521 MESH:C536464" MONDO:0024363 "ICD9:379.59 SCTID:192004002" -MONDO:0009917 "Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs." "GARD:0004552 Orphanet:756 Orphanet:171876 OMIM:264350 DOID:0060854 UMLS:C0268436 ICD10:N25.8 MESH:D011546" +MONDO:0009917 "Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs." "GARD:0004552 Orphanet:756 Orphanet:171876 OMIM:264350 DOID:0060854 UMLS:C0268436 ICD10CM:N25.8 MESH:D011546" MONDO:0014785 "Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene." "UMLS:C4225195 OMIM:616817" -MONDO:0008460 "Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations." "SCTID:726724005 UMLS:C1866745 Orphanet:2063 OMIM:183300 MESH:C537318 GARD:0004963 ICD10:Q87.8" +MONDO:0008460 "Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations." "SCTID:726724005 UMLS:C1866745 Orphanet:2063 OMIM:183300 ICD10CM:Q87.8 MESH:C537318 GARD:0004963" GO:0046488 "The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol." UBERON:0001305 MONDO:0016923 "SCTID:726341009 Orphanet:262201" MONDO:0013319 "UMLS:C3150857 OMIM:613603" CHEBI:30217 -MONDO:0019682 "Orphanet:93400 ICD10:E77.1" +MONDO:0019682 "Orphanet:93400 ICD10CM:E77.1" MONDO:0017021 "Orphanet:264704 UMLS:CN202334" MONDO:0023165 "MESH:C537064 UMLS:C2931410 GARD:0000130" -MONDO:0008228 "Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells." "ICD9:281.0 NCIT:C2871 MESH:D000752 ICD10:D51.0 EFO:0005576 UMLS:C0002892 Orphanet:120 OMIM:170900 GARD:0012671 DOID:13381 SCTID:84027009" +MONDO:0008228 "Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells." "ICD9:281.0 NCIT:C2871 MESH:D000752 EFO:0005576 UMLS:C0002892 Orphanet:120 OMIM:170900 GARD:0012671 DOID:13381 SCTID:84027009" http://identifiers.org/hgnc/16473 MONDO:0013318 "OMIM:613601 UMLS:C3150852" ENVO:01001346 "An action of exogenic processes (such as water flow or wind) which remove environmental material from one location on the surface of an astronomical body, transporting it to another location where it is deposited." -MONDO:0020407 "ICD10:Q21.2 UMLS:CN207279 Orphanet:99067" +MONDO:0020407 "UMLS:CN207279 ICD10CM:Q21.2 Orphanet:99067" UBERON:0001304 MONDO:0022802 "GARD:0001429" MONDO:0001838 "Acute form of gonococcal prostatitis." "ICD9:098.12 SCTID:111806005 UMLS:C0153192 DOID:13943" @@ -22590,19 +22576,19 @@ MONDO:0018220 MONDO:0036990 "A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion." "UMLS:C0334409 ICDO:8650/0 NCIT:C4212" MONDO:0007265 "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene." "OMIM:115150 UMLS:CN029449 DOID:0111460 UMLS:C1275081 Orphanet:1340" UBERON:0003967 -MONDO:0016647 "A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed." "Orphanet:250984 OMIM:614134 ICD10:Q87.5 UMLS:CN201875 OMIM:614284" +MONDO:0016647 "A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed." "Orphanet:250984 OMIM:614134 ICD10CM:Q87.5 UMLS:CN201875 OMIM:614284" GO:0032350 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving any hormone." http://identifiers.org/hgnc/30650 -MONDO:0016089 "SCTID:238030005 ICD10:E75.2 Orphanet:206436" -MONDO:0019681 "SCTID:111383007 ICD10:E77.1 Orphanet:93399 UMLS:C0268229 UMLS:CN206605" +MONDO:0016089 "ICD10CM:E75.2 SCTID:238030005 Orphanet:206436" +MONDO:0019681 "SCTID:111383007 Orphanet:93399 ICD10CM:E77.1 UMLS:C0268229 UMLS:CN206605" http://identifiers.org/hgnc/12517 MONDO:0017022 "UMLS:CN202335 Orphanet:264709" -MONDO:0009439 "An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin." "NCIT:C132827 Orphanet:281122 ICD10:Q80.2 DOID:0060710 UMLS:C1855789 Orphanet:79394 OMIM:242100 GARD:0009736" +MONDO:0009439 "An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin." "NCIT:C132827 Orphanet:281122 DOID:0060710 UMLS:C1855789 Orphanet:79394 OMIM:242100 GARD:0009736" MONDO:0021091 "A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures." "ICDO:8450/0 MESH:D018292 UMLS:C0010636 NCIT:C2974" -MONDO:0007838 "Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." "OMIM:147791 NCIT:C75457 DOID:0111723 ICD10:Q93.5 UMLS:C0795841 GARD:0000307 SCTID:715438008 Orphanet:2308" +MONDO:0007838 "Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11." "OMIM:147791 NCIT:C75457 DOID:0111723 UMLS:C0795841 ICD10CM:Q93.5 GARD:0000307 SCTID:715438008 Orphanet:2308" CHR:9606-chrXp22.13-p22.2 MONDO:0002531 "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma." "EFO:0004198 NCIT:C3372 UMLS:C0037286 ICD9:239.2 MESH:D012878 ONCOTREE:SKIN DOID:3165 SCTID:126488004" -MONDO:0020408 "ICD10:Q21.2 Orphanet:99068 UMLS:CN207280" +MONDO:0020408 "ICD10CM:Q21.2 Orphanet:99068 UMLS:CN207280" UBERON:0001303 http://identifiers.org/hgnc/20800 GO:0036211 "The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification)." @@ -22614,7 +22600,7 @@ UBERON:0001307 UBERON:0003968 MONDO:0023554 "Testicular failure, the cause of which is not present at birth." "NCIT:C131091 UMLS:C0403818 SCTID:236811002" http://identifiers.org/hgnc/18871 -MONDO:0013453 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene." "OMIM:613835 ICD10:H35.5 UMLS:C3151202 DOID:0110079 GARD:0010881" +MONDO:0013453 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene." "OMIM:613835 UMLS:C3151202 DOID:0110079 GARD:0010881" UBERON:0011154 CL:1000692 "KUPO:0001102" HP:0031691 "An unusually severe viral infection." @@ -22625,27 +22611,28 @@ MONDO:0032650 "OMIM:618276" NCBITaxon:666 "GC_ID:11 PMID:9272984 PMID:1015934" MONDO:0015989 CHEBI:33859 "Any carboxylic acid in which the carboxy group is directly bonded to an aromatic ring." -MONDO:0007293 "Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections." "ICD10:D84.8 NCIT:C4689 DOID:0110910 Orphanet:2968 MESH:C535887 GARD:0006893 UMLS:C0398738 OMIM:116920 SCTID:234582006 Orphanet:99842" +MONDO:0007293 "Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections." "NCIT:C4689 DOID:0110910 Orphanet:2968 MESH:C535887 GARD:0006893 UMLS:C0398738 OMIM:116920 ICD10CM:D84.8 SCTID:234582006 Orphanet:99842" UBERON:0003703 -MONDO:0010248 "X-linked form of spondyloepimetaphyseal dysplasia." "Orphanet:93349 GARD:0004979 OMIM:300106 UMLS:C1848097 ICD10:Q77.7 MESH:C564714" +MONDO:0010248 "X-linked form of spondyloepimetaphyseal dysplasia." "Orphanet:93349 GARD:0004979 OMIM:300106 UMLS:C1848097 ICD10CM:Q77.7 MESH:C564714" UBERON:0004066 MONDO:0014519 "UMLS:C0274294 OMIM:616182" GO:0002284 "The process in which an immature myeloid dendritic cell acquires the specialized features of a mature myeloid dendritic cell as part of an immune response." MONDO:0004414 "A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma." "DOID:7962 UMLS:C1515212 NCIT:C40159" -MONDO:0020409 "Orphanet:99069 ICD10:Q20.4" -MONDO:0004893 "Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye." "SCTID:40608009 DOID:9837 ICD9:378.31 ICD10:H50.2 NCIT:C34716 UMLS:C0020575" +MONDO:0020409 "Orphanet:99069 ICD10CM:Q20.4" +MONDO:0004893 "Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye." "SCTID:40608009 DOID:9837 ICD9:378.31 NCIT:C34716 UMLS:C0020575" CL:0001024 "CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive." "FMA:86475 CALOHA:TS-0448" MONDO:0016920 -MONDO:0016354 "Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS)." "ICD10:Q87.1 Orphanet:220295 OMIM:278760 UMLS:CN201205 ICD10:Q82.1 OMIM:278730 OMIM:278780 OMIM:610651" +MONDO:0016354 "Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS)." "ICD10CM:Q82.1 Orphanet:220295 OMIM:278760 UMLS:CN201205 OMIM:278730 OMIM:278780 OMIM:610651" UBERON:0003701 NCBITaxon:543769 "PMID:30257078 GC_ID:1" -MONDO:0001256 "A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures." "CSP:0571-2717 ICD10:I77.0 UMLS:C0334533 SCTID:233982006 ICDO:9123/0 HP:0100026 MESH:D001165 DOID:11294 NCIT:C2882" -MONDO:0017255 "A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers." "EFO:1001082 GARD:0008577 MESH:D015864 HP:0012121 SCTID:75614007 ICD9:360.12 ICD10:H44.11 Orphanet:280898 ICD10:H44.1 MedDRA:10033687 NCIT:C84989 DOID:12030" +MONDO:0001256 "A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures." "CSP:0571-2717 UMLS:C0334533 SCTID:233982006 ICDO:9123/0 HP:0100026 MESH:D001165 DOID:11294 NCIT:C2882" +MONDO:0017255 "A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers." "EFO:1001082 GARD:0008577 MESH:D015864 ICD10CM:H44.1 HP:0012121 SCTID:75614007 ICD9:360.12 Orphanet:280898 MedDRA:10033687 NCIT:C84989 DOID:12030" NCBITaxon:114292 "GC_ID:11" MONDO:0006153 "A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation." "EFO:1000185 NCIT:C5518 UMLS:C1333090" MONDO:0017020 "Orphanet:264699 UMLS:CN202333" NCBITaxon:104454 "GC_ID:1" MONDO:0002680 "A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions)." "UMLS:C1135993 MESH:D034081 DOID:3530" +MONDO:0019683 MONDO:0008634 "MESH:C566011 OMIM:191950 UMLS:C1860551" CL:0000447 MONDO:0003588 "A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement." "NCIT:C6021 UMLS:C1334372 DOID:5696" @@ -22653,56 +22640,56 @@ MONDO:0003355 "An aggressive malignant smooth muscle neoplasm, arising from the UBERON:0004067 http://identifiers.org/hgnc/23564 CL:0002111 "An CD38-negative unswitched memory B cell is an unswitched memory B cell that has the phenotype CD38-negative, IgD-positive, CD138-negative, and IgG-negative." -MONDO:0005044 "Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more." "MESH:D006973 UMLS:C0020538 ICD9:401-405.99 DOID:10763 HP:0000822 NCIT:C3117 EFO:0000537 ICD9:997.91 SCTID:38341003 ICD10:I15 ICD10:I10 ICD10:I10-I15 OMIM:145500" -MONDO:0001526 "A malignant neoplasm that affects the labia minora." "NCIT:C7637 ICD9:184.2 SCTID:363447008 DOID:1243 UMLS:C0496815 ICD10:C51.1" +MONDO:0005044 "Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more." "MESH:D006973 UMLS:C0020538 ICD9:401-405.99 DOID:10763 HP:0000822 NCIT:C3117 EFO:0000537 ICD10CM:I15 ICD9:997.91 SCTID:38341003 ICD10CM:I10-I16 OMIM:145500" +MONDO:0001526 "A malignant neoplasm that affects the labia minora." "NCIT:C7637 ICD10CM:C51.1 ICD9:184.2 SCTID:363447008 DOID:1243 UMLS:C0496815" MONDO:0026762 "OMIM:301041" UBERON:0004060 -MONDO:0014351 "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene." "DOID:0060278 UMLS:C4014354 ICD10:Q04.3 OMIM:615809 Orphanet:369920" -MONDO:0012204 "An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis." "UMLS:C4273970 Orphanet:90044 SCTID:717254007 OMIM:609153 UMLS:C1836705 ICD10:D58.8 MESH:C563785" -MONDO:0009249 "Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated." "UMLS:C0016751 ICD9:271.2 SCTID:20052008 DOID:9869 OMIM:229600 NCIT:C84720 MedDRA:10019878 Orphanet:469 ICD10:E74.12 ICD10:E74.1 GARD:0006622" +MONDO:0014351 "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene." "DOID:0060278 UMLS:C4014354 OMIM:615809 ICD10CM:Q04.3 Orphanet:369920" +MONDO:0012204 "An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis." "UMLS:C4273970 Orphanet:90044 SCTID:717254007 OMIM:609153 UMLS:C1836705 ICD10CM:D58.8 MESH:C563785" +MONDO:0009249 "Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated." "UMLS:C0016751 ICD9:271.2 SCTID:20052008 ICD10CM:E74.1 DOID:9869 OMIM:229600 NCIT:C84720 MedDRA:10019878 Orphanet:469 GARD:0006622 ICD10CM:E74.12" UBERON:0011156 http://identifiers.org/hgnc/18873 http://identifiers.org/hgnc/9896 -MONDO:0017283 "UMLS:CN202845 Orphanet:284169 OMIM:616708 ICD10:Q83.5" +MONDO:0017283 "UMLS:CN202845 Orphanet:284169 OMIM:616708" UBERON:0035129 MONDO:0003139 "Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure." "NCIT:C35445 UMLS:C0221238 SCTID:35546006 GARD:0009580 DOID:4783" GO:0016042 "The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent." MONDO:0014262 "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." "EFO:1000012 OMIM:615582 GARD:0012356 UMLS:C3810012 DOID:0070236" -MONDO:0004615 "A cancer involving a gingiva of upper jaw." "DOID:8601 ICD10:C03.0 ICD9:143.0 SCTID:363383000 UMLS:C0153365" +MONDO:0004615 "A cancer involving a gingiva of upper jaw." "DOID:8601 ICD9:143.0 SCTID:363383000 UMLS:C0153365" CL:0010020 http://identifiers.org/hgnc/1390 MONDO:0002252 "Hepatitis that is characterized by the presence of granulomas." "UMLS:C0235369 NCIT:C27015 DOID:2239 SCTID:86514004" CHEBI:24129 "Compounds containing at least one furan ring." -MONDO:0017150 "OBSOLETE. Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal." "ICD10:I27.2 EFO:0009193 UMLS:CN202577 Orphanet:275791" +MONDO:0017150 "OBSOLETE. Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal." "EFO:0009193 UMLS:CN202577 Orphanet:275791 ICD10CM:I27.2" MONDO:0021190 "A disease that has its basis in the disruption of DNA repair." "NCIT:C7757 MESH:D049914 EFO:0008499" GO:0048820 "A developmental process, independent of morphogenetic (shape) change, that is required for a hair follicle to attain its fully functional state." UBERON:0001300 NCBITaxon:203492 "GC_ID:11" -MONDO:0016037 "A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern." "EFO:1000556 ICD9:729.99 UMLS:C0406571 Orphanet:199257 ICD10:M72.8 SCTID:238853007 NCIT:C6814" -MONDO:0017223 "The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD." "ICD10:E75.2 Orphanet:280224" +MONDO:0016037 "A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern." "EFO:1000556 ICD9:729.99 UMLS:C0406571 Orphanet:199257 SCTID:238853007 ICD10CM:M72.8 NCIT:C6814" +MONDO:0017223 "The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD." "Orphanet:280224 ICD10CM:E75.2" MONDO:0004000 "A pilocytic astrocytoma that occurs during childhood." "NCIT:C4048 DOID:6812 UMLS:C1332995" -MONDO:0018000 "Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly." "Orphanet:329319 UMLS:CN204208 ICD10:Q87.2" -MONDO:0012684 "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene." "DOID:0110083 UMLS:C1969081 Orphanet:217656 OMIM:611528 ICD10:I42.8 MESH:C566925" +MONDO:0018000 "Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly." "ICD10CM:Q87.2 Orphanet:329319 UMLS:CN204208" +MONDO:0012684 "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene." "DOID:0110083 UMLS:C1969081 Orphanet:217656 OMIM:611528 MESH:C566925" GO:0050864 "Any process that modulates the frequency, rate or extent of B cell activation." -MONDO:0019575 "Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp." "OMIM:146520 OMIM:613981 Orphanet:90368 ICD10:L65.8 SCTID:717256009" -MONDO:0013947 "Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared." "Orphanet:314485 UMLS:C3553989 OMIM:614881 ICD10:G12.2" +MONDO:0019575 "Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp." "OMIM:146520 ICD10CM:L65.8 OMIM:613981 Orphanet:90368 SCTID:717256009" +MONDO:0013947 "Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared." "Orphanet:314485 UMLS:C3553989 ICD10CM:G12.2 OMIM:614881" UBERON:0035128 GO:0140029 "The cellular processes that contribute to exocytosis." -MONDO:0017284 "ICD10:Q99.8 Orphanet:284180 UMLS:CN202846" +MONDO:0017284 "Orphanet:284180 ICD10CM:Q99.8 UMLS:CN202846" CL:0010021 -MONDO:0009520 "3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." "ICD10:E71.1 OMIM:246450 UMLS:C0268601 MESH:C538324 UMLS:C1533587 Orphanet:20 SCTID:410059004 NCIT:C84523 GARD:0008387" +MONDO:0009520 "3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae." "OMIM:246450 UMLS:C0268601 MESH:C538324 UMLS:C1533587 ICD10CM:E71.1 Orphanet:20 SCTID:410059004 NCIT:C84523 GARD:0008387" MONDO:0022805 "GARD:0006137" -MONDO:0013445 "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene." "UMLS:C3151189 OMIM:613825 ICD10:D84.1 Orphanet:169150 DOID:0060303 MESH:C565165" +MONDO:0013445 "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene." "UMLS:C3151189 OMIM:613825 Orphanet:169150 DOID:0060303 MESH:C565165" NCBITaxon:1659 "GC_ID:11 PMID:30186281" UBERON:0004061 MONDO:0003497 "A squamous cell carcinoma that involves the renal pelvis." "DOID:5534 NCIT:C7732 UMLS:C0238409" MONDO:0018482 -MONDO:0014270 "STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3)." "UMLS:C3810062 ICD10:E77.8 OMIM:615596 SCTID:733111000 DOID:0080572 Orphanet:370921" +MONDO:0014270 "STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3)." "UMLS:C3810062 ICD10CM:E77.8 OMIM:615596 SCTID:733111000 DOID:0080572 Orphanet:370921" MONDO:0013358 "Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene." "OMIM:613676 Orphanet:808 DOID:0070010 UMLS:C3888212" -MONDO:0007536 "Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." "SCTID:66987001 ICD10:Q33.8 MedDRA:10010456 NCIT:C98895 GARD:0002104 MESH:C535735 Orphanet:1928 UMLS:C0265797 OMIM:130710" +MONDO:0007536 "Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung." "SCTID:66987001 ICD10CM:Q33.8 MedDRA:10010456 NCIT:C98895 GARD:0002104 MESH:C535735 Orphanet:1928 UMLS:C0265797 OMIM:130710" HP:0010576 "A cystic lesion originating within the brain." "UMLS:C4021250" MONDO:0100018 "A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life." "GARD:0007401" -MONDO:0013355 "Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." "UMLS:C3150926 SCTID:719453009 Orphanet:293825 DOID:0111400 ICD10:D64.4 OMIM:613673" +MONDO:0013355 "Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." "ICD10CM:D64.4 UMLS:C3150926 SCTID:719453009 Orphanet:293825 DOID:0111400 OMIM:613673" MONDO:0017281 "Orphanet:2838 UMLS:CN202834" MONDO:0017269 "X-linked form of inherited ichthyosis syndromic form." "MedDRA:10048063 Orphanet:281210" MONDO:0043975 "A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" "UMLS:C0238015 SCTID:129618003 MESH:D020211 EFO:1001762" @@ -22730,7 +22717,7 @@ UBERON:0004062 CHEBI:75381 "An EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor that interferes with the action of any of the peroxidases (EC 1.11.1.*)." ECTO:0000522 "An exposure to mitochondrial respiratory-chain inhibitor." MONDO:0008639 "OMIM:192300" -MONDO:0020405 "Orphanet:99064 ICD10:Q23.8" +MONDO:0020405 "Orphanet:99064 ICD10CM:Q23.8" MONDO:0026763 "OMIM:301043" CL:0000443 UBERON:0000102 @@ -22740,23 +22727,23 @@ MONDO:0007439 "MESH:C565112 UMLS:C1852200 OMIM:125460" MONDO:0009836 "UMLS:C1850080 OMIM:260480 MESH:C564906" http://identifiers.org/hgnc/7499 NCBITaxon:203491 "GC_ID:11" -MONDO:0011286 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36." "OMIM:603098 MESH:C566410 ICD10:H90.3 UMLS:C1864199 DOID:0110468" +MONDO:0011286 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36." "OMIM:603098 MESH:C566410 UMLS:C1864199 DOID:0110468" http://identifiers.org/hgnc/1391 UBERON:0001301 UBERON:0001567 MONDO:0015130 "An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual." "Orphanet:101963" MONDO:0022803 "GARD:0001439" http://identifiers.org/hgnc/17412 -MONDO:0018480 "ICD10:C15.4 ICD10:C15.2 ICD10:C15.5 ICD10:C15.3 Orphanet:418945 ICD10:C15.8 UMLS:CN237468 ICD10:C15.1 ICD10:C15.0" -MONDO:0020406 "UMLS:CN207278 ICD10:Q21.2 Orphanet:99066" +MONDO:0018480 "Orphanet:418945 UMLS:CN237468" +MONDO:0020406 "UMLS:CN207278 Orphanet:99066 ICD10CM:Q21.2" MONDO:0014774 "OMIM:616792" -MONDO:0020410 "Orphanet:99070 ICD10:Q20.8" +MONDO:0020410 "Orphanet:99070 ICD10CM:Q20.8" MONDO:0006071 "A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported." "DOID:2683 EFO:1000070 MESH:D000232 NCIT:C8984 ICDO:9013/0 UMLS:C0001422" MONDO:0014406 "Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene." "Orphanet:2805 OMIM:615935 UMLS:C4014737" MONDO:0020676 MONDO:0021530 "A benign neoplasm that involves the subglottis." "NCIT:C4427 UMLS:C0345749 SCTID:92412003" -MONDO:0017419 "A congenital malformation characterized by the complete absence of all limbs." "NCIT:C34370 ICD10:Q73.0 HP:0009827 SCTID:62588002 MedDRA:10001926 Orphanet:294925" -MONDO:0014303 "An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1." "Orphanet:401810 UMLS:C3810289 DOID:0110815 UMLS:C4511960 SCTID:726609005 OMIM:615683 ICD10:G11.4" +MONDO:0017419 "A congenital malformation characterized by the complete absence of all limbs." "NCIT:C34370 HP:0009827 SCTID:62588002 MedDRA:10001926 Orphanet:294925" +MONDO:0014303 "An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1." "Orphanet:401810 UMLS:C3810289 DOID:0110815 UMLS:C4511960 ICD10CM:G11.4 SCTID:726609005 OMIM:615683" http://identifiers.org/hgnc/11311 MONDO:0003873 "A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary." "UMLS:C1335183 NCIT:C7279 DOID:6407" http://identifiers.org/hgnc/11577 @@ -22767,11 +22754,11 @@ MONDO:0020974 "A tumor-like nodule or mass of inflammatory granulation tissue pr MONDO:0000398 UBERON:0000365 HP:0002459 -MONDO:0008298 "Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993." "OMIM:176240 UMLS:C1867924 GARD:0004065 Orphanet:2730 MESH:C566767 ICD10:Q73.8" +MONDO:0008298 "Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993." "ICD10CM:Q73.8 OMIM:176240 UMLS:C1867924 GARD:0004065 Orphanet:2730 MESH:C566767" http://identifiers.org/hgnc/12774 MONDO:0006435 "An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma." "EFO:1000554 UMLS:C1336521 NCIT:C5940" MONDO:0004481 "A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma." "DOID:8150 NCIT:C5726 ICDO:8453/3 UMLS:C1518871" -MONDO:0001227 "Chronic form of tympanitis." "SCTID:89723004 UMLS:C0395849 ICD9:384.1 ICD10:H73.1 ICD10:H73.10 DOID:11217" +MONDO:0001227 "Chronic form of tympanitis." "SCTID:89723004 UMLS:C0395849 ICD9:384.1 DOID:11217" http://identifiers.org/hgnc/10379 ECTO:0000516 "An exposure to hormone." MONDO:0010859 "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene." "OMIM:600309 UMLS:C3275750 Orphanet:98722" @@ -22780,23 +22767,23 @@ http://identifiers.org/hgnc/469 MONDO:0027676 "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene." "OMIM:143400 DOID:0080207" MONDO:0002793 MONDO:0000132 -MONDO:0020411 "Orphanet:99071 ICD10:Q20.8" +MONDO:0020411 "Orphanet:99071 ICD10CM:Q20.8" MONDO:0020677 "SCTID:79471008" MONDO:0000298 "A disease caused by infection with Dioctophyme renale." "DOID:0050260 SCTID:40410004 UMLS:C0012482" MONDO:0021193 "A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors." "ONCOTREE:PRNET NCIT:C3787 MESH:D018302" GO:1904100 "Any process that activates or increases the frequency, rate or extent of protein O-linked glycosylation." MONDO:0014112 "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene." "UMLS:C3809005 Orphanet:1340 DOID:0111461 OMIM:615278" -MONDO:0017590 "A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." "ONCOTREE:AMPCA SCTID:254609000 MedDRA:10048853 NCIT:C3908 ICD10:C24.1 EFO:1000079 DOID:4932 UMLS:C0262401 Orphanet:300557" +MONDO:0017590 "A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." "ONCOTREE:AMPCA ICD10CM:C24.1 SCTID:254609000 MedDRA:10048853 NCIT:C3908 EFO:1000079 DOID:4932 UMLS:C0262401 Orphanet:300557" UBERON:0000366 GO:0044089 "Any process that activates or increases the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component." -MONDO:0005835 "An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present." "NCIT:C8494 NCIT:C120083 EFO:0007354 OMIM:614350 ICD10:D48.9 OMIM:613244 OMIM:609310 DOID:3883 Orphanet:144 OMIM:120435 SCTID:716318002 OMIM:614385 MedDRA:10051981 OMIM:614331 OMIM:614337" +MONDO:0005835 "An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present." "NCIT:C8494 ICD10CM:D48.9 NCIT:C120083 EFO:0007354 OMIM:614350 OMIM:613244 OMIM:609310 DOID:3883 Orphanet:144 OMIM:120435 SCTID:716318002 OMIM:614385 MedDRA:10051981 OMIM:614331 OMIM:614337" http://identifiers.org/hgnc/28209 NCBITaxon:2704647 "GC_ID:1" GO:1904062 "Any process that modulates the frequency, rate or extent of cation transmembrane transport." GO:0090087 "Any process that modulates the frequency, rate or extent of the directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." CHEBI:33290 "A physiological role played by any substance of either plant, animal or artificial origin which contains essential body nutrients that can be ingested by an organism to provide energy, promote growth, and maintain the processes of life." -MONDO:0014413 "Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated." "ICD10:Q87.0 SCTID:763837007 OMIM:615948 UMLS:C4014780 Orphanet:434179" -MONDO:0007924 "Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." "ICD10:Q87.8 Orphanet:109 ICD9:759.6 OMIM:153480 SCTID:21984008 NCIT:C3939 DOID:0050657 UMLS:C0265326 GARD:0005887" +MONDO:0014413 "Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated." "SCTID:763837007 OMIM:615948 ICD10CM:Q87.0 UMLS:C4014780 Orphanet:434179" +MONDO:0007924 "Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." "Orphanet:109 ICD9:759.6 OMIM:153480 SCTID:21984008 NCIT:C3939 DOID:0050657 ICD10CM:Q87.8 UMLS:C0265326 GARD:0005887" MONDO:0019689 "UMLS:CN227675 Orphanet:93424" MONDO:0023170 "GARD:0002350" http://identifiers.org/hgnc/12775 @@ -22811,19 +22798,19 @@ MONDO:0000131 MONDO:0012113 "OMIM:608762 DOID:0111318" HP:0012369 "An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla." "UMLS:C4022926" MONDO:0044704 "A squamous cell carcinoma that involves the oropharynx." "NCIT:C8181 Orphanet:500478 ONCOTREE:OPHSC" -MONDO:0014510 "UMLS:C4015344 OMIM:616154 Orphanet:438178 ICD10:E71.3" -MONDO:0014776 "EFO:0009059 ICD10:G11.8 DOID:0111742 OMIM:616795 NCIT:C171269 UMLS:C4225205 Orphanet:458803" +MONDO:0014510 "UMLS:C4015344 ICD10CM:E71.3 OMIM:616154 Orphanet:438178" +MONDO:0014776 "EFO:0009059 ICD10CM:G11.8 DOID:0111742 OMIM:616795 NCIT:C171269 UMLS:C4225205 Orphanet:458803" HP:0001924 "Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining)." "SNOMEDCT_US:41841004 UMLS:C0002896 MSH:D000756" MONDO:0010819 "MESH:C535805 OMIM:600110 Orphanet:827 UMLS:C1838644" -MONDO:0019574 "Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions." "SCTID:717255008 ICD10:I89.0 Orphanet:90363 UMLS:C4273969" +MONDO:0019574 "Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions." "SCTID:717255008 ICD10CM:I89.0 Orphanet:90363 UMLS:C4273969" HP:0010301 "A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life." "SNOMEDCT_US:253098009 MSH:D009436 UMLS:C0027794" MONDO:0013409 "Any age-related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene." "UMLS:C3151063 DOID:0110028 OMIM:613761" MONDO:0009829 "MESH:C564910 OMIM:260200 UMLS:C1850101" HP:0006000 "Obstruction of the flow of urine through the ureter." "SNOMEDCT_US:20018005 MSH:D014517 Fyler:4492 UMLS:C0041956" -MONDO:0006834 "A primary or metastatic malignant neoplasm involving the lip." "NCIT:C7485 ICD9:140.5 MedDRA:10007089 ICD10:C00 ICD10:C00.9 SCTID:187622006 ICD9:140 MESH:D008048 ICD9:140.8 EFO:1001019 DOID:8564 ICD9:140.6" +MONDO:0006834 "A primary or metastatic malignant neoplasm involving the lip." "ICD10CM:C00 NCIT:C7485 ICD9:140.5 MedDRA:10007089 SCTID:187622006 ICD9:140 MESH:D008048 ICD9:140.8 EFO:1001019 DOID:8564 ICD9:140.6" PATO:0001993 "A cellularity quality inhering in a bearer by virtue of the bearer's consisting of more than one cell." GO:0045582 "Any process that activates or increases the frequency, rate or extent of T cell differentiation." -MONDO:0019802 "Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility." "Orphanet:95427 ICD10:K91.2 UMLS:CN206757" +MONDO:0019802 "Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility." "Orphanet:95427 UMLS:CN206757 ICD10CM:K91.2" MONDO:0000668 "An agnosia that is a loss of the ability to orient parts of the body." "DOID:0060138" GO:0006873 "Any process involved in the maintenance of an internal steady state of ions at the level of a cell." MONDO:0017027 "UMLS:CN202339 Orphanet:264740" @@ -22831,13 +22818,13 @@ http://identifiers.org/hgnc/467 MONDO:0002975 "A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare." "SCTID:188050009 DOID:4364 NCIT:C8410 UMLS:C0346787" CL:0002570 "A mesenchymal stem cell of adipose tissue." MONDO:0044648 "Orphanet:496689" -MONDO:0001710 "A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes." "ICD9:576.3 UMLS:C0156218 ICD10:K83.2 DOID:13409 SCTID:37439003 NCIT:C78528" +MONDO:0001710 "A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes." "ICD9:576.3 UMLS:C0156218 DOID:13409 SCTID:37439003 NCIT:C78528 ICD10CM:K83.2" MONDO:0000130 MONDO:0012114 "MESH:C536199 OMIM:608763 UMLS:C1837462" UBERON:0036328 GO:0007142 "A cell cycle process comprising the steps by which a cell progresses through male meiosis II, the second meiotic division in the male germline." CHEBI:29214 -MONDO:0012961 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27." "MESH:C567233 ICD10:E10 UMLS:C2675472 OMIM:612622 DOID:0110760" +MONDO:0012961 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27." "MESH:C567233 UMLS:C2675472 OMIM:612622 DOID:0110760" MONDO:0100110 MONDO:0031012 "An autoimmune form of uveitis (disease)." "DOID:0040088" MONDO:0044646 "UMLS:C4310671 Orphanet:496641 OMIM:617193" @@ -22845,43 +22832,43 @@ GO:0097659 "The cellular synthesis of RNA on a template of nucleic acid (DNA or MONDO:0009828 "UMLS:C1850102 MESH:C538102 OMIM:260150 GARD:0004198" GO:0002381 "The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels." GO:0019400 "The chemical reactions and pathways involving alditols, any polyhydric alcohol derived from the acyclic form of a monosaccharide by reduction of its aldehyde or keto group to an alcoholic group." -MONDO:0013579 "OMIM:614105 UMLS:C3279840 ICD10:E71.1 MESH:C566402 Orphanet:289307" -MONDO:0015273 "Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow." "ICD9:745.69 SCTID:360481003 ICD10:Q21.2 MESH:C535974 GARD:0001454 Orphanet:1329" -MONDO:0013313 "OMIM:613576 Orphanet:247827 UMLS:C3150809 ICD10:Q82.8" +MONDO:0013579 "ICD10CM:E71.1 OMIM:614105 UMLS:C3279840 MESH:C566402 Orphanet:289307" +MONDO:0015273 "Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow." "ICD9:745.69 SCTID:360481003 ICD10CM:Q21.2 MESH:C535974 GARD:0001454 Orphanet:1329" +MONDO:0013313 "OMIM:613576 UMLS:C3150809 Orphanet:247827 ICD10CM:Q82.8" NCBITaxon:64279 "GC_ID:1" -MONDO:0007012 "A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy." "ICD9:046.11 NCIT:C128438 Orphanet:576370 EFO:1001233 MedDRA:10064199 UMLS:C0085209 SCTID:304603007 MESH:D016643 ICD10:A81.01 GARD:0009550 NCIT:C26802 DOID:5435" +MONDO:0007012 "A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy." "ICD9:046.11 NCIT:C128438 Orphanet:576370 EFO:1001233 MedDRA:10064199 UMLS:C0085209 SCTID:304603007 MESH:D016643 ICD10CM:A81.01 GARD:0009550 NCIT:C26802 DOID:5435" MONDO:0001627 "Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders." "MESH:D003704 DOID:1307 NCIT:C4786 ICD9:294.1 ICD9:294.8 SCTID:52448006 ICD9:290.8 GARD:0011946" MONDO:0019425 MONDO:0017028 "Orphanet:264745 UMLS:CN202340" MONDO:0016929 "SCTID:726347008 Orphanet:262638 MESH:C537941" HP:0004921 "An abnormality of magnesium ion homeostasis." "UMLS:C4025274 UMLS:C4020826" -MONDO:0008473 "A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." "Orphanet:263482 ICD10:Q77.7 OMIM:184095 SCTID:719204007 GARD:0000994 UMLS:CN202294 DOID:0111553" +MONDO:0008473 "A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." "Orphanet:263482 OMIM:184095 SCTID:719204007 GARD:0000994 UMLS:CN202294 DOID:0111553 ICD10CM:Q77.7" MONDO:0044647 "Orphanet:496686 OMIM:617114" GO:2000725 "Any process that modulates the frequency, rate or extent of cardiac muscle cell differentiation." MONDO:0012115 "OMIM:608765" -MONDO:0020414 "Orphanet:99076 ICD10:Q25.4" +MONDO:0020414 "Orphanet:99076 ICD10CM:Q25.4" GO:0019693 "The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar." MONDO:0000394 -MONDO:0014361 "Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures." "DOID:0070056 ICD10:F84.1 UMLS:C4014435 OMIM:615834 Orphanet:352490" +MONDO:0014361 "Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures." "DOID:0070056 UMLS:C4014435 OMIM:615834 Orphanet:352490" UBERON:0000361 MONDO:0004495 "A cataract occurring as a sequela of myotonic dystrophy." "ICD9:359.29 SCTID:64741003 UMLS:C0027128 DOID:82 NCIT:C34833 ICD9:366.43" MONDO:0014778 "UMLS:C4225202 Orphanet:530983 OMIM:616803" MONDO:0044645 "Orphanet:495930" -MONDO:0011628 "Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." "Orphanet:35 MESH:D056693 UMLS:C0268579 NCIT:C85030 SCTID:69080001 ICD10:E71.121 OMIM:606054 ICD10:E71.1 GARD:0000467 DOID:14701" -MONDO:0018205 "1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." "ICD10:Q93.5 OMIM:612337 SCTID:717633007 UMLS:C4273897 Orphanet:36367" +MONDO:0011628 "Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy." "GARD:0000467 ICD10CM:E71.1 SCTID:69080001 NCIT:C85030 OMIM:606054 MESH:D056693 ICD10CM:E71.121 DOID:14701 Orphanet:35 UMLS:C0268579" +MONDO:0018205 "1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." "ICD10CM:Q93.5 OMIM:612337 SCTID:717633007 UMLS:C4273897 Orphanet:36367" http://identifiers.org/hgnc/14074 ENVO:00000015 "A marine water body which is constitutes the majority of an astronomical body's hydrosphere." -MONDO:0001592 "DOID:1284 ICD9:618.8 UMLS:C0156349 ICD9:618.89 ICD10:N81 SCTID:73998008" +MONDO:0001592 "DOID:1284 ICD9:618.8 UMLS:C0156349 ICD9:618.89 ICD10CM:N81 SCTID:73998008" GO:1905706 "Any process that modulates the frequency, rate or extent of mitochondrial ATP synthesis coupled proton transport." NCBITaxon:1913638 "PMID:27738200 GC_ID:1" MONDO:0019686 BFO:0000030 http://identifiers.org/hgnc/465 MONDO:0016928 "Orphanet:262633 SCTID:726346004" -MONDO:0008226 "A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people." "MESH:D010520 OMIM:608526 UMLS:C0031106 ICD10:K05.2 OMIM:170650 DOID:1474 EFO:0006342 ICD9:523.5" +MONDO:0008226 "A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people." "MESH:D010520 OMIM:608526 UMLS:C0031106 OMIM:170650 DOID:1474 EFO:0006342 ICD9:523.5" GO:0060097 "The assembly, arrangement, or disassembly of cytoskeletal structures that is involved in the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis." MONDO:0003090 "A carcinoma that arises from epithelial cells of the extrahepatic bile duct." "UMLS:C0238019 SCTID:372101000 NCIT:C3860 DOID:4682" -MONDO:0016312 "5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men." "ICD10:T45.1 MESH:C531667 Orphanet:217064 UMLS:CN201128" +MONDO:0016312 "5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men." "MESH:C531667 ICD10CM:T45.1 Orphanet:217064 UMLS:CN201128" MONDO:0016926 MONDO:0016250 "OBSOLETE. Any of the forms of breast adenocarcinoma that have a rare incidence." "Orphanet:213528 GARD:0012773" MONDO:0044644 "Orphanet:495879" @@ -22898,29 +22885,29 @@ MONDO:0004065 "Choroid melanoma characterized by the presence of intermediate ce http://identifiers.org/hgnc/464 MONDO:0016927 "Orphanet:262628 SCTID:726345000" MONDO:0005367 "Physical and psychological dependence on the drug heroin." "DOID:9976 EFO:0004240 UMLS:CN236651 MESH:D006556 SCTID:231477003 NCIT:C34694" -MONDO:0004784 "A asthma with a basis in a pathological type I hypersensitivity reaction." "UMLS:C0155877 DOID:9415 ICD10:J45 ICD9:493.0 SCTID:389145006" -MONDO:0019338 "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs." "ICD10:D86.8 MedDRA:10039486 ICD10:D80-D89 OMIM:612387 UMLS:C0036202 ICD9:135 DOID:11335 OMIM:181000 ICD10:D86.2 ICD10:D86.9 MESH:D012507 OMIM:612388 ICD10:D86.0 SCTID:31541009 ICD10:D86 Orphanet:797 NCIT:C34995 ICD10:D86.3 ICD10:D86.1" +MONDO:0004784 "A asthma with a basis in a pathological type I hypersensitivity reaction." "UMLS:C0155877 DOID:9415 ICD9:493.0 ICD10CM:J45 SCTID:389145006" +MONDO:0019338 "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs." "ICD10CM:D86.9 MedDRA:10039486 ICD10CM:D86.0 OMIM:612387 UMLS:C0036202 ICD9:135 DOID:11335 OMIM:181000 ICD10CM:D86.1 ICD10CM:D86.2 MESH:D012507 OMIM:612388 SCTID:31541009 ICD10CM:D86.8 ICD10CM:D86.3 Orphanet:797 NCIT:C34995" GO:0006558 "The chemical reactions and pathways involving L-phenylalanine, the L-enantiomer of 2-amino-3-phenylpropanoic acid, i.e. (2S)-2-amino-3-phenylpropanoic acid." MONDO:0020674 "SCTID:86341008" MONDO:0006857 "Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." "MESH:D020244 UMLS:C0740392 DOID:3525 EFO:1001045" -MONDO:0018487 "ICD10:D70 Orphanet:420699" +MONDO:0018487 "Orphanet:420699 ICD10CM:D70" MONDO:0000392 MONDO:0016925 "Orphanet:262211" MONDO:0044643 "Orphanet:495875" GO:0002712 "Any process that modulates the frequency, rate, or extent of B cell mediated immunity." -MONDO:0015728 "MESH:C538036 Orphanet:1707 ICD10:Q92.3" -MONDO:0008767 "A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "Orphanet:79264 ICD10:E75.4 OMIM:204200 NCIT:C61258 Orphanet:228346 GARD:0005897 DOID:0110731" +MONDO:0015728 "MESH:C538036 Orphanet:1707" +MONDO:0008767 "A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "Orphanet:79264 OMIM:204200 NCIT:C61258 Orphanet:228346 GARD:0005897 ICD10CM:E75.4 DOID:0110731" UBERON:0001560 -MONDO:0020468 "Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." "ICD10:Q99.8 Orphanet:99324" +MONDO:0020468 "Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." "ICD10CM:Q99.8 Orphanet:99324" MONDO:0017023 "Orphanet:264714 UMLS:CN202336" -MONDO:0009180 "Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." "Orphanet:79405 UMLS:C0079301 UMLS:C2673610 Orphanet:89840 ICD10:Q81.8 SCTID:33662006 GARD:0002151 Orphanet:251393 ICD9:757.39 UMLS:C2673609 OMIM:226650 Orphanet:79402" +MONDO:0009180 "Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." "Orphanet:79405 UMLS:C0079301 UMLS:C2673610 Orphanet:89840 SCTID:33662006 GARD:0002151 Orphanet:251393 ICD9:757.39 UMLS:C2673609 ICD10CM:Q81.8 OMIM:226650 Orphanet:79402" MONDO:0017289 "Orphanet:284362 UMLS:CN202863" MONDO:0019688 "Orphanet:93423 UMLS:CN227674" NCBITaxon:688353 "GC_ID:1" -MONDO:0019976 "Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma." "SCTID:230283005 UMLS:CN206907 MESH:D020208 Orphanet:97353 ICD10:F01.8" +MONDO:0019976 "Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma." "SCTID:230283005 UMLS:CN206907 MESH:D020208 Orphanet:97353" MONDO:0007005 "Inflammation of the rectum and the distal portion of the colon." "SCTID:52506002 ICD9:556.3 EFO:1001223" GO:0019229 "Any process that modulates the frequency, rate or extent of reductions in the diameter of blood vessels." -MONDO:0018222 "OMIM:300699 Orphanet:364028 ICD10:F72" +MONDO:0018222 "OMIM:300699 Orphanet:364028 ICD10CM:F72" MONDO:0009814 "Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992." "GARD:0000354 SCTID:732954002 UMLS:C1850140 Orphanet:2324 OMIM:259690 MESH:C537706" GO:0150063 "The process whose specific outcome is the progression of the visual system over time, from its formation to the mature structure, including the eye, parts of the central nervous system (CNS) involved in processing of visual inputs, and connecting nerve pathways." MONDO:0044642 "Orphanet:495844" @@ -22930,31 +22917,31 @@ MONDO:0000391 MONDO:0018488 "UMLS:CN237489 Orphanet:420755" MONDO:0016924 "SCTID:726342002 Orphanet:262206" http://identifiers.org/hgnc/16472 -MONDO:0011004 "This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence." "SCTID:718720007 OMIM:601160 ICD10:Q04.3 MESH:C563383 UMLS:C1832678 Orphanet:86822" +MONDO:0011004 "This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence." "SCTID:718720007 OMIM:601160 MESH:C563383 UMLS:C1832678 ICD10CM:Q04.3 Orphanet:86822" GO:0045988 "Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle contraction." MONDO:0023161 "Myocarditis that is caused by an infection with a viral agent." "UMLS:C0276138 SCTID:89141000 NCIT:C128381" MONDO:0017024 "Orphanet:264719 UMLS:CN202337" MONDO:0022901 "An Crohn disease involving a pathogenic inflammatory response in the esophagus." "UMLS:C0341116 GARD:0000203" -MONDO:0015726 "UMLS:CN036934 Orphanet:1705 ICD10:Q92.3 MESH:C538034" +MONDO:0015726 "UMLS:CN036934 Orphanet:1705 MESH:C538034" MONDO:0019687 MONDO:0000425 "X-linked form of disease." "SCTID:128430005 MESH:D040181 DOID:0050735 UMLS:C2828000 NCIT:C85865 UMLS:C1138434 ICD9:799.89" MONDO:0012119 "UMLS:C1837434 OMIM:608781" MONDO:0003479 "A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects." "ICD9:506.9 DOID:551 UMLS:C3714582 SCTID:233733000" -MONDO:0006604 "A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids." "UMLS:C0035854 ICD10:L71 ICD9:695.3 MESH:D012393 DOID:8881 Wikipedia:Rosacea NCIT:C97136 ICD10:L71.9 EFO:1000760 SCTID:398909004" +MONDO:0006604 "A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids." "UMLS:C0035854 ICD10CM:L71 ICD9:695.3 MESH:D012393 DOID:8881 Wikipedia:Rosacea NCIT:C97136 EFO:1000760 SCTID:398909004" GO:0048640 "Any process that stops, prevents, or reduces the frequency, rate or extent of developmental growth." MONDO:0044641 "Orphanet:495818" -MONDO:0010829 "CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." "MESH:C563990 UMLS:C1838577 ICD10:F01.1 Orphanet:199354 SCTID:703219008 DOID:13945 GARD:0010424 OMIM:600142" +MONDO:0010829 "CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." "MESH:C563990 UMLS:C1838577 Orphanet:199354 SCTID:703219008 DOID:13945 GARD:0010424 ICD10CM:F01.1 OMIM:600142" MONDO:0005871 "Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans." "SCTID:84706005 MESH:D009349 UMLS:C0027583 EFO:0007391" MONDO:0005659 "A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena)." "MESH:D012222 EFO:0007159 DOID:4731 SCTID:69646003 UMLS:C0035459 UMLS:C0030105" http://identifiers.org/hgnc/2334 -MONDO:0001338 "ICD10:K04.4 SCTID:718053009 UMLS:C4084770 DOID:11693 ICD9:522.4" +MONDO:0001338 "SCTID:718053009 UMLS:C4084770 DOID:11693 ICD9:522.4 ICD10CM:K04.4" OBA:VT0010454 "The quality when measured in multicellular organism." MONDO:0014364 "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene." "DOID:0080117 Orphanet:1460 UMLS:C4014440 OMIM:615838" GO:1902721 "Any process that stops, prevents or reduces the frequency, rate or extent of prolactin secretion." MONDO:0013920 "Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TRAF3 gene." "Orphanet:1930 OMIM:614849" MONDO:0006492 MONDO:0006577 "A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment." "UMLS:C1334644 NCIT:C35868 DOID:867 EFO:1000731" -MONDO:0009441 "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene." "Orphanet:313 ICD10:Q80.2 UMLS:C3536797 DOID:0060656 GARD:0003170 Orphanet:281122 OMIM:242300 Orphanet:100976 MESH:D017490" +MONDO:0009441 "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene." "Orphanet:313 UMLS:C3536797 DOID:0060656 GARD:0003170 Orphanet:281122 OMIM:242300 Orphanet:100976 MESH:D017490" BFO:0000034 MONDO:0004097 MONDO:0021487 "A benign neoplasm that involves the optic choroid." "NCIT:C3625 SCTID:92059004 UMLS:C0154028 ICD9:224.6" @@ -22964,18 +22951,18 @@ http://identifiers.org/hgnc/461 MONDO:0004930 "ICD9:365.89 SCTID:1654001 DOID:9946 ICD9:365.3 UMLS:C0339578" http://identifiers.org/hgnc/3531 MONDO:0006921 "Infections with bacteria of the order actinomycetales." "NCIT:C84534 ICD9:039.9 MESH:D000193 ICD9:039.8 SCTID:11817007 EFO:1001122 UMLS:C0001255 SCTID:721751007" -MONDO:0000910 "A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2." "OMIM:312612 GARD:0010377 DOID:0110413 MESH:C564065 UMLS:C1839368 ICD10:H35.5" +MONDO:0000910 "A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2." "OMIM:312612 GARD:0010377 DOID:0110413 MESH:C564065 UMLS:C1839368" GO:0030003 "Any process involved in the maintenance of an internal steady state of cations at the level of a cell." -MONDO:0019606 "Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C." "ICD10:D89.1 Orphanet:91139 UMLS:CN206459 UMLS:C4510006 SCTID:723674005" +MONDO:0019606 "Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C." "ICD10CM:D89.1 Orphanet:91139 UMLS:CN206459 UMLS:C4510006 SCTID:723674005" MONDO:0005701 "An infection that is caused by Chlamydia trachomatis." "ICD9:079.88 NCIT:C34463 ICD9:078.88 DOID:11263 SCTID:105629000 EFO:0007205 ICD9:079.98" HP:0002157 "An increased concentration of nitrogen compounds in the blood." "SNOMEDCT_US:445009001 UMLS:C0242528 MSH:D053099" UBERON:0008858 MONDO:0019227 "An acquired metabolic disease that is has its basis in the disruption of glycerol metabolic process." "Orphanet:79179" MONDO:0020753 "Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19." "DOID:0080599" -MONDO:0015230 "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992." "SCTID:720495005 UMLS:CN197570 ICD10:Q87.8 Orphanet:1101 GARD:0000717" +MONDO:0015230 "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992." "ICD10CM:Q87.8 SCTID:720495005 UMLS:CN197570 Orphanet:1101 GARD:0000717" MONDO:0044640 "Orphanet:495274 OMIM:617017 UMLS:CN237675" -MONDO:0013892 "Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease." "UMLS:C4055342 Orphanet:329918 UMLS:CN187045 Orphanet:329931 NCIT:C123043 ICD10:N00.5 Orphanet:54370 UMLS:C3553720 OMIM:614809" -MONDO:0001337 "DOID:11685 UMLS:C0376117 ICD9:702.11 SCTID:442348004 ICD10:L82.0" +MONDO:0013892 "Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease." "ICD10CM:N00.5 UMLS:C4055342 Orphanet:329918 UMLS:CN187045 Orphanet:329931 NCIT:C123043 Orphanet:54370 UMLS:C3553720 OMIM:614809" +MONDO:0001337 "DOID:11685 UMLS:C0376117 ICD9:702.11 ICD10CM:L82.0 SCTID:442348004" MONDO:0011172 "OMIM:601976 MESH:C566597 UMLS:C1865988" MONDO:0003333 "A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues." "UMLS:C1511104 DOID:5209 NCIT:C40012" MONDO:0005438 "The spread of a malignant neoplasm to the lymph nodes." "EFO:0004906 UMLS:C0686619 NCIT:C4904" @@ -22987,8 +22974,8 @@ MONDO:0013557 "Any Hermansky-Pudlak syndrome in which the cause of the disease i MONDO:0003887 "A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma." "DOID:6469 UMLS:C1518723 NCIT:C40040" MONDO:0000139 CHEBI:76764 "Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*)." -MONDO:0008694 "Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers." "SCTID:733086003 ICD10:Q87.8 OMIM:200130 MESH:C563111 UMLS:C0796125 Orphanet:2985 GARD:0000415" -MONDO:0008708 "Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." "OMIM:200990 SCTID:715951007 MESH:D055673 Orphanet:36 NCIT:C84531 GARD:0005721 UMLS:C0796147 ICD10:Q04.0 DOID:9250" +MONDO:0008694 "Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers." "SCTID:733086003 ICD10CM:Q87.8 OMIM:200130 MESH:C563111 UMLS:C0796125 Orphanet:2985 GARD:0000415" +MONDO:0008708 "Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." "OMIM:200990 SCTID:715951007 ICD10CM:Q04.0 MESH:D055673 UMLS:C0796147 NCIT:C84531 DOID:9250 Orphanet:36 GARD:0005721" PATO:0002181 "A positional quality inhering in a bearer by virtue the bearer's being changed in position." MONDO:0021156 "Inflammation of the pituitary gland." "UMLS:C0342409 NCIT:C12399 SCTID:237705001 MESH:D000072659" UBERON:0008859 @@ -23015,7 +23002,7 @@ http://identifiers.org/hgnc/26901 ENVO:00000000 http://identifiers.org/hgnc/3534 MONDO:0006495 -MONDO:0005113 "An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections." "ICD10:A49 MESH:D016908 ICD9:041.89 ICD9:040.89 UMLS:C0004623 DOID:104 EFO:0000771 NCIT:C2890 MESH:D016905 ICD9:041.9 ICD10:A49.9 SCTID:87628006 MESH:D001424" +MONDO:0005113 "An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections." "MESH:D016908 ICD9:041.89 ICD9:040.89 UMLS:C0004623 DOID:104 EFO:0000771 NCIT:C2890 MESH:D016905 ICD9:041.9 ICD10CM:A30-A49 SCTID:87628006 MESH:D001424" MONDO:0012373 "OMIM:609944 GARD:0009939 MESH:C536182 UMLS:C1864966" MONDO:0000137 "OMIMPS:604004" MONDO:0013539 "Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." "MESH:C565439 UMLS:C3279662 Orphanet:79507 OMIM:614037 SCTID:717185008" @@ -23023,38 +23010,38 @@ MONDO:0005040 "A benign or malignant, gonadal or extragonadal neoplasm that orig MONDO:0004931 "ICD9:365.32 DOID:9948 SCTID:193549003 UMLS:C0339580" GO:0035898 "The regulated release of parathyroid hormone into the circulatory system." MONDO:0002483 "A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma." "DOID:3004 NCIT:C40389 UMLS:C1511319" -MONDO:0013572 "UMLS:C3279800 Orphanet:435628 ICD10:E88.1 OMIM:614098" +MONDO:0013572 "ICD10CM:E88.1 UMLS:C3279800 Orphanet:435628 OMIM:614098" MONDO:0010813 "MESH:C538111 UMLS:C1838655 OMIM:600089 Orphanet:28455" GO:0032592 "The component of the mitochondrial membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane." MONDO:0032649 "DOID:0080582 OMIM:618275" MONDO:0001848 "A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag." "SCTID:264443002 ICD9:366.18 DOID:13964 UMLS:C0152258" -MONDO:0010847 "Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy." "ICD10:G11.2 OMIM:600223 SCTID:715755008 GARD:0009970 Orphanet:98765 DOID:0050957 UMLS:C0752122" +MONDO:0010847 "Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy." "OMIM:600223 SCTID:715755008 GARD:0009970 ICD10CM:G11.2 Orphanet:98765 DOID:0050957 UMLS:C0752122" http://identifiers.org/hgnc/11573 NCBITaxon:204429 "PMID:26179278 GC_ID:11" GO:0005496 "Binding to a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene." MONDO:0012374 "OMIM:609945 MESH:C537100 UMLS:C1864965 GARD:0009893" MONDO:0001606 "Leukemia infiltrating the central nervous system structures." "UMLS:C1332884 DOID:12969 NCIT:C5440" http://identifiers.org/hgnc/3535 -MONDO:0010786 "Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994." "ICD10:K59.1 UMLS:C1838912 OMIM:520100 Orphanet:1670 MESH:C564019" +MONDO:0010786 "Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994." "UMLS:C1838912 OMIM:520100 Orphanet:1670 ICD10CM:K59.1 MESH:C564019" MONDO:0021321 "A cancer that involves the extrahepatic bile duct." "SCTID:363416002 ICD9:156.1 ICD9:156.8 UMLS:C0153453 NCIT:C7483" MONDO:0000686 "Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)" "MESH:D020237 DOID:0060156" -MONDO:0018069 "Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated." "Orphanet:3379 ICD10:Q92.3 SCTID:766051001" -MONDO:0008458 "Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." "NCIT:C148315 Orphanet:98756 DOID:0050955 GARD:0004072 SCTID:715751004 OMIM:183090 ICD10:G11.2 UMLS:C0752121" -MONDO:0007158 "Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." "ICD10:Q68.8 Orphanet:1154 UMLS:C1862472 UMLS:C1834523 OMIM:108145 GARD:0004047 SCTID:715217004" +MONDO:0018069 "Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated." "Orphanet:3379 SCTID:766051001" +MONDO:0008458 "Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." "NCIT:C148315 Orphanet:98756 DOID:0050955 GARD:0004072 SCTID:715751004 OMIM:183090 UMLS:C0752121 ICD10CM:G11.2" +MONDO:0007158 "Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." "Orphanet:1154 UMLS:C1862472 UMLS:C1834523 ICD10CM:Q68.8 OMIM:108145 GARD:0004047 SCTID:715217004" CL:0000613 "A progenitor cell committed to the basophil lineage. This cell lacks hematopoietic lineage markers (lin-negative) and is CD34-positive, T1/ST2-low, CD117-negative, and FceRIa-high. This cell also expresses Gata-1, Gata-2 and C/EBPa." MONDO:0001333 -MONDO:0001316 "An infectious meningitis caused by infection with Streptococcus." "SCTID:4510004 ICD10:G00.2 DOID:11574 ICD9:320.2 UMLS:C0154639" +MONDO:0001316 "An infectious meningitis caused by infection with Streptococcus." "SCTID:4510004 DOID:11574 ICD9:320.2 ICD10CM:G00.2 UMLS:C0154639" MONDO:0010812 "OMIM:600084 MESH:C564004 UMLS:C1838656" MONDO:0001599 MONDO:0032648 "DOID:0111403 OMIM:618273" -MONDO:0008974 "A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable." "GARD:0008754 ICD10:Q77.3 DOID:0111588 SCTID:389261002 UMLS:CN199524 Orphanet:1426 OMIM:215140 UMLS:C2931048 MESH:C535858" -MONDO:0007092 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene." "MESH:C562879 ICD10:K00.5 Orphanet:100031 ICD9:520.5 DOID:0110052 SCTID:234961008 OMIM:104500 UMLS:C0399368" +MONDO:0008974 "A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable." "GARD:0008754 DOID:0111588 SCTID:389261002 UMLS:CN199524 Orphanet:1426 ICD10CM:Q77.3 OMIM:215140 UMLS:C2931048 MESH:C535858" +MONDO:0007092 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene." "MESH:C562879 Orphanet:100031 ICD9:520.5 DOID:0110052 SCTID:234961008 OMIM:104500 UMLS:C0399368" MONDO:0021485 "A benign neoplasm that involves the iris." "SCTID:189151003 NCIT:C4555 UMLS:C0346374 ICD9:224.0" -MONDO:0017054 "Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine." "OMIM:248600 ICD10:E71.0 Orphanet:268184" -MONDO:0000951 "A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma." "NCIT:C6451 UMLS:C1336745 DOID:10146 EFO:1000054" +MONDO:0017054 "Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine." "OMIM:248600 Orphanet:268184 ICD10CM:E71.0" +MONDO:0000951 "A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma." "NCIT:C6451 DOID:10146 UMLS:C1336745 EFO:1000054" MONDO:0000135 MONDO:0014360 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene." "DOID:0080443 UMLS:C4014430 OMIM:615833" -MONDO:0006570 "A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." "ICD9:697 EFO:1000724 ICD9:697.9 ICD10:L28.0 SCTID:88996004 ICD9:697.8 UMLS:C0023643 DOID:8574" +MONDO:0006570 "A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin." "ICD9:697 EFO:1000724 ICD9:697.9 SCTID:88996004 ICD9:697.8 UMLS:C0023643 DOID:8574" http://identifiers.org/hgnc/29666 MONDO:0002612 "A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)" "UMLS:C0085541 DOID:3331 SCTID:230394006 MESH:D017034" GO:0045913 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate." @@ -23062,7 +23049,7 @@ NCBITaxon:11135 "GC_ID:1" http://identifiers.org/hgnc/12771 GO:0009653 "The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form." MONDO:0013574 "SCTID:254221009 MESH:C563639 UMLS:C0432335 Orphanet:171719 OMIM:614100" -MONDO:0011189 "An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3." "UMLS:C1865881 ICD10:I42.8 DOID:0110073 Orphanet:217656 OMIM:602087 MESH:C566583" +MONDO:0011189 "An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3." "UMLS:C1865881 DOID:0110073 Orphanet:217656 OMIM:602087 MESH:C566583" MONDO:0010815 "OMIM:600093 MESH:C564003 UMLS:C1838653" GO:0019899 "Binding to an enzyme, a protein with catalytic activity." SO:0000252 "rRNA is an RNA component of a ribosome that can provide both structural scaffolding and catalytic activity." @@ -23072,21 +23059,21 @@ MONDO:0011179 "OMIM:602068" http://identifiers.org/hgnc/29669 CHEBI:15765 "An optically active form of dopa having L-configuration. Used to treat the stiffness, tremors, spasms, and poor muscle control of Parkinson's disease" MONDO:0000134 -MONDO:0011528 "A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers." "OMIM:605258 GARD:0010578 ICD10:D80.5 Orphanet:183666 DOID:0060758 Orphanet:101089 SCTID:403836001 NCIT:C129074" +MONDO:0011528 "A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers." "OMIM:605258 GARD:0010578 ICD10CM:D80.5 Orphanet:183666 DOID:0060758 Orphanet:101089 SCTID:403836001 NCIT:C129074" CL:2000067 "Any fibroblast that is part of a cardiac atrium." MONDO:0012614 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene." "MESH:C567017 UMLS:C1970198 OMIM:611092" UBERON:0012359 MONDO:0014228 "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene." "OMIM:615523 Orphanet:98974 UMLS:C3809798" -MONDO:0014546 "Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms." "OMIM:616231 Orphanet:88635 UMLS:C4510368 ICD10:G71.8 SCTID:724095006 UMLS:C4015624" +MONDO:0014546 "Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms." "ICD10CM:G71.8 OMIM:616231 Orphanet:88635 UMLS:C4510368 SCTID:724095006 UMLS:C4015624" MONDO:0002110 "A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia." "DOID:1786 NCIT:C2860 EFO:1000798 ICDO:8671/0 UMLS:C0001630 MESH:D000314" MONDO:0000776 "OBSOLETE. A allergy involving a metal allergen." "UMLS:C0577627 DOID:0060501 SCTID:300915004" http://identifiers.org/hgnc/29401 NCBITaxon:204428 "GC_ID:11 PMID:29458499 PMID:26654112 PMID:24185849" MONDO:0000399 -MONDO:0001331 "UMLS:C0162280 DOID:11653 ICD10:H11.11 SCTID:62660000 ICD9:372.56" +MONDO:0001331 "UMLS:C0162280 DOID:11653 SCTID:62660000 ICD9:372.56" MONDO:0013575 "OMIM:614101" -MONDO:0014773 "Orphanet:369891 HGNC:22962 OMIM:616789 ICD10:Q87.8 GARD:0012999 UMLS:C4225208" -MONDO:0003060 "A malignant neoplasm involving the biliary tree" "ICD10:C24.9 DOID:4607 ICD9:156.9 GARD:0005924" +MONDO:0014773 "ICD10CM:Q87.8 Orphanet:369891 HGNC:22962 OMIM:616789 GARD:0012999 UMLS:C4225208" +MONDO:0003060 "A malignant neoplasm involving the biliary tree" "DOID:4607 ICD9:156.9 GARD:0005924" MONDO:0001997 "Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)" "DOID:14550 MESH:D012391 UMLS:C0035851" CL:0002082 "A chromaffin cell of the adrenal medulla that produces epinephrine." "FMA:69322" UBERON:0012358 @@ -23100,24 +23087,24 @@ FOODON:03411328 UBERON:0035371 MONDO:0016951 "Orphanet:262812" http://identifiers.org/hgnc/6902 -MONDO:0004652 "Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain." "NCIT:C26704 ICD10:J15.9 SCTID:53084003 MESH:D018410 DOID:874 ICD9:482.89 ICD9:482.9 UMLS:C0004626 EFO:1001272" +MONDO:0004652 "Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain." "NCIT:C26704 SCTID:53084003 MESH:D018410 DOID:874 ICD9:482.89 ICD9:482.9 UMLS:C0004626 EFO:1001272" http://identifiers.org/hgnc/18623 HP:0002098 "Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea." "SNOMEDCT_US:267036007 SNOMEDCT_US:230145002 UMLS:C0476273 SNOMEDCT_US:271825005 MSH:D004417 UMLS:C0013404" -MONDO:0004902 "ICD9:370.50 ICD10:H16.30 UMLS:C0155088 DOID:9857" +MONDO:0004902 "ICD9:370.50 UMLS:C0155088 DOID:9857" HP:0001873 "A reduction in the number of circulating thrombocytes." "SNOMEDCT_US:302215000 UMLS:C0040034 UMLS:C0392386 SNOMEDCT_US:415116008 MSH:D013921" MONDO:0020123 "A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction." "UMLS:C0270984 Orphanet:98486 ICD9:359.89 NCIT:C98985 MedDRA:10068836 SCTID:26111005" -MONDO:0014445 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene." "DOID:0110139 ICD10:Q87.89 UMLS:C3714980 OMIM:615994" -MONDO:0008948 "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." "SCTID:63246000 DOID:4810 NCIT:C84628 MESH:D019294 Orphanet:909 ICD10:E75.5 GARD:0005622 OMIM:213700 UMLS:C0238052" +MONDO:0014445 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene." "DOID:0110139 UMLS:C3714980 OMIM:615994" +MONDO:0008948 "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." "SCTID:63246000 DOID:4810 ICD10CM:E75.5 NCIT:C84628 MESH:D019294 Orphanet:909 GARD:0005622 OMIM:213700 UMLS:C0238052" MONDO:0003706 "UMLS:C1332191 NCIT:C6954 DOID:5922" MONDO:0003835 "A carcinoma that arises from glandular epithelial cells of the cardia of stomach." "NCIT:C5247 UMLS:C1333762 DOID:6271" -MONDO:0000983 "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger." "MESH:D005084 ICD9:302.4 DOID:10236 SCTID:58349009 ICD10:F65.2 NCIT:C94352" -MONDO:0005842 "An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus." "SCTID:88348008 ICD10:J32.0 DOID:2051 EFO:0007361 UMLS:C0024959 MESH:D015523 NCIT:C34809" +MONDO:0000983 "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger." "ICD10CM:F65.2 MESH:D005084 ICD9:302.4 DOID:10236 SCTID:58349009 NCIT:C94352" +MONDO:0005842 "An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus." "SCTID:88348008 DOID:2051 EFO:0007361 UMLS:C0024959 MESH:D015523 ICD10CM:J32.0 NCIT:C34809" MONDO:0011564 "A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24." "DOID:0111014 MESH:C565322 UMLS:C1854180 OMIM:605549" MONDO:0005000 MONDO:0007663 "MESH:C564235 UMLS:C1842030 OMIM:137700" -MONDO:0017390 "OBSOLETE. Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." "ICD10:E71.1 Orphanet:293355" +MONDO:0017390 "OBSOLETE. Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." "Orphanet:293355 ICD10CM:E71.1" GO:0090023 "Any process that increases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding." -MONDO:0020433 "Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure." "ICD10:Q20.8 Orphanet:99102" +MONDO:0020433 "Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure." "ICD10CM:Q20.8 Orphanet:99102" MONDO:0016950 "Orphanet:262803" http://identifiers.org/hgnc/6901 MONDO:0009384 "Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene." "Orphanet:755 Orphanet:96265 Orphanet:96266 OMIM:238320" @@ -23125,10 +23112,10 @@ HP:0002514 "The presence of calcium deposition within brain structures." "SNOMED MONDO:0006160 "A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp." "UMLS:C3272801 EFO:1000193 NCIT:C96474" MONDO:0004068 MONDO:0005049 "Bleeding within the cranium." "NCIT:C50438 MESH:D020300 EFO:0000551 ICD9:432.9 UMLS:CN236663" -MONDO:0013342 "Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported." "ICD10:G11.4 UMLS:C3150901 SCTID:763367009 DOID:0110800 Orphanet:306511 OMIM:613647" +MONDO:0013342 "Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported." "ICD10CM:G11.4 UMLS:C3150901 SCTID:763367009 DOID:0110800 Orphanet:306511 OMIM:613647" http://identifiers.org/hgnc/26050 UBERON:0014765 -MONDO:0005186 "A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance." "EFO:0002610 ICD10:F14.2 NCIT:C34492 ICD9:304.20 DOID:9975 SCTID:31956009 ICD9:304.2" +MONDO:0005186 "A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance." "EFO:0002610 NCIT:C34492 ICD9:304.20 DOID:9975 SCTID:31956009 ICD9:304.2" UBERON:0012102 MONDO:0003703 http://identifiers.org/hgnc/2364 @@ -23137,10 +23124,10 @@ CHEBI:36587 "Organic compounds containing an oxygen atom, =O, doubly bonded to c MONDO:0002506 HP:0001669 "A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle." "SNOMEDCT_US:204296002 SNOMEDCT_US:26146002 UMLS:C3536741" http://identifiers.org/hgnc/18625 -MONDO:0017124 "Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face." "ICD9:528.1 NCIT:C34852 SCTID:18116006 EFO:1001063 UMLS:C0028271 MESH:D009625 MedDRA:10029502 GARD:0004001 DOID:9672 Orphanet:2700 ICD10:A69.0" +MONDO:0017124 "Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face." "ICD9:528.1 NCIT:C34852 SCTID:18116006 EFO:1001063 UMLS:C0028271 MESH:D009625 MedDRA:10029502 GARD:0004001 DOID:9672 Orphanet:2700" HP:0000964 "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." "SNOMEDCT_US:281104002 UMLS:C0013595 MSH:D004485 SNOMEDCT_US:43116000" GO:0042737 "The chemical reactions and pathways resulting in the breakdown of a drug, a substance used in the diagnosis, treatment or prevention of a disease." -MONDO:0015447 "Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass." "EFO:1002017 OMIM:607464 UMLS:C0238463 NCIT:C7153 ICD10:C73 DOID:0080525 UMLS:C1337013 OMIM:188550 ONCOTREE:WDTC Orphanet:146" +MONDO:0015447 "Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass." "EFO:1002017 OMIM:607464 UMLS:C0238463 NCIT:C7153 DOID:0080525 UMLS:C1337013 ICD10CM:C73 OMIM:188550 ONCOTREE:WDTC Orphanet:146" UBERON:0006235 UBERON:0008896 HP:0000633 "Abnormally decreased lacrimation, that is, reduced ability to produce tears." "UMLS:C0235857" @@ -23149,52 +23136,52 @@ UBERON:0012367 http://identifiers.org/hgnc/18626 PATO:0002254 "A quality inhering in a bearer by virtue of the bearer's surface becoming more extended in a plane." GO:0019318 "The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule." -MONDO:0010099 "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency." "NCIT:C133084 Orphanet:309246 UMLS:C0268275 SCTID:71253000 MESH:D049290 DOID:4795 OMIM:272750 ICD10:E75.0" +MONDO:0010099 "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency." "NCIT:C133084 Orphanet:309246 UMLS:C0268275 SCTID:71253000 ICD10CM:E75.0 MESH:D049290 DOID:4795 OMIM:272750" MONDO:0005268 -MONDO:0012455 "A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." "ICD10:Q87.8 DOID:0060352 OMIMPS:610253 Orphanet:261494 GARD:0008672 OMIM:610253" +MONDO:0012455 "A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." "DOID:0060352 ICD10CM:Q87.8 OMIMPS:610253 Orphanet:261494 GARD:0008672 OMIM:610253" MONDO:0021181 "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation." "Orphanet:183654 UMLS:C0852077 DOID:2214 UMLS:CN226819 MESH:D025861" MONDO:0003184 "A carcinoma that arises from epithelial cells of the trachea." "DOID:4876 EFO:1000599 UMLS:C1744708 NCIT:C9347" MONDO:0013692 "BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape." "SCTID:765057007 GARD:0013219 UMLS:C3280492 OMIM:614327 Orphanet:289539" -MONDO:0004904 "ICD10:H35.38 DOID:9867 SCTID:44115007 UMLS:C0271086 ICD9:362.55" -MONDO:0009067 "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." "MESH:D003555 MedDRA:10011778 ICD10:E72.01 Orphanet:214 UMLS:C1857389 SCTID:85020001 DOID:9266 Orphanet:93612 GARD:0006237 HP:0003131 UMLS:C0010691 NCIT:C84664 Orphanet:93613 ICD10:E72.0 OMIM:220100" +MONDO:0004904 "DOID:9867 SCTID:44115007 UMLS:C0271086 ICD9:362.55" +MONDO:0009067 "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." "MESH:D003555 MedDRA:10011778 Orphanet:214 UMLS:C1857389 SCTID:85020001 DOID:9266 Orphanet:93612 GARD:0006237 HP:0003131 UMLS:C0010691 NCIT:C84664 Orphanet:93613 ICD10CM:E72.0 OMIM:220100" CL:0002574 "A stromal cell of the pancreas." HsapDv:0000103 "Child stage that refers to a child who is over 9 and under 10 years old." CL:0002020 "A reticulocyte that is GlyA-positive." -MONDO:0004903 "DOID:9858 SCTID:445741003 ICD9:370.5 ICD9:370.59 UMLS:C2960633 ICD10:H16.3" +MONDO:0004903 "DOID:9858 SCTID:445741003 ICD9:370.5 ICD9:370.59 UMLS:C2960633" UBERON:0006234 UBERON:0008897 -MONDO:0001308 "SCTID:74460005 UMLS:C0162281 ICD10:H18.0 ICD10:H18.00 ICD9:371.10 DOID:11547" +MONDO:0001308 "SCTID:74460005 UMLS:C0162281 ICD10CM:H18.0 ICD9:371.10 DOID:11547" CL:0000649 "A cell with delicate radiating processes known as desmosomes that form intercellular bridges between other cells of this type. This cell type forms the stratum spinosum (prickle cell layer). A function of this cell is to generate keratin." "FMA:69059" MONDO:0009873 "Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985." "GARD:0000277 OMIM:262020 MESH:C535763 UMLS:C1849805 Orphanet:2892" MONDO:0003705 "DOID:5921 NCIT:C9371 UMLS:C1377915" MONDO:0100423 "Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)" "NCIT:C82612" -MONDO:0004995 "A disease involving the cardiovascular system." "ICD9:390-459.99 ICD9:420-429.99 ICD9:459.89 ICD9:423.8 UMLS:C0007222 MESH:D002318 ICD9:429.8 ICD9:429.89 ICD9:429 ICD9:429.2 SCTID:49601007 ICD9:429.7 DOID:1287 NCIT:C2931 ICD9:459.9 ICD9:424 EFO:0000319 ICD10:I00.I99 ICD9:423 ICD9:429.81" +MONDO:0004995 "A disease involving the cardiovascular system." "ICD9:390-459.99 ICD9:420-429.99 ICD9:459.89 ICD9:423.8 UMLS:C0007222 MESH:D002318 ICD9:429.8 ICD9:429.89 ICD9:429 ICD9:429.2 SCTID:49601007 ICD10CM:P19-P29 ICD9:429.7 DOID:1287 NCIT:C2931 ICD9:459.9 ICD9:424 EFO:0000319 ICD9:423 ICD9:429.81 ICD10CM:I00-I99" http://identifiers.org/hgnc/5967 MONDO:0015750 MONDO:0019269 "Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies." "HP:0008064 NCIT:C84776 MedDRA:10021198 Orphanet:79354 MESH:D007057 UMLS:C0020757 DOID:1697" MONDO:0005490 "Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain." "EFO:0005524" MONDO:0005263 MONDO:0015000 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene." "UMLS:C4310637 DOID:0080448 OMIM:617276" -MONDO:0001306 "DOID:11541 SCTID:2055003 ICD9:371.42 HP:0000495 ICD10:H18.83 UMLS:C0155119" +MONDO:0001306 "DOID:11541 SCTID:2055003 ICD9:371.42 HP:0000495 UMLS:C0155119" MONDO:0033620 "OMIM:619040" -MONDO:0012200 "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene." "MESH:C563788 Orphanet:98973 ICD10:H18.50 UMLS:C1836724 OMIM:609141 DOID:0110857" -MONDO:0020072 "A epilepsy syndrome that occurs during childhood." "Orphanet:98259 ICD10:G40.4 UMLS:CN206976" +MONDO:0012200 "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene." "MESH:C563788 Orphanet:98973 OMIM:609141 UMLS:C1836724 DOID:0110857" +MONDO:0020072 "A epilepsy syndrome that occurs during childhood." "ICD10CM:G40.4 Orphanet:98259 UMLS:CN206976" UBERON:0005036 -MONDO:0007172 "An atrial heart septal defect type 1 associated with variation in the region 5p." "UMLS:C1862389 Orphanet:1478 OMIM:108800 ICD10:Q21.1 DOID:0110106" +MONDO:0007172 "An atrial heart septal defect type 1 associated with variation in the region 5p." "UMLS:C1862389 Orphanet:1478 OMIM:108800 DOID:0110106" MONDO:0000109 MONDO:0030028 "OMIM:618868" UBERON:0004938 CHR:9606-chrXq12-q13.3 -MONDO:0019225 "An acquired metabolic disease that is has its basis in the disruption of gluconeogenesis." "Orphanet:79177 UMLS:CN227592 ICD10:E74.4" +MONDO:0019225 "An acquired metabolic disease that is has its basis in the disruption of gluconeogenesis." "Orphanet:79177 ICD10CM:E74.4 UMLS:CN227592" MONDO:0004934 "Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)" "UMLS:C0031111 MESH:D010522 NCIT:C13184 DOID:9957 SCTID:41910004 HP:0040165" -MONDO:0008247 "Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986." "MESH:C535688 UMLS:C1868309 ICD10:Q87.0 Orphanet:3104 OMIM:172880 GARD:0004729" +MONDO:0008247 "Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986." "MESH:C535688 UMLS:C1868309 Orphanet:3104 OMIM:172880 GARD:0004729 ICD10CM:Q87.0" HP:0000119 "The presence of any abnormality of the genitourinary system." "UMLS:C4020895 MSH:D014564 SNOMEDCT_US:42030000 UMLS:C0042063 SNOMEDCT_US:287085006 UMLS:C0080276" http://identifiers.org/hgnc/21158 MONDO:0012907 "This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes." "MESH:C567309 SCTID:717920004 Orphanet:171844 OMIM:612445 UMLS:C2676234" MONDO:0030027 "OMIM:618866" MONDO:0032688 "OMIM:618343" HP:0011339 "An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin." "UMLS:C4023406" -MONDO:0012191 "Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement." "SCTID:764962002 UMLS:C1836797 NCIT:C125663 Orphanet:137681 ICD10:E88.8 DOID:0111474 MESH:C563797 OMIM:609060" +MONDO:0012191 "Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement." "SCTID:764962002 UMLS:C1836797 NCIT:C125663 Orphanet:137681 DOID:0111474 MESH:C563797 OMIM:609060 ICD10CM:E88.8" PATO:0001292 "An EM radiation quality that is independent of the EM wavelength range." GO:0007599 "The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part." MONDO:0033885 "OMIMPS:220110" @@ -23204,30 +23191,30 @@ MONDO:0001411 "A disease characterized by abnormal union between adjacent bones UBERON:0005037 GO:0002700 "Any process that modulates the frequency, rate, or extent of the production of molecular mediator of immune response." MONDO:0000108 "UMLS:C3280646" -MONDO:0002571 "A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." "ONCOTREE:PCNSL NCIT:C9301 ICD10:C83.3 GARD:0009318 ICD9:200.5 Orphanet:46135 DOID:3234 MedDRA:10036685 UMLS:C0742472 EFO:1000157 SCTID:307649006" +MONDO:0002571 "A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." "ONCOTREE:PCNSL NCIT:C9301 GARD:0009318 ICD9:200.5 Orphanet:46135 DOID:3234 MedDRA:10036685 UMLS:C0742472 ICD10CM:C83.3 EFO:1000157 SCTID:307649006" MONDO:0030029 "OMIM:618870" MONDO:0016214 "Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality." "UMLS:CN200975 Orphanet:210136" UBERON:0004939 NCBITaxon:53469 "GC_ID:1" -MONDO:0019780 "Anotia is a congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." "SCTID:57436000 MedDRA:10002654 ICD9:744.01 OMIM:600674 ICD10:Q16.0 ICD10:Q16.1 Orphanet:93976" +MONDO:0019780 "Anotia is a congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." "SCTID:57436000 MedDRA:10002654 ICD9:744.01 OMIM:600674 Orphanet:93976" MONDO:0006461 http://identifiers.org/hgnc/21157 MONDO:0002504 MONDO:0032687 "OMIM:618342" MONDO:0017162 "Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989." "Orphanet:2759 GARD:0002989 UMLS:CN202584" http://identifiers.org/hgnc/5965 -MONDO:0010270 "Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers." "ICD10:Q87.8 OMIM:300218 GARD:0009156 UMLS:C4304916 DOID:0060808 MESH:C537449 UMLS:C1846170 SCTID:719160009 Orphanet:85274" +MONDO:0010270 "Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers." "ICD10CM:Q87.8 OMIM:300218 GARD:0009156 UMLS:C4304916 DOID:0060808 MESH:C537449 UMLS:C1846170 SCTID:719160009 Orphanet:85274" MONDO:0000634 "A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma." "NCIT:C4565 DOID:0060097 UMLS:C0346440 ICD9:229.8 SCTID:255059002" MONDO:0033622 "OMIM:619044" MONDO:0005621 "Damage to the blood vessels of the brain" "MESH:D020214 EFO:0006791" MONDO:0001304 "DOID:11520 ICD9:403.1 SCTID:193003 UMLS:C0155596 ICD9:403.10" -MONDO:0009714 "Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries." "Orphanet:289380 MESH:C564968 OMIM:255600 SCTID:763895001 MedDRA:10064584 ICD10:G71.8" +MONDO:0009714 "Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries." "Orphanet:289380 MESH:C564968 OMIM:255600 ICD10CM:G71.8 SCTID:763895001 MedDRA:10064584" UBERON:0005038 GO:0030261 "The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells." CHEBI:58953 "Any fatty acid anion in which there is no C-C unsaturation." NCBITaxon:53466 "GC_ID:1" -MONDO:0044210 "The inheritance of only one mutated beta-globin allele (beta+ or beta0)." "SCDO:0000114 ICD10:D56.3 SCTID:19442009 MedDRA:10054662" -MONDO:0004900 "ICD9:386.10 ICD9:386.1 ICD10:H81.399 ICD9:386.19 DOID:9847 UMLS:C0155501 SCTID:50438001 ICD10:H81.3 ICD10:H81.39" +MONDO:0044210 "The inheritance of only one mutated beta-globin allele (beta+ or beta0)." "SCDO:0000114 ICD10CM:D56.3 SCTID:19442009 MedDRA:10054662" +MONDO:0004900 "ICD9:386.10 ICD9:386.1 ICD9:386.19 DOID:9847 UMLS:C0155501 SCTID:50438001" MONDO:0015428 "Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." "MESH:C535810 GARD:0003704 Orphanet:1433 SCTID:720850008 UMLS:C2931026" HP:0000014 "An abnormality of the urinary bladder." "UMLS:C0149632" MONDO:0000106 @@ -23237,33 +23224,33 @@ GO:0032277 "Any process that stops, prevents, or reduces the frequency, rate or UBERON:0006239 http://identifiers.org/hgnc/5964 UBERON:0012363 -MONDO:0019516 "Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." "ICD9:362.10 Orphanet:891 OMIM:616468 OMIMPS:133780 MESH:C536382 UMLS:C4072980 OMIM:613310 SCTID:232063007 OMIM:605750 UMLS:C1851402 MESH:C580083 OMIM:601813 ICD10:H35.00 DOID:0050535 OMIM:133780 OMIM:305390 GARD:0001613 ICD10:H35.0" +MONDO:0019516 "Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." "ICD9:362.10 Orphanet:891 OMIM:616468 OMIMPS:133780 MESH:C536382 UMLS:C4072980 OMIM:613310 SCTID:232063007 OMIM:605750 MESH:C580083 UMLS:C1851402 OMIM:601813 DOID:0050535 OMIM:133780 OMIM:305390 GARD:0001613 ICD10CM:H35.0" MONDO:0033621 "OMIM:619042" -MONDO:0001303 "ICD10:H57.09 DOID:11518 HP:0007686 ICD9:379.49 SCTID:72124005 ICD9:379.40" +MONDO:0001303 "DOID:11518 HP:0007686 ICD9:379.49 SCTID:72124005 ICD9:379.40" UBERON:0005039 MONDO:0013034 "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene." "OMIM:612908 MESH:C565102 UMLS:C1852127 Orphanet:50942" NCBITaxon:53467 "GC_ID:1" -MONDO:0013722 "Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene." "DOID:0060797 ICD10:G11.1 UMLS:C3280644 OMIM:614381 Orphanet:88637" -MONDO:0012873 "Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers." "OMIM:612350 UMLS:C2676510 MESH:C567340 Orphanet:157965 ICD10:Q79.6" +MONDO:0013722 "Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene." "DOID:0060797 UMLS:C3280644 OMIM:614381 Orphanet:88637" +MONDO:0012873 "Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers." "OMIM:612350 UMLS:C2676510 MESH:C567340 Orphanet:157965 ICD10CM:Q79.6" MONDO:0014714 "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal." "Orphanet:477814 OMIM:616632 UMLS:C4225261" MONDO:0030026 "OMIM:618863" -MONDO:0009943 "Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning." "ICD9:758.5 SCTID:27837003 MESH:C536252 Orphanet:3005 OMIM:215050 DOID:0080019 GARD:0004612 OMIM:265900 ICD10:Q78.5" +MONDO:0009943 "Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning." "ICD9:758.5 SCTID:27837003 MESH:C536252 Orphanet:3005 OMIM:215050 DOID:0080019 ICD10CM:Q78.5 GARD:0004612 OMIM:265900" MONDO:0032689 "OMIM:618345" MONDO:0008860 "OMIM:210100 MESH:C565904 UMLS:C1859518" MONDO:0000105 MONDO:0006421 "A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." "EFO:1000538 NCIT:C43552 UMLS:C1710112" MONDO:0002502 -MONDO:0017282 "Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice." "Orphanet:284 GARD:0000207 UMLS:C0152069 ICD10:B67.7 UMLS:C0948954 DOID:12148 ICD10:B67.5 ICD9:122.7 ICD10:B67.6 SCTID:21009004 MedDRA:10053042 MESH:C536591" +MONDO:0017282 "Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice." "UMLS:C0152069 MedDRA:10053042 SCTID:21009004 UMLS:C0948954 GARD:0000207 DOID:12148 ICD10CM:B67.5 ICD10CM:B67.7 Orphanet:284 MESH:C536591 ICD10CM:B67.6 ICD9:122.7" http://identifiers.org/hgnc/6062 UBERON:0006238 -MONDO:0019472 "Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described." "UMLS:C0392788 MedDRA:10065855 NCIT:C4684 ICD10:C86.0 ICDO:9719/3 GARD:0013270 Orphanet:86879" -MONDO:0011518 "Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language." "MESH:C536704 Orphanet:319182 GARD:0005565 OMIM:605130 ICD10:Q87.1" -MONDO:0000744 "A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis." "EFO:1001362 HP:0025044 SCTID:73452002 DOID:0060317 ICD9:513.0 NCIT:C99090 UMLS:C0024110 ICD10:J85.2 MESH:D008169" +MONDO:0019472 "Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described." "UMLS:C0392788 MedDRA:10065855 NCIT:C4684 ICDO:9719/3 GARD:0013270 Orphanet:86879" +MONDO:0011518 "Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language." "MESH:C536704 Orphanet:319182 ICD10CM:Q87.1 GARD:0005565 OMIM:605130" +MONDO:0000744 "A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis." "EFO:1001362 HP:0025044 SCTID:73452002 DOID:0060317 ICD9:513.0 NCIT:C99090 UMLS:C0024110 MESH:D008169" MONDO:0004430 "A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma)." "UMLS:C1513369 DOID:8009 NCIT:C39959" -MONDO:0018255 "Orphanet:370019 ICD10:Q77.8" -MONDO:0007028 "Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder." "UMLS:C0263912 SCTID:4106009 EFO:1001250 https://en.wikipedia.org/wiki/Rotator_cuff_tear ICD9:726.10 ICD10:M75.1" +MONDO:0018255 "Orphanet:370019 ICD10CM:Q77.8" +MONDO:0007028 "Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder." "Wikipedia:Rotator_cuff_tear UMLS:C0263912 SCTID:4106009 EFO:1001250 ICD10CM:M75.1 ICD9:726.10" MONDO:0010660 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene." "OMIM:309549 Orphanet:777 MESH:C563137 UMLS:C0796215" -MONDO:0009718 "A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance." "OMIM:255900 MedDRA:10028663 UMLS:C0027145 EFO:1001055 SCTID:43153006 ICD10:E03.9 MESH:D009230 NCIT:C34834 DOID:11634" +MONDO:0009718 "A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance." "OMIM:255900 MedDRA:10028663 UMLS:C0027145 EFO:1001055 SCTID:43153006 MESH:D009230 NCIT:C34834 DOID:11634" MONDO:0014259 "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene." "OMIM:615575 Orphanet:139525 DOID:0111210" MONDO:0016959 "Orphanet:262896" MONDO:0014746 "UMLS:CN234734 Orphanet:468699 OMIM:616721 UMLS:C4225234 DOID:0070266" @@ -23272,18 +23259,18 @@ UBERON:0011164 UBERON:0005298 MONDO:0021398 "A polyp that involves the rectum." "UMLS:C0034887 SCTID:39772007 NCIT:C3351" UBERON:0005032 -MONDO:0019313 "Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation." "SCTID:254199006 SCTID:399889006 ICD10:Q82.0 DOID:0050580 OMIM:247440 OMIM:613480 ICD9:757.0 OMIM:611944 GARD:0007220 OMIM:153200 OMIMPS:153100 OMIM:153100 Orphanet:79452 OMIM:615907" +MONDO:0019313 "Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation." "SCTID:254199006 SCTID:399889006 DOID:0050580 OMIM:247440 OMIM:613480 ICD9:757.0 OMIM:611944 GARD:0007220 ICD10CM:Q82.0 OMIM:153200 OMIMPS:153100 OMIM:153100 Orphanet:79452 OMIM:615907" MONDO:0032684 "OMIM:618336" -MONDO:0017057 "OMIM:273900 UMLS:CN227073 Orphanet:268322 OMIM:188000 ICD10:D69.4 OMIM:313900 OMIM:612004" +MONDO:0017057 "OMIM:273900 UMLS:CN227073 Orphanet:268322 OMIM:188000 OMIM:313900 OMIM:612004 ICD10CM:D69.4" CHEBI:50910 "A poison that interferes with the functions of the nervous system." MONDO:0008601 "OMIM:190420 MESH:C566031 UMLS:C1860821" -MONDO:0017334 "12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated." "UMLS:CN202984 Orphanet:289513 SCTID:734030009 ICD10:Q93.5 UMLS:C4518344" -MONDO:0013674 "Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." "ICD10:G23.0 ICD9:333.0 Orphanet:289560 UMLS:C3280371 DOID:0110738 SCTID:709415008 GARD:0012569 OMIM:614298" +MONDO:0017334 "12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated." "ICD10CM:Q93.5 UMLS:CN202984 Orphanet:289513 SCTID:734030009 UMLS:C4518344" +MONDO:0013674 "Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." "ICD9:333.0 ICD10CM:G23.0 Orphanet:289560 UMLS:C3280371 DOID:0110738 SCTID:709415008 GARD:0012569 OMIM:614298" UBERON:0012361 UBERON:0002539 MONDO:0005419 "A drug dependence that is a psychological dependency on the regular use of metamphetamine." "EFO:0004701" UBERON:0004933 -MONDO:0010336 "Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." "DOID:0060378 OMIM:300484 ICD10:Q87.0 SCTID:722106001 GARD:0004060 Orphanet:2755 MESH:C557820" +MONDO:0010336 "Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." "DOID:0060378 OMIM:300484 SCTID:722106001 GARD:0004060 Orphanet:2755 MESH:C557820 ICD10CM:Q87.0" HP:0011747 "An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland." "UMLS:C4023206 UMLS:C0032002 MSH:D010900 SNOMEDCT_US:399244003" MONDO:0011182 "A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals." "SCTID:237959005 UMLS:C0342739 GARD:0006447 HP:0003614 MESH:C536561 OMIM:602079 DOID:0080361 Orphanet:35056" MONDO:0002402 "A malignant neoplasm characterized by then presence of atypical giant cells." "UMLS:C0334229 DOID:2705 ICDO:8003/3 NCIT:C4090" @@ -23298,17 +23285,17 @@ UBERON:0005299 UBERON:0004935 CL:0000457 UBERON:0005033 -MONDO:0019913 "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders)." "Orphanet:96182 ICD10:Q87.1 UMLS:CN206841" +MONDO:0019913 "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders)." "Orphanet:96182 UMLS:CN206841 ICD10CM:Q87.1" UBERON:0010801 MONDO:0010448 "Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism." "Orphanet:280679 UMLS:C3151857 OMIM:300845" GO:0044247 "The chemical reactions and pathways resulting in the breakdown of polysaccharides, polymers of many (typically more than 10) monosaccharide residues linked glycosidically, as carried out by individual cells." UBERON:0004934 UBERON:0012360 MONDO:0030024 "OMIM:618859" -MONDO:0007740 "Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." "UMLS:C1840452 OMIM:143200 GARD:0007871 ICD10:H35.5 MedDRA:10063383 SCTID:232064001 Orphanet:898 MESH:C536075" +MONDO:0007740 "Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." "UMLS:C1840452 OMIM:143200 GARD:0007871 ICD10CM:H35.5 MedDRA:10063383 SCTID:232064001 Orphanet:898 MESH:C536075" MONDO:0005981 "Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks." "DOID:11285 MESH:D013985 SCTID:74225001 UMLS:C0040197 EFO:0007509 GARD:0007771" UBERON:0007691 -MONDO:0018253 "UMLS:CN204829 ICD10:Q87.0 Orphanet:370010" +MONDO:0018253 "UMLS:CN204829 ICD10CM:Q87.0 Orphanet:370010" GO:0034622 "The aggregation, arrangement and bonding together of a set of components to form a protein complex, occurring at the level of an individual cell." GO:0006541 "The chemical reactions and pathways involving glutamine, 2-amino-4-carbamoylbutanoic acid." MONDO:0014748 "UMLS:C4225232 Orphanet:457395 OMIM:616723" @@ -23317,7 +23304,7 @@ UBERON:0035111 UBERON:0011166 UBERON:0005034 http://identifiers.org/hgnc/9402 -MONDO:0017614 "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982." "UMLS:C0796264 ICD10:Q87.8 Orphanet:3055 GARD:0000345 MESH:C536715" +MONDO:0017614 "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982." "UMLS:C0796264 Orphanet:3055 GARD:0000345 MESH:C536715 ICD10CM:Q87.8" MONDO:0003534 "A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis." "NCIT:C27937 UMLS:C1335327 DOID:5595" MONDO:0014695 "Any malignant glioma in which the cause of the disease is a mutation in the POT1 gene." "Orphanet:251630 Orphanet:251627 OMIM:616568" MONDO:0007406 "UMLS:C1852457 MESH:C565142 OMIM:123540" @@ -23325,10 +23312,10 @@ MONDO:0021339 "A carcinoma that involves the hard palate." "NCIT:C8394 SCTID:254 MONDO:0005778 "Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation." "DOID:3332 MESH:D006188 UMLS:C0018477 EFO:0007293" MONDO:0001892 "A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion." "DOID:14150 NCIT:C5157 UMLS:C1336044" MONDO:0023199 "GARD:0002395" -MONDO:0013276 "Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc)." "Orphanet:779 GARD:0004697 OMIM:613471 ICD10:L94.0 SCTID:715401008 UMLS:C0748397 ICD10:K74.3" +MONDO:0013276 "Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc)." "Orphanet:779 GARD:0004697 OMIM:613471 SCTID:715401008 UMLS:C0748397" http://identifiers.org/hgnc/6909 MONDO:0032686 "OMIM:618341" -MONDO:0010938 "Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." "UMLS:C4273742 UMLS:C1833275 ICD10:D81.2 OMIM:600802 Orphanet:35078 SCTID:718107000 MESH:C563440" +MONDO:0010938 "Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." "ICD10CM:D81.2 UMLS:C4273742 UMLS:C1833275 OMIM:600802 Orphanet:35078 SCTID:718107000 MESH:C563440" GO:0071478 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation." MONDO:0006871 "A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." "DOID:4320 EFO:1001064 UMLS:C1135873 MESH:D031954" HP:0010316 "Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet." "MSH:D004437 UMLS:C0013481 ICD-10:Q22.5 SNOMEDCT_US:204357006 EPCC:06.01.34" @@ -23337,12 +23324,12 @@ MONDO:0021036 "A form of dry skin characterised by hair follicles plugged by sca MONDO:0100150 CHEBI:23114 MONDO:0024622 "An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation)." "DOID:0080524 NCIT:C27380" -MONDO:0011514 "Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)." "NCIT:C85202 MESH:D018785 OMIM:605067 HP:0011662 GARD:0005274 UMLS:C0243002 DOID:0080169 Orphanet:1209 MedDRA:10049767 SCTID:63042009 ICD10:Q22.4" -MONDO:0018254 "Orphanet:370015 ICD10:Q77.8" -MONDO:0004849 "A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." "ICD10:J43.8 DOID:9675 SCTID:87433001 ICD10:J43 MESH:D011656 GARD:0011937 ICD9:492.8 NCIT:C3348 EFO:0000464 MESH:D004646 ICD9:492 OMIM:130700" +MONDO:0011514 "Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)." "NCIT:C85202 MESH:D018785 OMIM:605067 HP:0011662 GARD:0005274 UMLS:C0243002 DOID:0080169 ICD10CM:Q22.4 Orphanet:1209 MedDRA:10049767 SCTID:63042009" +MONDO:0018254 "Orphanet:370015 ICD10CM:Q77.8" +MONDO:0004849 "A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." "DOID:9675 SCTID:87433001 ICD10CM:J43 MESH:D011656 GARD:0011937 ICD9:492.8 NCIT:C3348 EFO:0000464 ICD9:492 MESH:D004646 OMIM:130700" UBERON:0035110 MONDO:0020794 "A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis." "NCIT:C43590" -MONDO:0013673 "Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings." "EFO:0009063 MESH:C565631 ICD10:E13.8 UMLS:C3280358 OMIM:614296 DOID:0080584 Orphanet:411590 UMLS:C4518338 SCTID:734022008" +MONDO:0013673 "Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings." "EFO:0009063 MESH:C565631 UMLS:C3280358 OMIM:614296 DOID:0080584 Orphanet:411590 UMLS:C4518338 SCTID:734022008 ICD10CM:E13.8" UBERON:0005035 UBERON:0004937 http://identifiers.org/hgnc/18884 @@ -23351,20 +23338,20 @@ GO:0010771 "Any process that decreases the frequency, rate or extent of cell mor CHEBI:26078 "A phosphorus oxoacid that consists of one oxo and three hydroxy groups joined covalently to a central phosphorus atom." MONDO:0032685 "OMIM:618339" MONDO:0024504 "A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome." "NCIT:C4446 Orphanet:506090" -MONDO:0017056 "ICD10:Q93.5 UMLS:CN202414 Orphanet:268261" +MONDO:0017056 "UMLS:CN202414 ICD10CM:Q93.5 Orphanet:268261" GO:0045786 "Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle." -MONDO:0017042 "Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape." "Orphanet:93275 DOID:13481 UMLS:C0039743 OMIM:273680 MESH:D013796 ICD10:Q77.1 Orphanet:1860 Orphanet:93274 NCIT:C85187 MedDRA:10049808 Orphanet:2655 GARD:0000085 SCTID:29352008 OMIM:156830 OMIM:187600 ICD9:259.4 OMIM:187601" -MONDO:0015758 "GARD:0006226 ICD10:C84.8 MedDRA:10011677 MESH:D016410 Orphanet:171901" +MONDO:0017042 "Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape." "Orphanet:93275 DOID:13481 UMLS:C0039743 OMIM:273680 MESH:D013796 Orphanet:1860 Orphanet:93274 NCIT:C85187 MedDRA:10049808 Orphanet:2655 GARD:0000085 SCTID:29352008 OMIM:156830 OMIM:187600 ICD9:259.4 OMIM:187601" +MONDO:0015758 "GARD:0006226 MedDRA:10011677 MESH:D016410 Orphanet:171901" ENVO:01001057 "An environmental system determined by part of a living or dead plant, or a whole small plant." NCBITaxon:644710 "GC_ID:1" -MONDO:0009577 "Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported." "Orphanet:2479 GARD:0003448 MESH:C536143 UMLS:C0796086 ICD10:Q87.8 SCTID:733522005 OMIM:249310" +MONDO:0009577 "Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported." "Orphanet:2479 GARD:0003448 MESH:C536143 ICD10CM:Q87.8 UMLS:C0796086 SCTID:733522005 OMIM:249310" http://identifiers.org/hgnc/438 UBERON:0007690 CL:1001597 "Glandular cell of seminal vesicle epithelium." "CALOHA:TS-1283" -MONDO:0018087 "A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging." "MESH:D006482 UMLS:C0282687 NCIT:C36170 UMLS:CN204409 SCTID:240523007 UMLS:C0019104 Orphanet:341 GARD:0005494" -MONDO:0010077 "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal." "OMIM:271665 GARD:0010616 ICD10:Q77.7 Orphanet:93358 UMLS:C1849011 MESH:C564794" -MONDO:0019462 "Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated." "ICDO:9689/3 ONCOTREE:SMZL EFO:1000550 ICD10:C83.0 NCIT:C4663 SCTID:763666008 Orphanet:86854 DOID:0050750 UMLS:C0349632 MedDRA:10062113" -MONDO:0021191 "A malignant form of ependymoma." "UMLS_CUI:C1333407 DOID:5074" +MONDO:0018087 "A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging." "MESH:D006482 UMLS:C0282687 NCIT:C36170 SCTID:240523007 UMLS:CN204409 UMLS:C0019104 Orphanet:341 GARD:0005494" +MONDO:0010077 "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal." "OMIM:271665 GARD:0010616 Orphanet:93358 UMLS:C1849011 ICD10CM:Q77.7 MESH:C564794" +MONDO:0019462 "Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated." "ICDO:9689/3 ONCOTREE:SMZL EFO:1000550 NCIT:C4663 SCTID:763666008 Orphanet:86854 DOID:0050750 UMLS:C0349632 MedDRA:10062113 ICD10CM:C83.0" +MONDO:0021191 "A malignant form of ependymoma." "DOID:5074" MONDO:0002867 "A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes." "NCIT:C3874 UMLS:C0238337 DOID:4073 SCTID:235966007" http://identifiers.org/hgnc/9666 UBERON:0005294 @@ -23376,7 +23363,7 @@ http://identifiers.org/hgnc/21150 MONDO:0032680 "OMIM:618330" MONDO:0008605 "OMIM:190600 MESH:C536562 GARD:0005288 UMLS:C2931238" http://identifiers.org/hgnc/1160 -MONDO:0011007 "This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies." "OMIM:601163 GARD:0002397 SCTID:721095007 Orphanet:2141 MESH:C563380 ICD10:Q87.8" +MONDO:0011007 "This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies." "OMIM:601163 GARD:0002397 SCTID:721095007 Orphanet:2141 MESH:C563380 ICD10CM:Q87.8" MONDO:0010811 "A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow." "NCIT:C2897 ICD9:600 OMIM:600082 EFO:0000284 SCTID:266569009 ICD9:600.0 UMLS:C1704272 MESH:D011470 HP:0008711 ICD9:600.20 DOID:11132 DOID:2883" HP:0040006 "UMLS:C4022499" http://identifiers.org/hgnc/18620 @@ -23396,17 +23383,16 @@ UBERON:0001335 http://identifiers.org/hgnc/436 MONDO:0008604 "UMLS:C1860807 MESH:C566028 OMIM:190500" ECTO:0000173 "An exposure to corticosteroid." -MONDO:0018252 "ICD10:Q82.8 UMLS:CN204827 Orphanet:370002 OMIM:148700" +MONDO:0018252 "ICD10CM:Q82.8 UMLS:CN204827 Orphanet:370002 OMIM:148700" MONDO:0001634 "A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "NCIT:C6178 DOID:13109 UMLS:C1332560" MONDO:0002513 "A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." "EFO:1000111 DOID:3116 SCTID:92165001 NCIT:C4778 ICD9:223.0" -MONDO:0018186 "Aberrant chromosomes with no ends, i.e., circular." "Orphanet:363203 ICD10:Q93.2 NCIT:C3360 MESH:D012303" MONDO:0007402 "OMIM:123320" NCBITaxon:6300 "GC_ID:1" HP:0200067 "Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference." "UMLS:C3279439" GO:0002232 "The movement of an immune cell in response to an external stimulus contributing to an inflammatory response." MONDO:0006093 "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "UMLS:C1332340 EFO:1000094 NCIT:C6427" NCIT:C15329 "IMDRF:F19" -MONDO:0004909 "ICD10:N34.0 ICD9:597.0 SCTID:444820005 DOID:9877" +MONDO:0004909 "SCTID:444820005 ICD9:597.0 DOID:9877" http://identifiers.org/hgnc/18621 CL:0000456 MONDO:0007668 "UMLS:C1842009 OMIM:137900 MESH:C564229" @@ -23422,7 +23408,7 @@ MONDO:0008104 "Noonan syndrome caused by mutations in the PTPN11 gene." "DOID:00 MONDO:0006204 UBERON:0004931 CHEBI:26712 -MONDO:0010758 "A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability." "ICD10:G71.8 MESH:C537472 SCTID:722456001 Orphanet:85283 Orphanet:3454 SCTID:719012009 MESH:C536703 ICD10:Q87.8 DOID:0060815 OMIM:314580 GARD:0009984 GARD:0007890" +MONDO:0010758 "A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability." "ICD10CM:G71.8 MESH:C537472 ICD10CM:Q87.8 SCTID:722456001 Orphanet:85283 Orphanet:3454 SCTID:719012009 MESH:C536703 DOID:0060815 OMIM:314580 GARD:0009984 GARD:0007890" CHEBI:79389 "Any inorganic anion with a valency of one." UBERON:0002537 MONDO:0013401 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene." "DOID:0110803 UMLS:C3151056 GARD:0010999 OMIM:613744 Orphanet:280763" @@ -23433,7 +23419,7 @@ MONDO:0005494 "An invasive breast carcinoma which is negative for expression of MONDO:0009800 "Orphanet:2768 UMLS:C3151572 OMIM:259200" MONDO:0008174 "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene." "OMIM:167210 Orphanet:2309" MONDO:0016952 "Orphanet:262833 UMLS:C0795800 NCIT:C36521 GARD:0010831" -MONDO:0008673 "Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner." "SCTID:277807007 ICD9:520.8 ICD10:Q75.4 MESH:C536695 GARD:0000497 OMIM:193530 DOID:0111571 Orphanet:952 UMLS:C0457013" +MONDO:0008673 "Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner." "SCTID:277807007 ICD9:520.8 MESH:C536695 GARD:0000497 OMIM:193530 DOID:0111571 ICD10CM:Q75.4 Orphanet:952 UMLS:C0457013" GO:0034654 "The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids." MONDO:0005605 "A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity." "EFO:0006497 DOID:2670 UMLS:C0334266 NCIT:C4115 ICDO:8120/0" UBERON:0001338 @@ -23457,30 +23443,30 @@ MONDO:0022839 "GARD:0010328 UMLS:C0520783" MONDO:0006205 MONDO:0032681 "OMIM:618331" MONDO:0008868 "SCTID:235914003 UMLS:C0400972 MESH:C537726 OMIM:210550" -MONDO:0018250 "ICD10:Q82.8 UMLS:CN204824 Orphanet:369999 OMIM:148700" +MONDO:0018250 "ICD10CM:Q82.8 UMLS:CN204824 Orphanet:369999 OMIM:148700" MONDO:0041052 "SCTID:2177002 Orphanet:466673 UMLS:C0032768" MONDO:0000362 -MONDO:0020446 "Orphanet:99117 ICD10:Q21.1" +MONDO:0020446 "Orphanet:99117 ICD10CM:Q21.1" MONDO:0022841 "GARD:0001488" MONDO:0008636 "Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present." "OMIM:192050 SCTID:722431007 Orphanet:3411 MESH:C566010" NBO:0000339 "\"The coordination of combinations of body movements created with the kinematic (such as spatial direction) and kinetic (force) parameters that result in intended actions.\" [wikipedia:Motor_coordination]" HsapDv:0000120 "Adult stage that refers to an adultwho is over 26 and under 27." http://identifiers.org/hgnc/14082 -MONDO:0009727 "Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." "OMIM:256050 GARD:0008329 MESH:C535395 ICD10:Q77.5 SCTID:254055004 UMLS:C1850554 UMLS:C1850555 ICD9:756.9 Orphanet:56304" -MONDO:0011145 "OMIM:601794 UMLS:C1866256 MESH:C566623 Orphanet:363741 ICD10:Q87.8" +MONDO:0009727 "Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." "OMIM:256050 GARD:0008329 MESH:C535395 SCTID:254055004 UMLS:C1850554 UMLS:C1850555 ICD9:756.9 Orphanet:56304 ICD10CM:Q77.5" +MONDO:0011145 "OMIM:601794 UMLS:C1866256 MESH:C566623 Orphanet:363741 ICD10CM:Q87.8" UBERON:0002530 CHEBI:35344 MONDO:0020029 "OBSOLETE. Rare genetic heart disease." "UMLS:CN206954 Orphanet:98054" UBERON:0005290 MONDO:0014481 "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene." "Orphanet:294023 OMIM:616069 UMLS:C4015130" CL:0002503 "A cell of the adventitial layer of ductal structures such as the uterer, defent duct, biliary duct, etc" "FMA:84639 BTO:0002441" -MONDO:0008364 "An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease." "ICD9:443.0 SCTID:195295006 OMIM:179600 UMLS:C0034734 MESH:D011928 ICD10:I73.0 NCIT:C116359 DOID:10300 EFO:1001145" +MONDO:0008364 "An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease." "ICD9:443.0 SCTID:195295006 ICD10CM:I73.0 OMIM:179600 UMLS:C0034734 MESH:D011928 NCIT:C116359 DOID:10300 EFO:1001145" http://identifiers.org/hgnc/12786 MONDO:0021727 "Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.." "GARD:0005706 SCTID:93353003 UMLS:C2936828 MESH:C535555" MONDO:0030281 "OMIM:619334" UBERON:0001332 -MONDO:0015827 "Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." "OMIM:602722 Orphanet:18 GARD:0004667 OMIM:267300 OMIM:611590 ICD10:N25.8 MedDRA:10045224 HP:0008341 OMIMPS:179800 ICD9:588.89 OMIM:179800 SCTID:236461000" -MONDO:0020447 "Orphanet:99118 ICD10:Q21.1" +MONDO:0015827 "Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia." "OMIM:602722 Orphanet:18 GARD:0004667 OMIM:267300 OMIM:611590 MedDRA:10045224 HP:0008341 OMIMPS:179800 ICD10CM:N25.8 ICD9:588.89 OMIM:179800 SCTID:236461000" +MONDO:0020447 "Orphanet:99118 ICD10CM:Q21.1" HP:0010461 "Abnormality of the male genital system." "UMLS:C4023819" http://identifiers.org/hgnc/29659 MONDO:0000361 @@ -23490,15 +23476,15 @@ http://identifiers.org/hgnc/11588 GO:0051196 "OBSOLETE. Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme." CHEBI:88184 "Any metal which causes the onset of an allergic reaction." MAXO:0000647 "The use of synthetic or naturally-occurring chemicals for the treatment of diseases." -MONDO:0005260 "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." "MESH:D001321 OMIM:209850 EFO:0003758 DOID:12849 ICD10:F84.0 HP:0000717 NCIT:C97161 ICD9:299.0" +MONDO:0005260 "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." "MESH:D001321 OMIM:209850 EFO:0003758 DOID:12849 HP:0000717 NCIT:C97161 ICD9:299.0" MONDO:0006979 "A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)" "SCTID:33882007 EFO:1001191 DOID:4025 UMLS:C0038235 MESH:D013231" UBERON:0005291 MONDO:0024506 "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene." "OMIM:100300 Orphanet:974 UMLS:CN028867 UMLS:C0265268" MONDO:0019459 -MONDO:0013232 "Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD." "OMIM:613342 SCTID:715470008 GARD:0000960 UMLS:C2931420 Orphanet:2619 MESH:C537086 ICD10:Q77.7" +MONDO:0013232 "Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD." "OMIM:613342 SCTID:715470008 ICD10CM:Q77.7 GARD:0000960 UMLS:C2931420 Orphanet:2619 MESH:C537086" MONDO:0014650 "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13." "DOID:0060754 OMIM:616461 UMLS:C4225318 Orphanet:101046" ECTO:0000487 "An exposure to chemical role." -MONDO:0020448 "Orphanet:99119 ICD10:Q26.8" +MONDO:0020448 "Orphanet:99119 ICD10CM:Q26.8" MONDO:0004088 "An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm." "UMLS:C1511063 NCIT:C40189 DOID:7046" MONDO:0012343 "Orphanet:86 MESH:C565229 OMIM:609782 UMLS:C1853364" UBERON:0001331 @@ -23515,24 +23501,24 @@ MONDO:0000302 "A disease caused by infection with Basidiobolus." "UMLS:C0343965 UBERON:0002532 MONDO:0024503 "A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas)." "MESH:C535650 GARD:0002437 UMLS:CN197371 Orphanet:100092 NCIT:C27721" UBERON:0005292 -MONDO:0004777 "An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." "ICD10:J04.0 SCTID:6655004 ICD9:464.0 DOID:9396 NCIT:C26688 ICD9:464.01 UMLS:C0001327 ICD9:464.00" +MONDO:0004777 "An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." "SCTID:6655004 ICD9:464.0 ICD10CM:J04.0 DOID:9396 NCIT:C26688 ICD9:464.01 UMLS:C0001327 ICD9:464.00" http://identifiers.org/hgnc/697 -MONDO:0017602 "ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK)." "ICD10:C84.6 UMLS:C1332079 NCIT:C37193 Orphanet:300895 ICDO:9714/3" -MONDO:0002754 "A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients." "NCIT:C4002 ONCOTREE:EP DOID:3720 UMLS:C0278619 ICD10:C90.20 ICD9:203.80 ICDO:9734/3 SCTID:188718006 ICD10:C90.2" +MONDO:0017602 "ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK)." "UMLS:C1332079 NCIT:C37193 Orphanet:300895 ICDO:9714/3" +MONDO:0002754 "A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients." "ICD10CM:C90.2 NCIT:C4002 ONCOTREE:EP DOID:3720 UMLS:C0278619 ICD9:203.80 ICDO:9734/3 SCTID:188718006" http://identifiers.org/hgnc/12784 UBERON:0001334 MONDO:0020642 "A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis." "SCTID:82525005 MESH:D007690 DOID:0080322 NCIT:C75464 OMIMPS:173900" GO:0106122 "Any process that stops, prevents or reduces the frequency, rate or extent of a cobalamin metabolic process." -MONDO:0020449 "Orphanet:99120 ICD10:Q26.8" +MONDO:0020449 "Orphanet:99120 ICD10CM:Q26.8" MONDO:0014741 "OMIM:616708 UMLS:C4225239 UMLS:CN242167 Orphanet:466950" GO:0000904 "The change in form (cell shape and size) that occurs when relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history." -MONDO:0005814 "A malignant neoplasm involving the intestine" "NCIT:C4572 EFO:0007330 ICD10:C26.0 MESH:D007414 DOID:10155 ICD9:159.0 SCTID:363508008 UMLS:C0346627" +MONDO:0005814 "A malignant neoplasm involving the intestine" "NCIT:C4572 EFO:0007330 MESH:D007414 ICD9:159.0 DOID:10155 SCTID:363508008 UMLS:C0346627" GO:2001212 "Any process that modulates the frequency, rate or extent of vasculogenesis." -MONDO:0013311 "Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet." "OMIM:613573 OMIMPS:613573 ICD10:Q82.8 Orphanet:247820 UMLS:CN228599" +MONDO:0013311 "Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet." "OMIM:613573 ICD10CM:Q82.8 OMIMPS:613573 Orphanet:247820 UMLS:CN228599" HP:0003110 "An abnormality of the composition of urine or the levels of its components." "UMLS:C4025655" GO:0140513 "A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together in the nucleus." MONDO:0013543 "SCTID:190953007 ICD9:277.89 UMLS:C0268417 OMIM:614044" -MONDO:0017979 "Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." "MESH:D056735 ICD10:D89.82 OMIM:601859 MedDRA:10069521 SCTID:702444009 UMLS:C1328840 CSP:1560-5548 OMIM:615559 ICD10:D47.9 GARD:0008686 DOID:6688 ICD9:279.41 Orphanet:3261 OMIM:603909 NCIT:C37864" +MONDO:0017979 "Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." "MESH:D056735 OMIM:601859 MedDRA:10069521 SCTID:702444009 UMLS:C1328840 CSP:1560-5548 OMIM:615559 GARD:0008686 DOID:6688 ICD9:279.41 Orphanet:3261 OMIM:603909 NCIT:C37864 ICD10CM:D47.9" CHR:9606-chr8q22.1 UBERON:0035118 MONDO:0003963 "This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs." "SCTID:449784008 UMLS:C1333292 NCIT:C35699 DOID:6677" @@ -23540,7 +23526,7 @@ MONDO:0011775 "Any nasopharyngeal carcinoma in which the cause of the disease is http://identifiers.org/hgnc/430 GO:1904063 "Any process that stops, prevents or reduces the frequency, rate or extent of cation transmembrane transport." NCBITaxon:48796 "GC_ID:1" -MONDO:0013233 "Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging." "UMLS:C3150545 OMIM:613343 ICD10:Q77.7 Orphanet:99642" +MONDO:0013233 "Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging." "UMLS:C3150545 OMIM:613343 ICD10CM:Q77.7 Orphanet:99642" MONDO:0002057 "A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "NCIT:C40399 UMLS:C1511317 DOID:1623" MONDO:0006164 "A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability." "EFO:1000197 UMLS:C2826783 NCIT:C83176" UBERON:0001333 @@ -23551,160 +23537,160 @@ MONDO:0003486 "A squamous cell carcinoma characterized by the presence of cells MONDO:0024634 "A disease that involves the large intestine." "SCTID:119523007 UMLS:C0341321" GO:0045915 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving catecholamine." MONDO:0005796 "A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)" "UMLS:C0282616 EFO:0007311 MESH:D019053" -MONDO:0010947 "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava." "ICD9:453.0 MedDRA:10006537 UMLS:C0856761 MESH:D006502 ICD10:I82.0 OMIM:600880 Orphanet:131 GARD:0005968 SCTID:82385007" -MONDO:0018259 "Orphanet:370046 UMLS:CN204834 ICD10:Q84.8" +MONDO:0010947 "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava." "ICD9:453.0 MedDRA:10006537 UMLS:C0856761 MESH:D006502 OMIM:600880 Orphanet:131 ICD10CM:I82.0 GARD:0005968 SCTID:82385007" +MONDO:0018259 "Orphanet:370046 ICD10CM:Q84.8 UMLS:CN204834" OBI:0000684 "A objective specification to obtain a material entity for potential use as an input during an investigation." MONDO:0044657 "Orphanet:497757 OMIM:617017" -MONDO:0020442 "ICD9:747.49 Orphanet:99111 ICD10:Q26.1 SCTID:445436005" +MONDO:0020442 "ICD9:747.49 ICD10CM:Q26.1 Orphanet:99111 SCTID:445436005" GO:1900120 "Any process that modulates the frequency, rate or extent of a protein or other molecule binding to a receptor." MONDO:0003822 "A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas." "UMLS:C1518358 NCIT:C39831 DOID:6239" MONDO:0011149 "GARD:0004478 MESH:C566621 UMLS:C1866183 OMIM:601811" -MONDO:0006079 "A rare, cytologically malignant ameloblastoma that may metastasize." "EFO:1000078 UMLS:C1314678 Orphanet:314422 GARD:0011855 NCIT:C7492 ICD10:C41.1" +MONDO:0006079 "A rare, cytologically malignant ameloblastoma that may metastasize." "EFO:1000078 UMLS:C1314678 ICD10CM:C41.1 Orphanet:314422 GARD:0011855 NCIT:C7492" UBERON:0000397 PATO:0000647 "A structural quality inhering in a bearer by virtue of the bearer's undergoing unprogrammed cell death." -MONDO:0001312 "A acute transudative otitis media with thin, watery and sterile effusion." "ICD10:H65.00 ICD9:381.01 ICD10:H65.0 UMLS:C0155415 DOID:11557 SCTID:194240006" +MONDO:0001312 "A acute transudative otitis media with thin, watery and sterile effusion." "ICD9:381.01 ICD10CM:H65.0 UMLS:C0155415 DOID:11557 SCTID:194240006" MONDO:0019214 "An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process." "EFO:1000061 MESH:D002239 ICD9:271.8 NCIT:C97089 Orphanet:79161 DOID:2978 MedDRA:10061023" CHEBI:15022 "A molecular entity that can transfer an electron to another molecular entity." -MONDO:0017447 "Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome." "Orphanet:294988 ICD10:Q71.3" +MONDO:0017447 "Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome." "Orphanet:294988 ICD10CM:Q71.3" GO:0002444 "Any process involved in the carrying out of an immune response by a myeloid leukocyte." GO:0045823 "Any process that activates or increases the frequency, rate or extent of heart contraction." MONDO:0012346 "Orphanet:36387 DOID:0111293 OMIM:609800 UMLS:C1853345 MESH:C565227" MONDO:0022846 "GARD:0006177" NCBITaxon:48791 "GC_ID:1" MONDO:0005852 "Narrowing of the left atrioventricular mitral orifice." "DOID:1754 SCTID:79619009 NCIT:C50654 UMLS:C0026269 MESH:D008946 EFO:0007372" -MONDO:0009363 "Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." "MESH:C535770 OMIM:236660 GARD:0001666 ICD10:Q87.8 SCTID:732926009 UMLS:C1856051 Orphanet:2181" +MONDO:0009363 "Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." "MESH:C535770 OMIM:236660 GARD:0001666 SCTID:732926009 UMLS:C1856051 Orphanet:2181 ICD10CM:Q87.8" http://identifiers.org/hgnc/11326 NCBITaxon:471472 "GC_ID:11" -MONDO:0018280 "Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts." "Orphanet:370997 OMIM:616538 ICD10:G71.2" +MONDO:0018280 "Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts." "Orphanet:370997 OMIM:616538 ICD10CM:G71.2" MONDO:0044656 "UMLS:C1302848 Orphanet:497737 SCTID:400142003" -MONDO:0017705 "Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous." "Orphanet:3090 ICD10:Q26.4 GARD:0004599 ICD10:Q26.2 UMLS:C0036400 ICD10:Q26.3 OMIM:106700" +MONDO:0017705 "Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous." "Orphanet:3090 GARD:0004599 ICD10CM:Q26.3 UMLS:C0036400 ICD10CM:Q26.4 OMIM:106700 ICD10CM:Q26.2" NCBITaxon:7509 "GC_ID:1" http://identifiers.org/hgnc/13723 MONDO:0023243 "The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder." "UMLS:C4303810 SCTID:720814001 GARD:0002479 Orphanet:1535" GO:0009156 "The chemical reactions and pathways resulting in the formation of a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar." UBERON:0000398 -MONDO:0015275 "Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea." "GARD:0004229 ICD10:Q21.2 SCTID:718216009 Orphanet:1330 OMIM:600309 MESH:C536112" +MONDO:0015275 "Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea." "GARD:0004229 SCTID:718216009 ICD10CM:Q21.2 Orphanet:1330 OMIM:600309 MESH:C536112" MONDO:0000652 "A benign neoplasm that involves the integumental system." "DOID:0060121" MONDO:0014063 "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene." "OMIM:615157 UMLS:C3554605 Orphanet:1460 DOID:0060351" UBERON:0001593 -MONDO:0018109 "Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV." "ICD10:K72 Orphanet:35063" +MONDO:0018109 "Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV." "Orphanet:35063 ICD10CM:K72" MONDO:0019297 "Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes." "MedDRA:10025282 NCIT:C3207 DOID:4977 SCTID:234097001 UMLS:C0024236 MESH:D008209 ICD9:457.1 Orphanet:79383 GARD:0012563" -MONDO:0004979 "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety." "ICD10:J45.909 ICD9:493 KEGG:05310 UMLS:C0004096 DOID:2841 ICD9:493.81 SCTID:31387002 OMIM:600807 OMIM:611960 ICD10:J45 OMIM:608584 EFO:0000270 HP:0002099 OMIM:611064 OMIM:607277 GARD:0010246 ICD9:493.9 MESH:D001249 NCIT:C28397 ICD10:J45.90" -MONDO:0024377 "A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle." "SCTID:28011000119104 ICD10:G47.21 UMLS:C0393770 SCTID:80623000 DOID:0111141" +MONDO:0004979 "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety." "ICD10CM:J45 ICD9:493 KEGG:05310 UMLS:C0004096 DOID:2841 ICD9:493.81 SCTID:31387002 OMIM:600807 OMIM:611960 OMIM:608584 EFO:0000270 HP:0002099 OMIM:611064 OMIM:607277 GARD:0010246 ICD9:493.9 MESH:D001249 NCIT:C28397" +MONDO:0024377 "A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle." "SCTID:28011000119104 UMLS:C0393770 ICD10CM:G47.21 SCTID:80623000 DOID:0111141" MONDO:0000409 "A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion." "MESH:D002821 DOID:0050697 NCIT:C26720 SCTID:11612004" MONDO:0012347 "MESH:C565226 OMIM:609808 UMLS:C1853298" MONDO:0003251 "A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003" "UMLS:C1333448 NCIT:C5700 DOID:5040" GO:0045920 "Any process that stops, prevents, or reduces the frequency, rate or extent of exocytosis." MONDO:0022843 "GARD:0001498" -MONDO:0009519 "A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia." "MedDRA:10024265 NCIT:C3160 ICDO:9754/3 OMIM:246400 UMLS:C0023381 Orphanet:99870 ICD10:C96.0" +MONDO:0009519 "A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia." "MedDRA:10024265 NCIT:C3160 ICDO:9754/3 OMIM:246400 UMLS:C0023381 Orphanet:99870" GO:0002182 "The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in the cytoplasm." -MONDO:0012830 "10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive." "Orphanet:276413 DOID:0060389 OMIM:612242 Orphanet:2929 MESH:C567385 UMLS:CN202618 Orphanet:79076 UMLS:C2677102 ICD10:Q93.5 GARD:0013018" +MONDO:0012830 "10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive." "Orphanet:276413 DOID:0060389 OMIM:612242 Orphanet:2929 ICD10CM:Q93.5 MESH:C567385 UMLS:CN202618 Orphanet:79076 UMLS:C2677102 GARD:0013018" MONDO:0044655 "Orphanet:497623" UBERON:0000395 CHEBI:26708 -MONDO:0021645 "SCTID:17709002 ICD9:456.0 ICD10:I85.01 ICD10:I85.0" -MONDO:0006594 "Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus" "DOID:9182 NCIT:C34909 Wikipedia:Pemphigus ICD10:L10.9 ICD9:694.4 UMLS:C0030807 EFO:1000749 GARD:0007352 SCTID:65172003 ICD10:L10 MESH:D010392" +MONDO:0021645 "ICD10CM:I85.0 ICD10CM:I85.01 ICD9:456.0 SCTID:17709002" +MONDO:0006594 "Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus" "DOID:9182 NCIT:C34909 Wikipedia:Pemphigus ICD10CM:L10 ICD9:694.4 UMLS:C0030807 EFO:1000749 GARD:0007352 SCTID:65172003 MESH:D010392" http://identifiers.org/hgnc/14921 MONDO:0010127 "An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome." "Orphanet:99867 MESH:C564767 UMLS:C1848814 OMIM:274230" GO:0032729 "Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon." UBERON:0001330 MONDO:0006972 "A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." "DOID:4374 SCTID:61233003 EFO:1001182 MESH:D012832 UMLS:C0037120" -MONDO:0010168 "A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa." "GARD:0005435 DOID:0110826 OMIM:606943 OMIM:602097 OMIM:276900 OMIM:614990 SCTID:232057003 OMIM:276904 OMIM:601067 OMIM:612632 NCIT:C126327 OMIM:602083 OMIM:614869 ICD10:H35.5 Orphanet:231169 GARD:0005436 Orphanet:886" +MONDO:0010168 "A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa." "GARD:0005435 DOID:0110826 OMIM:606943 OMIM:602097 OMIM:276900 OMIM:614990 SCTID:232057003 OMIM:276904 OMIM:601067 OMIM:612632 ICD10CM:H35.5 NCIT:C126327 OMIM:602083 OMIM:614869 Orphanet:231169 GARD:0005436 Orphanet:886" GO:0060037 "The process whose specific outcome is the progression of the pharyngeal system over time, from its formation to the mature structure. The pharyngeal system is a transient embryonic complex that is specific to vertebrates. It comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming: the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear." MONDO:0010133 "Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase." "UMLS:C1291299 SCTID:124204003 MESH:C563206 Orphanet:95716 OMIM:274500 NCIT:C121750 ICD9:277.6" -MONDO:0018258 "ICD10:Q82.5 UMLS:CN204833 Orphanet:370039" +MONDO:0018258 "ICD10CM:Q82.5 UMLS:CN204833 Orphanet:370039" CL:0000566 "A mesenchymal stem cell capable of developing into blood vessel endothelium." -MONDO:0014209 "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis." "OMIM:615491 ICD10:G31.8 UMLS:C3809665 Orphanet:352654" -MONDO:0016850 "Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported." "ICD10:H35.5 UMLS:CN202196 Orphanet:261501 SCTID:733626002 UMLS:C4518083" +MONDO:0014209 "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis." "OMIM:615491 UMLS:C3809665 Orphanet:352654 ICD10CM:G31.8" +MONDO:0016850 "Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported." "ICD10CM:H35.5 UMLS:CN202196 Orphanet:261501 SCTID:733626002 UMLS:C4518083" MONDO:0002227 "A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected." "NCIT:C40021 UMLS:C1518720 DOID:2150" MONDO:0001907 "Dermatomyositis in an adult." "SCTID:402425006 NCIT:C27313 DOID:14202" -MONDO:0021644 "ICD9:456.1 ICD10:I85.00 ICD10:I85.9 SCTID:14223005 UMLS:C0267092" +MONDO:0021644 "ICD9:456.1 ICD10CM:I85.00 SCTID:14223005 UMLS:C0267092" GO:1904319 "Any process that stops, prevents or reduces the frequency, rate or extent of smooth muscle contraction involved in micturition." -MONDO:0004648 "A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions." "DOID:8725 MESH:D015161 UMLS:C0011269 NCIT:C34525 SCTID:429998004 MESH:D015140 SCTID:56267009 ICD9:290.4 ICD10:F01.5 EFO:0004718 ICD10:F01 NCIT:C34522" +MONDO:0004648 "A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions." "DOID:8725 MESH:D015161 UMLS:C0011269 NCIT:C34525 SCTID:429998004 MESH:D015140 SCTID:56267009 ICD9:290.4 EFO:0004718 NCIT:C34522" MONDO:0007938 "Sex reversal in an individual associated with a 9p24.3 deletion." "NCIT:C132270 MESH:C567887 Orphanet:251510 OMIM:154230 Orphanet:242 DOID:0111771" NCBITaxon:6308 "GC_ID:1" -MONDO:0005648 "Dysfunction of the aortic valve characterized by incomplete valve closure." "NCIT:C51223 EFO:0007148 UMLS:C0003504 SCTID:78031003 ICD9:396.3 ICD9:395.1 MESH:D001022 UMLS:C0155568 DOID:57 ICD10:I06.1" +MONDO:0005648 "Dysfunction of the aortic valve characterized by incomplete valve closure." "NCIT:C51223 EFO:0007148 UMLS:C0003504 SCTID:78031003 ICD9:396.3 ICD9:395.1 MESH:D001022 UMLS:C0155568 DOID:57 ICD10CM:I06.1" HP:0031375 "Applies to a sign or symptom that is difficult to treat or cure." -MONDO:0019557 "A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative." "Orphanet:90280 UMLS:CN239336 MedDRA:10025141 OMIM:610448 UMLS:C0024145 ICD10:L93.2 DOID:0060386 OMIM:614415" -MONDO:0016651 "Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "Orphanet:251009 ICD10:Q99.8" +MONDO:0019557 "A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative." "Orphanet:90280 UMLS:CN239336 MedDRA:10025141 OMIM:610448 UMLS:C0024145 ICD10CM:L93.2 DOID:0060386 OMIM:614415" +MONDO:0016651 "Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "Orphanet:251009 ICD10CM:Q99.8" GO:1905940 "Any process that stops, prevents or reduces the frequency, rate or extent of gonad development." http://identifiers.org/hgnc/11581 MONDO:0004061 MONDO:0000104 "OMIMPS:206100 MESH:C567144 UMLS:C2673913" MONDO:0013337 "A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24." "Orphanet:36386 UMLS:C3150896 OMIM:613640 DOID:0070157" -MONDO:0007604 "Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." "Orphanet:1988 ICD10:Q87.8 OMIM:134780 ICD9:759.89 MESH:C537916 GARD:0000061 SCTID:13280000" -MONDO:0014672 "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene." "ICD10:Q78.0 OMIM:616507 Orphanet:216820 UMLS:C4225301 DOID:0110338" +MONDO:0007604 "Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." "Orphanet:1988 OMIM:134780 ICD9:759.89 MESH:C537916 GARD:0000061 ICD10CM:Q87.8 SCTID:13280000" +MONDO:0014672 "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene." "ICD10CM:Q78.0 OMIM:616507 Orphanet:216820 UMLS:C4225301 DOID:0110338" http://identifiers.org/hgnc/10383 http://identifiers.org/hgnc/5962 HP:0009887 "An abnormality of hair pigmentation (color)." "UMLS:C4024172" MONDO:0016447 "White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region." "UMLS:CN226935 Orphanet:228290" http://identifiers.org/hgnc/691 MONDO:0006025 "Autosomal recessive form of disease." "DOID:0050737 UMLS:C0265388 ICD9:758.5 EFO:1000017 SCTID:85995004" -MONDO:0010080 "The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." "OMIM:271930 UMLS:C0795996 OMIM:500003 GARD:0010665 UMLS:CN201303 Orphanet:1576 ICD10:G23.2 Orphanet:225154" +MONDO:0010080 "The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." "OMIM:271930 UMLS:C0795996 OMIM:500003 GARD:0010665 UMLS:CN201303 Orphanet:1576 Orphanet:225154 ICD10CM:G23.2" MONDO:0044652 "Orphanet:496790" CL:0000525 "A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo, directly associated with the maternal blood supply. It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy." "FMA:83043" -MONDO:0007688 "Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients." "MESH:C537620 GARD:0002572 SCTID:699316006 OMIM:139210 ICD10:Q87.8 Orphanet:2588 NCIT:C123815 ICD9:759.89 UMLS:C0796081" +MONDO:0007688 "Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients." "MESH:C537620 GARD:0002572 SCTID:699316006 OMIM:139210 Orphanet:2588 NCIT:C123815 ICD9:759.89 UMLS:C0796081 ICD10CM:Q87.8" HP:0001649 "A rapid heartrate that exceeds the range of the normal resting heartrate for age." "SNOMEDCT_US:3424008 UMLS:C4020868 MSH:D013610 UMLS:C0039231 SNOMEDCT_US:86651002" MONDO:0006419 "A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion." "EFO:1000536 UMLS:C1335999 NCIT:C27462" MONDO:0002500 -MONDO:0001718 "Inflammation of the sclera." "NCIT:C119046 ICD9:379.00 MESH:D015423 ICD10:H15.00 GARD:0012911 ICD10:H15.0 UMLS:C0036416 HP:0100532 SCTID:78370002 DOID:13452" +MONDO:0001718 "Inflammation of the sclera." "NCIT:C119046 ICD9:379.00 MESH:D015423 GARD:0012911 UMLS:C0036416 HP:0100532 SCTID:78370002 DOID:13452" MONDO:0000103 NCBITaxon:92860 "GC_ID:1" http://identifiers.org/hgnc/5961 -MONDO:0014467 "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene." "ICD10:G60.0 Orphanet:435998 DOID:0110203 OMIM:616039 UMLS:C4015029" -MONDO:0019861 "Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "Orphanet:95720 OMIM:218700 MedDRA:10065938 ICD10:E03.1 OMIM:225250" +MONDO:0014467 "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene." "Orphanet:435998 ICD10CM:G60.0 DOID:0110203 OMIM:616039 UMLS:C4015029" +MONDO:0019861 "Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "Orphanet:95720 OMIM:218700 MedDRA:10065938 ICD10CM:E03.1 OMIM:225250" UBERON:0000391 MONDO:0003961 MONDO:0044651 "Orphanet:496756" MONDO:0005061 "A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor." "EFO:0005288 NCIT:C3512 MESH:C538231 EFO:0000571 UMLS:C0152013 DOID:3910 SCTID:254626006 OMIM:211980 ONCOTREE:LUAD Orphanet:415268 GARD:0005742" -MONDO:0009114 "A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose." "NCIT:C128190 Orphanet:35122 DOID:0111633 SCTID:78373000 ICD10:E74.3 UMLS:C1283620 OMIM:222900 MedDRA:10066387 GARD:0006183 ICD9:271.3 MESH:C538139 GARD:0007710" +MONDO:0009114 "A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose." "NCIT:C128190 Orphanet:35122 DOID:0111633 SCTID:78373000 ICD10CM:E74.3 UMLS:C1283620 OMIM:222900 MedDRA:10066387 GARD:0006183 ICD9:271.3 MESH:C538139 GARD:0007710" UBERON:0014505 -MONDO:0015724 "Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated." "SCTID:764996009 ICD10:Q92.3 Orphanet:1702" +MONDO:0015724 "Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated." "SCTID:764996009 Orphanet:1702" SO:0001506 "A collection of sequences (often chromosomes) of an individual." GO:1905652 "Any process that stops, prevents or reduces the frequency, rate or extent of artery morphogenesis." -MONDO:0006683 "A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand." "UMLS:C0700251 SCTID:3548001 MESH:D020516 DOID:3690 ICD9:353.0 EFO:1000844 NCIT:C27194 ICD10:G54.0" -MONDO:0002419 "A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause." "ICD9:307.21 SCTID:56573006 MESH:D013981 NCIT:C116767 ICD10:F95.0 DOID:2768" +MONDO:0006683 "A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand." "UMLS:C0700251 SCTID:3548001 MESH:D020516 DOID:3690 ICD9:353.0 EFO:1000844 NCIT:C27194" +MONDO:0002419 "A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause." "ICD9:307.21 SCTID:56573006 MESH:D013981 NCIT:C116767 ICD10CM:F95.0 DOID:2768" GO:0044212 MONDO:0000102 GO:1900392 "OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in regulation of transport." UBERON:0001592 GO:0032892 "Any process that activates or increases the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." http://identifiers.org/hgnc/5960 -MONDO:0019622 "Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia." "SCTID:129452008 NCIT:C35717 DOID:2801 ICD10:J84.8 ICD9:516.8 Orphanet:91364 UMLS:C1290344" +MONDO:0019622 "Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia." "SCTID:129452008 NCIT:C35717 DOID:2801 ICD9:516.8 Orphanet:91364 UMLS:C1290344 ICD10CM:J84.8" NCBITaxon:11146 "GC_ID:1" GO:0000098 "The chemical reactions and pathways resulting in the breakdown of amino acids containing sulfur, comprising cysteine, methionine and selenocysteine." MONDO:0005261 -MONDO:0019339 "47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder." "SCTID:50749006 NCIT:C85237 GARD:0005674 ICD10:Q98.5 Orphanet:8 MESH:C535317 MedDRA:10056894" -MONDO:0001565 "SCTID:79195003 UMLS:C0155010 ICD10:H53.31 ICD9:368.34 DOID:12668" -MONDO:0005569 "OBSOLETE. Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." "SCTID:50927007 EFO:0005802 DOID:1222 ICD9:733.99 ICD10:M91-M94 MESH:D002357 UMLS:C0007302 ICD10:M94.9" +MONDO:0019339 "47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder." "SCTID:50749006 NCIT:C85237 GARD:0005674 Orphanet:8 MESH:C535317 MedDRA:10056894" +MONDO:0001565 "SCTID:79195003 UMLS:C0155010 ICD9:368.34 ICD10CM:H53.31 DOID:12668" +MONDO:0005569 "OBSOLETE. Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." "SCTID:50927007 EFO:0005802 DOID:1222 ICD9:733.99 MESH:D002357 UMLS:C0007302" MONDO:0021633 "An astrocytoma that arises from the cerebral hemispheres." "NCIT:C4951 SCTID:99131000119108" MONDO:0002074 "Arthropathy resulting from Behcet's syndrome." "ICD9:711.20 UMLS:C0157770 ICD9:711.26 ICD9:711.23 DOID:1670 NCIT:C35225 ICD9:711.28 ICD9:711.2 SCTID:62918002" MONDO:0014006 "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed." "OMIM:615009 NCIT:C150555 Orphanet:329224 GARD:0013043 UMLS:C3554343 DOID:0070047" MONDO:0006417 "A diffuse large B-cell lymphoma that arises from the small intestine." "EFO:1000534 UMLS:C3272522 NCIT:C96055" -MONDO:0002178 "A malignant neoplasm involving the placenta." "ICD9:239.5 DOID:2021 SCTID:126920004 NCIT:C3555 ICD9:181 UMLS:C0153572 ICD10:C58" +MONDO:0002178 "A malignant neoplasm involving the placenta." "ICD9:239.5 DOID:2021 SCTID:126920004 NCIT:C3555 ICD9:181 UMLS:C0153572" UBERON:0001591 MONDO:0000101 MONDO:0002544 "A oligodendroglioma that involves the brain." "DOID:3187 NCIT:C9377 UMLS:C0346286 SCTID:254940005" HP:0000505 "Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery." "MSH:D014786 SNOMEDCT_US:246635007 SNOMEDCT_US:7973008 MSH:D015354 UMLS:C3665347 UMLS:C0042798 SNOMEDCT_US:397540003" -MONDO:0015302 "Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome." "GARD:0010562 UMLS:C0546394 UMLS:C4274331 MedDRA:10056953 SCTID:716704007 ICD10:E85.4+ ICD10:L99.0* Orphanet:137810" -MONDO:0012104 "A lipodystrophy characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs." "NCIT:C129723 UMLS:C0220989 ICD10:E88.1 MESH:C562448 Orphanet:79087 SCTID:75659004 GARD:0010509" +MONDO:0015302 "Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome." "GARD:0010562 ICD10EXP:L99.0* ICD10EXP:E85.4+ UMLS:C0546394 UMLS:C4274331 MedDRA:10056953 SCTID:716704007 Orphanet:137810" +MONDO:0012104 "A lipodystrophy characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs." "NCIT:C129723 UMLS:C0220989 MESH:C562448 Orphanet:79087 SCTID:75659004 ICD10CM:E88.1 GARD:0010509" GO:0062023 "An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells." CL:0000185 "Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament." "BTO:0002309 FMA:67799 CALOHA:TS-2379" MONDO:0011141 "OMIM:601775 UMLS:C2749656" -MONDO:0017174 "Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs." "SCTID:91953003 ICD10:G11.8 Orphanet:276238" +MONDO:0017174 "Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs." "SCTID:91953003 ICD10CM:G11.8 Orphanet:276238" UBERON:0014769 -MONDO:0001067 "Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly." "ICD9:102.6 SCTID:23191004 DOID:10568 ICD10:A66.0 ICD10:A66.6 ICD9:102.2 ICD9:102.0 NCIT:C41352 UMLS:C0275998" +MONDO:0001067 "Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly." "ICD9:102.6 SCTID:23191004 DOID:10568 ICD9:102.2 ICD9:102.0 NCIT:C41352 UMLS:C0275998" NCBITaxon:39054 "GC_ID:1" MONDO:0005954 "Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A." "MESH:D012610 EFO:0007479 DOID:12927" CL:0002371 "A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell)." "FMA:72300 BTO:0001268 WBbt:0008378" MONDO:0000366 MONDO:0000100 MONDO:0003474 "A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)" "UMLS:C1370500 NCIT:C6903 DOID:5504" -MONDO:0008599 "Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches." "EFO:1001219 MedDRA:10044652 ICD9:350.1 ICD10:G50.0 MESH:D014277 DOID:12098 SCTID:31681005 Orphanet:221091 GARD:0007805 UMLS:C0040997 OMIM:190400" +MONDO:0008599 "Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches." "EFO:1001219 MedDRA:10044652 ICD9:350.1 MESH:D014277 DOID:12098 SCTID:31681005 Orphanet:221091 GARD:0007805 ICD10CM:G50.0 UMLS:C0040997 OMIM:190400" http://identifiers.org/hgnc/10387 MONDO:0002512 "A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma." "DOID:3112 ICDO:8260/3 UMLS:C0001420 UMLS:C1321863 MESH:D000231 NCIT:C2853" -MONDO:0001099 "Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice." "ICD10:N64.89 ICD9:611.5 GARD:0008401 SCTID:42385006 MESH:C535998 NCIT:C3515 DOID:10686" -MONDO:0000748 "Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process." "DOID:0060322 ICD9:383.9 ICD10:H70.9 NCIT:C128368 SCTID:52404001 ICD10:H70.90 HP:0000265 UMLS:C0024904 MESH:D008417" +MONDO:0001099 "Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice." "GARD:0008401 ICD9:611.5 SCTID:42385006 MESH:C535998 NCIT:C3515 DOID:10686" +MONDO:0000748 "Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process." "DOID:0060322 ICD9:383.9 NCIT:C128368 SCTID:52404001 HP:0000265 UMLS:C0024904 MESH:D008417" GO:0002791 "Any process that modulates the frequency, rate, or extent of peptide secretion." UBERON:0014768 MONDO:0100380 "Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)" "NCIT:C36365" @@ -23712,11 +23698,11 @@ http://identifiers.org/hgnc/12782 MONDO:0100265 "Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene." MONDO:0013821 "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene." "DOID:0070046 Orphanet:1465 OMIM:614609 UMLS:C3553249" MONDO:0025381 "A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere." "MESH:D001353 UMLS:C0004421" -MONDO:0010684 "X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings." "SCTID:719815005 GARD:0003892 UMLS:C2931230 ICD10:G71.8 UMLS:C1839615 OMIM:310440 MESH:C536522 DOID:0050760 Orphanet:25980" +MONDO:0010684 "X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings." "SCTID:719815005 GARD:0003892 UMLS:C2931230 UMLS:C1839615 OMIM:310440 ICD10CM:G71.8 MESH:C536522 DOID:0050760 Orphanet:25980" MONDO:0011140 MONDO:0044033 "An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment." "MESH:D054038 NCIT:C78598 SCTID:450886002 EFO:1001804" MONDO:0043885 "An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." "NCIT:C45372 SCTID:128351009 UMLS:C0015403 MESH:D015817" -MONDO:0002345 "An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge." "SCTID:37610005 NCIT:C26716 HP:0030160 ICD9:616.0 MESH:D002575 ICD10:N72 DOID:2568" +MONDO:0002345 "An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge." "SCTID:37610005 HP:0030160 ICD9:616.0 NCIT:C26716 MESH:D002575 DOID:2568" UBERON:0000390 http://identifiers.org/hgnc/11584 MONDO:0003495 "A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor." "DOID:5532 NCIT:C40092 UMLS:C1518739" @@ -23729,83 +23715,82 @@ HP:0002607 "Involuntary fecal soiling in adults and children who have usually al UBERON:0017261 GO:0016421 "Catalysis of the joining of a carboxyl group to a molecule that is attached to CoA, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate." MONDO:0011280 "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21." "DOID:0070082 UMLS:C1864275 OMIM:603013" -MONDO:0011001 "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene." "DOID:0110218 OMIM:601144 ICD10:I49.8 Orphanet:130 UMLS:CN029323 UMLS:C1142166" -MONDO:0001562 "ICD10:Q40.1 SCTID:47028006 DOID:12641 ICD9:750.6" +MONDO:0011001 "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene." "DOID:0110218 OMIM:601144 Orphanet:130 UMLS:CN029323 UMLS:C1142166" +MONDO:0001562 "SCTID:47028006 DOID:12641 ICD9:750.6 ICD10CM:Q40.1" MONDO:0000364 MONDO:0012340 "OMIM:609754" -MONDO:0004684 "A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." "NCIT:C4680 MESH:C537000 DOID:8936 ICD10:M72.2 SCTID:13370002 EFO:1000481 ICD9:728.71" -MONDO:0000704 "Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples." "EFO:1001294 SCTID:31437008 MedDRA:10025268 ICD10:K52.832 NCIT:C27147 GARD:0006939 Orphanet:65279 UMLS:C0400822 DOID:0060184 ICD10:K52.89 MESH:D046730 ICD9:558.9" +MONDO:0004684 "A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." "NCIT:C4680 MESH:C537000 DOID:8936 SCTID:13370002 EFO:1000481 ICD9:728.71" +MONDO:0000704 "Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples." "EFO:1001294 SCTID:31437008 MedDRA:10025268 NCIT:C27147 GARD:0006939 Orphanet:65279 UMLS:C0400822 ICD10CM:K52.832 DOID:0060184 MESH:D046730 ICD9:558.9" MONDO:0033619 "OMIM:619036" UBERON:0014766 -MONDO:0015364 "An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome." "ICD10:G60.8 OMIM:615548 OMIM:614653 SCTID:11442006 OMIM:608088 OMIM:256800 OMIM:615632 UMLS:C0027889 Orphanet:140471 OMIM:613640 OMIM:256860 OMIM:616488 OMIM:614213 MESH:D009477 OMIM:613115 OMIMPS:162400 OMIM:310470 OMIM:613708 OMIM:162400 ICD9:356.2 OMIM:608654 NCIT:C125386 GARD:0012688 OMIM:614116 DOID:0050548 OMIM:201300" +MONDO:0015364 "An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome." "OMIM:615548 OMIM:614653 SCTID:11442006 OMIM:608088 OMIM:256800 OMIM:615632 UMLS:C0027889 Orphanet:140471 OMIM:613640 OMIM:256860 OMIM:616488 OMIM:614213 MESH:D009477 ICD10CM:G60.8 OMIM:613115 OMIMPS:162400 OMIM:310470 OMIM:613708 OMIM:162400 ICD9:356.2 OMIM:608654 NCIT:C125386 GARD:0012688 OMIM:614116 DOID:0050548 OMIM:201300" MONDO:0025494 "A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048)" "MESH:D019318 UMLS:C0376538" GO:0031668 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus." -MONDO:0016010 "A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly." "SCTID:38323006 GARD:0008580 ICD9:759.89 UMLS:C0265374 ICD10:Q86.2 MedDRA:10051445 MESH:C536683 Orphanet:1914 NCIT:C98906" +MONDO:0016010 "A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly." "SCTID:38323006 GARD:0008580 ICD9:759.89 ICD10CM:Q86.2 UMLS:C0265374 MedDRA:10051445 MESH:C536683 Orphanet:1914 NCIT:C98906" GO:0002445 "An inflammatory response resulting in cell death or dysfunction mediated by activation of the classical complement pathway or induction of effector cell phagocytosis, cytolysis mechanisms via complement or Fc receptors following the binding of antibodies to cell surface antigens on a target cell, or mediated by the direct binding of antibody to cellular receptors." GO:0034399 "The portion of the nuclear lumen proximal to the inner nuclear membrane." -MONDO:0009279 "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." "SCTID:45414006 OMIM:231550 GARD:0000457 EFO:1001997 ICD10:E27.4 ICD9:255.41 NCIT:C131005 Orphanet:869 MESH:C536008 OMIM:615510 DOID:0050602" +MONDO:0009279 "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." "SCTID:45414006 ICD10CM:E27.4 OMIM:231550 GARD:0000457 EFO:1001997 ICD9:255.41 NCIT:C131005 Orphanet:869 MESH:C536008 OMIM:615510 DOID:0050602" CL:0002564 "A connective tissue cell of the nucleus pulposus cell of intervertebral disc." GO:0043549 "Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule." GO:0009746 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus." -MONDO:0005715 "Toxoplasma infection that is present from birth." "ICD9:771.2 EFO:0007220 SCTID:73893000 Orphanet:858 ICD10:P37.1 MESH:D014125 GARD:0010326 DOID:13336 NCIT:C50503 MedDRA:10010652 UMLS:C0040560" +MONDO:0005715 "Toxoplasma infection that is present from birth." "ICD9:771.2 ICD10CM:P37.1 EFO:0007220 SCTID:73893000 Orphanet:858 MESH:D014125 GARD:0010326 DOID:13336 NCIT:C50503 MedDRA:10010652 UMLS:C0040560" MONDO:0043247 "A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics." "NCIT:C84881 GARD:0006967 MESH:D008309 UMLS:C0024633 SCTID:35265002" http://identifiers.org/hgnc/11582 MONDO:0014638 "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene." "OMIM:616435 UMLS:C4084840 DOID:0111081" -MONDO:0000271 "An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube." "DOID:0050166 ICD9:016.60 ICD9:016.6 SCTID:49558004 UMLS:C0275933 ICD10:A18.17" +MONDO:0000271 "An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube." "DOID:0050166 ICD9:016.60 ICD9:016.6 SCTID:49558004 UMLS:C0275933" http://identifiers.org/hgnc/3309 HP:0010550 "Severe or complete weakness of both lower extremities with sparing of the upper extremities." "UMLS:C0030486 SNOMEDCT_US:60389000 MSH:D010264" -MONDO:0013993 "Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." "SCTID:718605009 OMIM:614969 UMLS:C3554226 Orphanet:284339 DOID:0060276 ICD10:Q04.3" -MONDO:0001103 "An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact." "DOID:10718 MESH:D005873 ICD9:007.1 UMLS:C0017536 SCTID:10679007 ICD10:A07.1" +MONDO:0013993 "Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." "SCTID:718605009 OMIM:614969 UMLS:C3554226 ICD10CM:Q04.3 Orphanet:284339 DOID:0060276" +MONDO:0001103 "An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact." "DOID:10718 MESH:D005873 ICD9:007.1 UMLS:C0017536 SCTID:10679007" MONDO:0006859 "A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung." "ICDO:8470/0 UMLS:C0010635 MESH:D018291 NCIT:C2973 ICDO:8480/0 EFO:1001048" http://identifiers.org/hgnc/4507 HP:0000025 "UMLS:C4025898" GO:0050909 "The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells. This is a neurological process." -MONDO:0007318 "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys." "Orphanet:52 DOID:9245 UMLS:C0085280 OMIMPS:118450 ICD9:759.89 MedDRA:10053870 NCIT:C35139 OMIM:610205 ICD10:Q44.7 GARD:0000804 MESH:D016738 SCTID:31742004 OMIM:118450" +MONDO:0007318 "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys." "Orphanet:52 ICD10CM:Q44.7 DOID:9245 UMLS:C0085280 OMIMPS:118450 ICD9:759.89 MedDRA:10053870 NCIT:C35139 OMIM:610205 GARD:0000804 MESH:D016738 SCTID:31742004 OMIM:118450" MONDO:0033618 "OMIM:619033" UBERON:0014501 UBERON:0014767 MONDO:0004962 "Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus." "EFO:0000206" -MONDO:0009595 "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth." "ICD10:Q78.8 OMIM:250460 OMIM:250250 NCIT:C61245 SCTID:7720002 Orphanet:175 MESH:C535916 GARD:0006996 MedDRA:10069596 DOID:14773 UMLS:C0220748" -MONDO:0009998 "Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive." "UMLS:C1849348 GARD:0004718 SCTID:723998001 Orphanet:3102 MESH:C535677 OMIM:268305 ICD10:Q87.8" +MONDO:0009595 "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth." "OMIM:250460 OMIM:250250 ICD10CM:Q78.8 NCIT:C61245 SCTID:7720002 Orphanet:175 MESH:C535916 GARD:0006996 MedDRA:10069596 DOID:14773 UMLS:C0220748" +MONDO:0009998 "Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive." "UMLS:C1849348 GARD:0004718 ICD10CM:Q87.8 SCTID:723998001 Orphanet:3102 MESH:C535677 OMIM:268305" NCBITaxon:11149 "GC_ID:1" MONDO:0015219 "A central nervous system malformation that is not part of a larger syndrome." "Orphanet:108989" MONDO:0007674 "OMIM:138110" http://identifiers.org/hgnc/5959 MONDO:0006033 "A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis." "ONCOTREE:DIPG Orphanet:497188 UMLS:C2986658 EFO:1000026 NCIT:C94764 GARD:0013075" NCBITaxon:186634 "GC_ID:1" -MONDO:0014871 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene." "OMIM:617023 DOID:0110361 ICD10:H35.5 UMLS:C4310759" +MONDO:0014871 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene." "OMIM:617023 DOID:0110361 UMLS:C4310759" UBERON:0005028 UBERON:0007689 -MONDO:0007955 "A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction." "NCIT:C12264 ICD10:Q43.0 DOID:9487 OMIM:155140 MESH:D008467 EFO:1001036 SCTID:37373007 ICD9:751.0 MedDRA:10027055" -MONDO:0004915 +MONDO:0007955 "A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction." "NCIT:C12264 DOID:9487 OMIM:155140 MESH:D008467 EFO:1001036 SCTID:37373007 ICD9:751.0 MedDRA:10027055" NCIT:C38328 MONDO:0100234 "A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence." "Orphanet:228140 OMIM:612956 GARD:0004227 OMIM:603829" -MONDO:0011997 "A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." "UMLS:C1842362 GARD:0009435 Orphanet:79430 NCIT:C150368 ICD10:E70.3 Orphanet:183678 OMIM:608233 DOID:0060540 MESH:C537709" +MONDO:0011997 "A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." "UMLS:C1842362 GARD:0009435 Orphanet:79430 NCIT:C150368 Orphanet:183678 OMIM:608233 ICD10CM:E70.3 DOID:0060540 MESH:C537709" MONDO:0100329 "The initial viral infectious disase that causes illness." -MONDO:0015562 "Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2)." "UMLS:C4275171 SCTID:715365000 GARD:0010972 Orphanet:1597 ICD10:Q93.5" +MONDO:0015562 "Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2)." "UMLS:C4275171 SCTID:715365000 GARD:0010972 Orphanet:1597 ICD10CM:Q93.5" UBERON:0008886 -MONDO:0010635 "The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3." "OMIM:308700 ICD10:E23.0 Orphanet:478 GARD:0003071 NCIT:C75480 DOID:0090094 UMLS:C1563719" -MONDO:0003718 "ICD9:433.81 DOID:5976 ICD9:433.9 ICD9:433.80 UMLS:C0265090 ICD10:I65.9 SCTID:28790007 ICD9:433 ICD9:433.3" -MONDO:0017461 "Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging." "Orphanet:295014 SCTID:763691008 ICD10:Q68.1" +MONDO:0010635 "The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3." "OMIM:308700 Orphanet:478 GARD:0003071 NCIT:C75480 DOID:0090094 UMLS:C1563719" +MONDO:0003718 "ICD9:433.81 DOID:5976 ICD9:433.9 ICD9:433.80 UMLS:C0265090 SCTID:28790007 ICD9:433 ICD9:433.3" +MONDO:0017461 "Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging." "Orphanet:295014 SCTID:763691008 ICD10CM:Q68.1" UBERON:0014776 http://identifiers.org/hgnc/1152 GO:0010923 "Any process that decreases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate." -MONDO:0015741 "Orphanet:1716 ICD10:Q92.3" -MONDO:0001520 "A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft." "ICD10:F63.2 ICD9:312.32 NCIT:C94333 SCTID:69361009 DOID:12400" -MONDO:0021124 "Diminished or absent ability of a female to achieve conception." "UMLS:C0341869 ICD9:628.8 EFO:0008560 MESH:D007247 SCTID:6738008 ICD10:N97 ICD9:628.9" +MONDO:0015741 "Orphanet:1716" +MONDO:0001520 "A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft." "ICD9:312.32 ICD10CM:F63.2 NCIT:C94333 SCTID:69361009 DOID:12400" +MONDO:0021124 "Diminished or absent ability of a female to achieve conception." "UMLS:C0341869 ICD9:628.8 EFO:0008560 MESH:D007247 ICD10CM:N97 SCTID:6738008 ICD9:628.9" UBERON:0005029 MONDO:0007675 "OMIM:138277" -MONDO:0008832 "A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12." "MedDRA:10068335 DOID:0060856 Orphanet:97548 OMIM:208530 ICD10:Q20.6 HP:0011536 GARD:0006795" +MONDO:0008832 "A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12." "MedDRA:10068335 DOID:0060856 Orphanet:97548 OMIM:208530 HP:0011536 GARD:0006795 ICD10CM:Q20.6" UBERON:0007688 -MONDO:0018448 "Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome." "SCTID:734015000 Orphanet:404511 UMLS:C4518333 ONCOTREE:CCPRC ICD10:C64" +MONDO:0018448 "Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome." "SCTID:734015000 Orphanet:404511 UMLS:C4518333 ONCOTREE:CCPRC ICD10CM:C64" MONDO:0001057 "A metastasizing granular cell tumor that arises from the stomach." "DOID:10536 UMLS:C1334585 NCIT:C5484" -MONDO:0004913 "ICD10:H50.05 UMLS:C0152205 DOID:9888 SCTID:39837002 ICD9:378.05" +MONDO:0004913 "UMLS:C0152205 ICD10CM:H50.05 DOID:9888 SCTID:39837002 ICD9:378.05" MONDO:0001720 "An synovitis (disease) caused by infection with Neisseria gonorrhoeae." "UMLS:C0343714 SCTID:266138002 DOID:13454 UMLS:C0275662 ICD9:098.51" UBERON:0006224 MONDO:0031219 "OMIMPS:276300" UBERON:0014777 UBERON:0008887 -MONDO:0001610 "Acute form of dacryocystitis." "ICD9:375.32 UMLS:C0155237 SCTID:25470000 DOID:12996 ICD10:H04.32" +MONDO:0001610 "Acute form of dacryocystitis." "ICD9:375.32 UMLS:C0155237 SCTID:25470000 DOID:12996" CL:0002052 "A pre-B cell that is pre-BCR-negative, and the kappa- and lambda- light immunoglobulin light chain-negative, CD43-low, and is BP-1-positive, CD45R-positive and CD25-positive. This cell type is also described as being AA4-positive, IgM-negative, CD19-positive, CD43-low/negative, and HSA-positive." MONDO:0015640 "Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness." "SCTID:765756007 Orphanet:166305" CHEBI:48219 "An antimicrobial agent that is applied to non-living objects to destroy harmful microorganisms or to inhibit their activity." @@ -23815,43 +23800,43 @@ MONDO:0700038 "Disease characterized by the presence of abnormally phosphorylate http://identifiers.org/hgnc/6055 MONDO:0007676 "OMIM:138340" UBERON:0007687 -MONDO:0012928 "Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging." "SCTID:763070001 ICD10:G11.4 Orphanet:171863 UMLS:C2675528 DOID:0110794 OMIM:612539 MESH:C567262" +MONDO:0012928 "Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging." "SCTID:763070001 Orphanet:171863 ICD10CM:G11.4 UMLS:C2675528 DOID:0110794 OMIM:612539 MESH:C567262" CHR:9606-chr20p MONDO:0030018 "OMIM:618852" MONDO:0044138 "Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina." "UMLS:C0235812 SCTID:95802009 NCIT:C50587 EFO:1001907" GO:0009069 "The chemical reactions and pathways involving amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine." -MONDO:0017234 "An instance of prion disease that is caused by an inherited modification of the individual's genome." "UMLS:CN202725 Orphanet:280400 ICD10:A81.8" +MONDO:0044965 "OBSOLETE. A disease or disorder that involves the abdominal segment of trunk." "UMLS:C3661988 SCTID:609618002" +MONDO:0017234 "An instance of prion disease that is caused by an inherited modification of the individual's genome." "UMLS:CN202725 Orphanet:280400 ICD10CM:A81.8" MONDO:0044903 "A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003" "NCIT:C3248" MONDO:0043759 "Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs." "MESH:D011269 SCTID:82661006 NCIT:C92921" GO:0016064 "An immune response mediated by immunoglobulins, whether cell-bound or in solution." -MONDO:0020332 "Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia)." "ONCOTREE:SMAHN ICDO:9741/3 SCTID:397015000 DOID:4797 EFO:1000559 Orphanet:98849 ICD10:C96.2 NCIT:C9284" +MONDO:0020332 "Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia)." "ONCOTREE:SMAHN ICDO:9741/3 ICD10CM:C96.2 SCTID:397015000 DOID:4797 EFO:1000559 Orphanet:98849 NCIT:C9284" MONDO:0003285 "A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "UMLS:C1517115 NCIT:C40127 DOID:5124" -MONDO:0019634 "Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions." "SCTID:763532008 UMLS:CN206502 Orphanet:922 ICD10:Q30.8 GARD:0002254" +MONDO:0019634 "Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions." "SCTID:763532008 UMLS:CN206502 Orphanet:922 GARD:0002254 ICD10CM:Q30.8" OBA:1001084 "The osmolality of a feces." MONDO:0033615 "OMIM:619028" http://identifiers.org/hgnc/5956 -MONDO:0011673 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26." "MESH:C564706 OMIM:606451 DOID:0110560 Orphanet:90635 ICD10:H90.3 UMLS:C1847972" +MONDO:0011673 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26." "MESH:C564706 OMIM:606451 DOID:0110560 Orphanet:90635 UMLS:C1847972" MONDO:0033613 "OMIM:619026 Orphanet:210141 GARD:0010447 UMLS:C2751938 MESH:C567853 OMIM:603513" MONDO:0007677 "UMLS:C0543541 OMIM:138500 MESH:C563009 HP:0003108" -MONDO:0011833 "Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." "MESH:C537200 UMLS:C4305144 UMLS:C1843891 DOID:0050972 OMIM:607454 SCTID:718774001 Orphanet:98773 GARD:0009999 ICD10:G11.1" +MONDO:0011833 "Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." "MESH:C537200 UMLS:C4305144 UMLS:C1843891 DOID:0050972 OMIM:607454 ICD10CM:G11.1 SCTID:718774001 Orphanet:98773 GARD:0009999" UBERON:0011171 GO:0005216 "Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size)." MONDO:0043291 "An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones." "UMLS:C0267892 SCTID:22149007 GARD:0009419 MESH:C535869" MONDO:0030019 "OMIM:618853" -MONDO:0020349 "Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-BarrC) syndrome (GBS)." "UMLS:C3890941 SCTID:715770009 Orphanet:98918 NCIT:C116929 UMLS:CN207196 ICD10:G61.0" +MONDO:0020349 "Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-BarrC) syndrome (GBS)." "UMLS:C3890941 ICD10CM:G61.0 SCTID:715770009 Orphanet:98918 NCIT:C116929 UMLS:CN207196" MONDO:0043230 "Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances." "GARD:0006113 SCTID:241774007 MESH:D036841" NCBITaxon:55872 "GC_ID:1" -MONDO:0004916 CL:0000843 "A resting mature B cell that has the phenotype IgM-positive, IgD-positive, CD23-positive and CD21-positive, and found in the B cell follicles of the white pulp of the spleen or the corticol areas of the peripheral lymph nodes. This cell type is also described as being CD19-positive, B220-positive, AA4-negative, CD43-negative, and CD5-negative." -MONDO:0005272 "A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)" "EFO:0003802 MESH:D000753 Orphanet:98826 SCTID:109996008 ICD9:238.72 NCIT:C2872 ICD10:D46.7 MedDRA:10038269 ICDO:9980/3 UMLS:C0002893" -MONDO:0010144 "Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." "ICD10:Q72.5 Orphanet:93322 MESH:C535563 SCTID:79177001 GARD:0008707 OMIM:275220" +MONDO:0005272 "A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)" "EFO:0003802 MESH:D000753 Orphanet:98826 SCTID:109996008 ICD9:238.72 NCIT:C2872 MedDRA:10038269 ICDO:9980/3 UMLS:C0002893" +MONDO:0010144 "Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula." "Orphanet:93322 MESH:C535563 SCTID:79177001 GARD:0008707 OMIM:275220" UBERON:0006222 -MONDO:0005076 "An acute or chronic inflammatory process that affects the tissues that surround and support the teeth." "ICD9:523.5 ICD10:K05.3 NCIT:C34918 DOID:9893 UMLS:C0600298 DOID:824 SCTID:41565005 MESH:D010518 UMLS:C0031099 EFO:0000649 ICD10:K05.4 OMIM:170650 OMIM:260950" +MONDO:0005076 "An acute or chronic inflammatory process that affects the tissues that surround and support the teeth." "ICD9:523.5 NCIT:C34918 DOID:9893 ICD10CM:K05.4 UMLS:C0600298 ICD10CM:K05.3 DOID:824 SCTID:41565005 MESH:D010518 EFO:0000649 UMLS:C0031099 OMIM:170650 OMIM:260950" ENVO:01000408 "A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein." MONDO:0006973 "A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma." "UMLS:C0206697 MedDRA:10040798 ONCOTREE:SKAC ICDO:8390/3 EFO:1001183 MESH:D018280 NCIT:C3775" MONDO:0017041 "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance." "UMLS:CN202358 SCTID:722108000 Orphanet:2653" -MONDO:0019053 "A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia." "UMLS:C0282528 SCTID:238059005 ICD10:E71.50 Orphanet:68373 ICD10:E71.5 NCIT:C85005 ICD9:277.86 DOID:906 ICD9:277.89" -MONDO:0016572 "Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children." "UMLS:C4303949 ICD10:Q04.8 SCTID:720632004 Orphanet:2431" +MONDO:0019053 "A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia." "UMLS:C0282528 SCTID:238059005 Orphanet:68373 NCIT:C85005 ICD9:277.86 DOID:906 ICD9:277.89" +MONDO:0016572 "Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children." "UMLS:C4303949 SCTID:720632004 ICD10CM:Q04.8 Orphanet:2431" MONDO:0033614 "OMIM:619027" UBERON:0014775 UBERON:0012378 @@ -23872,16 +23857,15 @@ MONDO:0030015 "OMIM:618849" GO:0006898 "An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles." GO:0006706 "The chemical reactions and pathways resulting in the breakdown of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus." UBERON:0012377 -MONDO:0001319 "SCTID:188241004 NCIT:C12333 DOID:11593 ICD9:188.2 UMLS:C0496828 ICD10:C67.2" +MONDO:0001319 "SCTID:188241004 NCIT:C12333 DOID:11593 ICD9:188.2 UMLS:C0496828" http://identifiers.org/hgnc/3551 SO:0001500 "A biological_region characterized as a single heritable trait in a phenotype screen. The heritable phenotype may be mapped to a chromosome but generally has not been characterized to a specific gene locus." UBERON:0003729 -MONDO:0018633 "20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported." "UMLS:CN237681 ICD10:Q93.5 Orphanet:444051" -MONDO:0005274 +MONDO:0018633 "20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported." "UMLS:CN237681 ICD10CM:Q93.5 Orphanet:444051" MONDO:0003714 "NCIT:C39845 UMLS:C1511206 DOID:5957" MONDO:0010487 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene." "UMLS:C3806746 OMIM:300919" http://identifiers.org/hgnc/6052 -MONDO:0001317 "DOID:11581 ICD9:370.31 SCTID:67895005 ICD10:H16.25 UMLS:C0155080" +MONDO:0001317 "DOID:11581 ICD9:370.31 SCTID:67895005 UMLS:C0155080" HP:0003121 "A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs." "UMLS:C1969879" UBERON:0005025 MONDO:0002517 "ICD9:727.06 DOID:312" @@ -23892,9 +23876,8 @@ GO:1904226 "Any process that modulates the frequency, rate or extent of glycogen MONDO:0014319 "Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene." "UMLS:C3810359 OMIM:615721 Orphanet:411709" GO:0003867 "Catalysis of the reaction: 4-aminobutanoate + amino group acceptor = succinate semialdehyde + amino acid." MONDO:0006473 -MONDO:0014271 "STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1)." "ICD10:E77.8 OMIM:615597 DOID:0080573 UMLS:C2931007 MESH:C535751 Orphanet:370924 SCTID:733112007" -MONDO:0019091 "Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." "NCIT:C90599 UMLS:C0006287 Orphanet:70589 MESH:D001997 GARD:0005962 SCTID:67569000 ICD10:P27.1 MedDRA:10006475" -MONDO:0030016 +MONDO:0014271 "STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1)." "OMIM:615597 DOID:0080573 ICD10CM:E77.8 UMLS:C2931007 MESH:C535751 Orphanet:370924 SCTID:733112007" +MONDO:0019091 "Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." "NCIT:C90599 UMLS:C0006287 Orphanet:70589 MESH:D001997 GARD:0005962 SCTID:67569000 MedDRA:10006475" MONDO:0006209 "A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts." "NCIT:C7075 EFO:1000255" MONDO:0024890 "A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)" "UMLS:C0031941 NCIT:C6965 ICDO:9360/1" MONDO:0032675 "OMIM:618323" @@ -23903,19 +23886,19 @@ MONDO:0001318 "SCTID:386211005 ICD9:536.8 SCTID:150541000119104 ICD9:306.4 ICD9 MONDO:0003470 "An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)" "MESH:D004806 DOID:5500 NCIT:C4713 NCIT:C4714 UMLS:C1384403" UBERON:0003728 MONDO:0003711 -MONDO:0015254 "An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic." "ICD9:120.8 NCIT:C35000 ICD9:120.9 MESH:D012552 ICD10:B65.1 ICD10:B65.3 OMIM:181460 ICD10:B65.0 ICD10:B65.9 DOID:1395 ICD10:B65.2 Orphanet:1247 GARD:0009687 SCTID:10087007 EFO:1001475 ICD10:B65.8 MedDRA:10039603 UMLS:C0036323" -MONDO:0010828 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene." "OMIM:600138 GARD:0010383 DOID:0110408 ICD10:H35.5 UMLS:C1838601 MESH:C563991" +MONDO:0015254 "An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic." "ICD9:120.8 NCIT:C35000 ICD9:120.9 MESH:D012552 ICD10CM:B65.9 OMIM:181460 DOID:1395 ICD10CM:B65.1 Orphanet:1247 ICD10CM:B65.8 GARD:0009687 SCTID:10087007 EFO:1001475 MedDRA:10039603 UMLS:C0036323 ICD10CM:B65.0 ICD10CM:B65.3 ICD10CM:B65.2" +MONDO:0010828 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene." "GARD:0010383 OMIM:600138 DOID:0110408 UMLS:C1838601 MESH:C563991" MONDO:0001867 "An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions." "ICD9:117.8 SCTID:47158003 DOID:14049 GARD:0012803 MESH:D060446" -MONDO:0019098 "An autoimmune form of thrombocytopenia." "SCTID:128091003 Orphanet:71203 MedDRA:10050245 UMLS:C0242584 ICD10:D69.3" +MONDO:0019098 "An autoimmune form of thrombocytopenia." "SCTID:128091003 Orphanet:71203 MedDRA:10050245 UMLS:C0242584 ICD10CM:D69.3" MONDO:0003977 UBERON:0005026 UBERON:0007425 MONDO:0000119 HP:0011357 -MONDO:0013090 "The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." "UMLS:C4304577 GARD:0010592 UMLS:C2751651 MESH:C567810 ICD10:Q93.5 OMIM:613026 SCTID:719599008 Orphanet:217346 DOID:0060408" +MONDO:0013090 "The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." "UMLS:C4304577 GARD:0010592 UMLS:C2751651 MESH:C567810 OMIM:613026 SCTID:719599008 Orphanet:217346 ICD10CM:Q93.5 DOID:0060408" MONDO:0032679 "DOID:0111499 OMIM:618329" -MONDO:0004917 "A hordeolum that results from infection of a meibomian gland." "UMLS:C0085690 DOID:9908 ICD10:H00.02 SCTID:414521009 ICD9:373.12" -MONDO:0018341 "3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus." "Orphanet:397695 UMLS:CN225942 ICD10:Q93.5" +MONDO:0004917 "A hordeolum that results from infection of a meibomian gland." "UMLS:C0085690 DOID:9908 SCTID:414521009 ICD9:373.12" +MONDO:0018341 "3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus." "Orphanet:397695 ICD10CM:Q93.5 UMLS:CN225942" UBERON:0004928 MONDO:0015863 "Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known." "NCIT:C66776 UMLS:C0334518 GARD:0009621 Orphanet:180229" MONDO:0024608 "Gastrointestinal infection with organisms of the genus dientamoeba." "DOID:946 SCTID:67915005 MESH:D004030" @@ -23929,20 +23912,20 @@ MONDO:0003395 "A rare sex cord-stromal tumor that arises from the testis. It is http://identifiers.org/hgnc/3553 MONDO:0000118 "OMIMPS:179850" MONDO:0008873 "MESH:C537320 Orphanet:2636 OMIM:210730 UMLS:C1859439" -MONDO:0008765 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene." "DOID:0110016 UMLS:C1859844 OMIM:204100 MESH:C536601 GARD:0000636 ICD10:H35.5" +MONDO:0008765 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene." "DOID:0110016 UMLS:C1859844 OMIM:204100 MESH:C536601 GARD:0000636" GO:0042330 "The directed movement of a motile cell or organism in response to an external stimulus." UBERON:0012375 UBERON:0006227 MONDO:0014022 "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene." "UMLS:C3554381 Orphanet:899 OMIM:615041 DOID:0111239" -MONDO:0002305 "A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome." "SCTID:234467004 UMLS:C0398623 NCIT:C84479 MESH:D019851 Orphanet:64738 ICD9:286.9 DOID:2452 ICD10:D68.59" -MONDO:0019494 "Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic." "Orphanet:875 ICD10:C38.0 UMLS:CN206281 ICD10:D15.1" +MONDO:0002305 "A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome." "SCTID:234467004 NCIT:C84479 UMLS:C0398623 MESH:D019851 Orphanet:64738 ICD9:286.9 DOID:2452" +MONDO:0019494 "Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic." "Orphanet:875 ICD10CM:C38.0 ICD10CM:D15.1 UMLS:CN206281" MONDO:0000565 "Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue." "DOID:0060000 SCTID:233850007 ICD9:136.9 GARD:0006337 NCIT:C78265 Orphanet:570762" MONDO:0007673 "OMIM:138070 MESH:C562670 UMLS:C0268536" UBERON:0005027 MONDO:0003712 "UMLS:C0263640 NCIT:C3927 SCTID:62727008 DOID:5948" -MONDO:0008661 "Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes." "ICD10:L80 MESH:D014820 DOID:12306 UMLS:C0042900 Orphanet:247871 ICD9:709.01 NCIT:C26915 EFO:0004208 OMIM:193200" +MONDO:0008661 "Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes." "MESH:D014820 ICD10CM:L80 DOID:12306 UMLS:C0042900 Orphanet:247871 ICD9:709.01 NCIT:C26915 EFO:0004208 OMIM:193200" MONDO:0003036 "A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade." "MESH:D018277 EFO:1001049 MESH:D018298 ONCOTREE:MUCC DOID:4531 UMLS:C0206694 GARD:0010671 NCIT:C3772 ICDO:8430/1 ICDO:8430/3" -MONDO:0004456 "Disorders related or resulting from use of cocaine." "ICD10:F14.1 ICD9:305.60 DOID:809 ICD9:305.6 SCTID:78267003" +MONDO:0004456 "Disorders related or resulting from use of cocaine." "ICD9:305.60 DOID:809 ICD9:305.6 SCTID:78267003" UBERON:0004929 MONDO:0004817 "A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine." "UMLS:C0456845 DOID:9547 NCIT:C4734 SCTID:277580004 UMLS:C3898125" MONDO:0002211 "A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient." "DOID:2115 ICD9:279.03 NCIT:C4799" @@ -23951,22 +23934,22 @@ MONDO:0000117 http://identifiers.org/hgnc/25941 MONDO:0030014 "OMIM:618848" http://identifiers.org/hgnc/6050 -MONDO:0012787 "This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting." "OMIM:612020 DOID:0110790 UMLS:C4304963 GARD:0004924 MESH:C567433 Orphanet:139480 ICD10:G11.4 SCTID:719103009 UMLS:C2677586" +MONDO:0012787 "This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting." "OMIM:612020 DOID:0110790 UMLS:C4304963 GARD:0004924 MESH:C567433 Orphanet:139480 SCTID:719103009 UMLS:C2677586 ICD10CM:G11.4" UBERON:0006226 -MONDO:0007203 "Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia." "UMLS:C0346072 SCTID:254784002 Orphanet:1059 ICD10:Q27.8 MESH:C536240 NCIT:C4486 OMIM:112200 GARD:0005940" -MONDO:0019666 "Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." "Orphanet:93282 OMIM:612847 SCTID:719172003 ICD10:Q77.7 DOID:0050812" +MONDO:0007203 "Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia." "UMLS:C0346072 SCTID:254784002 Orphanet:1059 ICD10CM:Q27.8 MESH:C536240 NCIT:C4486 OMIM:112200 GARD:0005940" +MONDO:0019666 "Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." "Orphanet:93282 OMIM:612847 SCTID:719172003 ICD10CM:Q77.7 DOID:0050812" GO:1904222 "Any process that activates or increases the frequency, rate or extent of serine C-palmitoyltransferase activity." MONDO:0009811 "UMLS:C1850142 MESH:C564917 OMIM:259650" FOODON:03400004 "http://www.langual.org/langual_thesaurus.asp?termid=A0004" MONDO:0026782 -MONDO:0018243 "Orphanet:369847 ICD10:G71.0 OMIM:615356 UMLS:CN204803" +MONDO:0018243 "Orphanet:369847 ICD10CM:G71.0 OMIM:615356 UMLS:CN204803" MONDO:0016947 "Orphanet:262776" UBERON:0003724 GO:1903010 "Any process that modulates the frequency, rate or extent of bone development." http://identifiers.org/hgnc/16232 MONDO:0019099 "OBSOLETE. Any of the forms of soft tissue neoplasm that have a rare incidence." "Orphanet:71209" MONDO:0021628 -MONDO:0019440 "SCTID:32599008 ICD10:E85.3 GARD:0010563 UMLS:CN206197 Orphanet:85446" +MONDO:0019440 "SCTID:32599008 ICD10CM:E85.3 GARD:0010563 UMLS:CN206197 Orphanet:85446" UBERON:0005020 GO:0034404 "The chemical reactions and pathways resulting in the formation of a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide." GO:1903706 "Any process that modulates the frequency, rate or extent of hemopoiesis." @@ -23983,18 +23966,19 @@ UBERON:0003725 UBERON:0004088 MONDO:0022826 "GARD:0001479" MONDO:0021088 "A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern." "ICDO:9538/3 ONCOTREE:PPM UMLS:C3163622 NCIT:C3904" -MONDO:0018244 "ICD10:E66.8 Orphanet:369873" -MONDO:0015172 "OBSOLETE. This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness." "ICD10:P78.3 UMLS:CN226615 Orphanet:103912" +MONDO:0018244 "Orphanet:369873 ICD10CM:E66.8" +MONDO:0015172 "OBSOLETE. This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness." "UMLS:CN226615 Orphanet:103912 ICD10CM:P78.3" UBERON:0003723 -MONDO:0008386 "A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth." "UMLS:C3714873 DOID:0110120 Orphanet:782 NCIT:C75015 OMIM:180500 ICD10:Q13.8" +MONDO:0008386 "A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth." "UMLS:C3714873 DOID:0110120 Orphanet:782 NCIT:C75015 OMIM:180500" +MONDO:0016946 UBERON:0001328 -MONDO:0012391 "Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." "Orphanet:1947 OMIM:600143 ICD10:E75.4 GARD:0004010 OMIM:610003 DOID:0110724 GARD:0002163" +MONDO:0012391 "Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." "Orphanet:1947 OMIM:600143 GARD:0004010 OMIM:610003 DOID:0110724 GARD:0002163 ICD10CM:E75.4" MONDO:0014564 "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene." "OMIM:616278 DOID:0111066" http://identifiers.org/hgnc/30892 GO:0065009 "Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding." UBERON:0005287 UBERON:0005021 -MONDO:0009876 "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3." "Orphanet:231662 SCTID:237837007 MESH:C537404 Orphanet:631 DOID:0060873 OMIM:262400 ICD10:E23.0 GARD:0007399 ICD9:259.4" +MONDO:0009876 "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3." "ICD10CM:E23.0 Orphanet:231662 SCTID:237837007 MESH:C537404 Orphanet:631 DOID:0060873 OMIM:262400 GARD:0007399 ICD9:259.4" MONDO:0030012 "OMIM:618846" GO:0002275 "A change in the morphology or behavior of a myeloid cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response." MONDO:0007547 "The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule." "OMIM:131600 SCTID:419893006 EFO:1000243 NCIT:C3134" @@ -24004,8 +23988,8 @@ MF:0000008 "A mental process that creates, modifies or has as participant some c MONDO:0022825 "GARD:0010617 Orphanet:519384" MONDO:0024385 http://identifiers.org/hgnc/14938 -MONDO:0018066 "Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." "NCIT:C129718 ICD10:Q97.0 UMLS:C0221033 MESH:C535318 SCTID:35111009 Orphanet:3375 GARD:0005672" -MONDO:0016068 "Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported." "MESH:C562524 DOID:0060465 ICD10:Q77.7 OMIM:228520 OMIM:614524 Orphanet:2021 OMIMPS:228520 GARD:0002321 SCTID:17144009" +MONDO:0018066 "Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." "NCIT:C129718 UMLS:C0221033 MESH:C535318 SCTID:35111009 Orphanet:3375 GARD:0005672" +MONDO:0016068 "Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported." "MESH:C562524 DOID:0060465 ICD10CM:Q77.7 OMIM:228520 OMIM:614524 Orphanet:2021 OMIMPS:228520 GARD:0002321 SCTID:17144009" MONDO:0002550 "A neoplasm involving a hypoglossal nerve." "ICD9:239.7 DOID:3198 NCIT:C5830 UMLS:C1263903 SCTID:126978008" CHEBI:33702 "A cation consisting of more than one atom." MONDO:0043317 "Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin." "MESH:C538250 UMLS:C0406645 GARD:0009907 SCTID:238935002 Orphanet:221" @@ -24014,12 +23998,12 @@ UBERON:0004924 CHEBI:75772 "Any fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae)." CL:1001599 "Glandular cell of exocrine pancreas epithelium. Example: pancreatic acinar cell, glandular cells in pancreatic canaliculi, glandular cells in pancreatic ducts." "BTO:0000028 CALOHA:TS-1242" UBERON:0005022 -MONDO:0018903 "Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism." "MedDRA:10039483 ICD9:136.5 DOID:9640 Orphanet:54368 MESH:D012523 UMLS:C0036231 SCTID:88905005 ICD10:A07.8 EFO:0007476" +MONDO:0018903 "Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism." "MedDRA:10039483 ICD9:136.5 DOID:9640 Orphanet:54368 MESH:D012523 ICD10CM:A07.8 UMLS:C0036231 SCTID:88905005 EFO:0007476" MONDO:0007418 "UMLS:C2751189 OMIM:124300 OMIM:124400" MONDO:0014343 "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene." "UMLS:C4014294 OMIM:615777 Orphanet:1425 UMLS:C3550876" MONDO:0100259 "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene." MONDO:0019442 -MONDO:0021463 "A benign neoplasm that involves the parathyroid gland." "NCIT:C3630 ICD10:D35.1 SCTID:92272009 DOID:60008 ICD9:227.1 UMLS:C0154041" +MONDO:0021463 "A benign neoplasm that involves the parathyroid gland." "NCIT:C3630 ICD10CM:D35.1 SCTID:92272009 DOID:60008 ICD9:227.1 UMLS:C0154041" http://identifiers.org/hgnc/16499 UBERON:0002529 UBERON:0004923 @@ -24028,13 +24012,13 @@ UBERON:0003727 http://identifiers.org/hgnc/17697 CHEBI:35350 MONDO:0006297 "An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course." "DOID:7198 NCIT:C6239 EFO:1000365 UMLS:C1334643" -MONDO:0018241 "UMLS:CN204780 ICD10:Q41.0 Orphanet:365563" -MONDO:0020519 "A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions." "ICD9:277.89 ICD10:C96.5 ICDO:9753/1 Orphanet:99873 UMLS:CN207416 SCTID:39795003 NCIT:C6920" +MONDO:0018241 "UMLS:CN204780 ICD10CM:Q41.0 Orphanet:365563" +MONDO:0020519 "A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions." "ICD9:277.89 ICD10CM:C96.5 ICDO:9753/1 Orphanet:99873 UMLS:CN207416 SCTID:39795003 NCIT:C6920" http://identifiers.org/hgnc/21144 MONDO:0022824 "GARD:0001478" -MONDO:0020559 "O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period." "UMLS:C2721741 MedDRA:10069682 ICD10:G12.8 Orphanet:99965" +MONDO:0020559 "O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period." "UMLS:C2721741 MedDRA:10069682 Orphanet:99965 ICD10CM:G12.8" MONDO:0022822 "GARD:0006154" -MONDO:0010142 "Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." "UMLS:C3493776 DOID:0070126 ICD10:E03.1 Orphanet:90673 OMIM:275200 UMLS:CN206435" +MONDO:0010142 "Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." "UMLS:C3493776 DOID:0070126 Orphanet:90673 ICD10CM:E03.1 OMIM:275200 UMLS:CN206435" UBERON:0004925 MONDO:0007419 CL:0002602 @@ -24043,9 +24027,9 @@ UBERON:0005023 ENVO:00003030 "A fermented, high-moisture forage that can be fed to ruminants." HP:0030972 "A chronic deviation from normal pressure in the systemic arterial system." MONDO:0032673 "OMIM:618317" -MONDO:0001535 "A disease involving the vagus nerve." "MESH:D020421 UMLS:C0152179 DOID:12491 NCIT:C27591 ICD10:G52.2 SCTID:73765005 ICD9:352.3" +MONDO:0001535 "A disease involving the vagus nerve." "MESH:D020421 UMLS:C0152179 DOID:12491 NCIT:C27591 SCTID:73765005 ICD9:352.3" MONDO:0030010 "OMIM:618841" -MONDO:0007137 "This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome." "OMIM:107200 SCTID:230502003 Orphanet:88620 GARD:0009486 ICD10:Q07.8 MESH:C535983" +MONDO:0007137 "This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome." "OMIM:107200 SCTID:230502003 ICD10CM:Q07.8 Orphanet:88620 GARD:0009486 MESH:C535983" UBERON:0002528 GO:0034381 "The process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded." UBERON:0003726 @@ -24057,7 +24041,7 @@ MONDO:0007678 "OMIM:138710" GO:2001199 "Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell differentiation." UBERON:0007685 MONDO:0012741 "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." "Orphanet:1331 UMLS:C2678479 MESH:C567510 OMIM:611868" -MONDO:0004919 "DOID:9911 ICD10:N43.1 UMLS:C0156300 SCTID:11666007 ICD9:603.1" +MONDO:0004919 "DOID:9911 ICD10CM:N43.1 UMLS:C0156300 SCTID:11666007 ICD9:603.1" CL:0002521 "A fat cell that is part of subcutaneous adipose tissue." UBERON:0000127 MONDO:0000332 "An ehlrichiosis caused by Neorickettsia sennetsu." "SCTID:21013006 UMLS:C0520779 DOID:0050485 ICD9:088.89 MESH:C537582 GARD:0000120" @@ -24073,20 +24057,20 @@ UBERON:0004084 NCBITaxon:7511 "GC_ID:1" http://identifiers.org/hgnc/449 NCBITaxon:6315 "GC_ID:1" -MONDO:0011090 "Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal." "SCTID:733091002 UMLS:C4518577 OMIMPS:601471 ICD10:Q87.0 OMIM:601471 MESH:C563309 GARD:0008583 Orphanet:306527" -MONDO:0006609 "Excessive shedding of dry scaly material from the scalp in humans." "UMLS:C0221244 ICD9:690.11 ICD10:L21.0 EFO:1000765 DOID:8941" +MONDO:0011090 "Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal." "SCTID:733091002 UMLS:C4518577 OMIMPS:601471 OMIM:601471 MESH:C563309 ICD10CM:Q87.0 GARD:0008583 Orphanet:306527" +MONDO:0006609 "Excessive shedding of dry scaly material from the scalp in humans." "UMLS:C0221244 ICD9:690.11 EFO:1000765 ICD10CM:L21.0 DOID:8941" MONDO:0016942 "Orphanet:262725" UBERON:0007684 -MONDO:0015625 "Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." "ICD10:E16.1 Orphanet:165988" -MONDO:0009492 "Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." "OMIM:245050 SCTID:238004006 Orphanet:832 ICD9:270.8 ICD10:E71.3 MESH:C537527 GARD:0004774" -MONDO:0007279 "A cataract that has material basis in variation in the region 17q24." "ICD10:Q12.0 Orphanet:98989 OMIM:115660 DOID:0110260" +MONDO:0015625 "Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy." "Orphanet:165988 ICD10CM:E16.1" +MONDO:0009492 "Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." "OMIM:245050 SCTID:238004006 Orphanet:832 ICD9:270.8 MESH:C537527 GARD:0004774 ICD10CM:E71.3" +MONDO:0007279 "A cataract that has material basis in variation in the region 17q24." "Orphanet:98989 OMIM:115660 DOID:0110260" UBERON:0002787 -MONDO:0014072 "D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites." "OMIM:615182 SCTID:713401006 UMLS:C2746066 Orphanet:356978 ICD9:270.8 DOID:0111619 ICD10:E72.8 UMLS:C4076194" +MONDO:0014072 "D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites." "OMIM:615182 SCTID:713401006 UMLS:C2746066 Orphanet:356978 ICD9:270.8 ICD10CM:E72.8 DOID:0111619 UMLS:C4076194" UBERON:0002521 GO:0009790 "The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant." -MONDO:0019120 "Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." "SCTID:717360009 ICD10:L67.8 Orphanet:720" +MONDO:0019120 "Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." "SCTID:717360009 ICD10CM:L67.8 Orphanet:720" UBERON:0005283 -MONDO:0004918 "ICD10:H16.01 DOID:9910 SCTID:7426009 UMLS:C0155069 ICD9:370.03" +MONDO:0004918 "DOID:9910 SCTID:7426009 UMLS:C0155069 ICD9:370.03" HP:0100508 "An anomaly in the metabolism of a vitamin." "UMLS:C4022036" UBERON:0008883 UBERON:0001323 @@ -24094,7 +24078,7 @@ NCBITaxon:15957 "GC_ID:1" MONDO:0018240 "UMLS:CN227290 Orphanet:364820" MONDO:0018730 "OBSOLETE. An instance of rare venous malformation that is caused by a modification of the individual's genome." "UMLS:CN241790 Orphanet:459548" UBERON:0036303 -MONDO:0020428 "ICD10:Q21.0 Orphanet:99095 SCTID:204312002" +MONDO:0020428 "Orphanet:99095 SCTID:204312002 ICD10CM:Q21.0" MONDO:0008616 "OMIM:191250 MESH:C566018" UBERON:0004085 NCBITaxon:6314 "GC_ID:1" @@ -24105,29 +24089,29 @@ UBERON:0000125 MONDO:0005407 "An eosinophilic esophagitis that starts in childhood." "EFO:0004594" MONDO:0002141 "An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." "SCTID:404014008 DOID:1906 NCIT:C5576 EFO:1000212 UMLS:C1275254 ICD9:171.9" http://identifiers.org/hgnc/9652 -MONDO:0019455 "An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis." "ICD9:289.89 MedDRA:10000879 ICD10:C94.4 SCTID:109991003 UMLS:C0334674 ICDO:9931/3 GARD:0011907 NCIT:C4344 Orphanet:86843 ONCOTREE:APMF" +MONDO:0019455 "An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis." "ICD9:289.89 MedDRA:10000879 SCTID:109991003 UMLS:C0334674 ICDO:9931/3 GARD:0011907 NCIT:C4344 Orphanet:86843 ONCOTREE:APMF" MONDO:0024389 "UMLS:C0854328 ICD9:041.84 SCTID:423451008" GO:0043484 "Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA." -MONDO:0000979 "An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes." "ICD10:A67.0 ICD9:103.2 ICD10:A67.3 SCTID:22064009 ICD10:A67.2 ICD9:103.9 ICD10:A67 EFO:1001396 ICD9:103.1 UMLS:C0031946 DOID:1022 ICD10:A67.9 ICD10:A67.1 ICD9:103.3 ICD9:103 GARD:0007397 ICD9:103.0 MESH:D010874 NCIT:C85011" +MONDO:0000979 "An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes." "NCIT:C85011 ICD9:103.3 ICD9:103 ICD9:103.9 GARD:0007397 ICD9:103.2 ICD9:103.1 ICD9:103.0 UMLS:C0031946 SCTID:22064009 EFO:1001396 MESH:D010874 DOID:1022" UBERON:0036300 UBERON:0001326 -MONDO:0020429 "ICD10:Q24.2 SCTID:274947007 ICD9:746.89 Orphanet:99098 HP:0011566 GARD:0012483" +MONDO:0020429 "SCTID:274947007 ICD9:746.89 Orphanet:99098 ICD10CM:Q24.2 HP:0011566 GARD:0012483" NCBITaxon:15956 "GC_ID:1" MONDO:0032670 "OMIM:618313" MONDO:0014762 "Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene." "UMLS:C4225217 OMIM:616749" MONDO:0008615 "OMIM:191200 UMLS:C1860646 SCTID:55647004 ICD9:389.8 MESH:C566019" UBERON:0004086 GO:0019219 "Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids." -MONDO:0015349 "Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability." "ICD10:E75.2 Orphanet:139447 SCTID:719267003 UMLS:C4304840" +MONDO:0015349 "Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability." "Orphanet:139447 SCTID:719267003 ICD10CM:E75.2 UMLS:C4304840" MONDO:0009812 "MESH:C564916 OMIM:259660 UMLS:C1850141" UBERON:0003721 MONDO:0009143 "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene." "UMLS:CN030358 SCTID:703508009 ICD9:759.89 OMIM:224690 Orphanet:2554 DOID:0080512" -MONDO:0011688 "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." "MESH:C564691 Orphanet:52428 UMLS:C1847759 ICD10:G71.2 DOID:0110635 OMIM:606612 Orphanet:370968 Orphanet:370980 Orphanet:370959" +MONDO:0011688 "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3." "MESH:C564691 Orphanet:52428 UMLS:C1847759 DOID:0110635 OMIM:606612 Orphanet:370968 Orphanet:370980 Orphanet:370959" UBERON:0035102 UBERON:0002523 UBERON:0000126 MONDO:0005018 -MONDO:0001746 "Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)" "UMLS:C0029128 DOID:13561 ICD10:H47.32 MESH:D015594 SCTID:33629003 ICD9:377.21" +MONDO:0001746 "Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)" "UMLS:C0029128 DOID:13561 MESH:D015594 SCTID:33629003 ICD9:377.21" MONDO:0017040 "UMLS:CN202351 Orphanet:264984" NCBITaxon:7776 "GC_ID:1" MONDO:0010971 "Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging." "UMLS:C1832949 SCTID:725905005 Orphanet:1849 OMIM:600989 GARD:0003005 MESH:C535528" @@ -24135,7 +24119,7 @@ GO:0016209 "Inhibition of the reactions brought about by dioxygen (O2) or peroxi UBERON:0001325 UBERON:0003988 MONDO:0005115 "A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)" "NIFSTD:birnlex_12733 EFO:0000773 OMIM:616436 OMIM:616461 OMIMPS:600512 SCTID:193000002 DOID:3328 UMLS:C0014556 MESH:D004833" -MONDO:0010738 "Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base." "UMLS:C0796172 MESH:C563124 GARD:0008343 ICD10:Q77.8 OMIM:313420 Orphanet:168544" +MONDO:0010738 "Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base." "UMLS:C0796172 MESH:C563124 GARD:0008343 OMIM:313420 Orphanet:168544 ICD10CM:Q77.8" UBERON:0004087 MONDO:0012430 "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene." "MESH:C567656 Orphanet:1766 OMIM:610185 UMLS:C2750234" ENVO:02000091 "A combustible black or brownish-black sedimentary rock usually occurring in rock strata in layers or veins called coal beds or coal seams." @@ -24143,43 +24127,43 @@ UBERON:0036301 NCIT:C94299 MONDO:0008614 "OMIM:191181 UMLS:C1860658" ENVO:01000724 "Condensation is a process during which a gas undergoes a phase transition into a liquid." -MONDO:0019026 "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration." "OMIM:611490 OMIM:259710 Orphanet:667 OMIMPS:259700 OMIM:615085 NCIT:C129733 OMIM:259700 ICD10:Q78.2 SCTID:367489004" -MONDO:0020434 "Orphanet:99103 ICD10:Q21.1 MedDRA:10031302 GARD:0005865 MedDRA:10031303" +MONDO:0019026 "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration." "OMIM:611490 ICD10CM:Q78.2 OMIM:259710 Orphanet:667 OMIMPS:259700 OMIM:615085 NCIT:C129733 OMIM:259700 SCTID:367489004" +MONDO:0020434 "Orphanet:99103 ICD10CM:Q21.1 MedDRA:10031302 GARD:0005865 MedDRA:10031303" http://identifiers.org/hgnc/11335 GO:0000228 "A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact." UBERON:0000389 HP:0011283 "An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum." "UMLS:C4023432" MONDO:0014448 "An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4." "OMIM:615999 SCTID:237547004 MESH:D050010 Orphanet:276271 NCIT:C131813" GO:0080134 "Any process that modulates the frequency, rate or extent of a response to stress. Response to stress is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation)." -MONDO:0017687 "An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport." "ICD10:E72.0 Orphanet:308451 UMLS:CN203583" +MONDO:0017687 "An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport." "Orphanet:308451 ICD10CM:E72.0 UMLS:CN203583" MONDO:0023193 "GARD:0002387" -MONDO:0019956 "An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes." "DOID:9588 ICD10:A85 Orphanet:97275 ICD9:323.9 UMLS:C0014038 ICD9:323.8 SCTID:45170000 NCIT:C26760 ICD9:323.0 MedDRA:10014581 MESH:D004660" +MONDO:0019956 "An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes." "DOID:9588 Orphanet:97275 ICD9:323.9 UMLS:C0014038 ICD9:323.8 ICD10CM:A85 SCTID:45170000 NCIT:C26760 ICD9:323.0 MedDRA:10014581 MESH:D004660" http://identifiers.org/hgnc/445 MONDO:0008609 "OMIM:190800" UBERON:0001586 -MONDO:0013981 "A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent." "ICD10:G25.3 UMLS:C3539916 OMIMPS:614937 SCTID:763770005 Orphanet:319189" +MONDO:0013981 "A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent." "UMLS:C3539916 OMIMPS:614937 SCTID:763770005 ICD10CM:G25.3 Orphanet:319189" MONDO:0017199 "Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family." "UMLS:C4274786 UMLS:CN202651 Orphanet:2787 SCTID:716189005" -MONDO:0020435 "ICD9:746.89 GARD:0010697 SCTID:40272001 ICD10:Q21.1 Orphanet:99104" +MONDO:0020435 "ICD10CM:Q21.1 ICD9:746.89 GARD:0010697 SCTID:40272001 Orphanet:99104" MONDO:0024392 "SCTID:236746000 UMLS:C0403764" http://identifiers.org/hgnc/13997 -MONDO:0006543 "A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes." "ICD10:Q81.2 ICD9:757.39 GARD:0002150 Orphanet:303 Wikipedia:Epidermolysis_bullosa_dystrophica EFO:1000692 SCTID:254185007 NCIT:C84691 DOID:4959 MESH:D016108" +MONDO:0006543 "A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes." "ICD9:757.39 GARD:0002150 Orphanet:303 Wikipedia:Epidermolysis_bullosa_dystrophica EFO:1000692 SCTID:254185007 NCIT:C84691 DOID:4959 MESH:D016108" MONDO:0002626 "A neoplasm involving a accessory XI nerve spinal component." "UMLS:C1263902 ICD9:239.7 SCTID:126977003 NCIT:C5829 DOID:337" UBERON:0000124 MONDO:0025377 "A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros)." "MESH:D000357 UMLS:C0001752" ECTO:0500025 "A exposure event involving the interaction of an exposure receptor to manufactured product." MONDO:0005347 "A laboratory test result indicating elevated triglyceride concentration in the blood." "MESH:D015228 EFO:0004211 SCTID:302870006 NCIT:C37971 UMLS:C0020557 HP:0002155" MONDO:0021896 "GARD:0009653 MESH:C537776 UMLS:C2931608" -MONDO:0020497 "Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions." "Orphanet:99818 ICD10:D12.6 UMLS:CN207386 OMIM:175100" +MONDO:0020497 "Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions." "Orphanet:99818 ICD10CM:D12.6 UMLS:CN207386 OMIM:175100" UBERON:0035109 http://identifiers.org/hgnc/12799 MONDO:0023194 "GARD:0001680 MESH:C538062" MONDO:0006207 "A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." "NCIT:C40124 UMLS:C1517117 DOID:1970 EFO:1000252" NCBITaxon:6318 "GC_ID:1" MONDO:0030270 "OMIM:619319" -MONDO:0020436 "GARD:0010696 ICD10:Q21.1 Orphanet:99105 MESH:C548009 SCTID:95268002" +MONDO:0020436 "ICD10CM:Q21.1 GARD:0010696 Orphanet:99105 MESH:C548009 SCTID:95268002" UBERON:0001585 -MONDO:0016983 "Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)" "UMLS:C3715128 ICD10:E26.8 Orphanet:263417 OMIM:601198" -MONDO:0018249 "Orphanet:369979 ICD10:Q87.2 UMLS:CN204822" +MONDO:0016983 "Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)" "UMLS:C3715128 Orphanet:263417 OMIM:601198 ICD10CM:E26.8" +MONDO:0018249 "Orphanet:369979 ICD10CM:Q87.2 UMLS:CN204822" CL:2000045 "Any melanocyte that is part of a prepuce of penis." MONDO:0002789 "A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." "DOID:3850 NCIT:C7076 EFO:1000289 UMLS:C0476144" http://identifiers.org/hgnc/11599 @@ -24193,9 +24177,9 @@ CHEBI:33259 "A molecular entity all atoms of which have the same atomic number." http://identifiers.org/hgnc/12796 CHR:9606-chr15q1 MONDO:0002991 "A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma." "NCIT:C40035 UMLS:C1510778 DOID:4422" -MONDO:0016422 "Autoimmune polyendocrinopathy type 3 is a rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease." "ICD9:258.1 ICD10:E31.0 Orphanet:227982 UMLS:C1535942 GARD:0010980 UMLS:C3266027 SCTID:449731009" +MONDO:0016422 "Autoimmune polyendocrinopathy type 3 is a rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease." "ICD9:258.1 Orphanet:227982 UMLS:C1535942 GARD:0010980 UMLS:C3266027 SCTID:449731009 ICD10CM:E31.0" http://identifiers.org/hgnc/443 -MONDO:0019208 "Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma)." "SCTID:427086003 ICD10:G61.0 UMLS:C1960543 Orphanet:79138 ICD9:323.81" +MONDO:0019208 "Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma)." "SCTID:427086003 ICD10CM:G61.0 UMLS:C1960543 Orphanet:79138 ICD9:323.81" MONDO:0003428 "A hemangioma arising from the brain." "UMLS:C0238814 DOID:5393 NCIT:C7739" http://identifiers.org/hgnc/12530 MONDO:0044406 "Orphanet:3200 OMIM:601701 GARD:0005029" @@ -24207,40 +24191,40 @@ MONDO:0004519 "A rare hemangioma arising from synovium lining surfaces." "UMLS:C GO:0045606 "Any process that activates or increases the frequency, rate or extent of epidermal cell differentiation." MONDO:0004548 "A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases." "UMLS:C1515284 DOID:8394 NCIT:C39946" PATO:0000627 "A spatial pattern quality inhering in a bearer by virtue of the bearer's being confined or restricted to a particular location." -MONDO:0014753 "ICD10:H47.2 OMIM:612989 OMIM:616289 OMIM:258500 OMIM:616732 OMIM:617302 UMLS:CN229293 Orphanet:98676" +MONDO:0014753 "ICD10CM:H47.2 OMIM:612989 OMIM:616289 OMIM:258500 OMIM:616732 OMIM:617302 UMLS:CN229293 Orphanet:98676" GO:0007288 "The assembly and organization of the sperm flagellar axoneme, the bundle of microtubules and associated proteins that forms the core of the eukaryotic sperm flagellum, and is responsible for movement." http://identifiers.org/hgnc/11598 MONDO:0002935 "A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans." "NCIT:C39961 DOID:4277 UMLS:C1518949" -MONDO:0006823 "A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present." "MESH:D007713 DOID:1921 SCTID:405769009 ICD9:758.7 MedDRA:10023463 ICD10:Q98.0 ICD10:Q98.4 UMLS:C0022735 NCIT:C34752 EFO:1001006" +MONDO:0006823 "A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present." "MESH:D007713 DOID:1921 SCTID:405769009 ICD9:758.7 MedDRA:10023463 UMLS:C0022735 NCIT:C34752 EFO:1001006" UBERON:0000388 MONDO:0100134 -MONDO:0013312 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene." "UMLS:C3150808 OMIM:613575 DOID:0110370 ICD10:H35.5" +MONDO:0013312 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene." "UMLS:C3150808 OMIM:613575 DOID:0110370" MONDO:0043207 "UMLS:C0265363 MESH:C536477 GARD:0005428 SCTID:18241005" -MONDO:0012084 "Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction." "SCTID:237922009 ICD10:G24.8 GARD:0000770 DOID:0090123 Orphanet:35708 OMIM:608643 NCIT:C142085 ICD9:270.8 GARD:770 MESH:C537437" +MONDO:0012084 "Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction." "SCTID:237922009 GARD:0000770 DOID:0090123 Orphanet:35708 OMIM:608643 NCIT:C142085 ICD10CM:G24.8 ICD9:270.8 GARD:770 MESH:C537437" MONDO:0011158 "Orphanet:3261 OMIM:601859 SCTID:702444009 UMLS:C1328840 ICD9:279.41" HP:0000991 "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin." "SNOMEDCT_US:63103006 UMLS:C0043325 MSH:D014973" UBERON:0000122 UBERON:0005281 -MONDO:0006962 "An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize." "DOID:4840 ICDO:8410/3 ONCOTREE:SEBA DOID:4839 UMLS:C0206684 EFO:1001171 NCIT:C40310 MESH:D018266 NCIT:C8409 ICD10:C44 UMLS:C1382026 SCTID:307599002" +MONDO:0006962 "An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize." "DOID:4840 ICDO:8410/3 ONCOTREE:SEBA DOID:4839 UMLS:C0206684 EFO:1001171 NCIT:C40310 MESH:D018266 NCIT:C8409 UMLS:C1382026 SCTID:307599002" HP:0002438 "UMLS:C4025708" ECTO:0000557 "An exposure to inhibitor." MONDO:0011326 "Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern." "GARD:0010215 DOID:0070342 Orphanet:247585 OMIM:603471" GO:0030414 "Binds to and stops, prevents or reduces the activity of a peptidase, any enzyme that catalyzes the hydrolysis peptide bonds." -MONDO:0019027 "Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." "ICD10:Q87.0 Orphanet:669 OMIM:311300 SCTID:767130007 UMLS:CN205496 OMIM:304120 GARD:0007293" +MONDO:0019027 "Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders." "Orphanet:669 OMIM:311300 SCTID:767130007 ICD10CM:Q87.0 UMLS:CN205496 OMIM:304120 GARD:0007293" MONDO:0024390 -MONDO:0018017 "Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis." "ICD10:C18.1 GARD:0010414 Orphanet:329984" -MONDO:0001191 "An disease or disorder caused by infection with Hirudinea." "SCTID:64351000 DOID:11079 ICD9:134.2 ICD10:B88.3 UMLS:C0019575" +MONDO:0018017 "Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis." "ICD10CM:C18.1 GARD:0010414 Orphanet:329984" +MONDO:0001191 "An disease or disorder caused by infection with Hirudinea." "SCTID:64351000 DOID:11079 ICD9:134.2 UMLS:C0019575" UBERON:0003984 MONDO:0005925 "Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal." "UMLS:C0036969 EFO:0007449 MESH:D012766" -MONDO:0013954 "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene." "Orphanet:319558 UMLS:C4013948 OMIM:614890 ICD10:D84.8" -MONDO:0020438 "UMLS:C0521533 Orphanet:99107 ICD10:Q21.1 SCTID:95440004" -MONDO:0006580 "A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands." "Wikipedia:Miliaria MESH:D008883 SCTID:63951004 EFO:1000734 ICD10:L74.3 NCIT:C34820 UMLS:C0026113 DOID:1382" +MONDO:0013954 "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene." "Orphanet:319558 UMLS:C4013948 ICD10CM:D84.8 OMIM:614890" +MONDO:0020438 "ICD10CM:Q21.1 UMLS:C0521533 Orphanet:99107 SCTID:95440004" +MONDO:0006580 "A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands." "Wikipedia:Miliaria MESH:D008883 SCTID:63951004 EFO:1000734 NCIT:C34820 UMLS:C0026113 DOID:1382" MONDO:0000370 -MONDO:0025193 "Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown." "Orphanet:98897 MESH:C563508 SCTID:763829004 GARD:0012592 UMLS:C1834014 OMIMPS:164310 ICD10:G71.0" -MONDO:0018247 "OMIM:300475 GARD:0012472 Orphanet:369942 UMLS:CN180200 ICD10:Q87.8" +MONDO:0025193 "Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown." "Orphanet:98897 ICD10CM:G71.0 MESH:C563508 SCTID:763829004 GARD:0012592 UMLS:C1834014 OMIMPS:164310" +MONDO:0018247 "OMIM:300475 GARD:0012472 Orphanet:369942 UMLS:CN180200 ICD10CM:Q87.8" MONDO:0003692 "A malignant mesenchymoma occurring in adults." "UMLS:C0279548 DOID:5894 NCIT:C7947" MONDO:0007408 "OMIM:123557 MESH:C565140 UMLS:C1852455" -MONDO:0003107 "Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces." "DOID:4706 UMLS:C0751593 ICD10:C71.7 MESH:D015192 NCIT:C4966" +MONDO:0003107 "Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces." "DOID:4706 UMLS:C0751593 MESH:D015192 NCIT:C4966" ECTO:0000931 "An exposure to environmental contaminant." MONDO:0036781 "A non-metastasizing neoplasm that arises from the structures of the axilla." "NCIT:C35750 UMLS:C0684828" CL:0000821 "A B-1 B cell that has the phenotype CD5-negative, but having other phenotypic attributes of a B-1 B cell." @@ -24249,16 +24233,16 @@ NCIT:C15330 MONDO:0014902 "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene." "OMIM:617075" CL:0011111 "Neuroendocrine cells that are born in the nasal placode during embryonic development and migrate through the nose and forebrain to the hypothalamus, where they regulate reproduction." MONDO:0012358 "Orphanet:548 OMIM:609888" -MONDO:0018378 "An area of necrotic bone in the mandible or maxilla." "NCIT:C63924 Orphanet:399293 UMLS:C2711248 ICD9:733.45 SCTID:441809006 ICD10:K10.2" +MONDO:0018378 "An area of necrotic bone in the mandible or maxilla." "NCIT:C63924 Orphanet:399293 UMLS:C2711248 ICD9:733.45 SCTID:441809006" GO:0033059 "The deposition or aggregation of coloring matter in a cell." MONDO:0022832 "GARD:0001484" GO:1905330 "Any process that modulates the frequency, rate or extent of morphogenesis of an epithelium." MONDO:0007974 "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures." "NCIT:C141424 MESH:C566947 DOID:0070031 OMIM:156200 Orphanet:228402" MONDO:0014755 "OMIM:616734" -MONDO:0017152 "OBSOLETE. Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery." "SCTID:697905000 UMLS:C3697119 ICD9:416.8 Orphanet:275803 EFO:0009054 ICD10:I27.2 UMLS:CN243982" +MONDO:0017152 "OBSOLETE. Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery." "SCTID:697905000 UMLS:C3697119 ICD9:416.8 Orphanet:275803 ICD10CM:I27.2 EFO:0009054 UMLS:CN243982" MONDO:0006856 "A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003" "MESH:D018301 UMLS:C3714739 NCIT:C3786 EFO:1001044" MONDO:0002738 "Acute form of non-suppurative otitis media." "UMLS:C0271432 DOID:3697 ICD9:381.0 SCTID:359609001 ICD9:381.00 UMLS:C2939185" -MONDO:0012277 "Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases." "MESH:C563718 Orphanet:98912 OMIM:609452 GARD:0001886 ICD10:G71.8 DOID:0080095 UMLS:C1836155" +MONDO:0012277 "Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases." "ICD10CM:G71.8 MESH:C563718 Orphanet:98912 OMIM:609452 GARD:0001886 DOID:0080095 UMLS:C1836155" GO:0048845 "The process in which the anatomical structures of venous blood vessels are generated and organized. Veins are blood vessels that transport blood from the body and its organs to the heart." NCBITaxon:194924 "PMID:16403855 GC_ID:11" MONDO:0007131 "Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant." "MESH:C566278 Orphanet:69125 UMLS:C1862844 OMIM:106750" @@ -24267,52 +24251,52 @@ MONDO:0020173 "A benign neoplasm that involves the skin of eyelid." "UMLS:CN2070 HP:0031481 "Any functional anomaly of the mitral valve." MONDO:0022831 "GARD:0001483" MONDO:0020698 -MONDO:0016912 "Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14." "Orphanet:262110 GARD:0003722 ICD10:Q93.5" +MONDO:0016912 "Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14." "ICD10CM:Q93.5 Orphanet:262110 GARD:0003722" UBERON:0000383 MONDO:0004411 "A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." "EFO:1000224 DOID:7959 NCIT:C5731 UMLS:C1333321" GO:0051351 "Any process that activates or increases the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate." MONDO:0021665 "OBSOLETE. A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy." "NCIT:C85043" MONDO:0002371 "A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures." "UMLS:C0334497 DOID:2639 ICDO:9012/0 NCIT:C4272" MONDO:0015212 "A intestinal malformation that is part of a larger syndrome." "UMLS:CN226629 Orphanet:108969" -MONDO:0015249 "A congenital heart defect characterized by the complete atresia of the mitral valve." "ICD10:Q23.2 Orphanet:1205 HP:0011560 NCIT:C98992 SCTID:23063005 GARD:0003685" +MONDO:0015249 "A congenital heart defect characterized by the complete atresia of the mitral valve." "ICD10CM:Q23.2 Orphanet:1205 HP:0011560 NCIT:C98992 SCTID:23063005 GARD:0003685" MONDO:0006366 "A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium." "NCIT:C36205 UMLS:C1335398 EFO:1000471" MONDO:0004041 "A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium." "ONCOTREE:UPA ICDO:8120/1 DOID:6933 NCIT:C3842" -MONDO:0008283 "Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation." "NCIT:C7035 SCTID:76304001 MESH:D044483 Orphanet:2930 ICD10:D12.6 OMIM:175500 MedDRA:10062907 DOID:6225 GARD:0004427 UMLS:C0282207" +MONDO:0008283 "Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation." "NCIT:C7035 ICD10CM:D12.6 SCTID:76304001 MESH:D044483 Orphanet:2930 OMIM:175500 MedDRA:10062907 DOID:6225 GARD:0004427 UMLS:C0282207" MONDO:0016731 "Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures." "UMLS:CN201979 Orphanet:251940" -MONDO:0017047 "GARD:0002996 Orphanet:2679 ICD10:G60.8" +MONDO:0017047 "GARD:0002996 Orphanet:2679 ICD10CM:G60.8" UBERON:0001584 -MONDO:0014248 "SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21)." "UMLS:C3809910 OMIM:615553 ICD10:Q87.8 Orphanet:370943" +MONDO:0014248 "SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21)." "ICD10CM:Q87.8 UMLS:C3809910 OMIM:615553 Orphanet:370943" GO:0010672 "Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle." MONDO:0016948 "Orphanet:262785" http://identifiers.org/hgnc/11336 MONDO:0014757 "Orphanet:487796 UMLS:C4225222 OMIM:616737" -MONDO:0007083 "Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." "OMIM:104100 Orphanet:1010 GARD:0000604 SCTID:719518004 ICD10:Q82.8" -MONDO:0018246 "UMLS:CN204808 ICD10:Q93.5 Orphanet:369886" +MONDO:0007083 "Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." "OMIM:104100 Orphanet:1010 GARD:0000604 ICD10CM:Q82.8 SCTID:719518004" +MONDO:0018246 "UMLS:CN204808 Orphanet:369886 ICD10CM:Q93.5" http://identifiers.org/hgnc/13733 -MONDO:0005699 "A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses." "ICD9:039.3 NCIT:C34351 MESH:D000197 UMLS:C0001264 EFO:0007203 ICD10:A42.2 SCTID:23014006" -MONDO:0002133 "Chronic form of rheumatic pericarditis." "ICD10:I09.2 SCTID:78069008 UMLS:C0155561 DOID:1869 ICD9:393" +MONDO:0005699 "A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses." "ICD9:039.3 NCIT:C34351 MESH:D000197 UMLS:C0001264 EFO:0007203 ICD10CM:A42.2 SCTID:23014006" +MONDO:0002133 "Chronic form of rheumatic pericarditis." "SCTID:78069008 UMLS:C0155561 DOID:1869 ICD10CM:I09.2 ICD9:393" MONDO:0023196 "GARD:0002389" UBERON:0003980 -MONDO:0018173 "Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication." "Orphanet:35889 UMLS:CN227277 ICD10:T40.1 ICD10:T40.0 ICD10:T40.2" +MONDO:0018173 "Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication." "ICD10CM:T40.0 Orphanet:35889 UMLS:CN227277 ICD10CM:T40.1 ICD10CM:T40.2" MONDO:0004181 "An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present." "UMLS:C1511283 NCIT:C40391 DOID:7312" NCBITaxon:1868215 "GC_ID:1" MONDO:0021632 "ONCOTREE:PBT NCIT:C4952" -MONDO:0000170 "A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." "Orphanet:98938 ICD10:Q11.2 OMIMPS:300345 OMIM:251505 OMIM:611638 OMIM:605738 OMIM:300345 OMIM:601186 OMIM:613703 OMIM:614497 OMIM:615145 GARD:0003644 OMIM:610092 UMLS:CN228419 MESH:C537463 OMIM:616428" +MONDO:0000170 "A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma." "Orphanet:98938 OMIMPS:300345 OMIM:251505 OMIM:611638 OMIM:605738 OMIM:300345 OMIM:601186 OMIM:613703 OMIM:614497 OMIM:615145 GARD:0003644 OMIM:610092 UMLS:CN228419 MESH:C537463 OMIM:616428 ICD10CM:Q11.2" CHEBI:60164 "An ionic polymer is a polymer, composed of ionic macromolecules." MONDO:0004987 "A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003" "ICD9:239.4 UMLS:C0005695 SCTID:126885006 EFO:0000294 NCIT:C2901" MONDO:0013160 "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan." "OMIM:613156 Orphanet:370959 Orphanet:370968 NCIT:C126690 UMLS:C3150416" -MONDO:0007120 "Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." "ICD10:Q87.8 UMLS:C1862868 Orphanet:1069 MESH:C566281 GARD:0000685 OMIM:106220" -MONDO:0018596 "Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement." "ICD10:M30.0 Orphanet:439762 UMLS:CN242146 UMLS:C0031036" +MONDO:0007120 "Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975." "UMLS:C1862868 Orphanet:1069 MESH:C566281 GARD:0000685 OMIM:106220 ICD10CM:Q87.8" +MONDO:0018596 "Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement." "ICD10CM:M30.0 Orphanet:439762 UMLS:CN242146 UMLS:C0031036" MONDO:0021126 "An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features." CL:0002576 "A myofibroblast that lies in the connective tissue of the spinal cord that has a distinctly lamellar arrangement." GO:0051302 "Any process that modulates the frequency, rate or extent of the physical partitioning and separation of a cell into daughter cells." GO:0002833 "Any process that activates or increases the frequency, rate, or extent of a response to biotic stimulus." -MONDO:0003231 "A poliomyelitis that does not exhibit paralysis." "ICD10:A80.4 DOID:4986 UMLS:C0152998 ICD9:045.22 ICD9:045.20 ICD9:045.2 ICD9:045.23 SCTID:14535005" +MONDO:0003231 "A poliomyelitis that does not exhibit paralysis." "DOID:4986 UMLS:C0152998 ICD9:045.22 ICD9:045.20 ICD9:045.2 ICD9:045.23 SCTID:14535005 ICD10CM:A80.4" MONDO:0020692 "OMIM:277300" NCBITaxon:52282 "GC_ID:1" -MONDO:0001719 "An bursitis caused by infection with Neisseria gonorrhoeae." "UMLS:C0153218 SCTID:46699001 ICD10:M73.0 ICD10:A54.49 ICD9:098.52 DOID:13453" +MONDO:0001719 "An bursitis caused by infection with Neisseria gonorrhoeae." "UMLS:C0153218 SCTID:46699001 ICD9:098.52 DOID:13453" MONDO:0004073 -MONDO:0002511 "ICD10:H04.57 SCTID:11772001 ICD10:H04.579 DOID:3096 ICD9:375.54" +MONDO:0002511 "SCTID:11772001 ICD9:375.54 DOID:3096" SO:0000159 "The point at which one or more contiguous nucleotides were excised." UBERON:0015717 MONDO:0000116 @@ -24320,14 +24304,14 @@ MONDO:0002777 HP:0011042 "An abnormal concentration of potassium." "UMLS:C4023575" http://identifiers.org/hgnc/5950 GO:0044403 "A process carried out by gene products in an organism that enable the organism to engage in a symbiotic relationship, a more or less intimate association, with another organism. The various forms of symbiosis include parasitism, in which the association is disadvantageous or destructive to one of the organisms; mutualism, in which the association is advantageous, or often necessary to one or both and not harmful to either; and commensalism, in which one member of the association benefits while the other is not affected. However, mutualism, parasitism, and commensalism are often not discrete categories of interactions and should rather be perceived as a continuum of interaction ranging from parasitism to mutualism. In fact, the direction of a symbiotic interaction can change during the lifetime of the symbionts due to developmental changes as well as changes in the biotic/abiotic environment in which the interaction occurs. Microscopic symbionts are often referred to as endosymbionts." -MONDO:0010028 "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." "DOID:3659 MedDRA:10067529 GARD:0004865 ICD9:796.4 SCTID:238051008 Orphanet:3166 OMIM:604369 NCIT:C85067 ICD10:E77.8 OMIM:269921" +MONDO:0010028 "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." "DOID:3659 MedDRA:10067529 GARD:0004865 ICD9:796.4 SCTID:238051008 Orphanet:3166 OMIM:604369 ICD10CM:E77.8 NCIT:C85067 OMIM:269921" MONDO:0013619 "Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene." "DOID:0080384 UMLS:C3280100 OMIM:614196" UBERON:0000382 GO:2000847 "Any process that stops, prevents or reduces the frequency, rate or extent of corticosteroid hormone secretion." GO:0003331 "Any process that increases the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells." CL:1001578 "Squamous cell of vaginal epithelium." "CALOHA:TS-1254" NCBITaxon:11155 "GC_ID:1" -MONDO:0001579 "SCTID:52476003 ICD10:H18.72 ICD9:371.73 DOID:12753 UMLS:C0152440" +MONDO:0001579 "SCTID:52476003 ICD9:371.73 DOID:12753 UMLS:C0152440" GO:0045647 "Any process that stops, prevents, or reduces the frequency, rate or extent of erythrocyte differentiation." NCBITaxon:52283 "GC_ID:1" CL:0000980 "An activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative." "FMA:84371" @@ -24338,16 +24322,16 @@ http://identifiers.org/hgnc/25947 NCBITaxon:222543 "PMID:17572334 GC_ID:1" MONDO:0044113 "A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption." "EFO:0008619 Orphanet:46489 NCIT:C117104 UMLS:C0409977 SCTID:239889005" MONDO:0020067 "An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi." "ICD9:323.4 MESH:D000069544 SCTID:312215006 ICD9:049.8 NCIT:C79550" -MONDO:0019866 "Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated." "SCTID:764629008 MESH:C537762 ICD10:Q92.1 Orphanet:96060" +MONDO:0019866 "Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated." "SCTID:764629008 MESH:C537762 Orphanet:96060 ICD10CM:Q92.1" MONDO:0005270 CHEBI:26666 "An aliphatic monocarboxylic acid with a chain length of less than C6. If any non-hydrocarbon substituent is present, the compound is not normally regarded as a short-chain fatty acid." http://identifiers.org/hgnc/12791 MONDO:0011151 "OMIM:601813 DOID:0111411 Orphanet:891 UMLS:C1866176 MESH:C566619" MONDO:0005273 -MONDO:0005072 "Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system." "OMIM:613016 NCIT:C3270 OMIM:613013 Orphanet:635 ICD10:C74.9 MESH:D009447 UMLS:C0027819 OMIM:613014 OMIM:613015 OMIM:613017 NIFSTD:birnlex_12631 ICDO:9500/3 ONCOTREE:NBL OMIM:256700 SCTID:432328008 DOID:769 UMLS:CN205405 GARD:0007185 OMIM:616792 EFO:0000621 MedDRA:10029260" -MONDO:0016505 "An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness." "UMLS:CN226945 NCIT:C48451 MedDRA:10056950 MESH:D018246 Orphanet:231625 ICD10:E26.0 EFO:1000015 UMLS:C1706762 ICD10:C74.0" -MONDO:0025598 "An pneumonia caused by infection with Chlamydia." "ICD9:483.1 DOID:0040083 UMLS:C0339959 ICD10:J16.0 MESH:D061387 SCTID:233609002" -MONDO:0001578 "ICD9:620.4 ICD10:N83.4 DOID:12735" +MONDO:0005072 "Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system." "OMIM:613016 NCIT:C3270 OMIM:613013 Orphanet:635 MESH:D009447 UMLS:C0027819 OMIM:613014 OMIM:613015 OMIM:613017 NIFSTD:birnlex_12631 ICDO:9500/3 ONCOTREE:NBL OMIM:256700 SCTID:432328008 DOID:769 UMLS:CN205405 ICD10CM:C74.9 GARD:0007185 OMIM:616792 EFO:0000621 MedDRA:10029260" +MONDO:0016505 "An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness." "ICD10CM:C74.0 UMLS:CN226945 NCIT:C48451 ICD10CM:E26.0 MedDRA:10056950 MESH:D018246 Orphanet:231625 EFO:1000015 UMLS:C1706762" +MONDO:0025598 "An pneumonia caused by infection with Chlamydia." "ICD9:483.1 DOID:0040083 UMLS:C0339959 MESH:D061387 SCTID:233609002" +MONDO:0001578 "ICD9:620.4 DOID:12735" MONDO:0021297 "A in situ carcinoma that involves the nasopharynx." "NCIT:C9099 UMLS:C0347096 UMLS:C4331312 SCTID:92664001" MONDO:0000114 MONDO:0005688 "Infections with bacteria of the genus campylobacter." "SCTID:86500004 MESH:D002169 DOID:13622 EFO:0007190 UMLS:C0006818" @@ -24357,20 +24341,20 @@ NCBITaxon:11158 "GC_ID:1" NCBITaxon:222544 "GC_ID:1" CL:0000151 "A cell that specializes in controlled release of one or more substances." "FMA:86916 BTO:0003659" GO:0032504 "The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents." -MONDO:0004713 "A cancer involving a gingiva of lower jaw." "ICD9:143.1 UMLS:C0432581 SCTID:363384006 DOID:9125 ICD10:C03.1" +MONDO:0004713 "A cancer involving a gingiva of lower jaw." "ICD9:143.1 UMLS:C0432581 SCTID:363384006 DOID:9125" MONDO:0014815 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene." "UMLS:C4225168 OMIM:616887" UBERON:0006219 -MONDO:0002070 "The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired." "SCTID:30288003 ICD10:Q21.0 OMIM:614429 MESH:D006345 ICD9:745.4 HP:0001629 DOID:1657 OMIM:614431 OMIM:614432 NCIT:C84506 OMIMPS:614429 GARD:0007853 Orphanet:1480" +MONDO:0002070 "The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired." "SCTID:30288003 OMIM:614429 MESH:D006345 ICD9:745.4 HP:0001629 DOID:1657 OMIM:614431 OMIM:614432 NCIT:C84506 OMIMPS:614429 GARD:0007853 Orphanet:1480" MONDO:0003974 MONDO:0001311 -MONDO:0005784 "A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision." "NCIT:C84753 EFO:0007299 ICD10:A98.5 SCTID:102455002 DOID:11266 ICD9:078.6" +MONDO:0005784 "A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision." "NCIT:C84753 EFO:0007299 SCTID:102455002 DOID:11266 ICD10CM:A98.5 ICD9:078.6" NCBITaxon:52281 "GC_ID:1" -MONDO:0011150 "MESH:C536653 UMLS:C1866182 Orphanet:363665 GARD:0004498 OMIM:601812 GARD:0004276 ICD10:E34.8" +MONDO:0011150 "ICD10CM:E34.8 MESH:C536653 UMLS:C1866182 Orphanet:363665 GARD:0004498 OMIM:601812 GARD:0004276" MONDO:0013135 "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene." "MESH:C567752 Orphanet:540 OMIM:613101 DOID:0110925 UMLS:C2751293" ECTO:0001591 "An exposure event involving Occupation" MONDO:0001536 "A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "NCIT:C6373 DOID:125 UMLS:C1336939" MONDO:0006754 "A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus." "DOID:13185 UMLS:C0917875 MESH:D045723 EFO:1000930" -MONDO:0001914 "A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur." "ICD10:H15.05 ICD9:379.04 SCTID:26664005 DOID:14230 UMLS:C0155354" +MONDO:0001914 "A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur." "ICD9:379.04 SCTID:26664005 DOID:14230 UMLS:C0155354" MONDO:0010104 "Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears." "SCTID:723442008 GARD:0005027 GARD:0005127 UMLS:C1848903 OMIM:273050 Orphanet:2972" GO:0044065 "Any process that modulates the frequency, rate or extent of a respiratory system process, an organ system process carried out by any of the organs or tissues of the respiratory system." MONDO:0000113 @@ -24383,11 +24367,11 @@ MONDO:0014579 "Any Senior-Loken syndrome in which the cause of the disease is a MONDO:0000252 "An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa." "DOID:0050132 SCTID:95544006" MONDO:0006393 "An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia." "EFO:1000503 NCIT:C96463 UMLS:C3272790" GO:0050709 "Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a protein from a cell." -MONDO:0008048 "Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." "Orphanet:169189 OMIM:160150 NCIT:C126689 ICD10:G71.2 SCTID:716696006 OMIM:614408 DOID:0111217 UMLS:C1834558 GARD:0012719" -MONDO:0001873 "Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation." "ICD10:G51.1 DOID:14075 ICD9:351.1 SCTID:72839009 MESH:D005155 UMLS:C0017407" +MONDO:0008048 "Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." "Orphanet:169189 OMIM:160150 UMLS:C1834558 GARD:0012719 ICD10CM:G71.2 DOID:0111217 OMIM:614408 NCIT:C126689 SCTID:716696006" +MONDO:0001873 "Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation." "ICD10CM:G51.1 DOID:14075 ICD9:351.1 SCTID:72839009 MESH:D005155 UMLS:C0017407" NCIT:C37123 -MONDO:0004685 "A malignant neoplasm involving the tonsillar ring." "SCTID:187716008 ICD9:149.1 DOID:8937 ICD10:C14.2 UMLS:C0153406" -MONDO:0013298 "The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." "SCTID:716683005 DOID:0060434 OMIM:613533 UMLS:C4274345 Orphanet:217340 UMLS:C3150787 ICD10:Q92.3" +MONDO:0004685 "A malignant neoplasm involving the tonsillar ring." "SCTID:187716008 ICD9:149.1 DOID:8937 ICD10CM:C14.2 UMLS:C0153406" +MONDO:0013298 "The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." "SCTID:716683005 DOID:0060434 OMIM:613533 UMLS:C4274345 Orphanet:217340 UMLS:C3150787" GO:0051353 "Any process that activates or increases the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered." NCBITaxon:11157 "GC_ID:1" MONDO:0007999 "A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene." "Orphanet:2162 DOID:0110872 NCIT:C74995 OMIM:157170 UMLS:C1834877 MESH:C563579" @@ -24395,48 +24379,47 @@ GO:0006165 "The process of introducing a phosphate group into a nucleoside dipho MONDO:0021027 "An instance of hair anomaly that is caused by a modification of the individual's genome." "Orphanet:183450" UBERON:0006218 NCBITaxon:222545 "GC_ID:1" -MONDO:0001310 "UMLS:C0155115 ICD10:H18.31 SCTID:45382000 DOID:11552 ICD9:371.31" +MONDO:0001310 "UMLS:C0155115 SCTID:45382000 DOID:11552 ICD9:371.31" GO:1903055 "Any process that activates or increases the frequency, rate or extent of extracellular matrix organization." GO:1904950 "Any process that stops, prevents or reduces the frequency, rate or extent of establishment of protein localization." FOODON:03420164 "Anatomical part of an animal; includes eggs and milk that, although separated from the animal, are produced as integral parts and are affected by the animal's food intake and metabolism."@en NCBITaxon:85512 "GC_ID:1" -MONDO:0008092 "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34." "MESH:C563010 SCTID:129639005 UMLS:C0543669 Orphanet:279943 OMIM:162830 DOID:0090120 ICD10:D72.8" +MONDO:0008092 "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34." "MESH:C563010 SCTID:129639005 Orphanet:279943 UMLS:C0543669 ICD10CM:D72.8 OMIM:162830 DOID:0090120" MONDO:0002112 "A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent." "NCIT:C7354 DOID:1789 NCIT:C7633" MONDO:0045028 "OBSOLETE. A disease or disorder that is induced by either chemical or radiation exposure." -MONDO:0005485 "An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities." "ICD9:298.8 HP:0000709 NCIT:C78576 EFO:0005407 DOID:2468 EFO:0000677 ICD9:298.9 SCTID:69322001" +MONDO:0005485 "An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities." "ICD9:298.8 HP:0000709 ICD10CM:F20-F29 NCIT:C78576 EFO:0005407 DOID:2468 EFO:0000677 ICD9:298.9 SCTID:69322001" HP:0001751 "An abnormality of the functioning of the vestibular apparatus." "UMLS:C1843865" MONDO:0023283 "A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." "SCTID:254863004 NCIT:C6261 EFO:1000421 UMLS:C1370419 MESH:C537296" -MONDO:0013268 "Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." "OMIM:613451 GARD:0012641 Orphanet:228390 SCTID:725029001 UMLS:C3150703 ICD10:Q87.0" -MONDO:0019838 "An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period." "ICD10:E23.6 Orphanet:95512" +MONDO:0013268 "Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." "OMIM:613451 GARD:0012641 ICD10CM:Q87.0 Orphanet:228390 SCTID:725029001 UMLS:C3150703" +MONDO:0019838 "An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period." "ICD10CM:E23.6 Orphanet:95512" MONDO:0000112 -MONDO:0002773 MONDO:0012350 "Orphanet:200421 Orphanet:93579 Orphanet:54370 Orphanet:329918 OMIM:609814 MESH:C562875 Orphanet:93571 SCTID:234622003 ICD9:279.8 Orphanet:2134" http://identifiers.org/hgnc/29643 GO:0008289 "Binding to a lipid." MONDO:0004958 "A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status." "UMLS:C0585362 SCTID:307502000 ONCOTREE:OCSC DOID:0050866 EFO:0000199 GARD:0007263 OMIM:275355 NCIT:C4833 Orphanet:502363" MONDO:0004212 "A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor." "NCIT:C40288 DOID:7408 UMLS:C1520086" -MONDO:0012456 "Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents." "DOID:11367 GARD:0009952 ICD9:743.35 MESH:C537786 Orphanet:83461 OMIM:610256 ICD10:Q12.3 MedDRA:10002947 SCTID:35387008 NCIT:C35172" +MONDO:0012456 "Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents." "DOID:11367 GARD:0009952 ICD9:743.35 MESH:C537786 Orphanet:83461 OMIM:610256 ICD10CM:Q12.3 MedDRA:10002947 SCTID:35387008 NCIT:C35172" MONDO:0043243 "A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition." "GARD:0006897 UMLS:C0023531 SCTID:274134003 MESH:D007971 NCIT:C3186" ENVO:01001090 "A process during which microscopic solid particulates are formed from gaseous materials in an atmosphere." -MONDO:0008644 "A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features." "UMLS:CN205308 ICD10:Q93.81 Orphanet:567 OMIM:192430 MESH:D004062 ICD9:758.32 DOID:12583" +MONDO:0008644 "A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features." "UMLS:CN205308 Orphanet:567 OMIM:192430 MESH:D004062 ICD9:758.32 DOID:12583" MONDO:0056802 "A disease or disorder that involves the synovial bursa." "UMLS:C0263946 SCTID:10597006" ENVO:01000800 "A planet is an astronomical body orbiting a star or stellar remnant that is massive enough to be rounded by its own gravity, is not massive enough to cause thermonuclear fusion, and has cleared its neighbouring region of planetesimals." http://identifiers.org/hgnc/13993 ECTO:7000069 "A exposure event involving the interaction of an exposure receptor to organic material." http://identifiers.org/hgnc/11596 -MONDO:0005376 "A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome." "SCTID:77182004 NCIT:C34645 ICD9:582.1 DOID:10976 EFO:0004254 UMLS:C0017665 MESH:D015433 ICD9:583.1 ICD10:N03.2" -MONDO:0017795 "The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize." "UMLS:C0563212 MedDRA:10066796 NCIT:C4313 SCTID:285311001 UMLS:C0002448 ICD10:C41.1 DOID:0050894 MESH:D000564 GARD:0005747 ICDO:9310/0 Orphanet:314419" +MONDO:0005376 "A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome." "SCTID:77182004 NCIT:C34645 ICD9:582.1 DOID:10976 EFO:0004254 UMLS:C0017665 MESH:D015433 ICD9:583.1" +MONDO:0017795 "The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize." "UMLS:C0563212 MedDRA:10066796 NCIT:C4313 SCTID:285311001 UMLS:C0002448 DOID:0050894 MESH:D000564 ICD10CM:C41.1 GARD:0005747 ICDO:9310/0 Orphanet:314419" MONDO:0044660 "UMLS:C3553418 OMIM:614674 Orphanet:498251" GO:0042558 "The chemical reactions and pathways involving any compound containing pteridine (pyrazino(2,3-dipyrimidine)), e.g. pteroic acid, xanthopterin and folic acid." -MONDO:0016490 "Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia." "Orphanet:231242 UMLS:CN201488 ICD10:D58.2" +MONDO:0016490 "Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia." "ICD10CM:D58.2 Orphanet:231242 UMLS:CN201488" MONDO:0000111 MONDO:0002774 -MONDO:0012351 "MESH:C565223 Orphanet:295187 ICD10:Q70.3 UMLS:C1853294 Orphanet:93402 OMIM:609815" -MONDO:0019484 "A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty." "Orphanet:86906 ICD10:G40.5" +MONDO:0012351 "MESH:C565223 Orphanet:295187 UMLS:C1853294 Orphanet:93402 ICD10CM:Q70.3 OMIM:609815" +MONDO:0019484 "A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty." "ICD10CM:G40.5 Orphanet:86906" IAO:0000033 "An information content entity whose concretizations indicate to their bearer how to realize them in a process."@en -MONDO:0015040 "A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)" "ICD10:D46.2 UMLS:C1318550 Orphanet:100019 NCIT:C7167" +MONDO:0015040 "A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)" "ICD10CM:D46.2 UMLS:C1318550 Orphanet:100019 NCIT:C7167" CL:0000293 "A cell whose primary function is to provide structural support, to provide strength and physical integrity to the organism." -MONDO:0019550 "Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999." "Orphanet:90119 ICD10:G60.0 UMLS:CN206379" +MONDO:0019550 "Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999." "Orphanet:90119 UMLS:CN206379 ICD10CM:G60.0" MONDO:0012146 "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene." "MESH:C537251 DOID:0110923 OMIM:608898 GARD:0009928 Orphanet:540" CHR:9606-chr15q2 MONDO:0012971 "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene." "OMIM:612635" @@ -24446,16 +24429,16 @@ MONDO:0013678 "EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract- MONDO:0020690 "NCIT:C9094" http://identifiers.org/hgnc/11595 MONDO:0011155 "MESH:C566617 UMLS:C1866139 OMIM:601846" -MONDO:0015574 "Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis." "MedDRA:10057929 Orphanet:163531 ICD10:L93.2 ICD10:L93.0 UMLS:CN226705" -MONDO:0016857 "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." "ICD10:Q10.3 OMIM:110100 Orphanet:261559 UMLS:CN202200" +MONDO:0015574 "Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis." "MedDRA:10057929 Orphanet:163531 ICD10CM:L93.2 ICD10CM:L93.0 UMLS:CN226705" +MONDO:0016857 "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay." "ICD10CM:Q10.3 OMIM:110100 Orphanet:261559 UMLS:CN202200" MONDO:0012352 "MESH:C565222 OMIM:609817 UMLS:C1853293" MONDO:0015936 "OBSOLETE. A rare tumor that involves the endocrine gland." "Orphanet:182130" MONDO:0020635 "A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." "ICDO:9530/3 ONCOTREE:ANM NCIT:C4051" MONDO:0003478 "An ependymoma that arises from the central nervous system and occurs during childhood." "NCIT:C8578 DOID:5509 MESH:C531673" -MONDO:0011364 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene." "OMIM:603720 UMLS:C1863561 ICD10:H90.3 DOID:0110471 MESH:C566339" +MONDO:0011364 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene." "OMIM:603720 UMLS:C1863561 DOID:0110471 MESH:C566339" MONDO:0025370 "Tumors or cancer of the urogenital system in either the male or the female." "MESH:D014565 EFO:0003863" -MONDO:0018464 "Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies." "Orphanet:411543 ICD10:E79.8 UMLS:CN237444 OMIM:300661" -MONDO:0009965 "Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism." "NCIT:C103144 MESH:C536399 Orphanet:2849 SCTID:722231005 UMLS:C0796113 OMIM:267000 ICD10:Q87.3 DOID:0060476 GARD:0003936" +MONDO:0018464 "Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies." "ICD10CM:E79.8 Orphanet:411543 UMLS:CN237444 OMIM:300661" +MONDO:0009965 "Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism." "NCIT:C103144 MESH:C536399 Orphanet:2849 SCTID:722231005 UMLS:C0796113 OMIM:267000 DOID:0060476 ICD10CM:Q87.3 GARD:0003936" http://identifiers.org/hgnc/10397 MONDO:0010508 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene." "OMIM:300982 UMLS:C4310818" MONDO:0025062 "A picornavirus infection producing symptoms similar to poliomyelitis in pigs." "MESH:D004682" @@ -24464,11 +24447,11 @@ GO:0110110 "Any process that activates or increases the frequency, rate or exten http://identifiers.org/hgnc/11594 CHEBI:33558 "An amino-acid anion obtained by deprotonation of any alpha-amino acid." GO:1903046 "A process that is part of the meiotic cell cycle." -MONDO:0009843 "Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene." "ICD10:E75.2 Orphanet:280270 OMIM:260600 MESH:C536319 Orphanet:280293 UMLS:C1850053 DOID:0060790 GARD:0004266" +MONDO:0009843 "Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene." "Orphanet:280270 OMIM:260600 MESH:C536319 Orphanet:280293 UMLS:C1850053 ICD10CM:E75.2 DOID:0060790 GARD:0004266" MONDO:0020691 MONDO:0004070 GO:0055025 "Any process that activates, maintains or increases the frequency, rate or extent of cardiac muscle tissue development." -MONDO:0011925 "Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting." "NCIT:C118783 ICD10:G71.2 SCTID:111503008 Orphanet:258 EFO:0009138 DOID:0110636 OMIM:607855 GARD:0003843 UMLS:C1263858" +MONDO:0011925 "Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting." "NCIT:C118783 SCTID:111503008 Orphanet:258 EFO:0009138 DOID:0110636 OMIM:607855 ICD10CM:G71.2 GARD:0003843 UMLS:C1263858" MONDO:0001573 GO:0044877 "Binding to a macromolecular complex." GO:0019209 "Binds to and increases the activity of a kinase, an enzyme which catalyzes of the transfer of a phosphate group, usually from ATP, to a substrate molecule." @@ -24477,55 +24460,55 @@ MONDO:0026730 "OMIM:301032" CHR:9606-chr20q13.3 CL:0002312 "An acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin." "FMA:83095" MONDO:0007468 "OMIM:126410" -MONDO:0010999 "Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." "GARD:0000893 OMIM:601127 SCTID:723336008 UMLS:C1832735 ICD10:Q87.8 Orphanet:3304 MESH:C536608" +MONDO:0010999 "Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." "GARD:0000893 OMIM:601127 ICD10CM:Q87.8 SCTID:723336008 UMLS:C1832735 Orphanet:3304 MESH:C536608" UBERON:0005234 UBERON:0013761 MONDO:0000372 "Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions." "UMLS:C0347098 SCTID:92681005 NCIT:C4942 DOID:0050611" MONDO:0024335 "SCTID:230507009" -MONDO:0009838 "A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death." "NCIT:C126559 Orphanet:2812 GARD:0002598 MESH:C564905 OMIM:260530 UMLS:C1850079 ICD10:L91.8" +MONDO:0009838 "A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death." "ICD10CM:L91.8 NCIT:C126559 Orphanet:2812 GARD:0002598 MESH:C564905 OMIM:260530 UMLS:C1850079" CHEBI:8058 "A member of the class of piperidines that is piperidine in which the nitrogen is substituted with a 1-phenylcyclohexyl group. Formerly used as an anaesthetic agent, it exhibits both hallucinogenic and neurotoxic effects." MONDO:0032886 "OMIM:618729" MONDO:0100028 "Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy." -MONDO:0006966 "A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication." "MESH:D010302 UMLS:C0030569 NCIT:C34899 ICD9:332.1 ICD10:G21.9 EFO:1001175 ICD10:G21 SCTID:265377002 DOID:13548" +MONDO:0006966 "A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication." "MESH:D010302 UMLS:C0030569 NCIT:C34899 ICD9:332.1 EFO:1001175 SCTID:265377002 DOID:13548" MONDO:0032620 "OMIM:618237" http://identifiers.org/hgnc/3583 -MONDO:0011731 "Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period." "ICD10:E74.3 MESH:C562602 Orphanet:35710 MedDRA:10066388 GARD:0006521 OMIM:606824 ICD9:271.3 SCTID:190749000" +MONDO:0011731 "Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period." "MESH:C562602 ICD10CM:E74.3 Orphanet:35710 MedDRA:10066388 GARD:0006521 OMIM:606824 ICD9:271.3 SCTID:190749000" CHEBI:22501 "An amino alcohol having two hydroxy functional groups." UBERON:0009191 MONDO:0023137 "GARD:0002280" CL:0002035 "A hematopoietic progenitor that has restricted self-renewal capability. Cell is Kit-positive, Ly6-positive, CD150-negative and Flt3-negative." MONDO:0007469 "OMIM:126500 MESH:C565090 GARD:0009672" -MONDO:0015348 "Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested." "Orphanet:139444 ICD10:E75.2" +MONDO:0015348 "Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested." "ICD10CM:E75.2 Orphanet:139444" CHR:9606-chr10p11.21-p12.31 UBERON:0013760 -MONDO:0006637 "Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics." "NCIT:C34749 HP:0008682 MESH:D007683 DOID:12556 UMLS:C0022672 SCTID:35455006 MedDRA:10023441 ICD10:N17.0 EFO:1000794 ICD9:584.5" +MONDO:0006637 "Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics." "NCIT:C34749 HP:0008682 MESH:D007683 DOID:12556 UMLS:C0022672 SCTID:35455006 MedDRA:10023441 EFO:1000794 ICD9:584.5" MONDO:0004339 "A meningioma that affects the tuberculum sellae." "UMLS:C1336829 DOID:7713 NCIT:C5284" http://identifiers.org/hgnc/14025 -MONDO:0008715 "A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." "OMIM:201180 DOID:0060226 SCTID:720408003 OMIM:239710 GARD:0000484 Orphanet:1784 MESH:C538186 ICD10:Q75.1 UMLS:C1860118" -MONDO:0001128 "A malignant neoplasm involving the nasal cavity" "UMLS:C0728864 SCTID:363422006 ICD10:C30.0 DOID:10811 NCIT:C4918 ICD9:160.0" +MONDO:0008715 "A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." "OMIM:201180 DOID:0060226 SCTID:720408003 OMIM:239710 ICD10CM:Q75.1 GARD:0000484 Orphanet:1784 MESH:C538186 UMLS:C1860118" +MONDO:0001128 "A malignant neoplasm involving the nasal cavity" "UMLS:C0728864 SCTID:363422006 DOID:10811 NCIT:C4918 ICD9:160.0" MONDO:0008664 MONDO:0032885 "OMIM:618728" MONDO:0023138 "MESH:C536179 GARD:0002282 UMLS:C2931126" -MONDO:0006234 "High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." "SCTID:92691004 ICD10:D07.5 EFO:1000283 ICD9:233.4 NCIT:C3642 UMLS:C0154088 DOID:8634" +MONDO:0006234 "High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities." "ICD10CM:D07.5 SCTID:92691004 EFO:1000283 ICD9:233.4 NCIT:C3642 UMLS:C0154088 DOID:8634" http://identifiers.org/hgnc/3584 -MONDO:0017184 "Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism)." "Orphanet:276575 OMIM:256450 UMLS:C4274080 UMLS:CN202625 ICD10:E16.1 SCTID:717046003" -MONDO:0015557 "Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions." "Orphanet:158775 ICD10:C96.2" +MONDO:0017184 "Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism)." "Orphanet:276575 OMIM:256450 UMLS:C4274080 UMLS:CN202625 ICD10CM:E16.1 SCTID:717046003" +MONDO:0015557 "Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions." "ICD10CM:C96.2 Orphanet:158775" MONDO:0031421 "OMIMPS:614594" -MONDO:0008757 "The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." "UMLS:C0263505 OMIM:610753 OMIM:203655 ICD10:L63.1 OMIM:104000 DOID:0050634 SCTID:86166000 MedDRA:10001767 GARD:0000614 Orphanet:701 ICD9:704.09 MESH:C537055" +MONDO:0008757 "The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." "UMLS:C0263505 OMIM:610753 OMIM:203655 OMIM:104000 DOID:0050634 SCTID:86166000 MedDRA:10001767 GARD:0000614 Orphanet:701 ICD9:704.09 MESH:C537055" http://identifiers.org/hgnc/2388 UBERON:0005236 HP:0000491 "Inflammation of the cornea." "UMLS:C0022568 SNOMEDCT_US:5888003 MSH:D007634" MONDO:0032889 "OMIM:618732" MONDO:0026732 "OMIM:301035" -MONDO:0018800 "Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." "OMIM:308700 SCTID:33927004 OMIM:614838 MESH:D017436 OMIM:610628 OMIM:615270 OMIM:616030 OMIM:614858 Orphanet:478 OMIM:614897 OMIM:612702 OMIM:615267 GARD:0010771 OMIM:614837 DOID:3614 MedDRA:10053142 UMLS:C0162809 OMIM:147950 OMIM:612370 SCTID:93559003 OMIM:615271 ICD9:253.4 OMIM:614840 NCIT:C75479 OMIM:615266 ICD10:E23.0 OMIM:615269 OMIM:614880 OMIM:244200" -MONDO:0008718 "Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases." "SCTID:763803004 GARD:0009766 EFO:1001897 Orphanet:83467 UMLS:C0751540 ICD10:G60.8" +MONDO:0018800 "Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." "OMIM:308700 SCTID:33927004 OMIM:614838 MESH:D017436 OMIM:610628 OMIM:615270 OMIM:616030 OMIM:614858 Orphanet:478 OMIM:614897 OMIM:612702 OMIM:615267 GARD:0010771 OMIM:614837 DOID:3614 MedDRA:10053142 UMLS:C0162809 OMIM:147950 OMIM:612370 SCTID:93559003 OMIM:615271 ICD9:253.4 OMIM:614840 ICD10CM:E23.0 NCIT:C75479 OMIM:615266 OMIM:615269 OMIM:614880 OMIM:244200" +MONDO:0008718 "Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases." "SCTID:763803004 GARD:0009766 EFO:1001897 Orphanet:83467 UMLS:C0751540 ICD10CM:G60.8" MONDO:0044873 "An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults." "NCIT:C68744" MONDO:0032622 "OMIM:618239" http://identifiers.org/hgnc/3585 MONDO:0030489 "OMIM:619555" -MONDO:0014441 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene." "UMLS:C2673873 Orphanet:110 ICD10:Q87.89 OMIM:615990 DOID:0110135 MESH:C567140" +MONDO:0014441 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene." "UMLS:C2673873 Orphanet:110 OMIM:615990 DOID:0110135 MESH:C567140" http://identifiers.org/hgnc/26291 -MONDO:0010850 "UMLS:C1838348 Orphanet:141258 OMIM:600251 ICD10:Q18.8" +MONDO:0010850 "UMLS:C1838348 Orphanet:141258 OMIM:600251 ICD10CM:Q18.8" MONDO:0003791 "A male urethral cancer that involves the prostatic urethra." "DOID:6167 UMLS:C1514523 NCIT:C39870" GO:2000843 "Any process that modulates the frequency, rate or extent of testosterone secretion." GO:0023051 "Any process that modulates the frequency, rate or extent of a signaling process." @@ -24541,7 +24524,7 @@ MONDO:0024334 MONDO:0002675 "A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)" "DOID:3512 MESH:D018319 GARD:0008211" MONDO:0004928 "Any disorder of the lymph nodes." "SCTID:76616003 DOID:9942 UMLS:C0272394 NCIT:C35346" MONDO:0026731 "OMIM:301033" -MONDO:0017076 "Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region." "ICD10:Q05.9 ICD10:Q05.7 ICD10:Q05.1 Orphanet:268810 ICD10:Q05.4 ICD10:Q05.2 UMLS:CN202439 ICD10:Q05.3 ICD10:Q05.8 ICD10:Q05.6" +MONDO:0017076 "Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region." "ICD10CM:Q05.6 ICD10CM:Q05.9 ICD10CM:Q05.4 Orphanet:268810 ICD10CM:Q05.3 ICD10CM:Q05.8 UMLS:CN202439 ICD10CM:Q05.7 ICD10CM:Q05.2 ICD10CM:Q05.1" MONDO:0000624 "A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor." "UMLS:C0744514 DOID:0060086 NCIT:C4934" MONDO:0032887 "OMIM:618730" MONDO:0032621 "OMIM:618238" @@ -24549,9 +24532,9 @@ http://identifiers.org/hgnc/3586 UBERON:0006694 CL:0002292 "A round or oval neuroepithelial cell that contacts other type I cells or capillaries. They occur in clusters that are surrounded by sheath cells (type-II cells) in the carotid body. This cell type is capable of secreting a number of neurotransmitters." "FMA:84186" http://identifiers.org/hgnc/8487 -MONDO:0006507 "An inherited metabolic disorder characterized by iron accumulation in the tissues." "ICD10:E83.119 DOID:2352 ICD10:E83.110 OMIM:231100 NCIT:C84481 OMIMPS:235200 EFO:1000642 MESH:D006432 ICD10:E83.11 GARD:0010746 SCTID:35400008" +MONDO:0006507 "An inherited metabolic disorder characterized by iron accumulation in the tissues." "DOID:2352 OMIM:231100 NCIT:C84481 OMIMPS:235200 ICD10CM:E83.110 EFO:1000642 MESH:D006432 GARD:0010746 SCTID:35400008" MONDO:0008617 "An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22." "DOID:0110894 OMIM:191390 UMLS:C2674051 MESH:C567154" -MONDO:0019177 "Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive." "SCTID:722064003 Orphanet:77295 ICD10:E75.2 OMIM:607694 GARD:0009632" +MONDO:0019177 "Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive." "SCTID:722064003 Orphanet:77295 OMIM:607694 GARD:0009632 ICD10CM:E75.2" CHEBI:35942 "A substance used for its pharmacological action on any aspect of neurotransmitter systems. Neurotransmitter agents include agonists, antagonists, degradation inhibitors, uptake inhibitors, depleters, precursors, and modulators of receptor function." MONDO:0009601 "UMLS:C1834821 OMIM:250460 MESH:C563574 GARD:0010622 Orphanet:1838" HP:0005120 "Any structural abnormality of a cardiac atrium." "UMLS:C4025246" @@ -24567,7 +24550,7 @@ MONDO:0032882 "OMIM:618724" MONDO:0014844 "Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene." "UMLS:C4310782 OMIM:616947" MONDO:0004704 http://identifiers.org/hgnc/3587 -MONDO:0019865 "Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated." "Orphanet:96059 ICD10:Q92.1 SCTID:764628000" +MONDO:0019865 "Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated." "ICD10CM:Q92.1 Orphanet:96059 SCTID:764628000" MONDO:0030487 "OMIM:619638" UBERON:0006435 UBERON:0003933 @@ -24589,13 +24572,13 @@ MONDO:0026733 "OMIM:301039" CL:0012000 "An astrocyte of the forebrain." MONDO:0032881 "OMIM:618723" http://identifiers.org/hgnc/3588 -MONDO:0015539 "Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease." "Orphanet:158022 ICD10:D76.3 SCTID:765141005" +MONDO:0015539 "Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease." "Orphanet:158022 SCTID:765141005 ICD10CM:D76.3" UBERON:0009196 ENVO:01001687 "An object which is composed primarily of a solid environmental material"@en MONDO:0009172 "An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use." "HP:0004387 MESH:D004760 EFO:1001481 UMLS:C0014356 ICD9:558.9 NCIT:C79573 SCTID:43752006 OMIM:226150" MONDO:0007466 "OMIM:126370" GO:0051352 "Any process that stops or reduces the rate of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate." -MONDO:0006545 "Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN)." "UMLS:C0014742 NCIT:C3024 SCTID:36715001 ICD10:L51 GARD:0006372 ICD9:695.1 ICD9:695.10 DOID:0050185 MESH:D004892 EFO:1000694" +MONDO:0006545 "Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN)." "NCIT:C3024 UMLS:C0014742 SCTID:36715001 GARD:0006372 ICD10CM:L51 ICD9:695.1 ICD10CM:L49-L54 ICD9:695.10 DOID:0050185 MESH:D004892 EFO:1000694" MONDO:0020582 "A non-metastasizing neoplasm that arises from the uterine ligament." "UMLS:C0865093 NCIT:C126493" UBERON:0005498 GO:0002920 "Any process that modulates the frequency, rate, or extent of a humoral immune response." @@ -24613,37 +24596,37 @@ MONDO:0009864 "MESH:C564890 GARD:0004279 Orphanet:2880 Orphanet:79317 UMLS:C184 UBERON:0003937 FOODON:03411347 UBERON:0005499 -MONDO:0009525 "The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." "Orphanet:2440 DOID:0090025 UMLS:C0265554 Orphanet:1307 ICD10:Q92.3 ICD10:Q71.6 NCIT:C75121 SCTID:722429003 OMIM:246560 MESH:C565437 GARD:0003252" +MONDO:0009525 "The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." "Orphanet:2440 DOID:0090025 UMLS:C0265554 Orphanet:1307 NCIT:C75121 SCTID:722429003 OMIM:246560 MESH:C565437 GARD:0003252" http://identifiers.org/hgnc/6086 MONDO:0024338 "NCIT:C7070 UMLS:C1334811" -MONDO:0014291 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31." "ICD10:H90.3 DOID:0110580 OMIM:615649" +MONDO:0014291 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31." "DOID:0110580 OMIM:615649" UBERON:0005233 -MONDO:0005077 "A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough." "SCTID:26484003 MESH:D014917 GARD:0008692 ICD9:033.0 ICD10:A37.0 EFO:0000650 ICD9:033.9 ICD10:A37.9 Orphanet:1489 ICD9:033 NCIT:C85231 MedDRA:10034738 ICD10:A37.8 MedDRA:10047974 DOID:1116 SCTID:27836007 KEGG:05133 ICD10:A37.1 UMLS:C0043167" +MONDO:0005077 "A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough." "SCTID:26484003 ICD10CM:A37.1 MESH:D014917 GARD:0008692 ICD9:033.0 ICD10CM:A37.0 EFO:0000650 ICD9:033.9 Orphanet:1489 ICD9:033 NCIT:C85231 MedDRA:10034738 ICD10CM:A37.8 MedDRA:10047974 DOID:1116 SCTID:27836007 KEGG:05133 ICD10CM:A37.9 UMLS:C0043167" CL:0000049 "A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages." "BTO:0004730" -MONDO:0004706 "DOID:9076 UMLS:C0155180 ICD10:H01.12 SCTID:79291003 ICD9:373.34" +MONDO:0004706 "DOID:9076 UMLS:C0155180 SCTID:79291003 ICD9:373.34" MONDO:0004006 "An exceptionally rare cystadenofibroma that arises from the rete ovarii." "NCIT:C40020 DOID:6838 UMLS:C1514906" MONDO:0054695 "UMLS:C4540345 OMIM:617760 DOID:0111221" MONDO:0032883 "OMIM:618725" MONDO:0012151 "OMIM:608905" MONDO:0030486 "OMIM:619637" MONDO:0006269 -MONDO:0016786 "Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage." "ONCOTREE:PHM SCTID:237250000 ICDO:9103/0 ICD10:O01.1 Orphanet:254693 NCIT:C4293 UMLS:C0334529" +MONDO:0016786 "Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage." "ONCOTREE:PHM SCTID:237250000 ICDO:9103/0 Orphanet:254693 NCIT:C4293 UMLS:C0334529" UBERON:0004035 -MONDO:0009706 "Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase." "SCTID:699268002 ICD10:G71.3 ICD9:259.8 MESH:C564972 Orphanet:43115 UMLS:C1850718 OMIM:255125" +MONDO:0009706 "Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase." "SCTID:699268002 ICD9:259.8 MESH:C564972 Orphanet:43115 UMLS:C1850718 OMIM:255125 ICD10CM:G71.3" HP:0000219 "Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective)." "UMLS:C1865017" MONDO:0010853 "UMLS:C1838332 OMIM:600263" MONDO:0100361 "Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis)." MONDO:0100269 "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene." MONDO:0002323 "A capillary hemangioma of the skin, presenting as a red papular lesion." "UMLS:C0343082 DOID:2495 SCTID:5050001 NCIT:C4390" HP:0001927 "Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars." "SNOMEDCT_US:250249008 UMLS:C0687751" -MONDO:0009885 "Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." "Orphanet:806 DOID:0111052 UMLS:C0796149 SCTID:128098009 MESH:C563120 GARD:0004777 ICD10:D69.8 OMIM:262890" -MONDO:0013372 "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene." "DOID:0110647 OMIM:613695 Orphanet:768 ICD10:I45.8 Orphanet:101016 MESH:C566766 GARD:0010433 UMLS:C1867904 HGNC:6240" -MONDO:0009499 "A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." "ICD10:E75.2 OMIM:611722 ICD10:E75.23 MESH:D007965 NCIT:C61254 SCTID:189979005 UMLS:C0023521 MedDRA:10023492 OMIM:245200 GARD:0006844 DOID:10587 Orphanet:487" +MONDO:0009885 "Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." "Orphanet:806 DOID:0111052 UMLS:C0796149 SCTID:128098009 MESH:C563120 ICD10CM:D69.8 GARD:0004777 OMIM:262890" +MONDO:0013372 "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene." "DOID:0110647 OMIM:613695 Orphanet:768 Orphanet:101016 MESH:C566766 GARD:0010433 UMLS:C1867904 HGNC:6240" +MONDO:0009499 "A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." "OMIM:611722 MESH:D007965 ICD10CM:E75.23 NCIT:C61254 SCTID:189979005 UMLS:C0023521 ICD10CM:E75.2 MedDRA:10023492 OMIM:245200 GARD:0006844 DOID:10587 Orphanet:487" MONDO:0054698 "OMIM:256040" CHEBI:32876 "A compound formally derived from ammonia by replacing three hydrogen atoms by hydrocarbyl groups." UBERON:0005492 MONDO:0016054 "Orphanet:199633" -MONDO:0017251 "Orphanet:280847 ICD10:Q33.0" +MONDO:0017251 "Orphanet:280847 ICD10CM:Q33.0" PATO:0002078 "A quality inhering in a bearer by virtue of the bearer's having an empty space or cavity within." MONDO:0030483 "OMIM:619630" MONDO:0006808 "Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." "EFO:1000990 DOID:13089 UMLS:C0752138 MESH:D020765" @@ -24653,15 +24636,15 @@ UBERON:0010160 http://identifiers.org/hgnc/23791 UBERON:0001534 MONDO:0000172 "UMLS:CN228400 OMIMPS:613155" -MONDO:0019945 "Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation." "MedDRA:10041307 Orphanet:97230 ICD10:L56.3 ICD9:708.8 SCTID:10347006 UMLS:C0263610" -MONDO:0008407 "OMIM:181400 DOID:0111551 GARD:0010312 UMLS:C1867005 Orphanet:85146 MESH:C566695 ICD10:G12.1" +MONDO:0019945 "Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation." "MedDRA:10041307 ICD10CM:L56.3 Orphanet:97230 ICD9:708.8 SCTID:10347006 UMLS:C0263610" +MONDO:0008407 "OMIM:181400 DOID:0111551 GARD:0010312 UMLS:C1867005 Orphanet:85146 MESH:C566695 ICD10CM:G12.1" MONDO:0012991 "An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene." "OMIM:612713 MESH:C567196 DOID:0050807 Orphanet:168972 UMLS:CN200191 UMLS:C2675185" UBERON:0004294 http://identifiers.org/hgnc/21396 MONDO:0020637 http://identifiers.org/hgnc/417 MONDO:0100172 "OMIM:614254 OMIM:612580 OMIM:616579 OMIM:156200 OMIM:612621 OMIMPS:156200 OMIM:614563 OMIM:615828 OMIM:614113 OMIM:616393 OMIM:614256 OMIM:612581 OMIM:613970 OMIM:616521 OMIM:614257 OMIM:614255" -MONDO:0001985 "A partial occlusion of the retinal artery." "SCTID:776009 ICD10:H34.21 UMLS:C0154839 ICD9:362.33 DOID:14522 ICD10:H34.219 NCIT:C35192" +MONDO:0001985 "A partial occlusion of the retinal artery." "SCTID:776009 UMLS:C0154839 ICD9:362.33 DOID:14522 NCIT:C35192" MONDO:0004161 "A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives." "UMLS:C1519852 DOID:7241 NCIT:C40165" MONDO:0004296 "A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate." "NCIT:C40193 UMLS:C1516418 DOID:7598" MONDO:0054697 "UMLS:C4539957 OMIM:617638" @@ -24670,18 +24653,18 @@ UBERON:0002731 GO:0016595 "Binding to glutamate, the anion of 2-aminopentanedioic acid." MONDO:0002570 "A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium." "DOID:3230 MESH:D006610 UMLS:C0019537" MONDO:0009604 "OMIM:250700 MESH:C563171 Orphanet:621 UMLS:C0472786 SCTID:234397008" -MONDO:0017252 "Orphanet:280854 ICD10:Q33.0" +MONDO:0017252 "Orphanet:280854 ICD10CM:Q33.0" MONDO:0030484 "OMIM:619632" http://identifiers.org/hgnc/12723 MONDO:0015954 "UMLS:CN226801 Orphanet:183509" -MONDO:0016483 "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm." "SCTID:703226008 OMIM:610213 HP:0007029 OMIM:612161 ICD10:I60.7 OMIM:609122 OMIM:612586 OMIM:105800 OMIM:614252 ICD10:I67.1 OMIM:612587 OMIMPS:105800 DOID:0060228 OMIM:608542 Orphanet:231160 OMIM:300870 OMIM:611892 UMLS:CN230268 OMIM:612162" +MONDO:0016483 "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm." "ICD10CM:I67.1 SCTID:703226008 OMIM:610213 HP:0007029 OMIM:612161 OMIM:609122 OMIM:612586 OMIM:105800 OMIM:614252 OMIM:612587 OMIMPS:105800 DOID:0060228 OMIM:608542 Orphanet:231160 OMIM:300870 OMIM:611892 UMLS:CN230268 OMIM:612162" UBERON:0010161 GO:0046877 "Any process that modulates the frequency, rate or extent of the regulated release of saliva from a cell or a tissue." -MONDO:0014389 "A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported." "OMIM:615895 Orphanet:397937 Orphanet:329173 UMLS:C4014605 ICD10:E74.0" +MONDO:0014389 "A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported." "OMIM:615895 Orphanet:397937 ICD10CM:E74.0 Orphanet:329173 UMLS:C4014605" UBERON:0001533 -MONDO:0019011 "Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity." "ICD10:G60.0 SCTID:398040009 DOID:0050538 GARD:0012433 Orphanet:65753" +MONDO:0019011 "Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity." "SCTID:398040009 DOID:0050538 GARD:0012433 Orphanet:65753 ICD10CM:G60.0" UBERON:0036553 -MONDO:0000171 "UMLS:CN239483 ICD10:Q04.3 OMIM:615249 OMIM:253800 OMIM:613153 GARD:0002599 OMIM:236670 OMIM:615041 OMIM:616538 MESH:D058494 OMIMPS:236670 OMIM:613150 NCIT:C99109 OMIM:615287 OMIM:253280 SCTID:111504002 Orphanet:899 OMIM:615181 OMIM:613154 OMIM:614830 OMIM:614643 DOID:0050560" +MONDO:0000171 "UMLS:CN239483 OMIM:615249 OMIM:253800 OMIM:613153 GARD:0002599 OMIM:236670 OMIM:615041 OMIM:616538 MESH:D058494 OMIMPS:236670 OMIM:613150 NCIT:C99109 OMIM:615287 OMIM:253280 SCTID:111504002 Orphanet:899 OMIM:615181 OMIM:613154 OMIM:614830 ICD10CM:Q04.3 OMIM:614643 DOID:0050560" UBERON:0001799 GO:0010566 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of a ketone, carried out by individual cells." CHEBI:42485 @@ -24695,23 +24678,23 @@ PATO:0000136 "A morphological quality pertaining to the degree to which an objec MONDO:0032880 "OMIM:618721" MONDO:0015953 "UMLS:CN200550 Orphanet:183503" MONDO:0005082 "A carcinoma that arises from glandular epithelial cells of the prostate gland" "UMLS:C0007112 EFO:0000673 ONCOTREE:PRAD SCTID:399490008 NCIT:C2919 DOID:2526" -MONDO:0005062 "A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas." "GARD:0011955 NCIT:C3208 MedDRA:10025310 DOID:0060058 OMIM:605027 ICD10:C85.9 SCTID:188498009 ICD9:202.80 NCIT:C7065 ICD9:200.0 MESH:D008223 UMLS:C0024299 SCTID:118600007 ICD9:200.1 UMLS:C0598798 ICDO:9590/3 Orphanet:223735 EFO:0000574 ONCOTREE:MLYM" +MONDO:0005062 "A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas." "GARD:0011955 NCIT:C3208 MedDRA:10025310 DOID:0060058 OMIM:605027 SCTID:188498009 ICD9:202.80 NCIT:C7065 ICD9:200.0 MESH:D008223 UMLS:C0024299 SCTID:118600007 ICD9:200.1 UMLS:C0598798 ICDO:9590/3 Orphanet:223735 EFO:0000574 ONCOTREE:MLYM" MONDO:0010474 "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene." "Orphanet:2556 UMLS:C3550921 OMIM:300887" UBERON:0010162 UBERON:0004296 UBERON:0003931 GO:0043400 "The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland." MONDO:0008405 "OMIM:181300" -MONDO:0017802 "A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad)." "SCTID:765190005 ICD10:D27 UMLS:CN203762 Orphanet:314478" +MONDO:0017802 "A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad)." "SCTID:765190005 ICD10CM:D27 UMLS:CN203762 Orphanet:314478" MONDO:0009602 "GARD:0000217 OMIM:250500 MESH:C535875 UMLS:C1855164" MONDO:0011371 "An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome." "GARD:0010079 MESH:C536077 OMIM:603794 UMLS:C1863533" -MONDO:0010026 "SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease." "UMLS:C0878684 DOID:0111454 MESH:C537327 GARD:0007633 ICD10:Q87.1 Orphanet:3163 OMIM:269880" +MONDO:0010026 "SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease." "UMLS:C0878684 ICD10CM:Q87.1 DOID:0111454 MESH:C537327 GARD:0007633 Orphanet:3163 OMIM:269880" UBERON:0001536 GO:0055103 "Binds to and modulates the activity of a ligase." -MONDO:0007769 "Over-production of pigment in the eyelid." "UMLS:C0155211 MESH:C562400 OMIM:145100 ICD9:374.52 EFO:1000711 ICD10:H02.71 SCTID:41115008 DOID:10122" +MONDO:0007769 "Over-production of pigment in the eyelid." "UMLS:C0155211 MESH:C562400 OMIM:145100 ICD9:374.52 EFO:1000711 SCTID:41115008 DOID:10122" MONDO:0054699 "OMIM:617591" CHR:9606-chr8q21 -MONDO:0017250 "ICD10:Q33.0 Orphanet:280840" +MONDO:0017250 "ICD10CM:Q33.0 Orphanet:280840" UBERON:0003098 MONDO:0020295 "Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium." "SCTID:111322000 Orphanet:98729 NCIT:C110942" MONDO:0030482 "OMIM:619621" @@ -24724,7 +24707,7 @@ UBERON:0001535 CHEBI:35143 http://identifiers.org/hgnc/414 MONDO:0024623 "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases." "NCIT:C118420 ICD9:478.19 SCTID:232208008 UMLS:C0395797 MESH:D010038 UMLS:C0029896" -MONDO:0003001 "A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes." "DOID:4440 SCTID:443675005 ICD9:186.9 ICDO:9061/3 MESH:D018239 NCIT:C9309 ONCOTREE:SEM NCIT:C7328 OMIM:273300 SCTID:255107005" +MONDO:0003001 "A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes." "DOID:4440 SCTID:443675005 ICD9:186.9 ICDO:9061/3 MESH:D018239 NCIT:C9309 ONCOTREE:SEM NCIT:C7328 SCTID:255107005" NCBITaxon:7524 "PMID:7666451 GC_ID:1" http://identifiers.org/hgnc/7029 UBERON:0004290 @@ -24742,7 +24725,7 @@ GO:0044145 "Any process that modulates the frequency, rate or extent of the prog CHR:9606-chr8q24 http://identifiers.org/hgnc/12726 MONDO:0016050 -MONDO:0008018 "Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." "NCIT:C84905 OMIM:158320 DOID:0050465 UMLS:C1321489 MESH:D055653 GARD:0006821 MedDRA:10063042 SCTID:403824007 Orphanet:587 ICD10:L72.8" +MONDO:0008018 "Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma." "NCIT:C84905 OMIM:158320 DOID:0050465 UMLS:C1321489 MESH:D055653 GARD:0006821 MedDRA:10063042 SCTID:403824007 ICD10CM:L72.8 Orphanet:587" MONDO:0023133 "MESH:C537076 UMLS:C2931417" CL:1000437 "An epithelial cell that is part of the nasolacrimal duct." "FMA:70561" MONDO:0027091 "GARD:0009739" @@ -24756,18 +24739,18 @@ MONDO:0012436 "A rare genetic disease characterized by intrauterine growth retar CL:0005020 "Lymphatic progenitor cells." UBERON:0004291 MONDO:0020633 "UMLS:C1332287 NCIT:C36025" -MONDO:0022171 "A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms." "GARD:0010749 SCTID:26147006 ICD9:705.89 ICD10:L75.1" -MONDO:0001879 "A malignant neoplasm involving the anus" "ICD10:C21.1 NCIT:C7379 ICD9:154.2 GARD:0009300 ICD10:C21.0 DOID:14110 ICD9:154.3" +MONDO:0022171 "A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms." "ICD10CM:L75.1 GARD:0010749 SCTID:26147006 ICD9:705.89" +MONDO:0001879 "A malignant neoplasm involving the anus" "NCIT:C7379 ICD9:154.2 GARD:0009300 DOID:14110 ICD9:154.3" UBERON:0011363 ENVO:01000293 "A mass of water ice." MONDO:0009608 "OMIM:250900 MESH:C562682 UMLS:C0268622 SCTID:45812003" CHEBI:15740 "A monocarboxylic acid anion that is the conjugate base of formic acid. Induces severe metabolic acidosis and ocular injury in human subjects." CL:0008017 "A skeletal muscle myoblast that is part of a skeletal mucle. These cells are formed following acivation and division of skeletal muscle satellite cells. They form a transient population that is lost when they fuse to form skeletal muscle fibers." GO:0005730 "A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome." -MONDO:0014305 "An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2." "DOID:0110814 ICD10:G11.4 SCTID:726610000 OMIM:615686 Orphanet:401805 UMLS:C3810295" +MONDO:0014305 "An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2." "ICD10CM:G11.4 DOID:0110814 SCTID:726610000 OMIM:615686 Orphanet:401805 UMLS:C3810295" http://identifiers.org/hgnc/678 -MONDO:0010545 "Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism." "ICD9:759.89 UMLS:C0796085 Orphanet:627 OMIM:302350 SCTID:445257004 ICD10:Q87.0 GARD:0007161 DOID:0060599 MESH:C538336" -MONDO:0018885 "Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported." "Orphanet:52994 SCTID:719045009 UMLS:C4305000 ICD10:D31.6 UMLS:CN205236" +MONDO:0010545 "Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism." "ICD9:759.89 UMLS:C0796085 OMIM:302350 Orphanet:627 SCTID:445257004 GARD:0007161 DOID:0060599 MESH:C538336 ICD10CM:Q87.0" +MONDO:0018885 "Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported." "Orphanet:52994 SCTID:719045009 ICD10CM:D31.6 UMLS:C4305000 UMLS:CN205236" http://identifiers.org/hgnc/14287 MONDO:0002881 "A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component." "NCIT:C40277 UMLS:C1519914 DOID:4117" HP:0005561 "An anomaly of the form or number of cells in the bone marrow." "UMLS:C4021634 UMLS:C0005956 SNOMEDCT_US:127035006 MSH:D001855" @@ -24778,36 +24761,36 @@ MONDO:0030480 "OMIM:619615" MONDO:0015950 "UMLS:CN200547 Orphanet:183487" UBERON:0001795 ENVO:01001478 "A part of an astronomical body which is primarily composed of a continuous volume of gaseous material, shaped by one or more environmental processes." -MONDO:0001999 "Increased blood pressure in the arteries of the lungs; the etiology is unknown." "OMIM:178600 ICD10:I27.0 NCIT:C97119 Orphanet:422 OMIM:615342 DOID:14557 ICD9:416.0 OMIM:615343 OMIM:265400 OMIM:615344" +MONDO:0001999 "Increased blood pressure in the arteries of the lungs; the etiology is unknown." "OMIM:178600 NCIT:C97119 Orphanet:422 OMIM:615342 DOID:14557 ICD9:416.0 ICD10CM:I27.0 OMIM:615343 OMIM:265400 OMIM:615344" GO:0006468 "The process of introducing a phosphate group on to a protein." CL:0000084 "A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex." "CALOHA:TS-1001 VHOG:0001479 BTO:0000782 FMA:62870" http://identifiers.org/hgnc/20193 -MONDO:0007173 "Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." "DOID:0110112 Orphanet:1479 ICD10:Q21.1 UMLS:C3502353 OMIM:108900" +MONDO:0007173 "Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." "DOID:0110112 Orphanet:1479 UMLS:C3502353 OMIM:108900 ICD10CM:Q21.1" UBERON:0011364 http://identifiers.org/hgnc/2384 -MONDO:0017355 "An acquired metabolic disease that is has its basis in the disruption of proline metabolic process." "UMLS:CN227118 Orphanet:289866 ICD10:E72.8" +MONDO:0017355 "An acquired metabolic disease that is has its basis in the disruption of proline metabolic process." "UMLS:CN227118 ICD10CM:E72.8 Orphanet:289866" UBERON:0000331 http://identifiers.org/hgnc/9688 http://identifiers.org/hgnc/7027 GO:0045923 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving fatty acids." http://identifiers.org/hgnc/14024 http://identifiers.org/hgnc/6929 -MONDO:0005941 "A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas." "DOID:5875 ICD10:C48 MESH:D012186 NCIT:C3537 SCTID:126872008 ICD10:C48.0 ICD9:158.0 EFO:0007466 ICD9:158" -MONDO:0010788 "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." "ICD10:H47.2 OMIM:308905 UMLS:C0917796 DOID:705 MESH:D029242 OMIM:535000 SCTID:58610003 Orphanet:104 NCIT:C84808 ICD10:H47.22 GARD:0006870" +MONDO:0005941 "A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas." "DOID:5875 MESH:D012186 NCIT:C3537 SCTID:126872008 ICD9:158.0 EFO:0007466 ICD9:158" +MONDO:0010788 "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." "OMIM:308905 UMLS:C0917796 DOID:705 MESH:D029242 OMIM:535000 SCTID:58610003 ICD10CM:H47.2 Orphanet:104 NCIT:C84808 GARD:0006870" MONDO:0009516 "Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." "OMIM:246000 MESH:C565442 UMLS:C1855523 Orphanet:2310" UBERON:0001532 http://identifiers.org/hgnc/3581 UBERON:0001798 -MONDO:0008409 "UMLS:C2931268 UMLS:C0751337 ICD10:G71.0 UMLS:CN074265 Orphanet:437572 SCTID:129620000 OMIM:181430 GARD:0010313" -MONDO:0018268 "Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." "UMLS:CN204847 Orphanet:370127 UMLS:C4305375 SCTID:718554005 ICD10:D69.1" -MONDO:0016426 "Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections." "DOID:0050289 ICD10:B48.7 SCTID:64250002 Orphanet:228119 MESH:D060585 EFO:1001795 MedDRA:10051919" +MONDO:0008409 "UMLS:C2931268 UMLS:C0751337 ICD10CM:G71.0 Orphanet:437572 UMLS:CN074265 SCTID:129620000 OMIM:181430 GARD:0010313" +MONDO:0018268 "Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." "UMLS:CN204847 Orphanet:370127 UMLS:C4305375 ICD10CM:D69.1 SCTID:718554005" +MONDO:0016426 "Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections." "DOID:0050289 SCTID:64250002 Orphanet:228119 MESH:D060585 EFO:1001795 MedDRA:10051919" CHEBI:52210 "A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties." -MONDO:0009321 "Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980." "UMLS:C1856197 Orphanet:2110 GARD:0003118 OMIM:234280 ICD10:Q74.2 MESH:C536885" -MONDO:0008451 "An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration." "DOID:0111200 Orphanet:139518 ICD10:G12.2 NCIT:C132826 UMLS:C1866784 OMIM:182960 MESH:C566675" +MONDO:0009321 "Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980." "UMLS:C1856197 Orphanet:2110 ICD10CM:Q74.2 GARD:0003118 OMIM:234280 MESH:C536885" +MONDO:0008451 "An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration." "DOID:0111200 ICD10CM:G12.2 Orphanet:139518 NCIT:C132826 UMLS:C1866784 OMIM:182960 MESH:C566675" UBERON:0004292 -MONDO:0019050 "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule." "UMLS:C0019045 ICD10:D56.3 SCTID:80141007 NCIT:C3092 SCTID:427306008 ICD9:282.7 MedDRA:10060892 ICD10:D57.1 ICD10:D58.1 ICD10:D58.9 UMLS:C1960031 GARD:0012455 ICD10:D56.2 ICD10:D58.2 ICD10:D56.4 ICD10:D57.3 MESH:D006453 ICD10:D56.0 ICD10:D56.1 ICD10:D58.0 ICD10:D56.8 ICD10:D56.9 ICD10:D58.8 Orphanet:68364 ICD10:D57.0 ICD10:D57.8 DOID:2860 ICD10:D57.2" +MONDO:0019050 "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule." "UMLS:C0019045 ICD10CM:D57.0 ICD10CM:D58.2 ICD10CM:D57.3 SCTID:80141007 NCIT:C3092 SCTID:427306008 ICD10CM:D56.0 ICD9:282.7 MedDRA:10060892 ICD10CM:D56.8 ICD10CM:D57.8 ICD10CM:D58.8 ICD10CM:D58.9 UMLS:C1960031 ICD10CM:D57.1 ICD10CM:D57.2 GARD:0012455 ICD10CM:D58.0 ICD10CM:D58.1 ICD10CM:D56.2 ICD10CM:D56.3 MESH:D006453 ICD10CM:D56.4 Orphanet:68364 ICD10CM:D56.1 DOID:2860 ICD10CM:D56.9" http://identifiers.org/hgnc/11528 -MONDO:0004389 "Infestations with arthropods of the subclass acari, superorder Acariformes." "ICD10:B88.9 ICD9:133.9 DOID:7894 UMLS:C0026229 MESH:D008924 SCTID:240885009 ICD10:B88.0 ICD9:133" +MONDO:0004389 "Infestations with arthropods of the subclass acari, superorder Acariformes." "ICD9:133.9 DOID:7894 UMLS:C0026229 MESH:D008924 SCTID:240885009 ICD9:133" HP:0003241 "Underdevelopment of part or all of the external reproductive organs." "UMLS:C1855333" CL:1000284 "A smooth muscle cell that is part of the descending colon." "FMA:17520" GO:2001198 "Any process that modulates the frequency, rate or extent of dendritic cell differentiation." @@ -24828,29 +24811,29 @@ MONDO:0016314 "OBSOLETE. Rare pancreatic carcinoma." "Orphanet:217074 UMLS:CN201 http://identifiers.org/hgnc/3582 UBERON:0010167 UBERON:0004293 -MONDO:0008408 "SCTID:230248006 ICD9:335.19 OMIM:181405 ICD10:G12.1 Orphanet:431255 DOID:0111552 EFO:1001992 GARD:0010314" +MONDO:0008408 "SCTID:230248006 ICD10CM:G12.1 ICD9:335.19 OMIM:181405 Orphanet:431255 DOID:0111552 EFO:1001992 GARD:0010314" MONDO:0020636 UBERON:0001531 MONDO:0001366 "ICD9:289.52 DOID:11786" UBERON:5106052 -MONDO:0012792 "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene." "OMIM:612075 GARD:0013200 SCTID:765100000 ICD10:G31.8 Orphanet:254803 DOID:0080127 Orphanet:255235 Orphanet:298" +MONDO:0012792 "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene." "OMIM:612075 GARD:0013200 SCTID:765100000 ICD10CM:G31.8 Orphanet:254803 DOID:0080127 Orphanet:255235 Orphanet:298" MONDO:0002968 "A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery." "MESH:D008210 DOID:4347 SCTID:234110002 ICD9:457.8 UMLS:C0024248 NCIT:C78442" MONDO:0018457 "Orphanet:404584 UMLS:CN227376" -MONDO:0009252 "Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated." "ICD10:E74.1 MedDRA:10015487 SCTID:40278002 MESH:C538068 UMLS:C0268160 Orphanet:2056 DOID:0111680 OMIM:229800 ICD10:E74.11" +MONDO:0009252 "Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated." "MedDRA:10015487 SCTID:40278002 MESH:C538068 UMLS:C0268160 Orphanet:2056 DOID:0111680 OMIM:229800 ICD10CM:E74.11 ICD10CM:E74.1" MONDO:0024300 "Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D." "MESH:D063730 NCIT:C131449" GO:1900426 "Any process that activates or increases the frequency, rate or extent of defense response to bacterium." NCBITaxon:123736 "GC_ID:1" UBERON:0011366 GO:0060099 "Any process that modulates the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis." -MONDO:0015841 "Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated." "Orphanet:180129 SCTID:5364006 ICD10:Q51.2" +MONDO:0015841 "Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated." "ICD10CM:Q51.2 Orphanet:180129 SCTID:5364006" CHEBI:35868 "Any monocarboxylic acid which also contains a separate (alcoholic or phenolic) hydroxy substituent." HsapDv:0000113 "Young adult stage that refers to an adult who is under 20." MONDO:0013346 MONDO:0000168 http://identifiers.org/hgnc/10585 -MONDO:0019654 "UMLS:CN206527 Orphanet:93217 ICD10:N04.8" +MONDO:0019654 "UMLS:CN206527 Orphanet:93217 ICD10CM:N04.8" MONDO:0017259 "Orphanet:280926 UMLS:CN202777" -MONDO:0013778 "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene." "UMLS:C1840391 ICD10:I15.1 OMIM:614492 Orphanet:757 Orphanet:88940 MESH:C564162" +MONDO:0013778 "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene." "UMLS:C1840391 OMIM:614492 Orphanet:757 ICD10CM:I15.1 Orphanet:88940 MESH:C564162" HsapDv:0000141 "Middle aged stage that refers to an adult who is over 47 and under 48." MONDO:0012148 "UMLS:C1837154 OMIM:608902 MESH:C563835 EFO:0009161" UBERON:0001792 @@ -24862,12 +24845,12 @@ MONDO:0045043 "A disease or disorder that involves the broad ligament of uterus. GO:0034762 "Any process that modulates the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other." NCBITaxon:123737 "GC_ID:1" GO:0048819 "Any process that modulates the frequency, rate or extent of hair follicle maturation." -MONDO:0000750 "A tooth disease characterized by a localized collection of pus associated with a tooth." "SCTID:299709002 DOID:0060324 UMLS:C0518988 ICD10:K04.6" +MONDO:0000750 "A tooth disease characterized by a localized collection of pus associated with a tooth." "SCTID:299709002 DOID:0060324 UMLS:C0518988" http://identifiers.org/hgnc/11782 -MONDO:0006795 "Overactive functioning of the spleen, resulting in excessive destruction of blood cells." "ICD9:289.4 MESH:D006971 MedDRA:10020769 UMLS:C0020532 SCTID:58381000 DOID:6376 NCIT:C34714 HP:0001971 EFO:1000975 ICD10:D73.1" +MONDO:0006795 "Overactive functioning of the spleen, resulting in excessive destruction of blood cells." "ICD9:289.4 MESH:D006971 MedDRA:10020769 UMLS:C0020532 SCTID:58381000 ICD10CM:D73.1 DOID:6376 NCIT:C34714 HP:0001971 EFO:1000975" MONDO:0002976 "A pathological condition characterized by the presence of a number of gastric diverticula in the stomach." "MESH:D045724 UMLS:C1148546 DOID:4370" MONDO:0004786 "Cholangitis that is persistent and long-standing." "UMLS:C0267918 SCTID:71912000 NCIT:C35335 DOID:9439" -MONDO:0019653 "ICD10:N04.0 Orphanet:93216 UMLS:CN206526" +MONDO:0019653 "ICD10CM:N04.0 Orphanet:93216 UMLS:CN206526" http://identifiers.org/hgnc/29634 UBERON:0001791 MONDO:0013347 @@ -24885,9 +24868,9 @@ MONDO:0018455 "Orphanet:404571" http://identifiers.org/hgnc/11781 HP:0002716 "Enlargment (swelling) of a lymph node." "MSH:D000072281 UMLS:C0497156 SNOMEDCT_US:30746006" MONDO:0015528 "A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative." "NCIT:C4675 MESH:D005887 SCTID:360525006 Orphanet:157826 UMLS:C0376319 DOID:7280" -MONDO:0021019 "X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." "NCIT:C118785 SCTID:78642008 OMIM:300500 ICD10:E70.3 MESH:C537863 GARD:0008471 Orphanet:54 UMLS:C0342684 ICD9:270.2" +MONDO:0021019 "X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." "ICD10CM:E70.3 NCIT:C118785 SCTID:78642008 OMIM:300500 MESH:C537863 GARD:0008471 Orphanet:54 UMLS:C0342684 ICD9:270.2" GO:0032042 "The chemical reactions and pathways involving mitochondrial DNA." -MONDO:0001364 "ICD10:H52.22 DOID:11781 SCTID:68905002 ICD9:367.21 UMLS:C0152193" +MONDO:0001364 "DOID:11781 SCTID:68905002 ICD9:367.21 UMLS:C0152193" UBERON:0011368 MONDO:0014409 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene." "UMLS:C4014745 OMIM:615942" http://identifiers.org/hgnc/30611 @@ -24896,36 +24879,36 @@ MONDO:0000166 "UMLS:CN236791 OMIMPS:610551" MONDO:0010232 "Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms." "GARD:0003017 Orphanet:2978 Orphanet:2301 OMIM:300048 MESH:C535532" GO:0001992 "The regulation of blood pressure mediated by the signaling molecule vasopressin. Vasopressin is produced in the hypothalamus, and affects vasoconstriction, and renal water transport." MONDO:0014842 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene." "DOID:0070071 OMIM:616944 UMLS:C4310784" -MONDO:0015051 "Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children." "Orphanet:100048 ICD10:Q39.8" -MONDO:0019656 "UMLS:CN206529 Orphanet:93220 ICD10:N04.8" +MONDO:0015051 "Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children." "ICD10CM:Q39.8 Orphanet:100048" +MONDO:0019656 "UMLS:CN206529 ICD10CM:N04.8 Orphanet:93220" MONDO:0002801 "Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome." "MESH:D003112 ICD9:564.89 DOID:3876 SCTID:35065006 GARD:0007248 EFO:1000871 UMLS:C0009377" UBERON:0003091 NCBITaxon:84526 "GC_ID:1" -MONDO:0000255 "A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis." "DOID:0050135" -MONDO:0013148 "Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene." "ICD10:I49.8 DOID:0110225 Orphanet:130 OMIM:613123 MESH:C567732 UMLS:C2751083" +MONDO:0000255 "A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis." "ICD10CM:L00-L08 DOID:0050135" +MONDO:0013148 "Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene." "DOID:0110225 Orphanet:130 OMIM:613123 MESH:C567732 UMLS:C2751083" NCBITaxon:6329 "GC_ID:1" http://identifiers.org/hgnc/10583 HsapDv:0000110 "Adolescent stage that refers to an adolescent who is over 16 and under 17 years old." UBERON:0001794 MONDO:0020643 -MONDO:0012124 "Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." "Orphanet:168593 MESH:C563856 GARD:0012382 OMIM:608800 UMLS:C1837371 ICD10:G90.8" +MONDO:0012124 "Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." "Orphanet:168593 MESH:C563856 ICD10CM:G90.8 GARD:0012382 OMIM:608800 UMLS:C1837371" HP:0011376 "A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals." "UMLS:C0542259" MONDO:0018456 "EFO:1002020 SCTID:16044751000119106 Orphanet:404580" UBERON:0018667 MONDO:0024235 "A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature." "ICDO:9000/0 NCIT:C39954 ONCOTREE:BTOV" MONDO:0019076 "Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin." "Orphanet:69744" GO:0033036 "Any process in which a macromolecule is transported to, or maintained in, a specific location." -MONDO:0011945 "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." "MESH:C564306 Orphanet:85212 OMIM:608013 ICD10:E75.2 DOID:0110960 UMLS:C1842704 GARD:0010675 Orphanet:355" +MONDO:0011945 "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." "MESH:C564306 Orphanet:85212 OMIM:608013 DOID:0110960 UMLS:C1842704 ICD10CM:E75.2 GARD:0010675 Orphanet:355" MONDO:0024744 "A neoplasm that arises from the choroid plexus in the brain and occurs during childhood." "NCIT:C42080" MONDO:0001363 "UMLS:C0154789 DOID:11776 ICD9:360.42 SCTID:264008" NCBITaxon:84527 "GC_ID:1" ENVO:00000191 "A part of an astronomical body which is primarily composed of a continuous volume of solid material, shaped by one or more environmental processes." UBERON:0013509 MONDO:0024255 "An instance of skin disease that is caused by a modification of the individual's genome." "MESH:D012873 SCTID:239001006" -MONDO:0008050 "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." "SCTID:764859001 UMLS:CN074249 OMIM:160500 DOID:0070197 ICD10:G71.0 GARD:0010769 Orphanet:59135" +MONDO:0008050 "Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course." "SCTID:764859001 UMLS:CN074249 OMIM:160500 ICD10CM:G71.0 DOID:0070197 GARD:0010769 Orphanet:59135" MONDO:0013039 "Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene." "Orphanet:2616 UMLS:C2752041 OMIM:612921 MESH:C567862" -MONDO:0018849 "Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development." "SCTID:196286005 DOID:4154 Orphanet:49042 MESH:D003811 ICD10:K00.5 GARD:0006258 MedDRA:10054013 NCIT:C84667 HP:0000703 OMIM:125490 ICD9:520.5 UMLS:C0011436 OMIM:125500" -MONDO:0019655 "ICD10:N04.1 UMLS:CN206528 Orphanet:93218" +MONDO:0018849 "Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development." "SCTID:196286005 DOID:4154 Orphanet:49042 MESH:D003811 MedDRA:10054013 GARD:0006258 ICD10CM:K00.5 NCIT:C84667 HP:0000703 OMIM:125490 ICD9:520.5 UMLS:C0011436 OMIM:125500" +MONDO:0019655 "UMLS:CN206528 Orphanet:93218 ICD10CM:N04.1" CHEBI:33822 "An organic compound having at least one hydroxy group attached to a carbon atom." FOODON:00002403 "Any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience"@en MONDO:0006793 "Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma." "ICD9:253.1 EFO:1000973 UMLS:C0020506 MESH:D006964 DOID:2444 SCTID:10649000 MedDRA:10020716" @@ -24933,28 +24916,28 @@ UBERON:0001793 MONDO:0022401 "Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect." "GARD:0000572" http://identifiers.org/hgnc/10582 MONDO:0000165 -MONDO:0019628 "Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly." "OMIM:602482 MedDRA:10059198 ICD10:Q13.8 Orphanet:91483 OMIM:601631 OMIM:137600" -MONDO:0018453 "Orphanet:404560 ICD10:D22.9 OMIM:155600 NCIT:C27264 OMIM:606719" +MONDO:0019628 "Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly." "OMIM:602482 MedDRA:10059198 Orphanet:91483 ICD10CM:Q13.8 OMIM:601631 OMIM:137600" +MONDO:0018453 "Orphanet:404560 OMIM:155600 NCIT:C27264 OMIM:606719" http://identifiers.org/hgnc/11521 GO:0030193 "Any process that modulates the frequency, rate or extent of blood coagulation." -MONDO:0005380 "A none disease characterized by death of bone tissue due to a lack of blood supply." "ICD10:M87.8 EFO:0004259 ICD10:M87.0 DOID:0080008 NCIT:C34841 ICD10:M87.3 ICD9:733.43 MESH:D010020 ICD10:M87.9 ICD9:733.49 ICD9:732.3 NCIT:C35476 SCTID:397758007 NCIT:C34880 ICD10:M87.1 ICD9:733.41 ICD9:733.44 DOID:10159 ICD9:733.4 ICD10:M87.2 SCTID:240196003 ICD9:733.42 ICD10:M87 Orphanet:399158 GARD:0012057" +MONDO:0005380 "A none disease characterized by death of bone tissue due to a lack of blood supply." "EFO:0004259 ICD10CM:M87.3 DOID:0080008 NCIT:C34841 ICD10CM:M87.9 ICD9:733.43 MESH:D010020 ICD9:733.49 ICD9:732.3 NCIT:C35476 ICD10CM:M87.0 SCTID:397758007 NCIT:C34880 ICD9:733.41 ICD10CM:M87 ICD9:733.44 DOID:10159 ICD9:733.4 ICD10CM:M87.2 ICD10CM:M87.1 SCTID:240196003 ICD9:733.42 ICD10CM:M87.8 Orphanet:399158 GARD:0012057" UBERON:0014705 MONDO:0016058 "SCTID:230310003 ICD9:333.99 Orphanet:200037" UBERON:0011104 MONDO:0004403 "A T lymphoblastic leukemia/lymphoma that occurs during childhood." "DOID:7933 UMLS:C1332997 NCIT:C5640" UBERON:0013508 -MONDO:0019650 "ICD10:N04.0 Orphanet:93207 UMLS:CN206522" +MONDO:0019650 "ICD10CM:N04.0 Orphanet:93207 UMLS:CN206522" MONDO:0011153 "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene." "Orphanet:79644 Orphanet:276603 DOID:0070218 UMLS:C2931833 GARD:0009927 OMIM:601820 Orphanet:276580" CL:1000465 "A chromaffin cell that is part of the ovary." "FMA:74319" -MONDO:0000462 "A disease involving the ocular adnexa." "ICD10:H00.H06 SCTID:118941004 UMLS:C1290855 DOID:0050815" +MONDO:0000462 "A disease involving the ocular adnexa." "SCTID:118941004 UMLS:C1290855 ICD10CM:H55-H57 ICD10CM:H00-H06 DOID:0050815 ICD10CM:H00-H59" http://identifiers.org/hgnc/10589 MONDO:0009105 "A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." "Orphanet:84064 OMIMPS:222470 OMIM:222470 UMLS:C1857276 SCTID:703406006 OMIM:614602 DOID:0111414 GARD:0005258" -MONDO:0010691 "Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." "ICD9:743.8 NCIT:C118634 GARD:0007224 MedDRA:10069760 ICD10:H35.5 DOID:0060844 OMIM:310600 SCTID:15228007 Orphanet:649 MESH:C537849" +MONDO:0010691 "Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders." "ICD9:743.8 NCIT:C118634 ICD10CM:H35.5 GARD:0007224 MedDRA:10069760 DOID:0060844 OMIM:310600 SCTID:15228007 Orphanet:649 MESH:C537849" MONDO:0007006 "Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" "SCTID:359837005 EFO:1001224 DOID:4613 MESH:D020424 UMLS:C0154743" -MONDO:0004471 "The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." "EFO:1001351 ICD9:711.94 MESH:D001170 ICD10:M00 ICD9:711.97 ICD9:711.96 ICD10:M00.9 ICD9:711.0 ICD9:711.91 ICD9:711.90 SCTID:48245008 NCIT:C26700 NCIT:C26699 ICD9:711.9 ICD9:711.93 DOID:813 ICD9:711.40 ICD9:711.95 ICD9:711.92" -MONDO:0013873 "IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait." "OMIM:614732 Orphanet:85173 SCTID:702384004 NCIT:C130988 GARD:0012312 ICD9:759.89 ICD10:Q87.1 DOID:0050885 UMLS:C1846009" +MONDO:0004471 "The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." "EFO:1001351 ICD9:711.94 MESH:D001170 ICD9:711.97 ICD9:711.96 ICD9:711.0 ICD9:711.91 ICD9:711.90 SCTID:48245008 NCIT:C26700 NCIT:C26699 ICD9:711.9 ICD9:711.93 DOID:813 ICD9:711.40 ICD9:711.95 ICD9:711.92" +MONDO:0013873 "IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait." "Orphanet:85173 SCTID:702384004 ICD10CM:Q87.1 NCIT:C130988 GARD:0012312 ICD9:759.89 DOID:0050885 UMLS:C1846009 OMIM:614732" MONDO:0000164 -MONDO:0014211 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene." "DOID:0110627 OMIM:615500 ICD10:Q34.8 UMLS:C3809684" +MONDO:0014211 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene." "DOID:0110627 OMIM:615500 UMLS:C3809684" CHEBI:52090 "An organic anion that is the conjugate base of methanol." MONDO:0000890 "A congenital birth syndrome that arises from materal Zika infection." "DOID:0080180" MONDO:0006528 "A bacteria-induced exanthem" "EFO:1000671 DOID:0050487" @@ -24963,50 +24946,50 @@ http://identifiers.org/hgnc/11786 UBERON:0014706 MONDO:0015959 "Orphanet:183527 UMLS:CN200554" NCBITaxon:2732397 "GC_ID:1" -MONDO:0010121 "Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia." "MedDRA:10071719 ICD9:759.89 SCTID:85589009 Orphanet:3320 NCIT:C99038 ICD10:Q87.2 UMLS:C0175703 DOID:14699 MESH:C536940 OMIM:274000 GARD:0005116" +MONDO:0010121 "Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia." "MedDRA:10071719 ICD10CM:Q87.2 ICD9:759.89 SCTID:85589009 Orphanet:3320 NCIT:C99038 UMLS:C0175703 DOID:14699 MESH:C536940 OMIM:274000 GARD:0005116" CL:0002236 "A cell that constitutes the basal layer of epithelium in the prostatic duct." "FMA:74226" http://identifiers.org/hgnc/10588 MONDO:0013849 "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene." "DOID:0070282 UMLS:C3553414 OMIM:614673 Orphanet:2512" NCBITaxon:84529 "GC_ID:1" -MONDO:0014687 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene." "ICD10:H35.5 OMIM:616544 UMLS:C4225287 DOID:0110389" -MONDO:0017256 "Orphanet:280914 SCTID:231947004 ICD10:H20.8 ICD10:H20.9 ICD10:H20.0 ICD10:H20.2 ICD10:H20.1 UMLS:C0339315" +MONDO:0014687 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene." "OMIM:616544 UMLS:C4225287 DOID:0110389" +MONDO:0017256 "Orphanet:280914 SCTID:231947004 ICD10CM:H20.0 ICD10CM:H20.1 ICD10CM:H20.2 ICD10CM:H20.8 UMLS:C0339315 ICD10CM:H20.9" CL:0000835 "The most primitive precursor in the granulocytic series, having fine, evenly distributed chromatin, several nucleoli, a high nuclear-to-cytoplasmic ration (5:1-7:1), and a nongranular basophilic cytoplasm. They reside in the bone marrow." "FMA:83524 BTO:0000187" CL:0002604 CL:0000207 "BTO:0004185 FMA:67860 Wikipedia:Olfactory_receptor_neuron" UBERON:0013507 MONDO:0001847 "A senile cataract that involves the lens nucleus." "DOID:13963 ICD9:366.16 SCTID:193589009" MF:0000031 "A representation which specifically depends on an anatomical structure in the cognitive system of an organism." -MONDO:0002714 "A malignant neoplasm involving the central nervous system" "NCIT:C4627 MESH:D016543 DOID:3620 SCTID:126951006 ICD9:239.7 EFO:0000326 ICD10:C72.9" +MONDO:0002714 "A malignant neoplasm involving the central nervous system" "NCIT:C4627 MESH:D016543 DOID:3620 SCTID:126951006 ICD10CM:C69-C72 ICD9:239.7 EFO:0000326" ENVO:00000176 "A landform elevated above the surrounding area." MONDO:0000163 MONDO:0002560 -MONDO:0001149 "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex." "HP:0000252 ICD9:742.1 OMIM:251200 SCTID:1829003 NCIT:C85874 ICD10:Q02 OMIM:608393 OMIM:604804 OMIM:608716 OMIM:604321 DOID:10907 OMIM:612703 GARD:0003603" +MONDO:0001149 "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex." "HP:0000252 ICD9:742.1 OMIM:251200 SCTID:1829003 NCIT:C85874 OMIM:608393 OMIM:604804 OMIM:608716 OMIM:604321 DOID:10907 OMIM:612703 GARD:0003603" HP:0000625 "A short discontinuity of the margin of the lower or upper eyelid." "UMLS:C0521573 SNOMEDCT_US:95202004" UBERON:0014703 -MONDO:0010035 "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems." "ICD9:759.89 DOID:14692 ICD10:Q87.1 GARD:0005683 Orphanet:818 SCTID:43929004 MESH:D019082 NCIT:C85071 ICD10:E78.72 OMIM:270400 UMLS:C0175694" +MONDO:0010035 "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems." "ICD9:759.89 DOID:14692 ICD10CM:E78.72 GARD:0005683 Orphanet:818 SCTID:43929004 MESH:D019082 NCIT:C85071 OMIM:270400 UMLS:C0175694 ICD10CM:Q87.1" MONDO:0004586 "Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis." "SCTID:398726004 DOID:849 ICD9:714.81 UMLS:C0994344" -MONDO:0008769 "A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "DOID:0110726 ICD10:E75.4 GARD:0003045 Orphanet:228349 OMIM:204500 Orphanet:79264 Orphanet:168491 NCIT:C85864" +MONDO:0008769 "A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "DOID:0110726 GARD:0003045 ICD10CM:E75.4 Orphanet:228349 OMIM:204500 Orphanet:79264 Orphanet:168491 NCIT:C85864" MONDO:0014977 "An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking." "OMIM:617232 UMLS:C4310660 Orphanet:480682 NCIT:C142082 UMLS:CN776834" -MONDO:0006534 "A type of physical urticarias (or hives) that appears when a person is sweating." "DOID:14443 Wikipedia:Cholinergic_urticaria ICD9:708.5 ICD10:L50.5 EFO:1000679 SCTID:73098005 UMLS:C0152230" +MONDO:0006534 "A type of physical urticarias (or hives) that appears when a person is sweating." "DOID:14443 Wikipedia:Cholinergic_urticaria ICD9:708.5 EFO:1000679 ICD10CM:L50.5 SCTID:73098005 UMLS:C0152230" MONDO:0001360 "UMLS:C0154788 ICD9:360.41 DOID:11766 SCTID:23360000" http://identifiers.org/hgnc/14282 -MONDO:0002441 "An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome." "UMLS:C0022387 ICD10:I45.8 DOID:2842 OMIM:612347 OMIM:220400 GARD:0003048 MESH:D029593 Orphanet:90647 OMIMPS:220400 NCIT:C84793 MedDRA:10057936 SCTID:373905003 Orphanet:768" +MONDO:0002441 "An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome." "UMLS:C0022387 DOID:2842 OMIM:612347 OMIM:220400 GARD:0003048 MESH:D029593 Orphanet:90647 OMIMPS:220400 NCIT:C84793 MedDRA:10057936 ICD10CM:I45.8 SCTID:373905003 Orphanet:768" UBERON:0018664 -MONDO:0016056 "Orphanet:199642 DOID:0070297 ICD10:Q02 MedDRA:10027534 GARD:0007038" -MONDO:0009999 "Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." "Orphanet:1507 ICD10:Q87.1 MESH:C535863 Orphanet:97360 OMIM:268310 UMLS:C1849334 DOID:0060764" -MONDO:0016052 "Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" "MedDRA:10003747 ICD10:F84.1 SCTID:231536004 Orphanet:199627 ICD9:299.80" -MONDO:0019652 "Orphanet:93214 UMLS:CN206525 ICD10:N04.3" +MONDO:0016056 "Orphanet:199642 DOID:0070297 ICD10CM:Q02 MedDRA:10027534 GARD:0007038" +MONDO:0009999 "Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." "Orphanet:1507 MESH:C535863 Orphanet:97360 OMIM:268310 UMLS:C1849334 DOID:0060764 ICD10CM:Q87.1" +MONDO:0016052 "Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" "MedDRA:10003747 SCTID:231536004 Orphanet:199627 ICD9:299.80" +MONDO:0019652 "ICD10CM:N04.3 Orphanet:93214 UMLS:CN206525" MONDO:0017253 MONDO:0021276 "A papilloma that involves the buccal mucosa." "UMLS:C1332641 SCTID:448147005 ICD9:210.4 NCIT:C5819" UBERON:0001790 -MONDO:0007163 "Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." "SCTID:420932006 ICD10:G11.8 Orphanet:97 GARD:0009602 DOID:0050990 MESH:C535506 UMLS:C1720416 OMIM:108500" +MONDO:0007163 "Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." "ICD10CM:G11.8 SCTID:420932006 Orphanet:97 GARD:0009602 DOID:0050990 MESH:C535506 UMLS:C1720416 OMIM:108500" UBERON:0011107 UBERON:0013506 http://identifiers.org/hgnc/15480 UBERON:0014702 http://identifiers.org/hgnc/1190 MONDO:0000162 -MONDO:0014873 "A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood." "NCIT:C3946 ICD10:Q82.5 Orphanet:64754 OMIM:617025 SCTID:35962006 GARD:0013073 UMLS:C0265987" +MONDO:0014873 "A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood." "NCIT:C3946 ICD10CM:Q82.5 Orphanet:64754 OMIM:617025 SCTID:35962006 GARD:0013073 UMLS:C0265987" MONDO:0018452 MONDO:0016455 "Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients." "UMLS:C3267126 Orphanet:228379" MONDO:0010856 "Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)." "SCTID:765331004 UMLS:C1838327 Orphanet:88924 OMIM:600273 MESH:C536328 GARD:0009481" @@ -25020,15 +25003,15 @@ MONDO:0035117 "Orphanet:589515" UBERON:0011108 MONDO:0017254 http://identifiers.org/hgnc/10586 -MONDO:0010060 "Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." "DOID:0050556 SCTID:724227000 UMLS:C1849096 MESH:C535523 ICD10:G11.1 OMIM:271245 Orphanet:1186 GARD:0004062 DOID:0080126" +MONDO:0010060 "Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families." "DOID:0050556 SCTID:724227000 UMLS:C1849096 MESH:C535523 OMIM:271245 Orphanet:1186 ICD10CM:G11.1 GARD:0004062 DOID:0080126" CL:1001572 "A vascular endothelial cell found in colon blood vessels." "CALOHA:TS-2397" -MONDO:0019651 "ICD10:N04.3 Orphanet:93209 UMLS:CN206523" +MONDO:0019651 "ICD10CM:N04.3 Orphanet:93209 UMLS:CN206523" GO:0070085 "The covalent attachment and further modification of carbohydrate residues to a substrate molecule." UBERON:0013505 FOODON:03400260 "Nuts in all forms, including nut butters and pastes."@en "http://www.langual.org/langual_thesaurus.asp?termid=A0260" ENVO:01000155 "Environmental material derived from living organisms and composed primarily of one or more biomacromolecules." HP:0001943 "A decreased concentration of glucose in the blood." "SNOMEDCT_US:237630007 SNOMEDCT_US:271327008 UMLS:C0020615 MSH:D007003 SNOMEDCT_US:302866003" -MONDO:0001752 "A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)" "MESH:D004368 ICD10:M27.3 UMLS:C0013240 SCTID:61804006 DOID:13585 ICD9:526.5" +MONDO:0001752 "A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)" "MESH:D004368 UMLS:C0013240 SCTID:61804006 DOID:13585 ICD9:526.5" MONDO:0100455 "A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur." MONDO:0000161 "UMLS:C1621895" MONDO:0003639 "A benign or malignant neoplasm that arises from the hilar region of the lung." "NCIT:C5671 DOID:5767 UMLS:C1290358 SCTID:126707007" @@ -25039,14 +25022,14 @@ SO:0000001 "A sequence_feature with an extent greater than zero. A nucleotide re CHEBI:16827 "A 21-hydroxy steroid that consists of pregn-4-ene substituted by hydroxy groups at positions 11 and 21 and oxo groups at positions 3 and 20. Corticosterone is a 21-carbon steroid hormone of the corticosteroid type produced in the cortex of the adrenal glands." UBERON:0007625 UBERON:0013503 -MONDO:0019147 "The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes." "Orphanet:75110 NCIT:C128400 UMLS:C0027030 DOID:11080 MESH:D009198 ICD10:B87.4 ICD9:134.0 EFO:0007389 MedDRA:10028586 SCTID:60412004 ICD10:B87.2 ICD10:B87.8 ICD10:B87.3 ICD10:B87 ICD10:B87.9 ICD10:B87.0 ICD10:B87.1" +MONDO:0019147 "The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes." "ICD10CM:B87.8 ICD10CM:B87.4 MESH:D009198 ICD10CM:B87.3 UMLS:C0027030 ICD10CM:B87.9 DOID:11080 ICD10CM:B87.0 MedDRA:10028586 ICD10CM:B87.2 NCIT:C128400 Orphanet:75110 SCTID:60412004 ICD9:134.0 ICD10CM:B87.1 EFO:0007389" MONDO:0032617 "OMIM:618234" HP:0031409 "Any anomaly of lymphocyte function." -MONDO:0021459 "A benign neoplasm that involves the esophagus." "UMLS:C0153942 SCTID:92091003 ICD10:D13.0 NCIT:C3598 ICD9:211.0" +MONDO:0021459 "A benign neoplasm that involves the esophagus." "UMLS:C0153942 SCTID:92091003 NCIT:C3598 ICD9:211.0 ICD10CM:D13.0" MONDO:0012140 "OMIM:608852" http://identifiers.org/hgnc/27232 UBERON:0013504 -MONDO:0008931 "Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." "ICD10:Q78.4 UMLS:C1859309 GARD:0005084 MESH:C538150 SCTID:720633009 Orphanet:3258 OMIM:212780 DOID:0090015" +MONDO:0008931 "Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." "UMLS:C1859309 GARD:0005084 MESH:C538150 SCTID:720633009 Orphanet:3258 OMIM:212780 DOID:0090015 ICD10CM:Q78.4" GO:1905707 "Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial ATP synthesis coupled proton transport." MONDO:0016936 "A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18." "Orphanet:262682" UBERON:0008822 @@ -25057,9 +25040,9 @@ MONDO:0001107 http://identifiers.org/hgnc/26034 MONDO:0005187 "An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma." "EFO:0002612 NCIT:C39291 UMLS:C1512508" MONDO:0003130 "A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult." "SCTID:307604008 ICD9:236.99 UMLS:C0206628 DOID:4772 MESH:D018201" -MONDO:0010044 "Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding." "UMLS:C1849128 MESH:C536642 GARD:0009581 ICD10:G11.4 OMIM:270700 SCTID:709417000 Orphanet:100996 DOID:0110768" +MONDO:0010044 "Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding." "UMLS:C1849128 MESH:C536642 ICD10CM:G11.4 GARD:0009581 OMIM:270700 SCTID:709417000 Orphanet:100996 DOID:0110768" MONDO:0032616 "OMIM:618233" -MONDO:0019171 "A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias." "OMIM:192500 OMIM:220400 OMIM:611820 OMIM:603830 OMIM:611819 OMIM:601005 OMIM:613693 OMIM:600919 UMLS:C1141890 OMIM:613688 OMIM:612955 UMLS:C0035828 OMIM:611818 OMIM:613695 MedDRA:10057926 OMIM:616249 OMIM:612347 Orphanet:768 ICD10:I45.8 OMIM:613485 OMIM:616247 OMIMPS:192500 SCTID:442917000" +MONDO:0019171 "A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias." "ICD10CM:I45.8 OMIM:192500 OMIM:220400 OMIM:611820 OMIM:603830 OMIM:611819 OMIM:601005 OMIM:613693 OMIM:600919 UMLS:C1141890 OMIM:613688 OMIM:612955 UMLS:C0035828 OMIM:611818 OMIM:613695 MedDRA:10057926 OMIM:616249 OMIM:612347 Orphanet:768 OMIM:613485 OMIM:616247 OMIMPS:192500 SCTID:442917000" UBERON:0013502 NCBITaxon:2169561 "GC_ID:1" HP:0025032 "A functional anomaly of the digestive system." @@ -25067,10 +25050,10 @@ UBERON:0013769 http://identifiers.org/hgnc/17616 MONDO:0002729 "A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." "EFO:1000512 DOID:3674 UMLS:C0854917 NCIT:C8715" MONDO:0006263 -MONDO:0031037 "A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." "UMLS:C2931263 SCTID:717003001 OMIM:603284 OMIM:116860 OMIMPS:116860 Orphanet:221061 OMIM:603285 ICD10:Q28.3" +MONDO:0031037 "A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." "UMLS:C2931263 SCTID:717003001 OMIM:603284 OMIM:116860 OMIMPS:116860 ICD10CM:Q28.3 Orphanet:221061 OMIM:603285" CL:0000786 "A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin." "FMA:70574 BTO:0000392" http://identifiers.org/hgnc/5985 -MONDO:0013360 "Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias." "SCTID:389165004 Orphanet:93302 OMIM:613678 ICD10:Q76.3" +MONDO:0013360 "Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias." "SCTID:389165004 Orphanet:93302 ICD10CM:Q76.3 OMIM:613678" UBERON:0008823 MONDO:0009446 "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive." "UMLS:C1855787 GARD:0004641 OMIM:242530 Orphanet:2278 MESH:C536274" UBERON:0014701 @@ -25080,12 +25063,12 @@ MFOMD:0000004 "A disease that involves a psychological or behavioral pattern gen MONDO:0007617 "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene." "UMLS:CN029606 MESH:C538391 UMLS:C1864967 GARD:0009945 UMLS:C3281201 OMIM:135900 DOID:0070042 Orphanet:1465 OMIM:609943 OMIM:614562 UMLS:C0265338" MONDO:0007462 "OMIM:126200 OMIMPS:126200" MONDO:0035112 "Orphanet:585867 NCIT:C129785" -MONDO:0011076 "Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure." "DOID:0080092 ICD10:G71.8 OMIM:601419 UMLS:C1832370 Orphanet:98909" -MONDO:0016168 "Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS)." "ICD9:759.89 UMLS:C2316212 GARD:0010927 NCIT:C84657 MedDRA:10068850 Orphanet:208650 SCTID:430079001 ICD10:E85.0 MESH:D056587" +MONDO:0011076 "Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure." "DOID:0080092 OMIM:601419 UMLS:C1832370 ICD10CM:G71.8 Orphanet:98909" +MONDO:0016168 "Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS)." "ICD9:759.89 UMLS:C2316212 GARD:0010927 ICD10CM:E85.0 NCIT:C84657 MedDRA:10068850 Orphanet:208650 SCTID:430079001 MESH:D056587" UBERON:0013501 NCBITaxon:2732396 "GC_ID:1" http://identifiers.org/hgnc/27230 -MONDO:0010649 "Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma." "SCTID:734026006 GARD:0012648 OMIM:309300 Orphanet:91489 ICD10:Q15.8" +MONDO:0010649 "Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma." "SCTID:734026006 GARD:0012648 OMIM:309300 ICD10CM:Q15.8 Orphanet:91489" MONDO:0032619 "OMIM:618236" MONDO:0010341 "A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations)." "MESH:D038901 OMIM:300495" MONDO:0021457 "A benign neoplasm that involves the pleura." "ICD9:212.4 SCTID:92298003 UMLS:C0153955 NCIT:C3603" @@ -25095,7 +25078,7 @@ UBERON:0013768 CL:0000348 "A cell of the choroid of the eye." UBERON:0015063 GO:0061007 "An system process carried out by any of the organs or tissues of the hepaticobiliary system. The hepaticobiliary system is responsible for metabolic and catabolic processing of small molecules absorbed from the blood or gut, hormones and serum proteins, detoxification, storage of glycogen, triglycerides, metals and lipid soluble vitamins and excretion of bile. Included are the synthesis of albumin, blood coagulation factors, complement, and specific binding proteins." -MONDO:0019977 "Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction." "ICD10:F02.3* ICD10:G20+ UMLS:CN206908 Orphanet:97355 SCTID:715737004" +MONDO:0019977 "Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction." "ICD10EXP:G20+ UMLS:CN206908 Orphanet:97355 SCTID:715737004 ICD10EXP:F02.3*" GO:0006858 "The transport of substances that occurs outside cells." UBERON:0012303 MONDO:0010846 "OMIM:600209 Orphanet:321 MESH:C563975 UMLS:C1838420 GARD:0002206" @@ -25103,18 +25086,18 @@ MONDO:0007463 "UMLS:C1852063 OMIM:126250 MESH:C565093" GO:2000859 "Any process that stops, prevents or reduces the frequency, rate or extent of aldosterone secretion." MONDO:0000400 "A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy." "DOID:0050673 SCTID:702318008 UMLS:C0751024 NCIT:C97177 ICD9:343.8" MONDO:0032618 "OMIM:618235" -MONDO:0012143 "Orphanet:168577 MESH:C563840 ICD10:D58.8 UMLS:C1837206 OMIM:608885" +MONDO:0012143 "Orphanet:168577 MESH:C563840 UMLS:C1837206 OMIM:608885 ICD10CM:D58.8" MONDO:0019151 "Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal colour vision." "Orphanet:75378 SCTID:722066001 UMLS:CN205696 UMLS:C4302876" GO:0016125 "The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule." UBERON:0015064 GO:0045840 "Any process that activates or increases the frequency, rate or extent of mitosis." MONDO:0006622 "A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation." "EFO:1000779 DOID:6944 UMLS:C1336981 NCIT:C6375" MONDO:0001104 "SCTID:267374005 ICD9:242.00 DOID:10719" -MONDO:0016275 "A adenocarcinoma that involves the uterine cervix." "ICD10:C53.1 Orphanet:213772 ICD10:C53.0 ICD10:C53.8" +MONDO:0016275 "A adenocarcinoma that involves the uterine cervix." "ICD10CM:C53.0 ICD10CM:C53.1 ICD10CM:C53.8 Orphanet:213772" MONDO:0033810 "Orphanet:519392" http://identifiers.org/hgnc/28434 MONDO:0001222 "A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective." "DOID:11200 UMLS:C1333147 NCIT:C27872" -MONDO:0008054 "Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations." "GARD:0006805 EFO:0000557 DOID:14203 MESH:C000598745 Orphanet:93672 ICD10:M33.0 MESH:C538250 MedDRA:10008521 SCTID:1212005 MESH:D003882 UMLS:C2931785 NCIT:C27576" +MONDO:0008054 "Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations." "GARD:0006805 EFO:0000557 DOID:14203 MESH:C000598745 Orphanet:93672 MESH:C538250 MedDRA:10008521 SCTID:1212005 MESH:D003882 UMLS:C2931785 NCIT:C27576" UBERON:0005226 MONDO:0010849 "Orphanet:2337 DOID:0111707 OMIM:600231 GARD:0001862" http://identifiers.org/hgnc/18817 @@ -25128,7 +25111,7 @@ MONDO:0032612 "OMIM:618229" http://identifiers.org/hgnc/17619 MONDO:0014967 "Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene." "OMIM:617205 UMLS:C4310668" http://identifiers.org/hgnc/6081 -MONDO:0019658 "Orphanet:93222 ICD10:N04.3 UMLS:CN206531" +MONDO:0019658 "ICD10CM:N04.3 Orphanet:93222 UMLS:CN206531" UBERON:0015061 GO:0051984 "Any process that activates or increases the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets." UBERON:0008826 @@ -25137,7 +25120,7 @@ http://identifiers.org/hgnc/26038 IAO:0000027 "An information content entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements."@en MONDO:0025263 "Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum." "UMLS:C0038459 MESH:D013319" UBERON:0005227 -MONDO:0012622 "This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter." "OMIM:611105 MESH:C567009 GARD:0012652 ICD10:E75.2 SCTID:703537008 Orphanet:137898" +MONDO:0012622 "This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter." "OMIM:611105 MESH:C567009 GARD:0012652 SCTID:703537008 ICD10CM:E75.2 Orphanet:137898" CHR:9606-chr2p21 MONDO:0020725 "Anemia due to a disorder that is persistent or long-standing in nature." "ICD9:285.29 NCIT:C35659 SCTID:234347009 UMLS:C0002873" MONDO:0032878 "OMIM:618718" @@ -25145,42 +25128,42 @@ NCBITaxon:12103 "GC_ID:1" MONDO:0100392 "Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)" "NCIT:C175582" BFO:0000001 MONDO:0002302 -MONDO:0009566 "Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." "GARD:0003388 UMLS:C1855347 OMIM:248770 MESH:C565410 ICD10:Q87.8 Orphanet:2463" -MONDO:0019657 "Orphanet:93221 ICD10:N04.0 UMLS:CN206530" +MONDO:0009566 "Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." "GARD:0003388 UMLS:C1855347 OMIM:248770 MESH:C565410 ICD10CM:Q87.8 Orphanet:2463" +MONDO:0019657 "Orphanet:93221 UMLS:CN206530 ICD10CM:N04.0" MONDO:0032611 "OMIM:618228" PO:0025004 "An axial plant organ (PO:0009008)." CHEBI:84124 "A non-proteinogenic amino acid derivative resulting from reaction of D-tyrosine at the amino group or the carboxy group, or from the replacement of any hydrogen of D-tyrosine by a heteroatom." MONDO:0004423 "An osteosarcoma arising from the brain or spinal cord." "DOID:7994 NCIT:C7002 UMLS:C1335150" MONDO:0006690 "Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax." "SCTID:86003009 EFO:1000853 DOID:3410 ICD9:433.10 MedDRA:10007688 MESH:D002341 UMLS:C0007274" MONDO:0003649 "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus." "Orphanet:506136 NCIT:C95616 DOID:5784 UMLS:C1333462 UMLS:C2987260" -MONDO:0012994 "Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." "GARD:0010365 ICD10:G24.1 DOID:0111168 SCTID:45116002 ICD9:277.89 OMIM:612716 Orphanet:70594 UMLS:C0268468 MESH:C562657" +MONDO:0012994 "Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." "ICD10CM:G24.1 GARD:0010365 DOID:0111168 SCTID:45116002 ICD9:277.89 OMIM:612716 Orphanet:70594 UMLS:C0268468 MESH:C562657" http://identifiers.org/hgnc/6080 -MONDO:0008044 "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene." "UMLS:C1834570 DOID:0090034 OMIM:159900 ICD10:G24.1 OMIM:616398" -MONDO:0003014 "An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge." "SCTID:70076002 MESH:D012220 NCIT:C34986 ICD10:J30 DOID:4483 EFO:0008521 UMLS:C0035455" +MONDO:0008044 "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene." "UMLS:C1834570 DOID:0090034 OMIM:159900 OMIM:616398" +MONDO:0003014 "An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge." "SCTID:70076002 MESH:D012220 NCIT:C34986 DOID:4483 EFO:0008521 UMLS:C0035455 ICD10CM:J30" NCBITaxon:140693 "GC_ID:1" MONDO:0016779 "Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma." "Orphanet:254519 DOID:0111712 OMIM:608149" MONDO:0001368 "DOID:11793 ICD9:371.05 SCTID:28143002 UMLS:C0155102" -MONDO:0015740 "Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy." "Orphanet:1715 GARD:0005323 MESH:C538307 ICD10:Q92.2" +MONDO:0015740 "Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy." "Orphanet:1715 GARD:0005323 MESH:C538307 ICD10CM:Q92.2" UBERON:0005228 -MONDO:0010911 "Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men." "NCIT:C3342 Orphanet:314777 OMIM:600634 UMLS:C0033375 GARD:0004508 DOID:5394 SCTID:134209002 MedDRA:10036832 Orphanet:2965 ICD10:D35.2 ICDO:8271/0 MESH:D015175 EFO:1000496 ICD10:E22.1" +MONDO:0010911 "Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men." "NCIT:C3342 Orphanet:314777 OMIM:600634 UMLS:C0033375 GARD:0004508 DOID:5394 SCTID:134209002 MedDRA:10036832 Orphanet:2965 ICDO:8271/0 MESH:D015175 EFO:1000496" MONDO:0001102 GO:0019218 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving steroids." -MONDO:0015277 "A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy." "ONCOTREE:THME NCIT:C3879 GARD:0007004 UMLS:C0238462 MedDRA:10027101 SCTID:255032005 UMLS:C0206693 HP:0002865 Orphanet:1332 DOID:3973 ICD10:C73" -MONDO:0013584 "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13." "GARD:11927 MESH:C580162 ICD10:G60.8 Orphanet:456318 GARD:0011927 DOID:0070158 UMLS:C3279885 OMIM:614116" -MONDO:0009339 "Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." "UMLS:C1856127 Orphanet:79303 ICD10:K76.8 OMIM:235555 GARD:0010045 DOID:0111069 MESH:C535443" +MONDO:0015277 "A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy." "ONCOTREE:THME NCIT:C3879 GARD:0007004 ICD10CM:C73 UMLS:C0238462 MedDRA:10027101 SCTID:255032005 UMLS:C0206693 HP:0002865 Orphanet:1332 DOID:3973" +MONDO:0013584 "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13." "GARD:11927 ICD10CM:G60.8 UMLS:C3279885 DOID:0070158 Orphanet:456318 GARD:0011927 MESH:C580162 OMIM:614116" +MONDO:0009339 "Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." "UMLS:C1856127 ICD10CM:K76.8 Orphanet:79303 OMIM:235555 GARD:0010045 DOID:0111069 MESH:C535443" MONDO:0032615 "OMIM:618232" HP:0031694 "An unusually severe adenovirus infection." MONDO:0016558 "Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected." "OMIMPS:157600 GARD:0012551 OMIM:614508 DOID:0111153 Orphanet:238722 SCTID:229247004 OMIM:157600 OMIM:616059" MONDO:0003186 "An infrequent esophageal carcinoma arising from esophageal glands. (WHO)" "NCIT:C5342 DOID:4878 UMLS:C1333441" -MONDO:0014106 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene." "OMIM:615270 ICD10:E23.0 DOID:0090082 UMLS:C3808983" -MONDO:0008754 "Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome." "ICD10:Q87.8 MESH:C537051 OMIM:203550 GARD:0000605 UMLS:C0795895 Orphanet:1005" +MONDO:0014106 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene." "OMIM:615270 DOID:0090082 UMLS:C3808983" +MONDO:0008754 "Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome." "MESH:C537051 ICD10CM:Q87.8 OMIM:203550 GARD:0000605 UMLS:C0795895 Orphanet:1005" UBERON:0008824 MONDO:0000670 "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact." "UMLS:C0392704 DOID:0060140" -MONDO:0008586 "Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea." "GARD:0007792 OMIM:189960 ICD10:Q39.1 Orphanet:1199 SCTID:95435007 MedDRA:10030146 ICD10:Q39.0 DOID:0080171 MedDRA:10021530 MESH:C531835" -MONDO:0005136 "Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired." "UMLS:C0024530 DOID:12365 ICD10:B50.0 SCTID:61462000 ICD10:B51.8 MedDRA:10025487 ICD10:B52.9 ICD10:B51.0 OMIM:611162 Orphanet:673 ICD10:B53.8 ICD10:B52.8 EFO:0001068 ICD10:B53 ICD9:084.6 ICD10:B53.0 ICD9:084 ICD10:B52.0 GARD:0006961 ICD10:B51.9 NCIT:C34797 ICD10:B50.8 ICD10:B54 ICD10:B50.9 ICD10:B53.1 MESH:D008288 OMIM:609148" +MONDO:0008586 "Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea." "GARD:0007792 OMIM:189960 Orphanet:1199 SCTID:95435007 MedDRA:10030146 DOID:0080171 MedDRA:10021530 MESH:C531835" +MONDO:0005136 "Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired." "ICD10CM:B51.8 ICD10CM:B53.0 UMLS:C0024530 ICD10CM:B51.0 DOID:12365 SCTID:61462000 ICD10CM:B54 ICD10CM:B50.9 MedDRA:10025487 ICD10CM:B51.9 ICD10CM:B53.1 OMIM:611162 Orphanet:673 ICD10CM:B50.8 ICD10CM:B52.8 ICD10CM:B52.9 EFO:0001068 ICD10CM:B50.0 ICD9:084.6 ICD10CM:B52.0 ICD9:084 ICD10CM:B53 GARD:0006961 NCIT:C34797 ICD10CM:B53.8 MESH:D008288 OMIM:609148" MONDO:0001199 "Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity." "ICD9:385.23 DOID:11129 SCTID:87040007" UBERON:0005229 -MONDO:0035375 "Orphanet:598363 ICD10:U10.9" +MONDO:0035375 "Orphanet:598363" UBERON:0015060 MONDO:0032614 "OMIM:618231" MONDO:0005418 "Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." "EFO:0004686" @@ -25188,14 +25171,14 @@ MONDO:0006261 FOODON:03420167 "The fleshy fruit of any plant. *FRUIT* includes vegetables berries and pods as well. The bulk of a fruit is its fleshy part, which is covered by a peel (skin) and which encloses a core, pit or seeds."@en HP:0000001 "UMLS:C0444868" MONDO:0002566 -MONDO:0015804 "A botulism that occurs between 28 days to one year of life.." "ICD10:A05.1 Orphanet:178478 SCTID:414488002 ICD10:A48.51 UMLS:C0238027 NCIT:C128343 DOID:0050354" +MONDO:0015804 "A botulism that occurs between 28 days to one year of life.." "Orphanet:178478 SCTID:414488002 ICD10CM:A48.51 UMLS:C0238027 NCIT:C128343 ICD10CM:A05.1 DOID:0050354" MONDO:0000169 "OMIMPS:156850" NCBITaxon:1489341 "GC_ID:1" PO:0008028 "A shoot apical meristem (PO:0020148) that gives rise to the apical growth of reproductive tissues and organs." "PO_GIT:36" MONDO:0006167 "A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells." "EFO:1000200 NCIT:C7591 UMLS:C1333123" MONDO:0001811 "A cataract resulting from hypocalcemia." "DOID:13822 UMLS:C0039613 ICD9:366.42 NCIT:C35068 SCTID:68216000" MONDO:0002718 "A mature or immature teratoma that affects the central nervous system." "NCIT:C5441 UMLS:C1332895 DOID:3640 Orphanet:252018" -MONDO:0009823 "A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." "NCIT:C123212 ICD10:E74.8 OMIM:259900 MESH:C536414 Orphanet:416 GARD:0002835 UMLS:C0268164 SCTID:65520001 Orphanet:93598 ICD9:271.8 DOID:0111670" +MONDO:0009823 "A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." "NCIT:C123212 ICD10CM:E74.8 OMIM:259900 MESH:C536414 Orphanet:416 GARD:0002835 UMLS:C0268164 SCTID:65520001 Orphanet:93598 ICD9:271.8 DOID:0111670" MONDO:0021283 "A malignant teratoma that involves the mediastinum." "NCIT:C4668 UMLS:C0349663 SCTID:278042005" GO:0001942 "The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open." UBERON:0005222 @@ -25204,40 +25187,40 @@ GO:0044851 "The cyclical periods of growth (anagen), regression (catagen), quies http://identifiers.org/hgnc/7013 MONDO:0021650 "An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma." "NCIT:C126771 UMLS:C4288048" MONDO:0008677 "OMIM:194000 HP:0000349" -MONDO:0008815 "Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction." "GARD:0005843 OMIM:207900 MESH:D056807 MedDRA:10058299 UMLS:C0268547 DOID:14755 ICD10:E72.2 SCTID:41013004 Orphanet:23 NCIT:C84569" +MONDO:0008815 "Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction." "GARD:0005843 OMIM:207900 MESH:D056807 MedDRA:10058299 UMLS:C0268547 DOID:14755 SCTID:41013004 Orphanet:23 ICD10CM:E72.2 NCIT:C84569" MONDO:0060592 "OMIM:617746 UMLS:C4540299 DOID:0080538" MONDO:0006016 CHR:9606-chr19p13.1 CHEBI:38101 "Any organonitrogen compound containing a cyclic component with nitrogen and at least one other element as ring member atoms." MONDO:0032874 "OMIM:618699" -MONDO:0015235 "Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients." "Orphanet:1130 UMLS:CN197590 ICD10:Q87.8 GARD:0000764 SCTID:720502000" -MONDO:0003315 "A carcinoma in situ involving a endometrium." "SCTID:92582009 UMLS:C0346191 DOID:5172 ICD9:233.2 ICD10:D07.0" +MONDO:0015235 "Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients." "Orphanet:1130 UMLS:CN197590 GARD:0000764 SCTID:720502000 ICD10CM:Q87.8" +MONDO:0003315 "A carcinoma in situ involving a endometrium." "SCTID:92582009 UMLS:C0346191 DOID:5172 ICD10CM:D07.0 ICD9:233.2" http://identifiers.org/hgnc/3571 MONDO:0003243 "A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells." "UMLS:C1333067 NCIT:C5754 ICDO:8174/3 DOID:5016" HP:0001997 "Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues." "SNOMEDCT_US:170733007 SNOMEDCT_US:90560007 UMLS:C0003868 UMLS:C0018099 MSH:D006073 SNOMEDCT_US:48440001 MSH:D015210 SNOMEDCT_US:190828008" -MONDO:0006574 "A neoplastic process characterized by diffuse overgrowth of mature adipose tissue." "MESH:D008068 ICD10:E88.2 ICD9:272.8 DOID:3153 Wikipedia:Lipomatosis NCIT:C3193 UMLS:C0023801 EFO:1000728 SCTID:402693001" +MONDO:0006574 "A neoplastic process characterized by diffuse overgrowth of mature adipose tissue." "MESH:D008068 ICD9:272.8 DOID:3153 Wikipedia:Lipomatosis NCIT:C3193 UMLS:C0023801 EFO:1000728 SCTID:402693001" CHEBI:33893 "A substance used in a chemical reaction to detect, measure, examine, or produce other substances." http://identifiers.org/hgnc/5716 HP:0012447 "Any anomaly in the process by which myelin sheaths are formed and maintained around neurons." "UMLS:C1857704" CHR:9606-chr2p13 CL:0008009 "A visceral muscle that is transversely striated. Examples include the visceral muscle cells of arthropods." -MONDO:0012813 "A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34." "MESH:C567403 DOID:0110378 OMIM:612165 UMLS:C2677325 GARD:0010378 Orphanet:791 ICD10:H35.5" +MONDO:0012813 "A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34." "MESH:C567403 DOID:0110378 OMIM:612165 UMLS:C2677325 GARD:0010378 Orphanet:791" UBERON:0013772 MONDO:0021829 "MESH:C538059 UMLS:C2931718 GARD:0010125" MONDO:0003357 "An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells." "NCIT:C5667 UMLS:C1334448 DOID:5265" http://identifiers.org/hgnc/6913 -MONDO:0019018 "Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers." "UMLS:CN205479 Orphanet:66529 MESH:D054549 ICD9:429.83 EFO:1002000 GARD:0009400 ICD10:I42.8 NCIT:C85181 UMLS:C1739395 SCTID:441541008" +MONDO:0019018 "Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers." "UMLS:CN205479 Orphanet:66529 MESH:D054549 ICD9:429.83 ICD10CM:I42.8 EFO:1002000 GARD:0009400 NCIT:C85181 UMLS:C1739395 SCTID:441541008" HP:0001574 "An abnormality of the integument, which consists of the skin and the superficial fascia." "UMLS:C4025761" MONDO:0060591 "UMLS:C4540293 OMIM:617744" MONDO:0006017 MONDO:0032873 "OMIM:618697" -MONDO:0009482 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene." "OMIM:244200 Orphanet:478 ICD10:E23.0 UMLS:C3550478 GARD:0003073 DOID:0090092" +MONDO:0009482 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene." "OMIM:244200 Orphanet:478 UMLS:C3550478 GARD:0003073 DOID:0090092" NCIT:C37109 -MONDO:0018616 "Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals." "ICD9:362.41 UMLS:C0730328 Orphanet:443079 SCTID:312956001 ICD10:H35.7 GARD:0000200 MESH:D056833 NCIT:C115124" +MONDO:0018616 "Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals." "ICD9:362.41 UMLS:C0730328 SCTID:312956001 Orphanet:443079 GARD:0000200 ICD10CM:H35.7 MESH:D056833 NCIT:C115124" ENVO:00000111 "An area with a high density of trees. A small forest may be called a wood." UBERON:0003928 CHEBI:77746 "Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens)." -MONDO:0006000 "A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia." "EFO:0007529 SCTID:44572005 ICD9:014.01 MESH:D014395 DOID:9801 ICD10:A18.31 ICD9:014.0 ICD9:014.00 UMLS:C0041325" +MONDO:0006000 "A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia." "EFO:0007529 SCTID:44572005 ICD10CM:A18.31 ICD9:014.01 MESH:D014395 DOID:9801 ICD9:014.0 ICD9:014.00 UMLS:C0041325" GO:0010827 "Any process that modulates the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." MONDO:0043237 "Painful sensations in the tongue, including a sensation of burning." "MESH:D005926 SCTID:30731004 GARD:0006518" MONDO:0032877 "OMIM:618709" @@ -25252,29 +25235,29 @@ MONDO:0021627 "A capillary hemangioma arising from the eyelid." "NCIT:C4357 SCTI MONDO:0032876 "OMIM:618707" MONDO:0032610 "OMIM:618226" MONDO:0700012 "Chromosomal disorder in which chromosome 5 is affected." -MONDO:0012105 "A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis." "UMLS:C4050407 EFO:0005297 NCIT:C123111 Orphanet:900 OMIM:608710 SCTID:195353004 ICD10:M31.3 UMLS:C3495801 MedDRA:10047888 GARD:0007880 ICD10:M31.30 MESH:D014890 ICD9:446.4 DOID:12132" +MONDO:0012105 "A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis." "UMLS:C4050407 EFO:0005297 NCIT:C123111 Orphanet:900 OMIM:608710 SCTID:195353004 ICD10CM:M31.3 UMLS:C3495801 MedDRA:10047888 GARD:0007880 MESH:D014890 ICD9:446.4 DOID:12132" http://identifiers.org/hgnc/3573 GO:0005764 "A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions." CHR:9606-chr19p13.3 CHEBI:60242 "An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one." -MONDO:0006565 "Dermatitis herpetiformis in children" "ICD10:L12.2 ICD9:694.2 SCTID:5906000 UMLS:C0152092 DOID:8507 EFO:1000719" +MONDO:0006565 "Dermatitis herpetiformis in children" "ICD9:694.2 SCTID:5906000 UMLS:C0152092 DOID:8507 EFO:1000719" CHEBI:73263 "A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 3." UBERON:0003929 GO:0009126 "The chemical reactions and pathways involving purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar." -MONDO:0012859 "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene." "OMIM:612301 ICD10:Q78.2 Orphanet:178389 UMLS:C2676766 DOID:0110946 MESH:C567354 GARD:0010106" +MONDO:0012859 "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene." "OMIM:612301 Orphanet:178389 UMLS:C2676766 DOID:0110946 ICD10CM:Q78.2 MESH:C567354 GARD:0010106" http://identifiers.org/hgnc/2375 MONDO:0014486 "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene." "DOID:0070060 UMLS:C4015167 OMIM:616083 GARD:0013136" UBERON:0005225 -MONDO:0021465 "A benign neoplasm that involves the vermiform appendix." "UMLS:C0496860 NCIT:C4773 SCTID:91981009 ICD10:D12.1" +MONDO:0021465 "A benign neoplasm that involves the vermiform appendix." "UMLS:C0496860 NCIT:C4773 ICD10CM:D12.1 SCTID:91981009" http://identifiers.org/hgnc/7010 MONDO:0007004 "Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa." "MESH:D007105 EFO:1001222 MedDRA:10045265 NCIT:C114346 DOID:1557 UMLS:C0020951" MONDO:0007217 "GARD:0000963 MESH:C537090 Orphanet:93393 DOID:0110966 OMIM:112700 UMLS:C1862140" -MONDO:0013425 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene." "DOID:0110353 UMLS:C3151086 ICD10:H35.5 GARD:0010404 MESH:C566718 OMIM:613794 HGNC:10294" -MONDO:0003274 "A primary or metastatic malignant neoplasm affecting the tissues of the thorax." "DOID:5093 ICD10:C76.1 UMLS:C0039981 NCIT:C3576 UMLS:C0153661 SCTID:188361007 NCIT:C3406 SCTID:255058005 ICD9:195.1" +MONDO:0013425 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene." "DOID:0110353 UMLS:C3151086 GARD:0010404 MESH:C566718 OMIM:613794 HGNC:10294" +MONDO:0003274 "A primary or metastatic malignant neoplasm affecting the tissues of the thorax." "DOID:5093 UMLS:C0039981 NCIT:C3576 UMLS:C0153661 SCTID:188361007 NCIT:C3406 SCTID:255058005 ICD9:195.1" MONDO:0033856 "A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder." "Orphanet:521450" -MONDO:0001176 "A disease involving the lens of camera-type eye." "UMLS:C0023308 DOID:110 ICD9:379.39 NCIT:C26812 ICD10:H27.9 MESH:D007905 SCTID:10810001 ICD10:H25-H28" +MONDO:0001176 "A disease involving the lens of camera-type eye." "UMLS:C0023308 DOID:110 ICD10CM:H25-H28 ICD9:379.39 NCIT:C26812 MESH:D007905 SCTID:10810001" HP:0011029 "The presence of hemorrhage within the body." "UMLS:C1390214" -MONDO:0015342 "Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM)." "UMLS:C0270627 Orphanet:139417 ICD9:323.9 NCIT:C128378 ICD10:G37.3 MESH:D009188 SCTID:47000000 ICD9:341.20" +MONDO:0015342 "Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM)." "UMLS:C0270627 Orphanet:139417 ICD9:323.9 NCIT:C128378 MESH:D009188 SCTID:47000000 ICD10CM:G37.3 ICD9:341.20" MONDO:0002854 "A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma." "NCIT:C7731 DOID:4054 UMLS:C0238393" MONDO:0019160 "Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments." "Orphanet:75567 UMLS:C4275078 UMLS:CN205712 SCTID:715627004" GO:0003094 "The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein." @@ -25283,7 +25266,7 @@ MONDO:0060593 "OMIM:617749" MONDO:0003503 "A rare squamous cell carcinoma that arises from the fallopian tube." "UMLS:C1333596 DOID:5540 NCIT:C6282" MONDO:0008674 UBERON:0004027 -MONDO:0011107 "A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." "Orphanet:1573 ICD10:Q84.0 OMIM:601553 MESH:C537698 UMLS:C1832162 GARD:0003066 DOID:0110711" +MONDO:0011107 "A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." "Orphanet:1573 OMIM:601553 ICD10CM:Q84.0 MESH:C537698 UMLS:C1832162 GARD:0003066 DOID:0110711" NCBITaxon:29258 UBERON:0006682 MONDO:0023124 "GARD:0010455" @@ -25297,38 +25280,38 @@ UBERON:0003089 MONDO:0026722 "OMIM:301022" HP:0002226 "White color (lack of pigmentation) of the eyebrow." "UMLS:C4280579 UMLS:C4280580 UMLS:C1836737" MONDO:0008415 "OMIM:181515" -MONDO:0010400 "X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging." "OMIM:300695 ICD10:G71.0 GARD:0007608 Orphanet:431272 UMLS:C2678061" -MONDO:0018153 "Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement." "Orphanet:35687 UMLS:C0878675 ONCOTREE:ECD MESH:D031249 EFO:1000926 SCTID:699537002 DOID:4329 GARD:0006369 NCIT:C53972 ICD9:277.89 ICD10:D76.3 MedDRA:10060801" +MONDO:0010400 "X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging." "OMIM:300695 GARD:0007608 Orphanet:431272 ICD10CM:G71.0 UMLS:C2678061" +MONDO:0018153 "Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement." "Orphanet:35687 UMLS:C0878675 ONCOTREE:ECD MESH:D031249 ICD10CM:D76.3 EFO:1000926 SCTID:699537002 DOID:4329 GARD:0006369 NCIT:C53972 ICD9:277.89 MedDRA:10060801" MONDO:0032870 "OMIM:618687 DOID:0111674" -MONDO:0017308 "OBSOLETE. Hypothesized form of Marfan; dubious" "ICD10:Q87.4 OMIM:610168 UMLS:C2698016 Orphanet:284973 MESH:C535911 UMLS:C2931058 NCIT:C75007" +MONDO:0017308 "OBSOLETE. Hypothesized form of Marfan; dubious" "ICD10CM:Q87.4 OMIM:610168 UMLS:C2698016 Orphanet:284973 MESH:C535911 UMLS:C2931058 NCIT:C75007" ENVO:01001138 "Ice which is primarily composed of carbon dioxide." MONDO:0030475 "OMIM:619608" -MONDO:0005429 "A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal." "EFO:0004720 KEGG:05020 ICD9:046.19 NCIT:C128346 MESH:D017096 SCTID:230284004 OMIM:606688 DOID:649 ICD10:A81.9 OMIM:245300" +MONDO:0005429 "A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal." "EFO:0004720 KEGG:05020 ICD9:046.19 ICD10CM:A80-A89 NCIT:C128346 MESH:D017096 SCTID:230284004 OMIM:606688 DOID:649 OMIM:245300" http://identifiers.org/hgnc/9670 CHEBI:26766 UBERON:0003921 MONDO:0023129 "MESH:C537074 GARD:0002273 UMLS:C2931416" MONDO:0020629 "OMIMPS:210900" -MONDO:0003345 "A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." "MESH:D018285 ICD10:C24.0 DOID:4927 Orphanet:99978 DOID:5246 SCTID:253017000 GARD:0010175 NCIT:C36077 EFO:1001005 UMLS:C0206702" -MONDO:0016267 "Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported." "ICD10:C50 Orphanet:213721" +MONDO:0003345 "A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts." "MESH:D018285 DOID:4927 Orphanet:99978 DOID:5246 SCTID:253017000 GARD:0010175 NCIT:C36077 EFO:1001005 ICD10CM:C24.0 UMLS:C0206702" +MONDO:0016267 "Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported." "ICD10CM:C50 Orphanet:213721" UBERON:0003923 -MONDO:0002008 "Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication." "ICD9:386.30 UMLS:C0022893 ICD10:H83.0 SCTID:23919004 DOID:1468 ICD9:386.3 NCIT:C128369 DOID:3930 ICD10:H83.09 MESH:D007762" +MONDO:0002008 "Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication." "ICD9:386.30 UMLS:C0022893 ICD10CM:H83.0 SCTID:23919004 DOID:1468 ICD9:386.3 NCIT:C128369 DOID:3930 MESH:D007762" MONDO:0026721 "OMIM:301021" MONDO:0030476 "OMIM:619609" GO:0016705 "Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from each of two donors, and molecular oxygen is reduced or incorporated into a donor." UBERON:0003922 MONDO:0014499 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene." "UMLS:C4015283 OMIM:616116" http://identifiers.org/hgnc/16438 -MONDO:0002045 "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations." "SCTID:271569006 MESH:D006849 NCIT:C34501 ICD9:331.3 ICD10:G91.0 DOID:1573 UMLS:C0009451" +MONDO:0002045 "An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations." "SCTID:271569006 MESH:D006849 NCIT:C34501 ICD9:331.3 DOID:1573 UMLS:C0009451 ICD10CM:G91.0" CHR:9606-chr2p16 -MONDO:0020529 "Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC)." "Orphanet:99893 ICD10:E24.8 UMLS:CN207429" +MONDO:0020529 "Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC)." "Orphanet:99893 ICD10CM:E24.8 UMLS:CN207429" UBERON:0001529 UBERON:0003924 -MONDO:0009835 "Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex." "ICD9:046.2 MESH:D013344 NCIT:C85171 Orphanet:2806 GARD:0007708 ICD10:A81.1 EFO:0007502 OMIM:260470 UMLS:C0038522 DOID:8970" +MONDO:0009835 "Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex." "ICD9:046.2 MESH:D013344 NCIT:C85171 Orphanet:2806 GARD:0007708 ICD10CM:A81.1 EFO:0007502 OMIM:260470 UMLS:C0038522 DOID:8970" UBERON:0005486 -MONDO:0014247 "A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age." "NCIT:C125390 Orphanet:391392 UMLS:C3809899 Orphanet:391384 ICD10:M79.6 OMIM:615552" +MONDO:0014247 "A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age." "NCIT:C125390 Orphanet:391392 UMLS:C3809899 Orphanet:391384 OMIM:615552 ICD10CM:M79.6" MONDO:0026724 "OMIM:301025" -MONDO:0012536 "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene." "OMIM:610682 Orphanet:216812 Orphanet:216820 Orphanet:216804 UMLS:C1853162 GARD:0008701 ICD10:Q78.0 SCTID:254111008 DOID:0110337" +MONDO:0012536 "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene." "OMIM:610682 Orphanet:216812 Orphanet:216820 Orphanet:216804 UMLS:C1853162 ICD10CM:Q78.0 GARD:0008701 SCTID:254111008 DOID:0110337" MONDO:0003437 "A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." "DOID:5414 NCIT:C6683 UMLS:C1335099" GO:0060079 "A process that leads to a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential." MONDO:0032872 "OMIM:618695" @@ -25340,7 +25323,7 @@ MONDO:0008413 UBERON:0000328 UBERON:0004022 UBERON:0004288 -MONDO:0013730 "Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen." "ICD9:279.50 MESH:D006086 ICD10:T86.0 Orphanet:39812 SCTID:234646005 UMLS:C0018133 MedDRA:10018651 NCIT:C3063 OMIM:614395" +MONDO:0013730 "Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen." "ICD9:279.50 MESH:D006086 ICD10CM:T86.0 Orphanet:39812 SCTID:234646005 UMLS:C0018133 MedDRA:10018651 NCIT:C3063 OMIM:614395" MONDO:0010600 "Orphanet:379 OMIM:306400 OMIM:138990 UMLS:C1841825 MESH:C564210 DOID:0070195 DOID:0070190" MONDO:0014286 "Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene." "Orphanet:36386 DOID:0070154 OMIM:615632 UMLS:C3810194" http://identifiers.org/hgnc/2379 @@ -25353,7 +25336,7 @@ UBERON:0005487 CHEBI:33694 "A macromolecule formed by a living organism." UBERON:0005221 MONDO:0026723 "OMIM:301024" -MONDO:0004718 "DOID:9140 SCTID:55846006 ICD10:H01.14 UMLS:C0155179 ICD9:373.33" +MONDO:0004718 "DOID:9140 SCTID:55846006 UMLS:C0155179 ICD9:373.33" MONDO:0032871 "OMIM:618688" ENVO:02000105 "Dust which is derived from clay material." MONDO:0030474 "OMIM:619607" @@ -25361,47 +25344,46 @@ UBERON:0002726 UBERON:0010171 CHEBI:76731 "An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-NH group of donors (EC 1.5.*.*)." UBERON:0006686 -MONDO:0002280 "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability." "ICD9:285.9 DOID:2355 ICD10:D64.9 ICD9:285.8 NCIT:C2869 HP:0001903 EFO:0004272 MESH:D000740 SCTID:271737000" -MONDO:0007395 "Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features." "ICD10:Q87.0 GARD:0001571 MESH:C536453 SCTID:702362004 ICD9:759.89 Orphanet:1529 DOID:0111336 OMIM:122880" +MONDO:0002280 "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability." "ICD9:285.9 DOID:2355 ICD10CM:D50-D53 ICD9:285.8 NCIT:C2869 HP:0001903 EFO:0004272 MESH:D000740 SCTID:271737000" +MONDO:0007395 "Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features." "GARD:0001571 MESH:C536453 SCTID:702362004 ICD9:759.89 Orphanet:1529 DOID:0111336 ICD10CM:Q87.0 OMIM:122880" MONDO:0012503 "An acquired metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity." "Orphanet:3315 OMIM:610460 MESH:C536512 NCIT:C4389 DOID:0080172 GARD:0005173 SCTID:238012003" UBERON:0018408 NCBITaxon:6334 "GC_ID:1" MONDO:0006060 "A squamous cell carcinoma that arises from the nasopharynx." "EFO:1000058" MONDO:0006739 "A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." "DOID:5050 UMLS:C0007125 MESH:D002286 EFO:1000913" UBERON:0001789 -MONDO:0024581 http://identifiers.org/hgnc/16691 -MONDO:0013987 "Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported." "UMLS:C3554182 SCTID:763203009 OMIM:614947 ICD10:G31.8 Orphanet:319524 DOID:0111491" +MONDO:0013987 "Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported." "UMLS:C3554182 SCTID:763203009 OMIM:614947 ICD10CM:G31.8 Orphanet:319524 DOID:0111491" UBERON:0000325 MONDO:0021064 "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear." "ICDO:8690/1 UMLS:C0017671 GARD:0010599 ICD9:239.7 NCIT:C3061 SCTID:127030001" -MONDO:0000948 "Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma." "UMLS:C0043349 SCTID:46152009 NCIT:C34503 SCTID:363677007 UMLS:C3665609 DOID:10138 ICD9:375.15 MESH:D014985 ICD10:H04.12 ICD10:E50.7" +MONDO:0000948 "Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma." "UMLS:C0043349 SCTID:46152009 NCIT:C34503 SCTID:363677007 UMLS:C3665609 DOID:10138 ICD9:375.15 MESH:D014985" GO:0042446 "The chemical reactions and pathways resulting in the formation of any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone." GO:0007600 "The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process." -MONDO:0005774 "A condition resulting from infection by Burkholderia mallei, which mainly affects horses." "GARD:0009536 DOID:13444 EFO:0007286 SCTID:4639008 ICD10:A24.0 MESH:D005896 ICD9:024 NCIT:C34638 UMLS:C0017589" +MONDO:0005774 "A condition resulting from infection by Burkholderia mallei, which mainly affects horses." "GARD:0009536 DOID:13444 EFO:0007286 ICD10CM:A24.0 SCTID:4639008 MESH:D005896 ICD9:024 NCIT:C34638 UMLS:C0017589" MONDO:0030471 "OMIM:619603" GO:0050769 "Any process that activates or increases the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system." UBERON:0000326 NCBITaxon:1437201 "GC_ID:1" NCBITaxon:446 "PMID:434652 GC_ID:11" UBERON:0010172 -MONDO:0019426 "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive." "Orphanet:85330 GARD:0012489 UMLS:CN206182 ICD10:Q87.8" +MONDO:0019426 "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive." "Orphanet:85330 GARD:0012489 UMLS:CN206182 ICD10CM:Q87.8" UBERON:0001788 MONDO:0000184 CHEBI:6495 "A clathrate complex consisting of a lipid enwrapped in a protein host without covalent binding in such a way that the complex has a hydrophilic outer surface consisting of all the protein and the polar ends of any phospholipids." MONDO:0023258 "Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene." "UMLS:C2931345 GARD:0002501 MESH:C536831 HGNC:4061" MONDO:0008419 "OMIM:181800" MONDO:0020625 "OMIM:112050" -MONDO:0019600 "Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV)." "OMIM:278780 OMIM:194400 MESH:D014983 OMIM:278730 SCTID:44600005 OMIM:278700 DOID:0050427 GARD:0007910 MedDRA:10048220 NCIT:C3452 OMIM:278720 OMIM:278740 ICD10:Q82.1 Orphanet:910 OMIM:610651 UMLS:C0043346 OMIM:278760" +MONDO:0019600 "Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV)." "OMIM:278780 OMIM:194400 MESH:D014983 OMIM:278730 SCTID:44600005 OMIM:278700 DOID:0050427 GARD:0007910 MedDRA:10048220 NCIT:C3452 OMIM:278720 ICD10CM:Q82.1 OMIM:278740 Orphanet:910 OMIM:610651 UMLS:C0043346 OMIM:278760" http://identifiers.org/hgnc/11536 http://identifiers.org/hgnc/20188 NCBITaxon:6333 "GC_ID:1" -MONDO:0016484 "A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa." "OMIM:276901 OMIM:605472 ICD10:H35.5 SCTID:232058008 Orphanet:231178 OMIM:611383 UMLS:C0339534 DOID:0110827 NCIT:C126328" +MONDO:0016484 "A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa." "ICD10CM:H35.5 OMIM:276901 OMIM:605472 SCTID:232058008 Orphanet:231178 OMIM:611383 UMLS:C0339534 DOID:0110827 NCIT:C126328" http://identifiers.org/hgnc/16692 UBERON:0003084 MONDO:0017323 "Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR)." "Orphanet:289103 UMLS:C4302195 UMLS:C4329608 SCTID:722947004 NCIT:C131421" FOODON:03401270 "Food and Drugs, title 21, Code of Federal Regulations. Original food classification in LanguaL."@en "http://www.langual.org/langual_thesaurus.asp?termid=A1270" GO:0009582 "The series of events in which an (non-living) abiotic stimulus is received by a cell and converted into a molecular signal." -MONDO:0017240 "OMIM:614613 OMIM:101800 ICD10:Q75.4 UMLS:CN202748 Orphanet:280651" +MONDO:0017240 "OMIM:614613 ICD10CM:Q75.4 OMIM:101800 UMLS:CN202748 Orphanet:280651" ENVO:01000276 "A large unit of land or water containing a geographically distinct assemblage of species, natural communities, and environmental conditions." MONDO:0000553 "A endometrial carcinoma (disease) that involves the body of uterus." "DOID:0050939" MONDO:0043280 "A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness." "GARD:0007875 MESH:D014855 NCIT:C85223" @@ -25419,7 +25401,7 @@ MONDO:0020626 "OMIM:112100" GO:0040007 "The increase in size or mass of an entire organism, a part of an organism or a cell." http://identifiers.org/hgnc/11535 NCBITaxon:6332 "GC_ID:1" -MONDO:0005441 "Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever." "MESH:D010033 UMLS:C0029882 SCTID:65363002 ICD10:H66.90 DOID:10754 HP:0000388 ICD10:H66.9 ICD9:382.9 EFO:0004992 NCIT:C34885" +MONDO:0005441 "Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever." "MESH:D010033 UMLS:C0029882 SCTID:65363002 DOID:10754 HP:0000388 ICD9:382.9 EFO:0004992 NCIT:C34885" MONDO:0007222 "A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1." "Orphanet:93385 OMIM:113200 DOID:0110971 MESH:C562420" CHEBI:37622 "An amide of a carboxylic acid, having the structure RC(=O)NR2. The term is used as a suffix in systematic name formation to denote the -C(=O)NH2 group including its carbon atom." UBERON:0002722 @@ -25430,14 +25412,14 @@ HP:0003272 "An abnormality of the hip bone." "UMLS:C4021735" http://identifiers.org/hgnc/9414 GO:0018904 "The chemical reactions and pathways involving organic ethers, any anhydride of the general formula R1-O-R2, formed between two identical or nonidentical organic hydroxy compounds." MONDO:0000687 "An alopecia areata that involves diffuse loss of hair over the whole scalp." "SCTID:46586006 MESH:C531609 DOID:0060157" -MONDO:0008142 "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." "UMLS:C0264081 ICD9:716.84 Orphanet:3314 SCTID:55166000 OMIM:165700 MESH:C537144 ICD10:M93.2 GARD:0004131" +MONDO:0008142 "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." "UMLS:C0264081 ICD10CM:M93.2 ICD9:716.84 Orphanet:3314 SCTID:55166000 OMIM:165700 MESH:C537144 GARD:0004131" MONDO:0020627 "OMIMPS:617711" MONDO:0006862 "Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome." "DOID:431 MedDRA:10048780 UMLS:C0027073 ICD9:729.1 MESH:D009209 EFO:1001054 SCTID:24693007" http://identifiers.org/hgnc/427 MONDO:0008417 "Orphanet:91490 MESH:C566692 OMIM:181700" GO:0030001 "The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." -MONDO:0011760 "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." "UMLS:C0026708 NCIT:C61265 Orphanet:93474 OMIM:607016 Orphanet:579 GARD:0012561 DOID:0060222 ICD10:E76.0" -MONDO:0002243 "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders)." "ICD10:D69.9 NCIT:C115221 MESH:D006474 DOID:2213 ICD9:287.9" +MONDO:0011760 "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development." "UMLS:C0026708 NCIT:C61265 Orphanet:93474 OMIM:607016 Orphanet:579 ICD10CM:E76.0 GARD:0012561 DOID:0060222" +MONDO:0002243 "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders)." "NCIT:C115221 MESH:D006474 DOID:2213 ICD10CM:D65-D69 ICD9:287.9" HP:0012700 "A functional anomaly of the large intestine." "UMLS:C4022766" GO:0099111 "A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules." MONDO:0011598 "An atopic dermatitis associated with variation in the region 17q25.3." "MESH:C565291 DOID:0110100 UMLS:C1853963 OMIM:605805" @@ -25445,25 +25427,25 @@ UBERON:0005483 UBERON:0003086 PO:0025496 "A plant structure (PO:0009011) that has as parts two or more portions of plant tissue (PO:0009007) of at least two different types and which through specific morphogenetic processes forms a single structural unit demarcated by primarily bona-fide boundaries from other structural units of different types." "PO_GIT:480" MONDO:0000181 "OMIMPS:251270" -MONDO:0009928 "Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner." "MedDRA:10037315 ICD10:J84.0 UMLS:C0155912 DOID:12117 SCTID:87153008 ICD10:J84.02 GARD:0011894 ICD9:516.2 OMIM:265100 MESH:C562405 Orphanet:60025" +MONDO:0009928 "Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner." "MedDRA:10037315 UMLS:C0155912 ICD10CM:J84.02 DOID:12117 SCTID:87153008 GARD:0011894 ICD9:516.2 OMIM:265100 MESH:C562405 ICD10CM:J84.0 Orphanet:60025" MONDO:0020628 "OMIM:618097 Orphanet:508512" UBERON:0003920 MONDO:0043789 "Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction." "UMLS:C0036830 MESH:D012713 NCIT:C79718 SCTID:72284000 EFO:1001845" MONDO:0044789 "An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs." "NCIT:C27534" -MONDO:0008416 "MESH:C537526 ICD9:757.39 ICD10:Q82.8 SCTID:239076000 OMIM:181600 Orphanet:384 GARD:0008517" +MONDO:0008416 "MESH:C537526 ICD9:757.39 SCTID:239076000 ICD10CM:Q82.8 OMIM:181600 Orphanet:384 GARD:0008517" ENVO:01001199 "An environmental zone which is bounded by material parts of a land mass or the atmosphere or space adjacent to it." MONDO:0002519 "A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma." "UMLS:C0016167 DOID:3128 UMLS:C0003462 MESH:D001004 NCIT:C26695 SCTID:32110003 UMLS:C1301262" MONDO:0001818 "Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions." "MESH:D005156 DOID:13865 ICD9:351.8 SCTID:4151000119102" FOODON:03411335 "Crabs are decapod crustaceans of the infraorder *Brachyura*, which typically have a very short projecting \"tail\", usually entirely hidden under the thorax. They live in all the world's oceans, in fresh water, and on land, are generally covered with a thick exoskeleton and have a single pair of claws. Many other animals with similar names - such as hermit crabs, king crabs, porcelain crabs, horseshoe crabs, and crab lice - are not true crabs. \n Crabs are generally covered with a thick exoskeleton, composed primarily of highly mineralized chitin, and armed with a single pair of chelae (claws). Crabs are found in all of the world's oceans, while many crabs live in fresh water and on land, particularly in tropical regions. [https://en.wikipedia.org/wiki/Crab]"@en MONDO:0020620 "OMIM:111740" MONDO:0005398 "Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" "SCTID:439361000 ICD9:239.89 EFO:0004284" -MONDO:0010064 "Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia." "GARD:0003795 OMIM:271320 MESH:C536989 Orphanet:2572 SCTID:715465001 UMLS:C1849085 ICD10:G11.8" +MONDO:0010064 "Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia." "GARD:0003795 OMIM:271320 MESH:C536989 Orphanet:2572 SCTID:715465001 UMLS:C1849085 ICD10CM:G11.8" CL:2000062 "Any capillary endothelial cell that is part of a placenta." http://identifiers.org/hgnc/17893 UBERON:0011374 GO:1903795 "Any process that modulates the frequency, rate or extent of inorganic anion transmembrane transport." http://identifiers.org/hgnc/9678 -MONDO:0014077 "Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures." "UMLS:C3554657 Orphanet:352682 ICD10:Q04.3 OMIM:615191" +MONDO:0014077 "Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures." "UMLS:C3554657 ICD10CM:Q04.3 Orphanet:352682 OMIM:615191" CHR:9606-chr8q12 MONDO:0023121 "GARD:0008607 UMLS:CN035928 MEDGEN:447610 GTR:AN0100894" MONDO:0022799 "Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications." "SCTID:74774004 GARD:0006131 EFO:1001881 UMLS:C0221207" @@ -25473,14 +25455,14 @@ http://identifiers.org/hgnc/16695 UBERON:0003081 MONDO:0060596 "OMIM:617755 UMLS:C4540327 Orphanet:528084" MONDO:0000180 -MONDO:0016011 "Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention)." "DOID:0050665 MedDRA:10016845 ICD10:Q86.0 DOID:0050667 Orphanet:1915 SCTID:205788004 UMLS:C0015923 NCIT:C84713" -MONDO:0017300 "Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst)." "ICD10:Q24.8 Orphanet:2846 ICD9:746.89 SCTID:93018000" +MONDO:0016011 "Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention)." "DOID:0050665 MedDRA:10016845 DOID:0050667 Orphanet:1915 SCTID:205788004 UMLS:C0015923 NCIT:C84713" +MONDO:0017300 "Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst)." "Orphanet:2846 ICD9:746.89 SCTID:93018000 ICD10CM:Q24.8" MONDO:0015207 "A esophageal malformation that is not part of a larger syndrome." "Orphanet:108959" GO:0006878 "Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell." CL:0002482 "A melanocyte that produces pigment in the dermis." -MONDO:0020306 "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones." "ICD10:Q87.2 MESH:C535564 GARD:0008309 OMIM:188740 UMLS:C1861099 DOID:0111564 Orphanet:988" +MONDO:0020306 "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones." "MESH:C535564 GARD:0008309 ICD10CM:Q87.2 OMIM:188740 UMLS:C1861099 DOID:0111564 Orphanet:988" GO:0060610 "The process in which a relatively unspecialized cell acquires specialized features of a mammary gland mesenchymal cell. Mammary gland mesenchymal cells form a loosely connected network of cells that surround the mammary ducts." -MONDO:0013788 "Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene." "Orphanet:231183 DOID:0110842 Orphanet:886 OMIM:614504 ICD10:H35.5 UMLS:C3281066" +MONDO:0013788 "Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene." "Orphanet:231183 DOID:0110842 Orphanet:886 OMIM:614504 UMLS:C3281066" http://identifiers.org/hgnc/9679 CHR:9606-chr12p12.1 MONDO:0020621 "OMIM:111750" @@ -25490,7 +25472,7 @@ GO:0002465 "Tolerance induction in the peripheral lymphoid tissues: blood, lymph UBERON:0011375 MONDO:0016169 "Chronic form of acquired peripheral neuropathy." "Orphanet:208974" MONDO:0003466 "A synovial sarcoma characterized by the presence of a spindle cell component only." "NCIT:C4277 ICDO:9041/3 DOID:5487 UMLS:C0334505" -MONDO:0012967 "Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment." "MESH:C567228 UMLS:C2675459 SCTID:766982000 Orphanet:86817 OMIM:612631 ICD10:D55.3" +MONDO:0012967 "Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment." "MESH:C567228 UMLS:C2675459 SCTID:766982000 Orphanet:86817 OMIM:612631 ICD10CM:D55.3" http://identifiers.org/hgnc/9413 GO:0033047 "Any process that modulates the frequency, rate or extent of sister chromatid segregation during mitosis." NCBITaxon:42230 "GC_ID:1" @@ -25499,7 +25481,7 @@ MONDO:0006328 "A cyst in the jaw that arises from tissues of tooth development." UBERON:0001783 http://identifiers.org/hgnc/1171 MONDO:0031446 "A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." "MESH:C564336 Orphanet:238475 OMIM:607748 SCTID:723360007 UMLS:C1843139" -MONDO:0007839 "Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures." "SCTID:718576001 UMLS:C0220686 ICD10:Q87.8 MESH:C535332 Orphanet:916 MedDRA:10063429 GARD:0005642 OMIM:147800" +MONDO:0007839 "Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures." "SCTID:718576001 UMLS:C0220686 MESH:C535332 Orphanet:916 MedDRA:10063429 ICD10CM:Q87.8 GARD:0005642 OMIM:147800" MONDO:0020950 "Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus." "MESH:D015828 UMLS:C0015407 SCTID:312132001" MONDO:0020622 "OMIM:111800" http://identifiers.org/hgnc/2372 @@ -25512,13 +25494,13 @@ GO:0031503 "A localization process that acts on a protein complex; the complex i http://identifiers.org/hgnc/12736 MONDO:0005562 "Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males." "EFO:0005782" NCBITaxon:444 "PMID:434652 GC_ID:11" -MONDO:0007226 "Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients." "MESH:C566192 ICD9:759.89 ICD10:Q87.8 SCTID:205828009 Orphanet:1246 GARD:0000881 GARD:0000971 OMIM:113400" +MONDO:0007226 "Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients." "MESH:C566192 ICD10CM:Q87.8 ICD9:759.89 SCTID:205828009 Orphanet:1246 GARD:0000881 GARD:0000971 OMIM:113400" GO:0019814 "A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph." -MONDO:0005328 "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma." "ICD9:360.9 SCTID:371409005 ICD10:H44 DOID:5614 NCIT:C26767 ICD9:360 ICD9:379.8 MESH:D005128 ICD10:H44.9 UMLS:C0015397 EFO:0003966 SCTID:371405004 ICD9:379.90 ICD9:360.89" +MONDO:0005328 "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma." "ICD9:360.9 SCTID:371409005 DOID:5614 NCIT:C26767 ICD9:360 ICD10CM:H55-H57 ICD9:379.8 ICD10CM:H00-H59 MESH:D005128 UMLS:C0015397 EFO:0003966 SCTID:371405004 ICD9:379.90 ICD9:360.89" MONDO:0020623 "OMIM:112000" GO:0003824 "Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic." MONDO:0023282 "Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma." "GARD:0006547" -MONDO:0010714 "Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD." "DOID:3210 UMLS:C0205711 OMIM:312080 Orphanet:702 OMIM:213900 ICD10:E75.2 MESH:D020371 SCTID:64855000 GARD:0004265 MedDRA:10067610 NCIT:C75487" +MONDO:0010714 "Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD." "DOID:3210 UMLS:C0205711 OMIM:312080 Orphanet:702 OMIM:213900 ICD10CM:E75.2 MESH:D020371 SCTID:64855000 GARD:0004265 MedDRA:10067610 NCIT:C75487" http://identifiers.org/hgnc/11538 MONDO:0006890 "A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent." "MedDRA:10033940 UMLS:C0262587 NCIT:C3916 DOID:7608 HP:0002897 EFO:1001087 SCTID:128474007" UBERON:0011111 @@ -25530,42 +25512,42 @@ GO:0098656 "The process in which an anion is transported across a membrane." HsapDv:0000089 "Early adulthood that refers to an adult who is under 25." UBERON:0001785 HP:0010917 "Any deviation from the normal concentration of tyrosine in the blood circulation." "UMLS:C4023653" -MONDO:0001195 "A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia." "ICD10:A77.1 ICD10:A77.3 Orphanet:102022 ICD9:082.0 GARD:0004998 UMLS:C0038041 ICD10:A77.0 ICD10:A77 DOID:11104 ICD10:A77.9 SCTID:186771002 ICD9:083.8 ICD10:A77.2 MEDGEN:11567 ICD10:A77.8" +MONDO:0001195 "A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia." "Orphanet:102022 ICD9:082.0 ICD10CM:A77.8 GARD:0004998 UMLS:C0038041 ICD10CM:A77.1 ICD10CM:A77.3 ICD10CM:A77.9 DOID:11104 SCTID:186771002 ICD9:083.8 ICD10CM:A77 MEDGEN:11567 ICD10CM:A77.0 ICD10CM:A77.2" MONDO:0020624 "OMIM:112010" MONDO:0004305 "A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm." "NCIT:C27393 UMLS:C1335351 DOID:7611" UBERON:0008819 CHEBI:36359 MONDO:0014556 "UMLS:C4225398 OMIM:616266 EFO:1001868" -MONDO:0018445 "UMLS:CN226190 ICD10:Q87.3 Orphanet:404476" +MONDO:0018445 "UMLS:CN226190 ICD10CM:Q87.3 Orphanet:404476" http://identifiers.org/hgnc/11795 MONDO:0001731 "A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements." "NCIT:C40275 DOID:135 UMLS:C1511106" UBERON:0011112 -MONDO:0018513 "A squamous cell carcinoma that involves the colon." "ICD10:C18.0 ICD10:C18.2 ICD10:C18.7 ICD10:C18.3 ICD10:C18.4 NCIT:C5490 UMLS:CN237518 ICD10:C18.8 ICD10:C18.5 ICD10:C18.6 UMLS:C1333100 Orphanet:423994 SCTID:766981007 ICD10:C18.9 DOID:5519" +MONDO:0018513 "A squamous cell carcinoma that involves the colon." "UMLS:C1333100 DOID:5519 SCTID:766981007 UMLS:CN237518 NCIT:C5490 Orphanet:423994" MONDO:0100026 "This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen." MONDO:0100106 "OBSOLETE. A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death." MONDO:0002575 http://identifiers.org/hgnc/10597 -MONDO:0015372 "This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." "UMLS:CN199474 Orphanet:140957 SCTID:720521008 OMIM:187800 ICD10:D69.4 OMIM:615193 UMLS:C4304021 OMIM:613112" +MONDO:0015372 "This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." "UMLS:CN199474 ICD10CM:D69.4 Orphanet:140957 SCTID:720521008 OMIM:187800 OMIM:615193 UMLS:C4304021 OMIM:613112" UBERON:0001780 -MONDO:0017247 "Orphanet:280821 ICD10:Q33.2" -MONDO:0019265 "Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." "ICD10:E16.1 Orphanet:79298" +MONDO:0017247 "Orphanet:280821 ICD10CM:Q33.2" +MONDO:0019265 "Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion." "ICD10CM:E16.1 Orphanet:79298" MONDO:0019502 "Autosomal recessive form of non-syndromic intellectual disability." "OMIM:617125 OMIM:611092 OMIM:611091 OMIM:611096 OMIM:615637 OMIM:611095 OMIM:249500 OMIM:614333 OMIM:614345 OMIM:614344 OMIM:607417 OMIM:614499 OMIMPS:249500 OMIM:616887 DOID:0060308 OMIM:616739 OMIM:615802 OMIM:617028 OMIM:611107 OMIM:614346 OMIM:616193 OMIM:614208 OMIM:614202 OMIM:615493 OMIM:611093 OMIM:611097 OMIM:613192 OMIM:615979 OMIM:616459 OMIM:614020 OMIM:614249 OMIM:615942 OMIM:614329 OMIM:614341 OMIM:614340 OMIM:616460 UMLS:CN206293 OMIM:614343 OMIM:615817 OMIM:608443 OMIM:616116 OMIM:611090 OMIM:615516 OMIM:615541 OMIM:615599 OMIM:614342 Orphanet:88616 OMIM:614347 OMIM:617188" MONDO:0020656 "A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma." "NCIT:C27682" -MONDO:0007127 "This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms." "MESH:D004057 EFO:0007236 UMLS:C0020498 ICD9:721.6 NCIT:C84671 Orphanet:2206 ICD10:M48.1 DOID:6652 SCTID:31487001 GARD:0000842 OMIM:106400 ICD9:733.99" -MONDO:0001377 "SCTID:60189009 ICD9:379.21 ICD10:H43.81 DOID:11816 UMLS:C0155366" +MONDO:0007127 "This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms." "MESH:D004057 EFO:0007236 UMLS:C0020498 ICD9:721.6 ICD10CM:M48.1 NCIT:C84671 Orphanet:2206 DOID:6652 SCTID:31487001 GARD:0000842 OMIM:106400 ICD9:733.99" +MONDO:0001377 "SCTID:60189009 ICD9:379.21 DOID:11816 UMLS:C0155366" MONDO:0002797 "A medulloblastoma occurring in children." "NCIT:C3997 UMLS:C0278510 MESH:D008527 GARD:0009350 DOID:3869" CL:0000451 "A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative)." "FMA:83036 BTO:0002042 CALOHA:TS-0194" -MONDO:0018736 "A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells." "ICD10:D18.1 Orphanet:464329" +MONDO:0018736 "A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells." "ICD10CM:D18.1 Orphanet:464329" NCBITaxon:694013 "GC_ID:1" GO:0065003 "The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex." -MONDO:0018446 "UMLS:CN226191 Orphanet:404481 ICD10:G11.1" +MONDO:0018446 "UMLS:CN226191 Orphanet:404481 ICD10CM:G11.1" MONDO:0008249 "A hair-containing cyst or sinus, occurring chiefly in the coccygeal region." "SCTID:47639008 HP:0010769 OMIM:173000 MESH:D010864" -MONDO:0012885 "SRD5A3-CDG is a rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation." "SCTID:733601006 ICD10:E77.8 DOID:0080568 UMLS:C4317224 UMLS:C3150191 OMIM:612379 Orphanet:324737 GARD:0012397" +MONDO:0012885 "SRD5A3-CDG is a rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation." "SCTID:733601006 DOID:0080568 UMLS:C4317224 UMLS:C3150191 ICD10CM:E77.8 OMIM:612379 Orphanet:324737 GARD:0012397" MONDO:0002146 "A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation." "OMIM:241100 ICD9:253.4 SCTID:48130008 OMIM:307300 DOID:1924 NCIT:C9227 MESH:D007006 UMLS:C0020619" MONDO:0003299 "A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "UMLS:C1333113 NCIT:C5677 DOID:5143" GO:0061041 "Any process that modulates the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury." MONDO:0001111 -MONDO:0009859 "Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." "UMLS:C1849928 SCTID:723453002 Orphanet:2876 MESH:C538357 ICD10:Q87.8 GARD:0004465 OMIM:261575" +MONDO:0009859 "Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." "UMLS:C1849928 SCTID:723453002 ICD10CM:Q87.8 Orphanet:2876 MESH:C538357 GARD:0004465 OMIM:261575" UBERON:0011379 GO:0000229 "A chromosome found in the cytoplasm." MONDO:0013693 "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene." "OMIM:614328 UMLS:C3280501 Orphanet:294023" @@ -25573,61 +25555,61 @@ http://identifiers.org/hgnc/10596 MONDO:0002505 "An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location." "NCIT:C9022 UMLS:C1321865 DOID:3079" MONDO:0003425 "Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis." "SCTID:78097002 NCIT:C79697 DOID:539 MESH:D009886 ICD9:378.56" GO:0051954 "Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." -MONDO:0014717 "Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades." "DOID:0111445 ICD10:G40.3 SCTID:733082001 OMIM:616640 Orphanet:324290 UMLS:C4518574 UMLS:C4225258" -MONDO:0017416 "Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing." "MESH:D016262 GARD:0004454 EFO:0007454 DOID:4952 ICD10:G14 UMLS:C0080040 Orphanet:2942 SCTID:31097004" +MONDO:0014717 "Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades." "ICD10CM:G40.3 DOID:0111445 SCTID:733082001 OMIM:616640 Orphanet:324290 UMLS:C4518574 UMLS:C4225258" +MONDO:0017416 "Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing." "MESH:D016262 GARD:0004454 EFO:0007454 DOID:4952 UMLS:C0080040 ICD10CM:G10-G14 Orphanet:2942 SCTID:31097004" FOODON:03303918 "Breast milk is the milk produced by the breasts (or mammary glands) of a human female to feed a child."@en "SUBSET_SIREN:F3918" -MONDO:0017248 "Orphanet:280827 ICD10:Q33.0" -MONDO:0009495 "Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism." "OMIM:245150 UMLS:C1855607 Orphanet:85202 GARD:0008449 MESH:C536167 SCTID:724208006 ICD10:Q87.8" -MONDO:0005794 "Virus diseases caused by the herpesviridae." "MESH:D006566 EFO:0007309 SCTID:23513009" -MONDO:0002310 "DOID:2460 SCTID:37283009 UMLS:C0155372 ICD9:379.33 ICD10:H27.12" -MONDO:0004981 "A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)" "UMLS:C0004238 OMIM:611819 ICD9:427.31 NCIT:C50466 DOID:0060224 SCTID:49436004 OMIM:615770 HP:0005110 EFO:0000275 OMIM:613120 ICD10:I48" -MONDO:0011392 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter." "DOID:0110478 OMIM:604060 MESH:C565828 UMLS:C1858840 ICD10:H90.3" +MONDO:0017248 "ICD10CM:Q33.0 Orphanet:280827" +MONDO:0009495 "Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism." "OMIM:245150 UMLS:C1855607 Orphanet:85202 GARD:0008449 MESH:C536167 SCTID:724208006 ICD10CM:Q87.8" +MONDO:0005794 "Virus diseases caused by the herpesviridae." "MESH:D006566 EFO:0007309 SCTID:23513009 ICD10CM:B10-B10" +MONDO:0002310 "DOID:2460 SCTID:37283009 UMLS:C0155372 ICD9:379.33" +MONDO:0004981 "A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)" "UMLS:C0004238 ICD9:427.31 NCIT:C50466 DOID:0060224 SCTID:49436004 OMIM:615770 HP:0005110 EFO:0000275" +MONDO:0011392 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter." "DOID:0110478 OMIM:604060 MESH:C565828 UMLS:C1858840" UBERON:0014719 MONDO:0020630 "OMIM:617711 DOID:0080472" -MONDO:0001376 "UMLS:C0153611 ICD9:188.3 DOID:11814 ICD10:C67.3 SCTID:188242006" -MONDO:0018443 "UMLS:CN226185 ICD10:Q87.8 Orphanet:404451" -MONDO:0010612 "This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported." "ICD10:Q04.3 MESH:C564407 GARD:0001200 Orphanet:1397 OMIM:307010 UMLS:C1844005" +MONDO:0001376 "UMLS:C0153611 ICD9:188.3 DOID:11814 SCTID:188242006" +MONDO:0018443 "UMLS:CN226185 ICD10CM:Q87.8 Orphanet:404451" +MONDO:0010612 "This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported." "MESH:C564407 GARD:0001200 Orphanet:1397 OMIM:307010 ICD10CM:Q04.3 UMLS:C1844005" ENVO:09000015 "The amount of a nitrogen atom when measured in water." MONDO:0014558 "DOID:0070062 Orphanet:457193 OMIM:616268" -MONDO:0003252 "An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity." "DOID:5042 UMLS:C0334618 NCIT:C4336 ICDO:9580/3 ICD9:171.9 SCTID:404041003" -MONDO:0006882 "Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation." "MedDRA:10031064 MESH:D009920 DOID:2518 HP:0100796 NCIT:C97145 ICD10:N45.2 UMLS:C0029191 SCTID:274718005 EFO:1001078" -MONDO:0010716 "X-linked form of lethal multiple pterygium syndrome." "SCTID:763462004 ICD10:Q79.8 UMLS:C1839440 OMIM:312150 Orphanet:79447 GARD:0004573 MESH:C564072" +MONDO:0003252 "An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity." "UMLS:C0334618 DOID:5042 NCIT:C4336 ICDO:9580/3 ICD9:171.9 SCTID:404041003" +MONDO:0006882 "Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation." "ICD10CM:N45.2 MedDRA:10031064 MESH:D009920 DOID:2518 HP:0100796 NCIT:C97145 UMLS:C0029191 SCTID:274718005 EFO:1001078" +MONDO:0010716 "X-linked form of lethal multiple pterygium syndrome." "SCTID:763462004 UMLS:C1839440 OMIM:312150 Orphanet:79447 GARD:0004573 MESH:C564072 ICD10CM:Q79.8" GO:0001523 "The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity." -MONDO:0007540 "Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients." "GARD:0003829 SCTID:30664006 ICD10:D44.8 NCIT:C3225 UMLS:C0025267 ICD9:237.4 ICD10:E31.21 OMIM:131100 ICD9:258.01 DOID:10017 MESH:D018761 MedDRA:10028190 Orphanet:652" +MONDO:0007540 "Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients." "GARD:0003829 SCTID:30664006 NCIT:C3225 UMLS:C0025267 ICD9:237.4 OMIM:131100 ICD9:258.01 DOID:10017 MESH:D018761 MedDRA:10028190 ICD10CM:D44.8 Orphanet:652" MONDO:0000178 MONDO:0020585 "Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis." "UMLS:C4329304 NCIT:C131630" UBERON:0015917 MONDO:0008277 "A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps)." "NCIT:C3954 MESH:C562464 SCTID:87252009" -MONDO:0017245 "Orphanet:280802 ICD10:Q33.2" +MONDO:0017245 "ICD10CM:Q33.2 Orphanet:280802" http://identifiers.org/hgnc/685 MONDO:0018758 "Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities." "UMLS:CN242171 Orphanet:466729 OMIM:607411 OMIM:617035 OMIM:617039" -MONDO:0002069 "A cancer that involves the UBERON:0035289." "DOID:1650 UMLS:C0153554 ICD10:C50.61 SCTID:188156001 ICD10:C50.6 ICD9:174.6" +MONDO:0002069 "A cancer that involves the UBERON:0035289." "DOID:1650 UMLS:C0153554 SCTID:188156001 ICD9:174.6 ICD10CM:C50.6" http://identifiers.org/hgnc/21390 MONDO:0024973 "A cattle disease of uncertain cause, probably an allergic reaction." "MESH:D011016" PATO:0002198 "A quality inhering in a bearer by virtue of its constitution." MONDO:0002573 -MONDO:0011413 "Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene." "Orphanet:98991 DOID:0110266 OMIM:604219 UMLS:C1858679 Orphanet:98995 Orphanet:1377 ICD10:Q12.0 Orphanet:91492" +MONDO:0011413 "Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene." "Orphanet:98991 DOID:0110266 OMIM:604219 UMLS:C1858679 Orphanet:98995 Orphanet:1377 Orphanet:91492" UBERON:0001782 MONDO:0020028 "OBSOLETE. Rare respiratory allergy." "Orphanet:98052 UMLS:C1504369" -MONDO:0700092 "A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions." "SCTID:700364009 NCIT:C1535926 MedDRA:C1535926 UMLS:C1535926 MESH:D065886" +MONDO:0700092 "A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions." "SCTID:700364009 NCIT:C1535926 MedDRA:C1535926 UMLS:C1535926 ICD10CM:F01-F99 MESH:D065886" UBERON:0008816 MONDO:0041261 "UMLS:C0268029 SCTID:26436007" MONDO:0020631 "OMIM:617829 UMLS:CN757794 DOID:0080471" MONDO:0014559 "Orphanet:457212 OMIM:616269 UMLS:C4225395" -MONDO:0018444 "Orphanet:404469 ICD10:N97.8" +MONDO:0018444 "Orphanet:404469 ICD10CM:N97.8" UBERON:0018413 MONDO:0015949 "Orphanet:183484 UMLS:CN200546" -MONDO:0008056 "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness." "Orphanet:273 DOID:11722 MESH:D009223 OMIM:160900 NCIT:C84679 ICD10:G71.1 NCIT:C84914 GARD:0008310 ICD9:359.21 UMLS:C0027126 ICD10:G71.11" +MONDO:0008056 "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness." "Orphanet:273 DOID:11722 MESH:D009223 OMIM:160900 NCIT:C84679 NCIT:C84914 GARD:0008310 ICD9:359.21 UMLS:C0027126 ICD10CM:G71.1" HP:0000966 "Abnormally diminished capacity to sweat." "UMLS:C0020620 SNOMEDCT_US:45004005 MEDDRA:10021013 MSH:D007007" MONDO:0006162 "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "UMLS:C3272611 EFO:1000195 NCIT:C96160" MONDO:0000726 "A scoliosis with no known cause." "OMIM:608765 DOID:0060250 OMIM:181800 OMIM:607354 UMLS:CN241052 OMIM:612239 OMIM:612238 SCTID:203639008" -MONDO:0012123 "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common." "SCTID:725078006 MESH:C535743 OMIM:608799 Orphanet:79322 GARD:0009831 NCIT:C126871 ICD10:E77.8 DOID:0080557" -MONDO:0010558 "Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state." "OMIM:303110 ICD10:Q87.8 UMLS:C1844836 GARD:0000369 MESH:C537793 Orphanet:1435 SCTID:717761005" +MONDO:0012123 "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common." "SCTID:725078006 MESH:C535743 OMIM:608799 Orphanet:79322 GARD:0009831 ICD10CM:E77.8 NCIT:C126871 DOID:0080557" +MONDO:0010558 "Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state." "OMIM:303110 UMLS:C1844836 GARD:0000369 MESH:C537793 ICD10CM:Q87.8 Orphanet:1435 SCTID:717761005" CHR:9606-chr2p13.2 UBERON:0007619 MONDO:0000177 UBERON:0015918 -MONDO:0017246 "ICD10:Q33.2 Orphanet:280811" +MONDO:0017246 "ICD10CM:Q33.2 Orphanet:280811" MONDO:0002822 "A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern." "DOID:3965 ICDO:8190/3 ICDO:8332/3 UMLS:C0302182 NCIT:C4068" UBERON:0001781 UBERON:0008817 @@ -25635,10 +25617,10 @@ MONDO:0009690 "Any congenital myasthenic syndrome in which the cause of the dise MONDO:0018441 http://identifiers.org/hgnc/11799 UBERON:2002162 -MONDO:0008606 "Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters." "OMIM:190650 GARD:0000242 MESH:C536619 UMLS:C1860805 ICD10:Q74.8 Orphanet:3133" -MONDO:0016648 "Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6." "DOID:12721 OMIM:132400 ICD10:Q77.3 OMIM:226900 SCTID:59708000 MESH:D010009 OMIM:600969 GARD:0010756 OMIMPS:132400 Orphanet:251 OMIM:607078 MedDRA:10028197 ICD9:756.56 HP:0002654 OMIM:600204 OMIM:614135" +MONDO:0008606 "Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters." "OMIM:190650 GARD:0000242 ICD10CM:Q74.8 MESH:C536619 UMLS:C1860805 Orphanet:3133" +MONDO:0016648 "Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6." "DOID:12721 OMIM:132400 OMIM:226900 SCTID:59708000 MESH:D010009 OMIM:600969 GARD:0010756 OMIMPS:132400 Orphanet:251 OMIM:607078 MedDRA:10028197 ICD9:756.56 HP:0002654 ICD10CM:Q77.3 OMIM:600204 OMIM:614135" UBERON:0014717 -MONDO:0011211 "Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion." "UMLS:C1865695 Orphanet:168549 MESH:C535795 GARD:0008720 ICD10:Q77.8 OMIM:602271" +MONDO:0011211 "Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion." "UMLS:C1865695 ICD10CM:Q77.8 Orphanet:168549 MESH:C535795 GARD:0008720 OMIM:602271" UBERON:0018674 CHEBI:78608 "An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any alpha-amino acid; major species at pH 7.3." MONDO:0015948 "Orphanet:183478 UMLS:CN200545" @@ -25651,19 +25633,19 @@ MONDO:0021204 "Chronic form of otitis media (disease)." "UMLS:C0271441 ICD9:381. MONDO:0044323 "Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017})." "OMIM:617537 UMLS:C4479637" MONDO:0005139 "An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight." "UMLS:C0028756 SCTID:83911000119104 EFO:0001074 DOID:11981 NIFSTD:nlx_dys_20090303 MESH:D009767 ICD9:278.01 NCIT:C34858" MONDO:0014775 "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene." "Orphanet:466784 UMLS:C4225206 DOID:0111470 OMIM:616794" -MONDO:0007295 "A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit." "SCTID:44145005 DOID:3329 UMLS:C2363129 ICD10:G40.0 UMLS:C0376532 ICD9:345.80 OMIM:245570 NCIT:C116538 Orphanet:1945 UMLS:CN200685 GARD:0010287 OMIM:117100" +MONDO:0007295 "A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit." "SCTID:44145005 ICD10CM:G40.0 DOID:3329 UMLS:C2363129 UMLS:C0376532 ICD9:345.80 OMIM:245570 NCIT:C116538 Orphanet:1945 UMLS:CN200685 GARD:0010287 OMIM:117100" MONDO:0004730 "A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders." "UMLS:C0037822 NCIT:C5041 DOID:92 ICD9:784.40 SCTID:47004009 ICD9:784.49 MESH:D013064" MONDO:0000176 -MONDO:0015134 "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood." "ICD10:D70 Orphanet:101987 NCIT:C61242" -MONDO:0007525 "Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms." "UMLS:C1851801 NCIT:C125701 Orphanet:99876 GARD:0002084 ICD10:Q79.6 Orphanet:1899 Orphanet:99875 SCTID:4170004 OMIM:130060 UMLS:CN200649 MESH:C562625" +MONDO:0015134 "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood." "Orphanet:101987 NCIT:C61242 ICD10CM:D70" +MONDO:0007525 "Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms." "UMLS:C1851801 NCIT:C125701 Orphanet:99876 GARD:0002084 ICD10CM:Q79.6 Orphanet:1899 Orphanet:99875 SCTID:4170004 OMIM:130060 UMLS:CN200649 MESH:C562625" CL:1000326 "A goblet cell that is part of the epithelium proper of ileum." "FMA:263067" HP:0031652 GO:0002832 "Any process that stops, prevents, or reduces the frequency, rate, or extent of a response to biotic stimulus." GO:0022890 "Enables the transfer of inorganic cations from one side of a membrane to the other. Inorganic cations are atoms or small molecules with a positive charge that do not contain carbon in covalent linkage." -MONDO:0014624 "Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle." "ICD10:H50.61 SCTID:35929003 UMLS:C0155339 DOID:10235 OMIM:616407 GARD:0005963 ICD9:378.61" +MONDO:0014624 "Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle." "SCTID:35929003 UMLS:C0155339 DOID:10235 OMIM:616407 GARD:0005963 ICD9:378.61" MONDO:0015945 "OBSOLETE. Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." "Orphanet:183422 UMLS:CN200541" -MONDO:0001538 "A ischemic disease that involves the retina." "UMLS:C0162291 ICD10:H35.82 DOID:12510 ICD9:362.84 SCTID:26468004" -MONDO:0011106 "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs." "Orphanet:412022 MESH:C563293 UMLS:C1832167 ICD10:Q87.0 OMIM:601552" +MONDO:0001538 "A ischemic disease that involves the retina." "UMLS:C0162291 DOID:12510 ICD9:362.84 SCTID:26468004 ICD10CM:H35.82" +MONDO:0011106 "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs." "Orphanet:412022 ICD10CM:Q87.0 MESH:C563293 UMLS:C1832167 OMIM:601552" http://identifiers.org/hgnc/14291 HP:0001787 "An abnormality of the birth process." "UMLS:C0549629 SNOMEDCT_US:274127000" MONDO:0035369 @@ -25671,10 +25653,10 @@ UBERON:0018673 ECTO:0000537 "An exposure to toxin." MONDO:0007944 "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene." "UMLS:CN119605 OMIM:154500" MONDO:0021033 "Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve." "NCIT:C35619" -MONDO:0001373 "UMLS:C0153612 DOID:11811 SCTID:188243001 ICD9:188.4 ICD10:C67.4" +MONDO:0001373 "UMLS:C0153612 DOID:11811 SCTID:188243001 ICD9:188.4" MONDO:0032608 "OMIM:618224" GO:0032259 "The process in which a methyl group is covalently attached to a molecule." -MONDO:0019204 "Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening." "UMLS:CN205794 MedDRA:10066393 Orphanet:79127 ICD10:J68.4" +MONDO:0019204 "Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening." "UMLS:CN205794 ICD10CM:J68.4 MedDRA:10066393 Orphanet:79127" UBERON:0011118 SO:0001019 "A variation that increases or decreases the copy number of a given region." HP:0011962 "Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy." "UMLS:C4023106" @@ -25684,22 +25666,22 @@ HP:0000107 "A fluid filled sac in the kidney." "UMLS:C0022679 MSH:D052177 UMLS:C MONDO:0003745 "A spindle cell melanoma that involves the optic choroid." "DOID:6041 UMLS:C1333027 NCIT:C6099" MONDO:0007666 "Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children)." "Orphanet:2085 OMIM:137763 GARD:0002483 UMLS:C1842025 MESH:C564232" MONDO:0000175 -MONDO:0006037 "Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." "Orphanet:2189 SCTID:721232000 UMLS:C2931104 OMIM:236680 OMIM:614120 GARD:0006683 MESH:C536079 ICD10:Q87.8 EFO:1000033 OMIMPS:236680 DOID:0050779" -MONDO:0002282 "A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)" "ICD10:A92.30 DOID:2366 ICD9:066.40 SCTID:417093003 ICD10:A92.3 MESH:D014901 ICD9:066.4" -MONDO:0000355 "Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence." "GARD:0004769 NCIT:C123438 SCTID:240062007 DOID:0050558 ICD10:G71.2 MESH:C537521 Orphanet:75840 OMIM:616470 OMIMPS:254090 OMIM:254090 UMLS:C0410179" +MONDO:0006037 "Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." "ICD10CM:Q87.8 Orphanet:2189 SCTID:721232000 UMLS:C2931104 OMIM:236680 OMIM:614120 GARD:0006683 MESH:C536079 EFO:1000033 OMIMPS:236680 DOID:0050779" +MONDO:0002282 "A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)" "DOID:2366 ICD9:066.40 SCTID:417093003 MESH:D014901 ICD9:066.4" +MONDO:0000355 "Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence." "GARD:0004769 ICD10CM:G71.2 NCIT:C123438 SCTID:240062007 DOID:0050558 MESH:C537521 Orphanet:75840 OMIM:616470 OMIMPS:254090 OMIM:254090 UMLS:C0410179" http://identifiers.org/hgnc/14294 MONDO:0100278 "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene." -MONDO:0011025 "Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia." "SCTID:717332007 OMIM:601238 Orphanet:94122 DOID:0060694 UMLS:C1832585 ICD10:G11.0 MESH:C563363" +MONDO:0011025 "Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia." "SCTID:717332007 ICD10CM:G11.0 OMIM:601238 Orphanet:94122 DOID:0060694 UMLS:C1832585 MESH:C563363" MONDO:0016172 "An instance of sensory ganglionopathy that is acquired during the lifetime of the individual." "Orphanet:208984" UBERON:0011119 http://identifiers.org/hgnc/10599 MONDO:0044972 "A disease or disorder that involves the eosinophil." "UMLS:C1691020 SCTID:417967008" MONDO:0033809 "Orphanet:519390" GO:0045333 "The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration)." -MONDO:0019439 "Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement." "Orphanet:85445 NCIT:C3818 UMLS:C3536715 GARD:0010560 UMLS:C0221014 SCTID:281034005 ICD9:277.39 MedDRA:10039811 ICD10:E85.3" +MONDO:0019439 "Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement." "Orphanet:85445 NCIT:C3818 UMLS:C3536715 GARD:0010560 UMLS:C0221014 SCTID:281034005 ICD9:277.39 MedDRA:10039811" MONDO:0003862 "A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies." "UMLS:C1513101 DOID:6344 NCIT:C6910" MONDO:0005902 "Allergic reaction to peanuts that is triggered by the immune system." "DOID:4378 ICD9:995.3 EFO:0007425 MESH:D021183 UMLS:C0559470 SCTID:91935009" -MONDO:0000212 "A hypercalcemia disease that occurs between 28 days to one year of life.." "OMIMPS:143880 SCTID:276645004 SCTID:34225008 OMIM:143880 ICD10:E83.5 NCIT:C129734 MESH:C562999 OMIM:616963 Orphanet:300547 UMLS:C4329374 UMLS:CN203398" +MONDO:0000212 "A hypercalcemia disease that occurs between 28 days to one year of life.." "OMIMPS:143880 SCTID:276645004 SCTID:34225008 ICD10CM:E83.5 OMIM:143880 NCIT:C129734 MESH:C562999 OMIM:616963 Orphanet:300547 UMLS:C4329374 UMLS:CN203398" http://identifiers.org/hgnc/15492 UBERON:0015079 MONDO:0000174 @@ -25708,25 +25690,25 @@ http://identifiers.org/hgnc/11796 GO:0061620 "The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, occurring through a glucose-6-phosphate intermediate, with the concomitant production of a small amount of ATP." MONDO:0002466 "A carcinoma that arises from epithelial cells of the eye" "UMLS:C0848866 DOID:295 NCIT:C6079" UBERON:0014716 -MONDO:0016081 "Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel." "GARD:0001533 ICD10:Q24.5 Orphanet:2041 MedDRA:10069441" +MONDO:0016081 "Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel." "GARD:0001533 ICD10CM:Q24.5 Orphanet:2041 MedDRA:10069441" http://identifiers.org/hgnc/11530 CL:0000825 "A lymphoid progenitor cell that is committed to the natural killer cell lineage, expressing CD122 (IL-15) receptor, but lacking many of the phenotypic characteristics of later stages of natural killer cell development such as expression of NK activating and inhibitory molecules. In human this cell has the phenotype CD34-positive, CD45RA-positive, CD10-positive, CD117-negative, and CD161 negative." GO:0000313 "A ribosome contained within a subcellular membrane-bounded organelle." MONDO:0003944 "A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "DOID:6608 UMLS:C1333386 NCIT:C5661" http://identifiers.org/hgnc/30605 -MONDO:0007280 "A cataract that has material basis in variation in the region 1pter-p36.13." "GARD:0001146 DOID:0110228 Orphanet:98983 OMIM:115665 ICD10:Q12.0 MESH:C538285 Orphanet:91492 UMLS:C1861833" +MONDO:0007280 "A cataract that has material basis in variation in the region 1pter-p36.13." "GARD:0001146 DOID:0110228 OMIM:115665 Orphanet:98983 MESH:C538285 Orphanet:91492 UMLS:C1861833" MONDO:0011368 "A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population." "UMLS:C1709457 ICDO:8341/3 NCIT:C46004 Orphanet:319487 MESH:C563277 OMIM:603744" MONDO:0000173 "UMLS:CN262500 OMIMPS:609308" MONDO:0017589 "Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts." "Orphanet:300552" CL:0000126 "A neuroglial cell of ectodermal origin, i.e., the astrocytes and oligodendrocytes considered together." "CALOHA:TS-2027 BTO:0000771 FMA:54538" UBERON:0005218 GO:0104004 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an environmental stimulus." -MONDO:0016268 "A papillary carcinoma that involves the body of uterus." "UMLS:CN201057 Orphanet:213726 ICD10:C54.1" +MONDO:0016268 "A papillary carcinoma that involves the body of uterus." "UMLS:CN201057 Orphanet:213726 ICD10CM:C54.1" MONDO:0032605 "OMIM:618221" GO:0007623 "Any biological process in an organism that recurs with a regularity of approximately 24 hours." MONDO:0026726 "OMIM:301028 DOID:0070357" -MONDO:0012301 "Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive." "DOID:0080120 UMLS:C3501891 OMIM:609560 ICD9:359.89 MESH:C563698 SCTID:703527003 ICD10:G71.3 Orphanet:254875" -MONDO:0017598 "Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features." "MESH:D054446 ONCOTREE:PCALCL Orphanet:300865 NCIT:C6860 MedDRA:10065863 UMLS:C1301362 ICD10:C86.6" +MONDO:0012301 "Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive." "ICD10CM:G71.3 DOID:0080120 UMLS:C3501891 OMIM:609560 ICD9:359.89 MESH:C563698 SCTID:703527003 Orphanet:254875" +MONDO:0017598 "Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features." "MESH:D054446 ONCOTREE:PCALCL ICD10CM:C86.6 Orphanet:300865 NCIT:C6860 MedDRA:10065863 UMLS:C1301362" GO:0002830 "Any process that activates or increases the frequency, rate, or extent of a type 2 immune response." http://identifiers.org/hgnc/3579 MONDO:0012152 "OMIM:608906" @@ -25742,36 +25724,36 @@ MONDO:0100148 "A complex neurodevelopmental disorder that is transmitted via X-l MONDO:0032604 "OMIM:618220" UBERON:0013514 http://identifiers.org/hgnc/4512 -MONDO:0000107 "Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress." "OMIMPS:602483 MESH:C538270 OMIM:612798 SCTID:702443003 UMLS:C1865295 UMLS:CN160484 ICD10:Q75.8 OMIM:602483 OMIM:614669 OMIM:615706 GARD:0009798 Orphanet:137888" +MONDO:0000107 "Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress." "OMIMPS:602483 MESH:C538270 OMIM:612798 SCTID:702443003 UMLS:C1865295 ICD10CM:Q75.8 UMLS:CN160484 OMIM:602483 OMIM:614669 OMIM:615706 GARD:0009798 Orphanet:137888" GO:0001808 "Any process that stops, prevents, or reduces the rate of type IV hypersensitivity, a type of inflammatory response." ENVO:01000010 GO:0009617 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium." -MONDO:0001271 "A partial dislocation of the lens of the eye." "HP:0001132 ICD9:379.32 ICD10:H27.11 DOID:11364 NCIT:C34772 SCTID:65814009 UMLS:C0023316 MESH:D007906" +MONDO:0001271 "A partial dislocation of the lens of the eye." "HP:0001132 ICD9:379.32 DOID:11364 NCIT:C34772 SCTID:65814009 UMLS:C0023316 MESH:D007906" MONDO:0012153 "Orphanet:1020 OMIM:608907 UMLS:C1837149 MESH:C563834 DOID:0111364" UBERON:0013515 MONDO:0014164 "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene." "Orphanet:564 UMLS:C3809352 OMIM:615397" MONDO:0006949 "Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." "EFO:1001155 DOID:2569 ICD9:362.57 MedDRA:10062776 UMLS:C0035312 SCTID:247153005 MESH:D015593" MONDO:0004711 -MONDO:0019649 "Orphanet:93206 UMLS:CN206521 ICD10:N04.1" -MONDO:0001255 "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease." "ICD10:J67.7 ICD9:495.7 UMLS:C0155891 SCTID:195990006 DOID:11289" +MONDO:0019649 "ICD10CM:N04.1 Orphanet:93206 UMLS:CN206521" +MONDO:0001255 "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease." "ICD9:495.7 UMLS:C0155891 SCTID:195990006 DOID:11289" UBERON:0008811 http://identifiers.org/hgnc/5973 -MONDO:0020396 "Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported." "Orphanet:99055 ICD10:Q22.8" +MONDO:0020396 "Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported." "ICD10CM:Q22.8 Orphanet:99055" UBERON:0015078 CHR:9606-chr1q21.1 -MONDO:0011176 "Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." "OMIM:602014 MESH:C566593 GARD:0013072 SCTID:190856003 DOID:0060883 Orphanet:30924 UMLS:C1865974 ICD10:E83.4" -MONDO:0020331 "Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues." "ONCOTREE:ISM MedDRA:10056452 NCIT:C9286 ICDO:9741/1 ICD10:D47.0 UMLS:C0272203 DOID:4660 SCTID:70910003 Orphanet:98848" +MONDO:0011176 "Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications." "OMIM:602014 MESH:C566593 GARD:0013072 SCTID:190856003 DOID:0060883 Orphanet:30924 UMLS:C1865974 ICD10CM:E83.4" +MONDO:0020331 "Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues." "ONCOTREE:ISM MedDRA:10056452 NCIT:C9286 ICDO:9741/1 UMLS:C0272203 DOID:4660 SCTID:70910003 ICD10CM:D47.0 Orphanet:98848" MONDO:0007474 "OMIM:126840 MESH:C535721 GARD:0009743 UMLS:C1852009" GO:0044060 "Any process that modulates the frequency, rate or extent of an endocrine process, a process involving the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system." MONDO:0003779 -MONDO:0008610 "Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision." "OMIM:190900 Orphanet:88629 ICD10:H53.55 ICD9:368.53 UMLS:C0155017 SCTID:51886007 DOID:11661 ICD10:H53.5" +MONDO:0008610 "Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision." "OMIM:190900 ICD10CM:H53.5 Orphanet:88629 ICD9:368.53 UMLS:C0155017 SCTID:51886007 DOID:11661" MONDO:0032607 "OMIM:618223 DOID:0070345" MONDO:0026729 "OMIM:301031" MONDO:0002315 -MONDO:0001391 "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules." "UMLS:C0021192 SCTID:14386001 ICD9:030.2 DOID:11851 ICD10:A30.0" +MONDO:0001391 "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules." "UMLS:C0021192 SCTID:14386001 ICD9:030.2 ICD10CM:A30.0 DOID:11851" GO:0016250 "Catalysis of the reaction: N-sulfo-D-glucosamine + H2O = D-glucosamine + sulfate." MONDO:0024945 "Inflammation of the liver in non-human animals." "MESH:D006520" -MONDO:0018856 "Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis." "Orphanet:49804 SCTID:718105008 ICD10:E85.4+ ICD10:L99.0*" +MONDO:0018856 "Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis." "Orphanet:49804 ICD10EXP:E85.4+ SCTID:718105008 ICD10EXP:L99.0*" http://identifiers.org/hgnc/18828 GO:0031967 "A double membrane structure enclosing an organelle, including two lipid bilayers and the region between them. In some cases, an organelle envelope may have more than two membranes." SO:0001260 "A collection of discontinuous sequences." @@ -25802,16 +25784,16 @@ MONDO:0003511 UBERON:0005214 GO:0006906 "Fusion of the membrane of a transport vesicle with its target membrane." http://identifiers.org/hgnc/11791 -MONDO:0018063 "Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat." "Orphanet:33577 GARD:0007879 DOID:1525 EFO:1000742 ICD10:M35.6 SCTID:33760009 UMLS:C0030328 MESH:D010201 MedDRA:10047883" +MONDO:0018063 "Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat." "Orphanet:33577 GARD:0007879 DOID:1525 EFO:1000742 SCTID:33760009 UMLS:C0030328 MESH:D010201 MedDRA:10047883" GO:0106120 "Any process that activates or increases the frequency, rate or extent of a sterol biosynthetic process." MONDO:0032867 "OMIM:618680" GO:1903942 "Any process that activates or increases the frequency, rate or extent of respiratory gaseous exchange." UBERON:0013777 -MONDO:0011668 "Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes." "GARD:0010660 SCTID:609573005 Orphanet:552 MESH:C565231 UMLS:C1853371 NCIT:C129745 OMIM:606394 DOID:0111104" +MONDO:0011668 "Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes." "NCIT:C129745 GARD:0010660 SCTID:609573005 OMIM:606394 DOID:0111104 MESH:C565231 UMLS:C1853371 Orphanet:552" UBERON:0007617 -MONDO:0019344 "Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." "ICD9:279.49 UMLS:C2609059 EFO:1001982 ICD10:M35.8 GARD:0000735 SCTID:445187004 Orphanet:81 MedDRA:10068801 MESH:C537778" +MONDO:0019344 "Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." "ICD10CM:M35.8 ICD9:279.49 UMLS:C2609059 EFO:1001982 GARD:0000735 SCTID:445187004 Orphanet:81 MedDRA:10068801 MESH:C537778" MONDO:0032600 "OMIM:618205" -MONDO:0019646 "Orphanet:93176 ICD10:Q63.8" +MONDO:0019646 "ICD10CM:Q63.8 Orphanet:93176" http://identifiers.org/hgnc/5970 UBERON:0004016 UBERON:0008814 @@ -25819,7 +25801,7 @@ ENVO:01000268 "Atmospheric water vapour is water vapour that is part of an atmos UBERON:0012313 http://identifiers.org/hgnc/10593 NCBITaxon:694017 "GC_ID:1" -MONDO:0005967 "Infection of the spleen with species of mycobacterium." "ICD10:A18.85 ICD9:017.7 EFO:0007492 DOID:9305 SCTID:28399005 MESH:D014400 UMLS:C0041331" +MONDO:0005967 "Infection of the spleen with species of mycobacterium." "ICD9:017.7 EFO:0007492 DOID:9305 SCTID:28399005 MESH:D014400 UMLS:C0041331" HP:0002224 "The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter." "SNOMEDCT_US:52564001 UMLS:C4072835 UMLS:C4073292 MEDDRA:10048017 UMLS:C0343073 UMLS:C4072836" http://identifiers.org/hgnc/28423 UBERON:0005215 @@ -25827,31 +25809,31 @@ GO:0060850 "OBSOLETE. Any process that modulates the frequency, rate or extent o MONDO:0006624 "Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present." "EFO:1000781 MedDRA:10020853 HP:0000012 SCTID:236633002 ICD9:596.51 MESH:D053201" MONDO:0004503 "A meningioma that affects the upper clivus." "NCIT:C5290 UMLS:C1336871 DOID:8221" MONDO:0032866 "OMIM:618677" -MONDO:0016294 "Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out." "UMLS:C1844017 ICD10:Q43.1 OMIM:306980 MESH:C538319 Orphanet:2150 GARD:0002700" +MONDO:0016294 "Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out." "UMLS:C1844017 ICD10CM:Q43.1 OMIM:306980 MESH:C538319 Orphanet:2150 GARD:0002700" MONDO:0006450 "Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." "NCIT:C27912 ONCOTREE:TMN EFO:1000575 ICDO:9920/3" MONDO:0002477 "A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas." "NCIT:C5545 DOID:2992 ONCOTREE:PRNE UMLS:C1335515" -MONDO:0008900 "Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972." "GARD:0001064 Orphanet:1321 MESH:C537974 OMIM:211930 ICD10:Q87.2" +MONDO:0008900 "Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972." "GARD:0001064 Orphanet:1321 MESH:C537974 OMIM:211930" UBERON:0007616 -MONDO:0019561 "A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45." "SCTID:15084002 UMLS:C0030327 MESH:D015435 Orphanet:90285 ICD10:L93.2 NCIT:C82884" +MONDO:0019561 "A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45." "SCTID:15084002 UMLS:C0030327 ICD10CM:L93.2 MESH:D015435 Orphanet:90285 NCIT:C82884" UBERON:0013776 MONDO:0014553 "OMIM:616260 UMLS:C4015710" UBERON:0013510 http://identifiers.org/hgnc/25928 http://identifiers.org/hgnc/4516 MONDO:0001170 "Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body." "GARD:0006583 DOID:10969 ICD9:343.4 MESH:D006429 SCTID:1593000" -MONDO:0001330 "The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation." "ICD10:H52.4 UMLS:C0033075 MESH:D011305 ICD9:367.4 DOID:11638 SCTID:41256004" +MONDO:0001330 "The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation." "ICD10CM:H52.4 UMLS:C0033075 MESH:D011305 ICD9:367.4 DOID:11638 SCTID:41256004" MONDO:0032865 "OMIM:618674" -MONDO:0012530 "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown." "MESH:C567165 OMIM:610644 Orphanet:85112 ICD10:Q56.0" +MONDO:0012530 "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown." "MESH:C567165 OMIM:610644 Orphanet:85112 ICD10CM:Q56.0" GO:0043225 "Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + inorganic anion(out) = ADP + phosphate + inorganic anion(in)." http://identifiers.org/hgnc/10592 http://identifiers.org/hgnc/24725 MONDO:0014554 GO:1902113 "Any nucleotide phosphorylation that is involved in DNA repair." -MONDO:0020499 "Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness." "ICD10:A98.8 UMLS:CN207389 DOID:0050192 Orphanet:99825" +MONDO:0020499 "Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness." "ICD10CM:A98.8 UMLS:CN207389 DOID:0050192 Orphanet:99825" UBERON:0005216 -MONDO:0001421 "A neoplasm involving a frontal lobe." "NCIT:C5572 SCTID:126954003 DOID:12016 ICD10:C71.1 UMLS:C1263886 ICD9:191.1" +MONDO:0001421 "A neoplasm involving a frontal lobe." "NCIT:C5572 SCTID:126954003 DOID:12016 UMLS:C1263886 ICD9:191.1" NCBITaxon:694014 "GC_ID:1" -MONDO:0013594 "Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." "Orphanet:276198 GARD:0012367 UMLS:C3472711 NCIT:C148316 ICD10:G11.8 OMIM:614153 DOID:0050983 SCTID:711158005" +MONDO:0013594 "Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia." "Orphanet:276198 GARD:0012367 UMLS:C3472711 NCIT:C148316 OMIM:614153 ICD10CM:G11.8 DOID:0050983 SCTID:711158005" MONDO:0032869 "OMIM:618683 DOID:0111749" MONDO:0032603 "OMIM:618219" GO:0002274 "A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand." @@ -25859,49 +25841,49 @@ MONDO:0004290 "An exophytic, slow growing, well differentiated and non-metastasi GO:0001775 "A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand." HP:0001959 "Excessive thirst manifested by excessive fluid intake." "MSH:D059606 SNOMEDCT_US:267026004 SNOMEDCT_US:17173007 UMLS:C0085602" MONDO:0002140 "A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma." "UMLS:C0238519 NCIT:C7737 DOID:1901" -MONDO:0017249 "ICD10:Q33.0 Orphanet:280832" +MONDO:0017249 "Orphanet:280832 ICD10CM:Q33.0" http://identifiers.org/hgnc/10591 GO:1905038 "Any process that modulates the frequency, rate or extent of membrane lipid metabolic process." -MONDO:0012608 "A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported." "UMLS:C1970211 Orphanet:206580 ICD10:G12.2 OMIM:611067 MESH:C567023 DOID:0111213" -MONDO:0015325 "Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." "ICD10:Q87.8 Orphanet:1383 MESH:C536626 SCTID:722378009" +MONDO:0012608 "A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported." "UMLS:C1970211 ICD10CM:G12.2 Orphanet:206580 OMIM:611067 MESH:C567023 DOID:0111213" +MONDO:0015325 "Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." "ICD10CM:Q87.8 Orphanet:1383 MESH:C536626 SCTID:722378009" MONDO:0012158 "OMIM:608932 MESH:C563827 UMLS:C1837090" MONDO:0024662 "A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features." "UMLS:C1333118 NCIT:C5675" UBERON:0005217 UBERON:3000982 -MONDO:0001113 "DOID:10778 ICD9:422.91 SCTID:266238009 UMLS:C0155689 ICD10:I40.1" -MONDO:0014075 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene." "UMLS:C3808800 ICD10:Q12.0 DOID:0110236 Orphanet:98995 Orphanet:98994 Orphanet:91492 OMIM:615188 Orphanet:98988" -MONDO:0018747 "Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB." "SCTID:2772003 ICD10:L12.3 UMLS:C0079293 EFO:1000691 Orphanet:46487 MedDRA:10056508 ICD9:695.19 MESH:D016107 NCIT:C84690 DOID:4313 GARD:0006360 ICD10:L12.30" -MONDO:0044778 "A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)" "ICD10:C81.0 UMLS:C1334968 MEDGEN:233758 NCIT:C7258 Orphanet:86893 ONCOTREE:NLPHL" +MONDO:0001113 "ICD10CM:I40.1 DOID:10778 ICD9:422.91 SCTID:266238009 UMLS:C0155689" +MONDO:0014075 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene." "UMLS:C3808800 DOID:0110236 Orphanet:98995 Orphanet:98994 Orphanet:91492 OMIM:615188 Orphanet:98988" +MONDO:0018747 "Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB." "SCTID:2772003 ICD10CM:L12.3 UMLS:C0079293 EFO:1000691 Orphanet:46487 MedDRA:10056508 NCIT:C84690 ICD9:695.19 MESH:D016107 DOID:4313 GARD:0006360" +MONDO:0044778 "A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)" "UMLS:C1334968 MEDGEN:233758 NCIT:C7258 ICD10CM:C81.0 Orphanet:86893 ONCOTREE:NLPHL" MONDO:0035363 MONDO:0032868 "OMIM:618681" UBERON:0013774 CL:0000955 "A pre-B-II cell is a precursor B cell that expresses immunoglobulin mu heavy chain (IgHmu+), and lack expression of CD34, TdT, immunoglobulin kappa light chain and immunoglobulin lambda light chain." "CALOHA:TS-0819 BTO:0001133" -MONDO:0019178 "The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities." "Orphanet:77300 UMLS:CN205748 ICD10:Q87.0" +MONDO:0019178 "The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities." "Orphanet:77300 UMLS:CN205748 ICD10CM:Q87.0" ENVO:09200008 "The composition of some soil." HP:0040290 http://identifiers.org/hgnc/4519 CL:0002081 "This cell resembles a glia cell, express the glial marker S100 and act as a supporting cell to type I cell. This cell is located in a small cluster of type I and type II cells near the fork of the carotid artery." "FMA:84187" MONDO:0032601 "Orphanet:565788 OMIM:618213" MONDO:0041008 "UMLS:C0263283 SCTID:200824008" -MONDO:0019647 "Orphanet:93177 ICD10:Q63.8" -MONDO:0007620 "Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." "SCTID:238092004 ICD10:E78.6 Orphanet:79292 GARD:0006450 Orphanet:650 OMIM:136120 UMLS:C0342895" +MONDO:0019647 "Orphanet:93177 ICD10CM:Q63.8" +MONDO:0007620 "Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." "SCTID:238092004 Orphanet:79292 GARD:0006450 Orphanet:650 OMIM:136120 ICD10CM:E78.6 UMLS:C0342895" MONDO:0006262 "A adenoid cystic carcinoma that involves the lacrimal gland." "EFO:1000317 UMLS:C0346340 NCIT:C4540 SCTID:254987003 DOID:4870" MONDO:0012159 "OMIM:608935 UMLS:C1837089" MONDO:0007444 "OMIM:125540 UMLS:C1852160 MESH:C565109" MONDO:0006984 "An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid." "MedDRA:10042360 SCTID:37660004 DOID:11389 MESH:D013354 EFO:1001196 UMLS:C0038539" UBERON:0015081 -MONDO:0008297 "Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions." "SCTID:58275005 GARD:0007848 MESH:D046350 ICD10:E80.2 OMIM:176200 DOID:4346 NCIT:C85219 UMLS:C0162532 Orphanet:79473" -MONDO:0020528 "Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH)." "SCTID:190502001 MedDRA:10035109 SCTID:237734007 MESH:D047748 ICD10:E24.0 Orphanet:99892 EFO:1001110 UMLS:C0342442 DOID:3946" +MONDO:0008297 "Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions." "SCTID:58275005 GARD:0007848 ICD10CM:E80.2 MESH:D046350 OMIM:176200 DOID:4346 NCIT:C85219 UMLS:C0162532 Orphanet:79473" +MONDO:0020528 "Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH)." "SCTID:190502001 MedDRA:10035109 SCTID:237734007 MESH:D047748 Orphanet:99892 EFO:1001110 UMLS:C0342442 ICD10CM:E24.0 DOID:3946" UBERON:0005258 MONDO:0024359 "ICD9:327.27 SCTID:85721000119105 ICD9:786.09 UMLS:C3662057" GO:0044260 "The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells." MONDO:0026754 -MONDO:0011167 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21." "DOID:0110745 MESH:C566603 UMLS:C1866041 ICD10:E10 OMIM:601941" +MONDO:0011167 "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21." "DOID:0110745 MESH:C566603 UMLS:C1866041 OMIM:601941" UBERON:8400021 MONDO:0011661 "An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31." "OMIM:606348 MESH:C565234 DOID:0110889 UMLS:C1853438" MONDO:0032644 "OMIM:618267" GO:2000214 "Any process that modulates the frequency, rate or extent of proline metabolic process." -MONDO:0015840 "Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent." "ICD10:Q51.2 Orphanet:180126" +MONDO:0015840 "Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent." "ICD10CM:Q51.2 Orphanet:180126" MONDO:0013790 "Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene." "OMIM:614508 Orphanet:238722 UMLS:C3281089" http://identifiers.org/hgnc/3341 UBERON:0012321 @@ -25909,7 +25891,7 @@ MONDO:0009005 "Lack of production of either functional C1r or C1s protein, due t MONDO:0005623 "Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis." "GARD:0006945 DOID:7188 MESH:D013967 EFO:0006812 Wikipedia:Autoimmune_thyroiditis" MONDO:0025556 "DOID:0040041 SCTID:404808000 UMLS:C1321273 ICD9:506.3" MONDO:0015971 "Orphanet:183637 UMLS:CN200570" -MONDO:0007445 "SCTID:239088003 ICD10:Q82.4 GARD:0008550 MESH:C535374 Orphanet:86920 DOID:0111342 OMIM:125595" +MONDO:0007445 "SCTID:239088003 GARD:0008550 MESH:C535374 ICD10CM:Q82.4 Orphanet:86920 DOID:0111342 OMIM:125595" UBERON:0005259 UBERON:0015082 MONDO:0017385 "A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay." "OMIM:616645 UMLS:CN203114 OMIM:614959 OMIM:613722 GARD:0012919 Orphanet:293181 UMLS:CN240507 OMIM:615338 NCIT:C125387" @@ -25920,59 +25902,59 @@ http://identifiers.org/hgnc/25070 MONDO:0006353 "A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." "EFO:1000455 NCIT:C6835 UMLS:C1335343" MONDO:0014669 "Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene." "UMLS:C4049066 UMLS:CN231743 OMIM:616502" NCBITaxon:1511862 "GC_ID:1" -MONDO:0001134 "Hypertension that presents without an identifiable cause." "OMIM:603918 NCIT:C3478 EFO:1002032 ICD9:401.9 OMIM:608742 OMIM:610262 ICD10:I10 OMIM:607329 OMIM:610948 SCTID:59621000 MESH:C562386 OMIM:610261 ICD9:401 DOID:10825 OMIM:145500 UMLS:C0085580 OMIM:604329 Orphanet:243761 OMIM:611014" +MONDO:0001134 "Hypertension that presents without an identifiable cause." "OMIM:603918 NCIT:C3478 EFO:1002032 ICD9:401.9 OMIM:608742 OMIM:610262 OMIM:607329 OMIM:610948 SCTID:59621000 MESH:C562386 OMIM:610261 ICD9:401 DOID:10825 OMIM:145500 UMLS:C0085580 OMIM:604329 Orphanet:243761 OMIM:611014" http://identifiers.org/hgnc/16446 CL:1000313 "A goblet cell that is part of the epithelium of stomach." "FMA:263035" MONDO:0019592 "OBSOLETE. In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included." MONDO:0021131 "An ependymal tumor affecting the frontal lobe of the brain." "UMLS:C4330009 NCIT:C131573" MONDO:0032643 "OMIM:618266" -MONDO:0012364 "A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1." "ICD10:I42.0 OMIM:609915 UMLS:C1835926 DOID:0110442 MESH:C563688" +MONDO:0012364 "A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1." "OMIM:609915 UMLS:C1835926 DOID:0110442 ICD10CM:I42.0 MESH:C563688" UBERON:0012320 MONDO:0044329 "Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018})." "OMIM:617952 UMLS:CN244563" MONDO:0015970 "Orphanet:183634 UMLS:CN200569" ENVO:01000739 "An environmental system which can sustain and allow the growth of an ecological population." GO:0055070 "Any process involved in the maintenance of an internal steady state of copper ions within an organism or cell." MONDO:0015071 "A neuroendocrine neoplasm that involves the middle ear." "Orphanet:100084 SCTID:717918002 UMLS:C4305468 UMLS:CN197364" -MONDO:0007297 "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2." "ICD10:E85.4+ MESH:C538209 UMLS:C1861735 GARD:0009169 ICD10:I68.0* OMIM:117300 Orphanet:97346 DOID:0070030" +MONDO:0007297 "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2." "ICD10EXP:I68.0* ICD10EXP:E85.4+ MESH:C538209 GARD:0009169 UMLS:C1861735 OMIM:117300 Orphanet:97346 DOID:0070030" UBERON:0007651 -MONDO:0006742 "Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption." "MedDRA:10068848 NCIT:C35023 SCTID:56805008 MESH:D006043 ICD10:E01.2 DOID:13198 ICD9:240.0 ICD10:E01.0 EFO:1000916" +MONDO:0006742 "Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption." "MedDRA:10068848 NCIT:C35023 SCTID:56805008 MESH:D006043 DOID:13198 ICD9:240.0 EFO:1000916" MONDO:0011191 "MESH:C535860 UMLS:C1865871 Orphanet:464293 Orphanet:91415 OMIM:602089" MONDO:0007533 "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene." "MESH:C565058 Orphanet:288 OMIM:130600 UMLS:C1851741" -MONDO:0001074 "A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause." "MESH:D013981 ICD9:307.22 NCIT:C116768 DOID:10600 ICD10:F95.1" -MONDO:0011399 "Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." "UMLS:C0002312 MedDRA:10043390 OMIM:604131 DOID:1099 ICD9:282.43 ICD10:D56.0 ICD9:282.49 Orphanet:846 GARD:0000621 SCTID:68913001 NCIT:C34368 MESH:D017085" +MONDO:0001074 "A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause." "MESH:D013981 ICD9:307.22 NCIT:C116768 ICD10CM:F95.1 DOID:10600" +MONDO:0011399 "Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." "UMLS:C0002312 MedDRA:10043390 OMIM:604131 DOID:1099 ICD9:282.43 ICD10CM:D56.0 ICD9:282.49 Orphanet:846 GARD:0000621 SCTID:68913001 NCIT:C34368 MESH:D017085" MONDO:0032647 "OMIM:618272" GO:0001841 "The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system." UBERON:8400023 MONDO:0024357 "SCTID:104831000119109 UMLS:C3662033" -MONDO:0016461 "The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." "UMLS:CN201426 ICD10:Q92.3 UMLS:C4304526 Orphanet:228415 SCTID:719665003" +MONDO:0016461 "The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." "UMLS:CN201426 UMLS:C4304526 Orphanet:228415 SCTID:719665003" MONDO:0036976 "A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites." "UMLS:C0334232 NCIT:C4092 ICDO:8010/0 ICDO:8011/0" http://identifiers.org/hgnc/6949 MONDO:0001001 "A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops." "GARD:0008371 UMLS:C0340177 NCIT:C34410 ICD9:503 SCTID:50076003 DOID:10321 MESH:C537080" MONDO:0009365 "Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene." "MESH:C565504 DOID:0111355 Orphanet:2189 UMLS:C1856016 OMIM:236680" MONDO:0060582 "UMLS:C4521678 OMIM:617717 Orphanet:542585" -MONDO:0016384 "This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia." "Orphanet:2230 UMLS:CN201280 ICD10:E23.0 SCTID:721842008" -MONDO:0005147 "A chronic condition characterized by minimal or absent production of insulin by the pancreas." "DOID:9744 OMIM:125852 SCTID:46635009 OMIM:601942 EFO:0001359 ICD10:E10 OMIM:612522 KEGG:04940 NCIT:C2986 Orphanet:243377 OMIM:612520 MESH:D003922 OMIM:222100 OMIM:601388 OMIM:610155" +MONDO:0016384 "This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia." "Orphanet:2230 UMLS:CN201280 ICD10CM:E23.0 SCTID:721842008" +MONDO:0005147 "A chronic condition characterized by minimal or absent production of insulin by the pancreas." "DOID:9744 OMIM:125852 SCTID:46635009 OMIM:601942 EFO:0001359 OMIM:612522 KEGG:04940 NCIT:C2986 Orphanet:243377 OMIM:612520 MESH:D003922 OMIM:222100 OMIM:601388 OMIM:610155" CHR:9606-chrXq28 -MONDO:0018943 "Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients." "ICD10:G71.8 ICD9:359.89 HP:0003715 Orphanet:593 NCIT:C83009 SCTID:699269005 GARD:0010529 OMIMPS:601419 MESH:C580316 UMLS:C2678065 DOID:0080307" +MONDO:0018943 "Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients." "ICD10CM:G71.8 ICD9:359.89 HP:0003715 Orphanet:593 NCIT:C83009 SCTID:699269005 GARD:0010529 OMIMPS:601419 MESH:C580316 UMLS:C2678065 DOID:0080307" UBERON:0007650 CL:0019031 "Goblet cells reside throughout the length of the small and large intestine and are responsible for the production and maintenance of the protective mucus blanket by synthesizing and secreting high-molecular-weight glycoproteins known as mucins. Human intestinal goblet cells secrete the MUC2 mucin, as well as a number of typical mucus components: CLCA1, FCGBP, AGR2, ZG16, and TFF3." UBERON:0015080 -MONDO:0020364 "Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." "OMIM:609140 ICD10:H18.5 OMIMPS:122000 Orphanet:98973 UMLS:CN239252 OMIM:609141 OMIM:122000 DOID:0060457" +MONDO:0020364 "Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." "OMIM:609140 OMIMPS:122000 Orphanet:98973 UMLS:CN239252 OMIM:609141 OMIM:122000 DOID:0060457 ICD10CM:H18.5" NCBITaxon:80840 "PMID:16403855 GC_ID:11" MONDO:0042973 "An instance of osteosclerosis that is caused by an inherited modification of the individual's genome." "GARD:0004174" -MONDO:0012120 "Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period." "OMIM:608782 Orphanet:79246 MESH:C536258 Orphanet:765 GARD:0009888 ICD10:E74.4 UMLS:C1837429" +MONDO:0012120 "Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period." "OMIM:608782 Orphanet:79246 MESH:C536258 Orphanet:765 GARD:0009888 UMLS:C1837429 ICD10CM:E74.4" MONDO:0032646 "OMIM:618270" -MONDO:0016601 "Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur." "Orphanet:247573 UMLS:CN201794 ICD10:E72.2" +MONDO:0016601 "Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur." "Orphanet:247573 ICD10CM:E72.2 UMLS:CN201794" http://identifiers.org/hgnc/6947 -MONDO:0018459 "Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD )." "OMIM:307030 ICD10:E74.8 GARD:0002807 Orphanet:408" +MONDO:0018459 "Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD )." "ICD10CM:E74.8 OMIM:307030 GARD:0002807 Orphanet:408" BFO:0000019 -MONDO:0005753 "Inflammation of the epiglottis." "SCTID:29608009 MESH:D004826 ICD9:464.3 DOID:9398 UMLS:C0014541 SCTID:80384002 EFO:0007261 NCIT:C116007 ICD10:J05.1 ICD10:J05.10" -MONDO:0010531 "Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." "SCTID:720746006 GARD:0001515 ICD10:Q87.8 OMIM:301815 Orphanet:1484" -MONDO:0017941 "An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia." "NCIT:C128422 UMLS:C0008055 ICD10:A92.0 MESH:D065632 SCTID:111864006 GARD:0006038 Orphanet:324625 DOID:0050012" +MONDO:0005753 "Inflammation of the epiglottis." "SCTID:29608009 MESH:D004826 ICD9:464.3 DOID:9398 UMLS:C0014541 SCTID:80384002 EFO:0007261 NCIT:C116007" +MONDO:0010531 "Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." "SCTID:720746006 GARD:0001515 ICD10CM:Q87.8 OMIM:301815 Orphanet:1484" +MONDO:0017941 "An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia." "NCIT:C128422 UMLS:C0008055 MESH:D065632 SCTID:111864006 GARD:0006038 Orphanet:324625 DOID:0050012" CHEBI:24651 "Hydroxides are chemical compounds containing a hydroxy group or salts containing hydroxide (OH(-))." MONDO:0032645 "OMIM:618268" http://identifiers.org/hgnc/3344 -MONDO:0017704 "An instance of partial epilepsy that is caused by an inherited modification of the individual's genome." "GARD:0002173 Orphanet:309 ICD10:G40.1 UMLS:CN227178" +MONDO:0017704 "An instance of partial epilepsy that is caused by an inherited modification of the individual's genome." "ICD10CM:G40.1 GARD:0002173 Orphanet:309 UMLS:CN227178" NCBITaxon:111527 "GC_ID:11" GO:0030097 "The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates." CHR:9606-chrXq27 @@ -25990,92 +25972,92 @@ MONDO:0012390 "UMLS:C1864939 OMIM:610001 GARD:0009946 MESH:C535381" MONDO:0009842 "UMLS:C1850054 MESH:C564899 OMIM:260570" GO:0050795 "Any process that modulates the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli." UBERON:0003959 -MONDO:0016451 "Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia." "ICD9:327.11 ICD10:G47.11 UMLS:C2711059 ICD10:F51.1 SCTID:442416002 Orphanet:228315" -MONDO:0017258 "Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss." "Orphanet:280921 ICD10:H44.1 SCTID:766933000" +MONDO:0016451 "Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia." "ICD9:327.11 ICD10CM:F51.1 ICD10CM:G47.11 UMLS:C2711059 SCTID:442416002 Orphanet:228315" +MONDO:0017258 "Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss." "Orphanet:280921 ICD10CM:H44.1 SCTID:766933000" UBERON:0005255 -MONDO:0001335 "A hypotrichosis that involves the eyelid." "UMLS:C0155214 SCTID:70738004 ICD10:H02.72 DOID:11671 ICD9:374.55" +MONDO:0001335 "A hypotrichosis that involves the eyelid." "UMLS:C0155214 SCTID:70738004 DOID:11671 ICD9:374.55" MONDO:0002683 "A choroid plexus neoplasm that occurs in an adult." "UMLS:C0796430 DOID:3542 NCIT:C8568" GO:0050664 "Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces an oxygen molecule." CL:0000081 "A cell found predominately in the blood." "FMA:62844" UBERON:8400024 -MONDO:0014900 "Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy." "OMIM:617072 SCTID:725907002 Orphanet:424261 DOID:0110289 ICD10:G71.0 UMLS:C4310731" +MONDO:0014900 "Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy." "OMIM:617072 ICD10CM:G71.0 SCTID:725907002 Orphanet:424261 DOID:0110289 UMLS:C4310731" MONDO:0004945 MONDO:0006082 "A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC." "UMLS:C1412036 SCTID:255084004 EFO:1000081 ONCOTREE:ANSC DOID:5525 NCIT:C9161" -MONDO:0018352 "A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)" "Orphanet:398058 DOID:5518 UMLS:C0238348 ICD10:C60.2 NCIT:C7729 SCTID:403468003 ICD10:C60.1 ICD10:C60.9 ICD10:C60.0 ICD10:C60.8 ONCOTREE:PSCC" +MONDO:0018352 "A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)" "Orphanet:398058 SCTID:403468003 ICD10CM:C60.9 ICD10CM:C60.8 UMLS:C0238348 DOID:5518 ICD10CM:C60.2 NCIT:C7729 ONCOTREE:PSCC ICD10CM:C60.0 ICD10CM:C60.1" MONDO:0044793 "A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis." "GARD:0010412 NCIT:C27007 ICDO:8770/0" CL:0002017 "An orthochromatophilic erythroblast that is ter119-high, CD71-low, and Kit-negative." -MONDO:0005155 "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." "UMLS:C0023890 ICD9:571.5 NCIT:C2951 MESH:D008103 OMIM:215600 SCTID:19943007 EFO:0001422 ICD10:K74.60 DOID:5082" -MONDO:0021681 "A Disease due to or propagated by sexual contact." "ICD9:099.9 ICD10:A50.A64 MESH:D012749 SCTID:8098009 ICD9:099.8 NCIT:C3365 UMLS:C0036916" -MONDO:0015241 "Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested." "SCTID:702447002 ICD9:719.89 Orphanet:1149 GARD:0003150 GARD:0000783" +MONDO:0005155 "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." "UMLS:C0023890 ICD9:571.5 NCIT:C2951 MESH:D008103 OMIM:215600 SCTID:19943007 EFO:0001422 DOID:5082" +MONDO:0021681 "A Disease due to or propagated by sexual contact." "ICD9:099.9 MESH:D012749 SCTID:8098009 ICD10CM:A50-A64 ICD9:099.8 NCIT:C3365 UMLS:C0036916" +MONDO:0015241 "Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested." "SCTID:702447002 ICD9:719.89 Orphanet:1149 GARD:0003150 OMIM:208200 GARD:0000783" GO:0097690 "Binds to and stops, prevents, or reduces the activity of an iron ion transmembrane transporter." UBERON:3000977 NCBITaxon:499202 "GC_ID:1 PMID:17997297" MONDO:0003842 "Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood." "NCIT:C6286 DOID:6286 UMLS:C0278594 GARD:0009301" MONDO:0009433 "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene." "OMIM:614435 OMIM:241550 UMLS:CN031062 UMLS:C0152101" -MONDO:0000261 "An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil." "UMLS:C0001427 SCTID:70020005 UMLS:C0396023 ICD10:J35.02 ICD9:474.01 DOID:0050145" +MONDO:0000261 "An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil." "UMLS:C0001427 SCTID:70020005 UMLS:C0396023 ICD10CM:J35.02 ICD9:474.01 DOID:0050145" MONDO:0013253 "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene." "OMIM:613399 Orphanet:145 Orphanet:227535" MONDO:0000820 "A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur." "Orphanet:164 DOID:0060669 NCIT:C84626" MONDO:0000344 "A disease caused by infection with Ross River virus." "UMLS:C0035865 DOID:0050518 SCTID:602001" -MONDO:0015035 "Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." "UMLS:C4274993 Orphanet:100012 ICD10:Q04.3 UMLS:CN228901 SCTID:715819005" +MONDO:0015035 "Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb." "UMLS:C4274993 Orphanet:100012 ICD10CM:Q04.3 UMLS:CN228901 SCTID:715819005" UBERON:0011380 NCBITaxon:6340 "GC_ID:1" -MONDO:0010239 "Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients." "UMLS:C1848201 Orphanet:99796 UMLS:C4275012 OMIM:300067 ICD10:Q04.3 SCTID:715780008 UMLS:C1848199 GARD:0006914 Orphanet:2148" +MONDO:0010239 "Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients." "UMLS:C1848201 Orphanet:99796 ICD10CM:Q04.3 UMLS:C4275012 OMIM:300067 SCTID:715780008 UMLS:C1848199 GARD:0006914 Orphanet:2148" CHR:9606-chr2q2 CL:0000300 "A mature sexual reproductive cell having a single set of unpaired chromosomes." "CALOHA:TS-0395 FBbt:00005412 FMA:18649" UBERON:0005256 http://identifiers.org/hgnc/6944 -MONDO:0010401 "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present." "Orphanet:98863 DOID:0070251 ICD10:G71.0 UMLS:C2678055 Orphanet:261 OMIM:300696 Orphanet:178461" +MONDO:0010401 "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present." "Orphanet:98863 DOID:0070251 ICD10CM:G71.0 UMLS:C2678055 Orphanet:261 OMIM:300696 Orphanet:178461" MONDO:0008643 "OMIM:192400" HP:0001700 "Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction)." "UMLS:C1442837 SNOMEDCT_US:251061000" UBERON:0004058 MONDO:0032642 "Orphanet:565858 OMIM:618265" -MONDO:0015261 "Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation." "ICD10:L66.0 ICD9:704.09 GARD:0004536 SCTID:238731001 Orphanet:129" +MONDO:0015261 "Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation." "ICD9:704.09 GARD:0004536 ICD10CM:L66.0 SCTID:238731001 Orphanet:129" MONDO:0009840 "OMIM:260555 MESH:C536299 UMLS:CN202825 UMLS:C1850075 Orphanet:2829" CHEBI:25555 -MONDO:0011194 "UMLS:C1865868 MESH:C566578 DOID:0110037 ICD10:G30 OMIM:602096" -MONDO:0011303 "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene." "MESH:C538457 Orphanet:93213 DOID:0111128 OMIM:603278 ICD10:N04.1" +MONDO:0011194 "UMLS:C1865868 MESH:C566578 DOID:0110037 OMIM:602096 ICD10CM:G30" +MONDO:0011303 "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene." "MESH:C538457 Orphanet:93213 ICD10CM:N04.1 DOID:0111128 OMIM:603278" UBERON:0005257 ECTO:0000650 "An exposure to Bronsted acid." MONDO:0002548 "A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies." "DOID:3196 SCTID:404026003 NCIT:C4724 ONCOTREE:CSCHW UMLS:C0431124 ICD9:215.9" -MONDO:0003210 "A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." "EFO:1001961 GARD:0006042 SCTID:109842005 ONCOTREE:IHCH NCIT:C35417 MESH:D018281 DOID:4928 UMLS:C0345905 ICD10:C22.1" +MONDO:0003210 "A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." "EFO:1001961 GARD:0006042 SCTID:109842005 ONCOTREE:IHCH NCIT:C35417 MESH:D018281 DOID:4928 UMLS:C0345905" CHEBI:75600 "A ligase inhibitor that interferes with the action of a C-N bond-forming ligase (EC 6.3.*.*)." MONDO:0032641 "OMIM:618264" NCBITaxon:36330 "PMID:20380562 GC_ID:1" -MONDO:0011010 "Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia." "UMLS:C1832661 OMIM:601186 ICD10:Q11.2 SCTID:722458000 DOID:0050819 OMIM:615524 GARD:0000713 DOID:0111807 Orphanet:2470 MESH:C537768 Orphanet:98938" -MONDO:0012393 "UMLS:C1864910 OMIM:610015 GARD:0009848 ICD10:E72.8 Orphanet:71278 MESH:C536832" +MONDO:0011010 "Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia." "UMLS:C1832661 OMIM:601186 SCTID:722458000 ICD10CM:Q11.2 DOID:0050819 OMIM:615524 GARD:0000713 DOID:0111807 Orphanet:2470 MESH:C537768 Orphanet:98938" +MONDO:0012393 "UMLS:C1864910 ICD10CM:E72.8 OMIM:610015 GARD:0009848 Orphanet:71278 MESH:C536832" NCBITaxon:36596 "GC_ID:1" MONDO:0020818 "Dentin formed by normal pulp after completion of root end formation." "SCTID:59818004 MESH:D003809 UMLS:C0011434" UBERON:0010183 ECTO:0000750 "An exposure to biomarker." http://identifiers.org/hgnc/26270 MONDO:0024351 -MONDO:0013512 "Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia." "ICD10:D56.0 Orphanet:93616 NCIT:C95504 MedDRA:10063435 OMIM:613978 DOID:0110031 UMLS:C3161174 ICD9:282.49 UMLS:C0002312 SCTID:48553001" +MONDO:0013512 "Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia." "Orphanet:93616 NCIT:C95504 MedDRA:10063435 OMIM:613978 DOID:0110031 ICD10CM:D56.0 UMLS:C3161174 ICD9:282.49 UMLS:C0002312 SCTID:48553001" UBERON:0035597 MONDO:0014348 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene." "OMIM:615802 UMLS:C4014343" -MONDO:0012856 "Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing)." "GARD:0010358 DOID:0050675 OMIM:612292 SCTID:764861005 MESH:C567357 UMLS:C2676770 ICD10:Q87.8 Orphanet:166108" +MONDO:0012856 "Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing)." "GARD:0010358 DOID:0050675 OMIM:612292 SCTID:764861005 MESH:C567357 UMLS:C2676770 ICD10CM:Q87.8 Orphanet:166108" HP:0002814 "An abnormality of the leg." "SNOMEDCT_US:449715001 UMLS:C1096086" MONDO:0060589 "OMIM:617732 UMLS:C4540277" -MONDO:0016078 "Orphanet:2039 ICD10:Q27.3" +MONDO:0016078 "ICD10CM:Q27.3 Orphanet:2039" MONDO:0004535 "A non-gestational choriocarcinoma that arises from the ovary and occurs in children." "NCIT:C6549 UMLS:C1332987 DOID:8336" UBERON:0005250 -MONDO:0000463 "Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression." "MESH:C536480 ICD10:N31.8 DOID:0050816 SCTID:236533008 OMIMPS:236730 Orphanet:2704 GARD:0000104 OMIM:615112 OMIM:236730" +MONDO:0000463 "Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression." "MESH:C536480 DOID:0050816 SCTID:236533008 OMIMPS:236730 Orphanet:2704 GARD:0000104 OMIM:615112 ICD10CM:N31.8 OMIM:236730" MONDO:0005754 "A generalized tonic-clonic seizure." "ICD9:345.10 SCTID:352818000 MESH:D004830 DOID:7725 NCIT:C3022 EFO:0007262 UMLS:C0014549" -MONDO:0015713 "UMLS:C0342544 NCIT:C120372 Orphanet:169615 ICD9:259.1 ICD10:E22.8 SCTID:237817008" -MONDO:0015979 "Orphanet:183710 ICD10:D84.8" -MONDO:0014529 "EFO:0009030 UMLS:C4015495 Orphanet:444072 OMIM:616202 UMLS:CN221667 ICD10:Q87.0" +MONDO:0015713 "UMLS:C0342544 ICD10CM:E22.8 NCIT:C120372 Orphanet:169615 ICD9:259.1 SCTID:237817008" +MONDO:0015979 "Orphanet:183710 ICD10CM:D84.8" +MONDO:0014529 "EFO:0009030 UMLS:C4015495 Orphanet:444072 OMIM:616202 UMLS:CN221667 ICD10CM:Q87.0" UBERON:0003953 GO:0017168 "Catalysis of the reaction: 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate." MONDO:0008649 "OMIM:192700 UMLS:C1860465 MESH:C566004" -MONDO:0012215 "A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years." "OMIM:609200 SCTID:719985001 DOID:0110300 MESH:C563775 Orphanet:266 SCTID:765196004 ICD10:G71.0 UMLS:C1834659 UMLS:C1836607 Orphanet:98911 GARD:0010229 DOID:0080094 OMIM:159000 ICD10:G71.8 MESH:C535906" -MONDO:0015538 "A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable." "NCIT:C81767 UMLS:C2825741 ONCOTREE:IDCT ICD10:D76.3 SCTID:721313009 Orphanet:158019" -MONDO:0011728 "Involuntary twitching of the eyelid." "ICD10:G24.5 DOID:529 SCTID:59026006 NCIT:C118723 OMIM:606798 ICD9:333.81 MESH:D001764 UMLS:C0005747 GARD:0005909" +MONDO:0012215 "A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years." "OMIM:609200 SCTID:719985001 DOID:0110300 MESH:C563775 Orphanet:266 SCTID:765196004 UMLS:C1834659 UMLS:C1836607 Orphanet:98911 GARD:0010229 DOID:0080094 OMIM:159000 ICD10CM:G71.0 MESH:C535906 ICD10CM:G71.8" +MONDO:0015538 "A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable." "NCIT:C81767 UMLS:C2825741 ONCOTREE:IDCT ICD10CM:D76.3 SCTID:721313009 Orphanet:158019" +MONDO:0011728 "Involuntary twitching of the eyelid." "DOID:529 SCTID:59026006 NCIT:C118723 ICD10CM:G24.5 OMIM:606798 ICD9:333.81 MESH:D001764 UMLS:C0005747 GARD:0005909" UBERON:0001558 ENVO:00000019 "A lake whose water contains a considerable concentration of dissolved salts." MONDO:0011679 "Autosomal recessive form of craniosynostosis." "OMIM:606529 MESH:C564700 UMLS:C1847865" UBERON:0005251 -MONDO:0016077 "MESH:C537782 ICD10:Q21.4 GARD:0000738 UMLS:C2931610 Orphanet:2037" +MONDO:0016077 "MESH:C537782 GARD:0000738 UMLS:C2931610 Orphanet:2037" MONDO:0023154 "UMLS:C0796000 GARD:0000309 SCTID:715432009" -MONDO:0001541 "A peripheral nerve lesion that involves the plantar nerve." "ICD10:G57.60 ICD9:355.6 ICD10:G57.6 UMLS:C0154752 SCTID:193148004 DOID:12524" +MONDO:0001541 "A peripheral nerve lesion that involves the plantar nerve." "ICD9:355.6 UMLS:C0154752 SCTID:193148004 DOID:12524" CL:0000239 MONDO:0015978 "SCTID:105600002 Orphanet:183681" MONDO:0012025 "Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene." "OMIM:608389 MESH:C564248 Orphanet:52429 UMLS:C1842124" @@ -26085,16 +26067,16 @@ UBERON:0001557 UBERON:0004053 http://identifiers.org/hgnc/11547 CHEBI:25558 -MONDO:0017304 "Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity." "MESH:D016117 DOID:0050633 MedDRA:10065276 SCTID:26399002 Orphanet:284804 ICD10:E70.3 HP:0001107 ICD9:270.2" +MONDO:0017304 "Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity." "MESH:D016117 DOID:0050633 MedDRA:10065276 ICD10CM:E70.3 SCTID:26399002 Orphanet:284804 HP:0001107 ICD9:270.2" NCBITaxon:41283 "GC_ID:1" MONDO:0019491 "OBSOLETE. Rare intellectual disability." "Orphanet:87277 UMLS:CN227638" MONDO:0008422 "Autosomal dominant form of sideroblastic anemia." "OMIM:182170 DOID:0060335 MESH:C567160 UMLS:C2674249" -MONDO:0016114 "A bulbospinal muscular atrophy that occurs during childhood." "ICD10:G12.2 Orphanet:206704" +MONDO:0016114 "A bulbospinal muscular atrophy that occurs during childhood." "ICD10CM:G12.2 Orphanet:206704" CHEBI:46964 "A 2-aminooctadecene-1,3-diol having its double bond at position 4." MONDO:0016076 MONDO:0044324 "Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017})." "OMIM:617694 UMLS:CN502749" MONDO:0017273 "Orphanet:281241 UMLS:CN202794" -MONDO:0015711 "ICD10:D80.6 Orphanet:169443" +MONDO:0015711 "Orphanet:169443" NCBITaxon:111520 "GC_ID:1" GO:0032370 "Any process that activates or increases the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." CHEBI:28965 "A carboxylic acid dianion obtained by deprotonation of both carboxy groups of any dicarboxylic acid." @@ -26108,7 +26090,7 @@ HP:0000790 "The presence of blood in the urine. Hematuria may be gross hematuria MONDO:0001895 "Acute form of retrobulbar neuritis." "SCTID:51604006 ICD9:377.32 UMLS:C0155301 DOID:14155" MONDO:0009844 "MESH:C538352 UMLS:C1850052 Orphanet:2837 GARD:0004267 OMIM:260650" HP:0005262 "UMLS:C4025225" -MONDO:0008947 "A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." "HP:0002135 OMIM:616413 ICD9:333.0 OMIM:114100 ICD10:G23.8 MESH:C536275 OMIM:606656 ICD9:348.89 SCTID:230311004 OMIM:213600 UMLS:CN852731 DOID:0060230 Orphanet:1980 UMLS:C0393590 SCTID:110997000 MedDRA:10059626 OMIMPS:213600 OMIM:615007 UMLS:C0393589 OMIM:615483" +MONDO:0008947 "A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." "HP:0002135 OMIM:616413 ICD9:333.0 OMIM:114100 MESH:C536275 OMIM:606656 ICD9:348.89 SCTID:230311004 OMIM:213600 UMLS:CN852731 DOID:0060230 Orphanet:1980 UMLS:C0393590 ICD10CM:G23.8 SCTID:110997000 MedDRA:10059626 OMIMPS:213600 OMIM:615007 UMLS:C0393589 OMIM:615483" MONDO:0017918 "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition." "MESH:C536701 UMLS:C2931292 GARD:0005560 Orphanet:3207" MONDO:0006199 "A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." "EFO:1000242 NCIT:C40156 UMLS:CN201056" GO:1900402 "OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of carbohydrate metabolic process." @@ -26120,15 +26102,15 @@ HP:0005372 "An abnormality of the physiological functioning of B cells." "UMLS:C MONDO:0017274 CHEBI:78295 "A physiological role played by any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants." MONDO:0008646 -MONDO:0015976 "OMIM:608184 OMIM:605258 Orphanet:183666 UMLS:CN200573 OMIM:608106 ICD10:D80.5" +MONDO:0015976 "OMIM:608184 ICD10CM:D80.5 OMIM:605258 Orphanet:183666 UMLS:CN200573 OMIM:608106" MONDO:0015710 "Orphanet:169361 UMLS:CN200214" -MONDO:0006700 "A malignant neoplasm involving the optic choroid." "DOID:12759 EFO:1000866 MESH:D002830 NCIT:C3566 ICD10:C69.3 SCTID:363466008 ICD9:190.6 MedDRA:10057405 NCIT:C2949" +MONDO:0006700 "A malignant neoplasm involving the optic choroid." "DOID:12759 EFO:1000866 MESH:D002830 NCIT:C3566 SCTID:363466008 ICD9:190.6 MedDRA:10057405 NCIT:C2949" GO:0032218 "The directed movement of riboflavin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins." UBERON:0010187 -MONDO:0005664 "An infectious disease produced by bacteria of the genus Bartonella." "NCIT:C84586 UMLS:C0004771 ICD10:A44.9 ICD10:A44 EFO:0007166 SCTID:266123003 MESH:D001474 DOID:11102 ICD9:088.0" +MONDO:0005664 "An infectious disease produced by bacteria of the genus Bartonella." "NCIT:C84586 UMLS:C0004771 EFO:0007166 SCTID:266123003 MESH:D001474 DOID:11102 ICD10CM:A44 ICD9:088.0" MONDO:0018405 "OBSOLETE. An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." "Orphanet:399983 UMLS:CN227350" -MONDO:0019529 "A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation." "ICD10:G97.8 Orphanet:90021 SCTID:26037005 ICD9:336.8" -MONDO:0017723 "A Sandhoff disease that occurs in an adult." "Orphanet:309169 ICD10:E75.0 OMIM:268800 UMLS:CN203619" +MONDO:0019529 "A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation." "ICD10CM:G97.8 Orphanet:90021 SCTID:26037005 ICD9:336.8" +MONDO:0017723 "A Sandhoff disease that occurs in an adult." "Orphanet:309169 ICD10CM:E75.0 OMIM:268800 UMLS:CN203619" UBERON:0011120 CL:0002631 MONDO:0017271 "UMLS:CN202792 Orphanet:281222" @@ -26138,51 +26120,51 @@ MONDO:0016074 GO:0070873 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving glycogen." MONDO:0003768 "A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells." "UMLS:C1516424 NCIT:C40205 ONCOTREE:SCEMU DOID:6101" NCBITaxon:29263 "GC_ID:1" -MONDO:0015975 "UMLS:CN200572 OMIM:606843 ICD10:D80.5 OMIM:308230 Orphanet:183663" +MONDO:0015975 "ICD10CM:D80.5 UMLS:CN200572 OMIM:606843 OMIM:308230 Orphanet:183663" MONDO:0014590 "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene." "Orphanet:98914 Orphanet:590 DOID:0110683 OMIM:616330 UMLS:C4225364" ENVO:02000108 MONDO:0000335 "A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy." "DOID:0050490" -MONDO:0014657 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene." "OMIM:616481 ICD10:Q34.8 Orphanet:244 UMLS:C4225311 DOID:0110603" +MONDO:0014657 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene." "OMIM:616481 Orphanet:244 UMLS:C4225311 DOID:0110603" HP:0002015 "Difficulty in swallowing." "SNOMEDCT_US:40739000 MSH:D003680 UMLS:C0011168 MEDDRA:10013950 SNOMEDCT_US:288939007" UBERON:0001554 -MONDO:0018865 "Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed." "OMIM:607654 UMLS:CN205191 OMIM:148700 SCTID:764958008 ICD10:Q82.8 Orphanet:50942 OMIM:612908" +MONDO:0018865 "Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed." "OMIM:607654 ICD10CM:Q82.8 UMLS:CN205191 OMIM:148700 SCTID:764958008 Orphanet:50942 OMIM:612908" UBERON:0010188 CL:0002148 "A cell found within the dental pulp." "CALOHA:TS-0195 FMA:87170 BTO:0000339" MONDO:0023157 "GARD:0002333" MONDO:0020657 "NCIT:C27683" -MONDO:0002462 "A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies." "MESH:D005921 ICD9:583.9 UMLS:C0017658 NCIT:C26784 SCTID:36171008 GARD:0006516 DOID:2921 ICD10:N05 HP:0000099 ICD10:N08" +MONDO:0002462 "A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies." "MESH:D005921 ICD9:583.9 UMLS:C0017658 NCIT:C26784 SCTID:36171008 GARD:0006516 DOID:2921 HP:0000099" MONDO:0024611 "A benign or malignant neoplasm that affects the orbit." "NCIT:C3290" http://identifiers.org/hgnc/9449 MONDO:0024934 "Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates)." "UMLS:C0016154 MESH:D005393" UBERON:0018415 -MONDO:0009340 "Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia." "GARD:0003672 Orphanet:90031 MESH:C562995 OMIM:235700 ICD10:D55.2" -MONDO:0003061 "A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue." "MESH:D009214 NCIT:C4063 MESH:D009379 DOID:2691 ICD10:D21 ICDO:8895/0 NCIT:C4882 DOID:461" +MONDO:0009340 "Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia." "GARD:0003672 ICD10CM:D55.2 Orphanet:90031 MESH:C562995 OMIM:235700" +MONDO:0003061 "A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue." "MESH:D009214 NCIT:C4063 MESH:D009379 DOID:2691 ICDO:8895/0 NCIT:C4882 DOID:461" GO:0007147 "The cell cycle process in which the second meiotic division occurs in the female germline." UBERON:0000358 CL:0002632 -MONDO:0024356 "ICD10:G47.31 SCTID:9741000119101 ICD9:327.21 UMLS:C0751762" -MONDO:0011055 "Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13." "ICD10:Q93.5 UMLS:C1832431 UMLS:C4304502 GARD:0001323 Orphanet:1580 MESH:C563337 OMIM:601362 SCTID:719686003 NCIT:C130982" +MONDO:0024356 "ICD10CM:G47.31 SCTID:9741000119101 ICD9:327.21 UMLS:C0751762" +MONDO:0011055 "Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13." "SCTID:719686003 MESH:C563337 UMLS:C4304502 OMIM:601362 UMLS:C1832431 GARD:0001323 Orphanet:1580 ICD10CM:Q93.5 NCIT:C130982" MONDO:0100070 "A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli." MONDO:0017272 "Orphanet:281238 UMLS:CN202793" -MONDO:0019797 "Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay." "OMIM:614613 OMIM:101800 MESH:C538179 SCTID:66758006 UMLS:C0220659 DOID:14669 ICD10:Q75.4 GARD:0005724 OMIMPS:101800 ICD9:756.59 Orphanet:950" +MONDO:0019797 "Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay." "OMIM:614613 OMIM:101800 MESH:C538179 SCTID:66758006 UMLS:C0220659 ICD10CM:Q75.4 DOID:14669 GARD:0005724 OMIMPS:101800 ICD9:756.59 Orphanet:950" MONDO:0006193 "Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." "NCIT:C40157 EFO:1000234 SCTID:134031000119108 ICD9:621.34" MONDO:0004221 "A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall." "NCIT:C40180 ONCOTREE:UPECOMA UMLS:C1519862 DOID:7437" MONDO:0060583 "UMLS:C4540232 OMIM:617718" MONDO:0100438 "A retinopathy caused by biallelic variants in the AIPL1 gene." HP:0001274 "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." "UMLS:C0175754 Fyler:4321 MSH:D061085 SNOMEDCT_US:5102002" MONDO:0004110 "Hairy cell leukemia that is resistant to treatment." "UMLS:C0279780 DOID:711 NCIT:C8030" -MONDO:0015623 "Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis." "Orphanet:165958 SCTID:764811001 ICD10:B87.8" +MONDO:0015623 "Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis." "Orphanet:165958 SCTID:764811001 ICD10CM:B87.8" MONDO:0014038 "Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene." "OMIM:615083" MONDO:0002731 "A cancer that involves the cerebral hemisphere." "DOID:368 ICD9:191.8 NCIT:C4577 SCTID:126953009 NCIT:C4874 SCTID:429033009" -MONDO:0008795 "Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability." "OMIM:206700 DOID:0111578 UMLS:C0431401 MESH:C536370 SCTID:253176002 GARD:0000013 Orphanet:1065 ICD9:759.89 ICD10:G11.0" +MONDO:0008795 "Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability." "OMIM:206700 DOID:0111578 UMLS:C0431401 MESH:C536370 SCTID:253176002 GARD:0000013 Orphanet:1065 ICD10CM:G11.0 ICD9:759.89" UBERON:0010189 -MONDO:0008652 "Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." "Orphanet:178382 ICD10:Q66.8 DOID:0111568 MESH:C536345 GARD:0005488 MedDRA:10066242 SCTID:205082007 ICD9:755.67 OMIM:192950" +MONDO:0008652 "Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." "Orphanet:178382 DOID:0111568 MESH:C536345 GARD:0005488 MedDRA:10066242 ICD10CM:Q66.8 SCTID:205082007 ICD9:755.67 OMIM:192950" MONDO:0020658 "DOID:6845" MONDO:0001593 "A disease that involves the rectum." "MESH:D012002 ICD9:569.49 DOID:1285 SCTID:5964004 UMLS:C0034882" GO:0006915 "A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died." GO:0097485 "The process in which the migration of a neuron projection is directed to a specific target site in response to a combination of attractive and repulsive cues." MONDO:0004845 "A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring." "ICD9:528.2 DOID:9663 GARD:0005834 MESH:D013281 NCIT:C62546 SCTID:427617000" -MONDO:0011723 "Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities." "OMIM:606773 Orphanet:141148 GARD:0010084 SCTID:699420006 ICD10:Q67.4 ICD9:744.89 MESH:C535862" +MONDO:0011723 "Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities." "OMIM:606773 Orphanet:141148 ICD10CM:Q67.4 GARD:0010084 SCTID:699420006 ICD9:744.89 MESH:C535862" MONDO:0001977 "A lymphoma that involves the ureter." "NCIT:C6175 DOID:14489 UMLS:C1336876" MONDO:0005197 "A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma." "OMIM:274230 ONCOTREE:THYMUS Orphanet:100100 ICD9:239.89 SCTID:127231009 UMLS:C3714644 NCIT:C3412 EFO:0002626" MONDO:0009880 "Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25)." "UMLS:C2678408 OMIM:262700 GARD:0010604 MESH:C567492 Orphanet:85442" @@ -26192,8 +26174,8 @@ MONDO:0015973 MONDO:0013002 "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene." "UMLS:C1423873 OMIM:612775 DOID:0111020" MONDO:0023155 "GARD:0002329" http://identifiers.org/hgnc/14048 -MONDO:0007176 "Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." "UMLS:C1862382 SCTID:724384008 MESH:C566236 DOID:0111228 ICD10:H31.2 Orphanet:86813 OMIM:108985" -MONDO:0008401 "A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma)." "EFO:1000384 OMIM:181030 ICD10:D11.0 ICDO:8940/0 DOID:452 Orphanet:454821 NCIT:C8602 MESH:D008949 SCTID:447888006" +MONDO:0007176 "Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." "UMLS:C1862382 SCTID:724384008 MESH:C566236 DOID:0111228 Orphanet:86813 OMIM:108985 ICD10CM:H31.2" +MONDO:0008401 "A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma)." "EFO:1000384 OMIM:181030 ICDO:8940/0 ICD10CM:D11.0 DOID:452 Orphanet:454821 NCIT:C8602 MESH:D008949 SCTID:447888006" GO:0046873 "Enables the transfer of metal ions from one side of a membrane to the other." UBERON:0001556 MONDO:0021979 "A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region." "GARD:0000833 MESH:C537660 UMLS:C2931577" @@ -26204,9 +26186,9 @@ GO:0045187 "Any process that modulates the frequency, rate or extent of sleep; a CL:0000237 CL:2000033 "Any basal cell of epidermis that is part of a limb." MONDO:0017270 "UMLS:CN202791 Orphanet:281217" -MONDO:0010043 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene." "DOID:0110770 OMIM:270685 MESH:C536644 Orphanet:100998 UMLS:CN074197 GARD:0004219 UMLS:C2931276 ICD10:G11.4" +MONDO:0010043 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene." "ICD10CM:G11.4 DOID:0110770 OMIM:270685 MESH:C536644 Orphanet:100998 UMLS:CN074197 GARD:0004219 UMLS:C2931276" MONDO:0014484 "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene." "OMIM:616080 DOID:0070284 UMLS:C4015156" -MONDO:0019675 "A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment." "Orphanet:93359 OMIMPS:271640 GARD:0004982 SCTID:254100000 ICD10:Q77.7 ICD9:719.80 ICD9:756.9 OMIM:271640 DOID:0112197 MESH:C562968" +MONDO:0019675 "A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment." "Orphanet:93359 OMIMPS:271640 GARD:0004982 SCTID:254100000 ICD9:719.80 ICD10CM:Q77.7 ICD9:756.9 OMIM:271640 DOID:0112197 MESH:C562968" GO:0047045 "Catalysis of the reaction: NADP+ + testosterone = NADPH + H+ + androst-4-ene-3,17-dione." MONDO:0060585 "UMLS:C4540265 OMIM:617721 DOID:0111212" ENVO:02000109 @@ -26220,101 +26202,100 @@ NCBITaxon:28901 "PMID:15653930 GC_ID:11 PMID:10319519 PMID:10939679 PMID:156539 MONDO:0014802 "Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene." "OMIM:616858 UMLS:C4225179" MONDO:0002527 "A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin." "UMLS:C0022572 DOID:3149 SCTID:254662007 MESH:D007636 NCIT:C3146 ICDO:8071/1" MONDO:0004472 "An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified." "UMLS:C1511305 DOID:8130 NCIT:C40355" -MONDO:0020520 "Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions." "ICD10:J84.82 SCTID:328611000119105 NCIT:C142833 UMLS:C1455705 UMLS:C3161104 Orphanet:99874 ICD10:C96.5" +MONDO:0020520 "Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions." "SCTID:328611000119105 NCIT:C142833 UMLS:C1455705 UMLS:C3161104 Orphanet:99874 ICD10CM:J84.82 ICD10CM:C96.5" MONDO:0033483 "Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene." "DOID:0080290 OMIM:617907 UMLS:CN873435" MONDO:0016099 "Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature." "Orphanet:206572" MONDO:0042485 "The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." "NCIT:C26700 GARD:0006781" http://identifiers.org/hgnc/26019 -MONDO:0018954 "Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum." "UMLS:C2697932 Orphanet:60030 OMIM:614816 ICD10:Q87.4 OMIMPS:609192 OMIM:610168 NCIT:C75006 SCTID:446263001 GARD:0010788 MESH:D055947 DOID:0050466 OMIM:609192 ICD9:759.89 OMIM:613795" +MONDO:0018954 "Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum." "UMLS:C2697932 Orphanet:60030 OMIM:614816 OMIMPS:609192 OMIM:610168 NCIT:C75006 SCTID:446263001 GARD:0010788 MESH:D055947 DOID:0050466 OMIM:609192 ICD10CM:Q87.4 ICD9:759.89 OMIM:613795" UBERON:0000353 GO:0051173 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds." -MONDO:0014520 "Orphanet:444048 UMLS:C4015409 OMIM:616185 DOID:0080496 ICD10:Q96.8" +MONDO:0014520 "Orphanet:444048 UMLS:C4015409 OMIM:616185 DOID:0080496 ICD10CM:Q96.8" MONDO:0013322 "DOID:0111695 MESH:C567098 Orphanet:86814 OMIM:613608 UMLS:C3150860" CL:0002573 "A glial cell that ensheathes axons of neuron in the peripheral nervous system and are necessary for their maintainance and function." "BTO:0001220 CALOHA:TS-0898" MONDO:0000144 MONDO:0011639 "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene." "UMLS:C4225411 OMIM:606164 UMLS:C1853576 Orphanet:124" -MONDO:0019503 "A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis)." "Orphanet:88632 OMIM:107250 SCTID:65075004 OMIM:617319 GARD:0010025 ICD9:743.49 ICD10:Q13.8 OMIMPS:107250 OMIM:617315" +MONDO:0019503 "A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis)." "Orphanet:88632 OMIM:107250 SCTID:65075004 OMIM:617319 GARD:0010025 ICD10CM:Q13.8 ICD9:743.49 OMIMPS:107250 OMIM:617315" MONDO:0017017 "UMLS:CN202329 Orphanet:264683" -MONDO:0016839 "Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly." "Orphanet:261257 UMLS:CN202175 SCTID:764696007 ICD10:Q93.5" +MONDO:0016839 "Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly." "ICD10CM:Q93.5 UMLS:CN202175 SCTID:764696007 Orphanet:261257" GO:0099531 "The pathway leading to secretion of a neurotransmitter from the presynapse as part of synaptic transmission." NCBITaxon:41011 "GC_ID:1" MONDO:0015777 "A hypothyroidism that occurs in an adult." "UMLS:CN226738 Orphanet:177101" MONDO:0020665 "NCIT:C36046" MONDO:0014787 "UMLS:C4225193 Orphanet:466688 OMIM:616819" -MONDO:0018216 "OMIM:610443 UMLS:CN204740 SCTID:717338006 DOID:0050880 MESH:C566476 DOID:0070076 ICD10:Q93.5 UMLS:C1864871 Orphanet:363958" +MONDO:0018216 "OMIM:610443 UMLS:CN204740 SCTID:717338006 ICD10CM:Q93.5 DOID:0050880 MESH:C566476 DOID:0070076 UMLS:C1864871 Orphanet:363958" GO:0000805 CL:2000059 "Any microvascular endothelial cell that is part of a prostate gland." -MONDO:0019570 "Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6." "Orphanet:90321 UMLS:C0751038 GARD:0001420 NCIT:C135726 OMIM:216400 ICD10:Q87.8 OMIM:133540 Orphanet:191 Orphanet:90322 Orphanet:90324" +MONDO:0019570 "Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6." "Orphanet:90321 ICD10CM:Q87.8 UMLS:C0751038 GARD:0001420 NCIT:C135726 OMIM:216400 OMIM:133540 Orphanet:191 Orphanet:90322 Orphanet:90324" http://identifiers.org/hgnc/11540 MONDO:0000620 "A non-metastasizing neoplasm arising from the breast parenchyma." "ICD9:217 NCIT:C4505 SCTID:269485000 DOID:0060082" -MONDO:0001485 "A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite (\"comfort eating\"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection." "ICD10:F32.8 ICD9:296.82 SCTID:191659001 DOID:12294" +MONDO:0001485 "A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite (\"comfort eating\"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection." "ICD9:296.82 SCTID:191659001 DOID:12294" MONDO:0006975 "A benign or malignant myomatous neoplasm arising from smooth muscle." "MESH:D018235 DOID:4310 NCIT:C3751 EFO:1001185 UMLS:C0206658" -MONDO:0016204 "Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining." "ICD10:K74.6 OMIM:215600 SCTID:715864007 Orphanet:209919" +MONDO:0016204 "Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining." "OMIM:215600 SCTID:715864007 Orphanet:209919 ICD10CM:K74.6" MONDO:0013073 "Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene." "OMIM:613000 DOID:0111709" -MONDO:0016919 "Orphanet:262173 ICD10:Q93.5" -MONDO:0009367 "McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations." "GARD:0003427 DOID:0111255 ICD10:Q87.8 OMIM:236700 SCTID:702407009 UMLS:C0948368 MedDRA:10052312 Orphanet:2473 ICD9:758.89 MESH:C538159" +MONDO:0016919 "Orphanet:262173 ICD10CM:Q93.5" +MONDO:0009367 "McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations." "GARD:0003427 DOID:0111255 OMIM:236700 SCTID:702407009 UMLS:C0948368 ICD10CM:Q87.8 MedDRA:10052312 Orphanet:2473 ICD9:758.89 MESH:C538159" GO:0007613 "The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task)." MONDO:0004077 "A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine." "DOID:7017 UMLS:C1334438 NCIT:C6500" NCBITaxon:41012 "GC_ID:1" -MONDO:0001876 "A atherosclerosis that involves the renal artery." "UMLS:C0155734 ICD10:I70.1 DOID:14092 SCTID:45281005 ICD9:440.1" +MONDO:0001876 "A atherosclerosis that involves the renal artery." "UMLS:C0155734 DOID:14092 SCTID:45281005 ICD10CM:I70.1 ICD9:440.1" MONDO:0000143 MONDO:0014522 "Orphanet:791 UMLS:C4015424 OMIM:616188" -MONDO:0019799 "Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria characterized by bullous photodermatitis." "Orphanet:95159 NCIT:C84754 SCTID:111386004 UMLS:C0162569 DOID:5230 ICD10:E80.2 GARD:0006169 MESH:D017121 OMIM:176100" +MONDO:0019799 "Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria characterized by bullous photodermatitis." "Orphanet:95159 NCIT:C84754 SCTID:111386004 UMLS:C0162569 DOID:5230 GARD:0006169 MESH:D017121 OMIM:176100 ICD10CM:E80.2" ENVO:09000017 "The concentration of a nitrogen atom when measured in soil." MONDO:0006094 "A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma." "DOID:0050608 UMLS:C0877849 EFO:1000095 NCIT:C7542 ICDO:9365/3" MONDO:0100441 "A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene." http://identifiers.org/hgnc/19191 -MONDO:0005233 "A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy." "Orphanet:488201 EFO:0003060 HP:0030358 UMLS:C0007131 KEGG:05223 ICD10:C34 MESH:D002289 NCIT:C2926 DOID:3908 SCTID:254637007 OMIM:211980 ONCOTREE:NSCLC" +MONDO:0005233 "A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy." "Orphanet:488201 EFO:0003060 HP:0030358 UMLS:C0007131 KEGG:05223 MESH:D002289 NCIT:C2926 DOID:3908 SCTID:254637007 OMIM:211980 ONCOTREE:NSCLC" MONDO:0003675 "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart." "NCIT:C35672 DOID:5851" MONDO:0009277 "An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1." "Orphanet:98976 OMIM:231300 Orphanet:98977 DOID:11211 NCIT:C148260 ICD9:743.21" CL:0000809 "A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors." UBERON:0000351 -MONDO:0013324 "Orphanet:99141 UMLS:C3150875 OMIM:613611 ICD10:Q82.0" +MONDO:0013324 "Orphanet:99141 UMLS:C3150875 OMIM:613611 ICD10CM:Q82.0" MONDO:0003943 "A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system." "UMLS:C1708362 NCIT:C6997 DOID:6607" -MONDO:0002602 "A disease involving the central nervous system." "ICD10:G96.9 NCIT:C2934 SCTID:23853001 DOID:331 UMLS:C0007682 MESH:D002493" +MONDO:0002602 "A disease involving the central nervous system." "NCIT:C2934 SCTID:23853001 DOID:331 UMLS:C0007682 MESH:D002493" MONDO:0017015 "GARD:0010559 Orphanet:264665 UMLS:CN202326" -MONDO:0016918 "Orphanet:262164 ICD10:Q93.5" +MONDO:0016918 "Orphanet:262164 ICD10CM:Q93.5" MONDO:0020667 "OMIM:207410" MONDO:0000142 NCBITaxon:41013 "GC_ID:1" GO:0000803 -MONDO:0002277 "A vascular disorder characterized by thickening and hardening of the walls of the arteries." "ICD10:I70 DOID:2349 ICD10:I25.1 NCIT:C35771 UMLS:C3665365 NCIT:C34398 ICD9:440 MESH:D001161 UMLS:C0003850 DOID:2348 CSP:0571-2299 EFO:0009086 NCIT:C34403 MESH:D050197 NCIT:C35768 HP:0002634 SCTID:72092001" +MONDO:0002277 "A vascular disorder characterized by thickening and hardening of the walls of the arteries." "DOID:2349 NCIT:C35771 UMLS:C3665365 NCIT:C34398 ICD9:440 MESH:D001161 UMLS:C0003850 ICD10CM:I70 DOID:2348 CSP:0571-2299 EFO:0009086 NCIT:C34403 MESH:D050197 NCIT:C35768 HP:0002634 SCTID:72092001" HP:0010551 "Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength." "UMLS:C4023792" MONDO:0014523 "OMIM:616192 UMLS:C4015436 Orphanet:445062" MONDO:0014789 "DOID:0070267 Orphanet:468684 OMIM:616828" -MONDO:0005843 "A malignant neoplasm involving the mediastinum" "EFO:0007362 NCIT:C3549 NCIT:C3221 SCTID:126725000 DOID:5559 ICD9:164.9 ICD10:C38.3 SCTID:363494000 MESH:D008479" -MONDO:0014405 "STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation." "Orphanet:425120 UMLS:C4014722 DOID:0111457 OMIM:615934 ICD9:279.8 SCTID:711164003 ICD10:M35.8 UMLS:C4040879 GARD:0012357" +MONDO:0005843 "A malignant neoplasm involving the mediastinum" "EFO:0007362 NCIT:C3549 NCIT:C3221 SCTID:126725000 DOID:5559 ICD9:164.9 SCTID:363494000 MESH:D008479" +MONDO:0014405 "STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation." "Orphanet:425120 UMLS:C4014722 ICD10CM:M35.8 DOID:0111457 OMIM:615934 ICD9:279.8 SCTID:711164003 UMLS:C4040879 GARD:0012357" http://identifiers.org/hgnc/19190 MONDO:0010898 "A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution." "OMIM:616436 Orphanet:101046 GARD:0002257 NCIT:C141441 MESH:C537297 OMIM:616461 DOID:0060748 OMIM:600512 UMLS:C1838062" GO:0000122 "Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II." MONDO:0001419 "A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor." "SCTID:254620000 DOID:12003 NCIT:C4448 UMLS:C0345946 EFO:1000600" GO:0043891 "Catalysis of the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD(P)+ = 3-phospho-D-glyceroyl phosphate + NAD(P)H + H+." MONDO:0017016 "Orphanet:264670 UMLS:CN202327" -MONDO:0016917 "Orphanet:262155 ICD10:Q93.5" +MONDO:0016917 "Orphanet:262155 ICD10CM:Q93.5" MONDO:0020668 "OMIM:600146 GARD:0004917" -MONDO:0014664 "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene." "UMLS:C4084822 DOID:0110992 OMIM:616490 Orphanet:475" +MONDO:0014664 "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene." "DOID:0110992 UMLS:C4084822 OMIM:616490 Orphanet:475" MONDO:0003208 "A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas." "NCIT:C4189 MESH:C537535 ONCOTREE:JSCB GARD:0009408 DOID:4922 UMLS:C0334371 ICDO:8508/3 ICDO:8502/3" -MONDO:0014363 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene." "ICD10:H90.3 UMLS:C3892049 DOID:0110462 OMIM:615837 Orphanet:90636" +MONDO:0014363 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene." "UMLS:C3892049 DOID:0110462 OMIM:615837 Orphanet:90636" MONDO:0100449 "A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene." MONDO:0014656 "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene." "DOID:0111515 UMLS:C4225312 Orphanet:329336 OMIM:616479" -MONDO:0022174 "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12." "NCIT:C36410 Orphanet:316244 UMLS:C0795844 ICD10:Q93.5 MESH:C538302 MESH:C538301 GARD:0006068" -MONDO:0016915 "Orphanet:262137 ICD10:Q93.5" -MONDO:0018477 "SCTID:50143004 DOID:2382 MESH:D007647 MedDRA:10023376 ICD10:P57 Orphanet:415286 GARD:0006830 ICD10:P57.9 EFO:1001002 NCIT:C84799" +MONDO:0022174 "A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12." "UMLS:C0795844 Orphanet:316244 MESH:C538302 NCIT:C36410 ICD10CM:Q93.5 MESH:C538301 GARD:0006068" +MONDO:0016915 "ICD10CM:Q93.5 Orphanet:262137" +MONDO:0018477 "SCTID:50143004 DOID:2382 MESH:D007647 MedDRA:10023376 Orphanet:415286 GARD:0006830 ICD10CM:P57.9 EFO:1001002 NCIT:C84799" CL:2000074 "Any leukocyte that is part of a spleen." -MONDO:0005091 "A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death." "ICD10:U04.9 UMLS:C1175175 NCIT:C85064 MedDRA:10061982 ICD10:J12.81 SCTID:398447004 DOID:2945 Orphanet:140896 MESH:D045169 EFO:0000694 ICD9:079.82 GARD:0009237" +MONDO:0005091 "A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death." "UMLS:C1175175 NCIT:C85064 MedDRA:10061982 SCTID:398447004 DOID:2945 Orphanet:140896 MESH:D045169 EFO:0000694 ICD9:079.82 GARD:0009237" CL:0005024 "A motor neuron that innervates a skeletal muscle. These motor neurons are all excitatory and cholinergic." CHR:9606-chr3q13.31 -MONDO:0019674 "Orphanet:93335 SCTID:715707008 UMLS:C1868120 ICD10:Q69.0 OMIM:174200" -MONDO:0017257 "Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported." "Orphanet:280917 ICD10:H20.0" +MONDO:0019674 "Orphanet:93335 SCTID:715707008 UMLS:C1868120 ICD10CM:Q69.0 OMIM:174200" +MONDO:0017257 "Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported." "Orphanet:280917 ICD10CM:H20.0" GO:0070013 "An organelle lumen that is part of an intracellular organelle." MONDO:0000648 "Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas)." "SCTID:92247009 NCIT:C4789 UMLS:C0497550 ICD9:225.8 ICD9:225.9 DOID:0060115" MONDO:0003773 "A cystic meningioma that grows within the cerebral hemispheres." "DOID:6113 UMLS:C1334236 NCIT:C5269" MONDO:0016916 -MONDO:0000140 GO:0015291 "Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters." MONDO:0018478 SO:0001877 "A non-coding RNA over 200nucleotides in length." -MONDO:0016914 "ICD10:Q93.5 Orphanet:262128" +MONDO:0016914 "ICD10CM:Q93.5 Orphanet:262128" CL:0000148 "A pigment cell derived from the neural crest. Contains melanin-filled pigment granules, which gives a brown to black appearance." "VHOG:0001679 CALOHA:TS-0613 BTO:0000847 FMA:70545" MONDO:0024360 "SCTID:91441000119109 UMLS:C4075997" MONDO:0012575 "Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene." "UMLS:C1970479 Orphanet:107 DOID:0111424 OMIM:610896" @@ -26322,35 +26303,35 @@ MONDO:0005342 "Inflammation of a specific segment of glomeruli within the kidney MONDO:0002540 "An oligodendroglioma that arises from the central nervous system and occurs during childhood." "DOID:3183 MESH:D009837 UMLS:C0280475 NCIT:C4045" GO:0001505 "Any process that modulates levels of neurotransmitter." CL:0000362 "An epithelial cell of the integument (the outer layer of an organism)." "FMA:62411 CALOHA:TS-0283 BTO:0001470" -MONDO:0013966 "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene." "DOID:0060678 UMLS:C3554047 Orphanet:3286 OMIM:614916 ICD10:I47.2" -MONDO:0019673 "UMLS:C3887487 OMIM:263450 OMIM:607324 ICD10:Q69.0 HP:0005696 OMIM:608562 OMIM:615226 OMIM:602085 OMIM:174200 SCTID:715704001 Orphanet:93334" -MONDO:0015909 "Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors." "ICD10:D61.0 ICD9:284.8 NCIT:C2870 ICD10:D61.3 ICD10:D61.8 Orphanet:182040 ICD9:284.9 ICD10:D61.1 MESH:D000741 ICD10:D61.9 DOID:12449 ICD10:D61.2 SCTID:306058006" +MONDO:0013966 "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene." "DOID:0060678 UMLS:C3554047 Orphanet:3286 OMIM:614916" +MONDO:0019673 "UMLS:C3887487 OMIM:263450 OMIM:607324 HP:0005696 OMIM:608562 OMIM:615226 ICD10CM:Q69.0 OMIM:602085 OMIM:174200 SCTID:715704001 Orphanet:93334" +MONDO:0015909 "Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors." "ICD10CM:D60-D64 ICD9:284.8 NCIT:C2870 Orphanet:182040 ICD10CM:D61.2 ICD10CM:D61.8 ICD10CM:D61.0 ICD9:284.9 MESH:D000741 DOID:12449 ICD10CM:D61.3 ICD10CM:D61.9 ICD10CM:D61.1 SCTID:306058006" MONDO:0012129 "MESH:C563852 GARD:0010065 OMIM:608809 UMLS:C1837329" MONDO:0024476 "A epithelial neoplasm that involves the rectum." NCBITaxon:2572478 "GC_ID:1" -MONDO:0015280 "Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability." "OMIM:615278 OMIM:115150 NCIT:C84617 OMIMPS:115150 OMIM:615279 Orphanet:1340 MESH:C535579 GARD:0009146 ICD10:Q87.8 DOID:0060233 OMIM:615280 SCTID:403770008 UMLS:C1275081" +MONDO:0015280 "Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability." "OMIM:615278 OMIM:115150 NCIT:C84617 OMIMPS:115150 OMIM:615279 Orphanet:1340 MESH:C535579 GARD:0009146 ICD10CM:Q87.8 DOID:0060233 OMIM:615280 SCTID:403770008 UMLS:C1275081" CHEBI:4469 "A 1-phenylpropan-2-amine that has S configuration." MONDO:0014938 "Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene." "OMIM:617142" ENVO:01000406 "Snow is an environmental material which is primarily composed of flakes of crystalline water ice." -MONDO:0018475 "ICD10:G31.8 Orphanet:412066 UMLS:CN237461" +MONDO:0018475 "ICD10CM:G31.8 Orphanet:412066 UMLS:CN237461" GO:0000806 -MONDO:0000736 "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution." "UMLS:C1306229 OMIM:615402 OMIMPS:127500 OMIM:612715 Orphanet:241 ICD10:L81.8 UMLS:C2930995 MESH:C535730 DOID:0060304 SCTID:239082002 GARD:0001996 OMIM:127500" -MONDO:0016913 "Orphanet:262119 GARD:0001746 ICD10:Q93.5 MESH:C538038" +MONDO:0000736 "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution." "UMLS:C1306229 OMIM:615402 ICD10CM:L81.8 OMIMPS:127500 OMIM:612715 Orphanet:241 UMLS:C2930995 MESH:C535730 DOID:0060304 SCTID:239082002 GARD:0001996 OMIM:127500" +MONDO:0016913 "Orphanet:262119 GARD:0001746 ICD10CM:Q93.5 MESH:C538038" NCBITaxon:91888 "GC_ID:1 PMID:12144762" -MONDO:0017011 "Orphanet:263793 ICD10:Q99.8" -MONDO:0019410 "OMIM:259600 Orphanet:85196 UMLS:CN206138 ICD10:M89.5 OMIM:277950" -MONDO:0017277 "ICD10:Q93.5 Orphanet:282124" +MONDO:0017011 "Orphanet:263793 ICD10CM:Q99.8" +MONDO:0019410 "OMIM:259600 Orphanet:85196 UMLS:CN206138 ICD10CM:M89.5 OMIM:277950" +MONDO:0017277 "Orphanet:282124 ICD10CM:Q93.5" http://identifiers.org/hgnc/30858 -MONDO:0020531 "A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy." "GARD:0009700 NCIT:C84537 UMLS:C0220711 MESH:C535690 SCTID:237996001 Orphanet:99900 ICD10:E71.3" +MONDO:0020531 "A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy." "GARD:0009700 ICD10CM:E71.3 NCIT:C84537 UMLS:C0220711 MESH:C535690 SCTID:237996001 Orphanet:99900" http://identifiers.org/hgnc/10345 oboInOwl:Subset MONDO:0002624 "A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells." "DOID:3367 NCIT:C7154 UMLS:C1332579" -MONDO:0005125 "A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." "ICD9:030.3 ICD10:A30.3 DOID:1023 EFO:0001055 UMLS:C0023346 UMLS:C3251797 MESH:D015439 SCTID:400154003" +MONDO:0005125 "A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." "ICD9:030.3 DOID:1023 EFO:0001055 UMLS:C0023346 UMLS:C3251797 MESH:D015439 SCTID:400154003 ICD10CM:A30.3" MONDO:0006325 "A melanoma that arises from the structures of the eye or ocular adnexa." "EFO:1000403 GARD:0007236 DOID:1752 ONCOTREE:OM NCIT:C8562" -MONDO:0000839 "OBSOLETE. Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period." "SCTID:276654001 ICD9:759.89 ICD10:Q00.Q99 MESH:D000013 UMLS:CN232116 EFO:0003915 ICD9:759.9 DOID:0080015 NCIT:C2849" -MONDO:0004782 "A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related." "UMLS:C0011848 NCIT:C43263 ICD10:E23.2 GARD:0011934 DOID:9409 SCTID:15771004 ICD9:253.5 MESH:D003919" +MONDO:0000839 "OBSOLETE. Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period." "SCTID:276654001 ICD9:759.89 MESH:D000013 UMLS:CN232116 EFO:0003915 ICD9:759.9 DOID:0080015 NCIT:C2849" +MONDO:0004782 "A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related." "ICD10CM:E23.2 UMLS:C0011848 NCIT:C43263 GARD:0011934 DOID:9409 SCTID:15771004 ICD9:253.5 MESH:D003919" MONDO:0007932 "An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22." "MESH:C562479 UMLS:C3495438 OMIM:153800 DOID:0110015" -MONDO:0018476 "UMLS:CN237465 ICD10:G24.8 Orphanet:412217" +MONDO:0018476 "UMLS:CN237465 ICD10CM:G24.8 Orphanet:412217" MONDO:0014527 "Orphanet:435953 DOID:0111264 UMLS:C4015461 OMIM:616200" HP:0007663 "SNOMEDCT_US:13164000 UMLS:C0234632" MONDO:0004449 "A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts." "NCIT:C40387 UMLS:C1512935 DOID:8068" @@ -26360,35 +26341,35 @@ GO:0004423 "Catalysis of the hydrolysis of the 2-sulfate groups of the L-idurona MONDO:0017012 "Orphanet:264431" http://identifiers.org/hgnc/30859 ENVO:01001570 "An ecoregion which is located on a landmass." -MONDO:0001797 "Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery." "DOID:13778 UMLS:C0007947 SCTID:266143009 MESH:D002602 ICD10:A57 GARD:0009522 ICD9:099.0" -MONDO:0015714 "ICD10:E22.8 UMLS:CN200226 Orphanet:169618" -MONDO:0006881 "Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary." "EFO:1001076 ICD10:H05.01 MESH:D054517 NCIT:C99000 SCTID:194005002 UMLS:C0149507 DOID:11234 ICD9:376.01 MedDRA:10031036" +MONDO:0001797 "Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery." "DOID:13778 UMLS:C0007947 SCTID:266143009 MESH:D002602 ICD10CM:A57 GARD:0009522 ICD9:099.0" +MONDO:0015714 "UMLS:CN200226 Orphanet:169618 ICD10CM:E22.8" +MONDO:0006881 "Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary." "EFO:1001076 MESH:D054517 NCIT:C99000 SCTID:194005002 UMLS:C0149507 DOID:11234 ICD9:376.01 MedDRA:10031036" MONDO:0044871 "SCTID:230330004 MESH:C566973 OMIM:611284" GO:0010701 "Any process that increases the frequency, rate or extent of the regulated release of norepinephrine." -MONDO:0018213 "Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset." "PMID:18348718 GARD:6635 OMIM:613708 OMIM:162400 Orphanet:36386 OMIM:613640 GARD:0006635 SCTID:397734008 OMIM:615632 DOID:0070162 ICD10:G60.8" +MONDO:0018213 "Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset." "PMID:18348718 GARD:6635 OMIM:613708 OMIM:162400 Orphanet:36386 ICD10CM:G60.8 OMIM:613640 GARD:0006635 SCTID:397734008 OMIM:615632 DOID:0070162" GO:0046005 "Any process that activates or increases the duration or quality of rapid eye movement (REM) sleep." GO:0043234 MONDO:0002880 "A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases." "DOID:4115 UMLS:C1335169 NCIT:C7317" GO:0016798 "Catalysis of the hydrolysis of any glycosyl bond." -MONDO:0005680 "A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii." "ICD9:081.1 EFO:0007182 SCTID:47761007 DOID:11254 ICD10:A75.1 UMLS:C0006181 Orphanet:99990" -MONDO:0007768 "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts." "NCIT:C48287 ICD10:E21.0 GARD:0010829 SCTID:702378002 OMIM:145001 Orphanet:99880 UMLS:C1704981" +MONDO:0005680 "A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii." "ICD9:081.1 EFO:0007182 SCTID:47761007 DOID:11254 UMLS:C0006181 Orphanet:99990" +MONDO:0007768 "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts." "NCIT:C48287 ICD10CM:E21.0 GARD:0010829 SCTID:702378002 OMIM:145001 Orphanet:99880 UMLS:C1704981" MONDO:0015210 "A gastroduodenal malformation that is part of a larger syndrome." "Orphanet:108965 UMLS:CN226627" http://identifiers.org/hgnc/3349 -MONDO:0020093 "Autosomal dominant form of isolated diffuse palmoplantar keratoderma." "Orphanet:98349 ICD10:Q82.8 UMLS:CN229268" -MONDO:0009637 "Myopathy caused by mitochondrial abnormalities." "UMLS:C0162670 ICD10:G71.3 NCIT:C101328 Orphanet:206966 DOID:699 MESH:D017240 OMIM:251900 MedDRA:10027710 GARD:0011956" +MONDO:0020093 "Autosomal dominant form of isolated diffuse palmoplantar keratoderma." "Orphanet:98349 ICD10CM:Q82.8 UMLS:CN229268" +MONDO:0009637 "Myopathy caused by mitochondrial abnormalities." "UMLS:C0162670 Orphanet:206966 NCIT:C101328 ICD10CM:G71.3 DOID:699 MESH:D017240 OMIM:251900 MedDRA:10027710 GARD:0011956" MONDO:0015667 "Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme." "OMIM:601626 NCIT:C27753 Orphanet:167714 GARD:0012760" -MONDO:0009133 "A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia." "GARD:0001998 MESH:C535731 OMIM:615268 DOID:0050997 OMIM:613227 Orphanet:1766 OMIM:224050 ICD10:G11.8 NCIT:C114781 MedDRA:10013140 OMIM:610185 SCTID:230782004 OMIMPS:224050" +MONDO:0009133 "A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia." "GARD:0001998 ICD10CM:G11.8 MESH:C535731 OMIM:615268 DOID:0050997 OMIM:613227 Orphanet:1766 OMIM:224050 NCIT:C114781 MedDRA:10013140 OMIM:610185 SCTID:230782004 OMIMPS:224050" MONDO:0033839 "Orphanet:521127" UBERON:0008846 MONDO:0021235 "A neoplasm (disease) that involves the external ear." "UMLS:C0349575 NCIT:C4652 SCTID:277155005" MONDO:0044787 "A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group." "NCIT:C68611 UMLS:C0280332" UBERON:0012329 MONDO:0011184 "OMIM:602081 SCTID:229703009 GARD:0012889 Orphanet:209908 ICD9:315.39" -MONDO:0010503 "Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene." "DOID:0110147 UMLS:C4310820 ICD10:E26.8 OMIM:300971" +MONDO:0010503 "Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene." "DOID:0110147 UMLS:C4310820 OMIM:300971" MONDO:0024531 "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene." "UMLS:C4011726 OMIM:160565 Orphanet:2593" -MONDO:0001349 "ICD9:521.05 UMLS:C0341004 DOID:11736 SCTID:196305005 ICD10:K02.4" +MONDO:0001349 "ICD9:521.05 UMLS:C0341004 DOID:11736 SCTID:196305005" MONDO:0015958 "OBSOLETE. Rare genetic bone disease." "Orphanet:183524 UMLS:CN200553" -MONDO:0009218 "A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement." "SCTID:79935000 NCIT:C84710 ICD9:272.8 ICD10:E75.2 DOID:0050464 GARD:0006426 UMLS:C0268255 OMIM:228000 MESH:D055577 UMLS:CN204335 Orphanet:333" +MONDO:0009218 "A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement." "SCTID:79935000 NCIT:C84710 ICD9:272.8 DOID:0050464 GARD:0006426 UMLS:C0268255 ICD10CM:E75.2 OMIM:228000 MESH:D055577 UMLS:CN204335 Orphanet:333" CHR:9606-chr16q22 CHR:9606-chr2q3 NCBITaxon:694009 "GC_ID:1" @@ -26397,17 +26378,17 @@ MONDO:0012706 "A temporal lobe epilepsy characterized by autosomal dominant inhe GO:0010565 "Any process that modulates the chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups." MONDO:0024969 "Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary." "UMLS:C0030500 MESH:D010273" MONDO:0016330 "An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual." "Orphanet:217598 UMLS:CN226903" -MONDO:0009046 "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly." "SCTID:204102004 MESH:D058497 GARD:0006465 NCIT:C118436 UMLS:C0265233 Orphanet:2052 ICD10:Q87.0 OMIMPS:219000 DOID:0090001" +MONDO:0009046 "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly." "SCTID:204102004 MESH:D058497 GARD:0006465 NCIT:C118436 ICD10CM:Q87.0 UMLS:C0265233 OMIM:219000 Orphanet:2052 OMIMPS:219000 DOID:0090001" GO:0044699 MONDO:0033838 "Orphanet:521123" GO:0043025 "The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites." GO:0071073 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids." http://identifiers.org/hgnc/24717 -MONDO:0005498 "A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure." "EFO:0005542 SCTID:398565003 SCTID:398530003 CSP:5000-0060 GARD:0000943 NCIT:C84599 UMLS:C0006057 DOID:11976 MESH:D001906 MedDRA:10006041 ICD10:A05.1 Orphanet:1267 SCTID:398523009" +MONDO:0005498 "A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure." "EFO:0005542 SCTID:398565003 SCTID:398530003 CSP:5000-0060 GARD:0000943 NCIT:C84599 UMLS:C0006057 DOID:11976 MESH:D001906 MedDRA:10006041 Orphanet:1267 SCTID:398523009" HP:0000090 "Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis." "SNOMEDCT_US:204958008 UMLS:C0687120" MONDO:0011187 "MESH:C566585 UMLS:C1865883 OMIM:602085 Orphanet:93334" MONDO:0001348 -MONDO:0010930 "Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." "OMIM:600776 ICD10:Q87.8 MESH:C537767 GARD:0000719 UMLS:C1833339 Orphanet:1104 SCTID:720496006" +MONDO:0010930 "Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." "OMIM:600776 MESH:C537767 GARD:0000719 UMLS:C1833339 Orphanet:1104 SCTID:720496006 ICD10CM:Q87.8" MONDO:0021230 "A neoplasm (disease) that involves the uterine cervix." "ONCOTREE:CERVIX NCIT:C2940" MONDO:0035136 "Orphanet:590539" UBERON:0013525 @@ -26415,33 +26396,33 @@ GO:0042246 "The regrowth of lost or destroyed tissues." UBERON:0007647 MONDO:0006240 GO:0045638 "Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid cell differentiation." -MONDO:0013282 "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis." "OMIM:613490 Orphanet:60 ICD9:273.4 MedDRA:10001806 SCTID:30188007 GARD:0005784 UMLS:C0221757 NCIT:C84397 ICD10:E88.0 ICD10:E88.01 DOID:13372 MESH:D019896" +MONDO:0013282 "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis." "OMIM:613490 Orphanet:60 ICD9:273.4 ICD10CM:E88.0 MedDRA:10001806 SCTID:30188007 GARD:0005784 UMLS:C0221757 NCIT:C84397 ICD10CM:E88.01 DOID:13372 MESH:D019896" BFO:0000024 MONDO:0012384 "OMIM:609985 UMLS:C1864946" UBERON:0013526 -MONDO:0016057 "Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur." "ICD10:Q01.0 ICD10:Q01.8 ICD10:Q01.2 ICD10:Q01.1 ICD10:Q01.9 MedDRA:10014617 GARD:0006333 Orphanet:199647" +MONDO:0016057 "Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur." "MedDRA:10014617 ICD10CM:Q01.0 GARD:0006333 ICD10CM:Q01.1 Orphanet:199647 ICD10CM:Q01.8 ICD10CM:Q01.2 ICD10CM:Q01.9" MONDO:0044989 "A disease or disorder that involves the pes." "UMLS:C0016510 MESH:D005534 SCTID:118932009" UBERON:0008844 MONDO:0017044 "This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients." "Orphanet:2666 UMLS:CN202376" -MONDO:0008375 "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision." "UMLS:C0035305 SCTID_2010_1_31:42059000 ICD9:362.40 ICD9:361.89 SCTID_2010_1_31:193347002 EFO:0005773 OMIM:180050 ICD9:361.9 SCTID:42059000 ICD10:H33.2 DOID:5327 MESH:D012163 SCTID_2010_1_31:155103005 NCIT:C26874" -MONDO:0014866 "A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25." "Orphanet:443950 OMIM:617017 DOID:0110160 ICD10:G60.0 UMLS:C4015635" +MONDO:0008375 "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision." "OMIM:312530 UMLS:C0035305 ICD9:362.40 ICD9:361.89 EFO:0005773 OMIM:180050 ICD9:361.9 SCTID:42059000 DOID:5327 MESH:D012163 NCIT:C26874" +MONDO:0014866 "A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25." "Orphanet:443950 OMIM:617017 OMIM:616233 ICD10CM:G60.0 DOID:0110160 UMLS:C4015635" GO:2000470 "Any process that activates or increases the frequency, rate or extent of peroxidase activity." -MONDO:0013583 "OMIM:614115 UMLS:C3279875 ICD10:Q04.3 Orphanet:280640" +MONDO:0013583 "OMIM:614115 UMLS:C3279875 Orphanet:280640 ICD10CM:Q04.3" http://identifiers.org/hgnc/26274 CHR:9606-chr16q24 -MONDO:0012897 "Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery." "UMLS:C0015523 SCTID:49762007 GARD:0009670 ICD9:286.2 NCIT:C84705 Orphanet:329 DOID:2229 MESH:D005173 ICD10:D68.1 OMIM:612416" +MONDO:0012897 "Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery." "UMLS:C0015523 SCTID:49762007 GARD:0009670 ICD9:286.2 NCIT:C84705 Orphanet:329 DOID:2229 MESH:D005173 OMIM:612416" UBERON:0007646 GO:0099699 "The component of the synaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane." -MONDO:0011102 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." "ICD10:H90.3 UMLS:C1832187 MESH:C563295 OMIM:601543 DOID:0110544" +MONDO:0011102 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." "UMLS:C1832187 MESH:C563295 OMIM:601543 DOID:0110544" MONDO:0012385 "OMIM:609989 MESH:C537354 GARD:0009942 UMLS:C1864944" MONDO:0000797 "OBSOLETE. A allergy involving goat milk." "DOID:0060522" GO:0044108 "The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, carried out at the level of an individual cell." -MONDO:0007154 "Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures." "SCTID:234142008 GARD:0003020 UMLS:C0007772 MESH:D002538 DOID:0060688 NCIT:C2936 Orphanet:46724 OMIM:108010 ICD10:Q28.2" +MONDO:0007154 "Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures." "SCTID:234142008 GARD:0003020 UMLS:C0007772 MESH:D002538 DOID:0060688 NCIT:C2936 ICD10CM:Q28.2 Orphanet:46724 OMIM:108010" MONDO:0000149 -MONDO:0004698 "A carcinoma in situ involving a intestine." "SCTID:92617001 ICD10:D01.4 ICD9:230.7 UMLS:C0685941 DOID:9024" +MONDO:0004698 "A carcinoma in situ involving a intestine." "SCTID:92617001 ICD9:230.7 UMLS:C0685941 DOID:9024" UBERON:0008845 -MONDO:0011989 "Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration)." "ICD10:B55.9 NCIT:C34767 Orphanet:507 OMIM:608207 EFO:0005044 ICD9:085.9 UMLS:C0023281 ICD10:B55 DOID:9065 ICD9:085 ICD10:B55.2 SCTID:80612004 MedDRA:10024198 GARD:0006881 ICD10:B55.1 ICD10:B55.0 MESH:D007896" -MONDO:0011748 "Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene." "ICD10:H35.5 OMIM:606943 UMLS:C1847089 Orphanet:886 Orphanet:231169 MESH:C564643 DOID:0110834" +MONDO:0011989 "Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration)." "NCIT:C34767 Orphanet:507 OMIM:608207 ICD9:085.9 ICD10CM:B55 EFO:0005044 UMLS:C0023281 DOID:9065 ICD10CM:B55.2 ICD10CM:B55.9 ICD10CM:B55.1 ICD9:085 ICD10CM:B55.0 MedDRA:10024198 GARD:0006881 SCTID:80612004 MESH:D007896" +MONDO:0011748 "Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene." "OMIM:606943 UMLS:C1847089 Orphanet:886 Orphanet:231169 MESH:C564643 DOID:0110834" MONDO:0001346 NCBITaxon:157540 "GC_ID:1" GO:1901533 "Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic progenitor cell differentiation." @@ -26456,16 +26437,16 @@ GO:1904411 "Any process that activates or increases the frequency, rate or exten GO:1901293 "The chemical reactions and pathways resulting in the formation of a nucleoside phosphate." MONDO:0023415 "A fungal infection by any of the Candida species that is present at birth." "NCIT:C116811 UMLS:C0343875 SCTID:276672007 MEDGEN:575892" UBERON:0014720 -MONDO:0011233 "Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene." "DOID:0110122 ICD10:Q13.8 Orphanet:782 ICD9:743.44 Orphanet:98978 Orphanet:91483 SCTID:22155002 OMIM:602482" +MONDO:0011233 "Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene." "DOID:0110122 Orphanet:782 ICD9:743.44 Orphanet:98978 Orphanet:91483 SCTID:22155002 OMIM:602482" MONDO:0043549 "A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle." "MESH:D003444 SCTID:23697004" -MONDO:0020333 "Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues." "ICD10:C96.2 DOID:4798 SCTID:716655008 ICDO:9741/3 UMLS:C1112486 NCIT:C9285 ONCOTREE:ASM Orphanet:98850 MedDRA:10056453" +MONDO:0020333 "Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues." "DOID:4798 SCTID:716655008 ICDO:9741/3 UMLS:C1112486 NCIT:C9285 ICD10CM:C96.2 ONCOTREE:ASM Orphanet:98850 MedDRA:10056453" GO:0050770 "Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron." MONDO:0011269 "Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene." "UMLS:C1864497 OMIM:602723 DOID:0080475" NCBITaxon:157541 "GC_ID:1" UBERON:0013522 MONDO:0032636 "OMIM:618253" -MONDO:0006611 "Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation." "SCTID:55941000 Wikipedia:Cutaneous_manifestations_of_sarcoidosis EFO:1000767 NCIT:C34996 ICD10:D86.3 UMLS:C0036203 DOID:13402" -MONDO:0002467 "A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems." "ICD10:H80.H83 NCIT:C27166 DOID:2952 ICD10:H83.90 ICD10:H83.9 MESH:D007759 ICD10:H80-H83 SCTID:232297009" +MONDO:0006611 "Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation." "SCTID:55941000 Wikipedia:Cutaneous_manifestations_of_sarcoidosis EFO:1000767 NCIT:C34996 UMLS:C0036203 ICD10CM:D86.3 DOID:13402" +MONDO:0002467 "A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems." "NCIT:C27166 DOID:2952 ICD10CM:H80-H83 MESH:D007759 SCTID:232297009" GO:1905941 "Any process that activates or increases the frequency, rate or extent of gonad development." MONDO:0012121 "OMIM:608787 MESH:C563858 UMLS:C1837422" GO:0048646 "The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome." @@ -26479,67 +26460,67 @@ MONDO:0008628 "A cystic and dysplastic dilation of the distal ureter within the MONDO:0013902 "Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene." "UMLS:C3542024 Orphanet:402075 DOID:0080334 OMIM:614823" MONDO:0001344 GO:1901191 "Any process that stops, prevents or reduces the frequency, rate or extent of formation of translation initiation ternary complex." -MONDO:0100309 "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual." "GARD:0006614 DOID:0050951 MESH:C531684 GARD:0010748 Orphanet:183518 SCTID:763597000 ICD10:G11" +MONDO:0100309 "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual." "GARD:0006614 DOID:0050951 ICD10CM:G10-G14 MESH:C531684 ICD10CM:G11 GARD:0010748 Orphanet:183518 SCTID:763597000" NCBITaxon:694002 "GC_ID:1" -MONDO:0010857 "Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." "OMIM:600274 ICD10:G31.0 GARD:0010792 Orphanet:100069 UMLS:C0338451 Orphanet:282" +MONDO:0010857 "Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." "OMIM:600274 GARD:0010792 Orphanet:100069 UMLS:C0338451 ICD10CM:G31.0 Orphanet:282" GO:0016482 "The directed movement of substances or organelles within the cytosol." MONDO:0035398 "Orphanet:599376" http://identifiers.org/hgnc/26013 MONDO:0044209 "A disease that has its basis in the disruption of complement activation, lectin pathway." "OMIMPS:614372" GO:0050714 "Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell." -MONDO:0016256 "Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism." "GARD:0003318 OMIM:616006 DOID:0060366 OMIMPS:235510 ICD10:Q87.8 SCTID:234146006 ICD9:457.1 UMLS:C0340834 Orphanet:2136 OMIM:235510" -MONDO:0018217 "Orphanet:363965 ICD10:Q93.5 UMLS:CN204741" +MONDO:0016256 "Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism." "GARD:0003318 OMIM:616006 DOID:0060366 OMIMPS:235510 ICD10CM:Q87.8 SCTID:234146006 ICD9:457.1 UMLS:C0340834 Orphanet:2136 OMIM:235510" +MONDO:0018217 "Orphanet:363965 UMLS:CN204741 ICD10CM:Q93.5" MONDO:0015882 "OBSOLETE. Any of the forms of pancreatic neoplasm that have a rare incidence." "Orphanet:180824" HP:0001935 "A kind of anemia in which the volume of the red blood cells is reduced." "MSH:C562385 SNOMEDCT_US:234349007 UMLS:C0085576" GO:0043624 "The disaggregation of a protein complex into its constituent components, occurring at the level of an individual cell. Protein complexes may have other associated non-protein prosthetic groups, such as nucleic acids, metal ions or carbohydrate groups." MONDO:0032639 "DOID:0111637 OMIM:618257" MONDO:0013586 "UMLS:C3279902 OMIM:614122" MONDO:0012122 "Orphanet:2573 OMIM:608796 MESH:C536993 UMLS:C1837418" -MONDO:0014658 "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." "GARD:0009443 PMID:10053006 OMIM:616482 SCTID:699870002 url:https://ghr.nlm.nih.gov/condition/saddan Orphanet:85165 ICD10:Q77.4 ICD9:757.39 ICD9:783.40 DOID:0111158" +MONDO:0014658 "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." "GARD:0009443 PMID:10053006 ICD10CM:Q77.4 OMIM:616482 SCTID:699870002 Orphanet:85165 ICD9:757.39 ICD9:783.40 DOID:0111158" MONDO:0000146 MONDO:0013748 "Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene." "OMIM:614431" -MONDO:0010378 "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss." "OMIM:300614 UMLS:C1845095 ICD10:G60.8 UMLS:C4304400 SCTID:719838008 GARD:0012731 Orphanet:139583 MESH:C564472" -MONDO:0004940 "SCTID:85051008 ICD10:N73.3 DOID:9978 UMLS:C0269032 ICD9:614.5" +MONDO:0010378 "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss." "ICD10CM:G60.8 OMIM:300614 UMLS:C1845095 UMLS:C4304400 SCTID:719838008 GARD:0012731 Orphanet:139583 MESH:C564472" +MONDO:0004940 "SCTID:85051008 ICD10CM:N73.3 DOID:9978 UMLS:C0269032 ICD9:614.5" MONDO:0017019 "UMLS:CN202332 Orphanet:264694" MONDO:0002096 "A malignant melanoma within the conjunctiva of the eye." "GARD:0010744 ONCOTREE:CM UMLS:C0346360 DOID:1751 SCTID:255004001 NCIT:C4550 EFO:1000204" UBERON:0015083 UBERON:3000972 MONDO:0012388 "UMLS:C1864941 MESH:C566490 OMIM:609994" -MONDO:0014739 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene." "ICD10:H90.3 OMIM:616705 DOID:0110539 UMLS:C4084709" -MONDO:0003276 "A disease involving the middle ear." "SCTID:68996008 DOID:5100 NCIT:C27065 UMLS:C0271428" +MONDO:0014739 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene." "OMIM:616705 DOID:0110539 UMLS:C4084709" +MONDO:0003276 "A disease involving the middle ear." "SCTID:68996008 DOID:5100 NCIT:C27065 UMLS:C0271428 ICD10CM:H65-H75" MONDO:0035133 "Orphanet:589905" -MONDO:0018212 "An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome." "ICD10:I72.0 ICD10:I72.5 UMLS:CN204734 Orphanet:36382" -MONDO:0009662 "Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses." "Orphanet:584 ICD10:E76.2 MedDRA:10056893 DOID:12803 GARD:0007096 SCTID:43916004 NCIT:C84903 MESH:D016538 OMIM:253220 ICD10:E76.29 UMLS:C0085132" +MONDO:0018212 "An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome." "ICD10CM:I72.0 ICD10CM:I72.5 UMLS:CN204734 Orphanet:36382" +MONDO:0009662 "Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses." "Orphanet:584 MedDRA:10056893 DOID:12803 GARD:0007096 SCTID:43916004 ICD10CM:E76.2 NCIT:C84903 MESH:D016538 OMIM:253220 UMLS:C0085132" HP:0000713 "A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension." "UMLS:C0085631 SNOMEDCT_US:24199005" http://identifiers.org/hgnc/19194 MONDO:0004555 "An angiomyolipoma arising from the kidney." "NCIT:C3888 UMLS:C0241961 SCTID:254921004 DOID:8411 EFO:1000312 ONCOTREE:RAML" GO:1904227 "Any process that stops, prevents or reduces the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate." -MONDO:0018218 "UMLS:CN204742 Orphanet:363969 ICD10:G31.8" +MONDO:0018218 "UMLS:CN204742 Orphanet:363969 ICD10CM:G31.8" BFO:0000027 MONDO:0000145 -MONDO:0009050 "Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland." "ICD10:D35.2 UMLS:C0010481 UMLS:C0221406 DOID:7004 UMLS:C1306214 NCIT:C7462 Orphanet:96253 OMIM:219090 MedDRA:10035109 SCTID:254958004 NCIT:C113210 ICD10:E24.0 GARD:0012867 MESH:D049913" +MONDO:0009050 "Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland." "UMLS:C0010481 UMLS:C0221406 ICD10CM:D35.2 DOID:7004 UMLS:C1306214 NCIT:C7462 Orphanet:96253 OMIM:219090 MedDRA:10035109 SCTID:254958004 NCIT:C113210 GARD:0012867 MESH:D049913" MONDO:0006536 "An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues." "SCTID:284449005 OMIMPS:608594 DOID:0050585 EFO:1000681 HP:0009059" MONDO:0031439 "OMIMPS:617877" NCBITaxon:260963 "GC_ID:1" MONDO:0012389 "OMIM:609995 MESH:C566489 UMLS:C1864940" MONDO:0000249 "Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption." "SCTID:15699003 UMLS:C0267557 HP:0005208 DOID:0050129" MONDO:0013356 "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." "Orphanet:289365 OMIM:613674 UMLS:C3150927" -MONDO:0010963 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene." "Orphanet:90635 OMIM:600965 DOID:0110584 ICD10:H90.3 UMLS:C1833021 MESH:C563421" +MONDO:0010963 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene." "Orphanet:90635 OMIM:600965 DOID:0110584 UMLS:C1833021 MESH:C563421" MONDO:0013321 "OMIM:613606 UMLS:C3150859" MONDO:0007456 "UMLS:C1852087 OMIM:125890 MESH:C565099" http://identifiers.org/hgnc/2398 MONDO:0009851 "MESH:C564894 OMIM:260970 UMLS:C1850022" UBERON:0007641 CL:0000972 "A class switched memory B cell is a memory B cell that has undergone Ig class switching and therefore is IgM-negative on the cell surface. These cells are CD27-positive and have either IgG, IgE, or IgA on the cell surface." -MONDO:0019846 "Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production." "ICD10:E23.2 Orphanet:95626" +MONDO:0019846 "Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production." "ICD10CM:E23.2 Orphanet:95626" MONDO:0014751 "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies." "Orphanet:477993 OMIM:616728 UMLS:C4225229" MONDO:0032899 "OMIM:618752" -MONDO:0005789 "Inflammation of the liver in humans caused by hepatitis delta virus, a defective rna virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." "MESH:D003699 EFO:0007304 SCTID:707341005 ICD9:070.52 Orphanet:402823 ICD10:B17.0 DOID:2047" +MONDO:0005789 "Inflammation of the liver in humans caused by hepatitis delta virus, a defective rna virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." "MESH:D003699 EFO:0007304 SCTID:707341005 ICD9:070.52 Orphanet:402823 DOID:2047" BFO:0000006 NCBITaxon:53258 "GC_ID:1" -MONDO:0007600 "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones." "OMIM:615605 OMIM:134600 GARD:0009118 ICD10:E72.0 NCIT:C123229 Orphanet:3337 OMIM:613388" +MONDO:0007600 "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones." "OMIM:615605 ICD10CM:E72.0 OMIM:134600 GARD:0009118 NCIT:C123229 Orphanet:3337 OMIM:613388" MONDO:0032898 "OMIM:618751" -MONDO:0014417 "Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy." "SCTID:734021001 OMIM:615957 Orphanet:423296 UMLS:C4518337 ICD10:G11.8 EFO:0009056 UMLS:C4014812 GARD:0012369 DOID:0050985" +MONDO:0014417 "Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy." "SCTID:734021001 OMIM:615957 Orphanet:423296 UMLS:C4518337 ICD10CM:G11.8 EFO:0009056 UMLS:C4014812 GARD:0012369 DOID:0050985" MONDO:0032632 "OMIM:618249" MONDO:0008653 "OMIM:193000 UMLS:C0042580 UMLS:CN032731 Orphanet:289365" NCBITaxon:5152 "GC_ID:1" @@ -26547,27 +26528,27 @@ MONDO:0023149 "GARD:0011970 SCTID:65154009 UMLS:C0275619" http://identifiers.org/hgnc/17655 ENVO:01000323 "The atmospheric boundary layer is the lowest layer of an atmosphere which is strongly influenced by its contact with a planetary surface with strong vertical mixing and in which physical quantities such as flow velocity, temperature, and moisture display rapid fluctuations (turbulence)." MONDO:0007457 "OMIM:125900 MESH:C565098" -MONDO:0008094 "A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color." "DOID:0111529 Orphanet:624 OMIM:163000 MedDRA:10067193 SCTID:416377005 UMLS:CN205384 ICD10:Q82.5 UMLS:C0235752 GARD:0003986 NCIT:C3840" +MONDO:0008094 "A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color." "DOID:0111529 Orphanet:624 ICD10CM:Q82.5 OMIM:163000 MedDRA:10067193 SCTID:416377005 UMLS:CN205384 UMLS:C0235752 GARD:0003986 NCIT:C3840" http://identifiers.org/hgnc/2397 MONDO:0009850 "UMLS:C0266929 SCTID:74797001 OMIM:260950" MONDO:0024348 "SCTID:400201008" GO:0002861 "Any process that modulates the frequency, rate, or extent of an inflammatory response to an antigenic stimulus." MONDO:0100439 "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes." -MONDO:0007612 "Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait." "UMLS:C1851112 MESH:C535886 SCTID:722449007 ICD10:H90.3 Orphanet:2027 OMIM:135550 GARD:0003056" -MONDO:0021512 "A benign neoplasm that involves the thymus." "SCTID:92437008 ICD10:D15.0 UMLS:C0345975 NCIT:C4458 ICD9:212.6" +MONDO:0007612 "Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait." "UMLS:C1851112 MESH:C535886 ICD10CM:H90.3 SCTID:722449007 Orphanet:2027 OMIM:135550 GARD:0003056" +MONDO:0021512 "A benign neoplasm that involves the thymus." "SCTID:92437008 UMLS:C0345975 NCIT:C4458 ICD10CM:D15.0 ICD9:212.6" CHEBI:76840 "An EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor that interferes with the action of any enzyme in the EC 1.14.99.* (miscellaneous) category." HP:0001373 "Displacement or malalignment of joints." "SNOMEDCT_US:108367008 SNOMEDCT_US:87642003 UMLS:C0012691 MSH:D004204" MONDO:0003396 "A non-neoplastic nodular lesion that arises from the gingiva." "SCTID:45676007 ICD9:523.8 MESH:D005882 UMLS:C0266919 DOID:5337 NCIT:C3948" -MONDO:0015264 "Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found." "NCIT:C62586 DOID:0050157 ICD10:J84.116 ICD10:J84.1 EFO:1001300 UMLS:C0242770 Orphanet:1302 SCTID:719218000 MESH:D018549 GARD:0001620 ICD9:516.36" +MONDO:0015264 "Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found." "NCIT:C62586 DOID:0050157 EFO:1001300 ICD10CM:J84.1 UMLS:C0242770 Orphanet:1302 SCTID:719218000 MESH:D018549 GARD:0001620 ICD9:516.36 ICD10CM:J84.116" FOODON:00001792 -MONDO:0006335 "An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." "NCIT:C7979 ICD10:C56 UMLS:C0346163 Orphanet:454723 EFO:1000416 DOID:5828 ONCOTREE:EOV SCTID:254852002" -MONDO:0016015 "A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases." "UMLS:C4275281 SCTID:715431002 Orphanet:1919 GARD:0004315 ICD10:Q86.8" +MONDO:0006335 "An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma." "ICD10CM:C56 NCIT:C7979 UMLS:C0346163 Orphanet:454723 EFO:1000416 DOID:5828 ONCOTREE:EOV SCTID:254852002" +MONDO:0016015 "A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases." "UMLS:C4275281 SCTID:715431002 ICD10CM:Q86.8 Orphanet:1919 GARD:0004315" http://identifiers.org/hgnc/6938 MONDO:0032897 "OMIM:618748" MONDO:0006259 GO:0014055 "The regulated release of acetylcholine by a cell. The acetylcholine acts as a neurotransmitter that acts in both the peripheral nervous system (PNS) and central nervous system (CNS)." -MONDO:0018931 "Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." "Orphanet:577 ICD10:E77.0 OMIM:252600 Orphanet:423461 GARD:0003806 UMLS:CN237499 SCTID:65764006 OMIM:252605 DOID:0080071" -MONDO:0004553 "An inflammatory interstitial lung disease caused by hypersensitivity reaction to inhalation or ingestion of antigens. The antigens are usually related to the patient's occupation. It can present as an acute illness with flu-like symptoms, subacute with repeated episodes of pneumonia, or chronic with dyspnea and productive cough. The majority of patients recover following the cessation of the exposure to the antigen that causes the disease. Chronic exposure may eventually progress to interstitial lung fibrosis." "ICD9:495.9 ICD9:495 NCIT:C34369 MESH:D000542 ICD10:J67.9 DOID:841" +MONDO:0018931 "Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients." "Orphanet:577 ICD10CM:E77.0 OMIM:252600 Orphanet:423461 GARD:0003806 UMLS:CN237499 SCTID:65764006 OMIM:252605 DOID:0080071" +MONDO:0004553 "An inflammatory interstitial lung disease caused by hypersensitivity reaction to inhalation or ingestion of antigens. The antigens are usually related to the patient's occupation. It can present as an acute illness with flu-like symptoms, subacute with repeated episodes of pneumonia, or chronic with dyspnea and productive cough. The majority of patients recover following the cessation of the exposure to the antigen that causes the disease. Chronic exposure may eventually progress to interstitial lung fibrosis." "ICD9:495.9 ICD9:495 NCIT:C34369 MESH:D000542 DOID:841" NCBITaxon:5151 "GC_ID:1" MONDO:0032631 "OMIM:618248" UBERON:0012332 @@ -26575,40 +26556,40 @@ http://identifiers.org/hgnc/3330 ENVO:00010504 "A layer of some material entity which is adjacent to one or more of its external boundaries and directly interacts with its immediate surroundings." MONDO:0002194 "A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia." "DOID:2071 UMLS:C1336982 NCIT:C6376" MONDO:0008302 "Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene." "OMIM:176400 UMLS:C0342543 UMLS:C3805879 Orphanet:759" -MONDO:0005933 "A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic." "MESH:D018202 ICD10:C34.9 ICD9:162.9 ICD10:C34.8 NCIT:C3732 UMLS:C0206629 ICDO:8972/3 EFO:0007458 DOID:4765 Orphanet:64741 ICD10:C34.2 ICD10:C34.3 SCTID:189815007 ICD10:C34.1" +MONDO:0005933 "A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic." "MESH:D018202 ICD9:162.9 NCIT:C3732 UMLS:C0206629 ICDO:8972/3 EFO:0007458 DOID:4765 Orphanet:64741 SCTID:189815007" GO:0106015 "Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response to wounding." UBERON:3000961 MONDO:0007458 "SCTID:715314008 OMIM:126050 UMLS:C1852085" UBERON:0005248 http://identifiers.org/hgnc/4795 -MONDO:0017136 "Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs." "OMIM:258315 ICD10:Q78.8 MESH:C567664 SCTID:725164008 DOID:0060288 Orphanet:2733 OMIMPS:258315 UMLS:C4510897 UMLS:C1850318 OMIM:164745" +MONDO:0017136 "Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs." "OMIM:258315 MESH:C567664 SCTID:725164008 DOID:0060288 Orphanet:2733 OMIMPS:258315 UMLS:C4510897 UMLS:C1850318 OMIM:164745 ICD10CM:Q78.8" GO:2000066 "Any process that activates or increases the frequency, rate or extent of cortisol biosynthetic process." MONDO:0032635 "OMIM:618252" MONDO:0024345 "SCTID:200994002 ICD9:696.5" http://identifiers.org/hgnc/6936 SO:1000036 "A continuous nucleotide sequence is inverted in the same position." -MONDO:0008433 "Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure." "SCTID:254632001 SCTID:254633006 ONCOTREE:SCLC OMIM:182280 DOID:0050685 UMLS:CN244903 MESH:D055752 ICD9:162.9 UMLS:C0262584 ICD10:C34.9 DOID:5409 DOID:5411 NCIT:C4917 Orphanet:70573 KEGG:05222 EFO:0000702" +MONDO:0008433 "Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure." "SCTID:254632001 SCTID:254633006 ONCOTREE:SCLC OMIM:182280 DOID:0050685 UMLS:CN244903 MESH:D055752 ICD9:162.9 UMLS:C0262584 DOID:5409 DOID:5411 ICD10CM:C34.9 NCIT:C4917 Orphanet:70573 KEGG:05222 EFO:0000702" MONDO:0011995 "Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported." "UMLS:C1842363 MESH:C564271 Orphanet:314993 OMIM:608227" http://identifiers.org/hgnc/6937 UBERON:0010190 -MONDO:0018988 "Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" "MESH:D057129 UMLS:C1096100 SCTID:129623003 GARD:0000060 MedDRA:10053678 UMLS:CN205427 ICD10:H21.1 Orphanet:64734 NCIT:C84792" +MONDO:0018988 "Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" "MESH:D057129 UMLS:C1096100 SCTID:129623003 GARD:0000060 ICD10CM:H21.1 MedDRA:10053678 UMLS:CN205427 Orphanet:64734 NCIT:C84792" GO:0010556 "Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass." MONDO:0032634 "OMIM:618251" MONDO:0008651 "OMIM:192900 MESH:C566002 UMLS:C1860463" -MONDO:0011834 "Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia." "DOID:0050969 UMLS:C4304848 UMLS:C1843884 GARD:0009976 SCTID:719250005 Orphanet:98771 OMIM:607458 MESH:C537197 ICD10:G11.8" +MONDO:0011834 "Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia." "DOID:0050969 UMLS:C4304848 UMLS:C1843884 GARD:0009976 ICD10CM:G11.8 SCTID:719250005 Orphanet:98771 OMIM:607458 MESH:C537197" http://identifiers.org/hgnc/3331 GO:0061564 "The progression of an axon over time. Covers axonogenesis (de novo generation of an axon) and axon regeneration (regrowth), as well as processes pertaining to the progression of the axon over time (fasciculation and defasciculation)." GO:0099123 "The regulated release of dopamine from the somatodendritic compartment (cell body or dendrites) of a neuron." -MONDO:0015770 "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)." "NCIT:C120162 UMLS:C3899503 ICD10:E23.0 Orphanet:174590 SCTID:722944006" +MONDO:0015770 "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)." "NCIT:C120162 UMLS:C3899503 ICD10CM:E23.0 Orphanet:174590 SCTID:722944006" HP:0002410 "Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum." "UMLS:C2936786 MSH:D006849" GO:0009888 "The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure." -MONDO:0010179 "Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy." "ICD10:Q22.6 SCTID:718135001 Orphanet:439 UMLS:C1848587 OMIM:277200 GARD:0004721 MESH:C535682" +MONDO:0010179 "Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy." "ICD10CM:Q22.6 SCTID:718135001 Orphanet:439 UMLS:C1848587 OMIM:277200 GARD:0004721 MESH:C535682" MONDO:0008245 "Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971." "MESH:C536955 Orphanet:2885 UMLS:C1868311 OMIM:172850 GARD:0005133" CL:0007003 "Skeletogenic cell that has the potential to form an odontoblast, deposits predentine, and arises from a cranial neural crest cell." -MONDO:0012327 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31." "UMLS:C1864815 OMIM:609647 ICD10:H90.3 DOID:0110503 MESH:C566459" +MONDO:0012327 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31." "UMLS:C1864815 OMIM:609647 DOID:0110503 MESH:C566459" UBERON:0005249 http://identifiers.org/hgnc/4796 -MONDO:0013182 "17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." "ICD10:Q92.3 Orphanet:217385 MESH:C567705 UMLS:C2750748 UMLS:C4304641 DOID:0060432 SCTID:719582007 OMIM:613215" +MONDO:0013182 "17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." "Orphanet:217385 MESH:C567705 UMLS:C2750748 UMLS:C4304641 DOID:0060432 SCTID:719582007 OMIM:613215" MONDO:0007459 "OMIM:126070 UMLS:C1876214 SCTID:23006000 GARD:0006731" MONDO:0003665 "A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium." "UMLS:C1332913 EFO:1000164 DOID:5830 ONCOTREE:CEEN NCIT:C6343" MONDO:0024346 "ICD9:696.5 UMLS:C0343100 SCTID:238924007" @@ -26617,13 +26598,13 @@ HP:0000846 "Insufficient production of steroid hormones (primarily cortisol) by GO:0035592 "The directed movement of a protein to a specific location within the extracellular region." MONDO:0002857 "A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma." "NCIT:C5736 DOID:4058 UMLS:C1333757" UBERON:0010191 -MONDO:0008633 "Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." "MedDRA:10064569 SCTID:402417009 UMLS:C0268390 UMLS:C1304205 NCIT:C119054 GARD:0008472 Orphanet:575 OMIM:191900 ICD10:E85.0 DOID:0050854 ICD9:708.8" +MONDO:0008633 "Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)." "MedDRA:10064569 ICD10CM:E85.0 SCTID:402417009 UMLS:C0268390 UMLS:C1304205 NCIT:C119054 GARD:0008472 Orphanet:575 OMIM:191900 DOID:0050854 ICD9:708.8" MONDO:0032633 "OMIM:618250" MONDO:0006596 "A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin." "SCTID:111209006 MESH:D017454 DOID:3818 Wikipedia:Photodermatitis UMLS:C0162824 ICD9:692.72 EFO:1000751" GO:1905505 "Any process that activates or increases the frequency, rate or extent of motile cilium assembly." -MONDO:0018228 "Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling." "Orphanet:364198 SCTID:763128009 UMLS:CN227287 ICD10:Q66.8" -MONDO:0014234 "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." "OMIM:615537 SCTID:239133004 Orphanet:178307 ICD10:L81.8 DOID:0060258 MESH:C562924 ICD9:709.09" -MONDO:0007058 "Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones)." "Orphanet:957 GARD:0000512 SCTID:720457000 ICD10:Q74.8 OMIM:102510 MESH:C566319 UMLS:C1863307" +MONDO:0018228 "Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling." "ICD10CM:Q66.8 Orphanet:364198 SCTID:763128009 UMLS:CN227287" +MONDO:0014234 "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." "ICD10CM:L81.8 OMIM:615537 SCTID:239133004 Orphanet:178307 DOID:0060258 MESH:C562924 ICD9:709.09" +MONDO:0007058 "Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones)." "Orphanet:957 ICD10CM:Q74.8 GARD:0000512 SCTID:720457000 OMIM:102510 MESH:C566319 UMLS:C1863307" GO:0090068 "Any process that increases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events." UBERON:0012330 UBERON:0006440 @@ -26634,7 +26615,7 @@ CL:0000240 GO:1905114 "Any cell surface receptor signaling pathway that is involved in cell-cell signaling." NCBITaxon:114277 "PMID:9734038 GC_ID:11" MONDO:0012804 "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene." "UMLS:C2677491 DOID:0110318 OMIM:612124" -MONDO:0009517 "Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation." "GARD:0006885 SCTID:111307005 ICD9:259.8 DOID:0050470 OMIM:246200 MESH:D056731 ICD10:E34.8 SCTID:33559001 NCIT:C84676 UMLS:C0271695 UMLS:C0265344 Orphanet:508" +MONDO:0009517 "Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation." "GARD:0006885 SCTID:111307005 ICD9:259.8 DOID:0050470 OMIM:246200 ICD10CM:E34.8 MESH:D056731 SCTID:33559001 NCIT:C84676 UMLS:C0271695 UMLS:C0265344 Orphanet:508" GO:0034650 "The chemical reactions and pathways involving cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties." UBERON:0003946 UBERON:0007645 @@ -26644,8 +26625,8 @@ GO:0009074 "The chemical reactions and pathways resulting in the breakdown of ar UBERON:0010192 UBERON:0002749 ENVO:01001784 "A part of an astronomical body which is primarily composed of a continuous medium bearing liquid, gaseous, and solid material in varying quantities." -MONDO:0012116 "Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." "OMIM:608768 DOID:0050959 SCTID:715753001 UMLS:C4275024 GARD:0004956 UMLS:C1837454 Orphanet:98760 ICD10:G11.2" -MONDO:0006976 "A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1." "SCTID:253006001 ICDO:8156/1 UMLS:C0037661 ICD9:235.5 MedDRA:10041329 MESH:D013005 Orphanet:97283 GARD:0004900 ICD10:E16.8 DOID:4430 EFO:1001187 NCIT:C3379" +MONDO:0012116 "Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." "OMIM:608768 DOID:0050959 SCTID:715753001 UMLS:C4275024 GARD:0004956 UMLS:C1837454 Orphanet:98760 ICD10CM:G11.2" +MONDO:0006976 "A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1." "SCTID:253006001 ICDO:8156/1 UMLS:C0037661 ICD9:235.5 MedDRA:10041329 MESH:D013005 Orphanet:97283 GARD:0004900 ICD10CM:E16.8 DOID:4430 EFO:1001187 NCIT:C3379" http://identifiers.org/hgnc/18858 http://identifiers.org/hgnc/409 MONDO:0009854 "OMIM:261400" @@ -26673,14 +26654,14 @@ MONDO:0024349 "SCTID:402296004 ICD9:696.5" CHR:9606-chr9q22.3 http://identifiers.org/hgnc/6932 CL:0011101 "Cells of the uterine chorion that acquire specialized structural and/or functional features that characterize chorionic trophoblasts. These cells will migrate towards the spongiotrophoblast layer and give rise to syncytiotrophoblasts of the labyrinthine layer." -MONDO:0007680 "Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." "GARD:0001671 OMIM:138790 Orphanet:2091 ICD10:Q87.8 SCTID:723409007 MESH:C535986 UMLS:C1841853" +MONDO:0007680 "Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." "GARD:0001671 OMIM:138790 Orphanet:2091 ICD10CM:Q87.8 SCTID:723409007 MESH:C535986 UMLS:C1841853" MONDO:0007734 "A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis." "MESH:C564180 DOID:0110880 UMLS:C1840528 OMIM:142946 Orphanet:2162 NCIT:C75475" ENVO:03000110 "A geographic feature which is primarily composed of a continuous mass of snow and/or ice." MONDO:0032630 "OMIM:618247" MONDO:0000577 "Anemia, the cause of which is present at birth." "UMLS:C0158995 SCTID:63565007 NCIT:C35228" MONDO:0008655 "UMLS:C2931176 OMIM:193005 MESH:C536346 GARD:0005489" MAXO:0000014 "Treatment of a disease by means of exposure of the target or the whole body to radiation. Radiation therapy is often used as part of curative therapy and occasionally as a component of palliative treatment for cancer. Other uses include total body irradiation prior to transplantation." -MONDO:0012866 "Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging." "SCTID:764688002 OMIM:612319 UMLS:C3496228 ICD10:G11.4 Orphanet:171629 MESH:C567311 DOID:0110786" +MONDO:0012866 "Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging." "SCTID:764688002 ICD10CM:G11.4 OMIM:612319 UMLS:C3496228 Orphanet:171629 MESH:C567311 DOID:0110786" CL:0000558 "An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds." "CALOHA:TS-0864 BTO:0001173" MONDO:0032896 "OMIM:618745" CL:0002059 "A conventional thymic dendritic cell that is CD8alpha-positive." @@ -26692,9 +26673,9 @@ MONDO:0007455 GO:0031326 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells." MONDO:0002260 "An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland." "NCIT:C32132 DOID:2282 MESH:D016575 NCIT:C112190 ICD9:705.83 SCTID:69741000 UMLS:C0085160" MONDO:0021630 "A lipoma that involves the face." "ICD9:214.0 SCTID:93159009" -MONDO:0008059 "Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth." "DOID:0111528 OMIM:161000 ICD10:Q82.4 Orphanet:69087 SCTID:239084001 MESH:C538331 GARD:0003912 UMLS:C0343111" +MONDO:0008059 "Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth." "DOID:0111528 OMIM:161000 Orphanet:69087 ICD10CM:Q82.4 SCTID:239084001 MESH:C538331 GARD:0003912 UMLS:C0343111" http://identifiers.org/hgnc/6931 -MONDO:0019409 "Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis." "ICD9:733.02 UMLS:CN536248 OMIM:615221 OMIM:259750 GARD:0006760 SCTID:3345002 ICD10:M81.5 MESH:C537700 Orphanet:85193 DOID:12559 NCIT:C119996" +MONDO:0019409 "Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis." "ICD9:733.02 UMLS:CN536248 OMIM:615221 OMIM:259750 GARD:0006760 SCTID:3345002 MESH:C537700 Orphanet:85193 DOID:12559 NCIT:C119996" MONDO:0021404 "A polyp that involves the sphenoidal sinus." "SCTID:90685008 ICD9:471.8 UMLS:C0264255 NCIT:C3933" CHEBI:27306 "Any member of the group of pyridines that exhibit biological activity against vitamin B6 deficiency. Vitamin B6 deficiency is associated with microcytic anemia, electroencephalographic abnormalities, dermatitis with cheilosis (scaling on the lips and cracks at the corners of the mouth) and glossitis (swollen tongue), depression and confusion, and weakened immune function. Vitamin B6 consists of the vitamers pyridoxine, pyridoxal, and pyridoxamine and their respective 5'-phosphate esters (and includes their corresponding ionized and salt forms)." GO:0016829 "Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring." @@ -26705,19 +26686,19 @@ MONDO:0030498 "OMIM:619652" MONDO:0032895 "OMIM:618744" MONDO:0024290 "An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years)." "UMLS:C0014394 MESH:D004775 NCIT:C34588" UBERON:0006444 -MONDO:0006879 "Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" "SCTID:73221001 SCTID:6141006 ICD10:H47.10 ICD10:H46.0 EFO:1001074 ICD9:377.31 MedDRA:10030948 ICD9:377.00 DOID:10175 ICD9:377.01 MESH:D010211 NCIT:C3307 ICD10:H35.81 ICD9:362.83 ICD10:H47.11 ICD9:377.0 ICD10:H47.1" +MONDO:0006879 "Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" "SCTID:73221001 SCTID:6141006 EFO:1001074 ICD9:377.31 MedDRA:10030948 ICD9:377.00 DOID:10175 ICD9:377.01 MESH:D010211 NCIT:C3307 ICD9:362.83 ICD9:377.0" GO:0045739 "Any process that activates or increases the frequency, rate or extent of DNA repair." MONDO:0040700 "A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative." "NCIT:C4548 UMLS:C0346356 SCTID:255002002" MONDO:0024456 "An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)" "UMLS:C1839928 GARD:0002978 GARD:0002482 OMIM:601631 MESH:C535535 DOID:0080608" MONDO:0014401 "Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis." "UMLS:C4014690 DOID:0070316 Orphanet:329191 OMIM:615923" MONDO:0010841 "GARD:0005522 UMLS:C1838447 OMIM:600193 Orphanet:895 DOID:0110947 MESH:C536465 Orphanet:3440" -MONDO:0005921 "Malaria resulting from infection by Plasmodium vivax." "SCTID:27052006 ICD10:B51.9 MESH:D016780 ICD9:084.1 UMLS:C0024537 ICD10:B51 NCIT:C34800 DOID:12978 EFO:0007445" +MONDO:0005921 "Malaria resulting from infection by Plasmodium vivax." "SCTID:27052006 MESH:D016780 ICD9:084.1 UMLS:C0024537 ICD10CM:B51 NCIT:C34800 DOID:12978 EFO:0007445" NCBITaxon:548681 "GC_ID:1" CHEBI:83876 "An organic cation obtained by protonation of the amino function of any sphingoid" http://identifiers.org/hgnc/406 MONDO:0004376 "An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported." "UMLS:C1518329 DOID:7839 NCIT:C40363" -MONDO:0014096 "This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes)." "UMLS:C0796203 OMIM:615236 Orphanet:137658 ICD10:Q87.8 GARD:0003498 SCTID:719396000" -MONDO:0006679 "Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra." "ICD9:596.0 MESH:D001748 ICD10:N32.0 SCTID:399072004 NCIT:C79541 DOID:13948 EFO:1000840 MedDRA:10005053 UMLS:C0005694" +MONDO:0014096 "This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes)." "UMLS:C0796203 OMIM:615236 Orphanet:137658 GARD:0003498 SCTID:719396000 ICD10CM:Q87.8" +MONDO:0006679 "Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra." "ICD9:596.0 MESH:D001748 SCTID:399072004 NCIT:C79541 DOID:13948 EFO:1000840 MedDRA:10005053 UMLS:C0005694 ICD10CM:N32.0" HP:0000069 "An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder." "UMLS:C1840382" GO:0051356 "The series of events during equilibrioception required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual input plays an important role in the ability of an organism to perceive its orientation with respect to gravity." GO:0140013 "One of the two nuclear divisions that occur as part of the meiotic cell cycle." @@ -26738,16 +26719,16 @@ UBERON:0004040 MONDO:0700040 "Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility." "SCTID:16716281000119108" MONDO:0032890 "OMIM:618733" HP:0001945 "Body temperature elevated above the normal range." "MSH:D005334 SNOMEDCT_US:386661006 SNOMEDCT_US:50177009 UMLS:C0015967" -MONDO:0018461 "ICD10:Q93.5 UMLS:CN237441 Orphanet:411511" -MONDO:0018462 "UMLS:CN237442 Orphanet:411515 ICD10:Q93.5" +MONDO:0018461 "UMLS:CN237441 Orphanet:411511 ICD10CM:Q93.5" +MONDO:0018462 "UMLS:CN237442 Orphanet:411515 ICD10CM:Q93.5" MONDO:0006245 "A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." "GARD:0010439 EFO:1000295 ICDO:8402/3 NCIT:C54664" -MONDO:0024664 "A hypertensive disorder that develops during pregnancy." "NCIT:C9243 MESH:D046110 SCTID:48194001" +MONDO:0024664 "A hypertensive disorder that develops during pregnancy." "ICD10CM:O10-O16 NCIT:C9243 MESH:D046110 SCTID:48194001" NCBITaxon:181550 "GC_ID:1" MONDO:0002792 "A medulloblastoma arising from the vermis of the cerebellum." "DOID:3860 UMLS:C1332903 NCIT:C5401" GO:0016840 "Catalysis of the release of ammonia or one of its derivatives, with the formation of a double bond or ring. Enzymes with this activity may catalyze the actual elimination of the ammonia, amine or amide, e.g. CH-CH(-NH-R) = C=CH- + NH2-R. Others, however, catalyze elimination of another component, e.g. water, which is followed by spontaneous reactions that lead to breakage of the C-N bond, e.g. L-serine ammonia-lyase (EC:4.3.1.17), so that the overall reaction is C(-OH)-CH(-NH2) = CH2-CO- + NH3, i.e. an elimination with rearrangement. The sub-subclasses of EC:4.3 are the ammonia-lyases (EC:4.3.1), lyases acting on amides, amidines, etc. (EC:4.3.2), the amine-lyases (EC:4.3.3), and other carbon-nitrogen lyases (EC:4.3.99)." MONDO:0023142 "GARD:0002297" GO:1905294 "Any process that activates or increases the frequency, rate or extent of neural crest cell differentiation." -MONDO:0012246 "Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." "SCTID:718769009 MESH:C537203 DOID:0050975 UMLS:C1836395 ICD10:G11.2 OMIM:609306 Orphanet:101112 GARD:0009995" +MONDO:0012246 "Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities." "SCTID:718769009 MESH:C537203 ICD10CM:G11.2 DOID:0050975 UMLS:C1836395 OMIM:609306 Orphanet:101112 GARD:0009995" NCBITaxon:469 "PMID:7520730 PMID:9336926 PMID:9226915 PMID:8934907 GC_ID:11 PMID:10028249" MONDO:0015966 "UMLS:CN200566 Orphanet:183619" UBERON:0003942 @@ -26757,21 +26738,21 @@ GO:0045820 "Any process that stops, prevents, or reduces the frequency, rate or NCBITaxon:110310 http://identifiers.org/hgnc/9438 http://identifiers.org/hgnc/11559 -MONDO:0005706 "A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease." "GARD:0009525 UMLS:CN201384 ICD10:B38.1 ICD10:B38.4 DOID:13450 ICD10:B38.7 ICD9:114.9 Orphanet:228123 NCIT:C84642 EFO:0007211 ICD9:114.1 MedDRA:10009825 ICD9:114 ICD10:B38.2 ICD10:B38 MESH:D003047 ICD10:B38.8 UMLS:C0700644 ICD10:B38.0 ICD10:B38.3 SCTID:23247008 UMLS:C0009186 ICD10:B38.9" -MONDO:0020315 "OBSOLETE. Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance." "UMLS:CN207136 ICD10:D46.7 Orphanet:98827" +MONDO:0005706 "A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease." "ICD10CM:B38.3 GARD:0009525 UMLS:CN201384 ICD10CM:B38.9 DOID:13450 ICD9:114.9 ICD10CM:B38 Orphanet:228123 ICD10CM:B38.1 NCIT:C84642 ICD10CM:B38.4 EFO:0007211 ICD9:114.1 MedDRA:10009825 ICD10CM:B38.7 ICD9:114 MESH:D003047 UMLS:C0700644 ICD10CM:B38.2 ICD10CM:B38.8 SCTID:23247008 UMLS:C0009186 ICD10CM:B38.0" +MONDO:0020315 "OBSOLETE. Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance." "UMLS:CN207136 Orphanet:98827" MONDO:0014694 "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene." "UMLS:C4225279 OMIM:616566 GARD:0012807 Orphanet:2311" HP:0004322 "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." "UMLS:C0349588 SNOMEDCT_US:237836003" UBERON:0001549 HP:0000347 "Developmental hypoplasia of the mandible." "Fyler:4163 UMLS:C0240295 SNOMEDCT_US:32958008 UMLS:C1857130 UMLS:C0025990 MSH:D008844" MONDO:0017261 "UMLS:CN202779 Orphanet:280933" GO:0098840 "The directed movement of a protein along a microtubule, mediated by motor proteins." -MONDO:0018882 "Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease." "MESH:D014657 SCTID:31996006 OMIM:615688 EFO:0006803 MedDRA:10036023 UMLS:C0042384 Orphanet:52759 GARD:0009565 Wikipedia:Vasculitis DOID:865 MedDRA:10047115 NCIT:C26912" +MONDO:0018882 "Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease." "MESH:D014657 SCTID:31996006 OMIM:615688 EFO:0006803 MedDRA:10036023 UMLS:C0042384 Orphanet:52759 GARD:0009565 Wikipedia:Vasculitis NCIT:C26912 DOID:865 MedDRA:10047115" MONDO:0030493 "OMIM:619646" MONDO:0015965 "Orphanet:183601 UMLS:CN226813" MONDO:0032892 "OMIM:618736" UBERON:0000348 CHEBI:23117 "A halogen molecular entity containing one or more atoms of chlorine." -MONDO:0008659 "MESH:C562798 SCTID:237933007 UMLS:C0342700 Orphanet:2967 OMIM:193090 ICD10:E53.8 GARD:0005239" +MONDO:0008659 "MESH:C562798 SCTID:237933007 ICD10CM:E53.8 UMLS:C0342700 Orphanet:2967 OMIM:193090 GARD:0005239" MONDO:0005874 "Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)" "UMLS:C0752191 MESH:D020818 DOID:13722 EFO:0007394" http://identifiers.org/hgnc/403 CHEBI:25513 "Any glycosphingolipid containing unsubstituted glycosyl moieties." @@ -26779,20 +26760,20 @@ MONDO:0005413 "Cystic fibrosis associated meconium ileum is a thickening and con http://identifiers.org/hgnc/9439 MONDO:0002896 "The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks." "SCTID:186846005 MESH:C536772 ICD9:091 UMLS:C0153139 DOID:4156 UMLS:C2931317 NCIT:C128412" MONDO:0005783 "An accumulation of blood within the pericardial sac." "ICD9:423.0 UMLS:C0019064 DOID:11482 EFO:0007298 HP:0011851 NCIT:C111644 SCTID:23412002" -MONDO:0017295 "Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." "ICD10:E74.8 Orphanet:284411 OMIM:307030" +MONDO:0017295 "Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness." "Orphanet:284411 OMIM:307030 ICD10CM:E74.8" GO:0006071 "The chemical reactions and pathways involving glycerol, 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids." -MONDO:0100186 "UMLS:C2673535 SCTID:23447005 ICD10:E70.1 NCIT:C141442 UMLS:C0268467 OMIM:233910 Orphanet:238583 Orphanet:2102 GARD:0002844" +MONDO:0100186 "UMLS:C2673535 SCTID:23447005 ICD10CM:E70.1 NCIT:C141442 UMLS:C0268467 OMIM:233910 Orphanet:238583 Orphanet:2102 GARD:0002844" MONDO:0024746 "A teratoma composed of immature, fetal-type tissues." "ICDO:9080/3 NCIT:C4286" MONDO:0020000 "OBSOLETE. Rare respiratory system disease." "UMLS:CN206934 Orphanet:97955" GO:0001764 "The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature." MONDO:0060578 "Orphanet:572798 UMLS:C4540192 OMIM:617710" UBERON:0011131 -MONDO:0018424 "An acquired metabolic disease that is has its basis in the disruption of lipoate biosynthetic process." "GARD:0012679 Orphanet:401854 ICD10:E88.8" +MONDO:0018424 "An acquired metabolic disease that is has its basis in the disruption of lipoate biosynthetic process." "GARD:0012679 Orphanet:401854 ICD10CM:E88.8" MONDO:0019119 "A channelopathy that involves the muscle tissue." "Orphanet:71864 EFO:1001899" GO:0008200 "Binds to and stops, prevents, or reduces the activity of an ion channel." MONDO:0018565 "Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum." "Orphanet:435743" MONDO:0025294 "Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic." "MESH:D017282" -MONDO:0016063 "MESH:D006223 OMIM:615108 NCIT:C3076 MedDRA:10051906 OMIM:158350 OMIM:615106 OMIM:615109 DOID:6457 UMLS:C0018553 ICD10:Q85.8 OMIM:616858 GARD:0006202 OMIM:615107 SCTID:58037000 OMIMPS:158350 OMIM:612359 Orphanet:201" +MONDO:0016063 "MESH:D006223 OMIM:615108 NCIT:C3076 MedDRA:10051906 OMIM:158350 OMIM:615106 OMIM:615109 DOID:6457 UMLS:C0018553 OMIM:616858 GARD:0006202 OMIM:615107 SCTID:58037000 OMIMPS:158350 OMIM:612359 Orphanet:201 ICD10CM:Q85.8" MONDO:0014613 "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene." "Orphanet:2032 UMLS:C4225346 OMIM:616373" MONDO:0032891 "OMIM:618734" MONDO:0015964 @@ -26809,7 +26790,7 @@ MONDO:0005174 "Acute form of hypotension (disease)." "EFO:0002497" http://identifiers.org/hgnc/2394 UBERON:0011132 MONDO:0015963 "Orphanet:183595 UMLS:CN200562" -MONDO:0006692 "A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly." "ICD10:G37.2 MESH:D017590 SCTID:6807001 NCIT:C84623 UMLS:C0206083 MedDRA:10007968 EFO:1000857 GARD:0008749 DOID:636 ICD9:341.8" +MONDO:0006692 "A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly." "MESH:D017590 SCTID:6807001 NCIT:C84623 UMLS:C0206083 MedDRA:10007968 ICD10CM:G37.2 EFO:1000857 GARD:0008749 DOID:636 ICD9:341.8" MONDO:0006480 "An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." "NCIT:C6497 UMLS:C1334180 EFO:1000608 DOID:6192" MONDO:0019049 "OBSOLETE. Rare dystonia." "Orphanet:68363" HP:0002486 "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation." "SNOMEDCT_US:3434004 MSH:D009222 UMLS:C0027125" @@ -26824,19 +26805,19 @@ UBERON:0035322 MONDO:0021849 "GARD:0000610 MESH:C538125" UBERON:0011133 CHEBI:35230 "A fuel such as coal, oil and natural gas which has formed over many years through the decomposition of deposited vegetation which was under extreme pressure of an overburden of earth." -MONDO:0008347 "Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown." "OMIM:615342 OMIM:178600 OMIM:615343 UMLS:CN205068 ICD10:I27.0 OMIM:615344 OMIM:265400 Orphanet:422" +MONDO:0008347 "Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown." "OMIM:615342 OMIM:178600 OMIM:615343 UMLS:CN205068 ICD10CM:I27.0 OMIM:615344 OMIM:265400 Orphanet:422" MONDO:0017260 "Orphanet:280930 UMLS:CN202778" MONDO:0024344 "SCTID:200993008 ICD9:696.5 UMLS:C0406312" -MONDO:0005516 "A term referring to disorders characterized by abnormalities in the development of bones and cartilage." "UMLS:C0029422 OMIM:215050 ICD10:Q78.9 MESH:D010009 GARD:0006051 NCIT:C84978 ICD9:756.4 EFO:0005571 DOID:2256 SCTID:105985007" +MONDO:0005516 "A term referring to disorders characterized by abnormalities in the development of bones and cartilage." "UMLS:C0029422 OMIM:215050 MESH:D010009 GARD:0006051 NCIT:C84978 ICD9:756.4 EFO:0005571 DOID:2256 SCTID:105985007" MONDO:0015962 "Orphanet:183592 UMLS:CN200561" -MONDO:0016061 "ICD10:D84.1 OMIM:609814 Orphanet:200421" -MONDO:0001413 "A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion." "ICD10:A21.0 UMLS:C0152941 ICD9:021.0 DOID:11990 SCTID:37722001" -MONDO:0001353 "Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough." "SCTID:77116006 DOID:11750 ICD9:033.1 UMLS:C0275742 ICD10:A37.1" +MONDO:0016061 "OMIM:609814 ICD10CM:D84.1 Orphanet:200421" +MONDO:0001413 "A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion." "UMLS:C0152941 ICD9:021.0 DOID:11990 SCTID:37722001 ICD10CM:A21.0" +MONDO:0001353 "Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough." "SCTID:77116006 DOID:11750 ICD9:033.1 UMLS:C0275742 ICD10CM:A37.1" MONDO:0044617 "Orphanet:482606" MONDO:0003720 "A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "UMLS:C0238208 NCIT:C7726 DOID:5982" UBERON:0036521 http://identifiers.org/hgnc/17652 -MONDO:0013414 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene." "OMIM:613769 UMLS:C3151068 DOID:0110394 ICD10:H35.5" +MONDO:0013414 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene." "OMIM:613769 UMLS:C3151068 DOID:0110394" CHEBI:38633 "An agent that inhibits sodium influx through cell membranes." MONDO:0030492 "OMIM:619645" UBERON:0011134 @@ -26844,29 +26825,29 @@ http://identifiers.org/hgnc/2396 MONDO:0008781 "A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia." "DOID:0110067 UMLS:C1859806 OMIM:205200 MESH:C565956" MONDO:0014784 "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size." "UMLS:C4225196 Orphanet:467176 OMIM:616816" GO:0010558 "Any process that decreases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass." -MONDO:0019391 "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." "OMIM:603467 OMIM:227646 OMIM:600901 OMIMPS:227650 OMIM:610832 OMIM:614083 ICD10:D61.09 OMIM:609053 Orphanet:84 DOID:13636 OMIM:614082 OMIM:300514 OMIM:615272 OMIM:227650 OMIM:227645 MedDRA:10055206 ICD9:284.09 SCTID:30575002 UMLS:C0015625 NCIT:C62505 OMIM:616435 OMIM:613951 ICD10:D61.0 GARD:0006425 OMIM:609054 MESH:D005199 OMIM:613390" +MONDO:0019391 "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." "OMIM:603467 OMIM:227646 OMIM:600901 OMIMPS:227650 OMIM:610832 OMIM:614083 OMIM:609053 Orphanet:84 DOID:13636 OMIM:614082 OMIM:300514 OMIM:227650 OMIM:615272 OMIM:227645 MedDRA:10055206 ICD9:284.09 SCTID:30575002 UMLS:C0015625 ICD10CM:D61.0 NCIT:C62505 OMIM:616435 OMIM:613951 GARD:0006425 OMIM:609054 MESH:D005199 OMIM:613390" MONDO:0023143 "GARD:0002302" NCBITaxon:468 "GC_ID:11 PMID:9542079" MONDO:0011805 "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene." "OMIM:607277 UMLS:C1846534" -MONDO:0013848 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene." "OMIM:614672 Orphanet:154 DOID:0110441 UMLS:C3553409 ICD10:I42.0" +MONDO:0013848 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene." "OMIM:614672 Orphanet:154 DOID:0110441 UMLS:C3553409 ICD10CM:I42.0" GO:0023056 "Any process that activates, maintains or increases the frequency, rate or extent of a signaling process." MONDO:0008710 "Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene." "UMLS:C1275078 Orphanet:65759 SCTID:205813009 OMIM:201000" MONDO:0020647 "OMIM:618142" -MONDO:0015961 "Orphanet:183583" +MONDO:0015961 "Orphanet:183583 ICD10CM:Q10-Q18" MONDO:0003056 "A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." "EFO:1000342 DOID:4591 NCIT:C4720 UMLS:C0431119" CL:0000839 "A progenitor cell restricted to the myeloid lineage." "CALOHA:TS-2099 FMA:70339 BTO:0004730" MONDO:0004044 "A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter." "DOID:6936 NCIT:C6160 UMLS:C1519823" UBERON:0000344 -MONDO:0005532 "Crohn's disease affecting the colon." "SCTID:7620006 ICD9:555.1 DOID:0060192 ICD10:K50.1 NCIT:C35211 EFO:0005622" +MONDO:0005532 "Crohn's disease affecting the colon." "SCTID:7620006 ICD9:555.1 DOID:0060192 NCIT:C35211 EFO:0005622" http://identifiers.org/hgnc/2395 GO:0051961 "Any process that stops, prevents, or reduces the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue." UBERON:0011135 MONDO:0001930 "Cholangitis that is both sudden in onset and of a relatively short duration." "NCIT:C35334 UMLS:C0267917 SCTID:6215006 DOID:14271" -MONDO:0018614 "A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities." "OMIM:617162 OMIM:617105 OMIM:616211 ICD10:G40.4 OMIM:615871 OMIM:614558 OMIM:616339 OMIM:615905 OMIM:617166 OMIM:616366 OMIM:616346 OMIM:617106 OMIM:617153 OMIM:615833 Orphanet:442835 OMIM:616409 OMIM:617132 OMIM:616056" +MONDO:0018614 "A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities." "ICD10CM:G40.4 OMIM:617162 OMIM:617105 OMIM:616211 OMIM:615871 OMIM:614558 OMIM:616339 OMIM:615905 OMIM:617166 OMIM:616366 OMIM:616346 OMIM:617106 OMIM:617153 OMIM:615833 Orphanet:442835 OMIM:616409 OMIM:617132 OMIM:616056" MONDO:0014071 "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene." "Orphanet:899 Orphanet:588 DOID:0111230 UMLS:C3554638 OMIM:615181" MONDO:0012330 "Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested." "GARD:0010061 UMLS:C1864784 MESH:C536894 Orphanet:50809 OMIM:609655" MONDO:0003902 "A hemangioblastoma that involves the brainstem." "UMLS:C1332611 DOID:6501 NCIT:C5147" -MONDO:0015044 "Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL)." "Orphanet:100024 ICD9:273.2 ICD10:C88.2 NCIT:C3892 DOID:0060128 SCTID:61493004" +MONDO:0015044 "Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL)." "Orphanet:100024 ICD9:273.2 ICD10CM:C88.2 NCIT:C3892 DOID:0060128 SCTID:61493004" UBERON:0001543 CHEBI:39142 "A molecular entity capable of accepting a hydron from a donor (Bronsted acid)." MONDO:0030490 "OMIM:619643" @@ -26874,12 +26855,12 @@ MONDO:0020648 "SCTID:192689006" MONDO:0015960 "UMLS:CN226804 Orphanet:183530" GO:0048018 "The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands)." MONDO:0020652 "ONCOTREE:VIMT" -MONDO:0014532 "UMLS:C4015513 ICD10:G71.3 OMIM:616209 Orphanet:457050" +MONDO:0014532 "UMLS:C4015513 ICD10CM:G71.3 OMIM:616209 Orphanet:457050" MONDO:0001354 MONDO:0002058 "A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma." "NCIT:C40382 DOID:1625 UMLS:C1328385" ENVO:01001239 -MONDO:0018469 "Orphanet:411703 UMLS:CN237452 ICD10:A31.0 GARD:0012829" -MONDO:0014272 "Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda." "UMLS:C3810072 OMIM:615598 ICD10:Q82.8 Orphanet:140966 SCTID:722205008" +MONDO:0018469 "Orphanet:411703 UMLS:CN237452 GARD:0012829" +MONDO:0014272 "Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda." "UMLS:C3810072 OMIM:615598 ICD10CM:Q82.8 Orphanet:140966 SCTID:722205008" http://identifiers.org/hgnc/19181 GO:0060548 "Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death." UBERON:0000341 @@ -26893,35 +26874,35 @@ MONDO:0004412 "A very rare, aggressive carcinoma of the sweat glands arising fro MONDO:0006224 "A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations." "NCIT:C4373 EFO:1000271 SCTID:235685007 UMLS:C0341225" MONDO:0017005 "Orphanet:263746" http://identifiers.org/hgnc/663 -MONDO:0016908 "Orphanet:262074 ICD10:Q93.5" +MONDO:0016908 "Orphanet:262074 ICD10CM:Q93.5" MONDO:0044626 "Orphanet:488191" -MONDO:0007490 "Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." "MESH:C565076 SCTID:389272007 Orphanet:2767 ICD10:D16.9 OMIM:127820 GARD:0001128 UMLS:C1300233" +MONDO:0007490 "Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs." "ICD10CM:D16.9 MESH:C565076 SCTID:389272007 Orphanet:2767 OMIM:127820 GARD:0001128 UMLS:C1300233" MONDO:0002551 "DOID:3199 NCIT:C5413 UMLS:C1332905" http://identifiers.org/hgnc/28403 GO:0005230 "Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts." -MONDO:0001297 "Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion." "NCIT:C50481 EFO:1001285 ICD9:423.3 ICD10:I31.4 DOID:115 SCTID:35304003 MESH:D002305 UMLS:C0007177" +MONDO:0001297 "Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion." "NCIT:C50481 EFO:1001285 ICD9:423.3 DOID:115 ICD10CM:I31.4 SCTID:35304003 MESH:D002305 UMLS:C0007177" http://identifiers.org/hgnc/26006 -MONDO:0007313 "Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands." "ICD10:K13.0 GARD:0000412 UMLS:C0267034 Orphanet:1221 SCTID:26374003 MESH:C535921 OMIM:118330" -MONDO:0016358 "Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms." "SCTID:298285004 ICD10:M34.1 GARD:0001053 Orphanet:220402" +MONDO:0007313 "Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands." "ICD10CM:K13.0 GARD:0000412 UMLS:C0267034 Orphanet:1221 SCTID:26374003 MESH:C535921 OMIM:118330" +MONDO:0016358 "Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms." "SCTID:298285004 GARD:0001053 Orphanet:220402 ICD10CM:M34.1" MONDO:0044624 "Orphanet:487809" MONDO:0015709 "UMLS:CN200213 Orphanet:169355" -MONDO:0004750 "A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect." "NCIT:C97155 ICD10:F80.9 HP:0002463 DOID:93 MESH:D007806 EFO:0005425" +MONDO:0004750 "A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect." "NCIT:C97155 HP:0002463 DOID:93 MESH:D007806 EFO:0005425" UBERON:0011137 CHEBI:138103 "A Bronsted acid derived from one or more inorganic compounds. Inorganic acids (also known as mineral acids) form hydrons and conjugate base ions when dissolved in water." MONDO:0013335 "OMIM:613636" ENVO:01000544 "A boundary layer is a layer of fluid in the immediate vicinity of a bounding surface where the effects of viscosity are significant enough to distort the surrounding non-viscous flow." -MONDO:0017006 "ICD10:Q98.8 Orphanet:263749" +MONDO:0017006 "Orphanet:263749 ICD10CM:Q98.8" MONDO:0021545 "A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle." "MESH:D019042 NCIT:C4063 MESH:D009379" -MONDO:0004514 "Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough." "NCIT:C34479 ICD10:J31.0 DOID:8252 SCTID:86094006 ICD9:472.0 UMLS:C0008711" +MONDO:0004514 "Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough." "NCIT:C34479 DOID:8252 SCTID:86094006 ICD9:472.0 UMLS:C0008711 ICD10CM:J31.0" MONDO:0009636 "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene." "OMIM:251880 Orphanet:279934 UMLS:C4310935 UMLS:C3151513 DOID:0080121" MONDO:0044625 "Orphanet:487814" CL:0002429 "A double-positive thymocyte that is CD69-positive and has begun positive selection." -MONDO:0018987 "A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives." "MESH:D058890 ICD10:N61 GARD:0013119 UMLS:C0405469 Orphanet:64722 SCTID:237444008" -MONDO:0002552 "DOID:320 UMLS:C0154685 ICD9:336.1 ICD10:G95.1 SCTID:29774004" -MONDO:0010298 "Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." "UMLS:C0023374 OMIM:300322 NCIT:C61255 SCTID:10406007 MESH:D007926 ICD9:277.2 Orphanet:510 SCTID:124275001 GARD:0007226 UMLS:CN205196 DOID:1919 MedDRA:10057589 OMIM:308950 ICD10:E79.1" +MONDO:0018987 "A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives." "MESH:D058890 GARD:0013119 UMLS:C0405469 Orphanet:64722 ICD10CM:N61 SCTID:237444008" +MONDO:0002552 "DOID:320 UMLS:C0154685 ICD9:336.1 ICD10CM:G95.1 SCTID:29774004" +MONDO:0010298 "Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." "UMLS:C0023374 OMIM:300322 NCIT:C61255 SCTID:10406007 MESH:D007926 ICD9:277.2 Orphanet:510 SCTID:124275001 ICD10CM:E79.1 GARD:0007226 UMLS:CN205196 DOID:1919 MedDRA:10057589 OMIM:308950" HP:0001254 "A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating." "SNOMEDCT_US:214264003 UMLS:C0023380 MSH:D053609" MONDO:0009073 "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene." "Orphanet:7 UMLS:C0796137 DOID:0060571 OMIM:220210" -MONDO:0018051 "Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck." "ICD10:L98.6 Orphanet:33314 GARD:0006940 UMLS:C0580181" +MONDO:0018051 "Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck." "ICD10CM:L98.6 Orphanet:33314 GARD:0006940 UMLS:C0580181" MONDO:0004217 "A germinoma arising from the brain during childhood." "NCIT:C6207 DOID:7429 UMLS:C1332948" HP:0005257 "UMLS:C1837482" GO:0071625 "The behavior in which an organism produces sounds by a mechanism involving its respiratory system." @@ -26931,66 +26912,66 @@ CL:0000766 "A cell of the monocyte, granulocyte, or mast cell lineage." http://identifiers.org/hgnc/11551 UBERON:0011138 GO:0001964 "An action or movement due to the application of a sudden unexpected stimulus." -MONDO:0001724 "A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas." "DOID:13476 SCTID:187842004 ICD10:C32.1 NCIT:C3545 ICD9:161.1 UMLS:C0153484" +MONDO:0001724 "A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas." "DOID:13476 SCTID:187842004 NCIT:C3545 ICD9:161.1 ICD10CM:C32.1 UMLS:C0153484" UBERON:0011139 GO:0033239 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amines." -MONDO:0017003 "ICD10:Q99.8 Orphanet:263726" -MONDO:0019668 "ICD10:D13.6 UMLS:C4076724 MedDRA:10058902 MESH:C538110 UMLS:C1142432 SCTID:208061000119101 Orphanet:93292 GARD:0004204" +MONDO:0017003 "ICD10CM:Q99.8 Orphanet:263726" +MONDO:0019668 "UMLS:C4076724 MedDRA:10058902 MESH:C538110 UMLS:C1142432 SCTID:208061000119101 Orphanet:93292 GARD:0004204 ICD10CM:D13.6" SO:0000453 "A chromosome structure variant whereby a region of a chromosome has been transferred to another position. Among interchromosomal rearrangements, the term transposition is reserved for that class in which the telomeres of the chromosomes involved are coupled (that is to say, form the two ends of a single DNA molecule) as in wild-type." MONDO:0003297 "A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "DOID:5140 UMLS:C1333745 NCIT:C5747" -MONDO:0003749 "A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas." "SCTID:37657006 SCTID:30811009 DOID:6050 UMLS:C0014852 ICD9:530 NCIT:C3027 ICD9:530.20 MESH:D004935 ICD10:K22.9 ICD9:530.2 ICD9:530.9" -MONDO:0013526 "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene." "DOID:0111449 GARD:0003872 UMLS:C3279627 OMIM:614018 Orphanet:280620 ICD10:G40.3" +MONDO:0003749 "A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas." "SCTID:37657006 SCTID:30811009 DOID:6050 UMLS:C0014852 ICD9:530 NCIT:C3027 ICD9:530.20 MESH:D004935 ICD9:530.2 ICD10CM:K20-K31 ICD9:530.9" +MONDO:0013526 "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene." "DOID:0111449 GARD:0003872 UMLS:C3279627 OMIM:614018 Orphanet:280620 ICD10CM:G40.3" MONDO:0000154 MONDO:0004353 "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts." "DOID:7752 UMLS:C1333511 NCIT:C7124" MONDO:0014535 "UMLS:C0342283 OMIM:616214 SCTID:237613005 MESH:C562776 ICD9:250.80" MONDO:0020655 "SCTID:239805001 DOID:0040092" -MONDO:0016904 "Orphanet:262038 ICD10:Q93.5" +MONDO:0016904 "ICD10CM:Q93.5 Orphanet:262038" MONDO:0018202 "UMLS:CN204712 Orphanet:363582" MONDO:0044622 "Orphanet:485418" -MONDO:0019942 "A muscle tissue disease characterized by congenital joint contractures of hand and feet." "Orphanet:1147 ICD10:Q68.8 GARD:0000786 DOID:0050646 Orphanet:97120 SCTID:24269006 OMIMPS:108120" +MONDO:0019942 "A muscle tissue disease characterized by congenital joint contractures of hand and feet." "Orphanet:1147 GARD:0000786 DOID:0050646 Orphanet:97120 SCTID:24269006 ICD10CM:Q68.8 OMIMPS:108120" MONDO:0003527 "OBSOLETE. A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae." MONDO:0015707 "Orphanet:169346" -MONDO:0001351 "ICD9:183.9 ICD9:183 ICD10:C57.4 DOID:11747" -MONDO:0009705 "Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." "Orphanet:156 MESH:C535588 ICD9:277.85 ICD10:E71.3 OMIM:255120 SCTID:238001003 GARD:0001120 UMLS:C1829703 NCIT:C98871 HGNC:2328 DOID:0090129" -MONDO:0018481 "An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation." "ICD10:C15.2 ICD10:C15.5 ICD10:C15.0 ICD10:C15.3 ICD10:C15.8 UMLS:CN237469 ICD10:C15.1 ICD10:C15.4 Orphanet:418951 UMLS:C2188058 NCIT:C27422" +MONDO:0001351 "ICD9:183.9 ICD9:183 DOID:11747" +MONDO:0009705 "Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." "Orphanet:156 MESH:C535588 ICD9:277.85 OMIM:255120 SCTID:238001003 ICD10CM:E71.3 GARD:0001120 UMLS:C1829703 NCIT:C98871 HGNC:2328 DOID:0090129" +MONDO:0018481 "An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation." "UMLS:CN237469 Orphanet:418951 UMLS:C2188058 NCIT:C27422" MONDO:0000807 "Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein." "MESH:D020315 ICD9:V15.07 DOID:0060532 ICD9:989.82 ICD9:995.3 SCTID:300916003" -MONDO:0017004 "ICD10:Q99.8 Orphanet:263731" +MONDO:0017004 "ICD10CM:Q99.8 Orphanet:263731" MONDO:0013739 "Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene." "Orphanet:90280 OMIM:614415 UMLS:C3280721" MONDO:0012139 "UMLS:C3888009 OMIM:608850" UBERON:0036523 -MONDO:0004572 "An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood." "DOID:845 ICD9:301.10 SCTID:76105009 ICD9:301.13 ICD9:301.1 ICD10:F34.0 MESH:D003527" +MONDO:0004572 "An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood." "DOID:845 ICD10CM:F34.0 ICD9:301.10 SCTID:76105009 ICD9:301.13 ICD9:301.1 MESH:D003527" MONDO:0024621 "A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures." "NCIT:C3778 ICDO:8441/3 UMLS:C0206701" GO:0010975 "Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites)." http://identifiers.org/hgnc/11557 MONDO:0040922 "UMLS:C0275842 SCTID:186867005" -MONDO:0011877 "Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." "MESH:C536056 ICD10:Q78.2 UMLS:C1843330 OMIM:607634 DOID:0110937 GARD:0004151 Orphanet:2783" +MONDO:0011877 "Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." "MESH:C536056 ICD10CM:Q78.2 UMLS:C1843330 OMIM:607634 DOID:0110937 GARD:0004151 Orphanet:2783" MONDO:0003865 "A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells." "NCIT:C4022 ONCOTREE:ACRM DOID:6367 GARD:0009570 ICDO:8744/3 UMLS:C0346037 HP:0012060 SCTID:254732008" MONDO:0022965 "A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)" "ONCOTREE:DIG UMLS:C1321878 GARD:0008648 NCIT:C4738" GO:0048103 "The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line." GO:0002443 "Any process involved in the carrying out of an immune response by a leukocyte." -MONDO:0015706 "UMLS:CN073987 ICD10:Q92.1 Orphanet:1692" +MONDO:0015706 "ICD10CM:Q92.1 UMLS:CN073987 Orphanet:1692" MONDO:0000321 "A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss." "DOID:0050383 UMLS:C0473876 SCTID:398554008" MONDO:0017001 "Orphanet:263720" -MONDO:0019662 "OMIM:613091 SCTID:72922008 GARD:0004833 OMIM:263520 ICD9:756.3 ICD10:Q77.2 Orphanet:93269" +MONDO:0019662 "OMIM:613091 SCTID:72922008 GARD:0004833 OMIM:263520 ICD9:756.3 ICD10CM:Q77.2 Orphanet:93269" MONDO:0005159 "A carcinoma that arises from epithelial cells of the prostate gland." "DOID:10286 KEGG:05215 UMLS:C0600139 EFO:0001663 NCIT:C4863" -MONDO:0020555 "A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent." "ICD10:C34.1 ICD10:C34.8 NCIT:C45626 ICD10:C34.2 ICD10:C34.9 SCTID:707671008 Orphanet:99933 UMLS:CN207457 ICD9:162.9 ICD10:C34.3" -MONDO:0011996 "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival." "DOID:8552 ICDO:9875/3 OMIM:608232 UMLS:C0023473 NCIT:C3177 EFO:0000339 ONCOTREE:CML ICD10:C92.1 KEGG:05220 NCIT:C3174 Orphanet:521 ICDO:9863/3 MedDRA:10009013 GARD:0006105 ICD9:205.1" +MONDO:0020555 "A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent." "NCIT:C45626 Orphanet:99933 SCTID:707671008 UMLS:CN207457 ICD9:162.9" +MONDO:0011996 "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival." "DOID:8552 ICDO:9875/3 OMIM:608232 UMLS:C0023473 NCIT:C3177 EFO:0000339 ONCOTREE:CML KEGG:05220 NCIT:C3174 Orphanet:521 ICDO:9863/3 MedDRA:10009013 GARD:0006105 ICD9:205.1" MONDO:0010517 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene." "UMLS:C4478372 UMLS:CN240511 OMIM:300991" -MONDO:0024303 "The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate." "ICD10:B88.3 UMLS:C0392037 SCTID:1086871000119109" +MONDO:0024303 "The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate." "UMLS:C0392037 SCTID:1086871000119109 ICD10CM:B88.3" CL:0005012 "A ciliated epithelial cell with many cilium." MONDO:0000152 "OMIMPS:249270" CHEBI:35134 MONDO:0018200 "Orphanet:363567" MONDO:0018466 http://identifiers.org/hgnc/11556 -MONDO:0016902 "ICD10:Q93.5 Orphanet:262019" +MONDO:0016902 "Orphanet:262019 ICD10CM:Q93.5" GO:0098976 "Synaptic transmission that results in an excitatory postsynaptic potential." GO:0045321 "A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor." MONDO:0016069 GO:0002717 "Any process that activates or increases the frequency, rate, or extent of natural killer cell mediated immunity." CHEBI:33836 MONDO:0017002 "Orphanet:263723" -MONDO:0015704 "Orphanet:169163 ICD10:Q75.0 MedDRA:10072229" +MONDO:0015704 "Orphanet:169163 MedDRA:10072229 ICD10CM:Q75.0" MONDO:0100450 "An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients." MONDO:0011070 "Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene." "OMIM:601390 Orphanet:314679 DOID:0080585" MONDO:0037255 "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage." "NCIT:C8431 UMLS:C0476122" @@ -26999,25 +26980,25 @@ MONDO:0022759 "Trisomy 22 is a chromosome disorder in which an extra (third) cop MONDO:0000151 "SCTID:253975004" GO:0030210 "The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues." MONDO:0015846 "A uterovaginal malformation that is part of a larger syndrome." "Orphanet:180148 UMLS:CN226751" -MONDO:0019565 "Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N)." "MedDRA:10047715 GARD:0007867 Orphanet:903 MESH:D014842 ICD10:D68.0 SCTID:234446004 SCTID:128105004 OMIM:314560 OMIM:193400 ICD9:286.4 MESH:C531844 OMIM:613554 DOID:12531 NCIT:C68677 UMLS:C0042974 ICD10:D69.8 OMIM:277480" -MONDO:0014446 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene." "ICD10:Q87.89 DOID:0110140 OMIM:615995 UMLS:C3806174" +MONDO:0019565 "Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N)." "MedDRA:10047715 GARD:0007867 Orphanet:903 MESH:D014842 SCTID:234446004 SCTID:128105004 OMIM:314560 ICD10CM:D68.0 OMIM:193400 ICD9:286.4 MESH:C531844 OMIM:613554 DOID:12531 NCIT:C68677 UMLS:C0042974 OMIM:277480" +MONDO:0014446 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene." "DOID:0110140 OMIM:615995 UMLS:C3806174" GO:0045906 "Any process that stops, prevents, or reduces the frequency, rate or extent of vasoconstriction." -MONDO:0006337 "A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." "NCIT:C27628 UMLS:C0156344 EFO:1000418 ICD9:617.1 ICD10:N80.1 DOID:11432 SCTID:266589005" +MONDO:0006337 "A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." "NCIT:C27628 UMLS:C0156344 EFO:1000418 ICD9:617.1 ICD10CM:N80.1 DOID:11432 SCTID:266589005" MONDO:0020650 "ONCOTREE:VGCT" MONDO:0012279 "The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. Itusually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans." "GARD:0003855 DOID:0110638 OMIM:609456 MESH:C563716 UMLS:C1836133" CHEBI:35136 -MONDO:0018500 "Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances." "MESH:D007815 SCTID:19362000 Orphanet:423717 GARD:0001629 ICD9:126.9 ICD10:B76.9" +MONDO:0018500 "Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances." "ICD10CM:B76.9 MESH:D007815 SCTID:19362000 Orphanet:423717 GARD:0001629 ICD9:126.9" MONDO:0006804 "An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma." "MedDRA:10006205 SCTID:254840009 ICDO:8530/3 GARD:0006784 NCIT:C4001 EFO:1000984 UMLS:C0278601 ONCOTREE:IBC MESH:D058922 DOID:6263" NCBITaxon:27973 "GC_ID:1" -MONDO:0005315 "Breaks in bones." "MESH:D050723 NCIT:C3046 SCTID:125605004 EFO:0003931" -MONDO:0015703 "ICD10:D81.2 OMIM:615615 Orphanet:169160 OMIM:615617 OMIM:610163" -MONDO:0012675 "Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists." "OMIM:611489 DOID:0090030 GARD:0013101 ICD10:E27.8 UMLS:C1852529 Orphanet:199247" +MONDO:0005315 "Breaks in bones." "MESH:D050723 NCIT:C3046 SCTID:125605004 EFO:0003931 ICD10CM:M97-M97" +MONDO:0015703 "ICD10CM:D81.2 OMIM:615615 Orphanet:169160 OMIM:615617 OMIM:610163" +MONDO:0012675 "Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists." "OMIM:611489 DOID:0090030 ICD10CM:E27.8 GARD:0013101 UMLS:C1852529 Orphanet:199247" MONDO:0000150 HP:0010651 "An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater." "UMLS:C4023758" http://identifiers.org/hgnc/29605 MONDO:0016900 MONDO:0005252 "Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." "EFO:0003144 SCTID:84114007 MESH:D006333 NCIT:C50577 ICD9:428.9 ICD9:428 UMLS:CN236639" -MONDO:0007836 "IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." "OMIM:147750 ICD10:Q71.8 GARD:0000269 DOID:0111381 Orphanet:2307 MESH:C535544 UMLS:C1327918 SCTID:722019000" +MONDO:0007836 "IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss." "ICD10CM:Q71.8 OMIM:147750 GARD:0000269 DOID:0111381 Orphanet:2307 MESH:C535544 UMLS:C1327918 SCTID:722019000" GO:2001252 "Any process that activates or increases the frequency, rate or extent of chromosome organization." ECTO:7000114 "A exposure event involving the interaction of an exposure receptor to aerosol." MONDO:0040925 "UMLS:C0153240 SCTID:186973005" @@ -27030,7 +27011,7 @@ MONDO:0017000 "Orphanet:263717" MONDO:0019663 MONDO:0002229 "A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor." "UMLS:C0341823 NCIT:C4381 DOID:2152 ICD9:239.5 ONCOTREE:OVT SCTID:237057005" MONDO:0017266 "Orphanet:281103 UMLS:C4511307 SCTID:724837004" -MONDO:0015702 "UMLS:C1837028 DOID:0060014 ICD10:D81.2 OMIM:608971 Orphanet:169157" +MONDO:0015702 "UMLS:C1837028 DOID:0060014 ICD10CM:D81.2 OMIM:608971 Orphanet:169157" MONDO:0024237 "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system." "UMLS:C3273225 UMLS:CN200549 NCIT:C97073 MESH:D020271 Orphanet:183500" MONDO:0015968 "Orphanet:183628 UMLS:CN200567" MONDO:0002461 "Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli." "SCTID:80321008 HP:0000793 MESH:D015432 NCIT:C34644 DOID:2920 UMLS:C0017662" @@ -27045,7 +27026,7 @@ GO:0034767 "Any process that activates or increases the frequency, rate or exten MONDO:0007303 "A rib that is attached to a cervical vertebra or enlarged transverse processes." "EFO:1000861 SCTID:72535009 HP:0000891 OMIM:117900 MedDRA:10008301 NCIT:C158329 MESH:D002573 ICD9:756.2" MONDO:0013592 "SCTID:87065009 ICD9:703.8 UMLS:C3279947 Orphanet:79143 Orphanet:90390 DOID:0080087 OMIM:614149" MONDO:0035122 "Orphanet:589547" -MONDO:0018555 "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis." "OMIMPS:147950 OMIM:612370 Orphanet:478 OMIM:614841 NCIT:C113347 OMIM:614839 DOID:7455 DOID:0090070 ICD9:253.4 OMIM:614837 OMIM:615266 OMIM:615269 OMIM:615270 OMIM:146110 OMIM:610628 OMIM:614880 OMIM:308700 Orphanet:432 OMIM:614858 UMLS:CN235466 SCTID:33927004 OMIM:614838 HP:0000044 OMIM:612702 OMIM:614842 ICD10:E23.0 OMIM:614840 OMIM:147950 OMIM:244200" +MONDO:0018555 "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis." "OMIMPS:147950 OMIM:612370 Orphanet:478 OMIM:614841 NCIT:C113347 OMIM:614839 DOID:7455 DOID:0090070 ICD9:253.4 OMIM:614837 OMIM:615266 OMIM:615269 OMIM:615270 OMIM:146110 OMIM:610628 OMIM:614880 OMIM:308700 ICD10CM:E23.0 Orphanet:432 OMIM:614858 UMLS:CN235466 SCTID:33927004 OMIM:614838 HP:0000044 OMIM:612702 OMIM:614842 OMIM:614840 OMIM:147950 OMIM:244200" UBERON:0009199 MONDO:0008828 "Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis." "EFO:0009028 MESH:C537560 OMIM:208250 GARD:0000306 DOID:0090127 Orphanet:2848" MONDO:0014790 "UMLS:C4225190 OMIM:616829 DOID:0070268 Orphanet:466703" @@ -27056,18 +27037,18 @@ CL:1000391 "A melanocyte that is part of the eyelid." "FMA:59175" GO:0022604 "Any process that modulates the frequency, rate or extent of cell morphogenesis. Cell morphogenesis is the developmental process in which the shape of a cell is generated and organized." MONDO:0005624 "Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter." "UMLS:C0238183 EFO:0006813 SCTID:83664006" MONDO:0032629 "OMIM:618246" -MONDO:0004651 "A condition that is caused by infection with Variola, and that is characterized by small, raised bumps." "UMLS:C0037354 MESH:D012899 ICD9:050 GARD:0007444 NCIT:C35027 ICD10:B03 ICD9:050.9 SCTID:47452006 SCTID:67924001 DOID:8736" +MONDO:0004651 "A condition that is caused by infection with Variola, and that is characterized by small, raised bumps." "UMLS:C0037354 MESH:D012899 ICD9:050 GARD:0007444 NCIT:C35027 ICD10CM:B03 ICD9:050.9 SCTID:47452006 SCTID:67924001 DOID:8736" http://identifiers.org/hgnc/23505 http://identifiers.org/hgnc/3337 -MONDO:0018327 "A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities." "ICD9:239.7 ICDO:8711/0 MESH:D005918 Orphanet:391651 ICD10:D18.0 DOID:2431 UMLS:C0017653 NCIT:C3060 SCTID:403969002" +MONDO:0018327 "A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities." "ICD9:239.7 ICDO:8711/0 MESH:D005918 Orphanet:391651 ICD10CM:D18.0 DOID:2431 UMLS:C0017653 NCIT:C3060 SCTID:403969002" MONDO:0004954 GO:0006749 "The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle." MONDO:0013369 "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene." "UMLS:C1860752 DOID:0110313 OMIM:613690" -MONDO:0010832 "GARD:0000822 MESH:C537911 OMIM:600151 OMIM:209900 DOID:0110125 ICD10:Q87.89 Orphanet:110 UMLS:C1859564" +MONDO:0010832 "GARD:0000822 MESH:C537911 OMIM:600151 OMIM:209900 DOID:0110125 Orphanet:110 UMLS:C1859564" CL:2000072 "Any microvascular endothelial cell that is part of a adipose tissue." GO:0016881 "Catalysis of the ligation of an acid to an amino acid via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate." NCBITaxon:39087 "GC_ID:1" -MONDO:0018422 "Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities." "Orphanet:401835 ICD10:G11.4 UMLS:CN226129" +MONDO:0018422 "Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities." "Orphanet:401835 ICD10CM:G11.4 UMLS:CN226129" MONDO:0014791 "UMLS:C4085873 OMIM:616831" MONDO:0006251 MONDO:0032628 "OMIM:618245" @@ -27088,11 +27069,11 @@ MONDO:0035124 "Orphanet:589608" MONDO:0014792 "OMIM:616833 UMLS:C4085250" MONDO:0011199 "OMIM:602114 Orphanet:171 UMLS:C1865831 MESH:C566573" http://identifiers.org/hgnc/23508 -MONDO:0007237 "Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal." "ICD10:N62 UMLS:CN226754 MESH:C536821 Orphanet:180176 OMIM:113670" -MONDO:0011539 "Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community." "GARD:0008334 MESH:C538397 DOID:0110936 UMLS:C1854380 OMIM:605355 ICD10:G71.2 Orphanet:607 Orphanet:98902" +MONDO:0007237 "Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal." "ICD10CM:N62 UMLS:CN226754 MESH:C536821 Orphanet:180176 OMIM:113670" +MONDO:0011539 "Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community." "GARD:0008334 MESH:C538397 DOID:0110936 UMLS:C1854380 OMIM:605355 ICD10CM:G71.2 Orphanet:607 Orphanet:98902" GO:0097384 "The chemical reactions and pathways resulting in the formation of lipids, as carried out by individual cells." MONDO:0006252 -MONDO:0005886 "Infection of the mucosal lining of the mouth with the fungus Candida albicans." "NCIT:C28137 UMLS:C0006849 SCTID:78048006 SCTID:79740000 MESH:D002180 ICD10:B37.9 DOID:14262 ICD9:112.0 ICD10:B37.0 EFO:0007406" +MONDO:0005886 "Infection of the mucosal lining of the mouth with the fungus Candida albicans." "NCIT:C28137 UMLS:C0006849 SCTID:78048006 SCTID:79740000 MESH:D002180 DOID:14262 ICD9:112.0 EFO:0007406" MONDO:0002557 http://identifiers.org/hgnc/5996 MONDO:0006454 "OBSOLETE. A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." @@ -27104,10 +27085,10 @@ MONDO:0001359 MONDO:0007451 "OMIM:125800 UMLS:C1563706 Orphanet:223" UBERON:0009198 MONDO:0012454 "Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment." "OMIM:610251 GARD:0012634" -MONDO:0008928 "Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive." "MESH:C538283 OMIM:212710 ICD10:G11.2 GARD:0001141 Orphanet:1368 UMLS:C0796123" +MONDO:0008928 "Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive." "MESH:C538283 OMIM:212710 GARD:0001141 Orphanet:1368 ICD10CM:G11.2 UMLS:C0796123" FOODON:03301977 "A liquid prepared for consumption, or a product that can be combined with water or milk to make one."@en MONDO:0004085 "A epithelioid cell melanoma that involves the optic choroid." "UMLS:C1333024 DOID:7041 NCIT:C6102" -MONDO:0018229 "Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area." "ICD9:695.13 UMLS:C0014518 MESH:D013262 NCIT:C79777 OMIM:608579 SCTID:73442001 NCIT:C79484 MedDRA:10042033 ICD9:695.12 EFO:0004276 UMLS:C0038325 GARD:0007700 ICD10:L51.2 DOID:0050426 ICD10:L51.1 ICD9:695.15 Orphanet:36426 SCTID:23067006" +MONDO:0018229 "Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area." "ICD9:695.13 UMLS:C0014518 ICD10CM:L51.1 MESH:D013262 NCIT:C79777 OMIM:608579 SCTID:73442001 NCIT:C79484 MedDRA:10042033 ICD9:695.12 EFO:0004276 UMLS:C0038325 GARD:0007700 DOID:0050426 ICD9:695.15 Orphanet:36426 SCTID:23067006" MONDO:0014793 "Orphanet:488168 UMLS:C4225189 OMIM:616834" MONDO:0014703 "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene." "OMIM:616589 UMLS:C4225271" MONDO:0044880 "ONCOTREE:PACT" @@ -27116,8 +27097,8 @@ http://identifiers.org/hgnc/4539 MONDO:0012397 "OMIM:610023 MESH:C566484 UMLS:C1864901" MONDO:0012131 "Orphanet:498485 MESH:C537355 GARD:0010066 OMIM:608811 UMLS:C1837316" MONDO:0006253 -MONDO:0010446 "X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28." "SCTID:718718009 ICD10:H53.8 OMIM:300843 Orphanet:90001 UMLS:C3159311 MESH:C564092" -MONDO:0011108 "A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality." "OMIM:601559 SCTID:254097005 Orphanet:3206 ICD10:Q78.8 UMLS:C0432240 UMLS:C0796176 MESH:C537502 GARD:0005045" +MONDO:0010446 "X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28." "SCTID:718718009 OMIM:300843 Orphanet:90001 UMLS:C3159311 MESH:C564092 ICD10CM:H53.8" +MONDO:0011108 "A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality." "OMIM:601559 SCTID:254097005 Orphanet:3206 ICD10CM:Q78.8 UMLS:C0432240 UMLS:C0796176 MESH:C537502 GARD:0005045" PATO:0010001 "A structural quality inhering in the bearer by virtue of the bearer consisting of multiple structures lacking any physical connection to each other." http://identifiers.org/hgnc/26262 MONDO:0042484 "SCTID:91051003 UMLS:C0276725" @@ -27130,18 +27111,18 @@ HP:0011025 "Abnormal functionality of the cardiovascular system." "UMLS:C4023587 http://identifiers.org/hgnc/19185 HP:0009815 "Absence (due to failure to form) or underdevelopment of the extremities." "UMLS:C0239399" NCIT:C77140 -MONDO:0018544 "A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." "OMIM:300100 GARD:0005758 MESH:D000326 OMIM:302700 ICD10:E71.52 ICD10:E71.529 ICD10:E71.3 DOID:10588 MedDRA:10051260 ICD9:341.1 ICD10:G37.0 NCIT:C61252 Orphanet:43" +MONDO:0018544 "A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." "OMIM:300100 GARD:0005758 MESH:D000326 OMIM:302700 ICD10CM:E71.3 DOID:10588 MedDRA:10051260 ICD9:341.1 NCIT:C61252 Orphanet:43" MONDO:0032625 "OMIM:618242" GO:0007507 "The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood." MONDO:0034186 "Orphanet:562538" FOODON:00001785 -MONDO:0100121 "Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy." "https://www.clinicalgenome.org/affiliation/40061/" -MONDO:0008762 "Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed." "OMIM:203780 DOID:0110033 Orphanet:63 ICD10:Q87.8 Orphanet:88919 GARD:0000625 SCTID:717767009 MedDRA:10001843" -MONDO:0006527 "Lack of sweating or the ability to sweat when provoked by the appropriate stimulus." "ICD9:705.0 OMIM:206600 ICD10:L74.4 MESH:D007007 EFO:1000670 SCTID:39659002 NCIT:C34385 DOID:11156" -MONDO:0017009 "Orphanet:263775 ICD10:Q99.8 GARD:0012421" +MONDO:0100121 "Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy." +MONDO:0008762 "Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed." "OMIM:203780 ICD10CM:Q87.8 DOID:0110033 Orphanet:63 Orphanet:88919 GARD:0000625 SCTID:717767009 MedDRA:10001843" +MONDO:0006527 "Lack of sweating or the ability to sweat when provoked by the appropriate stimulus." "ICD9:705.0 OMIM:206600 MESH:D007007 EFO:1000670 SCTID:39659002 NCIT:C34385 ICD10CM:L74.4 DOID:11156" +MONDO:0017009 "Orphanet:263775 ICD10CM:Q99.8 GARD:0012421" MONDO:0021253 "A neoplasm (disease) that involves the gall bladder." "NCIT:C3048 UMLS:C0016978" PATO:0000984 "A porosity quality inhering in a bearer by virtue of the bearer's being capable of admitting the passage of gas or liquid through pores or interstices." -MONDO:0007200 "Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." "SCTID:717913006 UMLS:C0796197 ICD10:Q87.0 OMIM:110050 MESH:C536303 Orphanet:1252 GARD:0004238" +MONDO:0007200 "Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." "SCTID:717913006 UMLS:C0796197 OMIM:110050 MESH:C536303 Orphanet:1252 ICD10CM:Q87.0 GARD:0004238" UBERON:0012337 MONDO:0013330 "UMLS:C3150887 OMIM:613623" MONDO:0012398 "OMIM:610024 MESH:C566483 GARD:0010648 UMLS:C1864900 Orphanet:49382" @@ -27151,7 +27132,7 @@ MONDO:0006232 "A painless, well circumscribed tumor arising in soft tissue, usua MONDO:0033821 "Orphanet:519930" UBERON:0005239 MONDO:0010836 "OMIM:600165 Orphanet:35612 MESH:C563983 UMLS:C1838502" -MONDO:0018208 "OMIM:162200 DOID:0111253 ICD10:Q85.0 Orphanet:363700 UMLS:CN204726" +MONDO:0018208 "OMIM:162200 DOID:0111253 Orphanet:363700 ICD10CM:Q85.0 UMLS:CN204726" HP:0100299 "UMLS:C4022159" MONDO:0032624 "OMIM:618241" MONDO:0000190 "A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)" "HP:0001663 UMLS:C0042510 NCIT:C50799 EFO:0004287 SCTID:71908006 MESH:D014693 ICD9:427.41" @@ -27160,20 +27141,20 @@ MONDO:0014795 "UMLS:C4225187 OMIM:616839" MONDO:0012133 "GARD:0010067 MESH:C537879 UMLS:C1837314 OMIM:608814" CL:2000015 "Any skin fibroblast that is part of a arm." GO:0009889 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances." -MONDO:0016006 "Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." "OMIM:610756 OMIM:278780 ICD10:Q87.1 UMLS:C0009207 SCTID:21086008 OMIM:216400 Orphanet:90324 Orphanet:90321 OMIM:214150 MedDRA:10009835 Orphanet:90322 MESH:D003057 OMIM:216411 OMIM:610758 DOID:2962 NCIT:C9460 ICD9:759.89 Orphanet:191 OMIM:133540 GARD:0006122 OMIM:616570" -MONDO:0012193 "Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed." "MESH:C563794 DOID:0110306 OMIM:609115 GARD:0012531 Orphanet:55596 ICD10:G71.0 SCTID:719990003" +MONDO:0016006 "Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." "OMIM:610756 OMIM:278780 UMLS:C0009207 SCTID:21086008 OMIM:216400 Orphanet:90324 Orphanet:90321 OMIM:214150 MedDRA:10009835 Orphanet:90322 MESH:D003057 ICD10CM:Q87.1 OMIM:216411 OMIM:610758 DOID:2962 NCIT:C9460 ICD9:759.89 Orphanet:191 OMIM:133540 GARD:0006122 OMIM:616570" +MONDO:0012193 "Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed." "MESH:C563794 ICD10CM:G71.0 DOID:0110306 OMIM:609115 GARD:0012531 Orphanet:55596 SCTID:719990003" GO:0045985 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases." CHR:9606-chr2q33.1 MONDO:0000159 "MESH:C536572 OMIMPS:614675 UMLS:C2931245" MONDO:0032623 "OMIM:618240" -MONDO:0001713 "An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia." "SCTID:28975000 ICD10:D61.0 UMLS:C0949116 ICD9:284.09 DOID:1342 Orphanet:68383 UMLS:C0702159 GARD:0006149 ICD10:D61.01 MESH:D029502 ICD9:284.0" -MONDO:0010708 "W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant." "UMLS:C0796110 ICD10:Q87.8 MESH:C538106 SCTID:719020006 Orphanet:2804 OMIM:311450 GARD:0000358" +MONDO:0001713 "An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia." "SCTID:28975000 UMLS:C0949116 ICD9:284.09 DOID:1342 Orphanet:68383 UMLS:C0702159 GARD:0006149 MESH:D029502 ICD10CM:D61.0 ICD9:284.0" +MONDO:0010708 "W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant." "UMLS:C0796110 ICD10CM:Q87.8 MESH:C538106 SCTID:719020006 Orphanet:2804 OMIM:311450 GARD:0000358" GO:0048871 "Any process involved in the maintenance of an internal steady state at the level of the multicellular organism." MONDO:0000315 "A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder." "DOID:0050339" GO:0071072 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids." -MONDO:0019669 "DOID:0080044 ICD10:Q77.0 Orphanet:93297 OMIM:200610" +MONDO:0019669 "ICD10CM:Q77.0 DOID:0080044 Orphanet:93297 OMIM:200610" UBERON:0012336 -MONDO:0017872 "Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission." "ICD10:A96.8 DOID:0050202 UMLS:CN203921 Orphanet:319213 SCTID:716585008 UMLS:C4274433" +MONDO:0017872 "Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission." "DOID:0050202 UMLS:CN203921 Orphanet:319213 ICD10CM:A96.8 SCTID:716585008 UMLS:C4274433" MONDO:0020680 "Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus." "SCTID:5505005 ICD9:466.19 UMLS:C0001311 ICD9:466.1 NCIT:C39659" HP:0031097 "Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland." MONDO:0004274 "An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous." "DOID:7541 NCIT:C40364 UMLS:C1513365 ONCOTREE:MMBC" @@ -27187,10 +27168,10 @@ GO:0005719 http://identifiers.org/hgnc/23503 HP:0002651 "UMLS:C0432211 SNOMEDCT_US:254062008" http://identifiers.org/hgnc/25902 -MONDO:0019438 "AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ." "UMLS:C0268381 MedDRA:10036673 MESH:C531616 ICD10:E85.9 Orphanet:85443 GARD:0005797 OMIM:254500" +MONDO:0019438 "AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ." "UMLS:C0268381 ICD10CM:E85.9 MedDRA:10036673 MESH:C531616 Orphanet:85443 GARD:0005797 OMIM:254500" http://identifiers.org/hgnc/5992 -MONDO:0011014 "A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas." "NCIT:C5669 ICD10:C34.3 SCTID:707670009 OMIM:601200 GARD:0008757 Orphanet:64742 ICD9:162.9 ICD10:C34.9 EFO:0009052 DOID:4769 ICD10:C34.2 ICDO:8973/3 ONCOTREE:PPB ICD10:C34.1 UMLS:C1266144 MESH:C537516 Orphanet:284343 UMLS:CN072455" -MONDO:0017007 "Orphanet:263756 ICD10:Q99.8" +MONDO:0011014 "A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas." "NCIT:C5669 ICD10CM:C34.9 SCTID:707670009 OMIM:601200 GARD:0008757 Orphanet:64742 ICD9:162.9 EFO:0009052 DOID:4769 ICD10CM:C34.3 ICDO:8973/3 ONCOTREE:PPB UMLS:C1266144 ICD10CM:C34.1 ICD10CM:C34.2 MESH:C537516 Orphanet:284343 UMLS:CN072455" +MONDO:0017007 "Orphanet:263756 ICD10CM:Q99.8" UBERON:0008836 http://identifiers.org/hgnc/6091 MONDO:0013332 "UMLS:C3150890 OMIM:613627 SCTID:719162001" @@ -27198,14 +27179,14 @@ MONDO:0012829 "An inflammatory bowel disease that has material basis in variatio MONDO:0012134 "OMIM:608816 DOID:0111326 Orphanet:307 UMLS:C1837308" MONDO:0014797 "UMLS:C4225184 OMIM:616843 EFO:0009153" CL:1001585 "Glandular cell of appendix epithelium. Example: Goblet cells; enterocytes or absorptive cells; enteroendocrine and M cells." "CALOHA:TS-1271" -MONDO:0010668 "Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked." "ICD10:Q87.5 OMIM:309620 MESH:C564101 Orphanet:1436 SCTID:722478008 UMLS:C1839729 GARD:0003520" +MONDO:0010668 "Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked." "ICD10CM:Q87.5 OMIM:309620 MESH:C564101 Orphanet:1436 SCTID:722478008 UMLS:C1839729 GARD:0003520" MONDO:0007508 "A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate." "OMIM:129400 Orphanet:1991 Orphanet:3022 MESH:C535289 DOID:0060330 UMLS:CN203427 SCTID:7731005 GARD:0005690" MONDO:0035121 "Orphanet:589542 NCIT:C129853" GO:0014057 "Any process that activates or increases the frequency, rate or extent of the regulated release of acetylcholine." MONDO:0003171 "A astrocytoma that involves the pineal body." "DOID:4858 NCIT:C8274 UMLS:C0280795" MONDO:0005322 "Fractures of the larger bone of the forearm." "SCTID:54556006 MESH:D014458 EFO:0003950" MONDO:0032626 "OMIM:618243" -MONDO:0018206 "ICD10:G71.2 Orphanet:363677 OMIM:605637" +MONDO:0018206 "Orphanet:363677 OMIM:605637 ICD10CM:G71.2" GO:0042165 "Binding to a neurotransmitter, any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell." CHEBI:51959 UBERON:0018691 @@ -27215,79 +27196,79 @@ MONDO:0009768 "Autosomal recessive form of oculodentodigital dysplasia." "GARD:0 MONDO:0004405 "An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002" "DOID:7941 UMLS:C1332460 EFO:1001939 SCTID:721617001 NCIT:C7027" MONDO:0016297 "A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition." "Orphanet:216445 SCTID:764098007" ENVO:01001044 "An environmental system which has its properties and dynamics determined by soil." -MONDO:0010526 "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." "NCIT:C27528 DOID:14499 ICD10:E75.21 ICD10:E75.2 Orphanet:324 OMIM:301500 MedDRA:10016016 MESH:D000795 GARD:0006400 NCIT:C84701 UMLS:C0002986 SCTID:16652001" +MONDO:0010526 "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." "NCIT:C27528 DOID:14499 Orphanet:324 OMIM:301500 MedDRA:10016016 MESH:D000795 GARD:0006400 NCIT:C84701 UMLS:C0002986 SCTID:16652001 ICD10CM:E75.2" MONDO:0000157 -MONDO:0011510 "Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported." "GARD:0010140 ICD10:Q87.8 Orphanet:97297 SCTID:720565000 MESH:C537419 OMIM:605039 UMLS:C0796232 NCIT:C131533" +MONDO:0011510 "Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported." "GARD:0010140 Orphanet:97297 SCTID:720565000 ICD10CM:Q87.8 MESH:C537419 OMIM:605039 UMLS:C0796232 NCIT:C131533" HP:0005832 "A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones." "UMLS:C1859444" GO:0043401 "A series of molecular signals mediated by a steroid hormone binding to a receptor." -MONDO:0007194 "A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection)." "OMIM:109730 Orphanet:1244 ICD10:Q23.1 Orphanet:402075 OMIMPS:109730 UMLS:C0428791 DOID:0080332 OMIM:614823" -MONDO:0017008 "Orphanet:263768 ICD10:Q99.8" +MONDO:0007194 "A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection)." "OMIM:109730 Orphanet:1244 ICD10CM:Q23.1 Orphanet:402075 OMIMPS:109730 UMLS:C0428791 DOID:0080332 OMIM:614823" +MONDO:0017008 "ICD10CM:Q99.8 Orphanet:263768" MONDO:0006068 "An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion." "UMLS:C1306214 NCIT:C7462 EFO:1000066" MONDO:0034189 "Orphanet:562639" UBERON:0008837 MONDO:0012135 "UMLS:C1837285 GARD:0009710 OMIM:608831" -MONDO:0016909 "Orphanet:262083 ICD10:Q93.5 UMLS:C0795839" -MONDO:0020554 "Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet." "ICD9:518.89 SCTID:707441009 ICD10:J99.8* Orphanet:99932 UMLS:CN207456 ICD10:E83.1+" +MONDO:0016909 "ICD10CM:Q93.5 Orphanet:262083 UMLS:C0795839" +MONDO:0020554 "Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet." "ICD9:518.89 SCTID:707441009 Orphanet:99932 ICD10EXP:E83.1+ UMLS:CN207456 ICD10EXP:J99.8*" UBERON:0003057 http://identifiers.org/hgnc/6481 CHEBI:26895 "A subclass of polyketides having an octahydrotetracene-2-carboxamide skeleton, substituted with many hydroxy and other groups." MONDO:0700125 "Chromosomal disorder in which chromosome 18 is affected." CHEBI:26764 "Any steroid that acts as hormone." -MONDO:0007251 "Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)." "OMIM:602196 DOID:0050463 ICD9:733.29 UMLS:C1861922 GARD:0010027 SCTID:74928006 OMIM:114290 OMIM:211990 UMLS:C1861923 ICD10:Q87.1 Orphanet:140 MESH:D055036 NCIT:C84609" +MONDO:0007251 "Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)." "OMIM:602196 DOID:0050463 ICD9:733.29 UMLS:C1861922 ICD10CM:Q87.1 GARD:0010027 SCTID:74928006 OMIM:114290 OMIM:211990 UMLS:C1861923 Orphanet:140 MESH:D055036 NCIT:C84609" http://identifiers.org/hgnc/11391 -MONDO:0011380 "A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect." "NCIT:C122664 Orphanet:99854 Orphanet:135 OMIM:603896 DOID:0060868 UMLS:C1847967 UMLS:CN199219 Orphanet:157719 Orphanet:99853 Orphanet:157713 SCTID:447351004 ICD10:E75.2 Orphanet:157716 GARD:0000231 OMIM:615889 UMLS:C1858991" -MONDO:0019873 "4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported." "SCTID:726706008 ICD10:Q92.3 UMLS:CN206808 UMLS:C4512053 Orphanet:96072" -MONDO:0019471 "A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa." "SCTID:110007008 GARD:0013103 ICD10:C91.50 Orphanet:86875 UMLS:C0023493 ICD10:C91.5 MedDRA:10001413 ICD9:204.80 DOID:0050523 ONCOTREE:ATLL ICDO:9827/3 NCIT:C3184" +MONDO:0011380 "A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect." "ICD10CM:E75.2 NCIT:C122664 Orphanet:99854 Orphanet:135 OMIM:603896 DOID:0060868 UMLS:C1847967 UMLS:CN199219 Orphanet:157719 Orphanet:99853 Orphanet:157713 SCTID:447351004 Orphanet:157716 GARD:0000231 OMIM:615889 UMLS:C1858991" +MONDO:0019873 "4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported." "SCTID:726706008 UMLS:CN206808 UMLS:C4512053 Orphanet:96072" +MONDO:0019471 "A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa." "SCTID:110007008 GARD:0013103 Orphanet:86875 UMLS:C0023493 MedDRA:10001413 ICD9:204.80 DOID:0050523 ONCOTREE:ATLL ICD10CM:C91.5 ICDO:9827/3 NCIT:C3184" NCBITaxon:90010 "GC_ID:1" MONDO:0013333 "An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations." "NCIT:C86969 OMIM:613628" MONDO:0013219 "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene." "OMIM:613312 MESH:C567647 Orphanet:289176 UMLS:C2750078" UBERON:0004254 -MONDO:0005124 "Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system." "OMIM:613223 OMIM:613407 ICD10:A30.9 MedDRA:10024229 NCIT:C84824 OMIM:246300 EFO:0001054 OMIM:607572 ICD10:A30.2 ICD9:030.8 OMIM:609888 ICD10:A30.0 UMLS:C0023343 ICD10:A30.3 Orphanet:548 ICD10:A30.4 ICD10:A30 ICD10:A30.1 GARD:0006886 MESH:D007918 ICD10:A30.8 OMIM:610988 DOID:1024 ICD10:A30.5 SCTID:81004002 ICD9:030 ICD9:030.9" +MONDO:0005124 "Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system." "OMIM:613223 OMIM:613407 ICD10CM:A30.0 MedDRA:10024229 NCIT:C84824 OMIM:246300 ICD10CM:A30 EFO:0001054 OMIM:607572 ICD10CM:A30.4 ICD9:030.8 OMIM:609888 ICD10CM:A30.2 UMLS:C0023343 ICD10CM:A30.1 Orphanet:548 ICD10CM:A30.8 ICD10CM:A30.5 ICD10CM:A30.3 GARD:0006886 MESH:D007918 OMIM:610988 DOID:1024 ICD10CM:A30.9 SCTID:81004002 ICD9:030 ICD9:030.9" MONDO:0015123 "OBSOLETE. Rare lipid metabolism disorder." "Orphanet:101953" CL:0000657 "One of the two haploid cells into which a primary spermatocyte divides, and which in turn gives origin to spermatids." "BTO:0000709 FMA:72293 CALOHA:TS-2195 FBbt:00004941" MONDO:0005613 "An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants." "EFO:0006719 ICDO:9110/3 NCIT:C4072" MONDO:0020584 "Any form of anemia that results from the absence of, or the defective action of, any enzyme." "NCIT:C35472 UMLS:C0494226" -MONDO:0001503 "SCTID:2251002 DOID:12349 ICD10:H44.44 UMLS:C0154782 ICD9:360.31" +MONDO:0001503 "SCTID:2251002 DOID:12349 UMLS:C0154782 ICD9:360.31" MONDO:0006172 "A benign melanocytic neoplasm that arises from the conjunctiva." "NCIT:C4551 DOID:0050906 SCTID:255006004 EFO:1000205 UMLS:C0346363" HP:0001262 "A state of abnormally strong desire for sleep during the daytime." "SNOMEDCT_US:79519003 SNOMEDCT_US:271782001 UMLS:C2830004" MONDO:0021026 "An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome." "Orphanet:183447" MONDO:0000305 -MONDO:0024306 "An instance of lactic acidosis that is acquired during the lifetime of the individual." "ICD10:E87.2 UMLS_CUI:C0001125 EFO:1000036 DOID:3650" +MONDO:0024306 "An instance of lactic acidosis that is acquired during the lifetime of the individual." "EFO:1000036 DOID:3650" UBERON:0003056 -MONDO:0001238 "A condition in which the red blood cell level is greater than established reference ranges in a newborn." "ICD10:P61.1 UMLS:C0272153 DOID:11242 NCIT:C27069 ICD9:776.4 SCTID:32984002" -MONDO:0005190 "Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." "ICD9:273.3 SCTID:190817009 DOID:9080 EFO:0002616 ICD10:C88.0 Wikipedia:Macroglobulinemia" +MONDO:0001238 "A condition in which the red blood cell level is greater than established reference ranges in a newborn." "UMLS:C0272153 DOID:11242 NCIT:C27069 ICD10CM:P61.1 ICD9:776.4 SCTID:32984002" +MONDO:0005190 "Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." "ICD9:273.3 SCTID:190817009 DOID:9080 EFO:0002616 Wikipedia:Macroglobulinemia" http://identifiers.org/hgnc/39080 NCIT:C35681 -MONDO:0019429 "X-linked neurodegenerative syndrome, Hamel type is an X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12." "UMLS:CN206187 SCTID:718847005 ICD10:G31.8 Orphanet:85336" +MONDO:0019429 "X-linked neurodegenerative syndrome, Hamel type is an X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12." "UMLS:CN206187 SCTID:718847005 ICD10CM:G31.8 Orphanet:85336" MONDO:0007238 "Absence of one or both mammary glands." "Orphanet:180188 SCTID:75474006 NCIT:C118459 UMLS:CN033494 MESH:C535565 GARD:0009489 OMIM:113700" -MONDO:0019190 "Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life." "OMIM:612242 Orphanet:79076 ICD10:D12.6 UMLS:CN205768" +MONDO:0019190 "Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life." "OMIM:612242 Orphanet:79076 ICD10CM:D12.6 UMLS:CN205768" CHEBI:33662 "A mancude monocyclic hydrocarbon without side chains of the general formula CnHn (n is an even number) or CnHn+1 (n is an odd number). In systematic nomenclature an annulene with seven or more carbon atoms may be named [n]annulene, where n is the number of carbon atoms." UBERON:0004255 CL:0002105 "A CD38-positive IgG memory B cell is a class switched memory B cell that expresses IgG on the cell surface with the phenotype CD38-positive and IgG-positive." UBERON:0003059 HsapDv:0000081 "Immature stage that refers to child who is over 2 and under 13 years old." -MONDO:0008852 "A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients." "MedDRA:10007982 OMIM:209880 MedDRA:10066131 ICD10:G47.3 GARD:0008535 DOID:0060731 UMLS:C1275808 SCTID:230499002 Orphanet:661 Orphanet:99803 NCIT:C98889" -MONDO:0019880 "Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism)." "Orphanet:96097 SCTID:763274002 ICD10:Q92.3" +MONDO:0008852 "A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients." "ICD10CM:G47.3 MedDRA:10007982 OMIM:209880 MedDRA:10066131 GARD:0008535 DOID:0060731 UMLS:C1275808 SCTID:230499002 Orphanet:661 Orphanet:99803 NCIT:C98889" +MONDO:0019880 "Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism)." "Orphanet:96097 SCTID:763274002" GO:1903510 "The chemical reactions and pathways involving mucopolysaccharide." NCBITaxon:210 "GC_ID:11 PMID:11931154 PMID:8186097 PMID:1995031 PMID:8494747" MONDO:0014171 "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene." "DOID:0090138 UMLS:C3809420 OMIM:615412" -MONDO:0012177 "Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." "MESH:C536343 OMIM:609033 UMLS:C4510304 GARD:0009898 UMLS:C1836916 SCTID:724065003 ICD10:G11.1 Orphanet:88628" +MONDO:0012177 "Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa." "MESH:C536343 OMIM:609033 UMLS:C4510304 ICD10CM:G11.1 GARD:0009898 UMLS:C1836916 SCTID:724065003 Orphanet:88628" GO:0007034 "The directed movement of substances into, out of or within a vacuole." GO:0033007 "Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation as part of an immune response." MONDO:0004547 "A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance." "NCIT:C39923 DOID:8392 UMLS:C1515308" UBERON:0004256 MONDO:0032840 -MONDO:0007526 "A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." "ICD10:Q79.6 Orphanet:75496 UMLS:C1869122 DOID:0050802 SCTID:720861000 OMIM:615349 MESH:C536201 GARD:0009991" -MONDO:0001767 "UMLS:C0155244 ICD9:375.52 DOID:13653 SCTID:74783009 ICD10:H04.56" -MONDO:0019309 "Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood." "GARD:0012921 UMLS:C4304724 SCTID:719432000 UMLS:CN205949 ICD10:Q81.8 Orphanet:79406" -MONDO:0019264 "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." "OMIM:609241 UMLS:C1836545 ICD10:E77.1 Orphanet:79281" -MONDO:0008139 "OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia." "ICD10:C41.9 Orphanet:2760 OMIM:165660 MESH:C537138 GARD:0004129 UMLS:C1833792 SCTID:733064004" +MONDO:0007526 "A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." "Orphanet:75496 UMLS:C1869122 DOID:0050802 SCTID:720861000 OMIM:615349 MESH:C536201 GARD:0009991 ICD10CM:Q79.6 OMIM:130070" +MONDO:0001767 "UMLS:C0155244 ICD9:375.52 DOID:13653 SCTID:74783009" +MONDO:0019309 "Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood." "GARD:0012921 UMLS:C4304724 SCTID:719432000 UMLS:CN205949 ICD10CM:Q81.8 Orphanet:79406" +MONDO:0019264 "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." "ICD10CM:E77.1 OMIM:609241 UMLS:C1836545 Orphanet:79281" +MONDO:0008139 "OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia." "ICD10CM:C41.9 Orphanet:2760 OMIM:165660 MESH:C537138 GARD:0004129 UMLS:C1833792 SCTID:733064004" http://identifiers.org/hgnc/25538 MONDO:0001612 "A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents." "HP:0100546 SCTID:64586002 UMLS:C0007282 ICD9:433.10 MESH:D016893 NCIT:C95804 DOID:13001" CL:0000557 "A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1." HP:0007773 "Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment." "UMLS:C1850109" GO:1903316 "Any process that activates or increases the frequency, rate or extent of nitrogen cycle metabolic process." -MONDO:0001769 "ICD10:H04.55 SCTID:193995004 ICD9:375.56 DOID:13655" +MONDO:0001769 "SCTID:193995004 ICD9:375.56 DOID:13655" http://identifiers.org/hgnc/28033 GO:0022613 "A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex." MONDO:0000303 "DOID:0050279 ICD9:111.8 SCTID:240783007 UMLS:C0276712" @@ -27299,26 +27280,26 @@ MONDO:0100144 "A tubulinopathy with material basis in TUBB2B that is characteriz MONDO:0002700 UBERON:0004257 GO:2000850 "Any process that stops, prevents or reduces the frequency, rate or extent of glucocorticoid secretion." -MONDO:0001114 "Myocarditis that is caused by an infection with a bacterial agent." "SCTID:64043005 ICD10:I40.0 DOID:10779 NCIT:C128380 UMLS:C0155690 UMLS:C1384588 ICD9:422.92" -MONDO:0011054 "Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents." "UMLS:C1832432 SCTID:726735000 MESH:C563338 Orphanet:1027 ICD10:Q73.0 OMIM:601360" -MONDO:0001768 "ICD10:H04.54 DOID:13654 SCTID:81345003 ICD10:H04.549 ICD9:375.53" +MONDO:0001114 "Myocarditis that is caused by an infection with a bacterial agent." "ICD10CM:I40.0 SCTID:64043005 DOID:10779 NCIT:C128380 UMLS:C0155690 UMLS:C1384588 ICD9:422.92" +MONDO:0011054 "Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents." "UMLS:C1832432 SCTID:726735000 MESH:C563338 Orphanet:1027 ICD10CM:Q73.0 OMIM:601360" +MONDO:0001768 "DOID:13654 SCTID:81345003 ICD9:375.53" CHEBI:32952 "A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups." MONDO:0004264 "DOID:7527 ICD9:098.16 UMLS:C0341829 SCTID:65295003 UMLS:C0153196" NCBITaxon:39733 "GC_ID:1" UBERON:0001757 -MONDO:0004617 "Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)" "DOID:8619 SCTID:426451004 ICD10:G47.13 ICD9:327.13 UMLS:C0751226" +MONDO:0004617 "Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)" "DOID:8619 SCTID:426451004 ICD9:327.13 ICD10CM:G47.13 UMLS:C0751226" MONDO:0021491 "A benign neoplasm that involves the gingiva." "NCIT:C4598 UMLS:C0347201 SCTID:92126004 ICD9:210.4" MONDO:0002522 "A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." "SCTID:310605004 EFO:1000562 NCIT:C3402 ICD9:727.89 ICDO:9252/0 SCTID:95413004 DOID:314 ICD9:727.02 UMLS:C1318543" MONDO:0018409 "UMLS:CN227352 Orphanet:400003" -MONDO:0012582 "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea." "Orphanet:217563 MESH:C567046 UMLS:C1970456 OMIM:610921 Orphanet:440402 Orphanet:264675 ICD10:J84.8" -MONDO:0005361 "Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs)." "MESH:D057765 SCTID:235599003 Orphanet:73247 OMIM:610247 DOID:13922 OMIM:613412 UMLS:C0341106 ICD9:530.13 EFO:0004232 ICD10:K20 NCIT:C27105 MedDRA:10064212 ICD10:K20.0" +MONDO:0012582 "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea." "Orphanet:217563 MESH:C567046 UMLS:C1970456 OMIM:610921 ICD10CM:J84.8 Orphanet:440402 Orphanet:264675" +MONDO:0005361 "Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs)." "MESH:D057765 SCTID:235599003 Orphanet:73247 OMIM:610247 DOID:13922 ICD10CM:K20.0 OMIM:613412 UMLS:C0341106 ICD9:530.13 EFO:0004232 NCIT:C27105 MedDRA:10064212 ICD10CM:K20" MONDO:0011953 "Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen." "Orphanet:88619 UMLS:C4509836 GARD:0013232 SCTID:723359002 OMIM:608033" MONDO:0019092 "Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea." "UMLS:C0745261 SCTID:724229002 UMLS:CN205590 GARD:0006779 Orphanet:70590" -MONDO:0015998 "Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." "OMIM:225100 SCTID:74969002 DOID:0111148 MESH:C536184 OMIM:225200 ICD10:Q12.1 GARD:0012251 Orphanet:1885 PMID:20141359 NCIT:C34566 MedDRA:10014145 OMIM:129600" -MONDO:0016546 "Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing." "Orphanet:238606 ICD10:G25.2 GARD:0008563 SCTID:715902009 MESH:C536418" +MONDO:0015998 "Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." "OMIM:225100 SCTID:74969002 DOID:0111148 MESH:C536184 OMIM:225200 GARD:0012251 Orphanet:1885 PMID:20141359 NCIT:C34566 MedDRA:10014145 OMIM:129600" +MONDO:0016546 "Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing." "Orphanet:238606 GARD:0008563 ICD10CM:G25.2 SCTID:715902009 MESH:C536418" UBERON:0006653 MONDO:0001765 "ICD9:357.1 UMLS:C0154759 DOID:13649 SCTID:193177003 ICD9:357.4" -MONDO:0005838 "A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia." "MESH:D008368 EFO:0007357 ICD10:B74.4 Orphanet:2459 SCTID:240849009 DOID:1081 UMLS:C0024759 NCIT:C84882 GARD:0008216" +MONDO:0005838 "A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia." "MESH:D008368 EFO:0007357 ICD10CM:B74.4 Orphanet:2459 SCTID:240849009 DOID:1081 UMLS:C0024759 NCIT:C84882 GARD:0008216" NCBITaxon:2732536 "GC_ID:1" http://identifiers.org/hgnc/12592 MONDO:0044808 @@ -27326,64 +27307,64 @@ UBERON:0004250 HP:0000011 "A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention." "UMLS:C0005697 MSH:D001750 SNOMEDCT_US:398064005 SNOMEDCT_US:397732007" GO:1902573 "Any process that activates or increases the frequency, rate or extent of serine-type peptidase activity." UBERON:0001756 -MONDO:0013913 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene." "ICD10:E23.0 UMLS:C3553844 OMIM:614840 DOID:0090071" -MONDO:0018485 "Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." "SCTID:722343009 ICD10:E74.0 Orphanet:420429 UMLS:C3888925 UMLS:C0342753" -MONDO:0010627 "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." "OMIM:308240 SCTID:77121009 Orphanet:2442 MESH:D008232 GARD:0007906 MedDRA:10068348 UMLS:C0549463 ICD9:238.79 OMIM:300635 NCIT:C61246 ICD10:D82.3 DOID:0060705" +MONDO:0013913 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene." "UMLS:C3553844 OMIM:614840 DOID:0090071" +MONDO:0018485 "Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." "SCTID:722343009 ICD10CM:E74.0 Orphanet:420429 UMLS:C3888925 UMLS:C0342753" +MONDO:0010627 "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." "OMIM:308240 SCTID:77121009 Orphanet:2442 MESH:D008232 GARD:0007906 MedDRA:10068348 UMLS:C0549463 ICD9:238.79 OMIM:300635 NCIT:C61246 DOID:0060705" ENVO:01000281 "A layer is a quantity of some material which is spatially continuous, has comparable thickness, and usually covers some surface." UBERON:0003052 HP:0002815 "An abnormality of the knee joint or surrounding structures." "UMLS:C4025676" -MONDO:0014544 "An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11." "Orphanet:216812 DOID:0110345 ICD10:Q78.0 OMIM:616229 UMLS:C4015610" +MONDO:0014544 "An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11." "Orphanet:216812 DOID:0110345 ICD10CM:Q78.0 OMIM:616229 UMLS:C4015610" MONDO:0000567 MONDO:0003063 GO:0004758 "Catalysis of the reaction: L-serine + H(+) + palmitoyl-CoA = 3-dehydrosphinganine + CO(2) + CoA." MONDO:0030440 "OMIM:619531" MONDO:0002964 -MONDO:0018349 "MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3)." "GARD:0012417 UMLS:C4518783 Orphanet:397941 SCTID:733450008 ICD10:E77.8" +MONDO:0018349 "MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3)." "ICD10CM:E77.8 GARD:0012417 UMLS:C4518783 Orphanet:397941 SCTID:733450008" UBERON:0006652 -MONDO:0001766 "UMLS:C0155243 DOID:13651 ICD10:H04.52 SCTID:28244003 ICD9:375.51" +MONDO:0001766 "UMLS:C0155243 DOID:13651 SCTID:28244003 ICD9:375.51" http://identifiers.org/hgnc/12593 GO:1902490 "Any process that modulates the frequency, rate or extent of sperm capacitation." UBERON:0004251 MONDO:0002870 "The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve." "SCTID:111287006 NCIT:C50842 DOID:4080 MESH:D014262 UMLS:C0040961" -MONDO:0015529 "Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy." "UMLS:C1399352 SCTID:443094001 Orphanet:157835 ICD10:G44.0 MESH:D051302 GARD:0010794 ICD9:339.03 EFO:1001822 MedDRA:10019461" +MONDO:0015529 "Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy." "UMLS:C1399352 SCTID:443094001 Orphanet:157835 MESH:D051302 GARD:0010794 ICD9:339.03 EFO:1001822 MedDRA:10019461 ICD10CM:G44.0" CL:2000070 "Any fibroblast that is part of a optic choroid." UBERON:0001759 -MONDO:0021097 "A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." "SCTID:254848002 SCTID:99571000119102 DOID:1626 EFO:1000306 NCIT:C3863" +MONDO:0021097 "A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." "SCTID:254848002 SCTID:99571000119102 DOID:1626 NCIT:C3863 EFO:1000306" CL:1001610 "Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes." "CALOHA:TS-2109" -MONDO:0018407 "Orphanet:399998 ICD10:N46" +MONDO:0018407 "ICD10CM:N46 Orphanet:399998" MONDO:0000566 MONDO:0000300 -MONDO:0014540 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene." "Orphanet:88661 OMIM:616221 Orphanet:100031 UMLS:C4015557 ICD10:K00.5 DOID:0110064" +MONDO:0014540 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene." "Orphanet:88661 OMIM:616221 Orphanet:100031 UMLS:C4015557 DOID:0110064" UBERON:0003055 MONDO:0024555 "Orphanet:2478 OMIM:604004 DOID:0080316" http://identifiers.org/hgnc/638 HP:0002813 "Any abnormality of bones of the arms or legs." "UMLS:C4082761" -MONDO:0009874 "Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes)." "SCTID:33559001 MESH:D056731 ICD10:E13 Orphanet:769 UMLS:C0271695 ICD9:259.8 GARD:0000226 NCIT:C131000 OMIM:262190" +MONDO:0009874 "Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes)." "SCTID:33559001 MESH:D056731 Orphanet:769 UMLS:C0271695 ICD10CM:E13 ICD9:259.8 GARD:0000226 NCIT:C131000 OMIM:262190" MONDO:0002961 "DOID:4321 UMLS:C1334362 NCIT:C27518" NCBITaxon:241806 "GC_ID:1 PMID:21652310" NCIT:C35682 -MONDO:0017899 "OBSOLETE. Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8)." "ICD10:D84.8 UMLS:CN203955 Orphanet:319543" +MONDO:0017899 "OBSOLETE. Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8)." "ICD10CM:D84.8 UMLS:CN203955 Orphanet:319543" MONDO:0003400 "A yolk sac tumor that occurs during childhood." "DOID:5342 UMLS:C1333016 NCIT:C27364" CL:0002489 "A thymocyte that lacks expression of CD4 and CD8." UBERON:0004252 -MONDO:0017209 "ICD10:H20.0 Orphanet:279919" +MONDO:0017209 "Orphanet:279919 ICD10CM:H20.0" http://identifiers.org/hgnc/1582 -MONDO:0019608 "ICD10:Q56.2 UMLS:CN227662 Orphanet:91144" +MONDO:0019608 "ICD10CM:Q56.2 UMLS:CN227662 Orphanet:91144" MONDO:0014682 "Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene." "UMLS:C4225292 Orphanet:319487 OMIM:616535" GO:0002562 "The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus." UBERON:0001758 MONDO:0004448 "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." "UMLS:C1333644 NCIT:C6842 DOID:8060" CL:1001593 "Glandular cell of parathyroid epithelium. Example: Parathyroid chief cell and parathyroid oxyphil cells." "CALOHA:TS-1279" -MONDO:0016812 "Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency." "ICD10:G24.8 NCIT:C116719 SCTID:230332007 GARD:0009817 UMLS:C1851920 Orphanet:255 MESH:C538007" +MONDO:0016812 "Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency." "NCIT:C116719 SCTID:230332007 GARD:0009817 UMLS:C1851920 Orphanet:255 ICD10CM:G24.8 MESH:C538007" GO:0002089 "The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus." UBERON:0005451 PO:0009084 "A portion of plant tissue (PO:0009007) that is the outer layer (wall) of a fruit (PO:0009001), and develops from a plant ovary (PO:0009072) or a carpel (PO:0009030) wall." "PO_GIT:511 PO_GIT:149" MONDO:0006489 "A primary malignant neoplasm of the vagina composed of malignant melanocytes." "EFO:1000619 UMLS:C2004576 ONCOTREE:VMM NCIT:C27394" -MONDO:0018408 "SCTID:75006000 ICD10:B67.1 UMLS:C0013502 MedDRA:10014096 ICD10:B67.6 Orphanet:400 ICD10:B67.3 ICD10:B67.9 UMLS:C0152068 GARD:0002764 ICD10:B67.2 MESH:D004443 UMLS:C0153290 ICD10:B67.4 SCTID:721822004 ICD10:B67.7 DOID:1495 ICD10:B67.0 UMLS:C0153291 ICD10:B67.5 ICD9:122.4 UMLS:C4303092 ICD10:B67.8" -MONDO:0013349 "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3)." "GARD:0012396 UMLS:C3150913 Orphanet:280071 DOID:0080567 SCTID:733085004 ICD10:E77.8 OMIM:613661" +MONDO:0018408 "SCTID:75006000 UMLS:C0013502 ICD10CM:B67.4 MedDRA:10014096 ICD10CM:B67.8 ICD10CM:B67.0 Orphanet:400 UMLS:C0152068 GARD:0002764 MESH:D004443 ICD10CM:B67.5 ICD10CM:B67.9 UMLS:C0153290 ICD10CM:B67.1 SCTID:721822004 DOID:1495 ICD10CM:B67.6 UMLS:C0153291 ICD10CM:B67.3 ICD10CM:B67.7 UMLS:C4303092 ICD9:122.4 ICD10CM:B67.2" +MONDO:0013349 "A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3)." "GARD:0012396 UMLS:C3150913 Orphanet:280071 DOID:0080567 SCTID:733085004 ICD10CM:E77.8 OMIM:613661" UBERON:0003054 http://identifiers.org/hgnc/30224 -MONDO:0015518 "Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic." "GARD:0005040 SCTID:718174008 UMLS:C0795996 OMIM:271930 Orphanet:1576 OMIM:500003 ICD10:G23.2" +MONDO:0015518 "Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic." "GARD:0005040 SCTID:718174008 ICD10CM:G23.2 UMLS:C0795996 OMIM:271930 Orphanet:1576 OMIM:500003" UBERON:0002956 UBERON:0004253 CHEBI:73913 "An antimetabolite that impairs the action of folic acids" @@ -27400,32 +27381,32 @@ NCBITaxon:2732532 "GC_ID:1" CHEBI:29057 MONDO:0007329 "Cirrhosis in which no causative agent can be identified." "SCTID:6183001 OMIM:215600 Orphanet:209919 NCIT:C84411" MONDO:0011347 "MESH:C566357 UMLS:C1863678 OMIM:603595" -MONDO:0011903 "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." "GARD:0009198 SCTID:717014003 Orphanet:99943 ICD10:G60.0 MESH:C535417 OMIM:607736 DOID:0110157" -MONDO:0018534 "Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia." "Orphanet:424975 ICD10:C22.0 UMLS:CN242131 ICD10:C22.1" -MONDO:0009916 "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production." "MESH:C564868 SCTID:50658006 MESH:C537805 ICD10:E29.1 GARD:0005659 Orphanet:752 NCIT:C120203 OMIM:264300" +MONDO:0011903 "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." "GARD:0009198 SCTID:717014003 Orphanet:99943 MESH:C535417 OMIM:607736 ICD10CM:G60.0 DOID:0110157" +MONDO:0018534 "Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia." "Orphanet:424975 UMLS:CN242131" +MONDO:0009916 "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production." "MESH:C564868 SCTID:50658006 MESH:C537805 ICD10CM:E29.1 GARD:0005659 Orphanet:752 NCIT:C120203 OMIM:264300" MONDO:0013742 "OMIM:614418 Orphanet:165805" http://identifiers.org/hgnc/30225 MONDO:0012849 "Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene." "MESH:C567364 OMIM:612285 Orphanet:2318 DOID:0111004 UMLS:C2676788" CL:0000575 "An epithelial cell of the cornea." "FMA:70551 BTO:0004298 CALOHA:TS-0173" http://identifiers.org/hgnc/25532 -MONDO:0002429 "A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis)." "ICD10:J84.114 Orphanet:98300 MESH:D054988 SCTID:196125002 DOID:2797 ICD10:J84.11 NCIT:C35714 SCTID:700249006 ICD10:J84.112 UMLS:C2350236 SCTID:236302005" +MONDO:0002429 "A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis)." "Orphanet:98300 MESH:D054988 SCTID:196125002 ICD10CM:J84.112 DOID:2797 NCIT:C35714 SCTID:700249006 UMLS:C2350236 SCTID:236302005" UBERON:0001752 -MONDO:0008495 "Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic." "MESH:D010981 DOID:2223 OMIM:185050 EFO:1001112 SCTID:234474009 GARD:0005034 Orphanet:734 ICD10:D69.1" +MONDO:0008495 "Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic." "MESH:D010981 DOID:2223 ICD10CM:D69.1 OMIM:185050 EFO:1001112 SCTID:234474009 GARD:0005034 Orphanet:734" MONDO:0020855 "OMIM:618115" HP:0003355 "An increased concentration of an amino acid in the urine." "UMLS:C4020843 UMLS:C0238621 SNOMEDCT_US:35912001" http://identifiers.org/hgnc/8885 -MONDO:0017470 "Orphanet:295034 HP:0005191 SCTID:59068006 MedDRA:10010520 ICD9:754.41 ICD10:Q68.2" +MONDO:0017470 "Orphanet:295034 HP:0005191 ICD10CM:Q68.2 SCTID:59068006 MedDRA:10010520 ICD9:754.41" GO:0002349 "The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels." NCIT:C36887 -MONDO:0009700 "Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay." "ICD9:359.89 OMIM:254940 DOID:0080194 GARD:0003889 Orphanet:1358 UMLS:C1850746 MESH:C536102 ICD10:Q87.0 SCTID:429753001" +MONDO:0009700 "Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay." "ICD10CM:Q87.0 ICD9:359.89 OMIM:254940 DOID:0080194 GARD:0003889 Orphanet:1358 UMLS:C1850746 MESH:C536102 SCTID:429753001" GO:0050801 "Any process involved in the maintenance of an internal steady state of ions within an organism or cell." -MONDO:0007865 "OMIM:149100 ICD10:M72.1 ICD9:728.79 UMLS:C0264000 SCTID:16687001" +MONDO:0007865 "OMIM:149100 ICD10CM:M72.1 ICD9:728.79 UMLS:C0264000 SCTID:16687001" NCBITaxon:33634 "GC_ID:1" MONDO:0060564 "UMLS:C4522164 Orphanet:528105 OMIM:617671" MONDO:0002273 "An inherited metabolic disorder that involves plasma protein metabolism malfunction." "ICD9:273.8 DOID:2345" -MONDO:0014560 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene." "DOID:0110065 UMLS:C4225394 Orphanet:100031 OMIM:616270 ICD10:K00.5" +MONDO:0014560 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene." "DOID:0110065 UMLS:C4225394 Orphanet:100031 OMIM:616270" CHEBI:36388 -MONDO:0007987 "Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root)." "SCTID:53974002 OMIM:156550 MESH:C537207 NCIT:C125594 DOID:0080045 UMLS:C0265279 Orphanet:485 ICD9:756.9 ICD10:Q77.7 GARD:0006841" +MONDO:0007987 "Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root)." "SCTID:53974002 OMIM:156550 MESH:C537207 NCIT:C125594 DOID:0080045 UMLS:C0265279 Orphanet:485 ICD9:756.9 ICD10CM:Q77.7 GARD:0006841" GO:1903726 "Any process that stops, prevents or reduces the frequency, rate or extent of phospholipid metabolic process." http://identifiers.org/hgnc/18688 CHEBI:62803 "Any additive that enhances the efficiency of fuel." @@ -27434,20 +27415,20 @@ http://identifiers.org/hgnc/5024 http://identifiers.org/hgnc/7421 http://identifiers.org/hgnc/634 GO:0009150 "The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar." -MONDO:0015721 "Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "SCTID:26029002 Orphanet:169808 ICD10:D66 UMLS:C0272324" +MONDO:0015721 "Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "SCTID:26029002 Orphanet:169808 ICD10CM:D66 UMLS:C0272324" MONDO:0006667 MONDO:0020856 "OMIM:618116" -MONDO:0012545 "ICD10:E75.5 OMIM:610717 GARD:0010288 Orphanet:98908 SCTID:699315005" +MONDO:0012545 "ICD10CM:E75.5 OMIM:610717 GARD:0010288 Orphanet:98908 SCTID:699315005" PO:0020144 "A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025)." "PO_GIT:579" MONDO:0014974 "OMIM:617223 UMLS:C4310663" MONDO:0023419 "Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern." "DOID:0080541 UMLS:C0268528 OMIM:239500 GARD:0002847 Orphanet:419 ICD9:270.8 SCTID:59655002" UBERON:0001751 -MONDO:0011738 "Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus." "UMLS:C1847352 OMIM:606854 NCIT:C148367 ICD10:Q04.3 GARD:0010784 Orphanet:101070 Orphanet:268940 MESH:C564652" +MONDO:0011738 "Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus." "UMLS:C1847352 OMIM:606854 NCIT:C148367 ICD10CM:Q04.3 GARD:0010784 Orphanet:101070 Orphanet:268940 MESH:C564652" CHEBI:36389 MONDO:0044925 "A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma." "NCIT:C8990 UMLS:C0151546" http://identifiers.org/hgnc/6487 CL:1000484 "A Purkinje myocyte that is part of the atrioventricular bundle." "FMA:83393" -MONDO:0018755 "Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema." "ICD10:T63.2 Orphanet:466677 UMLS:CN242103 SCTID:217670007" +MONDO:0018755 "Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema." "Orphanet:466677 UMLS:CN242103 SCTID:217670007" GO:0016757 "Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor)." MONDO:0003824 "An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome." "DOID:6244 UMLS:C0879606 NCIT:C8960" GO:0099522 "Any (proper) part of the cytosol of a single cell of sufficient size to still be considered cytosol." @@ -27456,10 +27437,10 @@ http://identifiers.org/hgnc/18423 MONDO:0100462 "A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." "Orphanet:251262 OMIM:165800" MONDO:0005205 UBERON:0003051 -MONDO:0007866 "ICD9:759.89 Orphanet:2698 ICD10:Q82.8 GARD:0003125 OMIM:149200 DOID:0050658 SCTID:1271009 MESH:C537210" +MONDO:0007866 "ICD9:759.89 ICD10CM:Q82.8 Orphanet:2698 GARD:0003125 OMIM:149200 DOID:0050658 SCTID:1271009 MESH:C537210" MONDO:0011349 "UMLS:C1863677 OMIM:603600 MESH:C566356" -MONDO:0012086 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3." "MESH:C563888 OMIM:608645 DOID:0110561 UMLS:C1837617 ICD10:H90.3" -MONDO:0005271 "An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures." "DOID:1205 SCTID:609328004 UMLS:C1527304 ICD9:V15.09 ICD10:T78.40 NCIT:C3114 EFO:0003785 NCIT:C114476 MESH:D006967 ICD9:995.3" +MONDO:0012086 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3." "MESH:C563888 OMIM:608645 DOID:0110561 UMLS:C1837617" +MONDO:0005271 "An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures." "DOID:1205 SCTID:609328004 UMLS:C1527304 ICD9:V15.09 NCIT:C3114 EFO:0003785 NCIT:C114476 MESH:D006967 ICD9:995.3" MONDO:0100002 "A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins." http://identifiers.org/hgnc/7684 MONDO:0013900 "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene." "UMLS:C3553788 OMIM:614820 Orphanet:2131" @@ -27469,7 +27450,7 @@ MONDO:0005117 "Aeromonas hydrophila infection is a bacterial disease caused by i UBERON:0015019 MONDO:0020857 "DOID:0080499 OMIM:618117" UBERON:0001754 -MONDO:0016684 "Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord." "GARD:0005860 EFO:0002499 MedDRA:10060971 DOID:3078 UMLS:C0334579 ONCOTREE:AASTR NCIT:C9477 MedDRA:10002224 ICDO:9401/3 MESH:D001254 Orphanet:251589 ICD10:C71.9" +MONDO:0016684 "Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord." "GARD:0005860 EFO:0002499 MedDRA:10060971 DOID:3078 UMLS:C0334579 ONCOTREE:AASTR NCIT:C9477 MedDRA:10002224 ICDO:9401/3 ICD10CM:C71.9 MESH:D001254 Orphanet:251589" CL:0000738 "An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue." "BTO:0000751 FMA:62852 CALOHA:TS-0549" MONDO:0014973 "UMLS:C4310664 OMIM:617222" CL:0002188 "An endothelial cell found in the glomerulus of the kidney. This cell is flattened, highly fenestrated, and plays a vital role in the formation of glomerular ultrafiltrate." "FMA:70970 BTO:0004632" @@ -27477,7 +27458,7 @@ NCBITaxon:2732534 "GC_ID:1" NCBITaxon:2732533 "GC_ID:1" FOODON:03412345 "A composite organism that arises from algae or cyanobacteria living among filaments of multiple fungi species in a mutualistic relationship."@en http://identifiers.org/hgnc/6486 -MONDO:0008045 "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus." "OMIM:159950 DOID:0111527 UMLS:C1834569 Orphanet:2590 GARD:0003875 GARD:0003044 MESH:C537563 ICD9:345.10 SCTID:703524005 ICD10:G25.3" +MONDO:0008045 "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus." "OMIM:159950 DOID:0111527 ICD10CM:G25.3 UMLS:C1834569 Orphanet:2590 GARD:0003875 GARD:0003044 MESH:C537563 ICD9:345.10 SCTID:703524005" http://identifiers.org/hgnc/24338 MONDO:0007601 "MESH:C565021 OMIM:134610 UMLS:C1851347 Orphanet:342" http://identifiers.org/hgnc/6220 @@ -27487,9 +27468,9 @@ UBERON:0003050 GO:0030263 "The compaction of chromatin during apoptosis." MONDO:0007867 "GARD:0009760 MESH:C537260 DOID:0080080 OMIM:149300 SCTID:66270006 ICD9:703.8" MONDO:0002709 -MONDO:0018353 "Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia." "UMLS:CN226092 EFO:0009266 ICD10:K90.0 Orphanet:398063" +MONDO:0018353 "Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia." "ICD10CM:K90.0 UMLS:CN226092 EFO:0009266 Orphanet:398063" http://identifiers.org/hgnc/7685 -MONDO:0018251 "OBSOLETE. A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency." "SCTID:235908005 UMLS:C0268147 SCTID:40191005 ICD10:E74.0 NCIT:C122662 DOID:0050594 Orphanet:370 MESH:C580130" +MONDO:0018251 "OBSOLETE. A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency." "ICD10CM:E74.0 SCTID:235908005 UMLS:C0268147 SCTID:40191005 NCIT:C122662 DOID:0050594 Orphanet:370 MESH:C580130" MONDO:0023113 "Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." "UMLS:CN029768 GARD:0008533 OMIM:114500" UBERON:0001753 MONDO:0005341 "The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas." "OMIM:613059 UMLS:C0206710 UMLS:C0007117 KEGG:05217 OMIM:613062 ONCOTREE:BCC EFO:0004193 SCTID:254701007 OMIM:613063 OMIM:614740 OMIM:613058 OMIM:613061 CSP:2000-2719 OMIM:605462 HP:0002671 DOID:2513 ICDO:8090/3 NCIT:C2921 UMLS:C0751676" @@ -27502,16 +27483,16 @@ MONDO:0020850 "OMIM:618109" MONDO:0003732 "A central nervous system mature teratoma that occurs in an adult." "NCIT:C27400 UMLS:C1332194 DOID:6016" MONDO:0054654 "DOID:0111492 OMIM:617664 UMLS:C4540029" MONDO:0054740 "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene." "DOID:0080345 OMIM:119580" -MONDO:0019207 "DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." "OMIM:606176 SCTID:721088003 ICD10:P70.2 NCIT:C131845 UMLS:C1853564 Orphanet:79134 UMLS:C4303593" -MONDO:0001481 "A thrombophlebitis that involves the femoral vein." "DOID:12282 ICD10:I80.1 SCTID:1748006 UMLS:C0265066 ICD9:451.11" +MONDO:0019207 "DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." "ICD10CM:P70.2 OMIM:606176 SCTID:721088003 NCIT:C131845 UMLS:C1853564 Orphanet:79134 UMLS:C4303593" +MONDO:0001481 "A thrombophlebitis that involves the femoral vein." "DOID:12282 SCTID:1748006 UMLS:C0265066 ICD9:451.11" MONDO:0014971 "UMLS:C4310665 OMIM:617217" -MONDO:0018826 "A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy." "GARD:0013070 Orphanet:48162 MedDRA:10065580 ICD10:G61.8 UMLS:C1695985" +MONDO:0018826 "A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy." "GARD:0013070 Orphanet:48162 MedDRA:10065580 UMLS:C1695985 ICD10CM:G61.8" UBERON:0000106 "A stage at which the organism is a single cell produced by means of sexual reproduction." MONDO:0012233 "Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene." "DOID:0111504 UMLS:C1836482 MESH:C563755 OMIM:609265 Orphanet:524" MONDO:0006711 "A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function." "NCIT:C78246 HP:0002563 SCTID:85598007 DOID:11481 EFO:1000878 MESH:D010494 MedDRA:10010783 UMLS:C0031048 ICD9:423.2" HP:0033100 "An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine." http://identifiers.org/hgnc/897 -MONDO:0017894 "Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly)." "Orphanet:319480 UMLS:C2826178 SCTID:764855007 ICD10:C92.0 NCIT:C82433 OMIM:601626" +MONDO:0017894 "Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly)." "Orphanet:319480 UMLS:C2826178 SCTID:764855007 NCIT:C82433 ICD10CM:C92.0 OMIM:601626" GO:2000065 "Any process that stops, prevents, or reduces the frequency, rate or extent of cortisol biosynthetic process." http://identifiers.org/hgnc/28296 http://identifiers.org/hgnc/23399 @@ -27528,12 +27509,12 @@ ENVO:00010483 "A portion of environmental material is a fiat object part which f http://identifiers.org/hgnc/8881 MONDO:0009163 "OMIM:225700 MESH:C565597 UMLS:C1856991" MONDO:0600024 "An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause." "MESH:C000598744 OMIM:160750" -MONDO:0024311 "A cancer that involves the limb bone." "ICD10:C40" +MONDO:0024311 "A cancer that involves the limb bone." "ICD10CM:C40" ENVO:3100011 "The concentration of dioxygen when measured in liquid water." MONDO:0020851 "OMIM:618110" http://identifiers.org/hgnc/6484 MONDO:0016225 "Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)" "UMLS:CN226885 Orphanet:211047 MESH:D000067559" -MONDO:0013210 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene." "ICD10:H90.3 Orphanet:90636 DOID:0110483 OMIM:613285 UMLS:C1414017" +MONDO:0013210 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene." "Orphanet:90636 DOID:0110483 OMIM:613285 UMLS:C1414017" CHEBI:33888 MONDO:0016796 "Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features." "OMIM:612075 Orphanet:254803 UMLS:CN230130 OMIM:612073 UMLS:CN202052" MONDO:0004303 "A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm." "DOID:7609 NCIT:C7993 UMLS:C0279700" @@ -27543,23 +27524,23 @@ MONDO:0024673 "A lymphangioma arising from the skin." "UMLS:C1333176 NCIT:C27509 http://identifiers.org/hgnc/7683 http://identifiers.org/hgnc/5286 http://identifiers.org/hgnc/25535 -MONDO:0015768 "Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." "ICD10:Q92.2 Orphanet:1742 GARD:0006093" +MONDO:0015768 "Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." "Orphanet:1742 ICD10CM:Q92.2 GARD:0006093" http://identifiers.org/hgnc/17228 MONDO:0044037 "A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming." "MESH:D054068 UMLS:C0085642 SCTID:238772004" UBERON:0016479 PATO:0002132 "A disposition inhering in a tumour by virtue of the bearer's disposition not to invade surrounding tissues." -MONDO:0008310 "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." "OMIM:176670 ICD10:E34.8 UMLS:C0033300 UMLS:CN236401 Orphanet:740 MedDRA:10036794 ICD9:259.8 SCTID:238870004 GARD:0007467 NCIT:C34951 MESH:D011371 DOID:3911" +MONDO:0008310 "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)." "OMIM:176670 UMLS:C0033300 UMLS:CN236401 Orphanet:740 MedDRA:10036794 ICD9:259.8 SCTID:238870004 GARD:0007467 ICD10CM:E34.8 NCIT:C34951 MESH:D011371 DOID:3911" MONDO:0020852 "OMIM:618112" http://identifiers.org/hgnc/6483 UBERON:0011582 MONDO:0002704 HsapDv:0000132 "Adult stage that refers to an adult who is over 38 and under 39." -MONDO:0019276 "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." "SCTID:402781004 ICD10:Q81.9 ICD10:Q81.1 ICD10:Q81.0 ICD10:Q81.2 Orphanet:79361 ICD10:Q81.8 ICD9:757.39" +MONDO:0019276 "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." "ICD10CM:Q81.2 SCTID:402781004 ICD10CM:Q81.9 ICD10CM:Q81.8 ICD10CM:Q81.1 ICD10CM:Q81.0 Orphanet:79361 ICD9:757.39" http://identifiers.org/hgnc/5285 NCBITaxon:59140 "GC_ID:1" NCIT:C20181 "An organizational header for concepts representing mostly abstract entities." CHEBI:50183 "An enzyme inhibitor that interferes with the activity of cytochrome P450 involved in catalysis of organic substances." -MONDO:0011485 "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13." "GARD:0009734 DOID:0060714 ICD10:Q80.2 MESH:C537265 OMIM:604777 Orphanet:313" +MONDO:0011485 "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13." "GARD:0009734 DOID:0060714 MESH:C537265 OMIM:604777 Orphanet:313" http://identifiers.org/hgnc/7680 GO:0031327 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells." MONDO:0008518 "A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet." "GARD:0009863 UMLS:C0175700 DOID:14762 Orphanet:1412 MESH:C538156 SCTID:62628008 ICD9:755.8 OMIM:186400" @@ -27571,25 +27552,25 @@ UBERON:0001750 NCBITaxon:400053 "GC_ID:1" MONDO:0022812 "A disorder with basis in disruption of a complement receptor." "GARD:0009527 UMLS:C0398783 ICD9:279.8 SCTID:234628004" MONDO:0020853 "OMIM:618113" -MONDO:0016607 "Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities." "SCTID:708672004 ICD10:E83.3 OMIM:146300 Orphanet:247685 NCIT:C131309 UMLS:C1840322" +MONDO:0016607 "Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities." "SCTID:708672004 OMIM:146300 Orphanet:247685 ICD10CM:E83.3 NCIT:C131309 UMLS:C1840322" http://identifiers.org/hgnc/6482 MONDO:0022151 "GARD:0001277 MESH:C535929 UMLS:C2931066 SCTID:725103004" MONDO:0003738 "A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases." "DOID:6024 SCTID:234540007 NCIT:C27143 ICD9:279.03 UMLS:C0398694" GO:0099513 "A component of the cytoskeleton consisting of a homo or heteropolymeric fiber constructed from an indeterminate number of protein subunits." UBERON:0011583 -MONDO:0000986 "Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom." "EFO:1001825 ICD10:R09.1 ICD9:511.8 UMLS:C0032231 DOID:10247 MESH:D010998 NCIT:C26860 SCTID:196075003" -MONDO:0002263 "A disease involving the female reproductive system." "DOID:229 NCIT:C27020 ICD9:629.9 SCTID:310789003 MESH:D005831" -MONDO:0013223 "Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene." "Orphanet:401979 UMLS:C2750075 MESH:C567644 ICD10:Q77.8 OMIM:613320" +MONDO:0000986 "Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom." "EFO:1001825 ICD9:511.8 ICD10CM:R09.1 UMLS:C0032231 DOID:10247 MESH:D010998 NCIT:C26860 SCTID:196075003" +MONDO:0002263 "A disease involving the female reproductive system." "DOID:229 ICD10CM:N80-N98 NCIT:C27020 ICD9:629.9 SCTID:310789003 MESH:D005831" +MONDO:0013223 "Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene." "Orphanet:401979 ICD10CM:Q77.8 UMLS:C2750075 MESH:C567644 OMIM:613320" MONDO:0100241 "An instance of thrombocytopenia that is inherited." "OMIM:300367 OMIM:188000 OMIM:612004 OMIM:273900 OMIM:313900 OMIMPS:313900" MONDO:0000898 "A malignant form of hemangioma." "UMLS:C0474836 DOID:0080189" MONDO:0004002 UBERON:0013719 http://identifiers.org/hgnc/25799 http://identifiers.org/hgnc/894 -MONDO:0005974 "An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection." "SCTID:187176005 MedDRA:10042254 Orphanet:76 ICD10:B78.1 UMLS:C0038463 EFO:0007501 ICD9:127.2 NCIT:C128398 ICD10:B78.0 GARD:0008195 UMLS:C0348996 UMLS:C0085810 ICD10:B78.7 ICD10:B78 ICD10:B78.9 DOID:10955 MESH:D013322" +MONDO:0005974 "An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection." "MedDRA:10042254 ICD9:127.2 ICD10CM:B78.9 ICD10CM:B78.1 GARD:0008195 UMLS:C0085810 ICD10CM:B78.0 UMLS:C0348996 MESH:D013322 Orphanet:76 SCTID:187176005 UMLS:C0038463 NCIT:C128398 ICD10CM:B78.7 EFO:0007501 DOID:10955" MONDO:0004268 "NCIT:C9008 DOID:7533" -MONDO:0007168 "Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." "Orphanet:56305 GARD:0010608 SCTID:725142004 ICD10:Q78.8 OMIM:108721 MESH:C579928" -MONDO:0001506 "ICD9:601.3 UMLS:C0156291 SCTID:67685000 DOID:12355 ICD10:N41.3" +MONDO:0007168 "Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." "Orphanet:56305 GARD:0010608 SCTID:725142004 ICD10CM:Q78.8 OMIM:108721 MESH:C579928" +MONDO:0001506 "ICD9:601.3 UMLS:C0156291 SCTID:67685000 ICD10CM:N41.3 DOID:12355" MONDO:0003958 "An immature teratoma that arises from the central nervous system and occurs during childhood." "UMLS:C1332954 DOID:6654 NCIT:C27405" GO:0045596 "Any process that stops, prevents, or reduces the frequency, rate or extent of cell differentiation." MONDO:0014765 "Any woolly hair in which the cause of the disease is a mutation in the KRT25 gene." "OMIM:616760 UMLS:C4225214 DOID:0111574" @@ -27601,16 +27582,16 @@ MONDO:0003250 "A granular cell tumor that is confined to the site of origin, wit UBERON:0011584 MONDO:0013658 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene." "OMIM:614257 UMLS:C3280285 DOID:0070041" MONDO:0005691 "Infections caused by viruses of the genus cardiovirus, family picornaviridae." "EFO:0007194 UMLS:C0206617 MESH:D018188" -MONDO:0009626 "Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent." "ICD10:Q87.8 GARD:0012426 Orphanet:1229 OMIMPS:251290 GARD:0000815 DOID:0050656 UMLS:C3489725 SCTID:722390006" +MONDO:0009626 "Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent." "OMIM:251290 GARD:0012426 ICD10CM:Q87.8 Orphanet:1229 OMIMPS:251290 GARD:0000815 DOID:0050656 UMLS:C3489725 SCTID:722390006" MONDO:0007524 "The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." "Orphanet:286 DOID:14756 OMIM:130050" http://identifiers.org/hgnc/3721 UBERON:0015025 -MONDO:0017211 "Orphanet:279925 ICD10:H44.1" +MONDO:0017211 "ICD10CM:H44.1 Orphanet:279925" MONDO:0010141 "SCTID:444755001 MESH:C536921 UMLS:C1848793 OMIM:275190 ICD9:270.8 GARD:0009958" CHEBI:37327 MONDO:0005582 "Recurrent episodes of over-eating." "EFO:0005924 MESH:D002032 NCIT:C97162 SCTID:439960005" -MONDO:0007336 "A cleft palate that is not part of a larger syndrome." "DOID:0110213 UMLS:CN234898 ICD10:Q35.3 ICD10:Q35.5 OMIM:119540 Orphanet:2014 ICD10:Q35.7 GARD:0001896 ICD10:Q35.9 ICD10:Q35.1" -MONDO:0018535 "A cystadenocarcinoma that involves the biliary tree." "ICD10:C22.1 Orphanet:424982 UMLS:C2064409" +MONDO:0007336 "A cleft palate that is not part of a larger syndrome." "DOID:0110213 UMLS:CN234898 OMIM:119540 ICD10CM:Q35.1 Orphanet:2014 GARD:0001896 ICD10CM:Q35.3" +MONDO:0018535 "A cystadenocarcinoma that involves the biliary tree." "Orphanet:424982 UMLS:C2064409 ICD10CM:C22.1" GO:1902117 "Any process that activates or increases the frequency, rate or extent of organelle assembly." http://identifiers.org/hgnc/23141 GO:0001704 "The formation of the ectoderm, mesoderm and endoderm during gastrulation." @@ -27618,9 +27599,9 @@ HP:0004368 "Abnormally elevated concentration of a purine compound. Purine compo http://identifiers.org/hgnc/2523 MONDO:0018410 "Orphanet:400008 UMLS:CN227353" NCBITaxon:31245 "GC_ID:1" -MONDO:0018676 "ICD10:J39.8 GARD:0002032 Orphanet:449566" +MONDO:0018676 "ICD10CM:J39.8 GARD:0002032 Orphanet:449566" http://identifiers.org/hgnc/4087 -MONDO:0017227 "Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease." "Orphanet:280302 UMLS:CN202712 PMID:25985088 UMLS:C4302243 EFO:1000780 ICD10:K86.1 SCTID:722872000" +MONDO:0017227 "Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease." "Orphanet:280302 UMLS:CN202712 PMID:25985088 UMLS:C4302243 EFO:1000780 SCTID:722872000 ICD10CM:K86.1" http://identifiers.org/hgnc/6218 MONDO:0015915 "Orphanet:182061" HP:0001153 "The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases." "UMLS:C0266411 SNOMEDCT_US:47054003" @@ -27629,23 +27610,23 @@ http://identifiers.org/hgnc/8615 GO:0030291 "Binds to and stops, prevents or reduces the activity of a protein serine/threonine kinase." MONDO:0014782 "Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers." "DOID:0110290 OMIM:616812 Orphanet:476084 UMLS:C4225199" CHR:9606-chr7q36 -MONDO:0007094 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene." "DOID:0110054 Orphanet:88661 OMIM:104530 Orphanet:100031 ICD10:K00.5 GARD:0000645 MESH:C538240" +MONDO:0007094 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene." "DOID:0110054 Orphanet:88661 OMIM:104530 Orphanet:100031 GARD:0000645 MESH:C538240" MONDO:0002765 "A verrucous carcinoma that involves the plantar part of pes." "DOID:3751 UMLS:C1335424 NCIT:C6811" MONDO:0017212 "Orphanet:279928" -MONDO:0010579 "X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission." "GARD:0002580 ICD10:Q13.4 OMIM:304730 MESH:C535376 Orphanet:1661 SCTID:715426004 UMLS:C1844671" +MONDO:0010579 "X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission." "GARD:0002580 ICD10CM:Q13.4 OMIM:304730 MESH:C535376 Orphanet:1661 SCTID:715426004 UMLS:C1844671" GO:0050962 "The series of events in which a light stimulus is received by a cell and converted into a molecular signal as part of the sensory perception of light." GO:0051589 "Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." GO:0097458 "OBSOLETE. Any constituent part of a neuron, the basic cellular unit of nervous tissue. A typical neuron consists of a cell body (often called the soma), an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." -MONDO:0013436 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene." "UMLS:C3151138 OMIM:613809 DOID:0110360 Orphanet:791 ICD10:H35.5" -MONDO:0002154 "An infection that is caused by Trichomonas." "ICD10:A59 MESH:D014245 ICD9:131.9 UMLS:C0040921 NCIT:C35720 ICD9:131 DOID:1947 SCTID:56335008 ICD9:131.8 ICD10:A59.9" -MONDO:0017478 "Orphanet:295053 ICD10:Q71.0" +MONDO:0013436 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene." "UMLS:C3151138 OMIM:613809 DOID:0110360 Orphanet:791" +MONDO:0002154 "An infection that is caused by Trichomonas." "MESH:D014245 ICD9:131.9 UMLS:C0040921 NCIT:C35720 ICD10CM:A59 ICD9:131 DOID:1947 SCTID:56335008 ICD9:131.8" +MONDO:0017478 "Orphanet:295053 ICD10CM:Q71.0" MONDO:0002651 "A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO)." "NCIT:C5598 DOID:3446 UMLS:C1332274" MONDO:0014779 "Any Wilms tumor in which the cause of the disease is a mutation in the REST gene." "OMIM:616806" HP:0001824 "Reduction of total body weight." "SNOMEDCT_US:262285001 MSH:D015431 SNOMEDCT_US:161832001 UMLS:C1262477 SNOMEDCT_US:89362005" GO:0031268 "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement." MONDO:0013188 "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene." "UMLS:C2750509 OMIM:613227 Orphanet:1766 MESH:C567690" GO:0009713 "The chemical reactions and pathways resulting in the formation of catechol-containing compounds. Catechol is a compound containing a pyrocatechol nucleus or substituent." -MONDO:0009182 "Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." "ICD10:Q81.1 OMIM:226700 DOID:0060737 GARD:0002153 Orphanet:79404 SCTID:400140006" +MONDO:0009182 "Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." "OMIM:226700 DOID:0060737 GARD:0002153 Orphanet:79404 SCTID:400140006" GO:0051668 "Any process in which a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a membrane." http://identifiers.org/hgnc/4921 MONDO:0011341 "OMIM:603572 UMLS:C1863702 MESH:C566361" @@ -27653,18 +27634,18 @@ UBERON:0035313 MONDO:0700063 "A disease characteristic in which the cause of the disease is present in all the cells of the organism." GO:0006448 "Any process that modulates the frequency, rate, extent or accuracy of translational elongation." UBERON:0009145 -MONDO:0020317 "An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation." "Orphanet:98831 NCIT:C82403 ICD10:C92.6 ICDO:9897/3 SCTID:444911000" -MONDO:0009032 "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." "UMLS:C0432235 Orphanet:1515 SCTID:254093009 NCIT:C129305 OMIM:614099 ICD9:756.9 DOID:0050577 OMIM:218330 ICD10:Q87.5 GARD:0000359 UMLS:CN119432 OMIMPS:218330 OMIM:613610 OMIM:614378 UMLS:CN016627 OMIM:617102" +MONDO:0020317 "An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation." "Orphanet:98831 NCIT:C82403 ICDO:9897/3 SCTID:444911000" +MONDO:0009032 "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." "OMIMPS:218330 OMIM:218330 UMLS:CN016627 NCIT:C129305 ICD10CM:Q87.5 SCTID:254093009 OMIM:614099 ICD9:756.9 OMIM:613610 OMIM:617102 GARD:0000359 UMLS:CN119432 Orphanet:1515 DOID:0050577 OMIM:614378 UMLS:C0432235" http://identifiers.org/hgnc/6217 MONDO:0000128 "A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs." "UMLS:C1850386 SCTID:128207002 MESH:D056768 UMLS:C5200933 OMIMPS:256850 NCIT:C84728 ICD9:349.89" UBERON:0010388 NCBITaxon:32443 "GC_ID:1" MONDO:0015913 "UMLS:CN200513 Orphanet:182054" ENVO:01001852 "A process during which one entity loses energy to another entity." -MONDO:0016468 "Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism)." "Orphanet:230800 ICD10:A05.1" +MONDO:0016468 "Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism)." "Orphanet:230800 ICD10CM:A05.1" http://identifiers.org/hgnc/23143 UBERON:0015023 -MONDO:0017475 "MESH:C537719 ICD10:Q74.2 HP:0100747 Orphanet:295047 GARD:0006951" +MONDO:0017475 "MESH:C537719 ICD10CM:Q74.2 HP:0100747 Orphanet:295047 GARD:0006951" GO:0055067 "Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell." MONDO:0100138 "A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features." MONDO:0043775 "Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders." "SCTID:64228003 MESH:D012133" @@ -27673,30 +27654,30 @@ http://identifiers.org/hgnc/7414 http://identifiers.org/hgnc/4922 http://identifiers.org/hgnc/9811 MONDO:0001000 "Pneumoconiosis caused by the inhalation of mixed mineral dust particles." "NCIT:C27559 SCTID:233759002 DOID:10319 ICD9:503 UMLS:C0340184" -MONDO:0021522 "A benign neoplasm that involves the bone of lower jaw." "SCTID:92208007 ICD9:213.1 UMLS:C0004994 ICD10:D16.5 NCIT:C34417" -MONDO:0007307 "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized." "NCIT:C118782 ICD10:G60.0 DOID:0110152 OMIM:118200 Orphanet:101082 UMLS:C0007959 UMLS:C0270912 GARD:0001246" -MONDO:0011340 "MESH:C566362 ICD9:748.3 ICD10:Q32.1 OMIM:603569 GARD:0012008 Orphanet:141127 SCTID:9660004" +MONDO:0021522 "A benign neoplasm that involves the bone of lower jaw." "ICD10CM:D16.5 SCTID:92208007 ICD9:213.1 UMLS:C0004994 NCIT:C34417" +MONDO:0007307 "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized." "NCIT:C118782 DOID:0110152 OMIM:118200 Orphanet:101082 UMLS:C0007959 UMLS:C0270912 ICD10CM:G60.0 GARD:0001246" +MONDO:0011340 "MESH:C566362 ICD9:748.3 OMIM:603569 GARD:0012008 ICD10CM:Q32.1 Orphanet:141127 SCTID:9660004" MONDO:0009153 "SCTID:419237004 MESH:C563268 UMLS:C1644196 Orphanet:1885 DOID:0111648 OMIM:225200" MONDO:0025293 "An acute, transmissible, infectious disease associated with high mortality and morbidity in young turkeys (poults). It is characterized by diarrhea; anorexia; growth depression, and immune dysfunction. The cause is unknown but astroviruses (avastrovirus) and coronaviruses (coronavirus, turkey) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections." "UMLS:C1135821 MESH:D031261" -MONDO:0016277 "Orphanet:213782 ICD10:C53.1 UMLS:CN201067 ICD10:C53.0 ICD10:C53.8" -MONDO:0012250 "Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" "MESH:C563740 UMLS:C1836336 OMIM:609311 SCTID:715802008 DOID:0110192 GARD:0012442 ICD10:G60.0 Orphanet:99954" +MONDO:0016277 "ICD10CM:C53.1 Orphanet:213782 ICD10CM:C53.8 UMLS:CN201067 ICD10CM:C53.0" +MONDO:0012250 "Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" "MESH:C563740 UMLS:C1836336 ICD10CM:G60.0 OMIM:609311 SCTID:715802008 DOID:0110192 GARD:0012442 Orphanet:99954" MONDO:0044334 "A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue." "NCIT:C3810" UBERON:0011587 CHEBI:51086 "A role played by the molecular entity or part thereof within a chemical context." UBERON:0013727 GO:0042401 "The chemical reactions and pathways occurring at the level of individual cells resulting in the formation of any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters." -MONDO:0015079 "ICD10:D44.8 UMLS:CN197373 UMLS:C0027662 Orphanet:100094" +MONDO:0015079 "UMLS:CN197373 UMLS:C0027662 Orphanet:100094 ICD10CM:D44.8" http://identifiers.org/hgnc/890 http://identifiers.org/hgnc/14988 -MONDO:0017476 "Orphanet:295049 ICD10:Q74.0" -MONDO:0011032 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." "DOID:0110543 OMIM:601317 MESH:C563353 Orphanet:90635 ICD10:H90.3 UMLS:C1832475" +MONDO:0017476 "Orphanet:295049 ICD10CM:Q74.0" +MONDO:0011032 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." "DOID:0110543 OMIM:601317 MESH:C563353 Orphanet:90635 UMLS:C1832475" UBERON:0010123 UBERON:0015024 -MONDO:0018671 "Orphanet:449395 UMLS:CN237737 ICD10:N11.8" +MONDO:0018671 "ICD10CM:N11.8 Orphanet:449395 UMLS:CN237737" GO:1903759 "OBSOLETE. Any signal transduction that is involved in regulation of aerobic respiration." MONDO:0005759 "Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma." "EFO:0007268 DOID:1217 MESH:D005213 UMLS:C0015655 SCTID:69550000" -MONDO:0018854 "A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF." "UMLS:C4510896 Orphanet:49566 MedDRA:10037556 ICD10:D65 SCTID:725157006 UMLS:CN205163" -MONDO:0009795 "Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment)." "OMIM:258865 GARD:0010520 SCTID:718680001 Orphanet:141007 MESH:C557818 ICD10:Q87.0 UMLS:C0796102 DOID:0060382" +MONDO:0018854 "A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF." "UMLS:C4510896 ICD10CM:D65 Orphanet:49566 MedDRA:10037556 SCTID:725157006 UMLS:CN205163" +MONDO:0009795 "Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment)." "OMIM:258865 GARD:0010520 SCTID:718680001 Orphanet:141007 MESH:C557818 ICD10CM:Q87.0 UMLS:C0796102 DOID:0060382" GO:2000381 "Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm development." MONDO:0100349 "A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability." "OMIM:216360 OMIM:619111 SCTID:721847002 OMIM:619113" GO:0100032 "OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates phospholipid biosynthetic process." @@ -27714,13 +27695,13 @@ MONDO:0010145 "UMLS:C1848758 MESH:C564764 OMIM:275230" NCBITaxon:69826 "GC_ID:1" http://identifiers.org/hgnc/7678 UBERON:0015021 -MONDO:0009424 "Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene." "ICD10:E26.8 GARD:0009658 OMIM:241200 Orphanet:93604 MESH:C537651 DOID:0110143 SCTID:700109009 Orphanet:112" +MONDO:0009424 "Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene." "GARD:0009658 OMIM:241200 Orphanet:93604 MESH:C537651 DOID:0110143 SCTID:700109009 Orphanet:112" http://identifiers.org/hgnc/5017 -MONDO:0017473 "Orphanet:295041 ICD10:Q74.1" +MONDO:0017473 "Orphanet:295041 ICD10CM:Q74.1" http://identifiers.org/hgnc/2529 -MONDO:0017945 "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." "Orphanet:324703 ICD10:E85.4+ ICD10:I68.0* OMIM:605714" +MONDO:0017945 "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." "Orphanet:324703 ICD10EXP:I68.0* ICD10EXP:E85.4+ OMIM:605714" MONDO:0042433 "An endocarditis (disease) caused by infection with Fungi." "UMLS:C0276648 SCTID:86348002" -MONDO:0018672 "Orphanet:449400 ICD10:I77.6" +MONDO:0018672 "ICD10CM:I77.6 Orphanet:449400" GO:0019222 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism." MONDO:0005679 "Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality." "UMLS:C0006075 EFO:0007181 MESH:D001912" MONDO:0016954 "Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person." "GARD:0005345 MESH:C536813 UMLS:C0795809 Orphanet:262851" @@ -27735,10 +27716,10 @@ MONDO:0032838 "OMIM:618622" MONDO:0002187 "A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma." "MESH:D014845 UMLS:C0042994 NCIT:C27631 DOID:2059 SCTID:5089007" MONDO:0015910 "UMLS:CN226786 Orphanet:182043" CHEBI:37324 -MONDO:0100339 "An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty." "SCTID:10394003 ICD9:334.0 UMLS:C0016719 DOID:12705 ICD10:G11.1 OMIM:229300 Orphanet:95 NCIT:C84718 MedDRA:10017374 GARD:0006468 OMIM:601992 MESH:D005621" -MONDO:0009406 "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." "MESH:C535572 OMIM:239850 DOID:0060569 SCTID:239087008 UMLS:C0795905 Orphanet:1517 ICD10:Q87.3 GARD:0008585" +MONDO:0100339 "An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty." "SCTID:10394003 ICD9:334.0 UMLS:C0016719 DOID:12705 OMIM:229300 Orphanet:95 ICD10CM:G11.1 NCIT:C84718 MedDRA:10017374 GARD:0006468 OMIM:601992 MESH:D005621" +MONDO:0009406 "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." "MESH:C535572 OMIM:239850 DOID:0060569 SCTID:239087008 UMLS:C0795905 Orphanet:1517 ICD10CM:Q87.3 GARD:0008585" PO:0030109 "A berry fruit (PO:0030108) which develops from a superior gynoecium (PO:0009062) and at maturity comprises a thickened exocarp (PO:0009085), thickened mesocarp (PO:0009087), and endocarp (PO:0009086), and has as parts juice sacs (PO:0006013) on a carpel adaxial epidermis (PO:0025618)." "PO_GIT:652" -MONDO:0017474 "ICD10:Q74.0 Orphanet:295044 SCTID:297195000 MESH:C537720 HP:0100746 GARD:0008529" +MONDO:0017474 "Orphanet:295044 SCTID:297195000 MESH:C537720 ICD10CM:Q74.0 HP:0100746 GARD:0008529" MONDO:0015077 "UMLS:CN197370 Orphanet:100091" http://identifiers.org/hgnc/2528 UBERON:0010125 @@ -27746,10 +27727,10 @@ UBERON:0015022 HP:0002718 "Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection." "UMLS:C2748958 UMLS:C4020846 UMLS:C1844383 SNOMEDCT_US:428875002" MONDO:0001398 "Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom." "NCIT:C3617 SCTID:92464009 ICD9:223.2 SCTID:126882009 DOID:11885 MESH:D014516" http://identifiers.org/hgnc/7679 -MONDO:0001239 "A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition." "UMLS:C0158996 ICD9:776.6 NCIT:C97167 SCTID:47100003 ICD10:P61.2 DOID:11243" -MONDO:0017471 "GARD:0009692 ICD10:Q74.1 MESH:C538081 SCTID:205067002 Orphanet:295036" +MONDO:0001239 "A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition." "UMLS:C0158996 ICD9:776.6 NCIT:C97167 SCTID:47100003 ICD10CM:P61.2 DOID:11243" +MONDO:0017471 "GARD:0009692 ICD10CM:Q74.1 MESH:C538081 SCTID:205067002 Orphanet:295036" GO:0042325 "Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule." -MONDO:0010461 "X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures." "DOID:0060820 UMLS:C3275464 OMIM:300860 Orphanet:163956 ICD10:Q87.8" +MONDO:0010461 "X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures." "ICD10CM:Q87.8 DOID:0060820 UMLS:C3275464 OMIM:300860 Orphanet:163956" CHEBI:83811 "Any derivative of a proteinogenic amino acid resulting from reaction at an amino group, carboxy group, or a side-chain functional group, or from the replacement of any hydrogen by a heteroatom." MONDO:0003964 "A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues." "DOID:668 MESH:D009221 NCIT:C3253 UMLS:C0027122" http://identifiers.org/hgnc/15925 @@ -27763,14 +27744,14 @@ MONDO:0012542 "OMIM:610707 DOID:0111288" CL:0002261 "An endothelial cell found in the mucosa associated with the facial skeleton." "FMA:70627" MONDO:0010147 "UMLS:C1848756 OMIM:275250" UBERON:0035316 -MONDO:0008831 "An asphyxiating thoracic dystrophy associated with variation in the region 15q13." "Orphanet:474 OMIM:208500 DOID:0110085 ICD10:Q77.2 UMLS:CN119532 UMLS:C0265275" +MONDO:0008831 "An asphyxiating thoracic dystrophy associated with variation in the region 15q13." "Orphanet:474 OMIM:208500 DOID:0110085 UMLS:CN119532 UMLS:C0265275" http://identifiers.org/hgnc/18420 -MONDO:0011445 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene." "OMIM:604360 GARD:0004919 DOID:0110764 ICD10:G11.4 SCTID:715491000 NCIT:C148317 Orphanet:2822" +MONDO:0011445 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene." "OMIM:604360 GARD:0004919 DOID:0110764 SCTID:715491000 ICD10CM:G11.4 NCIT:C148317 Orphanet:2822" MONDO:0011344 "MESH:C566359 OMIM:603588 UMLS:C1863691" MONDO:0007859 "Orphanet:369999 Orphanet:50942 GARD:0009172 Orphanet:370002 MESH:C536162 OMIM:148700" http://identifiers.org/hgnc/15924 NCIT:C19085 -MONDO:0006613 "Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." "UMLS:C0155105 ICD10:H18.06 DOID:12311 EFO:1000770 SCTID:55031000 ICD9:371.12" +MONDO:0006613 "Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium." "UMLS:C0155105 DOID:12311 EFO:1000770 SCTID:55031000 ICD9:371.12" CHEBI:37326 MONDO:0012946 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene." "OMIM:612580 MESH:C567241 DOID:0070033 UMLS:C2675488 Orphanet:178469" CL:0005026 "Multi fate stem cell that gives rise to both hepatocytes and cholangiocytes as descendants." @@ -27778,10 +27759,10 @@ HP:0000549 "Any deviation from the normal motor coordination of the eyes that al MONDO:0030906 "An disease or disorder caused by infection with Trichomonas tenax." "DOID:0050270" CL:0002122 "A B220-positive CD38-positive IgG-negative memory B cell is a CD38-positive IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype B220-positive, CD38-positive, and IgG-negative." http://identifiers.org/hgnc/7677 -MONDO:0018670 "UMLS:CN237736 Orphanet:449291 ICD10:Q99.2 OMIM:300624" +MONDO:0018670 "UMLS:CN237736 Orphanet:449291 ICD10CM:Q99.2 OMIM:300624" MONDO:0012543 "MESH:C537126 GARD:0010201 Orphanet:98673 OMIM:610708 DOID:0111438 UMLS:C1853139" -MONDO:0017472 "Orphanet:295038 ICD10:Q74.1" -MONDO:0016777 "Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs)." "ICD10:A05.1 Orphanet:254504 UMLS:C1443900 SCTID:409562009" +MONDO:0017472 "Orphanet:295038 ICD10CM:Q74.1" +MONDO:0016777 "Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs)." "Orphanet:254504 UMLS:C1443900 SCTID:409562009 ICD10CM:A05.1" NCBITaxon:2509511 "GC_ID:1" UBERON:0005448 GO:0009235 "The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom." @@ -27791,33 +27772,33 @@ HP:0000812 "An anomaly of the adnexa, uterus, and vagina (in female) or seminal MONDO:0033199 "Orphanet:90636 OMIM:617639 DOID:0080262" NBO:0000751 MONDO:0032835 "OMIM:618618" -MONDO:0013928 "Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene." "ICD10:G24.8 UMLS:C3538999 DOID:0090051 Orphanet:420492 OMIM:614860" +MONDO:0013928 "Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene." "UMLS:C3538999 ICD10CM:G24.8 DOID:0090051 Orphanet:420492 OMIM:614860" UBERON:0016481 -MONDO:0018417 "Orphanet:401800 ICD10:G11.4 UMLS:CN226122" +MONDO:0018417 "ICD10CM:G11.4 Orphanet:401800 UMLS:CN226122" MONDO:0000564 -MONDO:0012342 "7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported." "SCTID:726707004 GARD:0012076 UMLS:C1857844 UMLS:C4512054 Orphanet:96121 MESH:C565723 OMIM:609757 ICD10:Q92.3" -MONDO:0016530 "A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck." "GARD:0003191 NCIT:C97062 UMLS:C0265761 MedDRA:10023885 Orphanet:2372 ICD9:748.3 ICD10:Q31.3 SCTID:51523009 MESH:D059608" -MONDO:0020541 "An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites." "SCTID:254861002 ICD10:C56 NCIT:C8403 GARD:0008642 UMLS:C0346175 MESH:D006106 UMLS:C1370419 Orphanet:99915 UMLS:CN207442" +MONDO:0012342 "7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported." "SCTID:726707004 GARD:0012076 UMLS:C1857844 UMLS:C4512054 Orphanet:96121 MESH:C565723 OMIM:609757" +MONDO:0016530 "A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck." "GARD:0003191 NCIT:C97062 UMLS:C0265761 MedDRA:10023885 Orphanet:2372 ICD9:748.3 SCTID:51523009 ICD10CM:Q31.3 MESH:D059608" +MONDO:0020541 "An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites." "SCTID:254861002 NCIT:C8403 GARD:0008642 ICD10CM:C56 UMLS:C0346175 MESH:D006106 UMLS:C1370419 Orphanet:99915 UMLS:CN207442" UBERON:0006645 GO:1900371 "Any process that modulates the frequency, rate or extent of purine nucleotide biosynthetic processes." MONDO:0100458 "Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss." -MONDO:0006373 "A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." "ONCOTREE:PTAD Orphanet:99408 ICD10:D35.2 SCTID:254956000 MedDRA:10035079 ICDO:8272/0 NCIT:C3329 EFO:1000478 DOID:3829 UMLS:C0032000" -MONDO:0001250 "An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia." "SCTID:85149007 ICD9:371.45 MESH:C536156 DOID:11267 ICD10:H18.44 GARD:0006825 UMLS:C0152455" -MONDO:0019614 "ICD10:E23.0 Orphanet:91350" -MONDO:0011652 "Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features." "ICD9:758.39 GARD:0010130 MESH:C536801 ICD10:Q93.5 OMIM:606232 DOID:0080354 Orphanet:48652 UMLS:C1853490 SCTID:699310000" +MONDO:0006373 "A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss." "ONCOTREE:PTAD Orphanet:99408 SCTID:254956000 MedDRA:10035079 ICDO:8272/0 NCIT:C3329 EFO:1000478 DOID:3829 UMLS:C0032000 ICD10CM:D35.2" +MONDO:0001250 "An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia." "SCTID:85149007 ICD9:371.45 MESH:C536156 DOID:11267 GARD:0006825 UMLS:C0152455" +MONDO:0019614 "ICD10CM:E23.0 Orphanet:91350" +MONDO:0011652 "Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features." "ICD9:758.39 GARD:0010130 ICD10CM:Q93.5 MESH:C536801 OMIM:606232 DOID:0080354 Orphanet:48652 UMLS:C1853490 SCTID:699310000" MONDO:0044816 "An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome." "SCTID:230318005 NCIT:C35437" GO:0001501 "The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton)." MONDO:0021273 "A leiomyoma that involves the ciliary body." "UMLS:C0346386 NCIT:C4560 SCTID:255020006 ICD9:224.0" -MONDO:0015730 "Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported." "NCIT:C37865 Orphanet:1711 GARD:0005317 UMLS:C1096168 ICD10:Q92.1 MESH:C538044 SCTID:764622004" -MONDO:0019790 "Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness." "DOID:14464 SCTID:15244003 Orphanet:94093 MedDRA:10029282 ICD10:G21.0 ICD9:333.92 MESH:D009459 UMLS:C0027849 EFO:1001379 NCIT:C94829 GARD:0007195" -MONDO:0001830 "Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)" "DOID:13918 ICD9:300.81 MESH:D013001 ICD10:F45.0 SCTID:397923000" +MONDO:0015730 "Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported." "NCIT:C37865 Orphanet:1711 GARD:0005317 UMLS:C1096168 MESH:C538044 SCTID:764622004 ICD10CM:Q92.1" +MONDO:0019790 "Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness." "DOID:14464 SCTID:15244003 Orphanet:94093 MedDRA:10029282 ICD9:333.92 MESH:D009459 ICD10CM:G21.0 UMLS:C0027849 EFO:1001379 NCIT:C94829 GARD:0007195" +MONDO:0001830 "Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)" "DOID:13918 ICD9:300.81 MESH:D013001 ICD10CM:F45.0 SCTID:397923000" UBERON:0007842 UBERON:0022360 NCBITaxon:44417 "GC_ID:1" http://identifiers.org/hgnc/11386 MONDO:0033198 "OMIM:617637 Orphanet:90636 DOID:0080261" GO:0001979 "The process that modulates blood pressure by the action of chemoreceptors found in the carotid and aortic bodies and their resultant modulation of the vasomotor center. Chemoreceptors respond to oxygen, carbon dioxide and hydrogen ions." -MONDO:0018418 "ICD10:G11.4 Orphanet:401815 UMLS:CN226125" +MONDO:0018418 "Orphanet:401815 ICD10CM:G11.4 UMLS:CN226125" MONDO:0032834 "OMIM:618613" http://identifiers.org/hgnc/11120 GO:0032432 "An assembly of actin filaments that are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness." @@ -27825,20 +27806,20 @@ MONDO:0000563 "DOID:0050988" UBERON:0013720 MONDO:0000627 "A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma." "UMLS:C0347524 DOID:0060089 ICD9:227.9 ICD9:227.8 NCIT:C4621 SCTID:92085000" http://identifiers.org/hgnc/1583 -MONDO:0005453 "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale." "ICD9:746.89 ICD10:Q24.9 OMIM:615779 MESH:D006330 ICD9:746.9 UMLS:CN169364 NCIT:C95834 ICD9:746.84 EFO:0005207 SCTID:13213009 OMIM:106700 DOID:1682" +MONDO:0005453 "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale." "ICD9:746.89 OMIM:615779 MESH:D006330 ICD9:746.9 UMLS:CN169364 NCIT:C95834 ICD9:746.84 EFO:0005207 SCTID:13213009 OMIM:106700 DOID:1682" GO:0006875 "Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell." NCBITaxon:43219 "GC_ID:1" MONDO:0002285 "A disease involving the pupil." "SCTID:68633000 UMLS:C0034124 DOID:238" MONDO:0009084 "Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978." "SCTID:763213001 GARD:0000305 Orphanet:3236 OMIM:221320 UMLS:C1857340 MESH:C535993" -MONDO:0009804 "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." "ICD10:Q78.0 DOID:0110339 GARD:0008695 MESH:C536044 OMIM:610968 OMIM:616229 OMIM:610915 Orphanet:216812 SCTID:385483009 OMIM:613848 OMIM:610682 OMIM:614856 OMIM:615220 NCIT:C99002 OMIM:613982 OMIM:259440 UMLS:C0268362 OMIM:259420" +MONDO:0009804 "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." "DOID:0110339 GARD:0008695 MESH:C536044 OMIM:610968 OMIM:616229 OMIM:610915 Orphanet:216812 SCTID:385483009 OMIM:613848 OMIM:610682 ICD10CM:Q78.0 OMIM:614856 OMIM:615220 NCIT:C99002 OMIM:613982 OMIM:259440 UMLS:C0268362 OMIM:259420" MONDO:0044318 "IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017})." "OMIM:617450 UMLS:C4479517" http://identifiers.org/hgnc/13780 -MONDO:0007321 "Autosomal dominant form of chondrodysplasia punctata." "OMIM:602497 MESH:C563248 OMIM:118651 GARD:0001298 DOID:0060293 Orphanet:79344 ICD10:Q77.3 OMIM:118650" +MONDO:0007321 "Autosomal dominant form of chondrodysplasia punctata." "OMIM:602497 MESH:C563248 OMIM:118651 GARD:0001298 DOID:0060293 ICD10CM:Q77.3 Orphanet:79344 OMIM:118650" MONDO:0005627 "A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma." "UMLS:C0278996 SCTID:255055008 DOID:11934 EFO:0006859 NCIT:C3077 NCIT:C4013 UMLS:C0018671" -MONDO:0010801 "Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis." "MESH:C535779 Orphanet:3180 UMLS:C1838781 OMIM:600000 GARD:0004972 UMLS:C4274762 SCTID:716231009 ICD10:Q77.8" +MONDO:0010801 "Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis." "MESH:C535779 Orphanet:3180 UMLS:C1838781 ICD10CM:Q77.8 OMIM:600000 GARD:0004972 UMLS:C4274762 SCTID:716231009" MONDO:0018415 MONDO:0024559 "Orphanet:229 OMIM:607086 Orphanet:91387 UMLS:C0392775" -MONDO:0004679 "Leukoplakia of the vagina." "NCIT:C3663 SCTID:111420009 ICD10:N89.4 ICD9:623.1 DOID:8920 UMLS:C0156385" +MONDO:0004679 "Leukoplakia of the vagina." "NCIT:C3663 SCTID:111420009 ICD9:623.1 DOID:8920 ICD10CM:N89.4 UMLS:C0156385" MONDO:0030438 "OMIM:619527" GO:0100070 "OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates fatty acid biosynthetic process." MONDO:0032837 "OMIM:618620" @@ -27850,36 +27831,36 @@ MONDO:0019616 UBERON:0015281 http://identifiers.org/hgnc/12582 PATO:0000389 "A quality of a process inhering in a bearer by virtue of the bearer's having a sudden onset, sharp rise, and short course." -MONDO:0011160 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene." "MESH:C566611 DOID:0110470 OMIM:601869 UMLS:C1866094 ICD10:H90.3" +MONDO:0011160 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene." "MESH:C566611 DOID:0110470 OMIM:601869 UMLS:C1866094" MONDO:0014868 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene." "DOID:0080417 OMIM:617020 UMLS:C4310762" GO:0060348 "The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components." CHEBI:33890 -MONDO:0018416 "ICD10:G11.4 UMLS:CN226121 Orphanet:401795" +MONDO:0018416 "UMLS:CN226121 ICD10CM:G11.4 Orphanet:401795" MONDO:0032836 "OMIM:618619" MONDO:0030439 "OMIM:619528" MONDO:0002945 "A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back." "SCTID:402529002 UMLS:C1367861 DOID:4289 NCIT:C27541" UBERON:0006642 -MONDO:0009223 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene." "OMIM:228300 MESH:C537919 DOID:0090091 ICD9:253.4 SCTID:8829008 UMLS:C0271582 Orphanet:325448 ICD10:Q56.1 GARD:0010127" +MONDO:0009223 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene." "ICD10CM:Q56.1 OMIM:228300 MESH:C537919 DOID:0090091 ICD9:253.4 SCTID:8829008 UMLS:C0271582 Orphanet:325448 GARD:0010127" MONDO:0019615 "Orphanet:91351" http://identifiers.org/hgnc/4081 MONDO:0000560 MONDO:0002543 "An oligodendroglioma occurring during adulthood." "UMLS:C0279070 NCIT:C4014 DOID:3186 MESH:D009837" http://identifiers.org/hgnc/9816 -MONDO:0018702 "A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly" "UMLS:CN237773 Orphanet:457077 ICD10:M35.8" -MONDO:0008642 "VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." "UMLS:CN206312 OMIM:276950 ICD10:Q87.2 MedDRA:10066022 UMLS:C0220708 GARD:0005443 DOID:14679 MedDRA:10053665 UMLS:C1735591 SCTID:27742002 NCIT:C99105 Orphanet:887 OMIM:192350 ICD9:759.89" +MONDO:0018702 "A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly" "UMLS:CN237773 Orphanet:457077 ICD10CM:M35.8" +MONDO:0008642 "VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." "SCTID:27742002 GARD:0005443 MedDRA:10066022 OMIM:192350 ICD10CM:Q87.2 NCIT:C99105 MedDRA:10053665 UMLS:CN206312 UMLS:C1735591 UMLS:C0220708 ICD9:759.89 DOID:14679 OMIM:276950 Orphanet:887" MONDO:0018413 "UMLS:CN227356 Orphanet:400022" -MONDO:0018679 "Orphanet:451602 ICD10:L98.6" +MONDO:0018679 "Orphanet:451602 ICD10CM:L98.6" MONDO:0030436 "OMIM:619523" http://identifiers.org/hgnc/8618 GO:0140631 "Binds to and stops, prevents or reduces the activity of aldehyde dehydrogenase (NAD+)." MONDO:0043267 "Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex." "GARD:0007577 SCTID:400054000 UMLS:C0240903 MESH:D056653" MONDO:0005853 "A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung." "ICDO:8940/3 EFO:0007373 EFO:1000356 NCIT:C3729 MESH:D018198 UMLS:C0206625 DOID:154" HP:0012649 "A abnormal increase in the inflammatory response to injury or infection." "UMLS:C4022803" -MONDO:0007852 "Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance." "MESH:C536152 UMLS:C1835672 DOID:0111505 ICD10:Q82.8 Orphanet:2202 GARD:0003094 OMIM:148350" +MONDO:0007852 "Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance." "MESH:C536152 UMLS:C1835672 DOID:0111505 ICD10CM:Q82.8 Orphanet:2202 GARD:0003094 OMIM:148350" CHEBI:46661 "Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements." MONDO:0000308 "A systemic mycosis that arises from infection in an immunologically normal host." "DOID:0050292" http://identifiers.org/hgnc/16280 -MONDO:0012087 "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1." "ICD10:Q34.8 MESH:C535279 OMIM:608646 UMLS:C1837616 DOID:0110614" +MONDO:0012087 "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1." "MESH:C535279 OMIM:608646 UMLS:C1837616 DOID:0110614" MONDO:0019781 "A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma." "ICDO:9400/3 SCTID:147101000119108 ONCOTREE:ASTR MESH:D001254 NCIT:C60781 UMLS:C0004114" CHEBI:33247 "Any substituent group or skeleton containing carbon." UBERON:0004246 @@ -27892,7 +27873,7 @@ UBERON:0005445 GO:0060407 "Any process that stops, prevents, or reduces the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow." GO:0033048 "Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation during mitosis." http://identifiers.org/hgnc/9817 -MONDO:0018414 "Orphanet:400025 ICD10:N97.2" +MONDO:0018414 "Orphanet:400025 ICD10CM:N97.2" UBERON:0015280 MONDO:0024648 "A meningioma that affects the visual pathway." "NCIT:C5587 UMLS:C1336972" GO:0006707 "The chemical reactions and pathways resulting in the breakdown of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones." @@ -27906,25 +27887,25 @@ GO:0016485 "Any protein maturation process achieved by the cleavage of a peptide NCBITaxon:2509514 "GC_ID:1" MONDO:0015919 "Orphanet:182073 UMLS:CN200517" http://identifiers.org/hgnc/1321 -MONDO:0010987 "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22." "UMLS:C1832827 OMIM:601072 ICD10:H90.3 DOID:0110527" +MONDO:0010987 "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22." "UMLS:C1832827 OMIM:601072 DOID:0110527" CHEBI:149689 "An amino acid zwitterion obtained from the transfer of a proton from the carboxy group to the amino group of D-dopa. Major microspecies at pH 7.3." -MONDO:0009883 "Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner." "UMLS:C2752081 DOID:0060601 OMIM:262850 SCTID:716746003 MESH:C537777 Orphanet:79 GARD:0000731 ICD10:D68.8" +MONDO:0009883 "Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner." "UMLS:C2752081 DOID:0060601 ICD10CM:D68.8 OMIM:262850 SCTID:716746003 MESH:C537777 Orphanet:79 GARD:0000731" GO:0051783 "Any process that modulates the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information." UBERON:0006648 -MONDO:0019875 "ICD10:Q87.3 Orphanet:96076 UMLS:CN206810" +MONDO:0019875 "ICD10CM:Q87.3 Orphanet:96076 UMLS:CN206810" MONDO:0006191 "A clear cell adenocarcinoma that involves the endometrium." "UMLS:C0279765 DOID:5299 NCIT:C8028 EFO:1000231" UBERON:0004247 MONDO:0001783 "A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." "SCTID:721571001 DOID:1373 UMLS:C0334485 EFO:1000241 NCIT:C4262 ICDO:8930/0" MONDO:0003684 "A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones." "NCIT:C6475 ICDO:9242/3 UMLS:C1266167 DOID:5867" -MONDO:0019210 "Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC))." "ONCOTREE:MCC MESH:D015266 Orphanet:79140 SCTID:253001006 UMLS:C0007129 GARD:0009266 NCIT:C9231 ICD9:209.36 ICD10:C44.6 ICDO:8247/3 EFO:1001471 ICD10:C44.3 ICD10:C44.7" +MONDO:0019210 "Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC))." "ONCOTREE:MCC MESH:D015266 ICD10CM:C44.7 Orphanet:79140 SCTID:253001006 UMLS:C0007129 GARD:0009266 NCIT:C9231 ICD9:209.36 ICDO:8247/3 ICD10CM:C44.3 EFO:1001471 ICD10CM:C44.6" MONDO:0009554 "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene." "Orphanet:2453 MESH:C535704 OMIM:248340 DOID:0060577 UMLS:C0796032 Orphanet:293843" MONDO:0021836 "A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder." "MESH:C535611 GARD:0000579" FOODON:00001118 MONDO:0000541 "A adenocarcinoma that involves the jejunum." "DOID:0050926 HP:0030411 UMLS:C4072935" -MONDO:0005571 "Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." "UMLS:C0032461 EFO:0005804 DOID:8432 MESH:D011086 NCIT:C26863 Orphanet:98427 ICD10:D75.1 MedDRA:10036051 HP:0001901" +MONDO:0005571 "Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume." "UMLS:C0032461 EFO:0005804 DOID:8432 MESH:D011086 NCIT:C26863 Orphanet:98427 MedDRA:10036051 HP:0001901" http://identifiers.org/hgnc/4084 UBERON:0007845 -MONDO:0000592 "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination." "SCTID:10720004 ICD9:315.8 DOID:0060038" +MONDO:0000592 "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination." "SCTID:10720004 ICD10CM:F80-F89 ICD9:315.8 DOID:0060038" UBERON:0005446 http://identifiers.org/hgnc/11389 http://identifiers.org/hgnc/11123 @@ -27933,106 +27914,105 @@ MONDO:0006589 "Contact dermatitis associated with allergens or irritants found i MONDO:0032833 "OMIM:618612" http://identifiers.org/hgnc/8616 MONDO:0042491 "A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures." "NCIT:C7346 MESH:D065310" -MONDO:0003802 "A malignant neoplasm involving the cornea." "NCIT:C3565 SCTID:363464006 DOID:6199 ICD10:C69.1 NCIT:C4361 ICD9:190.4 UMLS:C0153629 UMLS:C0339304" -MONDO:0010961 "Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones." "Orphanet:71528 OMIM:600955 DOID:0111698 UMLS:C4302878 MESH:C563423 ICD10:E66.8 SCTID:722053001 UMLS:C1833053" +MONDO:0003802 "A malignant neoplasm involving the cornea." "NCIT:C3565 SCTID:363464006 DOID:6199 NCIT:C4361 ICD9:190.4 UMLS:C0153629 UMLS:C0339304" +MONDO:0010961 "Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones." "Orphanet:71528 OMIM:600955 DOID:0111698 UMLS:C4302878 MESH:C563423 ICD10CM:E66.8 SCTID:722053001 UMLS:C1833053" MONDO:0006734 "A non-metastasizing neoplasm arising from the wall of the duodenum." "MESH:D004379 SCTID:92080005 DOID:1737 SCTID:126833009 NCIT:C2995 NCIT:C4775 EFO:1000907 MedDRA:10004251" UBERON:0006647 -MONDO:0011799 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1." "DOID:0110492 OMIM:607239 ICD10:H90.3 UMLS:C1846576 MESH:C564602" +MONDO:0011799 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1." "DOID:0110492 OMIM:607239 UMLS:C1846576 MESH:C564602" MONDO:0032832 "OMIM:618608" MONDO:0030433 "OMIM:619519" http://identifiers.org/hgnc/1324 UBERON:0004248 UBERON:0009141 -MONDO:0017479 "Orphanet:295055 ICD10:Q71.0" +MONDO:0017479 "Orphanet:295055 ICD10CM:Q71.0" http://identifiers.org/hgnc/12586 MONDO:0013975 "Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene." "OMIM:614929 Orphanet:69084 UMLS:C3554117 DOID:0111660" -MONDO:0016576 "Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported." "DOID:0090020 SCTID:81208006 ICD10:Q71.6 ICD10:Q72.7 UMLS:C0265554 OMIM:606708 GARD:0006319 OMIM:183600 OMIM:246560 NCIT:C75000 OMIM:225300 OMIMPS:183600 Orphanet:2440 OMIM:605289 OMIM:313350" +MONDO:0016576 "Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported." "OMIM:246560 ICD10CM:Q72.7 OMIM:225300 ICD10CM:Q71.6 OMIM:606708 OMIM:313350 Orphanet:2440 GARD:0006319 SCTID:81208006 OMIM:605289 NCIT:C75000 UMLS:C0265554 OMIM:183600 DOID:0090020 OMIMPS:183600" MONDO:0000457 "A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification." "UMLS:C3827253 DOID:0050803 NCIT:C111694" -MONDO:0012164 "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." "SCTID:722461004 OMIM:608978 ICD10:Q87.8 UMLS:C1837026 Orphanet:3097 GARD:0003432" +MONDO:0012164 "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." "SCTID:722461004 OMIM:608978 UMLS:C1837026 Orphanet:3097 GARD:0003432 ICD10CM:Q87.8" MONDO:0018412 "Orphanet:400018 UMLS:CN227355" UBERON:0007844 MONDO:0005299 "Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage." "NCIT:C78394 DOID:2316 UMLS:C0007786 EFO:0003883 SCTID:389100007 MESH:D002545 ICD9:348.89" -MONDO:0018678 "UMLS:CN237743 Orphanet:450322 ICD10:D89.0" +MONDO:0018678 "ICD10CM:D89.0 UMLS:CN237743 Orphanet:450322" MONDO:0006427 "A melanoma characterized by the presence of malignant spindle-shaped melanocytes." "SCTID:403923002 UMLS:C0334444 DOID:3162 NCIT:C4237 EFO:1000546 ICDO:8772/3" http://identifiers.org/hgnc/11122 MONDO:0033196 "OMIMPS:227220" http://identifiers.org/hgnc/8617 MONDO:0015917 -MONDO:0018851 "Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant." "ICD10:L85.8 SCTID:716774008 UMLS:CN227546 Orphanet:493" -MONDO:0016988 "Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1)." "Orphanet:263455 SCTID:717048002 UMLS:C4274078 ICD10:E16.1" +MONDO:0018851 "Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant." "ICD10CM:L85.8 SCTID:716774008 UMLS:CN227546 Orphanet:493" +MONDO:0016988 "Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1)." "Orphanet:263455 SCTID:717048002 ICD10CM:E16.1 UMLS:C4274078" UBERON:0004249 GO:0006624 "Protein processing that takes place in the vacuole. Most protein processing in the vacuole represents proteolytic cleavage of precursors to form active enzymes." MONDO:0032831 "OMIM:618606" UBERON:0006646 -MONDO:0019591 "Insufficient production of all the anterior pituitary hormones." "MedDRA:10033662 UMLS:C0242343 OMIM:262600 OMIM:312000 ICD10:E23.0 ICD9:253.2 DOID:9410 NCIT:C110940 SCTID:32390006 Orphanet:90695" +MONDO:0019591 "Insufficient production of all the anterior pituitary hormones." "MedDRA:10033662 UMLS:C0242343 ICD10CM:E23.0 OMIM:262600 OMIM:312000 ICD9:253.2 DOID:9410 NCIT:C110940 SCTID:32390006 Orphanet:90695" MONDO:0030434 "OMIM:619521" http://identifiers.org/hgnc/1323 GO:1901715 "Any process that modulates the frequency, rate or extent of gamma-aminobutyric acid catabolic process." http://identifiers.org/hgnc/7419 MONDO:0021418 "A polyp that involves the ethmoid sinus." "UMLS:C0264248 NCIT:C3932 SCTID:23966000 ICD9:471.8" UBERON:0009142 -MONDO:0006728 "OBSOLETE. Inflammation of an intervertebral disc or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." "MESH:D015299 SCTID:2304001 EFO:1000900 DOID:10986 ICD9:722.90 UMLS:C0012624 ICD10:M46.4" +MONDO:0006728 "OBSOLETE. Inflammation of an intervertebral disc or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." "MESH:D015299 SCTID:2304001 EFO:1000900 DOID:10986 ICD9:722.90 UMLS:C0012624" MONDO:0004506 "A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic." "UMLS:C1335390 NCIT:C36088 DOID:8225" -MONDO:0005335 "A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "OMIM:114500 NCIT:C2956 EFO:0004142 MESH:D015179" -MONDO:0005417 "A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." "UMLS:C0271084 SCTID:414173003 MESH:D057135 ICD10:H35.32 EFO:0004683 DOID:10873 UMLS:C2237660 ICD9:362.52" +MONDO:0005335 "A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "NCIT:C2956 EFO:0004142 MESH:D015179" +MONDO:0005417 "A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." "UMLS:C0271084 SCTID:414173003 MESH:D057135 EFO:0004683 DOID:10873 UMLS:C2237660 ICD9:362.52" GO:0015749 "The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides." -MONDO:0016946 "Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9." "UMLS:C0265428 Orphanet:262767 GARD:0005364" MONDO:0021758 "Agranulocytosis that is autoimmune in origin." "GARD:0005717 MESH:C538171 SCTID:72050006" UBERON:0001749 MONDO:0021211 "A neoplasm (disease) that involves the brain." "NCIT:C2907" MONDO:0044885 "A benign adipose tissue neoplasm of the tonsils." "UMLS:C1336764 NCIT:C5989" -MONDO:0009910 "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." "UMLS:C0406586 GARD:0000330 SCTID:238874008 NCIT:C121565 ICD10:E34.8 OMIM:264090 Orphanet:3455 MESH:C536423 ICD9:259.8" +MONDO:0009910 "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." "UMLS:C0406586 GARD:0000330 SCTID:238874008 NCIT:C121565 OMIM:264090 Orphanet:3455 MESH:C536423 ICD10CM:E34.8 ICD9:259.8" GO:1903725 "Any process that modulates the frequency, rate or extent of phospholipid metabolic process." -MONDO:0019840 "Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles." "SCTID:720413004 Orphanet:956 GARD:0000511 ICD10:Q87.8" +MONDO:0019840 "Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles." "SCTID:720413004 Orphanet:956 ICD10CM:Q87.8 GARD:0000511" GO:0042475 "The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel." GO:0008206 "The chemical reactions and pathways involving bile acids, a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine." CHR:9606-chr1p35 MONDO:0011385 "Any disease of a degenerative nature that affects the intervertebral disc." "NCIT:C26983 SCTID:77547008 ICD9:722.6 DOID:90 NCIT:C27156 UMLS:C0410606 MESH:D055959 UMLS:C0158266 EFO:0004994" MONDO:0000319 -MONDO:0001543 "A peripheral nerve lesion that involves the sciatic nerve." "ICD10:G57.00 DOID:12528 SCTID:52585001 MESH:D020426 ICD9:355.0 SCTID:367137004 ICD10:G57.0 UMLS:C0154748" +MONDO:0001543 "A peripheral nerve lesion that involves the sciatic nerve." "DOID:12528 SCTID:52585001 MESH:D020426 ICD9:355.0 SCTID:367137004 ICD10CM:G57.0 UMLS:C0154748" MONDO:0003281 "A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst." "DOID:5118 NCIT:C7283 UMLS:C1335155" UBERON:0004242 MONDO:0005472 HP:0000739 "Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control." "MSH:D001007 SNOMEDCT_US:48694002 UMLS:C4020884 UMLS:C0003467" MONDO:0024341 "A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma." "NCIT:C7061 UMLS:C1335765" CHEBI:39015 "Protein component on the surface of lipoprotein." -MONDO:0018103 "Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts." "ICD10:L66.2 SCTID:53593008 ICD9:704.09 GARD:0000373 Orphanet:346 UMLS:CN227263" +MONDO:0018103 "Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts." "SCTID:53593008 ICD9:704.09 GARD:0000373 Orphanet:346 UMLS:CN227263" UBERON:0001748 -MONDO:0001515 "ICD9:371.4 ICD10:H18.40 UMLS:C0155118 ICD9:371.40 ICD10:H18.4 SCTID:111521006 DOID:1237 ICD9:371.49" +MONDO:0001515 "ICD9:371.4 UMLS:C0155118 ICD9:371.40 ICD10CM:H18.4 SCTID:111521006 DOID:1237 ICD9:371.49" MONDO:0022145 -MONDO:0015194 "Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias." "NCIT:C36078 Orphanet:1047 ICD9:285.0 SCTID:41841004 ICD10:D64.2 ICD10:D64.0 DOID:8955 GARD:0000667 ICD10:D64.3 ICD10:D64.1 UMLS:C0002896 MESH:D000756 MedDRA:10040661" +MONDO:0015194 "Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias." "ICD10CM:D64.2 NCIT:C36078 Orphanet:1047 ICD9:285.0 SCTID:41841004 ICD10CM:D64.3 ICD10CM:D64.0 DOID:8955 GARD:0000667 ICD10CM:D64.1 UMLS:C0002896 MESH:D000756 MedDRA:10040661" NCBITaxon:485 "GC_ID:11" CHR:9606-chr1p36 -MONDO:0018447 "An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." "UMLS:C0221290 ICD10:D16.9 Orphanet:404507 EFO:0000332 ICDO:9241/0 NCIT:C3830" +MONDO:0018447 "An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." "UMLS:C0221290 ICD10CM:D16.9 Orphanet:404507 EFO:0000332 ICDO:9241/0 NCIT:C3830" MONDO:0002999 "A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)" "NCIT:C7009 DOID:4438" MONDO:0000318 UBERON:0001062 "Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species." UBERON:0004243 CHEBI:33636 "A molecule that features two fused rings." -MONDO:0100086 "A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth." -MONDO:0019552 "Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving." "ICD10:E88.1 Orphanet:90156" +MONDO:0100086 "A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth." "ICD10CM:P50-P61 ICD10CM:P70-P74 ICD10CM:P00-P96 ICD10CM:P19-P29 ICD10CM:P76-P78 ICD10CM:P35-P39" +MONDO:0019552 "Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving." "Orphanet:90156 ICD10CM:E88.1" MONDO:0043320 "A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica." "SCTID:129179000 UMLS:C0458224 NCIT:C85012 GARD:0010026 MESH:D055958" MONDO:0007870 "OMIM:149600" GO:0045892 "Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription." -MONDO:0008113 "Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." "GARD:0002930 OMIM:164220 Orphanet:2353 MESH:C563509 SCTID:721902002 ICD10:Q87.8" +MONDO:0008113 "Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." "GARD:0002930 OMIM:164220 Orphanet:2353 MESH:C563509 SCTID:721902002 ICD10CM:Q87.8" MONDO:0000316 "DOID:0050340" GO:0022836 "Enables the transmembrane transfer of a solute by a channel that opens in response to a specific stimulus." http://identifiers.org/hgnc/26724 GO:0010259 "An aging process that has as participant a whole multicellular organism. Multicellular organism aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Multicellular organisms aging includes processes like cellular senescence and organ senescence, but is more inclusive. May precede death (GO:0016265) of an organism and may succeed developmental maturation (GO:0021700)." -MONDO:0008115 "Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." "OMIM:164280 Orphanet:1305 ICD9:759.89 UMLS:CN204984 Orphanet:391641 ICD10:Q87.8 SCTID:702431004" +MONDO:0008115 "Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." "OMIM:164280 Orphanet:1305 ICD9:759.89 UMLS:CN204984 Orphanet:391641 ICD10CM:Q87.8 SCTID:702431004" MONDO:0004011 MONDO:0002711 MONDO:0000317 CL:0000005 "Any fibroblast that is deriived from the neural crest." -MONDO:0002433 "Abnormal malignant growth of the cells that comprise the cranial nerve." "SCTID:188307009 ICD10:C72.50 ICD9:192.0 MESH:D003390 NCIT:C3571 UMLS:C0153644 DOID:2815" -MONDO:0015263 "A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death." "OMIM:612838 OMIM:616399 SCTID:418818005 MESH:D053840 OMIM:601144 OMIMPS:601144 MedDRA:10059027 ICD9:746.89 OMIM:613119 OMIM:611875 UMLS:C1142166 NCIT:C142891 OMIM:611876 OMIM:611777 DOID:0050451 NCIT:C71059 OMIM:613123 Orphanet:130 ICD10:I49.8 OMIM:613120 GARD:0001030" -MONDO:0011823 "Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome." "ICD10:Q87.8 MESH:C537704 OMIM:607371 UMLS:C1846331 Orphanet:79107 GARD:0009818" +MONDO:0002433 "Abnormal malignant growth of the cells that comprise the cranial nerve." "SCTID:188307009 ICD9:192.0 MESH:D003390 NCIT:C3571 UMLS:C0153644 DOID:2815" +MONDO:0015263 "A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death." "OMIM:612838 OMIM:616399 SCTID:418818005 MESH:D053840 OMIM:601144 OMIMPS:601144 MedDRA:10059027 ICD9:746.89 OMIM:613119 OMIM:611875 UMLS:C1142166 NCIT:C142891 OMIM:611876 OMIM:611777 DOID:0050451 NCIT:C71059 OMIM:613123 Orphanet:130 OMIM:613120 GARD:0001030" +MONDO:0011823 "Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome." "MESH:C537704 OMIM:607371 UMLS:C1846331 Orphanet:79107 GARD:0009818 ICD10CM:Q87.8" GO:0004457 "Catalysis of the reaction: lactate + NAD+ = H+ + NADH + pyruvate." -MONDO:0019411 "Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course." "UMLS:C1300229 OMIM:137360 Orphanet:85197 ICD10:Q78.4" -MONDO:0007871 "ICD10:Q10.5 OMIM:149700 MESH:C566703 Orphanet:141083 Orphanet:451612" +MONDO:0019411 "Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course." "UMLS:C1300229 OMIM:137360 ICD10CM:Q78.4 Orphanet:85197" +MONDO:0007871 "OMIM:149700 MESH:C566703 Orphanet:141083 Orphanet:451612 ICD10CM:Q10.5" MONDO:0005474 -MONDO:0001513 "ICD10:H05.26 ICD9:376.35 DOID:12364 UMLS:C0155271 SCTID:2284002" -MONDO:0017885 "Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described." "GARD:0006064 DOID:4471 SCTID:733471003 UMLS:C1266042 Orphanet:319303 UMLS:C3887514 ONCOTREE:CHRCC ICDO:8270/3 ICD10:C64 NCIT:C4146 ICDO:8317/3 EFO:0000335 MESH:D002292" +MONDO:0001513 "ICD9:376.35 DOID:12364 UMLS:C0155271 SCTID:2284002" +MONDO:0017885 "Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described." "GARD:0006064 DOID:4471 SCTID:733471003 UMLS:C1266042 Orphanet:319303 UMLS:C3887514 ONCOTREE:CHRCC ICD10CM:C64 ICDO:8270/3 NCIT:C4146 ICDO:8317/3 EFO:0000335 MESH:D002292" http://identifiers.org/hgnc/28287 GO:0050771 "Any process that stops, prevents, or reduces the frequency, rate or extent of axonogenesis." CL:2000011 "Any endothelial cell of lymphatic vessel that is part of a dermis." @@ -28047,13 +28027,13 @@ MONDO:0005786 "Virus diseases caused by the hepadnaviridae." "MESH:D018347 EFO:0 UBERON:0000109 "A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm." PATO:0001297 "A radiation reflective quality inhering in a bearer by virtue of the ratio of the energy of a wave reflected from its surface to the energy possessed by the wave striking the bearer's surface." http://identifiers.org/hgnc/27089 -MONDO:0006790 "A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" "MESH:D006936 DOID:12733 MedDRA:10020596 GARD:0006692 ICD10:K03.4 SCTID:78537008 EFO:1000970 UMLS:C0020441 ICD9:521.5" +MONDO:0006790 "A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" "MESH:D006936 DOID:12733 MedDRA:10020596 GARD:0006692 SCTID:78537008 ICD10CM:K03.4 EFO:1000970 UMLS:C0020441 ICD9:521.5" GO:0030103 "The regulated release of vasopressin from secretory granules into the blood." -MONDO:0016280 "A sarcoma involving a uterine cervix." "ICD10:C53.0 ICD10:C53.1 Orphanet:213797 ICD10:C53.8 UMLS:CN201070" -MONDO:0014010 "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene." "DOID:0060718 OMIM:615023 ICD10:Q80.2 UMLS:C3554349 Orphanet:79394" +MONDO:0016280 "A sarcoma involving a uterine cervix." "Orphanet:213797 UMLS:CN201070 ICD10CM:C53.0 ICD10CM:C53.1 ICD10CM:C53.8" +MONDO:0014010 "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene." "DOID:0060718 OMIM:615023 UMLS:C3554349 Orphanet:79394" GO:0030809 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides." GO:1903507 "Any process that stops, prevents or reduces the frequency, rate or extent of nucleic acid-templated transcription." -MONDO:0001512 "UMLS:C0155270 DOID:12363 SCTID:49774006 ICD9:376.34 ICD10:H05.25" +MONDO:0001512 "UMLS:C0155270 DOID:12363 SCTID:49774006 ICD9:376.34" ECTO:7000075 "A exposure event involving the interaction of an exposure receptor to permafrost." UBERON:0003041 MONDO:0014607 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene." "OMIM:616366 DOID:0080416 UMLS:C4225350" @@ -28061,23 +28041,23 @@ MONDO:0000314 "DOID:0050338" GO:1901564 "The chemical reactions and pathways involving organonitrogen compound." NCBITaxon:482 "GC_ID:11 PMID:7520730" MONDO:0003074 -MONDO:0019537 "Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." "DOID:5378 Orphanet:90039 ICD10:D58.2 UMLS:C0272080 ICD9:282.7 MedDRA:10055019 SCTID:66729008 NCIT:C35344" +MONDO:0019537 "Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)." "DOID:5378 Orphanet:90039 UMLS:C0272080 ICD9:282.7 ICD10CM:D58.2 MedDRA:10055019 SCTID:66729008 NCIT:C35344" MONDO:0700090 "An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations." "OMIM:600512 NCIT:C141441" GO:1901858 "Any process that modulates the frequency, rate or extent of mitochondrial DNA metabolic process." GO:0008238 "Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain, in a reaction that requires a free N-terminal amino group, C-terminal carboxyl group or both." UBERON:0001744 -MONDO:0002411 "A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others." "ICD9:301.81 NCIT:C92635 ICD10:F60.81 SCTID:80711002 DOID:2745" +MONDO:0002411 "A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others." "ICD9:301.81 ICD10CM:F60.81 NCIT:C92635 SCTID:80711002 DOID:2745" MONDO:0020847 "OMIM:618106" MONDO:0001511 "ICD9:376.21 UMLS:C0155265 DOID:12362 SCTID:19885005" -MONDO:0005993 "A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse." "EFO:0007521 ICD9:131.00 ICD10:A59.0 ICD10:A59.00 MESH:D014247 DOID:0050269 NCIT:C35083 ICD9:131.09 SCTID:35089004" +MONDO:0005993 "A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse." "EFO:0007521 ICD9:131.00 MESH:D014247 ICD10CM:A59.0 DOID:0050269 NCIT:C35083 ICD9:131.09 SCTID:35089004" MONDO:0000579 -MONDO:0016284 "Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement." "ICD10:C53.1 Orphanet:213812 ICD10:C53.0 ICD10:C53.8 UMLS:CN201074" +MONDO:0016284 "Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement." "ICD10CM:C53.1 ICD10CM:C53.8 ICD10CM:C53.0 Orphanet:213812 UMLS:CN201074" HP:0001804 "Underdevelopment of a fingernail." "UMLS:C1856786" NCBITaxon:481 "PMID:8347509 PMID:23575986 PMID:13983561 GC_ID:11 PMID:16350128" CHEBI:33892 MONDO:0009724 "Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency." "MESH:C537228 GARD:0000321 SCTID:236527004 UMLS:C0403548 ICD9:756.89 Orphanet:2613 OMIM:256020" MONDO:0012775 "Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene." "UMLS:C2677608 Orphanet:268322 Orphanet:168629 MESH:C567438 OMIM:612004" -MONDO:0010069 "Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested." "Orphanet:94095 ICD10:Q87.8 OMIM:271520 MESH:C564799 UMLS:C1849069" +MONDO:0010069 "Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested." "Orphanet:94095 OMIM:271520 MESH:C564799 UMLS:C1849069 ICD10CM:Q87.8" http://identifiers.org/hgnc/11140 MONDO:0004266 "An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes." "DOID:7531 UMLS:C1266027 ONCOTREE:AGA ICDO:8215/3 NCIT:C5609" MONDO:0003901 "A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26)." "DOID:6500 NCIT:C5146 UMLS:C1332900" @@ -28086,13 +28066,13 @@ MONDO:0002278 "A non-metastasizing neoplasm arising from the wall of the colon." GO:2001235 "Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway." CHEBI:53000 "The biological role played by a material entity when bound by a receptor of the adaptive immune system. Specific site on an antigen to which an antibody binds." UBERON:0001743 -MONDO:0019859 "Orphanet:95718 ICD10:Q89.2" -MONDO:0024619 "An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis." "MESH:D002494 UMLS:C0007684 ICD9:349.89 NCIT:C27582 SCTID:128117002 EFO:1001456" +MONDO:0019859 "ICD10CM:Q89.2 Orphanet:95718" +MONDO:0024619 "An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis." "MESH:D002494 UMLS:C0007684 ICD9:349.89 NCIT:C27582 SCTID:128117002 EFO:1001456 ICD10CM:A80-A89" http://identifiers.org/hgnc/28027 MONDO:0020848 "OMIM:618107" MONDO:0011165 "Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene." "OMIM:601894 Orphanet:84090 SCTID:722759007 GARD:0009914" -MONDO:0001510 "UMLS:C0155272 SCTID:48747004 ICD9:376.36 ICD10:H05.21 DOID:12360" -MONDO:0019573 "Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, DebrC) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS)." "Orphanet:90350 ICD10:Q82.8" +MONDO:0001510 "UMLS:C0155272 SCTID:48747004 ICD9:376.36 DOID:12360" +MONDO:0019573 "Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, DebrC) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS)." "ICD10CM:Q82.8 Orphanet:90350" HP:0000858 "Abnormally high variation in the amount of time between periods." "UMLS:C0156404 SNOMEDCT_US:80182007" UBERON:0001747 http://identifiers.org/hgnc/29222 @@ -28100,57 +28080,57 @@ MONDO:0000578 MONDO:0000312 MONDO:0001649 "Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing." "ICD9:117.9 SCTID:235602008 NCIT:C27107 UMLS:C0341109 DOID:13147" MONDO:0006239 "A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." "NCIT:C5327 UMLS:C1333944 EFO:1000288" -MONDO:0017194 "Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs." "GARD:0000916 OMIM:188700 NCIT:C118460 Orphanet:2768 OMIM:259200 DOID:14798 ICD9:736.89 MESH:C536237 SCTID:79353000 ICD10:M92.5 MedDRA:10072255" +MONDO:0017194 "Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs." "GARD:0000916 OMIM:188700 NCIT:C118460 Orphanet:2768 OMIM:259200 ICD10CM:M92.5 DOID:14798 ICD9:736.89 MESH:C536237 SCTID:79353000 MedDRA:10072255" MONDO:0014466 "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene." "OMIM:616038 Orphanet:2671 UMLS:C4015019 DOID:0080075" MONDO:0006050 "A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." "EFO:1000047 UMLS:C2211689 NCIT:C5161 UMLS:C1514169" -MONDO:0005826 "Pneumonia due to aspiration or inhalation of various oily or fatty substances." "DOID:3241 EFO:0007345 ICD10:J69.1 MESH:D011017 UMLS:C0032298 SCTID:707449006 GARD:0006394" -MONDO:0001775 "ICD10:K31.5 DOID:13687 ICD9:537.2 SCTID:52232007 UMLS:C0156087" +MONDO:0005826 "Pneumonia due to aspiration or inhalation of various oily or fatty substances." "DOID:3241 EFO:0007345 MESH:D011017 UMLS:C0032298 SCTID:707449006 GARD:0006394" +MONDO:0001775 "DOID:13687 ICD9:537.2 SCTID:52232007 UMLS:C0156087" MONDO:0020849 "OMIM:618108" MONDO:0004295 "A carcinoma arising in the lung due to exposure to asbestos." "NCIT:C27925 DOID:7596 UMLS:C1332337" UBERON:0004240 MONDO:0021326 "A cancer that involves the cervical part of esophagus." "NCIT:C4763 ICD9:150.0 UMLS:C0496773 SCTID:187722004" MONDO:0044763 "A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion." UBERON:0001746 -MONDO:0007277 "Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait." "ICD10:Q87.8 SCTID:715988005 Orphanet:1373 MESH:C536691 OMIM:115645 GARD:0005554" +MONDO:0007277 "Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait." "SCTID:715988005 ICD10CM:Q87.8 Orphanet:1373 MESH:C536691 OMIM:115645 GARD:0005554" MONDO:0000311 NCBITaxon:333774 "GC_ID:1" MONDO:0024544 "Orphanet:3220 OMIM:234580 UMLS:C1856186 DOID:0080623" http://identifiers.org/hgnc/649 -MONDO:0014043 "Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." "OMIM:615095 UMLS:C4510378 Orphanet:329228 SCTID:724141003 ICD10:Q87.1 DOID:0070294 UMLS:C3554499" +MONDO:0014043 "Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." "OMIM:615095 UMLS:C4510378 Orphanet:329228 SCTID:724141003 ICD10CM:Q87.1 DOID:0070294 UMLS:C3554499" CHR:9606-chr11q24.1 CHEBI:23359 "An alkaloid that is a carbotricyclic compound comprising 5,6,7,9-tetrahydrobenzo[a]heptalene having four methoxy substituents at the 1-, 2-, 3- and 10-positions as well as an oxo group at the 9-position and an acetamido group at the 7-position. It has been isolated from the plants belonging to genus Colchicum." UBERON:0004241 MONDO:0001095 "A neuroblastoma arising from the mediastinum." "UMLS:C1334673 DOID:10660 EFO:1000367 NCIT:C6628" -MONDO:0015566 "2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." "SCTID:719658006 UMLS:CN036809 Orphanet:1617 ICD10:Q93.5 GARD:0003746 MESH:C538316" +MONDO:0015566 "2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism." "SCTID:719658006 UMLS:CN036809 Orphanet:1617 ICD10CM:Q93.5 GARD:0003746 MESH:C538316" MONDO:0000415 "An electroclinical syndrome with onset in adolescence and adulthood." "DOID:0050705" -MONDO:0006825 "A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" "SCTID:86188000 MESH:D007729 UMLS:C0022802 ICD9:046.0 MedDRA:10023497 ICD10:A81.81 Orphanet:454745 EFO:1001008 OMIM:245300 DOID:648 ICD10:A81.8 GARD:0007617" +MONDO:0006825 "A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" "SCTID:86188000 ICD10CM:A81.81 MESH:D007729 UMLS:C0022802 ICD9:046.0 MedDRA:10023497 ICD10CM:A81.8 Orphanet:454745 EFO:1001008 OMIM:245300 DOID:648 GARD:0007617" http://identifiers.org/hgnc/6211 NCBITaxon:2732544 "GC_ID:1" ECTO:0000724 "An exposure to genotoxin." MONDO:0012677 "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene." "MESH:C566244 Orphanet:334 UMLS:C1862394 OMIM:611493" -MONDO:0007876 "OMIM:150260 ICD10:J38.0 ICD9:748.3 Orphanet:2808 UMLS:CN202762 SCTID:232442001 GARD:0005509" +MONDO:0007876 "OMIM:150260 ICD9:748.3 ICD10CM:J38.0 Orphanet:2808 UMLS:CN202762 SCTID:232442001 GARD:0005509" http://identifiers.org/hgnc/24323 -MONDO:0012571 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene." "MESH:C567057 UMLS:C1970506 DOID:0110606 OMIM:610852 ICD10:Q34.8" -MONDO:0002373 "A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body." "SCTID:254825007 DOID:2645 ICD9:215.9 UMLS:C0348424 ICD10:C45.9 ICD10:C45" +MONDO:0012571 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene." "MESH:C567057 UMLS:C1970506 DOID:0110606 OMIM:610852" +MONDO:0002373 "A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body." "SCTID:254825007 DOID:2645 ICD9:215.9 UMLS:C0348424" http://identifiers.org/hgnc/3706 MONDO:0002568 "Narrowing of the lumen of the trachea." "MESH:D014135 ICD9:519.19 DOID:3227 UMLS:C0040583 SCTID:11296007 NCIT:C78646" http://identifiers.org/hgnc/30213 GO:0007275 "The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult)." http://identifiers.org/hgnc/5013 CL:0000065 "A neurectoderm derived cell that lines the neural lumen." "FMA:70550 BTO:0001724" -MONDO:0019374 "CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive." "ICD10:G11.1 GARD:0009977 UMLS:C1847114 SCTID:726031001 UMLS:C4511633 Orphanet:83472" +MONDO:0019374 "CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive." "GARD:0009977 ICD10CM:G11.1 UMLS:C1847114 OMIM:606937 SCTID:726031001 UMLS:C4511633 Orphanet:83472" GO:0045722 "Any process that activates or increases the frequency, rate or extent of gluconeogenesis." -MONDO:0004247 "A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding." "SCTID:13200003 UMLS:C0030920 ICD9:533 DOID:750 ICD10:K27 NCIT:C3318 MESH:D010437" +MONDO:0004247 "A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding." "SCTID:13200003 UMLS:C0030920 ICD9:533 DOID:750 NCIT:C3318 MESH:D010437" http://identifiers.org/hgnc/25786 http://identifiers.org/hgnc/2509 MONDO:0004017 "UMLS:C1335416 DOID:6858 NCIT:C6755" MONDO:0022380 "A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia." "GARD:0000523" UBERON:0010390 -MONDO:0011797 "Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." "Orphanet:293168 MESH:C537217 OMIM:607225 UMLS:C2931441 GARD:0004914 ICD10:G12.2 SCTID:703543005 ICD9:343.8" -MONDO:0016007 "A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring." "ICD9:760.75 UMLS:C0432371 Orphanet:1911 SCTID:254250002 ICD10:Q86.8 GARD:0001413" -MONDO:0014154 "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy." "OMIM:615376 DOID:0110198 UMLS:C3809309 ICD10:G60.0 Orphanet:369867" +MONDO:0011797 "Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." "Orphanet:293168 ICD10CM:G12.2 MESH:C537217 OMIM:607225 UMLS:C2931441 GARD:0004914 SCTID:703543005 ICD9:343.8" +MONDO:0016007 "A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring." "ICD9:760.75 UMLS:C0432371 ICD10CM:Q86.8 Orphanet:1911 SCTID:254250002 GARD:0001413" +MONDO:0014154 "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy." "OMIM:615376 DOID:0110198 UMLS:C3809309 ICD10CM:G60.0 Orphanet:369867" MONDO:0014963 "UMLS:C4310672 OMIM:617190" -MONDO:0008146 "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." "OMIM:166200 GARD:0008694 SCTID:385482004 ICD10:Q78.0 NCIT:C99003 DOID:0110334 UMLS:CN536249 OMIM:166230 UMLS:CN201103 Orphanet:216796" +MONDO:0008146 "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." "OMIM:166200 GARD:0008694 ICD10CM:Q78.0 SCTID:385482004 NCIT:C99003 DOID:0110334 UMLS:CN536249 OMIM:166230 UMLS:CN201103 Orphanet:216796" MONDO:0009171 "OMIM:226110 UMLS:C1856970 MESH:C565591" http://identifiers.org/hgnc/6210 NCBITaxon:2732543 "GC_ID:1" @@ -28160,12 +28140,12 @@ MONDO:0011358 "UMLS:C1863617 MESH:C566346 OMIM:603670" MONDO:0007877 "OMIM:150270 MESH:C562861" MONDO:0021257 "A neoplasm (disease) that involves the jugular body." "NCIT:C3061" NCBITaxon:134742 "GC_ID:1" -MONDO:0007552 "Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." "ICD9:757.39 MESH:C535494 GARD:0002155 ICD10:Q81.2 Orphanet:79410 OMIM:131850 SCTID:67653003" +MONDO:0007552 "Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." "ICD10CM:Q81.2 ICD9:757.39 MESH:C535494 GARD:0002155 Orphanet:79410 OMIM:131850 SCTID:67653003" http://identifiers.org/hgnc/5012 GO:0051799 "Any process that stops, prevents, or reduces the frequency, rate or extent of hair follicle development." http://identifiers.org/hgnc/7675 HP:0032894 "Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age." -MONDO:0018309 "Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." "OMIM:613711 UMLS:C0019569 OMIM:600156 UMLS:C3661523 OMIMPS:142623 OMIM:606874 Orphanet:388 MESH:D006627 OMIM:608462 OMIM:613712 GARD:0006660 DOID:10487 MedDRA:10010539 OMIM:606875 ICD10:Q43.1 NCIT:C34700 OMIM:611644 SCTID:204739008 OMIM:142623 OMIM:600155" +MONDO:0018309 "Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." "OMIM:613711 UMLS:C0019569 OMIM:600156 UMLS:C3661523 OMIMPS:142623 OMIM:606874 Orphanet:388 MESH:D006627 OMIM:608462 OMIM:613712 GARD:0006660 DOID:10487 MedDRA:10010539 OMIM:606875 NCIT:C34700 OMIM:611644 SCTID:204739008 OMIM:142623 OMIM:600155" MONDO:0006413 MONDO:0060551 "UMLS:C4539985 OMIM:617643" MONDO:0024298 "A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency." "UMLS:C1510471 NCIT:C35772 UMLS:C0376286 MESH:D001361 ICD9:269.1 SCTID:85670002 EFO:0005878 ICD9:269.2" @@ -28187,31 +28167,31 @@ FOODON:03420110 MONDO:0100444 "A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina." NCBITaxon:29031 "GC_ID:1" MONDO:0018215 "A paraneoplastic syndrome that involves the nervous system." "ICD9:331.89 Orphanet:36388 SCTID:192877007 MedDRA:10072106 GARD:0007326" -MONDO:0009216 "Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism." "Orphanet:2088 OMIM:227810 GARD:0002268 ICD10:E74.0 SCTID:61598006" +MONDO:0009216 "Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism." "Orphanet:2088 OMIM:227810 GARD:0002268 SCTID:61598006 ICD10CM:E74.0" UBERON:0001742 -MONDO:0011215 "Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." "UMLS:C1865639 OMIM:602361 MESH:C537291 SCTID:722109008 GARD:0003396 Orphanet:2763 ICD10:Q78.0" +MONDO:0011215 "Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." "UMLS:C1865639 OMIM:602361 MESH:C537291 SCTID:722109008 ICD10CM:Q78.0 GARD:0003396 Orphanet:2763" MONDO:0020845 "DOID:0111524 OMIM:618098" GO:0009894 "Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of substances." http://identifiers.org/hgnc/25784 MONDO:0012558 "OMIM:610797 UMLS:C1835830 MESH:C563664" -MONDO:0004771 "A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface." "ICD9:364.21 SCTID:11226001 DOID:9375 ICD10:H20.81 UMLS:C0016782" -MONDO:0001402 "A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas." "MESH:D014625 GARD:0009348 ICD10:C52 DOID:119 NCIT:C3437 NCIT:C7410 SCTID:363445000 SCTID:126921000 ICD9:184.0" +MONDO:0004771 "A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface." "ICD9:364.21 SCTID:11226001 DOID:9375 UMLS:C0016782" +MONDO:0001402 "A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas." "MESH:D014625 GARD:0009348 DOID:119 NCIT:C3437 NCIT:C7410 SCTID:363445000 SCTID:126921000 ICD9:184.0" UBERON:0011591 MONDO:0060554 "OMIM:617660 UMLS:C4540004" MONDO:0007613 -MONDO:0013906 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene." "DOID:0110062 ICD10:K00.5 OMIM:614832 Orphanet:100033 UMLS:C3553830" -MONDO:0009352 "Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system." "UMLS:C0751202 Orphanet:394 GARD:0006667 SCTID:24308003 OMIM:236200 ICD10:E72.1 MedDRA:10071093" +MONDO:0013906 "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene." "DOID:0110062 OMIM:614832 Orphanet:100033 UMLS:C3553830" +MONDO:0009352 "Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system." "ICD10CM:E72.1 UMLS:C0751202 Orphanet:394 GARD:0006667 SCTID:24308003 OMIM:236200 MedDRA:10071093" MONDO:0014960 "UMLS:C4310675 OMIMPS:617186" http://identifiers.org/hgnc/644 http://identifiers.org/hgnc/5010 UBERON:0010393 MONDO:0020846 "OMIM:618103" MONDO:0016412 "Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." "Orphanet:226310" -MONDO:0009079 "DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome." "Orphanet:3231 DOID:0111627 SCTID:719800009 Orphanet:79500 GARD:0001685 OMIM:220500 ICD10:Q87.8 MESH:C563052" +MONDO:0009079 "DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome." "Orphanet:3231 DOID:0111627 ICD10CM:Q87.8 SCTID:719800009 Orphanet:79500 GARD:0001685 OMIM:220500 MESH:C563052" MONDO:0012320 "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene." "MESH:C566500 UMLS:C1864987 DOID:0111183 GARD:0010974 Orphanet:569 OMIM:609634" http://identifiers.org/hgnc/31673 -MONDO:0019800 "Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare)." "Orphanet:95161 ICD10:E80.2" -MONDO:0001288 "Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina." "ICD10:N80.4 UMLS:C0156346 SCTID:198253003 ICD9:617.4 DOID:11431 NCIT:C128064" +MONDO:0019800 "Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare)." "ICD10CM:E80.2 Orphanet:95161" +MONDO:0001288 "Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina." "UMLS:C0156346 SCTID:198253003 ICD10CM:N80.4 ICD9:617.4 DOID:11431 NCIT:C128064" MONDO:0012960 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene." "DOID:0070035 OMIM:612621 UMLS:C2675473 MESH:C567234 GARD:0012558" MONDO:0006415 MONDO:0003919 @@ -28222,11 +28202,11 @@ MONDO:0044343 "Any degenerative disorder affecting one or more vertebral discs o GO:0016814 "Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amidine, a compound of the form R-C(=NH)-NH2." GO:2000384 "Any process that stops, prevents or reduces the frequency, rate or extent of ectoderm development." MONDO:0013960 "Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress." "UMLS:C3554018 Orphanet:324321 OMIM:614896" -MONDO:0014159 "Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement)." "ICD10:G11.1 OMIM:615386 Orphanet:352403 DOID:0080058 UMLS:C3809327 SCTID:763351003" +MONDO:0014159 "Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement)." "OMIM:615386 Orphanet:352403 ICD10CM:G11.1 DOID:0080058 UMLS:C3809327 SCTID:763351003" MONDO:0045058 "An adenoma or carcinoma of the pituitary gland that produces corticotropin." "NCIT:C7909 UMLS:C0278862" UBERON:0011592 MONDO:0000532 "A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin." "DOID:0050917" -MONDO:0001889 "The inability of the ovaries to function." "SCTID:37102008 ICD9:256.39 ICD9:256.9 NCIT:C113351 ICD9:256.3 ICD10:E28 DOID:1414 EFO:0009003 ICD9:256.8" +MONDO:0001889 "The inability of the ovaries to function." "SCTID:37102008 ICD9:256.39 ICD9:256.9 NCIT:C113351 ICD9:256.3 ICD10CM:E28 DOID:1414 EFO:0009003 ICD9:256.8" http://identifiers.org/hgnc/26988 MONDO:0054666 "DOID:0080497 OMIM:617690 UMLS:C4540141" GO:0046434 "The chemical reactions and pathways resulting in the breakdown of organophosphates, any phosphate-containing organic compound." @@ -28238,7 +28218,7 @@ http://identifiers.org/hgnc/4908 MONDO:0100364 "Any herpes simplex type 1 infectious disease that involves the genitals." GO:0006704 "The chemical reactions and pathways resulting in the formation of glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol." HP:0000729 "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." "UMLS:C0856975 UMLS:C1510586 MSH:D000067877" -MONDO:0014256 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene." "OMIM:615565 UMLS:C3809954 ICD10:H35.5 DOID:0110359" +MONDO:0014256 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene." "OMIM:615565 UMLS:C3809954 DOID:0110359" MONDO:0011020 "Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive." "Orphanet:2786 SCTID:722113001 UMLS:C1832592 GARD:0000404 OMIM:601220 MESH:C536062" MONDO:0100371 "A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics." "NCIT:C157782" MONDO:0007873 "UMLS:C1835591 OMIM:150170 MESH:C563640" @@ -28247,8 +28227,8 @@ MONDO:0054665 "OMIM:617686 UMLS:C4540135" UBERON:0011593 CHEBI:17087 "A compound in which a carbonyl group is bonded to two carbon atoms: R2C=O (neither R may be H)." MONDO:0037829 "A disease that has its basis in the disruption of purine nucleobase metabolic process." "SCTID:32612005 UMLS:C0268104" -MONDO:0006716 "Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction." "ICD10:I21 ICD10:I22 EFO:1000883 UMLS:C0010072 SCTID:398274000 MedDRA:10011108 MESH:D003328 DOID:11847" -MONDO:0008810 "DOID:0111418 UMLS:C0268199 SCTID:33513003 ICD10:E78.3 UMLS:C1720779 OMIM:207750 Orphanet:309020" +MONDO:0006716 "Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction." "EFO:1000883 UMLS:C0010072 SCTID:398274000 MedDRA:10011108 MESH:D003328 DOID:11847" +MONDO:0008810 "ICD10CM:E78.3 DOID:0111418 UMLS:C0268199 SCTID:33513003 UMLS:C1720779 OMIM:207750 Orphanet:309020" CHR:9606-chr7q31 MONDO:0006675 MONDO:0024493 "A morphologic qualifier indicating that a cancerous lesion is poorly differentiated." "NCIT:C28079 UMLS:C0475271" @@ -28261,11 +28241,11 @@ MONDO:0020840 "UMLS:CN248786 OMIM:618042" GO:0002697 "Any process that modulates the frequency, rate, or extent of an immune effector process." UBERON:0011594 http://identifiers.org/hgnc/24587 -MONDO:0015085 "Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body." "Orphanet:100976 ICD10:Q80.2 UMLS:C4511230 OMIM:242300 SCTID:725588002" -MONDO:0010216 "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene." "Orphanet:1466 Orphanet:276267 NCIT:C3969 ICD10:Q82.1 OMIM:278780 UMLS:C0268141 UMLS:C1851443 GARD:0005629 Orphanet:910 MESH:C562593 SCTID:36454001 DOID:0110849 Orphanet:220295 Orphanet:191" +MONDO:0015085 "Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body." "Orphanet:100976 UMLS:C4511230 ICD10CM:Q80.2 OMIM:242300 SCTID:725588002" +MONDO:0010216 "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene." "Orphanet:1466 Orphanet:276267 NCIT:C3969 OMIM:278780 UMLS:C0268141 ICD10CM:Q82.1 UMLS:C1851443 GARD:0005629 Orphanet:910 MESH:C562593 SCTID:36454001 DOID:0110849 Orphanet:220295 Orphanet:191" CHEBI:57718 "Dianion of barbituric acid arising from deprotonation at the N-1 and C-5 positions." -MONDO:0007921 "Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema." "NCIT:C85238 DOID:0050468 ICD10:L60.5 GARD:0000184 OMIM:153300 MedDRA:10048244 UMLS:C0221348 ICD9:757.0 Orphanet:662 EFO:1001452 ICD9:703.8 SCTID:400211001 MESH:D056684" -MONDO:0016991 "Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases." "Orphanet:263524 OMIM:614212 SCTID:763310000 ICD10:G31.8" +MONDO:0007921 "Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema." "NCIT:C85238 DOID:0050468 GARD:0000184 OMIM:153300 MedDRA:10048244 UMLS:C0221348 ICD9:757.0 Orphanet:662 EFO:1001452 ICD9:703.8 SCTID:400211001 ICD10CM:L60.5 MESH:D056684" +MONDO:0016991 "Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases." "Orphanet:263524 OMIM:614212 SCTID:763310000 ICD10CM:G31.8" HP:0002754 "Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism." "UMLS:C0029443 SNOMEDCT_US:60168000 SNOMEDCT_US:111253001 MSH:D010019 UMLS:C2242472" http://identifiers.org/hgnc/5273 MONDO:0054669 "OMIM:617695" @@ -28280,10 +28260,10 @@ MONDO:0003914 GO:1903787 "Any process that stops, prevents or reduces the frequency, rate or extent of glutathione biosynthetic process." GO:0009967 "Any process that activates or increases the frequency, rate or extent of signal transduction." MONDO:0011544 "Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene." "OMIM:605373 GARD:0010545 Orphanet:29072 UMLS:C1854336" -MONDO:0019637 "Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." "Orphanet:93101 DOID:0080204 HP:0000089 ICD10:Q60.4 ICD10:Q60.5 ICD10:Q60.3 MedDRA:10049102 SCTID:32659003" -MONDO:0008816 "Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache." "OMIM:207950 MedDRA:10056945 Orphanet:1136 ICD10:Q07.0 GARD:0009232 SCTID:373587001" +MONDO:0019637 "Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied." "Orphanet:93101 DOID:0080204 HP:0000089 MedDRA:10049102 ICD10CM:Q60.4 ICD10CM:Q60.3 SCTID:32659003" +MONDO:0008816 "Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache." "OMIM:207950 MedDRA:10056945 Orphanet:1136 GARD:0009232 SCTID:373587001" NCBITaxon:2732541 "GC_ID:1" -MONDO:0013178 "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." "DOID:0110640 Orphanet:157973 GARD:0012585 ICD10:G71.2 UMLS:C2750785 MESH:C567708 NCIT:C148369 OMIM:613205" +MONDO:0013178 "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." "DOID:0110640 Orphanet:157973 ICD10CM:G71.2 GARD:0012585 UMLS:C2750785 MESH:C567708 NCIT:C148369 OMIM:613205" http://identifiers.org/hgnc/6470 MONDO:0021907 "Aplasia cutis with autosomal recessive inheritance." "GARD:0000749" MONDO:0020841 "OMIM:618056 UMLS:CN252657" @@ -28294,17 +28274,17 @@ MONDO:0002717 "NCIT:C5428 UMLS:C1334259 DOID:3639" MONDO:0020179 "A melanocytic nevus that involves the skin of eyelid." "Orphanet:98588 UMLS:C0239460 SCTID:231827008 NCIT:C3880" MONDO:0004094 "Multiple meningiomas that affect the skull base." "UMLS:C1334829 NCIT:C5279 DOID:7054" NCBITaxon:2731342 "GC_ID:1" -MONDO:0008627 "A malignant neoplasm involving the ureter" "NCIT:C7543 MESH:D014516 ICD10:C66 UMLS:C0153619 ICD9:189.2 DOID:11819 SCTID:363458004 OMIM:191600" +MONDO:0008627 "A malignant neoplasm involving the ureter" "NCIT:C7543 MESH:D014516 UMLS:C0153619 ICD9:189.2 DOID:11819 SCTID:363458004 OMIM:191600 ICD10CM:C66" UBERON:0010131 MONDO:0001518 "SCTID:20828000 UMLS:C0155190 DOID:12395 ICD9:374.03" -MONDO:0018663 "OMIM:618019 Orphanet:448267 ICD10:Q77.8 UMLS:CN248525" +MONDO:0018663 "ICD10CM:Q77.8 OMIM:618019 Orphanet:448267 UMLS:CN248525" http://identifiers.org/hgnc/17493 MONDO:0015904 "UMLS:CN226783 Orphanet:181431" http://identifiers.org/hgnc/6207 UBERON:0011596 MONDO:0020036 "OBSOLETE. Rare nervous system cancer." "Orphanet:98062" -MONDO:0008390 "Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." "GARD:0004738 UMLS:C1867147 ICD10:L98.8 MESH:C535870 Orphanet:3110 OMIM:180730 SCTID:721904001" -MONDO:0017051 "Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." "Orphanet:268145 OMIM:248600 ICD10:E71.0" +MONDO:0008390 "Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." "GARD:0004738 UMLS:C1867147 ICD10CM:L98.8 MESH:C535870 Orphanet:3110 OMIM:180730 SCTID:721904001" +MONDO:0017051 "Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." "Orphanet:268145 OMIM:248600 ICD10CM:E71.0" NCBITaxon:1593277 "GC_ID:1" GO:1904730 "Any process that stops, prevents or reduces the frequency, rate or extent of intestinal lipid absorption." UBERON:0015037 @@ -28313,7 +28293,7 @@ MONDO:0009168 "OMIM:225790 DOID:0111666 Orphanet:221126 MESH:C565593 ICD9:596.5 http://identifiers.org/hgnc/5009 CL:0002029 "A lineage-negative, Kit-positive, CD45-positive mast cell progenitor that is Fc-epsilon RIalpha-low." MONDO:0014731 "Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects." "GARD:0009960 UMLS:C4225248 Orphanet:466926 OMIM:616682" -MONDO:0017465 "ICD10:Q74.0 Orphanet:295024" +MONDO:0017465 "ICD10CM:Q74.0 Orphanet:295024" http://identifiers.org/hgnc/12338 MONDO:0021468 "A benign neoplasm that involves the adrenal medulla." "SCTID:91968002 NCIT:C4895 UMLS:C0686512" GO:0048580 "Any process that modulates the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure." @@ -28323,15 +28303,15 @@ MONDO:0100037 "A pityriasis rubra pilaris that has a juvenile onset. The peak in http://identifiers.org/hgnc/4075 MONDO:0004556 "A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose." "DOID:8415 NCIT:C27389 UMLS:C1332840" HP:0010876 "An abnormal level of a circulating protein in the blood." "UMLS:C4020763 UMLS:C4020764 UMLS:C4023679" -MONDO:0007289 "A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24." "OMIM:116700 UMLS:C3805373 ICD10:Q12.0 DOID:0110242 Orphanet:91492" +MONDO:0007289 "A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24." "OMIM:116700 UMLS:C3805373 DOID:0110242 Orphanet:91492" MONDO:0011879 "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene." "MESH:C564362 DOID:0111202 UMLS:C1843315 Orphanet:139589 OMIM:607641" http://identifiers.org/hgnc/17494 http://identifiers.org/hgnc/22197 MONDO:0004186 "A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." "UMLS:C1333162 NCIT:C27248 DOID:7326" -MONDO:0012014 "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology." "OMIM:608340 MESH:C564256 DOID:0110201 GARD:0012453 ICD10:G60.0 Orphanet:217055 UMLS:C1842197" +MONDO:0012014 "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology." "OMIM:608340 MESH:C564256 DOID:0110201 GARD:0012453 ICD10CM:G60.0 Orphanet:217055 UMLS:C1842197" GO:2000870 "Any process that modulates the frequency, rate or extent of progesterone secretion." UBERON:0011597 -MONDO:0017850 "Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth." "GARD:0007652 SCTID:67254002 Orphanet:3169 UMLS:C0037205 MedDRA:10049216 NCIT:C118455 OMIM:600145 ICD10:Q87.2" +MONDO:0017850 "Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth." "GARD:0007652 SCTID:67254002 Orphanet:3169 ICD10CM:Q87.2 UMLS:C0037205 MedDRA:10049216 NCIT:C118455 OMIM:600145" http://identifiers.org/hgnc/3976 UBERON:0010399 MONDO:0006324 "A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues." "NCIT:C53557 EFO:1000402 UMLS:C3642471" @@ -28340,7 +28320,7 @@ HP:0025276 "Any functional anomaly of the skin adnexa (skin appendages), which a http://identifiers.org/hgnc/5008 MONDO:0021289 "A in situ carcinoma that involves the caecum." "SCTID:92559007 UMLS:C0347126 NCIT:C4594" CHEBI:52254 "A phosphate mineral with the general formula Ca5(PO4)3X where X = OH, F or Cl." -MONDO:0017466 "Orphanet:295026 ICD10:Q74.0" +MONDO:0017466 "ICD10CM:Q74.0 Orphanet:295026" UBERON:0010133 NBO:0000747 MONDO:0034127 "Orphanet:555905" @@ -28350,27 +28330,27 @@ http://identifiers.org/hgnc/11139 http://identifiers.org/hgnc/2514 http://identifiers.org/hgnc/4076 UBERON:0009133 -MONDO:0016568 "Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983." "UMLS:C2931080 Orphanet:2408 MESH:C535996 ICD10:Q87.8 GARD:0001695 SCTID:766249007" +MONDO:0016568 "Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983." "UMLS:C2931080 Orphanet:2408 MESH:C535996 GARD:0001695 ICD10CM:Q87.8 SCTID:766249007" UBERON:0011332 HP:0002143 "An abnormality of the spinal cord (myelon)." "UMLS:C4025722 SNOMEDCT_US:48522003 UMLS:C0037928 MSH:D013118" http://identifiers.org/hgnc/24595 MONDO:0011353 "OMIM:603642 MESH:C566351 UMLS:C1863648" -MONDO:0016000 "OMIM:146200 Orphanet:189466 UMLS:CN200646 ICD10:E20.8" +MONDO:0016000 "OMIM:146200 Orphanet:189466 UMLS:CN200646 ICD10CM:E20.8" GO:0031642 "Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a myelin sheath around nerve axons." MONDO:0042496 "Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine." "SCTID:51510002 ICD9:988.2 MESH:D004881 GARD:0000196" -MONDO:0016660 "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." "OMIM:608716 GARD:0012117 MESH:C579935 SCTID:715981004 OMIMPS:251200 OMIM:616681 OMIM:616486 OMIM:616402 OMIM:608393 OMIM:615414 OMIM:614673 UMLS:C3711387 OMIM:617090 ICD10:Q02 OMIM:604321 DOID:0070296 OMIM:251200 OMIM:616080 OMIM:603802 OMIM:604317 OMIM:604804 Orphanet:2512 OMIM:614852 OMIM:612703" +MONDO:0016660 "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." "OMIM:608716 GARD:0012117 MESH:C579935 SCTID:715981004 OMIMPS:251200 OMIM:616681 OMIM:616486 OMIM:616402 OMIM:608393 ICD10CM:Q02 OMIM:615414 OMIM:614673 UMLS:C3711387 OMIM:617090 OMIM:604321 DOID:0070296 OMIM:251200 OMIM:616080 OMIM:603802 OMIM:604317 OMIM:604804 Orphanet:2512 OMIM:614852 OMIM:612703" MONDO:0012550 "UMLS:C1853115 OMIM:610744" MONDO:0000470 "A disease involving the endocardium." "DOID:0050825 SCTID:123596001 UMLS:C0854140" GO:0060124 "Any process that increases the frequency, rate or extent of the regulated release of growth hormone from a cell." MONDO:0015901 "Orphanet:181422" -MONDO:0017220 "Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course." "ICD10:Q32.1 UMLS:CN202702 Orphanet:280205" +MONDO:0017220 "Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course." "ICD10CM:Q32.1 UMLS:CN202702 Orphanet:280205" GO:0048477 "The complete process of formation and maturation of an ovum or female gamete from a primordial female germ cell. Examples of this process are found in Mus musculus and Drosophila melanogaster." -MONDO:0010155 "ICD10:E75.5 Orphanet:98907 GARD:0003979 OMIM:275630 SCTID:19604005" +MONDO:0010155 "Orphanet:98907 GARD:0003979 OMIM:275630 ICD10CM:E75.5 SCTID:19604005" MONDO:0008801 "OMIM:207000" UBERON:0010134 http://identifiers.org/hgnc/2515 UBERON:0015035 -MONDO:0017463 "ICD10:Q74.2 Orphanet:295020" +MONDO:0017463 "ICD10CM:Q74.2 Orphanet:295020" NCIT:C36869 MONDO:0004450 "A occlusion precerebral artery that involves the carotid artery segment." "UMLS:C0265101 ICD9:433.10 SCTID:266254007 DOID:807" MONDO:0011352 "MESH:C566352 UMLS:C1863649 OMIM:603641" @@ -28381,20 +28361,20 @@ UBERON:0039261 http://identifiers.org/hgnc/16297 MONDO:0011613 "Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene." "OMIM:605909 DOID:0060369 MESH:C565276 Orphanet:2828" HP:0001384 "An abnormality of the hip joint." "UMLS:C4020870" -MONDO:0020465 "Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." "Orphanet:99176 SCTID:715769008 ICD10:Q10.3" +MONDO:0020465 "Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips." "ICD10CM:Q10.3 Orphanet:99176 SCTID:715769008" MONDO:0014935 "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene." "UMLS:C4310697 DOID:0111787 OMIM:617137" MONDO:0016265 CL:0001053 "A memory B cell that lacks expression of surface IgD." MONDO:0012551 "Orphanet:701 UMLS:C1853104 MESH:C565186 Orphanet:700 OMIM:610753" UBERON:0015036 -MONDO:0005898 "An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans." "UMLS:C0030578 SCTID:71906005 DOID:13117 ICD10:L03.0 NCIT:C79702 EFO:0007421 ICD9:681.9 HP:0001818 MESH:D010304" +MONDO:0005898 "An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans." "UMLS:C0030578 SCTID:71906005 DOID:13117 NCIT:C79702 EFO:0007421 ICD9:681.9 HP:0001818 MESH:D010304" MONDO:0006135 "A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES)." "UMLS:C1332912 ONCOTREE:CECC EFO:1000163 DOID:5303 NCIT:C6344" -MONDO:0019753 "Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection." "NCIT:C115200 Orphanet:93685 UMLS:C3898582 ICD10:D36.0 GARD:0006005 UMLS:CN206685" -MONDO:0015900 "Orphanet:181419 SCTID:60086000 UMLS:C0020595 GARD:0002874 MESH:D006994 ICD10:E27.4" -MONDO:0012629 "A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31." "Orphanet:98810 MESH:C567001 ICD10:G24.8 DOID:0090047 OMIM:611147 UMLS:C1970149" +MONDO:0019753 "Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection." "NCIT:C115200 Orphanet:93685 UMLS:C3898582 ICD10CM:D36.0 GARD:0006005 UMLS:CN206685" +MONDO:0015900 "Orphanet:181419 SCTID:60086000 UMLS:C0020595 GARD:0002874 MESH:D006994 ICD10CM:E27.4" +MONDO:0012629 "A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31." "Orphanet:98810 MESH:C567001 DOID:0090047 OMIM:611147 UMLS:C1970149" MONDO:0006556 "Skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual." "DOID:3158 MESH:D006229 EFO:1000706 UMLS:C0018567" MONDO:0014968 "UMLS:C4310667 OMIM:617207" -MONDO:0017464 "ICD10:Q74.2 Orphanet:295022" +MONDO:0017464 "ICD10CM:Q74.2 Orphanet:295022" UBERON:0010135 GO:0007165 "The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell." http://identifiers.org/hgnc/8864 @@ -28406,13 +28386,13 @@ UBERON:0016497 http://identifiers.org/hgnc/6469 MONDO:0020077 "Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS." "Orphanet:98275 GARD:0009351 MESH:D054437" MONDO:0032827 "OMIM:618596" -MONDO:0010860 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene." "OMIM:600316 UMLS:C1838263 DOID:0110488 ICD10:H90.3 MESH:C563961" +MONDO:0010860 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene." "OMIM:600316 UMLS:C1838263 DOID:0110488 MESH:C563961" ECTO:9001694 "An exposure to antibacterial agent." MONDO:0034122 CL:0001023 "A common myeloid progenitor that is Kit-positive and CD34-positive, Il7ra-negative, and is SCA1-low and Fcgr2-low and Fcgr3-low." MONDO:0010157 "GARD:0004268 MESH:C562658 SCTID:12045002 ICD9:259.4 OMIM:276100 UMLS:C0268473" MONDO:0008807 "UMLS:C0520680 OMIM:107640 OMIM:207720" -MONDO:0005738 "A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock." "ICD9:122.9 EFO:0007245 ICD10:B67.90 ICD10:B67 SCTID:74942003 DOID:1496 UMLS:C0013502 ICD9:122 MESH:D004443 NCIT:C84682" +MONDO:0005738 "A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock." "ICD9:122.9 EFO:0007245 SCTID:74942003 DOID:1496 UMLS:C0013502 ICD9:122 MESH:D004443 NCIT:C84682" http://identifiers.org/hgnc/5005 MONDO:0005603 "A tubular adenocarcinoma that involves the pancreas." "EFO:0006471" http://identifiers.org/hgnc/4912 @@ -28422,7 +28402,7 @@ MONDO:0005626 "A benign or malignant neoplasm that arises from and is composed o GO:0042593 "Any process involved in the maintenance of an internal steady state of glucose within an organism or cell." http://identifiers.org/hgnc/1318 MONDO:0060556 "UMLS:C4540020 OMIM:617662 Orphanet:527450" -MONDO:0005071 "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves." "DOID:863 ICD10:G00-G99 ICD9:349.9 ICD10:G98 EFO:0000618 ICD10:G98.8 MESH:D009422 ICD9:349.89 UMLS:C0027765 Wikipedia:Nervous_system_disease NCIT:C26835 ICD10:G00.G99 SCTID:118940003 NCIT:C2934" +MONDO:0005071 "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves." "UMLS:C0027765 ICD9:349.89 SCTID:118940003 ICD10CM:G00-G09 EFO:0000618 Wikipedia:Nervous_system_disease DOID:863 NCIT:C2934 ICD10CM:G89-G99 ICD10CM:G00-G99 ICD9:349.9 MESH:D009422 NCIT:C26835" MONDO:0011354 "OMIM:603643 UMLS:C1863647 MESH:C536666 GARD:0008567" MONDO:0032826 "OMIM:618594" NCBITaxon:27994 "GC_ID:1" @@ -28431,12 +28411,12 @@ GO:0055118 "Any process that stops, prevents, or reduces the frequency, rate or MONDO:0019776 "Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "SCTID:721875000 Orphanet:93972 OMIM:309580" MONDO:0003777 "A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma." "UMLS:C1514844 DOID:6119 NCIT:C4528" CHEBI:76837 "An EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor that inhibits the action of any oxidoreductase incorporating 2 atoms of oxygen (EC 1.13.11.*)." -MONDO:0010614 "X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." "ICD10:Q84.2 Orphanet:79495 GARD:0002863 MESH:C538388 OMIM:307150 Orphanet:2222" +MONDO:0010614 "X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." "Orphanet:79495 GARD:0002863 MESH:C538388 OMIM:307150 Orphanet:2222 ICD10CM:Q84.2" CHEBI:17996 "A halide anion formed when chlorine picks up an electron to form an an anion." http://identifiers.org/hgnc/5004 MONDO:0003929 "A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva." "UMLS:C1519982 NCIT:C40290 DOID:6569" GO:0045759 "Any process that stops, prevents, or reduces the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels." -MONDO:0001343 "Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction." "ICD9:588.9 ICD9:588.8 ICD10:N25 SCTID:197663003 ICD9:588.89 DOID:11705" +MONDO:0001343 "Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction." "ICD9:588.9 ICD9:588.8 ICD10CM:N25 SCTID:197663003 ICD9:588.89 DOID:11705" UBERON:0035307 http://identifiers.org/hgnc/4913 MONDO:0001693 "A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation." "ICD9:302.0 DOID:13352" @@ -28448,11 +28428,11 @@ MONDO:0019973 "Persistent placoid maculopathy is characterised by white plaque-l MONDO:0005209 MONDO:0032829 "OMIM:618603" CHEBI:15366 "A simple monocarboxylic acid containing two carbons." -MONDO:0011985 "A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation." "Orphanet:183666 ICD10:D80.5 OMIM:608184 MESH:C564277 GARD:0010580 Orphanet:101091 DOID:0060760 UMLS:C1842413" +MONDO:0011985 "A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation." "Orphanet:183666 OMIM:608184 MESH:C564277 GARD:0010580 Orphanet:101091 DOID:0060760 UMLS:C1842413 ICD10CM:D80.5" HP:0008055 "Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid." "UMLS:C4024746" MONDO:0008805 http://identifiers.org/hgnc/2519 -MONDO:0002172 "An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube." "ICD9:381.5 ICD10:H68.0 ICD9:381.50 UMLS:C0155428 DOID:2000 ICD10:H68.009 ICD10:H68.00 SCTID:270491006" +MONDO:0002172 "An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube." "ICD9:381.5 ICD9:381.50 UMLS:C0155428 DOID:2000 ICD10CM:H68.0 SCTID:270491006" UBERON:0015031 http://identifiers.org/hgnc/17233 MONDO:0006446 "A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent." "EFO:1000565 NCIT:C6341 UMLS:C0238448 DOID:5680" @@ -28467,11 +28447,11 @@ http://identifiers.org/hgnc/16035 MONDO:0032828 "OMIM:618598" http://identifiers.org/hgnc/24592 MONDO:0011356 "GARD:0008280 UMLS:C1863622 MESH:C535723 OMIM:603656" -MONDO:0019507 "Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body." "OMIM:615887 OMIM:204650 GARD:0005791 OMIM:613211 OMIM:104510 Orphanet:88661 OMIM:614832 OMIM:104500 OMIM:616221 OMIM:301200 MESH:D000567 OMIM:301201 CSP:0828-0533 OMIM:130900 OMIM:612529 OMIM:204700 SCTID:78494001 ICD10:K00.5 OMIM:617217 OMIMPS:104500 DOID:2187 OMIM:104530 OMIM:616270 ICD9:520.5" +MONDO:0019507 "Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body." "OMIM:615887 OMIM:204650 ICD10CM:K00.5 GARD:0005791 OMIM:613211 OMIM:104510 Orphanet:88661 OMIM:614832 OMIM:104500 OMIM:616221 OMIM:301200 MESH:D000567 OMIM:301201 CSP:0828-0533 OMIM:130900 OMIM:612529 OMIM:204700 SCTID:78494001 OMIM:617217 OMIMPS:104500 DOID:2187 OMIM:104530 OMIM:616270 ICD9:520.5" MONDO:0016261 -MONDO:0015570 "Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance." "Orphanet:162526 ICD10:Q16.3" +MONDO:0015570 "Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance." "Orphanet:162526" MONDO:0006188 "An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma." "EFO:1000228 NCIT:C80373 UMLS:C2699838" -MONDO:0005220 "A carcinoma that arises from epithelial cells of the collecting duct of renal tubule" "ICD10:C64 EFO:0003016 DOID:4464 MESH:D002292 Orphanet:247203 GARD:0009573 UMLS:C1266044 NCIT:C6194 ONCOTREE:CDRCC ICDO:8319/3" +MONDO:0005220 "A carcinoma that arises from epithelial cells of the collecting duct of renal tubule" "EFO:0003016 DOID:4464 MESH:D002292 Orphanet:247203 GARD:0009573 UMLS:C1266044 NCIT:C6194 ONCOTREE:CDRCC ICD10CM:C64 ICDO:8319/3" MONDO:0004086 "A epithelioid cell melanoma that involves the ciliary body." "DOID:7042 NCIT:C6119 UMLS:C1333050" MONDO:0001502 "A carcinoma that arises from epithelial cells of the retroperitoneal space." "NCIT:C7352 UMLS:C0948749 DOID:12342" MONDO:0014964 @@ -28480,11 +28460,11 @@ GO:0046034 "The chemical reactions and pathways involving ATP, adenosine triphos MONDO:0010158 "OMIM:276200" MONDO:0008804 http://identifiers.org/hgnc/2518 -MONDO:0009145 "A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." "UMLS:C1857069 OMIM:224750 ICD10:Q82.8 ICD9:758.89 SCTID:700062000 Orphanet:50944 MESH:C565607 DOID:0111647" -MONDO:0012908 "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene." "ICD10:D84.1 DOID:0060299 OMIM:612446 UMLS:C2676232 Orphanet:169150" -MONDO:0018053 "Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins)." "Orphanet:33364 GARD:0012109 OMIM:616943 OMIMPS:601675 OMIM:601675 MedDRA:10044628 UMLS:C1955934 OMIM:616395 OMIM:300953 OMIM:616390 OMIM:234050 NCIT:C4924 ICD10:L67.8 SCTID:723551003" +MONDO:0009145 "A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." "UMLS:C1857069 OMIM:224750 ICD9:758.89 SCTID:700062000 Orphanet:50944 MESH:C565607 DOID:0111647 ICD10CM:Q82.8" +MONDO:0012908 "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene." "DOID:0060299 OMIM:612446 UMLS:C2676232 Orphanet:169150" +MONDO:0018053 "Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins)." "Orphanet:33364 GARD:0012109 OMIM:616943 OMIMPS:601675 OMIM:601675 MedDRA:10044628 UMLS:C1955934 ICD10CM:L67.8 OMIM:616395 OMIM:300953 OMIM:616390 OMIM:234050 NCIT:C4924 SCTID:723551003" UBERON:0007831 -MONDO:0013052 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene." "MESH:C567854 UMLS:C2751986 DOID:0110386 OMIM:612943 ICD10:H35.5" +MONDO:0013052 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene." "MESH:C567854 UMLS:C2751986 DOID:0110386 OMIM:612943" MONDO:0033187 "Orphanet:478029" GO:0060051 "Any process that stops, prevents, or reduces the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins." http://identifiers.org/hgnc/11133 @@ -28502,33 +28482,32 @@ MONDO:0019602 "Orphanet:91088 UMLS:CN206450" NCBITaxon:1224 "PMID:11542017 PMID:26654112 GC_ID:11 PMID:29458499 PMID:11837318 PMID:16280474 PMID:11321122" CHR:9606-chr17q1 UBERON:0006633 -MONDO:0008685 "A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes." "OMIM:194200 Orphanet:907 SCTID:17869006 HP:0001716 ICD9:426.7 NCIT:C35132 DOID:384 EFO:1001450 ICD10:I45.6" +MONDO:0008685 "A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes." "OMIM:194200 Orphanet:907 SCTID:17869006 HP:0001716 ICD9:426.7 NCIT:C35132 DOID:384 EFO:1001450" UBERON:0014930 MONDO:0017207 "UMLS:C1334465 Orphanet:279911 NCIT:C7185" MONDO:0022577 "A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations." "GARD:0000892" http://identifiers.org/hgnc/20893 NCBITaxon:39725 "GC_ID:1" UBERON:0005437 -MONDO:0016840 "Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." "ICD10:Q92.2 UMLS:C0795865 SCTID:717049005 GARD:0005318 MESH:C538048 Orphanet:261290" +MONDO:0016840 "Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features." "UMLS:C0795865 SCTID:717049005 ICD10CM:Q92.2 GARD:0005318 MESH:C538048 Orphanet:261290" UBERON:0007830 MONDO:0100033 "Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy." CHR:9606-chr2p1 -MONDO:0009548 "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." "MESH:C536148 GARD:0003451 ICD10:E83.4 Orphanet:2196 DOID:0060881 OMIM:248190" -MONDO:0019226 "An acquired metabolic disease that is has its basis in the disruption of glucose transport." "ICD10:E74.8 UMLS:CN227593 Orphanet:79178" +MONDO:0009548 "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." "MESH:C536148 ICD10CM:E83.4 GARD:0003451 Orphanet:2196 DOID:0060881 OMIM:248190" +MONDO:0019226 "An acquired metabolic disease that is has its basis in the disruption of glucose transport." "ICD10CM:E74.8 UMLS:CN227593 Orphanet:79178" MONDO:0032822 "OMIM:618580" http://identifiers.org/hgnc/11132 UBERON:0008196 MONDO:0014468 "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene." "OMIM:616040 DOID:0110659 UMLS:C4015038" MONDO:0018406 "Orphanet:399994 UMLS:CN227351" -MONDO:0000575 -MONDO:0011066 "Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus)." "UMLS:C1832399 Orphanet:99955 GARD:0001253 SCTID:715803003 DOID:0110191 ICD10:G60.0 OMIM:601382 MESH:C535420" +MONDO:0011066 "Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus)." "UMLS:C1832399 Orphanet:99955 GARD:0001253 SCTID:715803003 DOID:0110191 ICD10CM:G60.0 OMIM:601382 MESH:C535420" MONDO:0010737 "X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern." "OMIM:313400 GARD:0004985 Orphanet:93284" MONDO:0013542 "Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene." "Orphanet:2573 OMIM:614042 UMLS:C3279690" MONDO:0005318 "A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology." "HP:0032154 SCTID:427617000 MESH:D013281 NCIT:C62546 EFO:0003938 DOID:9663" MONDO:0003071 UBERON:0004239 -MONDO:0001247 "An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable." "SCTID:25501002 MESH:D010698 NCIT:C34927 ICD9:300.23 ICD10:F40.10 EFO:1001917 ICD10:F40.1 DOID:11257" -MONDO:0012221 "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy." "GARD:0000116 UMLS:C1836545 Orphanet:3137 OMIM:609241 Orphanet:79279 ICD10:E77.1 GARD:0003903 Orphanet:79281" +MONDO:0001247 "An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable." "SCTID:25501002 MESH:D010698 NCIT:C34927 ICD9:300.23 EFO:1001917 DOID:11257" +MONDO:0012221 "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy." "GARD:0000116 UMLS:C1836545 Orphanet:3137 OMIM:609241 Orphanet:79279 GARD:0003903 ICD10CM:E77.1 Orphanet:79281" MONDO:0032821 "OMIM:618578" UBERON:0006632 GO:0002716 "Any process that stops, prevents, or reduces the frequency, rate, or extent of natural killer cell mediated immunity." @@ -28536,31 +28515,31 @@ http://identifiers.org/hgnc/12597 UBERON:0015030 MONDO:0002757 "A acute sanguinous otitis media caused by an allergen." "UMLS:C0155420 SCTID:17866004 ICD9:381.06 DOID:3728" MONDO:0017208 -MONDO:0001774 "ICD9:379.07 DOID:13676 SCTID:267660007 ICD10:H15.03 UMLS:C0155357" +MONDO:0001774 "ICD9:379.07 DOID:13676 SCTID:267660007 UMLS:C0155357" CHEBI:33238 "A monoatomic entity is a molecular entity consisting of a single atom." -MONDO:0011776 "Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." "SCTID:239826001 DOID:0090029 OMIM:607115 ICD10:E85.0 ICD9:759.89 NCIT:C116380 Orphanet:1451 GARD:0001356" +MONDO:0011776 "Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs." "ICD10CM:E85.0 DOID:0090029 ICD9:759.89 SCTID:239826001 OMIM:607115 NCIT:C116380 GARD:0001356 Orphanet:1451" HP:0020064 "Any deviation from the normal number of eosinophils per volume in the blood circulation." -MONDO:0018403 "ICD10:N97.2 Orphanet:399882" +MONDO:0018403 "ICD10CM:N97.2 Orphanet:399882" UBERON:0008193 http://identifiers.org/hgnc/11397 -MONDO:0018669 "ICD10:T63.0 SCTID:61288004 Orphanet:449285 UMLS:CN237735" +MONDO:0018669 "SCTID:61288004 Orphanet:449285 UMLS:CN237735" UBERON:0016491 MONDO:0006963 "A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma." "SCTID:92337009 UMLS:C0036503 ICD9:239.2 EFO:1001172 DOID:5759 MESH:D012626 UMLS:C3805742 SCTID:126491004 NCIT:C3363" -MONDO:0002183 "A disorder involving the attachment of a tendon or ligament to a bone" "ICD9:726.90 ICD9:726.9 DOID:204 UMLS:C0242490 SCTID:23680005 MESH:D012216 ICD10:M77.9" +MONDO:0002183 "A disorder involving the attachment of a tendon or ligament to a bone" "ICD9:726.90 ICD9:726.9 DOID:204 UMLS:C0242490 SCTID:23680005 MESH:D012216" MONDO:0000574 MONDO:0001771 "ICD9:598.00 DOID:13658 SCTID:80375002 ICD9:598.01 ICD9:136.9" http://identifiers.org/hgnc/16290 GO:0031336 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids." -MONDO:0008870 "Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970." "ICD10:Q87.1 Orphanet:2617 GARD:0000895 UMLS:C1859468 MESH:C535448 OMIM:210700" +MONDO:0008870 "Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970." "Orphanet:2617 GARD:0000895 UMLS:C1859468 MESH:C535448 OMIM:210700 ICD10CM:Q87.1" GO:0032811 "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of epinephrine." -MONDO:0008047 "Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." "ICD10:G11.8 DOID:0050989 Orphanet:37612 UMLS:CN042654 UMLS:C1719788 SCTID:421182009 Orphanet:972 OMIM:160120" +MONDO:0008047 "Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." "DOID:0050989 Orphanet:37612 UMLS:CN042654 UMLS:C1719788 SCTID:421182009 Orphanet:972 OMIM:160120 ICD10CM:G11.8" http://identifiers.org/hgnc/8609 -MONDO:0000701 "Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature." "MESH:D017091 SCTID:30588004 UMLS:C0162529 DOID:0060181 ICD10:K55.9" +MONDO:0000701 "Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature." "MESH:D017091 SCTID:30588004 UMLS:C0162529 DOID:0060181" CL:0002110 "A B220-low CD38-positive naive B cell is a CD38-positive naive B cell that has the phenotype B220-low, CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, that has not yet been activated by antigen in the periphery." MONDO:0002843 "Gastritis resulting from fungi." "DOID:4034 UMLS:C0948638 NCIT:C27342 SCTID:723097009" MONDO:0010229 "A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common." "MESH:C535981 OMIM:300042 NCIT:C35790 SCTID:2965006 Orphanet:700" MONDO:0100480 "Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands." "Orphanet:85138 NCIT:C113814" -MONDO:0019170 "Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney." "ICD10:M30.0 UMLS:C0031036 Orphanet:767 ICD9:446.0 MESH:D010488 GARD:0007360 MedDRA:10036024 DOID:9810 SCTID:155441006 NCIT:C26847" +MONDO:0019170 "Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney." "UMLS:C0031036 Orphanet:767 ICD9:446.0 MESH:D010488 ICD10CM:M30.0 GARD:0007360 MedDRA:10036024 DOID:9810 SCTID:155441006 NCIT:C26847" CHEBI:48378 GO:0016672 "Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces quinone or a related compound." GO:0014053 "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of gamma-aminobutyric acid." @@ -28580,24 +28559,24 @@ CHR:9606-chr17q2 MONDO:0034121 "OMIM:618321 Orphanet:555402" MONDO:0017206 NCBITaxon:39724 "GC_ID:1" -MONDO:0001772 "ICD9:569.41 ICD10:K62.6 DOID:13662" +MONDO:0001772 "DOID:13662 ICD10CM:K62.6 ICD9:569.41" MONDO:0002383 "A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles." "NCIT:C4328 ICD9:215.9 UMLS:C0334599 SCTID:404033003 DOID:2669 ICDO:9507/0" -MONDO:0009855 "A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease." "UMLS:C1533628 NCIT:C119676 ICD10:E71.3 SCTID:238068007 ICD9:277.6 UMLS:C0342870 Orphanet:300 UMLS:CN203333 DOID:0090031 OMIM:261515 GARD:0004539" +MONDO:0009855 "A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease." "UMLS:C1533628 NCIT:C119676 SCTID:238068007 ICD9:277.6 UMLS:C0342870 ICD10CM:E71.3 Orphanet:300 UMLS:CN203333 DOID:0090031 OMIM:261515 GARD:0004539" UBERON:0003037 HP:0000458 "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell." "UMLS:C0003126 MSH:D000857 SNOMEDCT_US:44169009" -MONDO:0005915 "A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition." "ICD9:111.0 MESH:D014010 UMLS:C0040262 SCTID:56454009 NCIT:C82981 ICD10:B36.0 EFO:0007439 DOID:9060" +MONDO:0005915 "A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition." "ICD9:111.0 MESH:D014010 UMLS:C0040262 SCTID:56454009 NCIT:C82981 ICD10CM:B36.0 EFO:0007439 DOID:9060" CL:0000234 "Any cell capable of ingesting particulate matter via phagocytosis." "BTO:0001044 FMA:83806" MONDO:0018401 "UMLS:CN227347 Orphanet:399853" MONDO:0021535 "A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%." "NCIT:C95584 SCTID:254613007" -MONDO:0001898 "A disease involving the optic choroid." "ICD9:363.9 DOID:1417 ICD10:H31.9 UMLS:C0008521 NCIT:C34468 MESH:D015862 SCTID:128468007 ICD9:363.8" +MONDO:0001898 "A disease involving the optic choroid." "ICD9:363.9 DOID:1417 UMLS:C0008521 NCIT:C34468 MESH:D015862 ICD10CM:H30-H36 SCTID:128468007 ICD9:363.8" MONDO:0024711 "A mixed epithelial stromal tumor of the kidney with malignant stromal features." "NCIT:C37265 UMLS:C1334602" NCIT:C16326 "The actions or reactions of an object or organism, usually in relation to the environment or surrounding world of stimuli." UBERON:0005432 MF:0000076 "A structural capacity that shapes how an object of intentionality is represented for the subject." UBERON:0004234 MONDO:0030423 "OMIM:619493" -MONDO:0017469 "ICD10:Q68.8 Orphanet:295032" -MONDO:0014380 "Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present." "UMLS:C4014540 Orphanet:424099 OMIM:615877 ICD10:Q87.5" +MONDO:0017469 "ICD10CM:Q68.8 Orphanet:295032" +MONDO:0014380 "Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present." "UMLS:C4014540 Orphanet:424099 OMIM:615877 ICD10CM:Q87.5" ECTO:0000922 "An exposure to EC 3.5.1.4 (amidase) inhibitor." FOODON:00001107 CHEBI:48376 @@ -28609,13 +28588,13 @@ CHEBI:76729 "An oxidoreductase inhibitor which interferes with the action of an UBERON:0005699 MONDO:0017084 "Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present." "Orphanet:268838" UBERON:0009132 -MONDO:0018402 "Orphanet:399877 ICD10:N97.0" -MONDO:0018668 "Orphanet:449280 ICD10:B48.7" -MONDO:0013008 "Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." "UMLS:C2748557 Orphanet:169090 OMIM:612783 GARD:0010523 MESH:C557827 ICD10:D81.8 Orphanet:317430" +MONDO:0018402 "Orphanet:399877 ICD10CM:N97.0" +MONDO:0018668 "Orphanet:449280" +MONDO:0013008 "Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." "UMLS:C2748557 Orphanet:169090 OMIM:612783 GARD:0010523 MESH:C557827 ICD10CM:D81.8 Orphanet:317430" http://identifiers.org/hgnc/13533 http://identifiers.org/hgnc/8607 GO:0009306 "The controlled release of proteins from a cell." -MONDO:0015907 "Orphanet:1819 ICD10:Q77.8 GARD:0002176" +MONDO:0015907 "ICD10CM:Q77.8 Orphanet:1819 GARD:0002176" MONDO:0000974 "A benign adipose tissue neoplasm of the axilla." "SCTID:188993006 UMLS:C0347429 ICD9:214.8 DOID:10205 NCIT:C35419" MFOMD:0000105 "\nThe habitual voiding of urine during the day or night into one's clothes, bed, or floor. The behaviour is generally involuntary, but in rare situations it may be intentional.\n\n\n\"Understanding abnormal behavior\". David Sue, Derald Wing Sue, Stanley Sue.\n" MONDO:0001770 "DOID:13656 UMLS:C0000774 ICD9:251.5 SCTID:47344007" @@ -28626,18 +28605,18 @@ NCBITaxon:1485 "PMID:27488356 PMID:26643615 GC_ID:11" UBERON:0004235 UBERON:0016490 GO:0006142 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases." -MONDO:0017810 "A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy." "ICD10:E85.1 UMLS:CN203779 Orphanet:314652 SCTID:722292000 UMLS:C4302669" +MONDO:0017810 "A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy." "UMLS:CN203779 Orphanet:314652 SCTID:722292000 UMLS:C4302669 ICD10CM:E85.1" CHEBI:17310 "A pyridinecarbaldehyde that is pyridine-4-carbaldehyde bearing methyl, hydroxy and hydroxymethyl substituents at positions 2, 3 and 5 respectively. The 4-carboxyaldehyde form of vitamin B6, it is converted into pyridoxal phosphate, a coenzyme for the synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid." GO:0002228 "The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines." http://identifiers.org/hgnc/12335 MONDO:0018121 "An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance." "Orphanet:352456 UMLS:CN204491" GO:0015144 "Enables the transfer of carbohydrate from one side of a membrane to the other." -MONDO:0012380 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12." "OMIM:609965 DOID:0110579 ICD10:H90.3 MESH:C566495 UMLS:C1864957 GARD:0009934" -MONDO:0008722 "Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." "GARD:0004822 Orphanet:26792 ICD10:E71.3 DOID:0080154 ICD10:E71.312 NCIT:C84539 MESH:C537596 OMIM:201470" +MONDO:0012380 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12." "OMIM:609965 DOID:0110579 MESH:C566495 UMLS:C1864957 GARD:0009934" +MONDO:0008722 "Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." "GARD:0004822 Orphanet:26792 ICD10CM:E71.3 DOID:0080154 NCIT:C84539 MESH:C537596 OMIM:201470 ICD10CM:E71.312" CHR:9606-chrXq25 CHEBI:51356 "Any anion formed by loss of a proton from the carboxy group of a penicillin." NCBITaxon:75739 "GC_ID:1" -MONDO:0006830 "A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene." "UMLS:C0022782 DOID:8738 SCTID:3323003 NCIT:C3151 ICD9:607.0 ICD10:N48.0 EFO:1001015 MedDRA:10024394" +MONDO:0006830 "A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene." "UMLS:C0022782 DOID:8738 ICD10CM:N48.0 SCTID:3323003 NCIT:C3151 ICD9:607.0 EFO:1001015 MedDRA:10024394" http://identifiers.org/hgnc/9802 MONDO:0019520 "A lymphedema that is part of a larger syndrome." "UMLS:CN227645 Orphanet:89832" MONDO:0000570 @@ -28645,54 +28624,54 @@ MONDO:0002576 "An embryonal rhabdomyosarcoma that arises from the extrahepatic b http://identifiers.org/hgnc/13530 UBERON:0005434 GO:0008150 "A biological process represents a specific objective that the organism is genetically programmed to achieve. Biological processes are often described by their outcome or ending state, e.g., the biological process of cell division results in the creation of two daughter cells (a divided cell) from a single parent cell. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence." -MONDO:0018665 "ICD10:E22.0 Orphanet:448348 UMLS:CN237730" +MONDO:0018665 "ICD10CM:E22.0 Orphanet:448348 UMLS:CN237730" MONDO:0003564 "Replacement of the lung tissue by connective tissue in a specific area of the lung." "DOID:5642 NCIT:C27103 SCTID:233726000 UMLS:C0340127" MONDO:0015906 "Orphanet:181441 UMLS:CN226785" http://identifiers.org/hgnc/8604 -MONDO:0011629 "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)." "DOID:0070254 OMIM:606056 SCTID:725028009 MESH:C565264 Orphanet:79330 GARD:0010767 ICD10:E77.8 UMLS:C1853736" -MONDO:0004621 "A malignant neoplasm involving the upper lip." "ICD10:C00.0 DOID:8630 ICD9:140.3 ICD10:C00.3 ICD9:140.0" +MONDO:0011629 "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)." "DOID:0070254 OMIM:606056 SCTID:725028009 MESH:C565264 Orphanet:79330 GARD:0010767 UMLS:C1853736 ICD10CM:E77.8" +MONDO:0004621 "A malignant neoplasm involving the upper lip." "DOID:8630 ICD9:140.3 ICD9:140.0" MONDO:0001301 "Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment." "DOID:11507 MESH:D019959 SCTID:192014006 NCIT:C92567 GARD:0007594 ICD9:307.53" MONDO:0032820 "OMIM:618577" UBERON:0006635 -MONDO:0007143 "Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968." "UMLS:C1862682 Orphanet:1110 GARD:0000739 OMIM:107500 MESH:C537785 ICD10:Q87.8" +MONDO:0007143 "Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968." "UMLS:C1862682 Orphanet:1110 GARD:0000739 ICD10CM:Q87.8 OMIM:107500 MESH:C537785" MONDO:0010151 "MESH:C564762 UMLS:C1848746 OMIM:275370" UBERON:0004236 MONDO:0020367 "Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment." "ICD9:365.14 OMIM:610535 OMIM:611274 UMLS:C2981140 OMIM:231300 OMIM:608696 OMIM:608695 MedDRA:10064032 OMIM:137750 DOID:1068 Orphanet:98977 SCTID:71111008" MONDO:0021943 "A tumor-like mass resulting from the enlargement of a tuberculous lesion." "UMLS:C0041295 MESH:D014375 SCTID:15202009" FOODON:00001109 UBERON:0003038 -MONDO:0009610 "3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia." "Orphanet:67046 DOID:0110002 OMIM:250950 NCIT:C98683 ICD10:E71.1 MESH:C562801 UMLS:C0342728 SCTID:237951008 GARD:0010321 UMLS:C0342727" +MONDO:0009610 "3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia." "Orphanet:67046 DOID:0110002 OMIM:250950 NCIT:C98683 MESH:C562801 ICD10CM:E71.1 UMLS:C0342728 SCTID:237951008 GARD:0010321 UMLS:C0342727" CHR:9606-chrXq22 -MONDO:0019003 "Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC)." "GARD:0003830 UMLS:C0025268 ICD9:258.02 OMIM:171400 UMLS:CN073359 NCIT:C123329 ICD10:D44.8 OMIM:155240 UMLS:C4048306 Orphanet:653 ICD9:194.8 SCTID:61808009 OMIM:162300 MedDRA:10028191" +MONDO:0019003 "Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC)." "GARD:0003830 UMLS:C0025268 ICD9:258.02 OMIM:171400 UMLS:CN073359 NCIT:C123329 OMIM:155240 UMLS:C4048306 ICD10CM:D44.8 Orphanet:653 ICD9:194.8 SCTID:61808009 OMIM:162300 MedDRA:10028191" MONDO:0004255 "A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass." "DOID:7514 UMLS:C1520159 GARD:0008680 MESH:C536741 NCIT:C40141" MONDO:0018400 "Orphanet:399849 UMLS:CN227346" UBERON:0007832 http://identifiers.org/hgnc/13797 -MONDO:0027048 "OMIM:400047 DOID:0111758" +MONDO:0027048 "DOID:0111758 OMIM:400047" MONDO:0011930 "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene." "UMLS:C1842852 Orphanet:86814 OMIM:607876 MESH:C564313 DOID:0111692" MONDO:0012295 "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections." "NCIT:C9469 DOID:8158 Orphanet:169150 OMIM:609536 UMLS:C0343047 GARD:0006878" MONDO:0013465 "Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene." "UMLS:C1841721 Orphanet:49382 OMIM:613856 DOID:0110010 MESH:C564206" GO:0030218 "The process in which a myeloid precursor cell acquires specializes features of an erythrocyte." http://identifiers.org/hgnc/3974 MONDO:0024892 "A soft tissue neoplasm composed of acellular amyloid material." "UMLS:C1706802 DOID:6755 NCIT:C8323 UMLS:C0333572 ICD9:714.32" -MONDO:0004192 "A malignant neoplasm involving the urethra" "SCTID:363459007 ICD10:C68.0 NCIT:C7507 ONCOTREE:UCA NCIT:C9106 ICD9:189.3 DOID:734 GARD:0009390" +MONDO:0004192 "A malignant neoplasm involving the urethra" "SCTID:363459007 NCIT:C7507 ONCOTREE:UCA NCIT:C9106 ICD9:189.3 ICD10CM:C68.0 DOID:734 GARD:0009390" GO:0090325 "Any process that modulates the frequency, rate, or extent of the self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement." -MONDO:0007164 "Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene." "UMLS:C1970107 OMIM:108600 MESH:C566993 Orphanet:251282 DOID:0050772 ICD10:G11.4" +MONDO:0007164 "Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene." "UMLS:C1970107 OMIM:108600 MESH:C566993 Orphanet:251282 DOID:0050772 ICD10CM:G11.4" GO:0006936 "A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis." UBERON:0004237 -MONDO:0017468 "ICD10:Q68.8 SCTID:23876003 ICD9:755.59 Orphanet:295030" +MONDO:0017468 "SCTID:23876003 ICD10CM:Q68.8 ICD9:755.59 Orphanet:295030" MONDO:0006464 "An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis." "EFO:1000591 UMLS:C1336754 NCIT:C7601" -MONDO:0009111 "Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." "Orphanet:38874 DOID:0111629 ICD9:277.2 ICD10:E79.8 OMIM:222748 GARD:0012347 SCTID:238014002" +MONDO:0009111 "Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." "Orphanet:38874 DOID:0111629 ICD9:277.2 OMIM:222748 GARD:0012347 ICD10CM:E79.8 SCTID:238014002" MONDO:0006285 "A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." "NCIT:C5975 EFO:1000345 UMLS:C1334550" -MONDO:0002043 "The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)" "ICD9:374.10 UMLS:C0013592 ICD10:H02.10 ICD9:374.1 MESH:D004483 ICD10:H02.109 SCTID:62909004 DOID:1570 HP:0000656 ICD10:H02.1" +MONDO:0002043 "The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)" "ICD9:374.10 UMLS:C0013592 ICD9:374.1 MESH:D004483 DOID:1570 SCTID:62909004 HP:0000656" UBERON:0001519 -MONDO:0012521 "Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness." "Orphanet:1930 OMIM:610551 ICD10:G05.1* NCIT:C84762 OMIM:614850 ICD10:B00.4+ MESH:D020803 OMIM:613002 OMIM:616532 OMIM:614849 GARD:0006649" +MONDO:0012521 "Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness." "Orphanet:1930 OMIM:610551 NCIT:C84762 ICD10EXP:G05.1* OMIM:614850 ICD10EXP:B00.4+ MESH:D020803 OMIM:613002 OMIM:616532 OMIM:614849 GARD:0006649" UBERON:0003914 CHEBI:33861 -MONDO:0019915 "Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum)." "Orphanet:96184 ICD10:Q99.8" +MONDO:0019915 "Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum)." "Orphanet:96184 ICD10CM:Q99.8" GO:0006310 "Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction." MONDO:0032862 "OMIM:618667" -MONDO:0001745 "DOID:13560 ICD10:D25.2 UMLS:C0153995 SCTID:95280005 ICD9:218.2" +MONDO:0001745 "DOID:13560 UMLS:C0153995 SCTID:95280005 ICD9:218.2" MONDO:0100378 "Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)" "NCIT:C168758" HP:0010950 "An abnormality of the fourth ventricle." "UMLS:C4023630" CHEBI:72813 "A biomacromolecule composed of carbohydrate residues which is secreted by a microorganism into the surrounding environment." @@ -28700,9 +28679,9 @@ MONDO:0044998 "A disease or disorder that involves the carpal region." "SCTID:12 UBERON:0001518 HP:0002011 "A structural abnormality of the central nervous system." "SNOMEDCT_US:23853001 UMLS:C0007682 MSH:D002493 UMLS:C4021765" UBERON:0003915 -MONDO:0014165 "Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase." "ICD10:Q87.8 UMLS:C3809356 Orphanet:369837 OMIM:615398 DOID:0080140" +MONDO:0014165 "Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase." "ICD10CM:Q87.8 UMLS:C3809356 Orphanet:369837 OMIM:615398 DOID:0080140" UBERON:0005477 -MONDO:0008812 "AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait." "Orphanet:1133 MESH:C537427 OMIM:207780 UMLS:C0342280 SCTID:237610008 ICD10:Q87.8 ICD9:753.3 GARD:0008509" +MONDO:0008812 "AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait." "Orphanet:1133 MESH:C537427 ICD10CM:Q87.8 OMIM:207780 UMLS:C0342280 SCTID:237610008 ICD9:753.3 GARD:0008509" MONDO:0001747 "ICD9:726.62 DOID:13566 SCTID:44245003 UMLS:C0158315" UBERON:0005211 NCBITaxon:8782 "GC_ID:1" @@ -28710,20 +28689,20 @@ MONDO:0021301 "A adenoma that involves the nipple." "NCIT:C4192 UMLS:C0334378 SC MONDO:0000547 NCBITaxon:156300 "GC_ID:1" http://identifiers.org/hgnc/619 -MONDO:0024312 "ICD10:C40.1" +MONDO:0024312 "ICD10CM:C40.1" HP:0011015 "An abnormality of the concentration of glucose in the blood." "UMLS:C4023597" MONDO:0014880 "Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion." "GARD:0010691 Orphanet:233 OMIM:126800 OMIM:617041 UMLS:C4310752" ECTO:9000021 "An exposure to alkali metal salt." -MONDO:0011788 "This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." "ICD10:Q87.8 Orphanet:93267 UMLS:C1846671 SCTID:717771007 OMIM:607161 MESH:C564611" +MONDO:0011788 "This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies." "Orphanet:93267 UMLS:C1846671 SCTID:717771007 ICD10CM:Q87.8 OMIM:607161 MESH:C564611" CHEBI:36132 "A cyclic ketone in which the carbocyclic ring structure which may be saturated or unsaturated, but may not be a benzenoid or other aromatic system." NCBITaxon:2732515 "GC_ID:1" HP:0011387 "Increased size of the vestibular aqueduct." "UMLS:C1863752 MSH:C566366" GO:0006968 "A defense response that is mediated by cells." UBERON:0003916 -MONDO:0007152 "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene." "OMIM:107970 DOID:0110070 UMLS:C1862511 Orphanet:217656 ICD10:I42.8 Orphanet:3403 ICD10:Q24.8" +MONDO:0007152 "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene." "OMIM:107970 DOID:0110070 UMLS:C1862511 Orphanet:217656 Orphanet:3403" UBERON:0005478 MONDO:0700122 "Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene." -MONDO:0009107 "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." "MESH:C536170 ICD10:Q77.5 OMIM:222600 SCTID:58561002 Orphanet:628 GARD:0006275 DOID:14687 ICD9:756.89" +MONDO:0009107 "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." "MESH:C536170 OMIM:222600 SCTID:58561002 Orphanet:628 GARD:0006275 DOID:14687 ICD10CM:Q77.5 ICD9:756.89" MONDO:0000546 UBERON:0005212 NCBITaxon:115425 "GC_ID:1" @@ -28736,23 +28715,23 @@ MONDO:0032864 "OMIM:618672" MONDO:0030465 "OMIM:619593" MONDO:0002362 "A non-invasive papillary serous epithelial neoplasm usually arising from the ovary." "DOID:2614 NCIT:C4181 ICDO:8461/0 UMLS:C0334360" UBERON:0004014 -MONDO:0009294 "Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease." "Orphanet:369 UMLS:C0017925 OMIM:232700 DOID:2754 ICD10:E74.0 SCTID:29291001 NCIT:C126875 GARD:0006529 ICD10:E74.09 MedDRA:10053240 MESH:D006013" +MONDO:0009294 "Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease." "Orphanet:369 UMLS:C0017925 OMIM:232700 DOID:2754 ICD10CM:E74.0 SCTID:29291001 NCIT:C126875 GARD:0006529 MedDRA:10053240 MESH:D006013" MONDO:0002546 "A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported." "ONCOTREE:SCHW MedDRA:10029235 ICDO:9560/0 ICD9:215.9 DOID:3192 DOID:955 UMLS:CN202001 GARD:0004767 EFO:0000693 NCIT:C3269 MedDRA:10029234 Orphanet:252164 SCTID:404022001 UMLS:C0027809" -MONDO:0018595 "Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common." "Orphanet:439755 UMLS:CN242112 ICD10:M30.0" +MONDO:0018595 "Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common." "ICD10CM:M30.0 Orphanet:439755 UMLS:CN242112" UBERON:0006671 MONDO:0011175 "Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11" "UMLS:C1865981 MESH:C566594 Orphanet:95 OMIM:601992 DOID:0111219" GO:0019216 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids." -MONDO:0017609 "Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner." "OMIM:267430 GARD:0000379 Orphanet:3033 ICD10:Q63.8 SCTID:702397002" +MONDO:0017609 "Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner." "OMIM:267430 GARD:0000379 Orphanet:3033 ICD10CM:Q63.8 SCTID:702397002" GO:0014020 "The formation of the neural tube from an epithelial cell sheet (the neuroepithelium or neural plate). In primary neurulation, the cells surrounding the neural plate direct the neural plate cells to proliferate, invaginate, and pinch off from the surface to form a hollow epithelial tube. Primary neurulation is the typical mechanism of formation of the anterior neural tube." CHEBI:35695 "Any dicarboxylic acid anion that is a monoanion obtained by the deprotonation of only one of the carboxy groups of the dicarboxylic acid." HP:0100957 "Any structural abnormality of the medulla of the kidney." "UMLS:C4021911" -MONDO:0013439 "Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease." "OMIM:613812 DOID:0111070 Orphanet:79302 SCTID:719454003 UMLS:C3151147 ICD10:K76.8 MESH:C566340 UMLS:C4304715" +MONDO:0013439 "Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease." "OMIM:613812 ICD10CM:K76.8 DOID:0111070 Orphanet:79302 SCTID:719454003 UMLS:C3151147 MESH:C566340 UMLS:C4304715" UBERON:0005213 MONDO:0003933 "An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor." "NCIT:C6724 DOID:6579 UMLS:C1334572" MONDO:0005595 "A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." "SCTID:405822008 OMIM:275355 NCIT:C4044 ONCOTREE:LXSC DOID:2876 EFO:0006352 UMLS:C0280324 Orphanet:494550" MONDO:0045033 "A mycosis that arises from infection in an immunologically compromised host and is systemic." MONDO:0005426 "An infarct detected by MRI and not determined to be clinically significant" "EFO:0004715" -MONDO:0007308 "Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." "SCTID:717016001 NCIT:C134952 DOID:0110154 ICD10:G60.0 Orphanet:99946 GARD:0001248 OMIM:118210 MESH:C566138" +MONDO:0007308 "Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." "SCTID:717016001 NCIT:C134952 DOID:0110154 ICD10CM:G60.0 Orphanet:99946 GARD:0001248 OMIM:118210 MESH:C566138" GO:0060090 "The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way." UBERON:0004015 MONDO:0002942 "DOID:4286" @@ -28761,49 +28740,49 @@ MONDO:0032863 "OMIM:618670" UBERON:0006670 MONDO:0012266 "Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene." "MESH:C563724 UMLS:C1836255 Orphanet:275555 OMIM:609404" CL:0009022 "A stromal cell found in the lamina propria of the small intestine." -MONDO:0009338 "Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease." "UMLS:C1856128 ICD10:K76.5 GARD:0010083 SCTID:724361001 MESH:C537257 OMIM:235550 Orphanet:79124" -MONDO:0006391 "A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." "NCIT:C43526 EFO:1000501 UMLS:C1709780" +MONDO:0009338 "Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease." "UMLS:C1856128 GARD:0010083 SCTID:724361001 ICD10CM:K76.5 MESH:C537257 OMIM:235550 Orphanet:79124" +MONDO:0006391 "A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." "EFO:1000501 UMLS:C1709780 NCIT:C43526" UBERON:0001515 HP:0007556 "Hyperkeratosis affecting the sole of the foot." "UMLS:C1856954" GO:1905276 "Any process that modulates the frequency, rate or extent of epithelial tube formation." GO:0086019 "Any process that mediates the transfer of information from one cell to another and contributes to the heart process that regulates cardiac muscle contraction; beginning with the generation of an action potential in the sinoatrial node and ending with regulation of contraction of the myocardium." -MONDO:0004665 "A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)" "NCIT:C3518 ICD9:201.5 ONCOTREE:NSCHL ICD10:C81.1 DOID:8838 SCTID:118608000 ICDO:9663/3 EFO:0004708" +MONDO:0004665 "A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)" "NCIT:C3518 ICD9:201.5 ONCOTREE:NSCHL DOID:8838 ICDO:9663/3 EFO:0004708 SCTID:118608000" http://identifiers.org/hgnc/11153 http://identifiers.org/hgnc/29478 UBERON:0003077 UBERON:0005472 CHEBI:36699 "Any of a class of steroid hormones that are produced in the adrenal cortex." -MONDO:0015253 "A congenital aregenerative and often macrocytic anemia with erythroblastopenia." "OMIM:612561 GARD:0006274 MedDRA:10062989 OMIMPS:105650 OMIM:300946 OMIM:612527 OMIM:613309 ICD10:D61.01 OMIM:606129 SCTID:88854002 OMIM:105650 Orphanet:124 OMIM:612563 UMLS:C0265265 OMIM:606164 OMIM:610629 OMIM:613308 OMIM:614900 ICD10:D61.0 OMIM:612528 DOID:1339 MESH:D029503 NCIT:C61236 OMIM:612562 UMLS:C1260899 OMIM:615550 OMIM:615909" +MONDO:0015253 "A congenital aregenerative and often macrocytic anemia with erythroblastopenia." "OMIM:612561 GARD:0006274 MedDRA:10062989 OMIMPS:105650 OMIM:300946 OMIM:612527 OMIM:613309 OMIM:606129 SCTID:88854002 OMIM:105650 Orphanet:124 OMIM:612563 UMLS:C0265265 OMIM:606164 OMIM:610629 OMIM:613308 ICD10CM:D61.0 OMIM:614900 OMIM:612528 DOID:1339 MESH:D029503 NCIT:C61236 OMIM:612562 UMLS:C1260899 OMIM:615550 OMIM:615909" MONDO:0030463 "OMIM:619585" UBERON:0006677 UBERON:0004274 MONDO:0003551 "A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components." "NCIT:C6458 DOID:5626 UMLS:C1332171" MONDO:0020617 "OMIM:111380" -MONDO:0009131 "A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system." "DOID:11589 MESH:D004402 Orphanet:1764 SCTID:29159009 ICD10:G90.1 NCIT:C84706 OMIM:223900 GARD:0007581 MedDRA:10039179 UMLS:C0013364" -MONDO:0013049 "DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy." "SCTID:725044000 OMIM:612937 ICD10:E77.8 MESH:C567857 GARD:0012395 UMLS:C2752007 Orphanet:263494" +MONDO:0009131 "A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system." "DOID:11589 MESH:D004402 Orphanet:1764 SCTID:29159009 NCIT:C84706 OMIM:223900 GARD:0007581 MedDRA:10039179 UMLS:C0013364" +MONDO:0013049 "DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy." "SCTID:725044000 OMIM:612937 ICD10CM:E77.8 MESH:C567857 GARD:0012395 UMLS:C2752007 Orphanet:263494" MONDO:0044876 "A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs." "NCIT:C112208" -MONDO:0019531 "Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes." "ICD10:D55.1 OMIM:618660 Orphanet:90030" +MONDO:0019531 "Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes." "ICD10CM:D55.1 OMIM:618660 Orphanet:90030" CHEBI:37397 "Any of a class of 10--60 kDa glycosaminoglycan sulfates, widely distributed in cartilage and other mammalian connective tissues." -MONDO:0019118 "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome." "ICD9:362.70 UMLS:C0154860 SCTID:41799005 Orphanet:71862 NCIT:C35194 UMLS:C0854723 ICD9:362.7 MESH:D058499 ICD10:H35.50 DOID:8500 NCIT:C35625 SCTID:314407005 ICD10:H35.5 MedDRA:10038857 DOID:8501 HP:0000556 ICD9:362.75 ICD9:362.72" -MONDO:0014295 "An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function." "ICD10:G11.4 UMLS:C4510084 EFO:0009017 SCTID:723826007 UMLS:C3714897 DOID:0110809 OMIM:615658 Orphanet:431329" +MONDO:0019118 "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome." "ICD9:362.70 UMLS:C0154860 SCTID:41799005 Orphanet:71862 NCIT:C35194 UMLS:C0854723 ICD9:362.7 MESH:D058499 DOID:8500 NCIT:C35625 SCTID:314407005 ICD10CM:H35.5 MedDRA:10038857 DOID:8501 HP:0000556 ICD9:362.75 ICD9:362.72" +MONDO:0014295 "An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function." "UMLS:C4510084 EFO:0009017 SCTID:723826007 UMLS:C3714897 DOID:0110809 OMIM:615658 ICD10CM:G11.4 Orphanet:431329" GO:0099177 "Any process that modulates the frequency, rate or extent of trans-synaptic signaling." MONDO:0002736 "A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation." "DOID:3693 NCIT:C27416 UMLS:C1332248" http://identifiers.org/hgnc/24316 -MONDO:0016049 "Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development." "ICD10:G71.2 Orphanet:199329" +MONDO:0016049 "Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development." "ICD10CM:G71.2 Orphanet:199329" UBERON:0001514 UBERON:0005473 HP:0004303 "Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers." "UMLS:C4021663" GO:0007565 "The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth." -MONDO:0019887 "Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported." "Orphanet:96106 ICD10:Q92.3 SCTID:764459008" +MONDO:0019887 "Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported." "Orphanet:96106 SCTID:764459008" UBERON:0003076 CL:0008028 -MONDO:0017222 "The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." "ICD10:E75.2 Orphanet:280219 SCTID:87607002" +MONDO:0017222 "The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." "Orphanet:280219 SCTID:87607002 ICD10CM:E75.2" UBERON:0004275 UBERON:0003910 MONDO:0020618 "OMIM:111500" UBERON:0001513 MONDO:0005171 "OBSOLETE. Chronic form of myeloproliferative neoplasm." -MONDO:0001742 "ICD9:365.21 ICD10:H40.23 SCTID:65460003 UMLS:C0154945 DOID:13549" +MONDO:0001742 "ICD9:365.21 SCTID:65460003 UMLS:C0154945 DOID:13549" MONDO:0004270 "A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor." "NCIT:C40384 UMLS:C1511307 DOID:7538" http://identifiers.org/hgnc/25519 UBERON:0001517 @@ -28816,37 +28795,37 @@ http://identifiers.org/hgnc/613 GO:0071827 "A protein-lipid complex subunit organization process that results in the formation, disassembly, or alteration of a plasma lipoprotein particle. A plasma lipoprotein particle is a spherical particle with a hydrophobic core of triglycerides and/or cholesterol esters, surrounded by an amphipathic monolayer of phospholipids, cholesterol and apolipoproteins." UBERON:0000316 CHR:9606-chr1p21 -MONDO:0012418 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23." "MESH:C565719 DOID:0110514 UMLS:C1857820 ICD10:H90.3 OMIM:610143" +MONDO:0012418 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23." "MESH:C565719 UMLS:C1857820 DOID:0110514 OMIM:610143" UBERON:0003911 UBERON:0006675 UBERON:0004276 MONDO:0020619 "OMIM:111600" HP:0010885 "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." "UMLS:C0085660 UMLS:C0520474 SNOMEDCT_US:398199007 SNOMEDCT_US:240196003 UMLS:C0877326 SNOMEDCT_US:72756009 MSH:D010020 UMLS:C0029445" CL:0000118 "Basket cells are inhibitory GABAergic interneurons of the brain. In general, dendrites of basket cells are free branching and contain smooth spines. Axons are highly branched. The branched axonal arborizations give rise to basket-like structures that surround the soma of the target cell. Basket cells form axo-somatic synapses, meaning their synapses target somas of other cells." -MONDO:0006763 "Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." "ICD9:726.0 UMLS:C0311223 EFO:1000941 DOID:14188 ICD10:M75.0 MedDRA:10017391 SCTID:399114005" +MONDO:0006763 "Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." "ICD9:726.0 UMLS:C0311223 EFO:1000941 DOID:14188 MedDRA:10017391 ICD10CM:M75.0 SCTID:399114005" NCBITaxon:2732514 "GC_ID:1" MONDO:0002122 "A neuropathy arising from inflammation of one or more nerves." "SCTID:128192007 ICD9:729.2 MESH:D009443 UMLS:C0027813 NCIT:C116381 DOID:1803 SCTID:84299009" UBERON:0003913 UBERON:0001516 -MONDO:0012635 "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products." "OMIM:611182 MESH:C566987 GARD:0012411 Orphanet:95428 DOID:0070260 UMLS:C1970021 ICD10:E77.8 SCTID:717774004" -MONDO:0009469 "Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity." "UMLS:C0268312 Orphanet:99960 ICD10:K83.1 DOID:0070231 Orphanet:65682 GARD:0010028 OMIM:243300" -MONDO:0018957 "Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction." "ICD10:M79.2 SCTID:427972000 MESH:D060545 Orphanet:60039 UMLS:CN226268 GARD:0010713 UMLS:C1997249 UMLS:C3178970 ICD9:729.2" +MONDO:0012635 "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products." "OMIM:611182 ICD10CM:E77.8 MESH:C566987 GARD:0012411 Orphanet:95428 DOID:0070260 UMLS:C1970021 SCTID:717774004" +MONDO:0009469 "Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity." "UMLS:C0268312 Orphanet:99960 ICD10CM:K83.1 DOID:0070231 Orphanet:65682 GARD:0010028 OMIM:243300" +MONDO:0018957 "Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction." "SCTID:427972000 MESH:D060545 Orphanet:60039 UMLS:CN226268 GARD:0010713 UMLS:C1997249 UMLS:C3178970 ICD9:729.2 ICD10CM:M79.2" GO:0005587 "A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form 3 dimensional nets within basement membranes." UBERON:0005475 UBERON:0003078 -MONDO:0004668 "A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction." "UMLS:C1331532 SCTID:82308007 GARD:0006428 UMLS:C0015652 ICD9:121.3 DOID:885 NCIT:C128387 EFO:1001324 ICD10:B66.3 MESH:D005211" +MONDO:0004668 "A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction." "ICD10CM:B66.3 UMLS:C1331532 SCTID:82308007 GARD:0006428 UMLS:C0015652 ICD9:121.3 DOID:885 NCIT:C128387 EFO:1001324 MESH:D005211" MONDO:0000368 "A tuberculosis that occurs at body sites other than the lung." "DOID:0050598 UMLS:C0679362 SCTID:423997002" MONDO:0030462 "OMIM:619582" UBERON:0000317 MONDO:0020806 "A heart block that is initiated in the sinoatrial node." "SCTID:65778007" -MONDO:0018946 "Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres." "SCTID:442300000 UMLS:C1866130 ICD9:742.4 Orphanet:59315 ICD10:Q04.3" +MONDO:0018946 "Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres." "SCTID:442300000 UMLS:C1866130 ICD9:742.4 Orphanet:59315 ICD10CM:Q04.3" UBERON:0004277 NCBITaxon:7586 "GC_ID:1" -MONDO:0017493 "Orphanet:295083 ICD10:Q72.6" +MONDO:0017493 "ICD10CM:Q72.6 Orphanet:295083" NCIT:C36862 -MONDO:0019452 "This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms." "UMLS:C1333046 OMIM:131440 NCIT:C27350 ICDO:9975/3 ICD10:D47.1 Orphanet:86830" +MONDO:0019452 "This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms." "UMLS:C1333046 OMIM:131440 ICD10CM:D47.1 NCIT:C27350 ICDO:9975/3 Orphanet:86830" MONDO:0700060 "X-linked form of acute leukemia" "OMIM:308960" -MONDO:0001410 "Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause." "SCTID:52441000 UMLS:C0156409 UMLS:C0221392 ICD10:N95.2 DOID:11968 EFO:1001271 MESH:D059268 ICD9:627.3" +MONDO:0001410 "Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause." "ICD10CM:N95.2 SCTID:52441000 UMLS:C0156409 UMLS:C0221392 DOID:11968 EFO:1001271 MESH:D059268 ICD9:627.3" MONDO:0007840 "UMLS:C1840073 MESH:C564125 OMIM:147820" CL:1000222 UBERON:0003073 @@ -28856,12 +28835,12 @@ MONDO:0011589 "Orphanet:98938 MESH:C565300 UMLS:C1854018 OMIM:605738" MONDO:0011323 "MESH:C537429 OMIM:603457 Orphanet:1135 Orphanet:2250 SCTID:720511000" FOODON:03420144 GO:0043932 "The formation or growth of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in response to injury or other physical, physiological or environmental stress stimuli." -MONDO:0015324 "Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies." "GARD:0000192 MESH:C537009 SCTID:715989002 ICD10:Q87.8 Orphanet:1381 UMLS:C2931391" +MONDO:0015324 "Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies." "GARD:0000192 MESH:C537009 SCTID:715989002 Orphanet:1381 UMLS:C2931391 ICD10CM:Q87.8" http://identifiers.org/hgnc/877 MONDO:0015931 "Orphanet:182114 UMLS:CN200523" -MONDO:0017410 "Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly." "Orphanet:2940 MESH:D065708 ICD10:Q04.6 DOID:0060263 MedDRA:10036172 HP:0002132 OMIM:175780 GARD:0007430" +MONDO:0017410 "Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly." "Orphanet:2940 MESH:D065708 DOID:0060263 MedDRA:10036172 HP:0002132 OMIM:175780 ICD10CM:Q04.6 GARD:0007430" GO:0050886 "The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system." -MONDO:0016282 "A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix." "UMLS:CN201072 ICD10:C53.8 UMLS:C4289809 ICD10:C53.1 ONCOTREE:CERMS Orphanet:213802 SCTID:763408003 ICD10:C53.0 NCIT:C128048" +MONDO:0016282 "A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix." "UMLS:CN201072 UMLS:C4289809 ONCOTREE:CERMS Orphanet:213802 ICD10CM:C53.8 ICD10CM:C53.1 ICD10CM:C53.0 SCTID:763408003 NCIT:C128048" UBERON:0001510 http://identifiers.org/hgnc/25774 UBERON:0001776 @@ -28872,36 +28851,36 @@ MONDO:0002249 "A disease characterized by higher than normal platelet counts in MONDO:0015098 GO:1903509 "The chemical reactions and pathways involving liposaccharide." GO:0030234 "Binds to and modulates the activity of an enzyme." -MONDO:0014666 "Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene." "ICD10:G11.1 OMIM:616494 DOID:0060792 Orphanet:88637 UMLS:C4225305" +MONDO:0014666 "Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene." "OMIM:616494 DOID:0060792 Orphanet:88637 UMLS:C4225305" MONDO:0000062 "A microphthalmia that is not part of a larger syndrome." "OMIMPS:251600 DOID:0080637" GO:0050995 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids." MONDO:0005444 -MONDO:0022173 "MESH:C538297" +MONDO:0022173 "MESH:C538297 Orphanet:262923 GARD:0001923" CL:1000223 UBERON:0003072 UBERON:0000314 MONDO:0014084 "DOID:0060557 OMIM:615217 GARD:0013112 UMLS:C3554690" MONDO:0011322 "MESH:C566374 UMLS:C1863879 OMIM:603446" MONDO:0015930 "Orphanet:182111" -MONDO:0001162 "A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others." "ICD9:312.39 ICD9:312.30 ICD10:F63.9 NCIT:C34723 DOID:10937 SCTID:66347000" +MONDO:0001162 "A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others." "ICD9:312.39 ICD9:312.30 NCIT:C34723 DOID:10937 SCTID:66347000" UBERON:0000315 http://identifiers.org/hgnc/610 -MONDO:0010578 "Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." "SCTID:702423009 GARD:0008331 MESH:C535808 ICD10:G31.8 ICD9:759.89 DOID:0050757 UMLS:C0796074 OMIM:304700 Orphanet:52368" +MONDO:0010578 "Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." "SCTID:702423009 GARD:0008331 MESH:C535808 ICD9:759.89 ICD10CM:G31.8 DOID:0050757 UMLS:C0796074 OMIM:304700 Orphanet:52368" MONDO:0017331 "Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975." "MESH:C537400 UMLS:C2931484 Orphanet:2894 GARD:0004368" MONDO:0010124 "OMIM:274200" MONDO:0004246 MONDO:0019787 "Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss." "SCTID:235728001 ICD9:279.49 Orphanet:94075 MESH:C538273 NCIT:C94694 UMLS:C0341305 GARD:0008689" UBERON:0001775 -MONDO:0013225 "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene." "UMLS:C2750069 OMIM:613327 ICD10:E88.1 GARD:0010937 DOID:0111138 Orphanet:228429 MESH:C567642" +MONDO:0013225 "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene." "UMLS:C2750069 OMIM:613327 GARD:0010937 DOID:0111138 Orphanet:228429 ICD10CM:E88.1 MESH:C567642" MONDO:0014998 "UMLS:C4310639 OMIM:617272" -MONDO:0015097 "ICD9:746.89 ICD10:Q23.0 SCTID:253604004 Orphanet:101043" -MONDO:0005406 "Carbohydrate intolerance first diagnosed during pregnancy." "SCTID:11687002 NCIT:C34942 DOID:11714 UMLS:C0085207 MESH:D016640 ICD10:O24.4 EFO:0004593" +MONDO:0015097 "ICD9:746.89 ICD10CM:Q23.0 SCTID:253604004 Orphanet:101043" +MONDO:0005406 "Carbohydrate intolerance first diagnosed during pregnancy." "SCTID:11687002 NCIT:C34942 DOID:11714 UMLS:C0085207 MESH:D016640 EFO:0004593" UBERON:0004271 MONDO:0020614 "OMIM:111200" -MONDO:0018692 "ICD10:A81.8 SCTID:721165001 Orphanet:454742 UMLS:C4303527" -MONDO:0017494 "ICD10:Q71.1 Orphanet:295085" -MONDO:0019222 "An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process." "ICD9:270.4 Orphanet:79173 ICD10:E72.1 SCTID:28882002 UMLS:CN227589" -MONDO:0017491 "Orphanet:295079 ICD10:Q72.5 UMLS:CN203229" +MONDO:0018692 "SCTID:721165001 Orphanet:454742 ICD10CM:A81.8 UMLS:C4303527" +MONDO:0017494 "ICD10CM:Q71.1 Orphanet:295085" +MONDO:0019222 "An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process." "ICD9:270.4 ICD10CM:E72.1 Orphanet:79173 SCTID:28882002 UMLS:CN227589" +MONDO:0017491 "Orphanet:295079 ICD10CM:Q72.5 UMLS:CN203229" http://identifiers.org/hgnc/26970 NCBITaxon:9989 "GC_ID:1" GO:0072527 "The chemical reactions and pathways involving a pyrimidine-containing compound, i.e. any compound that contains pyrimidine or a formal derivative thereof." @@ -28917,26 +28896,26 @@ GO:0072175 "The developmental process pertaining to the initial formation of an MONDO:0012788 "OMIM:612030" UBERON:0001512 MONDO:0017213 "A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS." "Orphanet:279947 UMLS:CN202682 GARD:0010809" -MONDO:0009068 "A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis." "NCIT:C98910 Orphanet:254905 OMIM:220110 ICD10:E88.8 MESH:D030401 DOID:3762 UMLS:C0268237 SCTID:67434000 GARD:0000048" +MONDO:0009068 "A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis." "Orphanet:254905 NCIT:C98910 SCTID:67434000 OMIM:220110 UMLS:C0268237 MESH:D030401 ICD10CM:E88.8 DOID:3762 GARD:0000048" MONDO:0020615 "OMIM:111250" -MONDO:0017492 "Orphanet:295081 ICD10:Q72.6" -MONDO:0010467 "Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." "Orphanet:261483 OMIM:300869 UMLS:C3275521 ICD10:Q99.8" -MONDO:0015095 "UMLS:C2931652 Orphanet:101033 ICD10:Q13.3 MESH:C537885" -MONDO:0021394 "A polyp that involves the vagina." "ICD10:N84.2 UMLS:C0156390 SCTID:29609001 ICD9:623.7 NCIT:C3664" -MONDO:0016811 "Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders." "OMIM:124000 UMLS:CN202065 Orphanet:254902 ICD10:E88.8" +MONDO:0017492 "ICD10CM:Q72.6 Orphanet:295081" +MONDO:0010467 "Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism." "ICD10CM:Q99.8 Orphanet:261483 OMIM:300869 UMLS:C3275521" +MONDO:0015095 "UMLS:C2931652 ICD10CM:Q13.3 Orphanet:101033 MESH:C537885" +MONDO:0021394 "A polyp that involves the vagina." "UMLS:C0156390 SCTID:29609001 ICD9:623.7 ICD10CM:N84.2 NCIT:C3664" +MONDO:0016811 "Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders." "OMIM:124000 UMLS:CN202065 ICD10CM:E88.8 Orphanet:254902" UBERON:0001778 MONDO:0007843 "Orphanet:2322 UMLS:C0796004 UMLS:CN030661 OMIM:147920" CL:0000359 "A smooth muscle cell assocatiated with the vasculature." CL:0000025 "A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization." "BTO:0003801 FBbt:00057012 CALOHA:TS-2191 FMA:67343 MA:0000388 BTO:0000369" -MONDO:0011555 "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15)." "ICD10:Q87.2 MESH:C565328 OMIM:616738 SCTID:721882001 Orphanet:71289 OMIMPS:605432 OMIM:605432" +MONDO:0011555 "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15)." "MESH:C565328 OMIM:616738 ICD10CM:Q87.2 SCTID:721882001 Orphanet:71289 OMIMPS:605432 OMIM:605432" NCBITaxon:91493 "GC_ID:1" -MONDO:0014054 "Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene." "DOID:0060708 OMIM:615122 UMLS:C3554540 Orphanet:238505 ICD10:D47.9" +MONDO:0014054 "Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene." "DOID:0060708 OMIM:615122 UMLS:C3554540 Orphanet:238505" MONDO:0011324 FOODON:03315173 "A fish product is a home-made or commercially produced or retail or wholesale product containing substantial amounts of freshwater or saltwater fish and/or shellfish flesh. Note that this category should avoid items that mention a particular species of fish or shellfish."@en "SUBSET_SIREN:F15173" UBERON:0003074 -MONDO:0100294 "Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers." "GARD:0005053 Orphanet:3208 ICD10:G71.3 ICD9:277.6 SCTID:124165006 OMIM:252011 MESH:C565375 DOID:0060537" +MONDO:0100294 "Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers." "GARD:0005053 Orphanet:3208 ICD10CM:G71.3 ICD9:277.6 SCTID:124165006 OMIM:252011 MESH:C565375 DOID:0060537" GO:0014052 "Any process that modulates the frequency, rate or extent of the regulated release of gamma-aminobutyric acid." -MONDO:0016293 "OMIM:257270 SCTID:193687000 Orphanet:215 ICD9:368.61 OMIM:163500 SCTID:232061009 ICD10:H53.63 ICD10:H53.6 OMIM:614565 DOID:0050534 OMIM:310500 OMIM:610444 OMIM:613830 OMIM:613216 OMIM:616389 OMIMPS:310500 OMIM:615058 OMIM:610445 OMIM:610427 OMIM:300071 MESH:C537743 MESH:C536122" +MONDO:0016293 "OMIM:257270 SCTID:193687000 Orphanet:215 ICD9:368.61 OMIM:163500 SCTID:232061009 OMIM:614565 DOID:0050534 OMIM:310500 OMIM:610444 ICD10CM:H53.6 OMIM:613830 OMIM:613216 OMIM:616389 OMIMPS:310500 OMIM:615058 OMIM:610445 OMIM:610427 OMIM:300071 MESH:C537743 MESH:C536122" GO:0044238 "The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism." CHEBI:5386 GO:1900451 "Any process that activates or increases the frequency, rate or extent of glutamate receptor signaling pathway." @@ -28950,46 +28929,46 @@ MONDO:0010126 "OMIM:274210 MESH:C564768 UMLS:C1848815" MONDO:0014269 "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene." "Orphanet:397593 UMLS:C3810055 OMIM:615595 DOID:0111476" UBERON:0004273 http://identifiers.org/hgnc/6243 -MONDO:0015094 "ICD10:Q04.8 MedDRA:10071150 UMLS:C3160906 Orphanet:101030 SCTID:699812002 ICD9:742.4 GARD:0005050" +MONDO:0015094 "MedDRA:10071150 UMLS:C3160906 Orphanet:101030 SCTID:699812002 ICD10CM:Q04.8 ICD9:742.4 GARD:0005050" NCBITaxon:1224679 "GC_ID:1" UBERON:0035553 CHEBI:25248 "Any carboxylic ester resulting from the formal condensation of a carboxy group with methanol." -MONDO:0007885 "A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible." "NCIT:C34766 ICD10:M91.1 GARD:0006874 MESH:D007873 ICD10:M91.3 UMLS:C0023234 EFO:0007341 DOID:14415 OMIM:150600 ICD10:M91.2 MedDRA:10034735 Orphanet:2380 SCTID:15739006" +MONDO:0007885 "A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible." "NCIT:C34766 GARD:0006874 MESH:D007873 UMLS:C0023234 EFO:0007341 DOID:14415 OMIM:150600 MedDRA:10034735 Orphanet:2380 SCTID:15739006" MONDO:0003687 "A malignant neoplasm involving the endocardium." "UMLS:C0346612 NCIT:C4570 SCTID:363436001 DOID:5877 SCTID:126731002 UMLS:C1290401 NCIT:C5346" MONDO:0022178 "UMLS:CN037259 MESH:C535486" MONDO:0013988 "OMIM:614954 UMLS:C3554194" MF:0000074 "A bodily quality is a quality that inheres in some extended organism." -MONDO:0016292 "Orphanet:2149 GARD:0002661 OMIM:617201 SCTID:253151003 OMIM:615544 OMIM:612881 OMIM:608097 OMIM:300049 ICD10:Q04.8 OMIM:608098" +MONDO:0016292 "Orphanet:2149 ICD10CM:Q04.8 GARD:0002661 OMIM:617201 SCTID:253151003 OMIM:615544 OMIM:612881 OMIM:608097 OMIM:300049 OMIM:608098" MONDO:0011328 MONDO:0016510 "Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." "Orphanet:231742 UMLS:CN226948" -MONDO:0009676 "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed." "SCTID:718179003 NCIT:C142080 DOID:0110276 MESH:C535899 Orphanet:268 GARD:0008574 ICD10:G71.0 OMIM:253601" +MONDO:0009676 "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed." "ICD10CM:G71.0 SCTID:718179003 NCIT:C142080 DOID:0110276 MESH:C535899 Orphanet:268 GARD:0008574 OMIM:253601" MONDO:0012524 "UMLS:C3463917 Orphanet:99763 Orphanet:427 OMIM:610600" ENVO:01001366 "A process during which particles suspended in a gaseous medium are formed." MONDO:0014995 "UMLS:C4310643 OMIM:617268" UBERON:0001772 GO:1901566 "The chemical reactions and pathways resulting in the formation of organonitrogen compound." -MONDO:0015093 "Orphanet:101029 ICD10:Q04.8" +MONDO:0015093 "Orphanet:101029 ICD10CM:Q04.8" GO:0002818 -MONDO:0017490 "ICD10:Q72.5 Orphanet:295077 UMLS:CN203228" +MONDO:0017490 "Orphanet:295077 UMLS:CN203228 ICD10CM:Q72.5" GO:0010467 "The process in which a gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form." http://identifiers.org/hgnc/6242 UBERON:0035552 MONDO:0006309 "A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." "DOID:3716 ONCOTREE:MSTAD UMLS:C1334809 NCIT:C5248 EFO:1000386" MONDO:0003829 "A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei." "DOID:6257 UMLS:C1518879 NCIT:C3687" -MONDO:0022177 "MESH:C535485 UMLS:C0795849" +MONDO:0022177 "MESH:C535485 GARD:0001929 Orphanet:262932" CHEBI:36360 MONDO:0054677 "EFO:0009159 DOID:0111495 UMLS:C4540209 OMIM:617713" UBERON:0000310 NCBITaxon:235 "GC_ID:11" http://identifiers.org/hgnc/5044 -MONDO:0019805 "Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated" "NCIT:C113824 MESH:D005330 ICD10:O43.029 Orphanet:95431 UMLS:CN206761 SCTID:13404009 ICD10:O43.0 GARD:0000325 DOID:13576 ICD10:O43.02 MedDRA:10058328 EFO:1001221" +MONDO:0019805 "Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated" "NCIT:C113824 MESH:D005330 ICD10CM:O43.0 Orphanet:95431 UMLS:CN206761 SCTID:13404009 GARD:0000325 DOID:13576 MedDRA:10058328 EFO:1001221" UBERON:0010141 MONDO:0004242 "ICD9:578.9 DOID:749 SCTID:74474003" UBERON:0001771 MONDO:0014994 "UMLS:C4310644 OMIM:617260" -MONDO:0019678 "Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb." "UMLS:C1862138 SCTID:720570007 ICD10:Q73.8 MESH:C537091 GARD:0000982 Orphanet:93389" +MONDO:0019678 "Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb." "UMLS:C1862138 SCTID:720570007 OMIM:112900 ICD10CM:Q73.8 MESH:C537091 GARD:0000982 Orphanet:93389" MONDO:0100283 "A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism." -MONDO:0015092 "Orphanet:101023 ICD10:Q35.1 SCTID:448915004" +MONDO:0015092 "Orphanet:101023 ICD10CM:Q35.1 SCTID:448915004" MONDO:0020610 "OMIM:110500" FOODON:03411021 "An aquatic animal is an animal, either vertebrate or invertebrate, which lives in the water for most or all of its lifetime."@en MONDO:0005443 @@ -28998,18 +28977,18 @@ MONDO:0013455 "Any hypertrophic cardiomyopathy in which the cause of the disease FOODON:00001141 UBERON:0003071 GO:0033008 "Any process that activates or increases the frequency, rate, or extent of mast cell activation as part of an immune response." -MONDO:0014089 "OMIM:616964 UMLS:C3808876 Orphanet:352662 UMLS:CN204511 OMIM:615225 ICD10:Q82.8" +MONDO:0014089 "OMIM:616964 UMLS:C3808876 Orphanet:352662 UMLS:CN204511 OMIM:615225 OMIM:617388 ICD10CM:Q82.8" GO:0030593 "The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding." FOODON:03420194 "Poultry, game bird or turtle eggs."@en UBERON:0001774 -MONDO:0010998 "A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3)." "MESH:C535742 ICD10:E77.8 DOID:0080556 UMLS:C1832736 Orphanet:79321 OMIM:601110 SCTID:720976009 NCIT:C126870 GARD:0009827" -MONDO:0001836 "The absence of menses in a woman who has achieved reproductive age." "UMLS:C0002453 MESH:D000568 ICD10:N91.2 NCIT:C61443 DOID:13938 HP:0000141 ICD9:626.0" +MONDO:0010998 "A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3)." "MESH:C535742 DOID:0080556 ICD10CM:E77.8 UMLS:C1832736 Orphanet:79321 OMIM:601110 SCTID:720976009 NCIT:C126870 GARD:0009827" +MONDO:0001836 "The absence of menses in a woman who has achieved reproductive age." "UMLS:C0002453 MESH:D000568 NCIT:C61443 DOID:13938 HP:0000141 ICD9:626.0" GO:1904172 "Any process that activates or increases the frequency, rate or extent of bleb assembly." -MONDO:0008195 "Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3)." "ICD10:G71.1 DOID:0111538 SCTID:41574007 OMIM:168300 Orphanet:684 NCIT:C122790 GARD:0007325 ICD9:359.29" +MONDO:0008195 "Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3)." "ICD10CM:G71.1 DOID:0111538 SCTID:41574007 OMIM:168300 Orphanet:684 NCIT:C122790 GARD:0007325 ICD9:359.29" MONDO:0100112 "A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay." CL:0002012 "A proerythoblast that is Kit-low, Lyg76-positive, and CD71-positive." MONDO:0002941 "A carcinoma that arises from epithelial cells of the perianal skin" "UMLS:C0349534 SCTID:255084004 DOID:4284 NCIT:C7472" -MONDO:0008177 "A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." "ONCOTREE:EMPD UMLS:C0030186 GARD:0004192 MedDRA:10068223 ICDO:8542/3 Orphanet:2800 MESH:D010145 OMIM:167300 ICD10:C44.5 MedDRA:10033366 NCIT:C3302 EFO:1000249" +MONDO:0008177 "A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva." "ONCOTREE:EMPD UMLS:C0030186 GARD:0004192 MedDRA:10068223 ICDO:8542/3 Orphanet:2800 MESH:D010145 OMIM:167300 ICD10CM:C44.5 MedDRA:10033366 NCIT:C3302 EFO:1000249" MONDO:0020611 "OMIM:110900" http://identifiers.org/hgnc/6240 MONDO:0005442 @@ -29017,25 +28996,25 @@ MONDO:0010833 "Any Hirschsprung disease in which the cause of the disease is a m UBERON:0035550 MONDO:0002947 "NCIT:C7585 UMLS:C1304295 DOID:4290 SCTID:402524007" http://identifiers.org/hgnc/24576 -MONDO:0006672 "An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge." "DOID:13033 MESH:D001446 UMLS:C0004690 EFO:1000833 ICD10:N48.1 NCIT:C26705 MedDRA:10004073 SCTID:44882003" +MONDO:0006672 "An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge." "DOID:13033 MESH:D001446 UMLS:C0004690 EFO:1000833 NCIT:C26705 MedDRA:10004073 ICD10CM:N48.1 SCTID:44882003" GO:0070925 "The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane." NCBITaxon:2212966 "GC_ID:1" UBERON:0003070 MONDO:0011329 http://identifiers.org/hgnc/5042 -MONDO:0013726 "DOID:0070347 Orphanet:330050 ICD10:G31.8 OMIM:614388 UMLS:C3280660" +MONDO:0013726 "ICD10CM:G31.8 Orphanet:330050 OMIM:614388 UMLS:C3280660 DOID:0070347" MONDO:0014914 "Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene." "UMLS:C4310833 OMIM:617101" http://identifiers.org/hgnc/870 UBERON:0010143 HP:0011282 "An abnormality of the hindbrain, also known as the rhombencephalon." "UMLS:C4021170" MONDO:0020612 "OMIM:111000" -MONDO:0009015 "Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss." "GARD:0001529 UMLS:C1857572 ICD10:H18.5 SCTID:720749004 OMIM:217400 MESH:C535473 Orphanet:1490 DOID:0111620" +MONDO:0009015 "Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss." "GARD:0001529 UMLS:C1857572 SCTID:720749004 OMIM:217400 MESH:C535473 ICD10CM:H18.5 Orphanet:1490 DOID:0111620" UBERON:0001773 MONDO:0006912 "The presence of gas within the wall of the large or small intestine." "MedDRA:10049732 SCTID:17465007 ICD9:569.89 MESH:D011006 UMLS:C0032266 NCIT:C122580 DOID:13249 EFO:1001113" MONDO:0018699 "Orphanet:457059" MONDO:0009132 "OMIM:224000 MESH:C535728 UMLS:C1857153 GARD:0009475" MONDO:0011866 "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene." "DOID:0060265 OMIM:607596 UMLS:C1843504 Orphanet:2254" -MONDO:0020290 "A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves." "NCIT:C101029 SCTID:15459006 GARD:0000802 ICD9:745.6 OMIM:615779 ICD9:745.69 OMIM:606215 ICD9:745.60 Orphanet:98722 OMIMPS:606215 OMIM:614430 OMIM:606217 ICD10:Q21.2 OMIM:614474 OMIM:600309 DOID:0050651" +MONDO:0020290 "A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves." "NCIT:C101029 SCTID:15459006 GARD:0000802 ICD9:745.6 OMIM:615779 ICD9:745.69 OMIM:606215 ICD9:745.60 Orphanet:98722 OMIMPS:606215 OMIM:614430 OMIM:606217 OMIM:614474 OMIM:600309 DOID:0050651" UBERON:0011342 MONDO:0100451 "A ciliopathy caused by biallelic variants in the CEP290 gene." MONDO:0100057 "A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis." @@ -29043,57 +29022,58 @@ MONDO:0060549 "OMIM:617641 UMLS:C4539968" MONDO:0001744 "The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity." "NCIT:C34639 DOID:13550 SCTID:33647009 MESH:D015812 SCTID:392291006 UMLS:C0017605" UBERON:0015049 MONDO:0013921 "Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TICAM1 gene." "OMIM:614850 Orphanet:1930" -MONDO:0011605 "Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported." "UMLS:C1853919 ICD10:Q82.5 Orphanet:168632 OMIM:605827 MESH:C565284 SCTID:766928004" +MONDO:0011605 "Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported." "UMLS:C1853919 Orphanet:168632 OMIM:605827 MESH:C565284 SCTID:766928004 ICD10CM:Q82.5" CHEBI:64416 "An EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitor that interferes with the action of arogenate dehydrogenase (EC 1.3.1.43)." -MONDO:0019896 "UMLS:C0795833 UMLS:CN206831 ICD10:Q87.8 Orphanet:96147" +MONDO:0019896 "UMLS:C0795833 UMLS:CN206831 ICD10CM:Q87.8 Orphanet:96147" http://identifiers.org/hgnc/4944 -MONDO:0018434 "Orphanet:402017 ICD10:C92.0" +MONDO:0018434 "ICD10CM:C92.0 Orphanet:402017" CHEBI:48407 "A drug used in the treatment of Parkinson's disease." +MONDO:0044967 "OBSOLETE. A disease or disorder that involves the limb." "ICD9:V49.1 SCTID:128605003 UMLS:C1290877" http://identifiers.org/hgnc/20889 -MONDO:0009971 "Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts." "ICD10:P22.0 SCTID:46775006 UMLS:C0035220 EFO:1000644 OMIM:267450 GARD:0000112 ICD9:769 UMLS:C1968593 UMLS:C0020192 Orphanet:70587 DOID:12716 NCIT:C27560" +MONDO:0009971 "Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts." "SCTID:46775006 UMLS:C0035220 EFO:1000644 OMIM:267450 GARD:0000112 ICD9:769 UMLS:C1968593 UMLS:C0020192 Orphanet:70587 DOID:12716 NCIT:C27560" MONDO:0011580 "MESH:C565308 UMLS:C1854064 Orphanet:1173 OMIM:605672" MONDO:0000595 "A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle." "EFO:0004714 NCIT:C92202 SCTID:231532002 DOID:0060043" ENVO:01001581 "A surface layer which is part of an ocean or sea."@en -MONDO:0002319 "A metabolic disorder that affects the phosphate homeostasis." "SCTID:87049008 UMLS:C0031707 ICD9:275.3 NCIT:C97095 DOID:2485 MESH:D010760 ICD10:E83.3" -MONDO:0000507 "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure." "OMIM:615422 GARD:0010899 Orphanet:52430 UMLS:C1833662 ICD10:G71.8 DOID:0050881 OMIM:615424 SCTID:703544004 OMIM:167320 OMIMPS:167320" +MONDO:0002319 "A metabolic disorder that affects the phosphate homeostasis." "SCTID:87049008 UMLS:C0031707 ICD9:275.3 NCIT:C97095 DOID:2485 MESH:D010760 ICD10CM:E83.3" +MONDO:0000507 "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure." "OMIM:615422 GARD:0010899 Orphanet:52430 UMLS:C1833662 DOID:0050881 OMIM:615424 SCTID:703544004 ICD10CM:G71.8 OMIM:167320 OMIMPS:167320" ENVO:01001147 "A gas planet which has an atmosphere composed primarily of helium." CHR:9606-chr7q11 -MONDO:0019895 "Orphanet:96145 ICD10:Q93.5" +MONDO:0019895 "Orphanet:96145 ICD10CM:Q93.5" MONDO:0021745 "A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress." "UMLS:C1455735 GARD:0009440 SCTID:39465007 MESH:C535569" GO:0004155 "Catalysis of the reaction: NADP+ + 5,6,7,8-tetrahydropteridine = NADPH + H+ + 6,7-dihydropteridine." CL:0002327 "An epithelial cell of the mammary gland." "BTO:0004300" http://identifiers.org/hgnc/2548 UBERON:0010145 -MONDO:0001807 "OBSOLETE. A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1." "Orphanet:79211 SCTID:238040008 OMIM:144250 DOID:13809 ICD10:E78.2 MESH:D006950 ICD9:272.4 ICD10:E78.4 MedDRA:10027763" -MONDO:0019124 "Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs." "NCIT:C70549 MedDRA:10063344 ICD10:M31.7 Orphanet:727 SCTID:239928004 MESH:D055953 EFO:1000784 GARD:0003652 UMLS:C2347126" +MONDO:0001807 "OBSOLETE. A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1." "Orphanet:79211 SCTID:238040008 OMIM:144250 DOID:13809 MESH:D006950 ICD9:272.4 MedDRA:10027763" +MONDO:0019124 "Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs." "NCIT:C70549 MedDRA:10063344 Orphanet:727 SCTID:239928004 ICD10CM:M31.7 MESH:D055953 EFO:1000784 GARD:0003652 UMLS:C2347126" http://identifiers.org/hgnc/9834 -MONDO:0018431 "Orphanet:401993 UMLS:CN226150 ICD10:G90.8" -MONDO:0018697 "UMLS:CN237766 Orphanet:456298 ICD10:Q93.5" +MONDO:0018431 "Orphanet:401993 ICD10CM:G90.8 UMLS:CN226150" +MONDO:0018697 "UMLS:CN237766 Orphanet:456298 ICD10CM:Q93.5" HP:0410243 "An abnormal deviation from normal levels of IgM immunoglobulin in blood." MONDO:0009396 "UMLS:C1855924 MESH:C565496 OMIM:239199" http://identifiers.org/hgnc/20626 MONDO:0015938 -MONDO:0009764 "Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type." "SCTID:405809000 GARD:0000016 MESH:C537423 ICD10:H51.8 Orphanet:1125 OMIM:257550" -MONDO:0003398 "Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)" "ICD10:R41.1 DOID:5340 MESH:D020324" +MONDO:0009764 "Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type." "SCTID:405809000 GARD:0000016 MESH:C537423 Orphanet:1125 OMIM:257550 ICD10CM:H51.8" +MONDO:0003398 "Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)" "DOID:5340 MESH:D020324 ICD10CM:R41.1" http://identifiers.org/hgnc/3748 http://identifiers.org/hgnc/8636 -MONDO:0013875 "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene." "UMLS:C3553597 DOID:0110001 Orphanet:352328 OMIM:614739 ICD10:E71.1 GARD:0012963 SCTID:711409002" +MONDO:0013875 "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene." "UMLS:C3553597 DOID:0110001 Orphanet:352328 ICD10CM:E71.1 OMIM:614739 GARD:0012963 SCTID:711409002" MONDO:0002426 "A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma." "NCIT:C4860 UMLS:C0598790 DOID:2784" -MONDO:0008783 "Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." "SCTID:723579009 UMLS:C0039292 GARD:0007731 Orphanet:31150 DOID:1388 NCIT:C85182 OMIM:205400 MESH:D013631 MedDRA:10051875 ICD10:E78.6" +MONDO:0008783 "Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." "SCTID:723579009 UMLS:C0039292 GARD:0007731 Orphanet:31150 DOID:1388 NCIT:C85182 OMIM:205400 MESH:D013631 MedDRA:10051875 ICD10CM:E78.6" MONDO:0012780 "OMIM:612009" UBERON:0015047 ENVO:2000045 -MONDO:0017233 "SCTID:721219005 ICD10:A81.8 Orphanet:280397 UMLS:C4303482 UMLS:CN202723" +MONDO:0017233 "SCTID:721219005 Orphanet:280397 UMLS:C4303482 UMLS:CN202723 ICD10CM:A81.8" NCBITaxon:1496 "GC_ID:11 PMID:27902176 PMID:23834245 PMID:27370902" MONDO:0003237 "A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue." "UMLS:C1336903 DOID:4994 NCIT:C6338" MONDO:0015112 "OBSOLETE. Any of the forms of pancreas disease that have a rare incidence." "Orphanet:101937" UBERON:0001770 UBERON:0010146 -MONDO:0008412 "An intestinal infection that is caused by Schistosoma japonicum." "NCIT:C35364 ICD10:B65.2 SCTID:240796008 EFO:1001419 SCTID:52179003 ICD9:120.1 NCIT:C35001 NCIT:C35002 Orphanet:1247 ICD9:120.2 MESH:D012554 MESH:D012555 UMLS:C0276932 DOID:0050597 ICD10:B65.1 SCTID:750009 SCTID:268058007" +MONDO:0008412 "An intestinal infection that is caused by Schistosoma japonicum." "NCIT:C35364 SCTID:240796008 EFO:1001419 SCTID:52179003 ICD9:120.1 NCIT:C35001 NCIT:C35002 Orphanet:1247 ICD9:120.2 MESH:D012554 MESH:D012555 UMLS:C0276932 DOID:0050597 SCTID:750009 SCTID:268058007" GO:0005750 "A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. Contains about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1." -MONDO:0018432 "ICD10:L98.5 SCTID:111197009 ICD9:701.8 UMLS:C0263390 Orphanet:402007" -MONDO:0004737 "An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems." "OMIM:236200 NCIT:C84765 Orphanet:394 DOID:9263 HP:0002156 OMIM:236250 GARD:0010770 UMLS:C0019880 ICD10:E72.11 SCTID:11282001" -MONDO:0012476 "Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy." "OMIM:610357 ICD10:G11.4 SCTID:763377006 MESH:C563677 DOID:0110781 Orphanet:101010 UMLS:C1835896" +MONDO:0018432 "SCTID:111197009 ICD10CM:L98.5 ICD9:701.8 UMLS:C0263390 Orphanet:402007" +MONDO:0004737 "An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems." "OMIM:236200 NCIT:C84765 DOID:9263 Orphanet:394 HP:0002156 OMIM:236250 GARD:0010770 UMLS:C0019880 ICD10CM:E72.11 SCTID:11282001" +MONDO:0012476 "Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy." "OMIM:610357 ICD10CM:G11.4 SCTID:763377006 MESH:C563677 DOID:0110781 Orphanet:101010 UMLS:C1835896" ENVO:01000295 "A layer that is part of a marine water body." UBERON:0035554 MONDO:0013724 "Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene." "OMIM:614383" @@ -29101,11 +29081,11 @@ GO:0007059 "The process in which genetic material, in the form of chromosomes, i MONDO:0015937 "UMLS:CN200527 Orphanet:182214" UBERON:0007606 MONDO:0012781 "OMIM:612010" -MONDO:0019897 "Orphanet:96149 ICD10:Q93.5" +MONDO:0019897 "Orphanet:96149 ICD10CM:Q93.5" MONDO:0010384 "Orphanet:440 UMLS:C2678098 MESH:C567482 OMIM:300633" -MONDO:0012108 "Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." "SCTID:719166003 Orphanet:156728 GARD:0010611 ICD10:Q77.7 UMLS:C1837481 OMIM:608728 MESH:C563869" -MONDO:0018301 "A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain." "ICD10:N30.1 UMLS:C0600040 NCIT:C27189 MESH:D018856 DOID:13949 SCTID:197834003 MedDRA:10011796 SCTID:111409009 UMLS:CN204884 UMLS:C0282488 EFO:1000869 Orphanet:37202 UMLS:C1720830 MedDRA:10008927 DOID:1678 ICD9:595.1" -MONDO:0009655 "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures." "OMIM:252900 GARD:0007071 GARD:0002649 ICD10:E76.2 UMLS:C0086647 Orphanet:79269 Orphanet:581 DOID:0111395 SCTID:41572006 NCIT:C84897" +MONDO:0012108 "Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." "SCTID:719166003 Orphanet:156728 GARD:0010611 ICD10CM:Q77.7 UMLS:C1837481 OMIM:608728 MESH:C563869" +MONDO:0018301 "A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain." "UMLS:C0600040 NCIT:C27189 MESH:D018856 DOID:13949 SCTID:197834003 MedDRA:10011796 SCTID:111409009 UMLS:CN204884 UMLS:C0282488 EFO:1000869 Orphanet:37202 UMLS:C1720830 MedDRA:10008927 DOID:1678 ICD9:595.1" +MONDO:0009655 "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures." "OMIM:252900 GARD:0007071 GARD:0002649 UMLS:C0086647 Orphanet:79269 Orphanet:581 DOID:0111395 SCTID:41572006 NCIT:C84897 ICD10CM:E76.2" CL:0002339 "A prostate epithelial cell that is CD133-positive, CD44-positive, integrin A2beta3-high. This cell is a stem cell for the prostate epithelium." GO:0044297 "The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections." UBERON:0010147 @@ -29118,41 +29098,41 @@ MONDO:0013980 "UMLS:C3554145 OMIM:614936 Orphanet:79501" MONDO:0007832 "OMIM:147560" MONDO:0014046 "Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene." "OMIM:615107 Orphanet:201 UMLS:C3554517" GO:0034763 "Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other." -MONDO:0008209 "Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies." "SCTID:703534001 GARD:0001237 ICD10:Q87.8 DOID:0060563 UMLS:C1868570 ICD9:759.89 MESH:C566815 Orphanet:46627 OMIM:169100" +MONDO:0008209 "Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies." "SCTID:703534001 GARD:0001237 DOID:0060563 ICD10CM:Q87.8 UMLS:C1868570 ICD9:759.89 MESH:C566815 Orphanet:46627 OMIM:169100" MONDO:0025270 "Acquired infection of non-human animals by organisms of the genus toxoplasma." "UMLS:C0040559 MESH:D014124" MONDO:0056804 "DOID:0080320" NCBITaxon:1314886 "GC_ID:1" -MONDO:0016034 "ICD10:Q36.1 ICD10:Q37.1 Orphanet:1991 ICD10:Q37.3 ICD10:Q37.8 ICD10:Q36.0 ICD10:Q37.0 ICD10:Q37.5 ICD10:Q37.2 ICD10:Q37.4 ICD10:Q36.9 ICD10:Q37.9" +MONDO:0016034 "ICD10CM:Q37.0 Orphanet:1991 ICD10CM:Q37.2 ICD10CM:Q37.9 ICD10CM:Q36.9 ICD10CM:Q37.1 ICD10CM:Q37.4 ICD10CM:Q36.1 ICD10CM:Q37.3 ICD10CM:Q37.5 ICD10CM:Q37.8 ICD10CM:Q36.0" http://identifiers.org/hgnc/6239 http://identifiers.org/hgnc/9832 -MONDO:0017231 "ICD10:E80.2 Orphanet:280379 GARD:0010948" -MONDO:0019892 "Orphanet:96126 ICD10:Q93.5" +MONDO:0017231 "ICD10CM:E80.2 Orphanet:280379 GARD:0010948" +MONDO:0019892 "Orphanet:96126 ICD10CM:Q93.5" GO:0022603 "Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis." MONDO:0003553 "A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." "UMLS:C1332245 NCIT:C27418 DOID:5628" MONDO:0012782 "OMIM:612011" MONDO:0015935 "Orphanet:182127 MedDRA:10018207" MONDO:0010387 "OMIM:300640" -MONDO:0018009 "Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema." "Orphanet:329883 ICD10:K29.6" -MONDO:0017497 "ICD10:Q72.1 Orphanet:295091 ICD10:Q72.13" +MONDO:0018009 "Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema." "Orphanet:329883 ICD10CM:K29.6" +MONDO:0017497 "ICD10CM:Q72.13 ICD10CM:Q72.1 Orphanet:295091" http://identifiers.org/hgnc/4948 -MONDO:0005052 "Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterised by abdominal pain or discomfort and disordered bowel habit (diarrhoea, constipation, or fluctuation between the two)." "ICD10:K58 ICD10:K58.9 UMLS:C0022104 SCTID:10743008 EFO:0000555 NCIT:C82343 MESH:D043183 ICD9:564.1 DOID:9778" +MONDO:0005052 "Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterised by abdominal pain or discomfort and disordered bowel habit (diarrhoea, constipation, or fluctuation between the two)." "UMLS:C0022104 SCTID:10743008 EFO:0000555 NCIT:C82343 ICD10CM:K58 MESH:D043183 ICD9:564.1 DOID:9778" http://identifiers.org/hgnc/7436 MONDO:0004714 "A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves." "NCIT:C84574 DOID:913" -MONDO:0035357 "Orphanet:596937 ICD10:K76.8" +MONDO:0035357 "Orphanet:596937 ICD10CM:K76.8" MONDO:0000473 "An impairment of the structure or function of the blood vessels which carry blood away from the heart." "SCTID:359557001 ICD9:447.8 NCIT:C35317 DOID:0050828 UMLS:C0852949 ICD9:447.9" MONDO:0007833 "OMIM:147610" -MONDO:0011338 "An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID)." "DOID:0060010 GARD:0008198 OMIM:603554 UMLS:C1801959 ICD10:D81.8 NCIT:C61240 SCTID:722067005 Orphanet:39041 MedDRA:10069097" -MONDO:0009224 "Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH)." "SCTID:718228001 Orphanet:1910 UMLS:C4273860 GARD:0002304 OMIM:228355 ICD10:P72.2" +MONDO:0011338 "An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID)." "DOID:0060010 GARD:0008198 OMIM:603554 UMLS:C1801959 ICD10CM:D81.8 NCIT:C61240 SCTID:722067005 Orphanet:39041 MedDRA:10069097" +MONDO:0009224 "Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH)." "ICD10CM:P72.2 SCTID:718228001 Orphanet:1910 UMLS:C4273860 GARD:0002304 OMIM:228355" CHEBI:77956 "A cationic sphingoid resulting from the protonation of the amino group of L-erythro-sphingosine; major species at pH 7.3." -MONDO:0006982 "Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function." "NCIT:C35828 ICD9:245.1 EFO:1001194 MESH:D013968 UMLS:C0040149 MedDRA:10042298 SCTID:428041004 DOID:7165 ICD10:E06.1" -MONDO:0019891 "ICD10:Q93.0 UMLS:C0795878 Orphanet:96123 NCIT:C36461" +MONDO:0006982 "Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function." "NCIT:C35828 ICD9:245.1 EFO:1001194 MESH:D013968 UMLS:C0040149 ICD10CM:E06.1 MedDRA:10042298 SCTID:428041004 DOID:7165" +MONDO:0019891 "UMLS:C0795878 Orphanet:96123 ICD10CM:Q93.0 NCIT:C36461" MONDO:0008632 "Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success." "OMIM:191850 ICD9:708.8 GARD:0010901 SCTID:89870006 MESH:C562481 UMLS:C0263334" http://identifiers.org/hgnc/15946 UBERON:0013749 -MONDO:0008515 "Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5)." "MESH:C566092 SCTID:719158007 GARD:0004434 ICD10:Q70.4 UMLS:C1861355 Orphanet:93405 OMIM:186200" -MONDO:0006755 "Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness." "ICD10:E07.81 DOID:2856 UMLS:C0015190 MESH:D005067 EFO:1000931 ICD9:790.94 SCTID:237542005 NCIT:C113170 MedDRA:10015549" +MONDO:0008515 "Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5)." "MESH:C566092 SCTID:719158007 GARD:0004434 UMLS:C1861355 Orphanet:93405 OMIM:186200 ICD10CM:Q70.4" +MONDO:0006755 "Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness." "DOID:2856 UMLS:C0015190 MESH:D005067 ICD10CM:E07.81 EFO:1000931 ICD9:790.94 SCTID:237542005 NCIT:C113170 MedDRA:10015549" MONDO:0005634 "Acute conjunctivitis that is characterized by bleeding into the conjunctiva." "EFO:0007131 ICD9:077.4 UMLS:C0009765 NCIT:C34505 MESH:D003232 DOID:11227 SCTID:398264003" -MONDO:0004708 "Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)" "SCTID:92585006 UMLS:C0154059 NCIT:C89771 ICD10:D00.1 ICD9:230.1 DOID:9095" +MONDO:0004708 "Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)" "SCTID:92585006 UMLS:C0154059 NCIT:C89771 ICD10CM:D00.1 ICD9:230.1 DOID:9095" MONDO:0015934 "Orphanet:182124" MONDO:0010120 "OMIM:273900 Orphanet:268322 Orphanet:168629 MESH:C567487 UMLS:C2678311" MONDO:0014080 "OMIM:615198 Orphanet:500548 UMLS:C3554665" @@ -29165,53 +29145,53 @@ GO:0062149 "The series of events involved in the perception of pain in which a s MONDO:0100011 "The chronic degeneration of a tendon without inflammation." "SCTID:724152009" http://identifiers.org/hgnc/25781 http://identifiers.org/hgnc/19899 -MONDO:0009331 "Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma." "MESH:C565524 GARD:0002630 OMIM:235000 UMLS:C1856184 MedDRA:10019463 Orphanet:2128 ICD10:Q87.3" +MONDO:0009331 "Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma." "MESH:C565524 ICD10CM:Q87.3 GARD:0002630 OMIM:235000 UMLS:C1856184 MedDRA:10019463 Orphanet:2128" MONDO:0009751 "A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities." "DOID:0070160 MESH:C564946 OMIM:256860 UMLS:C1850384" MONDO:0018693 MONDO:0022180 "GARD:0007060 NCIT:C37866" -MONDO:0001403 "A malignant neoplasm involving the labium majora." "SCTID:363446004 UMLS:C0496814 ICD9:184.1 NCIT:C7638 ICD10:C51.0 DOID:11905" -MONDO:0009785 "Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism." "SCTID:254068007 MESH:C537122 GARD:0004098 ICD10:Q78.8 OMIM:258480 UMLS:C0432219 Orphanet:2746" -MONDO:0002350 "An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome." "OMIMPS:256300 DOID:2590 SCTID:48796009 NCIT:C35337 UMLS:CN043611 ICD10:N04 UMLS:C3501848" +MONDO:0001403 "A malignant neoplasm involving the labium majora." "SCTID:363446004 UMLS:C0496814 ICD9:184.1 NCIT:C7638 DOID:11905" +MONDO:0009785 "Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism." "SCTID:254068007 MESH:C537122 ICD10CM:Q78.8 GARD:0004098 OMIM:258480 UMLS:C0432219 Orphanet:2746" +MONDO:0002350 "An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome." "OMIMPS:256300 DOID:2590 SCTID:48796009 NCIT:C35337 UMLS:CN043611 UMLS:C3501848" MONDO:0011321 "MESH:C566375 UMLS:C1863880 OMIM:603439" MONDO:0013982 "DOID:0111653 OMIM:614940 UMLS:C3541517 Orphanet:1810 Orphanet:238468" NCBITaxon:1491 "PMID:10028279 PMID:15244052 GC_ID:11" -MONDO:0001355 "A hemosiderosis that involves the camera-type eye." "ICD9:360.23 SCTID:25277000 DOID:11754 UMLS:C0271001 ICD10:H44.32" +MONDO:0001355 "A hemosiderosis that involves the camera-type eye." "ICD9:360.23 SCTID:25277000 DOID:11754 UMLS:C0271001" UBERON:0013748 PATO:0001396 "A monadic quality of continuant that exists at the cellular level of organisation." -MONDO:0019894 "Orphanet:96136 ICD10:Q93.5" +MONDO:0019894 "Orphanet:96136 ICD10CM:Q93.5" MONDO:0003846 "Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning." "SCTID:235603003 UMLS:C0341110 DOID:6297 NCIT:C27108" http://identifiers.org/hgnc/17245 HP:0003549 "Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat)." "UMLS:C4025596" MONDO:0008719 "Autosomal recessive form of acrorenal syndrome." "GARD:0000514 MESH:C535666 UMLS:C0796290 OMIM:201310 Orphanet:971" -MONDO:0006005 "A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting." "ICD10:A92.2 SCTID:417067005 ICD9:066.2 GARD:0006355 DOID:9584 EFO:0007534 NCIT:C35121 UMLS:C0014078 MESH:D004685" -MONDO:0017495 "Orphanet:295087 ICD10:Q71.1 ICD10:Q71.13" +MONDO:0006005 "A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting." "SCTID:417067005 ICD9:066.2 GARD:0006355 DOID:9584 EFO:0007534 NCIT:C35121 UMLS:C0014078 ICD10CM:A92.2 MESH:D004685" +MONDO:0017495 "Orphanet:295087 ICD10CM:Q71.1 ICD10CM:Q71.13" UBERON:0015043 -MONDO:0012449 "Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." "MESH:C537201 ICD10:G11.2 UMLS:C1853250 OMIM:610245 Orphanet:101108 UMLS:C4305146 GARD:0009950 DOID:0050973 SCTID:718772002" -MONDO:0005387 "Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries." "SCTID:65846009 Orphanet:619 NCIT:C113352 ICD10:E28.3 MESH:D016649 EFO:0004266 SCTID:237788002 ICD9:253.4 ICD9:256.39 UMLS:C0085215 DOID:5426 SCTID:370999003" -MONDO:0008695 "Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." "Orphanet:2388 ICD10:E78.6 SCTID:66881004 OMIM:200150 ICD9:333.0 DOID:0050766 GARD:0003956" -MONDO:0014074 "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range." "GARD:0009206 OMIM:615185 ICD10:G60.0 DOID:0110206 Orphanet:352670 UMLS:C3554654" +MONDO:0012449 "Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." "ICD10CM:G11.2 MESH:C537201 UMLS:C1853250 OMIM:610245 Orphanet:101108 UMLS:C4305146 GARD:0009950 DOID:0050973 SCTID:718772002" +MONDO:0005387 "Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries." "SCTID:65846009 Orphanet:619 NCIT:C113352 ICD10CM:E28.3 MESH:D016649 EFO:0004266 SCTID:237788002 ICD9:253.4 ICD9:256.39 UMLS:C0085215 DOID:5426 SCTID:370999003" +MONDO:0008695 "Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." "Orphanet:2388 ICD10CM:E78.6 SCTID:66881004 OMIM:200150 ICD9:333.0 DOID:0050766 GARD:0003956" +MONDO:0014074 "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range." "GARD:0009206 OMIM:615185 ICD10CM:G60.0 DOID:0110206 Orphanet:352670 UMLS:C3554654" CL:0009033 "A plasma cell that is located in a vermiform appendix." -MONDO:0019174 "OBSOLETE. Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD)." "OMIM:614873 OMIM:614920 ICD10:G60.1 MESH:D052919 OMIM:614863 GARD:0004648 UMLS:C0282527 Orphanet:772 OMIM:601539 OMIM:614885 OMIM:614867 OMIM:614871 OMIM:202370 OMIM:266510 SCTID:238062008 OMIM:614877 NCIT:C84789" +MONDO:0019174 "OBSOLETE. Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD)." "OMIM:614873 OMIM:614920 MESH:D052919 OMIM:614863 GARD:0004648 UMLS:C0282527 Orphanet:772 OMIM:601539 OMIM:614885 OMIM:614867 OMIM:614871 OMIM:202370 OMIM:266510 SCTID:238062008 ICD10CM:G60.1 OMIM:614877 NCIT:C84789" MONDO:0011586 "OMIM:605727 MESH:C565302 UMLS:C1854022" -MONDO:0005885 "Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated." "ICD9:377.30 SCTID:66760008 EFO:0007405 DOID:1210 ICD10:H46 ICD9:377.3 NCIT:C84950 ICD9:377.39 ICD10:H46.9 MESH:D009902 GARD:0007320" +MONDO:0005885 "Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated." "ICD9:377.30 SCTID:66760008 EFO:0007405 DOID:1210 ICD9:377.3 NCIT:C84950 ICD9:377.39 MESH:D009902 ICD10CM:H46 GARD:0007320" MONDO:0006761 "A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation." "UMLS:C1851111 MESH:D005352 MESH:C537929 EFO:1000938 NCIT:C84714 MedDRA:10054794 OMIM:135580 Orphanet:336" MONDO:0013983 "UMLS:C3539920 Orphanet:238468 Orphanet:248 OMIM:614941 DOID:0111654" http://identifiers.org/hgnc/9831 -MONDO:0019376 "An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis." "DOID:2365 MESH:D014901 SCTID:392662004 OMIM:610379 ICD9:066.41 ICD10:A92.31 EFO:0007545 ICD10:A92.3 Orphanet:83476 GARD:0009959" -MONDO:0016031 "ICD10:Q87.0 MESH:C536384 GARD:0002221 Orphanet:1969 UMLS:C2931183" -MONDO:0017230 "Orphanet:280365 UMLS:CN202719 ICD10:E88.1" -MONDO:0014082 "OMIM:615207 UMLS:C3554687 ICD10:D81.8 Orphanet:357329" +MONDO:0019376 "An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis." "DOID:2365 MESH:D014901 SCTID:392662004 OMIM:610379 ICD9:066.41 ICD10CM:A92.3 EFO:0007545 Orphanet:83476 GARD:0009959" +MONDO:0016031 "MESH:C536384 GARD:0002221 Orphanet:1969 UMLS:C2931183 ICD10CM:Q87.0" +MONDO:0017230 "ICD10CM:E88.1 Orphanet:280365 UMLS:CN202719" +MONDO:0014082 "OMIM:615207 ICD10CM:D81.8 UMLS:C3554687 Orphanet:357329" CHEBI:33608 MONDO:0010388 "OMIM:300643 Orphanet:163721 MESH:C564467 UMLS:C1845070" MONDO:0009399 "MESH:C565494 UMLS:C1855922 OMIM:239350" -MONDO:0009723 "A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions." "Orphanet:506 NCIT:C84814 GARD:0006877 MESH:D007888 MedDRA:10062950 ICD10:G31.82 ICD9:330.8 UMLS:C0023264 ICD10:G31.8 DOID:3652 OMIM:256000 SCTID:29570005 Orphanet:255210 OMIM:220111" -MONDO:0017496 "ICD10:Q72.1 Orphanet:295089" -MONDO:0015099 "Orphanet:101071 ICD10:Q04.3" +MONDO:0009723 "A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions." "ICD10CM:G31.8 Orphanet:506 NCIT:C84814 GARD:0006877 MESH:D007888 MedDRA:10062950 ICD9:330.8 UMLS:C0023264 DOID:3652 OMIM:256000 SCTID:29570005 Orphanet:255210 OMIM:220111" +MONDO:0017496 "ICD10CM:Q72.1 Orphanet:295089" +MONDO:0015099 "Orphanet:101071 ICD10CM:Q04.3" MONDO:0012785 "UMLS:C2677588 OMIM:612017 MESH:C567435" ECTO:4000001 "A exposure event involving the interaction of an exposure receptor to increased temperature." UBERON:0005206 HP:0100887 "An abnormality in the size of the ocular globe (eyeball)." "UMLS:C4021945" -MONDO:0016419 "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." "ICD10:C50.0 NCIT:C4503 MESH:C562840 ICD10:C50.4 SCTID:254843006 Orphanet:227535 UMLS:C0346153 OMIM:604370 ICD10:C50.1 OMIM:613399 OMIM:600048 ICD10:C50.2 ICD10:C50.5 ICD10:C50.8 OMIM:114480 OMIM:612555 ICD10:C50.3 ICD10:C50.6 OMIM:605365" +MONDO:0016419 "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." "ICD10CM:C50.6 NCIT:C4503 MESH:C562840 SCTID:254843006 Orphanet:227535 UMLS:C0346153 ICD10CM:C50.1 OMIM:604370 ICD10CM:C50.4 OMIM:613399 ICD10CM:C50.8 OMIM:600048 OMIM:114480 ICD10CM:C50.2 ICD10CM:C50.5 OMIM:612555 OMIM:605365 ICD10CM:C50.0 ICD10CM:C50.3" UBERON:0007601 http://identifiers.org/hgnc/29216 MONDO:0032859 "OMIM:618664" @@ -29224,11 +29204,11 @@ NCBITaxon:1236 "GC_ID:11 PMID:23334881 PMID:16280474" CL:0000453 "Langerhans cell is a conventional dendritic cell that has plasma membrane part CD207. A Langerhans cell is a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus." "CALOHA:TS-2375 BTO:0000705 FMA:63072" MONDO:0006022 "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic." "SCTID:51387008 HP:0001941 ICD9:276.2 EFO:1000014 NCIT:C83504" MONDO:0002366 "Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system." "NCIT:C5112 UMLS:C1332356 DOID:2621" -MONDO:0016005 "Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants." "SCTID:715430001 ICD10:Q86.8 Orphanet:1909 UMLS:C4275138 UMLS:CN200656 GARD:0002994" +MONDO:0016005 "Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants." "SCTID:715430001 Orphanet:1909 ICD10CM:Q86.8 UMLS:C4275138 UMLS:CN200656 GARD:0002994" UBERON:0015041 GO:0010823 "Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion." -MONDO:0014005 "Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation." "Orphanet:54370 ICD10:N00.5 NCIT:C123055 Orphanet:357008 Orphanet:329903 Orphanet:2134 OMIM:615008" -MONDO:0012125 "Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene." "UMLS:C1837355 MESH:C563855 ICD10:E75.2 Orphanet:280282 OMIM:608804 DOID:0060787 Orphanet:280270" +MONDO:0014005 "Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation." "Orphanet:54370 ICD10CM:N00.5 NCIT:C123055 Orphanet:357008 Orphanet:329903 Orphanet:2134 OMIM:615008" +MONDO:0012125 "Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene." "UMLS:C1837355 MESH:C563855 Orphanet:280282 ICD10CM:E75.2 OMIM:608804 DOID:0060787 Orphanet:280270" http://identifiers.org/hgnc/28018 ENVO:01001206 "An ecosystem in which grasses (Graminae) are the dominant form of vegetation and determine the system's structure and dynamics." CL:0000807 "A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain." @@ -29236,8 +29216,8 @@ UBERON:0005207 GO:0051969 "Any process that modulates the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation." ENVO:09000009 "The concentration of a carbon atom when measured in water." MONDO:0032858 "OMIM:618663" -MONDO:0003265 "A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present." "ICD9:309.89 SCTID:17226007 ICD9:309.9 NCIT:C92191 DOID:507 ICD9:309 MESH:D000275" -MONDO:0009072 "Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia." "MedDRA:10048411 DOID:2785 OMIM:220200 Orphanet:217 ICD10:Q03.1 GARD:0006242 SCTID:14447001 EFO:1000890 NCIT:C75012 MESH:D003616 UMLS:C0010964" +MONDO:0003265 "A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present." "ICD9:309.89 SCTID:17226007 ICD9:309.9 NCIT:C92191 DOID:507 ICD10CM:F90-98 ICD9:309 MESH:D000275" +MONDO:0009072 "Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia." "OMIM:220200 ICD10CM:Q03.1 DOID:2785 MedDRA:10048411 GARD:0006242 SCTID:14447001 Orphanet:217 MESH:D003616 NCIT:C75012 EFO:1000890 UMLS:C0010964" UBERON:0006668 MONDO:0006388 "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin." "EFO:1000497 NCIT:C5962 UMLS:C1334614" CHEBI:35480 "An agent capable of relieving pain without the loss of consciousness or without producing anaesthesia. In addition, analgesic is a role played by a compound which is exhibited by a capability to cause a reduction of pain symptoms." @@ -29245,48 +29225,48 @@ MONDO:0002693 "Formation or presence of a blood clot (thrombus) in the lateral s MONDO:0060783 "A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement." "UMLS:C4329672 NCIT:C131423" CL:1000282 "A smooth muscle cell that is part of the ascending colon." "FMA:17518" UBERON:0015042 -MONDO:0009139 "MESH:C537999 ICD9:756.59 UMLS:C0432209 SCTID:95243004 Orphanet:156731 OMIM:224400 GARD:0009810 ICD10:Q77.7" +MONDO:0009139 "ICD10CM:Q77.7 MESH:C537999 ICD9:756.59 UMLS:C0432209 SCTID:95243004 Orphanet:156731 OMIM:224400 GARD:0009810" GO:0010906 "Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose." UBERON:0005208 CHEBI:48360 "Self-ionizing solvent possessing both characteristics of Bronsted acids and bases." MONDO:0035354 -MONDO:0020291 "Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia." "GARD:0002922 DOID:0070315 Orphanet:98723 ICD9:746.89 ICD10:Q22.6 MedDRA:10050053 NCIT:C99053 SCTID:268180007 MedDRA:10064962 UMLS:C0344963" +MONDO:0020291 "Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia." "GARD:0002922 DOID:0070315 Orphanet:98723 ICD10CM:Q22.6 ICD9:746.89 MedDRA:10050053 NCIT:C99053 SCTID:268180007 MedDRA:10064962 UMLS:C0344963" MONDO:0014859 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene." "UMLS:C4310770 DOID:0080435 OMIM:616981" MONDO:0010351 "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B." "OMIM:300514 MESH:C564497 UMLS:C1845292 Orphanet:84 NCIT:C125703 DOID:0111098" MONDO:0012729 "Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene." "Orphanet:247511 OMIM:611783 UMLS:C2673187 DOID:0080339 MESH:C567086" GO:0031410 "A vesicle found in the cytoplasm of a cell." -MONDO:0016383 "Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children." "SCTID:111395007 MedDRA:10029147 MESH:D018500 GARD:0007178 NCIT:C84919 DOID:12387 OMIM:125800 OMIM:304800 ICD10:N25.1 Orphanet:223 UMLS:C0162283 ICD9:588.1" +MONDO:0016383 "Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children." "SCTID:111395007 MedDRA:10029147 MESH:D018500 ICD10CM:N25.1 GARD:0007178 NCIT:C84919 DOID:12387 OMIM:125800 OMIM:304800 Orphanet:223 UMLS:C0162283 ICD9:588.1" MONDO:0002863 "A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma." "UMLS:C0334481 UMLS:C1709053 DOID:4065 ICDO:8902/3 NCIT:C4259" http://identifiers.org/hgnc/40038 ENVO:01001048 "An environmental system which has its properties and dynamics determined by sediment." http://identifiers.org/hgnc/12340 -MONDO:0006248 "A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes." "MESH:D006828 EFO:1000298 OMIM:231090 ONCOTREE:MP ICDO:9100/0 OMIM:614293 ICD10:O01.1 OMIMPS:231090 Orphanet:99927 ICD9:631 GARD:0010263 ICD10:O01.0 NCIT:C3110 ICD10:O01.9 UMLS:C0020217 SCTID:44782008 MedDRA:10020481" +MONDO:0006248 "A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes." "ICD10CM:O01.0 SCTID:44782008 ICD10CM:O00-O08 ICD9:631 ICD10CM:O01.9 Orphanet:99927 ICD10CM:O01.1 EFO:1000298 OMIM:231090 GARD:0010263 NCIT:C3110 UMLS:C0020217 ICDO:9100/0 ONCOTREE:MP MESH:D006828 MedDRA:10020481 OMIM:614293 OMIMPS:231090" CHR:9606-chr17p1 GO:0051174 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus." MONDO:0023119 "MESH:C536848 GARD:0008516 UMLS:C2931351" GO:0051985 "Any process that stops, prevents, or reduces the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets." MONDO:0037821 "A disease that has its basis in the disruption of porphyrin-containing compound metabolic process." "SCTID:29094004" -MONDO:0007449 "Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely." "Orphanet:1660 GARD:0001816 ICD10:Q82.4 SCTID:721091003 UMLS:C1852144 MESH:C565103 UMLS:C4303591 OMIM:125640" -MONDO:0013438 "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene." "ICD10:Q04.3 UMLS:C3151140 Orphanet:2524 OMIM:613811 DOID:0060270" +MONDO:0007449 "Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely." "Orphanet:1660 GARD:0001816 SCTID:721091003 UMLS:C1852144 ICD10CM:Q82.4 MESH:C565103 UMLS:C4303591 OMIM:125640" +MONDO:0013438 "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene." "Orphanet:2524 UMLS:C3151140 OMIM:613811 DOID:0060270" MONDO:0011336 "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene." "OMIM:603552 Orphanet:540 MESH:C537252 DOID:0110924 GARD:0009929" MONDO:0002808 "A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss." "DOID:3917 ONCOTREE:PSC NCIT:C5712 UMLS:C1335316" -MONDO:0019377 "Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis)." "Orphanet:83482 ICD10:B96.0" -MONDO:0024318 "ICD10:A80.A89 MESH:D020805 SCTID:302810003 UMLS:C0348165" -MONDO:0002203 "Irregular and infrequent or difficult evacuation of the bowels." "ICD9:564.0 NCIT:C37930 ICD9:564.00 MESH:D003248 ICD10:K59.0 SCTID:14760008 ICD10:K59.00 DOID:2089 HP:0002019" +MONDO:0019377 "Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis)." "Orphanet:83482 ICD10CM:B96.0" +MONDO:0024318 "MESH:D020805 ICD10CM:A80-A89 SCTID:302810003 UMLS:C0348165" +MONDO:0002203 "Irregular and infrequent or difficult evacuation of the bowels." "ICD9:564.0 ICD10CM:K59.0 NCIT:C37930 ICD9:564.00 MESH:D003248 SCTID:14760008 DOID:2089 HP:0002019" http://identifiers.org/hgnc/11142 http://identifiers.org/hgnc/29215 -MONDO:0010379 "Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." "Orphanet:3057 UMLS:C0796275 MESH:C563156 GARD:0003531 DOID:0060693 SCTID:718210003 ICD10:E70.8 OMIM:300615" +MONDO:0010379 "Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." "Orphanet:3057 UMLS:C0796275 MESH:C563156 GARD:0003531 DOID:0060693 SCTID:718210003 ICD10CM:E70.8 OMIM:300615" http://identifiers.org/hgnc/1343 MONDO:0020843 "Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae." "UMLS:C0012554 SCTID:7773002 NCIT:C34543 ICD9:032.81" UBERON:0006666 FOODON:03400289 "Food group having common consumption, functional or manufacturing characteristics, e.g. *FRUIT OR VEGETABLE PRODUCT*, *DAIRY PRODUCT*, *CONFECTIONARY*, *PREPARED FOOD PRODUCT*, etc. [FDA CFSAN 1995]"@en "http://www.langual.org/langual_thesaurus.asp?termid=A0289" MONDO:0009137 "MESH:C565610 OMIM:224250 UMLS:C1857143" UBERON:3011045 -MONDO:0600029 "Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough." "NCIT:C91762 UMLS:C0085581 ICD10CM:J98.4 SCTID:36485005" +MONDO:0600029 "Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough." "NCIT:C91762 UMLS:C0085581 SCTID:36485005" GO:1901856 "Any process that stops, prevents or reduces the frequency, rate or extent of cellular respiration." MONDO:0044240 "OBSOLETE. Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009})." "OMIM:159300" MONDO:0032855 "OMIM:618659" -MONDO:0016771 "Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion." "SCTID:720493003 GARD:0012676 Orphanet:254411 ICD10:L43.8 UMLS:C4304037" +MONDO:0016771 "Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion." "SCTID:720493003 GARD:0012676 Orphanet:254411 ICD10CM:L43.8 UMLS:C4304037" MONDO:0005514 "Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma." "OMIM:609549 OMIM:615972 Orphanet:35612 OMIM:611897 DOID:0080634 OMIM:600165 SCTID:716775009" MONDO:0034150 "Orphanet:558411" MONDO:0032854 "OMIM:618658" @@ -29295,13 +29275,13 @@ MONDO:0006144 "An embryonal neoplasm arising from the cervix with morphologic fe MONDO:0019086 "Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC)." "MedDRA:10030155 EFO:0002916 NCIT:C3513 UMLS:C0014859 Orphanet:70482 DOID:1107 UMLS:C0546837 UMLS:C0152018 SCTID:372138000" MONDO:0001283 "A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain." "UMLS:C0269106 SCTID:55850004 NCIT:C40121 DOID:11427" MONDO:0003999 "A pilocytic astrocytoma that occurs during adolescence." "DOID:6811 MESH:D001254 UMLS:C0280783 NCIT:C27081" -MONDO:0009670 "Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies." "DOID:0060559 MESH:C537194 Orphanet:1486 UMLS:C1854664 ICD10:Q68.8 OMIM:253310 SCTID:715418007 GARD:0003227" +MONDO:0009670 "Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies." "DOID:0060559 MESH:C537194 Orphanet:1486 UMLS:C1854664 ICD10CM:Q68.8 OMIM:253310 SCTID:715418007 GARD:0003227" GO:0050747 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids." GO:0080090 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism." UBERON:0005469 UBERON:0005203 -MONDO:0018438 "UMLS:CN226154 ICD10:K52.8 Orphanet:402029" -MONDO:0018084 "Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation." "ICD10:Q24.8 MedDRA:10048951 GARD:0005393 OMIM:107970 MESH:C536932 Orphanet:3403" +MONDO:0018438 "UMLS:CN226154 Orphanet:402029 ICD10CM:K52.8" +MONDO:0018084 "Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation." "ICD10CM:Q24.8 MedDRA:10048951 GARD:0005393 OMIM:107970 MESH:C536932 Orphanet:3403" CHR:9606-chr13q12.3 MONDO:0100326 "Orphanet:849 OMIMPS:273800" HP:0025634 "A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder." @@ -29309,12 +29289,12 @@ MONDO:0005702 "OBSOLETE. A subcutaneous mycosis that is a chronic subcutaneous f GO:0001810 "Any process that modulates the frequency, rate, or extent of type I hypersensitivity, a type of inflammatory response." MONDO:0032853 "OMIM:618655" MONDO:0004193 "A dysgerminoma that arises from the ovary and occurs in children." "DOID:7340 UMLS:C1332988 NCIT:C6550" -MONDO:0018690 "A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye." "Orphanet:454718 MESH:D000270 UMLS:C0001519 DOID:11549 OMIM:103100 NCIT:C34357 GARD:0005749 ICD10:H57.0 EFO:0004126 SCTID:24225004" +MONDO:0018690 "A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye." "Orphanet:454718 MESH:D000270 UMLS:C0001519 DOID:11549 OMIM:103100 NCIT:C34357 GARD:0005749 ICD10CM:H57.0 EFO:0004126 SCTID:24225004" CHEBI:15734 "A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it." -MONDO:0019899 "Orphanet:96152 ICD10:Q93.5" +MONDO:0019899 "ICD10CM:Q93.5 Orphanet:96152" MONDO:0014718 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene." "UMLS:C4225257 OMIM:616645 DOID:0080460" NCBITaxon:2732507 "GC_ID:1" -MONDO:0008521 "Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges." "SCTID:702312009 Orphanet:1412 EFO:0008965 OMIM:186400 UMLS:C1861305 ICD9:756.9 OMIM:186570 DOID:0050789 ICD10:Q74.8 GARD:0009225" +MONDO:0008521 "Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges." "SCTID:702312009 Orphanet:1412 EFO:0008965 OMIM:186400 UMLS:C1861305 ICD9:756.9 OMIM:186570 DOID:0050789 ICD10CM:Q74.8 GARD:0009225" MONDO:0024326 "A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma." "NCIT:C4499" GO:1904000 "Any process that activates or increases the frequency, rate or extent of eating behavior." MONDO:0700014 "Chromosomal disorder in which chromosome 7 is affected." @@ -29323,53 +29303,54 @@ UBERON:0005204 MONDO:0032857 "OMIM:618662" MONDO:0030458 "OMIM:619574" http://identifiers.org/hgnc/1349 -MONDO:0009895 "Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977." "MESH:C564880 ICD10:Q87.2 OMIM:263540 UMLS:C1849732 Orphanet:2916" +MONDO:0009895 "Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977." "MESH:C564880 OMIM:263540 ICD10CM:Q87.2 UMLS:C1849732 Orphanet:2916" MONDO:0006407 "A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen." "EFO:1000521 UMLS:C0334513 NCIT:C45655 DOID:4488" +MONDO:0017388 "A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation." "Orphanet:293208 UMLS:CN203119" MONDO:0100327 "OMIMPS:607748" http://identifiers.org/hgnc/1348 -MONDO:0014487 "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." "OMIM:616084 Orphanet:369861 ICD10:D64.0 UMLS:C4015172 DOID:0080209" +MONDO:0014487 "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." "OMIM:616084 Orphanet:369861 ICD10CM:D64.0 UMLS:C4015172 DOID:0080209" MONDO:0010381 "MESH:C562719 UMLS:C0272137 DOID:0080520 OMIM:300622" MONDO:0013348 "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene." "Orphanet:791 UMLS:C3150912 Orphanet:1872 OMIM:613660 DOID:0111021" -MONDO:0017237 "ICD10:G60.0 Orphanet:280598 UMLS:CN202738 OMIM:608895 GARD:0011010" +MONDO:0017237 "Orphanet:280598 UMLS:CN202738 ICD10CM:G60.0 OMIM:608895 GARD:0011010" GO:0070094 "Any process that activates or increases the frequency, rate or extent of the regulated release of glucagon." MONDO:0014356 "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene." "Orphanet:1460 DOID:0080116 OMIM:615824 UMLS:C4014408" MONDO:0100276 "A disease that has its basis in the disruption of peroxisome and mitochondrial fission." MONDO:0024502 "A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "UMLS:C3273115 NCIT:C96917" HsapDv:0000105 "Child stage that refers to a child who is over 11 and under 12 years old." http://identifiers.org/hgnc/4942 -MONDO:0007378 "A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23." "SCTID:29504002 Orphanet:98973 UMLS:CN029625 DOID:0110855 ICD9:371.58 OMIM:122000 ICD10:H18.50" +MONDO:0007378 "A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23." "SCTID:29504002 Orphanet:98973 UMLS:CN029625 DOID:0110855 ICD9:371.58 OMIM:122000" UBERON:0005205 ECTO:0000699 "An exposure to probe." -MONDO:0016039 "ICD9:238.8 Orphanet:199267 ICD10:M72.8 GARD:0008487 NCIT:C3456 HP:0025197 EFO:1000301 SCTID:399903008 UMLS:C1318562" +MONDO:0016039 "ICD9:238.8 ICD10CM:M72.8 Orphanet:199267 GARD:0008487 NCIT:C3456 HP:0025197 EFO:1000301 SCTID:399903008 UMLS:C1318562" ENVO:01000982 "A process during which a volume of water is transported due to a disequilibria in physical forces." UBERON:0007602 MONDO:0032856 -MONDO:0019006 "Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset." "UMLS:CN536255 OMIM:616220 SCTID:718141008 OMIM:616892 OMIM:613237 OMIM:616893 UMLS:C4273714 OMIM:256370 OMIM:607832 ICD10:N04.8 OMIM:616032 OMIM:603278 OMIM:616002 OMIM:600995 OMIM:614131 OMIM:603965 OMIM:615244 Orphanet:656 OMIM:615861 OMIM:614196 ICD10:N04.1 OMIM:610725 ICD10:N04.3 UMLS:C1868672 OMIM:615573 OMIM:616730" +MONDO:0019006 "Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset." "UMLS:CN536255 OMIM:616220 SCTID:718141008 ICD10CM:N04.1 OMIM:616892 OMIM:613237 OMIM:616893 UMLS:C4273714 OMIM:256370 OMIM:607832 OMIM:616032 ICD10CM:N04.8 OMIM:603278 ICD10CM:N04.3 OMIM:616002 OMIM:600995 OMIM:614131 OMIM:603965 OMIM:615244 Orphanet:656 OMIM:615861 OMIM:614196 OMIM:610725 UMLS:C1868672 OMIM:615573 OMIM:616730" http://identifiers.org/hgnc/609 GO:0015068 "Catalysis of the reaction: L-arginine + glycine = L-ornithine + guanidinoacetate." MONDO:0100328 "OMIMPS:614231" -MONDO:0007349 "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene." "OMIM:120100 Orphanet:47045 DOID:0090062 SCTID:238687000 UMLS:C0343068 ICD10:L50.2" +MONDO:0007349 "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene." "OMIM:120100 Orphanet:47045 DOID:0090062 SCTID:238687000 UMLS:C0343068" GO:0032410 "Any process that stops or reduces the activity of a transporter." UBERON:0003909 ENVO:01000743 "A process in which natural ecosystems present over an expanse of land are removed and replaced with anthropogenic ecosystems." MONDO:0010380 "GARD:0010222 UMLS:C1845094 OMIM:300619 MESH:C535345" GO:0097756 "OBSOLETE. Any process that decreases the diameter of blood vessels." -MONDO:0017238 "OMIM:613977 Orphanet:280615 ICD10:D58.2" +MONDO:0017238 "OMIM:613977 ICD10CM:D58.2 Orphanet:280615" MONDO:0004420 "A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast." "NCIT:C5180 DOID:7983 UMLS:C1334565" -MONDO:0001650 "An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain." "ICD10:N30.0 NCIT:C26934 UMLS:C0149523 SCTID:68226007 ICD9:595.0 DOID:13148" +MONDO:0001650 "An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain." "NCIT:C26934 UMLS:C0149523 ICD10CM:N30.0 SCTID:68226007 ICD9:595.0 DOID:13148" CL:0002313 "An ecto-epithelial cell of the prostate gland that secretes hormones." "FMA:74390 FMA:86774 CALOHA:TS-1280" UBERON:0008801 GO:2000241 "Any process that modulates the frequency, rate or extent of reproductive process." UBERON:0001507 UBERON:0003069 MONDO:0040797 "OBSOLETE. An outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS)." "UMLS:C0042376 SCTID:128187005 MESH:D014653" -MONDO:0020324 "Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis." "ICD10:C83.3 Orphanet:98839 NCIT:C4342 MedDRA:10069643 ICD9:202.80 SCTID:255102004 ONCOTREE:IVBCL ICDO:9712/3 UMLS:CN207146" -MONDO:0003040 "The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected." "DOID:4543 NCIT:C34372 ICD10:R41.2 MESH:D000648" +MONDO:0020324 "Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis." "ICD10CM:C83.3 Orphanet:98839 NCIT:C4342 MedDRA:10069643 ICD9:202.80 SCTID:255102004 ONCOTREE:IVBCL ICDO:9712/3 UMLS:CN207146" +MONDO:0003040 "The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected." "ICD10CM:R41.2 DOID:4543 NCIT:C34372 MESH:D000648" http://identifiers.org/hgnc/6493 MONDO:0006109 "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." "DOID:4486 ICDO:9053/3 EFO:1000124 UMLS:C0334515 NCIT:C4282" UBERON:0003902 NCBITaxon:13373 "PMID:16558776 GC_ID:11 PMID:1283774 PMID:12734250" -MONDO:0009901 "Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." "GARD:0004436 UMLS:C1849718 SCTID:722376008 MESH:C564874 ICD10:Q87.2 Orphanet:1234 OMIM:263650" +MONDO:0009901 "Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." "GARD:0004436 UMLS:C1849718 SCTID:722376008 MESH:C564874 Orphanet:1234 ICD10CM:Q87.2 OMIM:263650" CHEBI:51151 "An organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case." MONDO:0011200 "A focal dystonia characterized by predomiantly cervical dystonia that has material basis in variation in the chromosome region 18p." "Orphanet:93963 DOID:0090040 OMIM:602124 MESH:C566572" http://identifiers.org/hgnc/7690 @@ -29386,11 +29367,11 @@ CL:0008035 UBERON:0004000 UBERON:0006661 UBERON:0004266 -MONDO:0009292 "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases." "MedDRA:10053249 UMLS:CN204783 UMLS:C0017923 NCIT:C84737 OMIM:232500 GARD:0002520 UMLS:C1856303 Orphanet:367 ICD10:E74.0 DOID:2750 OMIM:263570 ICD10:E74.09 ICD9:277.6 UMLS:C1856305 SCTID:124267007 UMLS:C1856304" +MONDO:0009292 "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases." "MedDRA:10053249 UMLS:CN204783 UMLS:C0017923 NCIT:C84737 OMIM:232500 GARD:0002520 UMLS:C1856303 Orphanet:367 DOID:2750 OMIM:263570 ICD9:277.6 UMLS:C1856305 ICD10CM:E74.0 SCTID:124267007 UMLS:C1856304" MONDO:0023101 "GARD:0002226" MONDO:0003826 "An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors." "UMLS:C1334680 NCIT:C6812 DOID:6249" GO:0016331 "The process in which the anatomical structures of embryonic epithelia are generated and organized." -MONDO:0019910 "Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "ICD10:Q99.8 SCTID:766237006 Orphanet:96179" +MONDO:0019910 "Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "ICD10CM:Q99.8 SCTID:766237006 Orphanet:96179" UBERON:0003068 MONDO:0021516 "A benign neoplasm that involves the glottis." "UMLS:C0347234 NCIT:C4605 SCTID:92123007" MONDO:0024458 "A disease that involves the visual system." "SCTID:128127008" @@ -29401,7 +29382,7 @@ MONDO:0030457 "OMIM:619573" MONDO:0011281 "Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner." "Orphanet:98915 NCIT:C129304 Orphanet:590 OMIM:603034 MESH:C566415 UMLS:C1864233 DOID:0110667" MONDO:0021805 "GARD:0000505 MESH:C535659 UMLS:C2930969" MONDO:0002957 "NCIT:C38111 DOID:4303 UMLS:C1519182" -MONDO:0010729 "X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked." "OMIM:312840 UMLS:C1839320 GARD:0009288 ICD10:Q87.8 MESH:C536630 Orphanet:85285 SCTID:719010001" +MONDO:0010729 "X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked." "OMIM:312840 UMLS:C1839320 GARD:0009288 ICD10CM:Q87.8 MESH:C536630 Orphanet:85285 SCTID:719010001" MONDO:0002809 "A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas." "DOID:3918 NCIT:C4374 SCTID:235967003 UMLS:C0341486" MONDO:0024566 "OMIM:614418 UMLS:C3280734 Orphanet:165805 DOID:0111308" HP:0033725 "An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration)." @@ -29412,7 +29393,7 @@ HP:0000618 "Blindness is the condition of lacking visual perception defined as v MONDO:0030456 "OMIM:619566" MONDO:0002956 "NCIT:C27537 DOID:4302 SCTID:403912001 UMLS:C1275193" CL:0000098 "A specialized epithelial cell involved in sensory perception. Restricted to special sense organs of the olfactory, gustatory, and vestibulocochlear receptor systems; contain sensory cells surrounded by supportive, non-receptive cells." "BTO:0004301" -MONDO:0000889 "Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." "SCTID:192643004 ICD9:320.0 ICD10:G00.0 EFO:1000955 MESH:D008583 MedDRA:10018953 DOID:0080179 SCTID:5900006" +MONDO:0000889 "Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." "SCTID:192643004 ICD9:320.0 EFO:1000955 MESH:D008583 MedDRA:10018953 DOID:0080179 SCTID:5900006" GO:0045671 "Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation." UBERON:0004001 NCBITaxon:2732527 "GC_ID:1" @@ -29423,23 +29404,22 @@ MONDO:0023102 "GARD:0002227" CL:0002435 "A CD8-positive, CD4-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive." ENVO:00000194 "Broken rock that appears at the bottom of crags, mountain cliffs or valley shoulders." MONDO:0014981 "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene." "UMLS:C4310656 OMIM:617237" -MONDO:0001302 "Abnormal enlargement of the heart resulting from long-standing hypertension." "ICD10:I11 ICD9:402.9 SCTID:64715009 NCIT:C4907 ICD10:I11.9 UMLS:C0152105 ICD9:402 DOID:11516" +MONDO:0001302 "Abnormal enlargement of the heart resulting from long-standing hypertension." "ICD9:402.9 SCTID:64715009 NCIT:C4907 UMLS:C0152105 ICD9:402 DOID:11516" MONDO:0054680 "DOID:0070302 OMIM:617719" UBERON:0001509 GO:0046578 "Any process that modulates the frequency, rate or extent of Ras protein signal transduction." -MONDO:0012452 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3." "DOID:0110516 UMLS:C1853248 MESH:C565211 ICD10:H90.3 OMIM:610248" +MONDO:0012452 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3." "DOID:0110516 UMLS:C1853248 MESH:C565211 OMIM:610248" HP:0000522 "Absence of tear secretion." "UMLS:C0344505 MSH:C562827 SNOMEDCT_US:253215004" UBERON:0005200 MONDO:0000558 -MONDO:0007080 "Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." "NCIT:C123248 Orphanet:403 GARD:0002790 ICD9:255.11 ICD10:E26.02 UMLS:C3838731 MESH:C563177 DOID:14080 ICD10:E26.0 OMIM:103900 UMLS:C1260386" -MONDO:0016561 "1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." "Orphanet:238769 UMLS:C4304540 UMLS:CN201644 SCTID:719649004 ICD10:Q93.5 GARD:0010943" -MONDO:0017326 "A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis." "ICD10:L30.3 Orphanet:289347 NCIT:C129260 UMLS:CN202966" +MONDO:0007080 "Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." "NCIT:C123248 Orphanet:403 GARD:0002790 ICD10CM:E26.02 ICD9:255.11 UMLS:C3838731 ICD10CM:E26.0 MESH:C563177 DOID:14080 OMIM:103900 UMLS:C1260386" +MONDO:0016561 "1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." "Orphanet:238769 ICD10CM:Q93.5 UMLS:C4304540 UMLS:CN201644 SCTID:719649004 GARD:0010943" +MONDO:0017326 "A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis." "Orphanet:289347 NCIT:C129260 UMLS:CN202966 ICD10CM:L30.3" http://identifiers.org/hgnc/5293 MONDO:0030453 "OMIM:619561" GO:0047865 "Catalysis of the reaction: N,N-dimethylglycine + electron-transfer flavoprotein + H2O = sarcosine + formaldehyde + reduced electron-transfer flavoprotein." ENVO:01000320 "A marine environment and enviroment which is determined by a marine water body." UBERON:0004268 -MONDO:0000559 MONDO:0005947 "Pneumonia caused by infection with bacteria of the family rickettsiaceae." "MESH:D011022 UMLS:C0032307 SCTID:233621003 ICD9:484.8 EFO:0007472" MONDO:0012241 "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene." "MESH:C563747 OMIM:609286 Orphanet:254892 UMLS:C1836439 DOID:0111520" GO:0033089 "Any process that activates or increases the frequency, rate or extent of T cell differentiation in the thymus." @@ -29450,8 +29430,8 @@ UBERON:0001508 NCIT:C12664 MONDO:0005450 GO:0004351 "Catalysis of the reaction: L-glutamate = 4-aminobutanoate + CO2." -MONDO:0009803 "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive." "ICD10:Q78.0 OMIM:259410 MESH:C537558 Orphanet:2772 UMLS:C1850184" -MONDO:0005319 "A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken." "EFO:0003943 NCIT:C26795 SCTID:66308002 MESH:D006810" +MONDO:0009803 "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive." "OMIM:259410 MESH:C537558 Orphanet:2772 UMLS:C1850184 ICD10CM:Q78.0" +MONDO:0005319 "A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken." "EFO:0003943 SCTID:66308002 NCIT:C26795 MESH:D006810" MONDO:0000557 ENVO:03520007 "A water ice crystal which is constituted by water molecules aligned in a hexagonal array."@en MONDO:0003140 "Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function." "SCTID:123752003 UMLS:C0744421 NCIT:C35800 ICD9:583.89 DOID:4784" @@ -29460,28 +29440,28 @@ GO:0048534 "The process whose specific outcome is the progression of any organ i MONDO:0006872 "OBSOLETE. Allergic reaction to tree nuts that is triggered by the immune system." "SCTID:91934008 MESH:D021184 DOID:4379 UMLS:C0577620 EFO:1001066" MONDO:0023100 "GARD:0002220" MONDO:0030454 "OMIM:619562" -MONDO:0018248 "Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality." "UMLS:CN204818 Orphanet:369950 ICD10:Q87.8" +MONDO:0018248 "Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality." "UMLS:CN204818 ICD10CM:Q87.8 Orphanet:369950" GO:0050708 "Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell." UBERON:0004269 MONDO:0032851 "OMIM:618653" NCBITaxon:2732529 "GC_ID:1" http://identifiers.org/hgnc/6490 -MONDO:0018830 "Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease." "ICD10:I89.8 NCIT:C26867 MedDRA:10048640 MESH:D000796 Wikipedia:Kimura's_disease GARD:0006835 Orphanet:482 UMLS:C0033838 DOID:7365 EFO:1000722" +MONDO:0018830 "Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease." "NCIT:C26867 MedDRA:10048640 ICD10CM:I89.8 MESH:D000796 Wikipedia:Kimura's_disease GARD:0006835 Orphanet:482 UMLS:C0033838 DOID:7365 EFO:1000722" CHEBI:17245 "A one-carbon compound in which the carbon is joined only to a single oxygen. It is a colourless, odourless, tasteless, toxic gas." UBERON:0001769 HP:0031704 "Any functional anomaly of the ear." MONDO:0024569 "OMIM:616648 DOID:0111439 Orphanet:1215 UMLS:C4085249" MONDO:0000556 UBERON:0005460 -MONDO:0004335 "A disease or disorder that involves the digestive system." "DOID:77 SCTID:53619000 MESH:D005767 ICD9:520-579.99 EFO:0000405 ICD10:K92.9 NCIT:C2990 ICD9:V47.3" +MONDO:0004335 "A disease or disorder that involves the digestive system." "ICD9:V47.3 NCIT:C2990 DOID:77 ICD9:520-579.99 ICD10CM:K90-K95 ICD10CM:P76-P78 MESH:D005767 ICD10CM:K00-K95 SCTID:53619000 EFO:0000405" http://identifiers.org/hgnc/12362 -MONDO:0018979 "Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping." "UMLS:C0393847 GARD:0011011 SCTID:230591002 Orphanet:641 ICD9:357.89 ICD10:G61.8 ICD10:G61.82" -MONDO:0016532 "Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies." "GARD:0009912 OMIM:606369 DOID:0050561 ICD10:G40.4 MESH:D065768 OMIM:616346 UMLS:C0238111 Orphanet:2382 OMIM:615369 SCTID:230418006 MedDRA:10048816 OMIM:617113 NCIT:C84816" +MONDO:0018979 "Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping." "ICD10CM:G61.8 UMLS:C0393847 ICD10CM:G61.82 GARD:0011011 SCTID:230591002 Orphanet:641 ICD9:357.89" +MONDO:0016532 "Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies." "ICD10CM:G40.4 GARD:0009912 OMIM:606369 DOID:0050561 MESH:D065768 OMIM:616346 UMLS:C0238111 Orphanet:2382 OMIM:615369 SCTID:230418006 MedDRA:10048816 OMIM:617113 NCIT:C84816" MONDO:0010457 "Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat." "Orphanet:276432 GARD:0000188 HGNC:7645 DOID:0050781 OMIM:300855 UMLS:C3275447 MESH:C536107" -MONDO:0002800 "Inflammation of the veins associated with the presence of a thrombus." "SCTID:40283005 UMLS:C0040046 MESH:D013924 DOID:3875 ICD9:451.0 ICD10:I80.0 NCIT:C3410 ICD9:451.2" -MONDO:0001753 "ICD10:N97.2 DOID:13589 ICD9:628.3 SCTID:26899006" +MONDO:0002800 "Inflammation of the veins associated with the presence of a thrombus." "SCTID:40283005 UMLS:C0040046 ICD10CM:I80.0 MESH:D013924 DOID:3875 ICD9:451.0 NCIT:C3410 ICD9:451.2" +MONDO:0001753 "DOID:13589 ICD10CM:N97.2 ICD9:628.3 SCTID:26899006" MONDO:0010452 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene." "OMIM:300850 UMLS:C3275443" -MONDO:0014493 "A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V." "NCIT:C126341 UMLS:C4015214 Orphanet:436159 OMIM:616100 ICD10:D47.9 GARD:0012316" +MONDO:0014493 "A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V." "NCIT:C126341 UMLS:C4015214 Orphanet:436159 OMIM:616100 ICD10CM:D47.9 GARD:0012316" UBERON:0004262 GO:0044452 "OBSOLETE. Any constituent part of a nucleolus, a small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis." UBERON:0001768 @@ -29500,25 +29480,25 @@ MONDO:0004259 "A carcinoma that arises from epithelial cells of the endocervix." http://identifiers.org/hgnc/12363 MONDO:0014903 "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene." "UMLS:C4310728 OMIM:617080" UBERON:0000307 -MONDO:0017896 "Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." "UMLS:CN227216 OMIMPS:188550 Orphanet:319494 UMLS:C3501843 ICD10:C73" +MONDO:0017896 "Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting." "UMLS:CN227216 ICD10CM:C73 OMIMPS:188550 Orphanet:319494 UMLS:C3501843" UBERON:0004263 MONDO:0044751 "Chronic form of diarrheal disease." "UMLS:C0401151 SCTID:236071009" MONDO:0023106 "MESH:C536393" MONDO:0020606 "SCTID:82852009 ICD9:758.81" -MONDO:0019617 "SCTID:715668008 UMLS:C4275064 Orphanet:91354 ICD10:E23.0 UMLS:CN206468" +MONDO:0019617 "ICD10CM:E23.0 SCTID:715668008 UMLS:C4275064 Orphanet:91354 UMLS:CN206468" NCBITaxon:37567 "GC_ID:1" MONDO:0003049 "A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor." "NCIT:C5238 UMLS:C1335174 DOID:4555" http://identifiers.org/hgnc/25507 GO:0045834 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids." GO:0042398 "The chemical reactions and pathways resulting in the formation of compounds derived from amino acids, organic acids containing one or more amino substituents." -MONDO:0019727 "Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs." "UMLS:CN206634 Orphanet:93555 ICD10:D89.1" +MONDO:0019727 "Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs." "UMLS:CN206634 ICD10CM:D89.1 Orphanet:93555" UBERON:0005462 UBERON:0003067 HP:0000759 "A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system)." "SNOMEDCT_US:42658009 UMLS:C0031117 SNOMEDCT_US:302226006 UMLS:C4025831 MSH:D010523" MONDO:0001186 "A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality." "ICD9:300.6 DOID:11038 NCIT:C94331 GARD:0006260 SCTID:70764005" UBERON:0000304 -MONDO:0013770 "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene." "UMLS:C3280943 OMIM:614475 DOID:0110114 Orphanet:1478 ICD10:Q21.1" -MONDO:0014673 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene." "ICD10:Q12.0 DOID:0110267 OMIM:616509 Orphanet:91492 UMLS:C4225300 Orphanet:98994" +MONDO:0013770 "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene." "UMLS:C3280943 OMIM:614475 DOID:0110114 Orphanet:1478" +MONDO:0014673 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene." "DOID:0110267 OMIM:616509 Orphanet:91492 UMLS:C4225300 Orphanet:98994" UBERON:0004264 CL:0000785 "A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen." NCBITaxon:203692 "GC_ID:11 PMID:26654112 PMID:25288668 PMID:11837318" @@ -29528,7 +29508,7 @@ GO:0015874 "The directed movement of norepinephrine into, out of or within a cel GO:0045165 "The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field." GO:0001508 "A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities." UBERON:0005463 -MONDO:0019908 "Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists." "UMLS:CN035931 GARD:0001328 SCTID:763405000 ICD10:Q93.2 MESH:C538035 Orphanet:96177" +MONDO:0019908 "Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists." "UMLS:CN035931 ICD10CM:Q93.2 GARD:0001328 SCTID:763405000 MESH:C538035 Orphanet:96177" http://identifiers.org/hgnc/26703 UBERON:0003066 CL:0002437 "A mature CD8-positive, CD4-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor." @@ -29538,10 +29518,10 @@ UBERON:0004265 MONDO:0020608 "OMIM:110350" GO:0004737 "Catalysis of the reaction: a 2-oxo acid = an aldehyde + CO2." NCBITaxon:2732525 "GC_ID:1" -MONDO:0006947 "High blood pressure secondary to renal artery stenosis." "UMLS:C0020545 ICD9:405.91 ICD10:I15.0 EFO:1001153 HP:0100817 NCIT:C85044 SCTID:123799005 DOID:1591" -MONDO:0019619 "Orphanet:91357 ICD10:Q39.8" +MONDO:0006947 "High blood pressure secondary to renal artery stenosis." "ICD10CM:I15.0 ICD9:405.91 EFO:1001153 HP:0100817 NCIT:C85044 SCTID:123799005 DOID:1591 UMLS:C0020545" +MONDO:0019619 "ICD10CM:Q39.8 Orphanet:91357" http://identifiers.org/hgnc/8896 -MONDO:0017481 "Orphanet:295059 ICD10:Q72.0" +MONDO:0017481 "Orphanet:295059 ICD10CM:Q72.0" MONDO:0019749 "OBSOLETE. Any of the forms of kidney neoplasm that have a rare incidence." "Orphanet:93619" http://identifiers.org/hgnc/6235 MONDO:0005457 @@ -29553,29 +29533,29 @@ http://identifiers.org/hgnc/7698 http://identifiers.org/hgnc/7432 GO:1904364 "Any process that activates or increases the frequency, rate or extent of calcitonin secretion." GO:0060255 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass." -MONDO:0019359 "Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline)." "GARD:0007585 Orphanet:83311 NCIT:C128410 DOID:0050052 ICD10:A77.0 SCTID:186772009 MedDRA:10039207 UMLS:C0035793 MESH:D012373" +MONDO:0019359 "Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline)." "GARD:0007585 Orphanet:83311 NCIT:C128410 DOID:0050052 SCTID:186772009 MedDRA:10039207 UMLS:C0035793 MESH:D012373" MONDO:0012798 "MESH:C567420 UMLS:C2677512 OMIM:612097" ENVO:03000008 "A physical process during which atoms, molecules, or other consituents of a material entity are forced closer together." UBERON:0001764 CL:0002102 "A CD38-negative naive B cell is a mature B cell that has the phenotype CD38-negative, surface IgD-positive, surface IgM-positive, and CD27-negative, that has not yet been activated by antigen in the periphery." HP:0006487 "A bending or abnormal curvature of a long bone." "UMLS:C1855340" -MONDO:0015086 "ICD10:Q87.5 Orphanet:100978 UMLS:CN197384 GARD:0000853" -MONDO:0019196 "Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years." "ICD10:G37.4 Orphanet:79093 SCTID:230379007 ICD9:323.9 UMLS:CN205776" +MONDO:0015086 "ICD10CM:Q87.5 Orphanet:100978 UMLS:CN197384 GARD:0000853" +MONDO:0019196 "Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years." "Orphanet:79093 SCTID:230379007 ICD10CM:G37.4 ICD9:323.9 UMLS:CN205776" http://identifiers.org/hgnc/5037 -MONDO:0009547 "Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989." "UMLS:C1855467 GARD:0000177 MESH:C537830 OMIM:248110 Orphanet:2432 ICD10:Q87.0" +MONDO:0009547 "Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989." "UMLS:C1855467 GARD:0000177 MESH:C537830 OMIM:248110 Orphanet:2432 ICD10CM:Q87.0" GO:1903054 "Any process that stops, prevents or reduces the frequency, rate or extent of extracellular matrix organization." CL:0000365 "Diploid cell produced by the fusion of sperm cell nucleus and egg cell." "BTO:0000854 EHDAA2:0004546 FMA:72395" MONDO:0012532 "MESH:C565691 OMIM:610655 Orphanet:774 GARD:0010615" UBERON:0018649 -MONDO:0017482 "Orphanet:295061 ICD10:Q71.8" +MONDO:0017482 "ICD10CM:Q71.8 Orphanet:295061" MONDO:0007853 "OMIM:148360 MESH:C536153 Orphanet:2201 Orphanet:538574" MONDO:0045051 "A cataract (disease) that involves the lens cortex." "SCTID:193576003 ICD9:366.03" MONDO:0005456 MONDO:0001632 "Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis." "MESH:D002537 DOID:13097 UMLS:C0007771" MONDO:0006200 "A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." "NCIT:C35780 UMLS:C1333422 DOID:7040 EFO:1000244" UBERON:0003060 -MONDO:0019179 "Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children." "MESH:C579873 UMLS:C3711390 Orphanet:77301 ICD10:Q93.5 SCTID:724098008" -MONDO:0013731 "GARD:0012199 UMLS:C3280679 DOID:0111333 ICD10:G71.2 Orphanet:98920 Orphanet:439212 OMIM:614399" +MONDO:0019179 "Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children." "MESH:C579873 UMLS:C3711390 ICD10CM:Q93.5 Orphanet:77301 SCTID:724098008" +MONDO:0013731 "GARD:0012199 UMLS:C3280679 DOID:0111333 ICD10CM:G71.2 Orphanet:98920 Orphanet:439212 OMIM:614399" MONDO:0019512 "A disease that has its basis in the disruption of heart development." "OMIM:306955 OMIM:614980 Orphanet:88991 EFO:0005269" http://identifiers.org/hgnc/888 MONDO:0020640 "Inflammation of the brain secondary to an immune response triggered by the body itself." "SCTID:95643007 GARD:0011979 NCIT:C122414" @@ -29583,17 +29563,17 @@ UBERON:0001763 GO:0050673 "The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances." ENVO:01001053 "An environmental system which has its properties and dynamics determined by a saline aerosol." MONDO:0008021 "Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene." "UMLS:CN072330 Orphanet:65285 UMLS:C0018553 Orphanet:2969 OMIM:158350 Orphanet:201" -MONDO:0015811 "Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared." "ICD10:C84.4 Orphanet:178528 SCTID:765136002" +MONDO:0015811 "Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared." "Orphanet:178528 ICD10CM:C84.4 SCTID:765136002" MONDO:0009226 "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene." "OMIM:228520 UMLS:C3278138 Orphanet:2021" NCBITaxon:203691 "GC_ID:11 PMID:11837318 PMID:26654112 PMID:29458499" -MONDO:0012099 "AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." "UMLS:C1837530 OMIM:608688 UMLS:C4510943 ICD10:E79.8 Orphanet:250977 SCTID:725289009 MESH:C563876" +MONDO:0012099 "AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." "UMLS:C1837530 OMIM:608688 UMLS:C4510943 ICD10CM:E79.8 Orphanet:250977 SCTID:725289009 MESH:C563876" GO:0140014 "A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell." MONDO:0012533 "OMIM:610676" -MONDO:0016258 "An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component." "ICD10:C54.0 NCIT:C40182 UMLS:C1883485 ICD10:C54.8 ICDO:8934/3 Orphanet:213605 ICD10:C54.2 ICD10:C54.1 ICD10:C54.3" +MONDO:0016258 "An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component." "ICD10CM:C54.8 NCIT:C40182 UMLS:C1883485 ICD10CM:C54.2 ICDO:8934/3 Orphanet:213605 ICD10CM:C54.3 ICD10CM:C54.0 ICD10CM:C54.1" http://identifiers.org/hgnc/6233 CL:0000115 "An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm." "FMA:66772 CALOHA:TS-0278 BTO:0001176" -MONDO:0007739 "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." "MedDRA:10070668 DOID:12858 KEGG:05016 GARD:0006677 SCTID:58756001 ICD9:333.4 ICD10:G10 OMIM:143100 NCIT:C82342 Orphanet:399 Orphanet:248111 UMLS:C0020179" -MONDO:0010805 "Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." "NCIT:C123207 UMLS:C1838703 OMIM:600057 Orphanet:93930 UMLS:C0005689 GARD:0006398 ICD10:Q64.1 ICD9:753.5 HP:0002836 SCTID:61758007 Orphanet:322 DOID:0080174" +MONDO:0007739 "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." "MedDRA:10070668 DOID:12858 KEGG:05016 GARD:0006677 SCTID:58756001 ICD9:333.4 ICD10CM:G10-G14 OMIM:143100 NCIT:C82342 Orphanet:399 Orphanet:248111 UMLS:C0020179" +MONDO:0010805 "Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." "NCIT:C123207 UMLS:C1838703 OMIM:600057 Orphanet:93930 UMLS:C0005689 GARD:0006398 ICD9:753.5 HP:0002836 SCTID:61758007 Orphanet:322 DOID:0080174" UBERON:0003063 CHEBI:50996 "A compound formally derived from ammonia by replacing three hydrogen atoms by organyl groups." PATO:0001414 "A physical quality inhering in a catalyst by virtue of the amount of the catalyst's action." @@ -29606,29 +29586,29 @@ GO:0044062 "Any process that modulates the frequency, rate, or extent of excreti UBERON:0010150 UBERON:0001500 ENVO:03000055 "A desublimation process during which water vapour is frozen into water ice." -MONDO:0006553 "Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants." "MESH:D005588 GARD:0006462 ICD10:L75.2 Wikipedia:Fox-Fordyce_disease EFO:1000703 SCTID:65038009 ICD9:705.82 DOID:1381 UMLS:C0016632 NCIT:C84716" +MONDO:0006553 "Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants." "ICD10CM:L75.2 MESH:D005588 GARD:0006462 Wikipedia:Fox-Fordyce_disease EFO:1000703 SCTID:65038009 ICD9:705.82 DOID:1381 UMLS:C0016632 NCIT:C84716" UBERON:0001766 CHR:9606-chr12p12 UBERON:0004260 -MONDO:0012376 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2." "MESH:C538203 ICD10:H90.3 OMIM:609952 DOID:0110510 GARD:0009919" +MONDO:0012376 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2." "MESH:C538203 OMIM:609952 DOID:0110510 GARD:0009919" CL:1001430 "KUPO:0001124" MONDO:0004058 "A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells." "DOID:6977 ICD9:259.3 NCIT:C3488 SCTID:39998009" -MONDO:0017480 "Orphanet:295057 ICD10:Q72.0" +MONDO:0017480 "Orphanet:295057 ICD10CM:Q72.0" MONDO:0015083 "Orphanet:100932" GO:0001803 "Any process that modulates the frequency, rate, or extent of type III hypersensitivity, a type of inflammatory response." MONDO:0002485 "A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare." "NCIT:C5169 UMLS:C1332635 DOID:3009" -MONDO:0014098 "OMIM:615238 DOID:0070203 Orphanet:435651 ICD10:E88.1 UMLS:C3808940 GARD:0013125" +MONDO:0014098 "OMIM:615238 DOID:0070203 Orphanet:435651 UMLS:C3808940 ICD10CM:E88.1 GARD:0013125" MONDO:0005458 MONDO:0013733 "OMIM:614401" MONDO:0007855 "MESH:C567190 UMLS:C2675099 OMIM:148390" CHEBI:22160 "Compounds with the general formula RNHC(=O)CH3." -MONDO:0006806 "Inflammation of the pars plana." "MedDRA:10022557 EFO:1000986 ICD10:H30.2 MESH:D015867 NCIT:C35110 SCTID:314429009 UMLS:C0042166 HP:0012124 DOID:12732 Orphanet:279914" +MONDO:0006806 "Inflammation of the pars plana." "MedDRA:10022557 EFO:1000986 MESH:D015867 NCIT:C35110 SCTID:314429009 UMLS:C0042166 HP:0012124 DOID:12732 ICD10CM:H30.2 Orphanet:279914" GO:0072363 "OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter." MONDO:0006923 "Infections with bacteria of the family bacillaceae." "UMLS:C0085389 EFO:1001124 MESH:D016863" MONDO:0001324 "A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction." "MESH:D017588 SCTID:237793004 UMLS:C0206081 DOID:11613 EFO:0009006" NCBITaxon:36362 "GC_ID:1" http://identifiers.org/hgnc/886 -MONDO:0008875 "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive." "GARD:0000905 SCTID:717914000 ICD10:Q87.8 Orphanet:2057 OMIM:210745 MESH:C536235" +MONDO:0008875 "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive." "GARD:0000905 SCTID:717914000 ICD10CM:Q87.8 Orphanet:2057 OMIM:210745 MESH:C536235" http://identifiers.org/hgnc/620 MONDO:0043541 "Conjunctivitis resulting from viral infection." "UMLS:C0009774 NCIT:C34509 SCTID:45261009 MESH:D003236" UBERON:0010151 @@ -29636,24 +29616,24 @@ MONDO:0008597 "A trichorhinophalangeal syndrome caused by mutations in TRPS1 cha MONDO:0012535 "OMIM:610680 UMLS:C1853187 GARD:0010055 MESH:C538328" NCBITaxon:30005 "GC_ID:1" UBERON:0001765 -MONDO:0009369 "Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders." "Orphanet:363999 Orphanet:163596 NCIT:C111905 Orphanet:1041 ICD9:778.0 UMLS:C0455988 ICD10:P56.9 OMIM:236750 EFO:0009051 ICD10:P83.2 SCTID:276509008" +MONDO:0009369 "Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders." "Orphanet:363999 ICD10CM:P56.9 Orphanet:163596 NCIT:C111905 Orphanet:1041 ICD9:778.0 ICD10CM:P83.2 UMLS:C0455988 OMIM:236750 EFO:0009051 SCTID:276509008" MONDO:0014949 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene." "OMIM:617166 DOID:0080425 UMLS:C4310685" MFOMD:0000004 "Clinically significant behavioural and/or cognitive pathology." "SNOMEDCT_2010_1_31:154971002 SNOMEDCT_2010_1_31:192637001 ICD9CM:290-319.99 SNOMEDCT_2010_1_31:154972009 SNOMEDCT_2010_1_31:154843007 SNOMEDCT_2010_1_31:74732009 MSH:D001523 UMLS_CUI:C0004936 NCI:C2893 SNOMEDCT_2010_1_31:192639003 SNOMEDCT_2010_1_31:154980002" CL:1001431 "KUPO:0001128" -MONDO:0010806 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene." "DOID:0110403 MESH:C564008 GARD:0010388 OMIM:600059 ICD10:H35.5 UMLS:C1838702" +MONDO:0010806 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene." "DOID:0110403 MESH:C564008 GARD:0010388 OMIM:600059 UMLS:C1838702" UBERON:0004261 MONDO:0014984 "UMLS:C4310653 OMIM:617241" GO:0043129 "Any process involved in the maintenance of a steady-state level of the surface-active lipoprotein mixture which coats the alveoli." MONDO:0015082 "Orphanet:1006" http://identifiers.org/hgnc/6231 MONDO:0100000 "An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity." -MONDO:0007864 "Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb." "NCIT:C84801 OMIM:149000 ICD10:Q87.2 MESH:D007715 OMIM:608355 Orphanet:2346 UMLS:CN201567 UMLS:C0022739 MedDRA:10051452 DOID:2926 SCTID:721105004 Orphanet:90308 EFO:0007334 GARD:0003122" +MONDO:0007864 "Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb." "NCIT:C84801 OMIM:149000 MESH:D007715 OMIM:608355 Orphanet:2346 UMLS:CN201567 UMLS:C0022739 MedDRA:10051452 DOID:2926 SCTID:721105004 Orphanet:90308 EFO:0007334 ICD10CM:Q87.2 GARD:0003122" MONDO:0011690 "Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder." "GARD:0008748 MESH:C537978 UMLS:C2931683 OMIM:606631" http://identifiers.org/hgnc/5033 MONDO:0021537 "A undifferentiated carcinoma that involves the nasopharynx." "NCIT:C8023 UMLS:C0279748 SCTID:422541001" HP:0000234 "An abnormality of the head." "UMLS:C4021812" UBERON:0010152 -MONDO:0017580 "11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities." "ICD10:Q92.3 UMLS:CN203376 Orphanet:300305" +MONDO:0017580 "11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities." "UMLS:CN203376 Orphanet:300305" UBERON:0001760 MONDO:0019394 "Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child." "UMLS:CN206093 OMIM:616217 OMIM:613550 Orphanet:84081 SCTID:717187000" MONDO:0015081 "UMLS:CN197376 Orphanet:100101" @@ -29661,36 +29641,36 @@ HP:0002087 "An abnormality of the upper respiratory tract." "UMLS:C4025727" http://identifiers.org/hgnc/20603 NCBITaxon:66225 "GC_ID:1" CL:1000493 "A mesothelial cell that is part of the visceral pleura." "FMA:86739" -MONDO:0010367 "SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never." "Orphanet:314795 MESH:C564479 EFO:0008989 ICD10:Q87.1 SCTID:763868006 OMIM:300582" +MONDO:0010367 "SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never." "Orphanet:314795 MESH:C564479 EFO:0008989 SCTID:763868006 ICD10CM:Q87.1 OMIM:300582" MONDO:0008099 "Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene." "OMIM:163500 Orphanet:215 UMLS:C1876182 DOID:0110863 MESH:C566869" CL:1000497 "KUPO:0001010" -MONDO:0006829 "A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear." "ICD10:D72.823 NCIT:C3185 MedDRA:10024373 EFO:1001014 ICD9:288.8 SCTID:56478004 MESH:D007955 UMLS:C0023501 ICD9:288.62" +MONDO:0006829 "A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear." "NCIT:C3185 MedDRA:10024373 EFO:1001014 ICD9:288.8 SCTID:56478004 MESH:D007955 UMLS:C0023501 ICD9:288.62 ICD10CM:D72.823" MONDO:0011600 "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13." "UMLS:C1853949 OMIM:605809 Orphanet:590 DOID:0110678" MONDO:0012537 "Orphanet:3329 UMLS:C1853156 MESH:C565199 OMIM:610685" MONDO:0004254 "DOID:7512 NCIT:C7365 UMLS:C1333626" http://identifiers.org/hgnc/28261 MONDO:0003387 "A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells." "DOID:5307 UMLS:C1336886 NCIT:C6172" -MONDO:0010172 "VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association." "Orphanet:3412 OMIM:314390 ICD10:Q87.8 OMIM:276950 UMLS:C1848599 GARD:0000272" +MONDO:0010172 "VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association." "Orphanet:3412 OMIM:314390 OMIM:276950 UMLS:C1848599 ICD10CM:Q87.8 GARD:0000272" MONDO:0012408 "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene." "OMIM:610092 Orphanet:98938 UMLS:C1864721" MONDO:0015080 MONDO:0005455 MONDO:0002958 "DOID:4304 UMLS:C1519320 NCIT:C38110" -MONDO:0005918 "Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor." "DOID:11060 MESH:D010923 EFO:0007442 SCTID:36813001 NCIT:C26858 ICD10:O44" -MONDO:0009461 "Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy)." "UMLS:C0403812 GARD:0012385 ICD10:N46 MESH:C562903 OMIM:243060 DOID:0070183 Orphanet:137893 SCTID:236806004 Orphanet:399808" +MONDO:0005918 "Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor." "DOID:11060 MESH:D010923 EFO:0007442 SCTID:36813001 NCIT:C26858" +MONDO:0009461 "Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy)." "UMLS:C0403812 GARD:0012385 ICD10CM:N46 MESH:C562903 OMIM:243060 DOID:0070183 Orphanet:137893 SCTID:236806004 Orphanet:399808" MONDO:0100433 "A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets." -MONDO:0009203 "Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." "ICD10:Q82.8 OMIM:227260 Orphanet:1807 SCTID:403771007 GARD:0000121 Orphanet:398166" +MONDO:0009203 "Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis." "ICD10CM:Q82.8 OMIM:227260 Orphanet:1807 SCTID:403771007 GARD:0000121 Orphanet:398166" http://identifiers.org/hgnc/5031 HP:0011420 "The age group when the cessation of life happens." "UMLS:C1546180" GO:0009309 "The chemical reactions and pathways resulting in the formation of any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom." MONDO:0024560 "OMIM:607411 Orphanet:466729" -MONDO:0002083 "Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm." "DOID:1703 ICD10:C91.1 SCTID:277550009 NCIT:C35424 GARD:0007578 UMLS:C0349631" -MONDO:0014768 "Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene." "UMLS:C4225211 ICD10:F01.1 OMIM:616779 DOID:0111036" -MONDO:0006658 "The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia." "DOID:5162 MESH:D050379 NCIT:C35543 EFO:1000819 ICD10:I70 UMLS:C0878486" +MONDO:0002083 "Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm." "DOID:1703 SCTID:277550009 NCIT:C35424 GARD:0007578 UMLS:C0349631" +MONDO:0014768 "Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene." "UMLS:C4225211 OMIM:616779 DOID:0111036" +MONDO:0006658 "The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia." "DOID:5162 MESH:D050379 NCIT:C35543 EFO:1000819 UMLS:C0878486 ICD10CM:I70" http://identifiers.org/hgnc/6494 MONDO:0018840 "A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts." "SCTID:79607001 NCIT:C97071 ICD9:777.8 Orphanet:485426 UMLS:C0009714 GARD:0006168 MESH:C562378" http://identifiers.org/hgnc/24564 -MONDO:0001615 "Keratoconjunctivitis resulting from infection by adenoviruses." "SCTID:60548004 NCIT:C34590 ICD10:B30.0 ICD9:077.1 DOID:13014 UMLS:C0014493" -MONDO:0009887 "A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis." "Orphanet:98852 DOID:0050158 ICD10:J84.1 ICD9:516.37 SCTID:8549006 ICD10:J84.115 ICD10:J84.117 ICD9:516.34 NCIT:C35288 OMIM:263000 MESH:C562470 UMLS:C0238378" +MONDO:0001615 "Keratoconjunctivitis resulting from infection by adenoviruses." "SCTID:60548004 NCIT:C34590 ICD9:077.1 DOID:13014 UMLS:C0014493" +MONDO:0009887 "A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis." "Orphanet:98852 DOID:0050158 ICD9:516.37 SCTID:8549006 ICD10CM:J84.1 ICD9:516.34 NCIT:C35288 OMIM:263000 MESH:C562470 UMLS:C0238378" HP:0002475 "Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column." "SNOMEDCT_US:203994003 UMLS:C0025312 MSH:D008591 SNOMEDCT_US:414667000 Fyler:4309" MONDO:0014980 "OMIMPS:617236 UMLS:C4310657 EFO:0009151" MONDO:0013768 "Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene." "Orphanet:51608 UMLS:C3276161 OMIM:614473" @@ -29701,22 +29681,22 @@ http://identifiers.org/hgnc/882 http://identifiers.org/hgnc/25763 MONDO:0000967 "A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones." "NCIT:C27530 UMLS:C1333059 DOID:10193" GO:0043228 "Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes." -MONDO:0018421 "Orphanet:401830 ICD10:G11.4 UMLS:CN226128" +MONDO:0018421 "ICD10CM:G11.4 Orphanet:401830 UMLS:CN226128" http://identifiers.org/hgnc/4931 http://identifiers.org/hgnc/2536 UBERON:0035545 MONDO:0006636 "Infections with bacteria of the genus actinobacillus." "EFO:1000793 MESH:D000189" MONDO:0011593 "Orphanet:306 OMIM:605751 MESH:C565296 UMLS:C1853995" CL:1001428 "KUPO:0001121" -MONDO:0011085 "Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported." "GARD:0003973 OMIM:601455 UMLS:C1832334 DOID:0110186 Orphanet:99950 SCTID:715798007 MESH:C535716 ICD10:G60.0" +MONDO:0011085 "Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported." "GARD:0003973 OMIM:601455 UMLS:C1832334 DOID:0110186 Orphanet:99950 ICD10CM:G60.0 SCTID:715798007 MESH:C535716" MONDO:0044843 "SCTID:431034009" HP:0100871 "An abnormality of the palm, that is, of the front of the hand." "UMLS:C4021948" http://identifiers.org/hgnc/1339 -MONDO:0006362 "A benign or malignant mesothelial neoplasm that arises from the peritoneum." "SCTID:109853004 NCIT:C7633 EFO:1000467 ICD10:C45.1 ONCOTREE:PEMESO HP:0100003" +MONDO:0006362 "A benign or malignant mesothelial neoplasm that arises from the peritoneum." "SCTID:109853004 NCIT:C7633 EFO:1000467 ONCOTREE:PEMESO HP:0100003" MONDO:0015928 "UMLS:CN200522 Orphanet:182104" HP:0033836 "An anomalous structure of an artery located in the kidney." http://identifiers.org/hgnc/3999 -MONDO:0017489 "Orphanet:295075 ICD10:Q71.5" +MONDO:0017489 "ICD10CM:Q71.5 Orphanet:295075" PATO:0000498 "A duration quality of a process which is relatively high." GO:0005773 "A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol." MONDO:0020871 "Orphanet:623" @@ -29724,65 +29704,65 @@ MONDO:0000405 "A malignant neoplasm involving the anal canal" "SCTID:363352004 I http://identifiers.org/hgnc/4932 MONDO:0005153 "An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type." "NCIT:C4029 ONCOTREE:CEAD SCTID:254887002 OMIM:603956 EFO:0001416 DOID:3702" HP:0008070 "Reduced density of hairs." "MSH:D007039 UMLS:C1860844 UMLS:C1837770 MEDDRA:10021126 SNOMEDCT_US:56558005 UMLS:C0020678 SNOMEDCT_US:53602002" -MONDO:0018688 "EFO:0008597 UMLS:CN237754 ICD10:L12.8 Orphanet:454710" +MONDO:0018688 "EFO:0008597 ICD10CM:L12.8 UMLS:CN237754 Orphanet:454710" MONDO:0011592 "Orphanet:891 DOID:0111409 UMLS:C1854002 OMIM:605750 MESH:C565297" -MONDO:0015927 "Orphanet:182101 UMLS:C3872845 SCTID:708031000 ICD10:J82" -MONDO:0019944 "Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH." "GARD:0006323 MedDRA:10058554 Orphanet:97214 UMLS:C0013743 NCIT:C84390 MESH:D004541 ICD10:I27.2 SCTID:445928005" +MONDO:0015927 "Orphanet:182101 UMLS:C3872845 SCTID:708031000 ICD10CM:J82" +MONDO:0019944 "Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH." "GARD:0006323 ICD10CM:I27.2 MedDRA:10058554 Orphanet:97214 UMLS:C0013743 NCIT:C84390 MESH:D004541 SCTID:445928005" http://identifiers.org/hgnc/15954 -MONDO:0015977 "A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes." "OMIM:613506 DOID:2583 OMIM:615214 OMIM:613501 NCIT:C26931 MESH:D000361 ICD9:279.00 GARD:0007455 Orphanet:183669 ICD10:D80.1 OMIM:613502 OMIM:601495 MedDRA:10001471 OMIM:612692 OMIMPS:601495 OMIM:613500" +MONDO:0015977 "A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes." "OMIM:613506 DOID:2583 OMIM:615214 OMIM:613501 NCIT:C26931 MESH:D000361 ICD9:279.00 GARD:0007455 Orphanet:183669 OMIM:613502 OMIM:601495 MedDRA:10001471 OMIM:612692 OMIMPS:601495 OMIM:613500" MONDO:0007849 "MESH:C563650 UMLS:C1835697 OMIM:148200" CL:0002003 "An erythroid progenitor cell that is CD34-positive and is GlyA-negative." "FMA:83517" MONDO:0010394 "OMIM:300660" -MONDO:0011660 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." "GARD:0009167 OMIM:606346 MESH:C538197 DOID:0110552 Orphanet:90635 ICD10:H90.3" -MONDO:0010428 "A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." "ICD10:Q99.8 GARD:0012766 Orphanet:217377 SCTID:721881008 OMIM:300801 DOID:0060461 MESH:C567585" +MONDO:0011660 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." "GARD:0009167 OMIM:606346 MESH:C538197 DOID:0110552 Orphanet:90635" +MONDO:0010428 "A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." "ICD10CM:Q99.8 GARD:0012766 Orphanet:217377 SCTID:721881008 OMIM:300801 DOID:0060461 MESH:C567585" GO:0071495 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism." -MONDO:0011655 "An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh." "UMLS:C0279544 ICDO:9581/3 HP:0012218 NCIT:C7943 UMLS:C0206657 SCTID:404056007 ICD10:C49.9 DOID:4239 ONCOTREE:ASPS ICD9:171.9 NCIT:C3750 GARD:0005654 MedDRA:10001882 Orphanet:163699 EFO:0007143 OMIM:606243 MESH:D018234" +MONDO:0011655 "An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh." "UMLS:C0279544 ICDO:9581/3 HP:0012218 NCIT:C7943 UMLS:C0206657 SCTID:404056007 ICD10CM:C49.9 DOID:4239 ONCOTREE:ASPS ICD9:171.9 NCIT:C3750 GARD:0005654 MedDRA:10001882 Orphanet:163699 EFO:0007143 OMIM:606243 MESH:D018234" MONDO:0011216 "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene." "DOID:0111027 Orphanet:79230 OMIM:602390" http://identifiers.org/hgnc/4933 MONDO:0100111 "A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed." "OMIM:619428" MONDO:0700120 "Disorder caused by mutations in the various subunits composing the BAF complex." MONDO:0009142 "MESH:C565608 OMIM:224550 UMLS:C1857089" -MONDO:0009372 "Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway." "ICD10:E70.8 UMLS:C0268474 SCTID:72945002 ICD9:270.2 OMIM:236800 GARD:0010039 MESH:C536081 Orphanet:79155" +MONDO:0009372 "Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway." "UMLS:C0268474 ICD10CM:E70.8 SCTID:72945002 ICD9:270.2 OMIM:236800 GARD:0010039 MESH:C536081 Orphanet:79155" FOODON:00002581 "An aquatic invertebrate may live entirely beneath the water, or may live upon its surface or on the plants surrounding it. Some breathe air, others breathe water. To move, they may walk, swim, float, skate, fly or glide on their bellies—or they may not move much at all."@en HP:0008734 "Reduced volume of the testicle (the male gonad)." "UMLS:C0241355 SNOMEDCT_US:276411001" -MONDO:0016024 "ICD10:Q87.8 Orphanet:1940" -MONDO:0011595 "OMIM:605779 UMLS:C1853984 ICD10:Q84.6 DOID:0080085 GARD:0009761 Orphanet:79144 SCTID:403281007 MESH:C538333" +MONDO:0016024 "ICD10CM:Q87.8 Orphanet:1940" +MONDO:0011595 "OMIM:605779 ICD10CM:Q84.6 UMLS:C1853984 DOID:0080085 GARD:0009761 Orphanet:79144 SCTID:403281007 MESH:C538333" http://identifiers.org/hgnc/8624 UBERON:0015059 http://identifiers.org/hgnc/18451 HP:0003429 "Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis." "UMLS:C0544820 SNOMEDCT_US:111007000 UMLS:C4025616" CHEBI:27958 "A tropane alkaloid obtained from leaves of the South American shrub Erythroxylon coca." -MONDO:0017487 "Orphanet:295071 ICD10:Q71.4" +MONDO:0017487 "ICD10CM:Q71.4 Orphanet:295071" MONDO:0019134 "Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good." "ONCOTREE:CNC EFO:1000856 ICDO:9506/1 NCIT:C3791 UMLS:C0206719 DOID:14174 Orphanet:73256 GARD:0010641 MESH:D018306" -MONDO:0017933 "Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure." "UMLS:CN204073 Orphanet:324525 ICD10:I42.2" +MONDO:0017933 "Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure." "ICD10CM:I42.2 UMLS:CN204073 Orphanet:324525" http://identifiers.org/hgnc/9823 -MONDO:0013256 "15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." "DOID:0060395 MESH:C579849 ICD10:Q93.5 SCTID:699308002 OMIM:613406 Orphanet:94065 GARD:0012219 UMLS:C3150674 UMLS:CN237818" -MONDO:0013127 "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22." "ICD10:Q77.2 NCIT:C163755 DOID:0050549 Orphanet:93270 DOID:0110087 GARD:0004834 SCTID:27330009 Orphanet:474 OMIM:613091" -MONDO:0018420 "UMLS:CN226127 Orphanet:401825 ICD10:G11.4" -MONDO:0013661 "Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline." "SCTID:702365002 DOID:0111263 Orphanet:289504 GARD:0010818 ICD10:E71.1 OMIM:614265 UMLS:C3280314 MESH:C580002" +MONDO:0013256 "15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." "DOID:0060395 ICD10CM:Q93.5 MESH:C579849 SCTID:699308002 OMIM:613406 Orphanet:94065 GARD:0012219 UMLS:C3150674 UMLS:CN237818" +MONDO:0013127 "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22." "NCIT:C163755 DOID:0050549 Orphanet:93270 DOID:0110087 ICD10CM:Q77.2 GARD:0004834 SCTID:27330009 Orphanet:474 OMIM:613091" +MONDO:0018420 "UMLS:CN226127 Orphanet:401825 ICD10CM:G11.4" +MONDO:0013661 "Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline." "SCTID:702365002 DOID:0111263 Orphanet:289504 GARD:0010818 OMIM:614265 UMLS:C3280314 ICD10CM:E71.1 MESH:C580002" GO:2001023 "Any process that modulates the frequency, rate or extent of response to drug." MONDO:0011594 "UMLS:C3148970 OMIM:605756" -MONDO:0010162 "Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." "DOID:0050727 UMLS:C0268623 OMIM:276710 MedDRA:10069461 GARD:0010332 Orphanet:69723 SCTID:415764005 ICD9:270.2 ICD10:E70.2" +MONDO:0010162 "Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." "DOID:0050727 UMLS:C0268623 OMIM:276710 ICD10CM:E70.2 MedDRA:10069461 GARD:0010332 Orphanet:69723 SCTID:415764005 ICD9:270.2" GO:0042326 "Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule." GO:0002673 "Any process that modulates the frequency, rate, or extent of an acute inflammatory response." MONDO:0016023 CHEBI:26819 "An ester of an alcohol and sulfuric acid." MONDO:0014090 "OMIM:615226 UMLS:C3808889 Orphanet:93334" MONDO:0012793 "UMLS:C2677549 Orphanet:94088 OMIM:612076 MESH:C567426" -MONDO:0010012 "Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis." "Orphanet:3143 ICD9:258.8 NCIT:C129728 OMIM:269200 SCTID:83728000 ICD10:E31.0 DOID:0050168 GARD:0007611" +MONDO:0010012 "Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis." "Orphanet:3143 ICD10CM:E31.0 ICD9:258.8 NCIT:C129728 OMIM:269200 SCTID:83728000 DOID:0050168 GARD:0007611" GO:0061133 "Binds to and increases the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides." -MONDO:0017488 "Orphanet:295073 ICD10:Q71.5" +MONDO:0017488 "Orphanet:295073 ICD10CM:Q71.5" MONDO:0014174 "Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene." "UMLS:C3809434 OMIM:615415 Orphanet:294415" http://identifiers.org/hgnc/7427 CL:0000990 "Conventional dendritic cell is a dendritic cell that is CD11c-high." "FMA:84191" GO:0006518 "The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another." http://identifiers.org/hgnc/8622 -MONDO:0013296 "Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype." "UMLS:C3150773 ICDO:9967/3 OMIM:613523 Orphanet:168953 NCIT:C84277 ONCOTREE:MLNFGFR1 UMLS:C2827362 ICD10:D47.1" -MONDO:0013992 "NCIT:C120386 UMLS:C3554225 OMIM:614963 Orphanet:179494 ICD10:E66.8" -MONDO:0013273 "16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems." "UMLS:C4518796 Orphanet:96078 OMIM:613458 DOID:0060431 ICD10:Q92.3 UMLS:C3150708 GARD:0010755 SCTID:733473000" +MONDO:0013296 "Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype." "UMLS:C3150773 ICDO:9967/3 OMIM:613523 Orphanet:168953 NCIT:C84277 ONCOTREE:MLNFGFR1 UMLS:C2827362 ICD10CM:D47.1" +MONDO:0013992 "NCIT:C120386 UMLS:C3554225 ICD10CM:E66.8 OMIM:614963 Orphanet:179494" +MONDO:0013273 "16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems." "SCTID:733473000 UMLS:C4518796 Orphanet:96078 OMIM:613458 DOID:0060431 UMLS:C3150708 GARD:0010755" MONDO:0023007 "A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus." "MESH:C535603 GARD:0001913 UMLS:C2930947" MONDO:0012818 "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene." "UMLS:C2677132 MESH:C567393 OMIM:612225 SCTID:609576002 DOID:0111107 GARD:0010663 Orphanet:552" -MONDO:0004796 "Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures." "ICD10:G03 ICD10:G03.9 MESH:D008581 HP:0001287 NCIT:C79598 SCTID:7180009 EFO:0000584 DOID:9471 ICD9:322 ICD9:322.9 NCIT:C26828 SCTID:312216007 ICD9:321.8" +MONDO:0004796 "Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures." "MESH:D008581 HP:0001287 NCIT:C79598 SCTID:7180009 EFO:0000584 DOID:9471 ICD9:322 ICD9:322.9 NCIT:C26828 SCTID:312216007 ICD9:321.8" MONDO:0006730 "Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." "MESH:D011605 ICD9:292.1 DOID:1742 EFO:1000902 MedDRA:10045855 SCTID:191483003" PATO:0002094 "An affinity inhering in a tissue constituent by virtue of the bearer exhibiting a molecular interaction for basic dyes under specific pH conditions." GO:0061179 "Any process that decreases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose." @@ -29795,9 +29775,9 @@ GO:0001848 "Binding to a component or product of the complement cascade." ECTO:0000135 "An exposure to organic molecular entity." MONDO:0006438 "Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common." "UMLS:C0008476 EFO:1000557 MESH:D015838 GARD:0006054 NCIT:C34467" MONDO:0034146 "Orphanet:557056" -MONDO:0010399 "ICD10:Q99.8 Orphanet:261476 OMIM:300679 DOID:0060427 UMLS:C0795887 ICD9:277.6 SCTID:297257004" +MONDO:0010399 "ICD10CM:Q99.8 Orphanet:261476 OMIM:300679 DOID:0060427 UMLS:C0795887 ICD9:277.6 SCTID:297257004" UBERON:0015057 -MONDO:0017485 "Orphanet:295067 ICD10:Q72.4" +MONDO:0017485 "Orphanet:295067 ICD10CM:Q72.4" HP:0100737 "UMLS:C4021983" MONDO:0004580 "Degeneration of the retina." "MESH:D012162 NCIT:C34979 SCTID:95695004 DOID:8466" CL:0000509 "A peptide hormone secreting cell that secretes gastrin." @@ -29805,25 +29785,25 @@ NCBITaxon:426439 "GC_ID:1" MONDO:0060532 "OMIM:617602 UMLS:C4539857" MONDO:0007845 "Orphanet:160 OMIM:148000 Orphanet:33276" http://identifiers.org/hgnc/8889 -MONDO:0004670 "An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus." "ICD9:695.4 ICD10:L93.0 UMLS:C0409974 DOID:8857 NCIT:C27153 SCTID:200936003 ICD10:L93" +MONDO:0004670 "An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus." "ICD10CM:L93 ICD9:695.4 ICD10CM:L93.0 UMLS:C0409974 DOID:8857 NCIT:C27153 SCTID:200936003" CHEBI:27933 "An organonitrogen heterocyclic antibiotic that contains a beta-lactam ring." MONDO:0016021 http://identifiers.org/hgnc/8623 GO:0010889 "Any process that modulates the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system." MONDO:0044337 "A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma." "UMLS:C1370723 NCIT:C6926 ICDO:8935/3" -MONDO:0008619 "Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga." "GARD:0004740 SCTID:715242008 MESH:C536935 UMLS:C1860615 ICD10:Q78.5 Orphanet:1837 OMIM:191420" -MONDO:0005002 "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema." "ICD9:496 NCIT:C3199 MESH:D029424 ICD9:490-496.99 OMIM:606963 ICD10:J44.9 EFO:0000341 DOID:3083 SCTID:13645005" -MONDO:0001909 "A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets." "UMLS:C0001126 MESH:D000141 ICD10:N25.89 GARD:0007552 OMIM:267200 SCTID:1776003 OMIM:179830 OMIM:602722 NCIT:C28129 ICD9:588.89 DOID:14219" +MONDO:0008619 "Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga." "GARD:0004740 SCTID:715242008 MESH:C536935 UMLS:C1860615 ICD10CM:Q78.5 Orphanet:1837 OMIM:191420" +MONDO:0005002 "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema." "ICD9:496 NCIT:C3199 MESH:D029424 ICD9:490-496.99 OMIM:606963 EFO:0000341 DOID:3083 SCTID:13645005" +MONDO:0001909 "A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets." "UMLS:C0001126 MESH:D000141 GARD:0007552 OMIM:267200 SCTID:1776003 OMIM:179830 OMIM:602722 NCIT:C28129 ICD9:588.89 DOID:14219" MONDO:0015922 "Orphanet:182083" -MONDO:0009900 "Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts)." "Orphanet:2934 ICD10:Q87.8 MESH:C564875 UMLS:C1849719 SCTID:724066002 GARD:0004428 OMIM:263630" +MONDO:0009900 "Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts)." "Orphanet:2934 ICD10CM:Q87.8 MESH:C564875 UMLS:C1849719 SCTID:724066002 GARD:0004428 OMIM:263630" MONDO:0019105 "A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices." "EFO:1001838 SCTID:717267005 Orphanet:71273 MESH:D059228 GARD:0011971 UMLS:C3178770" MONDO:0009147 "DOID:0111665 OMIM:224900 UMLS:C0406702 Orphanet:238468 UMLS:C3887494 Orphanet:248" MONDO:0034147 "Orphanet:557064" -MONDO:0017486 "Orphanet:295069 ICD10:Q71.4" +MONDO:0017486 "ICD10CM:Q71.4 Orphanet:295069" MONDO:0012795 "OMIM:612089 MESH:C567423 UMLS:C2677524" MONDO:0012984 "Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life." "OMIM:612674 UMLS:C2675204 MESH:C567203 Orphanet:171848 DOID:0080181 SCTID:723452007" http://identifiers.org/hgnc/5028 -MONDO:0015440 "Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported." "SCTID:765488003 NCIT:C121985 Orphanet:1448 ICD10:Q93.2 GARD:0006095 MESH:C537763" +MONDO:0015440 "Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported." "SCTID:765488003 ICD10CM:Q93.2 NCIT:C121985 Orphanet:1448 GARD:0006095 MESH:C537763" UBERON:0035549 GO:0007271 "The vesicular release of acetylcholine from a presynapse, across a chemical synapse, the subsequent activation of dopamine receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse." GO:0016454 "Catalysis of the transfer of a palmitoyl group to a carbon atom on the acceptor molecule." @@ -29834,51 +29814,51 @@ http://identifiers.org/hgnc/18455 GO:0009743 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus." GO:1904171 "Any process that stops, prevents or reduces the frequency, rate or extent of bleb assembly." MONDO:0011333 "MESH:C566367 UMLS:C1863767 OMIM:603530" -MONDO:0016020 "SCTID:253103006 Orphanet:1931 ICD10:Q01.0" +MONDO:0016020 "SCTID:253103006 Orphanet:1931 ICD10CM:Q01.0" http://identifiers.org/hgnc/7422 MONDO:0015921 "Orphanet:182079" GO:0044848 "A distinct period or stage in a biological process or cycle." MONDO:0001300 "An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities." "CSP:2049-9000 DOID:0060054 NCIT:C27033 CSP:2042-2001 DOID:11504 SCTID:277879009 UMLS:C0259749" -MONDO:0002776 "A disease involving the external ear." "SCTID:49130001 ICD10:H61.9 UMLS:C0155388 ICD9:380.9 ICD9:380 ICD9:744.47 ICD10:H60-H62 DOID:379 ICD10:H60.H62 NCIT:C26972" +MONDO:0002776 "A disease involving the external ear." "SCTID:49130001 ICD10CM:H60-H62 UMLS:C0155388 ICD9:380.9 ICD9:380 ICD9:744.47 DOID:379 NCIT:C26972" GO:0062033 "Any process that starts or increases the frequency, rate or extent of sister chromatid segregation during mitosis." NCIT:C36849 UBERON:0035548 MONDO:0018681 "Orphanet:453499 UMLS:CN237747 OMIM:616580" UBERON:0015055 -MONDO:0017483 "Orphanet:295063 ICD10:Q71.8" +MONDO:0017483 "ICD10CM:Q71.8 Orphanet:295063" MONDO:0018682 "Orphanet:453510" UBERON:0035546 http://identifiers.org/hgnc/8621 http://identifiers.org/hgnc/6224 -MONDO:0019191 "IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis." "MESH:D008882 UMLS:C0026103 ICD10:K11.8 NCIT:C34819 Orphanet:79078 SCTID:7826003 GARD:0007043 MedDRA:10051457 MedDRA:10052317 DOID:12900" +MONDO:0019191 "IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis." "ICD10CM:K11.8 MESH:D008882 UMLS:C0026103 NCIT:C34819 Orphanet:79078 SCTID:7826003 GARD:0007043 MedDRA:10051457 MedDRA:10052317 DOID:12900" NCBITaxon:426437 "GC_ID:1" MONDO:0003126 "A capillary or cavernous hemangioma arising from the breast." "NCIT:C5353 DOID:476 UMLS:C0853715" MONDO:0007847 "OMIM:148100" -MONDO:0012544 "Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." "MESH:C565193 UMLS:C1853137 OMIM:610713 Orphanet:93409 DOID:0050689 ICD10:Q73.8" +MONDO:0012544 "Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." "MESH:C565193 ICD10CM:Q73.8 UMLS:C1853137 OMIM:610713 Orphanet:93409 DOID:0050689" NCBITaxon:10880 "GC_ID:1" -MONDO:0021259 "A neoplasm (disease) that involves the prostate gland." "ONCOTREE:PROSTATE ICD9:600.1 NCIT:C3343 ICD10:N40 DOID:13206" +MONDO:0021259 "A neoplasm (disease) that involves the prostate gland." "ONCOTREE:PROSTATE ICD9:600.1 NCIT:C3343 DOID:13206" MONDO:0043988 "Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." "MESH:D031368 UMLS:C1135841 EFO:1001827 SCTID:449783002" MONDO:0011332 "OMIM:603529 UMLS:C3807235" -MONDO:0008854 "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13." "GARD:0000820 MESH:C537909 UMLS:C1859566 UMLS:C0752166 UMLS:C1859565 DOID:0110123 EFO:0009021 UMLS:C3150127 UMLS:C1859570 UMLS:C1858054 UMLS:C1859567 Orphanet:110 UMLS:C2673873 UMLS:C3714980 UMLS:C2936862 UMLS:C1859564 OMIM:209900 ICD10:Q87.89 UMLS:C3806174 UMLS:C2673874 UMLS:C1859569 UMLS:C1859568" +MONDO:0008854 "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13." "GARD:0000820 MESH:C537909 UMLS:C1859566 UMLS:C0752166 UMLS:C1859565 DOID:0110123 EFO:0009021 UMLS:C3150127 UMLS:C1859570 UMLS:C1858054 UMLS:C1859567 Orphanet:110 UMLS:C2673873 UMLS:C3714980 UMLS:C2936862 UMLS:C1859564 OMIM:209900 UMLS:C3806174 UMLS:C2673874 UMLS:C1859569 UMLS:C1859568" MONDO:0037744 "SCTID:126804008 UMLS:C0345590" MONDO:0013995 "DOID:0070229 OMIM:614972 Orphanet:69665 EFO:0009150 UMLS:C3554241" GO:0008482 "Catalysis of the reaction: H(2)O + O(2) + sulfite = H(2)O(2) + H(+) + sulfate." GO:0002208 "The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response." UBERON:0013759 -MONDO:0007624 "Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne." "GARD:0002347 Orphanet:2047 ICD10:Q87.8 MESH:C537066 OMIM:136300 UMLS:C0343108 SCTID:239056006" +MONDO:0007624 "Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne." "GARD:0002347 Orphanet:2047 MESH:C537066 OMIM:136300 UMLS:C0343108 SCTID:239056006 ICD10CM:Q87.8" MONDO:0018609 "A hereditary optic neuropathy that is part of a larger syndrome." "Orphanet:441434 UMLS:CN237645" MONDO:0015920 "Orphanet:182076 UMLS:CN200518" MONDO:0024454 "A disease that involves the sacral nerve plexus." "UMLS:C2931445 GARD:0007597 MESH:C537224" -MONDO:0010984 "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner." "DOID:0110831 OMIM:601067 Orphanet:886 Orphanet:231169 ICD10:H35.5 GARD:0005438" -MONDO:0017617 "A acquired immunodeficiency that occurs in an adult." "Orphanet:306431 GARD:0011992 ICD10:D84.8" -MONDO:0004830 "Inflammation process in fascia." "UMLS:C0015645 NCIT:C50559 SCTID:36948007 DOID:9598 ICD10:M72.9 ICD9:729.4 MESH:D005208 HP:0100537" +MONDO:0010984 "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner." "DOID:0110831 OMIM:601067 Orphanet:886 Orphanet:231169 GARD:0005438" +MONDO:0017617 "A acquired immunodeficiency that occurs in an adult." "ICD10CM:D84.8 Orphanet:306431 GARD:0011992" +MONDO:0004830 "Inflammation process in fascia." "UMLS:C0015645 NCIT:C50559 SCTID:36948007 DOID:9598 ICD9:729.4 MESH:D005208 HP:0100537" MONDO:0014988 GO:0045600 "Any process that activates or increases the frequency, rate or extent of adipocyte differentiation." UBERON:0015056 -MONDO:0017484 "Orphanet:295065 ICD10:Q72.4" +MONDO:0017484 "ICD10CM:Q72.4 Orphanet:295065" CHEBI:36339 "Baryon is a fermion that does experience the strong force (strong interaction). The term is derived from the Greek betaalpharhoupsilonsigma (heavy)." MONDO:0012797 "UMLS:C2677515 OMIM:612096 MESH:C567421" -MONDO:0005283 "Any disease or disorder of the retina." "ICD10:H35.9 NCIT:C62601 HGNC:8002 ICD9:362.9 EFO:0003839 SCTID:29555009 DOID:5679 UMLS:C0035309 ICD9:362.89 MESH:D012164" +MONDO:0005283 "Any disease or disorder of the retina." "NCIT:C62601 HGNC:8002 ICD9:362.9 EFO:0003839 ICD10CM:H30-H36 SCTID:29555009 DOID:5679 UMLS:C0035309 ICD9:362.89 MESH:D012164" MONDO:0000001 "A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism." "DOID:4 OGMS:0000031 Orphanet:377788 UMLS:C0012634 SCTID:64572001 MESH:D004194 ICD9:799.9 EFO:0000408 NCIT:C2991" MONDO:0006097 "An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes." "NCIT:C6505 ICDO:8850/1 EFO:1000099 DOID:5690" GO:0015889 "The directed movement of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." @@ -29886,7 +29866,7 @@ MONDO:0020026 "OBSOLETE. Rare female infertility." "UMLS:CN227737 Orphanet:98049 CL:0008034 "Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation." CHEBI:86327 "Any antifungal agent used to prevent or treat fungal infections in humans or animals." MONDO:0024307 -MONDO:0018429 "UMLS:CN226142 Orphanet:401935 ICD10:Q93.5" +MONDO:0018429 "UMLS:CN226142 ICD10CM:Q93.5 Orphanet:401935" MONDO:0006181 "A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." "NCIT:C96963 EFO:1000218 UMLS:C0151544 DOID:0050922 HP:0002672" HP:0011799 "UMLS:C4023183" MONDO:0005667 "A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction." "DOID:4140 EFO:0007169 SCTID:197432008 MESH:D001657 HP:0012396 UMLS:C0005416 ICD9:575.8" @@ -29895,12 +29875,12 @@ UBERON:0013758 http://identifiers.org/hgnc/1330 MONDO:0004383 "A central nervous system germinoma that occurs in an adult." "DOID:7867 UMLS:C1370504 NCIT:C5792" MONDO:0034142 "Orphanet:556955" -MONDO:0008244 "Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." "OMIM:172800 Orphanet:2884 SCTID:6479008 ICD9:270.2 ICD10:E70.3 UMLS:C0080024 NCIT:C85009 DOID:3263 GARD:0004344 MESH:D016116 ICD10:E70.39" +MONDO:0008244 "Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." "OMIM:172800 Orphanet:2884 SCTID:6479008 ICD9:270.2 UMLS:C0080024 NCIT:C85009 DOID:3263 GARD:0004344 MESH:D016116 ICD10CM:E70.3" UBERON:0006657 UBERON:0015053 NCBITaxon:451871 "GC_ID:1" MONDO:0001556 "Blockage of the normal flow of urine in the urethra." "MESH:D014524 UMLS:C0041972 HP:0000796 ICD9:599.69 DOID:12577 SCTID:95588004 NCIT:C79804" -MONDO:0007699 "An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism." "NCIT:C27191 Orphanet:855 ICD10:E06.3 UMLS:C0677607 MESH:D013967 DOID:7188 MESH:D050031 Wikipedia:Hashimoto's_thyroiditis EFO:0003779 ICD9:245.2 OMIM:608175 OMIM:140300" +MONDO:0007699 "An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism." "NCIT:C27191 Orphanet:855 UMLS:C0677607 MESH:D013967 DOID:7188 MESH:D050031 Wikipedia:Hashimoto's_thyroiditis EFO:0003779 ICD9:245.2 OMIM:608175 ICD10CM:E06.3 OMIM:140300" GO:0098647 "A supramolecular assembly of collagen trimers with a 'beads on a string'-like structure." MONDO:0014052 "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene." "Orphanet:98914 Orphanet:590 DOID:0110657 UMLS:C3808739 OMIM:615120" GO:1904677 "Any process that activates or increases the frequency, rate or extent of somatic stem cell division." @@ -29925,39 +29905,39 @@ MONDO:0034143 "Orphanet:556985" MONDO:0007362 "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene." "GARD:0006145 UMLS:CN074280 OMIM:120970 Orphanet:1872 DOID:0111005 SCTID:80328002 ICD9:362.75 UMLS:C0035334" GO:0023035 "A series of molecular signals initiated by the binding of the cell surface receptor CD40 to one of its physiological ligands, and ending with regulation of a downstream cellular process, e.g. transcription." GO:0030195 "Any process that stops, prevents, or reduces the frequency, rate or extent of blood coagulation." -MONDO:0010827 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene." "DOID:0110381 ICD10:H35.5 OMIM:600132 GARD:0010385 UMLS:C1838603" +MONDO:0010827 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene." "DOID:0110381 OMIM:600132 GARD:0010385 UMLS:C1838603" NCBITaxon:451870 "GC_ID:1" MONDO:0044874 "The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood." "ONCOTREE:RCYC NCIT:C82596" UBERON:0015054 MONDO:0001750 "ICD9:252.02 DOID:13575" -MONDO:0016664 "A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations." "Orphanet:251325 ICD10:M31.8 UMLS:C3812646 NCIT:C112204" +MONDO:0016664 "A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations." "Orphanet:251325 UMLS:C3812646 ICD10CM:M31.8 NCIT:C112204" MONDO:0006922 "Infections with bacteria of the family anaplasmataceae." "MESH:D000711 SCTID:422167001 EFO:1001123" MONDO:0004229 "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern." "DOID:7459 NCIT:C40359 UMLS:C1519485 EFO:1001969" MONDO:0018427 MONDO:0027069 "DOID:0111748 OMIM:500015" -MONDO:0013030 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene." "OMIM:612877 DOID:0110458 MESH:C567877 ICD10:I42.0 UMLS:C2752072" +MONDO:0013030 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene." "OMIM:612877 DOID:0110458 MESH:C567877 UMLS:C2752072 ICD10CM:I42.0" GO:0032886 "Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the microtubule cytoskeleton." UBERON:0013755 -MONDO:0011438 "An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin." "ICD10:L70 HP:0001061 OMIM:604324 ICD9:706.0 ICD10:L70.9 MTH:217 EFO:0003894 ICD10:L70.2 DOID:6543 NCIT:C27195" +MONDO:0011438 "An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin." "HP:0001061 OMIM:604324 ICD9:706.0 MTH:217 EFO:0003894 DOID:6543 NCIT:C27195" MONDO:0032849 "OMIM:618651" ECTO:9002131 "An exposure to flame retardant." IAO:0000102 "Data about an ontology part is a data item about a part of an ontology, for example a term"@en http://identifiers.org/hgnc/4092 CHEBI:597326 "The dianion resulting from the removal of two protons from the phosphate group of pyridoxal 5'-phosphate." -MONDO:0009635 "Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium." "UMLS:C0341306 SCTID:235729009 ICD10:P78.3 OMIM:251850 MedDRA:10068494 GARD:0007039 ICD9:579.8 DOID:0060775 Orphanet:2290" +MONDO:0009635 "Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium." "UMLS:C0341306 ICD10CM:P78.3 SCTID:235729009 OMIM:251850 MedDRA:10068494 GARD:0007039 ICD9:579.8 DOID:0060775 Orphanet:2290" NCBITaxon:39700 "GC_ID:1" GO:0070991 "Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a medium-chain fatty acid residue. A medium chain fatty acid is any fatty acid with a chain length of between C6 and C12." MONDO:0012471 "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene." "GARD:0010895 MESH:C563683 UMLS:C1835916 Orphanet:51 OMIM:610329" HP:0003107 "Any deviation from the normal concentration of cholesterol in the blood circulation." "UMLS:C4025656" http://identifiers.org/hgnc/29203 -MONDO:0018428 "Orphanet:401923 ICD10:Q93.5 UMLS:CN226140" +MONDO:0018428 "Orphanet:401923 UMLS:CN226140 ICD10CM:Q93.5" UBERON:0013754 MONDO:0032848 "OMIM:618648" MONDO:0001519 "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)" "SCTID:33168009 ICD9:374.00 UMLS:C0014390 MESH:D004774 HP:0000621 DOID:12397" GO:0106119 "Any process that stops, prevents or reduces the frequency, rate or extent of a sterol biosynthetic process." MONDO:0003891 "A signet ring cell carcinoma that involves the urinary bladder." "NCIT:C6163 UMLS:C1332563 DOID:6481" http://identifiers.org/hgnc/1331 -MONDO:0014447 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene." "DOID:0110141 OMIM:615996 ICD10:Q87.89 UMLS:C3889475" +MONDO:0014447 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene." "DOID:0110141 OMIM:615996 UMLS:C3889475" HP:0003225 "Decreased activity of coagulation factor V." "MSH:D005166 SNOMEDCT_US:4320005 SNOMEDCT_US:88776002 UMLS:C0015499" UBERON:0015052 MONDO:0034145 "OMIM:618440 Orphanet:557003" @@ -29966,28 +29946,28 @@ CL:0000638 "An acidophilic chromophil cell that of the anterior pituitary gland. MONDO:0006126 "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "EFO:1000154 UMLS:C0854488 NCIT:C5501" MONDO:0004459 "A hepatoid adenocarcinoma that involves the urinary bladder." "DOID:8097 NCIT:C39838 UMLS:C1511189" GO:0000963 "The conversion of a primary RNA molecule transcribed from a mitochondrial genome into one or more mature RNA molecules; occurs in the mitochondrion." -MONDO:0044792 "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." "SCTID:398696001 UMLS:C1842036 OMIM:137550 Orphanet:626 DOID:0111359 MedDRA:10072036 NCIT:C3944 ICD10:Q82.5 ONCOTREE:SKCN UMLS:C1318558" +MONDO:0044792 "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." "SCTID:398696001 UMLS:C1842036 OMIM:137550 Orphanet:626 DOID:0111359 MedDRA:10072036 ICD10CM:Q82.5 NCIT:C3944 ONCOTREE:SKCN UMLS:C1318558" CHEBI:48355 -MONDO:0017079 "A congenital abnormality in which the meninges protrude through a defect in the cranium." "ICD10:Q01.2 GARD:0003473 NCIT:C124517 SCTID:52330001 Orphanet:268820 ICD10:Q01.1 ICD10:Q01.9 ICD10:Q01.0 ICD10:Q01.8 UMLS:C0009694" +MONDO:0017079 "A congenital abnormality in which the meninges protrude through a defect in the cranium." "ICD10CM:Q01.8 GARD:0003473 NCIT:C124517 SCTID:52330001 Orphanet:268820 ICD10CM:Q01.2 ICD10CM:Q01.1 ICD10CM:Q01.0 UMLS:C0009694 ICD10CM:Q01.9" NCBITaxon:1933264 "GC_ID:1" MONDO:0600016 "A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4." HP:0002270 "An abnormality of the autonomic nervous system." "UMLS:C4025714" GO:0043243 "Any process that activates or increases the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components." UBERON:0005456 MONDO:0044807 "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome." "NCIT:C35527 OMIMPS:128100 UMLS:CN227322 Orphanet:391799" -MONDO:0018425 "ICD10:G10 Orphanet:401901 UMLS:CN226138" +MONDO:0018425 "ICD10CM:G10 Orphanet:401901 UMLS:CN226138" ENVO:01001639 "A process during which microscopic solid particulates are formed from liquid materials in an atmosphere." http://identifiers.org/hgnc/13556 -MONDO:0007766 "Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant." "MESH:D006957 GARD:0008593 SCTID:82054006 ICD10:M85.2 Orphanet:77296 NCIT:C84772 OMIM:144800" +MONDO:0007766 "Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant." "MESH:D006957 GARD:0008593 ICD10CM:M85.2 SCTID:82054006 Orphanet:77296 NCIT:C84772 OMIM:144800" MONDO:0004961 "Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix." "EFO:0000205" MONDO:0030448 "OMIM:619549" CL:0008030 -MONDO:0009653 "A lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus." "GTR:AN1124590 ICD10:E75.1 UMLS:CN716584 SCTID:111384001 GTR:AN1125033 OMIM:252650 UMLS:C0238286 GTR:AN1148743 Orphanet:578 DOID:0080490 NCIT:C84896 GARD:0000094 GTR:AN1125032" -MONDO:0010925 "Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported." "UMLS:C1833380 MESH:C536536 GARD:0005469 OMIM:600736 Orphanet:3424 SCTID:763616002 ICD10:Q87.0" +MONDO:0009653 "A lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus." "GTR:AN1124590 UMLS:CN716584 SCTID:111384001 GTR:AN1125033 OMIM:252650 UMLS:C0238286 GTR:AN1148743 Orphanet:578 DOID:0080490 ICD10CM:E75.1 NCIT:C84896 GARD:0000094 GTR:AN1125032" +MONDO:0010925 "Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported." "UMLS:C1833380 MESH:C536536 GARD:0005469 OMIM:600736 Orphanet:3424 ICD10CM:Q87.0 SCTID:763616002" HP:0000967 "Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae." "SNOMEDCT_US:271813007 MSH:D011693 UMLS:C0031256 SNOMEDCT_US:50091001 MEDDRA:10034754" UBERON:0013753 MONDO:0002129 "A primary or metastatic malignant neoplasm affecting the bone or articular cartilage." "ICD9:170.9 NCIT:C4016 MESH:D001859 SCTID:428281000 NCIT:C9343 DOID:184 CSP:2019-1041" -MONDO:0010391 "Orphanet:95429 OMIM:300652 GARD:0010188" +MONDO:0010391 "OMIM:300652 Orphanet:95429 GARD:0010188" CHEBI:48901 "An azole in which the five-membered heterocyclic aromatic skeleton contains a N atom and one S atom." MONDO:0032842 "OMIM:618635" UBERON:0004258 @@ -30002,24 +29982,24 @@ http://identifiers.org/hgnc/2531 http://identifiers.org/hgnc/9829 UBERON:0005457 UBERON:0013752 -MONDO:0018426 "Orphanet:401911 ICD10:D12.6 UMLS:CN226139" +MONDO:0018426 "ICD10CM:D12.6 Orphanet:401911 UMLS:CN226139" CHEBI:25585 MONDO:0030449 "OMIM:619553" -MONDO:0009830 "A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3." "MESH:C538104 OMIM:168601 ICD10:G20 Orphanet:171695 DOID:0060372 GARD:0009175 UMLS:C1850100 OMIM:168100 OMIM:260300" +MONDO:0009830 "A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3." "ICD10CM:G20 MESH:C538104 OMIM:168601 Orphanet:171695 DOID:0060372 GARD:0009175 UMLS:C1850100 OMIM:168100 OMIM:260300" GO:1904951 "Any process that activates or increases the frequency, rate or extent of establishment of protein localization." MONDO:0100185 "An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens." -MONDO:0010837 "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones." "ICD9:252.01 GARD:0008612 HP:0008200 Orphanet:99878 MESH:D049950 EFO:0008519 ICD10:E21.0 DOID:11202 NCIT:C48280 SCTID:36348003" +MONDO:0010837 "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones." "ICD9:252.01 GARD:0008612 HP:0008200 Orphanet:99878 EFO:0008519 MESH:D049950 DOID:11202 NCIT:C48280 SCTID:36348003" UBERON:0004259 MONDO:0032841 "OMIM:618632" CHEBI:26214 "Natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure." GO:0099550 "Cell-cell signaling between presynapse and postsynapse, across the synaptic cleft, that modulates the synaptic transmission properties of the synapse." MONDO:0001975 "A cavernous hemangioma arising from the orbit." "UMLS:C0346352 NCIT:C4546 SCTID:254998002 DOID:14463 ICD9:228.09" -MONDO:0017204 "Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss." "SCTID:763621004 UMLS:CN202676 Orphanet:279894 ICD10:T37.2 ICD10:H35.3" +MONDO:0017204 "Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss." "SCTID:763621004 UMLS:CN202676 Orphanet:279894 ICD10CM:H35.3 ICD10CM:T37.2" UBERON:0015050 HsapDv:0000204 "Human developmental stage that refers to a sexually mature human." -MONDO:0016391 "Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life." "NCIT:C99248 SCTID:49817004 DOID:11717 UMLS:C0158981 MedDRA:10028933 ICD9:775.1 Orphanet:224 ICD10:P70.2" +MONDO:0016391 "Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life." "NCIT:C99248 ICD10CM:P70.2 SCTID:49817004 DOID:11717 UMLS:C0158981 MedDRA:10028933 ICD9:775.1 Orphanet:224" http://identifiers.org/hgnc/9826 -MONDO:0018423 "UMLS:CN226130 ICD10:G11.4 Orphanet:401840" +MONDO:0018423 "UMLS:CN226130 ICD10CM:G11.4 Orphanet:401840" GO:0032594 "The directed movement of a protein from one location to another within a lipid bilayer." UBERON:0013751 MONDO:0005057 "A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." "NCIT:C6875 UMLS:C1265996 ICDO:8013/3 ONCOTREE:LUNE EFO:0000563 DOID:0050872" @@ -30027,9 +30007,9 @@ CHR:9606-chrXp11.23-p11.22 MONDO:0003966 "A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent." "NCIT:C39935 DOID:6693 UMLS:C1515290" GO:0045683 "Any process that stops, prevents, or reduces the frequency, rate or extent of epidermis development." MONDO:0032845 "OMIM:618643" -MONDO:0001011 "A cystic lesion located in breast tissue." "MESH:D047688 SCTID:399294002 NCIT:C5315 EFO:1000848 ICD10:N60.0 DOID:10350" +MONDO:0001011 "A cystic lesion located in breast tissue." "MESH:D047688 SCTID:399294002 NCIT:C5315 ICD10CM:N60.0 EFO:1000848 DOID:10350" MONDO:0014855 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GNB1 gene." "DOID:0070072 UMLS:C4310774 OMIM:616973" -MONDO:0016655 "6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." "UMLS:CN201884 ICD10:Q93.5 UMLS:C4304528 Orphanet:251046 SCTID:719662000" +MONDO:0016655 "6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations." "UMLS:CN201884 UMLS:C4304528 ICD10CM:Q93.5 Orphanet:251046 SCTID:719662000" CL:1000416 "A myoepithelial cell that is part of the mammary gland." "FMA:67800 CALOHA:TS-2378" MONDO:0056819 "A carcinoma arising from the nasal cavity or paranasal sinuses." "UMLS:C1710095 NCIT:C54293 GARD:0007650" MONDO:0002061 "A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma." "UMLS:C1334252 DOID:1628 NCIT:C36090" @@ -30040,48 +30020,48 @@ http://identifiers.org/hgnc/2799 UBERON:0013750 MONDO:0015929 "Orphanet:182108" MONDO:0032844 "OMIM:618641" -MONDO:0100316 "OMIM:613485 OMIM:611819 OMIM:613688 OMIM:616249 OMIM:192500 OMIM:616247 OMIM:600919 OMIM:611820 NCIT:C85049 OMIM:613695 MedDRA:10039211 OMIM:612955 OMIM:611818 ICD10:I45.8 OMIM:613693 OMIM:603830 GARD:0003284 SCTID:20852007 DOID:0110644" +MONDO:0100316 "OMIM:613485 OMIM:611819 OMIM:613688 OMIM:616249 OMIM:192500 OMIM:616247 ICD10CM:I45.8 OMIM:600919 OMIM:611820 NCIT:C85049 OMIM:613695 MedDRA:10039211 OMIM:612955 OMIM:611818 OMIM:613693 OMIM:603830 GARD:0003284 SCTID:20852007 DOID:0110644" UBERON:0006658 CL:0002183 "A stomach epithelial cell that is olumnar in form with a few short apical microvilli; relatively undifferentiated mitotic cell from which other types of gland are derived; few in number, situated in the isthmus region of the gland and base of the gastric pit." "FMA:62953" PATO:0002045 "A branched quality inhering in a bearer by virtue of the bearer's having smaller branches arising from larger branches. Resembling a tree in branching structure." MONDO:0032843 "OMIM:618637" MONDO:0002293 "A ganglioneuroma arising from the skin." "UMLS:C0346063 SCTID:254766004 NCIT:C4481 DOID:2425" GO:0006629 "The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids." -MONDO:0019451 "A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." "UMLS:C0474856 NCIT:C3179 Orphanet:86829 DOID:0080187 SCTID:188734009 ICD10:D47.1 MESH:D015467 ICDO:9963/3 ONCOTREE:CNL GARD:0010585 UMLS:C0023481 EFO:1000179" +MONDO:0019451 "A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene." "UMLS:C0474856 NCIT:C3179 Orphanet:86829 DOID:0080187 SCTID:188734009 ICD10CM:D47.1 MESH:D015467 ICDO:9963/3 ONCOTREE:CNL GARD:0010585 UMLS:C0023481 EFO:1000179" UBERON:0001979 MONDO:0005243 -MONDO:0016322 "Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure." "SCTID:707435002 UMLS:C3161105 ICD10:J84.841 NCIT:C120169 Orphanet:217560" +MONDO:0016322 "Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure." "SCTID:707435002 UMLS:C3161105 ICD10CM:J84.841 NCIT:C120169 Orphanet:217560" GO:0070132 "Any process that modulates the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion." UBERON:0001713 MONDO:0025114 "Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary." "MESH:D011529 UMLS:C0033741" MONDO:0006936 "The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." "MESH:D011666 DOID:6420 MedDRA:10037450 EFO:1001138" http://identifiers.org/hgnc/6263 -MONDO:0016243 "Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." "NCIT:C35287 Orphanet:2133 MedDRA:10053215 ICD10:D58.2 DOID:5379 ICD9:282.7 UMLS:C0238159 GARD:0002641 SCTID:25065001" +MONDO:0016243 "Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation." "NCIT:C35287 Orphanet:2133 MedDRA:10053215 DOID:5379 ICD9:282.7 UMLS:C0238159 GARD:0002641 ICD10CM:D58.2 SCTID:25065001" CL:0019003 "Any goblet cell that is part of the tracheobronchial epithelium." CHEBI:22315 "Any of the naturally occurring, basic nitrogen compounds (mostly heterocyclic) occurring mostly in the plant kingdom, but also found in bacteria, fungi, and animals. By extension, certain neutral compounds biogenetically related to basic alkaloids are also classed as alkaloids. Amino acids, peptides, proteins, nucleotides, nucleic acids, amino sugars and antibiotics are not normally regarded as alkaloids. Compounds in which the nitrogen is exocyclic (dopamine, mescaline, serotonin, etc.) are usually classed as amines rather than alkaloids." -MONDO:0008511 "Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients." "OMIM:185800 MESH:C536223 HP:0100264 DOID:0050788 UMLS:C1861385 GARD:0008182 OMIM:615298 Orphanet:3250 KEGG:H00484 OMIMPS:185800 ICD10:Q70.9" +MONDO:0008511 "Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients." "OMIM:185800 MESH:C536223 ICD10CM:Q70.9 HP:0100264 DOID:0050788 UMLS:C1861385 GARD:0008182 OMIM:615298 Orphanet:3250 KEGG:H00484 OMIMPS:185800" MONDO:0017049 "Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons." "Orphanet:2680 OMIM:616287 UMLS:CN202399 OMIM:616286" UBERON:0039228 -MONDO:0009183 "Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." "DOID:0060733 OMIM:226730 GARD:0009694 UMLS:C1856934 ICD10:Q81.8 MESH:C535377 Orphanet:79403" +MONDO:0009183 "Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." "DOID:0060733 OMIM:226730 ICD10CM:Q81.8 GARD:0009694 UMLS:C1856934 MESH:C535377 Orphanet:79403" NCBITaxon:83141 "GC_ID:1" http://identifiers.org/hgnc/18647 UBERON:0005670 MONDO:0037743 "A malignant neoplasm that arises from the soft tissues of the mediastinum." "NCIT:C6642 UMLS:C1334599" MONDO:0006440 -MONDO:0006783 "Collection of air and blood in the pleural cavity." "ICD10:J94.2 MESH:D006468 SCTID:16632002 ICD9:511.89 EFO:1000963 MedDRA:10060632 DOID:2718 UMLS:C0019077" +MONDO:0006783 "Collection of air and blood in the pleural cavity." "MESH:D006468 SCTID:16632002 ICD9:511.89 EFO:1000963 MedDRA:10060632 DOID:2718 UMLS:C0019077" http://identifiers.org/hgnc/29450 MONDO:0023573 "GARD:0000353 UMLS:C2931546 MESH:C537614" -MONDO:0015274 "Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea." "ICD9:503 Orphanet:133 GARD:0000867 DOID:10322 EFO:0007168 MESH:D001607 SCTID:18121009 MedDRA:10004485 ICD10:J63.2" +MONDO:0015274 "Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea." "ICD9:503 Orphanet:133 GARD:0000867 DOID:10322 EFO:0007168 MESH:D001607 SCTID:18121009 MedDRA:10004485" http://identifiers.org/hgnc/7460 -MONDO:0011988 "A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." "Orphanet:183707 UMLS:C1842398 SCTID:723443003 ICD10:D71 OMIM:608203 MESH:C564275" -MONDO:0014526 "Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene." "OMIM:616199 UMLS:C4015452 Orphanet:456369 ICD10:E74.0" -MONDO:0005510 "Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria." "EFO:0005562 ICD10:N13.30 ICD9:591 UMLS:C0020295 MESH:D006869 SCTID:43064006 DOID:11111 NCIT:C26796" -MONDO:0007779 "Autosomal dominant form of Opitz G/BBB syndrome." "ICD10:Q87.8 Orphanet:306588 Orphanet:2745 OMIM:145410" +MONDO:0011988 "A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." "Orphanet:183707 ICD10CM:D71 UMLS:C1842398 SCTID:723443003 OMIM:608203 MESH:C564275" +MONDO:0014526 "Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene." "OMIM:616199 UMLS:C4015452 ICD10CM:E74.0 Orphanet:456369" +MONDO:0005510 "Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria." "EFO:0005562 ICD9:591 UMLS:C0020295 MESH:D006869 SCTID:43064006 DOID:11111 NCIT:C26796" +MONDO:0007779 "Autosomal dominant form of Opitz G/BBB syndrome." "Orphanet:306588 Orphanet:2745 OMIM:145410 ICD10CM:Q87.8" MONDO:0000928 "A melanoma that arises from the upper or lower eyelid." "ICD9:172.1 SCTID:231834005 NCIT:C4358 DOID:10040 UMLS:C0339116" GO:0035148 "Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow." UBERON:0002077 -MONDO:0008295 "An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual." "ICD10:E80.1 UMLS:C1867968 UMLS:C1276127 SCTID:402479002 Orphanet:101330 OMIM:176090 MESH:C566768 Orphanet:443057" -MONDO:0018716 "A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion" "ICD10:D18.0 Orphanet:458785" +MONDO:0008295 "An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual." "ICD10CM:E80.1 UMLS:C1867968 UMLS:C1276127 SCTID:402479002 Orphanet:101330 OMIM:176090 MESH:C566768 Orphanet:443057" +MONDO:0018716 "A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion" "ICD10CM:D18.0 Orphanet:458785" MONDO:0007021 "OBSOLETE. Allergic reaction to wheat that is triggered by the immune system." "MESH:D021182 DOID:3660 EFO:1001243 SCTID:420174000 UMLS:C0949570" UBERON:0001978 GO:0051058 "Any process that stops, prevents, or reduces the frequency, rate or extent of small GTPase mediated signal transduction." @@ -30089,13 +30069,13 @@ http://identifiers.org/hgnc/31648 MONDO:0005310 "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC)" "MESH:D001282 ICD9:427.32 EFO:0003911 NCIT:C51224 SCTID:5370000 HP:0004749" MONDO:0015680 "OBSOLETE. Rare pervasive developmental disorder." "Orphanet:168778" UBERON:0001712 -MONDO:0020326 "Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features." "Orphanet:98842 NCIT:C3721 MESH:D017731 SCTID:31047003 ICD9:447.8 ICD10:C86.6 ICD10:L41.2 MedDRA:10056670 UMLS:C0206182 GARD:0006944 ICDO:9718/1 ONCOTREE:LYP EFO:1000341" +MONDO:0020326 "Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features." "Orphanet:98842 NCIT:C3721 MESH:D017731 SCTID:31047003 ICD9:447.8 MedDRA:10056670 UMLS:C0206182 GARD:0006944 ICDO:9718/1 ONCOTREE:LYP EFO:1000341" NCBITaxon:29907 "GC_ID:1" MONDO:0002353 "A benign or malignant neoplasm that affects the glottic area of the larynx." "UMLS:C0345713 SCTID:126693009 NCIT:C4425 DOID:2597" CHEBI:33666 MONDO:0006441 NCBITaxon:10624 -MONDO:0017847 "Autosomal recessive form of spastic ataxia." "UMLS:CN229112 ICD10:G11.8 Orphanet:316240" +MONDO:0017847 "Autosomal recessive form of spastic ataxia." "ICD10CM:G11.8 UMLS:CN229112 Orphanet:316240" MONDO:0021180 "Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy." http://identifiers.org/hgnc/7461 MONDO:0003949 @@ -30109,20 +30089,20 @@ UBERON:0004473 UBERON:0002076 MONDO:0003196 "A carcinoma that arises from epithelial cells of the vermiform appendix" "NCIT:C9330 UMLS:C0728951 SCTID:448992002 DOID:4902" UBERON:0003277 -MONDO:0001323 "Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen." "UMLS:C1449721 ICD9:778.7 MESH:D006177 NCIT:C117312 SCTID:34831003 DOID:11603 ICD10:P83.4" +MONDO:0001323 "Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen." "UMLS:C1449721 ICD9:778.7 ICD10CM:P83.4 MESH:D006177 NCIT:C117312 SCTID:34831003 DOID:11603" MONDO:0005245 MONDO:0021080 "A neoplasm arising from arteries or veins." "SCTID:126736007 NCIT:C7387" HP:0012638 "A functional anomaly of the nervous system." "UMLS:C4022811" GO:0045168 "Signaling at long or short range between cells that results in the commitment of a cell to a certain fate." NCIT:C49165 UBERON:0001715 -MONDO:0009774 "A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." "UMLS:C0345217 GARD:0004080 Orphanet:93929 NCIT:C99142 MESH:C537748 DOID:0080175 MedDRA:10067424 Orphanet:322 HP:0010475 ICD9:759.89 SCTID:20815007 ICD10:Q64.1" +MONDO:0009774 "A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." "Orphanet:322 GARD:0004080 HP:0010475 UMLS:C0345217 SCTID:20815007 DOID:0080175 MESH:C537748 MedDRA:10067424 NCIT:C99142 ICD9:759.89 Orphanet:93929 ICD10CM:Q64.1" UBERON:0005672 NCBITaxon:29908 "GC_ID:1" -MONDO:0018629 "UMLS:CN237672 Orphanet:443804 OMIM:184850 ICD10:G25.8" +MONDO:0018629 "UMLS:CN237672 Orphanet:443804 OMIM:184850 ICD10CM:G25.8" CHEBI:50266 "A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug." UBERON:0002079 -MONDO:0021147 "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development." +MONDO:0021147 "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development." "ICD10CM:Q00-Q99" MONDO:0023571 "GARD:0003140 MESH:C537509 UMLS:C2931513" CHEBI:48730 "Silicate minerals that contain aluminium, silicon, and oxygen, together with other ions. They are a major component of clay minerals." MONDO:0020817 "SCTID:201195008" @@ -30136,20 +30116,20 @@ CHEBI:33402 UBERON:0005673 GO:0045254 "Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3)." MONDO:0004130 "An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading." "NCIT:C8256 UMLS:C0280470 DOID:7174" -MONDO:0004666 "An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection." "NCIT:C128390 UMLS:C0025530 ICD10:B66.8 DOID:884 ICD9:121.5 GARD:0009745 SCTID:37832003" +MONDO:0004666 "An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection." "NCIT:C128390 UMLS:C0025530 DOID:884 ICD9:121.5 GARD:0009745 SCTID:37832003" CHEBI:35568 "Any molecular entity that consists of a ring having (formally) the maximum number of noncumulative double bonds." UBERON:0002078 ENVO:09200014 "The temperature of some water." MONDO:0006443 UBERON:0004475 MONDO:0002159 "An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells." "DOID:1965 UMLS:C1517116 NCIT:C40128" -MONDO:0019829 "ICD10:Q26.9 ICD9:747.49 SCTID:70195006 Orphanet:95498" +MONDO:0019829 "ICD10CM:Q26.9 ICD9:747.49 SCTID:70195006 Orphanet:95498" MONDO:0014181 "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene." "DOID:0060211 UMLS:C3715156 Orphanet:803 OMIM:615426" HP:0000005 "The pattern in which a particular genetic trait or disorder is passed from one generation to the next." "UMLS:C1708511" MONDO:0024888 "An epithelial neoplasm of the female reproductive system arising from mesonephric remnants." "ICDO:9110/1 NCIT:C4295" CHEBI:33663 NCBITaxon:83145 "GC_ID:1" -MONDO:0009712 "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as \"minicores\" on ATPase staining as a result of focal defects in oxidative activity." "NCIT:C150608 OMIM:255320 GARD:0010316 Orphanet:598 ICD10:G71.2 UMLS:C1850674 Orphanet:98905" +MONDO:0009712 "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as \"minicores\" on ATPase staining as a result of focal defects in oxidative activity." "NCIT:C150608 OMIM:255320 GARD:0010316 Orphanet:598 ICD10CM:G71.2 UMLS:C1850674 Orphanet:98905" MONDO:0018627 "Orphanet:443287 UMLS:CN237670" MONDO:0024497 "Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive." "NCIT:C14158" CHEBI:38560 @@ -30162,7 +30142,7 @@ MONDO:0017429 "Orphanet:294949" MONDO:0013340 "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene." "OMIM:613643 UMLS:C3150899 Orphanet:2828" MONDO:0000678 "An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time." "GARD:0011943 DOID:0060148" UBERON:0006871 -MONDO:0019824 "Orphanet:95488 ICD10:E23.0" +MONDO:0019824 "Orphanet:95488 ICD10CM:E23.0" MONDO:0023577 "MESH:C537619 UMLS:C2931550 GARD:0003144" MONDO:0020811 "OMIMPS:124000" NCBITaxon:10629 @@ -30174,33 +30154,33 @@ CL:0000182 "The main structural component of the liver. They are specialized epi MONDO:0000783 "A fruit allergy triggered by Citrus sinensis plant fruit food product." "DOID:0060508" MONDO:0043836 "Tuberculosis of the vertebrae." "NCIT:C35087 MESH:D014399 SCTID:35984006" GO:0010604 "Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass." -MONDO:0001547 "UMLS:C0155471 ICD9:384.82 ICD10:H73.82 SCTID:72052003 DOID:12546" +MONDO:0001547 "UMLS:C0155471 ICD9:384.82 SCTID:72052003 DOID:12546" GO:0000819 "The cell cycle process in which sister chromatids are organized and then physically separated and apportioned to two or more sets." MONDO:0022113 "UMLS:C1274708 GARD:0010826 ICD9:704.09 SCTID:109441000119102 OMIM:618352" MONDO:0000349 CHEBI:36043 "A drug used to treat or prevent microbial infections." MONDO:0018628 "Orphanet:443291 UMLS:CN237671" -MONDO:0011706 "Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment." "Orphanet:306674 ICD10:G23.0 GARD:0009174 DOID:0060556 OMIM:606693 Orphanet:314632 MESH:C537177" +MONDO:0011706 "Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment." "ICD10CM:G23.0 Orphanet:306674 GARD:0009174 DOID:0060556 OMIM:606693 Orphanet:314632 MESH:C537177" MONDO:0008158 "Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter)." "OMIM:166705 MESH:C536061 Orphanet:1562 GARD:0000351 SCTID:721082002 UMLS:C1833698" -MONDO:0019879 "Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported." "Orphanet:96096 SCTID:763273008 ICD10:Q92.3" +MONDO:0019879 "Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported." "Orphanet:96096 SCTID:763273008" GO:1901661 "The chemical reactions and pathways involving quinone." -MONDO:0004790 "A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis." "SCTID:197321007 MESH:D005235 OMIM:228100 DOID:9452 SCTID:371330000 ICD9:571.8 ICD9:571.0 EFO:0003934 ICD10:K70.0 UMLS:C0015696 MESH:D005234" -MONDO:0019228 "An acquired metabolic disease that is has its basis in the disruption of histidine metabolic process." "DOID:9265 ICD10:E70.40 ICD10:E70.4 Orphanet:79181 ICD10:E70.8 ICD9:270.5" +MONDO:0004790 "A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis." "SCTID:197321007 MESH:D005235 OMIM:228100 DOID:9452 SCTID:371330000 ICD9:571.8 ICD9:571.0 EFO:0003934 UMLS:C0015696 MESH:D005234" +MONDO:0019228 "An acquired metabolic disease that is has its basis in the disruption of histidine metabolic process." "DOID:9265 ICD10CM:E70.40 Orphanet:79181 ICD9:270.5 ICD10CM:E70.8" GO:0043167 "Binding to an ion, a charged atoms or groups of atoms." HsapDv:0000118 "Young adult stage that refers to an adult who is over 24 and under 25." -MONDO:0019992 "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP)." "OMIM:612462 ICD9:275.49 SCTID:58976002 DOID:4184 GARD:0010758 UMLS:C0033806 ICD10:E20.1 MESH:D011547 Orphanet:97593 OMIM:603233 NCIT:C99027 MedDRA:10037126" +MONDO:0019992 "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP)." "OMIM:612462 ICD10CM:E20.1 ICD9:275.49 SCTID:58976002 DOID:4184 GARD:0010758 UMLS:C0033806 MESH:D011547 Orphanet:97593 OMIM:603233 NCIT:C99027 MedDRA:10037126" UBERON:0002072 NCBITaxon:34619 "GC_ID:1" MONDO:0003941 "NCIT:C27888 UMLS:C1333062 DOID:6605" MONDO:0005241 -MONDO:0019002 "Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure." "UMLS:C0391826 ICD10:Q04.8 GARD:0006901 NCIT:C8419 ICDO:9493/0 Orphanet:65285 OMIM:158350" -MONDO:0003522 "Persistent delay or absence in orgasm not accounted for by a medical reason." "DOID:5576 SCTID:81903006 NCIT:C34959 ICD10:F52.32" -MONDO:0009698 "Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time." "UMLS:C0751785 OMIM:254800 MedDRA:10054895 GARD:0003876 SCTID:230423006 MESH:D020194 OMIM:310370 DOID:3535 Orphanet:308 OMIM:612437 ICD10:G40.3" +MONDO:0019002 "Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure." "UMLS:C0391826 GARD:0006901 NCIT:C8419 ICDO:9493/0 Orphanet:65285 ICD10CM:Q04.8 OMIM:158350" +MONDO:0003522 "Persistent delay or absence in orgasm not accounted for by a medical reason." "DOID:5576 SCTID:81903006 ICD10CM:F52.32 NCIT:C34959" +MONDO:0009698 "Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time." "UMLS:C0751785 OMIM:254800 MedDRA:10054895 GARD:0003876 SCTID:230423006 ICD10CM:G40.3 MESH:D020194 OMIM:310370 DOID:3535 Orphanet:308 OMIM:612437" MONDO:0001546 "SCTID:202809009 UMLS:C0158295 DOID:12537 ICD9:724.71" FOODON:03400352 "Renamed from *PRODUCT TYPE, CODEX ALIMENTARIUS* in LanguaL 2008."@en "http://www.langual.org/langual_thesaurus.asp?termid=A0352" -MONDO:0018625 "Orphanet:443192 OMIM:184850 UMLS:CN237666 ICD10:G25.8" +MONDO:0018625 "ICD10CM:G25.8 Orphanet:443192 OMIM:184850 UMLS:CN237666" MONDO:0000348 "DOID:0050537" -MONDO:0017305 "A oculocutaneous albinism that is part of a larger syndrome." "ICD10:E70.3 Orphanet:284811 UMLS:CN227111" +MONDO:0017305 "A oculocutaneous albinism that is part of a larger syndrome." "ICD10CM:E70.3 Orphanet:284811 UMLS:CN227111" MONDO:0043219 "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem." "NCIT:C117013 GARD:0005896 SCTID:83351003" HsapDv:0000136 "Adult stage that refers to an adult who is over 42 and under 43." MONDO:0002743 @@ -30209,11 +30189,11 @@ GO:0051463 "Any process that stops, prevents, or reduces the frequency, rate or MONDO:0005861 "A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs." "NCIT:C128415 SCTID:423092005 UMLS:C0206526 DOID:401 MESH:D018088 EFO:0007381" UBERON:0004470 GO:0061337 "Transfer of an organized electrical impulse across the heart to coordinate the contraction of cardiac muscles. The process begins with generation of an action potential (in the sinoatrial node (SA) in humans) and ends with a change in the rate, frequency, or extent of the contraction of the heart muscles." -MONDO:0019826 "Orphanet:95493 ICD10:Q24.5" +MONDO:0019826 "ICD10CM:Q24.5 Orphanet:95493" UBERON:0001710 MONDO:0023575 "GARD:0003143 MESH:C537618 UMLS:C2931549" UBERON:0002075 -MONDO:0010220 "Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections." "Orphanet:3471 ICD9:759.89 ICD10:N46 MedDRA:10063689 OMIM:279000 GARD:0000341 SCTID:233666007 MESH:C536718 UMLS:C0340037" +MONDO:0010220 "Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections." "Orphanet:3471 ICD9:759.89 MedDRA:10063689 OMIM:279000 GARD:0000341 SCTID:233666007 MESH:C536718 ICD10CM:N46 UMLS:C0340037" MONDO:0004257 "A mixed germ cell tumor that arises from the central nervous system and occurs during childhood." "NCIT:C27403 UMLS:C1332956 DOID:7516" MONDO:0003942 "DOID:6606 NCIT:C27889 UMLS:C1333405" CL:0002483 "A melanocyte that produces pigment within the hair follicle." @@ -30227,21 +30207,21 @@ MONDO:0000347 http://identifiers.org/hgnc/2561 http://identifiers.org/hgnc/854 MONDO:0010190 "Orphanet:2524 GARD:0003631 OMIM:277470 MESH:C564738 DOID:0060267" -MONDO:0017428 "ICD10:Q68.1 Orphanet:294947" -MONDO:0018921 "A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia." "OMIM:607361 OMIM:613885 ICD10:Q61.9 OMIM:267010 NCIT:C98978 ICD9:759.89 OMIM:611561 OMIM:603194 Orphanet:564 ICD9:753.1 ICD9:753.10 UMLS:C0265215 OMIM:249000 OMIM:614175 OMIMPS:249000 OMIM:614209 DOID:0050778 OMIM:612284 OMIM:611134 GARD:0003436 SCTID:29076005 OMIM:615397" +MONDO:0017428 "ICD10CM:Q68.1 Orphanet:294947" +MONDO:0018921 "A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia." "OMIM:607361 OMIM:613885 ICD10CM:Q61.9 OMIM:267010 NCIT:C98978 ICD9:759.89 OMIM:611561 OMIM:603194 Orphanet:564 ICD9:753.1 ICD9:753.10 UMLS:C0265215 OMIM:249000 OMIM:614175 OMIMPS:249000 OMIM:614209 DOID:0050778 OMIM:612284 OMIM:611134 GARD:0003436 SCTID:29076005 OMIM:615397" UBERON:0004471 MONDO:0023310 UBERON:0001975 -MONDO:0100120 "An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector." "https://orcid.org/0000-0002-2825-0621" +MONDO:0100120 "An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector." UBERON:0002074 MONDO:0008523 "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." "OMIM:186580 OMIM:609464 ICD9:714.89 MESH:C538157 Orphanet:90340 UMLS:C1836122 UMLS:C1861303 NCIT:C116794 DOID:0050678 Orphanet:90341 ICD9:692.9 GARD:0000304 SCTID:699861000 MedDRA:10071755" -MONDO:0001540 "An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis." "ICD9:495.1 DOID:12522 NCIT:C34409 UMLS:C0004681 ICD10:J67.1 SCTID:67242002" +MONDO:0001540 "An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis." "ICD9:495.1 DOID:12522 NCIT:C34409 UMLS:C0004681 ICD10CM:J67.1 SCTID:67242002" MONDO:0020814 "SCTID:201191004" -MONDO:0014722 "Orphanet:353298 OMIM:616651 MESH:C535866 ICD10:Q77.7 GARD:0009163 UMLS:C1846059" -MONDO:0008759 "Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." "GARD:0000617 MESH:C536582 UMLS:C2752074 OMIM:203740 SCTID:733630004 Orphanet:31 ICD10:E88.8" -MONDO:0018226 "Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability." "ICD10:G40.4 Orphanet:364063 OMIM:308350" +MONDO:0014722 "Orphanet:353298 OMIM:616651 OMIM:300258 MESH:C535866 GARD:0009163 ICD10CM:Q77.7 UMLS:C1846059" +MONDO:0008759 "Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." "GARD:0000617 MESH:C536582 UMLS:C2752074 OMIM:203740 SCTID:733630004 Orphanet:31 ICD10CM:E88.8" +MONDO:0018226 "Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability." "Orphanet:364063 OMIM:308350 ICD10CM:G40.4" MONDO:0011129 "UMLS:C1866483 OMIM:601682 GARD:0002484" -MONDO:0013524 "Orphanet:220443 ICD10:D69.8 OMIM:614009" +MONDO:0013524 "Orphanet:220443 OMIM:614009 ICD10CM:D69.8" http://identifiers.org/hgnc/9864 UBERON:0019196 http://identifiers.org/hgnc/6005 @@ -30257,7 +30237,7 @@ MONDO:0024468 "A disease that involves the adenohypophysis." "ICD9:253.4 SCTID:5 http://identifiers.org/hgnc/7468 MONDO:0006429 "A rare Hodgkin lymphoma that arises from the spleen." "EFO:1000548 NCIT:C7295 UMLS:C0153791 SCTID:93527005" CHEBI:16015 "An optically active form of glutamic acid having L-configuration." -MONDO:0009824 "Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." "NCIT:C123213 Orphanet:416 Orphanet:93599 OMIM:260000 SCTID:40951006 DOID:0111671 MESH:C536415 UMLS:C0268165 GARD:0002836 ICD10:E74.8 ICD9:271.8" +MONDO:0009824 "Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." "ICD10CM:E74.8 NCIT:C123213 Orphanet:416 Orphanet:93599 OMIM:260000 SCTID:40951006 DOID:0111671 MESH:C536415 UMLS:C0268165 GARD:0002836 ICD9:271.8" MONDO:0014723 "OMIM:616652 Orphanet:477817 UMLS:C4225255" http://identifiers.org/hgnc/16243 MONDO:0007647 "OMIM:137210 UMLS:C1850902 MESH:C564989" @@ -30267,12 +30247,12 @@ NCBITaxon:42068 "GC_ID:1" GO:1902931 "Any process that stops, prevents or reduces the frequency, rate or extent of alcohol biosynthetic process." MONDO:0006459 "A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors." "ICDO:8583/1 NCIT:C6887 UMLS:C1266094 EFO:1000584 DOID:6917" http://identifiers.org/hgnc/9865 -MONDO:0001087 "A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance." "DOID:10646 MESH:D012569 ICD9:301.22 ICD10:F21 NCIT:C92632 SCTID:31027006" +MONDO:0001087 "A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance." "DOID:10646 MESH:D012569 ICD10CM:F20-F29 ICD9:301.22 NCIT:C92632 SCTID:31027006" MONDO:0060781 "UMLS:C2930859 MESH:C535269" -MONDO:0016091 "A Krabbe disease that occurs in an adult." "UMLS:CN200856 Orphanet:206448 ICD10:E75.2" +MONDO:0016091 "A Krabbe disease that occurs in an adult." "UMLS:CN200856 Orphanet:206448 ICD10CM:E75.2" CHEBI:33408 MONDO:0006449 -MONDO:0015647 "Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed." "Orphanet:166424 ICD10:G40.8 UMLS:CN200057 SCTID:763622006" +MONDO:0015647 "Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed." "Orphanet:166424 ICD10CM:G40.8 UMLS:CN200057 SCTID:763622006" HsapDv:0000100 "Child stage that refers to a child who is over 6 and under 7 years old." UBERON:0016435 MONDO:0012329 "UMLS:C1864791 MESH:C566457 OMIM:609654" @@ -30285,14 +30265,14 @@ MONDO:0008841 "Orphanet:100 UMLS:C1859615 MESH:C565930 OMIM:208910" MONDO:0014836 "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene." "OMIM:616924 DOID:0110180 UMLS:C4310790" FOODON:03420228 "A physical-chemical component separated from the food source or its parts by extraction, centrifugation, filtration, heat processing, expressing or a similar process. The separated component may be converted through further processing. If this is done, the final substance is indexed. A water-extracted component may remain in aqueous dispersion. The extract, concentrate or isolate is indexed in preference to the anatomic part from which it is derived. For example, peanut oil is indexed under *PEANUT* combined wih *FAT OR OIL* rather than with *SEED OR KERNEL*. On the other hand, fruit and vegetable juices can be indexed under *FRUIT JUICE OR NECTAR* or *VEGETABLE JUICE* (A. PRODUCT TYPE); therefore the anatomic part of the plant should be indexed."@en "http://www.langual.org/langual_thesaurus.asp?termid=C0228" MONDO:0012328 "SCTID:254677004 UMLS:C2266788 OMIM:609649 UMLS:C1864801" -MONDO:0002155 "An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones." "GARD:0000030 ICD10:K81.9 ICD9:575.11 OMIM:600803 NCIT:C34465 SCTID:20824003 ICD9:575.10 DOID:1949 ICD10:K81 MESH:D002764" -MONDO:0007986 "Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." "GARD:0003571 DOID:0111514 SCTID:22764001 OMIM:156530 Orphanet:2635 MESH:C537356 ICD10:Q77.8" -MONDO:0004925 "Chronic form of dacryocystitis." "SCTID:84627005 DOID:9937 ICD9:375.42 ICD10:H04.41 UMLS:C0149506" -MONDO:0010679 "Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle." "MESH:D020388 NCIT:C75482 GARD:0006291 OMIM:310200 UMLS:C0013264 MedDRA:10013801 Orphanet:98896 ICD10:G71.0 SCTID:76670001 DOID:11723" +MONDO:0002155 "An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones." "GARD:0000030 ICD9:575.11 OMIM:600803 NCIT:C34465 SCTID:20824003 ICD9:575.10 DOID:1949 MESH:D002764" +MONDO:0007986 "Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." "GARD:0003571 ICD10CM:Q77.8 DOID:0111514 SCTID:22764001 OMIM:156530 Orphanet:2635 MESH:C537356" +MONDO:0004925 "Chronic form of dacryocystitis." "SCTID:84627005 DOID:9937 ICD9:375.42 UMLS:C0149506" +MONDO:0010679 "Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle." "ICD10CM:G71.0 MESH:D020388 NCIT:C75482 GARD:0006291 OMIM:310200 UMLS:C0013264 MedDRA:10013801 Orphanet:98896 SCTID:76670001 DOID:11723" UBERON:0001972 MONDO:0005262 "A congenital or acquired cyst that is present in the central nervous system." "EFO:0003760 SCTID:277333006 HP:0030724 UMLS:C0349606 MESH:D020863 NCIT:C4657" -MONDO:0019031 "Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." "UMLS:C4302508 OMIM:300367 Orphanet:67044 ICD10:D69.4 SCTID:722475006" -MONDO:0014725 "ICD10:Q02 UMLS:C4225254 OMIM:616657 Orphanet:447997" +MONDO:0019031 "Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." "UMLS:C4302508 OMIM:300367 ICD10CM:D69.4 Orphanet:67044 SCTID:722475006" +MONDO:0014725 "ICD10CM:Q02 UMLS:C4225254 OMIM:616657 Orphanet:447997" MONDO:0007649 "OMIM:137220" GO:0099602 "A molecular function that directly (via physical interaction or direct modification) activates, inhibits or otherwise modulates the activity of a neurotransmitter receptor. Modulation of activity includes changes in desensitization rate, ligand affinity, ion selectivity and pore-opening/closing." HP:0000668 "The absence of five or less teeth from the normal series by a failure to develop." "MSH:D000848 UMLS:C0020608 SNOMEDCT_US:64969001" @@ -30300,7 +30280,7 @@ MONDO:0015270 "Butyrylcholinesterase (BChE) deficiency is a metabolic disorder c http://identifiers.org/hgnc/9863 FOODON:00001262 "Mature ovary of a plant, with a fleshy part of the carpel that develops with the seed to attract animals for aid in dispersal. Botanically, nuts are considered fruits." MONDO:0023089 "A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma." "EFO:1001786 GARD:0006378 NCIT:C3025 UMLS:C0014818" -MONDO:0007285 "Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene." "UMLS:C1861828 OMIM:116200 DOID:0110231 Orphanet:91492 ICD10:Q12.0 MESH:C566158 Orphanet:98984 Orphanet:1377" +MONDO:0007285 "Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene." "UMLS:C1861828 OMIM:116200 DOID:0110231 Orphanet:91492 MESH:C566158 Orphanet:98984 Orphanet:1377" HP:0005508 "Presence of a monoclonal immunoglobulin M protein in the serum." "SNOMEDCT_US:190817009 MSH:D008258 SNOMEDCT_US:190818004 UMLS:C0024419 SNOMEDCT_US:35562000" MONDO:0016234 "OBSOLETE. Rare arteriovenous malformation." "UMLS:CN226888 Orphanet:211266" UBERON:0017635 @@ -30313,24 +30293,24 @@ UBERON:0001971 CL:1001225 "Wikipedia:Kidney_collecting_duct_cell KUPO:0001012" MONDO:0100424 "Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.)" "NCIT:C41381" MONDO:0020810 -MONDO:0018612 "A thyroid hormone deficiency present from birth." "ICD10:E00.1 OMIM:218700 OMIM:274700 NCIT:C98921 OMIM:275200 ICD10:E00.0 ICD9:269.3 DOID:0050328 OMIM:274500 MESH:D003409 ICD10:E00.2 MedDRA:10010510 OMIM:275100 OMIM:225250 OMIM:274400 ICD10:E00.9 NCIT:C26734 SCTID:190268003 ICD10:E03.0 Orphanet:442 OMIM:274900 GARD:0001487 OMIM:609893 OMIM:614450 ICD9:759.89 SCTID:217710005 ICD9:243 UMLS:C0010308 ICD10:E03.1 OMIM:607200" +MONDO:0018612 "A thyroid hormone deficiency present from birth." "ICD10CM:E00.1 OMIM:218700 OMIM:274700 ICD10CM:E03.1 NCIT:C98921 OMIM:275200 ICD9:269.3 DOID:0050328 OMIM:274500 MESH:D003409 ICD10CM:E00.0 ICD10CM:E00.2 MedDRA:10010510 OMIM:275100 OMIM:225250 ICD10CM:E00.9 OMIM:274400 NCIT:C26734 SCTID:190268003 Orphanet:442 OMIM:274900 GARD:0001487 OMIM:609893 OMIM:614450 ICD9:759.89 SCTID:217710005 ICD9:243 ICD10CM:E03.0 UMLS:C0010308 OMIM:607200" http://identifiers.org/hgnc/6267 MONDO:0025459 "A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010." "UMLS:C0035637 MESH:D012301" http://identifiers.org/hgnc/20858 -MONDO:0007642 "ICD10:Q44.0 MESH:C562564 OMIM:137040 Orphanet:440987" +MONDO:0007642 "ICD10CM:Q44.0 MESH:C562564 OMIM:137040 Orphanet:440987" GO:0048513 "Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions." MONDO:0013630 "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene." "UMLS:C3280155 OMIM:614209 Orphanet:564" GO:0032057 "Any process that stops, prevents or reduces the rate of translation initiation as a result of a stimulus indicating the organism is under stress." -MONDO:0002352 "A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." "ICD10:C32 DOID:2596 EFO:1000354 MESH:D007822 UMLS:C0007107 ICD9:161 ICD9:161.8 ICD10:C32.9 ICD9:161.9 NCIT:C7484 SCTID:363429002" +MONDO:0002352 "A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." "DOID:2596 EFO:1000354 MESH:D007822 UMLS:C0007107 ICD9:161 ICD9:161.8 ICD9:161.9 NCIT:C7484 SCTID:363429002" GO:0004618 "Catalysis of the reaction: 3-phospho-D-glycerate + ATP = 3-phospho-D-glyceroyl phosphate + ADP + H(+)." http://identifiers.org/hgnc/7464 -MONDO:0008148 "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." "NCIT:C98576 OMIM:616507 OMIM:613982 OMIM:610968 ICD10:Q78.0 MESH:C536045 UMLS:C0268363 GARD:0008696 OMIM:259440 OMIM:610682 OMIM:615066 OMIM:166220 SCTID:205497004 Orphanet:216820 OMIM:613849 OMIM:615220 DOID:0110340" -MONDO:0005929 "A type of clinical depression that occurs after childbirth." "MESH:D019052 NCIT:C92852 ICD10:F53 EFO:0007453 DOID:9478 SCTID:279225001" +MONDO:0008148 "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." "NCIT:C98576 OMIM:616507 OMIM:613982 OMIM:610968 MESH:C536045 UMLS:C0268363 GARD:0008696 OMIM:259440 ICD10CM:Q78.0 OMIM:610682 OMIM:615066 OMIM:166220 SCTID:205497004 Orphanet:216820 OMIM:613849 OMIM:615220 DOID:0110340" +MONDO:0005929 "A type of clinical depression that occurs after childbirth." "MESH:D019052 NCIT:C92852 EFO:0007453 DOID:9478 SCTID:279225001" CHEBI:50336 MONDO:0014727 "UMLS:C4225252 OMIM:616669" GO:0100026 "Any transcription from RNA polymerase II promoter process that positively regulates DNA repair." http://identifiers.org/hgnc/6266 -MONDO:0020430 "Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy." "SCTID:253353007 ICD9:746.89 GARD:0012484 ICD10:Q24.2 Orphanet:99099" +MONDO:0020430 "Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy." "SCTID:253353007 ICD9:746.89 GARD:0012484 ICD10CM:Q24.2 Orphanet:99099" MONDO:0024715 "A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath." "ICDO:9040/0 UMLS:C0221289 NCIT:C3829" NCIT:C36843 OGMS:0000061 "A bodily process that is clinically abnormal."@en @@ -30339,15 +30319,16 @@ http://identifiers.org/hgnc/6000 MONDO:0007643 "OMIM:137050 UMLS:C1850934 MESH:C564991" HP:0002870 "A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow." "UMLS:C0520679 MSH:D020181 SNOMEDCT_US:78275009" GO:1904690 "Any process that activates or increases the frequency, rate or extent of cytoplasmic translational initiation." -MONDO:0001156 "A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior." "ICD9:301.83 DOID:10930 SCTID:20010003 MESH:D001883 HP:0012076 ICD10:F60.3 NCIT:C92633" +MONDO:0001156 "A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior." "ICD9:301.83 DOID:10930 SCTID:20010003 MESH:D001883 HP:0012076 NCIT:C92633" CHR:9606-chr17q23.1-q23.2 CHEBI:58315 "An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of L-tyrosine; major species at pH 7.3." GO:0032770 "Any process that activates or increases the activity of a monooxygenase." HP:0001760 "An abnormality of the skeleton of foot." "SNOMEDCT_US:229844004 UMLS:C0016506 MSH:D005530" GO:0099240 "The component of the synaptic membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane." +MONDO:0044988 "OBSOLETE. A disease or disorder that involves the hip." "SCTID:118935006 UMLS:C1290862" HP:0025354 "An anomaly of cellular morphology or physiology." GO:0031338 "Any process that modulates the frequency, rate or extent of vesicle fusion." -MONDO:0007797 "The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease." "OMIM:146255 NCIT:C130983 DOID:0060878 ICD10:Q87.8 UMLS:C1840333 Orphanet:2237 MESH:C537907 SCTID:724282009 GARD:0002911" +MONDO:0007797 "The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease." "OMIM:146255 NCIT:C130983 DOID:0060878 ICD10CM:Q87.8 UMLS:C1840333 Orphanet:2237 MESH:C537907 SCTID:724282009 GARD:0002911" HP:0009116 "UMLS:C4024591" MONDO:0003480 "A dysgerminoma (disease) that involves the pineal body." "NCIT:C7169 UMLS:C1335415 DOID:5510" MONDO:0014906 "An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A." "UMLS:C4310725 NCIT:C150647 DOID:0111557 OMIM:617087" @@ -30365,24 +30346,24 @@ MONDO:0008845 "OMIM:209100 MESH:C565926 UMLS:C1859594" MONDO:0017242 "Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias." "GARD:0012428 SCTID:718634003 Orphanet:280779 UMLS:C4305323" HP:0006530 "Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis." "SNOMEDCT_US:233703007 MSH:D017563 UMLS:C0206062" MONDO:0007645 "UMLS:C1850930 OMIM:137130 MESH:C564990" -MONDO:0008119 "Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." "OMIM:164400 UMLS:C0752120 DOID:0050954 ICD10:G11.8 SCTID:715748006 Orphanet:98755 NCIT:C129982 GARD:0004071" -MONDO:0000914 "A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13." "DOID:0111035 UMLS:C0751587 SCTID:390936003 MESH:D046589 OMIM:125310 NCIT:C84606 Orphanet:136 ICD10:F01.1 MedDRA:10065551 GARD:0001049" -MONDO:0015401 "Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic." "Orphanet:141171 SCTID:703335004 ICD10:Q27.3" +MONDO:0008119 "Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." "DOID:0050954 GARD:0004071 ICD10CM:G11.8 UMLS:C0752120 NCIT:C129982 Orphanet:98755 OMIM:164400 SCTID:715748006" +MONDO:0000914 "A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13." "Orphanet:136 OMIM:125310 GARD:0001049 MESH:D046589 NCIT:C84606 SCTID:390936003 MedDRA:10065551 ICD10CM:F01.1 DOID:0111035 UMLS:C0751587" +MONDO:0015401 "Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic." "ICD10CM:Q27.3 Orphanet:141171 SCTID:703335004" http://identifiers.org/hgnc/20859 MONDO:0005248 MONDO:0000243 "A dermatophyte infection of the hair that infects the hair surface." "DOID:0050097" NCBITaxon:34613 "GC_ID:1" MONDO:0008844 "OMIM:209050 UMLS:C1859595 MESH:C565927" -MONDO:0017173 "Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present." "Orphanet:276234 OMIM:612997 UMLS:CN202602 OMIM:614822 ICD10:N46 OMIM:606766" +MONDO:0017173 "Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present." "Orphanet:276234 OMIM:612997 UMLS:CN202602 OMIM:614822 ICD10CM:N46 OMIM:606766" HP:0002538 "Any structural abnormality of the cerebral cortex." "UMLS:C4025701" http://identifiers.org/hgnc/25751 -MONDO:0010638 "Keratosis follicularis-dwarfism-cerebral atrophy syndrome is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present." "ICD10:Q87.1 OMIM:308830 MESH:C536158 UMLS:C1839910 Orphanet:2339 GARD:0003099" +MONDO:0010638 "Keratosis follicularis-dwarfism-cerebral atrophy syndrome is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present." "ICD10CM:Q87.1 OMIM:308830 MESH:C536158 UMLS:C1839910 Orphanet:2339 GARD:0003099" GO:0042995 "A prolongation or process extending from a cell, e.g. a flagellum or axon." MONDO:0014936 "UMLS:C4310696 OMIM:617140 Orphanet:500150" MONDO:0100243 "An instance of paroxysmal nocturnal hemoglobinuria that is inherited." "OMIMPS:300818 OMIM:615399 OMIM:300818" -MONDO:0016498 "UMLS:CN201501 Orphanet:231450 ICD10:G61.0" +MONDO:0016498 "UMLS:CN201501 ICD10CM:G61.0 Orphanet:231450" MONDO:0019290 "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections." "Orphanet:79376 MedDRA:10040868 HP:0001010 MESH:D017496" -MONDO:0020543 "Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome." "UMLS:CN207444 ICD10:C56 Orphanet:99917" +MONDO:0020543 "Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome." "ICD10CM:C56 UMLS:CN207444 Orphanet:99917" MONDO:0016232 "Orphanet:211252" MONDO:0011387 "OMIM:603935 DOID:0111280" GO:0031965 "Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space." @@ -30391,77 +30372,77 @@ MONDO:0017649 "Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caus PATO:0001689 "An elevation which is relatively low." MONDO:0010189 "UMLS:C1848532 MESH:C564739 OMIM:277465" MONDO:0008839 "UMLS:C0796056 OMIM:208870 MESH:C563086" -MONDO:0015691 "Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage." "EFO:1001467 MedDRA:10048643 ICD10:D72.1 GARD:0002804 UMLS:C1540912 ICD9:288.3 ICD10:D47.5 DOID:999 Orphanet:168956 NCIT:C27038 MESH:D017681 SCTID:419455006 ICDO:9964/3" +MONDO:0015691 "Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage." "EFO:1001467 MedDRA:10048643 GARD:0002804 UMLS:C1540912 ICD9:288.3 DOID:999 Orphanet:168956 NCIT:C27038 MESH:D017681 SCTID:419455006 ICDO:9964/3" UBERON:0005409 -MONDO:0019093 "Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR)." "GARD:0011903 Orphanet:70593 ICD10:D80.8 UMLS:C0398711 SCTID:234556002" -MONDO:0017695 "Orphanet:308621 ICD10:E74.0 UMLS:CN203594 OMIM:232500" +MONDO:0019093 "Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR)." "GARD:0011903 Orphanet:70593 ICD10CM:D80.8 UMLS:C0398711 SCTID:234556002" +MONDO:0017695 "Orphanet:308621 UMLS:CN203594 OMIM:232500 ICD10CM:E74.0" MONDO:0005488 "A scoliosis with no known cause arising in adolescent." "EFO:0005423 Orphanet:3153 SCTID:203646004" -MONDO:0001350 "A malignant neoplasm involving the parametrium." "DOID:11746 UMLS:C0153581 SCTID:448674007 ICD10:C57.3 ICD9:183.4" +MONDO:0001350 "A malignant neoplasm involving the parametrium." "DOID:11746 UMLS:C0153581 SCTID:448674007 ICD9:183.4" http://identifiers.org/hgnc/4702 MONDO:0011120 "OMIM:601634 Orphanet:823 UMLS:C1866558 Orphanet:268357" NCBITaxon:54292 "GC_ID:1" http://identifiers.org/hgnc/13743 MONDO:0018894 "Orphanet:53739 GARD:0012683 SCTID:230247001" -MONDO:0014626 "Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging." "UMLS:C4225158 DOID:0111744 EFO:0009058 Orphanet:458798 ICD10:G11.2 OMIM:616410" +MONDO:0014626 "Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging." "ICD10CM:G11.2 UMLS:C4225158 DOID:0111744 EFO:0009058 Orphanet:458798 OMIM:616410" MONDO:0016231 "SCTID:234118009 Orphanet:211247" -MONDO:0010123 "An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978." "OMIM:274190 UMLS:C1848818 MESH:C564770 ICD10:D82.8 Orphanet:2951" +MONDO:0010123 "An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978." "ICD10CM:D82.8 OMIM:274190 UMLS:C1848818 MESH:C564770 Orphanet:2951" MONDO:0021161 "An prostatitis (disease) caused by infection with Neisseria gonorrhoeae." "SCTID:197967000 UMLS:C0341755" -MONDO:0001863 "An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta." "ICD10:Q25.2 SCTID:204431007 DOID:14037 ICD9:747.22" +MONDO:0001863 "An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta." "ICD10CM:Q25.2 SCTID:204431007 DOID:14037 ICD9:747.22" MONDO:0100176 "A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures." NCBITaxon:1658400 "GC_ID:1" NCBITaxon:451866 "GC_ID:1" MONDO:0004350 "Retinoblastoma during childhood that has spread beyond the eye." "DOID:7747 UMLS:C1321870 NCIT:C9048" -MONDO:0015299 "MedDRA:10022821 SCTID:48236007 ICD10:N85.6 MedDRA:10053868 UMLS:C0156372 Orphanet:137686 GARD:0005853" -MONDO:0017696 "UMLS:CN203595 OMIM:232500 ICD10:E74.0 Orphanet:308638" +MONDO:0015299 "MedDRA:10022821 SCTID:48236007 MedDRA:10053868 UMLS:C0156372 Orphanet:137686 GARD:0005853" +MONDO:0017696 "ICD10CM:E74.0 UMLS:CN203595 OMIM:232500 Orphanet:308638" MONDO:0017430 "Orphanet:294951" MONDO:0600003 "A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus." http://identifiers.org/hgnc/4703 MONDO:0014835 "Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene." "OMIM:616922 UMLS:C4310791" MONDO:0012809 "A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare." "NCIT:C6494 ONCOTREE:AFH Orphanet:569164 OMIM:612160 MESH:C563181 UMLS:C1266127 ICDO:8836/1" MONDO:0060527 "OMIM:617596 UMLS:C1291607" -MONDO:0016496 "ICD10:G61.0 Orphanet:231426 UMLS:CN201499" -MONDO:0013784 "OMIM:614498 Orphanet:435845 EFO:0009144 UMLS:C3281029 ICD10:G40.4" +MONDO:0016496 "Orphanet:231426 ICD10CM:G61.0 UMLS:CN201499" +MONDO:0013784 "ICD10CM:G40.4 OMIM:614498 Orphanet:435845 EFO:0009144 UMLS:C3281029" MONDO:0016230 "Orphanet:211243" UBERON:0006603 MONDO:0054867 "MESH:C537170" NCBITaxon:34620 "GC_ID:1" MONDO:0006380 "Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." "UMLS:C1709578 EFO:1000486 NCIT:C45663" -MONDO:0016301 "Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations." "GARD:0001544 MESH:C535426 ICD9:745.12 UMLS:C3274488 ICD10:Q20.5 NCIT:C98902 Orphanet:216694 SCTID:83799000 MedDRA:10011120" -MONDO:0015298 "ICD10:H18.7 GARD:0011895 Orphanet:137672 UMLS:CN199253" +MONDO:0016301 "Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations." "GARD:0001544 MESH:C535426 ICD9:745.12 UMLS:C3274488 NCIT:C98902 Orphanet:216694 SCTID:83799000 MedDRA:10011120" +MONDO:0015298 "ICD10CM:H18.7 GARD:0011895 Orphanet:137672 UMLS:CN199253" GO:2000832 "Any process that stops, prevents or reduces the frequency, rate or extent of steroid hormone secretion." -MONDO:0019759 "Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." "UMLS:CN227686 ICD10:Q64.0 SCTID:406476007 Orphanet:93928 HP:0000039 MESH:D004842 MedDRA:10015088 NCIT:C98923 ICD9:752.62 UMLS:C0014588" +MONDO:0019759 "Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." "UMLS:CN227686 SCTID:406476007 Orphanet:93928 HP:0000039 MESH:D004842 MedDRA:10015088 NCIT:C98923 ICD9:752.62 UMLS:C0014588" http://identifiers.org/hgnc/2309 -MONDO:0017693 "UMLS:CN203589 Orphanet:308520 ICD10:E74.0" +MONDO:0017693 "ICD10CM:E74.0 UMLS:CN203589 Orphanet:308520" http://identifiers.org/hgnc/4704 MONDO:0008837 "MESH:C565932 UMLS:C1859645 OMIM:208750" -MONDO:0013390 "Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases." "DOID:0110285 GARD:0012542 Orphanet:254361 UMLS:C3150989 OMIM:613723 ICD10:G71.0" +MONDO:0013390 "Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases." "DOID:0110285 GARD:0012542 Orphanet:254361 ICD10CM:G71.0 UMLS:C3150989 OMIM:613723" UBERON:0037094 MONDO:0012924 "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene." "MESH:C567281 UMLS:C2675860 OMIM:612527" MONDO:0000369 "An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas." "DOID:0050599 UMLS:C0740652 ICD9:014.80 SCTID:447330002" MONDO:0054865 "Orphanet:527276 OMIMPS:614388" MONDO:0011388 MONDO:0019768 "Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome." "Orphanet:93947 UMLS:CN206703" -MONDO:0016495 "ICD10:G61.0 UMLS:CN201497 Orphanet:231419" +MONDO:0016495 "ICD10CM:G61.0 UMLS:CN201497 Orphanet:231419" UBERON:0006868 NCBITaxon:451868 "PMID:17486979 GC_ID:1" MONDO:0054866 "UMLS:C2721586 SCTID:735686002 GARD:0009434" UBERON:0010341 -MONDO:0011339 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene." "ICD10:G11.4 DOID:0110823 Orphanet:100989 GARD:0009591 MESH:C580458 OMIM:603563 UMLS:C1863704" +MONDO:0011339 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene." "DOID:0110823 Orphanet:100989 GARD:0009591 ICD10CM:G11.4 MESH:C580458 OMIM:603563 UMLS:C1863704" NCBITaxon:34621 "GC_ID:1" -MONDO:0018091 "Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait." "ICD10:Q87.8 MESH:C536349 UMLS:C2931177 GARD:0005490 SCTID:719378009 Orphanet:3433" +MONDO:0018091 "Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait." "ICD10CM:Q87.8 MESH:C536349 UMLS:C2931177 GARD:0005490 SCTID:719378009 Orphanet:3433" MONDO:0014932 "UMLS:C4310701 OMIM:617127" -MONDO:0016001 "2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." "UMLS:C2746066 ICD9:270.8 NCIT:C128187 SCTID:698870008 MESH:C535306 GARD:0010761 Orphanet:19 ICD10:E72.8 DOID:0050573" +MONDO:0016001 "2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." "UMLS:C2746066 ICD9:270.8 NCIT:C128187 SCTID:698870008 MESH:C535306 GARD:0010761 Orphanet:19 ICD10CM:E72.8 DOID:0050573" MONDO:0003000 "A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma." "UMLS:C1332880 NCIT:C5461 DOID:4439" http://identifiers.org/hgnc/19877 MONDO:0008836 "MESH:C565933 OMIM:208700 UMLS:C1859646" -MONDO:0015297 "ICD10:Q87.8 Orphanet:137653 UMLS:CN199250" +MONDO:0015297 "ICD10CM:Q87.8 Orphanet:137653 UMLS:CN199250" MONDO:0012587 "OMIM:610948" -MONDO:0017691 "Orphanet:308473 UMLS:C0574090 SCTID:297238008 ICD10:E74.2" +MONDO:0017691 "Orphanet:308473 UMLS:C0574090 ICD10CM:E74.2 SCTID:297238008" GO:0043031 "Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage activation." MONDO:0014950 "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene." "UMLS:C4284414 OMIM:617168" -MONDO:0019255 "An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease." "ICD10:E75.3 NCIT:C117254 SCTID:238028008 MESH:D013106 ICD10:E75.1 GARD:0007672 ICD10:E75.2 SCTID:58459009 DOID:1927 Orphanet:79225 ICD10:E75.0 UMLS:C0037899" +MONDO:0019255 "An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease." "NCIT:C117254 ICD10CM:E75.2 ICD10CM:E75.0 SCTID:238028008 MESH:D013106 ICD10CM:E75.3 GARD:0007672 DOID:1927 SCTID:58459009 ICD10CM:E75.1 Orphanet:79225 UMLS:C0037899" MONDO:0007638 "OMIM:136830" -MONDO:0016494 "Orphanet:231416 ICD10:G61.0 UMLS:CN201496" +MONDO:0016494 "Orphanet:231416 ICD10CM:G61.0 UMLS:CN201496" http://identifiers.org/hgnc/3508 MONDO:0021783 "Inflammation of the throat due to Streptococcus pyogenes." "EFO:1002024 ICD9:034.0 SCTID:43878008 NCIT:C116003 UMLS:C0036689" MONDO:0011125 "OMIM:601675 Orphanet:670" @@ -30469,7 +30450,7 @@ GO:0009247 "The chemical reactions and pathways resulting in the formation of gl MONDO:0044768 "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia." "GARD:0008620 EFO:1000621 SCTID:253030004 NCIT:C8427 UMLS:CN036786" GO:0045916 "Any process that stops, prevents, or reduces the frequency, rate or extent of complement activation." MONDO:0054869 "MESH:C536245 GARD:0009852" -MONDO:0012519 "Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders." "UMLS:C1864648 OMIM:610543 ICD10:Q87.2 Orphanet:783 Orphanet:353281 GARD:0010754" +MONDO:0012519 "Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders." "UMLS:C1864648 OMIM:610543 ICD10CM:Q87.2 Orphanet:783 Orphanet:353281 GARD:0010754" MONDO:0011814 "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene." "OMIM:607326 Orphanet:178355 UMLS:C3888088" CHR:9606-chr17q21 MONDO:0014931 "OMIM:617126 UMLS:C4310702" @@ -30480,17 +30461,17 @@ GO:0010884 "Any process that increases the rate, frequency or extent of lipid st CL:0002240 "A fibroblast in the bone marrow." "FMA:84377" MONDO:0021698 "Disorders related to or resulting from abuse or mis-use of alcohol." "SCTID:29212009 MESH:D019973" GO:0048608 "The reproductive developmental process whose specific outcome is the progression of somatic structures that will be used in the process of creating new individuals from one or more parents, from their formation to the mature structures." -MONDO:0002594 "An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks." "MESH:D045908 SCTID:359814004 GARD:0010722 NCIT:C128421 DOID:3292 ICD9:136.8 ICD10:B04 UMLS:C0276180 ICD9:059.01" -MONDO:0006873 "A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)" "NCIT:C3669 EFO:1001067 MedDRA:10046058 SCTID:70241007 ICD9:269.8 MESH:D003677 ICD10:E40.E46 DOID:5113 SCTID:363246002 ICD9:269.9" +MONDO:0002594 "An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks." "MESH:D045908 ICD10CM:B04 SCTID:359814004 GARD:0010722 NCIT:C128421 DOID:3292 ICD9:136.8 UMLS:C0276180 ICD9:059.01" +MONDO:0006873 "A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)" "ICD10CM:E40-E46 NCIT:C3669 EFO:1001067 MedDRA:10046058 SCTID:70241007 ICD9:269.8 MESH:D003677 DOID:5113 SCTID:363246002 ICD10CM:E50-E64 ICD9:269.9" CL:2000093 "Any fibroblast of lung that is part of a bronchus." MPATH:607 "Physical entity or structure associated with normal or abnormal tissue healing or repair following extrinsic or intrinsic damage." MONDO:0054601 "UMLS:C4539685 OMIM:617540" -MONDO:0016493 "Orphanet:231413 UMLS:CN201495 ICD10:G61.0" +MONDO:0016493 "Orphanet:231413 ICD10CM:G61.0 UMLS:CN201495" MONDO:0013787 "OMIM:614501 UMLS:C3281055" MONDO:0006186 "A carcinoma that arises from glandular epithelial cells of the duodenum." "DOID:10816 NCIT:C7889 UMLS:C0278804 ONCOTREE:DA EFO:1000223 SCTID:408644002" UBERON:0010343 GO:0002827 "Any process that activates or increases the frequency, rate, or extent of a T-helper 1 type immune response." -MONDO:0021020 "Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." "MedDRA:10057034 Orphanet:79234 ICD10:E80.5 UMLS:C0010324 GARD:0000047 SCTID:8933000 OMIM:218800" +MONDO:0021020 "Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." "MedDRA:10057034 Orphanet:79234 UMLS:C0010324 GARD:0000047 ICD10CM:E80.5 SCTID:8933000 OMIM:218800" MONDO:0054602 "UMLS:C4479640 OMIM:617542" PATO:0001241 "A quality which inheres in a continuant." GO:0015927 "Catalysis of the hydrolysis of trehalose or a trehalose derivative." @@ -30498,22 +30479,22 @@ MONDO:0004195 "The developmental arrest and architectural distortion of the thym MONDO:0002030 "Chronic inflammation of the cervix." "UMLS:C0269062 NCIT:C27057 SCTID:56728002 DOID:1513" NCBITaxon:33682 "GC_ID:1" http://identifiers.org/hgnc/4707 -MONDO:0017692 "UMLS:C0574089 SCTID:297237003 Orphanet:308487 ICD10:E74.2" +MONDO:0017692 "UMLS:C0574089 SCTID:297237003 Orphanet:308487 ICD10CM:E74.2" UBERON:0007807 NCBITaxon:31286 "GC_ID:1" UBERON:0005406 GO:0060688 "Any process that modulates the rate, frequency, or extent of branching morphogenesis, the process in which the anatomical structures of branches are generated and organized." -MONDO:0009113 "A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly." "OMIM:222800 GARD:0001874 DOID:0111630 UMLS:C1291620 NCIT:C131638 Orphanet:714 ICD10:D55.2" +MONDO:0009113 "A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly." "OMIM:222800 GARD:0001874 DOID:0111630 UMLS:C1291620 NCIT:C131638 ICD10CM:D55.2 Orphanet:714" CHEBI:76932 "An enzyme inhibitor that interferes with one or more steps in a metabolic pathway." MONDO:0005170 "Proliferation of myeloid cells originating from a primitive stem cell." "UMLS:C2939461 DOID:0070004 EFO:0002427 ONCOTREE:MYELOID ICDO:9975/1 NCIT:C9290" MONDO:0011127 FOODON:03420178 ENVO:03000010 "A process during which material is displaced from its original location and transported either to a new location or back to the original location." -MONDO:0010979 "Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders." "ICD10:G72.3 Orphanet:768 DOID:0060173 ICD10:I45.8 NCIT:C142894 UMLS:C1832916 Orphanet:65283 MESH:C536962 GARD:0009294 OMIM:601005" +MONDO:0010979 "Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders." "Orphanet:768 DOID:0060173 NCIT:C142894 UMLS:C1832916 ICD10CM:I45.8 Orphanet:65283 MESH:C536962 GARD:0009294 OMIM:601005" MONDO:0011285 "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1." "DOID:0110014 OMIM:603075 MESH:C566411 UMLS:C1864205" UBERON:0004209 CHEBI:26421 "Any organonitrogen heterocyclic compound based on a pyridine skeleton and its substituted derivatives." -MONDO:0005712 "Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)" "EFO:0007217 Orphanet:651 OMIM:164100 OMIMPS:310700 ICD10:H55.01 SCTID:64635004 OMIM:300589 ICD9:379.51 OMIM:300814 MESH:D020417 OMIM:614826 HP:0000639 DOID:9649 OMIM:193003 OMIM:608345" +MONDO:0005712 "Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)" "EFO:0007217 Orphanet:651 OMIM:164100 OMIMPS:310700 ICD10CM:H55.01 SCTID:64635004 OMIM:300589 ICD9:379.51 OMIM:300814 MESH:D020417 OMIM:614826 HP:0000639 DOID:9649 OMIM:193003 OMIM:608345" UBERON:0010344 UBERON:0004208 MONDO:0003995 "A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma." "DOID:6789 UMLS:C1332946 NCIT:C36098" @@ -30521,43 +30502,43 @@ MONDO:0005585 "A form of hypertension that occurs as a direct result of chemothe GO:1905747 "Any process that stops, prevents or reduces the frequency, rate or extent of saliva secretion." CL:0002032 "A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities." MONDO:0003370 "An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells." "NCIT:C27904 UMLS:C2187547 DOID:5284" -MONDO:0004568 "An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction." "NCIT:C93045 UMLS:C0030446 DOID:8442 MESH:D007418 ICD10:K56.0 ICD9:560.1 SCTID:55525008 HP:0002590" +MONDO:0004568 "An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction." "NCIT:C93045 UMLS:C0030446 DOID:8442 MESH:D007418 ICD9:560.1 SCTID:55525008 HP:0002590" http://identifiers.org/hgnc/7458 UBERON:0007806 -MONDO:0017690 "SCTID:237963003 Orphanet:308467 UMLS:C0342745 ICD10:E74.2" +MONDO:0017690 "SCTID:237963003 Orphanet:308467 UMLS:C0342745" UBERON:0005407 MONDO:0014721 -MONDO:0016248 "An instance of ovarian cancer that is caused by an inherited modification of the individual's genome." "Orphanet:213517 UMLS:CN201036 ICD10:C56" +MONDO:0016248 "An instance of ovarian cancer that is caused by an inherited modification of the individual's genome." "Orphanet:213517 UMLS:CN201036 ICD10CM:C56" GO:0042776 "The transport of protons across a mitochondrial membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis." -MONDO:0100344 "OMIM:601678 OMIM:241200 GARD:0000830 ICD10:E26.8 SCTID:700107006 MESH:C537652 DOID:0110142 Orphanet:112 Orphanet:93604 OMIM:300971" +MONDO:0100344 "OMIM:601678 OMIM:241200 GARD:0000830 SCTID:700107006 MESH:C537652 DOID:0110142 Orphanet:112 ICD10CM:E26.8 Orphanet:93604 OMIM:300971" MONDO:0011126 "OMIM:601676" -MONDO:0002639 "A disease involving the glossopharyngeal nerve." "UMLS:C0751941 SCTID:80962007 ICD9:352.2 DOID:3418 ICD9:352 ICD10:G52 NCIT:C27211" -MONDO:0013523 "Orphanet:280576 UMLS:C3151446 GARD:0011008 ICD10:E34.8 OMIM:614008" +MONDO:0002639 "A disease involving the glossopharyngeal nerve." "UMLS:C0751941 SCTID:80962007 ICD9:352.2 DOID:3418 ICD9:352 NCIT:C27211" +MONDO:0013523 "ICD10CM:E34.8 Orphanet:280576 UMLS:C3151446 GARD:0011008 OMIM:614008" CHEBI:15365 "A member of the class of benzoic acids that is salicylic acid in which the hydrogen that is attached to the phenolic hydroxy group has been replaced by an acetoxy group. A non-steroidal anti-inflammatory drug with cyclooxygenase inhibitor activity." MONDO:0012427 "A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2." "GARD:0010586 NCIT:C114768 MESH:C537783 Orphanet:91387 OMIM:610168 Orphanet:60030 DOID:0070234 Orphanet:284973" MONDO:0002892 "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.." "DOID:4151 UMLS:C1335975 NCIT:C5453" UBERON:0010345 UBERON:0006606 GO:0006836 "The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell." -MONDO:0019064 "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs." "Orphanet:685 SCTID:39912006 UMLS:C2931355 MedDRA:10019903 ICD9:334.1 NCIT:C140267 MESH:D015419 DOID:2476 GARD:0006637 OMIMPS:303350 ICD10:G11.4 SCTID:76043009" +MONDO:0019064 "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs." "Orphanet:685 SCTID:39912006 UMLS:C2931355 MedDRA:10019903 ICD9:334.1 ICD10CM:G11.4 NCIT:C140267 MESH:D015419 DOID:2476 GARD:0006637 OMIMPS:303350 SCTID:76043009" MONDO:0012325 "MESH:C536115 OMIM:609643 UMLS:C1864823 GARD:0009754" http://identifiers.org/hgnc/7459 UBERON:0005408 NCBITaxon:451864 "PMID:17051209 PMID:16151185 PMID:15689432 PMID:17572334 GC_ID:1 PMID:17010206" http://identifiers.org/hgnc/20862 -MONDO:0000200 "Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." "OMIM:135500 UMLS:C0796013 Orphanet:3473 GARD:0000385 ICD9:759.89 SCTID:699447001 ICD10:Q87.8 MESH:C536725 OMIMPS:135500 OMIM:616455" +MONDO:0000200 "Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." "OMIM:135500 UMLS:C0796013 Orphanet:3473 GARD:0000385 ICD9:759.89 SCTID:699447001 ICD10CM:Q87.8 MESH:C536725 OMIMPS:135500 OMIM:616455" CL:0002254 "An epithelial cell of the small intestine." "FMA:256159" CHEBI:50268 "A substance that does not act as agonist or antagonist but does affect the gamma-aminobutyric acid receptor-ionophore complex. GABA-A receptors appear to have at least three allosteric sites at which modulators act: a site at which benzodiazepines act by increasing the opening frequency of gamma-aminobutyric acid-activated chloride channels; a site at which barbiturates act to prolong the duration of channel opening; and a site at which some steroids may act." -MONDO:0004881 "A form of myositis that is characterized by the formation of connective tissue within the muscle." "UMLS:C0158362 ICD9:728.81 DOID:9788 ICD10:M60.1 NCIT:C26985 SCTID:55925001" +MONDO:0004881 "A form of myositis that is characterized by the formation of connective tissue within the muscle." "UMLS:C0158362 ICD10CM:M60.1 ICD9:728.81 DOID:9788 NCIT:C26985 SCTID:55925001" MONDO:0001544 "DOID:12529 SCTID:365258000 UMLS:C0154751 ICD9:355.8" -MONDO:0001633 "Blockage of the central retinal artery." "UMLS:C0007688 MESH:D015356 NCIT:C34456 ICD10:H34.1 DOID:13098 ICD9:362.31 SCTID:38742007" +MONDO:0001633 "Blockage of the central retinal artery." "UMLS:C0007688 MESH:D015356 ICD10CM:H34.1 NCIT:C34456 DOID:13098 ICD9:362.31 SCTID:38742007" GO:0006874 "Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell." -MONDO:0002102 "An inflammatory process affecting the lip." "HP:0100825 DOID:1762 MESH:D002613 UMLS:C0007971 SCTID:7847004 ICD10:K13.0 NCIT:C79545" +MONDO:0002102 "An inflammatory process affecting the lip." "HP:0100825 DOID:1762 MESH:D002613 UMLS:C0007971 SCTID:7847004 NCIT:C79545" UBERON:0005400 GO:0061138 "The process in which the anatomical structures of a branched epithelium are generated and organized." UBERON:0005666 -MONDO:0018635 "ICD10:M89.5 Orphanet:444316" -MONDO:0100345 "UMLS:C0022951 DOID:10604 ICD9:271.3 OMIM:223100 NCIT:C3154 SCTID:267425008 ICD10:E73 Orphanet:319681 ICD10:E73.9 EFO:1000062 HP:0004789" +MONDO:0018635 "ICD10CM:M89.5 Orphanet:444316" +MONDO:0100345 "UMLS:C0022951 DOID:10604 ICD9:271.3 OMIM:223100 NCIT:C3154 SCTID:267425008 Orphanet:319681 EFO:1000062 HP:0004789" MONDO:0000346 "DOID:0050522" UBERON:0001709 GO:0008104 "Any process in which a protein is transported to, or maintained in, a specific location." @@ -30570,33 +30551,33 @@ UBERON:0004202 UBERON:0006863 http://identifiers.org/hgnc/1100 CHEBI:33597 "A cyclic compound having as ring members atoms of the same element only." -MONDO:0009677 "Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported." "GARD:0002429 Orphanet:353 UMLS:C0410173 ICD10:G71.0 DOID:0110277 MESH:C535900 OMIM:253700" +MONDO:0009677 "Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported." "GARD:0002429 Orphanet:353 UMLS:C0410173 ICD10CM:G71.0 DOID:0110277 MESH:C535900 OMIM:253700" CL:2000063 "Any fibroblast that is part of a female gonad." -MONDO:0010134 "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." "ICD10:E07.1 OMIM:274600 GARD:0004271 DOID:0060744 MESH:C536648 Orphanet:705 UMLS:C0271829 SCTID:70348004 NCIT:C121745" +MONDO:0010134 "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." "OMIM:274600 GARD:0004271 DOID:0060744 MESH:C536648 ICD10CM:E07.1 Orphanet:705 UMLS:C0271829 SCTID:70348004 NCIT:C121745" MONDO:0000960 "Diabetic angiopathy is a form of angiopathy associated with diabetic complications." "DOID:11713 MESH:D003925 EFO:1000896 ICD9:250.7 SCTID:127014009 NCIT:C35610 UMLS:C0011871 DOID:10182 UMLS:C0011875 ICD9:443.81" UBERON:0001708 UBERON:0005401 CHEBI:33670 MONDO:0002401 "An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well." "UMLS:C1266168 NCIT:C6535 ICDO:9252/3 DOID:2704" UBERON:0005667 -MONDO:0018636 "UMLS:CN237691 Orphanet:444463 ICD10:D61.0" +MONDO:0018636 "UMLS:CN237691 Orphanet:444463 ICD10CM:D61.0" MONDO:0003750 "A germ cell tumor of the central nervous system occurring in children." "UMLS:C0278754 NCIT:C6205 DOID:6052" MONDO:0022220 "A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause." "MEDGEN:57754 UMLS:C0152222 SCTID:37991008 NCIT:C54102" ENVO:01001085 "An aerosol formation process which occurs in an atmosphere." CL:0000307 "An epithelial cell found in the trachea." "FMA:74793" MONDO:0006766 "Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia." "MESH:D020235 EFO:1000944 UMLS:C1510417 DOID:4260 MedDRA:10070635" http://identifiers.org/hgnc/3762 -MONDO:0019831 "Orphanet:95500 ICD10:Q21.1" +MONDO:0019831 "ICD10CM:Q21.1 Orphanet:95500" GO:1903304 "Any process that activates or increases the frequency, rate or extent of pyruvate kinase activity." UBERON:0004203 MONDO:0006281 "A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells." "NCIT:C45514 SCTID:707407001 EFO:1000338 DOID:0080305 ICD9:162.9" UBERON:0004469 UBERON:0006862 -MONDO:0016822 "A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities." "Orphanet:2582 ICD10:M35.8 MedDRA:10014952" +MONDO:0016822 "A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities." "Orphanet:2582 MedDRA:10014952 ICD10CM:M35.8" CHEBI:49020 "A chemical substance which inhibits the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites." NCBITaxon:31285 "GC_ID:1" -MONDO:0008520 "Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported." "SCTID:764437006 Orphanet:1275 OMIM:186550 MESH:C566090 ICD10:Q73.8 GARD:0000966 UMLS:C1861313" -MONDO:0019629 "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea." "HP:0000647 MESH:C565209 OMIM:181700 Orphanet:91490 DOID:0060252 ICD10:Q13.3" +MONDO:0008520 "Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported." "SCTID:764437006 ICD10CM:Q73.8 Orphanet:1275 OMIM:186550 MESH:C566090 GARD:0000966 UMLS:C1861313" +MONDO:0019629 "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea." "HP:0000647 MESH:C565209 OMIM:181700 Orphanet:91490 DOID:0060252" MONDO:0005432 "A drug dependence that is the physiological result of being addicted to alcohol and nicotine." "EFO:0004776" GO:0038065 "A series of molecular signals initiated by collagen binding to a cell surface receptor, and ending with regulation of a downstream cellular process, e.g. transcription." GO:0045935 "Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids." @@ -30604,10 +30585,10 @@ PATO:0001789 "A curvature quality inhering in a bearer by virtue of the bearer's CHEBI:33673 GO:0070011 http://identifiers.org/hgnc/29456 -MONDO:0007208 "Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing." "SCTID:254054000 Orphanet:1263 UMLS:C0432201 DOID:0050680 MESH:C536573 GARD:0000933 OMIM:112310 ICD9:756.9 ICD10:Q87.1" -MONDO:0015774 "Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported." "Orphanet:1759 ICD10:Q43.4 GARD:0005181 SCTID:733628001" +MONDO:0007208 "Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing." "SCTID:254054000 Orphanet:1263 UMLS:C0432201 DOID:0050680 MESH:C536573 ICD10CM:Q87.1 GARD:0000933 OMIM:112310 ICD9:756.9" +MONDO:0015774 "Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported." "Orphanet:1759 GARD:0005181 SCTID:733628001 ICD10CM:Q43.4" UBERON:0010349 -MONDO:0100347 "SCTID:35868009 ICD10:E34.0 MedDRA:10007270 ICD9:259.2 EFO:1000852 GARD:0005994 NCIT:C3215 Orphanet:100093" +MONDO:0100347 "SCTID:35868009 ICD10CM:E34.0 MedDRA:10007270 ICD9:259.2 EFO:1000852 GARD:0005994 NCIT:C3215 Orphanet:100093" NCBITaxon:262 "PMID:8123561 PMID:19783615 GC_ID:11" CHEBI:50406 "A role played by a molecular entity used to study the microscopic environment." GO:2001259 "Any process that activates or increases the frequency, rate or extent of cation channel activity." @@ -30615,8 +30596,8 @@ MONDO:0012767 "Any age-related macular degeneration in which the cause of the di CL:0002258 "A cell type that varies from squamous to columnar, depending on their activity with microvillus directed luminally. This cell produces and secretes thyroid hormones." "FMA:68782 BTO:0003736 CALOHA:TS-1285" GO:0002796 "Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide secretion." UBERON:0004204 -MONDO:0012737 "Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene." "ICD10:I45.8 Orphanet:334 OMIM:611819 MESH:C567514 UMLS:C2678484 Orphanet:101016 DOID:0110651 GARD:0010436 Orphanet:768" -MONDO:0016563 "PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." "ICD10:G23.1 UMLS:CN201681 Orphanet:240103" +MONDO:0012737 "Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene." "Orphanet:334 OMIM:611819 MESH:C567514 UMLS:C2678484 Orphanet:101016 DOID:0110651 GARD:0010436 Orphanet:768" +MONDO:0016563 "PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." "ICD10CM:G23.1 UMLS:CN201681 Orphanet:240103" GO:1902679 "Any process that stops, prevents or reduces the frequency, rate or extent of RNA biosynthetic process." MONDO:0019834 "Orphanet:95505" MONDO:0025712 "OMIM:619360" @@ -30625,104 +30606,104 @@ UBERON:0006861 MONDO:0023579 "GARD:0003151 MESH:C538125 UMLS:C2931740" MONDO:0021636 "A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma." "Orphanet:94 SCTID:99131000119108 MedDRA:10003571 OMIM:137800 DOID:3069 MESH:D001254 EFO:0000272 NCIT:C6958 NCIT:C4951" UBERON:0005669 -MONDO:0009329 "A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." "MESH:C535861 Orphanet:199241 SCTID:233949008 UMLS:C0340548 GARD:0008527 ICD10:D18.0 OMIM:234810 ICD9:416.8" +MONDO:0009329 "A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal." "MESH:C535861 Orphanet:199241 SCTID:233949008 UMLS:C0340548 GARD:0008527 OMIM:234810 ICD10CM:D18.0 ICD9:416.8" PO:0009009 "A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631)." "PO_GIT:92" -MONDO:0005631 "Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious." "DOID:8478 MESH:D000196 SCTID:11817007 ICD10:A42 NCIT:C34350 ICD10:A42.9 ICD10:A42.0 ICD10:A42.7 EFO:0007128 ICD10:A42.1 GARD:0005728 UMLS:C0001261 ICD10:A42.8 ICD9:039.9 ICD10:A42.2 ICD9:039 Orphanet:457095" -MONDO:0010518 "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." "UMLS:C0043194 OMIM:600903 DOID:9169 MESH:D014923 Orphanet:906 OMIM:614493 OMIM:301000 ICD9:279.12 NCIT:C3448 GARD:0007895 ICD10:D82.0 SCTID:36070007 MedDRA:10047992" +MONDO:0005631 "Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious." "ICD10CM:A42.8 ICD10CM:A42.2 DOID:8478 MESH:D000196 SCTID:11817007 NCIT:C34350 EFO:0007128 ICD10CM:A42.1 ICD10CM:A42.0 ICD10CM:A42.7 GARD:0005728 UMLS:C0001261 ICD9:039.9 ICD9:039 Orphanet:457095" +MONDO:0010518 "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." "UMLS:C0043194 OMIM:600903 DOID:9169 MESH:D014923 Orphanet:906 OMIM:614493 OMIM:301000 ICD10CM:D82.0 ICD9:279.12 NCIT:C3448 GARD:0007895 SCTID:36070007 MedDRA:10047992" GO:0002684 "Any process that activates or increases the frequency, rate, or extent of an immune system process." MONDO:0005017 "An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration." "NCIT:C4127 ONCOTREE:DSTAD NCIT:C9159 EFO:0000402 DOID:6217" MONDO:0024512 "OMIMPS:106300 UMLS:CN118840" UBERON:0004205 MONDO:0010182 "MESH:C567486 OMIM:277350 Orphanet:199285 UMLS:C2678266" MONDO:0009086 "Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis)." "MESH:C537305 UMLS:C1857338 Orphanet:3217 GARD:0002568 OMIM:221400 SCTID:733071009" -MONDO:0005593 "A chronic inflammatory process that affects the tissues that surround and support the teeth." "ICD10:K05.3 MESH:D055113 NCIT:C35326 ICD9:523.40 UMLS:C0266929 EFO:0006343 ICD9:523.4 OMIM:260950 OMIM:170650 SCTID:5689008" +MONDO:0005593 "A chronic inflammatory process that affects the tissues that surround and support the teeth." "MESH:D055113 NCIT:C35326 ICD9:523.40 UMLS:C0266929 EFO:0006343 ICD9:523.4 OMIM:260950 SCTID:5689008 OMIM:170650 ICD10CM:K05.3" MONDO:0003062 "A benign neoplasm that involves the intestine." "UMLS:C0347269 SCTID:92151003 NCIT:C4609" CL:0000622 "A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus)." "FMA:83625" -MONDO:0011558 "A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner." "MESH:C536492 DOID:0110839 GARD:0008497 NCIT:C153174 ICD10:H35.5 Orphanet:886 OMIM:605472 Orphanet:231178" +MONDO:0011558 "A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner." "MESH:C536492 DOID:0110839 GARD:0008497 NCIT:C153174 Orphanet:886 OMIM:605472 Orphanet:231178" http://identifiers.org/hgnc/1101 MONDO:0019833 "Orphanet:95503 UMLS:CN206780" MONDO:0000677 "An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object." "DOID:0060147" MONDO:0015068 "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum." "UMLS:CN197361 NCIT:C135213" UBERON:0035539 -MONDO:0017359 "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine." "UMLS:C3696376 NCIT:C98678 ICD10:E71.1 OMIMPS:250950 SCTID:237950009 ICD10:E71.111 DOID:0060336 MESH:C579867 Orphanet:289902" +MONDO:0017359 "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine." "UMLS:C3696376 ICD10CM:E71.1 NCIT:C98678 ICD10CM:E71.111 OMIMPS:250950 SCTID:237950009 DOID:0060336 MESH:C579867 Orphanet:289902" UBERON:0001705 http://identifiers.org/hgnc/2568 UBERON:0003267 MONDO:0014167 "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene." "OMIM:615400 Orphanet:86814 UMLS:C3809374 DOID:0111691" -MONDO:0020552 "Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage." "UMLS:C0206666 ICDO:9104/1 DOID:3596 NCIT:C3757 ICD10:D39.2 MESH:D018245 EFO:1001111 SCTID:237252008 ONCOTREE:PSTT Orphanet:99928" -MONDO:0018897 "ICD10:C86.6 MedDRA:10065863 UMLS:C1301362 Orphanet:541 UMLS:CN205268 MESH:D054446" +MONDO:0020552 "Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage." "ICD10CM:D39.2 UMLS:C0206666 ICDO:9104/1 DOID:3596 NCIT:C3757 MESH:D018245 EFO:1001111 SCTID:237252008 ONCOTREE:PSTT Orphanet:99928" +MONDO:0018897 "MedDRA:10065863 UMLS:C1301362 Orphanet:541 UMLS:CN205268 MESH:D054446" UBERON:0005662 CHR:9606-chr4q2 -MONDO:0016574 "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterised by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit." "Orphanet:2435 GARD:0003347 SCTID:733469003 UMLS:C1835172 MESH:C537836" +MONDO:0016574 "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterised by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit." "Orphanet:2435 GARD:0003347 OMIM:154000 SCTID:733469003 UMLS:C1835172 MESH:C537836" PO:0025023 "A collective plant organ structure (PO:0025007) that consists of two or more phyllomes (PO:0006001) originating from the same node or from one or more adjacent nodes with compressed shoot internodes (PO:0005005)." "PO_GIT:90 PO_GIT:99" NCIT:C16273 "Consumption of liquids containing ethanol, including the behaviors associated with drinking the alcohol." http://identifiers.org/hgnc/3765 UBERON:0002069 UBERON:0006601 MONDO:0003548 "An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation." "UMLS:C1510796 DOID:5623 NCIT:C40361 ONCOTREE:MASC" -MONDO:0017699 "OMIM:232500 Orphanet:308684 ICD10:E74.0 MedDRA:10053250" +MONDO:0017699 "OMIM:232500 Orphanet:308684 MedDRA:10053250 ICD10CM:E74.0" MONDO:0017433 "Orphanet:294957" UBERON:0004464 MONDO:0040566 "An acquired metabolic disease that is has its basis in the disruption of glutathione metabolic process." "SCTID:72262000 UMLS:C0268518" http://identifiers.org/hgnc/2567 http://identifiers.org/hgnc/4964 -MONDO:0018632 "Orphanet:444002 UMLS:CN237678 ICD10:Q93.5" +MONDO:0018632 "Orphanet:444002 UMLS:CN237678 ICD10CM:Q93.5" CHEBI:33860 "An amino compound in which the amino group is linked directly to an aromatic system." MONDO:0016235 "Orphanet:211277" NCBITaxon:319546 "PMID:15766388 GC_ID:11" GO:0120034 "Any process that activates or increases the frequency, rate or extent of plasma membrane bounded cell projection assembly." UBERON:0002068 UBERON:0004465 -MONDO:0024644 "A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction)." "MESH:D017202 EFO:1001375 UMLS:C0151744 NCIT:C50625 ICD10:I20.I25 SCTID:414545008" +MONDO:0024644 "A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction)." "MESH:D017202 EFO:1001375 ICD10CM:I20-I25 UMLS:C0151744 NCIT:C50625 SCTID:414545008" UBERON:0006866 MONDO:0024519 "GARD:0004791 Orphanet:411709 OMIM:191830" -MONDO:0001187 "A primary or metastatic malignant neoplasm involving the bladder." "UMLS:C0005684 ICD9:188.9 ICD9:188.8 DOID:11054 NCIT:C9334 KEGG:05219 UMLS:C0005695 ICD10:C67.9 NCIT:C2901 Orphanet:157980 OMIM:109800 SCTID:399326009 ICD9:188 ICD10:C67 SCTID:126885006" +MONDO:0001187 "A primary or metastatic malignant neoplasm involving the bladder." "UMLS:C0005684 ICD9:188.9 ICD9:188.8 DOID:11054 NCIT:C9334 KEGG:05219 UMLS:C0005695 NCIT:C2901 Orphanet:157980 OMIM:109800 SCTID:399326009 ICD9:188 SCTID:126885006" MONDO:0021050 "A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma." "NCIT:C3437 ONCOTREE:VULVA EFO:1001447 ICD9:239.5 SCTID:126921000" MONDO:0025713 "OMIM:619366" MONDO:0017434 "UMLS:CN203181 Orphanet:294959" -MONDO:0005771 "A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment." "ICD10:K14.1 SCTID:59032001 UMLS:C0017677 OMIM:137400 NCIT:C84588 EFO:0007283 ICD9:529.1 DOID:1455" +MONDO:0005771 "A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment." "SCTID:59032001 ICD10CM:K14.1 UMLS:C0017677 OMIM:137400 NCIT:C84588 EFO:0007283 ICD9:529.1 DOID:1455" GO:0051253 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving RNA." MONDO:0100395 "Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)" "NCIT:C131502 NCIT:C131503" UBERON:0003269 UBERON:0001707 UBERON:0005664 -MONDO:0020527 "Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor." "UMLS:CN207427 Orphanet:99889 DOID:0060890 ICD10:E24.3" -MONDO:0002289 "A disease involving the iris." "DOID:240 MESH:D007499 NCIT:C34737 UMLS:C0022078 SCTID:85478004" -MONDO:0006898 "Inflammation of the tissues around a joint. (Dorland, 27th ed)" "EFO:1001097 SCTID:50921008 MESH:D010489 MedDRA:10034464 DOID:2964 UMLS:C0031037 ICD10:M77.9" -MONDO:0004608 "A primary or metastatic malignant neoplasm that affects the oropharynx." "ICD10:C10 UMLS:C3165521 ICD10:C10.8 UMLS:C0153389 UMLS:C2349952 ICD9:146.9 UMLS:C0153390 UMLS:C0153382 ICD9:146.6 NCIT:C7398 ICD10:C10.3 EFO:1001931 ICD10:C10.9 DOID:8557 MESH:D009959 GARD:0009358 ICD9:146.5 ICD9:146 ICD10:C10.2 ICD9:146.7" +MONDO:0020527 "Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor." "UMLS:CN207427 Orphanet:99889 DOID:0060890 ICD10CM:E24.3" +MONDO:0002289 "A disease involving the iris." "DOID:240 MESH:D007499 NCIT:C34737 UMLS:C0022078 ICD10CM:H15-H22 SCTID:85478004" +MONDO:0006898 "Inflammation of the tissues around a joint. (Dorland, 27th ed)" "EFO:1001097 SCTID:50921008 MESH:D010489 MedDRA:10034464 DOID:2964 UMLS:C0031037" +MONDO:0004608 "A primary or metastatic malignant neoplasm that affects the oropharynx." "UMLS:C3165521 UMLS:C0153389 UMLS:C2349952 ICD9:146.9 UMLS:C0153390 UMLS:C0153382 ICD9:146.6 NCIT:C7398 EFO:1001931 DOID:8557 MESH:D009959 GARD:0009358 ICD9:146.5 ICD9:146 ICD10CM:C10 ICD9:146.7" GO:0048593 "The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field." ENVO:09000008 "The concentration of a carbon atom when measured in soil." ECTO:0000523 "An exposure to mutagen." UBERON:0004466 GO:0048519 "Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule." http://identifiers.org/hgnc/3767 -MONDO:0019830 "Orphanet:95499 ICD9:747.49 ICD10:Q26.9 SCTID:81577001" +MONDO:0019830 "Orphanet:95499 ICD9:747.49 SCTID:81577001 ICD10CM:Q26.9" UBERON:0006865 -MONDO:0015366 "Autosomal recessive form of hereditary sensory and autonomic neuropathy." "UMLS:CN228933 Orphanet:140477 ICD10:G60.8" -MONDO:0021146 "Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" "MESH:D020773 SCTID:230461009" +MONDO:0015366 "Autosomal recessive form of hereditary sensory and autonomic neuropathy." "ICD10CM:G60.8 UMLS:CN228933 Orphanet:140477" +MONDO:0021146 "Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" "MESH:D020773 SCTID:230461009 ICD10CM:G40-G47" UBERON:0004200 GO:1904782 "Any process that stops, prevents or reduces the frequency, rate or extent of NMDA glutamate receptor activity." -MONDO:0017697 "OMIM:232500 Orphanet:308655 ICD10:E74.0 UMLS:C1856303" +MONDO:0017697 "OMIM:232500 Orphanet:308655 UMLS:C1856303 ICD10CM:E74.0" MONDO:0017431 "Orphanet:294953" UBERON:0003268 -MONDO:0024378 "A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal." "SCTID:31537005 ICD10:G47.22 ICD9:327.32" -MONDO:0019080 "Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." "OMIM:300042 OMIM:104000 UMLS:C0263504 ICD10:L63.0 Orphanet:700 MedDRA:10001766 OMIM:610753 ICD9:704.09 GARD:0000613 SCTID:19754005" +MONDO:0024378 "A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal." "SCTID:31537005 ICD10CM:G47.22 ICD9:327.32" +MONDO:0019080 "Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." "OMIM:300042 OMIM:104000 UMLS:C0263504 Orphanet:700 MedDRA:10001766 OMIM:610753 ICD9:704.09 GARD:0000613 SCTID:19754005" MONDO:0011384 "OMIM:603918" -MONDO:0003473 "An ependymoma that arises from the spinal cord." "SCTID:254949006 NCIT:C3875 DOID:5503 UMLS:C0238432" +MONDO:0003473 "An ependymoma that arises from the spinal cord." "NCIT:C3875 SCTID:254949006 DOID:5503 UMLS:C0238432" UBERON:0005665 MONDO:0014937 "SCTID:253232000 OMIM:617141 MESH:C536372" MONDO:0009337 "Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene." "UMLS:C0340834 UMLS:C4012050 OMIM:235510 Orphanet:2136" MONDO:0016233 "UMLS:CN200997 Orphanet:211255" MONDO:0008583 "A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation." "ICD9:723.5 MESH:C535425 NCIT:C4811 SCTID:70070008 SCTID:268240006 HP:0000473 OMIM:189600 GARD:0004908" UBERON:0004467 -MONDO:0011296 "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene." "GARD:0008743 OMIM:603194 MESH:C536131 DOID:0070116 ICD10:Q61.9 Orphanet:564 UMLS:C1864148" +MONDO:0011296 "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene." "GARD:0008743 OMIM:603194 MESH:C536131 DOID:0070116 Orphanet:564 UMLS:C1864148" HsapDv:0000133 "Adult stage that refers to an adult who is over 39 and under 40." MONDO:0012583 "Orphanet:99798 UMLS:C1858210 OMIM:610926 MESH:C565757" UBERON:0006864 MONDO:0024517 "OMIM:162091 Orphanet:93921 UMLS:C4048809" NCBITaxon:1257 "PMID:11491354 GC_ID:11" -MONDO:0017698 "ICD10:E74.0 OMIM:232500 Orphanet:308670 UMLS:C1856304" -MONDO:0008978 "Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton." "OMIM:215400 UMLS:C0008487 GARD:0001303 DOID:3302 ICDO:9370/3 Orphanet:178 ONCOTREE:CHDM MESH:D002817 MedDRA:10008747 HP:0010762 NCIT:C2947 ICD10:C76.7" +MONDO:0017698 "OMIM:232500 Orphanet:308670 UMLS:C1856304 ICD10CM:E74.0" +MONDO:0008978 "Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton." "OMIM:215400 UMLS:C0008487 GARD:0001303 DOID:3302 ICDO:9370/3 Orphanet:178 ONCOTREE:CHDM MESH:D002817 MedDRA:10008747 HP:0010762 NCIT:C2947" MONDO:0017432 "UMLS:CN203180 Orphanet:294955" GO:0004030 "Catalysis of the reaction: an aldehyde + NAD(P)+ + H2O = an acid + NAD(P)H + H+." http://identifiers.org/hgnc/34399 @@ -30731,42 +30712,42 @@ CL:0002608 "A neuron of the hippocampus." NCBITaxon:37104 "PMID:20093080 GC_ID:1" http://identifiers.org/hgnc/6251 UBERON:0001701 -MONDO:0008811 "XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance." "GARD:0000424 UMLS:C0795952 SCTID:277921008 MESH:C536767 OMIM:207770 ICD10:Q04.3 Orphanet:3469" +MONDO:0008811 "XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance." "GARD:0000424 UMLS:C0795952 SCTID:277921008 MESH:C536767 OMIM:207770 ICD10CM:Q04.3 Orphanet:3469" MONDO:0017414 "OBSOLETE. Rare nevus." "Orphanet:294057" http://identifiers.org/hgnc/26944 CHEBI:33679 MONDO:0018619 -MONDO:0014029 "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene." "DOID:0110343 OMIM:615066 Orphanet:666 UMLS:C3554428 Orphanet:216820 ICD10:Q78.0" +MONDO:0014029 "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene." "ICD10CM:Q78.0 DOID:0110343 UMLS:C3554428 OMIM:615066 Orphanet:666 Orphanet:216820" GO:0033006 "Any process that modulates the frequency, rate, or extent of mast cell activation as part of an immune response." MONDO:0023561 "GARD:0003131 MESH:C537023 UMLS:C2931397" MONDO:0020589 "A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors." "NCIT:C147005" GO:0014054 "Any process that activates or increases the frequency, rate or extent of the regulated release of gamma-aminobutyric acid." UBERON:0001700 -MONDO:0019816 "Orphanet:95463 ICD10:Q22.8" -MONDO:0005459 "A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." "GARD:0007826 DOID:10112 MedDRA:10001461 EFO:0005225 SCTID:27031003 ICD10:B56 KEGG:05143 ICD10:B56.9 NCIT:C84541 MESH:D014353 SCTID:78940002 ICD10:B56.0 ICD10:B56.1 ICD9:086.5 Orphanet:3385 UMLS:C0041228" +MONDO:0019816 "ICD10CM:Q22.8 Orphanet:95463" +MONDO:0005459 "A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death." "GARD:0007826 ICD10CM:B56.0 DOID:10112 MedDRA:10001461 EFO:0005225 SCTID:27031003 KEGG:05143 NCIT:C84541 MESH:D014353 ICD10CM:B56.9 SCTID:78940002 ICD10CM:B56 ICD9:086.5 Orphanet:3385 UMLS:C0041228 ICD10CM:B56.1" MONDO:0014534 "Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene." "OMIM:616212" MONDO:0007651 "MESH:C535651 UMLS:C1850899 GARD:0002438 Orphanet:2069 OMIM:137270" MONDO:0004402 "A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures." "UMLS:C1515305 DOID:7930 NCIT:C39926" http://identifiers.org/hgnc/6250 CL:0000502 "A cell found throughout the gastrointestinal tract and in the pancreas. They secrete somatostatin in both an endocrine and paracrine manner. Somatostatin inhibits gastrin, cholecystokinin, insulin, glucagon, pancreatic enzymes, and gastric hydrochloric acid. A variety of substances which inhibit gastric acid secretion (vasoactive intestinal peptide, calcitonin gene-related peptide, cholecystokinin, beta-adrenergic agonists, and gastric inhibitory peptide) are thought to act by releasing somatostatin." "FMA:62935" -MONDO:0006277 "Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." "OMIM:606690 GARD:0003319 ICD10:D48.7 Orphanet:538 MedDRA:10049459 NCIT:C38153 DOID:3319 ICD9:518.89 SCTID:277844007 EFO:1000334 ONCOTREE:LAM MESH:D018192" +MONDO:0006277 "Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." "OMIM:606690 GARD:0003319 Orphanet:538 MedDRA:10049459 NCIT:C38153 ICD10CM:D48.7 DOID:3319 ICD9:518.89 SCTID:277844007 EFO:1000334 ONCOTREE:LAM MESH:D018192" GO:0031667 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients." -MONDO:0018311 "Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life." "GARD:0004500 ICD10:L81.4 SCTID:239089006 ICD9:709.09 Orphanet:39" -MONDO:0010180 "Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." "MESH:C535781 OMIM:616566 OMIM:608681 OMIM:609813 ICD9:756.9 SCTID:61367005 OMIM:613686 Orphanet:2311 UMLS:CN032975 ICD10:Q76.8" +MONDO:0018311 "Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life." "GARD:0004500 SCTID:239089006 ICD9:709.09 Orphanet:39 ICD10CM:L81.4" +MONDO:0010180 "Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine." "MESH:C535781 OMIM:616566 OMIM:608681 ICD10CM:Q76.8 OMIM:609813 ICD9:756.9 SCTID:61367005 OMIM:613686 Orphanet:2311 UMLS:CN032975 OMIM:277300" UBERON:0003262 MONDO:0008030 "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene." "MESH:C536391 DOID:0111192 Orphanet:269 GARD:0009941 OMIM:158900" GO:2000253 "Any process that activates or increases the frequency, rate or extent of feeding behavior." FOODON:03412972 -MONDO:0018034 "A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment." "UMLS:C0432365 ICD9:759.89 SCTID:36193003 NCIT:C99082 ICD10:Q86.8 GARD:0002313 Orphanet:3312 MedDRA:10071249" +MONDO:0018034 "A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment." "UMLS:C0432365 ICD9:759.89 SCTID:36193003 NCIT:C99082 GARD:0002313 ICD10CM:Q86.8 Orphanet:3312 MedDRA:10071249" MONDO:0013072 "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene." "DOID:0070250 Orphanet:98853 Orphanet:261 UMLS:C2751805 OMIM:612999" -MONDO:0010542 "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene." "SCTID:702424003 OMIM:302045 DOID:0060561 DOID:0110461 MESH:C580047 ICD9:425.4 ICD10:I42.0 UMLS:C3668940" +MONDO:0010542 "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene." "SCTID:702424003 OMIM:302045 DOID:0060561 DOID:0110461 MESH:C580047 ICD9:425.4 ICD10CM:I42.0 UMLS:C3668940" MONDO:0000659 "A heavy chain disease that results from an overproduction of delta antibody (IgD)." "ICD9:203.80 DOID:0060129 UMLS:C0272253 SCTID:20224008" -MONDO:0019665 "Fibrous dysplasia of bone involving only one bone." "NCIT:C53971 ICD10:M85.0 HP:0010736 MESH:D005358 ICD9:733.29 UMLS:C0016064 ICD10:Q78.1 Orphanet:93277 SCTID:89859004" -MONDO:0002134 "Physiological disturbances in normal sexual performance in either the male or the female." "DOID:1876 UMLS:C0549622 ICD10:R37 ICD10:F52.9 MESH:D012735 NCIT:C3347 SCTID:231532002" -MONDO:0018528 "Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features." "SCTID:763315005 Orphanet:424107 ICD10:G71.2" +MONDO:0019665 "Fibrous dysplasia of bone involving only one bone." "NCIT:C53971 HP:0010736 MESH:D005358 ICD9:733.29 UMLS:C0016064 Orphanet:93277 ICD10CM:Q78.1 SCTID:89859004" +MONDO:0002134 "Physiological disturbances in normal sexual performance in either the male or the female." "DOID:1876 UMLS:C0549622 MESH:D012735 NCIT:C3347 SCTID:231532002" +MONDO:0018528 "Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features." "SCTID:763315005 ICD10CM:G71.2 Orphanet:424107" UBERON:0004461 ENVO:01000304 "A high pressure environment is an environment in which all material entities are exposed to a high ratio of force per unit area." -MONDO:0005888 "Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans." "EFO:0007410 MESH:D009956 SCTID:75116005 ICD9:073 ICD9:073.9 NCIT:C34873 GARD:0007492 DOID:11262 UMLS:C0029291 ICD10:A70" +MONDO:0005888 "Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans." "EFO:0007410 MESH:D009956 SCTID:75116005 ICD9:073 ICD9:073.9 NCIT:C34873 GARD:0007492 DOID:11262 UMLS:C0029291" NCBITaxon:1891714 "GC_ID:1" MONDO:0009962 "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene." "ICD9:759.89 SCTID:236531005 Orphanet:3156 OMIM:266900" CHEBI:63436 "A carbohydrate derivative that is formally obtained from a carbohydrate acid." @@ -30774,46 +30755,46 @@ UBERON:0001703 UBERON:0001969 UBERON:0005660 UBERON:0003265 -MONDO:0013146 "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene." "ICD10:I49.8 OMIM:613120 DOID:0110224 Orphanet:130 UMLS:C2751088 Orphanet:334 MESH:C567734" +MONDO:0013146 "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene." "OMIM:613120 DOID:0110224 Orphanet:130 UMLS:C2751088 Orphanet:334 MESH:C567734" MONDO:0013286 "Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene." "UMLS:C3150741 Orphanet:1572 OMIM:613496" UBERON:0002067 -MONDO:0014740 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene." "UMLS:C4225240 OMIM:616707 DOID:0110589 ICD10:H90.3" +MONDO:0014740 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene." "UMLS:C4225240 OMIM:616707 DOID:0110589" MONDO:0002954 "A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors." "DOID:4300 ICDO:8091/3 UMLS:C0334256 NCIT:C4108 SCTID:403914000" HP:0001331 "Absence of the septum pellucidum." "SNOMEDCT_US:253143001 MSH:C535562 UMLS:C0431371" -MONDO:0019407 "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1." "OMIM:618150 Orphanet:85172 ICD10:Q78.8 DOID:0111673" +MONDO:0019407 "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1." "OMIM:618150 Orphanet:85172 ICD10CM:Q78.8 DOID:0111673" MONDO:0043723 "Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." "EFO:1001373 SCTID:123973009 MESH:D009011" MONDO:0007022 "Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli." "MedDRA:10074389 SCTID:38898003 UMLS:C0034188 MESH:D011705 GARD:0012021 ICD9:582.89 EFO:1001244 NCIT:C123038 DOID:11401" HP:0003418 "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back." "SNOMEDCT_US:161891005 UMLS:C0004604 MSH:D001416" UBERON:0004462 -MONDO:0019818 "Orphanet:95465 ICD10:Q23.3" +MONDO:0019818 "Orphanet:95465 ICD10CM:Q23.3" UBERON:0001968 -MONDO:0020356 "A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris." "GARD:0001434 SCTID:9446007 NCIT:C98879 Orphanet:98944 HP:0000612 ICD10:Q13.0 MedDRA:10052642 OMIM:120200" +MONDO:0020356 "A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris." "GARD:0001434 SCTID:9446007 NCIT:C98879 Orphanet:98944 HP:0000612 OMIM:120200 MedDRA:10052642" MONDO:0024352 "A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus." "SCTID:312133006 NCIT:C27219 ICD9:519.8" MONDO:0007653 "GARD:0010621 SCTID:389264005 Orphanet:93398 OMIM:137360 UMLS:C1300229 Orphanet:85197 MESH:C563215" UBERON:0005661 -MONDO:0009211 "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." "MESH:D005168 UMLS:C1394919 GARD:0002238 OMIM:227500 SCTID:37193007 Orphanet:327 NCIT:C131631 MedDRA:10016079 ICD10:D68.2 DOID:2215" -MONDO:0013688 "Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism." "NCIT:C3924 GARD:0011004 ICD10:L81.4 UMLS:C0263579 OMIM:614323 UMLS:C1304501 Orphanet:79150 SCTID:403803002" +MONDO:0009211 "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." "MESH:D005168 ICD10CM:D68.2 UMLS:C1394919 GARD:0002238 OMIM:227500 SCTID:37193007 Orphanet:327 NCIT:C131631 MedDRA:10016079 DOID:2215" +MONDO:0013688 "Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism." "ICD10CM:L81.4 NCIT:C3924 GARD:0011004 UMLS:C0263579 OMIM:614323 UMLS:C1304501 Orphanet:79150 SCTID:403803002" MONDO:0018618 "Orphanet:443090" MONDO:0006402 "A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients." "EFO:1000515 ICDO:8147/3 NCIT:C3678" MONDO:0044795 "A nevus characterized by the presence of large epithelioid melanocytes." "NCIT:C66757 UMLS:C0259820" GO:1904251 "Any process that modulates the frequency, rate or extent of bile acid metabolic process." MONDO:0009237 "Hyperplasia characterized by the presence of a focal proliferation of epithelial cells." "NCIT:C97083 EFO:0007275 ICD9:528.79 DOID:5362 SCTID:6121001 OMIM:229045 UMLS:C0206067 MESH:D017573" -MONDO:0019817 "Orphanet:95464 ICD10:Q23.3 ICD10:Q23 ICD10:Q23.2" +MONDO:0019817 "ICD10CM:Q23.2 ICD10CM:Q23 ICD10CM:Q23.3 Orphanet:95464" HsapDv:0000114 "Young adult stage that refers to an adult who is over 20 and under 21." UBERON:0004463 MONDO:0012553 "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene." "Orphanet:1466 OMIM:610756 MESH:C565185 UMLS:C1853102 Orphanet:191" CL:0000895 "An antigen inexperienced CD4-positive, alpha-beta T cell with the phenotype CCR7-positive, CD127-positive and CD62L-positive. This cell type develops in the thymus. This cell type is also described as being CD25-negative, CD62L-high, and CD44-low." MONDO:0007728 "Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene." "UMLS:CN028850 OMIM:142690" -MONDO:0005336 "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness." "MESH:D009135 ICD9:359.8 ICD10:M62.9 SCTID:129565002 ICD10:G72.9 ICD9:728.3 UMLS:C0026848 NCIT:C101216 OMIM:181430 ICD9:359.9 EFO:0004145 ICD10:M60-M63 OMIM:300695 DOID:423" -MONDO:0016167 "Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1)." "ICD10:D33.3 UMLS:C0796418 GARD:0004107 NCIT:C8567 Orphanet:2086" -MONDO:0007298 "Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." "UMLS:C1861732 SCTID:715825009 OMIM:117360 UMLS:C4274987 ICD10:G11.0 DOID:0050978 Orphanet:208513 GARD:0010480 MESH:C537206" -MONDO:0001166 "Inflammation of renal tissue." "ICD9:583.9 UMLS:C0027697 SCTID:52845002 MESH:D009393 NCIT:C26833 DOID:10952 ICD10:N05 ICD9:583.89 ICD9:583.7 ICD10:N08" +MONDO:0005336 "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness." "MESH:D009135 ICD9:359.8 SCTID:129565002 ICD9:728.3 UMLS:C0026848 NCIT:C101216 OMIM:181430 ICD9:359.9 EFO:0004145 OMIM:300695 DOID:423" +MONDO:0016167 "Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1)." "UMLS:C0796418 ICD10CM:D33.3 GARD:0004107 NCIT:C8567 Orphanet:2086" +MONDO:0007298 "Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability." "UMLS:C1861732 SCTID:715825009 OMIM:117360 UMLS:C4274987 DOID:0050978 Orphanet:208513 ICD10CM:G11.0 GARD:0010480 MESH:C537206" +MONDO:0001166 "Inflammation of renal tissue." "ICD9:583.9 UMLS:C0027697 SCTID:52845002 MESH:D009393 NCIT:C26833 DOID:10952 ICD9:583.89 ICD9:583.7" http://identifiers.org/hgnc/603 HP:0001966 "An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries." "UMLS:C4025733" -MONDO:0015731 "High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence." "SCTID:253771003 ICD10:Q42.0 ICD9:751.5 Orphanet:171201 ICD10:Q42.1" +MONDO:0015731 "High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence." "SCTID:253771003 ICD10CM:Q42.1 ICD10CM:Q42.0 ICD9:751.5 Orphanet:171201" GO:0033005 "Any process that activates or increases the frequency, rate, or extent of mast cell activation." NCBITaxon:62324 "GC_ID:1" -MONDO:0008116 "Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." "SCTID:77097004 MedDRA:10052181 MESH:D039141 DOID:11719 GARD:0007245 OMIM:164300 NCIT:C84942 ICD10:G71.0 UMLS:C0270952 Orphanet:270" +MONDO:0008116 "Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." "SCTID:77097004 MedDRA:10052181 MESH:D039141 DOID:11719 GARD:0007245 OMIM:164300 ICD10CM:G71.0 NCIT:C84942 UMLS:C0270952 Orphanet:270" CL:0002594 "A smooth muscle cell of the umbilical artery." MONDO:0010422 "An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3." "MESH:C567463 OMIM:300756 UMLS:C2677888 DOID:0110036" MONDO:0005479 "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)" "NCIT:C35481 ICD9:427.89 SCTID:276796006 EFO:0005308" @@ -30822,26 +30803,26 @@ GO:0051781 "Any process that activates or increases the frequency, rate or exten MONDO:0019812 UBERON:0002061 HP:0000822 "The presence of chronic increased pressure in the systemic arterial system." "UMLS:C0020538 MSH:D006973 SNOMEDCT_US:24184005 SNOMEDCT_US:38341003 UMLS:C0497247" -MONDO:0009609 "Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine." "GARD:0002733 Orphanet:622 Orphanet:2170 ICD10:E72.1 GARD:0003577 EFO:0005597 SCTID:721187005 OMIM:250940 DOID:0050733" +MONDO:0009609 "Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine." "GARD:0002733 Orphanet:622 Orphanet:2170 ICD10CM:E72.1 GARD:0003577 EFO:0005597 SCTID:721187005 OMIM:250940 DOID:0050733" MONDO:0016742 "A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia." "UMLS:CN201989 Orphanet:252021 UMLS:C1334785 NCIT:C7016" -MONDO:0007159 "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed." "SCTID:720515009 UMLS:C1862471 Orphanet:1144 GARD:0000784 OMIM:108200 MESH:C535386 ICD10:Q68.8" +MONDO:0007159 "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed." "SCTID:720515009 UMLS:C1862471 Orphanet:1144 GARD:0000784 OMIM:108200 MESH:C535386 ICD10CM:Q68.8" MONDO:0003034 "A malignant vascular neoplasm arising from the mediastinum." "UMLS:C1334649 DOID:4525 NCIT:C6613" UBERON:0001962 -MONDO:0018738 "A benign neoplasm that involves the metanephros." "UMLS:CN242075 ICD10:D30.0 Orphanet:464359" +MONDO:0018738 "A benign neoplasm that involves the metanephros." "UMLS:CN242075 ICD10CM:D30.0 Orphanet:464359" NCBITaxon:4857 "PMID:17572334 PMID:17051209 GC_ID:1" GO:0097734 "The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane." CL:0011027 "Any fibroblast that is part of skeletal muscle tissue." -MONDO:0003956 "SCTID:82304009 ICD10:M48.2 ICD10:M48.20 ICD9:721.5 UMLS:C0158248 DOID:6643" +MONDO:0003956 "SCTID:82304009 ICD9:721.5 UMLS:C0158248 DOID:6643" MONDO:0019778 "Smith-Fineman-Myers syndrome (SFMS) is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "OMIM:309580 UMLS:C0796159 MESH:C537445 SCTID:719212004 GARD:0003521 Orphanet:93974" MONDO:0014830 "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene." "Orphanet:466806 OMIM:616913 DOID:0111055 UMLS:C4310797" -MONDO:0001559 "ICD9:618.05 ICD10:N81.81 DOID:12637" +MONDO:0001559 "ICD9:618.05 ICD10CM:N81.81 DOID:12637" CHR:9606-chr2p16.1-p15 MONDO:0018913 "Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body." "MESH:D008287 EFO:1001807 GARD:0006960 Orphanet:556 NCIT:C84833 SCTID:716766007" http://identifiers.org/hgnc/869 NCBITaxon:263 "GC_ID:11" http://identifiers.org/hgnc/868 UBERON:0017649 -MONDO:0019811 "Orphanet:95457 ICD10:Q22.4" +MONDO:0019811 "Orphanet:95457 ICD10CM:Q22.4" UBERON:0002060 MAXO:0000001 "A clinically prescribed procedure, therapy, intervention, or recommendation." NCBITaxon:34607 "GC_ID:1" @@ -30852,58 +30833,58 @@ UBERON:0001961 MONDO:0015576 "OBSOLETE. Rare viral disease." "UMLS:CN199939 Orphanet:163585" CL:0000003 "A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment)." "CARO:0000013" GO:0030887 "Any process that stimulates, induces or increases the rate of myeloid dendritic cell activation." -MONDO:0018613 "ICD10:E85.9 Orphanet:442582" +MONDO:0018613 "ICD10CM:E85.9 Orphanet:442582" UBERON:0003261 MONDO:0019045 "OBSOLETE. A rare form of sleep disorder." "Orphanet:68354" MONDO:0004433 "A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern." "DOID:8013 UMLS:C1335322 NCIT:C6983" NCBITaxon:4859 "GC_ID:1" http://identifiers.org/hgnc/1352 http://identifiers.org/hgnc/601 -MONDO:0004055 "DOID:6970 SCTID:302900006 ICD9:375.3 UMLS:C0339129 ICD10:H04.3" -MONDO:0017415 "OMIM:312150 OMIM:178110 DOID:0080110 OMIM:265000 SCTID:205819008 ICD10:Q79.8 OMIM:253290 ICD9:755.8 MESH:C537377 Orphanet:294060" +MONDO:0004055 "DOID:6970 SCTID:302900006 ICD9:375.3 UMLS:C0339129" +MONDO:0017415 "OMIM:312150 OMIM:178110 DOID:0080110 ICD10CM:Q79.8 OMIM:265000 SCTID:205819008 OMIM:253290 ICD9:755.8 MESH:C537377 Orphanet:294060" MONDO:0021092 "A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma." "NCIT:C3032 UMLS:C0015558 ICD9:239.5 SCTID:126916003" -MONDO:0023563 "GARD:0003134 MESH:C537025 UMLS:C2931399" +MONDO:0023563 "GARD:0003134 MESH:C537025 OMIM:203285 UMLS:C2931399" MONDO:0021680 "Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G." "UMLS:C0038395 EFO:1001476 SCTID:85769006 ICD9:041.00 NCIT:C87062 ICD9:041.09 MESH:D013290" MONDO:0100103 "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene." "OMIM:618389 DOID:0111376" -MONDO:0020322 "An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)" "DOID:9953 ICD10:C95.0 EFO:1000828 ICD9:207.80 MedDRA:10067399 OMIM:601626 MESH:D015456 Orphanet:98837 SCTID:278453007 UMLS:C0023464 ICDO:9805/3 NCIT:C4673" +MONDO:0020322 "An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)" "DOID:9953 EFO:1000828 ICD9:207.80 MedDRA:10067399 OMIM:601626 MESH:D015456 Orphanet:98837 SCTID:278453007 UMLS:C0023464 ICDO:9805/3 ICD10CM:C95.0 NCIT:C4673" UBERON:0002063 -MONDO:0016826 "An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ)." "OMIMPS:277400 OMIM:277410 GARD:0003579 ICD10:E71.1 Orphanet:26 MESH:C537359 OMIM:277380 OMIM:277400 OMIM:614857" -MONDO:0019991 "Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases." "SCTID:73305009 ICD9:583.9 GARD:0012048 NCIT:C96182 ICD10:N03.6 Orphanet:97567" +MONDO:0016826 "An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ)." "OMIMPS:277400 OMIM:277410 GARD:0003579 Orphanet:26 MESH:C537359 OMIM:277380 ICD10CM:E71.1 OMIM:277400 OMIM:614857" +MONDO:0019991 "Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases." "SCTID:73305009 ICD9:583.9 GARD:0012048 NCIT:C96182 ICD10CM:N03.6 Orphanet:97567" UBERON:0003260 http://identifiers.org/hgnc/30696 NCBITaxon:6157 "GC_ID:1" MONDO:0011579 "Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease." "OMIM:605670 DOID:0060869 Orphanet:67042 SCTID:719431007 GARD:0004357 UMLS:C1854065 MESH:C565309" MONDO:0012538 "Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene." "MESH:C565198 UMLS:C1853154 Orphanet:607 OMIM:610687 DOID:0110934" -MONDO:0004054 "ICD10:H04.33 SCTID:84399007 ICD9:375.31 UMLS:C0339130 DOID:6969" -MONDO:0016239 "Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular." "Orphanet:213 MedDRA:10011777 NCIT:C2976 UMLS:CN035091 MESH:D003554 UMLS:C0010690 DOID:1064 OMIM:219800 OMIM:219750 OMIM:219900 SCTID:190681003 ICD10:E72.04 GARD:0006236 ICD10:E72.0" +MONDO:0004054 "SCTID:84399007 ICD9:375.31 UMLS:C0339130 DOID:6969" +MONDO:0016239 "Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular." "ICD10CM:E72.04 Orphanet:213 MedDRA:10011777 NCIT:C2976 UMLS:CN035091 MESH:D003554 UMLS:C0010690 DOID:1064 OMIM:219800 OMIM:219750 OMIM:219900 SCTID:190681003 GARD:0006236 ICD10CM:E72.0" MONDO:0044785 "A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion." "ONCOTREE:DESM NCIT:C37257" http://identifiers.org/hgnc/866 http://identifiers.org/hgnc/600 -MONDO:0019631 "A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)" "OMIM:221900 MESH:D054514 OMIM:611308 OMIMPS:221900 SCTID:314270008 ICD10:Q14.0 DOID:0060282 Orphanet:91495" +MONDO:0019631 "A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)" "OMIM:221900 MESH:D054514 OMIM:611308 ICD10CM:Q14.0 OMIMPS:221900 SCTID:314270008 DOID:0060282 Orphanet:91495" MONDO:0004316 "A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis." "NCIT:C4460 SCTID:254654004 DOID:7643 UMLS:C0345979" MONDO:0015019 "OMIM:617321 UMLS:C4310620 SCTID:768667002" MONDO:0002192 "An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis." "SCTID:402841001 UMLS:C1274281 NCIT:C8596 DOID:2066" NCBITaxon:34609 "GC_ID:1" -MONDO:0019813 "MedDRA:10010656 ICD10:Q22.4 SCTID:36233006 Orphanet:95459" +MONDO:0019813 "ICD10CM:Q22.4 MedDRA:10010656 SCTID:36233006 Orphanet:95459" UBERON:0002062 -MONDO:0007745 "An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice." "EFO:0005556 NCIT:C84729 OMIM:143500 GARD:0006507 Orphanet:357 SCTID:27503000 DOID:2739 ICD10:E80.4 MESH:D005878" +MONDO:0007745 "An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice." "EFO:0005556 NCIT:C84729 OMIM:143500 GARD:0006507 Orphanet:357 SCTID:27503000 DOID:2739 ICD10CM:E80.4 MESH:D005878" UBERON:0001963 HP:0001879 "An abnormal count or structure of eosinophils." "UMLS:C4025738" MONDO:0024535 "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene." "Orphanet:85191 OMIM:182250 UMLS:C4225427" ENVO:01001835 "A biome which is subject to alpine altitudinal conditions." http://identifiers.org/hgnc/8654 -MONDO:0010672 "A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms." "MESH:C537466 ICD10:Q11.2 SCTID:721879006 GARD:0003659 OMIMPS:309801 OMIM:300887 Orphanet:2556 OMIM:309801 OMIM:300952" +MONDO:0010672 "A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms." "SCTID:721879006 OMIM:300887 GARD:0003659 MESH:C537466 OMIM:309801 OMIM:300952 Orphanet:2556 ICD10CM:Q11.2 OMIMPS:309801" MONDO:0021879 "A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei." "GARD:0009477 UMLS:C1335983 NCIT:C7208 MESH:C538255" MONDO:0014734 "DOID:0111315 OMIM:616685" GO:0033576 "The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in the cytosol." -MONDO:0008223 "Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels." "UMLS:C0238357 GARD:0006729 DOID:14452 ICD10:G72.3 NCIT:C84775 SCTID:82732003 OMIM:613345 Orphanet:681 OMIM:170400 MESH:D020514 UMLS:C0238358" +MONDO:0008223 "Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels." "UMLS:C0238357 MESH:D020514 ICD10CM:G72.3 OMIM:613345 Orphanet:681 GARD:0006729 UMLS:C0238358 OMIM:170400 SCTID:82732003 NCIT:C84775 DOID:14452" MONDO:0013536 "MESH:C564200 UMLS:C1841651 Orphanet:562509 OMIM:614034" http://identifiers.org/hgnc/6259 -MONDO:0002042 "An ectropion with a mechanical etiology." "SCTID:45020000 ICD9:374.12 UMLS:C0155194 DOID:1569 ICD10:H02.121-129" +MONDO:0002042 "An ectropion with a mechanical etiology." "SCTID:45020000 ICD9:374.12 UMLS:C0155194 DOID:1569" GO:0009166 "The chemical reactions and pathways resulting in the breakdown of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates)." MONDO:0021722 "Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months." "ICD9:625.70 SCTID:238968009 MESH:D056650" ENVO:09000016 "The concentration of a nitrogen atom when measured in environmental material." -MONDO:0005991 "An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse." "MedDRA:10044582 ICD10:A79.0 UMLS:C0040830 EFO:0007519 ICD9:083.1 Orphanet:64694 DOID:11101 SCTID:82214002 MESH:D014205" +MONDO:0005991 "An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse." "ICD10CM:A79.0 MedDRA:10044582 UMLS:C0040830 EFO:0007519 ICD9:083.1 Orphanet:64694 DOID:11101 SCTID:82214002 MESH:D014205" http://identifiers.org/hgnc/7456 CHEBI:16294 "A barbiturate, the structure of which is that of perhydropyrimidine substituted at C-2, -4 and -6 by oxo groups. Barbituric acid is the parent compound of barbiturate drugs, although it is not itself pharmacologically active." MONDO:0003691 "A malignant mesenchymoma occurring in children." "DOID:5893 NCIT:C8097 UMLS:C0279991" @@ -30914,15 +30895,15 @@ MONDO:0004429 "A meningioma (disease) that involves the zone of skin." "DOID:800 PO:0009086 "A portion of plant tissue (PO:0009007) that is the innermost differentiated layer of a pericarp (PO:0009084)." "PO_GIT:149 PO_GIT:511" HP:0000130 "An abnormality of the uterus." "SNOMEDCT_US:37849005 MSH:C562565 UMLS:C0266383" GO:0071944 "The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures." -MONDO:0004767 "An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle." "SCTID:27001009 ICD10:N49.0 NCIT:C12787 ICD9:608.0 DOID:9365 UMLS:C0042588" +MONDO:0004767 "An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle." "SCTID:27001009 NCIT:C12787 ICD9:608.0 DOID:9365 UMLS:C0042588" GO:0010828 "Any process that increases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." MONDO:0007659 "MESH:C564237 UMLS:C1842035 OMIM:137560" http://identifiers.org/hgnc/16255 HsapDv:0000128 "Adult stage that refers to an adult who is over 34 and under 35." -MONDO:0010361 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene." "OMIM:300558 UMLS:C0796237 Orphanet:777" +MONDO:0010361 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene." "UMLS:C0796237 OMIM:300558 Orphanet:777" NCBITaxon:2560080 "GC_ID:1" GO:0046903 "The controlled release of a substance by a cell or a tissue." -MONDO:0008003 "Autosomal dominant form of progressive external ophthalmoplegia." "MESH:C563575 OMIM:613077 UMLS:CN202062 OMIM:609286 OMIM:157640 OMIM:609283 ICD10:H49.4 Orphanet:254892 OMIM:610131" +MONDO:0008003 "Autosomal dominant form of progressive external ophthalmoplegia." "MESH:C563575 OMIM:613077 UMLS:CN202062 ICD10CM:H49.4 OMIM:609286 OMIM:157640 OMIM:609283 Orphanet:254892 OMIM:610131" UBERON:0016447 http://identifiers.org/hgnc/6257 CL:2000078 "Any pericyte cell that is part of a placenta." @@ -30931,14 +30912,14 @@ MONDO:0013538 "MESH:C566304 UMLS:C3279661 OMIM:614036" CL:0000666 CHEBI:131604 "Any bacterial metabolite produced during a metabolic reaction in Mycoplasma genitalium." MONDO:0015186 "OBSOLETE. Rare intestinal neoplasm." "Orphanet:104011" -MONDO:0005820 "A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss." "UMLS:C0023092 EFO:0007338 ICD9:078.89 Orphanet:99824 SCTID:19065005 DOID:9537 NCIT:C128418 MESH:D007835 ICD10:A96.2 MedDRA:10023927" +MONDO:0005820 "A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss." "UMLS:C0023092 EFO:0007338 ICD9:078.89 Orphanet:99824 SCTID:19065005 DOID:9537 NCIT:C128418 MESH:D007835 ICD10CM:A96.2 MedDRA:10023927" UBERON:0015249 UBERON:0017648 UBERON:0001960 NCBITaxon:58839 "GC_ID:1" MONDO:0014982 "Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene." "OMIM:617238 UMLS:C4310655" MONDO:0004552 "A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low." "UMLS:C1333370 DOID:8409 NCIT:C36094" -MONDO:0014388 "Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family." "ICD10:Q36.1 OMIM:615892 Orphanet:401942" +MONDO:0014388 "Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family." "OMIM:615892 ICD10CM:Q36.1 Orphanet:401942" http://identifiers.org/hgnc/8653 http://identifiers.org/hgnc/6256 MONDO:0002224 "A cystic cancerous tumor arising from the ovary." "DOID:2145 NCIT:C3843 UMLS:C0235770" @@ -30946,81 +30927,81 @@ http://identifiers.org/hgnc/18654 http://identifiers.org/hgnc/16257 http://identifiers.org/hgnc/7455 HP:0001072 "Laminar thickening of skin." "SNOMEDCT_US:17417006 UMLS:C0334008 MEDDRA:10040936 UMLS:C4020878 SNOMEDCT_US:69943009" -MONDO:0001857 "A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly." "ICD9:023.3 ICD10:A23.3 DOID:14019 UMLS:C0494040 SCTID:428174001" -MONDO:0014191 "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene." "DOID:0060679 Orphanet:3286 UMLS:C3809536 ICD10:I47.2 OMIM:615441" +MONDO:0001857 "A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly." "ICD9:023.3 DOID:14019 UMLS:C0494040 SCTID:428174001" +MONDO:0014191 "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene." "DOID:0060679 Orphanet:3286 UMLS:C3809536 OMIM:615441" CHEBI:48560 "A drug used for its effects on dopamine receptors, on the life cycle of dopamine, or on the survival of dopaminergic neurons." CHEBI:35274 "A derivative of ammonium, NH4(+), in which one (or more) of the hydrogens bonded to the nitrogen have been replaced with univalent organyl groups. The substituting carbon of the organyl group must not itself be directly attached to a heteroatom (thereby excluding protonated amides, hemiaminals, etc)." MONDO:0043310 "Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)" "SCTID:88032003 GARD:0009660 NCIT:C84550 MESH:D020757" CL:0002541 "A mesenchymal stem cell of the chorionic membrane." http://identifiers.org/hgnc/6255 -MONDO:0015600 "X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears)." "UMLS:CN226710 Orphanet:163971 ICD10:Q87.8 SCTID:719013004" +MONDO:0015600 "X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears)." "UMLS:CN226710 Orphanet:163971 SCTID:719013004 ICD10CM:Q87.8" HsapDv:0000117 "Young adult stage that refers to an adult who is over 23 and under 24." MONDO:0002281 "Anemia that is characterized by increased red blood cell volume." "DOID:2361 HP:0001972 NCIT:C34381 SCTID:83414005 UMLS:C0002886 MESH:D000748" MONDO:0002368 "A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present." "ICDO:8460/3 NCIT:C8377 UMLS:C0334359 DOID:2632 SCTID:716649003" -MONDO:0012609 "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22." "MESH:C567022 DOID:0110045 Orphanet:1020 OMIM:611073 UMLS:C1970209 ICD10:G30" +MONDO:0012609 "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22." "MESH:C567022 ICD10CM:G30 DOID:0110045 Orphanet:1020 OMIM:611073 UMLS:C1970209" MONDO:0007654 "MESH:C537685 GARD:0008429 OMIM:137370 UMLS:C1842052" -MONDO:0014012 "Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment." "DOID:0110170 OMIM:615025 UMLS:C3554366 Orphanet:329258 GARD:0012446 ICD10:G60.0" -MONDO:0007646 "Autosomal recessive axonal neuropathy with neuromyotonia is a rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment." "SCTID:711406009 Orphanet:324442 GARD:0012353 UMLS:CN074193 OMIM:137200 ICD10:G60.0 DOID:0050526" +MONDO:0014012 "Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment." "ICD10CM:G60.0 DOID:0110170 OMIM:615025 UMLS:C3554366 Orphanet:329258 GARD:0012446" +MONDO:0007646 "Autosomal recessive axonal neuropathy with neuromyotonia is a rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment." "SCTID:711406009 Orphanet:324442 GARD:0012353 ICD10CM:G60.0 UMLS:CN074193 OMIM:137200 DOID:0050526" GO:0042487 "Any process that modulates the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates." GO:0071103 "A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule." -MONDO:0021162 "ICD10:E67.1 UMLS:C0154271 ICD9:278.3 NCIT:C26963 DOID:9969" +MONDO:0021162 "UMLS:C0154271 ICD9:278.3 NCIT:C26963 DOID:9969" MONDO:0003408 "A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component." "DOID:5351 UMLS:C1518727 NCIT:C39986" MONDO:0100053 "An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting." "NCIT:C107101" MONDO:0004531 "Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present." "UMLS:C1335931 DOID:8310 SCTID:105261000119101 NCIT:C5205" -MONDO:0008396 "Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait." "OMIM:180900 ICD10:Q87.8 GARD:0000212 MESH:C537732 ICD9:759.89 UMLS:C0796140 SCTID:699754008 Orphanet:2709" +MONDO:0008396 "Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait." "OMIM:180900 GARD:0000212 MESH:C537732 ICD9:759.89 UMLS:C0796140 SCTID:699754008 Orphanet:2709 ICD10CM:Q87.8" GO:0023057 "Any process that stops, prevents, or reduces the frequency, rate or extent of a signaling process." MONDO:0008859 "UMLS:C1859519 MESH:C565905 OMIM:210050 GARD:0008552" UBERON:0016446 CL:1001606 "Keratinocyte from foreskin." "CALOHA:TS-0385" GO:0000902 "The developmental process in which the size or shape of a cell is generated and organized." -MONDO:0007655 "ICD10:K14.5 OMIM:137400 ICD9:750.13 GARD:0006493 MESH:D014063 SCTID:52368004 UMLS:C0040412 DOID:11514 ICD9:529.5 UMLS:C1842051" -MONDO:0011417 "Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." "DOID:0111030 OMIM:604250 SCTID:719974003 UMLS:C1858664 GARD:0010093 ICD10:E83.1 MESH:C537248 Orphanet:225123" +MONDO:0007655 "OMIM:137400 ICD9:750.13 ICD10CM:K14.5 GARD:0006493 MESH:D014063 SCTID:52368004 UMLS:C0040412 DOID:11514 ICD9:529.5 UMLS:C1842051" +MONDO:0011417 "Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." "DOID:0111030 OMIM:604250 SCTID:719974003 UMLS:C1858664 GARD:0010093 MESH:C537248 Orphanet:225123 ICD10CM:E83.1" GO:0072521 "The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof." CHR:9606-chr11p15 MONDO:0006035 "A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." "DOID:6595 UMLS:C1333791 EFO:1000030 NCIT:C5473 ONCOTREE:TSTAD" -MONDO:0012307 "Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." "OMIM:609579 MESH:C566511 ICD10:Q87.0 Orphanet:168624 UMLS:C1865070" -MONDO:0008788 "IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." "SCTID:722005000 GARD:0010957 ICD10:D50.8 Orphanet:209981 MESH:C562385 OMIM:206200" +MONDO:0012307 "Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." "OMIM:609579 MESH:C566511 Orphanet:168624 UMLS:C1865070 ICD10CM:Q87.0" +MONDO:0008788 "IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." "SCTID:722005000 GARD:0010957 Orphanet:209981 MESH:C562385 ICD10CM:D50.8 OMIM:206200" MONDO:0100004 "A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS)." "GARD:0012981" MONDO:0021234 "A neoplasm (disease) that involves the spinal cord." "NCIT:C3381 UMLS:C0037930" CHEBI:76759 "Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*)." GO:0010952 "Any process that increases the frequency, rate or extent of peptidase activity, the hydrolysis of peptide bonds within proteins." MONDO:0006457 CHEBI:59163 "A substance used as an indicator of a biological state." -MONDO:0012744 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene." "Orphanet:54260 DOID:0110457 ICD10:I42.0 MESH:C567507 OMIM:611878" +MONDO:0012744 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene." "ICD10CM:I42.0 Orphanet:54260 DOID:0110457 MESH:C567507 OMIM:611878" GO:0030217 "The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex." MONDO:0021345 "A carcinoma that involves the pharynx." "NCIT:C9466 SCTID:449254004" -MONDO:0019819 "ICD9:746.89 Orphanet:95474 SCTID:253402005 ICD10:Q23.8" -MONDO:0007793 "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." "UMLS:C0410529 NCIT:C118697 MedDRA:10020967 ICD10:Q77.4 OMIM:146000 Orphanet:429 DOID:0080041 SCTID:205468002 ICD9:756.9 MESH:C562937 GARD:0006724" +MONDO:0019819 "ICD9:746.89 Orphanet:95474 ICD10CM:Q23.8 SCTID:253402005" +MONDO:0007793 "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints." "UMLS:C0410529 ICD10CM:Q77.4 NCIT:C118697 MedDRA:10020967 OMIM:146000 Orphanet:429 DOID:0080041 SCTID:205468002 ICD9:756.9 MESH:C562937 GARD:0006724" MONDO:0003300 "A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "NCIT:C5514 UMLS:C1332327 DOID:5146" HP:0003330 "Any anomaly in the composite material or the layered arrangement of the bony skeleton." "UMLS:C4025630" -MONDO:0007523 "Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." "OMIM:130020 Orphanet:285 GARD:0002081 MESH:C536196 UMLS:C0268337 SCTID:30652003 DOID:14757 NCIT:C125698 ICD10:Q79.6" +MONDO:0007523 "Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." "OMIM:130020 ICD10CM:Q79.6 Orphanet:285 GARD:0002081 MESH:C536196 UMLS:C0268337 SCTID:30652003 DOID:14757 NCIT:C125698" MONDO:0001652 "A melanoma (disease) that involves the scrotum." "UMLS:C1331544 NCIT:C7361 DOID:13160" CHEBI:16199 "A carbonyl group with two C-bound amine groups. The commercially available fertilizer has an analysis of 46-0-0 (N-P2O5-K2O)." MONDO:0009815 "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene." "Orphanet:667 MESH:C564915 GARD:0002579 DOID:0110942 OMIM:259700" -MONDO:0008763 "A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction." "ICD10:Q87.8 MESH:D056769 SCTID:63702009 ICD9:759.89 OMIM:203800 GARD:0005787 MedDRA:10068783 DOID:0050473 NCIT:C84549 Orphanet:64 UMLS:C0268425" +MONDO:0008763 "A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction." "MESH:D056769 SCTID:63702009 ICD9:759.89 OMIM:203800 GARD:0005787 MedDRA:10068783 DOID:0050473 NCIT:C84549 ICD10CM:Q87.8 Orphanet:64 UMLS:C0268425" GO:0001227 "A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II." GO:0043539 "Binds to and increases the activity of a protein serine/threonine kinase." http://identifiers.org/hgnc/7450 -MONDO:0009529 "Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." "Orphanet:2394 UMLS:CN043137 SCTID:29914000 ICD10:E74.4 Orphanet:765 OMIM:246900 UMLS:C0268193 GARD:0003263" +MONDO:0009529 "Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." "Orphanet:2394 UMLS:CN043137 SCTID:29914000 Orphanet:765 ICD10CM:E74.4 OMIM:246900 UMLS:C0268193 GARD:0003263" http://identifiers.org/hgnc/25740 -MONDO:0010908 "Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." "UMLS:C0406468 MESH:D058247 ICD10:L65.1 ICD9:704.8 DOID:0111702 SCTID:238735005 GARD:0003287 Orphanet:168 OMIM:600628" +MONDO:0010908 "Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." "UMLS:C0406468 MESH:D058247 ICD10CM:L65.1 ICD9:704.8 DOID:0111702 SCTID:238735005 GARD:0003287 Orphanet:168 OMIM:600628" MONDO:0011701 "An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12." "MESH:C564680 UMLS:C1847691 DOID:0110903 OMIM:606675" -MONDO:0010045 "OBSOLETE. This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely." "GARD:0002343 Orphanet:2823 UMLS:C0795942 OMIM:270710 MESH:C537938 ICD10:G82.1" -MONDO:0003606 "A malignant neoplasm involving the adrenal medulla" "ICD10:C74.1 UMLS:C0344456 UMLS:C0596046 NCIT:C4856 GARD:0005755 SCTID:371965009 DOID:5719 NCIT:C4396" -MONDO:8000010 "A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease." "NCIT:C61283 MESH:D016736 ICD10:D68.61 OMIM:107320 Orphanet:80 ICD9:279.49 DOID:2988 SCTID:26843008 GARD:0005824 UMLS:C0085278" -MONDO:0016674 "46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." "OMIM:154230 OMIM:616425 OMIM:616067 OMIM:300018 ICD10:Q56.1 OMIM:612965 OMIM:615542 OMIM:613762 SCTID:725045004 Orphanet:251510 UMLS:C4510744" -MONDO:0011253 "Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." "OMIM:602558 ICD10:Q87.0 UMLS:C1865184 MESH:C566522 GARD:0001583 SCTID:725098001 Orphanet:1524" +MONDO:0010045 "OBSOLETE. This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely." "GARD:0002343 Orphanet:2823 OMIM:270710 UMLS:C0795942 MESH:C537938" +MONDO:0003606 "A malignant neoplasm involving the adrenal medulla" "UMLS:C0344456 UMLS:C0596046 NCIT:C4856 GARD:0005755 SCTID:371965009 DOID:5719 NCIT:C4396" +MONDO:8000010 "A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease." "NCIT:C61283 MESH:D016736 OMIM:107320 Orphanet:80 ICD9:279.49 DOID:2988 ICD10CM:D68.61 SCTID:26843008 GARD:0005824 UMLS:C0085278" +MONDO:0016674 "46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." "ICD10CM:Q56.1 OMIM:154230 OMIM:616425 OMIM:616067 OMIM:300018 OMIM:612965 OMIM:615542 OMIM:613762 SCTID:725045004 Orphanet:251510 UMLS:C4510744" +MONDO:0011253 "Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly." "OMIM:602558 UMLS:C1865184 ICD10CM:Q87.0 MESH:C566522 GARD:0001583 SCTID:725098001 Orphanet:1524" CHR:9606-chr11p13 -MONDO:0013905 "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain." "UMLS:C3553816 ICD10:G11.1 DOID:0080062 OMIM:614831 Orphanet:324262 Orphanet:363429" +MONDO:0013905 "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain." "UMLS:C3553816 DOID:0080062 OMIM:614831 ICD10CM:G11.1 Orphanet:324262 Orphanet:363429" MONDO:0007657 "UMLS:C1842039 OMIM:137500" http://identifiers.org/hgnc/18658 -MONDO:0019380 "An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders." "UMLS:C0153064 ICD9:062.1 SCTID:47523006 DOID:10843 MESH:D020241 GARD:0007888 MedDRA:10014614 NCIT:C85227 EFO:0007546 Orphanet:83593 ICD10:A83.1" +MONDO:0019380 "An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders." "UMLS:C0153064 ICD9:062.1 SCTID:47523006 DOID:10843 MESH:D020241 ICD10CM:A83.1 GARD:0007888 MedDRA:10014614 NCIT:C85227 EFO:0007546 Orphanet:83593" MONDO:0008143 "Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene." "ICD9:715.90 ICD9:715.98 OMIM:165720" GO:1900121 "Any process that stops, prevents or reduces the frequency, rate or extent of a protein or other molecule binding to a receptor." -MONDO:0008856 "GARD:0009185 UMLS:C4011949 OMIM:209950 Orphanet:319569 Orphanet:99898 UMLS:C3266863" +MONDO:0008856 "GARD:0009185 UMLS:C4011949 Orphanet:319569 Orphanet:99898 OMIM:209950 UMLS:C3266863" GO:0005589 "A collagen heterotrimer containing type VI alpha chains in alpha1(VI)alpha2(VI)alpha3(VI) trimers; type VI collagen triple helices associate to form beaded fibrils." MONDO:0025382 "Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses." "MESH:D001357" -MONDO:0007147 "Cessation of air flow during sleep due to upper airway obstruction." "ICD9:327.23 NCIT:C27168 NCIT:C116337 ICD10:G47.33 NCIT:C26884 SCTID:230493001 ICD9:780.57 UMLS:C0520679 OMIM:107650 DOID:0050848 SCTID:73430006 ICD10:G47.30 HP:0002870 MESH:D020181 MESH:D012891 EFO:0003918 ICD10:G47.3 SCTID:78275009" +MONDO:0007147 "Cessation of air flow during sleep due to upper airway obstruction." "ICD9:327.23 NCIT:C27168 NCIT:C116337 NCIT:C26884 SCTID:230493001 ICD9:780.57 UMLS:C0520679 OMIM:107650 ICD10CM:G47.33 DOID:0050848 SCTID:73430006 ICD10CM:G47.3 HP:0002870 MESH:D020181 MESH:D012891 EFO:0003918 SCTID:78275009" MONDO:0025481 "An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc)." "UMLS:C0043528 MESH:D015047 Wikipedia:Zoonosis NCIT:C35803" http://identifiers.org/hgnc/11359 MONDO:0007014 "Infections with bacteria of the genus vibrio." "EFO:1001235 UMLS:C0042636 MESH:D014735" @@ -31028,39 +31009,39 @@ MONDO:0000350 http://identifiers.org/hgnc/9848 ENVO:01000254 "A system which has the disposition to environ one or more material entities." MONDO:0003289 "A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "UMLS:C1333266 NCIT:C6512 DOID:5128" -MONDO:0019087 "A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." "UMLS:C0740277 MedDRA:10004593 Orphanet:70567 ICD10:C22.1 ONCOTREE:CHOL SCTID:312104005 ICD10:C24.0 ICD10:C24.9 MedDRA:10008593 EFO:0005221 NCIT:C4436 OMIM:615619 DOID:4947 MESH:D018281 ICDO:8160/3 GARD:0009304 UMLS:C0206698 ICD10:C24.8" +MONDO:0019087 "A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor." "UMLS:C0740277 MedDRA:10004593 Orphanet:70567 ONCOTREE:CHOL SCTID:312104005 MedDRA:10008593 EFO:0005221 NCIT:C4436 OMIM:615619 ICD10CM:C24.0 ICD10CM:C24.9 DOID:4947 MESH:D018281 ICDO:8160/3 GARD:0009304 UMLS:C0206698 ICD10CM:C24.8" MONDO:0009470 "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene." "Orphanet:2995 OMIM:243310 UMLS:C1853623 UMLS:C1837819" -MONDO:0009435 "Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." "MESH:C563067 SCTID:716096005 OMIM:241760 Orphanet:2261 ICD10:Q87.8 GARD:0002928" +MONDO:0009435 "Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." "MESH:C563067 SCTID:716096005 OMIM:241760 ICD10CM:Q87.8 Orphanet:2261 GARD:0002928" MONDO:0021117 "A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma." "NCIT:C3200 ONCOTREE:LUNG MESH:D008175" -MONDO:0031332 "A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia" "OMIM:273800 DOID:2219 ICD10:D69.1 SCTID:32942005 MESH:D013915 Orphanet:849 GARD:0002478 NCIT:C61249" +MONDO:0031332 "A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia" "ICD10CM:D69.1 OMIM:273800 DOID:2219 SCTID:32942005 MESH:D013915 Orphanet:849 GARD:0002478 NCIT:C61249" CHEBI:37577 "A molecular entity consisting of two or more chemical elements." http://identifiers.org/hgnc/14951 ENVO:01001501 "An electromagnetic radiation process during which electromagnetic waves or their quanta are emitted from a manufactured product." CHEBI:48154 UBERON:5102544 -MONDO:0001326 "Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification." "UMLS:C0011407 ICD9:522.1 ICD10:K04.1 MESH:D003790 SCTID:42711005 DOID:11623" -MONDO:0017683 "OMIM:277410 ICD10:E72.1 UMLS:CN203574 Orphanet:308380" +MONDO:0001326 "Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification." "ICD10CM:K04.1 UMLS:C0011407 ICD9:522.1 MESH:D003790 SCTID:42711005 DOID:11623" +MONDO:0017683 "OMIM:277410 ICD10CM:E72.1 UMLS:CN203574 Orphanet:308380" NCIT:C36823 MONDO:0015022 "OMIM:617333 UMLS:C4310617 EFO:0009070" UBERON:0017650 -MONDO:0001658 "Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy." "ICD10:E04.9 NCIT:C35271 DOID:13195 UMLS:C0221777 ICD10:E04.0" +MONDO:0001658 "Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy." "NCIT:C35271 DOID:13195 UMLS:C0221777" NCBITaxon:374468 "PMID:14654427 GC_ID:1" MONDO:0004236 "A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures." "UMLS:C1333320 DOID:7479 NCIT:C27407" -MONDO:0009794 "Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." "GARD:0000816 SCTID:239031000 Orphanet:2753 OMIM:258860 DOID:0060374 MESH:C537133 UMLS:C0406727 ICD10:Q87.0" +MONDO:0009794 "Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet." "GARD:0000816 ICD10CM:Q87.0 SCTID:239031000 Orphanet:2753 OMIM:258860 DOID:0060374 MESH:C537133 UMLS:C0406727" NCBITaxon:2560076 "GC_ID:1" -MONDO:0009839 "PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." "OMIM:260540 ICD10:G23.1 Orphanet:99750 Orphanet:240085 Orphanet:683 GARD:0004507 UMLS:CN201680 MESH:C537240" -MONDO:0007436 "Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth." "ICD10:K00.5 Orphanet:99789 SCTID:109493006 Orphanet:314721 GARD:0001807 MESH:C538215 MESH:C531665 ICD9:520.5 UMLS:C0399379 OMIM:125400" -MONDO:0008145 "A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones." "SCTID:268274005 ICD10:Q78.4 UMLS:C0014084 SCTID:46041001 MedDRA:10014642 NCIT:C3213 GARD:0007251 UMLS:CN203308 OMIM:166000 Orphanet:296 UMLS:C0024454 UMLS:C0206641 NCIT:C3008 DOID:4624" +MONDO:0009839 "PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." "OMIM:260540 Orphanet:99750 ICD10CM:G23.1 Orphanet:240085 Orphanet:683 GARD:0004507 UMLS:CN201680 MESH:C537240" +MONDO:0007436 "Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth." "Orphanet:99789 SCTID:109493006 Orphanet:314721 GARD:0001807 MESH:C538215 MESH:C531665 ICD9:520.5 UMLS:C0399379 OMIM:125400 ICD10CM:K00.5" +MONDO:0008145 "A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones." "SCTID:268274005 UMLS:C0014084 SCTID:46041001 MedDRA:10014642 NCIT:C3213 GARD:0007251 UMLS:CN203308 OMIM:166000 Orphanet:296 UMLS:C0024454 UMLS:C0206641 NCIT:C3008 DOID:4624" MONDO:0012331 "OMIM:609670" UBERON:0006858 MONDO:0015287 MONDO:0043358 "A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation." "SCTID:426768001 UMLS:C0919746 GARD:0011909 NCIT:C63324" MONDO:0012597 "MESH:C567031 OMIM:610997 UMLS:C1970250" ENVO:01000452 "A disposition which is realised by an environmental system or system parts thereof." -MONDO:0013400 "A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels." "Orphanet:168558 OMIM:613743 MESH:C566130 UMLS:C3151055 ICD10:Q56.1 DOID:0050546 NCIT:C131422" +MONDO:0013400 "A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels." "Orphanet:168558 OMIM:613743 MESH:C566130 UMLS:C3151055 ICD10CM:Q56.1 DOID:0050546 NCIT:C131422" MONDO:0017684 "SCTID:237940008 ICD9:270.8 UMLS:C0342707 Orphanet:308407" MONDO:0015021 "OMIM:617330 UMLS:C4310618" -MONDO:0011890 "A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis." "ICD10:G60.0 DOID:0110150 GARD:0009189 UMLS:C1843247 OMIM:607678 MESH:C537985 SCTID:719979008 Orphanet:101084" +MONDO:0011890 "A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis." "OMIM:607678 GARD:0009189 UMLS:C1843247 SCTID:719979008 DOID:0110150 Orphanet:101084 ICD10CM:G60.0 MESH:C537985" http://identifiers.org/hgnc/20856 NCBITaxon:33677 "GC_ID:1" GO:0008585 "The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure." @@ -31070,7 +31051,7 @@ MONDO:0011135 "MESH:C566638 OMIM:601708 UMLS:C1866424" GO:0050820 "Any process that activates or increases the frequency, rate or extent of coagulation." MONDO:0004792 "A cancer that involves the UBERON:0016632." "DOID:9459 ICD9:182.1" MONDO:0024508 "UMLS:C0393729 OMIM:613339 Orphanet:166412" -MONDO:0008849 "ICD10:L66.4 OMIM:604093 GARD:0009744 Orphanet:79100 ICD9:701.8 OMIM:209700 SCTID:2736005" +MONDO:0008849 "ICD10CM:L66.4 OMIM:604093 GARD:0009744 Orphanet:79100 ICD9:701.8 OMIM:209700 SCTID:2736005" HP:0002450 "Any structural anomaly that affects the motor neuron." "UMLS:C4025707" GO:0007155 "The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules." MONDO:0012598 "GARD:0002475 Orphanet:2024 MESH:C567028 OMIM:611010" @@ -31086,10 +31067,10 @@ MONDO:0018880 "UMLS:CN205231 Orphanet:52662" MONDO:0013882 "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene." "Orphanet:247262 UMLS:C3553637 OMIM:614749" HsapDv:0000115 "Young adult stage that refers to an adult who is over 21 and under 22." FOODON:03400652 "TYPE 04 - NUTS AND SEEDS\n\nNuts and seeds are derived from a large variety of trees, shrubs and herbaceous plants, mostly cultivated.\n\nThe mature seeds or nuts are used as human food, for the production of beverages or edible vegetable oils and for the production of seed meals and cakes for animal feed."@en "http://www.langual.org/langual_thesaurus.asp?termid=A0652" -MONDO:0015902 "Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential." "Orphanet:181425 ICD10:E78.1" -MONDO:0019925 "Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." "SCTID:766720000 Orphanet:96195 ICD10:Q99.8" +MONDO:0015902 "Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential." "ICD10CM:E78.1 Orphanet:181425" +MONDO:0019925 "Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier." "SCTID:766720000 ICD10CM:Q99.8 Orphanet:96195" MONDO:0044747 "An infection that is caused by Anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia." "SCTID:427481004 NCIT:C128425 ICD9:082.49" -MONDO:0009194 "A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV." "OMIM:226990 GARD:0009534 OMIM:614894 ICD10:B27.0 Orphanet:2566" +MONDO:0009194 "A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV." "OMIM:226990 GARD:0009534 OMIM:614894 ICD10CM:B27.0 Orphanet:2566" MONDO:0014083 "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene." "OMIM:615214 UMLS:C3554689 Orphanet:33110 Orphanet:229717" UBERON:0017651 MONDO:0012599 "OMIM:611014" @@ -31097,7 +31078,7 @@ MONDO:0014730 "OMIM:616681 UMLS:C4225249 DOID:0070289" UBERON:0005658 CL:0002049 "A precursor B cell is CD45R-positive, CD43-positive, CD24-positive, and BP-positive. Intracellularly expression of surrogate light chain, Rag1 and Rag2, TdT, occurs while there is no expression of mu heavy chain." MONDO:0013798 "UMLS:C3281152 OMIM:614541 DOID:0060401" -MONDO:0016482 "Orphanet:231147 UMLS:CN201477 ICD10:Q87.1" +MONDO:0016482 "Orphanet:231147 UMLS:CN201477 ICD10CM:Q87.1" HP:0002019 "Infrequent or difficult evacuation of feces." "MSH:D003248 UMLS:C0009806 SNOMEDCT_US:14760008 UMLS:C0237326 SNOMEDCT_US:225595004" http://identifiers.org/hgnc/8646 MONDO:0013532 "UMLS:C3151465 OMIM:614024" @@ -31108,7 +31089,7 @@ MONDO:0054615 "OMIM:617576 DOID:0070165" http://identifiers.org/hgnc/16252 MONDO:0013651 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene." "UMLS:C3280265 GARD:0012233 OMIM:614249" UBERON:0015251 -MONDO:0001185 "A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition." "SCTID:84209002 ICD9:300.12 DOID:11037 NCIT:C94328 ICD10:F44.0" +MONDO:0001185 "A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition." "SCTID:84209002 ICD10CM:F44.0 ICD9:300.12 DOID:11037 NCIT:C94328" http://identifiers.org/hgnc/7448 HsapDv:0000116 "Young adult stage that refers to an adult who is over 22 and under 23." GO:0030853 "Any process that stops, prevents, or reduces the frequency, rate or extent of granulocyte differentiation." @@ -31119,28 +31100,28 @@ MONDO:0013799 "OMIM:614546" GO:0051928 "Any process that activates or increases the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." MONDO:0006853 "A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases." "DOID:4545 NCIT:C3737 ONCOTREE:MCHS UMLS:C0206637 MedDRA:10027389 ICDO:9240/3 MESH:D018211 EFO:1001041" MONDO:0043294 "A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area." "NCIT:C116780 SCTID:22784002 GARD:0009513" -MONDO:0016481 "UMLS:CN201476 Orphanet:231144 ICD10:Q87.1" +MONDO:0016481 "ICD10CM:Q87.1 UMLS:CN201476 Orphanet:231144" UBERON:0010355 -MONDO:0013310 "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." "Orphanet:95699 SCTID:715733000 OMIM:613571 GARD:0012664 Orphanet:418 ICD10:E25.0" -MONDO:0011929 "A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." "OMIM:607872 SCTID:699306003 GARD:0006082 ICD10:Q93.5 MESH:C535362 UMLS:C1842870 DOID:0060410 Orphanet:1606 ICD9:758.39 NCIT:C74983" +MONDO:0013310 "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." "Orphanet:95699 SCTID:715733000 ICD10CM:E25.0 OMIM:613571 GARD:0012664 Orphanet:418" +MONDO:0011929 "A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." "OMIM:607872 SCTID:699306003 GARD:0006082 MESH:C535362 UMLS:C1842870 DOID:0060410 Orphanet:1606 ICD9:758.39 NCIT:C74983 ICD10CM:Q93.5" GO:0062125 "Any process that modulates the frequency, rate or extent of mitochondrial gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA)." MONDO:0024757 "A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma." "NCIT:C4784 SCTID:721573003 UMLS:C0497243" -MONDO:0009615 "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic." "ICD10:E71.1 MESH:C565386 SCTID:765137006 Orphanet:308425 OMIM:251120 UMLS:C1855100" +MONDO:0009615 "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic." "ICD10CM:E71.1 MESH:C565386 SCTID:765137006 Orphanet:308425 OMIM:251120 UMLS:C1855100" UBERON:0035523 UBERON:2001626 GO:1901861 "Any process that modulates the frequency, rate or extent of muscle tissue development." MONDO:0011139 "MESH:C566632 Orphanet:1926 UMLS:C1866339 OMIM:601759" MONDO:0013534 "Orphanet:79506 MESH:C566270 DOID:0111370 OMIM:614028 UMLS:C3151467" -MONDO:0020334 "Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells." "EFO:0007359 UMLS:C0023461 DOID:9254 SCTID:110002002 Orphanet:158799 MedDRA:10056450 ICD10:C94.3 MESH:D007946 ICD10:C94.30 ONCOTREE:SMMCL Orphanet:98851 ICDO:9742/3 NCIT:C3169" -MONDO:0016480 "ICD10:Q87.1 Orphanet:231140 UMLS:CN201475" +MONDO:0020334 "Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells." "EFO:0007359 UMLS:C0023461 DOID:9254 SCTID:110002002 Orphanet:158799 MedDRA:10056450 MESH:D007946 ONCOTREE:SMMCL Orphanet:98851 ICD10CM:C94.3 ICDO:9742/3 NCIT:C3169" +MONDO:0016480 "ICD10CM:Q87.1 Orphanet:231140 UMLS:CN201475" GO:0016755 "Catalysis of the transfer of an amino-acyl group from one compound (donor) to another (acceptor)." HP:0030829 "An anomalous (adventitious) sound produced by the breathing process." "UMLS:C0231856 SNOMEDCT_US:301273002" CHR:9606-chr17q11 -MONDO:0018762 "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis." "ICD10:E23.0 Orphanet:467" +MONDO:0018762 "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis." "Orphanet:467 ICD10CM:E23.0" GO:0030099 "The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages." MONDO:0021546 "An ependymal tumor that arises from the spinal cord." "UMLS:C4318747 NCIT:C131526" MONDO:0060510 "OMIM:617561 UMLS:C4479654" -MONDO:0009756 "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." "ICD10:E75.2 Orphanet:77292 UMLS:C0268242 SCTID:52165006 GARD:0007206 NCIT:C126561 DOID:0070111 OMIM:257200 MESH:D052536" +MONDO:0009756 "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." "Orphanet:77292 UMLS:C0268242 SCTID:52165006 GARD:0007206 NCIT:C126561 ICD10CM:E75.2 DOID:0070111 OMIM:257200 MESH:D052536" HP:0006483 "The presence of an altered number of of teeth." "UMLS:C1290508 SNOMEDCT_US:335443002" MONDO:0013535 "UMLS:C3279657 OMIM:614033 MESH:C564215" FOODON:03420165 "http://www.langual.org/langual_thesaurus.asp?termid=C0165" @@ -31149,17 +31130,17 @@ GO:0070278 "The controlled release of molecules that form the extracellular matr http://identifiers.org/hgnc/12559 NCBITaxon:2560074 "GC_ID:1" GO:0004509 "Catalysis of the reaction: A C(21) steroid + [reduced NADPH--hemoprotein reductase] + O(2) = a 21-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H(2)O." -MONDO:0008907 "PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." "DOID:0080552 NCIT:C126868 OMIM:212065 SCTID:459063003 UMLS:C0349653 Orphanet:79318 MESH:C535739 ICD10:E77.8 GARD:0009826" -MONDO:0009344 "Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988." "ICD10:Q43.1 GARD:0000584 SCTID:721223002 Orphanet:2153 MESH:C535615 OMIM:235760" +MONDO:0008907 "PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." "DOID:0080552 NCIT:C126868 OMIM:212065 SCTID:459063003 UMLS:C0349653 Orphanet:79318 MESH:C535739 GARD:0009826 ICD10CM:E77.8" +MONDO:0009344 "Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988." "GARD:0000584 SCTID:721223002 Orphanet:2153 MESH:C535615 OMIM:235760 ICD10CM:Q43.1" CHR:9606-chr17q12 MONDO:0012337 "OMIM:609745 UMLS:C1857852 MESH:C565724" MONDO:0016104 "OBSOLETE. An infectious process affecting the peripheral nerves." "NCIT:C27589 Orphanet:206613 UMLS:C1278821" -MONDO:0010913 "Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts." "MESH:D016767 OMIM:600643 GARD:0006002 SCTID:717232005 EFO:1001286 DOID:0050876 NCIT:C84619 UMLS:C1833541 ICD10:Q44.6 UMLS:C0162510 MedDRA:10013003 Orphanet:53035" +MONDO:0010913 "Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts." "MESH:D016767 OMIM:600643 GARD:0006002 SCTID:717232005 EFO:1001286 DOID:0050876 ICD10CM:Q44.6 NCIT:C84619 UMLS:C1833541 UMLS:C0162510 MedDRA:10013003 Orphanet:53035" HP:0025323 "An anomaly of arterial function." GO:0044782 "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole." NCBITaxon:83137 "GC_ID:1" UBERON:0003259 -MONDO:0018889 "OMIM:255160 GARD:0007148 OMIM:608358 ICD10:G71.2 Orphanet:53698 DOID:0111267" +MONDO:0018889 "OMIM:255160 GARD:0007148 OMIM:608358 ICD10CM:G71.2 Orphanet:53698 DOID:0111267" HP:0012862 "Any structural anomaly of a reproductive cell." "UMLS:C4022704" FOODON:03412611 "A female goat"@en HP:0001289 "Lack of clarity and coherence of thought, perception, understanding, or action." "SNOMEDCT_US:286933003 MSH:D003221 UMLS:C0009676" @@ -31169,7 +31150,7 @@ ENVO:09200004 "The porosity of some soil." CHEBI:35441 "A substance used in the prophylaxis or therapy of infectious diseases." UBERON:0004456 MONDO:0002753 -MONDO:0006744 "An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo." "ICD9:386.8 ICD10:H81.0 MedDRA:10049934 UMLS:C0206586 DOID:9848 SCTID:27621000119100 EFO:1000918 MESH:D018159" +MONDO:0006744 "An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo." "ICD9:386.8 MedDRA:10049934 UMLS:C0206586 DOID:9848 SCTID:27621000119100 EFO:1000918 MESH:D018159" MONDO:0019820 "Orphanet:95483" MONDO:0023569 "GARD:0003139 UMLS:C2931512 MESH:C537508" MONDO:0018829 "An instance of schizencephaly that is caused by an inherited modification of the individual's genome." "MESH:C538514 UMLS:CN776926 Orphanet:481986 UMLS:C2931870 GARD:0000166" @@ -31181,69 +31162,69 @@ GO:0090032 "Any process that decreases the frequency, rate or extent of the chem HP:0031058 "Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure." MONDO:0003666 "An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis." "NCIT:C6279 UMLS:C1333592 DOID:5831" MONDO:0006981 "Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between \"acute\" and \"subacute\" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation." "UMLS:C0014122 MESH:D004698 SCTID:73774007 NCIT:C34583 EFO:1001193 MedDRA:10042271 DOID:4562" -MONDO:0019164 "6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations." "Orphanet:75857 UMLS:C4304514 UMLS:CN205719 SCTID:719666002 ICD10:Q93.5" -MONDO:0018624 "Orphanet:443180 UMLS:CN237665 ICD10:G96.0" +MONDO:0019164 "6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations." "Orphanet:75857 UMLS:C4304514 UMLS:CN205719 ICD10CM:Q93.5 SCTID:719666002" +MONDO:0018624 "Orphanet:443180 UMLS:CN237665" MONDO:0100334 NCBITaxon:83136 "GC_ID:1" MONDO:0000357 MONDO:0010584 "X-linked form of dyskeratosis congenita." "NCIT:C126352 Orphanet:1775 GARD:0002007 SCTID:708536001 Orphanet:3322 OMIM:305000 UMLS:C1846142 DOID:0070025" MONDO:0021144 "A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells." "UMLS:C0346164 NCIT:C40076 ONCOTREE:CCOV" -MONDO:0002056 "A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported." "EFO:1000254 DOID:1618 MESH:D018226 UMLS:C0178421 UMLS:C0346158 SCTID:254847007 NCIT:C3744 ONCOTREE:FA ICDO:9010/0 ICD10:D24 UMLS:C0206650" +MONDO:0002056 "A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported." "EFO:1000254 DOID:1618 MESH:D018226 UMLS:C0178421 UMLS:C0346158 SCTID:254847007 NCIT:C3744 ONCOTREE:FA ICDO:9010/0 UMLS:C0206650" http://identifiers.org/hgnc/1353 MONDO:0006557 "A hemangioma arising from the subcutaneous soft tissues." "DOID:13081 EFO:1000707 SCTID:93473009 NCIT:C8540 UMLS:C0685200" -MONDO:0017426 "ICD10:Q69.0 GARD:0012460 SCTID:205131007 Orphanet:294942" +MONDO:0017426 "ICD10CM:Q69.0 GARD:0012460 SCTID:205131007 Orphanet:294942" MONDO:0015029 "UMLS:CN197319 Orphanet:100000" NCBITaxon:2072716 "GC_ID:1" -MONDO:0004596 "Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism." "SCTID:274096000 UMLS:C0034072 ICD10:I27.81 ICD10:I27.9 MESH:D011660 DOID:8515" +MONDO:0004596 "Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism." "SCTID:274096000 UMLS:C0034072 ICD10CM:I27.81 ICD10CM:I26-I28 MESH:D011660 DOID:8515" GO:0046890 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids." UBERON:0035529 -MONDO:0019885 "Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported." "MESH:C538294 ICD10:Q92.3 Orphanet:96103 SCTID:764447009" +MONDO:0019885 "Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported." "MESH:C538294 Orphanet:96103 SCTID:764447009" HP:0100765 "An abnormality of the tonsils." "UMLS:C4021975" MONDO:0021657 "A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor." "ONCOTREE:SCST EFO:1000430 UMLS:C0600113 NCIT:C4862 GARD:0012285 DOID:0080369" UBERON:0039222 UBERON:0037089 -MONDO:0018621 "Orphanet:443159 ICD10:C83.0" +MONDO:0018621 "Orphanet:443159 ICD10CM:C83.0" MONDO:0016226 "UMLS:CN200992 Orphanet:211053" UBERON:0005656 MONDO:0004165 "A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection." "ICD9:279.03 DOID:7263 NCIT:C27144 SCTID:234541006 UMLS:C0398695" -MONDO:0004946 "Abnormally low level of glucose in the blood." "UMLS:C0020615 SCTID:302866003 DOID:9993 ICD10:E16.2 ICD9:251.1 MESH:D007003 ICD9:251.2 NCIT:C3126" +MONDO:0004946 "Abnormally low level of glucose in the blood." "UMLS:C0020615 SCTID:302866003 DOID:9993 ICD9:251.1 MESH:D007003 ICD9:251.2 NCIT:C3126" MONDO:0000356 -MONDO:0018935 "Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections." "ICDO:9940/3 Orphanet:58017 ICD10:C91.4 MedDRA:10019055 UMLS:C0023443 NCIT:C7402 MESH:D007943 SCTID:118613001 ONCOTREE:HCL ICD10:C91.40 DOID:285 EFO:1000956 ICD9:202.4 MedDRA:10019053 GARD:0006560" +MONDO:0018935 "Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections." "ICDO:9940/3 Orphanet:58017 MedDRA:10019055 ICD10CM:C91.4 UMLS:C0023443 NCIT:C7402 MESH:D007943 SCTID:118613001 ONCOTREE:HCL DOID:285 EFO:1000956 ICD9:202.4 MedDRA:10019053 GARD:0006560" MONDO:0004051 "DOID:6958 NCIT:C5630 UMLS:C1332232" MONDO:0024432 "A disease that involves the nerve plexus." "SCTID:2231001 DOID:3688 NCIT:C27744 UMLS:C1335437" -MONDO:0017689 "UMLS:C0342744 ICD10:E74.1 Orphanet:308463 SCTID:39452003" +MONDO:0017689 "UMLS:C0342744 Orphanet:308463 SCTID:39452003" MONDO:0019822 "Orphanet:95485" MONDO:0010195 http://identifiers.org/hgnc/1356 MONDO:0020198 "OBSOLETE. Rare conjunctival disease." "Orphanet:98610" -MONDO:0017423 "Orphanet:294935 ICD10:Q71.6 ICD10:Q72.7" +MONDO:0017423 "Orphanet:294935 ICD10CM:Q72.7 ICD10CM:Q71.6" ENVO:02500028 "An action of exogenic processes (such as water flow or wind) which remove environmental material from one part of a planet's crust, transporting it to another location where it is deposited." MONDO:0023567 "GARD:0003136 MESH:C537506 UMLS:C2931511" MONDO:0015246 "A anorectal malformation that is part of a larger syndrome." "Orphanet:117573 UMLS:CN226645" -MONDO:0018855 "An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair." "Orphanet:498 MESH:C537412 GARD:0001042 ICD10:L85.8 ICD9:757.39 SCTID:400059005 OMIM:604093" +MONDO:0018855 "An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair." "SCTID:400059005 GARD:0001042 Orphanet:498 MESH:C537412 ICD9:757.39 OMIM:604093 ICD10CM:L85.8" MONDO:0014744 "An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13." "OMIM:616719 UMLS:C4225236 DOID:0111155 Orphanet:466794" -MONDO:0001912 "Acute form of frontal sinusitis." "SCTID:91038008 ICD10:J01.10 UMLS:C0155805 DOID:14225 ICD10:J01.1 ICD9:461.1" +MONDO:0001912 "Acute form of frontal sinusitis." "SCTID:91038008 UMLS:C0155805 DOID:14225 ICD10CM:J01.1 ICD9:461.1" HP:0031247 "A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air." NCBITaxon:83138 "GC_ID:1" -MONDO:0005538 "An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease." "NCIT:C38011 MESH:D011349 UMLS:C0033246 ICD9:569.49 ICD10:K62.89 SCTID:3951002 DOID:3127 EFO:0005628" +MONDO:0005538 "An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease." "NCIT:C38011 MESH:D011349 UMLS:C0033246 ICD9:569.49 SCTID:3951002 DOID:3127 EFO:0005628" GO:0048259 "Any process that modulates the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport." MONDO:0018622 http://identifiers.org/hgnc/2553 -MONDO:0018888 "ICD10:Q13.4 OMIM:121400 Orphanet:53691 OMIM:217300" -MONDO:0011473 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene." "UMLS:C1858301 ICD10:H35.5 MESH:C536602 GARD:0009983 DOID:0110215 OMIM:604537" -MONDO:0015540 "Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis)." "ICD9:288.8 NCIT:C34792 OMIM:603553 OMIM:608898 OMIM:267700 OMIM:613101 ICD10:D76.1 Orphanet:158032 DOID:0050120 UMLS:C3887558 OMIM:603552 GARD:0006589 MedDRA:10058125 SCTID:234437005 NCIT:C35439 UMLS:C0024291 Orphanet:540" +MONDO:0018888 "ICD10CM:Q13.4 OMIM:121400 Orphanet:53691 OMIM:217300" +MONDO:0011473 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene." "UMLS:C1858301 MESH:C536602 GARD:0009983 DOID:0110215 OMIM:604537" +MONDO:0015540 "Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis)." "ICD9:288.8 NCIT:C34792 OMIM:603553 OMIM:608898 OMIM:267700 OMIM:613101 Orphanet:158032 DOID:0050120 UMLS:C3887558 OMIM:603552 GARD:0006589 MedDRA:10058125 SCTID:234437005 NCIT:C35439 UMLS:C0024291 Orphanet:540" MONDO:0021640 "A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma." "UMLS:C4287997 NCIT:C127816" GO:0007088 "Any process that modulates the frequency, rate or extent of mitosis." -MONDO:0013914 "A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21." "DOID:0090072 MESH:C535764 ICD10:E23.0 UMLS:C1856897 OMIM:614841 GARD:0000276" +MONDO:0013914 "A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21." "DOID:0090072 MESH:C535764 OMIM:227200 UMLS:C1856897 OMIM:614841 GARD:0000276" HP:0003826 "Death of the fetus in utero after at least 20 weeks of gestation." "SNOMEDCT_US:237364002 MSH:D050497 UMLS:C0015927 MSH:D005313 UMLS:C0595939 SNOMEDCT_US:276507005" MONDO:0020094 "OBSOLETE. Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature." "Orphanet:98352 UMLS:CN206998" -MONDO:0005373 "Infections with bacteria of the species neisseria meningitidis." "ICD9:036.89 ICD10:A39 GARD:0007169 ICD9:036.9 MESH:D008589 EFO:0004249 UMLS:C0025303 ICD9:036 GARD:0009547 SCTID:23511006" -MONDO:0019821 "Orphanet:95484 ICD10:Q25.4" +MONDO:0005373 "Infections with bacteria of the species neisseria meningitidis." "ICD9:036.89 ICD10CM:A39 GARD:0007169 ICD9:036.9 MESH:D008589 EFO:0004249 UMLS:C0025303 ICD9:036 GARD:0009547 SCTID:23511006" +MONDO:0019821 "Orphanet:95484 ICD10CM:Q25.4" MONDO:0005302 "A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life." "SCTID:406506008 OMIM:608905 ICD9:314.01 OMIM:608903 OMIM:608906 ICD9:314.8 OMIM:613003 MESH:D001289 OMIM:143465 OMIM:612311 NCIT:C97160 NCIT:C35092 DOID:1094 OMIM:608904 OMIM:612312 ICD9:314.9 EFO:0003888" MONDO:0017424 "SCTID:43476002 Orphanet:294937" MONDO:0100184 "A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset \"benign\" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease." UBERON:0001959 -MONDO:0012591 "Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI)." "ICD10:Q78.0 UMLS:C1970414 MESH:C567042 GARD:0008699 OMIM:610967 DOID:0110344 Orphanet:216828" +MONDO:0012591 "Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI)." "UMLS:C1970414 MESH:C567042 ICD10CM:Q78.0 GARD:0008699 OMIM:610967 DOID:0110344 Orphanet:216828" GO:0006664 "The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent." NCBITaxon:2547934 "GC_ID:1" MONDO:0000354 @@ -31253,33 +31234,33 @@ UBERON:0002057 MONDO:0024876 "A disease that involves the tendon sheath." "UMLS:C0729734 SCTID:312381009 ICD9:727.9" MONDO:0010197 "Orphanet:2053 MESH:C536699 DOID:0111606 UMLS:C1848470 GARD:0010024 OMIM:277720" http://identifiers.org/hgnc/1358 -MONDO:0007413 "Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." "OMIM:123853 ICD10:Q87.8 SCTID:732261005 MESH:C536229 GARD:0009487 Orphanet:2674 UMLS:C1852396" +MONDO:0007413 "Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." "OMIM:123853 SCTID:732261005 MESH:C536229 GARD:0009487 Orphanet:2674 ICD10CM:Q87.8 UMLS:C1852396" UBERON:0006855 MONDO:0003737 "A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor." "UMLS:C1515288 NCIT:C39942 DOID:6021" -MONDO:0008993 "Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." "Orphanet:2010 UMLS:C1859081 GARD:0001393 MESH:C565844 OMIM:216300 ICD10:Q87.8" +MONDO:0008993 "Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971." "Orphanet:2010 ICD10CM:Q87.8 UMLS:C1859081 GARD:0001393 MESH:C565844 OMIM:216300" MONDO:0017421 "Orphanet:294929" UBERON:0004452 -MONDO:0001972 "A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain." "SCTID:427999003 ICD10:A23.0 UMLS:C0302362 DOID:14456 ICD9:023.0" +MONDO:0001972 "A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain." "SCTID:427999003 UMLS:C0302362 DOID:14456 ICD9:023.0" CL:0002076 "An epithelial cell derived from endoderm." "FMA:69075" http://identifiers.org/hgnc/2555 MONDO:0011394 MONDO:0013791 "UMLS:C3281092 Orphanet:743 OMIM:614514" -MONDO:0013364 "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene." "Orphanet:783 UMLS:C3150941 ICD10:Q87.2 Orphanet:353284 NCIT:C153291 OMIM:613684" +MONDO:0013364 "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene." "Orphanet:783 UMLS:C3150941 Orphanet:353284 NCIT:C153291 ICD10CM:Q87.2 OMIM:613684" MONDO:0042976 "A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat." "SCTID:47903000 UMLS:C0042850 NCIT:C35129 MESH:D014804" -MONDO:0018620 "Orphanet:443101 UMLS:CN237660 ICD10:E23.3" +MONDO:0018620 "Orphanet:443101 UMLS:CN237660 ICD10CM:E23.3" NCBITaxon:1884633 "GC_ID:1" -MONDO:0009270 "Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies." "UMLS:C1856466 ICD10:Q87.8 GARD:0002460 Orphanet:2075 OMIM:231060 MESH:C537683" +MONDO:0009270 "Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies." "UMLS:C1856466 ICD10CM:Q87.8 GARD:0002460 Orphanet:2075 OMIM:231060 MESH:C537683" UBERON:0001958 -MONDO:0014273 "Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated." "ICD10:Q87.8 UMLS:C3810080 Orphanet:397951 OMIM:615599" +MONDO:0014273 "Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated." "UMLS:C3810080 Orphanet:397951 ICD10CM:Q87.8 OMIM:615599" http://identifiers.org/hgnc/11354 MONDO:0018886 -MONDO:0018314 "A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities." "ICD10:G40.2 Orphanet:391316 UMLS:CN204956" +MONDO:0018314 "A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities." "ICD10CM:G40.2 Orphanet:391316 UMLS:CN204956" MONDO:0016223 "UMLS:CN226884 SCTID:703270004 UMLS:C3839613 Orphanet:210589" -MONDO:0001684 "Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders." "ICD10:K86.81 NCIT:C84316 ICD9:577.8 SCTID:47367009 MESH:D010188 DOID:13316 UMLS:C0267963" +MONDO:0001684 "Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders." "ICD10CM:K86.81 NCIT:C84316 ICD9:577.8 SCTID:47367009 MESH:D010188 DOID:13316 UMLS:C0267963" UBERON:0003254 NCBITaxon:1206795 "GC_ID:1" MONDO:0100338 -MONDO:0001551 "DOID:12566 ICD9:616.50 ICD9:616.51 ICD10:N77.0 ICD10:N76.6 UMLS:C0156339 SCTID:68640004" +MONDO:0001551 "DOID:12566 ICD9:616.50 ICD9:616.51 UMLS:C0156339 SCTID:68640004 ICD10CM:N76.6" MONDO:0000353 http://identifiers.org/hgnc/3754 UBERON:0002056 @@ -31290,7 +31271,7 @@ MONDO:0024507 "Orphanet:250923 SCTID:253231007 OMIM:106210 UMLS:C0003076" MONDO:0025701 "OMIM:619328" MONDO:0017688 "Orphanet:308459 UMLS:CN227176" MONDO:0002788 "A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" "ICDO:9352/1 DOID:3847 UMLS:C0431128 MESH:D003397 EFO:1000447 NCIT:C4725" -MONDO:0017422 "Orphanet:294931 ICD10:Q71.3" +MONDO:0017422 "Orphanet:294931 ICD10CM:Q71.3" GO:1901607 "The chemical reactions and pathways resulting in the formation of an alpha-amino acid." UBERON:0004453 MONDO:0006633 "Inflammation of the gallbladder in the absence of gallstones." "EFO:1000790 MedDRA:10000347 NCIT:C35578 DOID:2828 UMLS:C0267841 SCTID:19968009 MESH:D042101 UMLS:C0267842" @@ -31308,20 +31289,20 @@ UBERON:0005652 CL:1000467 "A chromaffin cell that is part of the left ovary." "FMA:74321" NCBITaxon:1206794 "GC_ID:1" MONDO:0001550 -MONDO:0009140 "Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities." "SCTID:93132001 DOID:0090032 ICD9:759.89 Orphanet:1865 OMIM:224410 GARD:0002026 ICD10:Q77.7 MESH:C537998" +MONDO:0009140 "Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities." "SCTID:93132001 DOID:0090032 ICD9:759.89 Orphanet:1865 OMIM:224410 GARD:0002026 ICD10CM:Q77.7 MESH:C537998" NCBITaxon:1056966 "GC_ID:1" MONDO:0005469 "Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up." "ICD9:458.0 HP:0001278 SCTID:28651003 NCIT:C84970 EFO:0005252" http://identifiers.org/hgnc/3755 UBERON:0002059 -MONDO:0022109 "UMLS:C1861799 GARD:0010080 MESH:C535346" +MONDO:0022109 "OMIM:116850 UMLS:C1861799 GARD:0010080 MESH:C535346" UBERON:0004454 -MONDO:0012594 "ICD10:D84.1 MESH:C572568 DOID:0050419 OMIM:610984 Orphanet:200418 UMLS:C3463916" +MONDO:0012594 "MESH:C572568 DOID:0050419 OMIM:610984 Orphanet:200418 UMLS:C3463916 ICD10CM:D84.1" UBERON:0006853 MONDO:0021315 "A cancer that involves the nasopharynx." "NCIT:C9321 SCTID:187692001 UMLS:C0238301 ICD9:147.8 UMLS:C0153392 ICD9:147.9" -MONDO:0013168 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene." "OMIM:613172 DOID:0110447 MESH:C567725 ICD10:I42.0 UMLS:C2750995" -MONDO:0016315 "Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." "ICD10:E76.1 SCTID:73146005 UMLS:CN201131 Orphanet:217085" +MONDO:0013168 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene." "OMIM:613172 DOID:0110447 MESH:C567725 UMLS:C2750995 ICD10CM:I42.0" +MONDO:0016315 "Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." "ICD10CM:E76.1 SCTID:73146005 UMLS:CN201131 Orphanet:217085" MONDO:0021168 "A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults." "UMLS:C0205822 NCIT:C3702 ICDO:8880/0 SCTID:404064001" -MONDO:0017685 "UMLS:CN203582 OMIM:277410 ICD10:E71.1 Orphanet:308442" +MONDO:0017685 "UMLS:CN203582 ICD10CM:E71.1 OMIM:277410 Orphanet:308442" GO:0016447 "The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus." GO:0099160 "The intermediate filament cytoskeleton that is part of a postsynapse." GO:0045765 "Any process that modulates the frequency, rate or extent of angiogenesis." @@ -31332,17 +31313,17 @@ MONDO:0021534 "A well differentiated, low grade neuroendocrine tumor (carcinoid ECTO:0000496 "An exposure to alkylating agent." HP:0012758 "UMLS:C4022738" MONDO:0100468 "A congenital myopathy described by Batten (1910) and later Turner (1949) and Turner and Lees (1962) in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy." "OMIM:255300" -MONDO:0010549 "Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females." "DOID:0110209 NCIT:C129068 ICD10:G60.0 Orphanet:101075 GARD:0001258 SCTID:763455008 UMLS:C0393808 OMIM:302800" +MONDO:0010549 "Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females." "DOID:0110209 NCIT:C129068 ICD10CM:G60.0 Orphanet:101075 GARD:0001258 SCTID:763455008 UMLS:C0393808 OMIM:302800" MONDO:0014599 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene." "DOID:0070064 OMIM:616351" MONDO:0016221 "Orphanet:210581" -MONDO:0009058 "Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases." "NCIT:C129070 ICD10:E72.1 SCTID:13003007 UMLS:C3495552 UMLS:C0268616 UMLS:C0220993 OMIM:219500 HP:0003153 DOID:0090142 Orphanet:212 GARD:2428 GARD:0002428" +MONDO:0009058 "Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases." "NCIT:C129070 SCTID:13003007 UMLS:C3495552 UMLS:C0268616 UMLS:C0220993 OMIM:219500 HP:0003153 DOID:0090142 Orphanet:212 ICD10CM:E72.1 GARD:2428 GARD:0002428" CL:0000624 "A mature alpha-beta T cell that expresses an alpha-beta T cell receptor and the CD4 coreceptor." UBERON:0004455 http://identifiers.org/hgnc/3756 http://identifiers.org/hgnc/19869 -MONDO:0018845 "Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities." "Orphanet:48918 ICD9:729.1 ICD10:M60.8 SCTID:240119009" -MONDO:0019202 "A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma." "ICD10:C49.9 ONCOTREE:MFS ICDO:8811/3 NCIT:C6496 DOID:0080534 SCTID:253042009 MedDRA:10066948 Orphanet:79105" -MONDO:0012324 "A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression." "Orphanet:2055 MESH:C535639 ICD10:Q93.5 OMIM:609640 UMLS:C1864825 GARD:0002384 Orphanet:264200" +MONDO:0018845 "Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities." "ICD10CM:M60.8 Orphanet:48918 ICD9:729.1 SCTID:240119009" +MONDO:0019202 "A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma." "ONCOTREE:MFS ICDO:8811/3 NCIT:C6496 ICD10CM:C49.9 DOID:0080534 SCTID:253042009 MedDRA:10066948 Orphanet:79105" +MONDO:0012324 "A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression." "Orphanet:2055 MESH:C535639 OMIM:609640 UMLS:C1864825 GARD:0002384 ICD10CM:Q93.5 Orphanet:264200" MONDO:0004705 "A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort." "NCIT:C5752 UMLS:C1333965 DOID:907" MONDO:0000901 "A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission." "DOID:0080192" CHEBI:78295 "Any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants." @@ -31356,10 +31337,10 @@ MONDO:0001940 "Inflammation of the lung parenchyma that is associated with pleur http://identifiers.org/hgnc/27030 http://identifiers.org/hgnc/838 MONDO:0001118 "A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy." "SCTID:68981009 UMLS:C2979888 ICD9:082.3 DOID:10784" -MONDO:0011964 "DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3)." "ICD10:E77.8 OMIM:608093 NCIT:C126874 GARD:0009837 Orphanet:86309 SCTID:725079003 DOID:0080562 UMLS:C2931004 MESH:C535748" +MONDO:0011964 "DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3)." "ICD10CM:E77.8 OMIM:608093 NCIT:C126874 GARD:0009837 Orphanet:86309 SCTID:725079003 DOID:0080562 UMLS:C2931004 MESH:C535748" NBO:0000313 "\"The action, reaction, or performance of an organism in response to external or internal stimuli.\" [GO:GO\\:0007610]" GO:0045058 "The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation." -MONDO:0015421 "Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated." "SCTID:763834000 Orphanet:141327 UMLS:C2932679 GARD:0010693 ICD10:Q87.0 MESH:C548034" +MONDO:0015421 "Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated." "ICD10CM:Q87.0 SCTID:763834000 Orphanet:141327 UMLS:C2932679 GARD:0010693 MESH:C548034" MONDO:0002725 NCBITaxon:325675 "GC_ID:1" MONDO:0005032 "A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics." "DOID:6204 UMLS:C0151468 UMLS:C0205647 EFO:0000499 MESH:D000236 SCTID:255034006 ICDO:8330/0 NCIT:C3502" @@ -31377,9 +31358,9 @@ MONDO:0006626 "A chronic, pathological complication associated with diabetes mel MONDO:0022470 "A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis." "GARD:0000742" UBERON:0005695 MONDO:0022399 "Orphanet:156171" -MONDO:0009402 "A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." "SCTID:721835008 MESH:C538332 ICD10:Q87.8 Orphanet:2211 GARD:0000287 OMIM:239710" +MONDO:0009402 "A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." "ICD10CM:Q87.8 SCTID:721835008 MESH:C538332 Orphanet:2211 GARD:0000287 OMIM:239710" GO:0097529 "The movement of a myeloid leukocyte within or between different tissues and organs of the body." -MONDO:0017859 "A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days." "Orphanet:31824 ICD10:T50.4 ICD9:974.7 UMLS:CN203894 SCTID:24354007" +MONDO:0017859 "A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days." "Orphanet:31824 ICD10CM:T50.4 ICD9:974.7 UMLS:CN203894 SCTID:24354007" http://identifiers.org/hgnc/17208 MONDO:0021043 "A neoplasm composed of at least two distinct cellular populations." "ICDO:8940/1 MESH:D018193 NCIT:C6930" CHEBI:50315 @@ -31389,7 +31370,7 @@ GO:0006417 "Any process that modulates the frequency, rate or extent of the chem MONDO:0020645 "Autosomal dominant form of osteopetrosis (disease)." "OMIMPS:607634 UMLS:C4272579" GO:0099182 "The intermediate filament cytoskeleton that is part of a presynapse." http://identifiers.org/hgnc/24539 -MONDO:0007534 "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." "Orphanet:116 GARD:0003343 MedDRA:10050344 UMLS:C0004903 OMIM:130650 MESH:D001506 NCIT:C34415 DOID:5572 SCTID:81780002 ICD9:759.89 ICD10:Q87.3" +MONDO:0007534 "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." "Orphanet:116 GARD:0003343 MedDRA:10050344 UMLS:C0004903 OMIM:130650 MESH:D001506 ICD10CM:Q87.3 NCIT:C34415 DOID:5572 SCTID:81780002 ICD9:759.89" MONDO:0000543 "A melanoma (disease) that involves the ovary." "DOID:0050928" MONDO:0007882 "OMIM:150500 MESH:C563633 UMLS:C1835491" UBERON:0001739 @@ -31399,20 +31380,20 @@ MONDO:0013725 "Any hereditary nonpolyposis colon cancer in which the cause of th GO:0004614 "Catalysis of the reaction: alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate." MONDO:0010429 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene." "OMIM:300802 UMLS:C3275408" CL:0002191 "A cell involved in the formation of a granulocyte." "FMA:83519" -MONDO:0004732 "A carcinoma in situ involving a kidney." "UMLS:C0686172 ICD10:D09.1 SCTID:92624000 ICD9:233.9 DOID:9234" -MONDO:0001277 "An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery." "ICD9:437.4 SCTID:28366008 UMLS:C0007773 DOID:11390" +MONDO:0004732 "A carcinoma in situ involving a kidney." "UMLS:C0686172 SCTID:92624000 ICD9:233.9 DOID:9234" +MONDO:0001277 "An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery." "ICD9:437.4 UMLS:C0007773 SCTID:28366008 DOID:11390" GO:0002292 "The process in which an antigenically naive T cell acquires the specialized features of an effector, regulatory, or memory T cell as part of an immune response. Effector T cells include cells which provide T cell help or exhibit cytotoxicity towards other cells." MONDO:0004023 MONDO:0002723 MONDO:0000329 -MONDO:0005961 "An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity." "EFO:0007486 SCTID:36971009 ICD10:J01 ICD10:J01.9 MESH:D012852 NCIT:C35024 ICD9:461 ICD10:J01.90 UMLS:C0037199 ICD9:461.9 DOID:0050127" +MONDO:0005961 "An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity." "EFO:0007486 SCTID:36971009 MESH:D012852 NCIT:C35024 ICD9:461 UMLS:C0037199 ICD9:461.9 DOID:0050127" MONDO:0001527 "SCTID:1534008 ICD9:378.81 UMLS:C0702143 DOID:12445" -MONDO:0016769 "Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development." "SCTID:44509000 GARD:0011898 Orphanet:254379 UMLS:C0023650 ICD10:L43.8" +MONDO:0016769 "Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development." "SCTID:44509000 GARD:0011898 Orphanet:254379 UMLS:C0023650 ICD10CM:L43.8" UBERON:0004232 HP:0004377 "Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue)." "SNOMEDCT_US:269475001 UMLS:C0376545 SNOMEDCT_US:129154003 MSH:D019337" MONDO:0014709 "OMIM:616617 DOID:0080624 UMLS:C4225267" -MONDO:0018470 "Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s)." "HP:0000104 GARD:0009228 DOID:14766 ICD10:Q60.1 HP:0008678 ICD10:Q60.2 ICD10:Q60.0 OMIM:191830 OMIM:615721 OMIMPS:191830 Orphanet:411709 SCTID:204942005 NCIT:C99041" -MONDO:0004587 "An instance of night blindness that is caused by an inherited modification of the individual's genome." "ICD10:H53.63 SCTID:193687000 ICD9:368.61 DOID:8498" +MONDO:0018470 "Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s)." "HP:0000104 GARD:0009228 DOID:14766 HP:0008678 OMIM:191830 OMIM:615721 ICD10CM:Q60.1 ICD10CM:Q60.2 OMIMPS:191830 Orphanet:411709 SCTID:204942005 ICD10CM:Q60.0 NCIT:C99041" +MONDO:0004587 "An instance of night blindness that is caused by an inherited modification of the individual's genome." "SCTID:193687000 ICD9:368.61 DOID:8498" MONDO:0007883 "OMIM:150550 UMLS:C0272174 SCTID:71436005 MESH:C562721 ICD9:288.09" http://identifiers.org/hgnc/6284 MONDO:0001525 "DOID:12424 ICD9:246.0 UMLS:C0701822 SCTID:190303007" @@ -31427,15 +31408,15 @@ http://identifiers.org/hgnc/34383 GO:0046888 "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a hormone from a cell." CHEBI:28976 UBERON:0004233 -MONDO:0012699 "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." "OMIM:611588 DOID:0110296 GARD:0012538 UMLS:C1969040 Orphanet:206554 MESH:C566912 ICD10:G71.0" +MONDO:0012699 "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." "OMIM:611588 DOID:0110296 GARD:0012538 ICD10CM:G71.0 UMLS:C1969040 Orphanet:206554 MESH:C566912" MONDO:0003772 "A meningioma that affects the cerebral hemispheres." "NCIT:C4807 SCTID:189164002 DOID:6112 UMLS:C0542564" CL:0002145 "A ciliated columnar cell found in the trachea and bronchus. Vary from low to tall columnar; possesses up to 300 cilia at its surface, interspersed with long irregular microvilli with the cilia varying in length from about 6um in the trachea to about 4um in the terminal bronchioles; driving force of the ciliary current in the bronchial tree." "FMA:70542" -MONDO:0016504 "Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland." "SCTID:715868005 Orphanet:231580 ICD10:E26.0 UMLS:C4274967" +MONDO:0016504 "Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland." "SCTID:715868005 ICD10CM:E26.0 Orphanet:231580 UMLS:C4274967" http://identifiers.org/hgnc/2584 MONDO:0003371 "An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells." "DOID:5285 UMLS:C1332631 NCIT:C5186" -MONDO:0001524 "ICD9:360.29 ICD10:H44.39 DOID:1242" +MONDO:0001524 "ICD10CM:H43-H44 DOID:1242 ICD9:360.29" http://identifiers.org/hgnc/6283 -MONDO:0006786 "A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon." "EFO:1000966 ICD10:I82.0 SCTID:38739001 ICD9:453.0 MedDRA:10019713 MedDRA:10006537 DOID:11512" +MONDO:0006786 "A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon." "EFO:1000966 SCTID:38739001 ICD9:453.0 MedDRA:10019713 MedDRA:10006537 DOID:11512" MONDO:0006840 "Dilatation of the lymphatic vessels." "NCIT:C97087 EFO:1001025 MESH:D008200 UMLS:C0024214 GARD:0006933" MONDO:0000326 NCBITaxon:128827 "PMID:14742484 PMID:27270136 GC_ID:11" @@ -31444,28 +31425,28 @@ NCBITaxon:436489 "GC_ID:1" HP:0010884 "Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs." "UMLS:C4023675" UBERON:0003295 http://identifiers.org/hgnc/1386 -MONDO:0003832 "A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited." "UMLS:C0272242 ICD10:D84.1 NCIT:C4691 DOID:626 ICD10:D80-D89 SCTID:24743004 Orphanet:459345 ICD9:279.8" +MONDO:0003832 "A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited." "UMLS:C0272242 NCIT:C4691 DOID:626 SCTID:24743004 Orphanet:459345 ICD9:279.8" MONDO:0013236 "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene." "OMIM:613348 Orphanet:1333" MONDO:0020835 "OMIM:617973" UBERON:0004492 UBERON:0001732 -MONDO:0009902 "Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis." "DOID:13271 SCTID:67312003 OMIM:263700 GARD:0004446 NCIT:C84697 MESH:D017092 Orphanet:79277 ICD10:E80.0" +MONDO:0009902 "Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis." "DOID:13271 ICD10CM:E80.0 SCTID:67312003 OMIM:263700 GARD:0004446 NCIT:C84697 MESH:D017092 Orphanet:79277" UBERON:0002097 MONDO:0006883 "A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor." "EFO:1001080 SCTID:254638002 UMLS:C0549471 DOID:8007 NCIT:C7527 NCIT:C27710" GO:0044106 "The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group, as carried out by individual cells. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom." MONDO:0004282 MONDO:0003920 NCBITaxon:5807 "GC_ID:1" -MONDO:0007355 "Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant." "UMLS:C0795902 MESH:C535971 GARD:0001440 Orphanet:1473 OMIM:120433 DOID:0111249 ICD10:Q12.2" -MONDO:0001523 "DOID:1241 SCTID:20842008 ICD9:360.81 UMLS:C0154806 ICD10:H44.82" +MONDO:0007355 "Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant." "UMLS:C0795902 MESH:C535971 GARD:0001440 Orphanet:1473 OMIM:120433 ICD10CM:Q12.2 DOID:0111249" +MONDO:0001523 "DOID:1241 SCTID:20842008 ICD9:360.81 UMLS:C0154806" http://identifiers.org/hgnc/7481 UBERON:0003294 MONDO:0020175 "A cancer that involves the skin of eyelid." "Orphanet:98584 SCTID:423425006 UMLS:CN207035" MONDO:0000325 GO:0050679 "Any process that activates or increases the rate or extent of epithelial cell proliferation." UBERON:0005691 -MONDO:0006727 "Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling." "MESH:D054144 UMLS:C1135196 ICD10:I50.3 ICD10:I50.30 EFO:1000899 SCTID:418304008 ICD9:428.3 MedDRA:10069211 DOID:9775 ICD9:428.30" -MONDO:0019056 "Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions" "MESH:D009468 ICD9:358.9 DOID:440 MedDRA:10029323 ICD9:358 ICD10:G70.9 Orphanet:68381 UMLS:C0027868 EFO:1001902" +MONDO:0006727 "Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling." "MESH:D054144 UMLS:C1135196 EFO:1000899 SCTID:418304008 ICD9:428.3 MedDRA:10069211 DOID:9775 ICD9:428.30" +MONDO:0019056 "Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions" "MESH:D009468 ICD9:358.9 DOID:440 MedDRA:10029323 ICD9:358 Orphanet:68381 ICD10CM:G70-G73 UMLS:C0027868 EFO:1001902" HP:0002023 "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." "SNOMEDCT_US:204731006 UMLS:C0003466 MEDDRA:10002120 Fyler:4443 MSH:D001006 SNOMEDCT_US:204712000 Fyler:4402" GO:0042403 "The chemical reactions and pathways involving any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine." UBERON:0008192 @@ -31474,27 +31455,27 @@ ENVO:01000801 "An astronomical object which is composed primarily of luminous pl MONDO:0012513 "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene." "SCTID:609574004 DOID:0111106 Orphanet:552 OMIM:610508 MESH:C566466 UMLS:C1864839 GARD:0010661" http://identifiers.org/hgnc/1385 MONDO:0004128 "A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." "UMLS:C1335095 DOID:7169 NCIT:C6685" -MONDO:0005244 "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." "MedDRA:10034606 SCTID:42658009 UMLS:C0442874 ICD10:G62.9 SCTID:386033004 EFO:0003100 NCIT:C119734 EFO:0004149 DOID:870 NCIT:C4731" +MONDO:0005244 "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." "MedDRA:10034606 SCTID:42658009 UMLS:C0442874 SCTID:386033004 EFO:0003100 NCIT:C119734 EFO:0004149 DOID:870 NCIT:C4731" UBERON:0004493 UBERON:0001731 -MONDO:0019847 "ICD10:E27.1 Orphanet:95701" +MONDO:0019847 "ICD10CM:E27.1 Orphanet:95701" UBERON:0001997 NCBITaxon:2732559 "GC_ID:1" -MONDO:0019005 "Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure." "OMIM:613824 OMIM:602088 GARD:0000206 OMIM:613159 DOID:12712 OMIM:256100 ICD10:Q61.5 OMIM:604387 UMLS:C0687120 HP:0000090 OMIM:606966 UMLS:C2939174 NCIT:C123200 OMIM:615862 OMIMPS:256100 OMIM:614377 OMIM:613820 OMIM:615382 Orphanet:655 OMIM:611498" +MONDO:0019005 "Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure." "OMIM:613824 OMIM:602088 GARD:0000206 OMIM:613159 DOID:12712 ICD10CM:Q61.5 OMIM:256100 OMIM:604387 UMLS:C0687120 HP:0000090 OMIM:606966 UMLS:C2939174 NCIT:C123200 OMIM:615862 OMIMPS:256100 OMIM:614377 OMIM:613820 OMIM:615382 Orphanet:655 OMIM:611498" MONDO:0020836 "OMIMPS:209850" MONDO:0022011 "Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain." "MESH:C536241 GARD:0009731" ECTO:9001640 "An exposure to electron donor." -MONDO:0008389 "Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." "ICD9:759.89 ICD10:Q87.1 UMLS:C0265205 Orphanet:97360 SCTID:76520005 Orphanet:3107 OMIM:616331 UMLS:CN203673 OMIM:180700 OMIM:616894" +MONDO:0008389 "Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." "ICD9:759.89 UMLS:C0265205 Orphanet:97360 SCTID:76520005 ICD10CM:Q87.1 Orphanet:3107 OMIM:616331 UMLS:CN203673 OMIM:180700 OMIM:616894" NCBITaxon:5806 "GC_ID:1" UBERON:0001735 GO:0045984 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases." -MONDO:0014566 "Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated." "OMIM:616280 SCTID:765046002 UMLS:C4084821 DOID:0110173 Orphanet:397735 ICD10:G60.0" +MONDO:0014566 "Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated." "OMIM:616280 SCTID:765046002 UMLS:C4084821 DOID:0110173 Orphanet:397735 ICD10CM:G60.0" MONDO:0000324 -MONDO:0008818 "Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." "DOID:0050645 GARD:0000774 SCTID:458432002 Orphanet:3342 ICD10:Q87.82 UMLS:C1859726 ICD10:I77.1 OMIM:208050 MESH:C565942" +MONDO:0008818 "Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." "DOID:0050645 ICD10CM:Q87.82 GARD:0000774 SCTID:458432002 Orphanet:3342 ICD10CM:I77.1 UMLS:C1859726 OMIM:208050 MESH:C565942" GO:0045931 "Any process that activates or increases the rate or extent of progression through the mitotic cell cycle." UBERON:0003297 -MONDO:0001682 "A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae." "SCTID:13596001 UMLS:C0152953 DOID:13310 ICD9:032.83 ICD10:A36.89" -MONDO:0020439 "A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes." "HP:0001655 MedDRA:10016982 MESH:D054092 DOID:13620 NCIT:C34619 UMLS:C0016522 ICD10:Q21.1 Orphanet:99108" +MONDO:0001682 "A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae." "SCTID:13596001 UMLS:C0152953 DOID:13310 ICD9:032.83" +MONDO:0020439 "A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes." "ICD10CM:Q21.1 HP:0001655 MedDRA:10016982 MESH:D054092 DOID:13620 NCIT:C34619 UMLS:C0016522 Orphanet:99108" MONDO:0003334 "Polyneuropathy that is characterized by demyelination of axons." "SCTID:23414001 NCIT:C27062 ICD9:356.9 UMLS:C0270922 DOID:5214" MONDO:0015760 "A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003" "Orphanet:171918 SCTID:109978004 UMLS:C0079772 MESH:D016399 ICD9:202.70 MedDRA:10042971 NCIT:C3466" http://identifiers.org/hgnc/1388 @@ -31502,36 +31483,36 @@ MONDO:0002985 http://identifiers.org/hgnc/1122 MONDO:0005908 "A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia." "EFO:0007431 UMLS:C0949885 MESH:D029021" MONDO:0010194 "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene." "Orphanet:3449 OMIM:277600" -MONDO:0001787 "DOID:13738 ICD10:K76.3 ICD9:573.4 SCTID:17890003 UMLS:C0151731" +MONDO:0001787 "DOID:13738 ICD9:573.4 SCTID:17890003 UMLS:C0151731" MONDO:0020837 "OMIM:617996" UBERON:0002099 -MONDO:0015803 "Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum." "UMLS:C1306794 SCTID:398530003 ICD9:040.42 Orphanet:178475 ICD10:A48.52 ICD10:A05.1 DOID:0050353 NCIT:C128342" -MONDO:0019136 "Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue." "ICD10:B46.0 ICD10:B46.3 MESH:D009091 ICD10:B46.4 MESH:D020096 ICD10:B46.9 EFO:0007380 UMLS:C0043541 ICD10:B46 ICD10:B46.2 NCIT:C77212 MedDRA:10061418 SCTID:59277005 ICD10:B46.8 MedDRA:10028098 ICD10:B46.1 DOID:8485 SCTID:76627001 Orphanet:73263 ICD10:B46.5 ICD9:117.7 GARD:0010224" +MONDO:0015803 "Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum." "UMLS:C1306794 SCTID:398530003 ICD9:040.42 Orphanet:178475 ICD10CM:A05.1 ICD10CM:A48.52 DOID:0050353 NCIT:C128342" +MONDO:0019136 "Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue." "ICD10CM:B46.5 MESH:D009091 ICD10CM:B46.0 MESH:D020096 EFO:0007380 ICD10CM:B46.4 UMLS:C0043541 ICD10CM:B46.9 NCIT:C77212 MedDRA:10061418 ICD10CM:B46 SCTID:59277005 MedDRA:10028098 ICD10CM:B46.3 ICD10CM:B46.8 DOID:8485 SCTID:76627001 Orphanet:73263 ICD9:117.7 ICD10CM:B46.1 ICD10CM:B46.2 GARD:0010224" CL:0000221 "A cell of the outer of the three germ layers of the embryo." "FMA:72549" UBERON:0001734 GO:2000196 "Any process that activates or increases the frequency, rate or extent of female gonad development." http://identifiers.org/hgnc/4982 CL:0009031 "A T cell that is located in a vermiform appendix." -MONDO:0013531 "3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome." "SCTID:124432005 ICD10:E72.8 Orphanet:79350 OMIM:614023 UMLS:C1291463 DOID:0050724 ICD9:277.6" +MONDO:0013531 "3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome." "SCTID:124432005 ICD10CM:E72.8 Orphanet:79350 OMIM:614023 UMLS:C1291463 DOID:0050724 ICD9:277.6" NCBITaxon:1639119 "GC_ID:1" MONDO:0000323 UBERON:0003296 http://identifiers.org/hgnc/23338 -MONDO:0016823 "Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains." "Orphanet:2583 ICD10:B47.0 SCTID:410039003 ICD10:B47.9 MESH:D008271 NCIT:C85505 UMLS:C0024449 ICD10:B47 GARD:0003862 MedDRA:10028427 ICD10:B47.1" +MONDO:0016823 "Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains." "Orphanet:2583 SCTID:410039003 MESH:D008271 ICD10CM:B47.0 ICD10CM:B47 NCIT:C85505 ICD10CM:B47.1 UMLS:C0024449 ICD10CM:B47.9 GARD:0003862 MedDRA:10028427" MONDO:0002986 MONDO:0021237 "A neoplasm (disease) that involves the adrenal medulla." "NCIT:C4856 UMLS:C0596046" -MONDO:0012136 "The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." "MESH:C563463 ICD10:E71.3 Orphanet:228308 Orphanet:157 UMLS:C1833518 OMIM:608836" -MONDO:0001788 "ICD9:573.0 SCTID:34736002 DOID:13739 UMLS:C0156195 ICD10:K76.1" +MONDO:0012136 "The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." "MESH:C563463 ICD10CM:E71.3 Orphanet:228308 Orphanet:157 UMLS:C1833518 OMIM:608836" +MONDO:0001788 "ICD9:573.0 SCTID:34736002 DOID:13739 UMLS:C0156195" MONDO:0013416 "Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene." "OMIM:613778 DOID:0110020 UMLS:C3151070" UBERON:0001733 MONDO:0042983 "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs." "SCTID:78572006 UMLS:C0265316 MESH:D020752 NCIT:C84348" -MONDO:0019849 "Orphanet:95707 ICD10:Q55.6" +MONDO:0019849 "Orphanet:95707 ICD10CM:Q55.6" UBERON:0004495 MONDO:0004284 MONDO:0001459 "Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus." "SCTID:16644004 DOID:12171 UMLS:C0748226 MESH:D020425" ECTO:9001712 "An exposure to antiparasitic agent." MONDO:0009184 "OMIM:226735 MESH:C565588" -MONDO:0008758 "Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure." "GARD:0005783 NCIT:C35257 SCTID:20415001 ICD10:G31.8 ICD9:330.8 ICD10:G31.81 OMIM:203700 DOID:1442 MedDRA:10062943 UMLS:C0205710 Orphanet:726 DOID:0080122" +MONDO:0008758 "Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure." "GARD:0005783 NCIT:C35257 SCTID:20415001 ICD9:330.8 ICD10CM:G31.8 OMIM:203700 DOID:1442 MedDRA:10062943 UMLS:C0205710 Orphanet:726 DOID:0080122" MONDO:0007622 "OMIM:136150 UMLS:C1851056 MESH:C565009" MONDO:0020830 "SCTID:73160007 EFO:0000937 UMLS:C0011985" CL:0000675 "A mature sexual reproductive cell of the female germline." @@ -31540,9 +31521,9 @@ UBERON:0003291 http://identifiers.org/hgnc/16002 http://identifiers.org/hgnc/16268 MONDO:0013500 "UMLS:C3151402 OMIM:613953 UMLS:C4310803" -MONDO:0018926 "Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ)." "ICD10:A81.1 Orphanet:56970 ICD10:A81.8 ICD10:A81.0 ICD10:A81.9" +MONDO:0018926 "Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ)." "ICD10CM:A81.8 Orphanet:56970 ICD10CM:A81.1 ICD10CM:A81.9 ICD10CM:A81.0" MONDO:0000758 "A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals." "SCTID:58213005 UMLS:C0085434 NCIT:C3477 MESH:D016917 ICD9:083.8 DOID:0060345" -MONDO:0008637 "Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate." "Orphanet:99771 ICD10:Q35.7 SCTID:18910001 OMIM:192100" +MONDO:0008637 "Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate." "Orphanet:99771 SCTID:18910001 OMIM:192100" ECTO:7000083 "A exposure event involving the interaction of an exposure receptor to chemically enriched sediment." MONDO:0012568 "OMIM:610839 UMLS:C1835815" UBERON:0002093 @@ -31550,23 +31531,23 @@ MONDO:0004029 MONDO:0012302 "OMIM:609566 MESH:C563697 Orphanet:60015 UMLS:C1835980" UBERON:0001994 NCBITaxon:523089 "GC_ID:1" -MONDO:0012481 "Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes." "Orphanet:29 MedDRA:10072219 NCIT:C84890 DOID:0050452 UMLS:C0398691 OMIM:610377 GARD:0003588 ICD10:E88.8 UMLS:C1959626 SCTID:718558008" +MONDO:0012481 "Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes." "Orphanet:29 MedDRA:10072219 NCIT:C84890 DOID:0050452 UMLS:C0398691 ICD10CM:E88.8 OMIM:610377 GARD:0003588 UMLS:C1959626 SCTID:718558008" MONDO:0021202 "A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction." "UMLS:C0271447 SCTID:26169004" MONDO:0024422 "Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech." "UMLS:C0751257 NCIT:C84575 MESH:D001308 SCTID:229752008" MONDO:0007623 "UMLS:C1851055 OMIM:136200" -MONDO:0020831 "Orphanet:521438 OMIMPS:617660" +MONDO:0020831 "Orphanet:521438 OMIMPS:617660 OMIM:617661 OMIM:617660" http://identifiers.org/hgnc/16001 MONDO:0005226 HP:0002748 "Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets." "UMLS:C0035579 SNOMEDCT_US:41345002 MSH:D012279" MONDO:0007889 CHEBI:26596 "Any salt or ester arising from reaction of the carboxy group of salicylic acid, or any ester resulting from the condensation of the phenolic hydroxy group of salicylic acid with an organic acid." -MONDO:0018181 "A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection." "ICD10:L00 ICD9:695.81 MESH:D013206 MedDRA:10041929 EFO:0007473 SCTID:277475006 UMLS:C0038165 DOID:9063 UMLS:C0678185 NCIT:C85077 SCTID:200946001 Orphanet:36236" -MONDO:0010279 "Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis." "OMIM:300244 MESH:C564554 UMLS:C1846129 ICD10:Q87.2 Orphanet:88630" +MONDO:0018181 "A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection." "ICD9:695.81 MESH:D013206 MedDRA:10041929 EFO:0007473 SCTID:277475006 ICD10CM:L00 UMLS:C0038165 DOID:9063 UMLS:C0678185 NCIT:C85077 SCTID:200946001 Orphanet:36236" +MONDO:0010279 "Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis." "OMIM:300244 MESH:C564554 UMLS:C1846129 ICD10CM:Q87.2 Orphanet:88630" UBERON:0003290 -MONDO:0015771 "Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported." "Orphanet:1747 UMLS:CN036006 GARD:0005354 SCTID:764630003 MESH:C537822 ICD10:Q92.1" +MONDO:0015771 "Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported." "Orphanet:1747 ICD10CM:Q92.1 UMLS:CN036006 GARD:0005354 SCTID:764630003 MESH:C537822" MONDO:0013634 "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene." "DOID:0070147 Orphanet:970 UMLS:C3280168 OMIM:614213" -MONDO:0020558 "Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy." "OMIM:607831 Orphanet:99944 NCIT:C133886 UMLS:C1842984 UMLS:C1842983 UMLS:CN207468 SCTID:719512003 GARD:0009199 ICD10:G60.0" -MONDO:0020088 "Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis." "NCIT:C84708 OMIMPS:151660 Orphanet:98306 OMIM:613877 OMIM:604367 MESH:D052496 DOID:0050440 SCTID:49292002 OMIM:151660 ICD10:E88.1 GARD:0011962 UMLS:C0271694 OMIM:615238 OMIM:608600" +MONDO:0020558 "Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy." "OMIM:607831 Orphanet:99944 NCIT:C133886 UMLS:C1842984 ICD10CM:G60.0 UMLS:C1842983 UMLS:CN207468 SCTID:719512003 GARD:0009199" +MONDO:0020088 "Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis." "NCIT:C84708 OMIMPS:151660 Orphanet:98306 OMIM:613877 OMIM:604367 ICD10CM:E88.1 MESH:D052496 DOID:0050440 SCTID:49292002 OMIM:151660 GARD:0011962 UMLS:C0271694 OMIM:615238 OMIM:608600" MONDO:0003641 "A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias." "NCIT:C5503 UMLS:C1332882 DOID:5772" UBERON:0002092 MONDO:0012303 "OMIM:609570" @@ -31577,8 +31558,8 @@ http://identifiers.org/hgnc/26090 MONDO:0010647 "Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene." "DOID:0070185 OMIM:309120 UMLS:C1839841" MONDO:0001704 "A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma." "UMLS:C1519921 NCIT:C40250 DOID:134" http://identifiers.org/hgnc/12309 -MONDO:0008724 "A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\"myopathic\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." "OMIM:201550 Orphanet:2952 ICD10:Q74.8" -MONDO:0020420 "Narrowing of the lumen of the right or left pulmonary artery branch." "NCIT:C99144 UMLS:C2062889 Orphanet:99084 ICD10:Q25.6" +MONDO:0008724 "A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\"myopathic\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." "OMIM:201550 Orphanet:2952 ICD10CM:Q74.8" +MONDO:0020420 "Narrowing of the lumen of the right or left pulmonary artery branch." "NCIT:C99144 UMLS:C2062889 Orphanet:99084" MONDO:0004441 "An embryonal carcinoma that arises from the ovary and occurs in children." "UMLS:C1332989 DOID:8036 NCIT:C6546" MONDO:0014700 "UMLS:CN237748 UMLS:C4225274 Orphanet:453504 OMIM:616580" http://identifiers.org/hgnc/24797 @@ -31590,7 +31571,7 @@ MONDO:0022518 "A syndrome characterized by rapidly progressive sensorineural hea UBERON:0009129 MONDO:0100397 "Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)" "NCIT:C13271" http://identifiers.org/hgnc/6027 -MONDO:0005989 "A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii." "ICD9:130.7 ICD10:B58 EFO:0007517 ICD10:B58.9 UMLS:C0040558 SCTID:187192000 NCIT:C3418 DOID:9965 ICD9:130 ICD9:130.9 MESH:D014123" +MONDO:0005989 "A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii." "ICD10CM:B58 ICD9:130.7 EFO:0007517 UMLS:C0040558 SCTID:187192000 NCIT:C3418 DOID:9965 ICD9:130 ICD9:130.9 MESH:D014123" http://identifiers.org/hgnc/7224 GO:0051350 "Any process that stops or reduces the rate of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond." MONDO:0060760 "OMIM:618089" @@ -31601,7 +31582,7 @@ UBERON:0001996 GO:0050975 "The series of events required for an organism to receive a touch stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. The perception of touch in animals is mediated by mechanoreceptors in the skin and mucous membranes and is the sense by which contact with objects gives evidence as to certain of their qualities. Different types of touch can be perceived (for example, light, coarse, pressure and tickling) and the stimulus may be external or internal (e.g. the feeling of a full stomach)." http://identifiers.org/hgnc/6026 HP:0004338 "Any deviation from the normal concentration of a aromatic amino acid in the blood circulation." "UMLS:C4025352" -MONDO:0014701 "Orphanet:459051 UMLS:C4225273 ICD10:Q77.7 OMIM:616583" +MONDO:0014701 "Orphanet:459051 UMLS:C4225273 OMIM:616583 ICD10CM:Q77.7" GO:0042030 "Binds to and stops, prevents or reduces an ATP hydrolysis activity." NCBITaxon:5809 "GC_ID:1" MONDO:0002886 "A disease involving the common bile duct." "MESH:D003137 UMLS:C0009440 DOID:4137" @@ -31611,8 +31592,8 @@ UBERON:0003292 MONDO:0005228 http://identifiers.org/hgnc/7225 http://identifiers.org/hgnc/13508 -MONDO:0001654 "A malignant neoplasm involving the spermatic cord." "SCTID:363453008 NCIT:C3559 UMLS:C0153603 ICD9:187.6 ICD10:C63.1 DOID:13169" -MONDO:0008746 "Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." "Orphanet:79432 GARD:0004038 ICD10:E70.3 OMIM:203200 MESH:C537730 UMLS:C0268495 DOID:0070096" +MONDO:0001654 "A malignant neoplasm involving the spermatic cord." "NCIT:C3559 SCTID:363453008 UMLS:C0153603 ICD9:187.6 DOID:13169" +MONDO:0008746 "Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." "Orphanet:79432 ICD10CM:E70.3 GARD:0004038 OMIM:203200 MESH:C537730 UMLS:C0268495 DOID:0070096" UBERON:0017659 MONDO:0100461 "A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood." "Orphanet:436252 OMIM:243150" MONDO:0012305 "UMLS:C1835966 MESH:C563695 OMIM:609573 Orphanet:166409" @@ -31620,7 +31601,7 @@ UBERON:0004491 MONDO:0000233 "A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities." "UMLS:C2108396 DOID:0050050" UBERON:0002094 UBERON:0001995 -MONDO:0003406 "Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle." "MESH:D012893 ICD9:307.4 ICD10:G47 ICD9:307.49 EFO:0008568 DOID:535 SCTID:39898005 ICD9:307.40" +MONDO:0003406 "Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle." "MESH:D012893 ICD9:307.4 ICD9:307.49 ICD10CM:G47 EFO:0008568 DOID:535 SCTID:39898005 ICD9:307.40" GO:0005518 "Binding to collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%)." MONDO:0003499 "A squamous cell carcinoma of the skin with a prominent spindle cell component." "UMLS:C0349656 DOID:5536 NCIT:C4666 SCTID:254653005" CL:0000568 "A cell that originates in the neural crest, that has certain cytochemical and ultrastructural characteristics and is found scattered throughout the body; types include melanocytes, the cells of the chromaffin system, and cells in the hypothalamus, hypophysis, thyroid, parathyroids, lungs, gastrointestinal tract, and pancreas. This cell type concentrates the amino acid precursors of certain amines and decarboxylate them, forming amines that function as regulators and neurotransmitters. This cell type produces substances such as epinephrine, norepinephrine, dopamine, serotonin, enkephalin, somatostatin, neurotensin, and substance P, the actions of which may affect contiguous cells, nearby groups of cells, or distant cells, thus functioning as local or systemic hormones. The name is an acronym for amine precursor uptake and decarboxylation cell." "FMA:83114 BTO:0003866" @@ -31633,18 +31614,19 @@ http://identifiers.org/hgnc/7488 MONDO:0002064 "A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces." "UMLS:C1511284 NCIT:C40381 DOID:1637" MONDO:0000815 "A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy." "DOID:0060606" UBERON:0017654 +MONDO:0021059 "OBSOLETE. Any disease or disorder affecting the head and/or neck region." "UMLS:C1333941 ICD10CM:M26-M27 NCIT:C27571" CHEBI:50312 NCIT:C35886 MONDO:0004025 -MONDO:0004659 "A carcinoma in situ involving a eye." "DOID:8792 SCTID:92590009 ICD10:D09.2 UMLS:C0154094 ICD9:234.0" +MONDO:0004659 "A carcinoma in situ involving a eye." "DOID:8792 SCTID:92590009 UMLS:C0154094 ICD9:234.0" MONDO:0021198 "Orphanet:98053 UMLS:CN206953" MONDO:0012306 "OMIM:609578 Orphanet:75249 DOID:0111426 MESH:C566512 UMLS:C1865071" GO:0045616 "Any process that modulates the frequency, rate or extent of keratinocyte differentiation." MONDO:0021497 "A benign neoplasm that involves the telencephalon." "UMLS:C0686378 SCTID:275269004 NCIT:C8548" -MONDO:0006451 "Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential." "GARD:0011952 ONCOTREE:THYC NCIT:C7569 ICDO:8586/3 MedDRA:10061031 DOID:4554 SCTID:444374006 ICD10:C37 UMLS:CN207411 EFO:1000576 Orphanet:99868 DOID:3284 UMLS:C1322286 UMLS:C0205969" +MONDO:0006451 "Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential." "GARD:0011952 ONCOTREE:THYC ICD10CM:C37 NCIT:C7569 ICDO:8586/3 MedDRA:10061031 DOID:4554 SCTID:444374006 UMLS:CN207411 EFO:1000576 Orphanet:99868 DOID:3284 UMLS:C1322286 UMLS:C0205969" GO:0033685 "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of luteinizing hormone." UBERON:0016458 -MONDO:0013978 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene." "UMLS:C1824925 DOID:0110521 OMIM:614934 ICD10:H90.3" +MONDO:0013978 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene." "UMLS:C1824925 DOID:0110521 OMIM:614934" MONDO:0002489 "A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present." "DOID:3016 SCTID:712989008 ONCOTREE:MPT EFO:0008545 MESH:D003557 SCTID:254844000 NCIT:C4504" http://identifiers.org/hgnc/6024 MONDO:0014642 "Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene." "UMLS:C4225324 OMIM:616445" @@ -31652,8 +31634,8 @@ NCBITaxon:2732551 "GC_ID:1" MONDO:0005222 GO:0100025 "OBSOLETE. Any transcription from RNA polymerase II promoter process that negatively regulates cellular amino acid biosynthetic process." HP:0007754 "Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident." "UMLS:C0730292" -MONDO:0019114 "Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype." "Orphanet:71519 ICD10:F44.4 MedDRA:10072376 UMLS:C3267131" -MONDO:0018662 "Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur." "ICD10:Q76.3 OMIM:271530 OMIM:271630 UMLS:CN237725 Orphanet:448242" +MONDO:0019114 "Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype." "Orphanet:71519 MedDRA:10072376 ICD10CM:F44.4 UMLS:C3267131" +MONDO:0018662 "Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur." "OMIM:271530 ICD10CM:Q76.3 OMIM:271630 UMLS:CN237725 Orphanet:448242" http://identifiers.org/hgnc/7489 CHEBI:17334 "Any member of the group of substituted penams containing two methyl substituents at position 2, a carboxylate substituent at position 3 and a carboxamido group at position 6." MONDO:0021197 @@ -31661,7 +31643,7 @@ http://identifiers.org/hgnc/23594 NCBITaxon:693997 "GC_ID:1" GO:0006012 "The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose." GO:0002539 "The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels." -MONDO:0012693 "A glycogen storage disease characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase." "MESH:C566917 OMIM:611556 SCTID:725027004 ICD10:E74.0 GARD:0010760 UMLS:C1969054 Orphanet:137625" +MONDO:0012693 "A glycogen storage disease characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase." "MESH:C566917 OMIM:611556 ICD10CM:E74.0 SCTID:725027004 GARD:0010760 UMLS:C1969054 Orphanet:137625" http://identifiers.org/hgnc/21197 MONDO:0009186 "MESH:C565587 UMLS:C1856931 OMIM:226800" MONDO:0022394 "MEDGEN:60214 SCTID:285636001 GARD:0009244 UMLS:C0206708" @@ -31673,7 +31655,7 @@ http://identifiers.org/hgnc/9882 GO:0003690 "Binding to double-stranded DNA." MONDO:0008821 "OMIM:208081 UMLS:C1859723 MESH:C565940" CHEBI:26348 "A tightly bound, specific nonpolypeptide unit in a protein determining and involved in its biological activity." -MONDO:0007037 "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." "Orphanet:15 SCTID:86268005 GARD:0008173 ICD10:Q77.4 MedDRA:10000452 OMIM:100800 UMLS:C0001080 MESH:D000130 NCIT:C34345 DOID:4480" +MONDO:0007037 "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." "Orphanet:15 SCTID:86268005 GARD:0008173 MedDRA:10000452 OMIM:100800 UMLS:C0001080 MESH:D000130 ICD10CM:Q77.4 NCIT:C34345 DOID:4480" MONDO:0021196 MONDO:0013507 "OMIM:613960 Orphanet:379 DOID:0070194 UMLS:C3151409" MONDO:0024469 "A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma." "NCIT:C4755 UMLS:C0476147" @@ -31682,23 +31664,23 @@ http://identifiers.org/hgnc/25994 UBERON:0010360 MONDO:0004027 NCBITaxon:693996 "GC_ID:1" -MONDO:0001020 "Decreased vision that results from abnormal visual development." "ICD9:368.00 HP:0000646 SCTID:387742006 NCIT:C118764 UMLS:C0002418 DOID:10376 ICD10:H53.00 CSP:1114-9655" -MONDO:0016408 "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth." "Orphanet:226292 ICD10:E03.0 ICD10:E03.1" +MONDO:0001020 "Decreased vision that results from abnormal visual development." "ICD9:368.00 HP:0000646 SCTID:387742006 NCIT:C118764 DOID:10376 UMLS:C0002418 CSP:1114-9655" +MONDO:0016408 "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth." "Orphanet:226292 ICD10CM:E03.0 ICD10CM:E03.1" GO:0004336 "Catalysis of the reaction: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine." MONDO:0045063 "An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues." "NCIT:C5905 UMLS:C1334548" -MONDO:0003630 "A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain." "ICD10:C25.0 ICD10:C25.2 ICD10:C25.1 UMLS:C1335315 DOID:5751 ICD10:C25.8 NCIT:C5724 Orphanet:424073 ICD10:C25.7" +MONDO:0003630 "A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain." "UMLS:C1335315 DOID:5751 NCIT:C5724 Orphanet:424073" MONDO:0100348 "An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems." "OMIM:619091" MONDO:0003790 "An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra." "UMLS:C1514522 DOID:6166 NCIT:C39900" -MONDO:0013912 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene." "UMLS:C3553843 OMIM:614839 ICD10:E23.0 DOID:0090089" +MONDO:0013912 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene." "UMLS:C3553843 OMIM:614839 DOID:0090089" MONDO:0007887 "UMLS:C1835488 Orphanet:1018 OMIM:150700 MESH:C537006 GARD:0010097" UBERON:0002090 GO:1903379 "Any process that modulates the frequency, rate or extent of mitotic chromosome condensation." -MONDO:0010390 "Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome." "Orphanet:1000 GARD:0000592 ICD10:E70.3 OMIM:300650 UMLS:C1845069 SCTID:722054007" +MONDO:0010390 "Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome." "Orphanet:1000 GARD:0000592 ICD10CM:E70.3 OMIM:300650 UMLS:C1845069 SCTID:722054007" GO:0060322 "The biological process whose specific outcome is the progression of a head from an initial condition to its mature state. The head is the anterior-most division of the body." CHEBI:59814 "Conjugate base of an L-alpha-amino acid arising from deprotonation of the C-1 carboxy group." -MONDO:0008182 "Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus." "UMLS:C1868660 OMIM:167730 ICD10:Q10.3 MESH:C538338 SCTID:723411003 GARD:0003927 Orphanet:2399" +MONDO:0008182 "Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus." "UMLS:C1868660 ICD10CM:Q10.3 OMIM:167730 MESH:C538338 SCTID:723411003 GARD:0003927 Orphanet:2399" MONDO:0003506 "A rare choriocarcinoma that arises from a pulmonary artery." "UMLS:C1335571 DOID:5547 NCIT:C5381" -MONDO:0013679 "Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene." "ICD10:M85.2 OMIM:614305 DOID:0060757 UMLS:C3280402 Orphanet:3152" +MONDO:0013679 "Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene." "OMIM:614305 DOID:0060757 UMLS:C3280402 Orphanet:3152" MONDO:0015199 "Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974." "Orphanet:1068 MESH:C536568 UMLS:C2931243 GARD:0005530" GO:0019915 "The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development." MONDO:0008820 @@ -31710,11 +31692,11 @@ HP:0012219 "An erythematous eruption commonly associated with drug reactions or MONDO:0006689 NCBITaxon:693995 "GC_ID:1" MONDO:0006925 "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria." "UMLS:C1258222 EFO:1001126 MESH:D045825" -MONDO:0017350 "An acquired metabolic disease that is has its basis in the disruption of tryptophan metabolic process." "ICD10:E70.8 Orphanet:289829 SCTID:5181007 ICD9:270.2 UMLS:CN203012" +MONDO:0017350 "An acquired metabolic disease that is has its basis in the disruption of tryptophan metabolic process." "ICD10CM:E70.8 Orphanet:289829 SCTID:5181007 ICD9:270.2 UMLS:CN203012" MONDO:0000640 "A neuroectodermal tumor that involves the central nervous system." "DOID:0060103 UMLS:CN201960 NCIT:C5398" MONDO:0700035 "A chromosomal disorder consisting of the absence of one chromosome 8." "NCIT:C36535 MESH:C537823" MONDO:0003947 "A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation." "OMIMPS:308230 SCTID:82286005 ICD9:279.05 MESH:D053306 NCIT:C3990 UMLS:C0272236 DOID:0080544 Wikidata:Q1617658" -MONDO:0019034 "Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen." "GARD:0000454 ICD10:Q45.3 Orphanet:674 SCTID:79037006 MESH:C536003" +MONDO:0019034 "Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen." "GARD:0000454 ICD10CM:Q45.3 Orphanet:674 SCTID:79037006 MESH:C536003" UBERON:0007827 MONDO:0018651 "Orphanet:447795" MONDO:0032819 "OMIM:618573" @@ -31723,27 +31705,27 @@ MONDO:0011363 "MESH:C566342 UMLS:C1863594 OMIM:603694" http://identifiers.org/hgnc/11105 UBERON:0014903 MONDO:0002851 "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum." "DOID:4049 NCIT:C6617 UMLS:C1334677" -MONDO:0019772 "Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia." "MESH:D008538 DOID:3982 ICD10:G24.8 Orphanet:93964 GARD:0007008 SCTID:230325003" +MONDO:0019772 "Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia." "ICD10CM:G24.8 MESH:D008538 DOID:3982 Orphanet:93964 GARD:0007008 SCTID:230325003" CL:1000481 "A transitional myocyte that is part of the atrioventricular bundle." "FMA:83885 FMA:83388" -MONDO:0006238 "An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." "EFO:1000287 ICD10:E22.0 SCTID:254957009 Orphanet:96256 DOID:6255 ICD10:D35.2 NCIT:C7461 EFO:0004125 OMIM:300943 OMIM:102200" +MONDO:0006238 "An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." "EFO:1000287 SCTID:254957009 Orphanet:96256 DOID:6255 NCIT:C7461 EFO:0004125 OMIM:300943 OMIM:102200" SO:0001267 "A gene encoding a small noncoding RNA that participates in the processing or chemical modifications of many RNAs, including ribosomal RNAs and spliceosomal RNAs." -MONDO:0012034 "Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed." "MESH:C564242 DOID:0110304 OMIM:608423 Orphanet:55595 GARD:0012530 SCTID:719989007 ICD10:G71.0" +MONDO:0012034 "Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed." "MESH:C564242 DOID:0110304 OMIM:608423 Orphanet:55595 GARD:0012530 SCTID:719989007 ICD10CM:G71.0" http://identifiers.org/hgnc/3528 MONDO:0012560 "OMIM:610799" HP:0001792 "A nail that is diminished in length and width, i.e., underdeveloped nail." "UMLS:C0263523 SNOMEDCT_US:11375002" -MONDO:0002708 "Inflammation of the retina." "DOID:3612 UMLS:C0035333 SCTID:399463004 ICD10:H30.9 MESH:D012173 NCIT:C115993" +MONDO:0002708 "Inflammation of the retina." "DOID:3612 UMLS:C0035333 SCTID:399463004 MESH:D012173 NCIT:C115993" UBERON:0010362 NBO:0002603 "\"Any process that modulates the frequency, rate or extent of sexual activity, the specific actions or reactions of an organism in response to external or internal stimuli.\" [NBOC:GVG]" http://identifiers.org/hgnc/14963 GO:0043933 "Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex." MONDO:0015058 UBERON:0015001 -MONDO:0019259 "Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." "MedDRA:10034875 UMLS:C0751434 Orphanet:79254 ICD10:E70.0" +MONDO:0019259 "Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." "MedDRA:10034875 UMLS:C0751434 Orphanet:79254" UBERON:0007828 UBERON:0007826 -MONDO:0011362 "MESH:C564377 UMLS:C4518808 Orphanet:178464 SCTID:702373006 Orphanet:34521 UMLS:C1863599 MESH:C566343 OMIM:607569 DOID:0111188 ICD10:G71.0 OMIM:603689 SCTID:733490006 UMLS:C1843633 GARD:0012591" +MONDO:0011362 "MESH:C564377 UMLS:C4518808 Orphanet:178464 SCTID:702373006 Orphanet:34521 UMLS:C1863599 MESH:C566343 OMIM:607569 DOID:0111188 ICD10CM:G71.0 OMIM:603689 SCTID:733490006 UMLS:C1843633 GARD:0012591" MONDO:0018652 "Orphanet:447874" -MONDO:0004952 "Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes." "OMIM:300221 OMIM:236000 Orphanet:98293 MESH:D006689 GARD:0002714 DOID:8651 NCIT:C9357 NCIT:C26956 EFO:0000183 ICD10:C81 ICDO:9650/3 ICD9:201.9 SCTID:118602004 ICD9:201.90 ICD9:201 OMIM:400021 ICD9:201.2 NCIT:C6914 ICD10:C81.9 DOID:8567 ICD9:201.0 ONCOTREE:HL ICD9:201.1" +MONDO:0004952 "Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes." "OMIM:300221 OMIM:236000 Orphanet:98293 MESH:D006689 GARD:0002714 DOID:8651 NCIT:C9357 NCIT:C26956 EFO:0000183 ICDO:9650/3 ICD9:201.9 SCTID:118602004 ICD9:201.90 ICD9:201 OMIM:400021 ICD9:201.2 NCIT:C6914 DOID:8567 ICD9:201.0 ONCOTREE:HL ICD9:201.1" http://identifiers.org/hgnc/11104 UBERON:0009124 MONDO:0014959 "DOID:0080130 UMLS:C4310676 OMIM:617184" @@ -31751,37 +31733,37 @@ MONDO:0024572 "A non-neoplastic or neoplastic disorder that develops in a patien MONDO:0011092 "Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described." "MESH:C537613 OMIM:601477 GARD:0008494 UMLS:C1832273" MONDO:0003870 "An astrocytoma that arises from the brain stem and occurs during childhood." "DOID:6386 NCIT:C6216 UMLS:C1332950" GO:0007585 "The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms." -MONDO:0012332 "Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported." "UMLS:C1864761 OMIM:609698 Orphanet:171706 MESH:C566454 ICD10:E03.1" +MONDO:0012332 "Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported." "UMLS:C1864761 OMIM:609698 Orphanet:171706 ICD10CM:E03.1 MESH:C566454" GO:1903318 "Any process that stops, prevents or reduces the frequency, rate or extent of protein maturation." http://identifiers.org/hgnc/3529 -MONDO:0010132 "A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." "MESH:C564766 OMIM:274800 UMLS:C1848805 OMIM:607200 OMIM:274900 OMIM:274400 Orphanet:95716 OMIM:274500 NCIT:C121751 SCTID:718183003 ICD10:E03.1 OMIM:274700 ICD10:E03.0" +MONDO:0010132 "A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." "ICD10CM:E03.1 ICD10CM:E03.0 MESH:C564766 OMIM:274800 UMLS:C1848805 OMIM:607200 OMIM:274900 OMIM:274400 Orphanet:95716 OMIM:274500 NCIT:C121751 SCTID:718183003 OMIM:274700" MONDO:0032818 "OMIM:618572" -MONDO:0012976 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene." "DOID:0110559 MESH:C567214 OMIM:612644 UMLS:C2675236 ICD10:H90.3" +MONDO:0012976 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene." "DOID:0110559 MESH:C567214 OMIM:612644 UMLS:C2675236" http://identifiers.org/hgnc/30417 UBERON:0013705 MONDO:0014280 "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene." "Orphanet:169160 DOID:0060016 UMLS:C3810147 OMIM:615617" MONDO:0006146 "A hamartoma that is characterized by the presence of chondroid elements." "NCIT:C42589 UMLS:C1707390 EFO:1000175" UBERON:0010363 -MONDO:0004901 "Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." "DOID:9854 UMLS:C0152115 ICD10:G24.4 SCTID:49386006 ICD9:333.82 MESH:D009069" +MONDO:0004901 "Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." "DOID:9854 UMLS:C0152115 SCTID:49386006 ICD9:333.82 MESH:D009069" MONDO:0011764 "Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene." "OMIM:607060 Orphanet:411602 UMLS:C1846862 DOID:0060371" NCBITaxon:418103 "GC_ID:1" -MONDO:0012334 "Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia." "MESH:C536863 SCTID:733029008 ICD10:G11.4 Orphanet:101009 OMIM:609727 DOID:0110780 GARD:0009729 UMLS:C1857855" +MONDO:0012334 "Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia." "MESH:C536863 SCTID:733029008 Orphanet:101009 OMIM:609727 DOID:0110780 ICD10CM:G11.4 GARD:0009729 UMLS:C1857855" http://identifiers.org/hgnc/12303 MONDO:0100409 "Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)" "NCIT:C7600 NCIT:C36415" UBERON:0015002 MONDO:0003154 "A hemangioma arising from the peripheral nerves." "NCIT:C27507 UMLS:C1333956 DOID:482" -MONDO:0013760 "UMLS:C3280856 ICD10:Q80.8 Orphanet:352333 OMIM:614457" +MONDO:0013760 "UMLS:C3280856 Orphanet:352333 OMIM:614457 ICD10CM:Q80.8" http://identifiers.org/hgnc/11103 GO:1900122 "Any process that activates or increases the frequency, rate or extent of a protein or other molecule binding to a receptor." GO:0010817 "Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action." GO:0050890 "The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory." MONDO:0014958 "OMIM:617183 UMLS:C4310677" MONDO:0000654 "A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma." "NCIT:C3377 SCTID:387837005 NCIT:C53684 DOID:0060123" -MONDO:0019599 "Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy)." "ICD10:E88.1 Orphanet:90970" -MONDO:0016254 "ICD10:C54.1 Orphanet:213574 UMLS:CN201043" +MONDO:0019599 "Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy)." "Orphanet:90970 ICD10CM:E88.1" +MONDO:0016254 "ICD10CM:C54.1 Orphanet:213574 UMLS:CN201043" http://identifiers.org/hgnc/22140 MONDO:0005536 "Ulcerative colitis that involves the entire colon." "EFO:0005626" -MONDO:0016370 "Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism." "MESH:D054319 EFO:1001809 ICD10:G37.1 UMLS:C0238265 GARD:0006971 NCIT:C97045 SCTID:386766007 ICD9:341.8 Orphanet:221074 MedDRA:10026828" +MONDO:0016370 "Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism." "MESH:D054319 EFO:1001809 UMLS:C0238265 GARD:0006971 NCIT:C97045 SCTID:386766007 ICD9:341.8 Orphanet:221074 MedDRA:10026828" UBERON:0013704 CL:0000408 "CALOHA:TS-0949 BTO:0001277" MONDO:0019850 @@ -31794,18 +31776,18 @@ GO:0071305 "Any process that results in a change in state or activity of a cell MONDO:0014957 "UMLS:C4310678 OMIM:617182" MONDO:0009178 "MESH:C562637 SCTID:254176007 ICD9:757.39 OMIM:226500" MONDO:0017997 "Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia." "Orphanet:3293 UMLS:CN204205" -MONDO:0010383 "A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities." "ICD10:Q99.2 ICD9:759.83 UMLS:C0016667 OMIM:300624 GARD:0006464 Orphanet:908 SCTID:613003 MedDRA:10017324 NCIT:C84717 MESH:D005600 DOID:14261" +MONDO:0010383 "A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities." "ICD9:759.83 UMLS:C0016667 OMIM:300624 GARD:0006464 Orphanet:908 SCTID:613003 MedDRA:10017324 NCIT:C84717 MESH:D005600 DOID:14261" MONDO:0021280 "A mucoepidermoid carcinoma that involves the parotid gland." "NCIT:C5938 UMLS:C1335363 SCTID:423793008" MONDO:0018650 MONDO:0013761 "OMIM:614458 UMLS:C3280866 Orphanet:293955" GO:1905903 "Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm formation." -MONDO:0006995 "A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence." "ICD9:741 NCIT:C99080 SCTID:249491000119100 DOID:1089 EFO:1001210 ICD9:756.19 ICD10:Q05 ICD10:Q05.9" -MONDO:0009177 "MESH:C535492 UMLS:C1856969 OMIM:226440 ICD10:Q81.8 GARD:0000299 Orphanet:231556" +MONDO:0006995 "A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence." "ICD9:741 NCIT:C99080 SCTID:249491000119100 DOID:1089 EFO:1001210 ICD9:756.19" +MONDO:0009177 "MESH:C535492 UMLS:C1856969 OMIM:226440 GARD:0000299 Orphanet:231556 ICD10CM:Q81.8" http://identifiers.org/hgnc/11102 UBERON:0009122 MONDO:0003254 "A very rare granular cell tumor that arises from the heart." "UMLS:C1332845 NCIT:C5360 DOID:5044" NCBITaxon:2560066 "GC_ID:1" -MONDO:0006670 "Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection." "ICD10:G00.9 ICD9:320 ICD9:320.89 MESH:D016920 MedDRA:10004049 ICD9:320.7 EFO:1000831 GARD:0005881 ICD10:G00 NCIT:C118297 DOID:9470 SCTID:95883001 UMLS:C0085437 ICD9:320.9" +MONDO:0006670 "Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection." "ICD9:320 ICD9:320.89 MESH:D016920 MedDRA:10004049 ICD9:320.7 EFO:1000831 GARD:0005881 NCIT:C118297 DOID:9470 SCTID:95883001 UMLS:C0085437 ICD9:320.9" MONDO:0016253 "Orphanet:213569" MONDO:0060502 "UMLS:C4479631 Orphanet:521426 OMIM:617527" GO:0019363 "The chemical reactions and pathways resulting in the formation of a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base." @@ -31818,7 +31800,7 @@ NCBITaxon:1521262 "PMID:21652310 GC_ID:1" MONDO:0014956 "OMIM:617180 UMLS:C4310679" GO:0035935 "The regulated release of an androgen into the circulatory system. Androgens are steroid hormones that stimulate or control the development and maintenance of masculine characteristics in vertebrates." MONDO:0010166 "UMLS:C1848649 MESH:C564756 OMIM:276822" -MONDO:0014452 "Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen." "Orphanet:98881 SCTID:111589005 ICD9:286.3 ICD10:D68.2 UMLS:CN207171 Orphanet:335 GARD:0002004 Orphanet:248408 NCIT:C131659 UMLS:C1260903 OMIM:616004" +MONDO:0014452 "Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen." "Orphanet:98881 SCTID:111589005 ICD9:286.3 UMLS:CN207171 Orphanet:335 GARD:0002004 Orphanet:248408 ICD10CM:D68.2 NCIT:C131659 UMLS:C1260903 OMIM:616004" http://identifiers.org/hgnc/11109 CHEBI:52255 "A phosphate mineral with the formula Ca5(PO4)3(OH)." MONDO:0043303 "A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds." "MESH:D012001 NCIT:C116366 SCTID:25289003 GARD:0009655" @@ -31827,23 +31809,23 @@ UBERON:0005428 UBERON:0012504 CL:0002209 "An epithelial cell present in the trachea and bronchi; columnar in shape; generally lack cilia; immature forms of ciliated or secretory cells which have been formed from stem cells." "FMA:69060" MONDO:0000970 "A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent." "SCTID:276891009 UMLS:C0349565 NCIT:C4647 ICD9:214.1 DOID:10199" -MONDO:0007614 "ICD10:H49.8 OMIM:609384 OMIM:609612 UMLS:CN043677 OMIM:135700 OMIM:600638 SCTID:400946004 OMIM:616219 GARD:0012590 OMIMPS:135700 Orphanet:45358 UMLS:C1302995 ICD9:728.2 DOID:0080143 OMIM:609428 OMIM:602078" +MONDO:0007614 "OMIM:609384 OMIM:609612 ICD10CM:H49.8 UMLS:CN043677 OMIM:135700 OMIM:600638 SCTID:400946004 OMIM:616219 GARD:0012590 OMIMPS:135700 Orphanet:45358 UMLS:C1302995 ICD9:728.2 DOID:0080143 OMIM:609428 OMIM:602078" CL:0000402 UBERON:0013701 MONDO:0011101 "UMLS:CN168921 Orphanet:44 Orphanet:772 OMIM:601539 UMLS:C0282527" MONDO:0032815 "OMIM:618567" -MONDO:0007891 "Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa." "UMLS:CN201466 SCTID:765195000 ICD10:L81.4 OMIM:151001 UMLS:C3492944 MESH:C573023 Orphanet:231040" +MONDO:0007891 "Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa." "UMLS:CN201466 SCTID:765195000 OMIM:151001 UMLS:C3492944 MESH:C573023 ICD10CM:L81.4 Orphanet:231040" MONDO:0100272 "Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene." UBERON:0010366 UBERON:0013702 MONDO:0003409 "Pathological processes in the colon region of the large intestine (intestine, large)." "UMLS:C0009373 SCTID:128524007 DOID:5353 MESH:D003108" -MONDO:0005692 "Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery." "UMLS:CN205187 NCIT:C84620 MedDRA:10007729 MESH:D002372 UMLS:C0007361 DOID:11258 Orphanet:50839 GARD:0000027 ICD10:A28.1 EFO:0007195 SCTID:79974007 ICD9:078.3" +MONDO:0005692 "Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery." "UMLS:CN205187 NCIT:C84620 MedDRA:10007729 ICD10CM:A28.1 MESH:D002372 UMLS:C0007361 DOID:11258 Orphanet:50839 GARD:0000027 EFO:0007195 SCTID:79974007 ICD9:078.3" MONDO:0034110 "Orphanet:544628" MONDO:0014955 "UMLS:C4310680 OMIM:617175" MONDO:0008819 "UMLS:C1859725 MESH:C565941 OMIM:208060" MONDO:0012564 "GARD:0010456 MESH:C563658 UMLS:C1835818 OMIM:610830" http://identifiers.org/hgnc/7218 -MONDO:0017734 "Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations." "MedDRA:10058800 ICD10:E77.1 Orphanet:309294 SCTID:38795005" +MONDO:0017734 "Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations." "MedDRA:10058800 Orphanet:309294 ICD10CM:E77.1 SCTID:38795005" UBERON:0012503 MONDO:0021053 "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck." "ICDO:8692/1 NCIT:C2932 UMLS:C0007279 GARD:0010598" MONDO:0012584 "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene." "OMIM:610927" @@ -31854,7 +31836,7 @@ HP:0001627 "Any structural anomaly of the heart." "UMLS:C0152021 SNOMEDCT_US:132 UBERON:0013700 MONDO:0011100 "OMIM:601537 MESH:C563296 UMLS:C1832214" UBERON:0011565 -MONDO:0010398 "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene." "Orphanet:776 ICD10:Q87.8 UMLS:C1970822 OMIM:300676 DOID:0060821 MESH:C567063" +MONDO:0010398 "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene." "Orphanet:776 UMLS:C1970822 OMIM:300676 DOID:0060821 MESH:C567063" GO:0006839 "Transport of substances into, out of or within a mitochondrion." UBERON:0010367 MONDO:0015198 "Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986." "SCTID:720987001 Orphanet:1067 GARD:0000689 UMLS:CN226622" @@ -31865,26 +31847,26 @@ MONDO:0013635 "Any Adams-Oliver syndrome in which the cause of the disease is a MONDO:0043007 "An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome." "Orphanet:330197" MONDO:0018557 "OBSOLETE. Rare genetic autonomic nervous system disease." "Orphanet:434786 UMLS:CN237558" MONDO:0060761 "OMIM:618090" -MONDO:0016487 "Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion." "ICD10:D56.1 Orphanet:231222 OMIM:613985 ICD9:282.49 SCTID:191189009 MedDRA:10062923" +MONDO:0016487 "Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion." "Orphanet:231222 OMIM:613985 ICD9:282.49 SCTID:191189009 MedDRA:10062923 ICD10CM:D56.1" http://identifiers.org/hgnc/14966 MONDO:0014954 "OMIM:617174" -MONDO:0017450 "Orphanet:294994 SCTID:205358006 ICD10:Q72.7 HP:0001839" +MONDO:0017450 "Orphanet:294994 SCTID:205358006 HP:0001839" MONDO:0022972 "Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es)." "MESH:C537524 GARD:0008322 SCTID:724136006" MONDO:0021762 "A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine." "GARD:0000483" UBERON:0009125 GO:1901860 "Any process that activates or increases the frequency, rate or extent of mitochondrial DNA metabolic process." -MONDO:0017441 "A congenital malformation in which the upper portion of a limb is either shortened or absent." "ICD10:Q71.1 Orphanet:294975 GARD:0012123 NCIT:C34928 SCTID:22841008" -MONDO:0019437 "Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy." "ICD10:M08.8 GARD:0010969 Orphanet:85438 SCTID:410801005 NCIT:C119024" +MONDO:0017441 "A congenital malformation in which the upper portion of a limb is either shortened or absent." "Orphanet:294975 GARD:0012123 NCIT:C34928 ICD10CM:Q71.1 SCTID:22841008" +MONDO:0019437 "Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy." "GARD:0010969 Orphanet:85438 SCTID:410801005 NCIT:C119024 ICD10CM:M08.8" MONDO:0007616 "MESH:C565011 OMIM:135800 UMLS:C1851099" NCBITaxon:46839 "GC_ID:1" http://identifiers.org/hgnc/15901 -MONDO:0016774 "Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body." "ICD10:L43.8 UMLS:C0406366 GARD:0010816 Orphanet:254463 SCTID:717061002" +MONDO:0016774 "Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body." "UMLS:C0406366 GARD:0010816 ICD10CM:L43.8 Orphanet:254463 SCTID:717061002" http://identifiers.org/hgnc/16266 MONDO:0032817 "DOID:0070346 OMIM:618571" CHEBI:59174 "Any substance capable of eliciting an immune response only when attached to a large carrier such as a protein. Examples include dinitrophenols; oligosaccharides; peptides; and heavy metals." UBERON:0011300 UBERON:0011566 -MONDO:0013308 "CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL." "Orphanet:363972 OMIM:613563 UMLS:C4016301 ICD10:Q87.1 UMLS:C3150803" +MONDO:0013308 "CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL." "Orphanet:363972 OMIM:613563 ICD10CM:Q87.1 UMLS:C4016301 UMLS:C3150803" UBERON:0010368 MONDO:0013685 "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene." "Orphanet:1333 OMIM:614320" MONDO:0006453 "OBSOLETE. An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." @@ -31894,21 +31876,21 @@ MONDO:0010791 "An inborn error of metabolism characterized by abnormal urinary e GO:0002823 "Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata." MONDO:0014604 "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene." "DOID:0111251 OMIM:616361 UMLS:C4225353 Orphanet:411602" GO:0051341 "Any process that modulates the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced." -MONDO:0009931 "Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation." "Orphanet:1208 ICD10:Q22.6 NCIT:C99032 UMLS:C0344975 SCTID:253590009 OMIM:265150 MESH:C562832 GARD:0004600" +MONDO:0009931 "Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation." "Orphanet:1208 NCIT:C99032 UMLS:C0344975 SCTID:253590009 OMIM:265150 MESH:C562832 GARD:0004600 ICD10CM:Q22.6" MONDO:0005215 "A carcinoma that arises from epithelial cells of the mammalian vulva" "UMLS:C0677055 MESH:D014846 NCIT:C4866 DOID:1294 SCTID:447882007 EFO:0002921 DOID:1245 Orphanet:494418" MONDO:0014953 "Orphanet:542306 OMIM:617173 UMLS:C4310682" -MONDO:0004833 "Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related." "MESH:D036981 EFO:1001909 SCTID:202882003 ICD10:M72.2 DOID:9600 UMLS:C0149756" +MONDO:0004833 "Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related." "MESH:D036981 SCTID:202882003 EFO:1001909 DOID:9600 UMLS:C0149756" MONDO:0012566 "OMIM:610836" http://identifiers.org/hgnc/7216 -MONDO:0018142 "Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." "Orphanet:353314 OMIM:266150 ICD10:E74.4 UMLS:CN204539" +MONDO:0018142 "Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." "Orphanet:353314 ICD10CM:E74.4 OMIM:266150 UMLS:CN204539" MONDO:0012300 "UMLS:C1836005 MESH:C563699 OMIM:609558" MONDO:0000492 "Chronic form of venous insufficiency (disease)." "UMLS:C1306557 EFO:0007940 DOID:0050853" PATO:0070026 "A cell morphology that inheres in neurons which possess a single axon and many dendrites and dendritic branches." http://identifiers.org/hgnc/9879 UBERON:0009126 -MONDO:0001701 "An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite." "SCTID:111798006 DOID:13386 UMLS:C0152945 MESH:C571911 ICD9:022.2 ICD10:A22.2" -MONDO:0018005 "Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported." "UMLS:CN204217 ICD10:G11.4 Orphanet:329475" -MONDO:0005615 "Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations." "NCIT:C9349 MedDRA:10035484 UMLS:C0032131 ICDO:9731/3 ICD9:238.6 ICD10:C90.2 Orphanet:86855 EFO:0006738 ICD10:C90.30 GARD:0007404 DOID:3721 ICD10:C90.3 MESH:D010954 SCTID:415112005" +MONDO:0001701 "An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite." "SCTID:111798006 DOID:13386 UMLS:C0152945 ICD10CM:A22.2 MESH:C571911 ICD9:022.2" +MONDO:0018005 "Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported." "UMLS:CN204217 ICD10CM:G11.4 Orphanet:329475" +MONDO:0005615 "Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations." "ICD10CM:C90.3 NCIT:C9349 MedDRA:10035484 UMLS:C0032131 ICDO:9731/3 ICD9:238.6 Orphanet:86855 EFO:0006738 GARD:0007404 DOID:3721 MESH:D010954 ICD10CM:C90.2 SCTID:415112005" MONDO:0027026 "A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region." "MESH:D062688 UMLS:C0276264 NCIT:C6371 SCTID:402910001 GARD:0009663" HP:0001907 "The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site." "SNOMEDCT_US:13713005 UMLS:C0040038 MSH:D013923 SNOMEDCT_US:371039008 MSH:D016769 UMLS:C0085307" MONDO:0021125 "An attribute of a disease." "NCIT:C41009" @@ -31916,20 +31898,20 @@ http://identifiers.org/hgnc/13503 GO:0015067 "Catalysis of the reversible transfer of an amidino group to an acceptor." http://identifiers.org/hgnc/18662 MONDO:0060764 "OMIM:273395" -MONDO:0011669 "A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." "UMLS:CN226952 EFO:0007550 MESH:C564710 DOID:0060858 Orphanet:163690 SCTID:721173005 ICD10:E72.0 Orphanet:238517 Orphanet:163693 OMIM:606407 Orphanet:238523" -MONDO:0013446 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene." "HGNC:13436 ICD10:H35.5 DOID:0110329 MESH:C565327 OMIM:613826 GARD:0010490" +MONDO:0011669 "A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." "SCTID:721173005 UMLS:CN226952 ICD10CM:E72.0 MESH:C564710 Orphanet:238517 OMIM:606407 Orphanet:163693 Orphanet:163690 DOID:0060858 EFO:0007550 Orphanet:238523" +MONDO:0013446 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene." "HGNC:13436 DOID:0110329 MESH:C565327 OMIM:613826 GARD:0010490" http://identifiers.org/hgnc/6018 -MONDO:0006654 "A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners." "EFO:1000814 MESH:D055008 ICD10:J60 DOID:10327 NCIT:C34390 SCTID:29422001 UMLS:C0003165 MedDRA:10073051 ICD9:500" +MONDO:0006654 "A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners." "EFO:1000814 MESH:D055008 DOID:10327 NCIT:C34390 SCTID:29422001 UMLS:C0003165 MedDRA:10073051 ICD9:500" MONDO:0013904 "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene." "OMIM:614830 UMLS:C3553813 Orphanet:899 DOID:0111231" MONDO:0032816 "OMIM:618569" -MONDO:0016369 "Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." "UMLS:CN201234 Orphanet:221016 ICD10:Q82.8 OMIM:268400" +MONDO:0016369 "Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." "UMLS:CN201234 ICD10CM:Q82.8 Orphanet:221016 OMIM:268400" CP:0000043 "Heterochromatin that is arranged in a carthwheel pattern." MONDO:0011537 "An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23." "Orphanet:210548 MESH:C565342 DOID:0060867 OMIM:605309 UMLS:C1854416" CL:0000467 "A peptide hormone secreting cell that produces adrenocorticotropin, or corticotropin." -MONDO:0006043 "A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells." "ONCOTREE:MBC ICD10:C50.4 ICD10:C50.5 EFO:1000040 ICD10:C50.2 GARD:0010804 UMLS:C1334708 ICD10:C50.8 ICD10:C50.3 NCIT:C5164 ICD10:C50.6 SCTID:763479005 Orphanet:213531 ICD10:C50.0 DOID:4680 ICD10:C50.1" +MONDO:0006043 "A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells." "ONCOTREE:MBC ICD10CM:C50.5 ICD10CM:C50.0 ICD10CM:C50.6 EFO:1000040 GARD:0010804 UMLS:C1334708 ICD10CM:C50.4 ICD10CM:C50.8 NCIT:C5164 ICD10CM:C50.3 ICD10CM:C50.1 SCTID:763479005 Orphanet:213531 ICD10CM:C50.2 DOID:4680" MONDO:0013677 "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene." "OMIM:614302 UMLS:C3553060 DOID:0070252 Orphanet:98853 Orphanet:261" MONDO:0005652 "Infections caused by viruses of the family arteriviridae." "UMLS:C0206604 EFO:0007152 MESH:D018174" -MONDO:0004924 "Chronic form of actinomycosis." "UMLS:C0155240 ICD10:H04.42 DOID:9936 ICD9:375.41 SCTID:26479009" +MONDO:0004924 "Chronic form of actinomycosis." "UMLS:C0155240 DOID:9936 ICD9:375.41 SCTID:26479009" MONDO:0012567 "OMIM:610838" MONDO:0043275 "A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly." "GARD:0007781 SCTID:41679006 UMLS:C0270173 NCIT:C98609" MONDO:0044719 "A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area." "NCIT:C3385 Orphanet:502499" @@ -31940,7 +31922,7 @@ http://identifiers.org/hgnc/7217 CHEBI:33252 "A nucleus is the positively charged central portion of an atom, excluding the orbital electrons." UBERON:0007829 MONDO:0006098 "Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast." "ICD9:610.8 NCIT:C4730 EFO:1000100 SCTID:450697004" -MONDO:0009209 "Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." "ICD10:Q87.8 Orphanet:1974 OMIM:227330" +MONDO:0009209 "Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." "ICD10CM:Q87.8 Orphanet:1974 OMIM:227330" HP:0002921 "An abnormality of the cerebrospinal fluid (CSF)." "UMLS:C0151583" UBERON:0005424 GO:0022857 "Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other." @@ -31951,11 +31933,11 @@ CHEBI:26873 "Any isoprenoid that is a natural product or related compound formal http://identifiers.org/hgnc/11363 GO:0051495 "Any process that activates or increases the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures." GO:0006414 "The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis." -MONDO:0003082 "UMLS:C0155077 ICD10:H16.12 SCTID:51286002 DOID:4664 ICD9:370.23" +MONDO:0003082 "UMLS:C0155077 SCTID:51286002 DOID:4664 ICD9:370.23" MONDO:0002983 -MONDO:0009591 "Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes." "GARD:0004545 Orphanet:309263 OMIM:250100 GARD:0003230 Orphanet:512 ICD10:E75.2 UMLS:C0023522 SCTID:238031009" -MONDO:0013016 "Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder." "Orphanet:2968 UMLS:C2748536 Orphanet:99844 ICD10:D84.8 MESH:C567555 OMIM:612840 DOID:0110912" -MONDO:0020096 "Autosomal recessive form of isolated diffuse palmoplantar keratoderma." "ICD10:Q82.8 Orphanet:98356 UMLS:CN229269" +MONDO:0009591 "Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes." "GARD:0004545 Orphanet:309263 OMIM:250100 ICD10CM:E75.2 GARD:0003230 Orphanet:512 UMLS:C0023522 SCTID:238031009" +MONDO:0013016 "Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder." "UMLS:C2748536 Orphanet:99844 DOID:0110912 OMIM:612840 Orphanet:2968 ICD10CM:D84.8 MESH:C567555" +MONDO:0020096 "Autosomal recessive form of isolated diffuse palmoplantar keratoderma." "Orphanet:98356 UMLS:CN229269 ICD10CM:Q82.8" MONDO:0032810 "OMIM:618550" HP:0011996 "Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex." "UMLS:C4021106" UBERON:0004226 @@ -31968,20 +31950,20 @@ MONDO:0003211 "A carcinoma that arises from glandular epithelial cells of the na UBERON:0005425 http://identifiers.org/hgnc/11362 NCBITaxon:436486 "GC_ID:1" -MONDO:0024538 "UMLS:C0393590 Orphanet:1980 OMIM:213600 NCIT:C129973" +MONDO:0024538 "UMLS:C1847731 UMLS:C0393590 OMIM:606656 Orphanet:1980 MESH:C537657 OMIM:213600 NCIT:C129973" NCBITaxon:2697495 "GC_ID:1" MONDO:0020669 "A primary or metastatic malignant neoplasm involving the paranasal sinuses." "NCIT:C7487" UBERON:0004227 NCBITaxon:121791 "GC_ID:1" -MONDO:0010281 "Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit." "UMLS:C0878677 ICD9:759.89 EFO:1001333 Orphanet:34587 OMIM:300257 SCTID:419097006 NCIT:C84735 GARD:0009730 ICD10:E74.0 DOID:0050437 MESH:D052120" +MONDO:0010281 "Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit." "UMLS:C0878677 ICD9:759.89 EFO:1001333 ICD10CM:E74.0 Orphanet:34587 OMIM:300257 SCTID:419097006 NCIT:C84735 GARD:0009730 DOID:0050437 MESH:D052120" MONDO:0003690 "An anaplastic ependymoma occurring in adults." "NCIT:C8269 UMLS:C0280787 DOID:5890" -MONDO:0015686 "Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma." "ICD10:C48.2 HP:0030406 UMLS:CN200184 NCIT:C40022 Orphanet:168829" +MONDO:0015686 "Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma." "ICD10CM:C48.2 HP:0030406 UMLS:CN200184 NCIT:C40022 Orphanet:168829" http://identifiers.org/hgnc/1389 GO:1901717 "Any process that activates or increases the frequency, rate or extent of gamma-aminobutyric acid catabolic process." NCBITaxon:106178 "GC_ID:11" -MONDO:0001786 "ICD10:N71.9 SCTID:28783002 ICD9:615.9 UMLS:C0269047 DOID:13736" +MONDO:0001786 "SCTID:28783002 ICD9:615.9 UMLS:C0269047 DOID:13736" CL:0002460 "A conventional thymic dendritic cell that is CD8alpha-negative." -MONDO:0012974 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3." "OMIM:612642 MESH:C567216 ICD10:H90.3 UMLS:C2675238 DOID:0110583" +MONDO:0012974 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3." "OMIM:612642 MESH:C567216 UMLS:C2675238 DOID:0110583" MONDO:0029001 "OBSOLETE. Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides." "MESH:D064419" UBERON:0005426 MONDO:0000395 "A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy." "NCIT:C92727 UMLS:C3146244 DOID:0050668" @@ -31995,12 +31977,12 @@ GO:0019210 "Binds to and stops, prevents or reduces the activity of a kinase." http://identifiers.org/hgnc/26938 UBERON:0004228 MONDO:0002127 "Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms." "MESH:D014525 ICD9:598.8 SCTID:76618002 DOID:1829 ICD9:598.9 UMLS:C0041974 HP:0012227" -MONDO:0008039 "Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection." "OMIM:159580 DOID:321 ICD10:G04.1 GARD:0008208 SCTID:714279000 EFO:0007527 ICD9:323.01 MedDRA:10044696 UMLS:C0030481 Orphanet:289326 MESH:D015493" +MONDO:0008039 "Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection." "OMIM:159580 DOID:321 GARD:0008208 SCTID:714279000 EFO:0007527 ICD9:323.01 MedDRA:10044696 UMLS:C0030481 Orphanet:289326 MESH:D015493" MONDO:0003080 MONDO:0003673 "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart." "NCIT:C36073 DOID:5848" GO:0051967 "Any process that stops, prevents, or reduces the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate." MONDO:0021456 "A benign neoplasm that involves the sternum." "SCTID:92410006 UMLS:C0347312 NCIT:C8416" -MONDO:0017459 "ICD10:Q69.2 Orphanet:295010 SCTID:253967005" +MONDO:0017459 "ICD10CM:Q69.2 Orphanet:295010 SCTID:253967005" GO:0010646 "Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment." MONDO:0044219 "OBSOLETE. The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)})." "OMIM:110700" NCBITaxon:39759 "GC_ID:1" @@ -32013,7 +31995,7 @@ http://identifiers.org/hgnc/2323 http://identifiers.org/hgnc/29433 MONDO:0032812 "OMIM:618557" CHEBI:16733 -MONDO:0020275 "Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism." "ICD10:E70.3 Orphanet:98706" +MONDO:0020275 "Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism." "ICD10CM:E70.3 Orphanet:98706" MONDO:0000585 GO:0043588 "The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue." MONDO:0018955 "Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive." "ICD9:078.19 SCTID:472827002 UMLS:C1168198 NCIT:C128637 MESH:C535297 GARD:0000111 MedDRA:10059314 Orphanet:60032" @@ -32023,34 +32005,34 @@ MONDO:0021515 "A benign neoplasm that involves the ethmoid sinus." "SCTID:920930 MONDO:0001784 "DOID:13730" UBERON:0001729 UBERON:0007823 -MONDO:0002052 "Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process." "HP:0002840 NCIT:C26821 ICD10:I88.1 ICD10:L04 DOID:1602 ICD9:289.1 UMLS:C0157705 SCTID:41174002 ICD10:I88.9 UMLS:C0154304 ICD10:L04.9 MESH:D008199 UMLS:C0024205 ICD9:683" +MONDO:0002052 "Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process." "HP:0002840 NCIT:C26821 DOID:1602 ICD9:289.1 UMLS:C0157705 SCTID:41174002 UMLS:C0154304 MESH:D008199 UMLS:C0024205 ICD9:683" UBERON:0005686 -MONDO:0018655 "OMIM:607694 UMLS:CN237713 Orphanet:447893 ICD10:E75.2" -MONDO:0001563 "A disease involving the vestibulocochlear nerve." "NCIT:C27207 MESH:D000160 SCTID:77949003 UMLS:C0001163 ICD10:H93.3 ICD9:388.5 ICD10:H93.3X DOID:12657" +MONDO:0018655 "OMIM:607694 ICD10CM:E75.2 UMLS:CN237713 Orphanet:447893" +MONDO:0001563 "A disease involving the vestibulocochlear nerve." "NCIT:C27207 MESH:D000160 SCTID:77949003 UMLS:C0001163 ICD9:388.5 DOID:12657" http://identifiers.org/hgnc/11367 MONDO:0012080 "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene." "DOID:0111207 MESH:C567084 Orphanet:139525 OMIM:608634 UMLS:C2608087" UBERON:0005420 MONDO:0000591 "A cardiomyopathy that is due to abnormalities in heart muscle cells." "DOID:0060036" -MONDO:0010877 "Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity." "SCTID:76043009 UMLS:CN074211 Orphanet:64751 ICD10:G60.0 DOID:0080067 OMIM:600361 GARD:0009208" +MONDO:0010877 "Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity." "SCTID:76043009 ICD10CM:G60.0 UMLS:CN074211 Orphanet:64751 DOID:0080067 OMIM:600361 GARD:0009208" RO:0002310 "A process occurring within or in the vicinity of an organism that exerts some causal influence on the organism via the interaction between an exposure stimulus and an exposure receptor. The exposure stimulus may be a process, material entity or condition (for example, lack of nutrients). The exposure receptor can be an organism, organism population or a part of an organism." UBERON:0004488 NCBITaxon:137207 "GC_ID:1" -MONDO:0000740 "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing." "UMLS:C0149825 SCTID:111591002 ICD10:J35.2 ICD9:474.12 MedDRA:10001229 DOID:0060311" +MONDO:0000740 "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing." "UMLS:C0149825 SCTID:111591002 ICD9:474.12 MedDRA:10001229 DOID:0060311" CL:1000453 "An epithelial cell that is part of the intermediate tubule." "FMA:70980" MONDO:0040677 "A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma." "UMLS:C1334274 NCIT:C9480" -MONDO:0017457 "GARD:0012771 Orphanet:295006 ICD10:Q69.2 SCTID:205132000" +MONDO:0017457 "GARD:0012771 Orphanet:295006 ICD10CM:Q69.2 SCTID:205132000" UBERON:0004222 GO:0008217 "Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure." GO:0060537 "The progression of muscle tissue over time, from its initial formation to its mature state. Muscle tissue is a contractile tissue made up of actin and myosin fibers." -MONDO:0005913 "Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii." "UMLS:C0030372 ICD10:A93.1 SCTID:407476002 EFO:0007437 MESH:D010217 DOID:11360 ICD9:066.0" +MONDO:0005913 "Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii." "UMLS:C0030372 ICD10CM:A93.1 SCTID:407476002 EFO:0007437 MESH:D010217 DOID:11360 ICD9:066.0" UBERON:0001728 MONDO:0000583 "MESH:C567200 DOID:0060026 UMLS:C3502055" -MONDO:0009192 "Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." "SCTID:254066006 DOID:0090060 MESH:C536739 ICD10:E13 Orphanet:1667 OMIM:226980 NCIT:C131007 UMLS:C0432217 GARD:0005589" +MONDO:0009192 "Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure." "MESH:C536739 ICD10CM:E13 DOID:0090060 OMIM:226980 SCTID:254066006 NCIT:C131007 UMLS:C0432217 GARD:0005589 Orphanet:1667" GO:0006662 "The chemical reactions and pathways involving glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol." MONDO:0045022 "A disease that has its basis in the disruption of organic acid metabolic process." "ICD9:277.89 SCTID:116021002" CHEBI:38182 "A hydroxypyridine carrying a single hydroxy substituent." UBERON:0005687 -MONDO:0018656 "ICD10:E75.2 Orphanet:447896 UMLS:CN237714 OMIM:607694" +MONDO:0018656 "Orphanet:447896 UMLS:CN237714 OMIM:607694 ICD10CM:E75.2" NCBITaxon:5811 "GC_ID:1" http://identifiers.org/hgnc/11100 UBERON:0005421 @@ -32061,11 +32043,11 @@ GO:0042816 "The chemical reactions and pathways involving any of the vitamin B6 UBERON:0004223 NCBITaxon:1279 "PMID:10319469 PMID:10319495 PMID:10758876 GC_ID:11 PMID:10425778 PMID:12656157 PMID:9734063 PMID:17220435" UBERON:0008188 -MONDO:0017458 "GARD:0012770 SCTID:205133005 ICD10:Q69.2 Orphanet:295008" +MONDO:0017458 "GARD:0012770 SCTID:205133005 Orphanet:295008 ICD10CM:Q69.2" http://identifiers.org/hgnc/12565 -MONDO:0007165 "Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present." "SCTID:763669001 MESH:C566247 Orphanet:1182 ICD10:G11.4 DOID:0050945 OMIM:108650 UMLS:C1862441" +MONDO:0007165 "Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present." "SCTID:763669001 MESH:C566247 Orphanet:1182 ICD10CM:G11.4 DOID:0050945 OMIM:108650 UMLS:C1862441" MONDO:0002980 -MONDO:0006945 "Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular)." "UMLS:C0035066 ICD10:N28.0 MESH:D012078 DOID:2972 EFO:1001150" +MONDO:0006945 "Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular)." "UMLS:C0035066 MESH:D012078 DOID:2972 EFO:1001150" MONDO:0015898 "Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children." "SCTID:267395000 Orphanet:181412 MedDRA:10061630 UMLS:C0701163 UMLS:CN200506 MESH:D047808 UMLS:C0302280 ICD9:255.2" MONDO:0060507 "UMLS:C4479651 OMIM:617547" HP:0002334 "An anomaly of the vermis of cerebellum." "UMLS:C4025712" @@ -32073,7 +32055,7 @@ GO:0034308 "The chemical reactions and pathways involving primary alcohols. A pr MONDO:0011112 "Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene." "MESH:C536707 GARD:0005578 OMIM:601583 Orphanet:654" MONDO:0000582 MONDO:0011361 "OMIM:603688" -MONDO:0018653 "NCIT:C162484 OMIM:615083 ICD10:D12.6 Orphanet:447877 OMIM:612591" +MONDO:0018653 "NCIT:C162484 OMIM:615083 Orphanet:447877 ICD10CM:D12.6 OMIM:612591" MONDO:0003352 "A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma." "UMLS:C1333098 DOID:5260 NCIT:C5495" UBERON:0005422 UBERON:0005688 @@ -32091,7 +32073,7 @@ NCBITaxon:7371 "GC_ID:1" MONDO:0021637 "A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma." "UMLS:C1997217 NCIT:C132067" GO:0071345 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus." MONDO:0002845 "A variant of phlegmonous gastritis, typically progressing to gastric gangrene." "UMLS:C0877152 DOID:4037 NCIT:C27329" -MONDO:0019321 "A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." "GARD:0011910 UMLS:CN205977 ICD10:E34.8 SCTID:715633008 Orphanet:79474 UMLS:C4275075" +MONDO:0019321 "A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." "ICD10CM:E34.8 GARD:0011910 UMLS:CN205977 SCTID:715633008 Orphanet:79474 UMLS:C4275075" GO:1902338 "Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in morphogenesis." CHEBI:18291 GO:1903019 "Any process that stops, prevents or reduces the frequency, rate or extent of glycoprotein metabolic process." @@ -32104,22 +32086,22 @@ UBERON:0005689 MONDO:0016257 http://identifiers.org/hgnc/11364 NCBITaxon:640628 "GC_ID:1" -MONDO:0014310 "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features." "ICD10:Q82.8 UMLS:C3810325 GARD:0013218 OMIM:615704 Orphanet:221043" -MONDO:0008879 "Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." "OMIM:211180 MESH:C537081 ICD10:Q87.8 UMLS:C1859405 DOID:0050684 SCTID:711153001 GARD:0005950 Orphanet:1270 ICD9:759.89" +MONDO:0014310 "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features." "ICD10CM:Q82.8 UMLS:C3810325 GARD:0013218 OMIM:615704 Orphanet:221043" +MONDO:0008879 "Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." "OMIM:211180 MESH:C537081 UMLS:C1859405 DOID:0050684 SCTID:711153001 ICD10CM:Q87.8 GARD:0005950 Orphanet:1270 ICD9:759.89" GO:0018958 "The chemical reactions and pathways involving a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring." MONDO:0012282 "An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality." "OMIM:609465 Orphanet:2725 MESH:C536817 GARD:0010054 UMLS:C1836121" GO:0009110 "The chemical reactions and pathways resulting in the formation of a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body." http://identifiers.org/hgnc/3527 -MONDO:0019643 "Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants." "ICD10:N15.8 Orphanet:93164 UMLS:CN776908 SCTID:717263009 UMLS:C4273962" +MONDO:0019643 "Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants." "Orphanet:93164 UMLS:CN776908 SCTID:717263009 ICD10CM:N15.8 UMLS:C4273962" UBERON:0002928 HP:0002103 "An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls." "UMLS:C4025726" UBERON:0004225 MONDO:0013612 "Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene." "Orphanet:2623 UMLS:C3280054 OMIM:614185 DOID:0111726" HP:0000525 "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil." "UMLS:C4025845" -MONDO:0007959 "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." "UMLS:C0025149 Orphanet:251867 DOID:0050902 UMLS:C0751291 Orphanet:616 DOID:0060104 NCIT:C3222 ICDO:9470/3 MESH:D008527 ONCOTREE:MBL ICD10:C71.6 Orphanet:251863 MedDRA:10027107 Orphanet:251858 OMIM:155255 UMLS:C1334970 EFO:0002939 UMLS:C1334410 SCTID:443333004 GARD:0007005" -MONDO:0017456 "SCTID:205130008 ICD10:Q69.0 Orphanet:295004 GARD:0012769" +MONDO:0007959 "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity." "UMLS:C0025149 Orphanet:251867 DOID:0050902 UMLS:C0751291 Orphanet:616 DOID:0060104 NCIT:C3222 ICDO:9470/3 MESH:D008527 ONCOTREE:MBL Orphanet:251863 ICD10CM:C71.6 MedDRA:10027107 Orphanet:251858 OMIM:155255 UMLS:C1334970 EFO:0002939 UMLS:C1334410 SCTID:443333004 GARD:0007005" +MONDO:0017456 "SCTID:205130008 ICD10CM:Q69.0 Orphanet:295004 GARD:0012769" http://identifiers.org/hgnc/12563 -MONDO:0011936 "Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development." "SCTID:721878003 GARD:0003645 UMLS:C4303070 Orphanet:139471 MESH:C566440 UMLS:C1864689 ICD10:Q11.2 OMIM:607932" +MONDO:0011936 "Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development." "SCTID:721878003 GARD:0003645 UMLS:C4303070 Orphanet:139471 MESH:C566440 UMLS:C1864689 ICD10CM:Q11.2 OMIM:607932" http://identifiers.org/hgnc/19857 http://identifiers.org/hgnc/2328 GO:0030203 "The chemical reactions and pathways involving glycosaminoglycans, any one of a group of polysaccharides that contain amino sugars. Formerly known as mucopolysaccharides, they include hyaluronic acid and chondroitin, which provide lubrication in joints and form part of the matrix of cartilage. The three-dimensional structure of these molecules enables them to trap water, which forms a gel and gives glycosaminoglycans their elastic properties." @@ -32138,13 +32120,13 @@ MONDO:0002973 "A melanoma characterized by the presence of malignant large epith MONDO:0006514 "Moderate to severe atopic dermatitis with allergic sensitisation." "PMID:25935106 EFO:1000651" UBERON:0002089 ENVO:00002017 "A rock formed by subjecting any rock type (including previously-formed metamorphic rock) to different temperature and pressure conditions than those in which the original rock was formed. These temperatures and pressures are always higher than those at the Earth's surface and must be sufficiently high so as to change the original minerals into other mineral types or else into other forms of the same minerals (e.g. by recrystallisation)." -MONDO:0006996 "Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone." "ICD10:E05.5 HP:0011782 ICD9:242.81 MedDRA:10043705 UMLS:C0040127 EFO:1001212 ICD9:242.91 NCIT:C112836 MESH:D013958 SCTID:29028009 DOID:12837" -MONDO:0012665 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene." "DOID:0110264 Orphanet:217052 OMIM:611391 Orphanet:217046 UMLS:C3808107 ICD10:Q12.0 MESH:C566955" +MONDO:0006996 "Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone." "HP:0011782 ICD9:242.81 MedDRA:10043705 UMLS:C0040127 EFO:1001212 ICD9:242.91 NCIT:C112836 MESH:D013958 SCTID:29028009 DOID:12837" +MONDO:0012665 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene." "DOID:0110264 Orphanet:217052 OMIM:611391 Orphanet:217046 UMLS:C3808107 MESH:C566955" HP:0003117 "An abnormal concentration of a hormone in the blood." "UMLS:C4025652" GO:0003016 "A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange." -MONDO:0015363 "Autosomal recessive form of distal hereditary motor neuropathy." "UMLS:CN228931 DOID:0111197 ICD10:G12.2 Orphanet:140468" +MONDO:0015363 "Autosomal recessive form of distal hereditary motor neuropathy." "ICD10CM:G12.2 UMLS:CN228931 DOID:0111197 Orphanet:140468" MONDO:0004299 "NCIT:C39821 UMLS:C1512736 DOID:7600 EFO:1000302" -MONDO:0014719 "OMIM:616647 DOID:0080458 UMLS:C4225256 ICD10:G40.4 Orphanet:457375" +MONDO:0014719 "OMIM:616647 DOID:0080458 ICD10CM:G40.4 UMLS:C4225256 Orphanet:457375" GO:0046930 "A protein complex providing a discrete opening in a membrane that allows the passage of gases and/or liquids." HP:0002227 "White color (lack of pigmentation) of the eyelashes." "UMLS:C4280578 UMLS:C1836736" http://identifiers.org/hgnc/24526 @@ -32153,13 +32135,13 @@ UBERON:0001724 MONDO:0006582 "A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The colour is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot." "SCTID:40467008 MESH:D049328 DOID:4702 UMLS:C0265985 EFO:1000736 Wikipedia:Mongolian_spot NCIT:C3945" UBERON:0002921 NCBITaxon:6179 "GC_ID:1" -MONDO:0018116 "Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form." "UMLS:C0016952 DOID:9870 OMIM:230200 ICD9:271.1 OMIM:230400 OMIMPS:230400 Orphanet:352 MESH:D005693 NCIT:C84723 ICD10:E74.2 OMIM:230350 ICD10:E74.21 SCTID:190745006 GARD:0002424 MedDRA:10017604" -MONDO:0004582 "Inflammation of the myocardium in acute rheumatic heart disease." "DOID:8481 ICD10:M05.3 NCIT:C35202 ICD10:I01.9 ICD10:I09.0 UMLS:C0155557 ICD9:391.9 SCTID:195136004 ICD9:398.0" +MONDO:0018116 "Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form." "UMLS:C0016952 DOID:9870 OMIM:230200 ICD9:271.1 ICD10CM:E74.2 OMIM:230400 OMIMPS:230400 Orphanet:352 MESH:D005693 NCIT:C84723 OMIM:230350 SCTID:190745006 GARD:0002424 MedDRA:10017604" +MONDO:0004582 "Inflammation of the myocardium in acute rheumatic heart disease." "DOID:8481 NCIT:C35202 UMLS:C0155557 ICD9:391.9 SCTID:195136004 ICD9:398.0" MONDO:0006695 http://identifiers.org/hgnc/7473 -MONDO:0019839 "Orphanet:95513 ICD10:E23.6" +MONDO:0019839 "Orphanet:95513 ICD10CM:E23.6" MONDO:0010654 "A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person." "Orphanet:94083 GARD:0004235 DOID:14744 OMIM:309510" -MONDO:0018433 "Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported." "Orphanet:402014 ICD10:C92.0" +MONDO:0018433 "Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported." "Orphanet:402014 ICD10CM:C92.0" ENVO:01000266 "Water vapour is a vapour which is the gas phase of water." UBERON:0001727 CL:1000272 @@ -32175,13 +32157,13 @@ CL:0007009 "Skeletogenic cell that has the potential to develop into a chondrobl UBERON:0002925 UBERON:0004220 MONDO:0021188 -MONDO:0020305 "Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia." "Orphanet:98798 ICD10:Q98.6" -MONDO:0009189 "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." "Orphanet:93307 OMIM:226900 GARD:0009793 SCTID:715672007 DOID:0070300 MESH:C535504 UMLS:C1847593 ICD10:Q77.3" +MONDO:0020305 "Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia." "Orphanet:98798 ICD10CM:Q98.6" +MONDO:0009189 "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum." "Orphanet:93307 OMIM:226900 GARD:0009793 SCTID:715672007 DOID:0070300 ICD10CM:Q77.3 MESH:C535504 UMLS:C1847593" UBERON:0003288 HP:0000939 "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD)." "SNOMEDCT_US:64859006 UMLS:C0029456 MSH:D010024" -MONDO:0007476 "Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared)." "SCTID:274142002 GARD:0012165 Orphanet:79142 ICD10:M72.0 OMIM:126900" -MONDO:0007895 "DOID:0111508 GARD:0004382 OMIM:151210 Orphanet:85166 ICD10:Q77.8 UMLS:C1835437 MESH:C563627" -MONDO:0021022 "Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." "ICD10:G25.8 OMIM:614619 OMIM:149400 OMIM:614618 GARD:0003129 Orphanet:3197 SCTID:724351008 OMIMPS:149400 DOID:0060695" +MONDO:0007476 "Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared)." "ICD10CM:M72.0 SCTID:274142002 GARD:0012165 Orphanet:79142 OMIM:126900" +MONDO:0007895 "DOID:0111508 GARD:0004382 OMIM:151210 Orphanet:85166 ICD10CM:Q77.8 UMLS:C1835437 MESH:C563627" +MONDO:0021022 "Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." "OMIM:614619 OMIM:149400 OMIM:614618 ICD10CM:G25.8 GARD:0003129 Orphanet:3197 SCTID:724351008 OMIMPS:149400 DOID:0060695" UBERON:0001726 UBERON:0005685 CHEBI:33229 "A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term \"vitamines\" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines." @@ -32192,7 +32174,7 @@ UBERON:0004487 MONDO:0006697 http://identifiers.org/hgnc/25985 MONDO:0015141 "A disease that involves the medulla oblongata." "UMLS:CN197487 Orphanet:102000" -MONDO:0021187 "HP:0003077 MESH:D006949 ICD9:272.4 UMLS:C0020473 ICD10:E78.5 EFO:0003774 UMLS:CN236649 SCTID:55822004" +MONDO:0021187 "HP:0003077 MESH:D006949 ICD9:272.4 UMLS:C0020473 EFO:0003774 UMLS:CN236649 SCTID:55822004 ICD10CM:E78.5" UBERON:0004221 http://identifiers.org/hgnc/1371 BFO:0000017 "A specifically dependent continuant that inheres in continuant entities and are not exhibited in full at every time in which it inheres in an entity or group of entities. The exhibition or actualization of a realizable entity is a particular manifestation, functioning or process that occurs under certain circumstances."@en @@ -32202,19 +32184,18 @@ http://identifiers.org/hgnc/28486 MONDO:0000338 "DOID:0050508 UMLS:C1812609 ICD9:050.0 SCTID:47452006" http://identifiers.org/hgnc/29683 UBERON:0003283 -MONDO:0001868 "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component." "UMLS:C0017606 ICD9:365.20 DOID:1405 ICD9:365.2 ICD10:H40.20 NCIT:C34640 EFO:1001506 UMLS:C0017605 SCTID:392288006 ICD10:H40.2" +MONDO:0001868 "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component." "UMLS:C0017606 ICD9:365.20 DOID:1405 ICD9:365.2 NCIT:C34640 EFO:1001506 UMLS:C0017605 SCTID:392288006 ICD10CM:H40.2" MONDO:0020604 "X-linked dominant form of disease." "DOID:0080009" -MONDO:0006745 "A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma." "GARD:0006339 NCIT:C8973 ICD10:C54.1 EFO:1000919 UMLS:C0206630 SCTID:699356008 ICDO:8930/3 DOID:4226 MedDRA:10048397 UMLS:C2239246 MedDRA:10057649 ONCOTREE:ESS MESH:D018203 Orphanet:213711" +MONDO:0006745 "A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma." "GARD:0006339 NCIT:C8973 EFO:1000919 UMLS:C0206630 SCTID:699356008 ICDO:8930/3 ICD10CM:C54.1 DOID:4226 MedDRA:10048397 UMLS:C2239246 MedDRA:10057649 ONCOTREE:ESS MESH:D018203 Orphanet:213711" NCBITaxon:85552 "GC_ID:1" MONDO:0024521 "OMIM:100070 Orphanet:86 UMLS:C0162871" -MONDO:0016548 "Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition." "ICD10:Q62.7 SCTID:253904001 Orphanet:238637" +MONDO:0016548 "Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition." "ICD10CM:Q62.7 SCTID:253904001 Orphanet:238637" http://identifiers.org/hgnc/25726 -MONDO:0002733 http://identifiers.org/hgnc/27288 MONDO:0020823 "SCTID:402824003" UBERON:0001720 UBERON:0004480 -MONDO:0019836 "Orphanet:95507 ICD10:Q26.8" +MONDO:0019836 "Orphanet:95507 ICD10CM:Q26.8" GO:0030225 "The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage." MONDO:0100315 "An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age." MONDO:0003225 "Any disease of the bone marrow." "UMLS:C0005956 NCIT:C34433 DOID:4961 ICD9:289.9 SCTID:127035006 MESH:D001855" @@ -32224,7 +32205,7 @@ NCBITaxon:5819 "GC_ID:1" CL:1000271 MONDO:0000295 "An disease or disorder caused by infection with Acanthocephala." "SCTID:105713003 DOID:0050254 UMLS:C0277331" MONDO:0045037 "An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host." "SCTID:240773008 UMLS:C0343952 MESH:D060605" -MONDO:0016213 "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy." "UMLS:CN226881 ICD10:Q82.8 Orphanet:210133" +MONDO:0016213 "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy." "UMLS:CN226881 Orphanet:210133 ICD10CM:Q82.8" MONDO:0003602 "A malignant adipose tissue neoplasm of the intracranial region." "NCIT:C6973 DOID:5714 UMLS:C1334242" UBERON:0003282 ENVO:01000325 "A layer in a water mass, itself composed primarily of water." @@ -32243,34 +32224,34 @@ UBERON:0022357 CL:1000495 "A goblet cell that is part of the small intestine." "FMA:86929" CL:0010006 UBERON:0001723 -MONDO:0014095 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene." "OMIM:615235 UMLS:C3808935 DOID:0110438 ICD10:I42.0" +MONDO:0014095 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene." "OMIM:615235 UMLS:C3808935 DOID:0110438 ICD10CM:I42.0" MONDO:0001534 "SCTID:359610006 DOID:1248 UMLS:C0155169" MONDO:0013277 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene." "Orphanet:3451 DOID:0080438 UMLS:C3150731 OMIM:613477" CHR:9606-chr3q27.3 HP:0001597 "Abnormality of the nail." "UMLS:C0027339 SNOMEDCT_US:17790008 UMLS:C0853087 MSH:D009264 MSH:D009260" http://identifiers.org/hgnc/26922 -MONDO:0018637 "OMIM:615947 UMLS:CN231410 Orphanet:444490 OMIM:118830 DOID:0111417 ICD10:E78.3 OMIM:238600 OMIM:207750" +MONDO:0018637 "OMIM:615947 ICD10CM:E78.3 UMLS:CN231410 Orphanet:444490 OMIM:118830 DOID:0111417 OMIM:238600 OMIM:207750" GO:0070253 "The regulated release of somatostatin from secretory granules in the D cells of the pancreas." MONDO:0002114 "A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas." "UMLS:C1335307 NCIT:C5714 DOID:1792" MONDO:0001237 "A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare." "DOID:11241 UMLS:C1332328 NCIT:C5513" -MONDO:0020800 "Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system." "UMLS:C0011302 ICD9:341.9 SCTID:6118003 NCIT:C34526 ICD9:341.8 GARD:0012052" +MONDO:0020800 "Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system." "UMLS:C0011302 ICD9:341.9 SCTID:6118003 NCIT:C34526 ICD9:341.8 GARD:0012052 ICD10CM:G35-G37" MONDO:0009190 "OMIM:226950 UMLS:C1856918 MESH:C565585" CHR:9606-chr19q1 -MONDO:0017380 "Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract." "ICD10:D12.6 Orphanet:2929 OMIM:175050 UMLS:C0345893 OMIM:174900 NCIT:C7754 SCTID:9273005 GARD:0003065 OMIM:612242" +MONDO:0017380 "Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract." "Orphanet:2929 OMIM:175050 UMLS:C0345893 OMIM:174900 NCIT:C7754 SCTID:9273005 GARD:0003065 OMIM:612242 ICD10CM:D12.6" MONDO:0004031 "DOID:6898 ONCOTREE:MXOV" -MONDO:0010736 "A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26." "UMLS:C0265554 ICD10:Q71.6 MESH:C564056 DOID:0090027 OMIM:313350 Orphanet:2440 GARD:0004968" -MONDO:0004674 "Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision." "SCTID:46627006 DOID:8886 ICD10:H30.9 ICD9:363.20 ICD10:H30 GARD:0006060 MESH:D002825 NCIT:C110923 HP:0012424 UMLS:C0008513" -MONDO:0017439 "Orphanet:294971 GARD:0005148 MESH:C536498 SCTID:702313004 ICD10:Q73.0 HP:0003057" +MONDO:0010736 "A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26." "UMLS:C0265554 MESH:C564056 DOID:0090027 OMIM:313350 Orphanet:2440 GARD:0004968" +MONDO:0004674 "Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision." "SCTID:46627006 DOID:8886 ICD9:363.20 GARD:0006060 MESH:D002825 NCIT:C110923 HP:0012424 UMLS:C0008513" +MONDO:0017439 "Orphanet:294971 GARD:0005148 ICD10CM:Q73.0 MESH:C536498 SCTID:702313004 HP:0003057" GO:2001153 "Any process that activates or increases the frequency, rate or extent of renal water transport." http://identifiers.org/hgnc/29685 UBERON:0004482 -MONDO:0001799 "ICD9:379.14 ICD10:H15.82 DOID:13787 UMLS:C0155362 SCTID:21946002" +MONDO:0001799 "ICD9:379.14 DOID:13787 UMLS:C0155362 SCTID:21946002" http://identifiers.org/hgnc/3771 MONDO:0007890 "OMIM:151000 MESH:C563630 UMLS:C1835484" -MONDO:0005184 "An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." "DOID:3498 EFO:0002517 NCIT:C9120 MESH:D021441 UMLS:C1335302 UMLS:C0887833 ICD9:157.3 ICD10:C25.3 DOID:3587" +MONDO:0005184 "An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor." "DOID:3498 EFO:0002517 NCIT:C9120 MESH:D021441 UMLS:C1335302 UMLS:C0887833 ICD9:157.3 DOID:3587" MONDO:0025986 "OMIMPS:249210" CL:0010007 -MONDO:0019525 "Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." "SCTID:10567003 GARD:0007754 ICD10:Q97.1 MESH:C536502 ICD9:758.81 Orphanet:9 UMLS:C0265496" +MONDO:0019525 "Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." "SCTID:10567003 ICD10CM:Q97.1 GARD:0007754 MESH:C536502 ICD9:758.81 Orphanet:9 UMLS:C0265496" UBERON:0022358 NCBITaxon:39744 "GC_ID:1" MONDO:0001533 "ICD9:726.61 DOID:12475" @@ -32287,32 +32268,32 @@ UBERON:0003284 GO:0034637 "The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, carried out by individual cells." GO:0031345 "Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections." http://identifiers.org/hgnc/1375 -MONDO:0001305 "Narrowing of the laryngeal airway." "UMLS:C0023075 SCTID:75547007 ICD9:478.74 DOID:11527 MESH:D007829 NCIT:C79608 ICD10:J38.6 HP:0001602" +MONDO:0001305 "Narrowing of the laryngeal airway." "UMLS:C0023075 SCTID:75547007 ICD9:478.74 DOID:11527 MESH:D007829 NCIT:C79608 ICD10CM:J38.6 HP:0001602" CHEBI:50329 MONDO:0023597 "Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11." "SCTID:232457008 UMLS:C0396072 MESH:C537876 GARD:0006864" -MONDO:0009313 "Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients." "UMLS:C2931551 GARD:0002576 Orphanet:2101 MESH:C537621 ICD10:Q87.8 OMIM:233810" -MONDO:0001220 "Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body." "ICD10:E20 GARD:0006733 NCIT:C78350 OMIM:307700 ICD10:E20.9 MESH:D007011 SCTID:36976004 ICD9:252.1 OMIM:146200 Orphanet:2238 DOID:11199" -MONDO:0019837 "Orphanet:95510 ICD10:Q20.8" -MONDO:0011460 "An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12." "UMLS:C1858378 OMIM:604401 DOID:0110075 ICD10:I42.8 MESH:C565775 Orphanet:217656" +MONDO:0009313 "Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients." "UMLS:C2931551 GARD:0002576 ICD10CM:Q87.8 Orphanet:2101 MESH:C537621 OMIM:233810" +MONDO:0001220 "Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body." "GARD:0006733 NCIT:C78350 ICD10CM:E20 OMIM:307700 MESH:D007011 SCTID:36976004 ICD9:252.1 OMIM:146200 Orphanet:2238 DOID:11199" +MONDO:0019837 "Orphanet:95510 ICD10CM:Q20.8" +MONDO:0011460 "An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12." "UMLS:C1858378 OMIM:604401 DOID:0110075 MESH:C565775 Orphanet:217656" PATO:0001777 "A flexibility which is relatively low." HP:0000708 "An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities." "UMLS:C0004941 SNOMEDCT_US:277843001 UMLS:C0233514 MSH:D000066553 SNOMEDCT_US:25786006 MSH:D001526" GO:0034760 "Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore." MONDO:0007634 "MESH:C566980 UMLS:C1969893 OMIM:136630" NCBITaxon:160008 "GC_ID:1" http://identifiers.org/hgnc/24783 -MONDO:0005519 "A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." "DOID:4919 ICD10:C65 UMLS:C0153618 SCTID:363457009 NCIT:C6142 ICD9:189.1 UMLS:C1335749 EFO:0005582" -MONDO:0004549 "An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia." "ICD9:495.3 SCTID:13394002 ICD10:J67.3 UMLS:C0152108 DOID:840" -MONDO:0020432 "Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress." "Orphanet:99101 ICD10:Q20.8" +MONDO:0005519 "A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas." "DOID:4919 UMLS:C0153618 SCTID:363457009 NCIT:C6142 ICD9:189.1 UMLS:C1335749 EFO:0005582 ICD10CM:C65" +MONDO:0004549 "An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia." "ICD9:495.3 SCTID:13394002 UMLS:C0152108 DOID:840" +MONDO:0020432 "Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress." "Orphanet:99101 ICD10CM:Q20.8" MONDO:0011117 "UMLS:C1866608 OMIM:601616 MESH:C566651" MONDO:0005239 -MONDO:0008491 "Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis." "UMLS:C0085292 MedDRA:10042044 UMLS:C1861457 ICD10:G25.8 Orphanet:3198 ICD9:333.91 GARD:0005023 EFO:0007498 SCTID:5217008 NCIT:C85170 ICD10:G25.82 MESH:D016750 DOID:13366 OMIM:184850" +MONDO:0008491 "Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis." "UMLS:C0085292 MedDRA:10042044 UMLS:C1861457 Orphanet:3198 ICD9:333.91 GARD:0005023 EFO:0007498 SCTID:5217008 NCIT:C85170 ICD10CM:G25.8 MESH:D016750 DOID:13366 OMIM:184850" MONDO:0006385 "A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor." "NCIT:C54295 EFO:1000492 UMLS:C1709663" -MONDO:0002004 "A cholesterol embolism that involves the kidney." "DOID:1460 ICD10:I75.81" -MONDO:0001179 "A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus." "EFO:1001824 MESH:D059407 DOID:11029 ICD9:372.51 ICD10:H11.15 SCTID:87614000 UMLS:C0152255" +MONDO:0002004 "A cholesterol embolism that involves the kidney." "DOID:1460 ICD10CM:I75.81" +MONDO:0001179 "A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus." "EFO:1001824 MESH:D059407 DOID:11029 ICD9:372.51 SCTID:87614000 UMLS:C0152255" UBERON:0015009 UBERON:0001982 UBERON:0002081 -MONDO:0008123 "Autosomal dominant form of omodysplasia." "Orphanet:2733 OMIM:164745 GARD:0003643 MESH:C567664 Orphanet:93328 ICD10:Q78.8 SCTID:725165009" +MONDO:0008123 "Autosomal dominant form of omodysplasia." "Orphanet:2733 OMIM:164745 ICD10CM:Q78.8 GARD:0003643 MESH:C567664 Orphanet:93328 SCTID:725165009" PATO:0002039 "A concave quality inhering in a bearer by virtue of the bearer's curving inward on both sides or surfaces." GO:2000215 "Any process that stops, prevents, or reduces the frequency, rate or extent of proline metabolic process." MONDO:0006339 "A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." "EFO:1000424 UMLS:C4054287 NCIT:C121953" @@ -32321,19 +32302,19 @@ MONDO:0021120 "A hormone producing endocrine neoplasm, associated with a hormona MONDO:0009195 "OMIM:227000" UBERON:0002080 HP:0100314 "Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain." "UMLS:C4022149" -MONDO:0020469 "48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males." "SCTID:733625003 ICD10:Q98.8 GARD:0011985 Orphanet:99329 UMLS:C4518082 UMLS:CN207331" +MONDO:0020469 "48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males." "SCTID:733625003 ICD10CM:Q98.8 GARD:0011985 Orphanet:99329 UMLS:C4518082 UMLS:CN207331" MONDO:0025511 "An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome." "UMLS:CN202530 Orphanet:271847" HP:0012205 "Any structural anomaly of the acrosome resulting in a round sperm head." "UMLS:C0403825 SNOMEDCT_US:236818008 MSH:D000072660" -MONDO:0010921 "A dermoid cyst that involves the nose." "Orphanet:141103 ICD10:Q18.8 MESH:C563455 UMLS:C1833473 OMIM:600679" +MONDO:0010921 "A dermoid cyst that involves the nose." "Orphanet:141103 ICD10CM:Q18.8 MESH:C563455 UMLS:C1833473 OMIM:600679" UBERON:0001981 GO:0033240 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amines." MONDO:0006437 MONDO:0700086 "A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders." "NCIT:C85215" GO:0099143 "The actin cytoskeleton that is part of a presynapse." -MONDO:0002098 "A disease involving the facial nerve." "MESH:D005155 DOID:1756 ICD9:351 ICD9:351.9 ICD10:G51.9 NCIT:C27594 UMLS:C0015464 ICD10:G51 SCTID:422426003" +MONDO:0002098 "A disease involving the facial nerve." "MESH:D005155 ICD10CM:G51 DOID:1756 ICD9:351 ICD9:351.9 NCIT:C27594 UMLS:C0015464 SCTID:422426003" http://identifiers.org/hgnc/6015 UBERON:0009117 -MONDO:0014618 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene." "OMIM:616394 UMLS:C4225342 ICD10:H35.5 DOID:0110363" +MONDO:0014618 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene." "OMIM:616394 UMLS:C4225342 DOID:0110363" GO:1902653 "The chemical reactions and pathways resulting in the formation of secondary alcohol." MONDO:0020820 "OMIM:601680 DOID:0111600" MONDO:0004479 "A malignant germ cell tumor that occurs during childhood." "NCIT:C6541 UMLS:C1334574 DOID:8149" @@ -32343,7 +32324,7 @@ MONDO:0044284 "OBSOLETE. The Gerbich blood group system contains 6 high-prevalen UBERON:0015007 GO:0051172 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds." http://identifiers.org/hgnc/17213 -MONDO:0019578 "Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption." "SCTID:717257000 UMLS:C4273968 ICD10:L98.5 Orphanet:90393" +MONDO:0019578 "Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption." "SCTID:717257000 UMLS:C4273968 Orphanet:90393 ICD10CM:L98.5" MONDO:0009193 "OMIM:226985 UMLS:C1856902 MESH:C565584" MONDO:0012318 "OMIM:609630 Orphanet:67038" MONDO:0008288 "A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint." "MESH:D011151 ICD9:727.51 OMIM:175750 SCTID:82675004" @@ -32364,23 +32345,22 @@ MONDO:0006616 "An allergic contact dermatitis caused by exposure to plants of th MONDO:0012317 "Orphanet:2978 OMIM:609629 UMLS:C1864996" MONDO:0002779 "An extraskeletal chondroma usually arising from the dura." "DOID:3813 NCIT:C7001 UMLS:C1333019" GO:0048729 "The process in which the anatomical structures of a tissue are generated and organized." -MONDO:0044965 "A disease or disorder that involves the abdominal segment of trunk." "UMLS:C3661988 SCTID:609618002" -MONDO:0000845 "A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures." "ICD9:733.29 MedDRA:10016664 NCIT:C34609 MESH:D005357 SCTID:254145001 GARD:0006444 DOID:0080031 Orphanet:249 SCTID:10623005 ICD10:Q78.1" +MONDO:0000845 "A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures." "ICD9:733.29 MedDRA:10016664 NCIT:C34609 MESH:D005357 SCTID:254145001 GARD:0006444 DOID:0080031 Orphanet:249 SCTID:10623005 ICD10CM:Q78.1" UBERON:0014907 -MONDO:0002885 "A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum." "SCTID:264207005 ICD9:041.85 UMLS:C2364003 ICD10:L08.1 EFO:1000696 DOID:4131 MESH:D004894 UMLS:C0014752" +MONDO:0002885 "A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum." "SCTID:264207005 ICD9:041.85 UMLS:C2364003 EFO:1000696 ICD10CM:L08.1 DOID:4131 MESH:D004894 UMLS:C0014752" MONDO:0012319 "MESH:C566501 UMLS:C1864994 OMIM:609633" GO:0030518 "A series of molecular signals generated as a consequence of a intracellular steroid hormone receptor binding to one of its physiological ligands." MONDO:0010922 "Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system." "MESH:C536616 Orphanet:3130 SCTID:763630007 GARD:0000160 MedDRA:10070579 UMLS:C1833454 OMIM:600705" -MONDO:0016260 "A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor." "UMLS:C4288047 NCIT:C127058 Orphanet:213615 ICD10:C54.2" -MONDO:0002657 "A disease involving the breast." "SCTID:79604008 ICD9:611.8 ICD10:N64.9 ICD10:N60-N65 ICD9:611.9 ICD9:610-612.99 MESH:D001941 DOID:3463 NCIT:C26709 UMLS:C0006145" +MONDO:0016260 "A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor." "ICD10CM:C54.2 UMLS:C4288047 NCIT:C127058 Orphanet:213615" +MONDO:0002657 "A disease involving the breast." "SCTID:79604008 ICD10CM:N60-N65 ICD9:611.8 ICD9:611.9 ICD9:610-612.99 MESH:D001941 DOID:3463 NCIT:C26709 UMLS:C0006145" GO:0022618 "The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex." CHEBI:33659 GO:0016885 "Catalysis of the joining of two molecules via a carbon-carbon bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate." MONDO:0013749 "Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene." "UMLS:C3280785 OMIM:614432" MONDO:0023581 "UMLS:C2931741 MESH:C538126 GARD:0003152" -MONDO:0004037 "MESH:D010211 SCTID:6141006 ICD9:362.83 DOID:6929 ICD10:H35.81" -MONDO:0002046 "The use of alcoholic beverages to excess, either on individual occasions (\"binge drinking\") or as a regular practice." "ICD9:305.0 SCTID:15167005 DOID:1574 MESH:D019973 ICD9:305.00 NCIT:C20701 MESH:D000437 ICD10:F10.1" -MONDO:0020351 "Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development." "Orphanet:98922 ICD10:Q03.1" +MONDO:0004037 "MESH:D010211 SCTID:6141006 ICD9:362.83 DOID:6929" +MONDO:0002046 "The use of alcoholic beverages to excess, either on individual occasions (\"binge drinking\") or as a regular practice." "ICD9:305.0 SCTID:15167005 DOID:1574 MESH:D019973 ICD9:305.00 NCIT:C20701 MESH:D000437" +MONDO:0020351 "Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development." "ICD10CM:Q03.1 Orphanet:98922" MONDO:0011700 "An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13." "MESH:C564681 UMLS:C1847692 DOID:0110907 OMIM:606674" MONDO:0034106 "OMIM:618379 Orphanet:544503" FOODON:03315468 "SUBSET_SIREN:F15468" @@ -32395,36 +32375,35 @@ MONDO:0009199 "SCTID:64235006 OMIM:227150 UMLS:C0268423 ICD9:270.8 MESH:C562651 CL:0000059 "Skeletogenic cell that produces enamel, overlies the odontogenic papilla, and arises from the differentiation of a preameloblast cell." "FMA:70576 BTO:0001663" GO:1905039 "The process in which carboxylic acid is transported across a membrane." http://identifiers.org/hgnc/7477 -MONDO:0007351 "Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders." "Orphanet:98945 ICD10:Q14.8 GARD:0001436 OMIM:120300" -MONDO:0004036 +MONDO:0007351 "Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders." "Orphanet:98945 GARD:0001436 ICD10CM:Q14.8 OMIM:120300" MONDO:0006433 -MONDO:0100062 "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity." "OMIM:300672 SCTID:230429005 UMLS:C0037769 NCIT:C84788 ICD10:G40.3 GARD:0009255 OMIM:615473 OMIM:607208 OMIMPS:308350 OMIM:613721 OMIM:612164 OMIM:609304 SCTID:28055006 Orphanet:1934 OMIM:613477 OMIM:308350 OMIM:300607 NCIT:C122814 DOID:0050709 ICD9:345.6 OMIM:616341 ICD10:G40.82 ICD9:345.10 MedDRA:10071545 OMIM:613720 EFO:1000643 DOID:2481 OMIM:613402 OMIM:613722" +MONDO:0100062 "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity." "OMIM:300672 SCTID:230429005 UMLS:C0037769 NCIT:C84788 GARD:0009255 OMIM:615473 OMIM:607208 OMIMPS:308350 OMIM:613721 OMIM:612164 OMIM:609304 SCTID:28055006 Orphanet:1934 OMIM:613477 OMIM:308350 OMIM:300607 NCIT:C122814 DOID:0050709 ICD9:345.6 OMIM:616341 ICD9:345.10 MedDRA:10071545 OMIM:613720 EFO:1000643 ICD10CM:G40.3 DOID:2481 OMIM:613402 OMIM:613722" MONDO:0014716 "UMLS:C4225259 OMIM:616638 EFO:0009050 Orphanet:457485" UBERON:0010371 MONDO:0021101 "A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." "DOID:8151 NCIT:C27445 UMLS:C3274138" MONDO:0008834 "DOID:0111579 UMLS:C1859648 OMIM:208550" -MONDO:0013940 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene." "ICD10:Q34.8 OMIM:614874 UMLS:C3543825 DOID:0110604" +MONDO:0013940 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene." "OMIM:614874 UMLS:C3543825 DOID:0110604" MONDO:0034109 "OMIM:618414 Orphanet:544602" MONDO:0021248 "A neoplasm (disease) that involves the nervous system." "NCIT:C3268" -MONDO:0016042 "Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described." "Orphanet:199299 ICD10:E23.6" +MONDO:0016042 "Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described." "Orphanet:199299 ICD10CM:E23.6" MONDO:0007898 "MESH:C563626 OMIM:151500 UMLS:C1835405" MONDO:0007632 "OMIM:136580" -MONDO:0008469 "Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings." "MESH:C535783 GARD:0010101 OMIM:183849 Orphanet:168443 UMLS:C1866728 ICD10:Q77.7" -MONDO:0016646 "Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." "UMLS:CN201872 Orphanet:250932 ICD10:H47.2" +MONDO:0008469 "Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings." "MESH:C535783 GARD:0010101 OMIM:183849 Orphanet:168443 ICD10CM:Q77.7 UMLS:C1866728" +MONDO:0016646 "Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." "ICD10CM:H47.2 UMLS:CN201872 Orphanet:250932" MONDO:0007024 "Infections with bacteria of the species yersinia pseudotuberculosis." "EFO:1001246 UMLS:C0043410 MESH:D015012 SCTID:36753006" MONDO:0005237 http://identifiers.org/hgnc/9870 CHEBI:50858 "A natural or synthetic analogue of the hormones secreted by the adrenal gland." MONDO:0012613 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene." "UMLS:C1970199 MESH:C567018 OMIM:611091" MONDO:0003612 "A primary or metastatic malignant neoplasm that affects the uterine ligament." "UMLS:C1519870 DOID:5727 UMLS:C0864950 NCIT:C126498 NCIT:C40133" -MONDO:0003795 "A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." "DOID:6179 EFO:1000431 Orphanet:370396 UMLS:C2212006 NCIT:C27390 GARD:0010411 ONCOTREE:SCCO ICD10:C56" +MONDO:0003795 "A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type." "DOID:6179 EFO:1000431 ICD10CM:C56 Orphanet:370396 UMLS:C2212006 NCIT:C27390 GARD:0010411 ONCOTREE:SCCO" UBERON:0015003 MONDO:0006434 GO:0046394 "The chemical reactions and pathways resulting in the formation of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups." MONDO:0003938 "NCIT:C39835 UMLS:C1511188 DOID:6594" MONDO:0004039 "DOID:6931" MONDO:0018698 "An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome." "Orphanet:456333 UMLS:CN237770 UMLS:CN847586" -MONDO:0019443 "Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance." "Orphanet:860 OMIM:608808 DOID:0060770 ICD10:Q20.3 OMIM:613854 OMIMPS:608808" +MONDO:0019443 "Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance." "Orphanet:860 ICD10CM:Q20.3 OMIM:608808 DOID:0060770 OMIM:613854 OMIMPS:608808" UBERON:0001980 GO:1900116 "Any negative regulation of signal transduction that takes place in extracellular region." GO:0046580 "Any process that stops, prevents, or reduces the frequency, rate or extent of Ras protein signal transduction." @@ -32435,16 +32414,16 @@ MONDO:0011313 "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydroceph http://identifiers.org/hgnc/9871 CHEBI:50860 "Any molecular entity that contains carbon." HP:0003577 "A phenotypic abnormality that is present at birth." "UMLS:C1836142 UMLS:C2752013" -MONDO:0017346 "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate." "UMLS:C2700007 Orphanet:289661 ICD10:C83.3 ICDO:9680/3 SCTID:716788007 NCIT:C80281" +MONDO:0017346 "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate." "UMLS:C2700007 Orphanet:289661 ICDO:9680/3 SCTID:716788007 ICD10CM:C83.3 NCIT:C80281" UBERON:0015004 -MONDO:0015150 "A hereditary spastic paraplegia that is part of a larger syndrome." "UMLS:C0393556 SCTID:230261006 UMLS:CN197491 ICD10:G11.4 Orphanet:102013" +MONDO:0015150 "A hereditary spastic paraplegia that is part of a larger syndrome." "UMLS:C0393556 SCTID:230261006 UMLS:CN197491 ICD10CM:G11.4 Orphanet:102013" MONDO:0021183 "UMLS:C0020102 MESH:D015491 GARD:0009783 EFO:1001349 SCTID:425740005" -MONDO:0010808 "Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances." "UMLS:C0206042 SCTID:83157008 ICD10:A81.8 Orphanet:466 MESH:D034062 NCIT:C84711 ICD9:046.72 ICD10:A81.83 OMIM:600072 DOID:0050433 MedDRA:10072077 GARD:0006429" +MONDO:0010808 "Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances." "UMLS:C0206042 ICD10CM:A81.83 SCTID:83157008 Orphanet:466 MESH:D034062 NCIT:C84711 ICD9:046.72 ICD10CM:A81.8 OMIM:600072 DOID:0050433 MedDRA:10072077 GARD:0006429" CL:0002556 "A fibroblast of the periodontium." MONDO:0003168 "A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis." "SCTID:277507004 UMLS:C0349620 DOID:4853 NCIT:C6809" -MONDO:0006590 "A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis." "GARD:0008167 SCTID:706885006 EFO:1000745 ICD9:757.39 ICD10:L85.2 DOID:3390 NCIT:C34748" +MONDO:0006590 "A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis." "GARD:0008167 SCTID:706885006 EFO:1000745 ICD9:757.39 DOID:3390 NCIT:C34748" MONDO:0014245 "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene." "Orphanet:124 OMIM:615550 UMLS:C3809888" -MONDO:0015883 "Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." "ICD10:Q82.8 GARD:0000280 Orphanet:1809 UMLS:C2930953 SCTID:721147000 MESH:C535621" +MONDO:0015883 "Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." "GARD:0000280 Orphanet:1809 UMLS:C2930953 SCTID:721147000 MESH:C535621 ICD10CM:Q82.8" http://identifiers.org/hgnc/4713 http://identifiers.org/hgnc/11117 CL:1001590 "Glandular cell of epididymal epithelium." "CALOHA:TS-1276" @@ -32454,29 +32433,29 @@ UBERON:0035763 MONDO:0014948 "UMLS:C4310686 OMIM:617164" NCBITaxon:54281 "GC_ID:1" NCIT:C35867 -MONDO:0001595 "A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease." "MESH:D002819 EFO:0004152 NCIT:C84633 UMLS:C1859098 OMIM:215450 ICD10:G25.5 ICD9:333.5 SCTID:230306001 HP:0002072 Orphanet:1429 SCTID:230298007 OMIM:118700 DOID:12859" +MONDO:0001595 "A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease." "ICD10CM:G25.5 MESH:D002819 EFO:0004152 NCIT:C84633 UMLS:C1859098 OMIM:215450 ICD9:333.5 SCTID:230306001 HP:0002072 Orphanet:1429 SCTID:230298007 OMIM:118700 DOID:12859" MONDO:0011375 "MESH:C565842 UMLS:C1859069 OMIM:603828" MONDO:0032807 "OMIM:618547" -MONDO:0018971 "Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull." "OMIM:616602 OMIM:123100 Orphanet:63440 ICD10:Q75.0 SCTID:48069004" +MONDO:0018971 "Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull." "OMIM:616602 OMIM:123100 ICD10CM:Q75.0 Orphanet:63440 SCTID:48069004" GO:0005623 "OBSOLETE. The basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope." UBERON:0006617 -MONDO:0020354 "Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated." "OMIM:120200 Orphanet:98942 GARD:0001432 ICD10:Q14.8 SCTID:39302008" +MONDO:0020354 "Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated." "OMIM:120200 Orphanet:98942 GARD:0001432 ICD10CM:Q14.8 SCTID:39302008" MONDO:0012572 "UMLS:C1970485 OMIM:610871 GARD:0009695 MESH:C567055" MONDO:0006789 "Abnormally high level of amylase in the blood." "NCIT:C113755 MESH:D034321 EFO:1000969 MedDRA:10062777" NCBITaxon:2731363 "GC_ID:1" UBERON:0013718 CL:0002372 "A transversely striated, synctial muscle cell, formed by the fusion of myoblasts." UBERON:0015013 -MONDO:0012508 "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation." "Orphanet:83617 UMLS:C1864848 OMIM:610483 ICD10:Q87.0 SCTID:722281001 GARD:0010011 MESH:C538055" -MONDO:0007150 "A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." "ICD10:H18.41 UMLS:C0003742 SCTID:231924000 OMIM:107800 MedDRA:10003082 EFO:1000818 DOID:11342 MESH:D001112" +MONDO:0012508 "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation." "Orphanet:83617 ICD10CM:Q87.0 UMLS:C1864848 OMIM:610483 SCTID:722281001 GARD:0010011 MESH:C538055" +MONDO:0007150 "A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." "UMLS:C0003742 SCTID:231924000 OMIM:107800 MedDRA:10003082 EFO:1000818 DOID:11342 MESH:D001112" MONDO:0013771 "OMIM:614480 Orphanet:300293 UMLS:C3280953" -MONDO:0014081 "Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections." "OMIM:615206 UMLS:C3554686 Orphanet:357237 ICD10:D81.2" +MONDO:0014081 "Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections." "OMIM:615206 UMLS:C3554686 Orphanet:357237 ICD10CM:D81.2" MONDO:0003318 "Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern)." "NCIT:C9149 UMLS:C0279611 DOID:5179" MONDO:0018640 "Orphanet:445197" UBERON:0016478 MONDO:0019181 "Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX." "OMIM:300504 OMIM:300505 OMIM:300716 GARD:0003542 OMIMPS:309530 OMIM:300271 OMIM:300433 OMIM:300984 OMIM:300803 OMIM:300047 OMIM:300928 DOID:0050776 OMIM:300844 OMIM:300849 OMIM:300115 Orphanet:777 OMIM:300372 OMIM:300705 OMIM:300850 OMIM:300978 OMIM:300143 OMIM:300355 OMIM:300983 OMIM:300419 OMIM:300802 OMIM:300324 OMIM:300046 UMLS:C3501611 OMIM:300518 OMIM:300848 OMIM:300919 OMIM:300210 OMIM:300062 OMIM:300454 OMIM:300387 OMIM:300852 OMIM:300436 OMIM:300114 OMIM:300558 OMIM:300498 OMIM:309530 OMIM:300428 OMIM:309549 MESH:C564490 OMIM:300851" MONDO:0014823 "A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features." "UMLS:C4225161 OMIM:616900 Orphanet:488632" -MONDO:0015720 "Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "Orphanet:169805 ICD10:D66 UMLS:CN200231" +MONDO:0015720 "Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "ICD10CM:D66 Orphanet:169805 UMLS:CN200231" MONDO:0004177 "Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics." "NCIT:C3428 NCIT:C3619 DOID:730 ICD9:223.81 SCTID:92466006" http://identifiers.org/hgnc/9607 MONDO:0100350 "Orphanet:139536" @@ -32484,41 +32463,41 @@ CHEBI:33839 "A macromolecule is a molecule of high relative molecular mass, the MONDO:0025485 "Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv)." "UMLS:C0079335 MESH:D016181" MONDO:0032806 "OMIM:618546" MONDO:0001405 "Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area." "UMLS:C0011638 SCTID:399029005 DOID:11917 ICD9:110.3 NCIT:C34535" -MONDO:0010544 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene." "MESH:C535338 Orphanet:91492 OMIM:302200 GARD:0008278 Orphanet:98994 Orphanet:98991 DOID:0110272 ICD10:Q12.0" +MONDO:0010544 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene." "MESH:C535338 Orphanet:91492 OMIM:302200 GARD:0008278 Orphanet:98994 Orphanet:98991 DOID:0110272" UBERON:0006616 UBERON:0015014 -MONDO:0024582 "A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma." "SCTID:126895004 ICD9:239.5 NCIT:C3054" -MONDO:0014702 "Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene." "DOID:0110825 UMLS:C4225272 OMIM:616586 Orphanet:447760 ICD10:G11.4" +MONDO:0024582 "A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma." "SCTID:126895004 ICD9:239.5 ICD10CM:C60-C63 NCIT:C3054" +MONDO:0014702 "Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene." "DOID:0110825 ICD10CM:G11.4 UMLS:C4225272 OMIM:616586 Orphanet:447760" UBERON:0010375 CL:0000417 CHEBI:75763 "Any metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms." MONDO:0014946 "OMIM:617159 UMLS:C4310688" http://identifiers.org/hgnc/14974 -MONDO:0015705 "Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." "ICD10:G71.2 GARD:0012718 UMLS:C3645536 OMIM:255200 SCTID:240081004 Orphanet:169186 OMIM:615959 DOID:0111216" +MONDO:0015705 "Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." "GARD:0012718 UMLS:C3645536 OMIM:255200 ICD10CM:G71.2 SCTID:240081004 Orphanet:169186 OMIM:615959 DOID:0111216" HP:0025132 "A deviation from normal concentration of the hormone estrogen in the blood circulation." MONDO:0034103 "Orphanet:544482" -MONDO:0017442 "Orphanet:294977 ICD10:Q72.1 SCTID:55852007 ICD9:755.33" +MONDO:0017442 "ICD10CM:Q72.1 Orphanet:294977 SCTID:55852007 ICD9:755.33" CL:4006001 "A fibroblast that is part of the skin of scalp." -MONDO:0013541 "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene." "DOID:0090137 OMIM:614039 Orphanet:300570 UMLS:CN203402 ICD10:Q04.3 GARD:0013032" +MONDO:0013541 "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene." "ICD10CM:Q04.3 OMIM:614039 DOID:0090137 Orphanet:300570 UMLS:CN203402 GARD:0013032" MONDO:0013772 "Orphanet:300313 UMLS:C3280965 OMIM:614482" HP:0000301 "An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." "UMLS:C4025865" MONDO:0032809 "OMIM:618549" http://identifiers.org/hgnc/11115 -MONDO:0012764 "An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29." "ICD10:D82.8 UMLS:C2677792 MESH:C567453 EFO:0009055 DOID:0090113 OMIM:611943 Orphanet:420741" +MONDO:0012764 "An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29." "UMLS:C2677792 MESH:C567453 EFO:0009055 DOID:0090113 OMIM:611943 Orphanet:420741 ICD10CM:D82.8" MONDO:0006368 "An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor." "UMLS:C1831619 NCIT:C67237 EFO:1000473" MONDO:0010488 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene." "OMIM:300923 UMLS:C3890167" GO:0000781 "The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres)." -MONDO:0007804 "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." "SCTID:56677004 ICD9:759.89 UMLS:C0265220 GARD:0007305 ICD10:D33.0 OMIM:146510 Orphanet:672 DOID:9248 NCIT:C84987 MESH:D054975" +MONDO:0007804 "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." "SCTID:56677004 ICD9:759.89 UMLS:C0265220 GARD:0007305 ICD10CM:D33.0 OMIM:146510 Orphanet:672 DOID:9248 NCIT:C84987 MESH:D054975" UBERON:0011574 http://identifiers.org/hgnc/3518 MONDO:0006743 "Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis." "EFO:1000917 MESH:D014383 UMLS:C0041310" MONDO:0011111 "OMIM:601563" GO:2000292 "Any process that modulates the frequency, rate or extent of defecation." MONDO:0012989 "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene." "MESH:C567198 DOID:0070278 Orphanet:2512 OMIM:612703 UMLS:C2675187" -MONDO:0011774 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene." "MESH:C564624 UMLS:C1846784 DOID:0110489 Orphanet:90636 OMIM:607101 ICD10:H90.3" -MONDO:0010814 "Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested." "Orphanet:1422 UMLS:C1838654 OMIM:600092 ICD10:Q87.1 MESH:C536123 DOID:0060644 SCTID:720851007" +MONDO:0011774 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene." "MESH:C564624 UMLS:C1846784 DOID:0110489 Orphanet:90636 OMIM:607101" +MONDO:0010814 "Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested." "ICD10CM:Q87.1 Orphanet:1422 UMLS:C1838654 OMIM:600092 MESH:C536123 DOID:0060644 SCTID:720851007" UBERON:0006615 -MONDO:0014829 "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene." "DOID:0090011 ICD10:D84.8 OMIM:616911 UMLS:C4310798" +MONDO:0014829 "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene." "DOID:0090011 OMIM:616911 UMLS:C4310798" UBERON:0010376 NCBITaxon:2731361 "GC_ID:1" MONDO:0054637 "OMIM:607721" @@ -32528,34 +32507,34 @@ http://identifiers.org/hgnc/14977 MONDO:0034104 "Orphanet:544488" http://identifiers.org/hgnc/7208 MONDO:0032808 "OMIM:618548" -MONDO:0017198 "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." "SCTID:367489004 Orphanet:2781 DOID:13533 ICD9:756.52 Orphanet:667 GARD:0004155 SCTID:1926006 MedDRA:10031280 NCIT:C26840 HP:0011002 ICD10:Q78.2" -MONDO:0013279 "Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene." "ICD10:I45.8 OMIM:613485 DOID:0110654 Orphanet:101016 Orphanet:768 UMLS:C3150733" +MONDO:0017198 "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." "SCTID:367489004 Orphanet:2781 DOID:13533 ICD9:756.52 Orphanet:667 GARD:0004155 SCTID:1926006 MedDRA:10031280 NCIT:C26840 HP:0011002" +MONDO:0013279 "Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene." "OMIM:613485 DOID:0110654 Orphanet:101016 Orphanet:768 UMLS:C3150733" UBERON:0007812 http://identifiers.org/hgnc/11114 -MONDO:0100352 "DOID:0090053 ICD10:G24.8 SCTID:609221008 Orphanet:98809 OMIM:128200 OMIM:611031 GARD:0008721 MESH:C537180 ICD9:333.5" +MONDO:0100352 "DOID:0090053 SCTID:609221008 ICD10CM:G24.8 Orphanet:98809 OMIM:128200 OMIM:611031 GARD:0008721 MESH:C537180 ICD9:333.5" MONDO:0002469 "A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland." "NCIT:C6804 UMLS:C0346342 SCTID:254989000 DOID:296" -MONDO:0002972 "A malignant neoplasm involving the posterior mediastinum." "ICD9:164.3 UMLS:C0153502 SCTID:448670003 ICD10:C38.2 DOID:436" -MONDO:0011376 "OMIM:603829 Orphanet:228140 MESH:C567851 SCTID:233915000 UMLS:C2751898 ICD10:I49.0" +MONDO:0002972 "A malignant neoplasm involving the posterior mediastinum." "ICD9:164.3 UMLS:C0153502 SCTID:448670003 DOID:436" +MONDO:0011376 "OMIM:603829 Orphanet:228140 MESH:C567851 SCTID:233915000 UMLS:C2751898 ICD10CM:I49.0" http://identifiers.org/hgnc/3519 ENVO:02500031 "An environmental process which has water - in any of its states - as a participant." HP:0001397 "Steatosis is a term used to denote lipid accumulation within hepatocytes." "MSH:D005234 SNOMEDCT_US:197321007 SNOMEDCT_US:442191002 UMLS:C2711227" UBERON:0006614 UBERON:0010377 MONDO:0054636 "OMIM:617616 Orphanet:513456 UMLS:C4539927" -MONDO:0018846 "An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities." "SCTID:59981001 ICD10:Q55.5 NCIT:C99009 MESH:C536649 Orphanet:49 GARD:0004272" +MONDO:0018846 "An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities." "SCTID:59981001 NCIT:C99009 MESH:C536649 Orphanet:49 GARD:0004272" MONDO:0014944 "Orphanet:464288 OMIM:617157 UMLS:C4310689" -MONDO:0013623 "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene." "UMLS:C3280120 Orphanet:98885 OMIM:614201 DOID:0111057 GARD:0013293 Orphanet:73271 SCTID:765977002 ICD10:D69.8" -MONDO:0015043 "Orphanet:100022 ICD10:C90.2 UMLS:CN197328" +MONDO:0013623 "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene." "UMLS:C3280120 Orphanet:98885 OMIM:614201 DOID:0111057 GARD:0013293 ICD10CM:D69.8 Orphanet:73271 SCTID:765977002" +MONDO:0015043 "ICD10CM:C90.2 Orphanet:100022 UMLS:CN197328" UBERON:0035767 NCBITaxon:54285 "GC_ID:1" UBERON:0009115 NCBITaxon:6180 "GC_ID:1" -MONDO:0019369 "Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." "ICD10:M89.0 MESH:D020918 ICD10:G56.4 DOID:3223 MedDRA:10064332 GARD:0004647 OMIM:604335 Orphanet:83452 UMLS:C0458219 SCTID:128200000" +MONDO:0019369 "Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb." "ICD10CM:M89.0 MESH:D020918 DOID:3223 MedDRA:10064332 ICD10CM:G56.4 GARD:0004647 OMIM:604335 Orphanet:83452 UMLS:C0458219 SCTID:128200000" GO:0043043 "The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide." MONDO:0011379 MONDO:0032803 "OMIM:618534" http://identifiers.org/hgnc/15911 -MONDO:0011719 "Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1." "ICD10:C26.9 OMIM:606764 MedDRA:10051066 Orphanet:44890 NCIT:C3868 ICDO:8936/1 UMLS:C3179349 DOID:9253 UMLS:C0238198 ONCOTREE:GIST SCTID:420120006 GARD:0008598 MESH:D046152" +MONDO:0011719 "Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1." "Orphanet:44890 ICDO:8936/1 MESH:D046152 ONCOTREE:GIST UMLS:C0238198 GARD:0008598 UMLS:C3179349 OMIM:606764 DOID:9253 NCIT:C3868 SCTID:420120006 MedDRA:10051066 ICD10CM:C26.9" UBERON:0010378 MONDO:0006603 "A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing." "UMLS:C1335666 DOID:2053 EFO:1000759 NCIT:C27549" MONDO:0002184 "Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite." "DOID:2044 EFO:1000905 SCTID:235889003" @@ -32564,38 +32543,38 @@ HP:0100000 "An early onset of puberty, in this case early does not refer to prec MONDO:0003312 "A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma." "NCIT:C40065 UMLS:C4288544 DOID:5169" GO:0050908 "The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal." GO:0048243 "The regulated release of norepinephrine by a cell. Norepinephrine is a catecholamine and it acts as a hormone and as a neurotransmitter of most of the sympathetic nervous system." -MONDO:0019475 "Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue." "OMIM:618398 ICDO:9708/3 ONCOTREE:SPTCL MESH:C537503 ICD10:C83.6 EFO:1000552 ICD9:202.70 SCTID:404133000 UMLS:C0522624 NCIT:C6918 GARD:0010193 ICD10:C86.3 Orphanet:86884" -MONDO:0015042 "UMLS:CN197327 Orphanet:100021 ICD10:C90.3" +MONDO:0019475 "Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue." "OMIM:618398 ICD10CM:C86.3 ICDO:9708/3 ONCOTREE:SPTCL MESH:C537503 EFO:1000552 ICD9:202.70 SCTID:404133000 UMLS:C0522624 NCIT:C6918 GARD:0010193 Orphanet:86884" +MONDO:0015042 "UMLS:CN197327 Orphanet:100021" NCBITaxon:29930 "GC_ID:1" -MONDO:0012658 "Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness." "UMLS:C1969652 DOID:0110975 ICD10:Q73.8 Orphanet:140908 OMIM:611377 SCTID:770406002" +MONDO:0012658 "Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness." "UMLS:C1969652 DOID:0110975 ICD10CM:Q73.8 Orphanet:140908 OMIM:611377 SCTID:770406002" MONDO:0012310 "OMIM:609612 UMLS:C1865040 Orphanet:45358" MONDO:0012576 "Orphanet:240071 Orphanet:683 OMIM:610898 MESH:C567050 UMLS:C1970476" http://identifiers.org/hgnc/9603 UBERON:0005417 -MONDO:0007201 "Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II)." "GARD:0000023 DOID:14778 SCTID:715391004 OMIM:110100 MESH:C562419 UMLS:C0220663 ICD10:Q10.3 Orphanet:126" +MONDO:0007201 "Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II)." "GARD:0000023 DOID:14778 SCTID:715391004 OMIM:110100 MESH:C562419 UMLS:C0220663 ICD10CM:Q10.3 Orphanet:126" CHEBI:75324 "A generally pharmacologically inactive substance that is formulated with the active ingredient of a medication." MONDO:0032802 "OMIM:618533" -MONDO:0100354 "UMLS:C1608393 OMIM:249210 NCIT:C98982 UMLS:C1835084 UMLS:C0266833 Orphanet:2604 ICD10:Q43.8 Orphanet:2241 GARD:0003442 MESH:C536138 DOID:0060610 SCTID:253781004" -MONDO:0013775 "ICD10:D68.3 OMIM:614486 Orphanet:436169 UMLS:C3280976 MESH:C566057" +MONDO:0100354 "UMLS:C1608393 OMIM:249210 NCIT:C98982 UMLS:C1835084 UMLS:C0266833 Orphanet:2604 ICD10CM:Q43.8 Orphanet:2241 GARD:0003442 MESH:C536138 DOID:0060610 SCTID:253781004" +MONDO:0013775 "OMIM:614486 ICD10CM:D68.3 Orphanet:436169 UMLS:C3280976 MESH:C566057" http://identifiers.org/hgnc/6008 MONDO:0011378 "OMIM:603855" http://identifiers.org/hgnc/13517 GO:0005761 "A ribosome found in the mitochondrion of a eukaryotic cell; contains a characteristic set of proteins distinct from those of cytosolic ribosomes." UBERON:0010379 -MONDO:0019639 "Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection." "Orphanet:93109 ICD9:753.3 ICD10:Q63.8 SCTID:85901000" +MONDO:0019639 "Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection." "ICD10CM:Q63.8 Orphanet:93109 ICD9:753.3 SCTID:85901000" MONDO:0015282 "Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985." "UMLS:C2931548 Orphanet:1345 MESH:C537616 GARD:0001102 SCTID:720609003" CL:0000679 "WBbt:0006829" -MONDO:0015573 "Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced." "SCTID:239891002 MedDRA:10057903 UMLS:C0024140 NCIT:C117111 Orphanet:163525 ICD10:L93.1" +MONDO:0015573 "Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced." "SCTID:239891002 MedDRA:10057903 UMLS:C0024140 NCIT:C117111 Orphanet:163525 ICD10CM:L93.1" UBERON:0004219 http://identifiers.org/hgnc/18672 NCBITaxon:2731360 "GC_ID:1" CL:2000010 "Any blood vessel endothelial cell that is part of a dermis." -MONDO:0017570 "Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections." "NCIT:C27874 OMIM:612840 OMIM:266265 UMLS:C0272187 ICD10:D84.8 DOID:6612 OMIM:116920 GARD:0009544 UMLS:C0398738 SCTID:77358003 Orphanet:2968" +MONDO:0017570 "Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections." "NCIT:C27874 OMIM:612840 OMIM:266265 ICD10CM:D84.8 UMLS:C0272187 DOID:6612 OMIM:116920 GARD:0009544 UMLS:C0398738 SCTID:77358003 Orphanet:2968" PATO:0002422 "Pertaining to the individual parts making up an aggregate fruit like a many-lobed \"berry,\" such as a raspberry." -MONDO:0003792 "A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." "Orphanet:213512 EFO:1000412 ONCOTREE:OCS UMLS:C0392998 SCTID:702368000 GARD:0007296 NCIT:C9192 ICD10:C56 DOID:6170" -MONDO:0006260 "A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." "MedDRA:10064886 Orphanet:319319 GARD:0013175 ONCOTREE:MRC ICD10:C64 NCIT:C7572 UMLS:CN203938 EFO:1000314" -MONDO:0014202 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene." "UMLS:C3809634 OMIM:615481 ICD10:Q34.8 DOID:0110628" -MONDO:0009550 "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." "SCTID:725033008 ICD10:E83.4 DOID:0060880 MESH:C537153 Orphanet:31043 OMIM:248250" +MONDO:0003792 "A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements." "Orphanet:213512 EFO:1000412 ONCOTREE:OCS UMLS:C0392998 SCTID:702368000 GARD:0007296 ICD10CM:C56 NCIT:C9192 DOID:6170" +MONDO:0006260 "A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis." "MedDRA:10064886 Orphanet:319319 ICD10CM:C64 GARD:0013175 ONCOTREE:MRC NCIT:C7572 UMLS:CN203938 EFO:1000314" +MONDO:0014202 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene." "UMLS:C3809634 OMIM:615481 DOID:0110628" +MONDO:0009550 "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." "SCTID:725033008 ICD10CM:E83.4 DOID:0060880 MESH:C537153 Orphanet:31043 OMIM:248250" http://identifiers.org/hgnc/7207 MONDO:0013874 "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene." "NCIT:C131452 UMLS:C3553587 Orphanet:361 OMIM:614736" ENVO:01001091 "A process during which microscopic liquid droplets are formed from gaseous materials in an atmosphere." @@ -32603,24 +32582,24 @@ MONDO:0012577 "OMIM:610906" UBERON:0015010 MONDO:0012311 "MESH:C566507 OMIM:609616 UMLS:C1865022" http://identifiers.org/hgnc/11119 -MONDO:0001672 "A malignant neoplasm involving the bronchus" "SCTID:363493006 ICD10:C34 ICD9:162.8 DOID:1325 ICD9:162.9 ICD10:C34.9" +MONDO:0001672 "A malignant neoplasm involving the bronchus" "SCTID:363493006 ICD9:162.8 DOID:1325 ICD9:162.9" UBERON:0005418 -MONDO:0015467 "Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A." "Orphanet:1527 SCTID:720818003 OMIM:185900 ICD10:Q87.0 GARD:0001601" +MONDO:0015467 "Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A." "Orphanet:1527 SCTID:720818003 OMIM:185900 GARD:0001601 ICD10CM:Q87.0" MONDO:0044339 "Any degenerative disorder affecting one or more vertebral discs of the lumbar spine." "NCIT:C27154 EFO:0004994 SCTID:26538006 MESH:C535531 OMIM:603932" MONDO:0011115 "MESH:C566652 UMLS:C1866619 OMIM:601608" -MONDO:0009476 "Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases." "OMIM:243600 GARD:0000140 MedDRA:10010626 NCIT:C98828 ICD10:Q41.1 ICD10:Q41.2 GARD:0006799 ICD10:Q41.9 UMLS:C0266172 ICD10:Q41.0 Orphanet:1201 ICD10:Q41.8 MESH:C538260" +MONDO:0009476 "Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases." "OMIM:243600 GARD:0000140 ICD10CM:Q41.2 MedDRA:10010626 NCIT:C98828 ICD10CM:Q41.1 GARD:0006799 ICD10CM:Q41.9 UMLS:C0266172 ICD10CM:Q41.0 Orphanet:1201 MESH:C538260 ICD10CM:Q41.8" HP:0001965 "Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows." "UMLS:C4025734" MONDO:0013510 "OMIM:613972 Orphanet:618" GO:0043457 "Any process that modulates the frequency, rate or extent of cellular respiration, the enzymatic release of energy from organic compounds." MONDO:0032805 "OMIM:618541" -MONDO:0019137 "Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations." "ICD10:G47.2 SCTID:230496009 ICD10:G47.24 Orphanet:73267 GARD:0010949" -MONDO:0013304 "Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF)." "DOID:0060574 Orphanet:166090 Orphanet:166081 Orphanet:166093 Orphanet:166084 MESH:D056728 ICD10:D68.0 UMLS:C1282971 Orphanet:903 Orphanet:166087 SCTID:128107007 UMLS:C1282974 UMLS:C1282968 OMIM:613554 UMLS:C1264040 UMLS:C1282975" +MONDO:0019137 "Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations." "ICD10CM:G47.24 SCTID:230496009 ICD10CM:G47.2 Orphanet:73267 GARD:0010949" +MONDO:0013304 "Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF)." "DOID:0060574 Orphanet:166090 Orphanet:166081 Orphanet:166093 Orphanet:166084 MESH:D056728 UMLS:C1282971 Orphanet:903 Orphanet:166087 SCTID:128107007 UMLS:C1282974 UMLS:C1282968 OMIM:613554 UMLS:C1264040 ICD10CM:D68.0 UMLS:C1282975" GO:0055092 "Any process involved in the maintenance of an internal steady state of sterol within an organism or cell." MONDO:0014628 "Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene." "Orphanet:1980 OMIM:616413 UMLS:C4225335" MONDO:0700065 "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number." "NCIT:C3421 GARD:0006065" -MONDO:0008622 "Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." "ICD10:Q82.4 OMIM:191482 Orphanet:1264 SCTID:719910004 UMLS:C1860605 GARD:0000938 MESH:C536576" +MONDO:0008622 "Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." "OMIM:191482 Orphanet:1264 ICD10CM:Q82.4 SCTID:719910004 UMLS:C1860605 GARD:0000938 MESH:C536576" MONDO:0012578 "OMIM:610908" -MONDO:0010434 "Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name)." "UMLS:C0039101 MESH:D013584 DOID:5485 HP:0012570 SCTID:302851001 EFO:0001376 ICD10:C49.9 ONCOTREE:SYNS ICDO:9040/3 OMIM:300813 GARD:0007721 Orphanet:3273 NCIT:C3400 ICD9:171.9 MedDRA:10042863" +MONDO:0010434 "Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name)." "UMLS:C0039101 MESH:D013584 DOID:5485 HP:0012570 SCTID:302851001 EFO:0001376 ONCOTREE:SYNS ICDO:9040/3 OMIM:300813 ICD10CM:C49.9 GARD:0007721 Orphanet:3273 NCIT:C3400 ICD9:171.9 MedDRA:10042863" MONDO:0014941 "OMIM:617146 UMLS:C4310692" UBERON:0005419 MONDO:0025013 "Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini." "UMLS:C0242634 MESH:D018419" @@ -32631,37 +32610,37 @@ CL:2000029 "Any neuron that is part of a central nervous system." UBERON:0009114 http://identifiers.org/hgnc/11118 http://identifiers.org/hgnc/21191 -MONDO:0019536 "Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli." "ICD10:D59.3 UMLS:CN206363 OMIM:235400 GARD:0006241 Orphanet:90038" +MONDO:0019536 "Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli." "ICD10CM:D59.3 UMLS:CN206363 OMIM:235400 GARD:0006241 Orphanet:90038" MONDO:0060752 "OMIM:618076" http://identifiers.org/hgnc/18674 CHEBI:50967 "Systems consisting of two or more molecular entities held together by non-covalent interactions." MONDO:0013511 "Orphanet:280615 OMIM:613977 UMLS:C3151421" MONDO:0032804 "DOID:0111651 OMIM:618535" -MONDO:0011114 "UMLS:C1275122 ICD10:D23.3 SCTID:403825008 Orphanet:79493 OMIM:601606 Orphanet:867 GARD:0010867 OMIM:612099" +MONDO:0011114 "UMLS:C1275122 SCTID:403825008 Orphanet:79493 OMIM:601606 Orphanet:867 ICD10CM:D23.3 GARD:0010867 OMIM:612099" MONDO:0007629 "OMIM:136540 UMLS:C1850987" http://identifiers.org/hgnc/6006 -MONDO:0010702 "Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." "MESH:D009958 NCIT:C75481 MESH:C537134 SCTID:52868006 Orphanet:2750 ICD10:Q87.0 GARD:0004121 SCTID:1779005 UMLS:C2698658 UMLS:C1510460 OMIM:311200 DOID:0060316 SCTID:763833006" +MONDO:0010702 "Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." "MESH:D009958 NCIT:C75481 MESH:C537134 SCTID:52868006 ICD10CM:Q87.0 Orphanet:2750 GARD:0004121 SCTID:1779005 UMLS:C2698658 UMLS:C1510460 OMIM:311200 DOID:0060316 SCTID:763833006" GO:0012506 "The lipid bilayer surrounding any membrane-bounded vesicle in the cell." GO:0036094 "Binding to a small molecule, any low molecular weight, monomeric, non-encoded molecule." GO:0071310 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus." MONDO:0009518 "Any leprosy in which the cause of the disease is a mutation in the TLR2 gene." "Orphanet:548 OMIM:246300" http://identifiers.org/hgnc/17210 MONDO:0014940 "OMIM:617145 UMLS:C4310693" -MONDO:0015339 "An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN." "Orphanet:139399 OMIM:300100 UMLS:C1527231 ICD10:E71.3 GARD:0010614 SCTID:65389002" -MONDO:0006788 "Abnormal enlargement of the eye" "MESH:D006871 EFO:1000968 ICD9:743.20 ICD9:743.2 DOID:11212 ICD10:Q15.0 SCTID:204113001" +MONDO:0015339 "An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN." "ICD10CM:E71.3 Orphanet:139399 OMIM:300100 UMLS:C1527231 GARD:0010614 SCTID:65389002" +MONDO:0006788 "Abnormal enlargement of the eye" "MESH:D006871 EFO:1000968 ICD9:743.20 ICD9:743.2 DOID:11212 SCTID:204113001" UBERON:0005412 -MONDO:0018959 "Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia." "UMLS:C2931826 ICD10:G71.1 OMIM:608390 NCIT:C122788 SCTID:702355008 Orphanet:612 MESH:C538353 GARD:0004459" +MONDO:0018959 "Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia." "UMLS:C2931826 OMIM:608390 NCIT:C122788 ICD10CM:G71.1 SCTID:702355008 Orphanet:612 MESH:C538353 GARD:0004459" MONDO:0003103 "Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression." "UMLS:C1334946 NCIT:C5119 DOID:4698" GO:0008212 "The chemical reactions and pathways involving mineralocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. Mineralocorticoids act primarily on water and electrolyte balance." MONDO:0006847 "Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." "EFO:1001032" MONDO:0024525 "Orphanet:3337 OMIM:134600" -MONDO:0018647 "UMLS:C0400978 Orphanet:447774 SCTID:197442005 ICD10:K83.0" +MONDO:0018647 "UMLS:C0400978 Orphanet:447774 SCTID:197442005 ICD10CM:K83.0" NCBITaxon:5820 "GC_ID:1" -MONDO:0003414 "A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites." "SCTID:307610008 Orphanet:499182 ICD10:C44.3 UMLS:C0585475 NCIT:C4114 DOID:5376 ICDO:8110/3 ICD10:C44.4" +MONDO:0003414 "A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites." "SCTID:307610008 Orphanet:499182 UMLS:C0585475 NCIT:C4114 DOID:5376 ICDO:8110/3" MONDO:0006720 "Neoplasms containing cyst-like formations or producing mucin or serum." "MESH:D018297 EFO:1000889" HP:0003677 "Applies to a disease manifestation that only slowly increases in scope or severity over the course of time." "UMLS:C1854494" http://identifiers.org/hgnc/26929 -MONDO:0015430 "Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly." "GARD:0001320 MESH:C535361 SCTID:47017007 Orphanet:1437 ICD10:Q93.2 NCIT:C36474 GTR:AN0102272 UMLS:CN036412" +MONDO:0015430 "Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly." "GARD:0001320 ICD10CM:Q93.2 MESH:C535361 SCTID:47017007 Orphanet:1437 NCIT:C36474 GTR:AN0102272 UMLS:CN036412" CHEBI:60466 "Zwitterionic form of any peptide where, in general, the amino terminus is positively charged and the carboxy terminus is negatively charged." MONDO:0003094 NCBITaxon:1980491 "GC_ID:1" @@ -32677,10 +32656,10 @@ NCIT:C36807 http://identifiers.org/hgnc/12572 http://identifiers.org/hgnc/13771 NCBITaxon:6183 "GC_ID:1" -MONDO:0007233 "A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck." "Orphanet:141022 ICD10:Q18.0 NCIT:C104813 OMIM:113600 SCTID:73381000119100" +MONDO:0007233 "A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck." "Orphanet:141022 NCIT:C104813 ICD10CM:Q18.0 OMIM:113600 SCTID:73381000119100" MONDO:0100358 -MONDO:0009320 "Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." "UMLS:C1856198 Orphanet:2107 SCTID:721008000 GARD:0002586 MESH:C535623 ICD10:Q87.8 OMIM:234250" -MONDO:0015787 "A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII." "ICD10:D66 UMLS:CN200369 Orphanet:177926" +MONDO:0009320 "Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." "UMLS:C1856198 Orphanet:2107 SCTID:721008000 GARD:0002586 ICD10CM:Q87.8 MESH:C535623 OMIM:234250" +MONDO:0015787 "A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII." "ICD10CM:D66 UMLS:CN200369 Orphanet:177926" http://identifiers.org/hgnc/26927 http://identifiers.org/hgnc/1377 NCBITaxon:1980490 "GC_ID:1" @@ -32691,18 +32670,18 @@ ENVO:02500003 "A process which occurs within an atmosphere." MONDO:0019843 "UMLS:CN206787 Orphanet:95617" UBERON:0004215 CHEBI:51570 "Compounds containing a biotin (5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoic acid) skeleton." -MONDO:0001798 "ICD9:728.5 SCTID:85551004 UMLS:C0152093 DOID:13781 ICD10:M35.7" -MONDO:0015455 "Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery." "ICD10:A54.3+ SCTID:231858009 NCIT:C116816 ICD10:H13.1* ICD10:A54.31 GARD:0002546 Orphanet:1482" -MONDO:0007904 "Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." "Orphanet:2699 UMLS:C1835396 ICD10:Q18.8 OMIM:151630 SCTID:722034006 GARD:0003440" +MONDO:0001798 "ICD9:728.5 SCTID:85551004 UMLS:C0152093 ICD10CM:M35.7 DOID:13781" +MONDO:0015455 "Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery." "ICD10EXP:A54.3+ ICD10EXP:H13.1* SCTID:231858009 ICD10CM:A54.31 NCIT:C116816 GARD:0002546 Orphanet:1482" +MONDO:0007904 "Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." "Orphanet:2699 UMLS:C1835396 OMIM:151630 SCTID:722034006 ICD10CM:Q18.8 GARD:0003440" UBERON:0035505 -MONDO:0008934 "Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." "OMIM:212835 MESH:C535350 Orphanet:1174 UMLS:C1859306 ICD10:G11.1 GARD:0001189 SCTID:715371006" -MONDO:0001530 "UMLS:C0271847 SCTID:19034001 ICD9:588.81 ICD10:N25.81 DOID:12465" +MONDO:0008934 "Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." "OMIM:212835 MESH:C535350 Orphanet:1174 ICD10CM:G11.1 UMLS:C1859306 GARD:0001189 SCTID:715371006" +MONDO:0001530 "UMLS:C0271847 SCTID:19034001 ICD9:588.81 ICD10CM:N25.81 DOID:12465" http://identifiers.org/hgnc/2578 MONDO:0004321 "An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor." "DOID:7664 UMLS:C1516856 NCIT:C40153" GO:0048469 "A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state." NCBITaxon:6182 "GC_ID:1" http://identifiers.org/hgnc/2312 -MONDO:0018645 "ICD10:K83.0 Orphanet:447764 UMLS:C4302109 SCTID:722870008" +MONDO:0018645 "Orphanet:447764 UMLS:C4302109 SCTID:722870008 ICD10CM:K83.0" http://identifiers.org/hgnc/29420 MONDO:0004438 "A carcinoma that arises from the breast and is not caused by inherited genetic mutations." "DOID:8029 UMLS:C1336076 NCIT:C7566" MONDO:0032801 "OMIM:618531" @@ -32710,15 +32689,15 @@ CHEBI:33661 http://identifiers.org/hgnc/26926 UBERON:0004216 GO:0006796 "The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid." -MONDO:0019194 "Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body." "ICD10:E88.1 NCIT:C131814 GARD:0005867 Orphanet:79088 UMLS:C4329999 UMLS:CN227583" +MONDO:0019194 "Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body." "NCIT:C131814 GARD:0005867 ICD10CM:E88.1 Orphanet:79088 UMLS:C4329999 UMLS:CN227583" http://identifiers.org/hgnc/3775 -MONDO:0004632 "OBSOLETE. An obsolete term referring to Hodgkin lymphoma." "ICD10:C81.9 ICD10:C81.0 MESH:D006689 ICDO:9661/3 ICD10:C81.3 NCIT:C6913 DOID:8651 ICD10:C81.2 NCIT:C3517 NCIT:C26956 ICD9:201.0 ICD9:201 SCTID:118607005 SCTID:118610003 NCIT:C6914 ICD9:201.7 ICD9:201.2 ICD10:C81 SCTID:118609008 NCIT:C9357 ICD9:201.4 ICD9:201.1 ICD9:201.9 ICD10:C81.4 SCTID:118602004 ICD9:201.6" -MONDO:0017768 "Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy)." "NCIT:C85041 ICD9:345.10 UMLS:C0270857 SCTID:79745005 ICD10:G40.8 DOID:2548 MESH:D020195 EFO:1001146 Orphanet:310" +MONDO:0004632 "OBSOLETE. An obsolete term referring to Hodgkin lymphoma." "MESH:D006689 ICDO:9661/3 NCIT:C6913 DOID:8651 NCIT:C3517 NCIT:C26956 ICD9:201.0 ICD9:201 SCTID:118607005 SCTID:118610003 NCIT:C6914 ICD9:201.7 ICD9:201.2 SCTID:118609008 NCIT:C9357 ICD9:201.1 ICD9:201.4 ICD9:201.9 SCTID:118602004 ICD9:201.6" +MONDO:0017768 "Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy)." "NCIT:C85041 ICD9:345.10 UMLS:C0270857 SCTID:79745005 DOID:2548 ICD10CM:G40.8 MESH:D020195 EFO:1001146 Orphanet:310" http://identifiers.org/hgnc/2577 -MONDO:0019554 "Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc)." "ICD10:E88.1 Orphanet:90158 UMLS:CN227650" +MONDO:0019554 "Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc)." "ICD10CM:E88.1 Orphanet:90158 UMLS:CN227650" MONDO:0002465 "Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath." "UMLS:C0006271 SCTID:4120002 NCIT:C39658 ICD9:466.19 MESH:D001988 HP:0011950 DOID:2942" NCBITaxon:6181 "GC_ID:1" -MONDO:0007338 "Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate." "DOID:0110214 Orphanet:99772 OMIM:119570 ICD10:Q35.3 MESH:C562950 SCTID:253997002" +MONDO:0007338 "Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate." "DOID:0110214 Orphanet:99772 OMIM:119570 MESH:C562950 SCTID:253997002 ICD10CM:Q35.3" MONDO:0004988 "A carcinoma that arises from glandular epithelial cells of the breast" "EFO:0000304 DOID:3458 NCIT:C5214" MONDO:0002865 "A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma." "UMLS:C1332277 NCIT:C5611 DOID:4067" MONDO:0024524 "UMLS:C2675711 Orphanet:241 MESH:C567273 OMIM:127500" @@ -32727,9 +32706,9 @@ MONDO:0032800 "OMIM:618529" http://identifiers.org/hgnc/3776 UBERON:0004217 HP:0001697 "An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery." "UMLS:C4025754 Fyler:1900" -MONDO:0017448 "OMIM:102650 ICD10:Q71.3 Orphanet:294990" +MONDO:0017448 "OMIM:102650 ICD10CM:Q71.3 Orphanet:294990" MONDO:0001031 "Acute form of suppurative otitis media." "DOID:10435 UMLS:C0271431 SCTID:194281003 ICD9:382.02" -MONDO:0019845 "Orphanet:95619 ICD10:E23.1" +MONDO:0019845 "Orphanet:95619 ICD10CM:E23.1" UBERON:0006872 GO:0004175 "Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain." MONDO:0001796 @@ -32740,7 +32719,7 @@ http://identifiers.org/hgnc/24529 NCIT:C49163 MONDO:0100137 "Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths." UBERON:0007811 -MONDO:0018643 "ICD10:D71 Orphanet:447740" +MONDO:0018643 "ICD10CM:D71 Orphanet:447740" UBERON:0022351 MONDO:0002632 "A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites." "NCIT:C38157 DOID:3379 UMLS:C1334704" MONDO:0100271 "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene." @@ -32749,32 +32728,32 @@ UBERON:0004476 MONDO:0042458 "An disease or disorder caused by infection with Trichinella spiralis." "UMLS:C3887668 SCTID:88264003" http://identifiers.org/hgnc/12310 MONDO:0008666 "A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction." "OMIM:193250 MESH:C562456 SCTID:458422009 Orphanet:2454 NCIT:C98961" -MONDO:0009155 "EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1)." "SCTID:720856002 ICD10:Q87.8 MESH:C536190 DOID:0111649 Orphanet:1897 OMIM:225280 GARD:0002078" -MONDO:0017853 "Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized." "ICD10:J67.9 ICD10:J67.8 ICD10:J67.7 ICD10:J67.4 MedDRA:10001890 GARD:0000012 Orphanet:31740 ICD10:J67.5 ICD10:J67.1 ICD10:J67.0 ICD9:495.8 ICD9:495.9 SCTID:37471005 ICD10:J67.6 ICD10:J67.2 ICD10:J67.3" -MONDO:0017445 "SCTID:371199008 Orphanet:294983 ICD10:Q71.3" +MONDO:0009155 "EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1)." "SCTID:720856002 MESH:C536190 DOID:0111649 Orphanet:1897 OMIM:225280 GARD:0002078 ICD10CM:Q87.8" +MONDO:0017853 "Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized." "ICD9:495.8 ICD10CM:J67.7 SCTID:37471005 ICD10CM:J67.3 GARD:0000012 ICD10CM:J67.1 ICD10CM:J67.0 ICD10CM:J67.9 ICD10CM:J67.8 Orphanet:31740 ICD9:495.9 ICD10CM:J67.5 ICD10CM:J67.4 ICD10CM:J67.2 ICD10CM:J67.6 MedDRA:10001890" +MONDO:0017445 "SCTID:371199008 Orphanet:294983" CHEBI:35703 "A xenobiotic (Greek, xenos \"foreign\"; bios \"life\") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means." UBERON:0001716 -MONDO:0007710 "Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved." "GARD:0007338 Orphanet:1214 ICD10:G51.8 NCIT:C84703 NCIT:C116916 DOID:1757 OMIM:141300 UMLS:C0015458 SCTID:718224004 MESH:D005150" +MONDO:0007710 "Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved." "GARD:0007338 Orphanet:1214 NCIT:C84703 ICD10CM:G51.8 NCIT:C116916 DOID:1757 OMIM:141300 UMLS:C0015458 SCTID:718224004 MESH:D005150" http://identifiers.org/hgnc/2579 http://identifiers.org/hgnc/4976 UBERON:0003278 -MONDO:0013115 "RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." "UMLS:C2751321 SCTID:723367005 MESH:C567770 Orphanet:217335 OMIM:613075 ICD10:Q82.8" -MONDO:0018644 "ICD10:G11.4 Orphanet:447757 UMLS:CN237702" +MONDO:0013115 "RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported." "SCTID:723367005 UMLS:C2751321 MESH:C567770 Orphanet:217335 ICD10CM:Q82.8 OMIM:613075" +MONDO:0018644 "Orphanet:447757 UMLS:CN237702 ICD10CM:G11.4" MONDO:0003005 "Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision." "UMLS:C0271051 NCIT:C35468 DOID:4449 SCTID:37231002" MONDO:0016247 NCBITaxon:6187 "GC_ID:1" -MONDO:0017667 "A diffuse palmoplantar keratoderma that is not part of a larger syndrome." "ICD10:Q82.8 UMLS:C0022584 Orphanet:307148" +MONDO:0017667 "A diffuse palmoplantar keratoderma that is not part of a larger syndrome." "ICD10CM:Q82.8 UMLS:C0022584 Orphanet:307148" MONDO:0060758 "OMIM:618087" http://identifiers.org/hgnc/29427 http://identifiers.org/hgnc/3512 http://identifiers.org/hgnc/3778 CL:0000048 "A stem cell that can give rise to multiple lineages of cells." "FMA:84789" -MONDO:0017446 "Orphanet:294986 ICD10:Q72.3 SCTID:371197005" +MONDO:0017446 "Orphanet:294986 SCTID:371197005" MONDO:0002998 "A meningioma that arises from the skull base." "UMLS:C1335976 DOID:4437 NCIT:C5272" MONDO:0019112 "Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins." "Orphanet:71505 SCTID:404663008 MESH:D059545 ICD9:362.10" UBERON:0004211 MONDO:0002992 -MONDO:0001624 "Acute form of sphenoid sinusitis." "DOID:13046 SCTID:77919000 ICD10:J01.30 UMLS:C0155807 ICD9:461.3 ICD10:J01.3" +MONDO:0001624 "Acute form of sphenoid sinusitis." "DOID:13046 SCTID:77919000 ICD10CM:J01.3 UMLS:C0155807 ICD9:461.3" HP:0010719 "An abnormality of the texture of the hair." "UMLS:C4073290 UMLS:C4072881 UMLS:C4072880 UMLS:C4023722" CHEBI:26536 "A retinoid consisting of 3,7-dimethylnona-2,4,6,8-tetraenoic acid substituted at position 9 by a 2,6,6-trimethylcyclohex-1-en-1-yl group (geometry of the four exocyclic double bonds is not specified)." MONDO:0011373 "OMIM:603806" @@ -32789,14 +32768,14 @@ UBERON:0005410 HP:0001156 "Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here." "SNOMEDCT_US:43476002 MSH:D059327 UMLS:C0221357" MONDO:0024527 "OMIM:137950 Orphanet:84090" HP:0011893 "Number of leukocytes per volume of blood beyond normal limits." "SNOMEDCT_US:165509000 UMLS:C0580531" -MONDO:0019497 "A disease characterized by hearing loss that is not part of a larger syndrome." "DOID:0050563 EFO:0009076 GARD:0006410 MESH:C580334 UMLS:CN043648 Orphanet:87884 ICD10:H90.5" +MONDO:0019497 "A disease characterized by hearing loss that is not part of a larger syndrome." "DOID:0050563 EFO:0009076 GARD:0006410 MESH:C580334 UMLS:CN043648 Orphanet:87884" MONDO:0012852 "An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24." "UMLS:C2676781 OMIM:612288 DOID:0110898 MESH:C567361" MONDO:0012267 "A holoprosencephaly that has material basis in variation in the chromosome region 14q13." "OMIM:609408 UMLS:C1836254 MESH:C563723 DOID:0110879 Orphanet:2162" -MONDO:0010001 "Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait." "UMLS:C1849332 GARD:0000293 OMIM:268320 ICD10:Q87.8 Orphanet:1806 MESH:C535865" +MONDO:0010001 "Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait." "UMLS:C1849332 GARD:0000293 OMIM:268320 ICD10CM:Q87.8 Orphanet:1806 MESH:C535865" UBERON:0004478 MONDO:0044621 "16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers." "Orphanet:485405" -MONDO:0034846 "A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation." "Orphanet:565641 ICD10:K59.9" -MONDO:0001791 "ICD9:771.82 ICD10:P39.3 DOID:1375 SCTID:12301009 UMLS:C0235815" +MONDO:0034846 "A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation." "ICD10CM:K59.9 Orphanet:565641" +MONDO:0001791 "ICD9:771.82 DOID:1375 SCTID:12301009 UMLS:C0235815" CL:0000811 "An immature alpha-beta T cell that is located in the thymus and is CD8-positive and CD4-negative." http://identifiers.org/hgnc/3513 MONDO:0010175 "UMLS:C1848598 MESH:C536526 GARD:0008415 OMIM:277150" @@ -32804,13 +32783,13 @@ MONDO:0019842 UBERON:0004212 UBERON:0006877 UBERON:0035508 -MONDO:0015048 "OMIM:613211 MESH:C536606 OMIM:614832 SCTID:109475005 Orphanet:100033 ICD9:520.5 OMIM:612529 ICD10:K00.5 OMIM:617217 OMIM:615887 OMIM:301200 GARD:0008349 OMIM:204700" -MONDO:0005012 "A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." "UMLS:C0153536 ICD9:172.8 ICD9:172.4 OMIM:155600 OMIM:612263 OMIM:613972 ICD9:172 ICD10:C43.4 OMIM:615848 UMLS:C0151779 ICD9:172.3 OMIM:608035 NCIT:C3510 ONCOTREE:SKCM EFO:0000389 ICD10:C43 ICD9:172.5 ICD10:C43.0 OMIM:614456 ICD9:172.2 SCTID:93655004 OMIM:609048 UMLS:C0153535 ICD9:172.9 OMIM:615134 ICD10:C43.9 DOID:8923 ICD9:172.0 HP:0012056 ICD10:C43.2 OMIM:613099" -MONDO:0005851 "An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia." "ICD10:G61.0 MedDRA:10049567 UMLS:C0393799 MESH:D019846 SCTID:1767005 NCIT:C116958 GARD:0003668 DOID:12889 EFO:0007371 Orphanet:98919" +MONDO:0015048 "OMIM:613211 MESH:C536606 OMIM:614832 SCTID:109475005 Orphanet:100033 ICD9:520.5 OMIM:612529 OMIM:617217 OMIM:615887 OMIM:301200 GARD:0008349 ICD10CM:K00.5 OMIM:204700" +MONDO:0005012 "A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma." "UMLS:C0153536 ICD9:172.8 ICD9:172.4 ICD9:172 UMLS:C0151779 ICD9:172.3 NCIT:C3510 ONCOTREE:SKCM EFO:0000389 ICD9:172.5 ICD9:172.2 SCTID:93655004 ICD9:172.9 ICD9:172.0 DOID:8923 UMLS:C0153535 HP:0012056" +MONDO:0005851 "An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia." "MedDRA:10049567 UMLS:C0393799 MESH:D019846 SCTID:1767005 NCIT:C116958 GARD:0003668 DOID:12889 EFO:0007371 Orphanet:98919 ICD10CM:G61.0" GO:1902600 "The directed movement of a proton across a membrane." MONDO:0000593 MONDO:0011372 "MESH:C566332 UMLS:C1863516 OMIM:603802" -MONDO:0013402 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene." "DOID:0110397 OMIM:613750 UMLS:C1834329 MESH:C563526 ICD10:H35.5" +MONDO:0013402 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene." "DOID:0110397 OMIM:613750 UMLS:C1834329 MESH:C563526" MONDO:0000508 "A intellectual disability that is part of a larger syndrome." "UMLS:CN225415 OMIM:309583 OMIM:300486 OMIM:300860 DOID:0050888" UBERON:0005411 GO:0034765 "Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other." @@ -32819,21 +32798,21 @@ UBERON:0005677 MONDO:0013520 "A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1." "Orphanet:1775 OMIM:613988 UMLS:C3151442 DOID:0070019" UBERON:0022350 http://identifiers.org/hgnc/11110 -MONDO:0004272 "A tuberculosis that involves the urinary bladder." "ICD9:016.14 DOID:754 ICD10:A18.12 UMLS:C0152793 SCTID:32268008 ICD9:016.1 ICD9:016.10" +MONDO:0004272 "A tuberculosis that involves the urinary bladder." "ICD9:016.14 DOID:754 UMLS:C0152793 SCTID:32268008 ICD9:016.1 ICD9:016.10" MONDO:0016245 CHR:9606-chr4p1 HP:0009763 "Chronic pain in the limbs with no clear focal etiology." "UMLS:C0030196 SNOMEDCT_US:90834002" -MONDO:0005682 "Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain." "MESH:D001996 NCIT:C26710 UMLS:C0006285 ICD9:485 SCTID:396285007 DOID:12375 EFO:0007184 ICD10:J18.0" +MONDO:0005682 "Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain." "MESH:D001996 NCIT:C26710 UMLS:C0006285 ICD9:485 SCTID:396285007 DOID:12375 EFO:0007184" RO:0002577 "A material entity consisting of multiple components that are causally integrated." UBERON:0004479 UBERON:0002916 -MONDO:0001792 "ICD9:375.22 DOID:13756 UMLS:C0155234 ICD10:H04.22 SCTID:85042000" +MONDO:0001792 "ICD9:375.22 DOID:13756 UMLS:C0155234 SCTID:85042000" MONDO:0024529 "Orphanet:741 OMIM:157700 GARD:0003688 UMLS:CN074267" -MONDO:0019841 "Orphanet:95611 ICD10:E23.0" +MONDO:0019841 "Orphanet:95611 ICD10CM:E23.0" UBERON:0006876 PATO:0000586 "A size quality which is relatively high." -MONDO:0017444 "ICD10:Q72.2 Orphanet:294981 SCTID:278532000" -MONDO:0015047 "OMIM:616270 OMIM:104500 OMIM:104530 ICD10:K00.5 Orphanet:100031 SCTID:109476006 OMIM:301201 OMIM:616221 ICD9:520.5 OMIM:204650 OMIM:617297" +MONDO:0017444 "Orphanet:294981 ICD10CM:Q72.2 SCTID:278532000" +MONDO:0015047 "OMIM:616270 OMIM:104500 OMIM:104530 ICD10CM:K00.5 Orphanet:100031 SCTID:109476006 OMIM:301201 OMIM:616221 ICD9:520.5 OMIM:204650 OMIM:617297" CHEBI:33563 "Any member of class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar part acylated by one or more fatty acids and the glycerol part may be absent." SO:1000030 "An interchromosomal mutation where a region of the chromosome is inverted with respect to wild type." http://identifiers.org/hgnc/4979 @@ -32841,31 +32820,31 @@ MONDO:0043923 "A chronic, autoimmune inflammatory condition of the mucous membra CL:0002537 "A mesenchymal stem cell of the amnion membrane." MONDO:0045015 "A disease that has its basis in the disruption of carbohydrate transport." "SCTID:54905006 UMLS:C0268173" MONDO:0020199 "Orphanet:98611" -MONDO:0016030 "Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology." "GARD:0006389 MESH:C536380 NCIT:C61284 ICD10:D69.3 UMLS:C0272126 Orphanet:1959 ICD10:D69.41 DOID:8931 ICD9:287.32 SCTID:75331009 MedDRA:10053873" +MONDO:0016030 "Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology." "GARD:0006389 MESH:C536380 NCIT:C61284 ICD10CM:D69.3 UMLS:C0272126 ICD10CM:D69.41 Orphanet:1959 DOID:8931 ICD9:287.32 SCTID:75331009 MedDRA:10053873" MONDO:0000742 "DOID:0060314 SCTID:95892003" MONDO:0014285 "DOID:0111397 Orphanet:98869 OMIM:615631 UMLS:C3810185" MONDO:0009771 "Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive." "UMLS:C1850332 Orphanet:2718 MESH:C564934 SCTID:722062004 OMIM:257960" MONDO:0011525 "OMIM:605244 Orphanet:1359" -MONDO:0009240 "Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia." "GARD:0009279 DOID:0111679 UMLS:C0268609 SCTID:59761008 MESH:C537425 ICD9:270.8 ICD10:E70.8 OMIM:229100 Orphanet:51208" -MONDO:0011178 "Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence." "UMLS:C1865926 SCTID:715534008 MESH:C535522 Orphanet:31709 OMIM:602066 GARD:0008553 ICD10:G40.4 NCIT:C126650" +MONDO:0009240 "Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia." "GARD:0009279 DOID:0111679 UMLS:C0268609 SCTID:59761008 ICD10CM:E70.8 MESH:C537425 ICD9:270.8 OMIM:229100 Orphanet:51208" +MONDO:0011178 "Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence." "UMLS:C1865926 SCTID:715534008 MESH:C535522 Orphanet:31709 ICD10CM:G40.4 OMIM:602066 GARD:0008553 NCIT:C126650" HP:0002905 "An abnormally increased phosphate concentration in the blood." "UMLS:C0085681 MSH:D054559 UMLS:C0553706 SNOMEDCT_US:20165001" -MONDO:0018128 "Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure." "ICD10:M89.5 Orphanet:352636 UMLS:CN204506" +MONDO:0018128 "Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure." "Orphanet:352636 ICD10CM:M89.5 UMLS:CN204506" MONDO:0006182 "A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made." "EFO:1000219 ICDO:8244/3 NCIT:C95406 UMLS:C2987129" MONDO:0011526 "NCIT:C131650" -MONDO:0002033 "A malignant neoplasm involving the caecum" "UMLS:C0153437 NCIT:C9329 MESH:D002430 ICD10:C18.0 ICD9:153.4 DOID:1521" +MONDO:0002033 "A malignant neoplasm involving the caecum" "UMLS:C0153437 NCIT:C9329 MESH:D002430 ICD9:153.4 DOID:1521" http://identifiers.org/hgnc/10856 -MONDO:0016273 "A malignant germ cell tumor that involves the body of uterus." "ICD10:C54.1 ICD10:C54.0 ICD10:C54.8 UMLS:CN201062 ICD10:C54.2 Orphanet:213751 ICD10:C54.3" -MONDO:0001416 "A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma." "NCIT:C4913 ICD10:C51.C58 SCTID:126907002 DOID:120 ICD9:184 ICD10:C57 NCIT:C3053" -MONDO:0012199 "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene." "UMLS:C1852795 OMIM:609140 DOID:0110856 MESH:C565176 Orphanet:98973 ICD10:H18.50" +MONDO:0016273 "A malignant germ cell tumor that involves the body of uterus." "ICD10CM:C54.2 ICD10CM:C54.8 ICD10CM:C54.1 UMLS:CN201062 Orphanet:213751 ICD10CM:C54.0 ICD10CM:C54.3" +MONDO:0001416 "A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma." "NCIT:C4913 ICD10CM:C51-C58 SCTID:126907002 DOID:120 ICD9:184 NCIT:C3053" +MONDO:0012199 "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene." "UMLS:C1852795 OMIM:609140 DOID:0110856 MESH:C565176 Orphanet:98973" MONDO:0100068 "SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen." MONDO:0012722 "GARD:0010568 OMIM:611733 UMLS:C2673203 MESH:C567093" HP:0100658 "A bacterial infection and inflammation of the skin und subcutaneous tissues." "MSH:D002481 SNOMEDCT_US:128936008 UMLS:C0007642 UMLS:C0162627 SNOMEDCT_US:385627004 MSH:D017192 SNOMEDCT_US:128045006" NCBITaxon:10407 "GC_ID:1" -MONDO:0004748 "A disease involving the lip." "SCTID:90678009 MESH:D008047 ICD10:K13.0 UMLS:C0023760 NCIT:C26818 ICD9:528.5 DOID:9297" +MONDO:0004748 "A disease involving the lip." "SCTID:90678009 MESH:D008047 UMLS:C0023760 NCIT:C26818 ICD9:528.5 DOID:9297" GO:0044264 "The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells." MONDO:0003858 "A meningioma that affects the anterior visual pathway." "DOID:6334 UMLS:C1332308 NCIT:C7538" CL:0002199 "An oncocyte located in the parathyroid gland." "FMA:69084" -MONDO:0014020 "UMLS:C3539506 ICD10:G11.4 UMLS:C4510214 Orphanet:320375 SCTID:723825006 DOID:0110807 OMIM:615035" +MONDO:0014020 "UMLS:C3539506 UMLS:C4510214 ICD10CM:G11.4 Orphanet:320375 SCTID:723825006 DOID:0110807 OMIM:615035" MONDO:0030880 "OMIM:619127" GO:0035930 "The regulated release of any corticosteroid hormone into the circulatory system." MONDO:0017630 "An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain." "UMLS:CN203524 Orphanet:306617 GARD:0012525" @@ -32873,47 +32852,47 @@ NCBITaxon:11604 http://identifiers.org/hgnc/812 HP:0010766 "Deposition of calcium salts in a tissue or location in which calcification does not normally occur." "UMLS:C3806226" UBERON:0001096 -MONDO:0019186 "A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." "UMLS:C0034362 ICD10:A78 MedDRA:10037688 NCIT:C34970 MESH:D011778 EFO:0005224 GARD:0007515 Orphanet:781 DOID:11100 ICD9:083.0 SCTID:186788009 MedDRA:10037731" +MONDO:0019186 "A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness." "UMLS:C0034362 MedDRA:10037688 NCIT:C34970 MESH:D011778 EFO:0005224 GARD:0007515 Orphanet:781 DOID:11100 ICD9:083.0 SCTID:186788009 MedDRA:10037731 ICD10CM:A78" ENVO:01001619 "A material accumulation process during which a accumulation of snow and ice forms or increases in mass." MONDO:0010506 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene." "UMLS:C4283894 OMIM:300978" MONDO:0003725 "A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis." "NCIT:C3484 DOID:5998 EFO:0006891 UMLS:C0085750" -MONDO:0016062 "Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification." "Orphanet:2006 SCTID:723383005 ICD10:Q36.1" +MONDO:0016062 "Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification." "ICD10CM:Q36.1 Orphanet:2006 SCTID:723383005" UBERON:0004691 GO:0100021 "OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates iron ion transport." MONDO:0021171 "Classic form of Timothy syndrome, includes all features of generic." "SCTID:699256006 ICD9:759.89" MONDO:0013088 "OMIM:613024 Orphanet:545" UBERON:0002294 -MONDO:0000110 "Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated." "OMIM:109740 OMIM:210400 GARD:0000884 ICD10:Q30.2 UMLS:CN227089 Orphanet:2695 MESH:C535441" +MONDO:0000110 "Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated." "OMIM:109740 OMIM:210400 GARD:0000884 ICD10CM:Q30.2 UMLS:CN227089 Orphanet:2695 MESH:C535441" CHR:9606-chr20q11 CHEBI:18367 "A phosphate ion that is the conjugate base of hydrogenphosphate." -MONDO:0018847 "Orphanet:490 SCTID:80880002 GARD:0004081 ICD10:Q43.0" -MONDO:0012725 "ICD9:593.89 UMLS:C2673196 SCTID:446923008 Orphanet:329481 ICD9:272.8 OMIM:611771 ICD10:N07.8 MESH:C567089" -MONDO:0008006 "Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies." "MedDRA:10027789 MESH:D020331 EFO:1001046 NCIT:C84893 MedDRA:10030069 SCTID:89444000 OMIM:157900 GARD:0008549 ICD10:Q87.0 Orphanet:570 DOID:13501 ICD9:759.89 UMLS:C0853240 UMLS:C0221060" -MONDO:0014021 "Orphanet:391389 UMLS:C3808667 ICD10:M79.6 Orphanet:391384 OMIM:615040 UMLS:CN204968" +MONDO:0018847 "Orphanet:490 ICD10CM:Q43.0 SCTID:80880002 GARD:0004081" +MONDO:0012725 "ICD9:593.89 UMLS:C2673196 SCTID:446923008 Orphanet:329481 ICD9:272.8 OMIM:611771 ICD10CM:N07.8 MESH:C567089" +MONDO:0008006 "Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies." "MedDRA:10027789 MESH:D020331 EFO:1001046 NCIT:C84893 MedDRA:10030069 SCTID:89444000 OMIM:157900 GARD:0008549 Orphanet:570 DOID:13501 ICD10CM:Q87.0 ICD9:759.89 UMLS:C0853240 UMLS:C0221060" +MONDO:0014021 "Orphanet:391389 UMLS:C3808667 Orphanet:391384 ICD10CM:M79.6 OMIM:615040 UMLS:CN204968" UBERON:0003495 MONDO:0005892 "Otitis media associated with accumulation of fluid in the middle ear." "MESH:D010034 EFO:0007415 NCIT:C34886 ICD9:381.29 SCTID:78868004 ICD9:381.20" MONDO:0700027 "Chromosomal disorder in which chromosome X is affected." UBERON:0000998 MONDO:0020815 "Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation." "UMLS:C0011428 MESH:D003803 SCTID:9245008" http://identifiers.org/hgnc/811 -MONDO:0017840 "The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." "Orphanet:315311 ICD10:E25.0" -MONDO:0005832 "Inflammation of the lymphatic vessels." "DOID:9317 NCIT:C34790 SCTID:1415005 ICD9:457.2 ICD10:I89.1 UMLS:C0024225 MESH:D008205 EFO:0007351" +MONDO:0017840 "The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." "Orphanet:315311 ICD10CM:E25.0" +MONDO:0005832 "Inflammation of the lymphatic vessels." "DOID:9317 NCIT:C34790 SCTID:1415005 ICD9:457.2 UMLS:C0024225 MESH:D008205 EFO:0007351 ICD10CM:I89.1" HP:0003470 "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." "UMLS:C0522224 SNOMEDCT_US:44695005 MSH:D010243" HP:0001607 "UMLS:C0238441 SNOMEDCT_US:22668006" MONDO:0003143 "A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli)." "UMLS:C0346075 SCTID:254788004 UMLS:C0002985 NCIT:C4488 MESH:D000794 CSP:2007-0683 DOID:479" UBERON:0002031 -MONDO:0017935 "Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life." "UMLS:C4303475 ICD10:E16.1 Orphanet:324575 SCTID:721234004" +MONDO:0017935 "Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life." "UMLS:C4303475 Orphanet:324575 SCTID:721234004 ICD10CM:E16.1" UBERON:0004692 MONDO:0025130 "An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B." "UMLS:C0039010 MESH:D013555" MONDO:0044984 "A disease or disorder that involves the nasolacrimal duct." "UMLS:C0521744 SCTID:95767006" MONDO:0010329 "UMLS:C1845499 MESH:C564511 OMIM:300454" -MONDO:0001152 "Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories." "ICD9:294.0 NCIT:C2867 DOID:10914 EFO:1001454 SCTID:3298001 ICD10:R41.3" -MONDO:0012409 "Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene." "UMLS:C1864720 DOID:0060839 Orphanet:2542 MESH:C566446 OMIM:610093 ICD10:Q11.0" +MONDO:0001152 "Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories." "ICD9:294.0 NCIT:C2867 DOID:10914 EFO:1001454 SCTID:3298001" +MONDO:0012409 "Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene." "UMLS:C1864720 DOID:0060839 Orphanet:2542 MESH:C566446 OMIM:610093" UBERON:0003494 GO:0003353 "Any process that increases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium." UBERON:0005891 MONDO:0014350 "Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene." "OMIM:615807 DOID:0070009 UMLS:C3891452 Orphanet:808" -MONDO:0007040 "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections." "Orphanet:3128 ICD10:Q87.0 OMIM:101120 DOID:0060359 UMLS:C1275079 GARD:0000115 SCTID:403768004 MESH:C537227" +MONDO:0007040 "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections." "Orphanet:3128 OMIM:101120 DOID:0060359 UMLS:C1275079 GARD:0000115 SCTID:403768004 MESH:C537227" MONDO:0100108 "TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation." GO:0004565 "Catalysis of the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides." UBERON:0000999 @@ -32921,23 +32900,23 @@ GO:0008219 "Any biological process that results in permanent cessation of all vi HP:0001608 "UMLS:C4021776" UBERON:0002030 UBERON:0002296 -MONDO:0016564 "PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." "UMLS:CN226962 ICD10:G23.1 Orphanet:240112" +MONDO:0016564 "PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." "UMLS:CN226962 ICD10CM:G23.1 Orphanet:240112" GO:0043433 "Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription." NCBITaxon:2501931 "GC_ID:1" MONDO:0020195 "Orphanet:98605" MONDO:0022598 "GARD:0000961" MONDO:0100312 "Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction." MONDO:0021224 "A neoplasm (disease) that involves the iris." "NCIT:C3142 UMLS:C0022079" -MONDO:0014023 "ICD10:E77.8 Orphanet:329178 GARD:0012416 UMLS:C3554385 OMIM:615042 DOID:0080571" +MONDO:0014023 "ICD10CM:E77.8 Orphanet:329178 GARD:0012416 UMLS:C3554385 OMIM:615042 DOID:0080571" UBERON:0000995 -MONDO:0007213 "Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature." "Orphanet:93395 MESH:C537094 UMLS:C1862163 ICD10:Q73.8 GARD:0000959 DOID:0110963 SCTID:722298001 OMIM:112440" -MONDO:0013925 "Orphanet:26 Orphanet:369955 ICD10:E71.1 UMLS:C3553915 OMIM:614857 GARD:0012621" +MONDO:0007213 "Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature." "Orphanet:93395 MESH:C537094 UMLS:C1862163 GARD:0000959 ICD10CM:Q73.8 DOID:0110963 SCTID:722298001 OMIM:112440" +MONDO:0013925 "Orphanet:26 Orphanet:369955 UMLS:C3553915 OMIM:614857 ICD10CM:E71.1 GARD:0012621" MONDO:0017647 "UMLS:CN203539 Orphanet:306727" PATO:0000460 "A quality inhering in a bearer by virtue of the bearer's deviation from normal or average." GO:0099503 "A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space." UBERON:0002291 MONDO:0002169 "An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." "DOID:1996 SCTID:254582000 UMLS:C0149978 ONCOTREE:READ EFO:0005631 NCIT:C9383" -MONDO:0007639 "Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age." "DOID:11105 SCTID:68222009 ICD10:H35.5 ICD10:H35.52 OMIM:136880 MESH:C562733 Orphanet:52427 ICD9:362.74 ICD9:362.76 Orphanet:227796" +MONDO:0007639 "Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age." "DOID:11105 SCTID:68222009 ICD10CM:H35.5 OMIM:136880 MESH:C562733 Orphanet:52427 ICD9:362.74 ICD9:362.76 Orphanet:227796" MONDO:0003840 "A rare benign adipose tissue neoplasm of the epicardium of the heart." "UMLS:C1333411 NCIT:C6742 DOID:6284" MONDO:0000376 "A malignant neoplasm involving the respiratory system" "ICD9:165.9 SCTID:449096009 ICD9:165.8 DOID:0050615 UMLS:C3164456" MONDO:0000762 "A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome." "DOID:0060429" @@ -32948,7 +32927,7 @@ MONDO:0013444 "Any nephronophthisis in which the cause of the disease is a mutat GO:0045599 "Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation." UBERON:0000997 http://identifiers.org/hgnc/14550 -MONDO:0010328 "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH)." "Orphanet:231401 ICD10:D56.0 UMLS:C0585216 ICD10:D46.7 SCTID:307343001 ICD9:282.49 OMIM:300448 MESH:C563023" +MONDO:0010328 "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH)." "Orphanet:231401 ICD10CM:D56.0 UMLS:C0585216 SCTID:307343001 ICD9:282.49 OMIM:300448 MESH:C563023" NCBITaxon:11608 GO:0001671 "Binds to and increases the activity of an ATP hydrolysis activity." MONDO:0000972 "A benign adipose tissue neoplasm involving the gallbladder wall." "NCIT:C5835 UMLS:C1333747 DOID:10201" @@ -32963,7 +32942,7 @@ MONDO:0020197 "UMLS:CN207046 Orphanet:98609" MONDO:0022330 "GARD:0008155 MESH:C535315" CL:1000442 "An urothelial cell that is part of the trigone of urinary bladder." "FMA:70598" http://identifiers.org/hgnc/8927 -MONDO:0014025 "OMIM:615048 ICD10:G12.1 Orphanet:276435 UMLS:C3554398" +MONDO:0014025 "OMIM:615048 Orphanet:276435 ICD10CM:G12.1 UMLS:C3554398" GO:0016769 "Catalysis of the transfer of a nitrogenous group from one compound (donor) to another (acceptor)." UBERON:0000993 GO:0003097 "The directed movement of water (H2O) by the renal system." @@ -32971,20 +32950,20 @@ UBERON:0001095 GO:0061448 "The progression of a connective tissue over time, from its formation to the mature structure." MONDO:0013927 "UMLS:C3553929 NCIT:C155752 OMIM:614859 DOID:0080478 Orphanet:912 MESH:C566633" MONDO:0017645 "Orphanet:306715" -MONDO:0001388 "A malignant neoplasm involving the glans penis." "SCTID:363451005 UMLS:C0153599 DOID:11839 ICD9:187.2 ICD10:C60.1" +MONDO:0001388 "A malignant neoplasm involving the glans penis." "SCTID:363451005 UMLS:C0153599 DOID:11839 ICD9:187.2" ENVO:01001226 "A natural environment which is located on a land mass." -MONDO:0017929 "Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy." "SCTID:734031008 ICD10:H47.4 Orphanet:324353" -MONDO:0019630 "Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities." "Orphanet:91491 ICD10:Q10.1" +MONDO:0017929 "Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy." "SCTID:734031008 ICD10CM:H47.4 Orphanet:324353" +MONDO:0019630 "Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities." "Orphanet:91491 ICD10CM:Q10.1" NBO:0000347 "\"The coordination of large muscle groups and whole body movement.\" [NBO:GVG]" UBERON:0002293 MONDO:0019285 "A nail anomaly that is part of a larger syndrome." "UMLS:CN227613 Orphanet:79370" GO:0042588 "A membrane-bounded, cytoplasmic secretory granule found in enzyme-secreting cells and visible by light microscopy. Contain zymogen, an inactive enzyme precursor, often of a digestive enzyme." -MONDO:0006908 "A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction." "Orphanet:95613 UMLS:C0032001 MedDRA:10056447 NCIT:C26853 DOID:1129 SCTID:237701005 ICD9:253.8 ICD10:E23.6 EFO:1001108 MESH:D010899" -MONDO:0011360 "An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31." "MESH:C566344 UMLS:C1863613 DOID:0110469 OMIM:603678 ICD10:H90.3" +MONDO:0006908 "A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction." "Orphanet:95613 UMLS:C0032001 MedDRA:10056447 NCIT:C26853 DOID:1129 SCTID:237701005 ICD9:253.8 ICD10CM:E23.6 EFO:1001108 MESH:D010899" +MONDO:0011360 "An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31." "MESH:C566344 UMLS:C1863613 DOID:0110469 OMIM:603678" GO:0022404 "A multicellular organismal process involved in the periodic casting off and regeneration of an outer covering of cuticle, feathers, hair, horns, skin." MONDO:0005675 "Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus." "EFO:0007177 UMLS:C0006008 MESH:D001882" MONDO:0015345 "Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome." "Orphanet:139426 SCTID:766815007" -MONDO:0018764 "Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported." "Orphanet:468631 OMIM:614833" +MONDO:0018764 "Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported." "OMIM:614833 Orphanet:468631" NCBITaxon:8457 "GC_ID:1" UBERON:0001094 MONDO:0017646 "Orphanet:306719 UMLS:CN203538" @@ -32998,7 +32977,7 @@ http://identifiers.org/hgnc/4385 NCBITaxon:149546 "GC_ID:1" MONDO:0001948 CL:0000071 "An endothelial cell that lines the vasculature." -MONDO:0018100 "A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration." "GARD:0002906 ICD10:E83.4 NCIT:C123263 DOID:0060879 OMIMPS:602014 Orphanet:34526 SCTID:80710001" +MONDO:0018100 "A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration." "GARD:0002906 ICD10CM:E83.4 NCIT:C123263 DOID:0060879 OMIMPS:602014 Orphanet:34526 SCTID:80710001" NCBITaxon:68459 "GC_ID:6" UBERON:0000991 ECTO:7000119 "A exposure event involving the interaction of an exposure receptor to contaminated water." @@ -33006,20 +32985,20 @@ ENVO:01001319 "A body of water which is primarily composed of saline water." MONDO:0020191 "Orphanet:98601" FOODON:03470107 "The methods contributing to the prevention or retardation of microbial, enzymatic or oxidative spoilage and thus to the extension of shelf life. Index all methods for which information is available, even if a corresponding descriptor has already been used in *H. TREATMENT APPLIED*. Preservation descriptors refer to the finished food as a whole with these exceptions: (1) if the components of a multi-component food, such as cream pie, are preservation by different methods, index all methods; (2) if chemical preservatives are declared on the label, always index them even if it is known that the preservative was introduced through or is only present in a component or ingredient of the food; and (3) if the preservation method for an ingredient is declared on the label (such as brie cheese made from pasteurized milk) index it. Also use *INGREDIENT preservation by THERMAL PROCESSING* or *INGREDIENT preservation by IRRADIATION* when ingredients have been pasteurized, ultrapasteurized, sterilized or irradiated."@en "http://www.langual.org/langual_thesaurus.asp?termid=J0107" MONDO:0008450 "A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor." "NCIT:C50749 Orphanet:137817 SCTID:426055002 MESH:C531624 OMIM:182950 UMLS:C1710146" -MONDO:0024548 "Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene." "UMLS:C3891449 Orphanet:263553 UMLS:CN202306 Orphanet:263543 ICD10:Q80.8 OMIM:270300" -MONDO:0013469 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene." "OMIM:613862 DOID:0110367 UMLS:C3151228 ICD10:H35.5" +MONDO:0024548 "Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene." "UMLS:C3891449 Orphanet:263553 UMLS:CN202306 Orphanet:263543 ICD10CM:Q80.8 OMIM:270300" +MONDO:0013469 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene." "OMIM:613862 DOID:0110367 UMLS:C3151228" http://identifiers.org/hgnc/19218 MONDO:0021641 "Virus diseases caused by the bunyaviridae." "MESH:D002044 EFO:0007188 SCTID:105632002" -MONDO:0006861 "A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)" "MedDRA:10028562 NCIT:C3520 ICD10:C92.30 ICD9:205.3 GARD:0012763 Orphanet:86850 ICDO:9930/3 EFO:1001052 NCIT:C35815 ONCOTREE:MS MESH:D023981 DOID:8683 ICD10:C92.3" +MONDO:0006861 "A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)" "MedDRA:10028562 NCIT:C3520 ICD9:205.3 GARD:0012763 Orphanet:86850 ICDO:9930/3 EFO:1001052 NCIT:C35815 ONCOTREE:MS MESH:D023981 DOID:8683 ICD10CM:C92.3" HP:0004319 "Abnormally reduced levels of aldosterone." "UMLS:C0020595 SNOMEDCT_US:60086000 UMLS:C1846226 UMLS:C0857899 MSH:D006994" -MONDO:0015599 "Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis." "MedDRA:10069664 ICD9:370.49 UMLS:C1274788 SCTID:403434009 Orphanet:163934 ICD10:H16.2" +MONDO:0015599 "Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis." "MedDRA:10069664 ICD9:370.49 UMLS:C1274788 SCTID:403434009 ICD10CM:H16.2 Orphanet:163934" CL:1000909 "KUPO:0001047" -MONDO:0006643 "A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years." "ICD10:I42.6 SCTID:83521008 MESH:D002310 UMLS:C0007192 DOID:12935 MedDRA:10001616 NCIT:C53653 ICD9:425.5 EFO:1000801" +MONDO:0006643 "A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years." "SCTID:83521008 MESH:D002310 UMLS:C0007192 ICD10CM:I42.6 DOID:12935 MedDRA:10001616 NCIT:C53653 ICD9:425.5 EFO:1000801" MONDO:0004379 "A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females." "DOID:7843 NCIT:C2918 ICD9:174.9 DOID:0050671 ICD9:174.8 UMLS:C0007104 SCTID:447782002 SCTID:372064008" MONDO:0013080 "UMLS:C2751695 MESH:C567816 Orphanet:186 OMIM:613008" -MONDO:0005371 "A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature." "ICD9:296.99 MESH:D019964 DOID:3324 ICD10:F30-F39 NCIT:C92200 ICD10:F30.F39 EFO:0004247 UMLS:CN236678 SCTID:46206005 ICD10:F39" -MONDO:0012213 "A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1." "ICD10:G11.4 MESH:C536862 GARD:0009587 Orphanet:101006 DOID:0110777 UMLS:C4511959 UMLS:C1836632 SCTID:726607007 OMIM:609195" -MONDO:0002027 "A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection." "NCIT:C92636 ICD10:F60.6 DOID:1509 ICD9:301.82 SCTID:231528008" +MONDO:0005371 "A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature." "ICD9:296.99 DOID:3324 MESH:D019964 NCIT:C92200 EFO:0004247 UMLS:CN236678 SCTID:46206005 ICD10CM:F30-F39" +MONDO:0012213 "A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1." "MESH:C536862 GARD:0009587 Orphanet:101006 DOID:0110777 UMLS:C4511959 UMLS:C1836632 ICD10CM:G11.4 SCTID:726607007 OMIM:609195" +MONDO:0002027 "A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection." "NCIT:C92636 DOID:1509 ICD9:301.82 ICD10CM:F60.6 SCTID:231528008" http://identifiers.org/hgnc/26559 UBERON:0000992 CL:0009036 "A macrophage located in the vermiform appendix." @@ -33027,50 +33006,50 @@ http://identifiers.org/hgnc/28956 MONDO:0005430 "A form of hypertension with early onset relative to normal range for a given population." "EFO:0004772" GO:0042180 "The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups." GO:0046929 "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a neurotransmitter." -MONDO:0002047 "ICD9:517.2 DOID:1578 SCTID:196133001 UMLS:C0339904 ICD10:M34.81" +MONDO:0002047 "ICD9:517.2 DOID:1578 SCTID:196133001 UMLS:C0339904" UBERON:0015458 CL:0002178 "An epithelial cell found in the lining of the stomach." "FMA:62948" MONDO:0030708 "An cervicitis (disease) caused by infection with Trichomonas vaginalis." "NCIT:C35588" MONDO:0021242 "A neoplasm (disease) that involves the sublingual gland." "NCIT:C3392 EFO:1001430 UMLS:C0038554 MESH:D013362 SCTID:126790004" HP:0010892 "Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation." "UMLS:C4023673" MONDO:0016953 "Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person." "Orphanet:262842 GARD:0005340 UMLS:C0795805 MESH:C535367" -MONDO:0008922 "Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." "SCTID:717812000 Orphanet:1369 GARD:0001142 UMLS:C1859317 OMIM:212350 OMIM:615418 MESH:C538280 ICD10:Q87.8 DOID:0080132" +MONDO:0008922 "Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." "SCTID:717812000 ICD10CM:Q87.8 Orphanet:1369 GARD:0001142 UMLS:C1859317 OMIM:212350 OMIM:615418 MESH:C538280 DOID:0080132" MONDO:0021759 "Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications." "GARD:0002399 SCTID:413427002" MONDO:0008570 "Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene." "OMIM:188580 UMLS:C0268446 Orphanet:79102" -MONDO:0100010 "Disorders that are causes by overuse of tendons." "SCTID:68172002 EFO:1001434" +MONDO:0100010 "Disorders that are causes by overuse of tendons." "ICD10CM:M65-M67 SCTID:68172002 EFO:1001434" http://identifiers.org/hgnc/4387 MONDO:0003242 CHEBI:35544 "A compound or agent that combines with cyclooxygenases (EC 1.14.99.1) and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of icosanoids, prostaglandins, and thromboxanes." MONDO:0020193 "Orphanet:98603" http://identifiers.org/hgnc/26558 -MONDO:0018551 "Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus." "SCTID:398316009 ICD10:Q64.4 Orphanet:431341 NCIT:C99005 HP:0010479 UMLS:CN237552" +MONDO:0018551 "Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus." "SCTID:398316009 Orphanet:431341 NCIT:C99005 ICD10CM:Q64.4 HP:0010479 UMLS:CN237552" ECTO:9001943 "An exposure to food acidity regulator." -MONDO:0001414 "A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones." "ICD9:756.53 SCTID:9147009 MESH:D010023 ICD10:Q78.8 GARD:0004158 DOID:11991 NCIT:C84985 HP:0010739" -MONDO:0014208 "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene." "ICD10:G60.0 DOID:0110161 UMLS:C3809655 Orphanet:397968 OMIM:615490 GARD:0012451" -MONDO:0004892 "A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia." "MESH:D012030 SCTID:39021009 DOID:9835 ICD10:H52.7 NCIT:C87145" -MONDO:0016291 "Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987." "UMLS:CN226893 Orphanet:2145 GARD:0002671 ICD10:Q75.0" -MONDO:0016642 "A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)" "MedDRA:10027191 ICD10:D32.9 HP:0002858 NCIT:C3230 GARD:0007015 ICDO:9530/0 Orphanet:2495 SCTID:126965008 ONCOTREE:MNG UMLS:C0025286 UMLS:C0025284 MESH:D008579 SCTID:302820008 DOID:3565 NCIT:C3229 OMIM:606190" +MONDO:0001414 "A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones." "ICD9:756.53 SCTID:9147009 MESH:D010023 GARD:0004158 DOID:11991 NCIT:C84985 HP:0010739" +MONDO:0014208 "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene." "DOID:0110161 UMLS:C3809655 Orphanet:397968 OMIM:615490 GARD:0012451 ICD10CM:G60.0" +MONDO:0004892 "A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia." "MESH:D012030 SCTID:39021009 DOID:9835 NCIT:C87145 ICD10CM:H49-H52" +MONDO:0016291 "Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987." "UMLS:CN226893 Orphanet:2145 ICD10CM:Q75.0 GARD:0002671" +MONDO:0016642 "A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)" "MedDRA:10027191 HP:0002858 NCIT:C3230 GARD:0007015 ICDO:9530/0 Orphanet:2495 SCTID:126965008 ONCOTREE:MNG UMLS:C0025286 UMLS:C0025284 MESH:D008579 SCTID:302820008 ICD10CM:D32.9 DOID:3565 NCIT:C3229 OMIM:606190" UBERON:0001091 MONDO:0010321 "OMIM:300425" MONDO:0002044 "SCTID:80846000 UMLS:C0155195 DOID:1571 ICD9:374.13" -MONDO:0004643 "A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia." "MESH:D007951 SCTID:188732008 ICD10:C92.90 ICDO:9860/3 ICD9:205.9 NCIT:C3172 ICD9:205.80 ICD9:205 ICD10:C92.9 ICD9:205.90 UMLS:C0023470 ICD10:C92 DOID:8692 GARD:0008226" -MONDO:0008620 "This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity." "ICD10:Q78.8 MESH:C538069 OMIM:191440 Orphanet:2497 GARD:0002408" -MONDO:0001921 "A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection." "DOID:14248 UMLS:C0155441 UMLS:C0565831 ICD9:382.2 ICD10:H66.2 SCTID:267759006 ICD10:H66.20" +MONDO:0004643 "A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia." "MESH:D007951 SCTID:188732008 ICDO:9860/3 ICD9:205.9 NCIT:C3172 ICD9:205.80 ICD9:205 ICD9:205.90 UMLS:C0023470 DOID:8692 GARD:0008226" +MONDO:0008620 "This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity." "MESH:C538069 OMIM:191440 Orphanet:2497 ICD10CM:Q78.8 GARD:0002408" +MONDO:0001921 "A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection." "DOID:14248 UMLS:C0155441 ICD9:382.2 UMLS:C0565831 SCTID:267759006" MONDO:0005628 "A malignant neoplasm involving the male breast." "DOID:1614 NCIT:C3862 SCTID:372095001 ICD9:175.9 UMLS:C0242788 EFO:0006861 GARD:0009312 UMLS:C0242787 UMLS:C0238033 MESH:D018567" GO:0005638 "Any of a group of intermediate-filament proteins that form the fibrous matrix on the inner surface of the nuclear envelope. They are classified as lamins A, B and C." HP:0100786 "UMLS:C0917799 SNOMEDCT_US:77692006 MSH:D006970" http://identifiers.org/hgnc/4122 -MONDO:0008744 "Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." "GARD:0000588 MESH:C535967 Orphanet:2007 OMIM:203000 ICD10:Q75.8 UMLS:C1859964" +MONDO:0008744 "Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." "GARD:0000588 ICD10CM:Q75.8 MESH:C535967 Orphanet:2007 OMIM:203000 UMLS:C1859964" UBERON:0000990 UBERON:0001090 http://identifiers.org/hgnc/4388 -MONDO:0001157 "A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life." "ICD9:301.6 DOID:10931 ICD10:F60.7 MESH:D003859 SCTID:84466009 NCIT:C92637" +MONDO:0001157 "A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life." "ICD9:301.6 DOID:10931 ICD10CM:F60.7 MESH:D003859 SCTID:84466009 NCIT:C92637" MONDO:0020194 "Orphanet:98604" PATO:0001776 "A flexibility which is relatively high." -MONDO:0017827 "Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites." "SCTID:404037002 ICD9:171.9 ICD10:C47.9 UMLS:C0751690 Orphanet:3148 MedDRA:10029236 DOID:5940 NCIT:C3798 ICDO:9560/3 ICDO:9540/3 ONCOTREE:MPNST GARD:0010872" +MONDO:0017827 "Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites." "SCTID:404037002 ICD9:171.9 ICD10CM:C47.9 UMLS:C0751690 Orphanet:3148 MedDRA:10029236 DOID:5940 NCIT:C3798 ICDO:9560/3 ICDO:9540/3 ONCOTREE:MPNST GARD:0010872" MONDO:0003987 "A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis." "DOID:6760 NCIT:C4794 UMLS:C1704383" NCBITaxon:2169701 "GC_ID:1" -MONDO:0016466 "A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain." "EFO:0007153 MESH:D001195 SCTID:22607003 ICD10:J61 Orphanet:2302 DOID:10320 UMLS:C0003949 GARD:0005852 ICD9:501 NCIT:C84573 CSP:2596-4484" +MONDO:0016466 "A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain." "ICD10CM:J61 EFO:0007153 MESH:D001195 SCTID:22607003 Orphanet:2302 DOID:10320 UMLS:C0003949 GARD:0005852 ICD9:501 NCIT:C84573 CSP:2596-4484" NCIT:C3367 CHEBI:59869 "Zwitterionic form of an L-alpha-amino acid having an anionic carboxy group and a protonated amino group." MONDO:0044208 "Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480)." "OMIM:617475 Orphanet:169142 UMLS:C4479548" @@ -33082,16 +33061,16 @@ MONDO:0004518 "A malignant neoplasm that affects the portion of the urethra that MONDO:0005572 "Polycythemia resulting from hypoxia." "NCIT:C27312 UMLS:C0856818 DOID:2835 EFO:0005805" MONDO:0033115 "OMIM:617584 DOID:0080259 UMLS:CN349871" GO:0031947 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids." -MONDO:0013239 "Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise." "SCTID:763069002 OMIM:613364 UMLS:CN203988 ICD10:G11.4 Orphanet:320355 DOID:0110793" +MONDO:0013239 "Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise." "SCTID:763069002 OMIM:613364 UMLS:CN203988 ICD10CM:G11.4 Orphanet:320355 DOID:0110793" GO:0002367 "The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus contributing to an immune response, resulting in an increase in its intracellular or extracellular levels." http://identifiers.org/hgnc/4389 MONDO:0005121 "A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." "EFO:0000780" -MONDO:0012839 "Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." "OMIM:612260 UMLS:C2677092 GARD:0012638 ICD10:D84.8 MESH:C567379 Orphanet:183713" +MONDO:0012839 "Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." "ICD10CM:D84.8 OMIM:612260 UMLS:C2677092 GARD:0012638 MESH:C567379 Orphanet:183713" PATO:0000610 "A morphological quality inhering in a bearer by virtue of the bearer's affording unobstructed passage or view." HP:0003307 "Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine." "SNOMEDCT_US:249710008 SNOMEDCT_US:61960001 UMLS:C0024003 MSH:D008141" MONDO:0004275 "A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis." "DOID:7542 ICDO:9184/3 NCIT:C6469 UMLS:C1335148" CHEBI:38716 "Any dianion containing at least one carboxy group." -MONDO:0008083 "A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "GARD:0001222 UMLS:C4284284 Orphanet:79262 NCIT:C128116 UMLS:C1834207 DOID:0110720 Orphanet:228343 OMIM:162350 ICD10:E75.4" +MONDO:0008083 "A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "GARD:0001222 ICD10CM:E75.4 UMLS:C4284284 Orphanet:79262 NCIT:C128116 UMLS:C1834207 DOID:0110720 Orphanet:228343 OMIM:162350" GO:2000380 "Any process that modulates the frequency, rate or extent of mesoderm development." MONDO:0014281 "Orphanet:70567 OMIM:615619" MONDO:0001577 "Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children." "NCIT:C3354 SCTID:55735004 EFO:1001413 DOID:1273 UMLS:C0035235 MESH:D018357" @@ -33102,34 +33081,34 @@ MONDO:0004096 "A dermoid cyst that involves the spinal cord." "DOID:7071 NCIT:C6 MONDO:0016443 "An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities." "UMLS:C0473584 Orphanet:228264 SCTID:239138008 NCIT:C4707 UMLS:C0406816" http://identifiers.org/hgnc/29059 MONDO:0011520 "OMIM:605218 UMLS:C1854577" -MONDO:0002508 "A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth." "ICD10:K05.00 DOID:3087 ICD9:523.10 ICD10:K05.1 ICD9:523.1 SCTID:66383009 UMLS:C0017574 NCIT:C34636 ICD9:523.0 MESH:D005891 ICD10:K05.0 ICD10:K05.10" +MONDO:0002508 "A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth." "DOID:3087 ICD9:523.10 ICD9:523.1 SCTID:66383009 UMLS:C0017574 NCIT:C34636 ICD9:523.0 MESH:D005891" GO:1901652 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus." MONDO:0021538 "A verrucous carcinoma that involves the oral cavity." "UMLS:C0280306 SCTID:403889000 NCIT:C8174" -MONDO:0015422 "Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated." "Orphanet:141330 UMLS:C2932680 SCTID:763835004 GARD:0010694 MESH:C548035 ICD10:Q87.0" +MONDO:0015422 "Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated." "ICD10CM:Q87.0 Orphanet:141330 UMLS:C2932680 SCTID:763835004 GARD:0010694 MESH:C548035" MONDO:0013834 "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene." "Orphanet:178338 UMLS:C3553328 OMIM:614640" UBERON:0015454 PATO:0002070 "A molecular quality that arises from the molecular attraction exerted between two atoms or compounds." CL:0000740 "The set of neurons that receives neural inputs via bipolar, horizontal and amacrine cells. The axons of these cells make up the optic nerve." "BTO:0001800 FMA:67765" -MONDO:0018873 "Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome." "UMLS:CN776944 ICD10:G58.0 Orphanet:51890" +MONDO:0018873 "Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome." "UMLS:CN776944 Orphanet:51890" GO:0070588 "A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore." MONDO:0021385 "A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma." "SCTID:126855001 UMLS:C0345913 NCIT:C4441" MONDO:0013084 "OMIM:613015" -MONDO:0019522 "Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." "ICD10:Q81.2 Orphanet:89842 GARD:0012794 UMLS:CN206337" +MONDO:0019522 "Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." "Orphanet:89842 GARD:0012794 ICD10CM:Q81.2 UMLS:CN206337" MONDO:0010322 "UMLS:C0796207 MESH:C563135 OMIM:300428" CL:1001005 "KUPO:0001037" -MONDO:0009031 "Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." "DOID:0080032 Orphanet:1513 ICD10:M85.2 MESH:C562940 SCTID:205506004 UMLS:C0410539 OMIM:218300 OMIM:122860 GARD:0001567 NCIT:C131429 ICD9:756.59" +MONDO:0009031 "Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." "DOID:0080032 Orphanet:1513 MESH:C562940 SCTID:205506004 ICD10CM:M85.2 UMLS:C0410539 OMIM:218300 OMIM:122860 GARD:0001567 NCIT:C131429 ICD9:756.59" CHEBI:43474 "A phosphate ion that is the conjugate base of dihydrogenphosphate." MONDO:0012565 "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene." "DOID:0111094 UMLS:C1835817 OMIM:610832 MESH:C563657" -MONDO:0016208 "Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum." "Orphanet:209964 UMLS:CN200964 UMLS:C4274343 ICD10:K62.6 SCTID:716685003" +MONDO:0016208 "Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum." "ICD10CM:K62.6 Orphanet:209964 UMLS:CN200964 UMLS:C4274343 SCTID:716685003" GO:2000851 "Any process that activates or increases the frequency, rate or extent of glucocorticoid secretion." GO:0048284 "The creation of a single organelle from two or more organelles." MONDO:0010326 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene." "Orphanet:777 OMIM:300436 UMLS:C1845526 MESH:C564513" MONDO:0003325 "A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules." "NCIT:C42058 DOID:5193 UMLS:C1517445" GO:0038064 "Combining with a collagen and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity." -MONDO:0019421 "X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked." "SCTID:718897009 ICD10:Q87.8 UMLS:CN227630 Orphanet:85323" +MONDO:0019421 "X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked." "SCTID:718897009 UMLS:CN227630 Orphanet:85323 ICD10CM:Q87.8" MONDO:0014026 "Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene." "OMIM:615058 Orphanet:215 UMLS:C3554399 DOID:0110864" -MONDO:0005922 "Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis." "EFO:0007446 MESH:D014396 ICD9:010.12 ICD9:010.1 ICD9:012.00 NCIT:C26898 ICD9:010.16 ICD9:010.10 ICD10:A15.6 SCTID:186172004 DOID:106 ICD9:012.0" -MONDO:0011523 "OMIM:209900 MESH:C565738 GARD:0010205 DOID:0110128 OMIM:605231 ICD10:Q87.89 UMLS:C1858054 Orphanet:110" +MONDO:0005922 "Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis." "EFO:0007446 MESH:D014396 ICD9:010.12 ICD9:010.1 ICD9:012.00 ICD10CM:A15.6 NCIT:C26898 ICD9:010.16 ICD9:010.10 SCTID:186172004 DOID:106 ICD9:012.0" +MONDO:0011523 "OMIM:209900 MESH:C565738 GARD:0010205 DOID:0110128 OMIM:605231 UMLS:C1858054 Orphanet:110" http://identifiers.org/hgnc/28957 CL:0002018 "An erythroblast that is GlyA-positive and CD71-negative." MONDO:0003813 "A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma." "UMLS:C0476121 DOID:6214 NCIT:C8430" @@ -33138,13 +33117,13 @@ MONDO:0024550 "Any frontometaphyseal dysplasia in which the cause of the disease MONDO:0700075 "Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene." MONDO:0002981 "A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain." "DOID:4388 UMLS:C0855009 NCIT:C8776" GO:0043388 "Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid)." -MONDO:0017149 "Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal." "ICD10:I27.2 EFO:0009192 Orphanet:275786 UMLS:C0340544" +MONDO:0017149 "Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal." "EFO:0009192 ICD10CM:I27.2 Orphanet:275786 UMLS:C0340544" MONDO:0013085 "OMIM:613016" -MONDO:0009181 "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy." "DOID:0090017 MESH:C535955 GARD:0002137 Orphanet:257 ICD10:Q81.0 OMIM:226670 SCTID:723308003 UMLS:C2931072" -MONDO:0010325 "UMLS:C1845530 MESH:C537495 ICD10:Q87.8 Orphanet:85288 OMIM:300434 SCTID:718910006 GARD:0001133" -MONDO:0006468 "A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." "SCTID:255031003 DOID:0080522 EFO:1000595 NCIT:C3878 ICD10:C73 GARD:0000664 Orphanet:142 ONCOTREE:THAP MESH:D065646 HP:0011779 UMLS:C0238461 MedDRA:10002240" +MONDO:0009181 "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy." "DOID:0090017 ICD10CM:Q81.0 MESH:C535955 GARD:0002137 Orphanet:257 OMIM:226670 SCTID:723308003 UMLS:C2931072" +MONDO:0010325 "UMLS:C1845530 ICD10CM:Q87.8 MESH:C537495 Orphanet:85288 OMIM:300434 SCTID:718910006 GARD:0001133" +MONDO:0006468 "A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive." "SCTID:255031003 DOID:0080522 EFO:1000595 NCIT:C3878 GARD:0000664 Orphanet:142 ICD10CM:C73 ONCOTREE:THAP MESH:D065646 HP:0011779 UMLS:C0238461 MedDRA:10002240" CHEBI:169952 -MONDO:0012986 "GARD:0010785 OMIM:612691 Orphanet:208441 ICD10:Q04.3 Orphanet:268940 MESH:C567201 UMLS:C2675191" +MONDO:0012986 "GARD:0010785 OMIM:612691 Orphanet:208441 Orphanet:268940 MESH:C567201 ICD10CM:Q04.3 UMLS:C2675191" MONDO:0012720 "MESH:C567097 Orphanet:487 GARD:0010289 UMLS:C2673266 OMIM:611722" NCBITaxon:10405 "GC_ID:1" PCO:0000029 "A collection of organisms that consists of two or more organisms from at least two species."@en @@ -33152,59 +33131,59 @@ MONDO:0033116 "UMLS:CN417133 DOID:0080260 OMIM:617633" MONDO:0001666 "A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation." "DOID:13227 ICD9:362.77" MONDO:0041535 "An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis." "UMLS:C0275758 SCTID:13272007" MONDO:0000669 "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it." "DOID:0060139" -MONDO:0009603 "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established." "OMIM:250620 Orphanet:88639 GARD:0013202 MESH:C562803 ICD10:E71.1 SCTID:722488009" +MONDO:0009603 "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established." "Orphanet:88639 GARD:0013202 MESH:C562803 ICD10CM:E71.1 SCTID:722488009 OMIM:250620" http://identifiers.org/hgnc/28958 MONDO:0020190 "Orphanet:98600" NCBITaxon:10404 "GC_ID:1" -MONDO:0100289 "A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." "Orphanet:53540 GARD:0010781 ICD10:H35.5 SCTID:232065000" -MONDO:0017906 "Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare." "ICD10:E85.4+ ICD10:L99.0* Orphanet:319635" -MONDO:0009761 "A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels." "OMIM:257350 MedDRA:10058949 SCTID:399882002 MESH:D018191 DOID:3081 Orphanet:79486 EFO:1000888 NCIT:C3724 ICD10:D18.1 GARD:0006234 ICDO:9173/0" +MONDO:0100289 "A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)." "ICD10CM:H35.5 Orphanet:53540 GARD:0010781 SCTID:232065000" +MONDO:0017906 "Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare." "ICD10EXP:E85.4+ ICD10EXP:L99.0* Orphanet:319635" +MONDO:0009761 "A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels." "OMIM:257350 MedDRA:10058949 SCTID:399882002 MESH:D018191 DOID:3081 ICD10CM:D18.1 Orphanet:79486 EFO:1000888 NCIT:C3724 GARD:0006234 ICDO:9173/0" MONDO:0005539 "An Crohn disease involving a pathogenic inflammatory response in the small intestine." "EFO:0005629" MONDO:0013086 "OMIM:613017" -MONDO:0010140 "Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone." "ICD9:253.4 SCTID:10736002 NCIT:C121741 ICD10:E03.1 Orphanet:238670 OMIM:275120" +MONDO:0010140 "Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone." "ICD9:253.4 SCTID:10736002 NCIT:C121741 Orphanet:238670 ICD10CM:E03.1 OMIM:275120" MONDO:0010324 "UMLS:C1845531 MESH:C564515 OMIM:300433" UBERON:0007188 UBERON:0005626 UBERON:0009583 -MONDO:0002727 "A disease involving the olfactory nerve." "UMLS:C0751937 ICD10:G52.0 MESH:D020431 SCTID:68982002 ICD9:352.0 DOID:367 NCIT:C27210" -MONDO:0013262 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." "GARD:0012832 Orphanet:54260 MESH:C563538 DOID:0110454 ICD10:I42.0 OMIM:613426" +MONDO:0002727 "A disease involving the olfactory nerve." "UMLS:C0751937 MESH:D020431 SCTID:68982002 ICD9:352.0 DOID:367 NCIT:C27210" +MONDO:0013262 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." "GARD:0012832 Orphanet:54260 MESH:C563538 DOID:0110454 OMIM:613426 ICD10CM:I42.0" MONDO:0011083 "Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant." "UMLS:C0406724 OMIM:601453 MESH:C536551 GARD:0000265 Orphanet:3351 SCTID:277810000" http://identifiers.org/hgnc/23805 http://identifiers.org/hgnc/6522 http://identifiers.org/hgnc/18243 -MONDO:0002660 "An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins." "UMLS:C0005742 HP:0010749 ICD9:374.34 ICD10:H02.3 DOID:348 SCTID:47704002" +MONDO:0002660 "An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins." "UMLS:C0005742 HP:0010749 ICD9:374.34 DOID:348 SCTID:47704002 ICD10CM:H02.3" CHR:9606-chr5p1 MONDO:0004437 ECTO:0000738 "An exposure to ligand." -MONDO:0007197 "SCTID:197866008 ICD10:N32.3 OMIM:109820 HP:0000015 ICD9:596.3 DOID:11353 MESH:C562406" -MONDO:0013368 "Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." "SCTID:718679004 UMLS:C3150946 Orphanet:238744 OMIM:613689 ICD10:Q87.2" -MONDO:0009627 "Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies." "OMIM:251300 UMLS:C0795949 OMIMPS:251300 DOID:0080694 ICD10:Q04.3 GARD:0000065 NCIT:C132195 Orphanet:2065 SCTID:721297008 MESH:C537548 GARD:65" +MONDO:0007197 "SCTID:197866008 OMIM:109820 ICD10CM:N32.3 HP:0000015 ICD9:596.3 DOID:11353 MESH:C562406" +MONDO:0013368 "Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." "SCTID:718679004 UMLS:C3150946 ICD10CM:Q87.2 Orphanet:238744 OMIM:613689" +MONDO:0009627 "Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies." "OMIM:251300 UMLS:C0795949 OMIMPS:251300 DOID:0080694 ICD10CM:Q04.3 GARD:0000065 NCIT:C132195 Orphanet:2065 SCTID:721297008 MESH:C537548 GARD:65" MONDO:0015252 "GARD:0003482 Orphanet:1236 UMLS:CN237422" UBERON:0009584 MONDO:0015025 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene." "DOID:0080433 OMIM:617339 UMLS:C4479208 UMLS:CN240510" MONDO:0005346 "Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin." "SCTID:235919008 MESH:D042882 ICD9:574.20 EFO:0004210" HP:0025153 "Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration." -MONDO:0018133 "Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." "ICD10:E70.3 UMLS:C4304022 SCTID:720520009 UMLS:CN204519 Orphanet:352723" +MONDO:0018133 "Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." "ICD10CM:E70.3 UMLS:C4304022 SCTID:720520009 UMLS:CN204519 Orphanet:352723" GO:1903314 "Any process that modulates the frequency, rate or extent of nitrogen cycle metabolic process." -MONDO:0016699 "Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population." "ICDO:9394/1 Orphanet:251643 ICD10:D43.2 UMLS:C0205769 GARD:0010633 DOID:5075 NCIT:C3697 MESH:D004806 ONCOTREE:MPE" +MONDO:0016699 "Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population." "ICDO:9394/1 ICD10CM:D43.2 Orphanet:251643 UMLS:C0205769 GARD:0010633 DOID:5075 NCIT:C3697 MESH:D004806 ONCOTREE:MPE" http://identifiers.org/hgnc/3192 http://identifiers.org/hgnc/7720 UBERON:0006822 http://identifiers.org/hgnc/16947 MONDO:0002482 "A benign or malignant neoplasm that arises in the area of the nipple." "UMLS:C1112166 DOID:3003 NCIT:C5212" -MONDO:0009748 "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia." "UMLS:C4303565 ICD10:G60.8 SCTID:717827000 UMLS:C1850395 OMIM:256840 MESH:C564948 Orphanet:139578" +MONDO:0009748 "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia." "UMLS:C4303565 ICD10CM:G60.8 SCTID:717827000 UMLS:C1850395 OMIM:256840 MESH:C564948 Orphanet:139578" MONDO:0015251 CHEBI:37806 "A penam that consists of 3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane bearing a carboxy group at position 2 and having (2S,5R)-configuration." http://identifiers.org/hgnc/4390 -MONDO:0021002 "A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms." "ICD10:Q70 ICD10:Q70.2 NCIT:C87125 OMIM:186300 ICD10:Q70.0 ICD10:Q70.4 OMIM:186100 ICD10:Q70.1 MedDRA:10042778 OMIM:186200 ICD9:755.1 ICD10:Q70.3 UMLS:C0039075 OMIM:185900 HP:0001159 ICD10:Q70.9 DOID:11193" +MONDO:0021002 "A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms." "NCIT:C87125 OMIM:186300 OMIM:186100 MedDRA:10042778 OMIM:186200 ICD9:755.1 UMLS:C0039075 OMIM:185900 HP:0001159 DOID:11193" GO:0004634 "Catalysis of the reaction: 2-phospho-D-glycerate = phosphoenolpyruvate + H2O." http://identifiers.org/hgnc/8082 MONDO:0005637 MONDO:0007199 "UMLS:C1862275 OMIM:110000 MESH:C566223" CHEBI:29202 "A colourless, volatile, poisonous inorganic compound with the formula HNCO; the simplest stable chemical compound that contains carbon, hydrogen, nitrogen, and oxygen, the four most commonly-found elements in organic chemistry and biology." -MONDO:0020368 "Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced SchwalbeBs line and iris bands extending into the cornea. In contrast, RiegerBs anomaly includes characteristic iris and pupil anomalies." "SCTID:204152008 ICD10:Q15.0 MedDRA:10058653 OMIM:602482 ICD9:743.44 OMIM:601631 Orphanet:98978" -MONDO:0017356 "An acquired metabolic disease that is has its basis in the disruption of ornithine metabolic process." "Orphanet:289869 UMLS:C0342690 ICD10:E72.4 SCTID:237928008" -MONDO:0008392 "ICD9:334.3 SCTID:45853006 OMIM:180800 GARD:0004741 ICD10:G60.0 Orphanet:3115" +MONDO:0020368 "Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced SchwalbeBs line and iris bands extending into the cornea. In contrast, RiegerBs anomaly includes characteristic iris and pupil anomalies." "SCTID:204152008 MedDRA:10058653 OMIM:602482 ICD9:743.44 OMIM:601631 Orphanet:98978 ICD10CM:Q15.0" +MONDO:0017356 "An acquired metabolic disease that is has its basis in the disruption of ornithine metabolic process." "Orphanet:289869 UMLS:C0342690 SCTID:237928008" +MONDO:0008392 "ICD9:334.3 SCTID:45853006 OMIM:180800 GARD:0004741 ICD10CM:G60.0 Orphanet:3115" MONDO:0060745 "OMIM:618060 UMLS:CN252646" GO:0002831 "Any process that modulates the frequency, rate, or extent of a response to biotic stimulus." http://identifiers.org/hgnc/9280 @@ -33213,34 +33192,34 @@ MONDO:0021498 "A benign neoplasm that involves the placenta." "NCIT:C8545 UMLS:C MONDO:0700009 "Chromosomal disorder in which chromosome 2 is affected." GO:0001817 "Any process that modulates the frequency, rate, or extent of production of a cytokine." CL:0000908 "A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive, that secretes cytokines." -MONDO:0009264 "Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated." "UMLS:C0265706 Orphanet:2368 MedDRA:10018046 EFO:1000949 SCTID:72951007 OMIM:230750 GARD:0008661 ICD9:756.73 MESH:D020139 ICD10:Q79.3 DOID:11044 NCIT:C84725" +MONDO:0009264 "Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated." "UMLS:C0265706 Orphanet:2368 MedDRA:10018046 EFO:1000949 SCTID:72951007 OMIM:230750 GARD:0008661 ICD9:756.73 MESH:D020139 ICD10CM:Q79.3 DOID:11044 NCIT:C84725" GO:0000792 "A compact and highly condensed form of chromatin." -MONDO:0012030 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12." "UMLS:C1842108 ICD10:H90.3 MESH:C564246 OMIM:608394 DOID:0110568" +MONDO:0012030 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12." "UMLS:C1842108 MESH:C564246 OMIM:608394 DOID:0110568" UBERON:0009581 MONDO:0000857 "OBSOLETE. A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa." "DOID:0080069" -MONDO:0014442 "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21." "UMLS:C2673874 Orphanet:110 ICD10:Q87.89 OMIM:615991 DOID:0110136 MESH:C567141" +MONDO:0014442 "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21." "UMLS:C2673874 Orphanet:110 OMIM:615991 DOID:0110136 MESH:C567141" UBERON:0005629 MONDO:0009590 "Orphanet:512 MESH:C562609 UMLS:C0268262 OMIM:249900 SCTID:68390005 GARD:0010674" -MONDO:0001293 "A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas." "UMLS:C0153485 NCIT:C3546 ICD10:C32.2 DOID:11472 ICD9:161.2 SCTID:363430007" +MONDO:0001293 "A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas." "UMLS:C0153485 NCIT:C3546 DOID:11472 ICD9:161.2 ICD10CM:C32.2 SCTID:363430007" HP:0030828 "A high-pitched whistling sound associated with labored breathing." "SNOMEDCT_US:56018004 UMLS:C0043144 MSH:D012135" -MONDO:0019401 "Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema." "SCTID:717191005 ICD10:N04.8 UMLS:C4274017 ICD10:N04.1 ICD10:N04.3 OMIM:612551 Orphanet:84271" +MONDO:0019401 "Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema." "SCTID:717191005 ICD10CM:N04.1 ICD10CM:N04.8 UMLS:C4274017 ICD10CM:N04.3 OMIM:612551 Orphanet:84271" http://identifiers.org/hgnc/4392 MONDO:0003239 PATO:0001543 "A physical quality inhering in a bearer by virtue of the bearer's disposition to being turned, bowed, or twisted without breaking." GO:0045766 "Any process that activates or increases angiogenesis." MONDO:0020649 "A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases." "ONCOTREE:WPSCC NCIT:C6981" -MONDO:0004785 "Inflammation of the eyelids near the eyelashes." "ICD9:373.9 ICD9:373.00 MESH:D001762 NCIT:C112183 SCTID:41446000 DOID:9423 ICD10:H01.9 ICD9:373.4 ICD9:373.0 ICD10:H01.00 UMLS:C0005741 ICD9:373.8 ICD10:H01.0" -MONDO:0005812 "An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system." "EFO:0007411 EFO:0007328 NCIT:C53482 SCTID:61700007 ICD9:487 ICD9:487.8 MESH:D007251 MESH:D009976 DOID:8469 ICD10:J11.1" +MONDO:0004785 "Inflammation of the eyelids near the eyelashes." "ICD9:373.9 ICD9:373.00 MESH:D001762 ICD10CM:H01.0 NCIT:C112183 SCTID:41446000 DOID:9423 ICD9:373.4 ICD9:373.0 UMLS:C0005741 ICD9:373.8" +MONDO:0005812 "An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system." "EFO:0007411 EFO:0007328 ICD10CM:J09-J18 NCIT:C53482 SCTID:61700007 ICD9:487 ICD9:487.8 MESH:D007251 MESH:D009976 DOID:8469" MONDO:0006832 "The least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The crest syndrome is a form of limited scleroderma." "UMLS:C0748540 MESH:D045745 SCTID:299276009 SCTID:298285004 EFO:1001017 DOID:1577" MONDO:0003446 "A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative." "SCTID:307597000 NCIT:C4171 UMLS:C0334348 ICDO:8405/0 DOID:5439" MONDO:0008391 "Orphanet:3106 UMLS:C1867146 UMLS:CN203672 OMIM:180750 MESH:C537183" CHEBI:37323 "A 7,8-dimethylbenzo[g]pteridine-2,4-dione that is isoalloxazine substituted by methyl groups at positions 7 and 8." http://identifiers.org/hgnc/1630 -MONDO:0008809 "Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986." "OMIM:207740 GARD:0002589 Orphanet:2926 ICD10:Q87.8 UMLS:C2930955 MESH:C535624" -MONDO:0017741 "A disease that has its basis in the disruption of protein O-linked glycosylation." "UMLS:CN227188 ICD10:E77.8 Orphanet:309447" +MONDO:0008809 "Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986." "ICD10CM:Q87.8 OMIM:207740 GARD:0002589 Orphanet:2926 UMLS:C2930955 MESH:C535624" +MONDO:0017741 "A disease that has its basis in the disruption of protein O-linked glycosylation." "ICD10CM:E77.8 UMLS:CN227188 Orphanet:309447" NCIT:C7057 SO:1000183 "An alteration of the genome that leads to a change in the structure or number of one or more chromosomes." -MONDO:0001971 "Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs." "ICD10:J67.0 SCTID:18690003 Orphanet:99906 DOID:14453 UMLS:C0015634 MedDRA:10016221 ICD9:495.0 NCIT:C34605 GARD:0006427" +MONDO:0001971 "Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs." "SCTID:18690003 Orphanet:99906 DOID:14453 UMLS:C0015634 MedDRA:10016221 ICD9:495.0 NCIT:C34605 GARD:0006427" GO:0051093 "Any process that stops, prevents or reduces the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult)." GO:0045738 "Any process that stops, prevents, or reduces the frequency, rate or extent of DNA repair." ENVO:01000703 "Hydrological precipitation is a process during which any product of the condensation of atmospheric water vapour is pulled to the planetary surface by gravity." @@ -33254,18 +33233,18 @@ MONDO:0033373 "OMIM:618004 UMLS:CN248512" http://identifiers.org/hgnc/21406 GO:0003020 "The process in which information about the levels of oxygen are received and are converted to a molecular signal by chemoreceptors in the carotid bodies and the aortic bodies." FOODON:03400139 "A multiple-component food product typically containing a protein source, a vegetable, and a potato, rice or cereal-based component packaged to be served after heating, either as separate items or courses or mixed as recipe components; see 21 CFR 102.26, 102.28 and 104.47 for nutritional quality guidelines."@en "http://www.langual.org/langual_thesaurus.asp?termid=A0139" -MONDO:0014545 "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene." "Orphanet:424027 OMIM:616230 DOID:0111451 UMLS:C4015619 ICD10:G40.3" +MONDO:0014545 "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene." "ICD10CM:G40.3 Orphanet:424027 OMIM:616230 DOID:0111451 UMLS:C4015619" http://identifiers.org/hgnc/7981 http://identifiers.org/hgnc/1633 -MONDO:0006502 "Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition." "EFO:1000637 MedDRA:10001052 ICD10:J80 GARD:0005698 NCIT:C3353" +MONDO:0006502 "Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition." "EFO:1000637 MedDRA:10001052 GARD:0005698 ICD10CM:J80 NCIT:C3353" http://identifiers.org/hgnc/5320 -MONDO:0003754 "Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause." "GARD:0005964 EFO:1001279 ICD10:G83.81 DOID:606 NCIT:C84601 SCTID:27982003 MESH:D018437" -MONDO:0013393 "Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression)." "ICD10:Q93.5 Orphanet:254351 OMIM:613729 UMLS:C3150999" +MONDO:0003754 "Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause." "GARD:0005964 EFO:1001279 ICD10CM:G83.81 DOID:606 NCIT:C84601 SCTID:27982003 MESH:D018437" +MONDO:0013393 "Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression)." "ICD10CM:Q93.5 Orphanet:254351 OMIM:613729 UMLS:C3150999" MONDO:0008398 "UMLS:C1867056 OMIM:180950" MONDO:0010581 "OMIM:304800 Orphanet:223 UMLS:C1563705" UBERON:0002029 MONDO:0003295 "A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body." "MESH:D018231 NCIT:C3748 UMLS:C0206654 ICDO:8890/1 DOID:5138" -MONDO:0015037 "Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." "UMLS:C4274991 Orphanet:100014 ICD10:Q04.3 UMLS:CN228903 SCTID:715821000" +MONDO:0015037 "Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres." "UMLS:C4274991 ICD10CM:Q04.3 Orphanet:100014 UMLS:CN228903 SCTID:715821000" GO:0060467 "Any process that decreases the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy)." MONDO:0007193 "OMIM:109720 UMLS:CN029380 Orphanet:186 UMLS:C0008312" MONDO:0006350 "A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." "UMLS:C0334274 DOID:4012 EFO:1000450 ICDO:8130/3 NCIT:C4122" @@ -33273,20 +33252,20 @@ GO:0070643 "Catalysis of the hydroxylation of C-25 of any form of vitamin D." http://identifiers.org/hgnc/4394 http://identifiers.org/hgnc/6783 UBERON:0005623 -MONDO:0016711 "A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache." "UMLS:C0751291 ICD10:C71.6 NCIT:C4956 ONCOTREE:DMBL Orphanet:251863 ICDO:9471/3 OMIM:155255 EFO:0005699" +MONDO:0016711 "A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache." "UMLS:C0751291 NCIT:C4956 ONCOTREE:DMBL Orphanet:251863 ICDO:9471/3 ICD10CM:C71.6 OMIM:155255 EFO:0005699" http://identifiers.org/hgnc/18248 MONDO:0008131 "UMLS:C1833831 Orphanet:1215 MESH:C563497 OMIM:165199" ECTO:0000163 "An exposure to organic cyclic compound." MONDO:0033372 "UMLS:CN244926 OMIM:617976 DOID:0080426" -MONDO:0007551 "A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." "DOID:0080510 ICD10:Q81.0 SCTID:294705005 ICD9:757.39 OMIM:131800 GARD:0002146 Orphanet:79400" -MONDO:0015496 "The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)" "MESH:C531735 UMLS:C0024421 MedDRA:10025391 GARD:0003342 MESH:D008260 Orphanet:156207 ICD10:Q38.2" +MONDO:0007551 "A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." "ICD10CM:Q81.0 DOID:0080510 SCTID:294705005 ICD9:757.39 OMIM:131800 GARD:0002146 Orphanet:79400" +MONDO:0015496 "The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)" "MESH:C531735 UMLS:C0024421 MedDRA:10025391 GARD:0003342 MESH:D008260 Orphanet:156207" HP:0000008 "An abnormality of the female internal genitalia." "UMLS:C4025900" http://identifiers.org/hgnc/7982 UBERON:0010561 UBERON:0002028 http://identifiers.org/hgnc/23801 http://identifiers.org/hgnc/1632 -MONDO:0006608 "A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching." "ICD10:L21.9 MESH:D012628 UMLS:C0036508 HP:0001051 ICD9:706.3 ICD9:690.1 NCIT:C111888 ICD10:L21 EFO:1000764 ICD9:690.10 DOID:8741" +MONDO:0006608 "A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching." "MESH:D012628 UMLS:C0036508 HP:0001051 ICD9:706.3 ICD9:690.1 NCIT:C111888 EFO:1000764 ICD9:690.10 DOID:8741" CHEBI:26375 UBERON:0005624 CHEBI:27573 @@ -33302,7 +33281,7 @@ MONDO:0015507 "OBSOLETE. Rare genetic liver disease." "Orphanet:156601 UMLS:CN19 NCBITaxon:56210 "GC_ID:1" MONDO:0002434 "A cancer involving a oculomotor nerve." "NCIT:C6995 SCTID:93929003 DOID:2816 UMLS:C0686417" NCBITaxon:32003 "PMID:16403855 PMID:25017294 PMID:25701846 PMID:28581923 PMID:11760943 GC_ID:11 PMID:10028253" -MONDO:0013870 "TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12)." "UMLS:C3553571 DOID:0070263 ICD10:E77.8 SCTID:732252005 OMIM:614727 GARD:0012413 Orphanet:314667" +MONDO:0013870 "TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12)." "UMLS:C3553571 DOID:0070263 SCTID:732252005 ICD10CM:E77.8 OMIM:614727 GARD:0012413 Orphanet:314667" MONDO:0030878 "OMIM:619125" UBERON:0010562 UBERON:0004426 @@ -33310,14 +33289,14 @@ http://identifiers.org/hgnc/20207 MONDO:0007195 "Orphanet:2695 UMLS:C2751431 OMIM:109740" GO:0046915 "Enables the transfer of transition metal ions from one side of a membrane to the other. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver." FOODON:03411087 -MONDO:0012421 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene." "UMLS:C1857809 OMIM:610154 ICD10:H90.3 DOID:0110501 MESH:C565716" +MONDO:0012421 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene." "UMLS:C1857809 OMIM:610154 DOID:0110501 MESH:C565716" MONDO:0013136 "Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." "MESH:C567751 Orphanet:217407 UMLS:C2751292 OMIM:613102 SCTID:724350009" UBERON:0005625 MONDO:0011780 "OMIM:607134 UMLS:C1846719" http://identifiers.org/hgnc/4396 MONDO:0004160 "The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause." "ICD9:625.6 DOID:724 UMLS:C0038437 NCIT:C35042" CHEBI:36047 "A drug used to treat or prevent bacterial infections." -MONDO:0009984 "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life." "DOID:0110421 MESH:C564840 OMIM:268025 ICD10:H35.5 UMLS:C1849400" +MONDO:0009984 "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life." "DOID:0110421 MESH:C564840 OMIM:268025 UMLS:C1849400" MONDO:0033374 "OMIM:618008 DOID:0080430 UMLS:CN248516" GO:0001961 "Any process that activates or increases the frequency, rate or extent of a cytokine mediated signaling pathway." GO:0009895 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances." @@ -33335,18 +33314,18 @@ UBERON:0003489 CL:0000060 "Skeletogenic cell that secretes dentine matrix, is derived from the odontogenic papilla, and develops from a preodontoblast cell." "FMA:62999 BTO:0001769 CALOHA:TS-0696" UBERON:0005884 MONDO:0002771 "Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause)." "DOID:3770 MESH:D011658 SCTID:51615001 UMLS:C0034069 NCIT:C26869" -MONDO:0008378 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene." "GARD:0010382 DOID:0110387 ICD10:H35.5 OMIM:180104 MESH:C566716 UMLS:C1867300" +MONDO:0008378 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene." "GARD:0010382 DOID:0110387 OMIM:180104 MESH:C566716 UMLS:C1867300" GO:0097746 "Any process that modulates the diameter of blood vessels." -MONDO:0018853 "OMIM:133200 UMLS:CN205162 Orphanet:495 ICD10:Q82.8" +MONDO:0018853 "OMIM:133200 UMLS:CN205162 Orphanet:495 ICD10CM:Q82.8" http://identifiers.org/hgnc/8925 http://identifiers.org/hgnc/9024 -MONDO:0016828 "Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." "UMLS:C4274077 OMIM:205950 Orphanet:260305 OMIM:182170 ICD10:D64.0 SCTID:717050005" +MONDO:0016828 "Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." "UMLS:C4274077 OMIM:205950 Orphanet:260305 OMIM:182170 SCTID:717050005 ICD10CM:D64.0" NCBITaxon:56212 "GC_ID:1" -MONDO:0013934 "Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency)." "OMIM:614868 Orphanet:314689 UMLS:C3553943 ICD10:D81.8" +MONDO:0013934 "Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency)." "OMIM:614868 ICD10CM:D81.8 Orphanet:314689 UMLS:C3553943" NBO:0000389 "\"Behavior related to involuntary movement in response to a stimulus.\" [NBO:GVG]" UBERON:0002025 UBERON:0010564 -MONDO:0008136 "GARD:0008419 UMLS:C4510723 UMLS:C1833797 OMIM:165550 SCTID:724999003 ICD10:H47.0 Orphanet:137902 DOID:0111531" +MONDO:0008136 "GARD:0008419 UMLS:C4510723 UMLS:C1833797 OMIM:165550 ICD10CM:H47.0 SCTID:724999003 Orphanet:137902 DOID:0111531" MONDO:0008822 "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene." "OMIM:208085 Orphanet:2697 DOID:0111353" MONDO:0030876 "OMIM:619142" MONDO:0017655 "Orphanet:306762" @@ -33356,9 +33335,9 @@ ENVO:01001684 "A layer which separates two portions of environmental material wh UBERON:0003488 HP:0012718 "Abnormal structure of the gastrointestinal tract." "UMLS:C4021073" http://identifiers.org/hgnc/8926 -MONDO:0016622 "Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." "Orphanet:2482 UMLS:C2931453 MESH:C537238 ICD10:Q76.4 SCTID:732263008 GARD:0003462" +MONDO:0016622 "Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." "Orphanet:2482 UMLS:C2931453 MESH:C537238 SCTID:732263008 GARD:0003462 ICD10CM:Q76.4" UBERON:0010565 -MONDO:0013918 "Orphanet:314585 OMIM:614846 Orphanet:314588 UMLS:CN203770 UMLS:C3553858 ICD10:Q99.8" +MONDO:0013918 "Orphanet:314585 OMIM:614846 Orphanet:314588 UMLS:CN203770 UMLS:C3553858 ICD10CM:Q99.8" GO:0043412 "The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties." UBERON:0004421 MONDO:0030877 "OMIM:619143" @@ -33369,17 +33348,17 @@ http://identifiers.org/hgnc/7728 GO:0042221 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus." MONDO:0021137 MONDO:0014017 "OMIM:615032" -MONDO:0008287 "Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome." "DOID:14761 Orphanet:380 NCIT:C35255 UMLS:C0265306 GARD:0006550 SCTID:32985001 MedDRA:10053878 ICD10:Q87.0 OMIM:175700 MESH:C537300" +MONDO:0008287 "Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome." "ICD10CM:Q87.0 DOID:14761 Orphanet:380 NCIT:C35255 UMLS:C0265306 GARD:0006550 SCTID:32985001 MedDRA:10053878 OMIM:175700 MESH:C537300" http://identifiers.org/hgnc/20202 -MONDO:0007134 "Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized." "SCTID:720747002 GARD:0004083 ICD10:Q84.6 Orphanet:1487 MESH:C537766 UMLS:C1862841 OMIM:106995" +MONDO:0007134 "Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized." "SCTID:720747002 GARD:0004083 ICD10CM:Q84.6 Orphanet:1487 MESH:C537766 UMLS:C1862841 OMIM:106995" MONDO:0009598 "OMIM:250410 Orphanet:166035 MESH:C565398 UMLS:C1855188" MONDO:0001208 "Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock." "SCTID:65710008 ICD9:518.81 NCIT:C27043 UMLS:C0264490" -MONDO:0000179 "Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." "NCIT:C14089 SCTID:77817004 OMIM:616038 Orphanet:2671 ICD9:759.89 UMLS:C0265218 GARD:0000102 ICD10:Q87.8 MESH:C536405 OMIM:256520 OMIMPS:256520" +MONDO:0000179 "Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." "NCIT:C14089 SCTID:77817004 OMIM:616038 ICD10CM:Q87.8 Orphanet:2671 ICD9:759.89 UMLS:C0265218 GARD:0000102 MESH:C536405 OMIM:256520 OMIMPS:256520" MONDO:0030873 "OMIM:619123" MONDO:0033371 "OMIM:617938 DOID:0080420 UMLS:CN244551" MONDO:0020854 "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene." "OMIM:618114" http://identifiers.org/hgnc/8923 -MONDO:0019736 "Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen." "Orphanet:93571 UMLS:C0268743 SCTID:722760002 NCIT:C123039 ICD10:N04.6 GARD:0008555 OMIM:609814" +MONDO:0019736 "Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen." "Orphanet:93571 UMLS:C0268743 SCTID:722760002 NCIT:C123039 GARD:0008555 OMIM:609814" MONDO:0007869 "Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop." "OMIM:149500 SCTID:34042008 GARD:0009738 UMLS:C0263382 MESH:C538130" http://identifiers.org/hgnc/16940 UBERON:0004688 @@ -33388,7 +33367,7 @@ MONDO:0013919 "OMIM:614847 DOID:0111313" MONDO:0015258 UBERON:0002027 GO:0060374 "The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation." -MONDO:0019010 "Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism." "Orphanet:657 ICD10:E16.1 NCIT:C122923 GARD:0003947" +MONDO:0019010 "Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism." "Orphanet:657 ICD10CM:E16.1 NCIT:C122923 GARD:0003947" MONDO:0005525 "A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood." "MESH:D015458 DOID:715 UMLS:C0023492 EFO:0005592" MONDO:0017653 "Orphanet:306756" MONDO:0013609 "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene." "GTR:AN1012156 Orphanet:564 UMLS:C3280036 GTR:AN1012610 UMLS:CN620433 OMIM:614175" @@ -33397,11 +33376,11 @@ NCIT:C17214 MONDO:0002331 "Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA." "UMLS:C0027720 SCTID:90708001 DOID:2527 MESH:D009401" http://identifiers.org/hgnc/13345 CHEBI:136859 "A compound that, on administration, undergoes conversion by biochemical (enzymatic), chemical (possibly following an enzymatic step), or physical (e.g. photochemical) activation processes before becoming the active agent for which it is a pro-agent." -MONDO:0018848 "Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle." "NCIT:C26876 Orphanet:49041 ICD9:593.4 MedDRA:10038979 OMIM:228800 ICD10:N13.5 GARD:0009568 SCTID:197808006 MESH:D012185" -MONDO:0009597 "SCTID:254084008 UMLS:C0432225 OMIM:250400 ICD10:Q78.5 Orphanet:2501 GARD:0003563 MESH:C537353" +MONDO:0018848 "Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle." "NCIT:C26876 Orphanet:49041 ICD9:593.4 MedDRA:10038979 OMIM:228800 GARD:0009568 SCTID:197808006 ICD10CM:N13.5 MESH:D012185" +MONDO:0009597 "SCTID:254084008 ICD10CM:Q78.5 UMLS:C0432225 OMIM:250400 Orphanet:2501 GARD:0003563 MESH:C537353" MONDO:0026045 "Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities." "GARD:0007480" CHEBI:38976 "A monocyclic arene that is benzene substituted with one or more alkyl groups." -MONDO:0024996 "GARD:0005441" +MONDO:0024996 "OMIM:276905 GARD:0005441" MONDO:0022333 "MESH:C535321 UMLS:C2930876 GARD:0008242" MONDO:0022599 "GARD:0000962" MONDO:0033370 "UMLS:CN244550 OMIM:617933 DOID:0080434" @@ -33412,39 +33391,39 @@ GO:1901862 "Any process that stops, prevents or reduces the frequency, rate or e UBERON:0002026 http://identifiers.org/hgnc/14544 MONDO:0030875 "OMIM:619141" -MONDO:0008133 "Orphanet:67036 SCTID:719517009 UMLS:C1833809 MESH:C537128 DOID:0111433 ICD10:H47.2 OMIM:165300 GARD:0010203" +MONDO:0008133 "Orphanet:67036 SCTID:719517009 UMLS:C1833809 MESH:C537128 DOID:0111433 ICD10CM:H47.2 OMIM:165300 GARD:0010203" MONDO:0017654 "Orphanet:306759" -MONDO:0018950 "3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." "DOID:0050710 SCTID:13144005 UMLS:CN239165 MESH:C535308 OMIM:210210 NCIT:C98674 Orphanet:6 OMIMPS:210200 UMLS:C0268600 GARD:0010954 OMIM:210200 ICD10:E71.1" +MONDO:0018950 "3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults." "DOID:0050710 SCTID:13144005 UMLS:CN239165 MESH:C535308 OMIM:210210 NCIT:C98674 Orphanet:6 OMIMPS:210200 UMLS:C0268600 GARD:0010954 OMIM:210200 ICD10CM:E71.1" GO:0042613 "A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen." MONDO:0021135 -MONDO:0015257 "Orphanet:1260 UMLS:CN199152 ICD10:I45.5" +MONDO:0015257 "Orphanet:1260 UMLS:CN199152 ICD10CM:I45.5" UBERON:0011766 -MONDO:0008703 "An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal." "ICD10:Q78.8 DOID:0080052 UMLS:C0265260 NCIT:C3816 Orphanet:2098 OMIM:609441 OMIM:200700 GARD:0001300" +MONDO:0008703 "An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal." "ICD10CM:Q78.8 NCIT:C3816 DOID:0080052 UMLS:C0265260 OMIM:609441 OMIM:200700 Orphanet:2098 GARD:0001300" MONDO:0023538 "MESH:C536893 UMLS:C2931361" http://identifiers.org/hgnc/26560 CL:2000013 "Any skin fibroblast that is part of a skin of abdomen." ENVO:00000017 "A geographical feature associated with water with a halinity above 30 ppt (roughly 35 g/L)." -MONDO:0008476 "Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)." "OMIM:184250 ICD9:758.89 SCTID:702350003 DOID:0080028 Orphanet:93346 GARD:0000134 ICD10:Q77.7" +MONDO:0008476 "Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)." "OMIM:184250 ICD9:758.89 ICD10CM:Q77.7 SCTID:702350003 DOID:0080028 Orphanet:93346 GARD:0000134" MONDO:0030871 "OMIM:619122" UBERON:0010569 HP:0000278 "An abnormality in which the mandible is mislocalised posteriorly." "MSH:D063173 UMLS:C3494422" HP:0010528 "Inability to recognize faces of familiar persons." "MSH:D020238 SNOMEDCT_US:18358003 UMLS:C0234512" UBERON:0003485 UBERON:0010303 -MONDO:0020496 "An instance of porencephaly that is caused by an inherited modification of the individual's genome." "GARD:0002258 Orphanet:99810 OMIM:175780 OMIM:614483 OMIMPS:175780 ICD10:Q04.6" -MONDO:0019851 "An instance of primary ovarian failure that is acquired during the lifetime of the individual." "UMLS:C4303540 ICD10:E28.8 SCTID:717954003 Orphanet:95709" -MONDO:0017392 "Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." "SCTID:231934009 Orphanet:293462 ICD9:371.56 ICD10:H18.5" +MONDO:0020496 "An instance of porencephaly that is caused by an inherited modification of the individual's genome." "GARD:0002258 Orphanet:99810 ICD10CM:Q04.6 OMIM:175780 OMIM:614483 OMIMPS:175780" +MONDO:0019851 "An instance of primary ovarian failure that is acquired during the lifetime of the individual." "UMLS:C4303540 ICD10CM:E28.8 SCTID:717954003 Orphanet:95709" +MONDO:0017392 "Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." "SCTID:231934009 Orphanet:293462 ICD9:371.56 ICD10CM:H18.5" GO:0048699 "The process in which nerve cells are generated. This includes the production of neuroblasts and their differentiation into neurons." MONDO:0100286 "Bronciolitis caused by infection with respiratory syncytial virus." http://identifiers.org/hgnc/9020 -MONDO:0009419 "Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." "OMIM:241080 GARD:0005592 MESH:C536742 ICD9:759.89 SCTID:237616002 ICD10:Q87.8 UMLS:C0342286 Orphanet:3464" -MONDO:0018002 "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases." "Orphanet:329336 UMLS:C4511138 SCTID:725464001 ICD10:G71.3 OMIM:616479" -MONDO:0010463 "X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." "Orphanet:163966 UMLS:C3275476 OMIM:300863 SCTID:719837003 ICD10:Q87.8" +MONDO:0009419 "Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." "OMIM:241080 GARD:0005592 MESH:C536742 ICD9:759.89 SCTID:237616002 ICD10CM:Q87.8 UMLS:C0342286 Orphanet:3464" +MONDO:0018002 "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases." "Orphanet:329336 UMLS:C4511138 SCTID:725464001 OMIM:616479 ICD10CM:G71.3" +MONDO:0010463 "X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males." "Orphanet:163966 UMLS:C3275476 OMIM:300863 SCTID:719837003 ICD10CM:Q87.8" http://identifiers.org/hgnc/7989 MONDO:0022963 "A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)" "ONCOTREE:DIA ICDO:9412/1 GARD:0009617 NCIT:C9476 UMLS:C0457179" MONDO:0015256 "Orphanet:1258" FOODON:03411312 "Wheat (*Triticum* spp.) is a domesticated grass from the Levant that is cultivated worldwide. Major cultivated species of wheat:\n\n * Common wheat or Bread wheat (*Triticum aestivum*) A hexaploid species that is the most widely cultivated in the world.\n\n * Durum (*Triticum durum*) The only tetraploid form of wheat widely used today, and the second most widely cultivated wheat.\n\n * Einkorn (*Triticum monococcum*) A diploid species with wild and cultivated variants. Domesticated at the same time as emmer wheat, but never reached the same importance.\n\n * Emmer (*Triticum dicoccon*) A tetraploid species, cultivated in ancient times but no longer in widespread use.\n\n * Spelt (*Triticum spelta*) Another hexaploid species cultivated in limited quantities."@en -MONDO:0005893 "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma." "ICDO:8150/3 Orphanet:506098 ICD10:C25.4 EFO:0007416 NCIT:C3770 DOID:1798 ICD9:157.4 UMLS:C1328479 MESH:D018273 SCTID:254612002" +MONDO:0005893 "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma." "ICDO:8150/3 Orphanet:506098 EFO:0007416 NCIT:C3770 DOID:1798 ICD9:157.4 UMLS:C1328479 MESH:D018273 SCTID:254612002 ICD10CM:C25.4" MONDO:0004148 "An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma." "UMLS:C1333753 ICDO:8503/3 NCIT:C5743 DOID:7221" MONDO:0017651 "Orphanet:306750" UBERON:0001089 @@ -33453,12 +33432,11 @@ UBERON:0002021 MONDO:0013824 "Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene." "DOID:0110986 OMIM:614615 Orphanet:475 UMLS:C3553264" GO:0048232 "Generation of the male gamete; specialised haploid cells produced by meiosis and along with a female gamete takes part in sexual reproduction." MONDO:0100008 "An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated." -MONDO:0015384 "Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus." "ICD10:Q38.3 Orphanet:141071" +MONDO:0015384 "Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus." "ICD10CM:Q38.3 Orphanet:141071" CHEBI:24319 "An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of glutamate--ammonia ligase (EC 6.3.1.2)." -MONDO:0000863 "Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy." "OMIM:500011 OMIM:600462 MESH:C536101 OMIM:613561 Orphanet:2598 OMIMPS:600462 SCTID:724138007 DOID:0080099 ICD10:G71.3 GARD:0003885 UMLS:CN220387" +MONDO:0000863 "Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy." "OMIM:500011 OMIM:600462 MESH:C536101 OMIM:613561 ICD10CM:G71.3 Orphanet:2598 OMIMPS:600462 SCTID:724138007 DOID:0080099 GARD:0003885 UMLS:CN220387" MONDO:0001004 "Pneumoconiosis caused by exposure to slate dust." "NCIT:C35397 ICD9:502 SCTID:1259003 DOID:10330 UMLS:C0340186" CL:0000823 "A natural killer cell that is developmentally immature and expresses natural killer cell receptors (NKR)." -MONDO:0023539 http://identifiers.org/hgnc/17042 MONDO:0030872 "OMIM:619132" HP:0000118 "A phenotypic abnormality." "UMLS:C4021819" @@ -33468,13 +33446,13 @@ UBERON:0003484 MONDO:0005348 "An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively." "MESH:D007627 SCTID:33659008 EFO:0004212 NCIT:C3145 ICD9:701.4" MONDO:0013917 "Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene." "OMIM:614845 DOID:0111123 UMLS:C3541853 Orphanet:3156" UBERON:0009580 -MONDO:0020358 "Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal)." "Orphanet:98947 ICD10:Q14.2 GARD:0001438" -MONDO:0015255 "ICD10:Q87.2 Orphanet:1256 MESH:C536292 UMLS:C2931162 GARD:0003057" +MONDO:0020358 "Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal)." "Orphanet:98947 ICD10CM:Q14.2 GARD:0001438" +MONDO:0015255 "Orphanet:1256 MESH:C536292 ICD10CM:Q87.2 UMLS:C2931162 GARD:0003057" MONDO:0100204 "A disease caused by infection with parainfluenza virus type 2." "OMOP:4289924" MONDO:0017652 "Orphanet:306753 UMLS:CN203543" -MONDO:0023275 "Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987." "GARD:0002557 SCTID:707530009 MESH:C537292 ICD10:Q85.8 UMLS:C2931468 Orphanet:2111 ICD9:759.6" +MONDO:0023275 "Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987." "GARD:0002557 SCTID:707530009 MESH:C537292 UMLS:C2931468 Orphanet:2111 ICD9:759.6" UBERON:0002020 -MONDO:0005015 "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." "HP:0000819 ICD10:E08-E13 NCIT:C2985 ICD10:E10.E14 UMLS:C0011847 UMLS:C0011849 ICD10:E11 EFO:0000400 DOID:9351 ICD9:250 SCTID:73211009 OMIM:612227 MESH:D003920" +MONDO:0005015 "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." "HP:0000819 NCIT:C2985 ICD10CM:E08-E13 UMLS:C0011847 UMLS:C0011849 EFO:0000400 DOID:9351 ICD9:250 SCTID:73211009 OMIM:612227 MESH:D003920" PATO:0000141 "A morphology quality inhering in a bearer by virtue of the bearer's relative position, shape, arrangements and connectivity of an organism's various parts; the pattern underlying its form." UBERON:0001088 MONDO:0003788 "An embryonal carcinoma that arises from the testis during childhood." "DOID:6162 NCIT:C6545 UMLS:C1333007" @@ -33484,14 +33462,14 @@ CHEBI:48001 "A compound, usually an anti-bacterial agent or a toxin, which inhib CHR:9606-chr7q http://identifiers.org/hgnc/17043 http://identifiers.org/hgnc/8086 -MONDO:0005451 "A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake." "EFO:0005203 ICD9:307.50 NCIT:C89332 ICD10:F50 ICD10:F50.9 SCTID:72366004 ICD9:307.59 DOID:8670" +MONDO:0005451 "A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake." "EFO:0005203 ICD9:307.50 NCIT:C89332 SCTID:72366004 ICD9:307.59 DOID:8670 ICD10CM:F50-F59" NCBITaxon:89940 "GC_ID:1" MONDO:0004956 "A carcinoma that arises from the prostate gland and has spread to other anatomic sites." "NCIT:C8946 EFO:0000196 SCTID:314994000 ICD9:199.1" MONDO:0005013 "An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." "ICDO:9243/3 UMLS:C0862878 EFO:0000394 ONCOTREE:DDCHS NCIT:C6476" -MONDO:0008260 "Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." "OMIM:173650 DOID:0060472 Orphanet:2908 MESH:C536321 SCTID:238836000 ICD10:Q81.8 GARD:0004391" -MONDO:0002443 "Excessive clenching of the jaw and grinding of the teeth." "ICD10:G47.63 ICD10:F45.8 NCIT:C73511 ICD9:327.53 HP:0003763 DOID:2846" +MONDO:0008260 "Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." "OMIM:173650 DOID:0060472 Orphanet:2908 ICD10CM:Q81.8 MESH:C536321 SCTID:238836000 GARD:0004391" +MONDO:0002443 "Excessive clenching of the jaw and grinding of the teeth." "NCIT:C73511 ICD9:327.53 HP:0003763 DOID:2846" MONDO:0021533 "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "OMIM:114900 UMLS:C0349535 SCTID:276816003 MESH:C562842 NCIT:C4637" -MONDO:0008268 "Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986." "MESH:C536331 SCTID:82639001 GARD:0004413 OMIM:174310 Orphanet:2917 ICD10:Q87.2 ICD9:625.4" +MONDO:0008268 "Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986." "MESH:C536331 SCTID:82639001 GARD:0004413 ICD10CM:Q87.2 OMIM:174310 Orphanet:2917 ICD9:625.4" MONDO:0100407 "Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)" "NCIT:C131504 NCIT:C131505" UBERON:0003221 UBERON:0010305 @@ -33500,13 +33478,13 @@ MONDO:0022338 "GARD:0010577" http://identifiers.org/hgnc/6524 http://identifiers.org/hgnc/804 PATO:0001305 "A temperature which is relatively high." -MONDO:0009212 "Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms." "GARD:0006404 ICD9:286.3 MESH:D005171 Orphanet:328 ICD10:D68.2 DOID:2222 OMIM:227600 SCTID:37350004 NCIT:C98940" +MONDO:0009212 "Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms." "GARD:0006404 ICD9:286.3 MESH:D005171 ICD10CM:D68.2 Orphanet:328 DOID:2222 OMIM:227600 SCTID:37350004 NCIT:C98940" HP:0011032 "An abnormality of the regulation of body fluids." "SNOMEDCT_US:190902006 UMLS:C2364164 SNOMEDCT_US:1860003" MONDO:0013616 "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene." "Orphanet:189439 UMLS:C3280094 OMIM:614190" MONDO:0014726 "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene." "DOID:0110176 UMLS:C4225253 Orphanet:466775 OMIM:616668 EFO:1001983" CHEBI:46629 http://identifiers.org/hgnc/5326 -MONDO:0016255 "A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma." "UMLS:C1519858 ICD10:C54.1 ICD10:C54.8 ICD10:C54.0 NCIT:C40181 ICD10:C54.2 ICD10:C54.3 Orphanet:213589" +MONDO:0016255 "A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma." "ICD10CM:C54.1 ICD10CM:C54.2 UMLS:C1519858 ICD10CM:C54.3 ICD10CM:C54.8 NCIT:C40181 ICD10CM:C54.0 Orphanet:213589" MONDO:0009336 "OMIM:235500 Orphanet:99931" UBERON:0011769 GO:1904081 "Any positive regulation of transcription from RNA polymerase II promoter that is involved in neuron differentiation." @@ -33526,7 +33504,7 @@ MONDO:0009335 "Orphanet:93581 Orphanet:2134 Orphanet:93579 OMIM:235400 Orphanet MONDO:0044351 "An disease or disorder caused by infection with Schistosoma intercalatum." "NCIT:C35364 ICD9:120.8 SCTID:52179003 UMLS:C0276932" MONDO:0017650 "Orphanet:306747 UMLS:CN227170" MONDO:0004293 "A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue." "UMLS:C0749163 DOID:7587 NCIT:C4945" -MONDO:0004746 "A myopathy that involves the extra-ocular muscle." "ICD10:H05.82 SCTID:57130002 ICD9:376.82 UMLS:C0155286 DOID:929" +MONDO:0004746 "A myopathy that involves the extra-ocular muscle." "SCTID:57130002 ICD9:376.82 UMLS:C0155286 DOID:929" UBERON:0007181 http://identifiers.org/hgnc/24160 MONDO:0021139 @@ -33546,10 +33524,10 @@ NCBITaxon:11617 "GC_ID:1" UBERON:0001085 MONDO:0011538 "OMIM:605321 UMLS:C1854405 MESH:C565340" UBERON:0000988 -MONDO:0017639 "SCTID:230293003 Orphanet:306686 UMLS:C0393565 ICD10:G21.2" +MONDO:0017639 "ICD10CM:G21.2 SCTID:230293003 Orphanet:306686 UMLS:C0393565" http://identifiers.org/hgnc/10602 ECTO:0000015 "A exposure event involving the interaction of an exposure receptor to environmental material." -MONDO:0018553 "Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications." "UMLS:CN237554 NCIT:C123254 Orphanet:431347 SCTID:253899000 ICD10:Q64.4" +MONDO:0018553 "Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications." "UMLS:CN237554 NCIT:C123254 Orphanet:431347 ICD10CM:Q64.4 SCTID:253899000" UBERON:0002283 CHEBI:13850 "An apoprotein is a protein devoid of its characteristic prosthetic group or metal." CL:1000278 "A smooth muscle cell that is part of the ileum." "FMA:15066" @@ -33573,15 +33551,15 @@ MONDO:0003878 "A uveal melanoma that arises from the choroid. It is the most com CHR:9606-chr9q33.3-q34.11 UBERON:0001084 GO:0007281 "The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism." -MONDO:0002253 "A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue." "MESH:D055009 SCTID:48210000 ICD9:721.9 DOID:2247 ICD9:721.3 ICD10:M47 ICD10:M47.9 UMLS:C0038019" -MONDO:0015579 "Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." "SCTID:5300004 Orphanet:163596 OMIM:236750 ICD10:D56.0 ICD9:282.49" +MONDO:0002253 "A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue." "MESH:D055009 SCTID:48210000 ICD9:721.9 DOID:2247 ICD10CM:M47 ICD9:721.3 UMLS:C0038019" +MONDO:0015579 "Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." "SCTID:5300004 Orphanet:163596 OMIM:236750 ICD10CM:D56.0 ICD9:282.49" MONDO:0013783 "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene." "UMLS:C3281027 Orphanet:98938 OMIM:614497" MONDO:0015222 "A respiratory or mediastinal malformation that is part of a larger syndrome." "UMLS:CN226638 Orphanet:108995" GO:0044425 "OBSOLETE. Any constituent part of a membrane, a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins." GO:0050974 "The series of events in which a mechanical stimulus is received and converted into a molecular signal as part of sensory perception." -MONDO:0003010 "A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells." "SCTID:254916002 Orphanet:319287 NCIT:C4524 ICD10:C64 DOID:4463 ICDO:8316/3 UMLS:C0346249 ICD9:189.0" +MONDO:0003010 "A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells." "SCTID:254916002 Orphanet:319287 NCIT:C4524 DOID:4463 ICDO:8316/3 UMLS:C0346249 ICD9:189.0 ICD10CM:C64" HsapDv:0000084 "Child stage that refers to a child who is over 24 months and under 6 years old." -MONDO:0019501 "A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." "UMLS:C0271097 OMIM:276900 OMIM:500004 MESH:D052245 OMIM:602097 OMIM:276901 OMIM:606943 OMIM:614504 NCIT:C85217 OMIMPS:276900 UMLS:C1568248 OMIM:276902 GARD:0007843 OMIM:612632 OMIM:602083 Orphanet:886 OMIM:276904 OMIM:614869 ICD10:H35.5 OMIM:605472 MedDRA:10063396 OMIM:611383 SCTID:57838006 DOID:0050439 OMIM:601067 OMIM:614990" +MONDO:0019501 "A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss." "UMLS:C0271097 OMIM:276900 OMIM:500004 MESH:D052245 OMIM:602097 OMIM:276901 OMIM:606943 OMIM:614504 NCIT:C85217 ICD10CM:H35.5 OMIMPS:276900 UMLS:C1568248 OMIM:276902 GARD:0007843 OMIM:612632 OMIM:602083 Orphanet:886 OMIM:276904 OMIM:614869 OMIM:605472 MedDRA:10063396 OMIM:611383 SCTID:57838006 DOID:0050439 OMIM:601067 OMIM:614990" MONDO:0020189 "Orphanet:98599" MONDO:0024419 "Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone." "SCTID:359643005 UMLS:C1282952 NCIT:C114470" MONDO:0024294 "Skin diseases caused by bacteria, fungi, parasites, or viruses." "MESH:D012874" @@ -33592,7 +33570,7 @@ http://identifiers.org/hgnc/28949 MONDO:0012585 "Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene." "OMIM:610938" OBI:0000011 "A processual entity that realizes a plan which is the concretization of a plan specification."@en GO:0046649 "A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor." -MONDO:0001137 "An disease caused by infection with Murray Valley encephalitis virus." "ICD9:062.4 DOID:10842 UMLS:C0153066 ICD10:A83.4 SCTID:66454007" +MONDO:0001137 "An disease caused by infection with Murray Valley encephalitis virus." "ICD9:062.4 DOID:10842 UMLS:C0153066 ICD10CM:A83.4 SCTID:66454007" SO:0001645 "A measurable sequence feature that varies within a population." MONDO:0014299 "OMIM:615670 Orphanet:93921 UMLS:C3810283" UBERON:0003483 @@ -33601,7 +33579,7 @@ MONDO:0000752 http://identifiers.org/hgnc/823 UBERON:0001087 http://identifiers.org/hgnc/14561 -MONDO:0019636 "Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter." "Orphanet:93100 NCIT:C101220 ICD10:Q60.0 UMLS:C0266294 MedDRA:10053624" +MONDO:0019636 "Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter." "Orphanet:93100 NCIT:C101220 UMLS:C0266294 MedDRA:10053624 ICD10CM:Q60.0" GO:0043217 "The process of preserving the structure and function of mature myelin. This includes maintaining the compact structure of myelin necessary for its electrical insulating characteristics as well as the structure of non-compact regions such as Schmidt-Lantermann clefts and paranodal loops. This does not include processes responsible for maintaining the nodes of Ranvier, which are not part of the myelin sheath." GO:0045987 "Any process that activates or increases the frequency, rate or extent of smooth muscle contraction." NCBITaxon:11619 @@ -33609,7 +33587,7 @@ HP:0000632 "Abnormality of tear production." "UMLS:C4021801" MONDO:0017637 "Orphanet:306679 UMLS:CN203533" http://identifiers.org/hgnc/10600 MONDO:0007387 "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene." "Orphanet:199 ICD9:759.89 OMIM:122470 UMLS:CN029798 DOID:0080505 UMLS:C0270972 SCTID:40354009" -MONDO:0019212 "Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities." "OMIM:607728 ICD9:692.75 OMIM:614714 SCTID:41495000 OMIM:616063 OMIM:612293 ICD10:Q82.8 OMIM:612353 Orphanet:79152 OMIM:616631 GARD:0010983 OMIM:175900" +MONDO:0019212 "Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities." "OMIM:607728 ICD9:692.75 OMIM:614714 SCTID:41495000 OMIM:616063 OMIM:612293 OMIM:612353 Orphanet:79152 ICD10CM:Q82.8 OMIM:616631 GARD:0010983 OMIM:175900" GO:0016811 "Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a linear amide." UBERON:0002285 MONDO:0005635 "A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy." "DOID:2609 NCIT:C3726 EFO:0007133 UMLS:C0206622 ICDO:8932/0 MESH:D018194" @@ -33621,18 +33599,18 @@ HP:0100790 "MSH:D006547 UMLS:C0019270 SNOMEDCT_US:414403008 SNOMEDCT_US:5251500 GO:0009124 "The chemical reactions and pathways resulting in the formation of a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar." MONDO:0013243 "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene." "OMIM:613376 Orphanet:139525 UMLS:C3150619 DOID:0111209" http://identifiers.org/hgnc/4118 -MONDO:0010359 "Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features." "UMLS:C4305529 SCTID:717790004 ICD10:N25.8 Orphanet:93623 UMLS:C1845167 MESH:C564487 OMIM:300555 Orphanet:1652" +MONDO:0010359 "Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features." "UMLS:C4305529 SCTID:717790004 ICD10CM:N25.8 Orphanet:93623 UMLS:C1845167 MESH:C564487 OMIM:300555 Orphanet:1652" MONDO:0004052 "A carcinoma that arises from the transitional zone at the junction of the rectum and anus." "NCIT:C5555 DOID:6959 UMLS:C1333074" MONDO:0012573 "Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene." "OMIM:610878 MESH:C567053 UMLS:C1970483 Orphanet:289365" MONDO:0013936 "NCIT:C155758 Orphanet:912 OMIM:614870 UMLS:C3553947 MESH:C566422 DOID:0080481" GO:0051445 "Any process that modulates the rate or extent of progression through the meiotic cell cycle." HP:0010606 "An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling." "SNOMEDCT_US:1489008 UMLS:C4280376 SNOMEDCT_US:397513003 MSH:D006726 UMLS:C0019917" CHEBI:47868 "A chemical compound that can be excited by light of a specific wavelength and subsequently transfer energy to a chosen reactant. This is commonly molecular oxygen within a cancer tissue, which is converted to (highly rective) singlet state oxygen. This rapidly reacts with any nearby biomolecules, ultimately killing the cancer cells." -MONDO:0001950 "UMLS:C0155135 ICD10:H18.71 DOID:1436 ICD9:371.71 SCTID:14748007" +MONDO:0001950 "UMLS:C0155135 DOID:1436 ICD9:371.71 SCTID:14748007" GO:0007596 "The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers." UBERON:0004681 NBO:0000433 "\"A reflex where the body reacts to pain or unpleasant stimuli by trying to move itself away from the source.\" [NBO:GVG]" -MONDO:0015762 "Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." "Orphanet:172 DOID:0070221 OMIM:615878 OMIM:601847 OMIM:211600 ICD10:K76.8 OMIMPS:211600 OMIM:602347 UMLS:C0268312 NCIT:C84453" +MONDO:0015762 "Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin." "Orphanet:172 DOID:0070221 OMIM:615878 OMIM:601847 ICD10CM:K76.8 OMIM:211600 OMIMPS:211600 OMIM:602347 UMLS:C0268312 NCIT:C84453" http://identifiers.org/hgnc/15761 UBERON:0016405 MONDO:0018833 "UMLS:CN776863 Orphanet:482092" @@ -33641,46 +33619,46 @@ MONDO:0022586 "GARD:0000923" MONDO:0020183 "UMLS:CN207043 Orphanet:98593" UBERON:0000983 GO:0120316 "The assembly and organization of the sperm flagellum, the microtubule-based axoneme and associated structures that are part of a sperm flagellum (or cilium)." -MONDO:0011575 "Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay." "UMLS:C1854108 SCTID:720855003 GARD:0003480 Orphanet:66625 ICD10:Q87.0 OMIM:605627 MESH:C565313" +MONDO:0011575 "Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay." "ICD10CM:Q87.0 UMLS:C1854108 SCTID:720855003 GARD:0003480 Orphanet:66625 OMIM:605627 MESH:C565313" HP:0003473 "A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." "UMLS:C0947912" MONDO:0700064 "A chromosomal abnormality in which there is an addition or loss of chromosomes within a set." "NCIT:C2873" UBERON:0001081 -MONDO:0014034 "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3." "GARD:0012815 OMIM:615074 Orphanet:363686 ICD10:Q87.8 UMLS:C3554448 DOID:0070048" +MONDO:0014034 "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3." "GARD:0012815 OMIM:615074 Orphanet:363686 ICD10CM:Q87.8 UMLS:C3554448 DOID:0070048" MONDO:0017635 "Orphanet:306666 UMLS:CN203530" MONDO:0013937 "Orphanet:772 Orphanet:44 UMLS:C3553948 NCIT:C155759 OMIM:614871" http://identifiers.org/hgnc/8918 MONDO:0021122 CL:0002149 "An epithelial cell of the uterus." "FMA:256161" -MONDO:0017851 "A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents." "DOID:0050467 Orphanet:495 Orphanet:317 MedDRA:10049048 UMLS:C0265961 SCTID:70041004 MESH:D056266 NCIT:C84696 OMIM:133200 MESH:C536154 OMIMPS:133200 Orphanet:316 ICD10:Q82.8 GARD:0003096" +MONDO:0017851 "A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents." "DOID:0050467 Orphanet:495 Orphanet:317 MedDRA:10049048 UMLS:C0265961 ICD10CM:Q82.8 SCTID:70041004 MESH:D056266 NCIT:C84696 OMIM:133200 MESH:C536154 OMIMPS:133200 Orphanet:316 GARD:0003096" GO:0015804 "The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." GO:0044424 "OBSOLETE. Any constituent part of the living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm." MONDO:0000397 "A form of cerebral palsy caused by damage to cerebellar structures." "UMLS:C0394005 DOID:0050670 NCIT:C97168 SCTID:278512001 ICD9:343.8" -MONDO:0018745 "Pemphigus is a group of chronic autoimmune skin diseases characterised by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants." "ICD10:L10.2 UMLS:CN227541 ICD10:L10.4 Orphanet:46485 ICD10:L10.3" +MONDO:0018745 "Pemphigus is a group of chronic autoimmune skin diseases characterised by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants." "ICD10CM:L10.2 UMLS:CN227541 ICD10CM:L10.4 ICD10CM:L10.3 Orphanet:46485" MONDO:0015778 "A hypothyroidism that is part of a larger syndrome." "Orphanet:177107 UMLS:CN226739" -MONDO:0008565 "Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck." "UMLS:C3495590 GARD:0005204 MESH:C536909 ICD10:Q89.2 Orphanet:93953 OMIM:188455 SCTID:717331000" +MONDO:0008565 "Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck." "UMLS:C3495590 GARD:0005204 MESH:C536909 Orphanet:93953 OMIM:188455 SCTID:717331000 ICD10CM:Q89.2" MONDO:0000276 "A disease caused by infection with Powassan virus." "DOID:0050179 UMLS:C1563215 SCTID:416707008 UMLS:C0032858 ICD9:063.8" MONDO:0024340 "A neuroblastoma arising from the retina." "NCIT:C6956" MONDO:0018834 "Orphanet:482601" MONDO:0020184 "UMLS:CN227808 Orphanet:98594" http://identifiers.org/hgnc/10606 -MONDO:0014144 "Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures." "OMIM:615356 GARD:0012543 UMLS:C3809236 Orphanet:369847 Orphanet:369840 DOID:0110287 ICD10:G71.0" +MONDO:0014144 "Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures." "OMIM:615356 ICD10CM:G71.0 GARD:0012543 UMLS:C3809236 Orphanet:369847 Orphanet:369840 DOID:0110287" GO:0007276 "The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell." MONDO:0013938 "OMIM:614872 UMLS:C3888385 DOID:0080482" -MONDO:0015239 "SCTID:68092007 ICD10:Q25.7 Orphanet:1138" +MONDO:0015239 "SCTID:68092007 Orphanet:1138 ICD10CM:Q25.7" GO:0034255 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving urea." -MONDO:0017324 "Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." "ICD10:E83.3 UMLS:CN202957 OMIM:613312 DOID:0050949 SCTID:90505000 Orphanet:289176 OMIM:241520" +MONDO:0017324 "Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." "UMLS:CN202957 OMIM:613312 DOID:0050949 SCTID:90505000 ICD10CM:E83.3 Orphanet:289176 OMIM:241520" MONDO:0044776 "Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488)." "OMIM:612885" http://identifiers.org/hgnc/11802 -MONDO:0004955 "A combination of medical conditions that, when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose." "UMLS:C0524620 DOID:14221 OMIM:605552 Orphanet:411969 NCIT:C84442 EFO:0000195 ICD10:E88.81 SCTID:237602007 OMIM:615812 MESH:D024821 ICD9:277.7" -MONDO:0010574 "X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition." "ICD10:Q23.8 UMLS:CN206181 NCIT:C124839 Orphanet:1568 OMIM:304340 DOID:0060800 Orphanet:85329 ICD10:Q87.8 GARD:0008520 UMLS:C0796254 SCTID:719139003 Orphanet:85335" +MONDO:0004955 "A combination of medical conditions that, when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose." "UMLS:C0524620 DOID:14221 OMIM:605552 Orphanet:411969 NCIT:C84442 ICD10CM:E88.81 EFO:0000195 SCTID:237602007 OMIM:615812 MESH:D024821 ICD9:277.7" +MONDO:0010574 "X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition." "UMLS:CN206181 NCIT:C124839 Orphanet:1568 OMIM:304340 DOID:0060800 Orphanet:85329 ICD10CM:Q23.8 GARD:0008520 UMLS:C0796254 SCTID:719139003 ICD10CM:Q87.8 Orphanet:85335" MONDO:0016436 "Orphanet:228224 UMLS:CN226929" -MONDO:0020185 "Orphanet:98595 ICD10:L68.2" +MONDO:0020185 "Orphanet:98595 ICD10CM:L68.2" MONDO:0018831 "UMLS:CN776824 Orphanet:482072" UBERON:0000981 GO:0070130 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion." -MONDO:0009204 "Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." "SCTID:719400000 GARD:0002229 ICD10:Q87.8 MESH:C565578 Orphanet:1972 UMLS:C1856891 OMIM:227270" +MONDO:0009204 "Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." "SCTID:719400000 GARD:0002229 MESH:C565578 ICD10CM:Q87.8 Orphanet:1972 UMLS:C1856891 OMIM:227270" CHEBI:33459 -MONDO:0012757 "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies." "Orphanet:137631 OMIM:611926 UMLS:C3150156 SCTID:721977007 ICD10:D82.8" +MONDO:0012757 "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies." "Orphanet:137631 ICD10CM:D82.8 OMIM:611926 UMLS:C3150156 SCTID:721977007" MONDO:0021292 "A in situ carcinoma that involves the body of stomach." "SCTID:92549006 NCIT:C4430 UMLS:C0345805" MONDO:0013939 "Orphanet:772 UMLS:C3553951 Orphanet:44 OMIM:614873" UBERON:0001083 @@ -33692,7 +33670,7 @@ MONDO:0003909 "A rare, benign neoplasm that arises from the Bartholin gland and MONDO:0017633 "Orphanet:306640 UMLS:CN227165" CL:0002021 "An enucleate erythrocyte that is GlyA-positive." http://identifiers.org/hgnc/7717 -MONDO:0019033 "Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG)." "ICD10:Q82.8 ICD9:757.39 SCTID:51603000 UMLS:C0263417 GARD:0001643 Orphanet:671" +MONDO:0019033 "Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG)." "ICD9:757.39 SCTID:51603000 UMLS:C0263417 GARD:0001643 Orphanet:671 ICD10CM:Q82.8" MONDO:0016435 "UMLS:CN226928 Orphanet:228221" MONDO:0020186 "Orphanet:98596" GO:0009072 "The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan)." @@ -33702,7 +33680,7 @@ http://identifiers.org/hgnc/10604 GO:0032543 "The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code." UBERON:0000982 MONDO:0043762 "An abnormal pregnancy in which the conception is implanted in the fallopian tube." "MESH:D011274 NCIT:C92946 SCTID:79586000" -MONDO:0025514 "Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia." "ICD9CM:709.1 DOID:0040099 GARD:0012784 UMLS:C0343081 Orphanet:542643 ICD10CM:L95.0 ICD10:L95.0 ICD9:709.1 SCTID:238762002" +MONDO:0025514 "Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia." "ICD9CM:709.1 DOID:0040099 GARD:0012784 UMLS:C0343081 Orphanet:542643 ICD10CM:L95.0 ICD9:709.1 SCTID:238762002" CHR:9606-chr16q24.3 http://identifiers.org/hgnc/10603 UBERON:0001082 @@ -33712,10 +33690,10 @@ GO:0051952 "Any process that modulates the frequency, rate or extent of the dire CL:1000409 "A muscle cell that is part of the sinoatrial node." "FMA:67102" GO:0051494 "Any process that stops, prevents, or reduces the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures." MONDO:0003593 "A malignant adipose tissue neoplasm of the breast." "DOID:5701 UMLS:C1332632 NCIT:C5187" -MONDO:0016883 "Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "NCIT:C36501 Orphanet:261857 ICD10:Q93.5 GARD:0003730 UMLS:C0795796 MESH:C535591" -MONDO:0013700 "An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase." "SCTID:78960005 Orphanet:309031 UMLS:C0268241 ICD10:K90.3 OMIM:614338 Orphanet:309111 UMLS:C0268240 ICD9:277.89 Orphanet:309108 NCIT:C129030" +MONDO:0016883 "Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "NCIT:C36501 Orphanet:261857 GARD:0003730 UMLS:C0795796 ICD10CM:Q93.5 MESH:C535591" +MONDO:0013700 "An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase." "SCTID:78960005 Orphanet:309031 UMLS:C0268241 OMIM:614338 Orphanet:309111 UMLS:C0268240 ICD9:277.89 Orphanet:309108 NCIT:C129030 ICD10CM:K90.3" ENVO:01000887 "An area of a planet's surface which is primarily covered by sedges or forbs, possibly interpersed with grasses or grass-like plants. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction." -MONDO:0020493 "Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease." "ICD10:G47.3 Orphanet:99803 OMIM:209880 SCTID:719972004" +MONDO:0020493 "Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease." "Orphanet:99803 OMIM:209880 SCTID:719972004 ICD10CM:G47.3" GO:0042359 "The chemical reactions and pathways involving vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3)." GO:0005753 "A proton-transporting ATP synthase complex found in the mitochondrial membrane." UBERON:0008115 @@ -33726,14 +33704,14 @@ MONDO:0006223 "An extranodal diffuse large B-cell lymphoma that arises from the MONDO:0010331 "OMIM:300464" GO:0005246 "Modulates the activity of a calcium channel." UBERON:0016402 -MONDO:0012902 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1." "DOID:0110556 ICD10:H90.3 OMIM:612431" +MONDO:0012902 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1." "DOID:0110556 OMIM:612431" FOODON:00001180 "Food product that is 1) ready or nearly ready for consumption; 2) usually a composite of several foods or ingredients that often belong to distinct product types; 3) usually formulated, mixed and partially or fully cooked."@en CL:0000160 "A cell of the epithelial lining that produce and secrete mucins." "http://en.wikipedia.org/wiki/Goblet_cell FMA:13148 BTO:0001540" http://identifiers.org/hgnc/2810 GO:0035249 "The vesicular release of glutamate from a presynapse, across a chemical synapse, the subsequent activation of glutamate receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse." -MONDO:0015536 "Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease." "SCTID:765221009 ICD10:D76.3 UMLS:CN199692 Orphanet:158008" -MONDO:0018330 "Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present." "Orphanet:391723 UMLS:C1706832 NCIT:C43558 ICD10:C18.1 ONCOTREE:MAAP" -MONDO:0017773 "A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood." "MESH:D052456 UMLS:C0473527 Orphanet:31153 SCTID:190785000 NCIT:C84774 ICD10:E78.6 MedDRA:10065156" +MONDO:0015536 "Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease." "SCTID:765221009 ICD10CM:D76.3 UMLS:CN199692 Orphanet:158008" +MONDO:0018330 "Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present." "ICD10CM:C18.1 Orphanet:391723 UMLS:C1706832 NCIT:C43558 ONCOTREE:MAAP" +MONDO:0017773 "A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood." "MESH:D052456 UMLS:C0473527 Orphanet:31153 ICD10CM:E78.6 SCTID:190785000 NCIT:C84774 MedDRA:10065156" MONDO:0020180 "UMLS:CN207040 Orphanet:98590" MONDO:0003054 "A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection." "NCIT:C4055 UMLS:C0281784 SCTID:724171006 MESH:D008579 DOID:4587" MONDO:0045001 "A disease or disorder that involves the cardiac ventricle." "SCTID:415991003 UMLS:C1562298" @@ -33741,27 +33719,27 @@ CHEBI:46209 "An amino aldehyde that is L-tyrosine in which the carboxy group has MONDO:0010931 "Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations." "NCIT:C131076 SCTID:237895001 UMLS:C2748783 OMIM:600785 Orphanet:93160" MONDO:0004209 "A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres." "DOID:7398 UMLS:C0751675 NCIT:C4970" MONDO:0002059 -MONDO:0008760 "Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence." "ICD10:E71.1 NCIT:C98841 GARD:0000872 OMIM:203750 DOID:14723 Orphanet:134 MESH:C535434" +MONDO:0008760 "Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence." "OMIM:203750 ICD10CM:E71.1 MESH:C535434 Orphanet:134 NCIT:C98841 DOID:14723 GARD:0000872" http://identifiers.org/hgnc/3176 http://identifiers.org/hgnc/29043 MONDO:0005914 "Virus diseases caused by the picornaviridae." "EFO:0007438 UMLS:C0031887 MESH:D010850" -MONDO:0011968 "Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare." "ICD10:G71.0 Orphanet:62 SCTID:715340002 OMIM:608099 NCIT:C142081 GARD:0000438 DOID:0110278" +MONDO:0011968 "Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare." "Orphanet:62 SCTID:715340002 OMIM:608099 NCIT:C142081 GARD:0000438 ICD10CM:G71.0 DOID:0110278" MONDO:0016735 "A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present." "ONCOTREE:PGNT Orphanet:251962 NCIT:C92554 ICDO:9509/1 UMLS:C2985174" MONDO:0015541 "Genetic hemophagocytic lymphohistiocytosis." "MedDRA:10070904 Orphanet:540 UMLS:C0272199 SCTID:398250003 ICD9:238.79 OMIMPS:267700" MONDO:0012993 "MESH:C567194 Orphanet:241 UMLS:C2675183 OMIM:612715" MONDO:0010596 "OMIM:305800 Orphanet:54370 UMLS:C1844501 MESH:C564423" GO:0009060 "The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor." -MONDO:0019025 "A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003" "NCIT:C7136 DOID:4659 SCTID:63175003 Orphanet:66662 UMLS:C0272202 EFO:1000932 ICDO:9740/1 ICD10:C96.2" +MONDO:0019025 "A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003" "NCIT:C7136 DOID:4659 SCTID:63175003 Orphanet:66662 ICD10CM:C96.2 UMLS:C0272202 EFO:1000932 ICDO:9740/1" HP:0011297 "A morphological abnormality of a digit, i.e., of a finger or toe." "UMLS:C3550704" ECTO:9001655 "An exposure to cofactor." MONDO:0000477 "A dystonia that is localized to a specific part of the body." "SCTID:445006008 UMLS:C0743332 DOID:0050836" MONDO:0007122 "Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease." "ICD9:379.41 OMIM:106240 MESH:D015875 SCTID:13045009 HP:0009916" UBERON:0009577 -MONDO:0009262 "GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." "DOID:0080489 ICD10:E75.1 Orphanet:354 SCTID:238027003 GARD:0002431 Orphanet:79257 OMIM:230650" +MONDO:0009262 "GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." "DOID:0080489 Orphanet:354 SCTID:238027003 GARD:0002431 Orphanet:79257 ICD10CM:E75.1 OMIM:230650" MONDO:0001958 MONDO:0043373 "Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning." "UMLS:C4275242 SCTID:715239002 Orphanet:90059 MESH:D003639 GARD:0012927" MONDO:0044663 "Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis." "Orphanet:498359 GARD:0012991" -MONDO:0002158 "A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma." "SCTID:126916003 UMLS:C0015558 SCTID:363444001 MedDRA:10025915 UMLS:CN200469 ICD10:C57.0 UMLS:C0153579 ICD9:183.2 DOID:1964 GARD:0009162 Orphanet:180242 NCIT:C7480 NCIT:C3032 UMLS:C0238122" +MONDO:0002158 "A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma." "SCTID:126916003 UMLS:C0015558 SCTID:363444001 MedDRA:10025915 UMLS:CN200469 UMLS:C0153579 ICD9:183.2 DOID:1964 GARD:0009162 Orphanet:180242 NCIT:C7480 NCIT:C3032 UMLS:C0238122" MONDO:0005653 MONDO:0011531 "UMLS:C1854469 MESH:C548081 DOID:0060580 Orphanet:648 OMIM:605275 GARD:0010698" MONDO:0004124 "A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism." "DOID:7152 UMLS:C1335521 NCIT:C5524" @@ -33770,11 +33748,11 @@ MONDO:0020181 "UMLS:CN207041 Orphanet:98591" http://identifiers.org/hgnc/29040 MONDO:0013103 "An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene." "Orphanet:307 Orphanet:36387 OMIM:613060 DOID:0111292" HP:0031690 "An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system." -MONDO:0100030 "An epilepsy syndrome that has an onset during the adolescent or adult stage of life." "http://orcid.org/0000-0001-8486-0558" +MONDO:0100030 "An epilepsy syndrome that has an onset during the adolescent or adult stage of life." GO:0045818 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glycogen." -MONDO:0018031 "Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin." "GARD:0010986 SCTID:277796003 UMLS:C0376407 Orphanet:33111 NCIT:C35464 ICD10:C84.0" -MONDO:0012083 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene." "DOID:0110557 MESH:C563890 ICD10:H90.3 Orphanet:90635 OMIM:608641 UMLS:C1837640" -MONDO:0021001 "Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" "ICD10:E83.1 NCIT:C84764 ICD9:275.01 UMLS:CN242134 OMIM:235200 Orphanet:139498 DOID:0111029 EFO:0006513 SCTID:35400008 GARD:0010417" +MONDO:0018031 "Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin." "GARD:0010986 SCTID:277796003 ICD10CM:C84.0 UMLS:C0376407 Orphanet:33111 NCIT:C35464" +MONDO:0012083 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene." "DOID:0110557 MESH:C563890 Orphanet:90635 OMIM:608641 UMLS:C1837640" +MONDO:0021001 "Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" "NCIT:C84764 ICD9:275.01 UMLS:CN242134 OMIM:235200 ICD10CM:E83.1 Orphanet:139498 DOID:0111029 EFO:0006513 SCTID:35400008 GARD:0010417" MONDO:0000313 "Lower than normal levels of phosphates in the circulating blood." "DOID:0050336 NCIT:C37977 SCTID:4996001 HP:0002148 UMLS:C0085682 MESH:D017674" MONDO:0021231 "A neoplasm (disease) that involves the retina." "NCIT:C4800 EFO:1000509" MONDO:0002620 "A non-disseminated osteosarcoma." "NCIT:C7780 UMLS:C0278511 DOID:3356" @@ -33785,23 +33763,23 @@ NCBITaxon:2585030 "GC_ID:1" UBERON:0016400 UBERON:0009578 MONDO:0006121 "A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications." "UMLS:C1332833 EFO:1000148 NCIT:C6488" -MONDO:0012172 "Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." "DOID:0111277 ICD10:G71.3 OMIM:609015 SCTID:237999008 NCIT:C98991 GARD:0003684 Orphanet:746 ICD9:277.85 MESH:C566945" +MONDO:0012172 "Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." "DOID:0111277 OMIM:609015 SCTID:237999008 NCIT:C98991 GARD:0003684 Orphanet:746 ICD9:277.85 MESH:C566945 ICD10CM:G71.3" MONDO:0001959 "UMLS:C0155520 ICD9:386.56 SCTID:194377001 DOID:14413" MONDO:0004234 "An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged." "ICDO:9831/3 SCTID:722955006 UMLS:C1512709 DOID:7465 Orphanet:512017 NCIT:C39591" -MONDO:0020135 "Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern." "OMIMPS:607596 MESH:C580383 ICD10:Q04.3 DOID:0060264 Orphanet:98523 GARD:0010977 UMLS:CN924922 SCTID:45163000" +MONDO:0020135 "Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern." "ICD10CM:Q04.3 OMIMPS:607596 MESH:C580383 DOID:0060264 Orphanet:98523 GARD:0010977 UMLS:CN924922 SCTID:45163000" MONDO:0015311 "This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions." "UMLS:CN199278 GARD:0010303 Orphanet:137911" MONDO:0011796 "OMIM:607221 UMLS:C1846609 MESH:C564605" -MONDO:0009996 "Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies." "Orphanet:3098 ICD10:Q87.1 OMIM:268250 UMLS:C1849382 MESH:C537611 GARD:0004705" +MONDO:0009996 "Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies." "Orphanet:3098 OMIM:268250 UMLS:C1849382 MESH:C537611 GARD:0004705 ICD10CM:Q87.1" MONDO:0020182 "UMLS:CN207042 Orphanet:98592" GO:0005984 "The chemical reactions and pathways involving any disaccharide, sugars composed of two monosaccharide units." -MONDO:0007074 "Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation." "MESH:D000387 HP:0031009 OMIM:103400 UMLS:C0001860 ICD10:L94.6 SCTID:38528001 NCIT:C84544 ICD9:136.0 DOID:11329 GARD:0009512" +MONDO:0007074 "Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation." "MESH:D000387 HP:0031009 OMIM:103400 UMLS:C0001860 SCTID:38528001 NCIT:C84544 ICD10CM:L94.6 ICD9:136.0 DOID:11329 GARD:0009512" CL:0002535 "An epithelial cell of the cervix." UBERON:0008114 CHEBI:39144 "A molecular entity able to provide a pair of electrons and thus capable of forming a covalent bond with an electron-pair acceptor (Lewis acid), thereby producing a Lewis adduct." -MONDO:0010631 "Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." "Wikipedia:Incongenita_pigmenti OMIM:308300 DOID:12305 EFO:1000672 ICD10:Q82.3 SCTID:367520004 NCIT:C84787 UMLS:C0021171 GARD:0006778 Orphanet:464 MESH:D007184" -MONDO:0014292 "Orphanet:363540 ICD10:E75.2 OMIM:615651 NCIT:C171603 UMLS:C3810242 SCTID:768663003" +MONDO:0010631 "Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." "Wikipedia:Incongenita_pigmenti OMIM:308300 DOID:12305 EFO:1000672 SCTID:367520004 NCIT:C84787 UMLS:C0021171 GARD:0006778 Orphanet:464 MESH:D007184" +MONDO:0014292 "Orphanet:363540 ICD10CM:E75.2 OMIM:615651 NCIT:C171603 UMLS:C3810242 SCTID:768663003" ENVO:01000883 "An area of a planet's surface which is primarily covered by cultivated or anthropically maintained vegetation planted for recreation, erosion control, or aesthetic purposes interspersed by constructed or manufactured objects and materials. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction." -MONDO:0010645 "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure." "DOID:1056 MedDRA:10051707 Orphanet:534 NCIT:C84940 SCTID:79385002 GARD:0003295 ICD10:E72.0 MESH:D009800 ICD10:E72.03 ICD9:270.8 OMIM:309000 UMLS:C0028860" +MONDO:0010645 "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure." "DOID:1056 MedDRA:10051707 Orphanet:534 NCIT:C84940 SCTID:79385002 GARD:0003295 MESH:D009800 ICD9:270.8 ICD10CM:E72.0 OMIM:309000 UMLS:C0028860" http://identifiers.org/hgnc/3178 MONDO:0012995 "UMLS:C2675180 MESH:C567193 OMIM:612717" MONDO:0013094 "Orphanet:182067 OMIM:613030" @@ -33811,12 +33789,12 @@ GO:0031946 "Any process that modulates the frequency, rate or extent of the chem MONDO:0005168 "A neoplasm arising from immature B and T cells" "EFO:0002425" GO:0060301 "Any process that increases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells." MONDO:0020125 "An instance of neuromuscular junction disease that is acquired during the lifetime of the individual." "Orphanet:98494 UMLS:CN207015" -MONDO:0010709 "Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter." "OMIM:311510 UMLS:C0796195 GARD:0003203 SCTID:716107009 ICD10:G20 DOID:0111781 MESH:C537179 Orphanet:2379" +MONDO:0010709 "Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter." "OMIM:311510 UMLS:C0796195 GARD:0003203 SCTID:716107009 DOID:0111781 ICD10CM:G20 MESH:C537179 Orphanet:2379" MONDO:0017975 "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism." "MESH:D058533 Orphanet:325546" MONDO:0003899 "A myxoid chondrosarcoma occurring in adults." "UMLS:C1332209 DOID:6495 NCIT:C27378" MONDO:0033369 "UMLS:CN244549 OMIM:617929 DOID:0080432" MONDO:0023528 "A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma." "NCIT:C125711 UMLS:C4086533 GARD:0010827" -MONDO:0009498 "Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities." "GARD:0003124 Orphanet:2347 UMLS:C1855605 OMIM:245190 ICD10:Q77.8 MESH:C537208" +MONDO:0009498 "Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities." "GARD:0003124 Orphanet:2347 UMLS:C1855605 OMIM:245190 MESH:C537208 ICD10CM:Q77.8" http://identifiers.org/hgnc/32434 http://identifiers.org/hgnc/1618 CHEBI:145795 "An organic anion that is the conjugate base of digoxin resulting from the deprotonation of furanone moiety; major species at pH 7.3." @@ -33833,22 +33811,22 @@ MONDO:0010335 "DOID:0111007 GARD:0010654 OMIM:300476 MESH:C564507" MONDO:0003923 "A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma." "UMLS:C1333476 NCIT:C6836 DOID:6559" MONDO:0033368 "DOID:0080291 UMLS:CN870853 OMIM:617904" MONDO:0006266 "A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course." "MESH:D007984 DOID:2696 ICDO:8650/1 UMLS:C0023601 EFO:1000321 NCIT:C3188" -MONDO:0001957 "SCTID:230594005 UMLS:C0393851 ICD9:357.82 ICD10:G62.81 DOID:14402" +MONDO:0001957 "SCTID:230594005 UMLS:C0393851 ICD10CM:G62.81 ICD9:357.82 DOID:14402" GO:1901342 "Any process that modulates the frequency, rate or extent of vasculature development." MONDO:0006218 "A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity." "UMLS:C1708174 NCIT:C43606 EFO:1000265" UBERON:0013069 -MONDO:0004848 "Inflammation of the mouth mucosa associated with the presence of ulcers." "ICD10:K12.1 DOID:9673 ICD9:528.00 SCTID:450005 UMLS:C0038367 NCIT:C35039" +MONDO:0004848 "Inflammation of the mouth mucosa associated with the presence of ulcers." "DOID:9673 ICD9:528.00 SCTID:450005 UMLS:C0038367 NCIT:C35039" MONDO:0011798 "Orphanet:157855 OMIM:607236 UMLS:C1846582 MESH:C564603" MONDO:0700000 "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene." GO:0060454 "Any process that increases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion." HP:0002652 "A general term describing features characterized by abnormal development of bones and connective tissues." "MSH:D010009 SNOMEDCT_US:105985007 UMLS:C4280567 UMLS:C0029422 SNOMEDCT_US:240190009" -MONDO:0017892 "Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life." "Orphanet:319332 SCTID:764812008 ICD10:Q74.3 UMLS:CN203942" +MONDO:0017892 "Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life." "ICD10CM:Q74.3 Orphanet:319332 SCTID:764812008 UMLS:CN203942" GO:0042571 "An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component." PO:0009011 "A plant anatomical entity (PO:0025131) that is, or was, part of a plant, or was derived from a part of a plant." "PO_GIT:57" MONDO:0011817 "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." "UMLS:C1846418 OMIM:607339" -MONDO:0016692 "An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive." "NCIT:C40315 ICD10:C71.9 UMLS:C1519086 Orphanet:251615 DOID:4845 ONCOTREE:PMA ICDO:9425/3" +MONDO:0016692 "An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive." "ICD10CM:C71.9 NCIT:C40315 UMLS:C1519086 Orphanet:251615 DOID:4845 ONCOTREE:PMA ICDO:9425/3" MONDO:0013096 "Orphanet:182067 OMIM:613032" -MONDO:0012637 "COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism." "OMIM:611209 MESH:C535756 GARD:0010226 Orphanet:263508 ICD10:E77.8 DOID:0070259 SCTID:718750004" +MONDO:0012637 "COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism." "OMIM:611209 MESH:C535756 GARD:0010226 Orphanet:263508 ICD10CM:E77.8 DOID:0070259 SCTID:718750004" GO:1905214 "Any process that modulates the frequency, rate or extent of RNA binding." MONDO:0003331 "A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer." "NCIT:C7286 UMLS:C1302569 DOID:5207" GO:0090139 "Any process in which mitochondrial DNA and associated proteins are formed into a compact, orderly structure." @@ -33857,7 +33835,7 @@ MONDO:0013930 "UMLS:C3553936 DOID:0080479 OMIM:614862 MESH:C563301 NCIT:C155754 PATO:0001874 "A shape quality inhering in a bearer by virtue of the bearer's being cylindrical, in which the height is less than the diameter." MONDO:0012732 "OMIM:611808 UMLS:C2678494 MESH:C567519" MONDO:0013097 "Orphanet:182067 UMLS:C2751637 OMIM:613033" -MONDO:0019101 "Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." "ICD10:D18.0 Orphanet:71213" +MONDO:0019101 "Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." "ICD10CM:D18.0 Orphanet:71213" MONDO:0012998 "OMIM:612731 MESH:C567176 UMLS:C2674798" NBO:0000612 "\"A social behavior related to the activity of conveying information.\" [wikipedia:Communication]" MONDO:0100058 "Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids." "OMIM:618850" @@ -33869,33 +33847,33 @@ MONDO:0024322 "A disease that has its basis in the disruption of glycosylation." MONDO:0004530 "A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent." "UMLS:C1333369 NCIT:C36096 DOID:8307" HP:0000077 "An abnormality of the kidney." "UMLS:C0266292 UMLS:C0022658 SNOMEDCT_US:44513007 MSH:D007674 SNOMEDCT_US:90708001" GO:0050906 "The series of events involved in sensory perception in which a sensory stimulus is received and converted into a molecular signal." -MONDO:0012496 "A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." "Orphanet:96169 MESH:C566476 OMIM:610443 DOID:0050880 UMLS:C1864871 UMLS:CN776874 DOID:0070076 GARD:0010727 ICD10:Q93.5 SCTID:717338006" -MONDO:0012290 "CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis." "OMIM:609528 MESH:C537943 DOID:0060337 GARD:0009940 ICD10:Q82.8 SCTID:722385008 Orphanet:66631 UMLS:C1836033" +MONDO:0012496 "A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior." "Orphanet:96169 MESH:C566476 OMIM:610443 DOID:0050880 UMLS:C1864871 UMLS:CN776874 DOID:0070076 GARD:0010727 ICD10CM:Q93.5 SCTID:717338006" +MONDO:0012290 "CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis." "OMIM:609528 MESH:C537943 DOID:0060337 GARD:0009940 ICD10CM:Q82.8 SCTID:722385008 Orphanet:66631 UMLS:C1836033" MONDO:0002536 "A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin." "NCIT:C4614 SCTID:255184001 UMLS:C0347390 DOID:3178" -MONDO:0008965 "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)." "ICD10:Q89.8 GARD:0000029 MESH:D058747 ICD9:759.89 Orphanet:138 NCIT:C75100 ICD10:Q87.8 MedDRA:10064063 SCTID:47535005 UMLS:C0265354 OMIM:214800 DOID:0050834" +MONDO:0008965 "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)." "ICD10CM:Q87.8 GARD:0000029 MESH:D058747 ICD9:759.89 Orphanet:138 NCIT:C75100 MedDRA:10064063 SCTID:47535005 UMLS:C0265354 OMIM:214800 DOID:0050834" MONDO:0015116 "OBSOLETE. Rare biliary tract disease." "UMLS:CN197473 Orphanet:101941" -MONDO:0002053 "HP:0001325 ICD10:E15 SCTID:267384006 ICD9:251.0 UMLS:C0020617 DOID:1607" +MONDO:0002053 "HP:0001325 SCTID:267384006 ICD9:251.0 UMLS:C0020617 DOID:1607" UBERON:0005614 -MONDO:0009452 "A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." "DOID:0060356 OMIM:242840 Orphanet:1493 SCTID:719824001 MESH:C535566 NCIT:C138174 GARD:0000448 UMLS:C1855772 ICD10:Q87.8" +MONDO:0009452 "A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." "DOID:0060356 OMIM:242840 Orphanet:1493 ICD10CM:Q87.8 SCTID:719824001 MESH:C535566 NCIT:C138174 GARD:0000448 UMLS:C1855772" GO:0060125 "Any process that decreases or stops the frequency, rate or extent of the regulated release of growth hormone from a cell." -MONDO:0019878 "3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations." "Orphanet:96095 UMLS:CN206814 ICD10:Q92.3" +MONDO:0019878 "3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations." "Orphanet:96095 UMLS:CN206814" MONDO:0033365 "OMIM:617665 UMLS:CN477042 DOID:0080282" HP:0002683 "Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone." "UMLS:C4280561 UMLS:C4025691" http://identifiers.org/hgnc/6776 MONDO:0008140 "MESH:C563488 UMLS:C1833791 OMIM:165670" -MONDO:0016271 "A adenoid cystic carcinoma that involves the body of uterus." "ICD10:C54.1 Orphanet:213741 ICD10:C54.2 ICD10:C54.8 ICD10:C54.0 ICD10:C54.3" +MONDO:0016271 "A adenoid cystic carcinoma that involves the body of uterus." "ICD10CM:C54.1 ICD10CM:C54.2 Orphanet:213741 ICD10CM:C54.3 ICD10CM:C54.0 ICD10CM:C54.8" GO:0042489 "Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx." MONDO:0013021 "An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis." "NCIT:C119056 GARD:0010516 Orphanet:210115 MESH:C557815 UMLS:C2748507 OMIM:612852" MONDO:0700026 "Chromosomal disorder in which chromosome 22 is affected." -MONDO:0019155 "A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person." "Orphanet:755 MedDRA:10024406 OMIM:238320 ICD10:Q56.1 GARD:0003244" +MONDO:0019155 "A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person." "Orphanet:755 MedDRA:10024406 OMIM:238320 ICD10CM:Q56.1 GARD:0003244" MONDO:0030606 "OMIM:619720" HP:0000998 "Hypertrichosis is increased hair growth that is abnormal in quantity or location." "SNOMEDCT_US:271607001 MSH:D006983 UMLS:C0020555 SNOMEDCT_US:29966009" UBERON:0004416 CHR:9606-chr5q3 http://identifiers.org/hgnc/17057 -MONDO:0014470 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." "OMIM:616044 UMLS:C3892048 DOID:0110586 ICD10:H90.3" -MONDO:0004230 "A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis." "UMLS:C0206675 MESH:D018254 NCIT:C3762 DOID:746 ICDO:9050/0 ICDO:9052/0 ICD10:D19.9 ICDO:9054/0" -MONDO:0015723 "Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities." "Orphanet:1699 UMLS:C0795845 GARD:0005305 ICD10:Q92.3 MESH:C538299" +MONDO:0014470 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." "OMIM:616044 UMLS:C3892048 DOID:0110586" +MONDO:0004230 "A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis." "UMLS:C0206675 MESH:D018254 NCIT:C3762 DOID:746 ICDO:9050/0 ICDO:9052/0 ICDO:9054/0" +MONDO:0015723 "Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities." "Orphanet:1699 UMLS:C0795845 GARD:0005305 MESH:C538299" http://identifiers.org/hgnc/26551 PATO:0001593 "A curvature which is relatively low." UBERON:0007175 @@ -33912,7 +33890,7 @@ CHR:9606-chr5q2 UBERON:0004417 UBERON:0006810 MONDO:0003930 "Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: \"flat tumor\". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)" "DOID:6571 UMLS:C1336089 NCIT:C6188" -MONDO:0008271 "Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962." "MESH:C566784 GARD:0002256 SCTID:723446006 Orphanet:93337 UMLS:C1868113 OMIM:174600 ICD10:Q69.0" +MONDO:0008271 "Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962." "MESH:C566784 ICD10CM:Q69.0 GARD:0002256 SCTID:723446006 Orphanet:93337 UMLS:C1868113 OMIM:174600" http://identifiers.org/hgnc/7974 UBERON:0015474 UBERON:0007174 @@ -33920,22 +33898,22 @@ UBERON:0005616 http://identifiers.org/hgnc/6774 MONDO:0033367 "DOID:0080285 UMLS:CN757795 OMIM:617830" GO:0051785 "Any process that activates or increases the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information." -MONDO:0013391 "A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy." "Orphanet:163684 GARD:0012471 UMLS:C3150990 ICD10:E75.2 OMIM:613724" +MONDO:0013391 "A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy." "Orphanet:163684 ICD10CM:E75.2 GARD:0012471 UMLS:C3150990 OMIM:613724" MONDO:0060733 "OMIM:618022 UMLS:CN248526" -MONDO:0011795 "Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth." "GARD:0000709 Orphanet:1094 ICD10:Q87.8 SCTID:720494009 OMIM:607214" +MONDO:0011795 "Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth." "GARD:0000709 Orphanet:1094 SCTID:720494009 OMIM:607214 ICD10CM:Q87.8" GO:0099094 "Enables the transmembrane transfer of an inorganic cation by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts." UBERON:0026246 GO:0090316 "Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells." -MONDO:0006567 "Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus." "ICD9:773.4 EFO:1000721 SCTID:359007 NCIT:C101270 UMLS:C0270204 ICD10:P57.0 DOID:12043" +MONDO:0006567 "Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus." "ICD9:773.4 EFO:1000721 SCTID:359007 NCIT:C101270 UMLS:C0270204 ICD10CM:P57.0 DOID:12043" CL:0001026 "A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative." GO:0045637 "Any process that modulates the frequency, rate or extent of myeloid cell differentiation." UBERON:0010570 -MONDO:0017582 "A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly." "SCTID:254955001 ICD10:C75.1 UMLS:C0346300 HP:0011763 NCIT:C4536 DOID:4916 ONCOTREE:PTCA ICDO:8272/3 Orphanet:300385" +MONDO:0017582 "A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly." "SCTID:254955001 ICD10CM:C75.1 UMLS:C0346300 HP:0011763 NCIT:C4536 DOID:4916 ONCOTREE:PTCA ICDO:8272/3 Orphanet:300385" UBERON:0005617 CHEBI:64047 "Any substance which is added to food to preserve or enhance its flavour and/or appearance." CL:0002274 "A cell type that secretes histamine." ENVO:01001814 "An object which is formed as a result of one or more biological processes and is composed primarily of organic material." -MONDO:0018147 "Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease." "UMLS:CN204545 ICD10:H35.5 Orphanet:353351" +MONDO:0018147 "Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease." "UMLS:CN204545 ICD10CM:H35.5 Orphanet:353351" CL:0011019 "A mesothelial cell that is part of the epicardium." MONDO:0033366 "DOID:0080284 UMLS:CN633295 OMIM:617771" http://identifiers.org/hgnc/6773 @@ -33944,10 +33922,10 @@ MONDO:0060732 "OMIM:618021" NCBITaxon:2169971 "GC_ID:1" http://identifiers.org/hgnc/3182 MONDO:0002996 "A meningioma that affects the cavernous sinus." "NCIT:C5268 UMLS:C1332865 DOID:4435" -MONDO:0008485 "Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities." "DOID:0111556 OMIM:184500 ICD10:L72.2 GARD:0005003 Orphanet:841 SCTID:109433009 UMLS:C0259771 UMLS:C3671377" +MONDO:0008485 "Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities." "DOID:0111556 OMIM:184500 GARD:0005003 Orphanet:841 SCTID:109433009 UMLS:C0259771 UMLS:C3671377" MONDO:0003298 "A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "DOID:5142 NCIT:C40326 UMLS:C1520087" http://identifiers.org/hgnc/1884 -MONDO:0015742 "Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles." "GARD:0010285 UMLS:C0023529 SCTID:230769007 NCIT:C99013 ICD9:779.7 MESH:D007969 Orphanet:171676 DOID:13088 ICD9:742.8 MedDRA:10052594 ICD10:P91.2 EFO:1001101" +MONDO:0015742 "Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles." "GARD:0010285 UMLS:C0023529 SCTID:230769007 NCIT:C99013 ICD9:779.7 MESH:D007969 Orphanet:171676 DOID:13088 ICD9:742.8 MedDRA:10052594 EFO:1001101" MONDO:0000310 "A disease caused by infection with Alkhumra hemorrhagic fever virus." "DOID:0050308" UBERON:0009570 UBERON:0007173 @@ -33982,7 +33960,7 @@ HP:0000972 "Abnormal thickening of the skin localized to the palm of the hand an MONDO:0008144 FOODON:03420293 "The hard, central part of an apple, pear, etc., that contains the seeds (Source: Webster's)"@en http://identifiers.org/hgnc/25358 -MONDO:0023297 "Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy." "SCTID:37042000 ICD9:696.1 GARD:0010569 UMLS:C0343052 ICD10:L40.4" +MONDO:0023297 "Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy." "SCTID:37042000 ICD9:696.1 GARD:0010569 UMLS:C0343052 ICD10CM:L40.4" GO:0015850 "The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom." GO:0051649 "Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation." MONDO:0015797 "UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population." "DOID:0060240 MESH:C563466 OMIM:614640 GARD:0010947 OMIM:614621 OMIM:600630 Orphanet:178338 SCTID:698253007 ICD9:702.8 OMIMPS:600630" @@ -34001,9 +33979,9 @@ NCBITaxon:652611 "GC_ID:11" MONDO:0006951 "An occlusion of the retinal vein." "UMLS:C0035328 MESH:D012170 SCTID:46085004 DOID:1727 EFO:1001157 MedDRA:10038907 NCIT:C34981" MONDO:0030869 "OMIM:619145" UBERON:0002016 -MONDO:0009575 "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." "GARD:0009210 ICD10:Q21.0 Orphanet:49827 GARD:9210 OMIM:249270 DOID:0090117 SCTID:237617006 MESH:C536510" +MONDO:0009575 "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." "GARD:0009210 Orphanet:49827 GARD:9210 OMIM:249270 DOID:0090117 SCTID:237617006 MESH:C536510" UBERON:0004679 -MONDO:0019890 "Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported." "Orphanet:96112 SCTID:764997000 ICD10:Q92.3" +MONDO:0019890 "Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported." "Orphanet:96112 SCTID:764997000" MONDO:0001990 "A very rare malignant peripheral nerve sheath tumor that arises from the heart." "UMLS:C1334569 NCIT:C5367 DOID:14534" MONDO:0013506 "A schizophrenia that has material basis in a mutation on chromosome 7q36.3." "DOID:0070092 OMIM:613959 UMLS:C3151408" http://identifiers.org/hgnc/6770 @@ -34016,18 +33994,18 @@ MONDO:0011793 "OMIM:607202" MONDO:0021094 "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral." "SCTID:234532001 UMLS:C0021051 ICD9:279.3 NCIT:C3131 OMIMPS:300755" MONDO:0001781 "A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures." "NCIT:C27250 UMLS:C1336902 DOID:1371" MONDO:0002918 "A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." "EFO:1000180 UMLS:C0431121 ONCOTREE:CCM DOID:4210 NCIT:C4722 ICDO:9538/1 MESH:D008579" -MONDO:0005813 "A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)" "SCTID:715664005 ICDO:9757/1 NCIT:C9282 DOID:7848 EFO:0007329 MESH:D054739 ICDO:9757/3 ONCOTREE:IDCS ICD10:C96.4" +MONDO:0005813 "A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)" "SCTID:715664005 ICDO:9757/1 NCIT:C9282 DOID:7848 EFO:0007329 MESH:D054739 ICDO:9757/3 ONCOTREE:IDCS" UBERON:0006813 UBERON:0010574 MONDO:0030866 "OMIM:619121" -MONDO:0014733 "SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions)." "SCTID:765047006 OMIM:616684 Orphanet:391351 DOID:0110187 UMLS:C4225246 ICD10:G60.0" +MONDO:0014733 "SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions)." "SCTID:765047006 OMIM:616684 Orphanet:391351 DOID:0110187 UMLS:C4225246 ICD10CM:G60.0" UBERON:0002019 MONDO:0054835 "OMIM:613135" UBERON:0004414 NCBITaxon:5970 "GC_ID:1" http://identifiers.org/hgnc/25356 -MONDO:0009242 "Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility." "GARD:0001019 ICD10:Q79.6 Orphanet:90354 MESH:C536198 SCTID:719096006 OMIMPS:229200 DOID:14775 OMIM:229200 OMIM:614170 UMLS:C0268342" -MONDO:0010485 "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus." "ICD10:Q87.0 OMIM:300915 Orphanet:431140 UMLS:C3806742" +MONDO:0009242 "Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility." "ICD10CM:Q79.6 GARD:0001019 Orphanet:90354 MESH:C536198 SCTID:719096006 OMIMPS:229200 DOID:14775 OMIM:229200 OMIM:614170 UMLS:C0268342" +MONDO:0010485 "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus." "OMIM:300915 ICD10CM:Q87.0 Orphanet:431140 UMLS:C3806742" MONDO:0019293 "A disease that involves the superficial vasculature." "MESH:D017445 DOID:9540 UMLS:C0162819 NCIT:C35254 SCTID:11263005 ICD9:709.1 MedDRA:10062171 Orphanet:79379" NCBITaxon:116926 "GC_ID:1" UBERON:0005613 @@ -34040,7 +34018,7 @@ UBERON:0003216 MONDO:0033362 "OMIM:617389 Orphanet:1934 UMLS:C4479313 DOID:0080464" MONDO:0008141 "GARD:0008184 MESH:C537142 OMIM:165680 UMLS:C1833790" GO:0031300 "The component of the organelle membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane." -MONDO:0019107 "The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia." "ICD10:D58.8 UMLS:C0272052 SCTID:37272000 DOID:0050641 UMLS:C1849387 GARD:0012916 Orphanet:71275 OMIM:268150" +MONDO:0019107 "The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia." "UMLS:C0272052 SCTID:37272000 ICD10CM:D58.8 DOID:0050641 UMLS:C1849387 GARD:0012916 Orphanet:71275 OMIM:268150" HP:0007373 "Wasting involving the motor neuron." "UMLS:C4024896" UBERON:0010575 http://identifiers.org/hgnc/25355 @@ -34048,16 +34026,16 @@ MONDO:0030867 "OMIM:619130" UBERON:0004415 UBERON:0002018 MONDO:0010594 "HP:0000119 OMIM:305690 MESH:C564424" -MONDO:0003781 "An acute or chronic inflammatory process affecting the bronchi." "NCIT:C26722 ICD9:491 ICD9:466.0 NCIT:C2911 ICD10:J42 ICD9:490 DOID:6132 ICD9:491.9 ICD10:J20.9 MESH:D001991 UMLS:C0006277 UMLS:C0008677 ICD10:J20 EFO:0009661 ICD10:J40 CSP:2596-1500 SCTID:32398004" -MONDO:0000710 "An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite." "ICD10:K50.0 DOID:0060191" +MONDO:0003781 "An acute or chronic inflammatory process affecting the bronchi." "ICD9:491 UMLS:C0008677 EFO:0009661 DOID:6132 ICD9:466.0 MESH:D001991 NCIT:C26722 ICD9:490 ICD9:491.9 SCTID:32398004 CSP:2596-1500 NCIT:C2911 UMLS:C0006277" +MONDO:0000710 "An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite." "DOID:0060191" NCBITaxon:116925 "GC_ID:1" -MONDO:0001938 "A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness." "ICD10:N90.4 NCIT:C34565 DOID:14292 ICD9:624.09 SCTID:51689003 UMLS:C0013426 ICD9:624.0" +MONDO:0001938 "A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness." "NCIT:C34565 DOID:14292 ICD9:624.09 SCTID:51689003 UMLS:C0013426 ICD9:624.0" GO:0042322 "Any process that stops, prevents or reduces the duration or quality of rapid eye movement (REM) sleep." MONDO:0000732 "A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes." "OMIMPS:609060 GARD:0012893 DOID:0060286" UBERON:0003477 UBERON:0001915 GO:0045576 "The change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors." -MONDO:0018841 "ICD10:K76.8 EFO:0009039 DOID:0050674 UMLS:CN239183 OMIMPS:607765 Orphanet:485631" +MONDO:0018841 "EFO:0009039 DOID:0050674 UMLS:CN239183 OMIMPS:607765 Orphanet:485631" http://identifiers.org/hgnc/6518 MONDO:0020037 "OBSOLETE. Rare female reproductive system neoplasm." "Orphanet:98063 UMLS:CN206962" UBERON:0005872 @@ -34075,31 +34053,31 @@ http://identifiers.org/hgnc/7715 MONDO:0017643 "Orphanet:306708 UMLS:CN227167" CHEBI:22695 "A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Bronsted base) or with the vacant orbital of some other molecular entity (Lewis base)." GO:0071214 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (non-living) stimulus." -MONDO:0009346 "OMIM:235830 Orphanet:2158 GARD:0002708 ICD10:E70.8 UMLS:C0268642 MESH:C538321" -MONDO:0008437 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene." "NCIT:C142893 UMLS:C2931355 DOID:0110791 MESH:C536864 GARD:0005041 Orphanet:100984 ICD10:G11.4 OMIM:182600" +MONDO:0009346 "ICD10CM:E70.8 Orphanet:2158 GARD:0002708 UMLS:C0268642 MESH:C538321 OMIM:235830" +MONDO:0008437 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene." "UMLS:C2931355 DOID:0110791 MESH:C536864 Orphanet:100984 ICD10CM:G11.4 NCIT:C142893 GARD:0005041 OMIM:182600" UBERON:0003476 UBERON:0011775 UBERON:0005873 CL:1000073 -MONDO:0010742 "Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC." "OMIM:313850 SCTID:281587000 ICD9:759.89 UMLS:C0559483 Orphanet:1335 ICD10:Q89.7 MESH:D058502 GARD:0007359 NCIT:C99011" +MONDO:0010742 "Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC." "OMIM:313850 SCTID:281587000 ICD9:759.89 UMLS:C0559483 Orphanet:1335 MESH:D058502 GARD:0007359 ICD10CM:Q89.7 NCIT:C99011" MONDO:0004218 "A germ cell tumor arising from brain during childhood." "DOID:7430 NCIT:C5795 UMLS:C1377598" -MONDO:0010817 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene." "OMIM:600101 DOID:0110558 MESH:C567441 ICD10:H90.3 UMLS:C2677637" +MONDO:0010817 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene." "OMIM:600101 DOID:0110558 MESH:C567441 UMLS:C2677637" MONDO:0020176 "A neoplasm (disease) that involves the sebaceous gland of eyelid." "UMLS:CN207036 Orphanet:98585" GO:1901292 "The chemical reactions and pathways resulting in the breakdown of a nucleoside phosphate." MONDO:0022323 "UMLS:C2930873 GARD:0008635 MESH:C535305" -MONDO:0020509 "Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings." "Orphanet:99857 ICD10:G95.0" -MONDO:0007011 "A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea." "DOID:13404 EFO:1001232 UMLS:C0042171 SCTID:31541009 ICD10:D86.89 SCTID:4416007 MESH:D014608" +MONDO:0020509 "Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings." "ICD10CM:G95.0 Orphanet:99857" +MONDO:0007011 "A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea." "DOID:13404 EFO:1001232 UMLS:C0042171 SCTID:31541009 SCTID:4416007 MESH:D014608" http://identifiers.org/hgnc/9279 GO:2001151 "Any process that modulates the frequency, rate or extent of renal water transport." HP:0004352 "Any deviation from the normal concentration of a purine in the blood circulation." "UMLS:C4025346" UBERON:0002012 -MONDO:0005746 "An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus." "NCIT:C128396 ICD9:127.4 ICD10:B80 EFO:0007254 UMLS:C0030100 SCTID:266162007 UMLS:C0086227 DOID:7457" +MONDO:0005746 "An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus." "NCIT:C128396 ICD9:127.4 EFO:0007254 UMLS:C0030100 SCTID:266162007 UMLS:C0086227 DOID:7457 ICD10CM:B80" UBERON:0004675 GO:0005724 "OBSOLETE. Heterochromatic regions of the chromosome found at the telomeres of a chromosome in the nucleus." -MONDO:0011252 "Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." "Orphanet:93352 GARD:0004980 SCTID:719201004 MESH:C566523 ICD10:Q77.7 UMLS:C1865185 OMIM:602557" -MONDO:0300000 "A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure." "http://orcid.org/0000-0001-9969-8610" +MONDO:0011252 "Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." "ICD10CM:Q77.7 Orphanet:93352 GARD:0004980 SCTID:719201004 MESH:C566523 UMLS:C1865185 OMIM:602557" +MONDO:0300000 "A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure." MONDO:0054836 "OMIM:618049 UMLS:CN248785" -MONDO:0009394 "Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss." "ICD10:M88.0 OMIM:239000 NCIT:C131861 GARD:0002831 ICD10:M88.8 SCTID:9723006 MESH:C537701 ICD10:M88.9 Orphanet:2801" +MONDO:0009394 "Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss." "OMIM:239000 NCIT:C131861 ICD10CM:M88.0 GARD:0002831 ICD10CM:M88.9 ICD10CM:M88.8 SCTID:9723006 MESH:C537701 Orphanet:2801" MFOMD:0000143 "The essential feature is a period of at least 2 weeks during which there is either depressed mood or the loss of interest or pleasure in nearly all activities. In children and adolescents, the mood may be irritable rather than sad.\n\nDSM-IV-TR (american Psychiatric Association)" MONDO:0017644 "Orphanet:306712 UMLS:CN227168" http://identifiers.org/hgnc/7716 @@ -34120,7 +34098,7 @@ MONDO:0030861 "OMIM:619131" CHEBI:84087 "Any metabolite (endogenous or exogenous) found in human urine samples." UBERON:0010579 MONDO:0000232 "A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy." "DOID:0050047 UMLS:C4505102" -MONDO:0009904 "Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion." "NCIT:C84730 MESH:D053579 ICD10:N15.8 UMLS:C0268450 ICD9:275.49 SCTID:707756004 Orphanet:358 OMIM:263800 DOID:0050450 MedDRA:10062906 GARD:0008547" +MONDO:0009904 "Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion." "NCIT:C84730 MESH:D053579 UMLS:C0268450 ICD9:275.49 ICD10CM:N15.8 SCTID:707756004 Orphanet:358 OMIM:263800 DOID:0050450 MedDRA:10062906 GARD:0008547" UBERON:0010312 UBERON:0002015 UBERON:0004410 @@ -34135,7 +34113,7 @@ MONDO:0003991 "A primary endometrioid adenocarcinoma of the endometrium characte UBERON:0005875 UBERON:0003478 UBERON:0003212 -MONDO:0019413 "Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." "UMLS:CN206143 UMLS:C4274732 Orphanet:85200 ICD10:Q77.8 SCTID:715654001" +MONDO:0019413 "Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." "UMLS:CN206143 UMLS:C4274732 Orphanet:85200 ICD10CM:Q77.8 SCTID:715654001" NCBITaxon:6072 "GC_ID:1" UBERON:0001916 MONDO:0030862 "OMIM:619113" @@ -34144,29 +34122,29 @@ http://identifiers.org/hgnc/9277 MONDO:0022587 "GARD:0000921" GO:0010700 "Any process that decreases the frequency, rate or extent of the regulated release of norepinephrine." http://identifiers.org/hgnc/8912 -MONDO:0009064 "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations." "Orphanet:411641 Orphanet:213 OMIM:219750 UMLS:C2931013 MESH:C535765 ICD10:E72.0" +MONDO:0009064 "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations." "Orphanet:411641 Orphanet:213 OMIM:219750 ICD10CM:E72.0 UMLS:C2931013 MESH:C535765" MONDO:0004984 "A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis." "NCIT:C53558 UMLS:C3642347 EFO:0000281" UBERON:0010314 -MONDO:0001375 "A malignant neoplasm involving the trigone of urinary bladder." "DOID:11813 SCTID:188239000 ICD9:188.0 ICD10:C67.0 UMLS:C0496826" +MONDO:0001375 "A malignant neoplasm involving the trigone of urinary bladder." "DOID:11813 SCTID:188239000 ICD9:188.0 UMLS:C0496826" UBERON:0010313 MONDO:0054838 "OMIM:618052 UMLS:CN252335" UBERON:0004411 -MONDO:0002884 "A disease involving the nail." "DOID:4123 ICD9:703.9 SCTID:17790008 ICD9:703.8 ICD10:L60.9 MESH:D009260 ICD10:L60 ICD9:703 UMLS:C0027339" +MONDO:0002884 "A disease involving the nail." "DOID:4123 ICD9:703.9 SCTID:17790008 ICD9:703.8 MESH:D009260 ICD9:703 UMLS:C0027339" MONDO:0009343 "GARD:0002696 UMLS:C1856111 MESH:C538120 MESH:C565517 OMIM:235750" MONDO:0021364 "A neoplasm (disease) that involves the oropharynx." "UMLS:C0029295 NCIT:C3291 SCTID:126809003" http://identifiers.org/hgnc/8079 http://identifiers.org/hgnc/7714 GO:0030667 "The lipid bilayer surrounding a secretory granule." GO:0015693 "The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." -MONDO:0017642 "UMLS:CN227166 Orphanet:3067 ICD10:Q87.8" +MONDO:0017642 "UMLS:CN227166 Orphanet:3067 ICD10CM:Q87.8" MONDO:0003426 "A benign neoplasm composed of glands containing epithelial clear cells." "NCIT:C4151 ICDO:8310/0 DOID:5390 UMLS:C0334315" -MONDO:0017934 "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated." "Orphanet:324540 UMLS:CN204076 ICD10:Q87.0" -MONDO:0018876 "Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''." "DOID:0050746 ICD10:C83.1 ICD9:200.40 MedDRA:10061275 SCTID:443487006 NCIT:C4337 MESH:D020522 Orphanet:52416 ICDO:9673/3 ONCOTREE:MCL EFO:1001469 GARD:0006969" -MONDO:0008716 "A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed." "Orphanet:2500 MESH:C538187 UMLS:C0406584 ICD9:259.8 ICD10:L90.8 GARD:0006543 UMLS:C0238590 SCTID:238872007 OMIM:201200" +MONDO:0017934 "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated." "Orphanet:324540 UMLS:CN204076 ICD10CM:Q87.0" +MONDO:0018876 "Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''." "DOID:0050746 ICD9:200.40 MedDRA:10061275 SCTID:443487006 NCIT:C4337 MESH:D020522 Orphanet:52416 ICDO:9673/3 ONCOTREE:MCL EFO:1001469 GARD:0006969" +MONDO:0008716 "A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed." "Orphanet:2500 MESH:C538187 UMLS:C0406584 ICD9:259.8 GARD:0006543 ICD10CM:L90.8 UMLS:C0238590 SCTID:238872007 OMIM:201200" CHR:9606-chr8q MONDO:0008334 "Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene." "DOID:0111286 OMIM:177900" CHEBI:33461 -MONDO:0019373 "Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases." "UMLS:C0281508 MESH:D058405 EFO:1000895 ICDO:8806/3 Orphanet:83469 HGNC:12796 GARD:0006265 MedDRA:10064587 ICD10:C48.2 NCIT:C8300 ONCOTREE:DSRCT MedDRA:10064581" +MONDO:0019373 "Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases." "UMLS:C0281508 MESH:D058405 EFO:1000895 ICDO:8806/3 Orphanet:83469 HGNC:12796 ICD10CM:C48.2 GARD:0006265 MedDRA:10064587 NCIT:C8300 ONCOTREE:DSRCT MedDRA:10064581" MONDO:0016442 "ICD9:215.9 Orphanet:228254 UMLS:C0473583 SCTID:239140003" GO:0098661 "The process in which an inorganic anion is transported across a membrane." UBERON:0010000 "An anatomical structure that has more than one cell as a part." @@ -34174,7 +34152,7 @@ UBERON:0003473 HsapDv:0000080 "Human developmental stage that covers the period from birth until 12 years old." MONDO:0003091 "A mucoepidermoid carcinoma that involves the zone of skin." "SCTID:254713002 NCIT:C4472 UMLS:C0346019 DOID:4683" MONDO:0024286 "A benign neoplasm arising from arteries or veins." "UMLS:C0685121 NCIT:C8537" -MONDO:8000011 "A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." "MESH:C537394 Orphanet:99811 OMIM:243180 UMLS:C1855733 ICD10:K59.8 Orphanet:2978 GARD:0003969" +MONDO:8000011 "A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." "ICD10CM:K59.8 MESH:C537394 Orphanet:99811 OMIM:243180 UMLS:C1855733 Orphanet:2978 GARD:0003969" CHEBI:35191 "A C30 terpene." http://identifiers.org/hgnc/7711 UBERON:0007172 @@ -34183,36 +34161,36 @@ UBERON:0004670 UBERON:0002275 UBERON:0001077 MONDO:0100203 "A disease caused by infection with parainfluenza virus type 1." "OMOP:4248511" -MONDO:0007906 "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." "SCTID:715439000 GARD:3126 ICD10:E88.1 OMIM:151660 GARD:0003126 DOID:0070202 Orphanet:2348" +MONDO:0007906 "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis." "GARD:3126 SCTID:715439000 OMIM:151660 ICD10CM:E88.1 GARD:0003126 DOID:0070202 Orphanet:2348" MONDO:0007023 "Infections with bacteria of the genus yersinia." "SCTID:83436008 EFO:1001245 MESH:D015009 NCIT:C128337" CHR:9606-chr8p http://identifiers.org/hgnc/30032 GO:0044107 "The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, as carried out by individual cells." -MONDO:0015665 "Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation." "SCTID:402468007 MedDRA:10055046 NCIT:C85061 GARD:0007615 UMLS:CN200092 ICD9:701.8 UMLS:C0263390 ICD10:L98.5 Orphanet:167635 MESH:D053718" -MONDO:0005791 "A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." "ICD10:B08.5 ICD9:074.0 MESH:D006557 EFO:0007306 DOID:10883 UMLS:C0019338 SCTID:274102007" +MONDO:0015665 "Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation." "ICD10CM:L98.5 SCTID:402468007 MedDRA:10055046 NCIT:C85061 GARD:0007615 UMLS:CN200092 ICD9:701.8 UMLS:C0263390 Orphanet:167635 MESH:D053718" +MONDO:0005791 "A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." "ICD9:074.0 MESH:D006557 EFO:0007306 DOID:10883 UMLS:C0019338 SCTID:274102007" UBERON:0003472 MONDO:0100128 "The simultaneous infection of a host by multiple pathogen species." "UMLS:C0275524" -MONDO:0016220 "Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported." "Orphanet:210576 ICD10:K07.6 SCTID:763215008" +MONDO:0016220 "Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported." "Orphanet:210576 SCTID:763215008" UBERON:0010316 http://identifiers.org/hgnc/8910 MONDO:0100375 "Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)" "NCIT:C36055 NCIT:C27758" -MONDO:0006012 "Inflammation of the lung parenchyma that is caused by a viral infection." "EFO:0007541 DOID:10533 ICD10:J12.9 ICD9:480 ICD9:480.9 UMLS:C0032310 ICD9:480.8 SCTID:75570004 MESH:D011024" +MONDO:0006012 "Inflammation of the lung parenchyma that is caused by a viral infection." "EFO:0007541 DOID:10533 ICD9:480 ICD9:480.9 UMLS:C0032310 ICD9:480.8 SCTID:75570004 MESH:D011024" UBERON:0001076 GO:0046483 "The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings)." CL:1000458 "A melanocyte that is part of the skin of body." "FMA:72144 CALOHA:TS-2374" GO:0002763 "Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte differentiation." MONDO:0014126 "Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene." "Orphanet:2855 OMIM:615300 UMLS:C3809105" -MONDO:0005301 "A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers." "DOID:2377 OMIM:126200 NCIT:C3243 OMIM:612596 UMLS:C0026769 OMIM:612594 ICD9:340 MESH:D009103 Orphanet:802 EFO:0003885 OMIM:612595 ICD10:G35 OMIM:614810 SCTID:24700007" -MONDO:0019396 "Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed." "Orphanet:84087 ICD9:583.89 UMLS:CN206095 SCTID:708127008 UMLS:C3872695 ICD10:N07.6" +MONDO:0005301 "A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers." "DOID:2377 OMIM:126200 NCIT:C3243 OMIM:612596 UMLS:C0026769 OMIM:612594 ICD9:340 MESH:D009103 Orphanet:802 EFO:0003885 OMIM:612595 OMIM:614810 SCTID:24700007 ICD10CM:G35" +MONDO:0019396 "Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed." "Orphanet:84087 ICD9:583.89 ICD10CM:N07.6 UMLS:CN206095 SCTID:708127008 UMLS:C3872695" http://identifiers.org/hgnc/7978 GO:0042110 "The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific." http://identifiers.org/hgnc/14558 UBERON:0007171 ENVO:01001010 "A meteor which is primarily composed of water." -MONDO:0019543 "Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures." "Orphanet:90065 UMLS:CN206370 ICD10:I60.9" -MONDO:0010482 "X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign." "ICD10:G20 Orphanet:363654 UMLS:C3806722 OMIM:300911" +MONDO:0019543 "Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures." "Orphanet:90065 UMLS:CN206370 ICD10CM:I60.9" +MONDO:0010482 "X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign." "ICD10CM:G20 Orphanet:363654 UMLS:C3806722 OMIM:300911" UBERON:0003475 -MONDO:0017836 "Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant." "UMLS:CN203813 GARD:0001722 ICD10:Q82.8 ICD9:447.8 Orphanet:315 SCTID:239062001" +MONDO:0017836 "Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant." "UMLS:CN203813 GARD:0001722 ICD9:447.8 Orphanet:315 ICD10CM:Q82.8 SCTID:239062001" CHR:9606-chr5q1 ENVO:00002203 "Chemically-enriched sediment which has increased levels of inorganic compounds." http://identifiers.org/hgnc/6512 @@ -34223,7 +34201,7 @@ http://identifiers.org/hgnc/21653 MONDO:0013671 "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." "Orphanet:254688 UMLS:C3280352 OMIM:614293 Orphanet:99927 UMLS:C0678213" CHR:9606-chrXq27.2 GO:0051194 "OBSOLETE. Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a cofactor." -MONDO:0010602 "The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." "DOID:12134 Orphanet:98878 SCTID:234440005 MESH:D006467 ICD10:D66 MedDRA:10016080 GARD:0006591 OMIM:134500 EFO:0007267 ICD9:286.0 UMLS:C0019069 UMLS:CN239112 NCIT:C27146 OMIM:306700" +MONDO:0010602 "The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." "DOID:12134 Orphanet:98878 SCTID:234440005 MESH:D006467 MedDRA:10016080 GARD:0006591 OMIM:134500 EFO:0007267 ICD9:286.0 UMLS:C0019069 UMLS:CN239112 NCIT:C27146 OMIM:306700" MONDO:0000895 "A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation." "DOID:0080186" http://identifiers.org/hgnc/7975 PO:0025527 "A collective plant organ structure development stage (PO:0025338) that begins with the onset of the plant organ development stage (PO:0025339) and ends with either gametophyte senescent stage (PO:0025343) or sporophyte senescent stage (PO:0007017) or death." "PO_GIT:517" @@ -34232,7 +34210,7 @@ MONDO:0015242 FOODON:03412702 "A young goat"@en UBERON:0001912 HP:0001000 "An abnormality of the pigmentation of the skin." "UMLS:C1260926" -MONDO:0010177 "A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage." "Orphanet:3018 ICD10:E78.8 OMIM:277175 GARD:0004635 MESH:C564750" +MONDO:0010177 "A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage." "Orphanet:3018 OMIM:277175 GARD:0004635 MESH:C564750 ICD10CM:E78.8" MONDO:0006650 "Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)" "MESH:D020759 DOID:6712 UMLS:C0221069 SCTID:2972007 MedDRA:10002703 EFO:1000810 ICD9:433.80" CL:0000440 "A cell of the intermediate pituitary that produces melanocyte stimulating hormone." "BTO:0002277" http://identifiers.org/hgnc/6511 @@ -34244,7 +34222,7 @@ UBERON:0000979 CHR:9606-chr19q13 MONDO:0003532 "A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells." "UMLS:C3812899 NCIT:C9134 DOID:5592 UMLS:C1336027" GO:2001021 "Any process that stops, prevents or reduces the frequency, rate or extent of response to DNA damage stimulus." -MONDO:0008448 "Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations." "DOID:0080091 UMLS:C1866785 MESH:C000598645 OMIM:182920 ICD10:G71.8 GARD:0008711 Orphanet:268129 SCTID:765092004" +MONDO:0008448 "Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations." "DOID:0080091 UMLS:C1866785 MESH:C000598645 OMIM:182920 GARD:0008711 Orphanet:268129 ICD10CM:G71.8 SCTID:765092004" MONDO:0003685 "A germ cell tumor that involves the retroperitoneal space." "NCIT:C6447 UMLS:C1335776 DOID:5874" MONDO:0034041 "A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia." "Orphanet:538101" MONDO:0009347 "OMIM:235900 SCTID:234577004 UMLS:C0334125 MESH:C562738" @@ -34254,19 +34232,19 @@ http://identifiers.org/hgnc/7976 NCBITaxon:5719 "GC_ID:1 PMID:20093080" http://identifiers.org/hgnc/11812 UBERON:0001955 -MONDO:0019758 "Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." "OMIM:610829 Orphanet:93926 OMIM:157170 UMLS:CN206692 ICD10:Q04.2 OMIM:609637" -MONDO:0001049 "A pericarditis characterized by inflammation, occurring after injury, located in pericardium." "ICD10:I24.1 ICD9:411.0 UMLS:C0152107 DOID:10507 SCTID:66189004" -MONDO:0004542 "A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates." "ONCOTREE:CEGCC NCIT:C40212 Orphanet:213833 ICD10:C53.0 DOID:8361 MESH:C536823 ICD10:C53.1 ICD10:C53.8 GARD:0008437" -MONDO:0001167 "A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy." "MESH:D002547 DOID:10965 SCTID:281411007 ICD10:G80.1 UMLS:C0270804 ICD9:343.0 MESH:C537945 NCIT:C34781 GARD:0009637" -MONDO:0009448 "Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait." "OMIM:242600 MESH:C536285 ICD9:270.8 Orphanet:42062 GARD:0008424 SCTID:84121007 UMLS:C0268654 ICD10:E72.0" -MONDO:0008111 "Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." "OMIM:257850 ICD9:759.89 DOID:0060291 ICD10:Q87.8 Orphanet:2710 SCTID:38215007 OMIM:164200 MedDRA:10063691 GARD:0007239 MESH:C563160" +MONDO:0019758 "Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." "OMIM:610829 Orphanet:93926 ICD10CM:Q04.2 OMIM:157170 UMLS:CN206692 OMIM:609637" +MONDO:0001049 "A pericarditis characterized by inflammation, occurring after injury, located in pericardium." "ICD9:411.0 UMLS:C0152107 ICD10CM:I24.1 DOID:10507 SCTID:66189004" +MONDO:0004542 "A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates." "ICD10CM:C53.1 ONCOTREE:CEGCC ICD10CM:C53.0 NCIT:C40212 Orphanet:213833 DOID:8361 MESH:C536823 ICD10CM:C53.8 GARD:0008437" +MONDO:0001167 "A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy." "MESH:D002547 DOID:10965 SCTID:281411007 UMLS:C0270804 ICD9:343.0 MESH:C537945 NCIT:C34781 GARD:0009637" +MONDO:0009448 "Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait." "OMIM:242600 ICD10CM:E72.0 MESH:C536285 ICD9:270.8 Orphanet:42062 GARD:0008424 SCTID:84121007 UMLS:C0268654" +MONDO:0008111 "Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." "ICD10CM:Q87.8 OMIM:257850 ICD9:759.89 DOID:0060291 Orphanet:2710 SCTID:38215007 OMIM:164200 MedDRA:10063691 GARD:0007239 MESH:C563160" MONDO:0018607 "UMLS:CN237641 UMLS:C1862062 Orphanet:440727" -MONDO:0005083 "An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp." "OMIM:177900 OMIM:604316 GARD:0010262 OMIMPS:177900 ICD10:L40 EFO:0000676 ICD9:696.5 OMIM:612950 SCTID:9014002 NCIT:C3346 MESH:D011565 UMLS:C0033860 OMIM:614070 ICD9:696.1 OMIM:607857 ICD10:L40.9 OMIM:603935 OMIM:612410 OMIM:602723 ICD9:696 OMIM:601454 DOID:8893 OMIM:612599 OMIM:605364 OMIM:610707 ICD9:696.8 OMIM:605606" +MONDO:0005083 "An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp." "OMIM:177900 OMIM:604316 GARD:0010262 OMIMPS:177900 EFO:0000676 ICD9:696.5 OMIM:612950 SCTID:9014002 NCIT:C3346 MESH:D011565 UMLS:C0033860 OMIM:614070 ICD9:696.1 OMIM:607857 OMIM:603935 OMIM:612410 OMIM:602723 ICD9:696 ICD10CM:L40 OMIM:601454 DOID:8893 OMIM:612599 OMIM:605364 OMIM:610707 ICD9:696.8 OMIM:605606" CHEBI:32600 "An acene that consists of four ortho-fused benzene rings in a rectilinear arrangement." MONDO:0011768 "Orphanet:589 MESH:C564628 UMLS:C1846838 OMIM:607085" MONDO:0000779 "OBSOLETE. A allergy involving a Malus domestica." "DOID:0060504" ECTO:0000725 "An exposure to carcinogenic agent." -MONDO:0005141 "Infections with bacteria of the genus pseudomonas." "ICD9:041.7 SCTID:63398001 MESH:D011552 EFO:0001076" +MONDO:0005141 "Infections with bacteria of the genus pseudomonas." "EFO:0001076 ICD9:041.7 SCTID:63398001 MESH:D011552" MONDO:0010303 http://identifiers.org/hgnc/11811 MONDO:0012394 "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene." "UMLS:C1832708 OMIM:610017 Orphanet:3237 MESH:C537380 GARD:0009916" @@ -34274,22 +34252,22 @@ MONDO:0005405 "Asthma that starts in childhood." "SCTID:233678006 EFO:0004591 UM UBERON:0001954 ENVO:01001311 "A surface layer which is composed primarily of solid environmental material." FOODON:03307455 "SUBSET_SIREN:F7455" -MONDO:0002752 "An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." "EFO:0006460 Orphanet:213504 DOID:3713 MedDRA:10051938 NCIT:C7700 ICD10:C56" -MONDO:0016605 "A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth." "Orphanet:247623 ICD10:E83.3 UMLS:C2673477 OMIM:241500" +MONDO:0002752 "An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma." "EFO:0006460 Orphanet:213504 DOID:3713 MedDRA:10051938 NCIT:C7700 ICD10CM:C56" +MONDO:0016605 "A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth." "Orphanet:247623 UMLS:C2673477 ICD10CM:E83.3 OMIM:241500" CHEBI:33424 MONDO:0000015 "A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response." "SCTID:363009005 UMLS:C1285186 ICD9:279.8 GARD:0009526" -MONDO:0011766 "UMLS:C2751325 MESH:C567773 ICD10:Q56.1 Orphanet:168563 OMIM:607080" +MONDO:0011766 "UMLS:C2751325 MESH:C567773 ICD10CM:Q56.1 Orphanet:168563 OMIM:607080" CHEBI:83822 "Any L-alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids." NCBITaxon:11628 "GC_ID:1" MONDO:0021153 UBERON:0002052 MONDO:0012965 "OMIM:612627 UMLS:C2675462 Orphanet:306 MESH:C567231" -MONDO:0012916 "2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." "SCTID:719651000 MESH:C567289 UMLS:C4304538 UMLS:C2675875 ICD10:Q93.5 Orphanet:261349 DOID:0060415 GARD:0013391 OMIM:612513" +MONDO:0012916 "2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism." "SCTID:719651000 MESH:C567289 UMLS:C4304538 UMLS:C2675875 Orphanet:261349 DOID:0060415 GARD:0013391 ICD10CM:Q93.5 OMIM:612513" GO:0005215 "Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells." -MONDO:0019585 "Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent." "Orphanet:90400 ICD10:L98.5" +MONDO:0019585 "Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent." "ICD10CM:L98.5 Orphanet:90400" UBERON:0001957 CHR:9606-chr8q12.1-q21.2 -MONDO:0004588 "Inability to see clearly in dim light." "NCIT:C34850 ICD10:H53.6 SCTID:65194006 ICD9:368.69 NCIT:C37997 MESH:D009755 UMLS:C0028077 DOID:8499 ICD9:368.6 ICD10:H53.60 ICD9:368.60" +MONDO:0004588 "Inability to see clearly in dim light." "NCIT:C34850 SCTID:65194006 ICD9:368.69 NCIT:C37997 MESH:D009755 UMLS:C0028077 ICD10CM:H53.6 DOID:8499 ICD9:368.6 ICD9:368.60" CL:0002140 "A sebum secreting cell of the skin that secretes sebum into the hair follicles." "BTO:0004613 FMA:70953" MONDO:0014263 "OMIM:615583 GARD:0012814 Orphanet:508488 UMLS:C3810023" http://identifiers.org/hgnc/10879 @@ -34298,7 +34276,7 @@ UBERON:0003253 MONDO:0005579 "A chronic condition characterised by recurrent generalised seizures." "DOID:1827 SCTID:19598007 OMIM:608762 OMIM:616685 OMIM:614847 OMIM:612899 OMIMPS:600669 MESH:C562694 NCIT:C3021 OMIM:609750 OMIM:613060 MESH:D004829 OMIM:604827 EFO:0005917 OMIM:606972 OMIM:607682 OMIM:611934 OMIM:600669 OMIM:607628 OMIM:611136" CL:1000042 NCIT:C52005 -MONDO:0006968 "Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)" "ICD10:M75.4 MedDRA:10049039 UMLS:C0376685 ICD9:726.2 SCTID:202849001 EFO:1001178 DOID:14276 MESH:D019534" +MONDO:0006968 "Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)" "MedDRA:10049039 UMLS:C0376685 ICD10CM:M75.4 ICD9:726.2 SCTID:202849001 EFO:1001178 DOID:14276 MESH:D019534" MONDO:0000982 GO:0008066 "Combining with glutamate and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity." CHEBI:74818 "Any organic aromatic compound having one or more hydroxy groups attached to a heteroarene ring." @@ -34306,11 +34284,11 @@ GO:0072367 "OBSOLETE. Any process that modulates the frequency, rate or extent o MONDO:0000320 "A tularemia that involves the lymph node." "UMLS:C0275974 DOID:0050382 SCTID:21857006" MONDO:0017407 "OMIM:615577 Orphanet:293978" MONDO:0000225 "A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages." "UMLS:C1282983 ICD9:082.41 SCTID:359747000 DOID:0050026 GARD:0000072" -MONDO:0007209 "Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated." "GARD:0005232 Orphanet:3344 OMIM:112350 UMLS:C1862172 ICD10:Q77.8 SCTID:715532007 MESH:C537082" -MONDO:0000153 "A congenital cardiac defect in which two heart vessels are reversed (transposed)." "MESH:D014188 ICD10:Q20.3 NCIT:C84742 ICD10:Q20.5 Orphanet:216675" +MONDO:0007209 "Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated." "GARD:0005232 Orphanet:3344 OMIM:112350 UMLS:C1862172 SCTID:715532007 ICD10CM:Q77.8 MESH:C537082" +MONDO:0000153 "A congenital cardiac defect in which two heart vessels are reversed (transposed)." "MESH:D014188 ICD10CM:Q20.3 ICD10CM:Q20.5 NCIT:C84742 Orphanet:216675" GO:0006959 "An immune response mediated through a body fluid." -MONDO:0015449 "Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects." "Orphanet:1461 ICD9:746.89 ICD10:Q24.8 MESH:D003420 SCTID:253269002" -MONDO:0008329 "Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney." "GARD:0009145 ICD10:N25.8 Orphanet:171871 DOID:0060855 OMIM:177735 UMLS:C1449842 MESH:D011546 Orphanet:756 NCIT:C126810" +MONDO:0015449 "Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects." "Orphanet:1461 ICD9:746.89 ICD10CM:Q24.8 MESH:D003420 SCTID:253269002" +MONDO:0008329 "Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney." "GARD:0009145 Orphanet:171871 DOID:0060855 OMIM:177735 UMLS:C1449842 MESH:D011546 Orphanet:756 NCIT:C126810 ICD10CM:N25.8" UBERON:0001956 MONDO:0011596 "Any atopic eczema in which the cause of the disease is a mutation in the FLG gene." "UMLS:C1853965 DOID:0110098 OMIM:605803 MESH:C565293" CHR:9606-chr4p16.3 @@ -34319,34 +34297,34 @@ CHEBI:22562 "Any aromatic amine that is benzene carrying at least one amino sub MONDO:0000681 "An agnosia that is a loss of the ability to recognize or identify objects by touch alone." "DOID:0060151" MONDO:0044306 "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017})." "OMIM:617393 UMLS:C4479333 Orphanet:500545" MONDO:0018606 "UMLS:CN237640 Orphanet:440724" -MONDO:0008029 "A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles." "NCIT:C126688 UMLS:C1834674 ICD10:G71.0 MESH:C535436 SCTID:718572004 OMIM:616471 OMIMPS:158810 GARD:0000873 OMIM:158810 DOID:0050663 Orphanet:610" +MONDO:0008029 "A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles." "NCIT:C126688 UMLS:C1834674 ICD10CM:G71.0 MESH:C535436 SCTID:718572004 OMIM:616471 OMIMPS:158810 GARD:0000873 OMIM:158810 DOID:0050663 Orphanet:610" MONDO:0003349 "An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells." "UMLS:C1334385 NCIT:C6999 DOID:5254" MONDO:0014264 "OMIM:615589" -MONDO:0008982 "A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." "OMIM:215500 SCTID:231996009 OMIM:613105 OMIMPS:215500 ICD10:H31.2 ICD9:363.54 GARD:0010049 OMIM:613144 MESH:C535358 Orphanet:75377 SCTID:312918002" +MONDO:0008982 "A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." "ICD10CM:H31.2 OMIM:215500 SCTID:231996009 OMIM:613105 OMIMPS:215500 ICD9:363.54 GARD:0010049 OMIM:613144 MESH:C535358 Orphanet:75377 SCTID:312918002" UBERON:0003252 -MONDO:0009302 "Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive." "MESH:C565536 UMLS:C1856272 ICD10:Q99.1 OMIM:233430 GARD:0002541 Orphanet:1770" +MONDO:0009302 "Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive." "MESH:C565536 UMLS:C1856272 OMIM:233430 ICD10CM:Q99.1 GARD:0002541 Orphanet:1770" MONDO:0008117 -MONDO:0020283 "An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision." "DOID:13141 Orphanet:98715 ICD10:H20.9 SCTID:75614007 EFO:1001231 MedDRA:10046851 MESH:D014605 SCTID:128473001 UMLS:C0042164 NCIT:C26909 HP:0000554" +MONDO:0020283 "An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision." "DOID:13141 Orphanet:98715 SCTID:75614007 EFO:1001231 MedDRA:10046851 MESH:D014605 SCTID:128473001 UMLS:C0042164 NCIT:C26909 HP:0000554" GO:1903336 "Any process that stops, prevents or reduces the frequency, rate or extent of vacuolar transport." MONDO:0011769 MONDO:0021151 MONDO:0013066 "Orphanet:251510 UMLS:C2751824 DOID:0111772 OMIM:612965 Orphanet:242" MONDO:0010304 "OMIM:300351" UBERON:0004451 -MONDO:0019610 "Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion." "NCIT:C3453 ICD10:D37.7 UMLS:C0043515 GARD:0007918 DOID:0050782 ICD10:E16.4 MESH:D015043 SCTID:53132006 HP:0002044 ICD10:C25.4 MedDRA:10017852 EFO:0007549 MESH:D015408 Orphanet:913" +MONDO:0019610 "Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion." "NCIT:C3453 ICD10CM:C25.4 UMLS:C0043515 GARD:0007918 DOID:0050782 MESH:D015043 SCTID:53132006 HP:0002044 MedDRA:10017852 EFO:0007549 ICD10CM:E16.4 MESH:D015408 Orphanet:913" ECTO:9001630 "An exposure to endocrine disruptor." CHEBI:59252 "An organic anion arising from deprotonation of a acyclic tetrapyrrole compound." -MONDO:0018603 "OMIM:610913 UMLS:CN237633 Orphanet:440392 ICD10:J84.8" +MONDO:0018603 "ICD10CM:J84.8 OMIM:610913 UMLS:CN237633 Orphanet:440392" NBO:0000185 "\"Ability to become conscious of, or declare, facts and experiences.\" [NBO:GVG]" -MONDO:0006864 "A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." "EFO:1001057 ICD10:K11.8 DOID:12901 MedDRA:10072176 MESH:D012797 UMLS:C0037033 SCTID:109769000 ICD9:527.8" -MONDO:0011506 "OMIM:605021 UMLS:C0917800 ICD10:G40.3 Orphanet:352582" +MONDO:0006864 "A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." "EFO:1001057 DOID:12901 MedDRA:10072176 MESH:D012797 UMLS:C0037033 SCTID:109769000 ICD9:527.8" +MONDO:0011506 "OMIM:605021 ICD10CM:G40.3 UMLS:C0917800 Orphanet:352582" MONDO:0011474 "Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene." "MESH:C567037 DOID:0111076 Orphanet:871 SCTID:698250005 GARD:0002610 OMIM:604559 ICD9:426.6" -MONDO:0001050 "An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes." "SCTID:94146005 UMLS:C0155395 DOID:10516 ICD9:380.14 ICD10:H60.2 ICD10:H60.20" +MONDO:0001050 "An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes." "SCTID:94146005 ICD10CM:H60.2 UMLS:C0155395 DOID:10516 ICD9:380.14" GO:0045780 "Any process that activates or increases the frequency, rate or extent of bone resorption." MONDO:0005909 "Infections with viruses of the genus pestivirus, family flaviviridae." "MESH:D018182 EFO:0007432 UMLS:C0206611" MONDO:0004951 "The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." "UMLS:CN282826 NCIT:C14220 OMIM:609423" -MONDO:0002724 "A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)" "ICD10:D47.0 ICD9:238.79 DOID:3664 EFO:0009000 SCTID:414653009 NCIT:C9295 UMLS:C0334664" -MONDO:0021023 "Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." "Orphanet:99429 OMIM:300068 ICD10:E34.51 SCTID:368851000119102 NCIT:C120191 ICD10:E34.5 UMLS:CN207337 OMIM:300274 GARD:0010597" +MONDO:0002724 "A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)" "ICD9:238.79 DOID:3664 EFO:0009000 SCTID:414653009 NCIT:C9295 UMLS:C0334664" +MONDO:0021023 "Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens." "Orphanet:99429 OMIM:300068 SCTID:368851000119102 ICD10CM:E34.5 ICD10CM:E34.51 NCIT:C120191 UMLS:CN207337 GARD:0010597" MONDO:0012702 "OMIM:611598" MONDO:0003546 "A disease involving the oculomotor nerve." "NCIT:C27598 SCTID:60750009 DOID:562 MESH:D015840 UMLS:C0271353" MONDO:0021158 "SCTID:236772009 UMLS:C0341782" @@ -34356,26 +34334,26 @@ UBERON:0001950 MONDO:0010307 "MESH:C564528 UMLS:C1845860 OMIM:300355" HP:0000970 "Inability to sweat." "MEDDRA:10002512 SNOMEDCT_US:14662005 UMLS:C0003028 MSH:D007007 SNOMEDCT_US:39659002" MONDO:0042605 "HGNC:2682 GARD:0000185" -MONDO:0016029 "Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases." "ICD10:C30.0 SCTID:422886007 GARD:0002197 Orphanet:1957" +MONDO:0016029 "Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases." "SCTID:422886007 ICD10CM:C30.0 GARD:0002197 Orphanet:1957" http://identifiers.org/hgnc/10618 HP:0000989 "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." "SNOMEDCT_US:279333002 SNOMEDCT_US:424492005 SNOMEDCT_US:418290006 SNOMEDCT_US:418363000 MSH:D011537 UMLS:C0033774" MONDO:0000610 "Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia)." "DOID:0060068 MESH:D059905 SCTID:57181007" -MONDO:0000950 "Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches." "DOID:10141 ICD10:H53.14 MESH:D001248 UMLS:C0004095" +MONDO:0000950 "Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches." "DOID:10141 MESH:D001248 UMLS:C0004095" MONDO:0002222 "A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." "UMLS:C1336888 NCIT:C6171 DOID:2142" MONDO:0012547 "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene." "OMIM:610733 GARD:0010699 MESH:C548082 DOID:0060582 Orphanet:648 UMLS:C1853120" -MONDO:0011894 "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." "NCIT:C134953 ICD10:G60.0 OMIM:607684 DOID:0110165 GARD:0009193 Orphanet:99939 MESH:C537994 SCTID:717012004" +MONDO:0011894 "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." "NCIT:C134953 ICD10CM:G60.0 OMIM:607684 DOID:0110165 GARD:0009193 Orphanet:99939 MESH:C537994 SCTID:717012004" MONDO:0003260 "A cerebellar neoplasm that occurs in an adult." "NCIT:C5968 UMLS:C1332197 DOID:5056" MONDO:0036688 "A benign mesenchymal tumor arising from skeletal or cardiac muscle." "NCIT:C3358 SCTID:402877008 ICDO:8900/0 UMLS:C0035411 MESH:D012207" MONDO:0015009 "OMIM:617300" MONDO:0017406 "UMLS:CN203156 Orphanet:293967" GO:0006886 "The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell." -MONDO:0017886 "MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever." "UMLS:C4518356 ICD10:C64 OMIM:300854 SCTID:764694005 Orphanet:319308" +MONDO:0017886 "MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever." "UMLS:C4518356 ICD10CM:C64 OMIM:300854 SCTID:764694005 Orphanet:319308" MONDO:0004400 "A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize." "NCIT:C7999 DOID:7927 UMLS:C0279707 ICDO:8581/3" MONDO:0021157 "UMLS:C0812378 SCTID:237083000" -MONDO:0008701 "Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." "Orphanet:93299 Orphanet:932 ICD10:Q77.0 SCTID:42725006 GARD:0000459 OMIM:200600 DOID:0080054 MESH:C536015 ICD9:756.9" +MONDO:0008701 "Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." "Orphanet:93299 Orphanet:932 SCTID:42725006 GARD:0000459 ICD10CM:Q77.0 OMIM:200600 DOID:0080054 MESH:C536015 ICD9:756.9" MONDO:0013068 "MESH:C567834 OMIM:612976 UMLS:C2751814" MONDO:0003631 "A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen." "NCIT:C40201 DOID:5752 UMLS:C1516431" -MONDO:0010704 "Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies." "SCTID:54036001 ICD9:759.89 GARD:0005121 OMIM:311300 Orphanet:669 DOID:0111783 UMLS:C2748918 ICD10:Q87.0 Orphanet:90650 NCIT:C118845" +MONDO:0010704 "Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies." "SCTID:54036001 ICD9:759.89 GARD:0005121 OMIM:311300 Orphanet:669 DOID:0111783 UMLS:C2748918 ICD10CM:Q87.0 Orphanet:90650 NCIT:C118845" CHEBI:58951 "Any fatty acid anion obtained by removal of a proton from the carboxy group of a short-chain fatty acid (chain length of less than C6)." MONDO:0021251 "A neoplasm (disease) that involves the endometrium." "NCIT:C3012 ICD9:239.5 SCTID:123844007 MESH:D016889" CHEBI:76736 "An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on a heme group of donors (EC 1.9.*.*)." @@ -34384,11 +34362,11 @@ MONDO:0042604 "GARD:0000154 MESH:C537233 UMLS:C2931451" MONDO:0018867 MONDO:0012705 "OMIM:611630 MESH:C566903 DOID:0060750 Orphanet:163717 UMLS:C1968848" MONDO:0018601 "Orphanet:440354 UMLS:CN237631" -MONDO:0014799 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene." "UMLS:C4225182 ICD10:Q12.0 DOID:0110262 OMIM:616851" +MONDO:0014799 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene." "UMLS:C4225182 DOID:0110262 OMIM:616851" MONDO:0700067 "Any myopathy in which the cause of the disease is a variation in the FKTN gene." -MONDO:0001252 "Nodular enlargement of the thyroid gland associated with hyperthyroidism." "SCTID:57777000 DOID:11277 EFO:0009191 ICD9:242.30 NCIT:C35171 UMLS:C0342127 ICD10:E05.2 ICD9:242.3" -MONDO:0013069 "UMLS:C2751812 Orphanet:227976 ICD10:H47.2 DOID:0111437 OMIM:612989 MESH:C567833" -MONDO:0008800 "Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." "OMIM:206920 SCTID:703403003 ICD10:Q87.2 DOID:0060861 ICD9:755.8 MESH:C537769 GARD:0000722 Orphanet:1106" +MONDO:0001252 "Nodular enlargement of the thyroid gland associated with hyperthyroidism." "SCTID:57777000 DOID:11277 EFO:0009191 ICD9:242.30 NCIT:C35171 UMLS:C0342127 ICD9:242.3" +MONDO:0013069 "UMLS:C2751812 ICD10CM:H47.2 Orphanet:227976 DOID:0111437 OMIM:612989 MESH:C567833" +MONDO:0008800 "Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." "OMIM:206920 SCTID:703403003 ICD10CM:Q87.2 DOID:0060861 ICD9:755.8 MESH:C537769 GARD:0000722 Orphanet:1106" GO:0010911 "Any process that modulates the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5." MONDO:0100078 "A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatement with 3 or more antihypertensive drugs including diuretics are ineffective." MONDO:0013903 "UMLS:C3553801 OMIM:614826" @@ -34397,26 +34375,26 @@ MONDO:0017669 "Orphanet:307711 UMLS:CN203554" HP:0010976 "An abnormal decrease from the normal count of B cells." "UMLS:C1855067" MONDO:0015008 "OMIM:617297" MONDO:0011508 "UMLS:C0024305 ICD9:202.80 Orphanet:547 OMIM:605027 SCTID:118601006" -MONDO:0017403 "UMLS:CN203147 ICD10:I42.8 OMIM:107970 Orphanet:293910 OMIM:610193" +MONDO:0017403 "UMLS:CN203147 OMIM:107970 ICD10CM:I42.8 Orphanet:293910 OMIM:610193" MONDO:0022462 "A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder." "GARD:0000716" UBERON:0002051 MONDO:0003596 "A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma." "ICD9:171.9 NCIT:C27489 DOID:5705 SCTID:404073009 UMLS:C1275275" UBERON:0001952 -MONDO:0009377 "N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia." "MESH:C536109 OMIM:237310 SCTID:57119000 GARD:0007158 Orphanet:927 ICD10:E72.2 NCIT:C129307" +MONDO:0009377 "N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia." "ICD10CM:E72.2 MESH:C536109 OMIM:237310 SCTID:57119000 GARD:0007158 Orphanet:927 NCIT:C129307" MONDO:0000500 "A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis." "UMLS:C0007137 SCTID:276952000 UMLS:C0349566 NCIT:C4648 SCTID:402815007 DOID:0050865 NCIT:C2929 EFO:1000055 MESH:D002294" MONDO:0042603 "UMLS:C2931450 MESH:C537232 GARD:0000153" MONDO:0001597 "A disease involving the submandibular gland." "MESH:D013364 DOID:12897 UMLS:C0038557" MONDO:0010309 "UMLS:C1845810 MESH:C564524 OMIM:300372" -MONDO:0016205 "GARD:0012868 UMLS:C3665812 ICD10:H35.0 Orphanet:209943" -MONDO:0018602 "Orphanet:440368 ICD9:136.9 SCTID:443928008 ICD10:M72.6 UMLS:CN237632 UMLS:C2732890 ICD9:729.99" +MONDO:0016205 "GARD:0012868 UMLS:C3665812 ICD10CM:H35.0 Orphanet:209943" +MONDO:0018602 "Orphanet:440368 ICD9:136.9 SCTID:443928008 UMLS:CN237632 UMLS:C2732890 ICD10CM:M72.6 ICD9:729.99" MONDO:0011507 "OMIM:605026 UMLS:C1857958 MESH:C565730" http://identifiers.org/hgnc/16973 -MONDO:0009821 "Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course." "ICD10:Q78.2 UMLS:C1850106 MESH:C535282 Orphanet:1832 GARD:0000282 OMIM:259775" +MONDO:0009821 "Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course." "UMLS:C1850106 ICD10CM:Q78.2 MESH:C535282 Orphanet:1832 GARD:0000282 OMIM:259775" ENVO:01000280 "Ecozones delineate large areas of a planetary surface within which organisms have been evolving in relative isolation over long periods of time, separated from one another by geographic features, such as oceans, broad deserts, or high mountain ranges, that constitute barriers to migration." -MONDO:0019940 "Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type." "UMLS:CN226272 Orphanet:966 SCTID:721837000 ICD10:Q87.0 GARD:0000502" +MONDO:0019940 "Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type." "UMLS:CN226272 Orphanet:966 SCTID:721837000 ICD10CM:Q87.0 GARD:0000502" GO:0100002 "Any protein phosphorylation process that negatively regulates protein kinase activity." -MONDO:0019806 "Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA)." "Orphanet:95432 GARD:0008541 MESH:D018888 EFO:0009053 ICD10:G31.0 NCIT:C85024 UMLS:C0282513" -MONDO:0015717 "Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "ICD10:D67 Orphanet:169799 UMLS:CN200229" +MONDO:0019806 "Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA)." "Orphanet:95432 ICD10CM:G31.0 GARD:0008541 MESH:D018888 EFO:0009053 NCIT:C85024 UMLS:C0282513" +MONDO:0015717 "Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." "Orphanet:169799 ICD10CM:D67 UMLS:CN200229" MONDO:0015007 "Orphanet:521390 OMIM:617296 UMLS:C4284592" UBERON:0002050 MONDO:0015460 "OBSOLETE. A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." @@ -34425,41 +34403,41 @@ UBERON:0001951 UBERON:0022303 MONDO:0044278 "OBSOLETE. In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset." "OMIMPS:612975" MONDO:0043424 "A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system." "NCIT:C35503 SCTID:715852004" -MONDO:0001924 "ICD9:362.76 ICD10:H35.54 DOID:14252" +MONDO:0001924 "ICD10CM:H35.54 DOID:14252 ICD9:362.76" MONDO:0042602 "UMLS:C2931449 MESH:C537231 GARD:0000152" -MONDO:0022714 "Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic." "GARD:0010185" +MONDO:0022714 "Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic." "GARD:0010185 OMIM:176010" MONDO:0100059 "Long-lasting, unexplained and asymptomatic blood hypereosinophilia." ENVO:01001088 "An aerosol which has non-gaseous parts that are primarily composed of liquid droplets." MONDO:0018548 "Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine." "Orphanet:43119 UMLS:CN227538" -MONDO:0007896 "Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11)." "UMLS:C0023479 DOID:8864 EFO:0000221 UMLS:C0023465 ICDO:9891/3 CSP:2004-2820 ICD9:206.0 MedDRA:10059439 ONCOTREE:AMOL SCTID:413441006 ICD10:C92.7 Orphanet:514 MESH:D007948 OMIM:151380 NCIT:C4861 UMLS:C1318544 MedDRA:10000871 GARD:0000525" -MONDO:0018044 "Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time." "ICD10:F51.1 Orphanet:33208 NCIT:C116343 MESH:D020177 GARD:0008737 SCTID:3731000119107 UMLS:C0751757" -MONDO:0005870 "A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia." "NCIT:C34838 ICD9:126.9 DOID:2790 UMLS:C0027528 MESH:D009332 ICD10:B76.1 SCTID:36667009 EFO:0007390" -MONDO:0008747 "Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population." "SCTID:63450009 GARD:0009641 ICD9:270.2 OMIM:203290 GARD:0004039 ICD10:E70.3 DOID:0070097 Orphanet:79433 MESH:C537731" +MONDO:0007896 "Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11)." "UMLS:C0023479 DOID:8864 EFO:0000221 UMLS:C0023465 ICDO:9891/3 CSP:2004-2820 ICD9:206.0 MedDRA:10059439 ONCOTREE:AMOL SCTID:413441006 Orphanet:514 MESH:D007948 OMIM:151380 NCIT:C4861 UMLS:C1318544 MedDRA:10000871 GARD:0000525" +MONDO:0018044 "Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time." "Orphanet:33208 NCIT:C116343 MESH:D020177 GARD:0008737 SCTID:3731000119107 UMLS:C0751757" +MONDO:0005870 "A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia." "NCIT:C34838 ICD9:126.9 DOID:2790 UMLS:C0027528 MESH:D009332 SCTID:36667009 EFO:0007390 ICD10CM:B76.1" +MONDO:0008747 "Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population." "SCTID:63450009 DOID:0070097 Orphanet:79433 MESH:C537731 GARD:0004039 OMIM:278400 GARD:0009641 OMIM:203290 ICD10CM:E70.3 ICD9:270.2" UBERON:0015215 http://identifiers.org/hgnc/10872 MONDO:0010349 "Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene." "Orphanet:243 OMIM:300510 DOID:0080494 UMLS:C1845294 MESH:C564499" -MONDO:0017176 "Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." "ICD10:G11.8 Orphanet:276244 SCTID:91955005" +MONDO:0017176 "Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." "Orphanet:276244 SCTID:91955005 ICD10CM:G11.8" NCBITaxon:92251 "GC_ID:1" MONDO:0002100 "A primary or metastatic malignant neoplasm involving the cardiovascular system." "NCIT:C114940 NCIT:C4784 UMLS:C0497243 DOID:176 UMLS:C3898472" MONDO:0013765 "Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene." "OMIM:614466" MONDO:0004683 -MONDO:0000330 "A bacterial infection caused by Rickettsia typhi." "Orphanet:83315 MedDRA:10028282 NCIT:C84688 ICD10:A75.2 DOID:0050481 UMLS:CN206047 MESH:D014437" +MONDO:0000330 "A bacterial infection caused by Rickettsia typhi." "Orphanet:83315 MedDRA:10028282 NCIT:C84688 DOID:0050481 UMLS:CN206047 MESH:D014437" MONDO:0002288 -MONDO:0018011 "Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients." "SCTID:766252004 ICD10:M33.0 Orphanet:329894" +MONDO:0018011 "Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients." "SCTID:766252004 ICD10CM:M33.0 Orphanet:329894" GO:0044421 "OBSOLETE. Any constituent part of the extracellular region, the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers constituent parts of the host cell environment outside an intracellular parasite." MONDO:0001925 "ICD9:362.71 DOID:14253" MONDO:0042601 "GARD:0000151 MESH:C537230 UMLS:C2931448" -MONDO:0008825 "Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence." "GARD:0000792 Orphanet:1150 UMLS:C1859711 OMIM:208155 SCTID:720514008 MESH:C538401 ICD10:Q87.8" +MONDO:0008825 "Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence." "GARD:0000792 Orphanet:1150 UMLS:C1859711 OMIM:208155 SCTID:720514008 MESH:C538401 ICD10CM:Q87.8" MONDO:0003221 MONDO:0013475 "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene." "UMLS:C3151265 OMIM:613874 DOID:0110324" GO:0060089 "A compound molecular function in which an effector function is controlled by one or more regulatory components." http://identifiers.org/hgnc/5351 MONDO:0021389 "A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels." "ICDO:8691/1 NCIT:C4218 ICD9:239.7 UMLS:C0334417 SCTID:127029006" -MONDO:0005905 "Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)" "UMLS:C0751774 EFO:0007428 DOID:9207 ICD10:G47.61 SCTID:418763003 ICD9:327.51" -MONDO:0001574 "A disease involving a capillary." "SCTID:58729003 ICD10:I78.9 ICD9:448 ICD9:448.9 ICD10:I78 UMLS:C0155765 DOID:1271" +MONDO:0005905 "Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)" "UMLS:C0751774 EFO:0007428 DOID:9207 ICD10CM:G47.61 SCTID:418763003 ICD9:327.51" +MONDO:0001574 "A disease involving a capillary." "SCTID:58729003 ICD9:448 ICD9:448.9 UMLS:C0155765 DOID:1271" MONDO:0100156 "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances." "OMIM:261100 NCIT:C131677" -MONDO:0010066 "Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings." "MESH:C563028 ICD10:Q89.0 Orphanet:101351 SCTID:726708009 OMIM:271400" -MONDO:0009696 "Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." "EFO:0006572 MESH:D020190 GARD:0006808 OMIM:613060 ICD10:G40.3 OMIM:254770 MedDRA:10071082 OMIM:608816 Orphanet:307 OMIM:604827 OMIM:614280 OMIM:607628 SCTID:6204001 OMIMPS:254770 UMLS:C0270853 OMIM:611364 DOID:4890 ICD9:345.10 OMIM:607682 OMIM:611136 NCIT:C84796" +MONDO:0010066 "Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings." "MESH:C563028 ICD10CM:Q89.0 Orphanet:101351 SCTID:726708009 OMIM:271400" +MONDO:0009696 "Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." "EFO:0006572 MESH:D020190 GARD:0006808 OMIM:613060 ICD10CM:G40.3 OMIM:254770 MedDRA:10071082 OMIM:608816 OMIM:606904 Orphanet:307 OMIM:604827 OMIM:614280 OMIM:607628 SCTID:6204001 OMIMPS:254770 UMLS:C0270853 OMIM:611364 DOID:4890 ICD9:345.10 OMIM:607682 OMIM:611136 NCIT:C84796" GO:0002790 "The controlled release of a peptide from a cell or a tissue." MONDO:0005435 "Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." "EFO:0004826" MONDO:0042600 "GARD:0000150" @@ -34467,44 +34445,44 @@ http://identifiers.org/hgnc/2847 NCBITaxon:11620 "GC_ID:1" MONDO:0002023 MONDO:0003484 -MONDO:0016161 "Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome." "ICD10:Q04.8 SCTID:725418006 Orphanet:2081 GARD:0001206 UMLS:CN200907" +MONDO:0016161 "Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome." "SCTID:725418006 Orphanet:2081 GARD:0001206 UMLS:CN200907 ICD10CM:Q04.8" GO:0009913 "The process in which a relatively unspecialized cell acquires specialized features of an epidermal cell, any of the cells making up the epidermis." GO:0050778 "Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus." -MONDO:0016459 "The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." "ICD10:Q93.5 OMIM:156200 SCTID:719657001 GARD:0010998 Orphanet:228402" +MONDO:0016459 "The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." "ICD10CM:Q93.5 OMIM:156200 SCTID:719657001 GARD:0010998 Orphanet:228402" MONDO:0003336 "A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)" "ICD9:049.8 UMLS:C0338418 NCIT:C35383 GARD:0013233 DOID:5222 SCTID:111897007" MONDO:0001089 "SCTID:65547006 DOID:10649 ICD9:410.20 ICD9:410.21 ICD9:410.22 UMLS:C0340308" -MONDO:0009387 "Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines." "MESH:D008072 ICD9:272.3 Orphanet:309015 NCIT:C84771 SCTID:275598004 DOID:14118 OMIM:238600 ICD10:E78.3 GARD:0012241" +MONDO:0009387 "Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines." "MESH:D008072 ICD9:272.3 Orphanet:309015 NCIT:C84771 SCTID:275598004 DOID:14118 OMIM:238600 GARD:0012241 ICD10CM:E78.3" UBERON:0015479 MONDO:0000725 -MONDO:0000942 "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma." "NCIT:C26731 DOID:10124 MESH:D003316 ICD9:371.9 ICD10:H18.9 UMLS:C0010034 ICD9:371.89 ICD9:371.30 SCTID:15250008" +MONDO:0000942 "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma." "NCIT:C26731 DOID:10124 MESH:D003316 ICD9:371.9 UMLS:C0010034 ICD9:371.89 ICD9:371.30 ICD10CM:H15-H22 SCTID:15250008" MONDO:0001575 "Chronic form of gonococcal salpingitis." "ICD9:098.37 SCTID:53529004 UMLS:C0153208 DOID:12718" -MONDO:0002898 "A malignant neoplasm involving the zone of skin" "UMLS:C0007114 MESH:D012878 GARD:0010421 ICD9:173.8 NCIT:C2920 SCTID:372130007 DOID:4159 ICD10:C43.C44 ICD9:173.9" -MONDO:0006230 "A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." "ICD10:C16.5 UMLS:CN237470 Orphanet:418959 SCTID:766980008 NCIT:C5475 ICD10:C16.2 ICD10:C16.8 ICD10:C16.4 EFO:1000278 UMLS:C1333789 ICD10:C16.1 DOID:5516 ICD10:C16.0 ICD10:C16.3" +MONDO:0002898 "A malignant neoplasm involving the zone of skin" "UMLS:C0007114 MESH:D012878 GARD:0010421 ICD9:173.8 NCIT:C2920 SCTID:372130007 DOID:4159 ICD10CM:C43-C44 ICD9:173.9" +MONDO:0006230 "A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." "UMLS:CN237470 Orphanet:418959 SCTID:766980008 NCIT:C5475 EFO:1000278 UMLS:C1333789 DOID:5516" GO:1904774 "Any process that stops, prevents or reduces the frequency, rate or extent of ubiquinone biosynthetic process." NCBITaxon:11623 "GC_ID:1" MONDO:0012309 "Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene." "UMLS:C1865044 Orphanet:60015 MESH:C566510 OMIM:609597" MONDO:0002020 MONDO:0022642 "A rare carcinoid tumor that occurs during childhood." "NCIT:C118810 GARD:0009315 UMLS:C3899673" -MONDO:0012308 "Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." "NCIT:C74997 Orphanet:220497 OMIM:614424 GARD:0010169 OMIM:611560 ICD10:Q61.5 DOID:0110999 MESH:C536296 SCTID:716999001 ICD10:Q04.3 OMIM:609583" -MONDO:0001923 "ICD9:362.73 ICD10:H35.51 SCTID:79556007 DOID:14251 UMLS:C0154863" +MONDO:0012308 "Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." "NCIT:C74997 Orphanet:220497 ICD10CM:Q04.3 OMIM:614424 GARD:0010169 OMIM:611560 ICD10CM:Q61.5 DOID:0110999 MESH:C536296 SCTID:716999001 OMIM:609583" +MONDO:0001923 "ICD10CM:H35.51 ICD9:362.73 SCTID:79556007 DOID:14251 UMLS:C0154863" http://identifiers.org/hgnc/32689 MONDO:0003485 MONDO:0005882 MONDO:0001088 "SCTID:76593002 ICD9:410.31 ICD9:410.32 UMLS:C0340304 DOID:10648 ICD9:410.30" MONDO:0006801 "A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma." "UMLS:C0020876 NCIT:C3130 SCTID:126835002 MESH:D007078 DOID:10156 EFO:1000981" -MONDO:0017799 "A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass." "UMLS:C0025184 MESH:D008539 NCIT:C3223 Orphanet:314451 SCTID:63402005 ICD10:D27 ICD9:629.89 MedDRA:10027139" +MONDO:0017799 "A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass." "UMLS:C0025184 MESH:D008539 ICD10CM:D27 NCIT:C3223 Orphanet:314451 SCTID:63402005 ICD9:629.89 MedDRA:10027139" GO:1903488 "Any process that stops, prevents or reduces the frequency, rate or extent of lactation." -MONDO:0020492 "Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy." "UMLS:C0431391 ICD9:742.4 ICD10:Q04.5 GARD:0002637 SCTID:253170008 Orphanet:99802 MESH:D065705" +MONDO:0020492 "Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy." "UMLS:C0431391 ICD9:742.4 GARD:0002637 SCTID:253170008 Orphanet:99802 ICD10CM:Q04.5 MESH:D065705" UBERON:0015214 GO:0015075 "Enables the transfer of an ion from one side of a membrane to the other." -MONDO:0017182 "An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome." "ICD10:E16.1 Orphanet:276525 NCIT:C131425" +MONDO:0017182 "An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome." "Orphanet:276525 ICD10CM:E16.1 NCIT:C131425" MONDO:0007180 "MESH:C566234 UMLS:C1862373 Orphanet:1831 OMIM:109120" MONDO:0043771 "A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation." "SCTID:49084001 NCIT:C3349 MESH:D011855 EFO:1001840" NCBITaxon:147389 "GC_ID:1" -MONDO:0015739 "Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset." "ICD10:G71.2 UMLS:C0546123 Orphanet:171442 GARD:0012824" +MONDO:0015739 "Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset." "UMLS:C0546123 Orphanet:171442 GARD:0012824 ICD10CM:G71.2" HP:0010989 "An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade." "UMLS:C4023610" MONDO:0006540 "A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)" "DOID:9230 UMLS:C0032633 ICD9:705.81 SCTID:402567004 MESH:D011146 Wikipedia:Dyshidrosis ICD9:692.9 EFO:1000688" -MONDO:0002313 "Inflammation of the cornea that is seasonal in nature." "SCTID:318316003 ICD9:372.13 UMLS:C0009773 DOID:2474 ICD10:H10.44 NCIT:C34508" +MONDO:0002313 "Inflammation of the cornea that is seasonal in nature." "SCTID:318316003 ICD9:372.13 UMLS:C0009773 ICD10CM:H10.44 DOID:2474 NCIT:C34508" MONDO:0011763 "OMIM:607044" MONDO:0024883 "A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology." "ICDO:8000/6 NCIT:C3261" MONDO:0011366 "A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." "UMLS:C0346180 EFO:1000419 OMIM:603737 GARD:0009330 ICD9:239.5 NCIT:C3873 UMLS:C0238324 DOID:2156 ONCOTREE:OGCT Orphanet:35807 SCTID:237059008" @@ -34513,14 +34491,14 @@ MONDO:0003856 "A malignant hemangiopericytoma occurring in the adult population. http://identifiers.org/hgnc/10610 MONDO:0004378 "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children." "UMLS:C1332962 DOID:7841 NCIT:C6957" UBERON:0015477 -MONDO:0005960 "Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition." "NCIT:C3369 ICD9:502 ICD10:J62 DOID:10325 GARD:0007647 ICD10:J62.8 UMLS:C0037116 SCTID:805002 EFO:0007485 MESH:D012829" +MONDO:0005960 "Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition." "NCIT:C3369 ICD9:502 DOID:10325 GARD:0007647 UMLS:C0037116 SCTID:805002 EFO:0007485 MESH:D012829" MONDO:0021150 CHEBI:33429 MONDO:0002284 -MONDO:0016847 "Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections." "Orphanet:261344 SCTID:768927001 ICD10:Q92.2" +MONDO:0016847 "Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections." "ICD10CM:Q92.2 Orphanet:261344 SCTID:768927001" MONDO:0006686 "Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." "UMLS:C0521542 MESH:D020526 SCTID:95457000 EFO:1000847 DOID:3523 ICD9:434.91" MONDO:0019445 "Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair." "ICDO:8101/0 GARD:0005263 SCTID:274899008 MedDRA:10044611 NCIT:C4112 UMLS:C0334262 MESH:C536553 Orphanet:864" -MONDO:0011382 "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur." "MedDRA:10040641 ICD9:282.60 EFO:1001797 OMIM:603903 NCIT:C34383 DOID:10923 ICD9:282.63 ICD10:D57.1 ICD9:282.6 ICD10:D57.20 UMLS:C0002895 Orphanet:232 MESH:D000755 ICD10:D57.2 GARD:0008614 ICD10:D57 ICD10:D57.0" +MONDO:0011382 "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur." "MedDRA:10040641 ICD9:282.60 EFO:1001797 OMIM:603903 ICD10CM:D57.1 NCIT:C34383 DOID:10923 ICD10CM:D57.0 ICD10CM:D57.2 ICD9:282.63 ICD9:282.6 UMLS:C0002895 Orphanet:232 MESH:D000755 GARD:0008614" MONDO:0002782 "Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness." "UMLS:C0151311 NCIT:C26941 DOID:3817 MESH:D003389 SCTID:73013002" MONDO:0000931 "A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma." "NCIT:C3504 DOID:1005 SCTID:418632009" MONDO:0041259 "An myocarditis caused by infection with Corynebacterium diphtheriae." "SCTID:26117009 UMLS:C0152952" @@ -34532,22 +34510,22 @@ UBERON:0015212 MONDO:0004693 "A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues." "ICDO:8070/2 NCIT:C27093 UMLS:C0334245 ICDO:8077/2" GO:0035948 "OBSOLETE. Any process that activates or increases the frequency, rate or extent of gluconeogenesis by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter." MONDO:0002720 "A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma." "ONCOTREE:SELT NCIT:C4944 DOID:3643 UMLS:C0748616" -MONDO:0016559 "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate." "OMIM:251750 ICD10:Q15.8 GARD:0010942 Orphanet:238763 UMLS:CN201642" +MONDO:0016559 "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate." "ICD10CM:Q15.8 OMIM:251750 GARD:0010942 Orphanet:238763 UMLS:CN201642" MONDO:0013216 "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene." "UMLS:C2750081 Orphanet:124 OMIM:613308 MESH:C567650" PATO:0002288 "An elasticity which is relatively low." NCBITaxon:147387 "GC_ID:1" -MONDO:0019807 "SCTID:16567006 ICD10:Q24.8 Orphanet:95443 ICD9:746.87 HP:0011599" -MONDO:0019626 "Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors." "ICD10:Q10.3 Orphanet:91397" +MONDO:0019807 "ICD10CM:Q24.8 SCTID:16567006 Orphanet:95443 ICD9:746.87 HP:0011599" +MONDO:0019626 "Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors." "ICD10CM:Q10.3 Orphanet:91397" MONDO:0000720 -MONDO:0015090 "Autosomal recessive form of pure hereditary spastic paraplegia." "Orphanet:100982 UMLS:CN228910 ICD10:G11.4" -MONDO:0004593 "Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice." "ICD10:N75.0 NCIT:C26706 UMLS:C0004767 DOID:851 SCTID:57044006 ICD9:616.2" +MONDO:0015090 "Autosomal recessive form of pure hereditary spastic paraplegia." "Orphanet:100982 UMLS:CN228910 ICD10CM:G11.4" +MONDO:0004593 "Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice." "NCIT:C26706 UMLS:C0004767 DOID:851 SCTID:57044006 ICD9:616.2 ICD10CM:N75.0" GO:2000610 "Any process that stops, prevents or reduces the frequency, rate or extent of thyroid hormone generation." -MONDO:0001127 "A tendinitis that involves the tibialis." "UMLS:C0158321 SCTID:50127006 ICD9:726.72 DOID:10810" +MONDO:0001127 "A tendinitis that involves the tibialis." "UMLS:C0158321 ICD9:726.72 SCTID:50127006 DOID:10810" UBERON:0007023 "A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage." MONDO:0054850 "OMIM:618078 DOID:0080498" MONDO:0006367 "An adenoid cystic carcinoma that arises from the pharynx." "NCIT:C5818 UMLS:C1335399 EFO:1000472" GO:0061702 "A cytosolic protein complex that is capable of activating caspase-1." -MONDO:0005844 "An eyelid cyst caused by the blockage of a meibomian gland." "MESH:D017043 NCIT:C26717 UMLS:C0007933 ICD9:373.2 EFO:0007363 ICD10:H00.1 SCTID:1482004 DOID:9903" +MONDO:0005844 "An eyelid cyst caused by the blockage of a meibomian gland." "MESH:D017043 UMLS:C0007933 NCIT:C26717 ICD10CM:H00.1 ICD9:373.2 EFO:0007363 SCTID:1482004 DOID:9903" GO:0006000 "The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey." MONDO:0002837 "A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features." "UMLS:C0334271 ICDO:8122/3 DOID:4014 NCIT:C4120" GO:0043032 "Any process that stimulates, induces or increases the rate of macrophage activation." @@ -34556,31 +34534,31 @@ MONDO:0012938 "Any Diamond-Blackfan anemia in which the cause of the disease is MONDO:0010301 MONDO:0010567 "UMLS:C1844775 GARD:0010119 OMIM:304030 MESH:C535975 Orphanet:1871" PATO:0001796 "A coiling which is relatively low." -MONDO:0011050 "Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." "OMIM:601355 SCTID:719379001 Orphanet:2516 GARD:0002098 MESH:C563341 ICD10:Q87.8" +MONDO:0011050 "Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." "OMIM:601355 SCTID:719379001 Orphanet:2516 GARD:0002098 MESH:C563341 ICD10CM:Q87.8" GO:0002573 "The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage." CL:2000017 "Any fibroblast that is part of a periodontal ligament." -MONDO:0011327 "Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss." "GARD:0003971 Orphanet:2289 SCTID:715437003 MESH:C537395 OMIM:603472 ICD10:G31.0 NCIT:C122655 UMLS:C1863843" -MONDO:0001084 "DOID:10627 UMLS:C0155291 SCTID:21098003 ICD9:377.11 ICD10:H47.21" +MONDO:0011327 "Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss." "GARD:0003971 Orphanet:2289 SCTID:715437003 ICD10CM:G31.0 MESH:C537395 OMIM:603472 NCIT:C122655 UMLS:C1863843" +MONDO:0001084 "DOID:10627 UMLS:C0155291 SCTID:21098003 ICD9:377.11" MONDO:0000985 http://identifiers.org/hgnc/32685 UBERON:0015476 MONDO:0008647 "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." "OMIM:192600 DOID:0110307" MONDO:0043314 "A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure." "MESH:C535526 GARD:0009712 UMLS:C0275708 SCTID:240417004" -MONDO:0016158 "Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions)." "OMIM:161400 OMIM:609039 OMIM:612851 ICD10:G47.41 ICD10:G47.419 ICD9:347.0 SCTID:60380001 NCIT:C84489 OMIM:614223 GARD:0007162 ICD10:G47.4 MESH:D009290 OMIM:612417 Orphanet:2073 DOID:8986 EFO:0000614 OMIM:614250 OMIM:605841 MedDRA:10028713" +MONDO:0016158 "Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions)." "ICD10CM:G47.419 OMIM:161400 OMIM:609039 OMIM:612851 ICD9:347.0 SCTID:60380001 NCIT:C84489 OMIM:614223 GARD:0007162 MESH:D009290 OMIM:612417 Orphanet:2073 DOID:8986 ICD10CM:G47.4 EFO:0000614 OMIM:614250 OMIM:605841 MedDRA:10028713" GO:1903337 "Any process that activates or increases the frequency, rate or extent of vacuolar transport." NCBITaxon:1131492 "GC_ID:1" MONDO:0010300 "MESH:C564533 Orphanet:777 OMIM:300324 UMLS:C1845889" GO:0015721 "The directed movement of bile acid and bile salts into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." -MONDO:0014729 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene." "Orphanet:459056 OMIM:616680 DOID:0110820 ICD10:G11.4 UMLS:C4225250 EFO:0009018" +MONDO:0014729 "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene." "Orphanet:459056 OMIM:616680 ICD10CM:G11.4 DOID:0110820 UMLS:C4225250 EFO:0009018" MONDO:0010566 "OMIM:304020 GARD:0010652 DOID:0111008 MESH:C564438 Orphanet:1872" -MONDO:0004680 "ICD9:287.39 UMLS:C0701157 ICD10:D69.49 ICD9:287.30 SCTID:267534000 DOID:8925 ICD10:D69.4 ICD9:287.3" +MONDO:0004680 "ICD9:287.39 UMLS:C0701157 ICD9:287.30 SCTID:267534000 DOID:8925 ICD9:287.3" MONDO:0004340 "A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites." "DOID:7716 UMLS:C1301048 NCIT:C6879" http://identifiers.org/hgnc/8941 -MONDO:0007420 "Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." "Orphanet:79499 OMIM:124480 GARD:0004732 ICD10:Q87.8 UMLS:C2675730 Orphanet:3231" +MONDO:0007420 "Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." "Orphanet:79499 OMIM:124480 GARD:0004732 UMLS:C2675730 Orphanet:3231 ICD10CM:Q87.8" MONDO:0005877 -MONDO:0018082 "Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle." "HP:0011627 UMLS:CN225932 ICD10:Q20.8 Orphanet:3400" +MONDO:0018082 "Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle." "HP:0011627 UMLS:CN225932 Orphanet:3400 ICD10CM:Q20.8" MONDO:0044879 "A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation." "ONCOTREE:MCN NCIT:C41247" -MONDO:0018906 "Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved." "ICD10:C82.7 UMLS:C0024301 ICD10:C82.0 Orphanet:545 OMIM:613024 NCIT:C3209 ICD10:C82.5 ICD10:C82.3 ICD10:C82.1 MESH:D008224 GARD:0002356 DOID:0050873 ICDO:9690/3 ICD10:C82.6 ICD10:C82.9 ICD10:C82.4 ICD10:C82.2 ONCOTREE:FL SCTID:308121000 HGNC:990" +MONDO:0018906 "Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved." "UMLS:C0024301 ICD10CM:C82.1 ICD10CM:C82.9 ICD10CM:C82.4 Orphanet:545 OMIM:613024 NCIT:C3209 ICD10CM:C82.2 MESH:D008224 ICD10CM:C82.5 GARD:0002356 DOID:0050873 ICDO:9690/3 ICD10CM:C82.3 ONCOTREE:FL ICD10CM:C82.6 SCTID:308121000 HGNC:990 ICD10CM:C82.0" MONDO:0021287 "A in situ carcinoma that involves the epiglottis." "UMLS:C0347103 SCTID:92584005 NCIT:C4592" MONDO:0003412 "A benign or malignant hemangiopericytoma arising from the retroperitoneum." "DOID:5373 NCIT:C5386 UMLS:C1335777" MONDO:0008370 "SCTID:723502001 UMLS:C1867332 MESH:C566721 Orphanet:99002 OMIM:179840" @@ -34590,24 +34568,24 @@ MONDO:0002018 http://identifiers.org/hgnc/9040 HP:0002624 "An anomaly of vein." "UMLS:C0241665" MONDO:0015276 -MONDO:0016051 "Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." "UMLS:C2931789 GARD:0000435 Orphanet:1995 ICD10:Q87.8 MESH:C538272" +MONDO:0016051 "Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." "ICD10CM:Q87.8 UMLS:C2931789 GARD:0000435 Orphanet:1995 MESH:C538272" UBERON:0010580 -MONDO:0020242 "Macular dystrophy that is related to a change in a gene." "SCTID:276436007 ICD10:H35.5 NCIT:C140264 Orphanet:98664" +MONDO:0020242 "Macular dystrophy that is related to a change in a gene." "SCTID:276436007 ICD10CM:H35.5 NCIT:C140264 Orphanet:98664" MF:0000061 "Orgasm is the sudden discharge of accumulated sexual tension during the sexual response cycle, resulting in rhythmic muscular contractions in the pelvic region characterized by sexual pleasure.\n\nhttp://en.wikipedia.org/wiki/Orgasm" MONDO:0025478 "Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur." "UMLS:C0042465 MESH:D014685" UBERON:0015485 MONDO:0017671 "UMLS:CN203557 Orphanet:307804" MONDO:0003217 -MONDO:0008563 "Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case." "ICD10:Q87.2 Orphanet:1078 GARD:0004375 GARD:0005200 OMIM:188201" +MONDO:0008563 "Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case." "Orphanet:1078 GARD:0004375 ICD10CM:Q87.2 GARD:0005200 OMIM:188201" MONDO:0005505 "A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B" "GARD:0010640 EFO:0005551 NCIT:C9505 DOID:2679 ONCOTREE:DNT SCTID:87211000119104 UMLS:C1266177 ICDO:9413/0 Orphanet:251946" ENVO:01000813 "A material part of an astronomical body." http://identifiers.org/hgnc/15506 MONDO:0100367 "A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979." "Orphanet:2703" http://identifiers.org/hgnc/6545 GO:0050802 "The part of the circadian sleep/wake cycle where the organism is asleep." -MONDO:0010285 "X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations." "GARD:0009157 ICD10:Q87.8 OMIM:300262 UMLS:C1846056 DOID:0060818 MESH:C535556 Orphanet:85273" +MONDO:0010285 "X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations." "GARD:0009157 OMIM:300262 UMLS:C1846056 DOID:0060818 ICD10CM:Q87.8 MESH:C535556 Orphanet:85273" GO:0050796 "Any process that modulates the frequency, rate or extent of the regulated release of insulin." -MONDO:0012254 "Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported." "ICD10:Q77.3 MESH:C563735 OMIM:609325 Orphanet:166032 UMLS:C1836307" +MONDO:0012254 "Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported." "MESH:C563735 OMIM:609325 Orphanet:166032 ICD10CM:Q77.3 UMLS:C1836307" UBERON:0006846 MONDO:0006824 "Carcinoma having known association to krebs2 gene mutation" "UMLS:C0007128 MESH:D002287 EFO:1001007" MONDO:0002019 @@ -34616,13 +34594,13 @@ MONDO:0005678 "A multifactorial disease of cattle resulting from complex interac SO:1000008 "A single nucleotide change which has occurred at the same position of a corresponding nucleotide in a reference sequence." MONDO:0013893 "Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene." "OMIM:614810" http://identifiers.org/hgnc/7744 -MONDO:0017672 "Orphanet:307837 ICD10:Q82.8" +MONDO:0017672 "Orphanet:307837 ICD10CM:Q82.8" MONDO:0014583 "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37." "OMIM:616321 Orphanet:590 UMLS:C4225372 Orphanet:98913 DOID:0110666" -MONDO:0001918 "ICD9:375.21 ICD10:H04.21 SCTID:31788005 DOID:14244 UMLS:C0155233" +MONDO:0001918 "ICD9:375.21 SCTID:31788005 DOID:14244 UMLS:C0155233" MONDO:0008958 "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene." "MESH:C536888 OMIM:214300 Orphanet:2345 UMLS:C1859209 DOID:0080590" CL:0002262 "An endothelial cell that lines any of the venous cavities through which blood passes in various glands and organs such as the spleen and liver." "FMA:63134" MONDO:0014612 "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene." "UMLS:C4225347 OMIM:616371 Orphanet:2032" -MONDO:0018617 "Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques." "GARD:0010664 Orphanet:443084 ICD10:G90.4 UMLS:CN237655" +MONDO:0018617 "Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques." "GARD:0010664 ICD10CM:G90.4 Orphanet:443084 UMLS:CN237655" MONDO:0003607 "A neuritis that involves the forelimb." "ICD9:354 DOID:572" MONDO:0004415 "NCIT:C39828 UMLS:C1512738 DOID:7967" NCBITaxon:1329799 "PMID:25450099 GC_ID:1 PMID:22839753" @@ -34632,30 +34610,30 @@ MONDO:0007175 "OMIM:108980 UMLS:C3152251" CL:0000034 "A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells." "FMA:63368 CALOHA:TS-2086" MONDO:0005650 "Virus diseases caused by the arenaviridae." "SCTID:3303004 EFO:0007150 DOID:3944 MESH:D001117 ICD9:078.89" http://identifiers.org/hgnc/8940 -MONDO:0001919 "ICD9:362.53 UMLS:C0154850 ICD10:H35.35 DOID:14245 SCTID:14046000" +MONDO:0001919 "ICD9:362.53 UMLS:C0154850 DOID:14245 SCTID:14046000" MONDO:0024321 "A disease that has its basis in the disruption of GPI anchor biosynthetic process." GO:2000727 "Any process that activates or increases the frequency, rate or extent of cardiac muscle cell differentiation." MONDO:0005612 http://identifiers.org/hgnc/2852 MONDO:0060720 "UMLS:CN248517 OMIMPS:618005" http://identifiers.org/hgnc/15508 -MONDO:0008872 "A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." "Orphanet:2637 DOID:0060609 OMIM:210720 MESH:C565898 ICD10:Q87.1 SCTID:254103003 GARD:0009844" -MONDO:0013275 "Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia." "Orphanet:712 UMLS:C3150730 UMLS:CN072763 ICD10:D55.2 GARD:0002502 OMIM:613470" +MONDO:0008872 "A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." "Orphanet:2637 DOID:0060609 OMIM:210720 MESH:C565898 SCTID:254103003 ICD10CM:Q87.1 GARD:0009844" +MONDO:0013275 "Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia." "Orphanet:712 UMLS:C3150730 ICD10CM:D55.2 UMLS:CN072763 GARD:0002502 OMIM:613470" MONDO:0012892 "A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features." "Orphanet:300284 UMLS:C2676285 OMIM:612394 MESH:C567320 SCTID:763318007" -MONDO:0019388 "PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported." "ICD10:Q87.8 Orphanet:83628 UMLS:CN206083 UMLS:C4510867 SCTID:725138002" -MONDO:0008171 "The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins." "UMLS:C0156257 SCTID:266556005 EFO:0004253 UMLS:C0392525 ICD10:N20.2 EFO:0003845 OMIM:605990 ICD9:592 ICD10:N20 DOID:585 NCIT:C114667 MESH:D053040" +MONDO:0019388 "PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported." "ICD10CM:Q87.8 Orphanet:83628 UMLS:CN206083 UMLS:C4510867 SCTID:725138002" +MONDO:0008171 "The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins." "UMLS:C0156257 SCTID:266556005 EFO:0004253 UMLS:C0392525 EFO:0003845 OMIM:605990 ICD9:592 DOID:585 NCIT:C114667 MESH:D053040" MONDO:0020225 "A cataract (disease) that is part of a larger syndrome." "Orphanet:98641 UMLS:CN227829" -MONDO:0016621 "Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age." "Orphanet:248111 UMLS:C0751208 ICD10:G10 OMIM:143100 NCIT:C147072 SCTID:230299004 GARD:0010510" +MONDO:0016621 "Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age." "Orphanet:248111 UMLS:C0751208 OMIM:143100 ICD10CM:G10 NCIT:C147072 SCTID:230299004 GARD:0010510" CL:2000012 "Any skin fibroblast that is part of a pedal digit skin." -MONDO:0006496 "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)" "EFO:1000631 Wikipedia:Palsy MESH:D010243" -MONDO:0017670 "ICD10:Q82.8 UMLS:CN229100 Orphanet:307773" +MONDO:0006496 "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)" "EFO:1000631 Wikipedia:Palsy MESH:D010243 ICD10CM:G80-G83" +MONDO:0017670 "UMLS:CN229100 ICD10CM:Q82.8 Orphanet:307773" ECTO:0000207 "An exposure to carbon monoxide." MONDO:0003746 "A spindle cell melanoma that involves the ciliary body." "NCIT:C6117 UMLS:C1333052 DOID:6043" GO:0001701 "The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus." -MONDO:0018883 "A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance." "MedDRA:10024603 ICD9:250.80 Orphanet:528 NCIT:C84594 OMIM:269700 OMIM:608594 OMIM:612526 ICD10:E88.1" +MONDO:0018883 "A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance." "MedDRA:10024603 ICD9:250.80 Orphanet:528 NCIT:C84594 OMIM:269700 OMIM:608594 OMIM:612526 ICD10CM:E88.1" MONDO:0008374 "OMIM:180020 Orphanet:1871 GARD:0003196 MESH:C566719" MONDO:0021155 "X-linked form of cone-rod dystrophy." "OMIM:304020" -MONDO:0015201 "An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993." "ICD10:Q87.8 UMLS:CN197555 Orphanet:1074" +MONDO:0015201 "An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993." "ICD10CM:Q87.8 UMLS:CN197555 Orphanet:1074" NCBITaxon:1643685 "PMID:23908650 GC_ID:11" HP:0002693 "An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components." "UMLS:C4025688" MONDO:0000719 @@ -34664,19 +34642,19 @@ UBERON:0010584 MONDO:0054845 "DOID:0080446 UMLS:CN252658 OMIM:618067" UBERON:0004448 GO:0016937 "Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a short branched chain fatty acid residue." -MONDO:0014011 "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene." "ICD10:Q80.2 DOID:0060719 OMIM:615024 UMLS:C3554355 Orphanet:79394" +MONDO:0014011 "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene." "DOID:0060719 OMIM:615024 UMLS:C3554355 Orphanet:79394" UBERON:0015481 MONDO:0000539 "A rhabdoid tumor that involves the striated muscle tissue." "DOID:0050924" HP:0002617 "Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart." "Fyler:2399 UMLS:C4020848 SNOMEDCT_US:85659009 UMLS:C0002940 SNOMEDCT_US:432119003 MSH:D000783" CHEBI:30742 "A 1,2-glycol compound produced via reaction of ethylene oxide with water." MONDO:0024552 "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene." "Orphanet:2556 OMIM:309801" -MONDO:0007570 "A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient." "ICD10:L59.8 Orphanet:231031 MESH:C565041 OMIM:133000 SCTID:763767006 UMLS:C1851502" +MONDO:0007570 "A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient." "ICD10CM:L59.8 Orphanet:231031 MESH:C565041 OMIM:133000 SCTID:763767006 UMLS:C1851502" http://identifiers.org/hgnc/6541 GO:0019239 "Catalysis of the removal of an amino group from a substrate, producing a substituted or nonsubstituted ammonia (NH3/NH2R)." MONDO:0003213 GO:1904058 "Any process that activates or increases the frequency, rate or extent of sensory perception of pain." http://identifiers.org/hgnc/20449 -MONDO:0008373 "HP:0001136 DOID:0111547 Orphanet:75326 OMIM:180000 ICD10:Q14.1" +MONDO:0008373 "ICD10CM:Q14.1 HP:0001136 DOID:0111547 Orphanet:75326 OMIM:180000" MONDO:0005356 "Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow." "ICD9:413.9 UMLS:C0010073 EFO:0004225 SCTID:23687008 MESH:D003329 DOID:11840 NCIT:C34515" MONDO:0054843 "OMIM:618063 UMLS:CN252651" MONDO:0000718 @@ -34687,42 +34665,42 @@ UBERON:0004449 MONDO:0003708 "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells." "DOID:5926 UMLS:C1335979 NCIT:C5845" MONDO:0024292 "A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps." "UMLS:C0744333 NCIT:C35516" MONDO:0020782 "Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth." "NCIT:C34474 ICD9:523.10 UMLS:C0008684 SCTID:72621003 ICD9:523.1" -MONDO:0009388 "Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present." "HP:0002161 ICD9:270.7 SCTID:58558003 ICD10:E72.3 NCIT:C123433 OMIM:238700 DOID:9274 Orphanet:2203 OMIM:238710 GARD:0002828 UMLS:C0268553" +MONDO:0009388 "Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present." "HP:0002161 ICD9:270.7 SCTID:58558003 ICD10CM:E72.3 NCIT:C123433 OMIM:238700 DOID:9274 Orphanet:2203 OMIM:238710 GARD:0002828 UMLS:C0268553" UBERON:0015482 MONDO:0002842 "Gastritis resulting from bacteria." "DOID:4033 SCTID:723096000 NCIT:C27340 UMLS:C0948039" GO:0007611 "The acquisition and processing of information and/or the storage and retrieval of this information over time." -MONDO:0002545 "A disease involving the spinal cord." "UMLS:C0037928 ICD9:336.9 DOID:319 ICD9:336.8 NCIT:C97110 SCTID:48522003 ICD10:G95.9 MESH:D013118" +MONDO:0002545 "A disease involving the spinal cord." "UMLS:C0037928 ICD9:336.9 DOID:319 ICD9:336.8 NCIT:C97110 SCTID:48522003 MESH:D013118" PATO:0002006 "A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity." MONDO:0007170 "OMIM:108760 Orphanet:141074 UMLS:C3276095" -MONDO:0001817 "Acute form of angle-closure glaucoma." "UMLS:C0154946 ICD9:365.22 DOID:13862 SCTID:30041005 ICD10:H40.21" +MONDO:0001817 "Acute form of angle-closure glaucoma." "UMLS:C0154946 ICD9:365.22 DOID:13862 SCTID:30041005" MONDO:0014758 "Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene." "OMIM:616738 UMLS:C4225221" UBERON:0005648 MONDO:0004104 "A hairy cell leukemia that involves the spleen." "SCTID:93151007 ICD9:202.47 UMLS:C1336064 DOID:709 NCIT:C7301" -MONDO:0015746 "Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent." "OMIM:613958 GARD:0012502 DOID:0111156 ICD10:N46 Orphanet:171709 OMIM:102530" +MONDO:0015746 "Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent." "OMIM:613958 ICD10CM:N46 GARD:0012502 DOID:0111156 Orphanet:171709 OMIM:102530" MONDO:0002369 "A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas." "NCIT:C2972 ICDO:8440/0 MESH:D003537 UMLS:C0010633 DOID:2634" MONDO:0008372 "OMIM:179900 Orphanet:65 UMLS:C1867331 MESH:C566720" MONDO:0021016 "A disease caused by disturbed function of ion channel subunits or the proteins that regulate them." "MESH:D053447 UMLS:C1720983" -MONDO:0008015 "A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting." "ICD9:994.6 ICD10:T75.3 MESH:D009041 UMLS:C0026603 OMIM:158280 EFO:0006928 NCIT:C34824 DOID:2951" +MONDO:0008015 "A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting." "ICD9:994.6 ICD10CM:T75.3 MESH:D009041 UMLS:C0026603 OMIM:158280 EFO:0006928 NCIT:C34824 DOID:2951" ECTO:9001347 "An exposure to sodium chloride." -MONDO:0017314 "Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS." "Orphanet:286 OMIM:130050 NCIT:C125699 SCTID:17025000 ICD10:Q79.6 GARD:0002082" +MONDO:0017314 "Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS." "Orphanet:286 OMIM:130050 NCIT:C125699 ICD10CM:Q79.6 SCTID:17025000 GARD:0002082" MONDO:0000717 UBERON:0010586 -MONDO:0009166 "Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." "UMLS:C1856974 OMIM:225753 MESH:C536716 ICD10:Q04.3 GARD:0000343 SCTID:718608006 Orphanet:166063 DOID:0060273" +MONDO:0009166 "Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." "UMLS:C1856974 OMIM:225753 MESH:C536716 GARD:0000343 SCTID:718608006 ICD10CM:Q04.3 Orphanet:166063 DOID:0060273" MONDO:0054847 "DOID:0111694 OMIM:618075 UMLS:CN252654" PATO:0002005 "Surface shape that refers to the inward or outward curvature of the surface." http://identifiers.org/hgnc/2858 -MONDO:0008891 "A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." "OMIM:211530 OMIMPS:211530 SCTID:699866005 DOID:0050694 GARD:0009993 Orphanet:97229 OMIM:211500 ICD10:G12.1 OMIM:614707 MESH:C537111" +MONDO:0008891 "A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." "OMIM:211530 OMIMPS:211530 SCTID:699866005 DOID:0050694 GARD:0009993 Orphanet:97229 OMIM:211500 OMIM:614707 MESH:C537111 ICD10CM:G12.1" HP:0001889 "Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts)." "UMLS:C0002888 SNOMEDCT_US:53165003 MSH:D000749" MONDO:0005114 "Infections with bacteria of the species streptococcus pneumoniae." "SCTID:16814004 UMLS:C0032269 ICD9:041.2 EFO:0000772 MESH:D011008" GO:0019842 "Binding to a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body." -MONDO:0014033 "Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia." "Orphanet:329466 DOID:0090055 OMIM:615073 ICD10:G24.1 UMLS:C3554447" +MONDO:0014033 "Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia." "Orphanet:329466 DOID:0090055 OMIM:615073 ICD10CM:G24.1 UMLS:C3554447" GO:1902624 "Any process that activates or increases the frequency, rate or extent of neutrophil migration." -MONDO:0009473 "Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy." "MESH:C535542 ICD10:Q87.8 SCTID:722006004 Orphanet:2306 GARD:0009675 OMIM:243440" -MONDO:0001915 "ICD9:376.81 ICD10:H05.81 DOID:14233 UMLS:C0155285 SCTID:31021007 HP:0001144" +MONDO:0009473 "Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy." "MESH:C535542 SCTID:722006004 Orphanet:2306 GARD:0009675 OMIM:243440 ICD10CM:Q87.8" +MONDO:0001915 "ICD9:376.81 DOID:14233 UMLS:C0155285 SCTID:31021007 HP:0001144" CL:1000285 "A smooth muscle cell that is part of the sigmoid colon." "FMA:17521" UBERON:0006849 MONDO:0024565 "Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene." "Orphanet:247820 UMLS:C3150807 OMIM:613573" -MONDO:0014465 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene." "DOID:0110624 ICD10:Q34.8 OMIM:616037 Orphanet:244 UMLS:C4015016" +MONDO:0014465 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene." "DOID:0110624 OMIM:616037 Orphanet:244 UMLS:C4015016" UBERON:0010321 MONDO:0004676 CL:0000790 "An alpha-beta T cell that has an immature phenotype and has not completed T cell selection." @@ -34735,28 +34713,28 @@ UBERON:0003247 MONDO:0013712 "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene." "Orphanet:264675 OMIM:614370 UMLS:C3280574" MONDO:0009576 "SCTID:268158009 OMIM:249300 Orphanet:91489 HP:0007660 MESH:C562829 OMIM:309300 DOID:0060305 HP:0000485" MONDO:0018611 "OMIM:613763 UMLS:CN237647 Orphanet:441452" -MONDO:0018877 "Orphanet:52427 UMLS:CN205224 SCTID:715562001 OMIM:136880 ICD10:H35.5" -MONDO:0043543 "Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment." "UMLS:C0020732 SCTID:12456005 ICD9:799.9 MESH:D007049" +MONDO:0018877 "Orphanet:52427 UMLS:CN205224 SCTID:715562001 ICD10CM:H35.5 OMIM:136880" +MONDO:0043543 "Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment." "UMLS:C0020732 SCTID:12456005 ICD9:799.9 ICD10CM:T80-T88 MESH:D007049" CL:0011005 "An interneuron that uses GABA as a vesicular neurotransmitter. These interneurons are inhibitory" CHEBI:33695 -MONDO:0004933 "Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis." "OMIMPS:241550 NCIT:C98894 ICD9:746.7 DOID:9955 OMIM:241550 MESH:D018636 Orphanet:2248 ICD10:Q23.4 SCTID:62067003 GARD:0006739 MedDRA:10021076 UMLS:C0152101 OMIM:614435" +MONDO:0004933 "Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis." "OMIMPS:241550 NCIT:C98894 ICD9:746.7 DOID:9955 OMIM:241550 MESH:D018636 Orphanet:2248 ICD10CM:Q23.4 SCTID:62067003 GARD:0006739 MedDRA:10021076 UMLS:C0152101 OMIM:614435" MONDO:0016278 "OBSOLETE. Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported." MONDO:0024492 "A morphologic qualifier indicating that a cancerous lesion is moderately differentiated." "EFO:0005746 NCIT:C28078" MONDO:0054849 "OMIM:618077" -MONDO:0014102 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene." "Orphanet:478 OMIM:615266 UMLS:C3808971 DOID:0090079 ICD10:E23.0" +MONDO:0014102 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene." "Orphanet:478 OMIM:615266 UMLS:C3808971 DOID:0090079" UBERON:0004444 UBERON:0002049 MONDO:0008112 -MONDO:0012557 "Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter." "OMIM:610773 SCTID:718713000 UMLS:C1835845 MESH:C563665 Orphanet:91130 UMLS:C4305259 ICD10:G71.3" +MONDO:0012557 "Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter." "OMIM:610773 SCTID:718713000 UMLS:C1835845 ICD10CM:G71.3 MESH:C563665 Orphanet:91130 UMLS:C4305259" MONDO:0017679 -MONDO:0017413 "EFO:0002319 Orphanet:294049 ICD10:Q74.8 UMLS:CN203163" +MONDO:0017413 "ICD10CM:Q74.8 Orphanet:294049 EFO:0002319 UMLS:CN203163" HP:0002071 "A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless)." "UMLS:C0234133 MSH:D001480 SNOMEDCT_US:43378000 UMLS:C0015371 SNOMEDCT_US:76349003" GO:0016651 "Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor." MONDO:0021528 "A non-metastasizing neoplasm that arises from the breast parenchyma in males." "NCIT:C4620 SCTID:92206006 UMLS:C0347482" MONDO:0006818 UBERON:0003246 MONDO:0014919 "OMIM:617108 UMLS:C4310714" -MONDO:0014258 "UMLS:C3809971 ICD10:E72.8 Orphanet:391376 OMIM:615574" +MONDO:0014258 "UMLS:C3809971 Orphanet:391376 OMIM:615574 ICD10CM:E72.8" MONDO:0018900 "Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders." "SCTID:720751000 UMLS:CN205271 Orphanet:54251 GARD:0010946" NCBITaxon:5722 "GC_ID:1" GO:0019226 "The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission." @@ -34767,17 +34745,17 @@ UBERON:0004445 UBERON:0010323 UBERON:0002048 http://identifiers.org/hgnc/21642 -MONDO:0008918 "Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." "OMIM:212138 MESH:C562812 SCTID:238003000 DOID:0111585 GARD:0001123 Orphanet:159 NCIT:C133086 ICD10:E71.3 UMLS:C0342791" -MONDO:0012979 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene." "UMLS:C2675228 MESH:C567211 DOID:0110601 OMIM:612650 ICD10:Q34.8" +MONDO:0008918 "Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." "OMIM:212138 ICD10CM:E71.3 MESH:C562812 SCTID:238003000 DOID:0111585 GARD:0001123 Orphanet:159 NCIT:C133086 UMLS:C0342791" +MONDO:0012979 "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene." "UMLS:C2675228 MESH:C567211 DOID:0110601 OMIM:612650" MONDO:0014099 "Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene." "OMIM:615244 UMLS:C3808953 Orphanet:656 DOID:0080389" http://identifiers.org/hgnc/20444 MONDO:0023558 "MESH:C537211 GARD:0008270" MONDO:0006819 -MONDO:0013843 "Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene." "OMIM:614665 SCTID:733447005 ICD9:777.1 ICD10:P76.0 Orphanet:314376" +MONDO:0013843 "Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene." "OMIM:614665 SCTID:733447005 ICD9:777.1 ICD10CM:P76.0 Orphanet:314376" MONDO:0060729 "UMLS:CN248523 OMIM:618015" MONDO:0014918 "OMIM:617107 UMLS:C4310715 Orphanet:500095" -MONDO:0012911 "Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha)." "Orphanet:79444 GARD:0010681 UMLS:C2932716 SCTID:717792007 OMIM:612462 ICD10:E20.1 MESH:C548076" -MONDO:0006665 "Atrophic gastritis that is persistent and long-standing." "ICD9:535.10 DOID:8929 SCTID:84568007 MedDRA:10003685 EFO:1000826 NCIT:C7405 ICD9:535.11 ICD10:K29.4 ICD9:535.1 MESH:D005757" +MONDO:0012911 "Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha)." "Orphanet:79444 GARD:0010681 ICD10CM:E20.1 UMLS:C2932716 SCTID:717792007 OMIM:612462 MESH:C548076" +MONDO:0006665 "Atrophic gastritis that is persistent and long-standing." "ICD9:535.10 DOID:8929 SCTID:84568007 MedDRA:10003685 EFO:1000826 NCIT:C7405 ICD9:535.11 ICD9:535.1 MESH:D005757 ICD10CM:K29.4" http://identifiers.org/hgnc/17063 MONDO:0009574 "MESH:C565408 OMIM:249240 UMLS:C1855309" UBERON:0003249 @@ -34790,25 +34768,25 @@ UBERON:0004446 GO:1904098 "Any process that modulates the frequency, rate or extent of protein O-linked glycosylation." http://identifiers.org/hgnc/21645 MONDO:0015016 "UMLS:C4310623 DOID:0080611 OMIM:617315" -MONDO:0019754 "Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein." "OMIM:148000 GARD:9644 url:https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease UMLS:C1334815 NCIT:C27855 GARD:0009644 ICD10:D36.0 DOID:0111152 Orphanet:93686" +MONDO:0019754 "Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein." "OMIM:148000 GARD:9644 UMLS:C1334815 NCIT:C27855 ICD10CM:D36.0 GARD:0009644 DOID:0111152 Orphanet:93686" MONDO:0008376 "OMIM:180080" MONDO:0030898 "OMIM:619164" -MONDO:0017677 "SCTID:400115004 ICD10:Q82.8 Orphanet:308013 UMLS:C1302839" +MONDO:0017677 "ICD10CM:Q82.8 SCTID:400115004 Orphanet:308013 UMLS:C1302839" MONDO:0008562 "Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988." "Orphanet:2251 OMIM:188150 UMLS:C2931366 MESH:C566054 GARD:0005199" CHEBI:38869 "Substance that produces loss of consciousness." NCBITaxon:197912 "GC_ID:1" -MONDO:0010417 "Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." "Orphanet:163937 OMIM:300749 MESH:C567466 UMLS:C2677903 GARD:0012669 ICD10:Q04.3 DOID:0060807" +MONDO:0010417 "Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." "Orphanet:163937 OMIM:300749 MESH:C567466 UMLS:C2677903 ICD10CM:Q04.3 GARD:0012669 DOID:0060807" MONDO:0010613 "An acquired metabolic disease that is has its basis in the disruption of glycerol kinase activity." "SCTID:124322002 Orphanet:408 Orphanet:308993 DOID:0060363 OMIM:307030" CHR:9606-chr5p -MONDO:0016479 "UMLS:CN201474 ICD10:Q87.1 Orphanet:231137" -MONDO:0018610 "ICD10:H26.0 Orphanet:441447 UMLS:CN237646" +MONDO:0016479 "UMLS:CN201474 ICD10CM:Q87.1 Orphanet:231137" +MONDO:0018610 "Orphanet:441447 ICD10CM:H26.0 UMLS:CN237646" UBERON:0003248 MONDO:0009594 "Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982." "Orphanet:166038 MESH:C565400 OMIM:250230 UMLS:C1855217" MONDO:0002744 "An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas." "DOID:3704 UMLS:C1517119 NCIT:C40103" -MONDO:0016715 "Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis." "SCTID:715901002 ONCOTREE:ETANTR ICD10:C71.9 NCIT:C4915 DOID:0080903 UMLS:C0700367 Orphanet:251880 DOID:4794 MedDRA:10014966 GARD:0006352" +MONDO:0016715 "Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis." "SCTID:715901002 ONCOTREE:ETANTR NCIT:C4915 DOID:0080903 UMLS:C0700367 Orphanet:251880 DOID:4794 MedDRA:10014966 ICD10CM:C71.9 GARD:0006352" GO:0030545 "Binds to and modulates the activity of a receptor." http://identifiers.org/hgnc/15766 -MONDO:0007249 "Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." "ICD10:Q74.8 OMIM:114150 Orphanet:1319 GARD:0001062 MESH:C537967 SCTID:733045005" +MONDO:0007249 "Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972." "OMIM:114150 Orphanet:1319 GARD:0001062 MESH:C537967 SCTID:733045005 ICD10CM:Q74.8" MONDO:0022357 "ICD9:759.89 SCTID:205834002 GARD:0009823" MONDO:0013528 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene." "UMLS:C3151462 OMIM:614020" MONDO:0030899 "Orphanet:597733 OMIM:619165" @@ -34816,79 +34794,78 @@ MONDO:0003524 "A well differentiated neuroendocrine tumor that arises from the s ENVO:01001618 "A material accumulation process during which ice forms in an environmental material or an existing accumulation of ice increases in mass." UBERON:0004447 MONDO:0009573 "OMIM:249230 GARD:0003444" -MONDO:0017412 "ICD10:Q92.3 UMLS:CN203162 Orphanet:294026" +MONDO:0017412 HP:0025423 "Any anomaly of the structure of the larynx." NCBITaxon:197911 "GC_ID:1" CHR:9606-chr5q GO:0032414 "Any process that activates or increases the activity of an ion transporter." MONDO:0006542 "OBSOLETE. A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes." -MONDO:0006615 "A disease involving the sweat gland." "EFO:1000772 ICD10:L74.9 UMLS:C0038986 DOID:1383 ICD9:705.9 MESH:D013543 ICD10:L74 ICD9:705 ICD9:705.89 SCTID:88232005" +MONDO:0006615 "A disease involving the sweat gland." "EFO:1000772 UMLS:C0038986 DOID:1383 ICD9:705.9 MESH:D013543 ICD9:705 ICD9:705.89 SCTID:88232005" MONDO:0003603 "A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome." "SCTID:448563005 NCIT:C4009" MONDO:0030895 "OMIM:619155" MONDO:0013345 "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene." "OMIM:613657 DOID:0111352 Orphanet:79315 UMLS:C3150909" -MONDO:0016478 "Orphanet:231130 ICD10:Q87.3 UMLS:CN201473" +MONDO:0016478 "Orphanet:231130 ICD10CM:Q87.3 UMLS:CN201473" MONDO:0016212 MONDO:0002518 "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present." "DOID:3120 UMLS:C1333754 NCIT:C7130" -MONDO:0013929 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene." "DOID:0110540 UMLS:C3553932 OMIM:614861 ICD10:H90.3" +MONDO:0013929 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene." "DOID:0110540 UMLS:C3553932 OMIM:614861" http://identifiers.org/hgnc/16700 MONDO:0004417 "DOID:7969 NCIT:C39819 UMLS:C1512741" MONDO:0003849 "A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells." "SCTID:446939001 NCIT:C5412 ICD9:170.0 DOID:6312 UMLS:C1333071" UBERON:0006843 -MONDO:0016673 "Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails." "GARD:0012923 ICD10:Q81.8 OMIM:226650 UMLS:CN201914 Orphanet:251393" +MONDO:0016673 "Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails." "GARD:0012923 OMIM:226650 UMLS:CN201914 ICD10CM:Q81.8 Orphanet:251393" GO:0061534 "The regulated release of gamma-aminobutyric acid by a cell, in which the gamma-aminobutyric acid acts as a neurotransmitter." CHEBI:30099 -MONDO:0006359 "A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." "MESH:D054973 ICD10:D21.9 Orphanet:595133 ONCOTREE:PECOMA UMLS:C1300127 EFO:1000464 DOID:2643 NCIT:C38150" +MONDO:0006359 "A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis." "MESH:D054973 Orphanet:595133 ONCOTREE:PECOMA ICD10CM:D21.9 UMLS:C1300127 EFO:1000464 DOID:2643 NCIT:C38150" MONDO:0015014 "OMIM:617306 UMLS:C4310625" -MONDO:0011159 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." "MESH:C566612 OMIM:601868 UMLS:C1866095 DOID:0110545 ICD10:H90.3" +MONDO:0011159 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." "MESH:C566612 OMIM:601868 UMLS:C1866095 DOID:0110545" MONDO:0009314 http://identifiers.org/hgnc/16966 MONDO:0700016 "Chromosomal disorder in which chromosome 9 is affected." -MONDO:0019272 "An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome." "Orphanet:79357 ICD10:Q82.8 SCTID:239066003 ICD9:757.39" +MONDO:0019272 "An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome." "Orphanet:79357 ICD10CM:Q82.8 SCTID:239066003 ICD9:757.39" MONDO:0002921 "A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills." "MESH:D020914 DOID:422 NCIT:C84648 UMLS:C0752282" MONDO:0014915 "OMIM:617102 UMLS:C4310718" MONDO:0007178 "MESH:C566235 OMIM:109050 Orphanet:1219 GARD:0009218 UMLS:C1862380" MONDO:0030896 "OMIM:619148" -MONDO:0016211 "ICD10:C67.6 ICD10:C67.2 ICD10:C67.7 ICD10:C67.4 ICD10:C67.3 ICD10:C67.0 UMLS:CN200968 ICD10:C67.5 Orphanet:209989 ICD10:C67.1 ICD10:C67.8 ICD10:C67.9" -MONDO:0016477 "UMLS:CN201472 ICD10:Q87.3 Orphanet:231127" +MONDO:0016211 "ICD10CM:C67.9 ICD10CM:C67.1 ICD10CM:C67.6 ICD10CM:C67.7 UMLS:CN200968 Orphanet:209989 ICD10CM:C67.0 ICD10CM:C67.4 ICD10CM:C67.5 ICD10CM:C67.2 ICD10CM:C67.3 ICD10CM:C67.8" +MONDO:0016477 "UMLS:CN201472 ICD10CM:Q87.3 Orphanet:231127" MONDO:0060722 UBERON:0010328 http://identifiers.org/hgnc/9045 MONDO:0020696 "A disease characterized by low serum levels of vitamin B12, either inherited or acquired." "NCIT:C131684 SCTID:190634004 HP:0100502 MESH:D014806 ICD9:266.2 UMLS:C0042847" -MONDO:0017947 "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." "ICD10:E85.4+ ICD10:I68.0* Orphanet:324713 OMIM:605714" +MONDO:0017947 "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." "ICD10EXP:I68.0* ICD10EXP:E85.4+ Orphanet:324713 OMIM:605714" MONDO:0004416 "NCIT:C39823 UMLS:C1512742 ONCOTREE:SRCBC DOID:7968" MONDO:0004172 "A adenocarcinofibroma that involves the body of uterus." "DOID:7281" MONDO:0014359 "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene." "OMIM:615830 UMLS:C4014425" MONDO:0030897 "OMIM:619149" -MONDO:0017676 "ICD10:Q82.8 Orphanet:307995" -MONDO:0016776 "Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp." "SCTID:717055000 UMLS:C4255374 GARD:0010886 Orphanet:254492 ICD10:L66.1" +MONDO:0017676 "ICD10CM:Q82.8 Orphanet:307995" +MONDO:0016776 "Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp." "SCTID:717055000 ICD10CM:L66.1 UMLS:C4255374 GARD:0010886 Orphanet:254492" MONDO:0005857 "Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions." "MESH:D018185 UMLS:C0206614 EFO:0007377" NCBITaxon:197913 "GC_ID:1" -MONDO:0015279 "OMIM:607644 DOID:2058 MedDRA:10009007 UMLS:C0006845 Orphanet:1334 SCTID:234568006 OMIM:212050 ICD10:B37.2 OMIM:114580 OMIM:247650 OMIM:616445 OMIMPS:114580 OMIM:613956 OMIM:252250 OMIM:613953 OMIM:613108 OMIM:615527 NCIT:C34444 HP:0002728 MESH:D002178 OMIM:614162" +MONDO:0015279 "OMIM:607644 DOID:2058 MedDRA:10009007 UMLS:C0006845 Orphanet:1334 SCTID:234568006 OMIM:212050 ICD10CM:B37.2 OMIM:114580 OMIM:247650 OMIM:616445 OMIMPS:114580 OMIM:613956 OMIM:252250 OMIM:613953 OMIM:613108 OMIM:615527 NCIT:C34444 HP:0002728 MESH:D002178 OMIM:614162" http://identifiers.org/hgnc/14304 HP:0100533 "Inflammation of the eye, parts of the eye or the periorbital region." "UMLS:C4020969" -MONDO:0018870 "Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries." "OMIM:614473 OMIM:208000 GARD:0008380 OMIMPS:208000 Orphanet:51608 MESH:C537440 ICD10:Q28.8 DOID:0050644" +MONDO:0018870 "Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries." "OMIM:614473 OMIM:208000 GARD:0008380 ICD10CM:Q28.8 OMIMPS:208000 Orphanet:51608 MESH:C537440 DOID:0050644" CHEBI:51061 "A drug that modulates the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites." CHEBI:33693 UBERON:0001949 -MONDO:0008799 "Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." "GARD:0001443 ICD9:758.5 OMIM:206900 SCTID:698851003 ICD10:Q87.8 Orphanet:77298" +MONDO:0008799 "Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." "GARD:0001443 ICD9:758.5 OMIM:206900 SCTID:698851003 ICD10CM:Q87.8 Orphanet:77298" MONDO:0002149 "A malignant neoplasm involving the reproductive organ" "DOID:193 UMLS:C0178830 NCIT:C36076 UMLS:C1334618 NCIT:C3674" -MONDO:0016476 "OMIM:130650 UMLS:CN201471 ICD10:Q87.3 Orphanet:231120" +MONDO:0016476 "OMIM:130650 UMLS:CN201471 ICD10CM:Q87.3 Orphanet:231120" MONDO:0023147 "A syndrome caused by HPIV-3." "GARD:0002309" MONDO:0030893 "OMIM:619147" UBERON:0010329 MONDO:0016210 "Orphanet:209978 SCTID:404689008" GO:0050804 "Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission." -MONDO:0021839 "Infections with bacteria of the order SPIROCHAETALES." "MESH:D013145 GARD:0007682 UMLS:C0037974" +MONDO:0021839 "Infections with bacteria of the order SPIROCHAETALES." "GARD:0007682 ICD10CM:A65-A69 UMLS:C0037974 MESH:D013145" http://identifiers.org/hgnc/15505 -MONDO:0018543 "Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." "OMIM:615361 Orphanet:428 OMIMPS:601198 UMLS:CN205077 DOID:0090109 OMIM:601198 SCTID:711152006 GARD:0002877 ICD10:E20.8" +MONDO:0018543 "Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." "OMIM:615361 Orphanet:428 OMIMPS:601198 UMLS:CN205077 ICD10CM:E20.8 DOID:0090109 OMIM:601198 SCTID:711152006 GARD:0002877" http://identifiers.org/hgnc/8943 MONDO:0000611 "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer." "DOID:0060071" OBI:0002076 "A material entity that has two or more specimens as its parts."@en MONDO:0004419 "UMLS:C1512739 NCIT:C39822 DOID:7972" http://identifiers.org/hgnc/21641 UBERON:0002047 -MONDO:0016698 "A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)" "MedDRA:10014967 UMLS:CN201941 UMLS:C0014474 NCIT:C3017 MESH:D004806 ICD10:D43.2 ONCOTREE:EPM ICDO:9391/3 GARD:0006353 Orphanet:251636 DOID:4844" -MONDO:0014913 +MONDO:0016698 "A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)" "MedDRA:10014967 UMLS:CN201941 UMLS:C0014474 NCIT:C3017 MESH:D004806 ONCOTREE:EPM ICDO:9391/3 GARD:0006353 Orphanet:251636 ICD10CM:D43.2 DOID:4844" MONDO:0015012 "Orphanet:505248 UMLS:C4310627 OMIM:617303" NCBITaxon:29960 "GC_ID:1" NCBITaxon:2129 "PMID:1906731 GC_ID:4 PMID:11034506 PMID:2223597 PMID:8782697" @@ -34896,11 +34873,11 @@ http://identifiers.org/hgnc/7745 MONDO:0008109 "Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system." "Orphanet:46486 NCIT:C84939 EFO:0008610 OMIM:164185 SCTID:314757003 GARD:0008759 UMLS:C1282359" UBERON:0003244 MONDO:0003088 "A hemangioma arising from skeletal muscle." "DOID:468 MESH:D006391 NCIT:C3699 ICDO:9132/0 UMLS:C0205789" -MONDO:0011261 "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder." "OMIM:602611 ICD10:Q77.7 MESH:C566515 SCTID:718766002 Orphanet:163649" +MONDO:0011261 "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder." "ICD10CM:Q77.7 OMIM:602611 MESH:C566515 SCTID:718766002 Orphanet:163649" UBERON:0001948 MONDO:0002802 "Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category." "MESH:D003109 UMLS:C0009374 DOID:3877" GO:0097060 "A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell." -MONDO:0016475 "UMLS:CN201470 Orphanet:231117 ICD10:Q87.3" +MONDO:0016475 "UMLS:CN201470 ICD10CM:Q87.3 Orphanet:231117" MONDO:8000004 "Discitis caused by infection with Salmonella." MONDO:0030894 "OMIM:619151" http://identifiers.org/hgnc/30022 @@ -34909,16 +34886,16 @@ MONDO:0060724 "OMIM:618010 UMLS:CN248527" http://identifiers.org/hgnc/6547 UBERON:0002046 MONDO:0004418 "NCIT:C39820 DOID:7971 UMLS:C1512740" -MONDO:0008516 "Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." "Orphanet:93406 SCTID:719159004 ICD10:Q70.2 GARD:0005089 OMIM:186300 MESH:C538155 ICD10:Q70.0" +MONDO:0008516 "Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." "Orphanet:93406 SCTID:719159004 GARD:0005089 OMIM:186300 MESH:C538155" UBERON:0004443 -MONDO:0018064 "Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait." "Orphanet:3365 ICD10:Q87.0 GARD:0002756 SCTID:719949001" +MONDO:0018064 "Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait." "ICD10CM:Q87.0 Orphanet:3365 GARD:0002756 SCTID:719949001" MONDO:0009311 "UMLS:C1856244 OMIM:233800 MESH:C565530" MONDO:0014912 "SCTID:765435009 OMIM:617099 UMLS:C4310614 DOID:0080163 Orphanet:500062 GARD:0013198" http://identifiers.org/hgnc/17068 GO:0046850 "Any process that modulates the frequency, rate or extent of bone remodeling, the processes of bone formation and resorption that combine to maintain skeletal integrity." -MONDO:0016541 "An instance of secondary polycythemia that is acquired during the lifetime of the individual." "Orphanet:238547 UMLS:C1318533 ICD10:D75.1" -MONDO:0012747 "Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported." "SCTID:111578003 MESH:C562718 GARD:0000600 ICD9:282.3 OMIM:611881 Orphanet:57 ICD10:E74.0 UMLS:C0272066" -MONDO:0019130 "A syndrome characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy." "UMLS:CN205654 Orphanet:73224 ICD10:N25.8" +MONDO:0016541 "An instance of secondary polycythemia that is acquired during the lifetime of the individual." "Orphanet:238547 UMLS:C1318533 ICD10CM:D75.1" +MONDO:0012747 "Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported." "SCTID:111578003 MESH:C562718 GARD:0000600 ICD9:282.3 ICD10CM:E74.0 OMIM:611881 Orphanet:57 UMLS:C0272066" +MONDO:0019130 "A syndrome characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy." "UMLS:CN205654 Orphanet:73224 ICD10CM:N25.8" http://identifiers.org/hgnc/19440 SO:0000401 "An attribute describing a gene." MONDO:0004653 "A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)" "NCIT:C3519 ICDO:9876/3 DOID:8747 SCTID:277589003" @@ -34928,25 +34905,25 @@ http://identifiers.org/hgnc/11824 MONDO:0003173 "An astrocytoma that arises from the brain stem." "NCIT:C7445 DOID:4860 UMLS:C1332608 SCTID:107581000119103" MONDO:0043576 "Inflammation of the arterial intima." "MESH:D004692 EFO:0009084 UMLS:C0014100 SCTID:33806008 NCIT:C34581" http://identifiers.org/hgnc/28927 -MONDO:0011735 "A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells." "Orphanet:183663 ICD10:D80.5 Orphanet:101090 GARD:0010579 OMIM:606843 DOID:0060023" -MONDO:0017874 "Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations." "SCTID:58868000 Orphanet:319223 ICD10:A96.0 UMLS:C0019097 DOID:0050194" +MONDO:0011735 "A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells." "Orphanet:183663 ICD10CM:D80.5 Orphanet:101090 GARD:0010579 OMIM:606843 DOID:0060023" +MONDO:0017874 "Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations." "SCTID:58868000 Orphanet:319223 UMLS:C0019097 DOID:0050194" http://identifiers.org/hgnc/10627 MONDO:0011513 "UMLS:C1857933 Orphanet:1020 MESH:C565728 OMIM:605055" -MONDO:0008457 "Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." "DOID:0050956 NCIT:C142838 OMIM:183086 ICD10:G11.2 Orphanet:98758 GARD:0010351 SCTID:715752006 UMLS:C0752124" +MONDO:0008457 "Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." "DOID:0050956 NCIT:C142838 OMIM:183086 ICD10CM:G11.2 Orphanet:98758 GARD:0010351 SCTID:715752006 UMLS:C0752124" MONDO:0000730 FOODON:03420310 -MONDO:0004774 "An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae." "SCTID:9091006 DOID:9384 ICD10:A54.32 UMLS:C0153212 ICD9:098.41" +MONDO:0004774 "An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae." "SCTID:9091006 ICD10CM:A54.32 DOID:9384 UMLS:C0153212 ICD9:098.41" http://identifiers.org/hgnc/801 http://identifiers.org/hgnc/14583 -MONDO:0017379 "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971." "UMLS:CN203094 GARD:0004424 Orphanet:2928 ICD10:Q87.8" +MONDO:0017379 "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971." "UMLS:CN203094 ICD10CM:Q87.8 GARD:0004424 Orphanet:2928" GO:0007272 "The process in which glial cells envelop neuronal cell bodies and/or axons to form an insulating layer. This can take the form of myelinating or non-myelinating ensheathment." MONDO:0022435 "A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features." "GTR:AN0543890 SCTID:80660001 NCIT:C130997 ICD9:258.1 UMLS:C0221005 GTR:AN0543843" -MONDO:0011458 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene." "ICD10:H35.5 DOID:0110332 UMLS:C1858386 OMIM:604393 Orphanet:1872 MESH:C565778 Orphanet:791 Orphanet:65 GARD:0009662" +MONDO:0011458 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene." "DOID:0110332 UMLS:C1858386 OMIM:604393 Orphanet:1872 MESH:C565778 Orphanet:791 Orphanet:65 GARD:0009662" MONDO:0012710 "Orphanet:388 OMIM:611644" GO:0045836 "Any process that activates or increases the frequency, rate or extent of meiosis." MONDO:0013075 "Orphanet:1930 OMIM:613002" MONDO:0100205 "A disease caused by infection with parainfluenza virus type 4." "OMOP:4288743" -MONDO:0001029 "A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy." "ICD9:756.16 OMIM:118100 GARD:0010280 Orphanet:2345 NCIT:C98967 DOID:10426 OMIM:613702 OMIM:214300 SCTID:5601008 ICD10:Q76.1 OMIMPS:118100 MESH:D007714" +MONDO:0001029 "A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy." "ICD9:756.16 OMIM:118100 GARD:0010280 Orphanet:2345 NCIT:C98967 DOID:10426 OMIM:613702 OMIM:214300 SCTID:5601008 OMIMPS:118100 ICD10CM:Q76.1 MESH:D007714" MONDO:0002292 http://identifiers.org/hgnc/11825 MONDO:0021220 "A neoplasm (disease) that involves the eye." "NCIT:C3030 ONCOTREE:EYE" @@ -34955,29 +34932,29 @@ MONDO:0002244 "A coagulation disorder characterized by the partial or complete a http://identifiers.org/hgnc/13387 MONDO:0001083 "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients." "MESH:D005198 GARD:0009120 DOID:1062 UMLS:C0015624 Orphanet:3337 SCTID:40488004 NCIT:C3034" MONDO:0014274 "Orphanet:440731 OMIM:615604 UMLS:C3810090" -MONDO:0001094 "UMLS:C0154944 SCTID:66990007 DOID:1066 ICD10:H40.15 ICD9:365.15" +MONDO:0001094 "UMLS:C0154944 SCTID:66990007 DOID:1066 ICD9:365.15" MONDO:0003491 MONDO:0000757 "An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption." "DOID:0060343" -MONDO:0005836 "A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma." "SCTID:363515000 NCIT:C8561 DOID:3856 EFO:0007355 ICD9:187.8 MESH:D005834 ICD10:C63.9 NCIT:C3054 ICD9:187.9 SCTID:126895004 ICD10:C60-C63" -MONDO:0017177 "Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated." "UMLS:CN202613 ICD10:Q87.3 Orphanet:276280" +MONDO:0005836 "A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma." "SCTID:363515000 NCIT:C8561 DOID:3856 EFO:0007355 ICD9:187.8 MESH:D005834 NCIT:C3054 ICD9:187.9 SCTID:126895004" +MONDO:0017177 "Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated." "UMLS:CN202613 Orphanet:276280 ICD10CM:Q87.3" MONDO:0011779 "MESH:C564620 UMLS:C1846721 OMIM:607132" http://identifiers.org/hgnc/800 MONDO:0021141 "Orphanet:409941" -MONDO:0017389 "Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." "ICD10:E70.1 Orphanet:293284" +MONDO:0017389 "Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." "Orphanet:293284 ICD10CM:E70.1" MONDO:0011202 "RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia." "UMLS:C1865794 SCTID:723999009 GARD:0009681 Orphanet:140976 OMIM:602152 MESH:C537612" MONDO:0012711 "OMIM:611650 MESH:C566898 UMLS:C1968838" UBERON:0002040 MONDO:0010314 "SCTID:438583008 Orphanet:268940 OMIM:300388 Orphanet:98889" MONDO:0013076 "OMIM:613003" -MONDO:0010831 "Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies." "Orphanet:3169 ICD10:Q87.8 NCIT:C99054 UMLS:C0037205 GARD:0000215 UMLS:C1838568 Orphanet:3027 GARD:0004751 SCTID:722493007 OMIM:600145 Orphanet:1768" +MONDO:0010831 "Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies." "Orphanet:3169 NCIT:C99054 UMLS:C0037205 GARD:0000215 UMLS:C1838568 Orphanet:3027 GARD:0004751 SCTID:722493007 OMIM:600145 Orphanet:1768 ICD10CM:Q87.8" GO:0150075 "Any process that stops, prevents or reduces the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity." http://identifiers.org/hgnc/11822 MONDO:0018859 -MONDO:0016022 "Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern." "DOID:308 SCTID:44423001 GARD:0007142 UMLS:C0014550 OMIM:609304 OMIM:616341 ICD10:G40.4 UMLS:C0270855 EFO:1001900 OMIM:617105 NCIT:C116593 Orphanet:1935" +MONDO:0016022 "Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern." "DOID:308 SCTID:44423001 GARD:0007142 UMLS:C0014550 OMIM:609304 OMIM:616341 UMLS:C0270855 EFO:1001900 OMIM:617105 NCIT:C116593 Orphanet:1935" CHEBI:59740 "A reagent that forms a bond to its reaction partner (the electrophile) by donating both bonding electrons." GO:2000252 "Any process that stops, prevents or reduces the frequency, rate or extent of feeding behavior." MONDO:0003573 "A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism." "UMLS:C0334233 DOID:5662 NCIT:C4094 ICDO:8022/3" -MONDO:0014129 "Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported." "DOID:0110286 OMIM:615325 Orphanet:363543 ICD10:G71.0 UMLS:C3809137" +MONDO:0014129 "Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported." "DOID:0110286 ICD10CM:G71.0 OMIM:615325 Orphanet:363543 UMLS:C3809137" MONDO:0011516 "OMIM:605105" MONDO:0000672 "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details." "DOID:0060142" NCBITaxon:693762 "GC_ID:1" @@ -34987,55 +34964,55 @@ MONDO:0012712 "OMIM:611694 MESH:C567131 UMLS:C2673697" MONDO:0013077 "OMIM:613005 MESH:C567819 UMLS:C2751698" MONDO:0009328 "OMIM:234800 MESH:C562438 UMLS:C0220738" UBERON:2001431 -MONDO:0009798 "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy." "ICD10:Q87.8 Orphanet:3042 SCTID:726709001 GARD:0004488 MESH:C536420 UMLS:C0796121 OMIM:259050" +MONDO:0009798 "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy." "Orphanet:3042 SCTID:726709001 GARD:0004488 MESH:C536420 ICD10CM:Q87.8 UMLS:C0796121 OMIM:259050" GO:0098793 "The part of a synapse that is part of the presynaptic cell." MONDO:0010317 "UMLS:C0796244 UMLS:C1845298 Orphanet:777 GARD:0005614 MESH:C564502 OMIM:300419 MESH:C563150" -MONDO:0012714 "OMIM:611705 MESH:C567129 SCTID:702343002 UMLS:C2673677 ICD10:G71.8 Orphanet:289377" +MONDO:0012714 "OMIM:611705 ICD10CM:G71.8 MESH:C567129 SCTID:702343002 UMLS:C2673677 Orphanet:289377" MONDO:0002329 "A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia." "ICD9:608.89 SCTID:64910008 DOID:2519 MESH:D013733 UMLS:C0039584 NCIT:C26890" ENVO:01001052 "An environmental system which has its properties and dynamics determined by an aerosol." MONDO:0023134 "Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death." "UMLS:C1274297 MESH:C537077 SCTID:402860008 GARD:0009516" -MONDO:0010371 "An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." "OMIM:300600 MESH:C562664 SCTID:266455006 UMLS:C0268505 DOID:0050630 GARD:0010574 Orphanet:178333 ICD10:H35.5" +MONDO:0010371 "An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." "OMIM:300600 MESH:C562664 SCTID:266455006 ICD10CM:H35.5 UMLS:C0268505 DOID:0050630 GARD:0010574 Orphanet:178333" ENVO:01000819 "An astronomical body part which is composed of the combined mass of water found on, under, and over the surface of a planet." MONDO:0008129 "OMIM:165098 UMLS:C1833836 MESH:C563499" http://identifiers.org/hgnc/20692 NCBITaxon:38323 "PMID:8240958 GC_ID:11 PMID:1371515" -MONDO:0006639 "A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." "HP:0006744 GARD:0000558 DOID:660 SCTID:371964008 ICD10:C74.0 MedDRA:10001388 Orphanet:1501 NCIT:C9327 SCTID:255035007 DOID:3959 EFO:1000796 ICDO:8370/3 NCIT:C9325 UMLS:C0206686 OMIM:202300 ONCOTREE:ACC DOID:3948" +MONDO:0006639 "A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." "HP:0006744 GARD:0000558 DOID:660 SCTID:371964008 MedDRA:10001388 Orphanet:1501 NCIT:C9327 SCTID:255035007 DOID:3959 EFO:1000796 ICDO:8370/3 NCIT:C9325 UMLS:C0206686 OMIM:202300 ONCOTREE:ACC DOID:3948" MONDO:0011515 http://identifiers.org/hgnc/10889 MONDO:0012713 "MESH:C535796 OMIM:611702 GARD:0004992 UMLS:C2673686" UBERON:0002042 GO:0030705 "The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell." HP:0000071 "The presence of a stenotic, i.e., constricted ureter." "UMLS:C0521618 SNOMEDCT_US:95574003" -MONDO:0029000 "A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent." "UMLS:C0302332 MESH:D011041 SCTID:75478009 EFO:0008546" +MONDO:0029000 "A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent." "UMLS:C0302332 ICD10CM:S00-T88 MESH:D011041 SCTID:75478009 ICD10CM:T36-T50 EFO:0008546 ICD10CM:T51-T65" MONDO:0009327 "OMIM:234750 OMIM:140500" -MONDO:0014294 "15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia)." "Orphanet:261183 ICD10:Q93.5 GARD:0010525 OMIM:615656 UMLS:C3180937 DOID:0060393" +MONDO:0014294 "15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia)." "Orphanet:261183 GARD:0010525 ICD10CM:Q93.5 OMIM:615656 UMLS:C3180937 DOID:0060393" MONDO:0001358 "A disease involving the bronchus." "EFO:1002018 NCIT:C34439 SCTID:41427001 DOID:1176 UMLS:C0006261 MESH:D001982 ICD9:519.19" MONDO:0060707 "UMLS:CN244927 OMIM:617982 Orphanet:580940" MONDO:0014928 "Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene." "DOID:0110997 OMIM:617121 UMLS:C4310705" MONDO:0012715 "OMIM:611706" -MONDO:0001003 "Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities." "ICD10:J62.0 SCTID:73144008 ICD9:502 NCIT:C27026 UMLS:C0238377 DOID:10329" -MONDO:0018857 "GARD:0001609 ICD10:B87.0 MedDRA:10059547 Orphanet:504 UMLS:C1562462 SCTID:417441005" +MONDO:0001003 "Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities." "SCTID:73144008 ICD9:502 NCIT:C27026 UMLS:C0238377 DOID:10329" +MONDO:0018857 "GARD:0001609 MedDRA:10059547 Orphanet:504 UMLS:C1562462 ICD10CM:B87.0 SCTID:417441005" GO:0099577 "Any process that modulates synaptic transmission by regulating translation occurring at the presynapse." MONDO:0100090 "Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene." MONDO:0043206 "Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown." "GARD:0005269 UMLS:C0263487 MESH:C536558 SCTID:21049007" MONDO:0014277 "UMLS:C3715079 OMIM:615612" -MONDO:0019508 "Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." "DOID:0060239 ICD9:744.89 Orphanet:888 MESH:C536528 OMIM:604547 UMLS:C0175697 GARD:0008414 NCIT:C74986 OMIM:119300 SCTID:79261008 OMIM:606713 ICD10:Q38.0" +MONDO:0019508 "Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." "DOID:0060239 ICD9:744.89 Orphanet:888 MESH:C536528 OMIM:604547 UMLS:C0175697 GARD:0008414 NCIT:C74986 OMIM:119300 SCTID:79261008 OMIM:606713 ICD10CM:Q38.0" CHEBI:33433 -MONDO:0018326 "Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies." "ICD10:P94.0 UMLS:C0495465 Orphanet:391504 NCIT:C117308" +MONDO:0018326 "Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies." "UMLS:C0495465 Orphanet:391504 NCIT:C117308 ICD10CM:P94.0" MONDO:0014542 "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene." "OMIM:616227 Orphanet:353327 DOID:0110658 Orphanet:590 UMLS:C4015596" -MONDO:0016773 "Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center." "NCIT:C34777 MedDRA:10056959 ICD10:L43.8 SCTID:25858008 GARD:0012675 UMLS:C0023647 Orphanet:254449" -MONDO:0017659 "Orphanet:306776 ICD10:G25.8" -MONDO:0008668 "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)." "NCIT:C131685 UMLS:C1264039 ICD10:D68.0 Orphanet:166078 Orphanet:903 MESH:D056725 OMIM:193400 SCTID:128106003 DOID:0060573" -MONDO:0001449 "A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" "ICD9:049.0 UMLS:C0024266 ICD10:A87.2 DOID:12155 MESH:D008216" +MONDO:0016773 "Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center." "ICD10CM:L43.8 NCIT:C34777 MedDRA:10056959 SCTID:25858008 GARD:0012675 UMLS:C0023647 Orphanet:254449" +MONDO:0017659 "Orphanet:306776 ICD10CM:G25.8" +MONDO:0008668 "Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF)." "NCIT:C131685 ICD10CM:D68.0 UMLS:C1264039 Orphanet:166078 Orphanet:903 MESH:D056725 OMIM:193400 SCTID:128106003 DOID:0060573" +MONDO:0001449 "A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)" "ICD9:049.0 UMLS:C0024266 DOID:12155 ICD10CM:A87.2 MESH:D008216" MONDO:0023541 "UMLS:C2931393 GARD:0003080 MESH:C537011" -MONDO:0004473 "A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas." "NCIT:C35697 DOID:8133 SCTID:187681002 NCIT:C4836 ICD10:C10.1 ICD9:146.4" +MONDO:0004473 "A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas." "NCIT:C35697 DOID:8133 ICD10CM:C10.1 SCTID:187681002 NCIT:C4836 ICD9:146.4" MONDO:0013079 "OMIM:613007 MESH:C567817 UMLS:C2751696 Orphanet:186" PATO:0001795 "A coiling which is relatively high." MONDO:0008331 "OBSOLETE. Apparent optic disc swelling in the absence of increased intracranial pressure." "ICD9:377.24 SCTID:57138009 DOID:1392 OMIM:177800 UMLS:C0155300 Orphanet:519339 MESH:C562401" http://identifiers.org/hgnc/17082 FOODON:00001304 "A fermentation process in which either carbohydrates, proteins or fats are modified through microbial, enzymatic and/or other biological process."@en MONDO:0024325 "A glomangiomyoma that involves the zone of skin." "SCTID:403971002 ICD9:227.6 UMLS:C1275227" -MONDO:0014396 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene." "UMLS:C4014656 OMIM:615916 DOID:0110432 ICD10:I42.0" +MONDO:0014396 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene." "UMLS:C4014656 ICD10CM:I42.0 OMIM:615916 DOID:0110432" MONDO:0042494 "A melanoma that occurs during childhood." "UMLS:C4329660 NCIT:C131506 GARD:0000091" CHEBI:33432 MONDO:0025149 "A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5)" "MESH:D016643" @@ -35048,22 +35025,22 @@ FOODON:00002452 "Invertebrates are animals that neither possess nor develop a ve GO:0045649 "Any process that modulates the frequency, rate or extent of macrophage differentiation." GO:0043565 "Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding." MONDO:0020208 "A myopia (disease) that is part of a larger syndrome." "Orphanet:98620 UMLS:CN227818" -MONDO:0007493 "DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis)." "UMLS:C1851943 GARD:0010138 UMLS:C1860315 SCTID:719276005 Orphanet:98805 DOID:0090041 OMIM:128101 ICD10:G24.1" +MONDO:0007493 "DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis)." "UMLS:C1851943 GARD:0010138 UMLS:C1860315 SCTID:719276005 Orphanet:98805 DOID:0090041 OMIM:128101 ICD10CM:G24.1" http://identifiers.org/hgnc/11828 -MONDO:0014349 "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene." "UMLS:C4014347 OMIM:615803 DOID:0060279 Orphanet:411493 ICD10:Q04.3" +MONDO:0014349 "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene." "UMLS:C4014347 ICD10CM:Q04.3 OMIM:615803 DOID:0060279 Orphanet:411493" MONDO:0014279 MONDO:0100319 "A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia)." CHEBI:30938 -MONDO:0003382 "A disease involving the eyelid." "ICD10:H02.9 ICD9:374.89 ICD9:374.9 SCTID:60113004 DOID:530 NCIT:C26768 MESH:D005141 ICD10:H00" +MONDO:0003382 "A disease involving the eyelid." "ICD9:374.89 ICD9:374.9 SCTID:60113004 DOID:530 NCIT:C26768 ICD10CM:H00 MESH:D005141 ICD10CM:H00-H05" HP:0001287 "Inflammation of the meninges." "UMLS:C0025289 SNOMEDCT_US:7180009 MSH:D008581" http://identifiers.org/hgnc/9038 GO:0003006 "A developmental process in which a progressive change in the state of some part of an organism, germline or somatic, specifically contributes to its ability to form offspring." http://identifiers.org/hgnc/28929 -MONDO:0014013 "Orphanet:411712 ICD10:P00.4 OMIM:615026" -MONDO:0011421 "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene." "ICD10:E88.8 OMIM:604273 DOID:0050768 Orphanet:254913 GARD:0001459 UMLS:C3276276" -MONDO:0008921 "Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency." "NCIT:C125661 ICD10:E70.8 UMLS:C0268632 SCTID:410052008 UMLS:C3495554 OMIM:212200 UMLS:C3495555 Orphanet:1361 GARD:0006001" +MONDO:0014013 "Orphanet:411712 ICD10CM:P00.4 OMIM:615026" +MONDO:0011421 "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene." "OMIM:604273 DOID:0050768 Orphanet:254913 GARD:0001459 UMLS:C3276276" +MONDO:0008921 "Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency." "NCIT:C125661 UMLS:C0268632 SCTID:410052008 UMLS:C3495554 OMIM:212200 UMLS:C3495555 Orphanet:1361 ICD10CM:E70.8 GARD:0006001" MONDO:0017657 "Orphanet:306768 UMLS:CN227171" -MONDO:0015872 "Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement." "ICD10:D24 Orphanet:180267 UMLS:CN200476" +MONDO:0015872 "Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement." "ICD10CM:D24 Orphanet:180267 UMLS:CN200476" MONDO:0021953 "Scarring of the lung parenchyma caused by pulmonary tuberculosis." "ICD9:011.46 ICD9:011.40 ICD9:011.41 UMLS:C0041336 NCIT:C35088 ICD9:011.42 ICD9:011.43 SCTID:90117007 ICD9:011.44" HP:0410008 "Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord." "UMLS:C4073187" http://identifiers.org/hgnc/17084 @@ -35076,44 +35053,45 @@ http://identifiers.org/hgnc/9039 GO:0044267 "The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification." UBERON:0000107 "The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula." GO:0060302 "Any process that decreases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells." -MONDO:0014014 "UMLS:C3554367 Orphanet:412189 ICD10:Q81.0 OMIM:615028" -MONDO:0001875 "Inflammation of the lateral epicondyle." "UMLS:C0014488 DOID:14087 ICD10:M77.1 SCTID:202855006 ICD9:726.32 MESH:D013716 NCIT:C34589" +MONDO:0014014 "UMLS:C3554367 Orphanet:412189 ICD10CM:Q81.0 OMIM:615028" +MONDO:0001875 "Inflammation of the lateral epicondyle." "UMLS:C0014488 ICD10CM:M77.1 DOID:14087 SCTID:202855006 ICD9:726.32 MESH:D013716 NCIT:C34589" HP:0003187 "Underdevelopment of the breast." "SNOMEDCT_US:8915006 UMLS:C0266013" CHEBI:25435 "An agent that increases the frequency of mutations above the normal background level, usually by interacting directly with DNA and causing it damage, including base substitution." -MONDO:0017814 "A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease." "SCTID:766935007 ICD10:C85.7 Orphanet:314684 UMLS:C1332582 NCIT:C6620 ICD10:C85,7 DOID:6759" +MONDO:0017814 "A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease." "SCTID:766935007 Orphanet:314684 UMLS:C1332582 NCIT:C6620 DOID:6759" MONDO:0023540 "UMLS:C2931392 MESH:C537010 Orphanet:1137 GARD:0000191" MONDO:0021143 "MESH:D018326 NCIT:C7058 SCTID:399956005 UMLS:C1302746" MONDO:0000426 "Autosomal dominant form of disease." "SCTID:11164009 DOID:0050736 ICD9:758.5 UMLS:C0265385" NCBITaxon:2726946 "GC_ID:1" -MONDO:0015243 "Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates." "EFO:0007140 ICD10:J99.8* OMIM:103920 ICD10:B44.81 MESH:D001229 ICD10:B44.1+ DOID:13166 ICD9:518.6 UMLS:C0004031 SCTID:37981002 MedDRA:10006474 Orphanet:1164 NCIT:C84547 GARD:0000602" +MONDO:0015243 "Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates." "EFO:0007140 ICD10EXP:B44.1+ OMIM:103920 MESH:D001229 DOID:13166 ICD9:518.6 ICD10EXP:J99.8* UMLS:C0004031 SCTID:37981002 ICD10CM:B44.81 MedDRA:10006474 Orphanet:1164 NCIT:C84547 GARD:0000602" MONDO:0013196 "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene." "MESH:C567685 Orphanet:144 OMIM:613244 UMLS:C2750471 DOID:0070270" -MONDO:0008514 "Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." "OMIM:186100 GARD:0005088 Orphanet:93404 ICD10:Q70.1 SCTID:715725001 UMLS:C1861366 MESH:C538154" +MONDO:0008514 "Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." "OMIM:186100 GARD:0005088 Orphanet:93404 SCTID:715725001 UMLS:C1861366 MESH:C538154 ICD10CM:Q70.1" NCBITaxon:1903410 "PMID:27620848 GC_ID:11" -MONDO:0001936 "SCTID:91612009 DOID:14287 ICD9:379.06 UMLS:C0155356 ICD10:H15.02" +MONDO:0001936 "SCTID:91612009 DOID:14287 ICD9:379.06 UMLS:C0155356" MONDO:0000727 "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm." "MESH:C536624 DOID:0060253 UMLS:C2931268 OMIM:300695 OMIM:181430" http://identifiers.org/hgnc/28086 -MONDO:0011781 "A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." "OMIM:607136 GARD:0010469 MESH:C564616 UMLS:C1833995 SCTID:719249005 OMIM:164700 DOID:0050967 MESH:C563505 ICD10:G11.8 Orphanet:98759 UMLS:C1846707" +MONDO:0011781 "A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." "OMIM:607136 ICD10CM:G11.8 GARD:0010469 MESH:C564616 UMLS:C1833995 SCTID:719249005 OMIM:164700 DOID:0050967 MESH:C563505 Orphanet:98759 UMLS:C1846707" MONDO:0003498 -MONDO:0018941 "Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis)." "Orphanet:591 UMLS:C2931766 ICD10:B87.0 MESH:C538194 GARD:0002418" +MONDO:0018941 "Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis)." "Orphanet:591 UMLS:C2931766 MESH:C538194 ICD10CM:B87.0 GARD:0002418" MONDO:0045010 "A disease that has its basis in the disruption of glycoprotein metabolic process." "UMLS:C0342844 SCTID:238045003" -MONDO:0017498 "Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved." "Orphanet:295093 ICD10:Q71.2" +MONDO:0017498 "Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved." "ICD10CM:Q71.2 Orphanet:295093" GO:0032991 "A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together." NCBITaxon:1933309 "GC_ID:1" http://identifiers.org/hgnc/29284 ENVO:01001055 "An environmental system determined by part of a living or dead animal, or a whole small animal." MONDO:0010573 "GARD:0000578 UMLS:CN237776 MESH:C535610 OMIM:304200 Orphanet:79482" -MONDO:0016542 "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma." "OMIM:615767 UMLS:CN201623 OMIM:613148 GARD:0013016 ICD10:K52.8 Orphanet:238569 OMIM:612567" -MONDO:0043579 "Inflammation of the small intestine." "SCTID:64613007 NCIT:C26765 UMLS:C0014335 MESH:D004751" +MONDO:0016542 "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma." "OMIM:615767 ICD10CM:K52.8 UMLS:CN201623 OMIM:613148 GARD:0013016 Orphanet:238569 OMIM:612567" +MONDO:0043579 "Inflammation of the small intestine." "SCTID:64613007 NCIT:C26765 ICD10CM:K50-K52 UMLS:C0014335 MESH:D004751" MONDO:0006403 "A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." "UMLS:C1519172 NCIT:C40410 EFO:1000516 DOID:297" CHEBI:37838 "A carboacyl group is a group formed by loss of at least one OH from the carboxy group of a carboxylic acid." GO:0000981 "A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II." NCBITaxon:1903411 "PMID:27620848 GC_ID:11" -MONDO:0016820 "Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes." "Orphanet:2573 ICD10:I67.5 OMIM:614042 MESH:D009072 OMIMPS:252350 OMIM:300845 Orphanet:280679 OMIM:252350 SCTID:69116000 Orphanet:401945 OMIM:608796 NCIT:C84895 OMIM:615750 DOID:13099 ICD9:437.5 GARD:0007064 MedDRA:10028047 OMIM:607151 SCTID:89142007 UMLS:C0026654" -MONDO:0004719 "A malignant neoplasm involving the hard palate." "SCTID:363387004 NCIT:C3528 DOID:9149 ICD10:C05.0 UMLS:C0153375 ICD9:145.2" +MONDO:0016820 "Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes." "Orphanet:2573 OMIM:614042 MESH:D009072 OMIMPS:252350 OMIM:300845 Orphanet:280679 OMIM:252350 SCTID:69116000 Orphanet:401945 OMIM:608796 NCIT:C84895 OMIM:615750 DOID:13099 ICD9:437.5 GARD:0007064 MedDRA:10028047 OMIM:607151 SCTID:89142007 UMLS:C0026654" +MONDO:0004719 "A malignant neoplasm involving the hard palate." "ICD10CM:C05.0 SCTID:363387004 NCIT:C3528 DOID:9149 UMLS:C0153375 ICD9:145.2" MONDO:0001937 MONDO:0011770 "UMLS:C1846837 Orphanet:91387 MESH:C564627 OMIM:607087" UBERON:0016426 -MONDO:0008806 "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991." "SCTID:733118006 ICD10:Q87.8 OMIM:207620 MESH:C535881 UMLS:C1859754 GARD:0003051 Orphanet:1112" +MONDO:0008806 "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991." "SCTID:733118006 OMIM:207620 MESH:C535881 UMLS:C1859754 GARD:0003051 Orphanet:1112 ICD10CM:Q87.8" +MONDO:0100487 "A platelet disorder in which the cause of the disease is a variant in the TPM4 gene." CL:0000817 "A precursor B cell is a B cell with the phenotype CD10-positive." "CALOHA:TS-0819 BTO:0001133" MONDO:0036696 "A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma." "NCIT:C3383 GARD:0007683" MFOMD:0000101 "\nErroneous beliefs that usually involve a misinterpretation of perceptions or experiences. (their content may include a variety of themes (e.g., persecutory, referential, somatic, religious, or grandiose).\n\n\nDSM-IV-TR (american Psychiatric Association)" @@ -35121,16 +35099,16 @@ NCBITaxon:1759442 "GC_ID:1" UBERON:0015228 MONDO:0015585 "Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity." "Orphanet:163708" MONDO:0000738 -MONDO:0019808 "A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure." "NCIT:C98818 MedDRA:10066801 Orphanet:95448 ICD10:Q23.0 SCTID:51442005 HP:0010883" +MONDO:0019808 "A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure." "NCIT:C98818 MedDRA:10066801 Orphanet:95448 ICD10CM:Q23.0 SCTID:51442005 HP:0010883" MONDO:0024279 "A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding." "UMLS:C0238104 NCIT:C102820 SCTID:63922003" NCBITaxon:11632 "GC_ID:1" GO:0001911 "Any process that stops, prevents, or reduces the rate of leukocyte mediated cytotoxicity." MONDO:0007190 "Orphanet:67038 OMIM:109543" MONDO:0005558 "A disease involving the ovary." "DOID:1100 EFO:0005771 SCTID:5552004 NCIT:C26841 MESH:D010049 UMLS:C0029928" -MONDO:0011634 "A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch" "MedDRA:10069417 ICD9:359.29 SCTID:709281006 ICD10:G71.8" +MONDO:0011634 "A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch" "ICD10CM:G71.8 MedDRA:10069417 ICD9:359.29 SCTID:709281006" MONDO:0001026 "OBSOLETE. A infectious disease involving the Bacteria." MONDO:0001934 -MONDO:0021129 "Congenital or developmental anomaly in which the eyeballs are abnormally small." "OMIMPS:600165 OMIM:206900 Orphanet:35612 NCIT:C98989 OMIM:614402 OMIM:601186 OMIM:613094 EFO:0005569 OMIM:609549 ICD9:743.11 OMIM:300166 OMIM:611038 OMIM:309801 OMIM:611897 HP:0000568 ICD9:743.1 DOID:10629 ICD9:743.10 SCTID:204108000 OMIM:607932 ICD10:Q11.2 OMIM:600165 MESH:D008850 OMIM:611040 OMIM:610093 OMIM:613704 OMIM:615972 OMIM:610125" +MONDO:0021129 "Congenital or developmental anomaly in which the eyeballs are abnormally small." "OMIMPS:600165 OMIM:206900 Orphanet:35612 NCIT:C98989 OMIM:614402 OMIM:601186 OMIM:613094 EFO:0005569 OMIM:609549 ICD9:743.11 OMIM:300166 OMIM:611038 OMIM:309801 OMIM:611897 HP:0000568 ICD9:743.1 DOID:10629 ICD9:743.10 SCTID:204108000 OMIM:607932 OMIM:600165 MESH:D008850 OMIM:611040 OMIM:610093 OMIM:613704 OMIM:615972 OMIM:610125" GO:0044093 "Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding." MONDO:0003912 "A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor." "SCTID:255015006 UMLS:C0346379 DOID:6524 ICD9:190.8 NCIT:C4558" MONDO:0003496 @@ -35140,23 +35118,23 @@ MONDO:0003147 "Disorder characterized by nausea, vomiting, and dizziness, possib MONDO:0100142 "OBSOLETE. A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%." MONDO:0000363 "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ." "DOID:0050584" MONDO:0003230 -MONDO:0009557 "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." "GARD:0003374 Orphanet:90153 MESH:C535705 SCTID:109419009 UMLS:CN236772 Orphanet:2457 ICD10:Q87.5 UMLS:CN206381 OMIM:248370 NCIT:C123417" -MONDO:0018124 "Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed." "MESH:C537751 NCIT:C67235 GARD:0009652 SCTID:392559009 UMLS:C1274103 Orphanet:352540 ICD10:M83.8" +MONDO:0009557 "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." "GARD:0003374 Orphanet:90153 MESH:C535705 SCTID:109419009 UMLS:CN236772 Orphanet:2457 ICD10CM:Q87.5 UMLS:CN206381 OMIM:248370 NCIT:C123417" +MONDO:0018124 "Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed." "MESH:C537751 NCIT:C67235 GARD:0009652 SCTID:392559009 UMLS:C1274103 Orphanet:352540 ICD10CM:M83.8" http://identifiers.org/hgnc/10882 -MONDO:0006769 "Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine." "SCTID:196753007 NCIT:C80512 ICD9:536.3 MedDRA:10018043 EFO:1000948 HP:0002578 DOID:11914 MESH:D018589 ICD10:K31.84 UMLS:C0152020" +MONDO:0006769 "Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine." "ICD10CM:K31.84 SCTID:196753007 NCIT:C80512 ICD9:536.3 MedDRA:10018043 EFO:1000948 HP:0002578 DOID:11914 MESH:D018589 UMLS:C0152020" FOODON:00002454 "A class which contains food product categories qualified by a quality such as granularity or temperature, which is useful for tasks like food inspection where little prior knowledge of how the food came to be is available. Some terms like \"food (frozen)\" are both a quality descriptor and the output of a process."@en MONDO:0000737 -MONDO:0017624 "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN)." "UMLS:CN203511 Orphanet:306516 GARD:0009891 ICD10:E83.4" +MONDO:0017624 "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN)." "UMLS:CN203511 Orphanet:306516 ICD10CM:E83.4 GARD:0009891" GO:0019319 "The chemical reactions and pathways resulting in the formation of hexose, any monosaccharide with a chain of six carbon atoms in the molecule." CL:0001035 "A connective tissue cell found in bone." http://identifiers.org/hgnc/26521 MONDO:0013070 "OMIM:612997 MESH:C567832 DOID:0070173 UMLS:C2751811 Orphanet:276234" MONDO:0005936 "Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae." "EFO:0007461 HP:0006532 SCTID:699014000" -MONDO:0014031 "Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety." "UMLS:C3554439 Orphanet:319671 ICD10:Q87.1 OMIM:615071" -MONDO:0009732 "Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life." "NCIT:C122795 ICD10:N04.8 MedDRA:10060740 Orphanet:839 OMIM:256300 GARD:0001500 SCTID:197601003 UMLS:C0403399" -MONDO:0008061 "A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies." "DOID:9467 MESH:D009261 OMIM:161200 ICD10:Q87.2 SCTID:22199006 MedDRA:10063431 NCIT:C75120 ICD9:759.89 Orphanet:2614 UMLS:C0027341 GARD:0007160" +MONDO:0014031 "Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety." "UMLS:C3554439 Orphanet:319671 ICD10CM:Q87.1 OMIM:615071" +MONDO:0009732 "Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life." "UMLS:C0403399 MedDRA:10060740 OMIM:256300 SCTID:197601003 GARD:0001500 Orphanet:839 ICD10CM:N04.8 NCIT:C122795" +MONDO:0008061 "A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies." "ICD10CM:Q87.2 DOID:9467 MESH:D009261 OMIM:161200 SCTID:22199006 MedDRA:10063431 NCIT:C75120 ICD9:759.89 Orphanet:2614 UMLS:C0027341 GARD:0007160" MONDO:0020602 "Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene." "DOID:0060248 OMIM:312870" -MONDO:0018210 "Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." "OMIM:203450 UMLS:CN204730 ICD10:E75.2 Orphanet:363722" +MONDO:0018210 "Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." "ICD10CM:E75.2 OMIM:203450 UMLS:CN204730 Orphanet:363722" MONDO:0002415 "A carcinoma that involves the bone element." "DOID:2762" MONDO:0013140 "Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene." "SCTID:235073000 Orphanet:1334 UMLS:C0341024 OMIM:613108" HP:0002135 "The presence of calcium deposition affecting one or more structures of the basal ganglia." "UMLS:C1389280" @@ -35171,46 +35149,46 @@ PO:0000019 "A floral structure primordium (PO:0025477) that is committed to the http://identifiers.org/hgnc/29022 MONDO:0000735 NCBITaxon:34622 "GC_ID:1" -MONDO:0001325 "A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma." "ICD10:C60.1 ICD9:187.3 Orphanet:398043 MESH:D010412 ICD10:C60.9 ICD10:C60.2 NCIT:C7547 ICD9:187.4 UMLS:CN226091 DOID:11615 ICD10:C60 ICD10:C60.0 SCTID:363516004 ICD10:C60.8" +MONDO:0001325 "A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma." "ICD9:187.3 Orphanet:398043 ICD10CM:C60.2 MESH:D010412 ICD10CM:C60.8 NCIT:C7547 ICD9:187.4 UMLS:CN226091 DOID:11615 ICD10CM:C60.0 SCTID:363516004 ICD10CM:C60.1 ICD10CM:C60.9" HP:0030852 "Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure)." "UMLS:C0855323" MONDO:0012972 "MESH:C567218 UMLS:C2675251 DOID:0111304 OMIM:612637" CHEBI:37133 -MONDO:0005240 "A disease involving the kidney." "ICD9:583.81 UMLS:C0022658 SCTID:90708001 DOID:557 NCIT:C3149 ICD10:N08 EFO:0003086 ICD10:N28.9 MESH:D007674" +MONDO:0005240 "A disease involving the kidney." "ICD9:583.81 UMLS:C0022658 SCTID:90708001 DOID:557 NCIT:C3149 ICD10CM:N25-N29 EFO:0003086 MESH:D007674" MONDO:0010577 "UMLS:C1844677 MESH:C564433 Orphanet:90625 OMIM:304500 DOID:0111739" -MONDO:0020445 "Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome." "Orphanet:99114 ICD10:Q26.8 ICD9:747.49 SCTID:204464007" +MONDO:0020445 "Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome." "ICD10CM:Q26.8 Orphanet:99114 ICD9:747.49 SCTID:204464007" MONDO:0006423 "A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification." "UMLS:C1275277 EFO:1000540 SCTID:404078000 NCIT:C9482 DOID:3814" MONDO:0002296 MONDO:0014326 "Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene." "DOID:0110929 OMIM:615731 UMLS:C3810384 Orphanet:607" -MONDO:0008477 "Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly." "GARD:0003047 MESH:C535797 Orphanet:93314 DOID:0111554 OMIM:184252 ICD10:Q77.8" +MONDO:0008477 "Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly." "GARD:0003047 MESH:C535797 Orphanet:93314 DOID:0111554 OMIM:184252 ICD10CM:Q77.8" ECTO:0000259 "An exposure to glucocorticoid." -MONDO:0009894 "A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia." "NCIT:C122654 Orphanet:93269 DOID:0110092 ICD10:Q77.2 OMIM:263520" +MONDO:0009894 "A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia." "NCIT:C122654 Orphanet:93269 DOID:0110092 OMIM:263520" MONDO:0018816 "Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease." "UMLS:C4479344 Orphanet:480556 OMIM:617394" -MONDO:0019496 "Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion)." "NCIT:C3809 ICD10:D3A.8 SCTID:255046005 ICD9:209 UMLS:C0003650 UMLS:CN206284 ICD9:209-209.99 MESH:D018358 ICD9:239.7 DOID:169 UMLS:C0206754 EFO:1001901 Orphanet:877" +MONDO:0019496 "Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion)." "NCIT:C3809 SCTID:255046005 ICD9:209 UMLS:C0003650 UMLS:CN206284 ICD9:209-209.99 MESH:D018358 ICD9:239.7 DOID:169 UMLS:C0206754 EFO:1001901 ICD10CM:D3A-D3A Orphanet:877" HP:0001394 "A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function." "UMLS:C0023890 MSH:D008103 SNOMEDCT_US:19943007" http://identifiers.org/hgnc/26527 http://identifiers.org/hgnc/4136 -MONDO:0000733 "HP:0007720 OMIM:217300 OMIMPS:121400 OMIM:121400 Orphanet:53691 SCTID:204145006 DOID:0060287 ICD10:Q13.4" +MONDO:0000733 "HP:0007720 OMIM:217300 OMIMPS:121400 OMIM:121400 Orphanet:53691 SCTID:204145006 DOID:0060287" CHEBI:23132 "Any organochlorine compound containing a benzene ring which is substituted by one or more chlorines." GO:0005977 "The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages." -MONDO:0004650 "A carotid body paraganglioma that metastasizes to other anatomic sites." "UMLS:C0153656 ICD9:194.5 DOID:8731 ICD10:C75.4 SCTID:447883002 NCIT:C3574" +MONDO:0004650 "A carotid body paraganglioma that metastasizes to other anatomic sites." "ICD10CM:C75.4 UMLS:C0153656 ICD9:194.5 DOID:8731 SCTID:447883002 NCIT:C3574" GO:1901575 "The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon." -MONDO:0016025 "Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." "Orphanet:1942 ICD9:345.10 GARD:0002169 OMIM:615369 SCTID:230421008 OMIM:616421 ICD10:G40.4" +MONDO:0016025 "Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children." "Orphanet:1942 ICD9:345.10 ICD10CM:G40.4 GARD:0002169 OMIM:615369 SCTID:230421008 OMIM:616421" GO:0044429 "OBSOLETE. Any constituent part of a mitochondrion, a semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration." -MONDO:0007878 "Increased collapsibility of the larynx." "GARD:0006865 ICD10:Q31.5 OMIM:150280 ICD9:748.3 SCTID:253737007 Orphanet:2373 MedDRA:10060786 MESH:D055092 NCIT:C98971" +MONDO:0007878 "Increased collapsibility of the larynx." "GARD:0006865 ICD10CM:Q31.5 OMIM:150280 ICD9:748.3 SCTID:253737007 Orphanet:2373 MedDRA:10060786 MESH:D055092 NCIT:C98971" MONDO:0014684 "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene." "DOID:0111490 OMIM:616539 EFO:0009036 Orphanet:477684 UMLS:C4225290" MONDO:0012674 "Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene." "DOID:0110022 MESH:C566935 UMLS:C1969108 OMIM:611488" -MONDO:0014735 "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene." "DOID:0110168 ICD10:G60.0 Orphanet:435387 UMLS:C4225244 OMIM:616687" -MONDO:0014249 "Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns." "ICD10:D24 OMIM:615554 Orphanet:50920 UMLS:C3809918" +MONDO:0014735 "Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene." "DOID:0110168 ICD10CM:G60.0 Orphanet:435387 UMLS:C4225244 OMIM:616687" +MONDO:0014249 "Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns." "OMIM:615554 Orphanet:50920 ICD10CM:D24 UMLS:C3809918" http://identifiers.org/hgnc/10887 GO:0052548 "Any process that modulates the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins." -MONDO:0001932 "UMLS:C0156393 DOID:14275 SCTID:248861000 ICD10:N90.5 ICD9:624.1" -MONDO:0008874 "Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989." "GARD:0000812 UMLS:C0342284 OMIM:210740 MESH:C537902 SCTID:237614004 ICD9:759.89 ICD10:E31.8 Orphanet:1227" +MONDO:0001932 "UMLS:C0156393 DOID:14275 SCTID:248861000 ICD10CM:N90.5 ICD9:624.1" +MONDO:0008874 "Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989." "GARD:0000812 UMLS:C0342284 OMIM:210740 MESH:C537902 SCTID:237614004 ICD9:759.89 ICD10CM:E31.8 Orphanet:1227" CHEBI:37134 -MONDO:0015465 "Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones." "OMIM:614378 OMIM:122860 Orphanet:1522 OMIM:218300 ICD10:Q78.8 SCTID:36601008 ICD9:756.89 DOID:0080033 OMIMPS:123000 OMIM:614099 OMIM:123000 OMIM:218400" -MONDO:0018463 "Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders." "ICD10:E79.8 OMIM:300661 Orphanet:411536 UMLS:CN237443" -MONDO:0001585 "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences." "ICD10:F16.1 DOID:12797 ICD9:305.3 SCTID:74851005" +MONDO:0015465 "Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones." "OMIM:614378 OMIM:122860 Orphanet:1522 OMIM:218300 SCTID:36601008 ICD9:756.89 DOID:0080033 ICD10CM:Q78.8 OMIMPS:123000 OMIM:614099 OMIM:123000 OMIM:218400" +MONDO:0018463 "Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders." "OMIM:300661 Orphanet:411536 UMLS:CN237443 ICD10CM:E79.8" +MONDO:0001585 "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences." "DOID:12797 ICD9:305.3 SCTID:74851005" MONDO:0005303 "Drug dependence - replaced the term \"drug addiction\" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug." "DOID:9974 ICD9:304.6 MESH:D019966 EFO:0003890 ICD9:304 ICD9:304.60 ICD9:304.90 NCIT:C3894 SCTID:191816009" -MONDO:0011869 "Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters." "UMLS:C1843477 ICD10:Q81.0 OMIM:607600 MESH:C564368 Orphanet:89839" +MONDO:0011869 "Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters." "UMLS:C1843477 ICD10CM:Q81.0 OMIM:607600 MESH:C564368 Orphanet:89839" HP:0000499 "An abnormality of the eyelashes." "UMLS:C2675111" GO:0048869 "A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition." MONDO:0006747 "Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." "SCTID:370514003 MESH:D004767 UMLS:C0014371 EFO:1000922 ICD9:799.89" @@ -35224,28 +35202,28 @@ MONDO:0011511 "UMLS:C1857942 OMIM:605040 MESH:C565729" MONDO:0005938 "Infection of the kidney due to mycobacteria." "NCIT:C123020 MESH:D014398 DOID:9733 SCTID:44323002 ICD9:016.0 EFO:0007463 ICD9:016.00 UMLS:C0041328" http://identifiers.org/hgnc/14581 MONDO:0000999 -MONDO:0012912 "Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP)." "ICD9:275.49 ICD10:E20.1 MESH:D011556 Orphanet:79445 NCIT:C129722 Orphanet:665 SCTID:237659007 OMIM:612463 DOID:4183 GARD:0007860 UMLS:C0033835" -MONDO:0013571 "A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide." "OMIM:614097 ICD10:E80.3 NCIT:C84526 HGNC:1516 EFO:0004144 UMLS:C0268419 GARD:0000363 SCTID:124202004 MESH:D020642 DOID:2582 Orphanet:926 ICD9:277.6" +MONDO:0012912 "Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP)." "ICD10CM:E20.1 ICD9:275.49 MESH:D011556 Orphanet:79445 NCIT:C129722 Orphanet:665 SCTID:237659007 OMIM:612463 DOID:4183 GARD:0007860 UMLS:C0033835" +MONDO:0013571 "A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide." "OMIM:614097 NCIT:C84526 HGNC:1516 EFO:0004144 UMLS:C0268419 GARD:0000363 SCTID:124202004 MESH:D020642 DOID:2582 Orphanet:926 ICD9:277.6" NCBITaxon:693766 "GC_ID:1" MONDO:0002294 MONDO:0700088 "Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation." "Orphanet:98810 GARD:0008722" -MONDO:0012138 "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." "DOID:0110637 MESH:C563844 Orphanet:370968 UMLS:C1837229 OMIM:608840 ICD10:G71.2 Orphanet:98894" +MONDO:0012138 "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12." "DOID:0110637 MESH:C563844 Orphanet:370968 UMLS:C1837229 OMIM:608840 Orphanet:98894" MONDO:0020211 "A keratoconus (disease) that is part of a larger syndrome." "UMLS:CN227821 Orphanet:98623" MONDO:0002595 "The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine." "MESH:D014615 ICD9:999.0 UMLS:C0042214 SCTID:111852003 DOID:3298" -MONDO:0013035 "Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." "DOID:0060381 OMIM:612913 Orphanet:141000 ICD10:Q87.0 GARD:0004118 MESH:C557821 SCTID:718681002" -MONDO:0005295 "A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate." "MESH:D007383 UMLS:C0021775 ICD10:I73.9 SCTID:63491006 ICD9:440.21 DOID:3669 EFO:0003876" +MONDO:0013035 "Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects." "DOID:0060381 OMIM:612913 Orphanet:141000 ICD10CM:Q87.0 GARD:0004118 MESH:C557821 SCTID:718681002" +MONDO:0005295 "A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate." "MESH:D007383 UMLS:C0021775 SCTID:63491006 ICD9:440.21 DOID:3669 EFO:0003876" http://identifiers.org/hgnc/4138 MONDO:0000731 -MONDO:0006531 "A cholesteatoma in the attic" "ICD10:H71.00 EFO:1000676 UMLS:C0155489 SCTID:38708003 ICD9:385.31 ICD10:H71.0 DOID:10963" +MONDO:0006531 "A cholesteatoma in the attic" "EFO:1000676 UMLS:C0155489 SCTID:38708003 ICD9:385.31 DOID:10963" GO:0055123 "The process whose specific outcome is the progression of the digestive system over time, from its formation to the mature structure. The digestive system is the entire structure in which digestion takes place. Digestion is all of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism." -MONDO:0009979 "Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris." "MESH:C564844 UMLS:C1867332 ICD10:H35.5 OMIM:179840 OMIM:267800 Orphanet:99002 OMIM:617175" +MONDO:0009979 "Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris." "MESH:C564844 UMLS:C1867332 OMIM:179840 OMIM:267800 ICD10CM:H35.5 Orphanet:99002 OMIM:617175" MONDO:0054861 "OMIM:618095" -MONDO:0002562 "A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others." "NCIT:C34527 ICD10:G35.G37 UMLS:C0011303 DOID:3213 MESH:D003711" +MONDO:0002562 "A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others." "NCIT:C34527 UMLS:C0011303 ICD10CM:G35-G37 DOID:3213 MESH:D003711" MONDO:0004597 "Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism." "EFO:1001408 NCIT:C50714 ICD9:415.19 SCTID:64662007 MESH:D054060 DOID:8516 ICD9:415.1" NCBITaxon:34625 "GC_ID:1" GO:0007009 "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane." MONDO:0021032 "A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve." "SCTID:186525007 NCIT:C34696 UMLS:C0019362 ICD9:053.20" -MONDO:0016385 "This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature." "UMLS:C2931685 SCTID:721841001 ICD10:Q87.8 Orphanet:2233 GARD:0001078 MESH:C537981" +MONDO:0016385 "This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature." "UMLS:C2931685 SCTID:721841001 Orphanet:2233 ICD10CM:Q87.8 GARD:0001078 MESH:C537981" GO:0006699 "The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile." GO:0006952 "Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack." http://identifiers.org/hgnc/29021 @@ -35254,10 +35232,10 @@ MONDO:0010312 "MESH:C564523 UMLS:C1845717 OMIM:300378" MONDO:0001806 "A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma." "NCIT:C40242 DOID:138 UMLS:C1519931" MONDO:0004692 MONDO:0100479 "A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications." -MONDO:0020422 "Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise." "Orphanet:99086 ICD10:Q24.5" +MONDO:0020422 "Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise." "ICD10CM:Q24.5 Orphanet:99086" MONDO:0003228 MONDO:0003245 "A hepatocellular carcinoma that develops following exposure to aflatoxin." "DOID:5022 NCIT:C27922 UMLS:C1332222" -MONDO:0005555 "Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." "SCTID:68158006 ICD9:367.51 EFO:0005758 SCTID_2010_1_31:232141000 UMLS:C0235238 Wikipedia:Cycloplegia DOID:10033 SCTID_2010_1_31:255335004 ICD10:H52.52 SCTID_2010_1_31:68158006" +MONDO:0005555 "Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." "SCTID:68158006 ICD9:367.51 EFO:0005758 UMLS:C0235238 Wikipedia:Cycloplegia DOID:10033" UBERON:0005638 MONDO:0100363 "Any herpes simplex type 2 infectious disease that involves the genitals." MONDO:0020153 "A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure." "Orphanet:98562 SCTID:400951005 ICD9:743.06 NCIT:C124520 DOID:0111716 GARD:0010505" @@ -35269,7 +35247,7 @@ MONDO:0017797 "OBSOLETE. Any of the forms of odontogenic neoplasm that have a ra MONDO:0013484 "Any cataract in which the cause of the disease is a mutation in the TDRD7 gene." "UMLS:C3151304 OMIM:613887 DOID:0110247" HP:0010668 "An abnormality of the zygomatic bone." "UMLS:C4023749" MONDO:0011919 "Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene." "OMIM:607836" -MONDO:0018437 "Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy." "Orphanet:402026 SCTID:763309005 ICD10:C92.0" +MONDO:0018437 "Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy." "Orphanet:402026 SCTID:763309005 ICD10CM:C92.0" NCBITaxon:2169992 "GC_ID:1" UBERON:0008397 http://identifiers.org/hgnc/1641 @@ -35277,24 +35255,24 @@ MONDO:0021331 "A carcinoma that involves the parotid gland." "SCTID:254462001 EF MONDO:0043862 "A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis." "SCTID:71941009 MESH:D014832 NCIT:C3441" NCBITaxon:34630 "PMID:14707501 GC_ID:1" CHEBI:50630 "A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 1." -MONDO:0016349 "Hydrocephalus that is present at birth." "SCTID:47032000 OMIM:615219 Orphanet:2185 MedDRA:10010506 ICD10:Q03.9 ICD10:Q03.8 OMIMPS:236600 UMLS:C0020256 ICD10:Q03.1 ICD10:Q03.0 NCIT:C98876 ICD10:Q03 OMIM:236600" +MONDO:0016349 "Hydrocephalus that is present at birth." "ICD10CM:Q03.9 SCTID:47032000 ICD10CM:Q03.8 OMIM:615219 ICD10CM:Q03.1 Orphanet:2185 MedDRA:10010506 ICD10CM:Q03.0 ICD10CM:Q03 OMIMPS:236600 UMLS:C0020256 NCIT:C98876 OMIM:236600" MONDO:0004108 "A meningioma that affects the diaphragma sellae." "UMLS:C1333283 NCIT:C5283 DOID:7103" -MONDO:0011801 "Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia." "ICD10:G60.2 SCTID:765091006 Orphanet:94124 DOID:0090115 OMIM:607250 UMLS:C1846574 MESH:C537313 GARD:0010000 GARD:10000" -MONDO:0007562 "Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits." "Orphanet:166011 OMIM:132450 DOID:0111348 ICD10:Q77.3 SCTID:719689005 MESH:C565046" +MONDO:0011801 "Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia." "ICD10CM:G60.2 SCTID:765091006 Orphanet:94124 DOID:0090115 OMIM:607250 UMLS:C1846574 MESH:C537313 GARD:0010000 GARD:10000" +MONDO:0007562 "Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits." "Orphanet:166011 ICD10CM:Q77.3 OMIM:132450 DOID:0111348 SCTID:719689005 MESH:C565046" http://identifiers.org/hgnc/7997 MONDO:0032702 "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene." "OMIM:618362" MONDO:0005973 "Infections with nematodes of the order strongylida." "MESH:D017206 EFO:0007500" -MONDO:0011758 "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." "NCIT:C61261 OMIM:607014 ICD10:E76.0 Orphanet:93473 GARD:0012559 DOID:0111390 Orphanet:579" +MONDO:0011758 "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy." "NCIT:C61261 OMIM:607014 Orphanet:93473 GARD:0012559 DOID:0111390 ICD10CM:E76.0 Orphanet:579" MONDO:0003229 -MONDO:0015636 "Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans." "SCTID:73328005 ICD9:125.6 UMLS:C0012602 EFO:0007239 DOID:1082 ICD10:B74.8 GARD:0011908 MESH:D004184 Orphanet:166291" +MONDO:0015636 "Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans." "ICD10CM:B74.8 SCTID:73328005 ICD9:125.6 UMLS:C0012602 EFO:0007239 DOID:1082 GARD:0011908 MESH:D004184 Orphanet:166291" MONDO:0005622 -MONDO:0011499 "Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported." "ICD10:Q87.8 GARD:0004064 UMLS:C1858043 MESH:C565736 Orphanet:2729 OMIM:604916 SCTID:722065002" +MONDO:0011499 "Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported." "GARD:0004064 ICD10CM:Q87.8 UMLS:C1858043 MESH:C565736 Orphanet:2729 OMIM:604916 SCTID:722065002" MONDO:0045048 "A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." "NCIT:C34943" MONDO:0011462 "A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin." "UMLS:C1858361 Orphanet:69126 OMIM:604416 DOID:0080519 NCIT:C119055 SCTID:724015007 GARD:0009176 MESH:C536253" UBERON:0006834 MONDO:0004424 -MONDO:0018019 "5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs." "SCTID:38342005 ICD9:984.8 Orphanet:330015 ICD9:984.9 ICD10:T56.0 MESH:D007855" -MONDO:0018694 "A congenital or acquired abnormal communication between the trachea and the esophagus." "Orphanet:454750 ICD10:Q39.2 NCIT:C35080" +MONDO:0018019 "5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs." "SCTID:38342005 ICD9:984.8 Orphanet:330015 ICD9:984.9 MESH:D007855" +MONDO:0018694 "A congenital or acquired abnormal communication between the trachea and the esophagus." "Orphanet:454750 NCIT:C35080" MONDO:0017660 "Orphanet:307052 UMLS:CN227172" CL:1000303 "A fibroblast that is part of the areolar connective tissue." "FMA:261279" UBERON:0007198 @@ -35304,34 +35282,34 @@ UBERON:0019190 CL:0000484 "Mast cell subtype whose granules contain both the serine proteases tryptase and chymase. These cells are primarily found in connective tissue, such as the peritoneal cavity, skin, and intestinal submucosa. Their development is T-cell independent." MONDO:0045004 "A disease or disorder that involves the skeletal ligament." MONDO:0000294 "An disease or disorder caused by infection with Mesocestoides." "UMLS:C0277108 SCTID:85750001 UMLS:C0277110 DOID:0050253" -MONDO:0009977 "Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele." "MESH:C537209 ICD9:759.89 UMLS:C1849409 OMIM:267750 ICD10:Q15.8 GARD:0000380 Orphanet:1571 SCTID:703542000" +MONDO:0009977 "Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele." "MESH:C537209 ICD9:759.89 UMLS:C1849409 OMIM:267750 GARD:0000380 Orphanet:1571 SCTID:703542000 ICD10CM:Q15.8" GO:0031301 "The component of the organelle membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane." -MONDO:0005736 "Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality." "ICD10:A83.2 MESH:D020242 ICD9:062.2 EFO:0007242 DOID:10841 GARD:0010821 Orphanet:83594 MedDRA:10014587 UMLS:C0153065" +MONDO:0005736 "Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality." "MESH:D020242 ICD9:062.2 ICD10CM:A83.2 EFO:0007242 DOID:10841 GARD:0010821 Orphanet:83594 MedDRA:10014587 UMLS:C0153065" UBERON:0006833 NCBITaxon:34632 "GC_ID:1" FOODON:03420127 "Includes carcass meat, organ meat, and nonmeat parts of animals, as well as the whole animal."@en MONDO:0012845 "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene." "UMLS:C2677079 OMIM:612278 MESH:C567372 DOID:0110890" MONDO:0006822 CHEBI:47811 -MONDO:0016772 "Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions." "Orphanet:254424 GARD:0012674 UMLS:C0406363 SCTID:201000006 ICD10:L43.8" +MONDO:0016772 "Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions." "Orphanet:254424 GARD:0012674 ICD10CM:L43.8 UMLS:C0406363 SCTID:201000006" GO:0006082 "The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage." -MONDO:0007045 "Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males." "ICD10:Q75.4 UMLS:C2931762 MESH:C538182 OMIM:101805 Orphanet:1786 GARD:0000494 SCTID:720419000 DOID:0060384" -MONDO:0013859 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene." "ICD10:Q12.0 DOID:0110245 OMIM:614691 Orphanet:91492 UMLS:C3553494" +MONDO:0007045 "Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males." "ICD10CM:Q75.4 UMLS:C2931762 MESH:C538182 OMIM:101805 Orphanet:1786 GARD:0000494 SCTID:720419000 DOID:0060384" +MONDO:0013859 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene." "DOID:0110245 OMIM:614691 Orphanet:91492 UMLS:C3553494" UBERON:0007197 MONDO:0001005 "Pneumoconiosis caused by inhalation of kaolin dust." "ICD9:502 NCIT:C35315 DOID:10331 SCTID:36696005 UMLS:C0264435 GARD:0008355" GO:0042866 "The chemical reactions and pathways resulting in the formation of pyruvate, 2-oxopropanoate." MONDO:0002495 "An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells." "NCIT:C7967 UMLS:C1707436 DOID:3033" MONDO:0000629 "A benign neoplasm that involves the cardiovascular system." "DOID:0060091" MONDO:0007366 "Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene." "UMLS:C1852581 OMIM:121201 Orphanet:1949" -MONDO:0016053 "Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms." "SCTID:766709000 Orphanet:199630 ICD10:Q04.3" +MONDO:0016053 "Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms." "SCTID:766709000 Orphanet:199630 ICD10CM:Q04.3" GO:0042636 "Any process that stops, prevents, or reduces the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair." MONDO:0003118 "An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma." "NCIT:C39953 UMLS:C1515281 DOID:4739" MONDO:0006073 "A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." "NCIT:C4310 EFO:1000072 MESH:C538229 ICDO:9300/0" GO:0006564 "The chemical reactions and pathways resulting in the formation of L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid." HP:0011355 "A lesion of the skin that is located in a specific region rather than being generalized." "UMLS:C0850826" -MONDO:0010878 "Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment." "DOID:0110811 GARD:0004928 OMIM:600363 ICD10:G11.4 SCTID:732949006 UMLS:C1838192 MESH:C536866 UMLS:C4518537 Orphanet:100988" -MONDO:0008306 "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2." "DOID:0070029 MESH:C538208 ICD10:E85.4+ Orphanet:97345 ICD10:I68.0* UMLS:C1867773 OMIM:176500 GARD:0008344" -MONDO:0013166 "Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration." "GARD:0000194 ICD10:E72.8 MESH:C535407 DOID:0060174 UMLS:C0342708 SCTID:237941007 HGNC:23 Orphanet:2066 OMIM:613163" +MONDO:0010878 "Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment." "DOID:0110811 ICD10CM:G11.4 GARD:0004928 OMIM:600363 SCTID:732949006 UMLS:C1838192 MESH:C536866 UMLS:C4518537 Orphanet:100988" +MONDO:0008306 "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2." "DOID:0070029 ICD10EXP:E85.4+ MESH:C538208 Orphanet:97345 UMLS:C1867773 OMIM:176500 ICD10EXP:I68.0* GARD:0008344" +MONDO:0013166 "Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration." "GARD:0000194 ICD10CM:E72.8 MESH:C535407 DOID:0060174 UMLS:C0342708 SCTID:237941007 HGNC:23 Orphanet:2066 OMIM:613163" http://identifiers.org/hgnc/6530 GO:0019889 "The chemical reactions and pathways involving pteridine, pyrazino(2,3-dipyrimidine), the parent structure of pterins and the pteroyl group." NCBITaxon:27317 @@ -35339,9 +35317,9 @@ MONDO:0002883 "A neoplasm with neuroendocrine differentiation that arises from t GO:1904540 "Any process that activates or increases the frequency, rate or extent of glycolytic process through fructose-6-phosphate." http://identifiers.org/hgnc/2843 MONDO:0003224 -MONDO:0021642 "A varicose disease that involves the mammalian vulva." "HP:0100677 ICD9:456.6 ICD10:I86.3 UMLS:C0155796 SCTID:48868008" +MONDO:0021642 "A varicose disease that involves the mammalian vulva." "HP:0100677 ICD9:456.6 ICD10CM:I86.3 UMLS:C0155796 SCTID:48868008" HP:0004297 "An abnormality of the biliary system." "UMLS:C0940767" -MONDO:0007008 "A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." "ICD10:N19 UMLS:C0041948 MESH:D014511 EFO:1001226 DOID:4676 MedDRA:10046369 SCTID:44730006" +MONDO:0007008 "A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." "UMLS:C0041948 MESH:D014511 EFO:1001226 DOID:4676 MedDRA:10046369 SCTID:44730006" HP:0011028 "An abnormality of blood circulation." "UMLS:C4020760 UMLS:C4023585" MONDO:0006445 "OBSOLETE. A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." MONDO:0004453 "A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli." "UMLS:C1515309 DOID:8081 NCIT:C39929" @@ -35352,38 +35330,38 @@ MONDO:0004341 "An infiltrating pancreatic ductal adenocarcinoma, characterized b UBERON:0010330 MONDO:0004687 "SCTID:312905005 DOID:8946 UMLS:C0730278 ICD9:362.06" MONDO:0004367 "A meningioma that affects the petroclival region." "DOID:7818 NCIT:C5278 UMLS:C1335395" -MONDO:0016703 "An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." "EFO:0002500 UMLS:C0431108 ICD10:C71.9 Orphanet:251663 GARD:0010637 ONCOTREE:AOAST NCIT:C6959" +MONDO:0016703 "An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." "EFO:0002500 UMLS:C0431108 Orphanet:251663 GARD:0010637 ONCOTREE:AOAST NCIT:C6959 ICD10CM:C71.9" MONDO:0007181 "OMIM:109130 MESH:C537791 GARD:0008431 DOID:0080039 UMLS:C1862372" -MONDO:0013010 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3." "MESH:C567562 ICD10:H90.3 OMIM:612789 DOID:0110522 UMLS:C2748554" +MONDO:0013010 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3." "MESH:C567562 OMIM:612789 DOID:0110522 UMLS:C2748554" MONDO:0002397 "A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma." "SCTID:254601002 UMLS:C0345906 DOID:270 NCIT:C4437" HP:0410280 "Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset." MONDO:0002298 "A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells." "SCTID:403970001 DOID:2435 UMLS:C1275226 NCIT:C6750" -MONDO:0008752 "Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." "Orphanet:58 UMLS:C0270726 GARD:0005774 OMIM:203450 DOID:4252 ICD10:E75.2 MESH:D038261 SCTID:81854007 NCIT:C84545" +MONDO:0008752 "Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." "Orphanet:58 UMLS:C0270726 GARD:0005774 OMIM:203450 DOID:4252 ICD10CM:E75.2 MESH:D038261 SCTID:81854007 NCIT:C84545" MONDO:0007609 "Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene." "Orphanet:2024 UMLS:C0399440 UMLS:CN030594 OMIM:135300 GARD:0006509" HP:0002198 "An abnormal dilatation of the fourth cerebral ventricle." "UMLS:C1847117" MONDO:0036779 "A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes." "NCIT:C35749 SCTID:126639006 UMLS:C1290308" -MONDO:0008394 "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry." "MedDRA:10062282 GARD:0004870 MESH:D056730 DOID:14681 ICD9:759.89 Orphanet:813 NCIT:C85068 SCTID:15069006 ICD10:Q87.1 OMIM:312780 UMLS:C0175693 OMIMPS:180860 OMIM:616489" +MONDO:0008394 "Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry." "MedDRA:10062282 GARD:0004870 MESH:D056730 DOID:14681 ICD9:759.89 Orphanet:813 NCIT:C85068 SCTID:15069006 ICD10CM:Q87.1 OMIM:312780 UMLS:C0175693 OMIMPS:180860 OMIM:616489" MONDO:0008385 "OMIM:180360 MESH:C566708" MONDO:0006386 "A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity." "EFO:1000494 UMLS:C1514429 NCIT:C40023" MONDO:0024280 "An arthritis affecting five or more separate joints." "SCTID:416956002 NCIT:C26996" -MONDO:0014506 "Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene." "Orphanet:438114 OMIM:616140 UMLS:C4015323 ICD10:E75.2 DOID:0060791" +MONDO:0014506 "Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene." "Orphanet:438114 OMIM:616140 UMLS:C4015323 ICD10CM:E75.2 DOID:0060791" GO:0043393 "Any process that modulates the frequency, rate or extent of protein binding." MONDO:0015423 "OBSOLETE. Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans." MONDO:0003169 "A astrocytoma that involves the diencephalon." "NCIT:C5128 DOID:4855 UMLS:C1333284" http://identifiers.org/hgnc/9291 MONDO:0023833 "Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment." "GARD:0009824 MESH:C537374 UMLS:C1533060 SCTID:414783007" http://identifiers.org/hgnc/5331 -MONDO:0007034 "Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects." "SCTID:34748004 OMIM:616589 DOID:0060227 OMIM:614814 UMLS:C0265268 OMIM:615297 OMIM:614219 OMIM:100300 ICD10:Q87.2 ICD9:759.89 MESH:C538225 OMIMPS:100300 GARD:0005739 Orphanet:974 OMIM:616028" +MONDO:0007034 "Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects." "GARD:0005739 ICD9:759.89 OMIM:615297 OMIM:616589 Orphanet:974 MESH:C538225 DOID:0060227 OMIMPS:100300 OMIM:100300 ICD10CM:Q87.2 UMLS:C0265268 SCTID:34748004 OMIM:616028 OMIM:614814 OMIM:614219" http://identifiers.org/hgnc/23198 MONDO:0004686 "UMLS:C0155127 HP:0001149 ICD9:277.39 SCTID:1192004 DOID:8943 ICD9:357.4" MONDO:0004008 "A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia." "NCIT:C36086 UMLS:C1333620 DOID:6841" UBERON:0005636 http://identifiers.org/hgnc/26530 -MONDO:0002635 "An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support." "ICD9:523.8 SCTID:2556008 MESH:D010510 NCIT:C63743 DOID:3388 UMLS:C0031090 ICD10:K05.6" +MONDO:0002635 "An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support." "ICD9:523.8 SCTID:2556008 MESH:D010510 NCIT:C63743 DOID:3388 UMLS:C0031090" MONDO:0003488 GO:0006568 "The chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid." GO:0016116 "The chemical reactions and pathways involving carotenoids, tetraterpenoid compounds in which two units of 4 isoprenoid residues joined head-to-tail are themselves joined tail-to-tail." -MONDO:0019349 "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability." "OMIM:614753 UMLS:CN239475 UMLS:C0175695 MESH:D058495 OMIM:117550 SCTID:75968004 Orphanet:821 OMIMPS:117550 NCIT:C75019 MedDRA:10064387 GARD:0010091 OMIM:617169 ICD10:Q87.3 DOID:14748" +MONDO:0019349 "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability." "OMIM:614753 UMLS:CN239475 UMLS:C0175695 MESH:D058495 OMIM:117550 SCTID:75968004 Orphanet:821 OMIMPS:117550 NCIT:C75019 MedDRA:10064387 GARD:0010091 OMIM:617169 ICD10CM:Q87.3 DOID:14748" GO:0022843 "Enables the transmembrane transfer of a cation by a voltage-gated channel. A cation is a positively charged ion. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded." MONDO:0003219 "A carcinoma that arises from glandular epithelial cells of the esophagogastric junction." "DOID:4944 UMLS:C1332166 ONCOTREE:GEJ NCIT:C9296 ONCOTREE:EGC" MONDO:0000729 @@ -35412,15 +35390,15 @@ MONDO:0002221 "Papilloma's are benign epithelial neoplasms that produce visible CL:0000181 "A cell whose primary function is intermediary metabolism." GO:0030054 "A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella." http://identifiers.org/hgnc/21637 -MONDO:0018537 "Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement." "ICD10:C24.1 SCTID:766978002 ICD10:C23 ICD10:C24.0 Orphanet:424996 ICD10:C24.9 ICD10:C24.8 UMLS:CN237538" +MONDO:0018537 "Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement." "SCTID:766978002 Orphanet:424996 UMLS:CN237538" MONDO:0020685 "An ependymal tumor arising from the infratentorial region of the brain." "NCIT:C131612" NCBITaxon:2169991 "GC_ID:1" -MONDO:0019448 "Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." "ICD10:G40.3 DOID:0111689 OMIM:615400 Orphanet:86814 UMLS:CN206220 OMIM:601068 UMLS:C4273988 OMIM:613608 SCTID:717225001 OMIM:615127 OMIM:607876" -MONDO:0013269 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene." "ICD10:H90.3 UMLS:C3150704 DOID:0110536 OMIM:613453" +MONDO:0019448 "Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." "DOID:0111689 ICD10CM:G40.3 OMIM:615400 Orphanet:86814 UMLS:CN206220 OMIM:601068 UMLS:C4273988 OMIM:613608 SCTID:717225001 OMIM:615127 OMIM:607876" +MONDO:0013269 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene." "UMLS:C3150704 DOID:0110536 OMIM:613453" CL:0008019 "A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration." -MONDO:0018054 "An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular." "Orphanet:334 ICD10:I48.9 OMIM:614022 OMIM:614050 OMIM:613055 OMIM:615770 OMIM:615378 GARD:0009740 OMIM:611819 OMIM:611494 OMIM:613980 OMIM:614049 OMIM:611493 DOID:0050650 OMIM:615377 OMIM:612240 OMIM:607554 OMIMPS:608583 SCTID:715395008 OMIM:608988 OMIM:613120 UMLS:CN204347 OMIM:608583 OMIM:612201" +MONDO:0018054 "An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular." "Orphanet:334 ICD10CM:I48.9 OMIM:614022 OMIM:614050 OMIM:613055 OMIM:615770 OMIM:615378 GARD:0009740 OMIM:611819 OMIM:611494 OMIM:613980 OMIM:614049 OMIM:611493 DOID:0050650 OMIM:615377 OMIM:612240 OMIM:607554 OMIMPS:608583 SCTID:715395008 OMIM:608988 OMIM:613120 UMLS:CN204347 OMIM:608583 OMIM:612201" MONDO:0000918 "An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding." "UMLS:C0014179 DOID:1002 SCTID:78623009 EFO:1001312 NCIT:C26764 MESH:D004716" -MONDO:0010183 "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner." "GARD:0003584 SCTID:80887004 Orphanet:79284 MESH:C564747 OMIM:277380 DOID:0050717 Orphanet:26 ICD10:E72.1" +MONDO:0010183 "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner." "GARD:0003584 SCTID:80887004 Orphanet:79284 MESH:C564747 OMIM:277380 DOID:0050717 ICD10CM:E72.1 Orphanet:26" MONDO:0006681 "Infections with bacteria of the genus borrelia." "MESH:D001899 MedDRA:10061591 UMLS:C0006035 EFO:1000842" UBERON:0010333 UBERON:0004439 @@ -35434,7 +35412,7 @@ UBERON:0003235 MONDO:0012707 "UMLS:C1968846 OMIM:611634 DOID:0111303 MESH:C566901" http://identifiers.org/hgnc/17073 MONDO:0060715 "OMIM:617994" -MONDO:0018686 "An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual." "ICD10:A81.0 UMLS:CN237752 Orphanet:454700 OMIM:123400 MESH:C538481" +MONDO:0018686 "An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual." "UMLS:CN237752 Orphanet:454700 OMIM:123400 ICD10CM:A81.0 MESH:C538481" CHEBI:26979 "An organic tricyclic compound in which at least one of the rings of the tricyclic skeleton contains one or more heteroatoms." http://identifiers.org/hgnc/15511 UBERON:8420000 @@ -35448,17 +35426,17 @@ UBERON:0004698 UBERON:0010334 MONDO:0014570 "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene." "OMIM:616287 Orphanet:2680 UMLS:C4225385" UBERON:0002037 -MONDO:0016553 "A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome." "Orphanet:238666 ICD10:E23.0 UMLS:CN924907" +MONDO:0016553 "A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome." "Orphanet:238666 ICD10CM:E23.0 UMLS:CN924907" MONDO:0010809 "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome)." "GARD:0010141 MESH:C536093 UMLS:C1838670 DOID:0060761 OMIM:600080" http://identifiers.org/hgnc/16974 MONDO:0015006 "Orphanet:508529 OMIM:617294 UMLS:C4310631" MONDO:0008124 "GARD:0004218 UMLS:C3277235 UMLS:C0795690 Orphanet:660 OMIM:164750" -MONDO:0013417 "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease." "MESH:C565169 UMLS:C3151071 NCIT:C9468 ICD10:D84.1 Orphanet:280133 OMIM:613779 DOID:8354 UMLS:C1332655" +MONDO:0013417 "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease." "MESH:C565169 ICD10CM:D84.1 NCIT:C9468 UMLS:C3151071 Orphanet:280133 OMIM:613779 DOID:8354 UMLS:C1332655" GO:0002376 "Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats." -MONDO:0019386 "A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age." "ICD10:B06.0+ ICD10:G05.1* UMLS:C1305924 Orphanet:83616 SCTID:10082001 https://en.wikipedia.org/wiki/Progressive_rubella_panencephalitis" -MONDO:0017401 "ICD10:I42.8 OMIM:107970 UMLS:CN203145 Orphanet:293888 OMIM:610193" +MONDO:0019386 "A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age." "ICD10EXP:B06.0+ UMLS:C1305924 ICD10EXP:G05.1* Orphanet:83616 SCTID:10082001 Wikipedia:Progressive_rubella_panencephalitis" +MONDO:0017401 "OMIM:107970 UMLS:CN203145 ICD10CM:I42.8 Orphanet:293888 OMIM:610193" MONDO:0009322 "OMIM:234300" -MONDO:0009092 "A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." "GARD:9921 ICD10:E75.2 ICD9:758.89 SCTID:702347001 DOID:0090112 UMLS:C1857316 GARD:0009921 OMIMPS:221770 Orphanet:2770" +MONDO:0009092 "A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." "GARD:9921 ICD9:758.89 SCTID:702347001 DOID:0090112 UMLS:C1857316 GARD:0009921 OMIMPS:221770 Orphanet:2770 OMIM:221770 ICD10CM:E75.2" http://identifiers.org/hgnc/14579 http://identifiers.org/hgnc/7739 NCBITaxon:6933 "GC_ID:1" @@ -35469,9 +35447,9 @@ MONDO:0014907 "OMIM:617088 UMLS:C4310724" MONDO:0014004 "OMIM:615007 UMLS:C3554321 Orphanet:1980" UBERON:0005631 MONDO:0009587 "MESH:C563087 OMIM:249670 UMLS:C0796057" -MONDO:0018600 "Orphanet:440233 ICD10:Q07.8" -MONDO:0016906 "Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "ICD10:Q93.5 GARD:0003765 Orphanet:262056 NCIT:C36408" -MONDO:0016203 "Orphanet:209902 ICD10:E78.0" +MONDO:0018600 "Orphanet:440233 ICD10CM:Q07.8" +MONDO:0016906 "Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "GARD:0003765 ICD10CM:Q93.5 Orphanet:262056 NCIT:C36408" +MONDO:0016203 "ICD10CM:E78.0 Orphanet:209902" GO:1901568 "The chemical reactions and pathways involving fatty acid derivative." MONDO:0100442 "A retinopathy caused by variants in the X-linked gene, RP2." UBERON:0010336 @@ -35484,9 +35462,9 @@ UBERON:0004699 http://identifiers.org/hgnc/14312 UBERON:0002036 MONDO:0015005 "UMLS:C4310632 OMIM:617290" -MONDO:0018189 "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts." "OMIM:614831 UMLS:CN204693 OMIM:616204 ICD10:G11.1 Orphanet:363429" +MONDO:0018189 "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts." "OMIM:614831 UMLS:CN204693 OMIM:616204 ICD10CM:G11.1 Orphanet:363429" MONDO:0011509 "OMIM:605028" -MONDO:0017402 "UMLS:CN203146 Orphanet:293899 OMIM:610193 OMIM:107970 ICD10:I42.8" +MONDO:0017402 "UMLS:CN203146 ICD10CM:I42.8 Orphanet:293899 OMIM:610193 OMIM:107970" MONDO:0044344 "An infection that is caused by Schistosoma japonicum." "SCTID:268058007 NCIT:C35001 MESH:D012554" MONDO:0002781 "Paralysis of the glossopharyngeal nerve." "NCIT:C27335 UMLS:C0919940 DOID:3816" MONDO:0008559 "The formation of a blood clot (thrombus) in the lumen of a vein." "ICD9:453.9 GARD:0010815 SCTID:111293003 UMLS:C0398623 OMIM:188050" @@ -35501,16 +35479,16 @@ http://identifiers.org/hgnc/17075 MONDO:0009586 "UMLS:C1855282 MESH:C565405 OMIM:249660" NCBITaxon:8492 "GC_ID:1" MONDO:0030885 "OMIM:619133" -MONDO:0015271 "Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology." "MESH:C537968 SCTID:13534001 MedDRA:10069646 ICD10:M43.8 GARD:0001063 Orphanet:1320" +MONDO:0015271 "Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology." "MESH:C537968 SCTID:13534001 MedDRA:10069646 GARD:0001063 Orphanet:1320 ICD10CM:M43.8" MONDO:0018863 UBERON:0010337 GO:0010877 "The directed movement of lipids into cells that is part of their accumulation and maintenance." -MONDO:0005100 "A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension." "Orphanet:90291 ICD10:M34.0 GARD:0009748 ICD10:M34.9 ICD9:710.1 MESH:D012595 UMLS:CN206012 DOID:418 ICD10:M34.8 SCTID:89155008 ICD10:M34.1 MedDRA:10042953 OMIM:181750 EFO:0000717 NCIT:C72070 ICD10:M34.2" +MONDO:0005100 "A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension." "Orphanet:90291 GARD:0009748 ICD10CM:M34.9 ICD9:710.1 ICD10CM:M34.0 MESH:D012595 UMLS:CN206012 DOID:418 ICD10CM:M34.8 ICD10CM:M34.2 SCTID:89155008 MedDRA:10042953 OMIM:181750 EFO:0000717 NCIT:C72070 ICD10CM:M34.1" HP:0002205 "An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections." "UMLS:C3806482" -MONDO:0001115 "Polycythemia that occurs in groups of related individuals." "NCIT:C26955 SCTID:17342003 ICD10:D75.0 OMIMPS:133100 DOID:10780 ICD9:289.6" +MONDO:0001115 "Polycythemia that occurs in groups of related individuals." "NCIT:C26955 SCTID:17342003 OMIMPS:133100 DOID:10780 ICD9:289.6" MONDO:0025030 "Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease." "MESH:D058066" -MONDO:0010098 "Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome." "SCTID:51744007 OMIM:272700 GARD:0005119 MESH:C536946 Orphanet:3289 HP:0000679 UMLS:C0266039 ICD10:K00.2" -MONDO:0018646 "A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure." "UMLS:C0566602 NCIT:C4828 EFO:0004268 DOID:14268 HP:0030991 Orphanet:447771 ICD10:K83.0 UMLS:C0008313 SCTID:235917005" +MONDO:0010098 "Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome." "SCTID:51744007 OMIM:272700 GARD:0005119 MESH:C536946 Orphanet:3289 ICD10CM:K00.2 HP:0000679 UMLS:C0266039" +MONDO:0018646 "A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure." "UMLS:C0566602 NCIT:C4828 EFO:0004268 ICD10CM:K83.0 DOID:14268 HP:0030991 Orphanet:447771 UMLS:C0008313 SCTID:235917005" MONDO:0013602 "Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene." "Orphanet:29072 UMLS:C3279992 OMIM:614165" MONDO:0006076 "A neuroblastoma arising from the adrenal gland." "DOID:5718 UMLS:C0559460 SCTID:281562007 NCIT:C4827 EFO:1000075" MONDO:0008122 @@ -35527,8 +35505,8 @@ HP:0010701 "An abnormal deviation from normal levels of immunoglobulins in blood MONDO:0014905 "OMIM:617086 Orphanet:485421 UMLS:C4310726" MONDO:0012048 "Depression which is considered strictly biological." "NCIT:C34532 NCIT:C35094 EFO:0003761 MESH:D003866 SCTID:300706003 DOID:1595" UBERON:0005899 -MONDO:0009585 "OMIM:249650 UMLS:C0796055 GARD:0000654 ICD10:E72.1 MESH:C563085 Orphanet:1035" -MONDO:0007051 "Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome." "SCTID:720456009 ICD10:Q87.0 GARD:0000501 Orphanet:965 UMLS:C0796280 MESH:C535655 OMIM:102150" +MONDO:0009585 "OMIM:249650 UMLS:C0796055 GARD:0000654 MESH:C563085 ICD10CM:E72.1 Orphanet:1035" +MONDO:0007051 "Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome." "SCTID:720456009 GARD:0000501 Orphanet:965 UMLS:C0796280 MESH:C535655 OMIM:102150" MONDO:0008121 "UMLS:C1833997 MESH:C563506 OMIM:164680" MONDO:0011237 "Any familial combined hyperlipidemia in which the cause of the disease is a mutation in the USF1 gene." "UMLS:C1865289 OMIM:602491 MESH:C566535" HsapDv:0000101 "Child stage that refers to a child who is over 7 and under 8 years old." @@ -35542,12 +35520,12 @@ MONDO:0015969 "OBSOLETE. Rare genetic thyroid disease." "Orphanet:183631 UMLS:CN GO:0060082 "The reflex process in which a mechanical stimulus applied to the eye elicits a response of the eyelid closing." MONDO:0013908 "Orphanet:79102 OMIM:614834" ECTO:0001152 "An exposure to organochlorine compound." -MONDO:0003569 "A neoplastic or non-neoplastic disorder that affects one of the cranial nerves." "NCIT:C26733 UMLS:C0010266 ICD10:G52.9 DOID:5656 ICD9:352.9 MESH:D003389 SCTID:73013002" -MONDO:0010395 "Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity)." "MESH:C567064 ICD10:E79.8 UMLS:C1970827 OMIM:300661 SCTID:723454008 Orphanet:3222 DOID:0111260" +MONDO:0003569 "A neoplastic or non-neoplastic disorder that affects one of the cranial nerves." "NCIT:C26733 UMLS:C0010266 DOID:5656 ICD9:352.9 MESH:D003389 SCTID:73013002" +MONDO:0010395 "Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity)." "ICD10CM:E79.8 MESH:C567064 UMLS:C1970827 OMIM:300661 SCTID:723454008 Orphanet:3222 DOID:0111260" FOODON:03430150 -MONDO:0017666 "HP:0007435 UMLS:C0022584 ICD10:Q82.8 Orphanet:307141 ICD9:757.39 SCTID:400123002" +MONDO:0017666 "HP:0007435 UMLS:C0022584 ICD10CM:Q82.8 Orphanet:307141 ICD9:757.39 SCTID:400123002" MONDO:0015003 "Orphanet:508093 OMIM:617282 UMLS:C4310634" -MONDO:0020384 "Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease." "Orphanet:99022 ICD10:E75.2 SCTID:73399005 OMIM:607616" +MONDO:0020384 "Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease." "Orphanet:99022 ICD10CM:E75.2 SCTID:73399005 OMIM:607616" UBERON:0003497 GO:0046467 "The chemical reactions and pathways resulting in the formation of membrane lipids, any lipid found in or associated with a biological membrane." UBERON:0007196 @@ -35570,29 +35548,29 @@ UBERON:0002299 MONDO:0008128 "UMLS:C1833839 OMIM:165000 MESH:C563500" MONDO:0000888 "Inflammation of the mucous membranes lining the gastrointestinal tract." "ICD9:538 UMLS:C0521585 MESH:D052016 ICD9:558.9 SCTID:95518006 DOID:0080178 NCIT:C3853" MONDO:0013909 "OMIM:614836" -MONDO:0011765 "Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission." "DOID:0070299 MESH:C535505 UMLS:C1846843 SCTID:715674008 ICD10:Q77.3 OMIM:607078 UMLS:C4275060 Orphanet:93311 GARD:0009794" +MONDO:0011765 "Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission." "ICD10CM:Q77.3 DOID:0070299 MESH:C535505 UMLS:C1846843 SCTID:715674008 OMIM:607078 UMLS:C4275060 Orphanet:93311 GARD:0009794" SO:0000325 "A primary transcript encoding a large ribosomal subunit RNA." ENVO:01001357 "A landform which has been rendered barren or partially barren by environmental extremes, especially by low rainfall." MONDO:0017663 "Orphanet:307061 UMLS:CN227173 Orphanet:307064 UMLS:CN227174" NCBITaxon:6937 "GC_ID:1" -MONDO:0001431 "A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency." "ICD10:H46.2 UMLS:C0155302 SCTID:82108004 DOID:1209 ICD9:377.33" +MONDO:0001431 "A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency." "UMLS:C0155302 SCTID:82108004 DOID:1209 ICD10CM:H46.2 ICD9:377.33" MONDO:0004243 "An epithelioid sarcoma of the proximal type involving the vulva." "DOID:7491 NCIT:C40319 UMLS:C1520093" ENVO:01001698 "A weather front which separates air masses of tropical and polar origin."@en http://identifiers.org/hgnc/26790 UBERON:0002033 -MONDO:0007337 "Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." "SCTID:403772000 Orphanet:2016 MESH:C563047 ICD10:Q87.8 DOID:0080313 OMIM:119550 GARD:0001391 ICD9:759.89 UMLS:C0795898" +MONDO:0007337 "Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." "SCTID:403772000 Orphanet:2016 MESH:C563047 DOID:0080313 ICD10CM:Q87.8 OMIM:119550 GARD:0001391 ICD9:759.89 UMLS:C0795898" HP:0000478 "Any abnormality of the eye, including location, spacing, and intraocular abnormalities." "MSH:D005124 UMLS:C0015397 UMLS:C0015393 SNOMEDCT_US:371409005 MSH:D005128 SNOMEDCT_US:371405004 SNOMEDCT_US:19416009" GO:0019902 "Binding to a phosphatase." -MONDO:0014117 "Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss)." "UMLS:C3695063 SCTID:763345008 ICD10:G60.0 Orphanet:363981 OMIM:615284 DOID:0110194" +MONDO:0014117 "Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss)." "UMLS:C3695063 SCTID:763345008 ICD10CM:G60.0 Orphanet:363981 OMIM:615284 DOID:0110194" GO:0045621 "Any process that activates or increases the frequency, rate or extent of lymphocyte differentiation." -MONDO:0008919 "Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." "ICD9:277.82 OMIM:212140 GARD:0005104 ICD10:E71.3 DOID:14365 SCTID:21764004 ICD9:277.81 ICD10:E71.42 MESH:C536778 Orphanet:158 ICD10:E71.41 NCIT:C98864 UMLS:C0342788" -MONDO:0010822 "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene." "Orphanet:2510 ICD10:Q87.0 OMIM:600118 DOID:0110716" -MONDO:0011094 "A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2." "Orphanet:154 ICD10:I42.0 MESH:C563307 Orphanet:54260 OMIM:601493 DOID:0110423 NCIT:C170436" +MONDO:0008919 "Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." "ICD9:277.82 OMIM:212140 GARD:0005104 DOID:14365 SCTID:21764004 ICD9:277.81 MESH:C536778 ICD10CM:E71.3 Orphanet:158 NCIT:C98864 UMLS:C0342788" +MONDO:0010822 "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene." "Orphanet:2510 OMIM:600118 DOID:0110716" +MONDO:0011094 "A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2." "ICD10CM:I42.0 Orphanet:154 MESH:C563307 Orphanet:54260 OMIM:601493 DOID:0110423 NCIT:C170436" MONDO:0003027 "A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter." "UMLS:C1336748 DOID:4514 NCIT:C6043" -MONDO:0016719 "Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males." "GARD:0003632 UMLS:C2931529 ICD10:Q87.8 MESH:C537544 Orphanet:2519" +MONDO:0016719 "Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males." "GARD:0003632 UMLS:C2931529 MESH:C537544 Orphanet:2519 ICD10CM:Q87.8" MONDO:0014008 "OMIM:615011 UMLS:C3554344" MONDO:0016465 -MONDO:0012000 "An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable." "OMIM:608251 SCTID:54587008 ICD9:300.29 NCIT:C35284 EFO:1001918 MESH:C562465 DOID:599 ICD10:F40.2" +MONDO:0012000 "An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable." "OMIM:608251 SCTID:54587008 ICD9:300.29 NCIT:C35284 EFO:1001918 MESH:C562465 DOID:599" ENVO:09200001 "The temperature of some air." GO:0045824 "Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response." MONDO:0018862 @@ -35610,14 +35588,14 @@ MONDO:0017664 MONDO:0009325 UBERON:0007195 UBERON:0004695 -MONDO:0005349 "Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs." "OMIM:608484 Orphanet:2794 ICD10:H80.8 OMIM:615589 HP:0000362 OMIMPS:166800 MESH:D010040 OMIM:605727 ICD10:H80.80 OMIM:166800 OMIM:612096 SCTID:11543004 ICD9:387.9 ICD9:387 OMIM:611572 ICD9:387.8 OMIM:611571 DOID:12185 OMIM:608244 UMLS:C0029899 EFO:0004213" +MONDO:0005349 "Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs." "OMIM:608484 Orphanet:2794 OMIM:615589 HP:0000362 OMIMPS:166800 MESH:D010040 OMIM:605727 OMIM:166800 OMIM:612096 SCTID:11543004 ICD9:387.9 ICD9:387 OMIM:611572 ICD9:387.8 OMIM:611571 DOID:12185 OMIM:608244 UMLS:C0029899 EFO:0004213" UBERON:0003233 UBERON:0003499 http://identifiers.org/hgnc/15517 MONDO:0006345 "A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males." "SCTID:203045001 EFO:1000438 HP:0005679 EFO:0004229 MESH:D004387 NCIT:C3469 SCTID:274142002" http://identifiers.org/hgnc/8931 MONDO:0060713 "MESH:C566604 OMIM:617992" -MONDO:0001600 "A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction." "ICD10:K11.6 MESH:D011900 NCIT:C27649 ICD9:527.6 SCTID:69825009 DOID:12904 UMLS:C2242813 UMLS:C0026686" +MONDO:0001600 "A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction." "MESH:D011900 NCIT:C27649 ICD10CM:K11.6 ICD9:527.6 SCTID:69825009 DOID:12904 UMLS:C2242813 UMLS:C0026686" MONDO:0023682 "A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss." "GTR:AN0102047 NCIT:C8428 UMLS:C0474820 SCTID:253031000 MESH:D043604 GTR:AN0102048" UBERON:0004696 MONDO:0008126 "OMIM:164891" @@ -35626,30 +35604,30 @@ GO:0044437 "OBSOLETE. Any constituent part of a vacuole, a closed structure, fou MONDO:0015266 NCBITaxon:6935 "GC_ID:1" MONDO:0017661 "UMLS:CN203548 Orphanet:307055" -MONDO:0009861 "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." "GARD:0007383 Orphanet:2209 ICD10:E70.1 OMIM:261600 DOID:9281 SCTID:7573000 MedDRA:10034872 NCIT:C81315 Orphanet:716 MESH:D010661 ICD10:E70.0 UMLS:C0031485 ICD9:270.1" +MONDO:0009861 "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." "GARD:0007383 ICD10CM:E70.1 Orphanet:2209 OMIM:261600 DOID:9281 SCTID:7573000 MedDRA:10034872 NCIT:C81315 ICD10CM:E70.0 Orphanet:716 MESH:D010661 UMLS:C0031485 ICD9:270.1" MONDO:0000606 "OBSOLETE. A allergy involving gluten." "DOID:0060057" CL:0000845 "A mature B cell that is located in the marginal zone of the spleen with the phenotype CD23-negative and CD21-positive and expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL. This cell type is also described as being CD19-positive, B220-positive, IgM-high, AA4-negative, CD35-high." UBERON:0003498 CHEBI:50905 "A role played by a chemical compound in biological systems with adverse consequences in embryo developments, leading to birth defects, embryo death or altered development, growth retardation and functional defect." MONDO:0006194 "OBSOLETE. A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." GO:0030104 "Any process involved in the maintenance of an internal steady state of water within an organism or cell." -MONDO:0008180 "Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech." "Orphanet:2291 ICD10:J39.2 MESH:D014681 GARD:0005470 UMLS:C0042454 OMIM:167500" -MONDO:0002081 "A disease involving the musculoskeletal system." "UMLS:C0026857 NCIT:C107377 SCTID:928000 ICD9:729.99 DOID:17 MESH:D009140" +MONDO:0008180 "Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech." "Orphanet:2291 MESH:D014681 GARD:0005470 UMLS:C0042454 ICD10CM:J39.2 OMIM:167500" +MONDO:0002081 "A disease involving the musculoskeletal system." "ICD10CM:Q65-Q79 ICD10CM:M95-M95 UMLS:C0026857 NCIT:C107377 SCTID:928000 ICD9:729.99 ICD10CM:M00-M99 MESH:D009140 DOID:17" MONDO:0008138 "Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." "UMLS:C4273912 UMLS:C1833795 MESH:C563490 OMIM:165600 SCTID:717337001 Orphanet:98606" MONDO:0100476 "An inherited susceptibility or predisposition to developing aquired partial lipodystrophy." "UMLS:C3887501 OMIM:608709" -MONDO:0001462 "A malignant neoplasm involving the descending colon." "ICD9:153.2 SCTID:363409003 DOID:12190 ICD10:C18.6 UMLS:C0153435" +MONDO:0001462 "A malignant neoplasm involving the descending colon." "ICD9:153.2 SCTID:363409003 DOID:12190 UMLS:C0153435" UBERON:0003232 MONDO:0060712 "OMIM:617991 UMLS:CN248510" http://identifiers.org/hgnc/6535 http://identifiers.org/hgnc/15516 -MONDO:0017902 "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." "Orphanet:319574 UMLS:CN203961 ICD10:D84.8 OMIM:614889" -MONDO:0015995 "Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." "GARD:0003800 UMLS:C2931505 ICD10:M85.8 GARD:0003690 Orphanet:1879 UMLS:CN200621" +MONDO:0017902 "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." "Orphanet:319574 UMLS:CN203961 ICD10CM:D84.8 OMIM:614889" +MONDO:0015995 "Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities." "GARD:0003800 UMLS:C2931505 ICD10CM:M85.8 GARD:0003690 Orphanet:1879 UMLS:CN200621" MONDO:0041879 "An pneumonia caused by infection with Staphylococcus aureus." "SCTID:441658007" MONDO:0008125 "DOID:0080083 UMLS:C1833909 OMIM:164800 MESH:C563503" NCBITaxon:6934 "GC_ID:1" CL:0000547 "An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." "FMA:83518" -MONDO:0011621 "Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36." "UMLS:C1853812 GARD:0008485 Orphanet:85203 SCTID:720412009 MESH:C535664 ICD10:Q74.0 OMIM:605967" -MONDO:0008704 "Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." "OMIM:200900 ICD10:D82.2 GARD:0000463 MESH:C565984 GARD:0002988 Orphanet:935 UMLS:C1860168" +MONDO:0011621 "Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36." "ICD10CM:Q74.0 UMLS:C1853812 GARD:0008485 Orphanet:85203 SCTID:720412009 MESH:C535664 OMIM:605967" +MONDO:0008704 "Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." "OMIM:200900 GARD:0000463 MESH:C565984 GARD:0002988 Orphanet:935 UMLS:C1860168" MONDO:0003193 "A carcinoma that arises from glandular epithelial cells of the bile duct" "NCIT:C27813 DOID:4896 UMLS:C1370800" MONDO:0009323 "MESH:C562477 SCTID:235873001 OMIM:234350 UMLS:C0241913" MONDO:0005785 "Infections with viruses of the genus henipavirus, family paramyxoviridae." "EFO:0007300 MESH:D045464" @@ -35657,11 +35635,11 @@ UBERON:0004431 MONDO:0017662 "UMLS:CN203549 Orphanet:307058" MONDO:0024330 "Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space." "UMLS:C0271429 NCIT:C84354 UMLS:C2827407" MONDO:0016406 "UMLS:CN201333 Orphanet:225713" -MONDO:0010268 "X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit." "SCTID:717632002 ICD10:Q04.3 GARD:0012491 OMIM:300215 Orphanet:452 MESH:C564563" -MONDO:0007846 "KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay." "MESH:C537015 GARD:0000082 OMIM:148050 SCTID:711156009 DOID:14780 ICD10:Q87.8 UMLS:C0220687 Orphanet:2332 ICD9:759.89" +MONDO:0010268 "X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit." "SCTID:717632002 GARD:0012491 OMIM:300215 Orphanet:452 MESH:C564563 ICD10CM:Q04.3" +MONDO:0007846 "KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay." "MESH:C537015 GARD:0000082 OMIM:148050 SCTID:711156009 DOID:14780 UMLS:C0220687 Orphanet:2332 ICD9:759.89 ICD10CM:Q87.8" UBERON:0015418 CHEBI:27207 "A univalent carboacyl group is a group formed by loss of OH from the carboxy group of a carboxylic acid." -MONDO:0014067 "ICD10:Q87.8 OMIM:615162 UMLS:C3554609 Orphanet:357175" +MONDO:0014067 "OMIM:615162 UMLS:C3554609 ICD10CM:Q87.8 Orphanet:357175" UBERON:0000951 http://identifiers.org/hgnc/12370 MONDO:0043168 "UMLS:C2931430 OMIM:174800 MESH:C537164 GARD:0004213" @@ -35669,34 +35647,34 @@ GO:2000825 "Any process that activates or increases the frequency, rate or exten MONDO:0005671 "Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue." "EFO:0007173 SCTID:721809007 MESH:D016776" MONDO:0001987 "ICD9:331.2 DOID:14524 UMLS:C0154669 SCTID:45864009" GO:1905084 "Any process that activates or increases the frequency, rate or extent of mitochondrial translational elongation." -MONDO:0012345 "Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." "SCTID:709416009 ICD10:Q80.8 GARD:0012863 UMLS:C1853354 Orphanet:263534 OMIM:609796 MESH:C536316" -MONDO:0001721 "ICD10:N36.42 ICD9:599.82 DOID:13461 UMLS:C0375381" +MONDO:0012345 "Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." "SCTID:709416009 GARD:0012863 UMLS:C1853354 Orphanet:263534 OMIM:609796 MESH:C536316 ICD10CM:Q80.8" +MONDO:0001721 "ICD9:599.82 DOID:13461 UMLS:C0375381" UBERON:0011977 MONDO:0004480 MONDO:0010109 "MESH:C536496 GARD:0005146 OMIM:273390 GARD:0003348" http://identifiers.org/hgnc/19693 -MONDO:0001407 "A malignant neoplasm involving the trachea" "SCTID:363432004 NCIT:C9346 UMLS:C0153489 ICD9:162.0 DOID:11920 ICD10:C33" +MONDO:0001407 "A malignant neoplasm involving the trachea" "SCTID:363432004 NCIT:C9346 ICD10CM:C33 UMLS:C0153489 ICD9:162.0 DOID:11920" GO:0002891 "Any process that activates or increases the frequency, rate, or extent of an immunoglobulin mediated immune response." MONDO:0003701 "A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration." "UMLS:C0334330 NCIT:C7427 UMLS:C1321862 ICDO:8350/3 DOID:5914" MONDO:0018802 MONDO:0005561 "Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)" "SCTID:47040006 MESH:D001018 ICD9:447.9 UMLS:C0003493 DOID:520 NCIT:C101253 EFO:0005775" CL:0002000 "An erythroid progenitor cell is Kit-positive, Ly6A-negative, CD41-negative, CD127-negative, and CD123-negative. This cell type is also described as being lin-negative, Kit-positive, CD150-negative, CD41-negative, CD105-positive, and FcgR-negative." -MONDO:0020395 "A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow)." "Orphanet:99054 MedDRA:10037450 ICD10:Q22.1 ICD9:746.02" -MONDO:0001989 "ICD9:529.4 DOID:1453 ICD10:K14.4 UMLS:C0155964 SCTID:9491003" +MONDO:0020395 "A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow)." "Orphanet:99054 MedDRA:10037450 ICD10CM:Q22.1 ICD9:746.02" +MONDO:0001989 "ICD9:529.4 DOID:1453 ICD10CM:K14.4 UMLS:C0155964 SCTID:9491003" MONDO:0016405 "UMLS:CN226918 Orphanet:225710" -MONDO:0018037 "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections." "ICD10:D82.4 OMIMPS:147060 NCIT:C3144 GARD:0010956 UMLS:CN204280 Orphanet:331223 DOID:0080545" +MONDO:0018037 "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections." "OMIM:147060 OMIMPS:147060 OMIM:243700 NCIT:C3144 GARD:0010956 UMLS:CN204280 Orphanet:331223 DOID:0080545" MONDO:0020152 "Orphanet:98561" MONDO:0013703 "OMIM:614341 UMLS:C3280539 Orphanet:88616" MONDO:0000523 http://identifiers.org/hgnc/30000 GO:0060101 "Any process that stops, prevents, or reduces the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis." -MONDO:0013847 "Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life." "DOID:0060430 OMIM:614671 GARD:0012388 SCTID:765142003 Orphanet:370079 UMLS:C3553407 ICD10:Q92.3" +MONDO:0013847 "Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life." "DOID:0060430 OMIM:614671 GARD:0012388 SCTID:765142003 Orphanet:370079 UMLS:C3553407" http://identifiers.org/hgnc/12371 MONDO:0004354 "Leukemia that occurs during the neonatal period." "NCIT:C3845 UMLS:C0235813 DOID:7756" MONDO:0013704 "OMIM:614342 Orphanet:88616 UMLS:C3280540" -MONDO:0001625 "A ovarian cyst (disease) that involves the corpus luteum." "DOID:13050 ICD10:N83.1 SCTID:386762009 ICD9:620.1" -MONDO:0015531 "Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES)." "DOID:4330 MESH:D015616 SCTID:127069007 GARD:0008231 ICD10:D76.3 UMLS:C0019624 ICD9:288.4 Orphanet:157987" -MONDO:0001988 "DOID:14529 ICD10:K03.3 SCTID:41918006 ICD9:521.42 UMLS:C0266878" +MONDO:0001625 "A ovarian cyst (disease) that involves the corpus luteum." "ICD10CM:N83.1 DOID:13050 SCTID:386762009 ICD9:620.1" +MONDO:0015531 "Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES)." "DOID:4330 ICD10CM:D76.3 MESH:D015616 SCTID:127069007 GARD:0008231 UMLS:C0019624 ICD9:288.4 Orphanet:157987" +MONDO:0001988 "DOID:14529 SCTID:41918006 ICD9:521.42 UMLS:C0266878" MONDO:0001722 "DOID:13473 SCTID:43300008 UMLS:C0155156 ICD9:372.43" UBERON:0011978 MONDO:0045036 "A characteristic of an infectious disease in which the disease affects an immunologically normal host." @@ -35705,39 +35683,38 @@ GO:0034655 "The chemical reactions and pathways resulting in the breakdown of nu MONDO:0015869 "OBSOLETE. Any of the forms of breast benign neoplasm that have a rare incidence." "Orphanet:180253" UBERON:0016879 MONDO:0016404 "Orphanet:225707" -MONDO:0019355 "A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash." "Orphanet:829 SCTID:239920006 MedDRA:10058493 GARD:0000436 UMLS:C0085253 ICD9:759.89 DOID:14256 ICD9:714.2 MedDRA:10064056 UMLS:CN206037 EFO:0007135 ICD10:M06.1 SCTID:68190001 MESH:D016706" +MONDO:0019355 "A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash." "Orphanet:829 SCTID:239920006 MedDRA:10058493 GARD:0000436 UMLS:C0085253 ICD9:759.89 DOID:14256 ICD9:714.2 MedDRA:10064056 UMLS:CN206037 EFO:0007135 SCTID:68190001 MESH:D016706" MONDO:0000522 -MONDO:0014069 "Orphanet:357332 OMIM:615170 ICD10:Q87.2 UMLS:C3554611" -MONDO:0003282 "SCTID:79883001 MESH:D010048 DOID:5119 HP:0000138 ICD9:620.2 ICD10:N83.2" +MONDO:0014069 "Orphanet:357332 OMIM:615170 UMLS:C3554611 ICD10CM:Q87.2" +MONDO:0003282 "SCTID:79883001 MESH:D010048 DOID:5119 HP:0000138 ICD9:620.2" UBERON:0009549 CL:0002050 "A pre-BCR-positive precursor B cell that is CD24-high, CD25-positive, CD43-positive, CD45R-positive and BP-positive." -MONDO:0005681 -MONDO:0010210 "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene." "Orphanet:910 ICD10:Q82.1 Orphanet:276249 OMIM:278700 NCIT:C3965 GARD:0005624 DOID:0110843 SCTID:43477006 UMLS:C0268135" +MONDO:0010210 "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene." "Orphanet:910 Orphanet:276249 OMIM:278700 NCIT:C3965 GARD:0005624 DOID:0110843 SCTID:43477006 ICD10CM:Q82.1 UMLS:C0268135" UBERON:0001051 MONDO:0043166 "MESH:C535839 UMLS:C2931040 GARD:0004208" NCBITaxon:6939 "GC_ID:1" -MONDO:0006965 "Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" "DOID:10393 SCTID:203357004 ICD10:M89.4 EFO:1001174 MESH:D010005 ICD9:731.2 UMLS:C0029412" +MONDO:0006965 "Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" "DOID:10393 SCTID:203357004 EFO:1001174 MESH:D010005 ICD9:731.2 UMLS:C0029412" MONDO:0013705 "Orphanet:88616 UMLS:C3280541 OMIM:614343" -MONDO:0015206 "UMLS:C2931050 Orphanet:1088 ICD10:Q87.1 GARD:0004739 MESH:C535871" +MONDO:0015206 "UMLS:C2931050 Orphanet:1088 GARD:0004739 MESH:C535871 ICD10CM:Q87.1" UBERON:0011979 MONDO:0008676 "Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene." "OMIM:193900 Orphanet:171723 UMLS:C1721005 UMLS:C4011926" MONDO:0022453 "An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node." "GARD:0008313 UMLS:C2959445" MONDO:0002084 -MONDO:0016518 "A punctate palmoplantar keratoderma that is not part of a larger syndrome." "ICD10:Q82.8 Orphanet:2338" +MONDO:0016518 "A punctate palmoplantar keratoderma that is not part of a larger syndrome." "ICD10CM:Q82.8 Orphanet:2338" ENVO:00002008 "Minute solid particles with diameters less than 500 micrometers. Occurs in and may be deposited from, the atmosphere." GO:0099170 "Any process, acting in the postsynapse that results in modulation of chemical synaptic transmission." MONDO:0006799 "A primary or metastatic neoplasm that affects the hypothalamus." "EFO:1000979 UMLS:C0020659 DOID:3644 SCTID:254968009 MESH:D007029 NCIT:C3129" GO:0033683 "A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound." -MONDO:0013977 "Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive." "SCTID:763110007 ICD10:G71.3 UMLS:C3554129 DOID:0111467 OMIM:614932 Orphanet:319514" +MONDO:0013977 "Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive." "SCTID:763110007 UMLS:C3554129 DOID:0111467 OMIM:614932 Orphanet:319514 ICD10CM:G71.3" MONDO:0043731 "Dissolution of bone that particularly involves the removal or loss of calcium." "EFO:1001821 NCIT:C35371 SCTID:203522001 MESH:D010014" GO:0051590 "Any process that activates or increases the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." MONDO:0016403 "Orphanet:225703 UMLS:CN201332" CL:0000623 "A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." "FMA:63147 BTO:0004716 VHOG:0001697 BTO:0000914 CALOHA:TS-0664 FMA:83601" -MONDO:0020154 "ICD10:Q10.3 UMLS:CN237783 Orphanet:98563" -MONDO:0016669 "GARD:0006584 ICD10:D57.2 UMLS:C0019034 Orphanet:251365 MedDRA:10057072" +MONDO:0020154 "ICD10CM:Q10.3 UMLS:CN237783 Orphanet:98563" +MONDO:0016669 "GARD:0006584 ICD10CM:D57.2 UMLS:C0019034 Orphanet:251365 MedDRA:10057072" http://identifiers.org/hgnc/19691 NCBITaxon:1783257 "PMID:23851394 GC_ID:11 PMID:24185849 PMID:16704931" -MONDO:0012927 "1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." "GARD:0003738 ICD10:Q93.5 UMLS:C4274528 OMIM:612530 Orphanet:2162 DOID:0060412 Orphanet:250999 UMLS:C2675857 SCTID:716515000" +MONDO:0012927 "1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." "SCTID:716515000 ICD10CM:Q93.5 OMIM:612530 UMLS:C2675857 Orphanet:250999 GARD:0003738 Orphanet:2162 DOID:0060412 UMLS:C4274528" MONDO:0012029 "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene." "MESH:C564247 OMIM:608393 DOID:0070290 UMLS:C1842109" MONDO:0013153 "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene." "UMLS:C2751053 DOID:0110899 Orphanet:238569 MESH:C567728 OMIM:613148" CHEBI:15372 @@ -35745,39 +35722,39 @@ http://identifiers.org/hgnc/195 MONDO:0003070 "An infection of the lymph nodes in the axilla." "NCIT:C27333 DOID:4640 UMLS:C0919797" MONDO:0019166 MONDO:0013706 "OMIM:614344 UMLS:C3280542" -MONDO:0011309 "UMLS:C1863959 MESH:C566384 ICD9:242.80 Orphanet:99819 OMIM:603373 ICD10:E05.8 ICD9:648.10 SCTID:703309000" +MONDO:0011309 "UMLS:C1863959 ICD10CM:E05.8 MESH:C566384 ICD9:242.80 Orphanet:99819 OMIM:603373 ICD9:648.10 SCTID:703309000" GO:0016108 "The chemical reactions and pathways involving tetraterpenoid compounds, terpenoids with eight isoprene units." -MONDO:0001986 "ICD10:H57.01 DOID:14523 ICD9:379.45 UMLS:C0155375 SCTID:21011008" +MONDO:0001986 "DOID:14523 ICD9:379.45 UMLS:C0155375 ICD10CM:H57.01 SCTID:21011008" CL:0011115 "A cell that, by division or terminal differentiation, can give rise to other cell types." -MONDO:0002085 "DOID:1713 ICD10:G25.83 ICD9:333.93 UMLS:C0375200 SCTID:446995005" +MONDO:0002085 "DOID:1713 ICD9:333.93 ICD10CM:G25.83 UMLS:C0375200 SCTID:446995005" GO:0006744 "The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme." -MONDO:0012980 "Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality." "UMLS:C2675227 Orphanet:199332 DOID:0060641 SCTID:723309006 UMLS:C4509819 ICD10:Q87.8 OMIM:612651 MESH:C567210" +MONDO:0012980 "Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality." "UMLS:C2675227 Orphanet:199332 DOID:0060641 SCTID:723309006 UMLS:C4509819 ICD10CM:Q87.8 OMIM:612651 MESH:C567210" GO:0060632 "Any process that modulates the rate, frequency, or extent of microtubule-based movement, the movement of organelles, other microtubules and other particles along microtubules, mediated by motor proteins." UBERON:0016611 GO:0019752 "The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-)." MONDO:0016402 "Orphanet:225700 UMLS:CN201331" -MONDO:0007627 "Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia." "ICD10:Q82.8 UMLS:CN776929 Orphanet:398166 OMIM:136500 Orphanet:79133 GARD:0008416" +MONDO:0007627 "Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia." "ICD10CM:Q82.8 UMLS:CN776929 Orphanet:398166 OMIM:136500 Orphanet:79133 GARD:0008416" NCBITaxon:376913 "GC_ID:1" GO:0002706 "Any process that modulates the frequency, rate, or extent of lymphocyte mediated immunity." ENVO:01000646 "A lithosphere is the outermost shell of a terrestrial-type planet or natural satellite that is defined by its rigid mechanical properties." ENVO:00001995 "A rock is a naturally occurring solid aggregate of one or more minerals or mineraloids." MONDO:0012175 "A cataract that has material basis in variation in the region 6p12-q12." "MESH:C563812 UMLS:C1836942 DOID:0110244 OMIM:609026" -MONDO:0013061 "Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly." "MESH:C567843 ICD10:G71.8 DOID:0080097 Orphanet:199340 OMIM:612954" +MONDO:0013061 "Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly." "MESH:C567843 ICD10CM:G71.8 DOID:0080097 Orphanet:199340 OMIM:612954" GO:0007159 "The attachment of a leukocyte to another cell via adhesion molecules." MONDO:0013707 "OMIM:614345 UMLS:C3280543" -MONDO:0015010 "Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." "Orphanet:289863 OMIM:617301 UMLS:C4310943 ICD10:E72.5" +MONDO:0015010 "Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." "Orphanet:289863 OMIM:617301 UMLS:C4310943 ICD10CM:E72.5" MONDO:0024571 "A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome." "NCIT:C4991 UMLS:C0877121" -MONDO:0001983 "ICD10:H18.46 DOID:14507 UMLS:C0155123 ICD9:371.48 SCTID:89182000" +MONDO:0001983 "DOID:14507 UMLS:C0155123 ICD9:371.48 SCTID:89182000" MONDO:0043164 "Orphanet:2184 UMLS:C2931734 GARD:0004199 MESH:C538107" -MONDO:0016453 "Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs." "UMLS:C1739094 ICD9:005.1 NCIT:C128341 Orphanet:228371 SCTID:398523009 ICD10:A05.1 DOID:0050352" +MONDO:0016453 "Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs." "UMLS:C1739094 ICD9:005.1 NCIT:C128341 Orphanet:228371 SCTID:398523009 DOID:0050352 ICD10CM:A05.1" UBERON:0016612 -MONDO:0016667 "ICD10:D57.2 UMLS:CN201907 GARD:0012459 Orphanet:251355" -MONDO:0014070 "Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." "DOID:0070100 UMLS:C3808786 OMIM:615179 SCTID:722059002 Orphanet:352745 UMLS:CN204524 ICD10:E70.3" +MONDO:0016667 "UMLS:CN201907 GARD:0012459 Orphanet:251355" +MONDO:0014070 "Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." "DOID:0070100 UMLS:C3808786 OMIM:615179 SCTID:722059002 ICD10CM:E70.3 Orphanet:352745 UMLS:CN204524" CHEBI:60027 "A polymer is a mixture, which is composed of macromolecules of different kinds and which may be differentiated by composition, length, degree of branching etc.." MONDO:0016401 "UMLS:CN226915 Orphanet:225696" MONDO:0013708 "OMIM:614346 UMLS:C3280544" -MONDO:0015203 "ICD10:Q24.5 MedDRA:10061060 Orphanet:1081" -MONDO:0017866 "Orphanet:3190 SCTID:448476001 UMLS:C3165028 GARD:0005051 ICD10:Q24.3" +MONDO:0015203 "MedDRA:10061060 Orphanet:1081" +MONDO:0017866 "Orphanet:3190 SCTID:448476001 UMLS:C3165028 GARD:0005051" MONDO:0015187 "OBSOLETE. Rare inflammatory bowel disease." "Orphanet:104012" MONDO:0100091 "An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician." "GARD:0009643" MONDO:0021116 "A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis." "NCIT:C53554 UMLS:C3642345" @@ -35792,33 +35769,33 @@ MONDO:0016666 "UMLS:CN201905 Orphanet:251332" MONDO:0019163 MONDO:0016400 "Orphanet:225692 UMLS:CN226914" GO:0042068 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pteridine." -MONDO:0015468 "UMLS:CN226684 Orphanet:1530 ICD10:Q75.0" +MONDO:0015468 "UMLS:CN226684 Orphanet:1530 ICD10CM:Q75.0" http://identifiers.org/hgnc/12372 MONDO:0013709 "OMIM:614347 UMLS:C3280545" -MONDO:0008592 "Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull." "GARD:0007799 MESH:C536549 GARD:0005252 OMIM:190320 DOID:0111565 SCTID:38993008 Orphanet:3352 ICD9:759.89 ICD10:Q82.4" +MONDO:0008592 "Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull." "GARD:0007799 MESH:C536549 GARD:0005252 OMIM:190320 DOID:0111565 SCTID:38993008 Orphanet:3352 ICD9:759.89 ICD10CM:Q82.4" http://identifiers.org/hgnc/33867 MONDO:0015202 MONDO:0001981 MONDO:0043162 "GARD:0004195 UMLS:C2931733 MESH:C538100" NCBITaxon:2842321 "GC_ID:1" MONDO:0020150 -MONDO:0016665 "ICD10:M31.8 Orphanet:251328" +MONDO:0016665 "Orphanet:251328 ICD10CM:M31.8" ENVO:01000321 "An environmental system determined by seawater." http://identifiers.org/hgnc/29017 -MONDO:0011835 "A syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia." "Orphanet:402082 UMLS:CN226157 OMIM:613832 UMLS:C1843851 Orphanet:254881 OMIM:607459 ICD10:G40.3 GARD:0009998 DOID:0111276 ICD10:G71.3 UMLS:C1843852 Orphanet:70595" +MONDO:0011835 "A syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia." "Orphanet:402082 UMLS:CN226157 OMIM:613832 UMLS:C1843851 Orphanet:254881 OMIM:607459 ICD10CM:G40.3 GARD:0009998 DOID:0111276 ICD10CM:G71.3 UMLS:C1843852 Orphanet:70595" CHEBI:26948 "Any member of the group of 1,3-thiazolium cations that exhibit biological activity against vitamin B1 deficiency in animals. Symptoms of vitamin B1 deficiency include constipation, loss of apetite, fatigue, nausea, delirium, blurry vision and muscle weakness. Severe vitamin B1 deficiency can also lead to a disease known as beriberi. Vitamin B1 consists of the vitamer thiamin and its acid, aldehyde and phosphorylated derivatives (and their corresponding ionized, salt and hydrate forms)." http://identifiers.org/hgnc/12373 NCBITaxon:27592 "GC_ID:1" PATO:0001402 "A cellular potency that is the capacity to form multiple differentiated cell types." GO:0007492 "The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues." MONDO:0024981 "Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs)." "UMLS:C0035801 MESH:D012376" -MONDO:0005819 "Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare." "ICD9:012.32 ICD10:A15.5 SCTID:70341005 ICD9:012.3 EFO:0007337 NCIT:C26895 DOID:1583 MESH:D014387 ICD9:012.31 UMLS:C0041315 ICD9:012.30" +MONDO:0005819 "Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare." "ICD9:012.32 SCTID:70341005 ICD9:012.3 EFO:0007337 NCIT:C26895 DOID:1583 MESH:D014387 ICD9:012.31 UMLS:C0041315 ICD9:012.30" MONDO:0001051 "Acute form of otitis externa." "DOID:10518 SCTID:30250000 ICD9:380.12 MEDGEN:508459 UMLS:C0149948" MONDO:0005421 UBERON:0007148 MONDO:0001790 "A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare." "ICD9:214.8 UMLS:C0347446 DOID:13743 SCTID:189017000 NCIT:C4619" -MONDO:0011565 "NCIT:C84442 GARD:0009226 SCTID:237602007 ICD9:277.7 UMLS:C0524620 DOID:14221 OMIM:605552 MESH:D024821 ICD10:E88.81 UMLS:C2930930 EFO:0000195" -MONDO:0019249 "A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies." "DOID:12798 MedDRA:10028093 NCIT:C61259 Orphanet:79213 GARD:0007065 ICD10:E76.3 ICD10:E76.0 OMIMPS:607014 UMLS:C0026703 ICD10:E76.2 ICD10:E76.1 SCTID:11380006 MESH:D009083 ICD9:277.5 OMIM:252700" +MONDO:0011565 "NCIT:C84442 GARD:0009226 SCTID:237602007 ICD9:277.7 ICD10CM:E88.81 UMLS:C0524620 DOID:14221 OMIM:605552 MESH:D024821 UMLS:C2930930 EFO:0000195" +MONDO:0019249 "A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies." "DOID:12798 MedDRA:10028093 NCIT:C61259 ICD10CM:E76.2 Orphanet:79213 GARD:0007065 ICD10CM:E76.3 OMIMPS:607014 ICD10CM:E76.0 UMLS:C0026703 SCTID:11380006 MESH:D009083 ICD9:277.5 OMIM:252700 ICD10CM:E76.1" CL:0002101 "A CD38-positive naive B cell is a mature B cell that has the phenotype CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, and that has not yet been activated by antigen in the periphery." MONDO:0003853 "A carcinoma that arises from glandular epithelial cells of the major vestibular gland." "DOID:6316 NCIT:C7719 UMLS:C0238016" MONDO:0004225 "A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases." "ICDO:9765/1 NCIT:C3996 MESH:D008998 SCTID:277577000 SCTID:58648008 UMLS:C0026470 GARD:0007034 DOID:7442 ICD9:238.6 ONCOTREE:MGUS EFO:1000836" @@ -35827,7 +35804,7 @@ CHEBI:27026 "Poisonous substance produced by a biological organism such as a mic UBERON:0008345 MONDO:0004180 "A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma." "DOID:731 NCIT:C3431 SCTID:92468007 SCTID:126879004 NCIT:C4893 MESH:D014571 ICD9:223.89 ICD9:223.9" UBERON:0014477 -MONDO:0019870 "Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported." "Orphanet:96069 SCTID:766053003 UMLS:CN244049 ICD10:Q92.3" +MONDO:0019870 "Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported." "Orphanet:96069 UMLS:CN244049 SCTID:766053003" http://identifiers.org/hgnc/2606 NCBITaxon:147368 "GC_ID:1" HP:0010280 "Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth." "SNOMEDCT_US:20607006 UMLS:C0149704 UMLS:C0038362 SNOMEDCT_US:61170000 MSH:D013280" @@ -35838,19 +35815,18 @@ CHR:9606-chrXq2 MONDO:0005686 CHEBI:36277 "A salt of a bile acid." PATO:0001824 "A wetness quality inhering in a bearer by virtue of the bearer's not being covered by a liquid." -MONDO:0002929 "SCTID:42908004 ICD10:P28.0 DOID:424 ICD9:770.4" +MONDO:0002929 "SCTID:42908004 DOID:424 ICD9:770.4" HP:0011452 "An abnormality of the function of the middle ear." "UMLS:C4021846" UBERON:0013279 http://identifiers.org/hgnc/3804 UBERON:0015410 MONDO:0012816 "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene." "OMIM:612201 Orphanet:334 MESH:C567400 UMLS:C2677294" GO:0001977 "A slow mechanism of blood pressure regulation that responds to changes in pressure resulting from fluid and salt intake by modulating the quantity of blood in the circulatory system." -MONDO:0013489 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene." "UMLS:C3151351 ICD10:H90.3 Orphanet:90636 DOID:0110534 OMIM:613916" +MONDO:0013489 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene." "UMLS:C3151351 Orphanet:90636 DOID:0110534 OMIM:613916" MONDO:0013476 "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene." "UMLS:C3151266 DOID:0110325 OMIM:613875" UBERON:0008346 -MONDO:0014060 "OMIM:615147 UMLS:C3554593 Orphanet:352718 ICD10:H35.5" -MONDO:0006885 -MONDO:0004907 "Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions." "Orphanet:79364 UMLS:C0002170 NCIT:C50575 ICD9:704.0 DOID:987 SCTID:56317004 ICD9:704.00 ICD10:L65.9 MESH:D000505 OMIM:300042 ICD9:704.09" +MONDO:0014060 "OMIM:615147 ICD10CM:H35.5 UMLS:C3554593 Orphanet:352718" +MONDO:0004907 "Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions." "Orphanet:79364 UMLS:C0002170 NCIT:C50575 ICD9:704.0 DOID:987 SCTID:56317004 ICD9:704.00 MESH:D000505 OMIM:300042 ICD9:704.09" MONDO:0003925 "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." "NCIT:C6843 DOID:6562 UMLS:C1333474" MONDO:0010366 "MESH:C564480 OMIM:300581 Orphanet:323 UMLS:C1845119" UBERON:0014478 @@ -35860,11 +35836,10 @@ http://identifiers.org/hgnc/28072 MONDO:0000649 "A malignant neoplasm involving the sensory system" "DOID:0060116" MONDO:0001728 "DOID:13491 ICD9:386.03 UMLS:C0155498 SCTID:194350005" MONDO:0007664 "Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene." "MESH:C564234 UMLS:C1842028 Orphanet:98977 OMIM:137750 GARD:0009485" -MONDO:0012003 "An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness." "UMLS:C1842342 ICD10:H90.3 OMIM:608265 DOID:0110497 NCIT:C129874 MESH:C564265 Orphanet:90636" +MONDO:0012003 "An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness." "UMLS:C1842342 OMIM:608265 DOID:0110497 NCIT:C129874 MESH:C564265 Orphanet:90636" GO:0003015 "A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood." MONDO:0005423 http://identifiers.org/hgnc/6572 -MONDO:0030502 "A chromosomal anomaly consisting of the presence of two chromosomes of the same type in addition to the normal diploid number." "MESH:D058670 EFO:1001297 NCIT:C36601" NCBITaxon:12845 "GC_ID:1" UBERON:0008343 HP:0031650 "Any functional defect of the mitral or tricuspid valve." @@ -35876,10 +35851,10 @@ MONDO:0018808 "UMLS:CN776859 Orphanet:480520" MONDO:0010103 "SCTID:1744008 OMIM:273000" MONDO:0005742 "Cholecystitis resulting from infection by gas producing organisms." "NCIT:C35592 SCTID:95558008 MESH:D041882 EFO:0007249 UMLS:C0521610 DOID:9765" MONDO:0001729 "UMLS:C0155497 ICD9:386.02 SCTID:194349005 DOID:13492" -MONDO:0005729 "Infection with flukes of the genus Dicrocoelium." "ICD9:121.8 UMLS:C0012102 MESH:D004011 SCTID:105668007 UMLS:C1737210 EFO:0007234 DOID:1219 ICD10:B66.2" +MONDO:0005729 "Infection with flukes of the genus Dicrocoelium." "ICD9:121.8 UMLS:C0012102 MESH:D004011 SCTID:105668007 UMLS:C1737210 EFO:0007234 DOID:1219" http://identifiers.org/hgnc/3806 CL:0000152 "A cell of an exocrine gland; i.e. a gland that discharges its secretion via a duct." "FMA:16014" -MONDO:0014062 "DOID:0111519 UMLS:C3554599 OMIM:615156 Orphanet:352470 ICD10:G71.3" +MONDO:0014062 "ICD10CM:G71.3 DOID:0111519 UMLS:C3554599 OMIM:615156 Orphanet:352470" MONDO:0011300 "OMIM:603221 MESH:C566397 UMLS:C1864111" MONDO:0011566 "OMIM:605572" GO:0006109 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving carbohydrates." @@ -35887,11 +35862,11 @@ GO:0002504 "The process in which an antigen-presenting cell expresses antigen (p GO:0042044 "The directed movement of substances that are in liquid form in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." MONDO:0000602 "A hypersensitivity reaction type II disease that involves the blood." "DOID:0060050" MONDO:0009151 "An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." "SCTID:716248001 Orphanet:3253 OMIM:225060 Orphanet:1991 DOID:0080400 GARD:0000375 UMLS:CN229116 NCIT:C122656 GARD:0001045 DOID:0060773 Orphanet:320317" -MONDO:0019012 "An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation." "NCIT:C98873 DOID:0060234 OMIMPS:201000 SCTID:205813009 Orphanet:65759 OMIM:614976 GARD:0006003 UMLS:C1275078 SCTID:403767009 ICD10:Q87.0 UMLS:CN229565 OMIM:201000" +MONDO:0019012 "An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation." "NCIT:C98873 ICD10CM:Q87.0 DOID:0060234 OMIMPS:201000 SCTID:205813009 Orphanet:65759 OMIM:614976 GARD:0006003 UMLS:C1275078 SCTID:403767009 UMLS:CN229565 OMIM:201000" UBERON:0008344 MONDO:0004224 "DOID:7441 NCIT:C35602 UMLS:C1333042" MONDO:0012765 "MESH:C567452 DOID:0070211 UMLS:C2677787 Orphanet:79452 OMIM:611944" -MONDO:0019902 "Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum." "Orphanet:96168 SCTID:766716004 ICD10:Q93.5" +MONDO:0019902 "Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum." "Orphanet:96168 SCTID:766716004 ICD10CM:Q93.5" MONDO:0018809 "Orphanet:480524" NCBITaxon:11646 "GC_ID:1" MONDO:0013093 "Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene." "Orphanet:360 OMIM:613029 Orphanet:182067" @@ -35905,12 +35880,11 @@ MONDO:0002861 "A sarcoma that arises from the testis. The majority of cases aris MONDO:0008184 "GARD:0004203 Orphanet:2805 OMIM:167755 UMLS:C1868659 MESH:C538109" HP:0030976 "A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." CL:0019020 "An epithelial cell of the extrahepatic bile ducts, including the left and right hepatic duct, common hepatic duct, and common bile duct. They are columnar in shape, and have a large nuclear-to-cytoplasmic ratio relative to small/intrahepatic cholangiocytes." -MONDO:0017579 "Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients." "OMIM:614583 ICD9:759.89 DOID:0060229 ICD10:Q87.0 SCTID:702410002 OMIMPS:243310 GARD:0005279 Orphanet:2995 OMIM:243310" +MONDO:0017579 "Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients." "OMIM:614583 ICD9:759.89 DOID:0060229 SCTID:702410002 OMIMPS:243310 GARD:0005279 Orphanet:2995 OMIM:243310 ICD10CM:Q87.0" MONDO:0002082 "A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma." "SCTID:387922007 NCIT:C3010 ICD9:239.7 EFO:0003769" GO:0051241 "Any process that stops, prevents, or reduces the frequency, rate or extent of an organismal process, the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs." PATO:0000150 "A morphologic quality inhering in a bearer by virtue of the bearer's relative size, organization and distribution of its surface elements or the representation or invention of the appearance of its surface; visual and tactile surface characteristics." http://identifiers.org/hgnc/17009 -MONDO:0000529 CHEBI:36828 MONDO:0002463 "A carcinoma that arises from epithelial cells of the lacrimal gland." "UMLS:C1334358 DOID:293 NCIT:C6129" MONDO:0010105 "MESH:C537401 UMLS:C1848902 OMIM:273120" @@ -35926,18 +35900,17 @@ ENVO:09000014 "The amount of a nitrogen atom when measured in soil." MONDO:0002925 http://identifiers.org/hgnc/29277 http://identifiers.org/hgnc/3808 -MONDO:0044355 "Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases." "Orphanet:178311 ICD10:M85.8 SCTID:766711009 UMLS:C0020499" +MONDO:0044355 "Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases." "Orphanet:178311 SCTID:766711009 UMLS:C0020499" http://identifiers.org/hgnc/28912 UBERON:0009548 GO:0042589 "The lipid bilayer surrounding a zymogen granule." MONDO:0017161 "Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset." "OMIM:616439 OMIM:615911 OMIM:613954 OMIM:616437 Orphanet:275872 UMLS:C3888102 OMIM:612069 OMIM:105550 OMIM:608030 UMLS:CN239493 OMIMPS:105550" SO:0000240 "A deviation in chromosome structure or number." MONDO:0017608 -MONDO:0000528 UBERON:0025261 MONDO:0003715 "Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer." "MESH:C536475 UMLS:C1511205 NCIT:C39842 GARD:0007836 DOID:5958 ONCOTREE:URCA" MONDO:0012501 "OMIM:610452 GARD:0008273" -MONDO:0005181 "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)" "HP:0000590 MESH:D017246 ICD10:H49.4 Orphanet:520820 ICD9:378.72 SCTID:46252003 DOID:12558 GARD:0004503 EFO:0002509" +MONDO:0005181 "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)" "DOID:12558 HP:0000590 MESH:D017246 Orphanet:520820 ICD10CM:H49.4 ICD9:378.72 SCTID:46252003 GARD:0004503 EFO:0002509" CHEBI:36829 NCBITaxon:46684 "GC_ID:1" MONDO:0011442 "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene." "Orphanet:164736 UMLS:C3807327 OMIM:604348 DOID:0110011" @@ -35947,66 +35920,66 @@ MONDO:0018803 MONDO:0004439 "A meningioma that affects the periocular region." "DOID:8030 UMLS:C1335383 NCIT:C6777" MONDO:0012769 "MESH:C567448 UMLS:C2677772 Orphanet:1331 OMIM:611958" MONDO:0011087 "An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1." "OMIM:601458 UMLS:C1832321 DOID:0110900 MESH:C563310" -MONDO:0009666 "A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." "Orphanet:79242 DOID:859 SCTID:15307001 GARD:0002721 SCTID:360369003 NCIT:C98842 ICD9:270.8 ICD10:E53.8 UMLS:C0268581 OMIM:253270 ICD10:D81.818 MESH:D028922" +MONDO:0009666 "A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." "Orphanet:79242 DOID:859 SCTID:15307001 GARD:0002721 SCTID:360369003 NCIT:C98842 ICD9:270.8 UMLS:C0268581 OMIM:253270 ICD10CM:E53.8 MESH:D028922" MONDO:0005685 http://identifiers.org/hgnc/3809 ENVO:01000319 "A rocky slope is a slope which has a surface primarily composed of rock." MONDO:0003020 -MONDO:0019511 "An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout." "UMLS:CN206322 Orphanet:88950 GARD:0010679 ICD10:Q61.5" +MONDO:0019511 "An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout." "UMLS:CN206322 Orphanet:88950 GARD:0010679 ICD10CM:Q61.5" NBO:0000338 "\"Movement behavior of the body or its parts.\"" GO:0002200 "The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences." -MONDO:0019029 "Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur." "SCTID:699756005 Orphanet:67039 ICD9:524.89 ICD10:K00.4" +MONDO:0019029 "Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur." "ICD10CM:K00.4 SCTID:699756005 Orphanet:67039 ICD9:524.89" MONDO:0017605 MONDO:0011306 "MESH:C566392 OMIM:603323 UMLS:C1864028" -MONDO:0007842 "Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance." "MESH:C535884 Orphanet:2295 ICD10:Q79.6 OMIM:147900 UMLS:C0268349 GARD:0003054 SCTID:71322004" +MONDO:0007842 "Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance." "MESH:C535884 ICD10CM:Q79.6 Orphanet:2295 OMIM:147900 UMLS:C0268349 GARD:0003054 SCTID:71322004" GO:2000242 "Any process that stops, prevents, or reduces the frequency, rate or extent of reproductive process." MONDO:0019126 "Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium." "Orphanet:73014" MONDO:0045072 "Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body." "NCIT:C4065 UMLS:C0851689" -MONDO:0012502 "Orphanet:306658 ICD10:M11.2 OMIM:610455 GARD:0010878 MESH:C566473 DOID:0080170 Orphanet:53715" -MONDO:0002088 "DOID:1726 ICD10:H34.82 NCIT:C35341 SCTID:65593009 UMLS:C0271080" +MONDO:0012502 "Orphanet:306658 ICD10CM:M11.2 OMIM:610455 GARD:0010878 MESH:C566473 DOID:0080170 Orphanet:53715" +MONDO:0002088 "DOID:1726 NCIT:C35341 SCTID:65593009 UMLS:C0271080" MONDO:0001723 "UMLS:C0155155 DOID:13474 SCTID:193881001 ICD9:372.42" MONDO:0012768 "UMLS:C2677773 MESH:C567449 OMIM:611955" NCBITaxon:426441 "GC_ID:1" MONDO:0018804 "Orphanet:480491 UMLS:CN776887" MONDO:0010107 CL:0000617 "A neuron that uses GABA as a vesicular neurotransmitter" "WBbt:0005190 FMA:84788" -MONDO:0012435 "A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria." "MESH:C565706 UMLS:C1857776 GARD:0012964 SCTID:711412004 OMIM:610198 ICD10:E71.1 GARD:0010344 Orphanet:66634 UMLS:C4039473 DOID:0110000" +MONDO:0012435 "A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria." "ICD10CM:E71.1 MESH:C565706 UMLS:C1857776 GARD:0012964 SCTID:711412004 OMIM:610198 GARD:0010344 Orphanet:66634 UMLS:C4039473 DOID:0110000" NCBITaxon:1338369 "GC_ID:1" -MONDO:0002050 "A melancholy feeling of sadness and despair." "ICD10:F32 DOID:1596 ICD9:311 NCIT:C2982 ICD10:F33.9 ICD10:F32.9 SCTID:35489007 UMLS:CN236658 MESH:D003866 MFOMD:0000013" +MONDO:0002050 "A melancholy feeling of sadness and despair." "DOID:1596 ICD9:311 NCIT:C2982 SCTID:35489007 UMLS:CN236658 MESH:D003866 MFOMD:0000013 ICD10CM:F32" http://identifiers.org/hgnc/24116 MONDO:0013967 "OMIM:614920 Orphanet:772 UMLS:C3554055 Orphanet:44" http://identifiers.org/hgnc/26513 GO:0048771 "The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling." NCBITaxon:56251 "GC_ID:1" MONDO:0013701 "OMIM:614339" -MONDO:0014621 "Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene." "OMIM:616399 DOID:0110226 Orphanet:130 UMLS:C4225340 ICD10:I49.8" +MONDO:0014621 "Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene." "OMIM:616399 DOID:0110226 Orphanet:130 UMLS:C4225340" MONDO:0008181 "OMIM:167600" MONDO:0042966 "An instance of mitral valve disease that is caused by an inherited modification of the individual's genome." "SCTID:75372006" UBERON:0012075 -MONDO:0017606 "GARD:0007525 ICD10:B02.2+ Orphanet:3020 ICD10:G53.0*" +MONDO:0017606 "GARD:0007525 ICD10EXP:G53.0* Orphanet:3020 ICD10EXP:B02.2+" MONDO:0014662 "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34." "UMLS:C4225308 OMIM:616488 Orphanet:478664 DOID:0070153" -MONDO:0013968 "DOID:0080570 GARD:0004329 UMLS:C2752015 ICD10:E77.8 Orphanet:319646 MESH:C567859 OMIM:614921" +MONDO:0013968 "DOID:0080570 ICD10CM:E77.8 GARD:0004329 UMLS:C2752015 Orphanet:319646 MESH:C567859 OMIM:614921" GO:0050748 "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids." -MONDO:0019549 "Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop." "SCTID:766977007 ICD10:G60.0 UMLS:CN206378 Orphanet:90118" +MONDO:0019549 "Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop." "SCTID:766977007 UMLS:CN206378 Orphanet:90118 ICD10CM:G60.0" NCBITaxon:43920 "GC_ID:1" MONDO:0014045 "Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene." "OMIM:615106 Orphanet:201 UMLS:C3554516" MONDO:0010106 "OMIM:273150" NCBITaxon:2748762 "GC_ID:1" -MONDO:0011415 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene." "DOID:0110331 MESH:C565814 GARD:0009661 ICD10:H35.5 OMIM:604232" +MONDO:0011415 "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene." "DOID:0110331 MESH:C565814 GARD:0009661 OMIM:604232" NCBITaxon:46682 "GC_ID:1" http://identifiers.org/hgnc/4171 -MONDO:0013161 "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia." "OMIM:613157 UMLS:C3150417 ICD10:G71.0 GARD:0012540 Orphanet:206564 DOID:0110292" +MONDO:0013161 "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia." "OMIM:613157 ICD10CM:G71.0 UMLS:C3150417 GARD:0012540 Orphanet:206564 DOID:0110292" MONDO:0009374 "SCTID:25739007 ICD9:270.8 MESH:C562669 GARD:0010717 UMLS:C0268531 HP:0003260 OMIM:237000" UBERON:0003449 UBERON:0005844 GO:0045844 "Any process that activates or increases the frequency, rate or extent of striated muscle development." MONDO:0008176 "UMLS:C4085252 OMIM:167250 GARD:0004191" MONDO:0007812 "Orphanet:313 OMIM:146750 SCTID:254164007 GARD:0009735 MESH:C537263" -MONDO:0011186 "A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner." "Orphanet:886 UMLS:C1865885 DOID:0110832 Orphanet:231169 OMIM:602083 GARD:0010043 ICD10:H35.5" +MONDO:0011186 "A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner." "Orphanet:886 UMLS:C1865885 DOID:0110832 Orphanet:231169 OMIM:602083 GARD:0010043" MONDO:0012238 "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene." "MESH:C563750 DOID:0111517 Orphanet:254892 OMIM:609283 UMLS:C1836460" http://identifiers.org/hgnc/8965 -MONDO:0011657 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter." "MESH:C565239 DOID:0110554 UMLS:C1853451 OMIM:606282 GARD:0009166 ICD10:H90.3" -MONDO:0013000 "Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations." "ICD10:E80.2 MESH:C562618 GARD:0004445 Orphanet:100924 OMIM:612740 NCIT:C133887" +MONDO:0011657 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter." "MESH:C565239 DOID:0110554 UMLS:C1853451 OMIM:606282 GARD:0009166" +MONDO:0013000 "Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations." "MESH:C562618 GARD:0004445 ICD10CM:E80.2 Orphanet:100924 OMIM:612740 NCIT:C133887" http://identifiers.org/hgnc/1677 MONDO:0004947 "A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)" "NCIT:C8936 SCTID:277571004 DOID:7061 EFO:0000094 DOID:0080630" GO:0070564 "Any process that activates or increases the frequency, rate or extent of vitamin D receptor signaling pathway activity." @@ -36020,7 +35993,7 @@ http://identifiers.org/hgnc/17264 UBERON:0005845 GO:0000226 "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins." UBERON:0003448 -MONDO:0017615 "Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." "DOID:0060169 SCTID:230410004 OMIMPS:601764 OMIM:601764 ICD9:V17.2 OMIM:607745 OMIM:612627 Orphanet:306 OMIM:605751 GARD:0000857 OMIM:617080 ICD10:G40.3 UMLS:CN203492" +MONDO:0017615 "Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." "DOID:0060169 SCTID:230410004 OMIMPS:601764 OMIM:601764 ICD10CM:G40.3 ICD9:V17.2 OMIM:607745 OMIM:612627 Orphanet:306 OMIM:605751 GARD:0000857 OMIM:617080 UMLS:CN203492" http://identifiers.org/hgnc/8966 MONDO:0030837 "OMIM:619092" GO:0097006 "Any process involved in the maintenance of internal levels of plasma lipoprotein particles within an organism." @@ -36029,13 +36002,13 @@ UBERON:0012085 http://identifiers.org/hgnc/25583 UBERON:0034770 GO:0000278 "Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent." -MONDO:0015764 "Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported." "Orphanet:1724 ICD10:Q92.1" +MONDO:0015764 "Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported." "Orphanet:1724 ICD10CM:Q92.1" UBERON:0004647 -MONDO:0005881 "A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm." "MESH:D016104 NCIT:C92839 DOID:12215 HP:0001562 ICD10:O41.00 EFO:0007401 SCTID:59566000 ICD9:658.00 ICD9:658.0 ICD10:O41.0" +MONDO:0005881 "A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm." "MESH:D016104 NCIT:C92839 DOID:12215 HP:0001562 EFO:0007401 SCTID:59566000 ICD9:658.00 ICD9:658.0" MONDO:0042727 "A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns." "UMLS:C0559459 SCTID:281561000 HP:0030736 NCIT:C99055 GARD:0000319 Orphanet:494421" -MONDO:0010076 "Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." "MESH:C562958 ICD10:Q77.7 Orphanet:93351 OMIM:271650 UMLS:C0432213 SCTID:717330004" +MONDO:0010076 "Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." "MESH:C562958 ICD10CM:Q77.7 Orphanet:93351 OMIM:271650 UMLS:C0432213 SCTID:717330004" MONDO:0015914 "Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication." "GARD:0012959 Orphanet:182058" -MONDO:0021476 "A benign neoplasm that involves the tongue." "ICD10:D10.1 UMLS:C0153933 SCTID:92443005 ICD9:210.1 NCIT:C3592" +MONDO:0021476 "A benign neoplasm that involves the tongue." "UMLS:C0153933 SCTID:92443005 ICD9:210.1 NCIT:C3592 ICD10CM:D10.1" http://identifiers.org/hgnc/4173 HP:0011368 "Thickening of the epidermal layer of the skin." "UMLS:C0494876 UMLS:C4020752" MONDO:0004454 "A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present." "UMLS:C1516474 DOID:8082 NCIT:C39815" @@ -36044,14 +36017,14 @@ NCBITaxon:63330 "GC_ID:1 PMID:7701348" http://identifiers.org/hgnc/24123 MONDO:0008748 "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene." "Orphanet:79430 OMIM:203300 DOID:0060539 NCIT:C150367 UMLS:C2931875 MESH:C538539 Orphanet:231500" MONDO:0007814 "UMLS:C1840266 MESH:C564136 Orphanet:1572 OMIM:146830 GARD:0002984" -MONDO:0014706 "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24." "ICD10:Q82.8 DOID:0070131 OMIM:616603 UMLS:C4225268" +MONDO:0014706 "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24." "DOID:0070131 OMIM:616603 UMLS:C4225268" http://identifiers.org/hgnc/16068 MONDO:0012891 "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene." "DOID:0060269 OMIM:612390 Orphanet:2524 UMLS:C2676465 MESH:C567324" UBERON:0012084 -MONDO:0001726 "A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism." "SCTID:71961003 ICD9:299.1 SCTID:61831009 DOID:13487 NCIT:C97164 ICD10:F84.3 UMLS:C0236791" -MONDO:0012755 "Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." "SCTID:718752007 DOID:0050995 ICD10:G11.8 MESH:C567459 UMLS:C2677843 Orphanet:209970 OMIM:611907" +MONDO:0001726 "A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism." "SCTID:71961003 ICD9:299.1 SCTID:61831009 DOID:13487 NCIT:C97164 UMLS:C0236791" +MONDO:0012755 "Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." "DOID:0050995 SCTID:718752007 MESH:C567459 UMLS:C2677843 Orphanet:209970 OMIM:611907 ICD10CM:G11.8" GO:0046326 "Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle." -MONDO:0008270 "Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia." "GARD:0005289 SCTID:715710001 UMLS:C1868114 ICD10:Q69.1 Orphanet:93336 Orphanet:2950 OMIM:174500" +MONDO:0008270 "Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia." "GARD:0005289 SCTID:715710001 UMLS:C1868114 ICD10CM:Q69.1 Orphanet:93336 Orphanet:2950 OMIM:174500" NCBITaxon:138950 "GC_ID:1" http://identifiers.org/hgnc/7765 PATO:0000033 "A quality inhering in a substance by virtue of the amount of the bearer's there is mixed with another substance." @@ -36062,22 +36035,22 @@ http://identifiers.org/hgnc/4174 MONDO:0006364 "A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma." "UMLS:C1709507 NCIT:C45661 EFO:1000469" http://identifiers.org/hgnc/2876 http://identifiers.org/hgnc/24124 -MONDO:0019722 "A disease involving the renal glomerulus." "GTR:AN0966176 SCTID:197679002 UMLS:CN580795 Orphanet:93548 NCIT:C120887 ICD10:N00.N08" +MONDO:0019722 "A disease involving the renal glomerulus." "GTR:AN0966176 SCTID:197679002 UMLS:CN580795 Orphanet:93548 NCIT:C120887 ICD10CM:N00-N08" MONDO:0007815 http://identifiers.org/hgnc/15968 CHEBI:26151 http://identifiers.org/hgnc/7500 -MONDO:0008733 "Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency." "OMIMPS:202200 OMIM:609197 OMIM:607398 UMLS:CN204661 Orphanet:361 OMIM:202200 OMIM:202355 SCTID:765326001 OMIM:614736 GARD:0002498 DOID:0080620 ICD10:E27.1 MESH:C565974 NCIT:C120446" +MONDO:0008733 "Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency." "ICD10CM:E27.1 OMIMPS:202200 OMIM:609197 OMIM:607398 UMLS:CN204661 Orphanet:361 OMIM:202200 OMIM:202355 SCTID:765326001 OMIM:614736 GARD:0002498 DOID:0080620 MESH:C565974 NCIT:C120446" GO:0045617 "Any process that stops, prevents, or reduces the frequency, rate or extent of keratinocyte differentiation." MONDO:0002031 "Pathological developments in the cecum." "DOID:1518 UMLS:C0007527 MESH:D002429 SCTID:128525008" MONDO:0030835 "OMIM:619090" -MONDO:0019620 "Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations." "ICD10:Q39.6 Orphanet:91358 ICD9:750.4 SCTID:204667006" +MONDO:0019620 "Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations." "Orphanet:91358 ICD9:750.4 SCTID:204667006 ICD10CM:Q39.6" http://identifiers.org/hgnc/1678 -MONDO:0007504 "Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant." "OMIM:128980 Orphanet:2405 GARD:0002195 SCTID:722476007 ICD10:H90.0" +MONDO:0007504 "Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant." "OMIM:128980 Orphanet:2405 GARD:0002195 SCTID:722476007 ICD10CM:H90.0" UBERON:0012083 MONDO:0010360 "Orphanet:2828 UMLS:C1845165 OMIM:300557 MESH:C564486" NCBITaxon:44281 "GC_ID:1" -MONDO:0016907 "Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "ICD10:Q93.5 MESH:C537828 UMLS:C0795828 GARD:0003770 Orphanet:262065" +MONDO:0016907 "Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person." "MESH:C537828 UMLS:C0795828 GARD:0003770 ICD10CM:Q93.5 Orphanet:262065" NCBITaxon:138951 "GC_ID:1" MONDO:0021374 "A neoplasm involving a cerebral hemisphere." "SCTID:126953009 NCIT:C4874" http://identifiers.org/hgnc/5103 @@ -36087,7 +36060,7 @@ GO:0071322 "Any process that results in a change in state or activity of a cell UBERON:0007144 UBERON:0003445 UBERON:0013280 -MONDO:0002422 "A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton." "NCIT:C7644 DOID:2775 ICD10:C40.2 ICDO:9261/3 MESH:C562741 DOID:2776 UMLS:C1367554 UMLS:C0334556 ICD9:170.9 Orphanet:55881 SCTID:307609003 OMIM:102660 ONCOTREE:ADMA MESH:D050398" +MONDO:0002422 "A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton." "NCIT:C7644 DOID:2775 ICD10CM:C40.2 ICDO:9261/3 MESH:C562741 DOID:2776 UMLS:C1367554 UMLS:C0334556 ICD9:170.9 Orphanet:55881 SCTID:307609003 OMIM:102660 ONCOTREE:ADMA MESH:D050398" MONDO:0003018 GO:1904409 "Any process that modulates the frequency, rate or extent of secretory granule organization." ECTO:4000034 "A exposure event involving the interaction of an exposure receptor to increased amount of temperature of air." @@ -36095,7 +36068,7 @@ http://identifiers.org/hgnc/4175 GO:0007606 "The series of events required for an organism to receive a sensory chemical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process." GO:0002269 "A change in the morphology or behavior of a leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an inflammatory response." MONDO:0100195 "An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease." -MONDO:0019581 "Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms." "ICD9:701.8 Orphanet:90396 ICD10:L98.5 UMLS:C0406660 SCTID:238949006" +MONDO:0019581 "Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms." "ICD9:701.8 ICD10CM:L98.5 Orphanet:90396 UMLS:C0406660 SCTID:238949006" http://identifiers.org/hgnc/5102 UBERON:0004642 UBERON:0002247 @@ -36106,43 +36079,43 @@ MONDO:0024884 "A carcinoma that has spread to the bone from another, primary ana MONDO:0021508 "A benign neoplasm that involves the epicardium." "NCIT:C8535 UMLS:C0685115 SCTID:92087008" UBERON:0001049 NCBITaxon:11653 "GC_ID:1" -MONDO:0007486 "A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported." "ICD10:Q82.8 Orphanet:352657 MESH:C562551 NCIT:C3940 OMIM:127600 UMLS:C0265966 SCTID:400014002" +MONDO:0007486 "A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported." "ICD10CM:Q82.8 Orphanet:352657 MESH:C562551 NCIT:C3940 OMIM:127600 UMLS:C0265966 SCTID:400014002" http://identifiers.org/hgnc/16902 -MONDO:0005654 "An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur." "UMLS:C0003950 NCIT:C128392 ICD9:127.0 DOID:456 ICD10:B77 CSP:1248-7284 EFO:0007154 ICD10:B77.9 SCTID:2435008 MESH:D001196" +MONDO:0005654 "An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur." "UMLS:C0003950 NCIT:C128392 ICD9:127.0 DOID:456 CSP:1248-7284 EFO:0007154 SCTID:2435008 MESH:D001196 ICD10CM:B77" UBERON:0007143 MONDO:0012252 "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene." "UMLS:C0206743 Orphanet:231108 Orphanet:69077 Orphanet:99966 OMIM:609322" UBERON:0003444 MONDO:0011560 "OMIM:605480" http://identifiers.org/hgnc/18466 -MONDO:0004982 "Inflammation of the pancreas." "ICD10:K85.9 NCIT:C3306 DOID:4989 SCTID:75694006 EFO:0000278 MESH:D010195 UMLS:C0030305" +MONDO:0004982 "Inflammation of the pancreas." "NCIT:C3306 DOID:4989 SCTID:75694006 EFO:0000278 MESH:D010195 UMLS:C0030305" UBERON:0004643 UBERON:0008342 MONDO:0021777 "Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci)." "UMLS:C0035440 SCTID:312591002 NCIT:C34985 ICD9:391.8 ICD9:391.9" http://identifiers.org/hgnc/5101 http://identifiers.org/hgnc/3811 UBERON:0036072 -MONDO:0014283 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene." "OMIM:615629 DOID:0110581 ICD10:H90.3 UMLS:C3810170" +MONDO:0014283 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene." "OMIM:615629 DOID:0110581 UMLS:C3810170" GO:0062013 "Any process that activates or increases the frequency, rate or extent of a small molecule metabolic process." UBERON:0012081 -MONDO:0009324 "Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." "ICD10:E72.0 OMIM:234500 ICD10:E72.02 MESH:D006250 Orphanet:2116 NCIT:C84748 UMLS:C0018609 MedDRA:10019165 SCTID:80902009 GARD:0006569 DOID:1060" +MONDO:0009324 "Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)." "OMIM:234500 MESH:D006250 ICD10CM:E72.0 Orphanet:2116 NCIT:C84748 UMLS:C0018609 MedDRA:10019165 SCTID:80902009 GARD:0006569 DOID:1060" NCBITaxon:11652 "GC_ID:1" CHEBI:35223 "A substance that increases the rate of a reaction without modifying the overall standard Gibbs energy change in the reaction." http://identifiers.org/hgnc/19439 UBERON:0001048 -MONDO:0002238 "A malignant neoplasm involving the ascending colon." "ICD9:153.6 UMLS:C0153439 DOID:218 ICD10:C18.2 SCTID:363412000" +MONDO:0002238 "A malignant neoplasm involving the ascending colon." "ICD9:153.6 UMLS:C0153439 DOID:218 SCTID:363412000" MONDO:0014845 "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene." "DOID:0111614 UMLS:C4310781 OMIM:616948" UBERON:0007142 -MONDO:0012017 "Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels.The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) ofthe bone and soft tissue of the affected limb; and multiple arteriovenousfistulas (abnormal connections between arteries and veins) which canpotentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs. Some cases of Parkes Weber syndrome result from mutations inthe RASA1 gene, andare inherited in an autosomal dominant manner. In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. Management typically depends on the presence and severity of symptoms and may includeembolization or surgery in the affected limb." "Orphanet:2346 UMLS:CN206396 ICD9:759.6 UMLS:CN074207 SCTID:234143003 Orphanet:90307 GARD:0009787 OMIM:608355 ICD10:Q87.2" +MONDO:0012017 "Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels.The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) ofthe bone and soft tissue of the affected limb; and multiple arteriovenousfistulas (abnormal connections between arteries and veins) which canpotentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs. Some cases of Parkes Weber syndrome result from mutations inthe RASA1 gene, andare inherited in an autosomal dominant manner. In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. Management typically depends on the presence and severity of symptoms and may includeembolization or surgery in the affected limb." "Orphanet:2346 UMLS:CN206396 ICD9:759.6 UMLS:CN074207 SCTID:234143003 Orphanet:90307 GARD:0009787 ICD10CM:Q87.2 OMIM:608355" UBERON:0003447 http://identifiers.org/hgnc/4177 http://identifiers.org/hgnc/26784 MONDO:0003016 -MONDO:0007250 "Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected." "ICD9:755.59 MESH:C567780 MESH:C536852 SCTID:29271008 GARD:0009448 Orphanet:295016 ICD10:Q68.1 OMIM:114200" +MONDO:0007250 "Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected." "ICD9:755.59 MESH:C567780 MESH:C536852 SCTID:29271008 GARD:0009448 Orphanet:295016 ICD10CM:Q68.1 OMIM:114200" GO:1901615 "The chemical reactions and pathways involving organic hydroxy compound." MONDO:0016140 "Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency." "MESH:D058088 Orphanet:207052" MONDO:0011563 "MESH:C565323 GARD:0002474 OMIM:605544 Orphanet:2024" MONDO:0005415 -MONDO:0015551 "A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes." "UMLS:C4302031 SCTID:723163000 ICD10:Q81.0 Orphanet:158665" +MONDO:0015551 "A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes." "UMLS:C4302031 SCTID:723163000 Orphanet:158665 ICD10CM:Q81.0" GO:0070640 "The chemical reactions and pathways involving vitamin D3, (3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol." UBERON:0004644 GO:0009893 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism." @@ -36156,47 +36129,47 @@ MONDO:0001777 "Acute form of gonococcal cystitis." "UMLS:C0153191 SCTID:24868007 MONDO:0010365 "Orphanet:2020 MESH:C567594 DOID:0111226 OMIM:300580 UMLS:C2749128" GO:0006911 "The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis." GO:0048666 "The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell." -MONDO:0012651 "Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs." "UMLS:C1969796 ICD10:G11.4 OMIM:611302 MESH:C566969 DOID:0050941 Orphanet:397946" +MONDO:0012651 "Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs." "UMLS:C1969796 OMIM:611302 MESH:C566969 DOID:0050941 Orphanet:397946 ICD10CM:G11.4" NCBITaxon:11655 "GC_ID:1" GO:1903380 "Any process that activates or increases the frequency, rate or extent of mitotic chromosome condensation." -MONDO:0005644 "A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs." "DOID:9181 ICD10:A06.9 ICD9:006 UMLS:C0002438 ICD10:A06 NCIT:C84551 MESH:D000562 EFO:0007144 ICD9:006.9" +MONDO:0005644 "A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs." "DOID:9181 ICD9:006 UMLS:C0002438 NCIT:C84551 MESH:D000562 EFO:0007144 ICD9:006.9" UBERON:0005843 MONDO:0005333 "Abnormally elevated thyroxine level in the blood." "OMIM:145680 EFO:0004127 DOID:2855 HGNC:399 OMIM:615999 UMLS:C0020551 MESH:D006981" GO:0051588 "Any process that modulates the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." ENVO:00000446 "A biome which is primarily or completely situated on a landmass." -MONDO:0019661 "Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." "UMLS:CN206535 ICD10:Q87.0 Orphanet:93260" +MONDO:0019661 "Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." "UMLS:CN206535 ICD10CM:Q87.0 Orphanet:93260" UBERON:0003446 -MONDO:0009375 "OMIM:237100 SCTID:65937002 MESH:C562397 ICD10:Q52.3 ICD9:752.42" +MONDO:0009375 "OMIM:237100 SCTID:65937002 ICD10CM:Q52.3 MESH:C562397 ICD9:752.42" MONDO:0003177 "An adenoid cystic carcinoma that arises from the prostate gland." "DOID:4868 NCIT:C5539 UMLS:C1335502" MONDO:0002514 "A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma." "EFO:0008550 NCIT:C8614 DOID:3117 UMLS:C0854196" -MONDO:0012363 "A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3." "OMIM:609913 DOID:0110355 GARD:0010395 MESH:C563689 UMLS:C1835927 ICD10:H35.5" +MONDO:0012363 "A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3." "OMIM:609913 DOID:0110355 GARD:0010395 MESH:C563689 UMLS:C1835927" GO:0072359 "The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." PATO:0001687 "A positional quality inhering in a bearer by virtue of the bearer's vertical distance of a point above or below a reference surface." http://identifiers.org/hgnc/7762 ECTO:7000020 "A exposure event involving the interaction of an exposure receptor to sand." PATO:0002304 "A quality of a process that has a value that is increased compared to normal or average." MONDO:0021543 "A hemangioma that involves the gingiva." "UMLS:C0582885 NCIT:C4831 SCTID:304990002 ICD9:228.09" -MONDO:0010797 "Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction." "DOID:0060067 OMIM:557000 GARD:0007343 ICD9:277.87 NCIT:C115326 UMLS:C0342784 MedDRA:10062941 SCTID:237985009 Orphanet:699 ICD10:D64.0" +MONDO:0010797 "Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction." "DOID:0060067 ICD10CM:D64.0 OMIM:557000 GARD:0007343 ICD9:277.87 NCIT:C115326 UMLS:C0342784 MedDRA:10062941 SCTID:237985009 Orphanet:699" OGMS:0000060 "A process in which at least one bodily component of an organsim participates." -MONDO:0009486 "An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet." "Orphanet:93324 MESH:C537021 UMLS:C1855648 Orphanet:2333 NCIT:C130992 GARD:0008367 OMIM:244460 ICD10:Q87.1" +MONDO:0009486 "An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet." "Orphanet:93324 MESH:C537021 UMLS:C1855648 Orphanet:2333 NCIT:C130992 GARD:0008367 OMIM:244460 ICD10CM:Q87.1" UBERON:0004645 ECTO:4000025 "A exposure event involving the interaction of an exposure receptor to increased pressure." MONDO:0014508 "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene." "OMIM:616151 UMLS:C4015342 Orphanet:99000" http://identifiers.org/hgnc/16905 http://identifiers.org/hgnc/14508 http://identifiers.org/hgnc/2615 -MONDO:0020159 "ICD10:Q10.2 MedDRA:10014923 Orphanet:98568 SCTID:20392000" +MONDO:0020159 "MedDRA:10014923 ICD10CM:Q10.2 Orphanet:98568 SCTID:20392000" MONDO:0017025 "Langerhans cell histiocytosis that occurs during childhood." "UMLS:C3899655 NCIT:C114483 Orphanet:264724" GO:0006754 "The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator." UBERON:0011980 MONDO:0026777 "An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death." "OMIM:301054 Orphanet:596753" http://identifiers.org/hgnc/9905 http://identifiers.org/hgnc/10805 -MONDO:0016824 "A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." "DOID:0080109 UMLS:C0206648 GARD:0002998 Orphanet:2591 ONCOTREE:IMS SCTID:254146000 ICDO:8824/1 MESH:D018224 ICD10:D48.1 OMIM:615293 NCIT:C3742 OMIMPS:228550 OMIM:228550" +MONDO:0016824 "A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." "DOID:0080109 UMLS:C0206648 ICD10CM:D48.1 GARD:0002998 Orphanet:2591 ONCOTREE:IMS SCTID:254146000 ICDO:8824/1 MESH:D018224 OMIM:615293 NCIT:C3742 OMIMPS:228550 OMIM:228550" UBERON:0003441 MONDO:0010438 "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene." "OMIM:300818 UMLS:C3806670 Orphanet:447" GO:0090277 "Any process that increases the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules." -MONDO:0015478 "ICD10:Q18.8 Orphanet:155867" +MONDO:0015478 "ICD10CM:Q18.8 Orphanet:155867" GO:0022804 "Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction." UBERON:0000948 NCBITaxon:6945 "GC_ID:1" @@ -36204,24 +36177,24 @@ MONDO:0017873 MONDO:0009116 UBERON:0001045 MONDO:0002193 "A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma." "DOID:2068 SCTID:189130001" -MONDO:0009692 "Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension." "MESH:D055728 UMLS:C2355576 ICD10:D75.81 GARD:0008618 ICD10:D47.4 ICD9:289.83 EFO:0002430 ICDO:9961/3 UMLS:C0001815 ONCOTREE:PMF OMIM:254450 ICD9:238.76 UMLS:C0948968 Orphanet:824 NCIT:C2862 DOID:4971" +MONDO:0009692 "Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension." "MESH:D055728 UMLS:C2355576 GARD:0008618 ICD9:289.83 EFO:0002430 ICDO:9961/3 UMLS:C0001815 ONCOTREE:PMF OMIM:254450 ICD9:238.76 UMLS:C0948968 Orphanet:824 NCIT:C2862 DOID:4971 ICD10CM:D47.4" MONDO:0100161 "Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels." "Orphanet:89939" MONDO:0600009 "Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period." PATO:0001555 "The number of parts of a particular type that the bearer entity has. This is a relational quality, and thus holds between two entities: the bearer of the quality, and the type of parts." GO:0050818 "Any process that modulates the frequency, rate or extent of coagulation, the process in which a fluid solution, or part of it, changes into a solid or semisolid mass." -MONDO:0016675 "UMLS:C1861238 OMIM:187370 MESH:C566069 ICD10:Q68.8 DOID:0111593 Orphanet:251515 SCTID:275336002" +MONDO:0016675 "UMLS:C1861238 OMIM:187370 MESH:C566069 DOID:0111593 ICD10CM:Q68.8 Orphanet:251515 SCTID:275336002" MONDO:0022553 "GARD:0000841" -MONDO:0009297 "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2)." "GARD:0007548 UMLS:C0017980 MESH:D006030 Orphanet:69076 DOID:9432 ICD10:E74.8 UMLS:C3245525 OMIM:233100 MedDRA:10038457 SCTID:267430007 ICD9:271.4 EFO:1001151" +MONDO:0009297 "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2)." "GARD:0007548 UMLS:C0017980 MESH:D006030 Orphanet:69076 DOID:9432 UMLS:C3245525 ICD10CM:E74.8 OMIM:233100 MedDRA:10038457 SCTID:267430007 ICD9:271.4 EFO:1001151" MONDO:0060702 "OMIM:617974 UMLS:CN244923" UBERON:0003440 MONDO:0001980 GO:0001819 "Any process that activates or increases the frequency, rate or extent of production of a cytokine." MONDO:0006286 "A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome." "NCIT:C5906 EFO:1000346 UMLS:C1334551" -MONDO:0012756 "A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." "ICD9:758.39 NCIT:C120408 ICD10:Q93.5 GARD:0010740 SCTID:718227006 Orphanet:261197 MESH:C579850 OMIM:611913 SCTID:699307007 UMLS:CN202166" -MONDO:0001516 "Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person." "NCIT:C85075 EFO:0008525 ICD9:335.19 SCTID:5262007 ICD10:G12.9 ICD9:335.10 UMLS:C0026847 ICD9:335.1 MESH:D009134 DOID:12377 GARD:0007674" +MONDO:0012756 "A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." "NCIT:C120408 SCTID:699307007 ICD9:758.39 OMIM:611913 UMLS:CN202166 GARD:0010740 ICD10CM:Q93.5 MESH:C579850 SCTID:718227006 Orphanet:261197" +MONDO:0001516 "Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person." "NCIT:C85075 EFO:0008525 ICD9:335.19 SCTID:5262007 ICD10CM:G10-G14 ICD9:335.10 UMLS:C0026847 ICD9:335.1 MESH:D009134 DOID:12377 GARD:0007674" UBERON:0000949 GO:1990613 "The joining of two lipid bilayers that surround the mitochondria." -MONDO:0001163 "A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted." "ICD10:F60.0 ICD9:301.0 SCTID:13601005 MESH:D010260 DOID:10938 NCIT:C92630" +MONDO:0001163 "A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted." "ICD9:301.0 ICD10CM:F60.0 SCTID:13601005 MESH:D010260 DOID:10938 NCIT:C92630" http://identifiers.org/hgnc/12367 NCBITaxon:1264859 "PMID:17051209 GC_ID:1 PMID:17572334 PMID:27738200" CL:0000162 "A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl." "FMA:62901 BTO:0001780" @@ -36229,27 +36202,27 @@ GO:0006942 "Any process that modulates the frequency, rate or extent of striated UBERON:0002242 NCBITaxon:6944 "GC_ID:1" UBERON:0001044 -MONDO:0015808 "Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area." "ICD9:701.8 Orphanet:178512 SCTID:404109006 ICD10:C84.0 UMLS:C1627767 NCIT:C35685" +MONDO:0015808 "Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area." "ICD9:701.8 Orphanet:178512 SCTID:404109006 ICD10CM:C84.0 UMLS:C1627767 NCIT:C35685" UBERON:0003443 CHEBI:36830 -MONDO:0015629 "A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma." "ICD10:D68.0 UMLS:C1282971 Orphanet:166087 NCIT:C131687 SCTID:359717002 SCTID:359721009 OMIM:613554" -MONDO:0019121 "Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole." "SCTID:415125002 ICD9:136.3 ICD10:B59 MESH:D011020 DOID:11339 GARD:0004386 NCIT:C3334 Orphanet:723 ICD10:J17.3* ICD10:B59+ EFO:0007448 UMLS:C1535939" +MONDO:0015629 "A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma." "UMLS:C1282971 Orphanet:166087 ICD10CM:D68.0 NCIT:C131687 SCTID:359717002 SCTID:359721009 OMIM:613554" +MONDO:0019121 "Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole." "SCTID:415125002 ICD9:136.3 ICD10CM:B59 MESH:D011020 DOID:11339 ICD10EXP:B59+ GARD:0004386 NCIT:C3334 ICD10EXP:J17.3* Orphanet:723 EFO:0007448 UMLS:C1535939" http://identifiers.org/hgnc/11167 MONDO:0022552 "UMLS:C2931580 MESH:C537664" MONDO:0009759 "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene." "DOID:0080141 OMIM:257300 UMLS:CN031748" UBERON:0036073 UBERON:0000946 -MONDO:0019671 "Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." "GARD:0000225 ICD10:Q71.4 Orphanet:93321 ICD9:755.59 SCTID:48008009" +MONDO:0019671 "Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius." "GARD:0000225 Orphanet:93321 ICD9:755.59 SCTID:48008009" MONDO:0100396 "Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)" "NCIT:C122689 NCIT:C122690" http://identifiers.org/hgnc/20423 -MONDO:0015476 "ICD10:Q18.0 Orphanet:155835" +MONDO:0015476 "ICD10CM:Q18.0 Orphanet:155835" NCBITaxon:6943 "GC_ID:1" -MONDO:0017871 "UMLS:CN203920 Orphanet:319205 ICD10:E27.4" +MONDO:0017871 "ICD10CM:E27.4 UMLS:CN203920 Orphanet:319205" CL:1000479 "A Purkinje myocyte that is part of the atrioventricular node." "FMA:83386" MONDO:0060704 "UMLS:CN244929 OMIM:617977" MONDO:0005204 "An antiphospholipid syndrome that occurs as an isolated disorder." "NCIT:C61283 MESH:D016736 SCTID:239892009 EFO:0002689 ICD9:795.79 UMLS:C0409980" UBERON:0003442 -MONDO:0005475 "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms." "ICD10:G43.1 ICD9:346.00 UMLS:C0154723 OMIM:609179 OMIM:609670 SCTID:4473006 HP:0002077 MESH:D020325 ICD9:346.0 NCIT:C117005 DOID:10024 EFO:0005295 ICD10:G43.109" +MONDO:0005475 "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms." "ICD9:346.00 UMLS:C0154723 OMIM:609179 OMIM:609670 SCTID:4473006 HP:0002077 ICD9:346.0 MESH:D020325 NCIT:C117005 DOID:10024 EFO:0005295" GO:0045668 "Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation." GO:0022848 "Selectively enables the transmembrane transfer of a cation by a channel that opens upon binding acetylcholine." http://identifiers.org/hgnc/30260 @@ -36260,13 +36233,13 @@ UBERON:0036074 UBERON:0004641 MONDO:0006552 "Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds." "MESH:D005499 Wikipedia:Folliculitis ICD9:704.8 EFO:1000702 SCTID:13600006 DOID:4409 NCIT:C94408" UBERON:0000947 -MONDO:0016602 "Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency)." "UMLS:C1997910 SCTID:429735007 Orphanet:247582 ICD10:E72.2" +MONDO:0016602 "Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency)." "ICD10CM:E72.2 UMLS:C1997910 SCTID:429735007 Orphanet:247582" http://identifiers.org/hgnc/10801 -MONDO:0004960 "A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine." "DOID:7442 SCTID:109983007 ICD10:D47.2 SCTID:58648008 EFO:0000203 SCTID:277577000 MESH:D010265 MESH:D008998 NCIT:C35548" +MONDO:0004960 "A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine." "DOID:7442 SCTID:109983007 SCTID:58648008 EFO:0000203 SCTID:277577000 MESH:D010265 MESH:D008998 NCIT:C35548 ICD10CM:D47.2" MONDO:0005953 "An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction." "UMLS:C0007135 DOID:4024 NCIT:C2928 EFO:0007478 ICDO:8141/3 MESH:D002293" -MONDO:0020400 "Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported." "Orphanet:99059 ICD10:Q23.2" +MONDO:0020400 "Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported." "Orphanet:99059 ICD10CM:Q23.2" CL:1000314 "A goblet cell that is part of the epithelium of gastric cardiac gland." "FMA:263038" -MONDO:0012703 "Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." "MESH:C566908 NCIT:C148461 ICD10:Q04.3 Orphanet:171680 UMLS:CN200289 OMIM:611603" +MONDO:0012703 "Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." "MESH:C566908 NCIT:C148461 ICD10CM:Q04.3 Orphanet:171680 UMLS:CN200289 OMIM:611603" http://identifiers.org/hgnc/7508 http://identifiers.org/hgnc/20422 NCBITaxon:6942 "GC_ID:1 PMID:12386418" @@ -36274,34 +36247,34 @@ UBERON:0001046 MONDO:0015475 "Orphanet:155832 UMLS:CN226686" MONDO:0043251 "A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported." "NCIT:C3287 MESH:D009810 GARD:0007247 ICDO:9280/0" GO:0005499 "Binding to vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3)." -MONDO:0016170 "Chronic form of polyradiculoneuropathy." "ICD10:G61.8 Orphanet:208978" +MONDO:0016170 "Chronic form of polyradiculoneuropathy." "ICD10CM:G61.8 Orphanet:208978" SO:0000460 "Germline genomic DNA with the sequence for a V, D, C, or J portion of an immunoglobulin/T-cell receptor." MONDO:0020155 "Orphanet:98564" ENVO:00000128 "A valley that no longer has a surface flow of water. Typically found in either Karst (limestone) or chalk terrain." IAO:8000005 "A subset ontology module that is intended to be imported from another ontology."@en MONDO:0010489 "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene." "OMIM:300928 UMLS:C3890168" MONDO:0003058 "A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." "MESH:D008579 DOID:4594 UMLS:C1384408 NCIT:C4721 EFO:1000376" -MONDO:0007672 "Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin." "NCIT:C5350 OMIM:138000 MedDRA:10018381 UMLS:C1841984 Orphanet:83454 SCTID:715644000 UMLS:C1333987 DOID:7996 ICD10:Q27.8 MESH:C536827" +MONDO:0007672 "Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin." "NCIT:C5350 OMIM:138000 MedDRA:10018381 UMLS:C1841984 Orphanet:83454 SCTID:715644000 ICD10CM:Q27.8 UMLS:C1333987 DOID:7996 MESH:C536827" GO:0035947 "OBSOLETE. Any process that modulates the frequency, rate or extent of gluconeogenesis, by regulation of transcription from an RNA polymerase II promoter." http://identifiers.org/hgnc/10809 MONDO:0006705 "Infections with bacteria of the family BACTEROIDACEAE." "UMLS:C0085392 EFO:1000872 MESH:D016866" -MONDO:0016672 "OMIM:142470 OMIM:141749 OMIM:613566 ICD10:D57.2 UMLS:CN201912 HGNC:5153 HGNC:3627 Orphanet:251380" -MONDO:0001761 "A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis." "DOID:13628 MESH:D005236 SCTID:191172001 UMLS:C0015702 ICD10:D55.0 NCIT:C34607" -MONDO:0017280 "Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings." "UMLS:C3854478 Orphanet:283 ICD10:B88.0 GARD:0001802" +MONDO:0016672 "OMIM:142470 OMIM:141749 ICD10CM:D57.2 OMIM:613566 UMLS:CN201912 HGNC:5153 HGNC:3627 Orphanet:251380" +MONDO:0001761 "A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis." "DOID:13628 MESH:D005236 SCTID:191172001 UMLS:C0015702 NCIT:C34607" +MONDO:0017280 "Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings." "UMLS:C3854478 ICD10CM:B88.0 Orphanet:283 GARD:0001802" MONDO:0007816 "OMIM:146850 UMLS:C1840264" -MONDO:0008019 "Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina." "UMLS:C2675014 Orphanet:247768 OMIM:158330 ICD10:Q51.8 DOID:0111526 Orphanet:3109 NCIT:C120376 MESH:C567186" +MONDO:0008019 "Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina." "UMLS:C2675014 Orphanet:247768 OMIM:158330 DOID:0111526 Orphanet:3109 ICD10CM:Q51.8 NCIT:C120376 MESH:C567186" http://identifiers.org/hgnc/1673 UBERON:0001041 GO:0004807 "Catalysis of the reaction: D-glyceraldehyde 3-phosphate = glycerone phosphate." CL:1000327 "A goblet cell that is part of the epithelium proper of appendix." "FMA:263069" -MONDO:0007813 "Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth." "UMLS:C0432306 SCTID:254169002 UMLS:C1838440 DOID:0060877 GARD:0002966 MESH:D053560 NCIT:C84777 OMIM:146800 Orphanet:455 ICD10:Q80.8" +MONDO:0007813 "Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth." "UMLS:C0432306 SCTID:254169002 ICD10CM:Q80.8 UMLS:C1838440 DOID:0060877 GARD:0002966 MESH:D053560 NCIT:C84777 OMIM:146800 Orphanet:455" ENVO:01001000 "An environmental system which is determined by a living organism." -MONDO:0001810 "A disease involving the hypoglossal nerve." "NCIT:C26954 DOID:13814 ICD9:352.5 SCTID:24777009 ICD10:G52.3 UMLS:C0152181 MESH:D020437" +MONDO:0001810 "A disease involving the hypoglossal nerve." "NCIT:C26954 DOID:13814 ICD9:352.5 SCTID:24777009 UMLS:C0152181 MESH:D020437" ENVO:00005750 "A portion of soil which is found in a grassland." CHEBI:35346 "Any 11-hydroxy steroid in which the hydroxy group at position 11 has beta- configuration." MONDO:0013801 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene." "SCTID:765170001 DOID:0080445 GARD:0013085 OMIM:614558 UMLS:C3281191" http://identifiers.org/hgnc/30262 -MONDO:0006447 "A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." "DOID:4086 ICD10:C62.1 UMLS:CN204702 EFO:1000570 NCIT:C9313 OMIM:273300 ICDO:9065/3 Orphanet:363494 UMLS:C1336724" +MONDO:0006447 "A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." "ICD10CM:C62.1 DOID:4086 UMLS:CN204702 EFO:1000570 NCIT:C9313 OMIM:273300 ICDO:9065/3 Orphanet:363494 UMLS:C1336724" MONDO:0020156 "UMLS:CN227801 Orphanet:98565" PATO:0002071 "An affinity which is relatively high." http://identifiers.org/hgnc/6307 @@ -36310,32 +36283,32 @@ MONDO:0004357 "A carcinoma of the larynx that arises from the supraglottic area. MONDO:0014814 "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene." "DOID:0110013 UMLS:C4225169 OMIM:616882" http://identifiers.org/hgnc/10808 MONDO:0007270 "Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene." "MESH:C566168 UMLS:C1861861 Orphanet:75249 DOID:0111425 OMIM:115210" -MONDO:0016671 "Orphanet:251375 ICD10:D57.2 UMLS:C0272085" +MONDO:0016671 "Orphanet:251375 ICD10CM:D57.2 UMLS:C0272085" MONDO:0022557 "MESH:C537670" -MONDO:0009945 "A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6)." "Orphanet:3006 ICD10:G40.8 UMLS:C1849508 OMIM:266100 OMIM:617290 SCTID:734434007 MESH:C536254 GARD:0009298 UMLS:CN203406" +MONDO:0009945 "A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6)." "Orphanet:3006 UMLS:C1849508 OMIM:266100 OMIM:617290 SCTID:734434007 MESH:C536254 GARD:0009298 UMLS:CN203406" http://identifiers.org/hgnc/9069 MONDO:0004232 "A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization." "NCIT:C40357 DOID:7461 UMLS:C1519486" CL:0002267 "A type D cell found in the stomach." "FMA:83410" NCBITaxon:127916 "GC_ID:1 PMID:10449446 PMID:12142489 PMID:8876236" GO:0010673 "Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle." -MONDO:0016238 "Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia)." "MESH:D054364 NCIT:C7634 MedDRA:10018825 UMLS:C1266119 ONCOTREE:SFT ICDO:8815/1 OMIM:234820 Orphanet:2126 ICD10:D21.9 ICDO:8815/0 ICD9:238.1 ICDO:9051/0" +MONDO:0016238 "Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia)." "MESH:D054364 NCIT:C7634 MedDRA:10018825 UMLS:C1266119 ONCOTREE:SFT ICDO:8815/1 OMIM:234820 Orphanet:2126 ICD10CM:D21.9 ICDO:8815/0 ICD9:238.1 ICDO:9051/0" UBERON:0000945 -MONDO:0015744 "Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations." "Orphanet:1717 SCTID:766052008 ICD10:Q92.3" +MONDO:0015744 "Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations." "Orphanet:1717 SCTID:766052008" UBERON:0001040 -MONDO:0020535 "House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis." "UMLS:C4511048 ICD10:J67.8 SCTID:725415009 Orphanet:99907" +MONDO:0020535 "House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis." "UMLS:C4511048 ICD10CM:J67.8 SCTID:725415009 Orphanet:99907" MONDO:0009119 "UMLS:C1857228 OMIM:223320 MESH:C565620" -MONDO:0017870 "ICD10:Q25.6 Orphanet:3192 GARD:0004594" +MONDO:0017870 "Orphanet:3192 GARD:0004594" http://identifiers.org/hgnc/2873 -MONDO:0005984 "Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum." "ICD9:110.4 UMLS:C0040259 EFO:0007512 DOID:12403 MESH:D014008 SCTID:6020002 ICD10:B35.3" +MONDO:0005984 "Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum." "ICD9:110.4 UMLS:C0040259 ICD10CM:B35.3 EFO:0007512 DOID:12403 MESH:D014008 SCTID:6020002" MONDO:0020157 "UMLS:CN227802 Orphanet:98566" -MONDO:0012656 "Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement." "OMIM:611369 DOID:0060653 SCTID:715420005 OMIM:614915 ICD10:Q68.8 UMLS:C1969655 Orphanet:137783 GARD:0012644 UMLS:C4275144 MESH:C566961" +MONDO:0012656 "Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement." "OMIM:611369 DOID:0060653 SCTID:715420005 OMIM:614915 UMLS:C1969655 Orphanet:137783 GARD:0012644 UMLS:C4275144 MESH:C566961 ICD10CM:Q68.8" HP:0002063 "Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity." "MSH:D009127 UMLS:C0026837 SNOMEDCT_US:16046003" GO:0042752 "Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours." http://identifiers.org/hgnc/15965 http://identifiers.org/hgnc/9066 MONDO:0014457 "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene." "UMLS:C4014958 OMIM:616025 Orphanet:247262" http://identifiers.org/hgnc/8967 -MONDO:0016670 "MedDRA:10056724 ICD10:D57.2 UMLS:C0272084 Orphanet:251370 GARD:0012458" +MONDO:0016670 "ICD10CM:D57.2 MedDRA:10056724 UMLS:C0272084 Orphanet:251370 GARD:0012458" NCBITaxon:455381 "GC_ID:1" MONDO:0022556 "GARD:0004021" UBERON:0000941 @@ -36345,8 +36318,8 @@ MONDO:0043994 "Acute inflammation of the gallbladder." "NCIT:C35152 MESH:D041881 MONDO:0006197 "A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." "EFO:1000239 DOID:7139 NCIT:C40155 UMLS:C1516858" UBERON:0001043 UBERON:0010522 -MONDO:0017998 "Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene." "Orphanet:329303 ICD10:G23.0 GARD:0012567" -MONDO:0005672 "Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant." "GARD:0005931 SCTID:191950004 UMLS:C0005716 NCIT:C34429 ICD10:B40 EFO:0007174 ICD9:116 MESH:D001759 DOID:12663 CSP:1988-4119 ICD10:B40.9 UMLS:C0005717 ICD9:116.0" +MONDO:0017998 "Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene." "Orphanet:329303 ICD10CM:G23.0 GARD:0012567" +MONDO:0005672 "Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant." "GARD:0005931 ICD10CM:B40 SCTID:191950004 UMLS:C0005716 NCIT:C34429 EFO:0007174 ICD9:116 MESH:D001759 DOID:12663 CSP:1988-4119 UMLS:C0005717 ICD9:116.0" http://identifiers.org/hgnc/1675 http://identifiers.org/hgnc/188 MONDO:0021060 "Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction." "Orphanet:536391 EFO:1001502" @@ -36354,13 +36327,13 @@ MONDO:0015472 GO:0051459 "Any process that modulates the frequency, rate or extent of the regulated release of corticotropic hormone from a cell." NCBITaxon:6947 "GC_ID:1" GO:0051047 "Any process that activates or increases the frequency, rate or extent of the controlled release of a substance from a cell or a tissue." -MONDO:0100114 "Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy." "MEDDRA:10075567" +MONDO:0100114 "Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy." "MedDRA:10075567" NCBITaxon:9443 "GC_ID:1" UBERON:0002241 MONDO:0009118 "MESH:C565621 UMLS:C1857229 OMIM:223300" MONDO:0020158 "UMLS:CN227803 Orphanet:98567" MONDO:0002040 "Superficial infections of the skin or its appendages by any of various fungi." "SCTID:47382004 ICD9:111 DOID:1563 UMLS:C0011630 MESH:D003881 ICD9:111.9" -MONDO:0016688 "The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)" "UMLS:C0334582 MedDRA:10065889 DOID:6726 NCIT:C4322 MESH:D001254 ICD10:C71.9 ICDO:9420/3 Orphanet:251601" +MONDO:0016688 "The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)" "UMLS:C0334582 MedDRA:10065889 DOID:6726 NCIT:C4322 ICD10CM:C71.9 MESH:D001254 ICDO:9420/3 Orphanet:251601" http://identifiers.org/hgnc/15964 MONDO:0022555 "UMLS:C2931581 MESH:C537665" http://identifiers.org/hgnc/9067 @@ -36371,7 +36344,7 @@ http://identifiers.org/hgnc/1674 MONDO:0014383 "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene." "UMLS:C4014557 OMIM:615883 Orphanet:2593" NCBITaxon:6946 "GC_ID:1" MONDO:0013408 "A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance." "SCTID:723334006 UMLS:C4509831 OMIM:613759 UMLS:C3151062 Orphanet:306550" -MONDO:0015471 "SCTID:715425000 Orphanet:1544 UMLS:C4275141 ICD10:G40.8" +MONDO:0015471 "ICD10CM:G40.8 SCTID:715425000 Orphanet:1544 UMLS:C4275141" MONDO:0009117 "OMIM:223200 UMLS:C1857230" UBERON:0002240 MONDO:0006974 "A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm." "ICDO:8803/3 MESH:D018228 UMLS:C0206652 EFO:1001184 NCIT:C3746 DOID:3098" @@ -36388,50 +36361,50 @@ MONDO:0100139 "OBSOLETE. A COVID-19 infection where individuals test positive fo http://identifiers.org/hgnc/12382 MONDO:0014645 "BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N 3.5 mM) from birth and associated with major hyperparathyroidism." "ICD10:E21.0 UMLS:C1832615 SCTID:715218009 MESH:C563375 NCIT:C131853 Orphanet:417 OMIM:239200 GARD:0002838" +MONDO:0009397 "Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism." "UMLS:C1832615 ICD10CM:E21.0 SCTID:715218009 MESH:C563375 NCIT:C131853 Orphanet:417 OMIM:239200 GARD:0002838" HP:0001651 "The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left." "EPCC:02.01.02 MSH:D003914 Fyler:0110 UMLS:C0011813 Fyler:110 ICD-10:Q24.0 SNOMEDCT_US:27637000" GO:0045578 "Any process that stops, prevents, or reduces the frequency, rate or extent of B cell differentiation." FOODON:03460225 "http://www.langual.org/langual_thesaurus.asp?termid=H0225" UBERON:0009709 MONDO:0008367 "MESH:C535298 UMLS:C1867339 GARD:0010013 OMIM:179700" -MONDO:0018992 "Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease." "MedDRA:10039142 NCIT:C35827 Orphanet:64744 SCTID:89024000 ICD10:E06.5 UMLS:C1335787 DOID:14351" +MONDO:0018992 "Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease." "MedDRA:10039142 NCIT:C35827 Orphanet:64744 SCTID:89024000 UMLS:C1335787 DOID:14351 ICD10CM:E06.5" UBERON:0014404 ENVO:09000007 "The concentration of a carbon atom when measured in environmental material." MONDO:0006892 "A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial)." "DOID:3330 EFO:1001090 MESH:D020937" MONDO:0002301 "A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis." "UMLS:C1333646 SCTID:707356001 DOID:2441 NCIT:C6067" -MONDO:0017907 "Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare." "UMLS:CN203974 ICD10:C85.7 SCTID:763477007 Orphanet:319667" +MONDO:0017907 "Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare." "UMLS:CN203974 SCTID:763477007 Orphanet:319667" MONDO:0009536 "MESH:C565431 UMLS:C1855474 OMIM:247450" -MONDO:0016866 "ICD10:Q93.5 Orphanet:261766" +MONDO:0016866 "ICD10CM:Q93.5 Orphanet:261766" http://identifiers.org/hgnc/9008 -MONDO:0000270 "A disease involving the lower respiratory tract." "ICD9:478.19 DOID:0050161 UMLS:C1290325 SCTID:128272009 ICD9:478.1" +MONDO:0000270 "A disease involving the lower respiratory tract." "ICD9:478.19 DOID:0050161 UMLS:C1290325 SCTID:128272009 ICD10CM:J85-J86 ICD9:478.1 ICD10CM:J40-J47 ICD10CM:J20-J22" http://identifiers.org/hgnc/13156 UBERON:0035286 CHEBI:25000 "Any cyclic carboxylic ester containing a 1-oxacycloalkan-2-one structure, or an analogue having unsaturation or heteroatoms replacing one or more carbon atoms of the ring." @@ -42650,18 +42619,18 @@ UBERON:0034922 MONDO:0100063 "A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation." GO:0098856 "Any process in which lipids are taken up from the contents of the intestine." GO:0032501 "Any biological process, occurring at the level of a multicellular organism, pertinent to its function." -MONDO:0008338 "MESH:C566739 ICD10:Q79.8 GARD:0013058 UMLS:C1867440 Orphanet:65743 OMIM:178110" -MONDO:0010759 "Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness." "MedDRA:10069402 ICD10:Q87.8 GARD:0005569 Orphanet:3456 OMIM:314600 ICD9:759.89 SCTID:79665007 UMLS:C0265239" +MONDO:0008338 "MESH:C566739 GARD:0013058 UMLS:C1867440 ICD10CM:Q79.8 Orphanet:65743 OMIM:178110" +MONDO:0010759 "Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness." "MedDRA:10069402 GARD:0005569 ICD10CM:Q87.8 Orphanet:3456 OMIM:314600 ICD9:759.89 SCTID:79665007 UMLS:C0265239" CHEBI:140499 "An aluminosilicate mineral with approximate chemical composition H2Al2Si2O8.H2O. Rocks that are rich in kaolinite are known as kaolin or china clay." NCBITaxon:122377 http://identifiers.org/hgnc/29918 HP:0030875 "A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart." "UMLS:C4280730" -MONDO:0011948 "Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." "Orphanet:97249 UMLS:C1842687 MESH:C548072 GARD:0010708 ICD10:Q04.3 OMIM:608027 DOID:0060272 SCTID:718609003" -MONDO:0011487 "Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy." "ICD10:G10 OMIM:604802 Orphanet:157946 UMLS:C1858114 MESH:C565747" -MONDO:0000745 "Cessation of breathing and/or cardiac function." "MESH:D006323 UMLS:C0018790 ICD9:427.5 ICD10:I46 UMLS:C0444720 SCTID:410429000 NCIT:C50479 NCIT:C50483 DOID:0060319" +MONDO:0011948 "Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." "Orphanet:97249 UMLS:C1842687 MESH:C548072 GARD:0010708 OMIM:608027 DOID:0060272 SCTID:718609003 ICD10CM:Q04.3" +MONDO:0011487 "Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy." "OMIM:604802 ICD10CM:G10 Orphanet:157946 UMLS:C1858114 MESH:C565747" +MONDO:0000745 "Cessation of breathing and/or cardiac function." "MESH:D006323 UMLS:C0018790 ICD9:427.5 UMLS:C0444720 SCTID:410429000 NCIT:C50479 NCIT:C50483 ICD10CM:I46 DOID:0060319" MONDO:0006347 "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." "NCIT:C95582 UMLS:C2987239 EFO:1000442" MONDO:0009535 "UMLS:C1855475 MESH:C565432 OMIM:247440 Orphanet:79452" -MONDO:0016865 "UMLS:CN202210 Orphanet:261652 ICD10:Q87.8" +MONDO:0016865 "ICD10CM:Q87.8 UMLS:CN202210 Orphanet:261652" http://identifiers.org/hgnc/9009 NCBITaxon:53550 "GC_ID:1" MONDO:0021639 "A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma." "UMLS:C4330050 NCIT:C132505" @@ -42669,26 +42638,26 @@ MONDO:0014480 "OMIM:616067 Orphanet:251510 DOID:0111770 UMLS:C4015129" UBERON:0034921 MONDO:0000451 "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous." "MESH:D020528 SCTID:428700003 DOID:0050784 UMLS:C0751964 EFO:0008520" MONDO:0003895 "An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma." "ICDO:9193/3 UMLS:C1377843 NCIT:C8970 ONCOTREE:PEOS DOID:6489" -MONDO:0010683 "X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." "ICD10:G71.2 Orphanet:596 SCTID:46804001 NCIT:C118781 UMLS:C0410203 DOID:0111225 OMIM:310400 GARD:0011925" -MONDO:0010086 "OBSOLETE. Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource." "SCTID:51178009 ICD10:R95 OMIM:272120 ICD9:798.0 GARD:0007711 MESH:D013398 UMLS:C0038644 DOID:9007 EFO:0005303 MedDRA:10042439 NCIT:C85173" +MONDO:0010683 "X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." "Orphanet:596 SCTID:46804001 NCIT:C118781 UMLS:C0410203 ICD10CM:G71.2 DOID:0111225 OMIM:310400 GARD:0011925" +MONDO:0010086 "OBSOLETE. Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource." "SCTID:51178009 NCIT:C85173 MedDRA:10042439 OMIM:272120 GARD:0007711 DOID:9007 EFO:0005303 MESH:D013398 ICD10CM:R95 ICD9:798.0 UMLS:C0038644" GO:0100023 "OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates meiotic nuclear division." ENVO:03000111 "A mass of snow." CHEBI:131699 "A DNA polymerase inhibitor that interferes with the action of a DNA-directed DNA polymerase (EC 2.7.7.7)." MONDO:0005932 "A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals." "MESH:D011557 UMLS:C0033839 EFO:0007457" MONDO:0044205 "Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400)." "UMLS:CN244554 OMIM:617941" GO:0042827 "Electron-dense granule occurring in blood platelets that stores and secretes adenosine nucleotides and serotonin. They contain a highly condensed core consisting of serotonin, histamine, calcium, magnesium, ATP, ADP, pyrophosphate and membrane lysosomal proteins." -MONDO:0008896 "Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." "UMLS:C1859371 MESH:C537966 OMIM:211890 Orphanet:1318 SCTID:720599002 ICD10:Q87.8 GARD:0001061" +MONDO:0008896 "Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." "UMLS:C1859371 MESH:C537966 OMIM:211890 Orphanet:1318 ICD10CM:Q87.8 SCTID:720599002 GARD:0001061" MONDO:0009534 "OMIM:247430 MESH:C565433" -MONDO:0016864 "UMLS:CN202209 Orphanet:261647 ICD10:Q87.8" +MONDO:0016864 "UMLS:CN202209 Orphanet:261647 ICD10CM:Q87.8" HP:0011390 "A structural anomaly of the internal part of the ear." "UMLS:C4023381" MONDO:0005476 "A disease involving the atrioventricular node." "EFO:0005305" http://identifiers.org/hgnc/9006 MONDO:0044083 "Opportunistic fungal infection by a member of Alternaria genus." "SCTID:238436005 MESH:D060487 EFO:1001893" UBERON:0015875 -MONDO:0011142 "Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations." "GARD:0000545 SCTID:720860004 ICD10:Q79.6 OMIM:615539 GARD:0008486 MESH:C000600608 Orphanet:2953" +MONDO:0011142 "Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations." "GARD:0000545 SCTID:720860004 OMIM:615539 ICD10CM:Q79.6 GARD:0008486 OMIM:601776 MESH:C000600608 Orphanet:2953" MONDO:0019361 CHEBI:23367 "Any constitutionally or isotopically distinct atom, molecule, ion, ion pair, radical, radical ion, complex, conformer etc., identifiable as a separately distinguishable entity." -MONDO:0011721 "Orphanet:178400 MESH:C564664 DOID:0111187 UMLS:C1847532 OMIM:606768 ICD10:G71.0" +MONDO:0011721 "Orphanet:178400 MESH:C564664 DOID:0111187 ICD10CM:G71.0 UMLS:C1847532 OMIM:606768" MONDO:0005630 "A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs." "UMLS:C0001247 EFO:0007127 DOID:4974 SCTID:16140007 MESH:D000187" MONDO:0008336 "OMIM:177990 MESH:C566741 UMLS:C1867442" MONDO:0025003 "Diseases of the domestic or wild goat of the genus Capra." "MESH:D015511 UMLS:C0018018" @@ -42698,64 +42667,64 @@ HP:0100963 "Increased sensitivity to stimulation, excluding the special senses, CL:0000339 "An early neural cell developing from the early ependymal cell of the neural tube." "FMA:70564" MONDO:0009799 UBERON:0009744 -MONDO:0016217 "Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train." "MedDRA:10064924 ICD10:H81.8 SCTID:446079007 Orphanet:210272 UMLS:C1608983 GARD:0006959" -MONDO:0001748 "A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma." "NCIT:C3540 NCIT:C9332 ICD9:160.2 ICD10:C31.0 DOID:1357 SCTID:363425008" +MONDO:0016217 "Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train." "MedDRA:10064924 SCTID:446079007 Orphanet:210272 UMLS:C1608983 ICD10CM:H81.8 GARD:0006959" +MONDO:0001748 "A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma." "NCIT:C3540 NCIT:C9332 ICD9:160.2 DOID:1357 SCTID:363425008" UBERON:0013479 -MONDO:0015494 "A dystonia (disease) that is not part of a larger syndrome." "Orphanet:156159 ICD10:G24.1" +MONDO:0015494 "A dystonia (disease) that is not part of a larger syndrome." "Orphanet:156159 ICD10CM:G24.1" MONDO:0003936 "An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium." "NCIT:C9135 UMLS:C1328544 DOID:6587" -MONDO:0005739 "Infection by flukes of the genus Echinostoma." "SCTID:52918004 DOID:1218 ICD10:B66.8 MESH:D004451 UMLS:C0013514 ICD9:121.8 EFO:0007246" -MONDO:0016863 "UMLS:CN202208 ICD10:Q87.8 Orphanet:261638" +MONDO:0005739 "Infection by flukes of the genus Echinostoma." "SCTID:52918004 DOID:1218 MESH:D004451 UMLS:C0013514 ICD9:121.8 EFO:0007246" +MONDO:0016863 "UMLS:CN202208 ICD10CM:Q87.8 Orphanet:261638" MONDO:0012879 "A schizophrenia that has material basis in a mutation on chromosome 2q32.1." "UMLS:C2677614 DOID:0070090 OMIM:612361" NCBITaxon:173087 "GC_ID:1" -MONDO:0019360 "DOID:11103 Orphanet:83312 ICD10:A79.1 MedDRA:10039137 SCTID:75096007 ICD9:083.2 UMLS:C0035597" +MONDO:0019360 "DOID:11103 Orphanet:83312 MedDRA:10039137 SCTID:75096007 ICD9:083.2 UMLS:C0035597" GO:0070327 "The directed movement of thyroid hormone into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." MONDO:0002879 "A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma." "UMLS:C1334628 DOID:4114 NCIT:C6311" MONDO:0002343 "A hemangioma arising from the spleen." "SCTID:93472004 NCIT:C8541 UMLS:C0685201 DOID:256" MONDO:0013284 "OMIM:613494 Orphanet:1572 UMLS:C3150739" -MONDO:0018161 "Orphanet:357034 UMLS:CN204600 ICD10:C69.2" -MONDO:0008908 "MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21)." "MESH:C535752 OMIM:212066 UMLS:C2931008 DOID:0070253 ICD10:E77.8 GARD:0009828 SCTID:724142005 Orphanet:79329" +MONDO:0018161 "Orphanet:357034 ICD10CM:C69.2 UMLS:CN204600" +MONDO:0008908 "MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21)." "MESH:C535752 OMIM:212066 UMLS:C2931008 ICD10CM:E77.8 DOID:0070253 GARD:0009828 SCTID:724142005 Orphanet:79329" MONDO:0004310 "An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults." "UMLS:C0281330 NCIT:C8290 DOID:7631" -MONDO:0020416 "Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections)." "ICD10:Q25.4 SCTID:766751007 Orphanet:99078" +MONDO:0020416 "Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections)." "ICD10CM:Q25.4 SCTID:766751007 Orphanet:99078" GO:2000035 "Any process that modulates the frequency, rate or extent of stem cell division." http://identifiers.org/hgnc/7708 -MONDO:0018623 "Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly." "SCTID:18260003 ICD10:F53.1 Orphanet:443173 ICD10:F53 ICD9:648.44" +MONDO:0018623 "Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly." "SCTID:18260003 ICD10CM:F53 Orphanet:443173 ICD9:648.44 ICD10CM:F53.1" CL:0011022 "A fibroblast that is part of skin of back." http://identifiers.org/hgnc/9004 UBERON:0013478 -MONDO:0014483 "OMIM:616079 ICD10:H35.5 Orphanet:397758 UMLS:C4015146" +MONDO:0014483 "OMIM:616079 ICD10CM:H35.5 Orphanet:397758 UMLS:C4015146" MONDO:0004176 "An osteosarcoma arising from the soft tissue, and occurring during childhood." "UMLS:C1332968 NCIT:C27376 DOID:7297" -MONDO:0016862 "ICD10:Q44.7 UMLS:CN202206 UMLS:C1956125 Orphanet:261619 OMIM:118450" +MONDO:0016862 "UMLS:CN202206 UMLS:C1956125 Orphanet:261619 ICD10CM:Q44.7 OMIM:118450" UBERON:0015873 UBERON:0010977 NBO:0000010 "Behavior directly related to the production of offspring [NBO:AC]" UBERON:0009749 UBERON:0034926 MONDO:0013420 "Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene." "DOID:0110024 UMLS:C3151079 OMIM:613784" -MONDO:0005990 "A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." "UMLS:C0264322 ICD9:464.1 ICD10:J04.1 EFO:0007518 MESH:D014136 UMLS:C0149513 NCIT:C78643 UMLS:C0040584 SCTID:62994001 DOID:9392" -MONDO:0005137 "Any condition related to a disturbance between proper intake and utilization of nourishment." "EFO:0001069 MESH:D009748 ICD9:783.9 SCTID:2492009 DOID:374 UMLS:C3714509 NCIT:C26836" +MONDO:0005990 "A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." "UMLS:C0264322 ICD9:464.1 EFO:0007518 MESH:D014136 UMLS:C0149513 NCIT:C78643 ICD10CM:J04.1 UMLS:C0040584 SCTID:62994001 DOID:9392" +MONDO:0005137 "Any condition related to a disturbance between proper intake and utilization of nourishment." "EFO:0001069 MESH:D009748 ICD9:783.9 SCTID:2492009 DOID:374 ICD10CM:E00-E89 UMLS:C3714509 NCIT:C26836" http://identifiers.org/hgnc/14357 NCBITaxon:10294 "GC_ID:1" -MONDO:0013962 "A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A." "SCTID:723823004 UMLS:C4510082 DOID:0110805 ICD10:G11.4 UMLS:C3539494 OMIM:614898 Orphanet:319199" +MONDO:0013962 "A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A." "SCTID:723823004 UMLS:C4510082 ICD10CM:G11.4 DOID:0110805 UMLS:C3539494 OMIM:614898 Orphanet:319199" PATO:0001995 "A quality that inheres in an entire organism or part of an organism." -MONDO:0015695 "A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency." "OMIM:612782 SCTID:717811007 ICD10:D81.8 OMIM:612783 Orphanet:169090" +MONDO:0015695 "A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency." "OMIM:612782 SCTID:717811007 ICD10CM:D81.8 OMIM:612783 Orphanet:169090" MONDO:0002703 "An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures." "NCIT:C5511 UMLS:C1096639 DOID:3607" UBERON:0014675 MONDO:0006208 "A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma." "UMLS:C1517124 NCIT:C40099 DOID:5598 EFO:1000253" MONDO:0033534 "OMIM:618952" -MONDO:0007414 "Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." "Orphanet:73 ICD10:M89.5 MedDRA:10071283 SCTID:1515008 GARD:0006542 ICD9:733.99 OMIM:123880" +MONDO:0007414 "Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." "Orphanet:73 MedDRA:10071283 SCTID:1515008 GARD:0006542 ICD9:733.99 ICD10CM:M89.5 OMIM:123880" MONDO:0010525 "Orphanet:268357 MESH:C536359 OMIM:301410 GARD:0000669 Orphanet:823 UMLS:C1845026" MONDO:0006869 "Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones." "EFO:1001062 SCTID:237570007 DOID:13197 MESH:D006044 HP:0005994 MedDRA:10018495 SCTID:419153005 UMLS:C0018023 NCIT:C131437" -MONDO:0019193 "Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles)." "GARD:0012603 ICD10:E88.1 Orphanet:79086 SCTID:86907008 NCIT:C131089 UMLS:C0271693 DOID:0080300" -MONDO:0007138 "Orphanet:88632 OMIM:107250 DOID:0060605 UMLS:C1862839 ICD10:Q13.8" -MONDO:0009773 "A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair." "SCTID:403762003 OMIM:257980 MESH:C537742 ICD10:Q82.4 UMLS:C0796093 Orphanet:2721 GARD:0004054" +MONDO:0019193 "Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles)." "DOID:0080300 GARD:0012603 Orphanet:79086 SCTID:86907008 ICD10CM:E88.1 NCIT:C131089 UMLS:C0271693" +MONDO:0007138 "Orphanet:88632 OMIM:107250 DOID:0060605 UMLS:C1862839" +MONDO:0009773 "A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair." "SCTID:403762003 OMIM:257980 MESH:C537742 UMLS:C0796093 Orphanet:2721 GARD:0004054 ICD10CM:Q82.4" UBERON:0035289 MONDO:0005787 "Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests." "SCTID:186273003 DOID:407 UMLS:C0041313 MESH:D014386 EFO:0007302 ICD9:017.90" http://identifiers.org/hgnc/9005 -MONDO:0018266 "Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present." "Orphanet:370109 UMLS:C1876175 ICD10:G11.3" +MONDO:0018266 "Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present." "Orphanet:370109 UMLS:C1876175 ICD10CM:G11.3" GO:1902932 "Any process that activates or increases the frequency, rate or extent of alcohol biosynthetic process." -MONDO:0011722 "UMLS:C1847522 OMIM:606772 ICD10:Q87.8 MESH:C564660 Orphanet:397973" -MONDO:0011911 "Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia." "UMLS:C1843042 MESH:C564332 OMIM:607812 SCTID:725100001 Orphanet:50814 ICD10:Q75.8 DOID:0070307" -MONDO:0016861 "UMLS:CN202205 OMIM:118450 Orphanet:261600 ICD10:Q44.7" +MONDO:0011722 "UMLS:C1847522 OMIM:606772 ICD10CM:Q87.8 MESH:C564660 Orphanet:397973" +MONDO:0011911 "Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia." "UMLS:C1843042 MESH:C564332 OMIM:607812 SCTID:725100001 ICD10CM:Q75.8 Orphanet:50814 DOID:0070307" +MONDO:0016861 "UMLS:CN202205 ICD10CM:Q44.7 OMIM:118450 Orphanet:261600" MONDO:0009539 "OMIM:247640 Orphanet:513 UMLS:C1855472 MESH:C565429" UBERON:0034925 PATO:0015021 "The propensity of a material to undergo combustion. Combustion encompasses smouldering and flaming combustion. Combustibility is usually applied to solids." @@ -42763,20 +42732,20 @@ UBERON:0010712 GO:0008614 "The chemical reactions and pathways involving pyridoxine, 2-methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine, one of the vitamin B6 compounds. Pyridoxal, pyridoxamine and pyridoxine are collectively known as vitamin B6, and are efficiently converted to the biologically active form of vitamin B6, pyridoxal phosphate." GO:0047598 "Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+." http://identifiers.org/hgnc/8907 -MONDO:0005557 "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization." "ICD9:275.49 DOID:10575 SCTID_2010_1_31:71638002 ICD9:275.4 MESH:D002128 SCTID_2010_1_31:190863003 EFO:0005769 ICD10:E83.5 SCTID:71638002 ICD9:275.40 UMLS:C0006705 SCTID_2010_1_31:267442002 ICD10:E83.50 SCTID_2010_1_31:190874007" +MONDO:0005557 "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization." "ICD9:275.49 DOID:10575 ICD9:275.4 MESH:D002128 EFO:0005769 SCTID:71638002 ICD9:275.40 UMLS:C0006705" MONDO:0013020 "OMIM:612851 Orphanet:2073 UMLS:C2748508" MONDO:0014477 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene." "GARD:0012391 OMIM:616056 DOID:0080461 UMLS:C4015119" ECTO:7000045 "A exposure event involving the interaction of an exposure receptor to stellar radiation." -MONDO:0011479 "A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart." "Orphanet:443236 ICD10:I95.1 EFO:1000645 SCTID:8074002 DOID:0111154 OMIM:604715" +MONDO:0011479 "A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart." "ICD10CM:I95.1 Orphanet:443236 EFO:1000645 SCTID:8074002 DOID:0111154 OMIM:604715" UBERON:0015871 MONDO:0007139 "UMLS:C1862824 OMIM:107290" -MONDO:0011707 "Familial dyskinesia and facial myokymia (FDFM) is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness." "UMLS:C1847627 SCTID:763352005 MESH:C564676 OMIM:606703 GARD:0012722 Orphanet:324588 ICD10:G51.4" +MONDO:0011707 "Familial dyskinesia and facial myokymia (FDFM) is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness." "UMLS:C1847627 SCTID:763352005 MESH:C564676 OMIM:606703 ICD10CM:G51.4 GARD:0012722 Orphanet:324588" CL:1000306 "A fibroblast that is part of the tunica adventitia of artery." "FMA:261285" GO:1900425 "Any process that stops, prevents or reduces the frequency, rate or extent of defense response to bacterium." NCBITaxon:53551 "GC_ID:1" -MONDO:0001933 "A disease involving the endocrine pancreas." "ICD10:E16 UMLS:C0271633 ICD9:251 DOID:1428 SCTID:17346000 NCIT:C27067" -MONDO:0017560 "An abnormal alignment of the knee backwards that is due to a deformity in the knee joint." "ICD10:Q68.2 Orphanet:295229 ICD9:754.40 NCIT:C103184 SCTID:205063003" -MONDO:0016860 "UMLS:CN202203 ICD10:D12.6 Orphanet:261584" +MONDO:0001933 "A disease involving the endocrine pancreas." "UMLS:C0271633 ICD9:251 DOID:1428 SCTID:17346000 NCIT:C27067" +MONDO:0017560 "An abnormal alignment of the knee backwards that is due to a deformity in the knee joint." "Orphanet:295229 ICD9:754.40 NCIT:C103184 SCTID:205063003 ICD10CM:Q68.2" +MONDO:0016860 "UMLS:CN202203 ICD10CM:D12.6 Orphanet:261584" MONDO:0009538 "UMLS:C1855473 OMIM:247630 MESH:C565430" MONDO:0011726 "OMIM:606787 MESH:C564658 UMLS:C1847493" GO:0006694 "The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification." @@ -42791,7 +42760,7 @@ CHR:9606-chr9q21 MONDO:0014087 "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene." "Orphanet:178355 OMIM:615222 UMLS:C3714896" MONDO:0012922 "OMIM:612525 UMLS:C2675862 MESH:C567283" MONDO:0002962 "A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis." "NCIT:C27516 DOID:4323 UMLS:C1333414" -MONDO:0018270 "A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy." "UMLS:C0279980 DOID:4232 ICD10:C49.9 UMLS:C1333514 NCIT:C7135 Orphanet:370334 NCIT:C27293 UMLS:CN204849" +MONDO:0018270 "A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy." "UMLS:C0279980 DOID:4232 UMLS:C1333514 NCIT:C7135 Orphanet:370334 NCIT:C27293 ICD10CM:C49.9 UMLS:CN204849" MONDO:0015662 "UMLS:CN226721 Orphanet:166775" UBERON:0000092 "stage succeeding embryo, including mature structure" MONDO:0010527 "OMIM:301590" @@ -42805,30 +42774,30 @@ GO:0008119 "Catalysis of the reaction: S-adenosyl-L-methionine + a thiopurine = NCBITaxon:122378 "GC_ID:1" MONDO:0020575 "A ventricular tachycardia that is irregular in rate and rhythm." "UMLS:C0344432 NCIT:C111648 SCTID:251159007 HP:0031677" NCBITaxon:10293 "GC_ID:1" -MONDO:0011912 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." "OMIM:607821 DOID:0110495 ICD10:H90.3 MESH:C564331 UMLS:C1843028" +MONDO:0011912 "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." "OMIM:607821 DOID:0110495 MESH:C564331 UMLS:C1843028" MONDO:0024533 "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene." "Orphanet:422 OMIM:178600 UMLS:C3203102" MONDO:0000480 "A focal dystonia of the pelvic floor muscles during attempted defecation." "UMLS:C0267601 DOID:0050839 SCTID:83605009 ICD9:569.49" -MONDO:0001361 "Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)" "MESH:D009759 SCTID:45339001 UMLS:C0271384 DOID:11771 ICD10:H55.03 ICD9:379.53" +MONDO:0001361 "Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)" "MESH:D009759 SCTID:45339001 ICD10CM:H55.03 UMLS:C0271384 DOID:11771 ICD9:379.53" MONDO:0014365 "Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene." "OMIM:615841 Orphanet:399805 DOID:0070182 UMLS:C4014449" MONDO:0013022 "OMIM:612853" MONDO:0033537 "OMIM:618958" MONDO:0008339 "OMIM:178200 Orphanet:2987 GARD:0004570 UMLS:C1867439 MESH:C566738" CHR:9606-chr9q22 -MONDO:0001461 "A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin." "ICD9:110.5 SCTID:84849002 UMLS:C0546826 ICD10:B35.4 UMLS:C0040252 DOID:12179" +MONDO:0001461 "A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin." "ICD9:110.5 SCTID:84849002 UMLS:C0546826 UMLS:C0040252 ICD10CM:B35.4 DOID:12179" UBERON:0004849 -MONDO:0005345 "Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce." "ICD10:Q54.9 ICD10:Q54.3 UMLS:C0848558 NCIT:C40341 OMIM:146450 ICD10:Q54 Orphanet:440 MESH:D007021 SCTID:416010008 ICD9:752.61 OMIM:300758 ICD10:Q54.0 HP:0000047 UMLS:CN205090 ICD10:Q54.8 ICD10:Q54.2 DOID:10892 ICD10:Q54.4 OMIM:300856 OMIMPS:300633 OMIM:300633 ICD10:Q54.1 GARD:0002929 EFO:0004209" +MONDO:0005345 "Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce." "UMLS:C0848558 ICD10CM:Q54.8 NCIT:C40341 OMIM:146450 ICD10CM:Q54.2 Orphanet:440 ICD10CM:Q54.9 MESH:D007021 SCTID:416010008 ICD9:752.61 OMIM:300758 ICD10CM:Q54.0 HP:0000047 UMLS:CN205090 ICD10CM:Q54.1 ICD10CM:Q54.4 DOID:10892 ICD10CM:Q54.3 OMIM:300856 OMIMPS:300633 OMIM:300633 GARD:0002929 EFO:0004209" MONDO:0014092 "A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2." "OMIM:615232 UMLS:C3808913 DOID:0070093" CHEBI:48354 "A solvent that is composed of polar molecules. Polar solvents can dissolve ionic compounds or ionisable covalent compounds." MONDO:0001043 -MONDO:0008219 "Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which pemphigus vulgaris is the most frequent (75%)." "MedDRA:10052802 OMIM:169610 NCIT:C34910 GARD:0007355 DOID:0060851 EFO:0004719 Orphanet:704 SCTID:49420001 ICD10:L10.0 GARD:0004270 MESH:C536645 UMLS:C0030809" +MONDO:0008219 "Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which pemphigus vulgaris is the most frequent (75%)." "MedDRA:10052802 OMIM:169610 NCIT:C34910 ICD10CM:L10.0 DOID:0060851 GARD:0007355 EFO:0004719 Orphanet:704 SCTID:49420001 GARD:0004270 MESH:C536645 UMLS:C0030809" MONDO:0017805 "Orphanet:314575 UMLS:CN203768" GO:0033044 "Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a chromosome." UBERON:0014671 GO:0090305 "The nucleic acid metabolic process in which the phosphodiester bonds between nucleotides are cleaved by hydrolysis." MONDO:0032599 "OMIM:618204" -MONDO:0005700 "A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications." "EFO:0007204 ICD10:B01 DOID:8659 MESH:D002644 ICD10:B01.9 ICD9:052.9 UMLS:C0008049 NCIT:C97132 SCTID:38907003 ICD9:052" +MONDO:0005700 "A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications." "EFO:0007204 DOID:8659 MESH:D002644 ICD9:052.9 UMLS:C0008049 NCIT:C97132 SCTID:38907003 ICD9:052" MONDO:0015108 "OBSOLETE. Rare non-syndromic intellectual disability." "Orphanet:101685 GARD:0012633 UMLS:CN226598" -MONDO:0008251 "A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists." "GARD:0007401 MESH:D010916 UMLS:C2930842 Orphanet:2897 MESH:C531784 SCTID:3755001 ICD9:696.4 OMIM:173200 UMLS:C0032027 NCIT:C85014 MedDRA:10035116 ICD10:L44.0 DOID:9212" +MONDO:0008251 "A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists." "GARD:0007401 MESH:D010916 UMLS:C2930842 Orphanet:2897 ICD10CM:L44.0 MESH:C531784 SCTID:3755001 ICD9:696.4 OMIM:173200 UMLS:C0032027 NCIT:C85014 MedDRA:10035116 DOID:9212" UBERON:0036225 UBERON:0012276 UBERON:0015870 @@ -42837,7 +42806,7 @@ http://identifiers.org/hgnc/11851 MONDO:0013331 "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene." "UMLS:C3150889 OMIM:613625 Orphanet:35909" http://identifiers.org/hgnc/29079 MONDO:0000943 "ICD9:371.62 SCTID:111523009 UMLS:C0339286 DOID:10125" -MONDO:0010213 "An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer." "NCIT:C114771 ICD10:Q82.1 DOID:0110846 SCTID:56048001 MESH:C564732 Orphanet:276261 Orphanet:910 UMLS:C1848411 GARD:0005627 OMIM:278740" +MONDO:0010213 "An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer." "NCIT:C114771 ICD10CM:Q82.1 DOID:0110846 SCTID:56048001 MESH:C564732 Orphanet:276261 Orphanet:910 UMLS:C1848411 GARD:0005627 OMIM:278740" GO:0006695 "The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones." GO:0047453 "Catalysis of the reaction: (6S)-6beta-hydroxy-1,4,5,6-tetrahydronicotinamide adenine dinucleotide + ATP = ADP + 3 H(+) + NADH + phosphate." MONDO:0000944 "ICD9:434 ICD9:434.91 ICD9:434.90 DOID:10127 ICD9:434.9 SCTID:20059004" @@ -42845,36 +42814,36 @@ MONDO:0032598 "OMIM:618201" NCBITaxon:5583 "GC_ID:1" GO:0005743 "The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae." UBERON:0012275 -MONDO:0011902 "A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).." "MESH:C537987 DOID:0110149 GARD:0009191 OMIM:607734 UMLS:C1843164 ICD10:G60.0 SCTID:719980006 Orphanet:101085" +MONDO:0011902 "A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).." "MESH:C537987 ICD10CM:G60.0 DOID:0110149 GARD:0009191 OMIM:607734 UMLS:C1843164 SCTID:719980006 Orphanet:101085" CL:0002078 "Epithelial cell derived from mesoderm or mesenchyme." "FMA:69076" MONDO:0033533 "OMIM:618951" -MONDO:0018168 "UMLS:CN204616 Orphanet:357225 ICD10:Q82.8" +MONDO:0018168 "UMLS:CN204616 Orphanet:357225 ICD10CM:Q82.8" UBERON:0013472 MONDO:0013756 "Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene." "Orphanet:2796 OMIM:614441 UMLS:C3280800" MONDO:0004695 "A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma." "NCIT:C4949 UMLS:C1112746 DOID:901" -MONDO:0001116 "Inflammation of the mesenteric lymph nodes." "MESH:D008640 UMLS:C0025469 SCTID:44897000 ICD9:289.2 NCIT:C26830 ICD10:I88.0 DOID:10782" +MONDO:0001116 "Inflammation of the mesenteric lymph nodes." "MESH:D008640 UMLS:C0025469 SCTID:44897000 ICD9:289.2 NCIT:C26830 DOID:10782" http://identifiers.org/hgnc/11850 GO:2000833 "Any process that activates or increases the frequency, rate or extent of steroid hormone secretion." -MONDO:0005916 "The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)" "EFO:0007440 ICD10:O43.21 NCIT:C26856 SCTID:70129008 DOID:4744 MESH:D010921" -MONDO:0013027 "Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." "OMIM:612868 UMLS:C2748502 ICD10:H18.5 Orphanet:98971 DOID:0060452 MESH:C567546 SCTID:719296002" +MONDO:0005916 "The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)" "EFO:0007440 NCIT:C26856 SCTID:70129008 DOID:4744 MESH:D010921" +MONDO:0013027 "Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." "OMIM:612868 ICD10CM:H18.5 UMLS:C2748502 Orphanet:98971 DOID:0060452 MESH:C567546 SCTID:719296002" GO:0046579 "Any process that activates or increases the frequency, rate or extent of Ras protein signal transduction." -MONDO:0018101 "Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." "OMIM:611718 OMIM:613882 OMIM:616418 UMLS:CN204443 SCTID:725031005 UMLS:C4510731 ICD10:E83.4 Orphanet:34527" +MONDO:0018101 "Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay." "OMIM:611718 ICD10CM:E83.4 OMIM:613882 OMIM:616418 UMLS:CN204443 SCTID:725031005 UMLS:C4510731 Orphanet:34527" MONDO:0012940 "An inflammatory bowel disease that has material basis in variation in the chromosome 20q13." "UMLS:C2675509 OMIM:612566 DOID:0110908 MESH:C567252" -MONDO:0016262 "An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." "DOID:5289 ONCOTREE:ULMS UMLS:C0280631 Orphanet:213625 SCTID:447389009 ICD10:C54.2 NCIT:C6340" +MONDO:0016262 "An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells." "ICD10CM:C54.2 DOID:5289 ONCOTREE:ULMS UMLS:C0280631 Orphanet:213625 SCTID:447389009 NCIT:C6340" UBERON:8410049 UBERON:0034928 MONDO:0017803 "UMLS:CN203766 Orphanet:314566" GO:0007346 "Any process that modulates the rate or extent of progress through the mitotic cell cycle." -MONDO:0015805 "A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism)." "ICD10:A05.1 UMLS:C1443901 DOID:0050141 SCTID:409563004 Orphanet:178481" -MONDO:0015408 "ICD10:I89.8 SCTID:703298001 Orphanet:141209 UMLS:C0343090" +MONDO:0015805 "A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism)." "UMLS:C1443901 ICD10CM:A05.1 DOID:0050141 SCTID:409563004 Orphanet:178481" +MONDO:0015408 "SCTID:703298001 Orphanet:141209 ICD10CM:I89.8 UMLS:C0343090" UBERON:0012274 MONDO:0010781 "UMLS:C1838916 DOID:0111750 MESH:C564020 OMIM:500010" http://identifiers.org/hgnc/25118 -MONDO:0019755 "A disease that has its basis in the disruption of embryonic morphogenesis." "ICD9:759.7 UMLS:CN206687 SCTID:400038003 UMLS:C1302790 NCIT:C99267 Orphanet:93890" -MONDO:0003805 "A rare neoplasm of mesothelial origin that arises from the pericardium." "UMLS:C0346110 SCTID:109383000 ICD10:C45.2 DOID:6201 NCIT:C7631 HP:0100004 UMLS:C1335381" -MONDO:0024381 "A circadian sleep disorder that results from travelling across time zones." "UMLS:C0231311 ICD10:G47.25" +MONDO:0019755 "A disease that has its basis in the disruption of embryonic morphogenesis." "ICD9:759.7 UMLS:CN206687 SCTID:400038003 UMLS:C1302790 NCIT:C99267 ICD10CM:Q80-Q89 Orphanet:93890 ICD10CM:Q00-Q99" +MONDO:0003805 "A rare neoplasm of mesothelial origin that arises from the pericardium." "SCTID:109383000 NCIT:C7631 DOID:6201 UMLS:C0346110 HP:0100004 UMLS:C1335381" +MONDO:0024381 "A circadian sleep disorder that results from travelling across time zones." "UMLS:C0231311 ICD10CM:G47.25" MONDO:0012888 "Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene." "OMIM:612387 Orphanet:797" -MONDO:0001106 "An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood." "ICD9:404.13 ICD10:N19 SCTID:42399005 NCIT:C4376 UMLS:C1565489 MESH:D051437 DOID:1074 ICD9:586 UMLS:C0035078 ICD9:404.12" +MONDO:0001106 "An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood." "ICD9:404.13 SCTID:42399005 NCIT:C4376 UMLS:C1565489 MESH:D051437 DOID:1074 ICD9:586 UMLS:C0035078 ICD9:404.12" UBERON:0010718 MONDO:0002856 "A rhabdomyosarcoma that is located in the gallbladder." "UMLS:C1333756 DOID:4057 NCIT:C5839" MONDO:0033532 "OMIM:618950" @@ -42884,18 +42853,18 @@ http://identifiers.org/hgnc/1869 GO:1903553 "Any process that activates or increases the frequency, rate or extent of extracellular vesicular exosome assembly." UBERON:8410048 HP:0011446 "Cognitive, psychiatric or memory anomaly." "UMLS:C4023352" -MONDO:0019514 "Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins." "MedDRA:10047216 NCIT:C26793 ICD9:453.89 GARD:0013004 Orphanet:890 MESH:D006504 SCTID:65617004 DOID:0080177 ICD10:K76.5 UMLS:C0019156" -MONDO:0002691 "An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma." "DOID:3571 ICD10:C22.0 UMLS:C0854795 UMLS:C0024620 GARD:0006608 ICD10:C22.9 UMLS:C0345904 ICD9:155.2 SCTID:93870000 NCIT:C34803 ICD9:155.0" +MONDO:0019514 "Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins." "MedDRA:10047216 NCIT:C26793 ICD9:453.89 GARD:0013004 Orphanet:890 MESH:D006504 SCTID:65617004 DOID:0080177 UMLS:C0019156 ICD10CM:K76.5" +MONDO:0002691 "An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma." "DOID:3571 UMLS:C0854795 UMLS:C0024620 GARD:0006608 UMLS:C0345904 ICD9:155.2 SCTID:93870000 NCIT:C34803 ICD9:155.0" MONDO:0021355 "A neoplasm (disease) that involves the esophagus." "NCIT:C3028 SCTID:126817006 UMLS:C0014859" NCBITaxon:574145 "GC_ID:1" http://identifiers.org/hgnc/29077 -MONDO:0015407 "Orphanet:141199 UMLS:CN199502 SCTID:703268008 UMLS:C3838691 ICD10:Q28.2" +MONDO:0015407 "ICD10CM:Q28.2 Orphanet:141199 UMLS:CN199502 SCTID:703268008 UMLS:C3838691" UBERON:0012273 -MONDO:0019701 "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis." "DOID:2581 MESH:D002806 OMIM:215105 SCTID:360507004 NCIT:C84632 GARD:0008542 Orphanet:93442 UMLS:C0008445 ICD10:Q77.3 ICD9:756.59" -MONDO:0010780 "UMLS:C3151898 OMIM:500009 Orphanet:254864 ICD10:G71.3" +MONDO:0019701 "A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis." "DOID:2581 MESH:D002806 OMIM:215105 SCTID:360507004 NCIT:C84632 GARD:0008542 ICD10CM:Q77.3 Orphanet:93442 UMLS:C0008445 ICD9:756.59" +MONDO:0010780 "UMLS:C3151898 OMIM:500009 ICD10CM:G71.3 Orphanet:254864" MONDO:0005491 "A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly." "MESH:D002598 EFO:0005529 ICD9:086.0 SCTID:998008" MONDO:0001141 "As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response." "DOID:10852 UMLS:C0155492 NCIT:C3655 SCTID:28371001 ICD9:385.82" -MONDO:0016604 "Orphanet:2476 UMLS:CN201798 ICD10:Q00.0 GARD:0003438" +MONDO:0016604 "Orphanet:2476 UMLS:CN201798 GARD:0003438 ICD10CM:Q00.0" UBERON:0010719 ECTO:0001659 "An exposure to chloroacetic acid." MONDO:0011981 "OMIM:608174 UMLS:C1842445" @@ -42903,25 +42872,26 @@ MONDO:0019363 MONDO:0002914 "A neoplasm that affects the brain stem and occurs during childhood." "NCIT:C5969 DOID:4206 UMLS:C1332951 EFO:1001767" http://identifiers.org/hgnc/1606 MONDO:0019205 "The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked." "UMLS:CN205796 Orphanet:79129" -MONDO:0005825 "A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure." "MedDRA:10024238 NCIT:C84825 SCTID:77377001 UMLS:C0023364 ICD10:A27.9 SCTID:398067003 ICD9:100.0 MESH:D014895 MESH:D007922 DOID:2297 ICD10:A27.0 GARD:0007881 ICD9:100.9 Orphanet:509 ICD9:100.89 EFO:0007344 ICD10:A27.8 ICD10:A27 ICD9:100" -MONDO:0015406 "UMLS:C3840102 SCTID:703267003 UMLS:CN199501 Orphanet:141194 ICD10:Q28.2" -MONDO:0017801 "Orphanet:314466 UMLS:CN203760 ICD10:D27" +MONDO:0005825 "A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure." "MedDRA:10024238 NCIT:C84825 SCTID:77377001 UMLS:C0023364 ICD10CM:A27.9 SCTID:398067003 ICD9:100.0 ICD10CM:A27 ICD10CM:A27.0 MESH:D014895 MESH:D007922 DOID:2297 GARD:0007881 ICD9:100.9 Orphanet:509 ICD9:100.89 EFO:0007344 ICD10CM:A27.8 ICD9:100" +MONDO:0006086 "A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma." "MESH:D009232 UMLS:C0027149 ICDO:8841/0 NCIT:C3254 EFO:1000087 ICD9:215.9 ICDO:8841/1 SCTID:404083008" +MONDO:0015406 "UMLS:C3840102 SCTID:703267003 ICD10CM:Q28.2 UMLS:CN199501 Orphanet:141194" +MONDO:0017801 "Orphanet:314466 ICD10CM:D27 UMLS:CN203760" MONDO:0003477 "An ependymoma that arises from the brain stem." "UMLS:C1332609 NCIT:C5098 DOID:5508" -MONDO:0004885 "A neurodegenerative disease that involves the optic choroid." "ICD9:363.4 ICD10:H31.10 SCTID:406446000 ICD9:363.40 OMIM:215500 MESH:C535358 DOID:980 ICD10:H31.1" +MONDO:0004885 "A neurodegenerative disease that involves the optic choroid." "ICD9:363.4 SCTID:406446000 ICD9:363.40 OMIM:215500 MESH:C535358 DOID:980" MONDO:0010783 "OMIM:502500" http://identifiers.org/hgnc/29914 HP:0002086 "An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles." "UMLS:C4018871" GO:0001868 "Any process that modulates the frequency, rate or extent of the lectin pathway of complement activation." GO:0012501 "A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell." -MONDO:0013762 "Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person." "UMLS:C3280887 ICD10:E88.8 GARD:0012678 OMIM:614462 Orphanet:401859" +MONDO:0013762 "Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person." "UMLS:C3280887 GARD:0012678 OMIM:614462 Orphanet:401859 ICD10CM:E88.8" MONDO:0016869 "Orphanet:261781" -MONDO:0005867 "Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar." "ICD10:J15.7 SCTID:46970008 ICD9:483.0 EFO:0007387 DOID:13276 NCIT:C122526 MESH:D011019 GARD:0007125" +MONDO:0005867 "Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar." "SCTID:46970008 ICD9:483.0 EFO:0007387 DOID:13276 NCIT:C122526 MESH:D011019 GARD:0007125" UBERON:0009742 MONDO:0011980 "UMLS:C1842446 OMIM:608173" PATO:0000140 "A spatial quality inhering in a bearer by virtue of the bearer's spatial location relative to other objects in the vicinity." MONDO:0008024 "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene." "UMLS:C1834703 OMIM:158580 DOID:0111201 Orphanet:139589 MESH:C563562" HP:0003133 "An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract." "UMLS:C4025647" -MONDO:0019601 "Autosomal recessive form of axonal hereditary motor and sensory neuropathy." "ICD10:G60.0 Orphanet:91024 UMLS:CN206449" +MONDO:0019601 "Autosomal recessive form of axonal hereditary motor and sensory neuropathy." "ICD10CM:G60.0 Orphanet:91024 UMLS:CN206449" MONDO:0032594 "OMIM:618195" NCBITaxon:5587 "GC_ID:1" MONDO:0010782 "DOID:0111184 Orphanet:2598 UMLS:C4225415 OMIM:500011" @@ -42933,17 +42903,17 @@ CHEBI:25865 http://identifiers.org/hgnc/11854 CHEBI:35358 "An amide of a sulfonic acid RS(=O)2NR'2." MONDO:0003872 "A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts." "DOID:6405 UMLS:C1335175 NCIT:C7278" -MONDO:0016868 "Orphanet:261776 ICD10:Q93.5" +MONDO:0016868 "Orphanet:261776 ICD10CM:Q93.5" MONDO:0004066 "Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." "UMLS:C1334209 NCIT:C6118 DOID:6997" GO:0002764 "The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to the activation, perpetuation, or inhibition of an immune response." http://identifiers.org/hgnc/4367 -MONDO:0006544 "A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern." "ICD9:057.0 MESH:D016731 UMLS:C0085273 ICD10:B08.3 EFO:1000693 NCIT:C84695 DOID:8743 SCTID:34730008" +MONDO:0006544 "A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern." "ICD9:057.0 MESH:D016731 UMLS:C0085273 EFO:1000693 NCIT:C84695 DOID:8743 SCTID:34730008" MONDO:0011983 "UMLS:C1842443 OMIM:608176" MONDO:0020078 "OBSOLETE. A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001)" "GARD:0012758 NCIT:C7175 OMIM:601626 ONCOTREE:AMLRGA Orphanet:98277" MONDO:0009527 "A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders." "NCIT:C126558 UMLS:C1855498 DOID:0111422 GARD:0010244 Orphanet:535453 OMIM:246650 MESH:C535904" CHEBI:33284 "A nutrient is a food component that an organism uses to survive and grow." MONDO:0032597 "OMIM:618198" -MONDO:0014132 "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene." "Orphanet:289573 UMLS:C3809165 Orphanet:363424 DOID:0080135 ICD10:G31.8 OMIM:615330" +MONDO:0014132 "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene." "Orphanet:289573 UMLS:C3809165 ICD10CM:G31.8 Orphanet:363424 DOID:0080135 OMIM:615330" MONDO:0004756 "A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "SCTID:126670003 NCIT:C4413 DOID:9310 UMLS:C0345630" UBERON:0011919 PATO:0000970 "A structural quality inhering in a bearer by virtue of the bearer's disposition to being permeated or pervaded by a gas or liquid (as by osmosis or diffusion)." @@ -42952,34 +42922,34 @@ http://identifiers.org/hgnc/3169 MONDO:0002604 "A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels." "DOID:3316 NCIT:C6528 UMLS:C1335392" MONDO:0003182 "Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis." "ICD9:335.9 ICD9:335 DOID:4873" MONDO:0001758 "A malignant soft tissue neoplasm that arises from the paranasal sinus." "DOID:1362 UMLS:C1335342 NCIT:C6849" -MONDO:0016867 "Orphanet:261771 ICD10:Q93.5" +MONDO:0016867 "Orphanet:261771 ICD10CM:Q93.5" GO:0034097 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus." -MONDO:0002613 "A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior." "ICD9:301.5 MESH:D006677 ICD9:301.59 SCTID:55341008 NCIT:C92634 ICD9:301.50 HP:0012077 ICD10:F60.4 DOID:334" +MONDO:0002613 "A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior." "ICD9:301.5 ICD10CM:F60.4 MESH:D006677 ICD9:301.59 SCTID:55341008 NCIT:C92634 ICD9:301.50 HP:0012077 DOID:334" GO:0046997 "Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces a flavin." UBERON:0004848 -MONDO:0002325 "Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)" "UMLS:C0040436 MESH:D014077 ICD9:521.3 ICD9:521.35 SCTID:82212003 ICD10:K03.2 ICD9:521.30 DOID:2498 ICD9:521.34" +MONDO:0002325 "Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)" "UMLS:C0040436 MESH:D014077 ICD9:521.3 ICD9:521.35 SCTID:82212003 ICD9:521.30 DOID:2498 ICD9:521.34" MONDO:0011982 "OMIM:608175" CL:1001580 "Glial cell of hippocampus." "CALOHA:TS-1257" -MONDO:0018312 "A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated." "ICD10:B39.4 DOID:1731 ICD10:B39.1 MedDRA:10021808 Orphanet:390 ICD10:B39.2 ICD9:115.99 ICD10:B39.5 ICD9:115.90 ICD10:B39 ICD10:B39.3 ICD10:B39.0 SCTID:12962009 MedDRA:10020141 NCIT:C77201 ICD9:115 EFO:0007310 ICD10:B39.9 MESH:D006660 UMLS:C0019655 ICD9:115.9" -MONDO:0004976 "Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord." "Orphanet:803 NIFSTD:birnlex_12566 DOID:332 EFO:0000253 ICD9:335.20 ICD10:G12.2 ICD10:G12.21 MESH:D000690 SCTID:86044005 NCIT:C34373 UMLS:C0002736 MedDRA:10002026 GARD:0005786 KEGG:05014" -MONDO:0016285 "A papillary carcinoma that involves the uterine cervix." "Orphanet:213817 ICD10:C53.1 ICD10:C53.8 UMLS:CN201075 ICD10:C53.0" +MONDO:0018312 "A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated." "DOID:1731 Orphanet:390 MedDRA:10021808 ICD9:115.99 ICD9:115.90 SCTID:12962009 ICD10CM:B39.9 ICD10CM:B39.5 MedDRA:10020141 ICD10CM:B39.2 NCIT:C77201 ICD9:115 ICD10CM:B39.0 EFO:0007310 ICD10CM:B39 ICD10CM:B39.3 MESH:D006660 ICD10CM:B39.4 UMLS:C0019655 ICD10CM:B39.1 ICD9:115.9" +MONDO:0004976 "Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord." "Orphanet:803 NIFSTD:birnlex_12566 ICD10CM:G12.2 DOID:332 EFO:0000253 ICD9:335.20 ICD10CM:G12.21 MESH:D000690 SCTID:86044005 NCIT:C34373 UMLS:C0002736 MedDRA:10002026 GARD:0005786 KEGG:05014" +MONDO:0016285 "A papillary carcinoma that involves the uterine cervix." "Orphanet:213817 ICD10CM:C53.0 ICD10CM:C53.8 ICD10CM:C53.1 UMLS:CN201075" GO:0031669 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients." MONDO:0032596 "OMIM:618197" -MONDO:0017800 "Orphanet:314459 ICD10:D27 UMLS:CN203759" +MONDO:0017800 "Orphanet:314459 ICD10CM:D27 UMLS:CN203759" MONDO:0015669 "Orphanet:167762" MONDO:0012082 "UMLS:C1837646 OMIM:608638" UBERON:0003649 -MONDO:0012880 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene." "UMLS:C3552553 ICD10:E23.0 MESH:C567220 OMIM:612370 GARD:0010773 DOID:0090084" +MONDO:0012880 "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene." "UMLS:C3552553 MESH:C567220 OMIM:612370 GARD:0010773 DOID:0090084" MONDO:0010784 "OMIM:515000" -MONDO:0010653 "Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." "ICD10:Q87.5 Orphanet:3242 MESH:C537761 OMIM:309500 GARD:0009509 SCTID:699669001 UMLS:C0796135 ICD9:759.89 DOID:0060179" -MONDO:0009813 "Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine." "SCTID:240151005 MESH:C535456 UMLS:C0410422 Orphanet:324964 OMIM:259680 DOID:0060645 NCIT:C119042 ICD10:M86.3 GARD:0006108 HP:0002754" +MONDO:0010653 "Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." "Orphanet:3242 MESH:C537761 OMIM:309500 ICD10CM:Q87.5 GARD:0009509 SCTID:699669001 UMLS:C0796135 ICD9:759.89 DOID:0060179" +MONDO:0009813 "Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine." "SCTID:240151005 MESH:C535456 UMLS:C0410422 Orphanet:324964 OMIM:259680 DOID:0060645 NCIT:C119042 GARD:0006108 HP:0002754" GO:0004553 "Catalysis of the hydrolysis of any O-glycosyl bond." GO:0016627 "Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor." MONDO:0020776 "Infections with bacteria of the family CHLAMYDIACEAE." "MESH:D002694 UMLS:C0008153 EFO:1001288" UBERON:0003643 MONDO:0024485 "A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003" "NCIT:C27879" MONDO:0011110 "This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children." "MESH:C563290 UMLS:C1832111 GARD:0002025 Orphanet:1804 OMIM:601561" -MONDO:0010989 "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used." "OMIM:601076 GARD:0005513 ICD10:Q87.8 Orphanet:2578 Orphanet:3109 SCTID:717705004" +MONDO:0010989 "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used." "OMIM:601076 GARD:0005513 Orphanet:2578 Orphanet:3109 ICD10CM:Q87.8 SCTID:717705004" UBERON:0002445 http://identifiers.org/hgnc/6764 UBERON:8410042 @@ -42990,22 +42960,22 @@ UBERON:0001247 MONDO:0006843 "A hole in the macula of the retina." "NCIT:C34795 SCTID:232006002 UMLS:C0024441 EFO:1001028 DOID:7633" CHR:9606-chr1p MONDO:0032591 "OMIM:618188" -MONDO:0008838 "This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit." "Orphanet:1188 SCTID:720517001 MESH:C535295 OMIM:208850 GARD:0004644 ICD10:G11.1" +MONDO:0008838 "This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit." "Orphanet:1188 SCTID:720517001 MESH:C535295 OMIM:208850 GARD:0004644 ICD10CM:G11.1" GO:0120033 "Any process that stops, prevents or reduces the frequency, rate or extent of plasma membrane bounded cell projection assembly." http://identifiers.org/hgnc/28984 MONDO:0021200 "OBSOLETE. Any of the forms of disease that have a rare incidence." "NCIT:C4873 MESH:D035583" -MONDO:0001038 "UMLS:C0151844 SCTID:46606001 DOID:10445 ICD10:H16.07 ICD9:370.06" +MONDO:0001038 "UMLS:C0151844 SCTID:46606001 DOID:10445 ICD9:370.06" MONDO:0022755 "MESH:C536581 UMLS:CN036727 GARD:0003726" -MONDO:0009366 "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" "EFO:1001065 DOID:1572 OMIM:236690 Orphanet:314928 ICD9:331.5 SCTID:30753002 UMLS:C0020258 ICD10:G91.2 MESH:D006850 MedDRA:10029773" -MONDO:0002049 "A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood." "OMIM:612004 ICD10:D69.6 OMIM:300367 Orphanet:852 MESH:D013921 NCIT:C3408 SCTID:302215000 OMIM:313900 UMLS:C0040034 OMIM:273900 OMIM:188000 ICD9:287.5 UMLS:CN130080 DOID:1588" +MONDO:0009366 "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" "EFO:1001065 DOID:1572 OMIM:236690 Orphanet:314928 ICD9:331.5 SCTID:30753002 UMLS:C0020258 MESH:D006850 MedDRA:10029773" +MONDO:0002049 "A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood." "OMIM:612004 OMIM:300367 Orphanet:852 MESH:D013921 NCIT:C3408 SCTID:302215000 OMIM:313900 UMLS:C0040034 OMIM:273900 OMIM:188000 ICD9:287.5 UMLS:CN130080 DOID:1588" GO:0007268 "The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse." NCBITaxon:480117 "GC_ID:1" -MONDO:0014218 "OMIM:615508 UMLS:C3809719 Orphanet:369992 ICD10:Q82.8" -MONDO:0007202 "This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia." "GARD:0000912 ICD10:Q15.8 MESH:C536236 SCTID:717915004 UMLS:C1862259 Orphanet:1259 OMIM:110150" +MONDO:0014218 "OMIM:615508 UMLS:C3809719 Orphanet:369992 ICD10CM:Q82.8" +MONDO:0007202 "This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia." "GARD:0000912 MESH:C536236 SCTID:717915004 UMLS:C1862259 Orphanet:1259 ICD10CM:Q15.8 OMIM:110150" MONDO:0100003 "An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema." "OMIM:300909" -MONDO:0019324 "Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed." "GARD:0007354 HGNC:3050 MedDRA:10057069 SCTID:35154004 ICD10:L10.2 EFO:0008601 UMLS:C0263313 Orphanet:79481" -MONDO:0021464 "A benign neoplasm that involves the caecum." "ICD10:D12.0 UMLS:C0496859 NCIT:C4772 SCTID:92040001" -MONDO:0005559 "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." "UMLS:C1285162 SCTID:362975008 DOID:1289 EFO:0005772 MESH:D019636 ICD10:G31.9 NCIT:C4802 SCTID:80690008 NCIT:C27090 ICD9:349.89" +MONDO:0019324 "Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed." "GARD:0007354 ICD10CM:L10.2 HGNC:3050 MedDRA:10057069 SCTID:35154004 EFO:0008601 UMLS:C0263313 Orphanet:79481" +MONDO:0021464 "A benign neoplasm that involves the caecum." "UMLS:C0496859 NCIT:C4772 SCTID:92040001 ICD10CM:D12.0" +MONDO:0005559 "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." "UMLS:C1285162 SCTID:362975008 DOID:1289 EFO:0005772 MESH:D019636 ICD10CM:G30-G32 NCIT:C4802 SCTID:80690008 NCIT:C27090 ICD9:349.89" HP:0010514 "Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma." "UMLS:C0020506 MSH:D006964 SNOMEDCT_US:10649000" MONDO:0003646 "A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "UMLS:C1335686 NCIT:C5698 DOID:5777 Orphanet:100081" UBERON:8410041 @@ -43016,7 +42986,7 @@ UBERON:0019319 MONDO:0032590 "OMIM:618187 DOID:0080500" MONDO:0003438 "A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma." "NCIT:C9137 ONCOTREE:CSCLC ICDO:8045/3 DOID:5421 UMLS:C1333125" MONDO:0013334 "Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported." "DOID:0060647 UMLS:C3150891 Orphanet:465824 OMIM:613630" -MONDO:0001037 "DOID:10444 SCTID:111520007 ICD9:370.02 ICD10:H16.02 UMLS:C0155068" +MONDO:0001037 "DOID:10444 SCTID:111520007 ICD9:370.02 UMLS:C0155068" CL:0000763 "A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage." "CALOHA:TS-0647 BTO:0001441" GO:2000830 "Any process that activates or increases the frequency, rate or extent of parathyroid hormone secretion." NCBITaxon:480118 "GC_ID:1" @@ -43024,34 +42994,34 @@ MONDO:0014219 "GARD:0012404 Orphanet:869 UMLS:C3809738 OMIM:615510" UBERON:0003645 http://identifiers.org/hgnc/6762 CHEBI:36342 "A particle smaller than an atom." -MONDO:0016662 "A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication." "Orphanet:251307 SCTID:766704005 ICD10:I09.2" +MONDO:0016662 "A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication." "Orphanet:251307 SCTID:766704005 ICD10CM:I09.2" HP:0000932 "An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum." "UMLS:C3280768" -MONDO:0012395 "Any cataract in which the cause of the disease is a mutation in the FYCO1 gene." "GARD:0009892 OMIM:610019 Orphanet:91492 DOID:0110238 MESH:C535337 Orphanet:98991 ICD10:Q12.0" +MONDO:0012395 "Any cataract in which the cause of the disease is a mutation in the FYCO1 gene." "GARD:0009892 OMIM:610019 Orphanet:91492 DOID:0110238 MESH:C535337 Orphanet:98991" CL:0000100 "An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes or inhibits movement." "WBbt:0005409 FMA:83617 BTO:0000312" NCBITaxon:1511900 "GC_ID:1" MONDO:0021556 GO:0099081 "A polymeric supramolecular structure." MONDO:0001261 "A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)" "SCTID:28189009 ICD9:426.12 DOID:11312 UMLS:C0155700 NCIT:C62018" -MONDO:0004899 "SCTID:14785004 UMLS:C0339611 DOID:9843 ICD9:378.34 ICD10:H50.42" +MONDO:0004899 "SCTID:14785004 UMLS:C0339611 DOID:9843 ICD10CM:H50.42 ICD9:378.34" MONDO:0044309 "Orphanet:124 UMLS:C4479424 OMIM:617408" MONDO:0007393 "MESH:C565147 OMIM:122850 UMLS:C1852512 Orphanet:1339" PCO:0000001 "A collection of organisms, all of the same species, that live in the same place."@en -MONDO:0015050 "Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported." "SCTID:721161005 ICD10:Q39.8 Orphanet:100047" +MONDO:0015050 "Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported." "ICD10CM:Q39.8 SCTID:721161005 Orphanet:100047" GO:0008152 "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation." -MONDO:0012996 "L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy." "ICD9:270.8 GARD:0010323 UMLS:C2675179 DOID:0050712 SCTID:702440000 Orphanet:35704 OMIM:612718 MESH:C567192 ICD10:E72.8" +MONDO:0012996 "L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy." "ICD10CM:E72.8 ICD9:270.8 GARD:0010323 UMLS:C2675179 DOID:0050712 SCTID:702440000 Orphanet:35704 OMIM:612718 MESH:C567192" GO:0031335 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids." UBERON:0003644 -MONDO:0015269 "Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness." "Orphanet:1314 ICD10:G93.8 GARD:0005070 UMLS:C4304914 SCTID:719164000" +MONDO:0015269 "Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness." "Orphanet:1314 GARD:0005070 UMLS:C4304914 SCTID:719164000 ICD10CM:G93.8" MONDO:0003004 "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." "MESH:D057135 UMLS:C0024437 MESH:D008268 SCTID:422338006 NCIT:C123330 DOID:4448" MONDO:0001386 "Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.'" "MESH:D012640 NCIT:C3980 SCTID:39194005 DOID:11832 UMLS:C0270824" GO:1903796 "Any process that stops, prevents or reduces the frequency, rate or extent of inorganic anion transmembrane transport." UBERON:0002446 -MONDO:0001484 "A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect." "SCTID:31658008 ICD9:295.32 DOID:1229 NCIT:C35006 ICD9:295.30 ICD9:295.3 MESH:D012563 ICD9:295.31 ICD10:F20.0" +MONDO:0001484 "A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect." "SCTID:31658008 ICD9:295.32 DOID:1229 ICD10CM:F20.0 NCIT:C35006 ICD9:295.30 ICD9:295.3 MESH:D012563 ICD9:295.31" MONDO:0100320 "A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection." GO:0031339 "Any process that stops, prevents, or reduces the frequency, rate or extent of vesicle fusion." http://identifiers.org/hgnc/7960 -MONDO:0018866 "Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis." "OMIM:612952 Orphanet:51 ICD10:G31.8 OMIM:615846 OMIM:610181 OMIM:615010 GARD:0000575 OMIM:610329 SCTID:230312006 ICD9:333.0 OMIM:610333 OMIM:225750 DOID:0050629 MESH:C535607 OMIM:114100 OMIMPS:225750" -MONDO:0006865 "A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins." "GARD:0005736 NCIT:C34637 MESH:D005892 EFO:1001058 ICD10:A69.1 SCTID:186963008 ICD9:101 UMLS:C0017575 DOID:13924" +MONDO:0018866 "Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis." "OMIM:612952 Orphanet:51 OMIM:615846 OMIM:610181 OMIM:615010 GARD:0000575 OMIM:610329 SCTID:230312006 ICD10CM:G31.8 ICD9:333.0 OMIM:610333 OMIM:225750 DOID:0050629 MESH:C535607 OMIM:114100 OMIMPS:225750" +MONDO:0006865 "A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins." "GARD:0005736 NCIT:C34637 MESH:D005892 EFO:1001058 SCTID:186963008 ICD9:101 UMLS:C0017575 DOID:13924" CL:0002328 "An epithelial cell of the bronchus." "BTO:0002922" MONDO:0004898 "SCTID:59753003 UMLS:C0154896 ICD9:363.52 DOID:9842" UBERON:0001248 @@ -43059,7 +43029,7 @@ MONDO:0007394 CHR:9606-chr1q GO:0060785 "Any process that modulates the occurrence or rate of cell death by apoptosis that results in the maintenance of the steady-state number of cells within a tissue." MONDO:0032592 "OMIM:618189" -MONDO:0001035 "SCTID:6395007 ICD9:370.04 UMLS:C0155070 ICD10:H16.03 DOID:10442" +MONDO:0001035 "SCTID:6395007 ICD9:370.04 UMLS:C0155070 DOID:10442" MONDO:0009436 "Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic." "GARD:0002934 MESH:C537158 Orphanet:2113 OMIM:241800 ICD9:759.6 SCTID:237714006 NCIT:C4385" UBERON:0018117 CL:0002484 "A melanocyte that produces pigment in the epithelium." @@ -43073,28 +43043,28 @@ CL:2000069 "Any fibroblast that is part of a gallbladder." NCBITaxon:481310 "GC_ID:1" MONDO:0009790 "MESH:C563002 ICD9:333.90 SCTID:77553008 UMLS:C0520711 OMIM:258700" NCBITaxon:43987 "GC_ID:1" -MONDO:0005800 "An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess." "SCTID:397513003 UMLS:C0019917 ICD10:H00.01 NCIT:C118722 MESH:D006726 EFO:0007315 SCTID:1489008 DOID:9909" -MONDO:0009268 "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." "Orphanet:355 MESH:C565553 GARD:0012504 Orphanet:2072 OMIM:231005 UMLS:C2931585 GARD:0002445 UMLS:C1856476 ICD10:E75.2" +MONDO:0005800 "An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess." "SCTID:397513003 UMLS:C0019917 NCIT:C118722 MESH:D006726 EFO:0007315 SCTID:1489008 DOID:9909" +MONDO:0009268 "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." "Orphanet:355 MESH:C565553 GARD:0012504 Orphanet:2072 OMIM:231005 UMLS:C2931585 GARD:0002445 UMLS:C1856476 ICD10CM:E75.2" UBERON:0001243 MONDO:0003697 "DOID:5907 UMLS:C1334984 NCIT:C27791" http://identifiers.org/hgnc/28722 MONDO:0044305 "DOID:0111650 OMIM:617392 UMLS:C4479322" -MONDO:0017440 "Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist." "Orphanet:294973 ICD10:Q71.8" +MONDO:0017440 "Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist." "ICD10CM:Q71.8 Orphanet:294973" CHEBI:131530 "A pyridinium ion obtained by protonation of the ring nitrogen of pyridoxal." UBERON:0018116 MONDO:0006476 "A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." "UMLS:C0279653 NCIT:C9167 EFO:1000604" -MONDO:0100471 "Abnormally low level of 25-hydroxyvitamin D in the blood." "NCIT:C114830 ICD10:E55 DOID:10574 SNOMEDCT:34713006 EFO:0003762 UMLS:C0042870 ICD9:268 MeSH:D014808 HP:0100512" +MONDO:0100471 "Abnormally low level of 25-hydroxyvitamin D in the blood." "SCTID:34713006 NCIT:C114830 DOID:10574 EFO:0003762 UMLS:C0042870 ICD10CM:E55 ICD9:268 MESH:D014808 HP:0100512" UBERON:0000047 MONDO:0008591 "MESH:C536406 OMIM:190310 UMLS:C1860860 GARD:0003948 Orphanet:3350" HP:0003074 "An increased concentration of glucose in the blood." "UMLS:C0020456 MSH:D006943 SNOMEDCT_US:237598005 SNOMEDCT_US:80394007" CL:0002222 "A cell comprising the transparent, biconvex body separating the posterior chamber and vitreous body, and constituting part of the refracting mechanism of the mammalian eye." "FMA:70950" -MONDO:0015379 "Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia." "Orphanet:141046 SCTID:763129001 ICD10:Q18.8" +MONDO:0015379 "Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia." "Orphanet:141046 SCTID:763129001 ICD10CM:Q18.8" MONDO:0043108 "Orphanet:1575 GARD:0003004" MONDO:0024246 "A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma." "UMLS:C0473578 UMLS:C1266060 SCTID:403936002 HP:0031018 NCIT:C43356 ICDO:8392/0" MONDO:0002121 "Neuritis of a single nerve." "DOID:1802 SCTID:32595002 UMLS:C0235880 ICD9:355.9" -MONDO:0001034 "ICD9:370.01 DOID:10441 SCTID:47398006 UMLS:C0155067 ICD10:H16.04" -MONDO:0013858 "Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation." "ICD10:Q04.8 UMLS:C3541340 OMIM:614688 GARD:0010919 Orphanet:269229" -MONDO:0010139 "Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." "UMLS:C0271789 GARD:0010129 OMIM:275100 ICD10:E03.1 UMLS:C4082174 DOID:0070123 Orphanet:90674" +MONDO:0001034 "ICD9:370.01 DOID:10441 SCTID:47398006 UMLS:C0155067" +MONDO:0013858 "Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation." "ICD10CM:Q04.8 UMLS:C3541340 OMIM:614688 GARD:0010919 Orphanet:269229" +MONDO:0010139 "Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." "UMLS:C0271789 GARD:0010129 OMIM:275100 UMLS:C4082174 ICD10CM:E03.1 DOID:0070123 Orphanet:90674" GO:0030849 "Any chromosome other than a sex chromosome." UBERON:8410045 MONDO:0002499 @@ -43102,59 +43072,59 @@ http://identifiers.org/hgnc/343 MONDO:0013702 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene." "UMLS:C3280538 Orphanet:88616 OMIM:614340" UBERON:0019315 MONDO:0022071 "Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown." "UMLS:C0406419 GARD:0001089 SCTID:238700008" -MONDO:0010047 "Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients." "OMIM:270800 ICD10:G11.4 UMLS:C2931357 SCTID:763373005 UMLS:C1849115 DOID:0110810 Orphanet:100986 GARD:0004926" +MONDO:0010047 "Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients." "OMIM:270800 UMLS:C2931357 SCTID:763373005 ICD10CM:G11.4 UMLS:C1849115 DOID:0110810 Orphanet:100986 GARD:0004926" HP:0001197 "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities." "UMLS:C4025797" NCBITaxon:716546 "GC_ID:1" -MONDO:0020359 "ICD10:Q11.2 DOID:0111720 Orphanet:98948" -MONDO:0016577 "Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen." "SCTID:717156002 UMLS:CN201730 UMLS:C4274029 Orphanet:244283 ICD10:Q44.2" +MONDO:0020359 "ICD10CM:Q11.2 DOID:0111720 Orphanet:98948" +MONDO:0016577 "Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen." "SCTID:717156002 UMLS:CN201730 UMLS:C4274029 ICD10CM:Q44.2 Orphanet:244283" UBERON:0001242 GO:0047291 "Catalysis of the reaction: cytolipin-H + CMP-N-acetylneuraminate = alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide + CMP. Alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide is also known as GM3." UBERON:0018119 -MONDO:0020440 "Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated." "ICD10:Q26.1 Orphanet:99109" -MONDO:0013169 "5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes)." "OMIM:613174 UMLS:C2750805 ICD10:Q92.3 DOID:0060460 MESH:C567717 Orphanet:329802" -MONDO:0017808 "Orphanet:314621 UMLS:CN203774 ICD10:Q89.2" -MONDO:0001033 "ICD10:H16.06 UMLS:C0155071 SCTID:397977001 DOID:10440 ICD9:370.05" +MONDO:0020440 "Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated." "Orphanet:99109 ICD10CM:Q26.1" +MONDO:0013169 "5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes)." "OMIM:613174 UMLS:C2750805 DOID:0060460 MESH:C567717 Orphanet:329802" +MONDO:0017808 "Orphanet:314621 UMLS:CN203774 ICD10CM:Q89.2" +MONDO:0001033 "UMLS:C0155071 SCTID:397977001 DOID:10440 ICD9:370.05" UBERON:0002443 MONDO:0015221 "A respiratory or mediastinal malformation that is not part of a larger syndrome." "Orphanet:108993" UBERON:8410044 -MONDO:0018143 "Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." "ICD10:E74.4 Orphanet:353320 UMLS:CN204540 OMIM:266150" +MONDO:0018143 "Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." "ICD10CM:E74.4 Orphanet:353320 UMLS:CN204540 OMIM:266150" MONDO:0054868 "Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine." "SCTID:206523001 NCIT:C98979" MONDO:0015392 "Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported." "ICD9:748.1 SCTID:5645008 Orphanet:141112 UMLS:C0266490" MONDO:0043106 "SCTID:54336006 GARD:0002967" GO:0045111 "Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell." GO:0045275 "A protein complex that transfers electrons from ubiquinol to cytochrome c and translocates two protons across a membrane. The complex contains a core structure of three catalytic subunits: cytochrome b, the Rieske iron sulfur protein (ISP), and cytochrome c1, which are arranged in an integral membrane-bound dimeric complex; additional subunits are present, and vary among different species." GO:1904783 "Any process that activates or increases the frequency, rate or extent of NMDA glutamate receptor activity." -MONDO:0004895 "DOID:9839 SCTID:419494007 ICD9:378.35 UMLS:C0155336 ICD10:H50.43" -MONDO:0004922 "A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition." "DOID:9923 ICD10:F82 NCIT:C92561 MESH:D019957 UMLS:C0520947 SCTID:27544004 ICD9:315.4" +MONDO:0004895 "DOID:9839 SCTID:419494007 ICD9:378.35 UMLS:C0155336" +MONDO:0004922 "A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition." "DOID:9923 NCIT:C92561 MESH:D019957 UMLS:C0520947 SCTID:27544004 ICD9:315.4" UBERON:0001245 NCBITaxon:716545 "GC_ID:1" ENVO:02500005 "A process which diminishes the functioning of an ecosystem located on land." UBERON:0003640 -MONDO:0004690 "A cancer involving a tonsillar fossa." "SCTID:363394001 DOID:8969 ICD9:146.1 UMLS:C0153384 ICD10:C09.0" +MONDO:0004690 "A cancer involving a tonsillar fossa." "SCTID:363394001 DOID:8969 ICD10CM:C09.0 ICD9:146.1 UMLS:C0153384" CHEBI:35693 http://identifiers.org/hgnc/28986 MONDO:0005189 "Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta." "ICD9:433.10 SCTID:233964008 Wikipedia:Carotid_artery_stenosis EFO:0002615" UBERON:0018118 CL:0000826 "A progenitor cell of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but not yet fully committed to the B cell lineage until the expression of PAX5 occurs." "BTO:0003104" MONDO:0044303 "OMIM:617364 UMLS:C4479250" -MONDO:0009522 "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961." "UMLS:C1855504 SCTID:239032007 Orphanet:1816 MESH:C565440 OMIM:246500 UMLS:C0406729 ICD10:Q82.4" +MONDO:0009522 "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961." "UMLS:C1855504 SCTID:239032007 Orphanet:1816 ICD10CM:Q82.4 MESH:C565440 OMIM:246500 UMLS:C0406729" MONDO:0043479 "An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis." "MESH:D000257 SCTID:25225006 NCIT:C115149 UMLS:C0001486" UBERON:0000045 -MONDO:0001032 "Orphanet:519408 SCTID:22440001 DOID:10439 ICD10:H16.05 ICD9:370.07 UMLS:C0155072" -MONDO:0017809 "ICD10:E75.4 UMLS:CN203776 Orphanet:314632 OMIM:606693" +MONDO:0001032 "Orphanet:519408 SCTID:22440001 DOID:10439 ICD9:370.07 UMLS:C0155072" +MONDO:0017809 "UMLS:CN203776 Orphanet:314632 OMIM:606693 ICD10CM:E75.4" GO:1901343 "Any process that stops, prevents or reduces the frequency, rate or extent of vasculature development." MONDO:0003950 "A carcinoma that arises from epithelial cells of the nipple" "DOID:6629 NCIT:C28432 UMLS:C1334966" MONDO:0019106 GO:0032870 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus." UBERON:8410043 HP:0030680 "Any structural anomaly of the heart and great vessels." "UMLS:C4049796" -MONDO:0019855 "Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "OMIM:225250 Orphanet:95713 ICD10:E03.1 OMIM:218700" +MONDO:0019855 "Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "OMIM:225250 Orphanet:95713 ICD10CM:E03.1 OMIM:218700" http://identifiers.org/hgnc/341 NCBITaxon:766 "GC_ID:11 PMID:8240958 PMID:11760958" GO:0007049 "The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division." -MONDO:0009235 "Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits." "Orphanet:363989 UMLS:C1856718 OMIM:228980 ICD10:H35.5 MESH:C565564 DOID:0111677" -MONDO:0004894 "UMLS:C0152209 SCTID:70486007 DOID:9838 ICD10:H50.41 ICD9:378.33" -MONDO:0011242 "Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene." "SCTID:717791000 UMLS:C1865270 DOID:0110145 Orphanet:112 Orphanet:89938 OMIM:602522 ICD10:E26.8" +MONDO:0009235 "Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits." "Orphanet:363989 UMLS:C1856718 OMIM:228980 MESH:C565564 DOID:0111677 ICD10CM:H35.5" +MONDO:0004894 "UMLS:C0152209 SCTID:70486007 DOID:9838 ICD9:378.33" +MONDO:0011242 "Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene." "SCTID:717791000 UMLS:C1865270 DOID:0110145 Orphanet:112 Orphanet:89938 OMIM:602522" GO:0007006 "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrial membrane, either of the lipid bilayer surrounding a mitochondrion." MONDO:0020495 "PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated." "OMIM:617507 Orphanet:99807 OMIM:260565" MONDO:0007390 "SCTID:726543008 GARD:0012721 UMLS:CN078029 OMIM:122700 UMLS:C0750384 GARD:0012639" @@ -43164,9 +43134,9 @@ MONDO:0021678 "Infections caused by bacteria that show up as pink (negative) whe UBERON:0000042 MONDO:0007133 "OMIM:106990 Orphanet:2355 UMLS:C1862842 GARD:0000711 MESH:C536379" MONDO:0006474 "A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries." "GARD:0007794 DOID:2671 MESH:D002295 UMLS:C0007138 EFO:1000601 ICDO:8120/3 NCIT:C2930" -MONDO:0004779 "Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord." "UMLS:C0014534 SCTID:31070006 ICD10:N45.1 DOID:9402 MESH:D004823 NCIT:C12328 HP:0000031" +MONDO:0004779 "Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord." "UMLS:C0014534 SCTID:31070006 ICD10CM:N45.1 DOID:9402 MESH:D004823 NCIT:C12328 HP:0000031" MONDO:0044302 "UMLS:C4479246 OMIM:617360" -MONDO:0020353 "Orphanet:98941 ICD10:Q13.4" +MONDO:0020353 "Orphanet:98941 ICD10CM:Q13.4" NCBITaxon:10298 "GC_ID:1" MONDO:0016870 "Orphanet:261786" ECTO:4000031 "A exposure event involving the interaction of an exposure receptor to increased amount of temperature of water." @@ -43175,34 +43145,34 @@ GO:1905277 "Any process that stops, prevents or reduces the frequency, rate or e UBERON:0018113 HP:0000152 "An abnormality of head and neck." "UMLS:C4021817" MONDO:0007962 "A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances." "SCTID:48449000 NCIT:C48900 MESH:C562546 OMIM:155500" -MONDO:0009964 "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13." "Orphanet:140969 ICD9:759.89 DOID:0110097 OMIM:266920 GARD:0008600 OMIM:615630 ICD10:Q87.5 SCTID:254092004" +MONDO:0009964 "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13." "Orphanet:140969 ICD9:759.89 DOID:0110097 OMIM:266920 GARD:0008600 OMIM:615630 ICD10CM:Q87.5 SCTID:254092004" http://identifiers.org/hgnc/25382 -MONDO:0017210 "An infectious disease involving a pathogenic inflammatory response in the anterior uvea." "UMLS:C0154911 ICD9:364.03 ICD10:H20.8 Orphanet:279922 ICD10:H20.1 SCTID:193487008 ICD10:H20.0 ICD10:H20.2 DOID:9389 ICD10:H20.03 ICD10:H20.9" +MONDO:0017210 "An infectious disease involving a pathogenic inflammatory response in the anterior uvea." "UMLS:C0154911 ICD9:364.03 ICD10CM:H20.1 Orphanet:279922 ICD10CM:H20.0 SCTID:193487008 DOID:9389 ICD10CM:H20.2 ICD10CM:H20.9 ICD10CM:H20.8" NCBITaxon:314145 "PMID:12878460 GC_ID:1 PMID:11214318 PMID:11214319" UBERON:0019310 -MONDO:0019644 "Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." "Orphanet:93172 HP:0008718 ICD10:Q61.4" -MONDO:0011819 "Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." "ICD10:G11.2 GARD:0012365 MESH:C537198 OMIM:607346 Orphanet:98772 SCTID:719251009 DOID:0050970 MESH:C542540" +MONDO:0019644 "Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD." "Orphanet:93172 HP:0008718 ICD10CM:Q61.4" +MONDO:0011819 "Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." "GARD:0012365 MESH:C537198 OMIM:607346 Orphanet:98772 SCTID:719251009 DOID:0050970 MESH:C542540 ICD10CM:G11.2" http://identifiers.org/hgnc/7703 MONDO:0700119 "Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18." "GARD:0010865" GO:2000737 "Any process that stops, prevents or reduces the frequency, rate or extent of stem cell differentiation." -MONDO:0016748 "Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported." "DOID:5241 ICD10:D33.4 NCIT:C3801 MESH:D018325 Orphanet:252054 MedDRA:10018813 ICD10:D33.7 GARD:0008232 ONCOTREE:HMBL ICDO:9161/1 UMLS:C0206734" -MONDO:0013717 "Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene." "ICD10:Q77.2 OMIM:614376 UMLS:C3280598 Orphanet:474 DOID:0110089" +MONDO:0016748 "Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported." "ICD10CM:D33.7 DOID:5241 NCIT:C3801 MESH:D018325 Orphanet:252054 MedDRA:10018813 GARD:0008232 ONCOTREE:HMBL ICDO:9161/1 UMLS:C0206734 ICD10CM:D33.4" +MONDO:0013717 "Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene." "OMIM:614376 UMLS:C3280598 Orphanet:474 DOID:0110089" GO:0019203 "Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate." MONDO:0012079 "UMLS:C1837697 OMIM:608631" MONDO:0044301 "OMIM:617349" MONDO:0006233 "A teratoma that arises from the testis or ovary." "EFO:1000282 UMLS:C3273942 NCIT:C98291" CHEBI:23357 "An organic molecule or ion (usually a metal ion) that is required by an enzyme for its activity. It may be attached either loosely (coenzyme) or tightly (prosthetic group)." -MONDO:0010225 "Dent disease type 1 is a type of Dent disease with predominantly renal manifestations." "OMIM:300009 OMIM:308990 UMLS:C4305530 SCTID:717789008 OMIM:300554 Orphanet:1652 OMIM:310468 ICD10:N25.8 Orphanet:93622 UMLS:CN206679" +MONDO:0010225 "Dent disease type 1 is a type of Dent disease with predominantly renal manifestations." "OMIM:300009 OMIM:308990 UMLS:C4305530 SCTID:717789008 OMIM:300554 Orphanet:1652 ICD10CM:N25.8 OMIM:310468 Orphanet:93622 UMLS:CN206679" http://identifiers.org/hgnc/30064 -MONDO:0020371 "Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." "UMLS:C0271111 UMLS:CN207238 Orphanet:98981 ICD10:H21.2 ICD9:364.51 SCTID:25913001" +MONDO:0020371 "Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." "UMLS:C0271111 UMLS:CN207238 Orphanet:98981 ICD10CM:H21.2 ICD9:364.51 SCTID:25913001" ENVO:00002264 "A material which is not the desired output of a process and which is typically the input of a process which removes it from its producer (e.g. a disposal process)." MONDO:0013202 "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10." "Orphanet:897 UMLS:C2750452 DOID:0110955 OMIM:613266 MESH:C567679" -MONDO:0019072 "Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery." "MESH:D002780 OMIM:147480 Orphanet:69665 EFO:0009048 GARD:9804 Orphanet:172 OMIM:605479 Orphanet:65682 OMIM:615878 DOID:0070227 ICD10:O26.6 OMIM:601847 NCIT:C84400 SCTID:235888006 UMLS:C0008372 OMIM:602347 MESH:C535932 DOID:1852 OMIM:211600 OMIM:243300 OMIM:614972 GARD:0009804" +MONDO:0019072 "Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery." "MESH:D002780 OMIM:147480 Orphanet:69665 EFO:0009048 GARD:9804 Orphanet:172 ICD10CM:O26.6 OMIM:605479 Orphanet:65682 OMIM:615878 DOID:0070227 OMIM:601847 NCIT:C84400 SCTID:235888006 UMLS:C0008372 OMIM:602347 MESH:C535932 DOID:1852 OMIM:211600 OMIM:243300 OMIM:614972 GARD:0009804" UBERON:0018112 UBERON:0000043 -MONDO:0014476 "Orphanet:401953 UMLS:C4015108 DOID:0050996 OMIM:616055 ICD10:G11.8" -MONDO:0014210 "Orphanet:356996 UMLS:C3809672 ICD10:G93.8 OMIM:615493" -MONDO:0014438 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene." "DOID:0110132 MESH:C565919 ICD10:Q87.89 UMLS:C1859568 EFO:0009022 GARD:0010209 OMIM:615987" +MONDO:0014476 "Orphanet:401953 ICD10CM:G11.8 UMLS:C4015108 DOID:0050996 OMIM:616055" +MONDO:0014210 "Orphanet:356996 UMLS:C3809672 OMIM:615493 ICD10CM:G93.8" +MONDO:0014438 "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene." "DOID:0110132 MESH:C565919 UMLS:C1859568 EFO:0009022 GARD:0010209 OMIM:615987" MONDO:0005466 "A sleep disorder characterized by excessive sleepiness." "HP:0100786 EFO:0005246 NCIT:C78346 UMLS:C0917799 ICD9:780.54 SCTID:77692006" UBERON:0019311 MONDO:0008595 "OMIM:190345 UMLS:C1860849 MESH:C566034" @@ -43215,32 +43185,32 @@ http://identifiers.org/hgnc/14348 MONDO:0015982 "OBSOLETE. Rare genetic intellectual disability." "Orphanet:183757 UMLS:CN226821" GO:0002760 "Any process that activates or increases the frequency, rate, or extent of an antimicrobial humoral response." MONDO:0018502 "Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome." "Orphanet:423776" -MONDO:0010669 "Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers." "UMLS:C1839728 SCTID:715442006 Orphanet:2498 ICD10:Q70.0 MESH:C564100 OMIM:309630 GARD:0003559" -MONDO:0020355 "ICD10:Q12.2 Orphanet:98943 GARD:0001433" +MONDO:0010669 "Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers." "UMLS:C1839728 SCTID:715442006 Orphanet:2498 MESH:C564100 OMIM:309630 ICD10CM:Q70.0 GARD:0003559" +MONDO:0020355 "Orphanet:98943 GARD:0001433" NCBITaxon:715340 "GC_ID:1" MONDO:0007135 "DOID:0080084 GARD:0000710 OMIM:107000 Orphanet:79143 Orphanet:90390 UMLS:C1862840" UBERON:0018115 GO:0015698 "The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage." -MONDO:0011638 "Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits." "UMLS:C1853578 ICD10:G23.0 DOID:0110737 GARD:0010686 Orphanet:157846 SCTID:699299001 OMIM:606159 ICD9:333.0 MESH:C548080" -MONDO:0018465 "Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood." "ICD10:E16.1 Orphanet:411593 UMLS:C0854359 ICD9:279.49 DOID:0040100 SCTID:408539000 GARD:0010808" -MONDO:0008196 "Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." "ICD10:Q87.1 OMIM:168400 GARD:0004222 SCTID:722210007 MESH:C537172 Orphanet:2646 DOID:0111539" +MONDO:0011638 "Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits." "UMLS:C1853578 ICD10CM:G23.0 DOID:0110737 GARD:0010686 Orphanet:157846 SCTID:699299001 OMIM:606159 ICD9:333.0 MESH:C548080" +MONDO:0018465 "Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood." "Orphanet:411593 UMLS:C0854359 ICD9:279.49 ICD10CM:E16.1 DOID:0040100 SCTID:408539000 GARD:0010808" +MONDO:0008196 "Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs." "ICD10CM:Q87.1 OMIM:168400 GARD:0004222 SCTID:722210007 MESH:C537172 Orphanet:2646 DOID:0111539" PATO:0015008 "A quality inhering in a bearer by virtue of the extent to which the bearer is capable of being stretched or swollen." http://identifiers.org/hgnc/17944 NCBITaxon:314147 "PMID:15522813 PMID:12082125 GC_ID:1 PMID:11214319" -MONDO:0012489 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene." "Orphanet:91492 ICD10:Q12.0 OMIM:610425 DOID:0110271 UMLS:C3808012 Orphanet:98995" -MONDO:0019316 "Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin." "GARD:0013079 NCIT:C3433 ICD10:Q82.2 SCTID:78745000 DOID:12309 Orphanet:79457 ICD9:708.8 UMLS:C0042111 ICDO:9740/1 MedDRA:10046752 OMIM:154800" +MONDO:0012489 "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene." "Orphanet:91492 OMIM:610425 DOID:0110271 UMLS:C3808012 Orphanet:98995" +MONDO:0019316 "Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin." "GARD:0013079 NCIT:C3433 SCTID:78745000 ICD10CM:Q82.2 DOID:12309 Orphanet:79457 ICD9:708.8 UMLS:C0042111 ICDO:9740/1 MedDRA:10046752 OMIM:154800" GO:0055074 "Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell." MONDO:0003837 "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin." "SCTID:254959007 UMLS:C0346303 NCIT:C7915 UMLS:C2362538 DOID:6275 NCIT:C8011" NCBITaxon:1870884 "PMID:27902176 PMID:27370902 GC_ID:11" MONDO:0015670 http://identifiers.org/hgnc/7967 -MONDO:0018919 "McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafC)-au-lait skin spots, and precocious puberty (PP)." "NCIT:C48627 DOID:1858 UMLS:C0242292 MESH:D005357 SCTID:726029005 UMLS:C0016065 Orphanet:562 ICD10:Q78.1 OMIM:174800 GARD:0006995" +MONDO:0018919 "McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafC)-au-lait skin spots, and precocious puberty (PP)." "NCIT:C48627 DOID:1858 UMLS:C0242292 ICD10CM:Q78.1 MESH:D005357 SCTID:726029005 UMLS:C0016065 Orphanet:562 OMIM:174800 GARD:0006995" http://identifiers.org/hgnc/8066 ENVO:01001781 "A solid astronomical body part which is part of the landmass of that body." MONDO:0013013 "OMIM:612798 Orphanet:137888" GO:1901228 "Any positive regulation of transcription from RNA polymerase II promoter that is involved in heart development." MONDO:0007136 "OMIM:107100 Orphanet:557 MESH:C567938" -MONDO:0017931 "Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy." "UMLS:CN227223 Orphanet:324381 ICD10:G71.8" +MONDO:0017931 "Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy." "ICD10CM:G71.8 UMLS:CN227223 Orphanet:324381" GO:0006720 "The chemical reactions and pathways involving isoprenoid compounds, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues." GO:0016127 "The chemical reactions and pathways resulting in the breakdown of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule." UBERON:0018114 @@ -43249,14 +43219,14 @@ MONDO:0000811 "A congenital coronary vessel anomaly in which the left main coron MONDO:0008593 "Orphanet:411788 OMIM:190330" GO:0006446 "Any process that modulates the frequency, rate or extent of translational initiation." http://identifiers.org/hgnc/6769 -MONDO:0011871 "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" "Orphanet:99022 UMLS:C0268243 ICD10:E75.241 OMIM:607616 DOID:0070112 ICD10:E75.2 NCIT:C126866 Orphanet:77293 GARD:0010729 SCTID:39390005 MESH:D052537" +MONDO:0011871 "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" "Orphanet:99022 UMLS:C0268243 ICD10CM:E75.2 OMIM:607616 DOID:0070112 ICD10CM:E75.241 NCIT:C126866 Orphanet:77293 GARD:0010729 SCTID:39390005 MESH:D052537" CL:1001607 "Chondrocyte forming the hyaline cartilage found in joints." "CALOHA:TS-0056" CL:1000746 "KUPO:0001036" GO:0002890 "Any process that stops, prevents, or reduces the frequency, rate, or extent of an immunoglobulin mediated immune response." NCBITaxon:314146 "PMID:11214319 PMID:12082125 PMID:12878460 GC_ID:1 PMID:15522813" MONDO:0004474 "A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site." "DOID:8135 UMLS:C1333748 NCIT:C5734" http://identifiers.org/hgnc/8067 -MONDO:0007446 "A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body." "MESH:C562379 ICD9:709.8 ICD10:L82 UMLS:C0011645 NCIT:C2984 SCTID:254669003 OMIM:125600 Wikipedia:Dermatosis_papulosa_nigra EFO:1000686 DOID:4400" +MONDO:0007446 "A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body." "MESH:C562379 ICD9:709.8 ICD10CM:L82 UMLS:C0011645 NCIT:C2984 SCTID:254669003 OMIM:125600 Wikipedia:Dermatosis_papulosa_nigra EFO:1000686 DOID:4400" MONDO:0007902 "An instance of lichen planus that is caused by an inherited modification of the individual's genome." "MESH:C563624 OMIM:151620 UMLS:C1835402" MONDO:0009791 "OMIM:258800 GARD:0009476" GO:0016835 "Catalysis of the breakage of a carbon-oxygen bond." @@ -43264,28 +43234,28 @@ CL:2000068 "Any fibroblast that is part of a pericardium." MONDO:0005839 HP:0000598 "An abnormality of the ear." "UMLS:C0266589 SNOMEDCT_US:275259005" HP:0006685 "The presence of excessive connective tissue in the endocardium." "UMLS:C0553980 MSH:D004719 SNOMEDCT_US:398716006" -MONDO:0014213 "UMLS:C3809686 Orphanet:363611 ICD10:Q87.8 DOID:0070051 OMIM:615502" +MONDO:0014213 "UMLS:C3809686 Orphanet:363611 ICD10CM:Q87.8 DOID:0070051 OMIM:615502" MONDO:0014479 "UMLS:C4015128 Orphanet:79152 OMIM:616063" MONDO:0022752 "UMLS:C3502510 MESH:C566433" http://identifiers.org/hgnc/8064 MONDO:0012917 "MESH:C567288 OMIM:612514 UMLS:C2675874" MONDO:0003372 "An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells." "NCIT:C40318 EFO:1001975 UMLS:C2168304 DOID:5286" -MONDO:0010728 "SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive." "SCTID:734173003 Orphanet:3134 OMIM:312830 GARD:0000247 MESH:C536625 ICD10:Q82.8 UMLS:C1839321" +MONDO:0010728 "SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive." "SCTID:734173003 ICD10CM:Q82.8 Orphanet:3134 OMIM:312830 GARD:0000247 MESH:C536625 UMLS:C1839321" GO:2000845 "Any process that activates or increases the frequency, rate or extent of testosterone secretion." http://identifiers.org/hgnc/6502 GO:0030100 "Any process that modulates the frequency, rate or extent of endocytosis." MONDO:0014976 "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis." "Orphanet:478049 UMLS:C4310661 DOID:0111488 OMIM:617228" -MONDO:0009793 "Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." "SCTID:239030004 MESH:C557817 OMIM:258850 Orphanet:2752 DOID:0060373 GARD:0010518 ICD10:Q87.0" +MONDO:0009793 "Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit." "SCTID:239030004 MESH:C557817 OMIM:258850 Orphanet:2752 DOID:0060373 GARD:0010518 ICD10CM:Q87.0" HP:0002977 "Absence or underdevelopment of tissue in the central nervous system." "UMLS:C4025665" MONDO:0020257 "Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement." "GARD:0008403 Orphanet:98687" GO:0005615 "That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid." -MONDO:0011986 "Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis." "ICD10:K86.1 Orphanet:103918 OMIM:608189 UMLS:C1842402 UMLS:C4510860 SCTID:724540009 MESH:C564276" +MONDO:0011986 "Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis." "Orphanet:103918 OMIM:608189 ICD10CM:K86.1 UMLS:C1842402 SCTID:724540009 UMLS:C4510860 MESH:C564276" MONDO:0004156 "A mucinous cystadenocarcinoma that involves the pancreas." "DOID:7234 NCIT:C5713 UMLS:C1335308" GO:0003810 "Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links." NCBITaxon:11232 "GC_ID:1" HP:0001557 "An abnormality of fetal movement." "UMLS:C1849510" MONDO:0009531 "OMIM:247150" -MONDO:0015779 "45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." "ICD10:Q98.7 DOID:0080656 NCIT:C120199 Orphanet:1772" +MONDO:0015779 "45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." "ICD10CM:Q98.7 DOID:0080656 NCIT:C120199 Orphanet:1772" MONDO:0020350 MONDO:0003413 "A benign or malignant neoplasm arising from the hair follicle." "UMLS:C0859920 NCIT:C7367 DOID:5375" CHR:9606-chr3p25 @@ -43295,7 +43265,7 @@ PATO:0001397 "A cellular quality that arises by virtue of whether the bearer's d MONDO:0021392 "A polyp that involves the large intestine." "UMLS:C0949059 SCTID:399505005 NCIT:C5679" http://identifiers.org/hgnc/21686 GO:0001820 "The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells." -MONDO:0013082 "A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated." "GARD:0002695 MESH:C538119 Orphanet:2151 UMLS:C2751683 ICD10:Q43.1" +MONDO:0013082 "A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated." "ICD10CM:Q43.1 GARD:0002695 MESH:C538119 Orphanet:2151 UMLS:C2751683" CL:0000158 "Epithelial progenitor cell of the lung. Club cells are dome-shaped with short microvilli but no cilia. They function to protect the bronchiolar epithelium. Club cells also multiply and differentiate into ciliated cells to regenerate the bronchiolar epithelium." "BTO:0004811 FMA:14119" MONDO:0018061 "Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986." "GARD:0004369 MESH:C537402 UMLS:C2931485 Orphanet:3353" MONDO:0021553 "SCTID:16631009 ICD9:323.9 GARD:0007796 UMLS:C0026976" @@ -43312,24 +43282,24 @@ MONDO:0003436 CL:0000586 "The reproductive cell in multicellular organisms." "WBbt:0006796 VHOG:0001534 BTO:0000535" GO:2001022 "Any process that activates or increases the frequency, rate or extent of response to DNA damage stimulus." UBERON:0018111 -MONDO:0017296 "Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." "ICD10:E74.8 Orphanet:284414 OMIM:307030" -MONDO:0013297 "Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle." "OMIM:613530 UMLS:C3150786 DOID:0110303 GARD:0012532 ICD10:G71.0 Orphanet:238755" +MONDO:0017296 "Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." "ICD10CM:E74.8 Orphanet:284414 OMIM:307030" +MONDO:0013297 "Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle." "OMIM:613530 UMLS:C3150786 DOID:0110303 GARD:0012532 ICD10CM:G71.0 Orphanet:238755" UBERON:0010982 GO:0046173 "The chemical reactions and pathways resulting in the formation of a polyol, any alcohol containing three or more hydroxyl groups attached to saturated carbon atoms." MONDO:0042982 "A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML])." "UMLS:C3280030 NCIT:C126349 GARD:0013373" CHEBI:35186 "A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH2=C(CH3)CH=CH2]." -MONDO:0007048 "A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows." "SCTID:400085009 ICD9:757.39 NCIT:C27519 OMIM:101900 MedDRA:10069445 EFO:1000666 DOID:0050606 UMLS:C0265971 ICD10:Q82.8 Orphanet:79151" -MONDO:0009411 "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." "GARD:0005558 ICD10:E31.0 UMLS:C0085859 GARD:0008466 DOID:0050167 OMIM:240300 SCTID:11244009 NCIT:C129727 ICD9:258.8 Orphanet:3453" +MONDO:0007048 "A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows." "SCTID:400085009 ICD9:757.39 ICD10CM:Q82.8 NCIT:C27519 OMIM:101900 MedDRA:10069445 EFO:1000666 DOID:0050606 UMLS:C0265971 Orphanet:79151" +MONDO:0009411 "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." "GARD:0005558 ICD10CM:E31.0 UMLS:C0085859 GARD:0008466 DOID:0050167 OMIM:240300 SCTID:11244009 NCIT:C129727 ICD9:258.8 Orphanet:3453" MONDO:0006897 "Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." "MedDRA:10060985 MESH:D010484 DOID:4617 EFO:1001096 UMLS:C0031029 SCTID:81407003" -MONDO:0005906 "An abscess that develops in the space surrounding one or both palatine tonsils." "ICD9:475 ICD10:J36 SCTID:15033003 NCIT:C128322 UMLS:C0031157 EFO:0007429 MESH:D000039" +MONDO:0005906 "An abscess that develops in the space surrounding one or both palatine tonsils." "ICD9:475 SCTID:15033003 NCIT:C128322 UMLS:C0031157 EFO:0007429 MESH:D000039 ICD10CM:J36" MONDO:0000981 "An pericarditis (disease) caused by infection with Histoplasma." "UMLS:C0153279 ICD9:115.93 DOID:10234 SCTID:187059008" MONDO:0004910 "A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia." "SCTID:409712001 NCIT:C50655 HP:0001634 DOID:988" MONDO:0003136 "Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function." "DOID:4780 UMLS:C1332309 NCIT:C35798" http://identifiers.org/hgnc/8063 -MONDO:0007510 "Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis." "MESH:D004476 OMIM:129500 Orphanet:189 GARD:0002056 SCTID:54209007 DOID:14693 ICD10:Q82.8 GARD:0004253" +MONDO:0007510 "Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis." "MESH:D004476 OMIM:129500 Orphanet:189 GARD:0002056 SCTID:54209007 DOID:14693 ICD10CM:Q82.8 GARD:0004253" GO:0051149 "Any process that activates or increases the frequency, rate or extent of muscle cell differentiation." MONDO:0007132 "GARD:0000708 MESH:C566277 UMLS:C1862843 OMIM:106900" -MONDO:0007398 "MESH:C565144 OMIM:123050 ICD10:Q30.8 Orphanet:157832 UMLS:C1852501" +MONDO:0007398 "MESH:C565144 OMIM:123050 Orphanet:157832 ICD10CM:Q30.8 UMLS:C1852501" MONDO:0024570 "Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene." "UMLS:CN240514 OMIM:617343 UMLS:C4479229 Orphanet:99879" ENVO:01000307 "An environmental system which has its properties and dynamics determined by saline water." MONDO:0003095 "A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms." "UMLS:C1334373 NCIT:C9463 DOID:4688" @@ -43337,34 +43307,34 @@ CL:0002563 "An epithelial cell of the intestine." GO:0002184 "The process resulting in the release of a polypeptide chain from the ribosome in the cytoplasm, usually in response to a termination codon." UBERON:0010983 MONDO:0016441 "A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type." "Orphanet:228247 SCTID:403401007 ICD9:757.39 UMLS:C1274759" -MONDO:0020213 "The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." "Orphanet:98626 ICD9:371.56 UMLS:C0038457 DOID:0060442 ICD10:H18.5 SCTID:231931001" +MONDO:0020213 "The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." "Orphanet:98626 ICD9:371.56 UMLS:C0038457 ICD10CM:H18.5 DOID:0060442 SCTID:231931001" MONDO:0013018 "UMLS:C2748527 MESH:C567553 Orphanet:2340 OMIM:612843" -MONDO:0002239 "DOID:2181 ICD9:251.3 SCTID:190437000 ICD10:E89.1 UMLS:C0154190" +MONDO:0002239 "DOID:2181 ICD9:251.3 SCTID:190437000 UMLS:C0154190" MONDO:0002599 "A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component." "UMLS:C0206664 MESH:D018243 ICDO:9081/3 DOID:3305 NCIT:C3756" MONDO:0003197 "An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm." "DOID:4903 ICDO:8320/3 MESH:D000230 UMLS:C0205644 NCIT:C3681" NCBITaxon:11234 "GC_ID:1" HP:0002257 "Chronic inflammation of the nasal mucosa." "UMLS:C0008711 SNOMEDCT_US:86094006" -MONDO:0008269 "Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." "OMIM:174400 Orphanet:93339 SCTID:445216006 ICD10:Q69.1 GARD:0004417 MESH:C536332" +MONDO:0008269 "Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left." "OMIM:174400 Orphanet:93339 SCTID:445216006 GARD:0004417 MESH:C536332" CHEBI:35471 "A loosely defined grouping of drugs that have effects on psychological function." ENVO:01001200 "A terrestrial zone which is bounded by constructed, manufactured, or other anthropogenic material entities." MONDO:0013578 "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13." "UMLS:C3279839 Orphanet:464306 DOID:0070037 OMIM:614104" UBERON:0013228 CL:0000511 "A peptide hormone secreting cell that secretes androgen binding protein." -MONDO:0014738 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene." "DOID:0110590 OMIM:616697 UMLS:C4225241 ICD10:H90.3" +MONDO:0014738 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene." "DOID:0110590 OMIM:616697 UMLS:C4225241" http://identifiers.org/hgnc/20473 MONDO:0015656 "Orphanet:166481 UMLS:C1299598" NCBITaxon:3193 "GC_ID:1" UBERON:0013229 MONDO:0024331 "A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." "DOID:0080199 NCIT:C2955 UMLS:CN221574" MONDO:0010799 "UMLS:C1838854 DOID:0111734 OMIM:580000 MESH:C564013 Orphanet:168609" -MONDO:0015288 "A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)" "ICD10:H19.1* EFO:0007308 UMLS:C0022570 SCTID:9389005 Orphanet:137586 NCIT:C34743 ICD10:B00.5+ DOID:0080158 UMLS:C0019357" +MONDO:0015288 "A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)" "EFO:0007308 UMLS:C0022570 SCTID:9389005 Orphanet:137586 ICD10EXP:B00.5+ ICD10EXP:H19.1* NCIT:C34743 DOID:0080158 UMLS:C0019357" GO:0031399 "Any process that modulates the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein." MONDO:0000782 "A fruit allergy triggered by Ziziphus mauritiana plant fruit food product." "DOID:0060507" -MONDO:0017236 "Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus." "ICD9:580.4 UMLS:C0221239 ICD9:583.4 DOID:4776 SCTID:236392004 NCIT:C35264 MedDRA:10018378 Orphanet:280569 ICD10:N01 ICD9:582.4" +MONDO:0017236 "Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus." "ICD9:580.4 UMLS:C0221239 ICD9:583.4 DOID:4776 SCTID:236392004 NCIT:C35264 MedDRA:10018378 Orphanet:280569 ICD9:582.4 ICD10CM:N01" UBERON:0010986 http://identifiers.org/hgnc/12805 MONDO:0008349 "MESH:C566733 OMIM:178650 UMLS:C1867407" -MONDO:0019905 "Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies." "UMLS:CN036105 GARD:0001348 Orphanet:96173 SCTID:60650002 ICD10:Q93.2 MESH:C538022" +MONDO:0019905 "Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies." "ICD10CM:Q93.2 UMLS:CN036105 GARD:0001348 Orphanet:96173 SCTID:60650002 MESH:C538022" GO:0090031 "Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones." MONDO:0015655 "Orphanet:166478" MONDO:0014377 "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene." "DOID:0080429 UMLS:C4014531 OMIM:615871" @@ -43375,13 +43345,13 @@ MONDO:0009546 "OMIM:248100 MESH:C565425 UMLS:C1855468" http://identifiers.org/hgnc/11604 MONDO:0004523 "A squamous cell carcinoma of the skin with a prominent clear cell component." "NCIT:C4459 DOID:8288 UMLS:C0345978 SCTID:254652000" CL:1000444 "A mesothelial cell that is part of the anterior chamber of eyeball." "FMA:70615" -MONDO:0003393 "A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma." "UMLS:C0154199 ICD10:E32.9 SCTID:20673009 ICD9:254.9 ICD9:254 DOID:533 NCIT:C26962 ICD10:E32" -MONDO:0016659 "8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly)." "UMLS:CN201889 ICD10:Q92.3 GARD:0010304 Orphanet:251076 SCTID:765140006" +MONDO:0003393 "A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma." "UMLS:C0154199 SCTID:20673009 ICD9:254.9 ICD9:254 DOID:533 NCIT:C26962" +MONDO:0016659 "8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly)." "UMLS:CN201889 GARD:0010304 Orphanet:251076 SCTID:765140006" MONDO:0002120 "A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma." "NCIT:C3773 MESH:D018278 UMLS:C0206695 SCTID:253000007 DOID:1800 ICDO:8246/3" -MONDO:0016852 "Orphanet:261524 ICD10:Q99.8" +MONDO:0016852 "Orphanet:261524 ICD10CM:Q99.8" MONDO:0011733 "OMIM:606840 GARD:0010195 MESH:C536389" -MONDO:0019366 "Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD)." "UMLS:C2931872 OMIM:269920 OMIM:604369 UMLS:CN206051 MedDRA:10067531 ICD10:E77.8 Orphanet:834 GARD:0010870 MESH:C538523 MedDRA:10067529" -MONDO:0010420 "X-linked form of erythropoietic protoporphyria." "Orphanet:79278 GARD:0010915 OMIM:300752 Orphanet:443197 MESH:C567464 ICD10:E80.0" +MONDO:0019366 "Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD)." "UMLS:C2931872 OMIM:269920 OMIM:604369 ICD10CM:E77.8 UMLS:CN206051 MedDRA:10067531 Orphanet:834 GARD:0010870 MESH:C538523 MedDRA:10067529" +MONDO:0010420 "X-linked form of erythropoietic protoporphyria." "Orphanet:79278 GARD:0010915 OMIM:300752 Orphanet:443197 MESH:C567464 ICD10CM:E80.0" HP:0000078 "An abnormality of the genital system." "UMLS:C0744356 UMLS:C0281966" UBERON:0010720 MONDO:0015654 "UMLS:CN200064 Orphanet:166475" @@ -43393,42 +43363,42 @@ GO:2000828 "Any process that modulates the frequency, rate or extent of parathyr MONDO:0020592 "A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma." "SCTID:75860007 GARD:0007266 NCIT:C26850" MONDO:0020860 "Infection of the fauces by Corynebacterium diphtheriae." "ICD9:032.0 UMLS:C0012556 NCIT:C34545 SCTID:3419005" MONDO:0003328 "A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding." "NCIT:C40129 DOID:5196 UMLS:C1517110" -MONDO:0015753 "Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." "GARD:0011915 MESH:C579969 UMLS:C3710589 ICD10:G71.2 OMIM:609285 OMIM:609284 Orphanet:171881 SCTID:703532002" +MONDO:0015753 "Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." "ICD10CM:G71.2 GARD:0011915 MESH:C579969 UMLS:C3710589 OMIM:609285 OMIM:609284 Orphanet:171881 SCTID:703532002" http://identifiers.org/hgnc/11605 -MONDO:0008090 "A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever." "GARD:0006229 SCTID:191347008 MedDRA:10053176 ICD10:D70 ICD9:288.02 DOID:5339 MESH:C536227 NCIT:C3820 ICD10:D70.4 OMIM:162800 Orphanet:2686" +MONDO:0008090 "A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever." "GARD:0006229 ICD10CM:D70 SCTID:191347008 MedDRA:10053176 ICD9:288.02 MESH:C536227 DOID:5339 NCIT:C3820 OMIM:162800 Orphanet:2686" MONDO:0014321 "Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene." "OMIM:615723 UMLS:C3810367" -MONDO:0012930 "Orphanet:331176 UMLS:C2675526 ICD10:D70 OMIM:612541" -MONDO:0016321 "Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD)." "UMLS:C3161106 ICD10:J84.842 SCTID:707551007 Orphanet:217557 ICD10:P22.8" +MONDO:0012930 "ICD10CM:D70 Orphanet:331176 UMLS:C2675526 OMIM:612541" +MONDO:0016321 "Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD)." "UMLS:C3161106 ICD10CM:J84.842 ICD10CM:P22.8 SCTID:707551007 Orphanet:217557" MONDO:0009545 "GARD:0000173 MESH:C537721 OMIM:248010 UMLS:C2931597" http://identifiers.org/hgnc/11603 MONDO:0044259 "OBSOLETE. Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action." "OMIM:266300" GO:0019866 "The inner, i.e. lumen-facing, lipid bilayer of an organelle envelope; usually highly selective to most ions and metabolites." -MONDO:0016851 "Orphanet:261519 ICD10:Q99.8" +MONDO:0016851 "Orphanet:261519 ICD10CM:Q99.8" CHEBI:65212 "A carbohydrate derivative that is any derivative of a polysaccharide." HP:0033127 "An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body." MONDO:0012509 "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene." "Orphanet:189439 MESH:C566469 OMIM:610489" MONDO:0011999 "MESH:C564268 UMLS:C1842353 OMIM:608244" http://identifiers.org/hgnc/18060 GO:0036293 "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen." -MONDO:0007421 "Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant." "ICD10:Q87.0 SCTID:716243005 OMIM:124490 MESH:C565123 Orphanet:3232" +MONDO:0007421 "Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant." "SCTID:716243005 OMIM:124490 ICD10CM:Q87.0 MESH:C565123 Orphanet:3232" MONDO:0018918 "Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites." "MedDRA:10007426 UMLS:CN205299 Orphanet:56044" -MONDO:0010006 "Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration." "UMLS:C0036161 DOID:3323 Orphanet:309155 Orphanet:796 ICD10:E75.01 MESH:D012497 ICD10:E75.0 Orphanet:309169 NCIT:C85052 GARD:0007604 Orphanet:309162 GARD:0002521 OMIM:268800 SCTID:23849003" -MONDO:0007566 "Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars." "NCIT:C4461 Orphanet:65748 SCTID:254659009 ICD10:C44.3 GARD:0003090 DOID:5585 ICD10:C44.7 ICD10:C44.6 MESH:C536150 OMIM:132800 UMLS:C0345982" +MONDO:0010006 "Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration." "UMLS:C0036161 ICD10CM:E75.0 DOID:3323 Orphanet:309155 Orphanet:796 MESH:D012497 Orphanet:309169 NCIT:C85052 GARD:0007604 Orphanet:309162 GARD:0002521 OMIM:268800 SCTID:23849003 ICD10CM:E75.01" +MONDO:0007566 "Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars." "ICD10CM:C44.3 NCIT:C4461 Orphanet:65748 SCTID:254659009 ICD10CM:C44.7 GARD:0003090 DOID:5585 ICD10CM:C44.6 MESH:C536150 OMIM:132800 UMLS:C0345982" MONDO:0015653 "UMLS:CN200063 Orphanet:166472" -MONDO:0005515 "A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas." "ICD9:145.8 NCIT:C9314 ICD10:C04.1 ICD9:144.0 SCTID:363505006 ICD9:149.8 ICD10:C04.0 DOID:8618 ICD9:144.9 ICD9:145.9 EFO:0005570 ICD10:C04.9 ICD9:144.1 ICD10:C04 ICD9:144" +MONDO:0005515 "A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas." "ICD9:145.8 NCIT:C9314 ICD9:144.0 SCTID:363505006 ICD9:149.8 DOID:8618 ICD9:144.9 ICD9:145.9 EFO:0005570 ICD9:144.1 ICD9:144" http://identifiers.org/hgnc/20474 MONDO:0006768 "OBSOLETE. Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer." -MONDO:0004739 "A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body." "SCTID:36444000 MESH:D056806 NCIT:C84785 ICD10:E72.20 UMLS:C0154246 Orphanet:79167 ICD9:270.6 ICD10:E72.2 GARD:0007837 DOID:9267" +MONDO:0004739 "A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body." "SCTID:36444000 ICD10CM:E72.2 MESH:D056806 NCIT:C84785 UMLS:C0154246 Orphanet:79167 ICD9:270.6 GARD:0007837 DOID:9267" HP:0000818 "An abnormality of the endocrine system." "UMLS:C0014130 SNOMEDCT_US:362969004 MSH:D004700 UMLS:C4025823" MONDO:0007149 "OMIM:107750 UMLS:C1862555" HP:0002463 "Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations." "UMLS:C0023015 MSH:D007806 SNOMEDCT_US:62305002" MONDO:0006322 "A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." "UMLS:C3275160 EFO:1000400 NCIT:C35774" -MONDO:0010129 "This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus." "ICD10:Q87.8 MESH:C536907 OMIM:274265 Orphanet:3326 SCTID:723555007 UMLS:C1848812 GARD:0005202" +MONDO:0010129 "This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus." "MESH:C536907 ICD10CM:Q87.8 OMIM:274265 Orphanet:3326 SCTID:723555007 UMLS:C1848812 GARD:0005202" CHEBI:66956 "Any compound which can be used to treat or alleviate the symptoms of dyskinesia." GO:0022834 "Enables the transmembrane transfer of a solute by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts." CL:0002598 "BTO:0004402" -MONDO:0014495 "ICD10:Q87.8 Orphanet:436245 OMIM:616108 UMLS:C4015242" -MONDO:0016249 "Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients." "UMLS:CN201037 ICD10:C56 Orphanet:213524" +MONDO:0014495 "Orphanet:436245 ICD10CM:Q87.8 OMIM:616108 UMLS:C4015242" +MONDO:0016249 "Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients." "UMLS:CN201037 Orphanet:213524 ICD10CM:C56" http://identifiers.org/hgnc/14103 MONDO:0011736 "OMIM:606851 MESH:C564654 UMLS:C1847361" NCBITaxon:5592 "GC_ID:1" @@ -43438,7 +43408,6 @@ MONDO:0023164 "Pericarditis that is caused by an infection with a viral agent." ECTO:9000019 "An exposure to acetic acid." MONDO:0013031 "Orphanet:98892 MESH:C567876 UMLS:C2752071 OMIM:612881 Orphanet:2149" MONDO:0025404 "An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus." "UMLS:C0014342 MESH:D004753" -MONDO:0000651 "A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma." "DOID:0060118 UMLS:C3661979 NCIT:C35742 SCTID:118946009 SCTID:609622007 MESH:D013896 UMLS:C0039978" MONDO:0015652 "Orphanet:166469" MONDO:0012932 "OMIM:612554 UMLS:C2675523 MESH:C567259" UBERON:0014687 @@ -43455,7 +43424,7 @@ MONDO:0000458 "A molecular subtype of glioblastoma that is associated with young http://identifiers.org/hgnc/18062 CHR:9606-chr3p25.3 MONDO:0006642 "An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" "MESH:D000430 ICD9:291.0 EFO:1000800 SCTID:8635005 MedDRA:10001610" -MONDO:0016522 "A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11." "SCTID:726083008 UMLS:C2931444 GARD:0004752 ICD10:Q87.8 Orphanet:2351 MESH:C537223" +MONDO:0016522 "A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11." "ICD10CM:Q87.8 SCTID:726083008 UMLS:C2931444 GARD:0004752 Orphanet:2351 MESH:C537223" MONDO:0013953 "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene." "Orphanet:319547 OMIM:614889 UMLS:C4013947 Orphanet:319574" GO:0071375 "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals." CL:0002266 "A type D cell of the small intestine." "FMA:268736" @@ -43463,7 +43432,7 @@ MONDO:0015651 "UMLS:CN200062 Orphanet:166466" MONDO:0014524 "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene." "OMIM:616193 UMLS:C4015444" http://identifiers.org/hgnc/17964 MONDO:0012935 "Orphanet:67038 OMIM:612558" -MONDO:0003617 "Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack." "NCIT:C40118 UMLS:C0269041 ICD10:N70.11 SCTID:55551005 DOID:5731" +MONDO:0003617 "Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack." "NCIT:C40118 UMLS:C0269041 SCTID:55551005 DOID:5731 ICD10CM:N70.11" MONDO:0012945 "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene." "MESH:C567244 DOID:0060202 GARD:0010496 OMIM:612577 UMLS:C2675491 Orphanet:803" GO:0006887 "A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell." MONDO:0003616 "Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy." "NCIT:C40119 UMLS:C0269043 SCTID:36742000 DOID:5730" @@ -43484,55 +43453,55 @@ MONDO:0022496 "A syndrome characterized by severe intrauterine growth retardatio MONDO:0003383 "A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells." "UMLS:C1333591 NCIT:C6280 DOID:5301" GO:0010892 "Any process that activates or increases the frequency, rate or extent of mitochondrial translation as a result of a stimulus indicating the organism is under stress." GO:0009583 "The series of events in which a light stimulus (in the form of photons) is received and converted into a molecular signal." -MONDO:0018592 "Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy." "UMLS:CN242143 ICD10:M30.0 SCTID:239926000 UMLS:C0343190 GARD:0007415 ICD9:709.8 NCIT:C117295 Orphanet:439729" -MONDO:0019009 "Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated." "OMIM:607341 Orphanet:65683 ICD10:Q04.8 SCTID:766710005" -MONDO:0012682 "Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene." "OMIM:611521 UMLS:C1969086 MESH:C566928 ICD10:D82.4 Orphanet:331226" -MONDO:0019454 "A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2." "UMLS:C0002894 ICDO:9983/3 NCIT:C7506 EFO:0003811 SCTID:398623004 Orphanet:86839 MESH:D000754 ICD10:D46.2 MedDRA:10038270" -MONDO:0018435 "Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported." "ICD10:C92.0 Orphanet:402020 GARD:0012759" -MONDO:0001835 "Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis." "UMLS:C0015469 NCIT:C26769 MESH:D005158 ICD10:G51.0 DOID:13934 SCTID:280816001" +MONDO:0018592 "Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy." "UMLS:CN242143 SCTID:239926000 UMLS:C0343190 ICD10CM:M30.0 GARD:0007415 ICD9:709.8 NCIT:C117295 Orphanet:439729" +MONDO:0019009 "Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated." "OMIM:607341 Orphanet:65683 ICD10CM:Q04.8 SCTID:766710005" +MONDO:0012682 "Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene." "OMIM:611521 ICD10CM:D82.4 UMLS:C1969086 MESH:C566928 Orphanet:331226" +MONDO:0019454 "A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2." "UMLS:C0002894 ICD10CM:D46.2 ICDO:9983/3 NCIT:C7506 EFO:0003811 SCTID:398623004 Orphanet:86839 MESH:D000754 MedDRA:10038270" +MONDO:0018435 "Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported." "Orphanet:402020 ICD10CM:C92.0 GARD:0012759" +MONDO:0001835 "Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis." "UMLS:C0015469 NCIT:C26769 MESH:D005158 DOID:13934 SCTID:280816001 ICD10CM:G51.0" MONDO:0011737 "OMIM:606852 UMLS:C1847360 Orphanet:2828 MESH:C564653" -MONDO:0008663 "Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36." "OMIM:193230 MESH:C536677 UMLS:C1860405 DOID:0111570 Orphanet:91496 GARD:0009706 ICD10:H35.5" -MONDO:0011683 "Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." "ICD10:E70.3 DOID:0070098 Orphanet:79435 SCTID:715632003 OMIM:606574 UMLS:C1847836 MESH:C564696" +MONDO:0008663 "Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36." "OMIM:193230 MESH:C536677 UMLS:C1860405 DOID:0111570 ICD10CM:H35.5 Orphanet:91496 GARD:0009706" +MONDO:0011683 "Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." "DOID:0070098 Orphanet:79435 ICD10CM:E70.3 SCTID:715632003 OMIM:606574 UMLS:C1847836 MESH:C564696" http://identifiers.org/hgnc/16501 -MONDO:0015167 "Amniotic band syndrome (ABS) describes a group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies." "NCIT:C84552 MESH:D000652 GARD:0000429 SCTID:440214006 Orphanet:1034 ICD10:Q79.8" +MONDO:0015167 "Amniotic band syndrome (ABS) describes a group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies." "NCIT:C84552 MESH:D000652 ICD10CM:Q79.8 GARD:0000429 SCTID:440214006 Orphanet:1034" MONDO:0012832 "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene." "DOID:0110895 OMIM:612245 MESH:C567383 UMLS:C2677100" HP:0011793 "Neoplasm categorized according to the anatomical site of origin of the neoplasm." "UMLS:C4023185" -MONDO:0016036 "Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet. It is generally seen in middle-aged and elderly people, and affects men approximately 10 times more often than it affects women. It typically affects both feet and progresses slowly, but not indefinitely. The nodules are typically painless at first, but may cause pain when walking as they grow. Often, people with Ledderhose disease also have other conditions associated with the formation of excess fibrous connective tissue such as Dupuytren contracture, knuckle pads, or Peyronie disease. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have also been reported in association with this condition. The exact cause of Ledderhose disease is not known, but heredity is thought to play a role in many cases. Treatment, if needed, involves conservative management, steroid injections, radiotherapy, and surgery (plantar facia removal (fasciectomy) and surgical removal of of the fibrous tissue. The condition has a good prognosis, although slow progression is not uncommon. Fasciectomy has been shown to reduce the rate of recurrences." "GARD:0006873 MESH:C537000 MedDRA:10035154 Orphanet:199251 ICD10:M72.2" -MONDO:0018869 "Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent." "ICD10:Q04.3 Orphanet:51577 SCTID:253149002" +MONDO:0016036 "Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet. It is generally seen in middle-aged and elderly people, and affects men approximately 10 times more often than it affects women. It typically affects both feet and progresses slowly, but not indefinitely. The nodules are typically painless at first, but may cause pain when walking as they grow. Often, people with Ledderhose disease also have other conditions associated with the formation of excess fibrous connective tissue such as Dupuytren contracture, knuckle pads, or Peyronie disease. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have also been reported in association with this condition. The exact cause of Ledderhose disease is not known, but heredity is thought to play a role in many cases. Treatment, if needed, involves conservative management, steroid injections, radiotherapy, and surgery (plantar facia removal (fasciectomy) and surgical removal of of the fibrous tissue. The condition has a good prognosis, although slow progression is not uncommon. Fasciectomy has been shown to reduce the rate of recurrences." "GARD:0006873 MESH:C537000 MedDRA:10035154 Orphanet:199251" +MONDO:0018869 "Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent." "Orphanet:51577 SCTID:253149002 ICD10CM:Q04.3" http://identifiers.org/hgnc/11608 UBERON:0014686 http://identifiers.org/hgnc/8059 CHEBI:23354 "A low-molecular-weight, non-protein organic compound participating in enzymatic reactions as dissociable acceptor or donor of chemical groups or electrons." -MONDO:0002078 "A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum." "NCIT:C84482 MESH:D006343 UMLS:C0018816 SCTID:253273004 ICD9:745.8 ICD10:Q21.9 ICD9:745.9 DOID:1681 ICD10:Q21" +MONDO:0002078 "A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum." "NCIT:C84482 MESH:D006343 UMLS:C0018816 SCTID:253273004 ICD9:745.8 ICD9:745.9 DOID:1681" http://identifiers.org/hgnc/1856 GO:0042073 "The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins." MONDO:0001055 "DOID:10526" CHEBI:52214 "Any molecule or ion capable of binding to a central metal atom to form coordination complexes." -MONDO:0019404 "A usually benign perineurioma not associated with a nerve, arising from the soft tissues." "SCTID:404036006 GARD:0012698 ICDO:9571/0 MESH:D018317 UMLS:C0751691 ICD10:C47.9 ICD9:215.9 Orphanet:85102 DOID:4697 NCIT:C4973" +MONDO:0019404 "A usually benign perineurioma not associated with a nerve, arising from the soft tissues." "SCTID:404036006 ICD10CM:C47.9 GARD:0012698 ICDO:9571/0 MESH:D018317 UMLS:C0751691 ICD9:215.9 Orphanet:85102 DOID:4697 NCIT:C4973" CHEBI:36344 "Hadron is a subatomic particle which experiences the strong force." NCBITaxon:773 "PMID:11837299 PMID:10425758 PMID:12508871 PMID:7857789 PMID:8240958 GC_ID:11 PMID:8863415" NCBITaxon:178830 "PMID:25449305 GC_ID:1" GO:1902930 "Any process that modulates the frequency, rate or extent of alcohol biosynthetic process." http://identifiers.org/hgnc/3151 MONDO:0004989 "A carcinoma that arises from epithelial cells of the breast" "UMLS:C0678222 EFO:0000305 NCIT:C4872 SCTID:254838004 MESH:D001943 DOID:3459" -MONDO:0000957 "ICD9:375.81 ICD10:H04.81 DOID:10174 SCTID:417563003 UMLS:C0155253" +MONDO:0000957 "ICD9:375.81 DOID:10174 SCTID:417563003 UMLS:C0155253" GO:2000856 "Any process that stops, prevents or reduces the frequency, rate or extent of mineralocorticoid secretion." GO:0006732 "OBSOLETE. The chemical reactions and pathways involving coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed." GO:0046325 "Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle." MONDO:0003643 "A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage." "DOID:5774 UMLS:C1333817 NCIT:C27777" UBERON:0011925 -MONDO:0017391 "Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." "SCTID:717286002 ICD10:H18.5 Orphanet:293375" +MONDO:0017391 "Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." "ICD10CM:H18.5 SCTID:717286002 Orphanet:293375" MONDO:0004101 "A papillary carcinoma arising from the thyroid gland from multiple foci." "NCIT:C37304 UMLS:C1334817 DOID:7086" MONDO:0008102 "Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene." "Orphanet:166282 OMIM:163800 MESH:C563513 UMLS:C1834144" GO:1903825 "The process in which an organic acid is transported across a membrane." -MONDO:0016619 "A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations." "GARD:0002057 SCTID:27025001 MESH:D053360 Orphanet:248 OMIM:614941 OMIM:224900 NCIT:C84580 UMLS:C0406702 ICD10:Q82.4" +MONDO:0016619 "A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations." "GARD:0002057 SCTID:27025001 MESH:D053360 Orphanet:248 ICD10CM:Q82.4 OMIM:614941 OMIM:224900 NCIT:C84580 UMLS:C0406702" ECTO:0000200 "An exposure to lipid." -MONDO:0017243 "Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin." "Orphanet:280785 ICD10:Q82.2" -MONDO:0018159 "OMIM:615008 ICD10:D58.8 DOID:0080388 Orphanet:357008 UMLS:CN204596" -MONDO:0015439 "Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies." "ICD10:Q93.2 NCIT:C121983 MESH:C537636 Orphanet:1447 SCTID:81678004 GARD:0001339" +MONDO:0017243 "Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin." "Orphanet:280785 ICD10CM:Q82.2" +MONDO:0018159 "OMIM:615008 ICD10CM:D58.8 DOID:0080388 Orphanet:357008 UMLS:CN204596" +MONDO:0015439 "Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies." "ICD10CM:Q93.2 NCIT:C121983 MESH:C537636 Orphanet:1447 SCTID:81678004 GARD:0001339" MONDO:0003451 UBERON:0010728 -MONDO:0008923 "Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." "UMLS:C1859316 OMIM:212360 MESH:C535336 Orphanet:1366 GARD:0001139 ICD10:Q84.0 ICD10:Q82.8 DOID:0111245" +MONDO:0008923 "Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." "ICD10CM:Q82.8 UMLS:C1859316 ICD10CM:Q84.0 OMIM:212360 MESH:C535336 Orphanet:1366 GARD:0001139 DOID:0111245" MONDO:0001054 "UMLS:C0155157 SCTID:41564009 ICD9:372.44 DOID:10525" NCBITaxon:772 "PMID:8240958 GC_ID:11" MONDO:0032586 "OMIM:618183" @@ -43543,18 +43512,18 @@ MONDO:0006256 "A carcinoma that infiltrates the breast parenchyma. The vast majo UBERON:0012287 UBERON:0003639 UBERON:0036214 -MONDO:0016789 "An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process." "UMLS:CN226999 ICD10:E74.4 Orphanet:254746" -MONDO:0012297 "A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2." "ICD10:G11.4 UMLS:C1836010 DOID:0060491 OMIM:609541 MESH:C563702 Orphanet:320406" +MONDO:0016789 "An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process." "UMLS:CN226999 ICD10CM:E74.4 Orphanet:254746" +MONDO:0012297 "A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2." "UMLS:C1836010 DOID:0060491 OMIM:609541 MESH:C563702 Orphanet:320406 ICD10CM:G11.4" NCBITaxon:1639 "PMID:1906732 GC_ID:11 PMID:8782698 PMID:17773427" MONDO:0001507 "An labyrinthitis caused by infection with Viruses." "UMLS:C0155508 ICD9:386.35 DOID:12357 SCTID:409711008" -MONDO:0018156 "UMLS:CN204590 ICD10:Q93.5 Orphanet:356947" +MONDO:0018156 "ICD10CM:Q93.5 UMLS:CN204590 Orphanet:356947" MONDO:0003369 "An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells." "NCIT:C6326 UMLS:C1336940 DOID:5283" GO:2000855 "Any process that modulates the frequency, rate or extent of mineralocorticoid secretion." GO:0009891 "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances." GO:1905504 "Any process that stops, prevents or reduces the frequency, rate or extent of motile cilium assembly." UBERON:0035014 ENVO:09200013 "The wetness of some soil." -MONDO:0016525 "Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." "OMIMPS:103900 ICD10:E26.0 UMLS:CN229602 UMLS:C3713420 MESH:C580087 NCIT:C127160 Orphanet:235936 Orphanet:371861 SCTID:703231005" +MONDO:0016525 "Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." "OMIMPS:103900 UMLS:CN229602 UMLS:C3713420 MESH:C580087 NCIT:C127160 Orphanet:235936 Orphanet:371861 SCTID:703231005 ICD10CM:E26.0" CL:0012001 "A CNS neuron of the forebrain." ENVO:01000726 "Desublimation is a process in which a portion of some gas undergoes a phase transition into a portion of some solid." http://identifiers.org/hgnc/10664 @@ -43563,32 +43532,32 @@ http://identifiers.org/hgnc/3153 SO:0000233 "A transcript which has undergone the necessary modifications, if any, for its function. In eukaryotes this includes, for example, processing of introns, cleavage, base modification, and modifications to the 5' and/or the 3' ends, other than addition of bases. In bacteria functional mRNAs are usually not modified." MONDO:0010793 "MESH:C564016 OMIM:551200 UMLS:C1838875" UBERON:0011927 -MONDO:0018264 "A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity." "DOID:0080614 UMLS:C3805375 ICD10:E70.3 OMIM:113750 Orphanet:370097 SCTID:722058005" +MONDO:0018264 "A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity." "DOID:0080614 UMLS:C3805375 OMIM:113750 ICD10CM:E70.3 Orphanet:370097 SCTID:722058005" MONDO:0022739 "GARD:0001315" -MONDO:0010973 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene." "UMLS:C1832932 OMIM:600994 DOID:0110575 ICD10:H90.3 MESH:C563410" -MONDO:0017780 "20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported." "Orphanet:313781 ICD10:Q93.5 UMLS:CN203720" -MONDO:0018157 "Orphanet:35696 UMLS:CN227273 ICD10:E88.8" +MONDO:0010973 "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene." "UMLS:C1832932 OMIM:600994 DOID:0110575 MESH:C563410" +MONDO:0017780 "20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported." "ICD10CM:Q93.5 Orphanet:313781 UMLS:CN203720" +MONDO:0018157 "Orphanet:35696 UMLS:CN227273 ICD10CM:E88.8" ENVO:00000248 "A valley that contains, or contained, a glacier and was formed by glacial activity. Typically U-shaped in cross-section." -MONDO:0003155 "A hemangioma characterized by the presence of cavernous vascular spaces." "HP:0001048 ICDO:9121/0 SCTID:56975005 UMLS:C0018920 DOID:483 ICD10:D18.0 SCTID:416824008 NCIT:C3086 EFO:1000151 MESH:D006392" +MONDO:0003155 "A hemangioma characterized by the presence of cavernous vascular spaces." "HP:0001048 ICDO:9121/0 SCTID:56975005 UMLS:C0018920 DOID:483 SCTID:416824008 NCIT:C3086 EFO:1000151 MESH:D006392" GO:0060326 "The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis)." MONDO:0011990 "MESH:C564274 OMIM:608217 UMLS:C1842382 Orphanet:1949" -MONDO:0017438 "A non-syndromic amelia that involves the hindlimb." "SCTID:265798000 Orphanet:294969 HP:0009818 ICD10:Q72.0" -MONDO:0000953 "UMLS:C0153518 DOID:10151 SCTID:712525007 ICD10:C40.3 ICD9:170.8" +MONDO:0017438 "A non-syndromic amelia that involves the hindlimb." "SCTID:265798000 Orphanet:294969 HP:0009818" +MONDO:0000953 "UMLS:C0153518 DOID:10151 SCTID:712525007 ICD10CM:C40.3 ICD9:170.8" CHEBI:132233 "A primary amine that is isopropylamine in which a hydrogen attached to one of the methyl groups has been replaced by a phenyl group." http://identifiers.org/hgnc/1857 MONDO:0004564 "An anatomic abnormality of the thyroid gland." "DOID:8433 NCIT:C27331" -MONDO:0018050 "Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia." "GARD:0001369 OMIM:119100 Orphanet:3329 OMIM:610685 ICD10:Q73.8 OMIM:612576" -MONDO:0001699 "A dermatophytosis that involves the hands." "ICD9:110.2 SCTID:48971001 UMLS:C0153246 ICD10:B35.2 DOID:13369" -MONDO:0019356 "Orphanet:83001" +MONDO:0018050 "Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia." "GARD:0001369 OMIM:119100 Orphanet:3329 OMIM:610685 OMIM:612576 ICD10CM:Q73.8" +MONDO:0001699 "A dermatophytosis that involves the hands." "ICD9:110.2 SCTID:48971001 UMLS:C0153246 DOID:13369 ICD10CM:B35.2" +MONDO:0019356 "Orphanet:83001 ICD10CM:Q60-Q64 ICD10CM:Q50-Q56" NCBITaxon:774 "GC_ID:11" MONDO:0013204 "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene." "UMLS:C2750450 OMIM:613268 Orphanet:98974" MONDO:0002677 "A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern." "DOID:3517 UMLS:C1333156 NCIT:C9429" -MONDO:0018969 "Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." "GARD:0010504 SCTID:32219008 NCIT:C98907 HP:0030770 Orphanet:63260 ICD10:Q00.1 MedDRA:10011321 ICD9:740.1 UMLS:C0152426" +MONDO:0018969 "Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." "GARD:0010504 SCTID:32219008 NCIT:C98907 HP:0030770 Orphanet:63260 MedDRA:10011321 ICD9:740.1 UMLS:C0152426" NCBITaxon:5593 "GC_ID:1" MONDO:0002911 "A neuroglial tumor that arises from the brain stem." "NCIT:C8501 UMLS:C0677865 DOID:4202 SCTID:444545003" MONDO:0032588 "OMIM:618185" -MONDO:0007464 "OBSOLETE. Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." "Orphanet:99177 SCTID:95339000 OMIM:126300 ICD10:Q10.3 ICD9:743.63" -MONDO:0011991 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27." "MESH:C564273 OMIM:608219 DOID:0110496 UMLS:C1842381 ICD10:H90.3" +MONDO:0007464 "OBSOLETE. Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." "Orphanet:99177 SCTID:95339000 OMIM:126300 ICD9:743.63 ICD10CM:Q10.3" +MONDO:0011991 "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27." "MESH:C564273 OMIM:608219 DOID:0110496 UMLS:C1842381" MONDO:0031386 "OMIMPS:619142" http://identifiers.org/hgnc/11602 http://identifiers.org/hgnc/13164 @@ -43596,12 +43565,12 @@ CL:0000066 "A cell that is usually found in a two-dimensional sheet with a free UBERON:0003635 CHEBI:16393 "A sphing-4-enine in which the double bond is trans." UBERON:0002437 -MONDO:0007441 "Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth." "ICD10:K00.5 OMIM:605594 Orphanet:166260 OMIM:125490 GARD:0012796" +MONDO:0007441 "Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth." "OMIM:605594 Orphanet:166260 OMIM:125490 GARD:0012796 ICD10CM:K00.5" MONDO:0011993 "OMIM:608223" MONDO:0013158 "An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life." "DOID:0111242 Orphanet:588 NCIT:C126743 OMIM:613154 Orphanet:899 UMLS:C3150414" ENVO:04000010 "A surface layer which is composed primarily of soil." -MONDO:0018298 "A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations." "ICD10:Q85.9 UMLS:CN227313 Orphanet:371428 SCTID:716868003 OMIM:259600 OMIM:277950" -MONDO:0007800 "Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18." "DOID:0060406 MESH:C538309 ICD10:Q93.5 Orphanet:261974 Orphanet:1598 SCTID:270890001 NCIT:C84521 ICD9:758.39 OMIM:146390 GARD:0008631 UMLS:C0432442" +MONDO:0018298 "A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations." "UMLS:CN227313 Orphanet:371428 ICD10CM:Q85.9 SCTID:716868003 OMIM:259600 OMIM:277950" +MONDO:0007800 "Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18." "DOID:0060406 ICD10CM:Q93.5 MESH:C538309 Orphanet:261974 Orphanet:1598 SCTID:270890001 NCIT:C84521 ICD9:758.39 OMIM:146390 GARD:0008631 UMLS:C0432442" MONDO:0032583 "OMIM:618179" GO:0007215 "A series of molecular signals initiated by the binding of glutamate to a glutamate receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription." MONDO:0000275 "OBSOLETE. A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele)." "DOID:0050177" @@ -43612,7 +43581,7 @@ UBERON:0006136 MONDO:0024557 "Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene." "OMIM:604391 Orphanet:251347 UMLS:C1858391 NCIT:C132224" UBERON:0036217 MONDO:0021514 "A benign neoplasm that involves the pericardium." "NCIT:C8536 SCTID:92289001 UMLS:C0685118" -MONDO:0016002 "A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility." "ICD10:Q79.6 GARD:0002083 NCIT:C125700 UMLS:CN202461 MESH:C536198 UMLS:C0268342 Orphanet:1900 OMIM:225400 SCTID:718211004" +MONDO:0016002 "A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility." "GARD:0002083 NCIT:C125700 UMLS:CN202461 MESH:C536198 UMLS:C0268342 Orphanet:1900 ICD10CM:Q79.6 OMIM:225400 SCTID:718211004" MONDO:0006228 "A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." "UMLS:C1333785 EFO:1000276 DOID:5593 NCIT:C5472 ONCOTREE:PSTAD" UBERON:0014680 MONDO:0023246 "Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults." "SCTID:238631008 UMLS:C0302319" @@ -43621,6 +43590,7 @@ http://identifiers.org/hgnc/10669 MONDO:0010217 "A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities." "UMLS:C0265201 GARD:0008276 ICD9:759.89 UMLS:CN199649 Orphanet:1569 SCTID:414673004 OMIM:278800 MESH:C535992 NCIT:C84666" UBERON:0012283 UBERON:0006135 +MONDO:0100488 "Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women." MONDO:0015659 "Orphanet:166490 UMLS:CN200068" UBERON:0001238 HP:0000359 "An abnormality of the inner ear." "UMLS:C4021809" @@ -43628,8 +43598,8 @@ GO:0045763 "Any process that stops, prevents, or reduces the frequency, rate or CL:0000498 "An interneuron (also called relay neuron, association neuron or local circuit neuron) is a multipolar neuron which connects afferent neurons and efferent neurons in neural pathways. Like motor neurons, interneuron cell bodies are always located in the central nervous system (CNS)." "FMA:84776" MONDO:0032582 "OMIM:618178 DOID:0080394" GO:0006909 "A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles." -MONDO:0013632 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34." "OMIM:614211 ICD10:H90.3 Orphanet:90635 DOID:0110562" -MONDO:0016856 "Orphanet:261552 ICD10:Q43.1 UMLS:CN202199" +MONDO:0013632 "An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34." "OMIM:614211 Orphanet:90635 DOID:0110562" +MONDO:0016856 "Orphanet:261552 UMLS:CN202199 ICD10CM:Q43.1" http://identifiers.org/hgnc/15561 http://identifiers.org/hgnc/11600 MONDO:0019239 "An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process." "Orphanet:79194 UMLS:CN227601" @@ -43641,11 +43611,11 @@ http://identifiers.org/hgnc/32456 GO:0070093 "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of glucagon." http://identifiers.org/hgnc/10402 MONDO:0003310 "A type of arteriosclerosis in which calcification of the tunica media is the predominant feature." "DOID:5161 UMLS:C0887866 NCIT:C35770" -MONDO:0012739 "This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct." "ICD10:Q15.8 UMLS:C2678482 Orphanet:139450 MESH:C567512 OMIM:611863 GARD:0010300" +MONDO:0012739 "This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct." "ICD10CM:Q15.8 UMLS:C2678482 Orphanet:139450 MESH:C567512 OMIM:611863 GARD:0010300" NCBITaxon:5598 "PMID:24014900 GC_ID:1" -MONDO:0013413 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene." "OMIM:613767 ICD10:H35.5 UMLS:C3151066 DOID:0110402" +MONDO:0013413 "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene." "OMIM:613767 UMLS:C3151066 DOID:0110402" UBERON:0006134 -MONDO:0004624 "A malignant neoplasm involving the palatine uvula." "ICD9:145.4 ICD10:C05.2 DOID:8635 UMLS:C0153377 SCTID:363389001 NCIT:C35177" +MONDO:0004624 "A malignant neoplasm involving the palatine uvula." "ICD9:145.4 DOID:8635 UMLS:C0153377 SCTID:363389001 NCIT:C35177" MONDO:0015658 "Orphanet:166487 UMLS:CN200067" UBERON:0004834 MONDO:0003405 "A germ cell tumor of the central nervous system occurring in adults." "UMLS:C0280796 DOID:5349 NCIT:C6285" @@ -43654,34 +43624,34 @@ UBERON:0012282 http://identifiers.org/hgnc/3157 SO:0000483 "A primary transcript that is never translated into a protein." MONDO:0006846 "Severe hypertension that is characterized by rapid onset of extremely high blood pressure." "UMLS:C0745136 NCIT:C3118 EFO:1001031 UMLS:C0020540 MESH:D006974 DOID:10824 MedDRA:10025600 SCTID:70272006" -MONDO:0019526 "Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses." "GARD:0008653 SCTID:58872001 UMLS:C0263398 MedDRA:10056968 Orphanet:90000 DOID:0060567 ICD10:L95.1 MESH:C535509 ICD9:695.89" +MONDO:0019526 "Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses." "GARD:0008653 SCTID:58872001 UMLS:C0263398 MedDRA:10056968 Orphanet:90000 DOID:0060567 MESH:C535509 ICD10CM:L95.1 ICD9:695.89" GO:0030546 "The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased." UBERON:0036215 -MONDO:0005714 "A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia." "UMLS:C0039131 NCIT:C84649 MESH:D013590 DOID:9856 ICD10:A50.9 EFO:0007219 Orphanet:499009 SCTID:35742006 ICD9:090.9 ICD10:A50 ICD9:090" +MONDO:0005714 "A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia." "UMLS:C0039131 NCIT:C84649 MESH:D013590 DOID:9856 EFO:0007219 Orphanet:499009 SCTID:35742006 ICD9:090.9 ICD9:090 ICD10CM:A50" NCBITaxon:2560547 "GC_ID:1" -MONDO:0016855 "UMLS:CN202198 Orphanet:261537 ICD10:Q43.1" +MONDO:0016855 "ICD10CM:Q43.1 UMLS:CN202198 Orphanet:261537" GO:0060840 "The progression of the artery over time, from its initial formation to the mature structure. An artery is a blood vessel that carries blood away from the heart to a capillary bed." MONDO:0006518 "Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years." "EFO:1000656" MONDO:0012963 "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene." "OMIM:612624" HP:0030163 "Abnormality of vascular function." "UMLS:C4022603" -MONDO:0008472 "Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." "OMIM:184000 UMLS:C1866719 ICD10:Q77.7 Orphanet:163668 MESH:C566659" +MONDO:0008472 "Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness." "OMIM:184000 UMLS:C1866719 Orphanet:163668 ICD10CM:Q77.7 MESH:C566659" GO:0030990 "A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules." MONDO:0019352 -MONDO:0011264 "Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases." "MESH:C538003 Orphanet:98806 UMLS:C1414216 ICD10:G24.1 SCTID:702448007 GARD:0009630 DOID:0090039 OMIM:602629" +MONDO:0011264 "Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases." "ICD10CM:G24.1 MESH:C538003 Orphanet:98806 UMLS:C1414216 SCTID:702448007 GARD:0009630 DOID:0090039 OMIM:602629" GO:0010674 "Any process that decreases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle." UBERON:0012281 MONDO:0008862 "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene." "Orphanet:6 DOID:0080580 MESH:C535309 GARD:0009151 OMIM:210210" MONDO:0056796 "Renal damage and impaired renal function secondary to urinary tract obstruction." "UMLS:C0149939 DOID:0070314 SCTID:86249007 ICD9:593.89 NCIT:C120902" -MONDO:0009820 "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures." "OMIM:259770 MESH:C536063 Orphanet:2788 MedDRA:10052452 GARD:0004160 DOID:0060849 ICD10:Q87.5 NCIT:C130998 UMLS:C0432252" +MONDO:0009820 "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures." "OMIM:259770 MESH:C536063 Orphanet:2788 MedDRA:10052452 GARD:0004160 DOID:0060849 NCIT:C130998 ICD10CM:Q87.5 UMLS:C0432252" MONDO:0015657 "Orphanet:166484 UMLS:CN200066" NCBITaxon:5597 "GC_ID:1 PMID:18077629" MONDO:0032584 "OMIM:618180 DOID:0111662" MONDO:0006163 "A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture." "UMLS:C3272809 ICDO:8213/3 NCIT:C96485 EFO:1000196" -MONDO:0018014 "Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." "Orphanet:329942 ICD10:E71.3 SCTID:723552005 UMLS:CN204228" +MONDO:0018014 "Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother." "Orphanet:329942 SCTID:723552005 UMLS:CN204228 ICD10CM:E71.3" UBERON:0006133 UBERON:0004835 MONDO:0012094 "UMLS:C1837593 OMIM:608658 MESH:C563882" -MONDO:0014490 "Orphanet:438075 UMLS:C4015186 OMIM:616095 ICD10:E88.8" +MONDO:0014490 "Orphanet:438075 UMLS:C4015186 ICD10CM:E88.8 OMIM:616095" MONDO:0024489 "A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated." "NCIT:C28076" MONDO:0010530 MONDO:0010796 "MESH:C564015 UMLS:C1838867 OMIM:556500" @@ -43697,21 +43667,21 @@ MONDO:0021547 "DOID:0080243 UMLS:CN373594 OMIM:617607 Orphanet:100032" MONDO:0002248 UBERON:0012292 CHEBI:67012 "A L-alpha-amino acid anion which is the conjugate base of L-dopa, obtained by deprotonation of the carboxy group: major species at pH 7.3." -MONDO:0006805 "Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest." "ICD10:I20.0 NCIT:C66911 MedDRA:10022554 DOID:8805 UMLS:C0002965 MESH:D000789 EFO:1000985 ICD9:411.1" +MONDO:0006805 "Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest." "NCIT:C66911 MedDRA:10022554 ICD10CM:I20.0 DOID:8805 UMLS:C0002965 MESH:D000789 EFO:1000985 ICD9:411.1" UBERON:0001235 -MONDO:0017901 "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." "ICD10:D84.8 UMLS:CN203960 OMIM:209950 Orphanet:319569" +MONDO:0017901 "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." "UMLS:CN203960 OMIM:209950 ICD10CM:D84.8 Orphanet:319569" MONDO:0011444 "Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene." "OMIM:604356 Orphanet:233 SCTID:128083007 GARD:0009966" CL:0000492 "A CD4-positive, alpha-beta T cell that cooperates with other lymphocytes via direct contact or cytokine release to initiate a variety of immune functions." "CALOHA:TS-1146 FMA:70572" http://identifiers.org/hgnc/26575 -MONDO:0042487 "Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003" "ICD10CM:D06.9 DOID:8991 NCIT:C4000 ICD9:233.1 UMLS:C0851140 ICD10:D06 ICD10:D06.9 MESH:D018290 SCTID:254889004 ICD10CM:D06" +MONDO:0042487 "Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003" "DOID:8991 NCIT:C4000 ICD9:233.1 UMLS:C0851140 MESH:D018290 SCTID:254889004" CHR:9606-chr20q13.33 MONDO:0005840 UBERON:0000039 HP:0002248 "The vomiting of blood." "UMLS:C0018926 MSH:D006396 SNOMEDCT_US:8765009" UBERON:0005194 -MONDO:0009656 "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." "Orphanet:581 GARD:0007072 Orphanet:79270 NCIT:C84898 OMIM:252920 DOID:0111394 SCTID:59990008 ICD10:E76.2 UMLS:C0086648" +MONDO:0009656 "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." "NCIT:C84898 ICD10CM:E76.2 GARD:0007072 UMLS:C0086648 Orphanet:581 OMIM:252920 SCTID:59990008 DOID:0111394 Orphanet:79270" FOODON:03510019 -MONDO:0018440 "Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." "OMIM:602722 ICD10:N25.8 UMLS:C1864498 OMIM:267300 Orphanet:402041" +MONDO:0018440 "Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed." "OMIM:602722 UMLS:C1864498 OMIM:267300 ICD10CM:N25.8 Orphanet:402041" MONDO:0015918 "OBSOLETE. Rare neurodegenerative disease." "Orphanet:182070" UBERON:0003897 http://identifiers.org/hgnc/359 @@ -43719,28 +43689,28 @@ CHR:9606-chr2q UBERON:0001234 MONDO:0004529 "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present." "NCIT:C6583 DOID:8305 UMLS:C1335063" GO:2000767 "Any process that activates or increases the frequency, rate or extent of cytoplasmic translation." -MONDO:0000133 "The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9." "ICD10:D84.8 OMIM:242860 DOID:0090007 OMIM:616910 SCTID:234633000 Orphanet:2268 GARD:0002945 OMIMPS:242860 MESH:C537362 OMIM:614069 UMLS:CN201349 OMIM:616911" +MONDO:0000133 "The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9." "OMIM:242860 DOID:0090007 OMIM:616910 SCTID:234633000 Orphanet:2268 GARD:0002945 ICD10CM:D84.8 OMIMPS:242860 MESH:C537362 OMIM:614069 UMLS:CN201349 OMIM:616911" MONDO:0013470 "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene." "OMIM:613863 MESH:C567827 Orphanet:36387 DOID:0111295" PATO:0001294 "A scalar EM radiation quality which obtains by the capacity of the bearer to scatter or reflect radiation." GO:0051252 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA." MONDO:0100194 "A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation." -MONDO:0015481 "Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome." "ICD10:Q10.3 Orphanet:155889 SCTID:763133008" -MONDO:0012570 "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs." "ICD10:D68.4 UMLS:C1835813 OMIM:610842 SCTID:717941005 Orphanet:91135 UMLS:C4049241 MESH:C563654" +MONDO:0015481 "Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome." "Orphanet:155889 SCTID:763133008 ICD10CM:Q10.3" +MONDO:0012570 "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs." "UMLS:C1835813 OMIM:610842 SCTID:717941005 Orphanet:91135 UMLS:C4049241 MESH:C563654 ICD10CM:D68.4" MONDO:0007007 "Infections with bacteria of the genus ureaplasma." "SCTID:51105006 MESH:D016869 EFO:1001225" UBERON:0005195 MONDO:0700041 "OMIM:613013" -MONDO:0019242 "An acquired metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process." "UMLS:C0342712 ICD10:E71.0 Orphanet:79197 ICD10:E71.2 SCTID:116020001 ICD10:E71.1" -MONDO:0007125 "A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth." "ICD9:750.0 SCTID:67787004 MESH:C562396 NCIT:C124538 OMIM:106280 DOID:0060604 ICD10:Q38.1" +MONDO:0019242 "An acquired metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process." "UMLS:C0342712 ICD10CM:E71.1 ICD10CM:E71.2 Orphanet:79197 SCTID:116020001 ICD10CM:E71.0" +MONDO:0007125 "A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth." "ICD9:750.0 SCTID:67787004 ICD10CM:Q38.1 MESH:C562396 NCIT:C124538 OMIM:106280 DOID:0060604" MONDO:0021544 UBERON:0004830 -MONDO:0002039 "A disease affects cognitive processes." "ICD10:F09 SCTID:443265004 NCIT:C92196 DOID:1561 EFO:1001457 MESH:D019965 ICD9:294.9" -MONDO:0004709 "A neoplasm involving a occipital lobe." "DOID:910 ICD10:C71.4 ICD9:191.4 NCIT:C5574 SCTID:126957005 UMLS:C1263889 UMLS:C0153638" +MONDO:0002039 "A disease affects cognitive processes." "SCTID:443265004 NCIT:C92196 DOID:1561 EFO:1001457 ICD9:294.9 MESH:D019965" +MONDO:0004709 "A neoplasm involving a occipital lobe." "DOID:910 ICD9:191.4 NCIT:C5574 SCTID:126957005 UMLS:C1263889 UMLS:C0153638 ICD10CM:C71.4" NCBITaxon:517 "PMID:11491321 GC_ID:11" MONDO:0017200 "Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries." "UMLS:C2931462 GARD:0002365 MESH:C537271 Orphanet:2795" UBERON:0003898 http://identifiers.org/hgnc/358 MONDO:0011443 "Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene." "MESH:C565788 UMLS:C1858493 DOID:0111305 OMIM:604352" -MONDO:0001881 "A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria." "NCIT:C35498 Orphanet:36234 MESH:D012772 ICD10:A48.3 UMLS:C0600327 ICD9:040.82 DOID:14115 GARD:0009560 SCTID:18504008 UMLS:CN204669" +MONDO:0001881 "A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria." "NCIT:C35498 Orphanet:36234 MESH:D012772 UMLS:C0600327 ICD9:040.82 DOID:14115 GARD:0009560 SCTID:18504008 ICD10CM:A48.3 UMLS:CN204669" MONDO:0032581 "OMIM:618177 DOID:0080393" GO:0001870 "Any process that activates or increases the frequency, rate or extent of complement activation by the lectin pathway." MONDO:0014699 "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene." "OMIM:616579 DOID:0070070 UMLS:C4225275" @@ -43750,81 +43720,81 @@ GO:0008443 "Catalysis of the transfer of a phosphate group, usually from ATP, to GO:0030252 "The regulated release of growth hormone from secretory granules into the blood." CHEBI:63299 "Any organooxygen compound derived from a carbohydrate by replacement of one or more hydroxy group(s) by an amino group, a thiol group or similar heteroatomic groups. The term also includes derivatives of these compounds." UBERON:0002434 -MONDO:0017462 "A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1." "SCTID:55379003 NCIT:C132080 Orphanet:295018 UMLS:C0265661 ICD10:Q74.2" +MONDO:0017462 "A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1." "SCTID:55379003 ICD10CM:Q74.2 NCIT:C132080 Orphanet:295018 UMLS:C0265661" HP:0032169 "A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection." NCBITaxon:223472 "GC_ID:1" UBERON:0004831 MONDO:0004644 "SCTID:188746008 DOID:8696 UMLS:C0152275 ICD9:206.2 ICD9:206.20" UBERON:8410051 -MONDO:0008988 "Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I)." "DOID:0070340 ICD10:E72.2 OMIM:215700 UMLS:C0175683 GARD:0006114 SCTID:398680004 NCIT:C150601 Orphanet:247525 MedDRA:10058298" +MONDO:0008988 "Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I)." "DOID:0070340 OMIM:215700 UMLS:C0175683 GARD:0006114 SCTID:398680004 NCIT:C150601 ICD10CM:E72.2 Orphanet:247525 MedDRA:10058298" MONDO:0007140 UBERON:0001236 MONDO:0032580 "DOID:0080392 OMIM:618176" -MONDO:0007922 "Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." "NCIT:C128191 ICD9:743.63 ICD10:Q82.0 GARD:0000333 OMIM:153400 Orphanet:33001 DOID:0111509 MESH:C537710 SCTID:8634009 UMLS:C0265345" -MONDO:0020345 "OMIM:254210 OMIM:617143 OMIM:615120 OMIM:616330 Orphanet:98914 ICD10:G70.2 OMIM:616040 OMIM:616720 OMIM:617239" +MONDO:0007922 "Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." "NCIT:C128191 ICD9:743.63 GARD:0000333 OMIM:153400 Orphanet:33001 DOID:0111509 MESH:C537710 SCTID:8634009 ICD10CM:Q82.0 UMLS:C0265345" +MONDO:0020345 "OMIM:254210 OMIM:617143 OMIM:615120 ICD10CM:G70.2 OMIM:616330 Orphanet:98914 OMIM:616040 OMIM:616720 OMIM:617239" GO:0005981 "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glycogen." UBERON:0007592 CL:0009021 "A stromal cell found in the lamina propria of the large intestine." MONDO:0001047 MONDO:0700007 "A disease or disorder for which the cause is of uncertain or unknown." -MONDO:0011208 "Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." "ICD10:I77.8 MedDRA:10064281 SCTID:400171002 NCIT:C84835 MESH:D054853 UMLS:C0221011 ICD9:447.8 Orphanet:679 OMIM:602248 GARD:0006249" -MONDO:0013641 "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene." "UMLS:C3280214 OMIM:614225 Orphanet:2510 ICD10:Q87.0 DOID:0110717" -MONDO:0000949 "UMLS:C0155160 DOID:10139 SCTID:40787005 ICD9:372.50 ICD10:H11.10" +MONDO:0011208 "Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." "ICD10CM:I77.8 MedDRA:10064281 SCTID:400171002 NCIT:C84835 MESH:D054853 UMLS:C0221011 ICD9:447.8 Orphanet:679 OMIM:602248 GARD:0006249" +MONDO:0013641 "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene." "UMLS:C3280214 OMIM:614225 Orphanet:2510 DOID:0110717" +MONDO:0000949 "UMLS:C0155160 DOID:10139 SCTID:40787005 ICD9:372.50" NCBITaxon:777 "GC_ID:11 PMID:9226923" HP:0000275 "Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective)." "UMLS:C1849121 UMLS:C1837463" UBERON:0001231 UBERON:0001497 GO:0043231 "Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane." MONDO:0005227 "An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body." "EFO:0003030 NCIT:C26686 SCTID:128477000 MESH:D000038 ICD9:682.9 Wikipedia:Abscess ICD9:682.8 UMLS:C0000833" -MONDO:0010490 "A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28)." "UMLS:C4012395 Orphanet:370927 GARD:0012405 SCTID:733115009 OMIM:300934 ICD10:E77.8 DOID:0070257" -MONDO:0020346 "ICD10:G70.2 OMIM:603034 Orphanet:98915" -MONDO:0018130 "Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." "Orphanet:352649 SCTID:717942003 UMLS:CN204508 ICD10:G25.8 UMLS:C4303546" +MONDO:0010490 "A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28)." "UMLS:C4012395 Orphanet:370927 GARD:0012405 SCTID:733115009 OMIM:300934 ICD10CM:E77.8 DOID:0070257" +MONDO:0020346 "OMIM:603034 ICD10CM:G70.2 Orphanet:98915" +MONDO:0018130 "Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." "Orphanet:352649 SCTID:717942003 UMLS:CN204508 ICD10CM:G25.8 UMLS:C4303546" GO:0051650 "The directed movement of a vesicle to a specific location." -MONDO:0019140 "Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils." "ICD10:T62.2 Orphanet:73423 ICD9:988.2 GARD:0009299 SCTID:49434001 MESH:C537562" -MONDO:0019103 "Benign exophthalmos syndrome is characterised by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions." "UMLS:C4304668 Orphanet:71269 ICD10:H05.2 SCTID:719519007" +MONDO:0019140 "Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils." "Orphanet:73423 ICD9:988.2 GARD:0009299 ICD10CM:T62.2 SCTID:49434001 MESH:C537562" +MONDO:0019103 "Benign exophthalmos syndrome is characterised by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions." "UMLS:C4304668 ICD10CM:H05.2 Orphanet:71269 SCTID:719519007" UBERON:0001230 NCBITaxon:776 "GC_ID:11" GO:0045862 "Any process that activates or increases the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein." MONDO:0017298 "Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy." "SCTID:312929003 MESH:C538223 ICD9:362.10 Orphanet:284454 GARD:0008640 UMLS:C0730298" UBERON:0001496 MONDO:0003475 "A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)" "ICDO:9393/3 UMLS:C0334578 MESH:D004806 NCIT:C4319 DOID:5505" -MONDO:0100318 "A viral disease or post-viral disorder caused by infection with severe acute respiratory syndrome coronavirus 2 or the associated aftereffects of the disease." +MONDO:0100318 "A viral disease or post-viral disorder caused by infection with severe acute respiratory syndrome coronavirus 2 or the associated aftereffects of the disease." "ICD10CM:U00-U85" UBERON:0003893 MONDO:0009866 "PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2)." "Orphanet:79316 Orphanet:2880 GARD:0004278 OMIM:261680 UMLS:C0268194" MONDO:0044316 "OMIM:617441 UMLS:C4479504" MONDO:0003440 MONDO:0003922 "A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma." "DOID:6554 ICDO:8313/3 UMLS:C2075522 NCIT:C40079" -MONDO:0006970 "A concretion in the salivary gland." "DOID:12905 MESH:D015494 NCIT:C34994 MedDRA:10040631 ICD10:K11.5 ICD9:527.5 EFO:1001180 UMLS:C0036091 SCTID:28826002" +MONDO:0006970 "A concretion in the salivary gland." "DOID:12905 MESH:D015494 NCIT:C34994 MedDRA:10040631 ICD9:527.5 ICD10CM:K11.5 EFO:1001180 UMLS:C0036091 SCTID:28826002" UBERON:8410057 GO:0045787 "Any process that activates or increases the rate or extent of progression through the cell cycle." UBERON:8410056 MONDO:0011874 "Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis." "UMLS:C1843355 Orphanet:59303 MESH:C564365 GARD:0010583 SCTID:724278007 OMIM:607626" -MONDO:0000947 "ICD9:302.89 ICD9:302.9 SCTID:56627002 ICD9:302.79 DOID:10132" +MONDO:0000947 "ICD9:302.89 ICD9:302.9 ICD10CM:F50-F59 SCTID:56627002 ICD9:302.79 DOID:10132" NCBITaxon:779 "PMID:1581187 GC_ID:11 PMID:1380292 PMID:11760958 PMID:11414267" UBERON:0001499 GO:0072362 "OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter." MONDO:0044317 "OMIM:617442 UMLS:C4479510" UBERON:0001233 CHR:9606-chr2p -MONDO:0006858 "A disease involving the mouth." "SCTID:118938008 DOID:403 NCIT:C3240 UMLS:C0026636 ICD9:528.9 EFO:1001047 MESH:D009059" +MONDO:0006858 "A disease involving the mouth." "ICD10CM:K00-K14 SCTID:118938008 DOID:403 NCIT:C3240 UMLS:C0026636 ICD9:528.9 EFO:1001047 MESH:D009059" http://identifiers.org/hgnc/10660 UBERON:0003894 UBERON:0007590 MONDO:0037738 "A cancer that involves the cauda equina." "SCTID:363477002 UMLS:C0349017" -MONDO:0013767 "RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." "UMLS:C2674723 DOID:0110117 Orphanet:268114 SCTID:723508002 ICD10:D72.8 OMIM:614470" +MONDO:0013767 "RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." "UMLS:C2674723 DOID:0110117 Orphanet:268114 ICD10CM:D72.8 SCTID:723508002 OMIM:614470" MONDO:0022745 "ICD9:504 GARD:0008374 UMLS:C0264436 SCTID:32139003" -MONDO:0013191 "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene." "UMLS:C2750475 MESH:C567687 OMIM:613237 ICD10:N04.1 DOID:0111130" -MONDO:0009458 "Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." "NCIT:C135087 ICD10:Q77.7 SCTID:723995003 OMIM:242900 GARD:0004984 DOID:0060490 MedDRA:10048699 MESH:C536629 Orphanet:1830 UMLS:C0877024" +MONDO:0013191 "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene." "UMLS:C2750475 MESH:C567687 OMIM:613237 DOID:0111130" +MONDO:0009458 "Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome." "UMLS:C0877024 NCIT:C135087 DOID:0060490 GARD:0004984 OMIM:242900 MedDRA:10048699 MESH:C536629 SCTID:723995003 ICD10CM:Q77.7 Orphanet:1830" CL:0002465 "A conventional dendritic cell that expresses CD11b (ITGAM)." MONDO:0014175 "An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy." "Orphanet:1369 UMLS:C4321247 OMIM:615418 NCIT:C129977 DOID:0080335 DOID:0080130" -MONDO:0012833 "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." "NCIT:C38145 OMIM:612247 Orphanet:93262 DOID:0111161 SCTID:702361006 MESH:C567382 ICD10:Q75.1" +MONDO:0012833 "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)." "NCIT:C38145 OMIM:612247 Orphanet:93262 ICD10CM:Q75.1 DOID:0111161 SCTID:702361006 MESH:C567382" CHEBI:50846 "Biologically active substance whose activity affects or plays a role in the functioning of the immune system." -MONDO:0008709 "Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date." "UMLS:CN201238 GARD:0002096 OMIM:200995 ICD10:Q87.0 MESH:C573722 GARD:0000486 UMLS:C3495588 Orphanet:221054 SCTID:720417003" +MONDO:0008709 "Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date." "UMLS:CN201238 GARD:0002096 OMIM:200995 MESH:C573722 ICD10CM:Q87.0 GARD:0000486 UMLS:C3495588 Orphanet:221054 SCTID:720417003" UBERON:0000033 MONDO:0024295 "Skin diseases caused by bacteria." "MESH:D017192" -MONDO:0013261 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene." "ICD10:I42.0 DOID:0110456 Orphanet:54260 OMIM:613424" -MONDO:0021548 "OMIM:616509 Orphanet:91492 GARD:0001159 OMIM:601547 ICD10:Q12.0 Orphanet:98994" -MONDO:0019957 "PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1)." "UMLS:C0346407 ICDO:8152/1 Orphanet:97278 ICD10:E16.8 UMLS:C1882278 UMLS:CN206879 NCIT:C67453 ICD9:239.89 SCTID:255039001" +MONDO:0013261 "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene." "DOID:0110456 Orphanet:54260 ICD10CM:I42.0 OMIM:613424" +MONDO:0021548 "OMIM:616509 Orphanet:91492 ICD10CM:Q12.0 GARD:0001159 OMIM:601547 Orphanet:98994" +MONDO:0019957 "PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1)." "UMLS:C0346407 ICDO:8152/1 ICD10CM:E16.8 Orphanet:97278 UMLS:C1882278 UMLS:CN206879 NCIT:C67453 ICD9:239.89 SCTID:255039001" UBERON:0005192 MONDO:0013727 "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene." "EFO:0008899 OMIM:614389" FOODON:00002196 @@ -43838,9 +43808,9 @@ GO:0098531 "A DNA-binding transcription factor activity regulated by binding to MONDO:0044314 "OMIM:617433 Orphanet:791 UMLS:C4479481" HP:0000975 "Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather." "SNOMEDCT_US:364538006 SNOMEDCT_US:52613005 SNOMEDCT_US:415691001 UMLS:C0700590 MEDDRA:10020642 SNOMEDCT_US:312230002 MSH:D006945 UMLS:C0038990 UMLS:C0020458 MSH:D013546 SNOMEDCT_US:161857006 SNOMEDCT_US:415690000" http://identifiers.org/hgnc/15559 -MONDO:0700003 "Disorder associated with pregnancy, childbirth, and puerperium." +MONDO:0700003 "Disorder associated with pregnancy, childbirth, and puerperium." "ICD10CM:O94-O9A" http://identifiers.org/hgnc/18053 -MONDO:0003634 "The presence of abnormal amounts of protein in the urine." "DOID:576 NCIT:C38012 ICD10:R80.9 ICD10:R80 ICD9:791.0 MESH:D011507" +MONDO:0003634 "The presence of abnormal amounts of protein in the urine." "DOID:576 NCIT:C38012 ICD9:791.0 ICD10CM:R80 MESH:D011507" UBERON:0001493 MONDO:0043116 "GARD:0003249 MESH:C536284 UMLS:C2931159" http://identifiers.org/hgnc/21679 @@ -43850,15 +43820,15 @@ MONDO:0018729 "OBSOLETE. An instance of rare vascular tumor that is caused by a MONDO:0013023 "MESH:C567548 DOID:0080405 Orphanet:1991 OMIM:612858 UMLS:C2748505" MONDO:0017820 "OBSOLETE. A disease in which Cushing syndrome is a major feature." UBERON:0000031 -MONDO:0018227 "Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations." "UMLS:C0343206 GARD:0006725 ICD10:M31.8 Orphanet:36412 UMLS:CN204757 SCTID:239945009" +MONDO:0018227 "Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations." "UMLS:C0343206 ICD10CM:M31.8 GARD:0006725 Orphanet:36412 UMLS:CN204757 SCTID:239945009" GO:0006413 "The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA." MONDO:0007146 MONDO:0021354 "A neoplasm (disease) that involves the adipose tissue." "ICD9:239.2 SCTID:254831005 UMLS:C0206631 NCIT:C4248" MONDO:0044313 "OMIM:617432" -MONDO:0020342 "MESH:C579880 OMIM:161800 ICD10:G71.2 Orphanet:98904" +MONDO:0020342 "MESH:C579880 OMIM:161800 ICD10CM:G71.2 Orphanet:98904" http://identifiers.org/hgnc/9255 MONDO:0020812 "The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." "UMLS:C0011406 MESH:D003789 EFO:1001782" -MONDO:0019989 "Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer." "ICD10:N05.7 Orphanet:97564" +MONDO:0019989 "Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer." "ICD10CM:N05.7 Orphanet:97564" MONDO:0014222 "UMLS:C3714976 Orphanet:397596 OMIM:615513" UBERON:0001492 MONDO:0011727 "OMIM:606788 UMLS:CN244557" @@ -43866,10 +43836,10 @@ MONDO:0006140 "A rare, extremely well differentiated cervical mucinous adenocarc MONDO:0003844 "A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels." "DOID:6293 NCIT:C5451 UMLS:C1332885" PATO:0001693 "A viscosity which relatively high." MONDO:0000517 "A medulloblastoma that involves the brainstem." "DOID:0050899" -MONDO:0000987 "A disorder characterized by a change in the gallbladder wall due to excess cholesterol." "ICD10:K82.4 DOID:10254 SCTID:61565001 ICD9:575.6 UMLS:C0152456" +MONDO:0000987 "A disorder characterized by a change in the gallbladder wall due to excess cholesterol." "ICD10CM:K82.4 DOID:10254 SCTID:61565001 ICD9:575.6 UMLS:C0152456" MONDO:0044312 "OMIM:617425 UMLS:C4479452" GO:0007292 "Generation of the female gamete; specialised haploid cells produced by meiosis and along with a male gamete takes part in sexual reproduction." -MONDO:0020343 "Orphanet:98910 ICD10:G71.8" +MONDO:0020343 "Orphanet:98910 ICD10CM:G71.8" MONDO:0000637 "A malignant neoplasm involving the musculoskeletal system" "DOID:0060100" GO:0030017 "The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs." FOODON:03411374 "Crustaceans form a large, diverse arthropod taxon which includes such familiar animals as crabs, lobsters, crayfish, shrimp, krill, woodlice, and barnacles. [https://en.wikipedia.org/wiki/Crustacean]"@en @@ -43882,7 +43852,7 @@ NCBITaxon:134362 "GC_ID:1" MONDO:0003868 "A meningioma that affects the anterior foramen magnum." "DOID:6381 NCIT:C5281 UMLS:C1332302" MONDO:0007148 "OMIM:107700" MONDO:0017623 "A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS." "SCTID:722859001 Orphanet:306498 UMLS:C1959582 DOID:0080191 GARD:0012800" -MONDO:0020344 "OMIM:616324 OMIM:616314 ICD10:G70.2 OMIM:616720 OMIM:616323 OMIM:616321 OMIM:616313 OMIM:616326 OMIM:608931 OMIM:616325 OMIM:601462 OMIM:608930 OMIM:605809 OMIM:254300 OMIM:616304 OMIM:615120 OMIM:616322 Orphanet:98913 OMIM:614198" +MONDO:0020344 "OMIM:616324 OMIM:616314 OMIM:616720 OMIM:616323 OMIM:616321 OMIM:616313 OMIM:616326 OMIM:608931 OMIM:616325 OMIM:601462 OMIM:608930 OMIM:605809 OMIM:254300 ICD10CM:G70.2 OMIM:616304 OMIM:615120 OMIM:616322 Orphanet:98913 OMIM:614198" UBERON:0011090 MONDO:0024556 "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene." "OMIM:604364 NCIT:C161005 UMLS:C1858477 Orphanet:98820" MONDO:0000304 "A disease caused by infection with Talaromyces marneffei." "UMLS:C1274008 SCTID:372936000 DOID:0050288 SCTID:713315007" @@ -43897,16 +43867,17 @@ MONDO:0044310 "OMIM:617409 UMLS:C4479428 Orphanet:124" UBERON:0011091 MONDO:0006131 "A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)" "DOID:6458 EFO:1000159 ONCOTREE:CLNC SCTID:716592003 GARD:0010642 ICDO:0000/0 UMLS:C1370507 NCIT:C6905 Orphanet:251931" MONDO:0009544 "Orphanet:2477 MESH:C537453 OMIM:248000 GARD:0000148 UMLS:C3806412" -MONDO:0012929 "MESH:C567261 ICD10:G71.2 DOID:0080101 UMLS:C2675527 OMIM:612540 Orphanet:210163" +MONDO:0012929 "MESH:C567261 DOID:0080101 UMLS:C2675527 OMIM:612540 ICD10CM:G71.2 Orphanet:210163" MONDO:0022740 "GARD:0001316" MONDO:0005314 "The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)" "DOID:2378 UMLS:C0751967 MESH:D020529 EFO:0003929 SCTID:426373005" GO:0098801 "Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system." -MONDO:0018494 "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism." "ICD10:Q87.1 Orphanet:423306 UMLS:CN237496" -MONDO:0001215 "A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses." "ICD10:B48.2 DOID:11186 SCTID:80936003 UMLS:C0153285 ICD9:117.6" -MONDO:0019082 "Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis." "ICD10:L12.0 NCIT:C84389 UMLS:C0030805 ICD9:694.5 GARD:0005972 MESH:D010391 ICD10:L12.9 DOID:8506 EFO:0007187 SCTID:77090002 Orphanet:703 ICD10:L12" +MONDO:0018494 "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism." "Orphanet:423306 UMLS:CN237496 ICD10CM:Q87.1" +MONDO:0001215 "A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses." "DOID:11186 SCTID:80936003 UMLS:C0153285 ICD9:117.6" +MONDO:0019082 "Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis." "ICD10CM:L12.0 NCIT:C84389 UMLS:C0030805 ICD9:694.5 GARD:0005972 MESH:D010391 EFO:0007187 DOID:8506 SCTID:77090002 Orphanet:703" HP:0000927 "The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation." "UMLS:C4025818" MONDO:0043112 "UMLS:C2931742 MESH:C538131 GARD:0003157" MONDO:0100140 "OBSOLETE. A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging." +MONDO:0700043 MONDO:0003543 "A disease involving the trigeminal nerve." "SCTID:64309007 MESH:D020433 ICD9:350.8 DOID:561 NCIT:C26952" MONDO:0000387 "Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic)." "UMLS:C0271901 DOID:0050642 OMIM:206100 SCTID:44666001 MESH:C536357 OMIM:615234 HP:0004840" MONDO:0017785 "PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported." "Orphanet:313936 UMLS:CN203735" @@ -43918,10 +43889,10 @@ GO:0010185 "Any process that modulates the frequency, rate or extent of cellular MONDO:0007141 "OMIM:107440" MONDO:0003003 "An alveolar soft part sarcoma arising from the cervix." "NCIT:C40225 DOID:4442 UMLS:C1516408" UBERON:0011092 -MONDO:0018198 "Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy." "ICD10:G40.4 SCTID:766044005 Orphanet:363549" -MONDO:0011134 "Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported." "ICD10:Q87.0 SCTID:720819006 GARD:0005584 UMLS:C0795915 Orphanet:1553 OMIM:601707 MESH:C536735" +MONDO:0018198 "Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy." "ICD10CM:G40.4 SCTID:766044005 Orphanet:363549" +MONDO:0011134 "Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported." "ICD10CM:Q87.0 SCTID:720819006 GARD:0005584 UMLS:C0795915 Orphanet:1553 OMIM:601707 MESH:C536735" GO:0007517 "The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work." -MONDO:0006519 "A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma." "NCIT:C7418 ICD9:154.1 ICD10:C20 SCTID:363351006 DOID:1993 EFO:1000657 SCTID:254582000 MESH:D012004" +MONDO:0006519 "A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma." "NCIT:C7418 ICD9:154.1 SCTID:363351006 DOID:1993 EFO:1000657 SCTID:254582000 MESH:D012004" UBERON:0018120 MONDO:0012794 "ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis." "UMLS:C2677535 MESH:C567425 Orphanet:157954 OMIM:612079" HP:0011110 "Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis." "UMLS:C0040425 SNOMEDCT_US:90176007 MSH:D014069" @@ -43930,24 +43901,24 @@ http://identifiers.org/hgnc/9251 MONDO:0024333 "A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina." "SCTID:23056005 MESH:D012585 ICD9:724.3" NCBITaxon:11244 "GC_ID:1" MONDO:0001608 "A neoplasm involving a vagus nerve." "NCIT:C5831 UMLS:C1263901 ICD9:239.7 DOID:12984 SCTID:126976007" -MONDO:0017139 "Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies)." "UMLS:CN202556 ICD10:Q87.5 GARD:0004116 Orphanet:2749" +MONDO:0017139 "Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies)." "ICD10CM:Q87.5 UMLS:CN202556 GARD:0004116 Orphanet:2749" GO:0002639 "Any process that activates or increases the frequency, rate, or extent of immunoglobulin production." NCBITaxon:40119 "GC_ID:1" UBERON:0011093 FOODON:03420116 "Anatomical part of the plant or animal from which a food product or its major ingredient is derived."@en -MONDO:0014227 "UMLS:C3809781 ICD9:757.39 OMIM:615522 SCTID:711154007 Orphanet:324561 ICD10:Q82.8 GARD:0012384" -MONDO:0015285 "Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas." "OMIM:608837 UMLS:C0406810 Orphanet:1359 SCTID:733491005 GARD:0001119 OMIM:605244 ICD10:D44.8 NCIT:C4705 OMIM:160980 MESH:D056733 DOID:0050471" +MONDO:0014227 "UMLS:C3809781 ICD9:757.39 OMIM:615522 ICD10CM:Q82.8 SCTID:711154007 Orphanet:324561 GARD:0012384" +MONDO:0015285 "Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas." "OMIM:608837 UMLS:C0406810 Orphanet:1359 ICD10CM:D44.8 SCTID:733491005 GARD:0001119 OMIM:605244 NCIT:C4705 OMIM:160980 MESH:D056733 DOID:0050471" MONDO:0009542 "UMLS:C0796023 MESH:C563080 OMIM:247950" -MONDO:0019350 "Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis." "UMLS:CN206031 OMIM:270970 OMIM:182900 OMIM:612690 ICD9:282.0 UMLS:C0037889 Orphanet:822 DOID:12971 ICD10:D58.0 OMIM:612653 MedDRA:10019904 GARD:0006639 SCTID:55995005 OMIM:616649 NCIT:C97074 MESH:D013103" +MONDO:0019350 "Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis." "UMLS:CN206031 OMIM:270970 ICD10CM:D58.0 OMIM:182900 OMIM:612690 ICD9:282.0 UMLS:C0037889 Orphanet:822 DOID:12971 OMIM:612653 MedDRA:10019904 GARD:0006639 SCTID:55995005 OMIM:616649 NCIT:C97074 MESH:D013103" GO:0015085 "Enables the transfer of calcium (Ca) ions from one side of a membrane to the other." -MONDO:0016814 "Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." "MESH:C536035 Orphanet:255210 ICD10:G31.8 SCTID:717052002 OMIM:256000 GARD:0003671" -MONDO:0016832 "Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported." "Orphanet:261102 ICD10:Q92.3 UMLS:CN202160" +MONDO:0016814 "Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." "Orphanet:255210 MESH:C536035 SCTID:717052002 OMIM:256000 GARD:0003671 ICD10CM:G31.8" +MONDO:0016832 "Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported." "Orphanet:261102 UMLS:CN202160" MONDO:0011826 "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene." "UMLS:C1846284 Orphanet:361 OMIM:607398 NCIT:C123728" UBERON:0001491 MONDO:0043110 "UMLS:C2931054 MESH:C535885 GARD:0003055" MONDO:0008344 "SCTID:233954004 GARD:0008348 MESH:C535833 ICD9:993.2 OMIM:178400 ICD9:416.8" MONDO:0013029 "OMIM:612876 DOID:0111747 GARD:0010481 UMLS:C3887996" -MONDO:0010889 "Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities)." "OMIM:600459 Orphanet:1682 UMLS:C1838122 ICD10:Q87.8 MESH:C563937" +MONDO:0010889 "Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities)." "OMIM:600459 ICD10CM:Q87.8 Orphanet:1682 UMLS:C1838122 MESH:C563937" MONDO:0021437 "A lipoma that involves the stomach." "NCIT:C5258 SCTID:695751021000132104 UMLS:C1333777" CHEBI:22868 "A sodium salt of the conjugate of any bile acid with either glycine or taurine." GO:0007568 "A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700)." @@ -43955,7 +43926,7 @@ ENVO:01001681 "A gaseous front which separates two masses of air with different MONDO:0003449 MONDO:0016274 "OBSOLETE. Rare cervical cancer." "UMLS:CN201063 Orphanet:213761" MONDO:0007144 "MESH:C566271 OMIM:107550 UMLS:C1862681" -MONDO:0020340 "Orphanet:98889 OMIM:300388 ICD10:Q04.3 GARD:0006011 OMIM:615752 OMIM:616531" +MONDO:0020340 "Orphanet:98889 OMIM:300388 GARD:0006011 ICD10CM:Q04.3 OMIM:615752 OMIM:616531" UBERON:0011094 MONDO:0009541 "OMIM:247800 MESH:C565427 UMLS:C1855470" PATO:0002129 "A disposition inhering in a tumour by virtue of the bearer's disposition to invade surrounding tissues." @@ -43963,15 +43934,15 @@ PATO:0001546 "A physical quality inhering in a bearer by virtue of the bearer's UBERON:0010996 PATO:0000261 "A quality of a single physical entity which is held by a bearer when the latter exhibits a state of growth, differentiation, or development." GO:0005125 "The activity of a soluble extracellular gene product that interacts with a receptor to effect a change in the activity of the receptor to control the survival, growth, differentiation and effector function of tissues and cells." -MONDO:0005397 "Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing." "NCIT:C26785 MESH:D006042 HP:0000853 ICD10:E04.9 EFO:0004283 ICD9:240.9 DOID:12176 SCTID:3716002" -MONDO:0017771 "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations)." "OMIM:277000 Orphanet:3109 ICD10:Q51.8 OMIM:601076 NCIT:C124853 MedDRA:10065148" +MONDO:0005397 "Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing." "NCIT:C26785 MESH:D006042 HP:0000853 EFO:0004283 ICD9:240.9 DOID:12176 SCTID:3716002" +MONDO:0017771 "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations)." "OMIM:277000 Orphanet:3109 OMIM:601076 NCIT:C124853 MedDRA:10065148 ICD10CM:Q51.8" CL:2000007 "Chondrocyte forming the hyaline cartilage found in the knee joint." GO:1901605 "The chemical reactions and pathways involving an alpha-amino acid." MONDO:0014652 "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene." "OMIM:616468 Orphanet:891 UMLS:C4225316 DOID:0111410" UBERON:0001490 -MONDO:0011299 "Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene." "UMLS:C1864112 DOID:0090103 Orphanet:157941 OMIM:603218 ICD10:G10 MESH:C566398" +MONDO:0011299 "Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene." "UMLS:C1864112 DOID:0090103 Orphanet:157941 OMIM:603218 ICD10CM:G10 MESH:C566398" NCBITaxon:1437010 "PMID:11791233 GC_ID:1 PMID:11743200" CHEBI:25442 "Poisonous substance produced by fungi." MONDO:0017265 "Autosomal recessive form of inherited ichthyosis." "OMIM:617320 OMIMPS:242300 Orphanet:281097 DOID:0060655" -MONDO:0015630 "A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers." "NCIT:C131688 SCTID:359729006 UMLS:C1282974 ICD10:D68.0 Orphanet:166090 SCTID:359725000 OMIM:613554" +MONDO:0015630 "A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers." "NCIT:C131688 SCTID:359729006 UMLS:C1282974 ICD10CM:D68.0 Orphanet:166090 SCTID:359725000 OMIM:613554" MONDO:0012610 "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene." "UMLS:C1970207 OMIM:611081 MESH:C567021 DOID:0110885" diff --git a/reports/class-count-by-prefix.tsv b/reports/class-count-by-prefix.tsv index 2efa4fdc33..f41bfb5e38 100644 --- a/reports/class-count-by-prefix.tsv +++ b/reports/class-count-by-prefix.tsv @@ -17,7 +17,7 @@ prefix numberOfClasses "OBI" 7 "MAXO" 5 "CHR" 306 -"MONDO" 25008 +"MONDO" 24979 "CARO" 9 "IAO" 33 "UPHENO" 1 diff --git a/reports/class-stats.tsv b/reports/class-stats.tsv index ec8b79b68e..29cf28fe39 100644 --- a/reports/class-stats.tsv +++ b/reports/class-stats.tsv @@ -49,13 +49,13 @@ http://identifiers.org/hgnc/24036 "APC2" 0 0 0 0 0 0 GO:2001214 "positive regulation of vasculogenesis" 1 0 0 0 0 1 NCBITaxon:439490 "unclassified ssRNA viruses" 0 1 0 0 0 0 MONDO:0012467 "cold-induced sweating syndrome 2" 1 5 0 0 0 1 -MONDO:0015998 "isolated ectopia lentis" 1 12 0 0 0 1 +MONDO:0015998 "isolated ectopia lentis" 1 11 0 0 0 1 MONDO:0006048 "obsolete pancreatic neuroendocrine tumor" 0 0 0 0 0 0 UBERON:0004527 "alveolar process of maxilla" 0 0 0 0 0 1 MONDO:0045024 "cancer or benign tumor" 1 0 0 0 0 2 UBERON:0007842 "membrane bone" 0 0 0 0 0 0 http://identifiers.org/hgnc/7414 "MT-ATP6" 0 0 0 0 0 0 -MONDO:0014293 "autosomal dominant nonsyndromic hearing loss 58" 1 3 0 0 0 0 +MONDO:0014293 "autosomal dominant nonsyndromic hearing loss 58" 1 2 0 0 0 0 MONDO:0018387 "obsolete rare male infertility due to adrenal disorder" 0 2 0 0 0 0 UBERON:0010363 "endochondral element" 0 0 0 0 0 0 UBERON:0009014 "lower back skin" 0 0 0 0 0 1 @@ -86,7 +86,7 @@ HP:0003510 "Severe short stature" 1 5 0 0 0 0 MONDO:0000424 "inborn vitamin B12 deficiency" 1 2 0 0 0 1 MONDO:0100291 "early T cell progenitor acute lymphoblastic leukemia" 1 2 0 0 0 0 MONDO:0007399 "TWIST1-related craniosynostosis" 1 7 0 0 0 0 -MONDO:0020591 "disorder of peritoneum" 1 4 0 0 0 1 +MONDO:0020591 "disorder of peritoneum" 1 5 0 0 0 1 UBERON:0005688 "lens vesicle cavity" 0 0 0 0 0 1 MONDO:0017245 "intralobar congenital pulmonary sequestration" 0 2 0 0 0 0 CHEBI:76206 "xenobiotic metabolite" 1 0 0 0 0 0 @@ -94,7 +94,7 @@ CHEBI:35488 "central nervous system depressant" 1 0 0 0 0 0 UBERON:0005461 "levator scapulae muscle" 0 0 0 0 0 1 UBERON:0012151 "skeleton of manual digitopodium" 0 0 0 0 0 1 MONDO:0100394 "acute myeloid leukemia, t(1;22)" 1 1 0 0 0 0 -MONDO:0002811 "main bronchus cancer" 1 5 0 0 0 1 +MONDO:0002811 "main bronchus cancer" 1 4 0 0 0 1 HP:0003808 "Abnormal muscle tone" 0 1 0 0 0 0 GO:0032609 "interferon-gamma production" 1 0 0 0 0 0 MONDO:0018741 "paracetamol poisoning" 0 3 0 0 0 1 @@ -107,7 +107,7 @@ UBERON:0001046 "hindgut" 0 0 0 0 0 0 MONDO:0021631 "brain astrocytoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/2555 "CUL4B" 0 0 0 0 0 0 GO:0019233 "sensory perception of pain" 1 0 0 0 0 0 -MONDO:0006881 "orbital cellulitis" 1 9 0 0 0 0 +MONDO:0006881 "orbital cellulitis" 1 8 0 0 0 0 FOODON:00002470 "food object quality"@en 0 0 0 0 0 0 MONDO:0040700 "orbital dermoid cyst" 1 3 0 0 0 1 MONDO:0019423 "X-linked intellectual disability, Stoll type" 1 4 0 0 0 0 @@ -153,8 +153,8 @@ GO:0007585 "respiratory gaseous exchange by respiratory system" 1 0 0 0 0 0 MONDO:0007860 "focal palmoplantar and gingival keratoderma" 1 7 0 0 0 0 UBERON:0005897 "manus bone" 0 0 0 0 0 1 MONDO:0001297 "cardiac tamponade" 1 8 0 0 0 0 -MONDO:0003240 "thyroid gland disorder" 1 13 0 0 0 1 -MONDO:0020701 "brachydactyly type A1A" 0 1 0 0 0 1 +MONDO:0003240 "thyroid gland disorder" 1 11 0 0 0 1 +MONDO:0020701 "brachydactyly type A1A" 0 1 0 0 0 0 OGMS:0000063 "disease course" 1 0 0 0 0 0 UBERON:0004040 "cortical intermediate zone" 0 0 0 0 0 0 MONDO:0042983 "neurocutaneous syndrome" 1 4 0 0 0 0 @@ -187,16 +187,17 @@ http://identifiers.org/hgnc/3334 "EMP2" 0 0 0 0 0 0 MONDO:0019626 "isolated ankyloblepharon filiforme adnatum" 1 2 0 0 0 0 MONDO:0033044 "Meckel syndrome 13" 0 4 0 0 0 0 MONDO:0012174 "peripheral cone dystrophy" 0 3 0 0 0 0 +MONDO:0020734 "obsolete erythrocyte AMP deaminase deficiency" 0 3 0 0 0 0 MONDO:0017752 "defect in V-ATPase" 0 2 0 0 0 0 -MONDO:0006230 "gastric squamous cell carcinoma" 1 14 0 0 0 1 +MONDO:0006230 "gastric squamous cell carcinoma" 1 7 0 0 0 1 GO:0019438 "aromatic compound biosynthetic process" 1 0 0 0 0 0 -MONDO:0008420 "seborrheic keratosis" 1 12 0 0 0 0 +MONDO:0008420 "seborrheic keratosis" 1 11 0 0 0 0 MONDO:0015892 "growth hormone insensitivity syndrome" 1 7 0 0 0 0 NCBITaxon:431037 "unclassified Roseolovirus" 0 1 0 0 0 0 OBI:0100051 "specimen"@en 1 0 0 0 0 1 MONDO:0043726 "multiple organ dysfunction syndrome" 1 2 0 0 0 0 MONDO:0015863 "polyembryoma" 1 4 0 0 0 0 -MONDO:0005974 "strongyloidiasis" 1 17 0 0 0 0 +MONDO:0005974 "strongyloidiasis" 1 16 0 0 0 0 NBO:0000308 "sensation behavior" 1 0 0 0 0 0 UBERON:0005992 "pulmonary valve cusp" 0 0 0 0 0 1 http://identifiers.org/hgnc/8896 "PGK1" 0 0 0 0 0 0 @@ -204,7 +205,7 @@ MONDO:0016395 "foveal hypoplasia-presenile cataract syndrome" 0 5 0 0 0 0 MONDO:0004114 "urinary bladder small cell neuroendocrine carcinoma" 1 18 0 0 0 1 MONDO:0009970 "renal tubular dysgenesis of genetic origin" 1 4 0 0 0 1 MONDO:0011397 "autosomal dominant cerebellar ataxia, deafness and narcolepsy" 1 5 0 0 0 0 -MONDO:0008378 "retinitis pigmentosa 9" 1 6 0 0 0 1 +MONDO:0008378 "retinitis pigmentosa 9" 1 5 0 0 0 1 MONDO:0020586 "factor V deficiency" 1 2 0 0 0 0 MONDO:0017777 "obsolete rat-bite fever" 0 0 0 0 0 0 MONDO:0009057 "cyanosis and hepatic disease" 0 3 0 0 0 0 @@ -212,18 +213,18 @@ CHEBI:167559 "glycan" 1 0 0 0 0 0 MONDO:0000141 "mosaic variegated aneuploidy syndrome" 1 11 0 0 0 0 NCBITaxon:10090 "Mus musculus" 0 1 0 0 0 0 http://identifiers.org/hgnc/3381 "EPB42" 0 0 0 0 0 0 -MONDO:0017178 "osteochondritis dissecans" 1 15 0 0 0 0 +MONDO:0017178 "osteochondritis dissecans" 1 14 0 0 0 0 UBERON:0035111 "medial plantar nerve" 0 0 0 0 0 1 MONDO:0010892 "obsolete mitochondrial myopathy and sideroblastic anemia" 0 0 0 0 0 0 -MONDO:0011535 "split hand-foot malformation 4" 1 6 0 0 0 1 +MONDO:0011535 "split hand-foot malformation 4" 1 5 0 0 0 1 GO:0051924 "regulation of calcium ion transport" 1 0 0 0 0 1 MONDO:0005403 "obsolete neonatal systemic lupus erthematosus" 0 0 0 0 0 0 -MONDO:0002206 "sweat gland cancer" 1 4 0 0 0 1 +MONDO:0002206 "sweat gland cancer" 1 3 0 0 0 1 MONDO:0015273 "complete atrioventricular canal" 1 6 0 0 0 0 MONDO:0024429 "Alice in Wonderland syndrome" 1 2 0 0 0 0 http://identifiers.org/hgnc/3229 "EGF" 0 0 0 0 0 0 MONDO:0005661 "babesiosis" 1 11 0 0 0 1 -MONDO:0018583 "human infection by orthopoxvirus" 0 3 0 0 0 0 +MONDO:0018583 "human infection by orthopoxvirus" 0 2 0 0 0 0 MONDO:0007983 "Schmid metaphyseal chondrodysplasia" 1 7 0 0 0 0 GO:0140238 "presynaptic endocytosis" 1 0 0 0 0 1 MONDO:0015300 "cataract - microcornea syndrome" 1 8 0 0 0 0 @@ -245,14 +246,14 @@ CL:2000033 "limb basal cell of epidermis" 1 0 0 0 0 1 http://identifiers.org/hgnc/11075 "SLC9A3R1" 0 0 0 0 0 0 MONDO:0008446 "sperm protamine P4" 0 1 0 0 0 0 HP:0100299 "Muscle fiber inclusion bodies" 0 1 0 0 0 0 -MONDO:0000989 "mumps infectious disease" 1 11 0 0 0 1 +MONDO:0000989 "mumps infectious disease" 1 10 0 0 0 1 MONDO:0020081 "macrophage or histiocytic tumor" 0 2 0 0 0 0 MONDO:0018579 "disorder of ketone body transport" 0 2 0 0 0 0 MONDO:0003215 "apocrine sweat gland cancer" 1 3 0 0 0 1 http://identifiers.org/hgnc/26559 "ZFYVE27" 0 0 0 0 0 0 MONDO:0013038 "CLOVES syndrome" 1 9 0 0 0 0 MONDO:0018292 "congenital disorder of glycosylation-related bone disorder" 0 2 0 0 0 1 -MONDO:0005510 "hydronephrosis" 1 8 0 0 0 0 +MONDO:0005510 "hydronephrosis" 1 7 0 0 0 0 MONDO:0000050 "isolated congenital growth hormone deficiency" 0 13 0 0 0 0 MONDO:0017559 "congenital elbow dislocation, bilateral" 0 2 0 0 0 0 MONDO:0004463 "cellular phase chronic idiopathic myelofibrosis" 1 4 0 0 0 0 @@ -265,7 +266,7 @@ MONDO:0021545 "myomatous neoplasm" 1 3 0 0 0 1 MONDO:0003299 "colorectal leiomyoma" 1 3 0 0 0 1 HP:0000238 "Hydrocephalus" 1 3 0 0 0 0 CL:1000481 "transitional myocyte of atrioventricular bundle" 1 2 0 0 0 1 -MONDO:0008397 "aplasia of lacrimal and salivary glands" 1 6 0 0 0 0 +MONDO:0008397 "aplasia of lacrimal and salivary glands" 1 4 0 0 0 0 MONDO:0100485 "KCNH1 associated disorder" 1 0 0 0 0 1 GO:0001911 "negative regulation of leukocyte mediated cytotoxicity" 1 0 0 0 0 1 http://identifiers.org/hgnc/3327 "ELN" 0 0 0 0 0 0 @@ -282,9 +283,9 @@ UBERON:0036925 "wall of eyeball" 0 0 0 0 0 1 MONDO:0010523 "X-linked reticulate pigmentary disorder" 1 6 0 0 0 0 HP:0001744 "Splenomegaly" 1 3 0 0 0 0 MONDO:0011531 "Noonan syndrome 2" 0 6 0 0 0 0 -MONDO:0019402 "beta thalassemia" 1 13 0 0 0 0 +MONDO:0019402 "beta thalassemia" 1 12 0 0 0 0 MONDO:0019160 "primary progressive freezing gait" 1 4 0 0 0 0 -MONDO:0008381 "dominant pericentral pigmentary retinopathy" 1 6 0 0 0 0 +MONDO:0008381 "dominant pericentral pigmentary retinopathy" 1 5 0 0 0 0 MONDO:0024552 "linear skin defects with multiple congenital anomalies 1" 1 2 0 0 0 1 GO:0000792 "heterochromatin" 1 0 0 0 0 0 GO:0032501 "multicellular organismal process" 1 0 0 0 0 0 @@ -292,7 +293,7 @@ MONDO:0005354 "chronic hepatitis C virus infection" 1 4 0 0 0 1 MONDO:0000719 "obsolete Baraitser-winter syndrome" 0 0 0 0 0 0 UBERON:0001355 "deep femoral artery" 0 0 0 0 0 1 MONDO:0012097 "spondylocostal dysostosis 2, autosomal recessive" 0 4 0 0 0 1 -MONDO:0006044 "nephrosclerosis" 1 9 0 0 0 0 +MONDO:0006044 "nephrosclerosis" 1 7 0 0 0 0 MONDO:0016140 "sarcoglycanopathy" 1 2 0 0 0 1 MONDO:0018885 "orbital leiomyoma" 1 5 0 0 0 0 UBERON:0009778 "pleural sac" 0 0 0 0 0 1 @@ -309,8 +310,8 @@ MONDO:0020520 "adult pulmonary Langerhans cell histiocytosis" 1 7 0 0 0 0 http://identifiers.org/hgnc/6740 "LYZ" 0 0 0 0 0 0 MONDO:0006381 "plexiform ameloblastoma" 1 3 0 0 0 0 UBERON:4300226 "forelimb bud mesenchyme" 0 0 0 0 0 1 -MONDO:0002965 "parovarian cyst" 1 6 0 0 0 0 -MONDO:0001209 "common wart" 1 10 0 0 0 0 +MONDO:0002965 "parovarian cyst" 1 5 0 0 0 0 +MONDO:0001209 "common wart" 1 8 0 0 0 0 UBERON:0003849 "mesencephalic neural crest" 0 0 0 0 0 1 MONDO:0022693 "cerebral calcification cerebellar hypoplasia" 0 1 0 0 0 0 MONDO:0011617 "arthropathy, erosive" 0 3 0 0 0 0 @@ -327,14 +328,14 @@ MONDO:0032902 "Joubert syndrome 36" 0 1 0 0 0 0 MONDO:0015749 "6q16 deletion syndrome" 1 3 0 0 0 1 MONDO:0010298 "Lesch-Nyhan syndrome" 1 14 0 0 0 0 MONDO:0013908 "thyrotoxic periodic paralysis, susceptibility to, 3" 0 2 0 0 0 0 -MONDO:0004747 "cleft lip" 1 11 0 0 0 0 +MONDO:0004747 "cleft lip" 1 9 0 0 0 0 UBERON:0006922 "cervix squamous epithelium" 0 0 0 0 0 1 UBERON:0003715 "splanchnic nerve" 0 0 0 0 0 1 MONDO:0019239 "inborn disorder of serine family metabolism" 1 2 0 0 0 1 MONDO:0018649 "obsolete cerebral visual impairment" 1 6 0 0 0 0 MONDO:0019277 "epidermal appendage anomaly" 0 1 0 0 0 0 CL:0000550 "polychromatophilic erythroblast" 1 1 0 0 0 0 -MONDO:0001868 "primary angle-closure glaucoma" 1 10 0 0 0 0 +MONDO:0001868 "primary angle-closure glaucoma" 1 9 0 0 0 0 MONDO:0005870 "necatoriasis" 1 8 0 0 0 0 NCBITaxon:1129771 "Leptotrichiaceae" 0 1 0 0 0 0 GO:2001169 "regulation of ATP biosynthetic process" 1 0 0 0 0 1 @@ -372,9 +373,9 @@ MONDO:0020362 "inverse Marcus-Gunn phenomenon" 1 3 0 0 0 0 MONDO:0008336 "pterygium colli, isolated" 0 3 0 0 0 0 MONDO:0000933 "subglottis neoplasm" 1 4 0 0 0 1 ENVO:01000752 "area of barren land"@en 1 0 0 0 0 0 -MONDO:0017763 "disorder of iron metabolism and transport" 0 3 0 0 0 0 +MONDO:0017763 "disorder of iron metabolism and transport" 0 2 0 0 0 0 MONDO:0012413 "syndromic microphthalmia type 5" 1 8 0 0 0 1 -MONDO:0005151 "endocrine system disorder" 1 9 0 0 0 1 +MONDO:0005151 "endocrine system disorder" 1 11 0 0 0 1 MONDO:0012465 "hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency" 1 7 0 0 0 0 MONDO:0001729 "active cochlear Meniere disease" 0 4 0 0 0 0 http://identifiers.org/hgnc/15901 "IFT52" 0 0 0 0 0 0 @@ -385,7 +386,7 @@ NCBITaxon:104454 "Heterophyes" 0 1 0 0 0 0 UBERON:0005327 "mesonephric glomerular epithelium" 0 0 0 0 0 1 FOODON:03411237 "shrimp"@en 0 0 0 0 0 0 NCBITaxon:712 "Pasteurellaceae" 0 7 0 0 0 0 -MONDO:0000926 "eye accommodation disease" 1 5 0 0 0 0 +MONDO:0000926 "eye accommodation disease" 1 4 0 0 0 0 HP:0000752 "Hyperactivity" 1 3 0 0 0 0 MONDO:0000366 "obsolete glycogen storage disease IX" 0 0 0 0 0 0 FOODON:03400164 "dairy product (us cfr)"@en 1 1 0 0 0 0 @@ -396,14 +397,14 @@ GO:0005981 "regulation of glycogen catabolic process" 1 0 0 0 0 1 UBERON:0017659 "ventral surface of penis" 0 0 0 0 0 1 MONDO:0005319 "humerus fracture" 1 4 0 0 0 0 MONDO:0007335 "orofacial cleft 1" 1 6 0 0 0 0 -MONDO:0004979 "asthma" 1 20 0 0 0 0 +MONDO:0004979 "asthma" 1 18 0 0 0 0 MONDO:0013685 "pancreatic cancer, susceptibility to, 4" 1 2 0 0 0 1 GO:0045763 "negative regulation of cellular amino acid metabolic process" 1 0 0 0 0 1 UBERON:0001265 "trabecula of spleen" 0 0 0 0 0 1 MONDO:0041959 "fibrosis of bile duct" 0 2 0 0 0 0 MONDO:0018548 "acute poisoning by drugs with membrane-stabilizing effect" 1 2 0 0 0 0 UBERON:0009842 "glandular acinus" 0 0 0 0 0 1 -MONDO:0002572 "aspiration pneumonitis" 1 5 0 0 0 0 +MONDO:0002572 "aspiration pneumonitis" 1 4 0 0 0 0 MONDO:0008065 "nasal groove, familial transverse" 0 2 0 0 0 0 MONDO:0030998 "hearing loss, autosomal dominant 80" 0 1 0 0 0 0 MONDO:0010991 "laterality defects, autosomal dominant" 0 5 0 0 0 0 @@ -429,7 +430,7 @@ UBERON:0015794 "left lung lobar bronchus epithelium" 0 0 0 0 0 1 MONDO:0028741 "obsolete overgrowth or tall stature syndrome with skeletal involvement" 0 1 0 0 0 0 GO:0015749 "monosaccharide transmembrane transport" 1 0 0 0 0 0 MONDO:0054560 "anauxetic dysplasia 1" 0 1 0 0 0 0 -MONDO:0006660 "arthus reaction" 1 10 0 0 0 0 +MONDO:0006660 "arthus reaction" 1 9 0 0 0 0 MONDO:0013634 "neuropathy, hereditary sensory, type 2C" 1 4 0 0 0 1 MONDO:0002683 "adult choroid plexus neoplasm" 1 3 0 0 0 1 MONDO:0017883 "obsolete multilocular cystic clear cell renal cell neoplasm of low malignant potential" 0 0 0 0 0 0 @@ -479,7 +480,7 @@ MONDO:0015056 "acquired angioedema type 1" 1 3 0 0 0 0 MONDO:0020108 "autoimmune hemolytic anemia" 1 14 0 0 0 1 CHEBI:35134 "metalloprotein" 0 0 0 0 0 0 CL:0000123 "neuron associated cell (sensu Vertebrata)" 0 0 0 0 0 0 -MONDO:0004871 "perianal hematoma" 0 4 0 0 0 0 +MONDO:0004871 "perianal hematoma" 0 3 0 0 0 0 MONDO:0010899 "autosomal dominant nocturnal frontal lobe epilepsy 1" 1 5 0 0 0 1 http://identifiers.org/hgnc/4444 "GP9" 0 0 0 0 0 0 UBERON:0001167 "wall of stomach" 0 0 0 0 0 1 @@ -514,7 +515,7 @@ http://identifiers.org/hgnc/2621 "CYP2C19" 0 0 0 0 0 0 http://identifiers.org/hgnc/14938 "PIGT" 0 0 0 0 0 0 MONDO:0006618 "vibratory urticaria" 1 8 0 0 0 0 CL:0002363 "keratocyte" 1 0 0 0 0 1 -MONDO:0005233 "non-small cell lung carcinoma" 1 12 0 0 0 0 +MONDO:0005233 "non-small cell lung carcinoma" 1 11 0 0 0 0 MONDO:0005263 "obsolete unipolar depression" 0 0 0 0 0 0 MONDO:0000475 "obsolete pyrimidine metabolic disorder" 0 0 0 0 0 0 MONDO:0000854 "obsolete Stickler syndrome" 0 0 0 0 0 0 @@ -523,7 +524,6 @@ UBERON:0000468 "multicellular organism" 1 0 0 0 0 0 MONDO:0009097 "persistent hyperplastic primary vitreous, autosomal recessive" 1 4 0 0 0 1 MONDO:0008433 "small cell lung carcinoma" 1 16 0 0 0 1 GO:0071825 "protein-lipid complex subunit organization" 1 0 0 0 0 0 -MONDO:0014053 "stomatin-like protein-2, hyperphosphorylation of" 0 1 0 0 0 0 GO:0019211 "phosphatase activator activity" 1 0 0 0 0 1 UBERON:0005316 "endocardial endothelium" 0 0 0 0 0 1 UBERON:0000326 "pancreatic juice" 0 0 0 0 0 1 @@ -573,7 +573,7 @@ UBERON:0001290 "proximal straight tubule" 0 0 0 0 0 0 MONDO:0018781 "KID syndrome" 1 12 0 0 0 0 MONDO:0019509 "cutaneous leukocytoclastic angiitis" 1 5 0 0 0 0 MONDO:0006363 "peritoneal multicystic mesothelioma" 1 7 0 0 0 0 -MONDO:0012926 "amelogenesis imperfecta hypomaturation type 2A2" 1 6 0 0 0 1 +MONDO:0012926 "amelogenesis imperfecta hypomaturation type 2A2" 1 5 0 0 0 1 MONDO:0013765 "coronary heart disease, susceptibility to, 6" 1 1 0 0 0 1 MONDO:0007449 "dermo-odonto dysplasia" 1 8 0 0 0 0 MONDO:0042499 "benign familial neonatal-infantile seizures 1" 0 3 0 0 0 0 @@ -588,7 +588,7 @@ MONDO:0011299 "Huntington disease-like 1" 1 6 0 0 0 0 GO:0002684 "positive regulation of immune system process" 1 0 0 0 0 1 MONDO:0004162 "uterine corpus cellular leiomyoma" 1 3 0 0 0 1 NCBITaxon:33356 "Reduvioidea" 0 1 0 0 0 0 -MONDO:0011249 "torsion dystonia with onset in infancy" 1 6 0 0 0 0 +MONDO:0011249 "torsion dystonia with onset in infancy" 1 5 0 0 0 0 UBERON:0008826 "pulmonary surfactant" 0 0 0 0 0 1 ENVO:01001477 "liquid astronomical body part"@en 1 0 0 0 0 1 GO:0022603 "regulation of anatomical structure morphogenesis" 1 0 0 0 0 1 @@ -604,11 +604,11 @@ UBERON:0002512 "corpus luteum" 0 0 0 0 0 0 NCBITaxon:487 "Neisseria meningitidis" 0 1 0 0 0 0 GO:0006886 "intracellular protein transport" 1 0 0 0 0 0 MONDO:0012795 "hypophosphatemic rickets and hyperparathyroidism" 0 3 0 0 0 0 -MONDO:0001191 "hirudiniasis" 1 5 0 0 0 1 +MONDO:0001191 "hirudiniasis" 1 4 0 0 0 1 UBERON:0004014 "labium minora" 0 0 0 0 0 0 -MONDO:0012738 "long QT syndrome 11" 1 8 0 0 0 1 +MONDO:0012738 "long QT syndrome 11" 1 7 0 0 0 1 UBERON:0012248 "cervical mucosa" 0 0 0 0 0 1 -MONDO:0012737 "long QT syndrome 10" 1 9 0 0 0 1 +MONDO:0012737 "long QT syndrome 10" 1 8 0 0 0 1 MONDO:0005437 "testicular dysgenesis syndrome" 1 3 0 0 0 0 UBERON:0000033 "head" 0 0 0 0 0 0 MONDO:0032831 "pontocerebellar hypoplasia, type 13" 0 1 0 0 0 0 @@ -617,19 +617,19 @@ UBERON:0004642 "third ventricle ependyma" 0 0 0 0 0 1 MONDO:0010041 "Charlevoix-Saguenay spastic ataxia" 1 8 0 0 0 0 MONDO:0000396 "spastic cerebral palsy" 1 5 0 0 0 0 MONDO:0030507 "spermatogenic failure 61" 0 1 0 0 0 0 -MONDO:0018481 "undifferentiated carcinoma of esophagus" 1 11 0 0 0 1 +MONDO:0018481 "undifferentiated carcinoma of esophagus" 1 4 0 0 0 1 MONDO:0005742 "emphysematous cholecystitis" 1 6 0 0 0 0 MONDO:0000761 "syndrome caused by partial chromosomal deletion" 1 1 0 0 0 1 MONDO:0023002 "double discordia" 0 1 0 0 0 0 MONDO:0009446 "ichthyosis-intellectual disability-dwarfism-renal impairment syndrome" 1 5 0 0 0 0 MONDO:0003628 "pulmonary valve disorder" 1 5 0 0 0 1 -MONDO:0015358 "hereditary motor and sensory neuropathy" 1 5 0 0 0 0 +MONDO:0015358 "hereditary motor and sensory neuropathy" 1 4 0 0 0 0 MONDO:0010491 "X-linked acrogigantism due to Xq26 microduplication" 0 7 0 0 0 0 -MONDO:0016125 "infectious, fungal or parasitic myopathy" 0 2 0 0 0 1 +MONDO:0016125 "infectious, fungal or parasitic myopathy" 0 1 0 0 0 1 GO:0010894 "negative regulation of steroid biosynthetic process" 1 0 0 0 0 1 MONDO:0030974 "mitochondrial complex 2 deficiency, nuclear type 4" 0 1 0 0 0 0 MONDO:0045060 "intraductal cribriform breast adenocarcinoma" 1 3 0 0 0 1 -MONDO:0014283 "autosomal dominant nonsyndromic hearing loss 56" 1 4 0 0 0 1 +MONDO:0014283 "autosomal dominant nonsyndromic hearing loss 56" 1 3 0 0 0 1 MONDO:0014642 "candidiasis, familial, 9" 1 2 0 0 0 1 HP:0100603 "Toxemia of pregnancy" 1 4 0 0 0 0 MONDO:0006833 "lingual goiter" 1 6 0 0 0 0 @@ -637,7 +637,7 @@ MONDO:0008088 "neuropathy, with paraprotein in serum, cerebrospinal fluid and ur UBERON:0035825 "left adrenal gland cortex" 0 0 0 0 0 1 MONDO:0016657 "8p11.2 deletion syndrome" 1 5 0 0 0 1 MONDO:0032789 "intellectual developmental disorder, autosomal recessive 71" 0 1 0 0 0 0 -MONDO:0001470 "anal margin squamous cell carcinoma" 1 6 0 0 0 1 +MONDO:0001470 "anal margin squamous cell carcinoma" 1 5 0 0 0 1 CL:2000066 "cardiac ventricle fibroblast" 1 0 0 0 0 1 MONDO:0030508 "spermatogenic failure 62" 0 1 0 0 0 0 CL:0000071 "blood vessel endothelial cell" 1 0 0 0 0 1 @@ -659,16 +659,16 @@ NCBITaxon:318477 "Dracunculidae" 0 1 0 0 0 0 MONDO:0011629 "MOGS-CDG" 1 8 0 0 0 0 MONDO:0006405 "salivary gland small cell carcinoma" 1 3 0 0 0 1 CL:0000954 "small pre-B-II cell" 1 0 0 0 0 0 -MONDO:0003330 "urinary tract obstruction" 1 8 0 0 0 0 +MONDO:0003330 "urinary tract obstruction" 1 7 0 0 0 0 MONDO:0019908 "ring chromosome 15" 1 6 0 0 0 1 -MONDO:0002289 "iris disorder" 1 5 0 0 0 1 +MONDO:0002289 "iris disorder" 1 6 0 0 0 1 MONDO:0016189 "qualitative or quantitative defects of filamin C" 0 1 0 0 0 0 MONDO:0023072 "obsolete envenomization by Bothrops lanceolatus" 0 2 0 0 0 0 MONDO:0005111 "Epstein-Barr virus infection" 1 4 0 0 0 1 MONDO:0004229 "acantholytic variant squamous cell breast carcinoma" 1 4 0 0 0 0 MONDO:0012992 "pancreatic insufficiency-anemia-hyperostosis syndrome" 1 6 0 0 0 0 MONDO:0045004 "skeletal ligament disorder" 1 0 0 0 0 1 -MONDO:0013571 "acatalasia" 1 12 0 0 0 0 +MONDO:0013571 "acatalasia" 1 11 0 0 0 0 MONDO:0003408 "ovarian primitive germ cell tumor" 1 3 0 0 0 0 MONDO:0044315 "craniosynostosis 7" 1 2 0 0 0 0 MONDO:0042497 "mycotoxicosis" 1 2 0 0 0 1 @@ -693,12 +693,12 @@ MONDO:0044999 "scalp disorder" 1 2 0 0 0 1 MONDO:0011474 "progressive familial heart block type IB" 1 7 0 0 0 1 NCBITaxon:471472 "Chlamydia trachomatis 434/Bu" 0 1 0 0 0 0 MONDO:0044990 "hand disorder" 1 2 0 0 0 1 -MONDO:0004878 "female breast upper-outer quadrant cancer" 0 5 0 0 0 0 +MONDO:0004878 "female breast upper-outer quadrant cancer" 0 4 0 0 0 0 GO:0030421 "defecation" 1 0 0 0 0 0 NCIT:C7057 "Disease, Disorder or Finding" 0 0 0 0 0 0 UBERON:0011091 "skeleton of left pelvic girdle" 0 0 0 0 0 1 UBERON:0006010 "hyaloid canal" 0 0 0 0 0 0 -MONDO:0001048 "orbital granuloma" 1 6 0 0 0 0 +MONDO:0001048 "orbital granuloma" 1 5 0 0 0 0 GO:0007264 "small GTPase mediated signal transduction" 1 0 0 0 0 0 http://identifiers.org/hgnc/1385 "CABP2" 0 0 0 0 0 0 UBERON:0003843 "dental epithelium" 0 0 0 0 0 1 @@ -721,7 +721,7 @@ http://identifiers.org/hgnc/3976 "FTH1" 0 0 0 0 0 0 UBERON:0001500 "muscle of manus" 0 0 0 0 0 1 GO:0016408 "C-acyltransferase activity" 1 0 0 0 0 0 MONDO:0007482 "dyschondrosteosis-nephritis syndrome" 1 6 0 0 0 0 -MONDO:0007092 "amelogenesis imperfecta type 1B" 1 8 0 0 0 1 +MONDO:0007092 "amelogenesis imperfecta type 1B" 1 7 0 0 0 1 CHEBI:33704 "alpha-amino acid" 1 0 0 0 0 0 MONDO:0032611 "mitochondrial complex 1 deficiency, nuclear type 6" 0 1 0 0 0 1 http://identifiers.org/hgnc/30185 "CRBN" 0 0 0 0 0 0 @@ -790,7 +790,7 @@ UBERON:0000179 "haemolymphatic fluid" 0 0 0 0 0 1 MONDO:0008423 "sinus node disease and myopia" 0 5 0 0 0 0 MONDO:0023310 "obsolete hemiplegic migraine" 0 0 0 0 0 0 MONDO:0019907 "ring chromosome 13" 1 5 0 0 0 1 -MONDO:0013438 "pontocerebellar hypoplasia type 2D" 1 5 0 0 0 1 +MONDO:0013438 "pontocerebellar hypoplasia type 2D" 1 4 0 0 0 1 MONDO:0016057 "isolated encephalocele" 1 8 0 0 0 0 MONDO:0032815 "mitochondrial DNA depletion syndrome 17" 0 1 0 0 0 0 MONDO:0006453 "obsolete thymic small cell carcinoma" 1 0 0 0 0 0 @@ -804,7 +804,7 @@ MONDO:0003822 "non-invasive bladder papillary urothelial neoplasm" 1 3 0 0 0 0 UBERON:0002506 "iris epithelium" 0 0 0 0 0 1 NCBITaxon:9895 "Bovidae" 0 1 0 0 0 0 GO:0042487 "regulation of odontogenesis of dentin-containing tooth" 1 0 0 0 0 1 -MONDO:0004656 "rubella" 1 10 0 0 0 1 +MONDO:0004656 "rubella" 1 9 0 0 0 1 http://identifiers.org/hgnc/2190 "COL13A1" 0 0 0 0 0 0 MONDO:0000089 "obsolete age-related hearing impairment" 0 0 0 0 0 0 MONDO:0003716 "renal pelvis papillary urothelial carcinoma" 1 3 0 0 0 1 @@ -830,7 +830,7 @@ UBERON:0001419 "skin of limb" 0 0 0 0 0 1 GO:0015629 "actin cytoskeleton" 1 0 0 0 0 0 http://identifiers.org/hgnc/12679 "VDR" 0 0 0 0 0 0 MONDO:0020227 "obsolete systemic disease with cataract" 0 2 0 0 0 0 -MONDO:0002643 "vestibular disorder" 1 6 0 0 0 1 +MONDO:0002643 "vestibular disorder" 1 3 0 0 0 1 UBERON:0007269 "pectoral appendage musculature" 0 0 0 0 0 1 MONDO:0007368 "familial benign copper deficiency" 1 7 0 0 0 0 UBERON:0006213 "carpus cartilage element" 0 0 0 0 0 1 @@ -844,11 +844,10 @@ UBERON:0005215 "kidney interstitium" 0 0 0 0 0 1 NCBITaxon:186801 "Clostridia" 0 3 0 0 0 0 MONDO:0017393 "blepharophimosis - intellectual disability syndrome" 0 3 0 0 0 0 NCBITaxon:11036 "Venezuelan equine encephalitis virus" 0 1 0 0 0 0 -MONDO:0022109 "catatrichy" 0 3 0 0 0 0 GO:0006909 "phagocytosis" 1 0 0 0 0 0 UBERON:0006833 "lumen of trachea" 0 0 0 0 0 1 UBERON:0005686 "caecum dorsal mesentery" 0 0 0 0 0 1 -MONDO:0004169 "premenstrual tension" 1 5 0 0 0 0 +MONDO:0004169 "premenstrual tension" 1 4 0 0 0 0 http://identifiers.org/hgnc/2897 "DLC1" 0 0 0 0 0 0 UBERON:0010561 "pedal digit 5 metatarsal cartilage element" 0 0 0 0 0 1 MONDO:0010272 "obsolete syndromic X-linked intellectual disability type 10" 0 0 0 0 0 0 @@ -917,7 +916,7 @@ NCBITaxon:724 "Haemophilus" 0 2 0 0 0 0 MONDO:0100307 "adult Refsum disease due to PEX7 defect" 1 0 0 0 0 0 GO:0050906 "detection of stimulus involved in sensory perception" 1 0 0 0 0 1 MONDO:0005825 "leptospirosis" 1 19 0 0 0 1 -MONDO:0005087 "respiratory system disorder" 1 27 0 0 0 1 +MONDO:0005087 "respiratory system disorder" 1 29 0 0 0 1 MONDO:0002698 "testicular gonadoblastoma" 1 4 0 0 0 1 MONDO:0009142 "dystonia with Ringbinden" 0 3 0 0 0 0 MONDO:0030331 "Ritscher-Schinzel syndrome 4" 0 1 0 0 0 0 @@ -963,17 +962,17 @@ MONDO:0002336 "inflammatory and toxic neuropathy" 0 6 0 0 0 0 MONDO:0400005 "refeeding syndrome" 1 0 0 0 0 0 HP:0002817 "Abnormality of the upper limb" 1 1 0 0 0 0 MONDO:0011477 "tooth agenesis, selective, 3" 1 4 0 0 0 1 -MONDO:0009736 "Neu-Laxova syndrome 1" 1 7 0 0 0 1 +MONDO:0009736 "Neu-Laxova syndrome 1" 1 6 0 0 0 1 CL:0009006 "enteroendocrine cell of small intestine" 1 0 0 0 0 1 MONDO:0012709 "microphthalmia, isolated, with coloboma 5" 1 4 0 0 0 1 -MONDO:0007094 "amelogenesis imperfecta type 1A" 1 7 0 0 0 1 +MONDO:0007094 "amelogenesis imperfecta type 1A" 1 6 0 0 0 1 MONDO:0017114 "global cerebellar malformation" 0 2 0 0 0 0 MONDO:0010482 "X-linked parkinsonism-spasticity syndrome" 1 4 0 0 0 0 MONDO:0011356 "exostosis, Dupuytren subungual" 0 4 0 0 0 0 CL:1001595 "rectum glandular cell" 1 1 0 0 0 1 MONDO:0006426 "spinal cord primitive neuroectodermal tumor" 1 4 0 0 0 0 http://identifiers.org/hgnc/3374 "EPAS1" 0 0 0 0 0 0 -MONDO:0004277 "gonorrhea" 1 13 0 0 0 1 +MONDO:0004277 "gonorrhea" 1 11 0 0 0 1 UBERON:0009709 "ventral pancreas" 0 0 0 0 0 0 MONDO:0018815 "aneurysmal bone cyst" 1 7 0 0 0 0 UBERON:0013699 "strand of axillary hair" 0 0 0 0 0 1 @@ -1002,7 +1001,7 @@ GO:0022408 "negative regulation of cell-cell adhesion" 1 0 0 0 0 1 MONDO:0009605 "methemoglobinemia type 4" 1 4 0 0 0 1 http://identifiers.org/hgnc/12668 "VCY" 0 0 0 0 0 0 MONDO:0017557 "Madelung deformity, bilateral" 0 2 0 0 0 0 -MONDO:0013249 "autosomal recessive nonsyndromic hearing loss 84A" 1 5 0 0 0 1 +MONDO:0013249 "autosomal recessive nonsyndromic hearing loss 84A" 1 4 0 0 0 1 GO:1904099 "negative regulation of protein O-linked glycosylation" 1 0 0 0 0 1 FOODON:03412409 "coelenterate"@en 1 0 0 0 0 0 http://identifiers.org/hgnc/3438 "ERCC6" 0 0 0 0 0 0 @@ -1010,7 +1009,7 @@ MONDO:0013810 "COG6-CGD" 0 6 0 0 0 0 http://identifiers.org/hgnc/5948 "IGSF1" 0 0 0 0 0 0 http://identifiers.org/hgnc/10983 "SLC25A13" 0 0 0 0 0 0 UBERON:0008856 "stomach muscularis externa" 0 0 0 0 0 1 -MONDO:0001515 "corneal degeneration" 0 8 0 0 0 0 +MONDO:0001515 "corneal degeneration" 0 7 0 0 0 0 MONDO:0014869 "hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome" 0 3 0 0 0 0 http://identifiers.org/hgnc/21474 "INPP5E" 0 0 0 0 0 0 http://identifiers.org/hgnc/10985 "SLC25A15" 0 0 0 0 0 0 @@ -1029,9 +1028,9 @@ MONDO:0015346 "Jeavons syndrome" 1 5 0 0 0 0 UBERON:0007522 "striated muscle sphincter" 0 0 0 0 0 1 NCBITaxon:60516 "Dibothriocephalus latus" 0 1 0 0 0 0 MONDO:0016287 "adenoid basal carcinoma of the cervix uteri" 1 5 0 0 0 1 -MONDO:0002407 "capillary hemangioma" 1 7 0 0 0 0 +MONDO:0002407 "capillary hemangioma" 1 6 0 0 0 0 UBERON:0035083 "transverse process-bearing vertebra" 0 0 0 0 0 1 -MONDO:0005376 "membranous glomerulonephritis" 1 9 0 0 0 0 +MONDO:0005376 "membranous glomerulonephritis" 1 8 0 0 0 0 UBERON:0002077 "cortex of hair" 0 0 0 0 0 1 MONDO:0000808 "obsolete hepatoid adenocarcinoma" 0 0 0 0 0 0 CHEBI:78505 "venom" 1 0 0 0 0 0 @@ -1056,7 +1055,7 @@ MONDO:0009202 "Thakker-Donnai syndrome" 0 5 0 0 0 0 MONDO:0000457 "classical glioblastoma" 1 3 0 0 0 0 UBERON:0003441 "forelimb nerve" 0 0 0 0 0 1 MONDO:0013162 "autosomal recessive limb-girdle muscular dystrophy type 2N" 1 6 0 0 0 1 -MONDO:0002492 "acute kidney failure" 1 4 0 0 0 1 +MONDO:0002492 "acute kidney failure" 1 5 0 0 0 1 ECTO:0000931 "exposure to environmental contaminant" 1 0 0 0 0 1 http://identifiers.org/hgnc/3439 "ERCC8" 0 0 0 0 0 0 http://identifiers.org/hgnc/25532 "MTPAP" 0 0 0 0 0 0 @@ -1064,7 +1063,7 @@ GO:0051930 "regulation of sensory perception of pain" 1 0 0 0 0 1 MONDO:0005256 "moderate heart failure" 1 2 0 0 0 0 UBERON:0005322 "mesonephric nephron" 0 0 0 0 0 1 MONDO:0044300 "familial adenomatous polyposis 4" 1 2 0 0 0 0 -MONDO:0008377 "retinitis pigmentosa 1" 1 7 0 0 0 1 +MONDO:0008377 "retinitis pigmentosa 1" 1 6 0 0 0 1 UBERON:0003924 "ventral pancreatic bud" 0 0 0 0 0 0 MONDO:0005629 "Acanthamoeba keratitis" 1 11 0 0 0 1 UBERON:0002805 "right limbic lobe" 0 0 0 0 0 1 @@ -1076,13 +1075,13 @@ MONDO:0043008 "genetic multiple congenital anomalies/dysmorphic syndrome without MONDO:0017422 "adactyly of hand" 0 2 0 0 0 0 MONDO:0003163 "cauda equina intradural extramedullary astrocytoma" 0 3 0 0 0 0 http://identifiers.org/hgnc/17978 "B3GALT6" 0 0 0 0 0 0 -MONDO:0001473 "medulloadrenal hyperfunction" 0 5 0 0 0 0 +MONDO:0001473 "medulloadrenal hyperfunction" 0 4 0 0 0 0 HP:0002716 "Lymphadenopathy" 1 3 0 0 0 0 NCBITaxon:119088 "Enoplea" 0 1 0 0 0 0 MONDO:0002414 "gastric hemangioma" 1 3 0 0 0 1 HP:0011297 "Abnormal digit morphology" 1 1 0 0 0 0 GO:0048639 "positive regulation of developmental growth" 1 0 0 0 0 1 -MONDO:0014739 "autosomal recessive nonsyndromic hearing loss 97" 1 4 0 0 0 1 +MONDO:0014739 "autosomal recessive nonsyndromic hearing loss 97" 1 3 0 0 0 1 ENVO:01001781 "part of a landmass"@en 1 0 0 0 0 1 UBERON:0004463 "musculature of hindlimb stylopod" 0 0 0 0 0 1 http://identifiers.org/hgnc/10941 "SLC1A3" 0 0 0 0 0 0 @@ -1113,7 +1112,7 @@ PCO:0000001 "population of organisms"@en 1 0 0 0 0 0 PATO:0001739 "radiation quality" 1 0 0 0 0 0 http://identifiers.org/hgnc/30032 "PACS1" 0 0 0 0 0 0 GO:0044237 "cellular metabolic process" 1 0 0 0 0 0 -MONDO:0020327 "classic Hodgkin lymphoma, nodular sclerosis type" 0 2 0 0 0 0 +MONDO:0020327 "classic Hodgkin lymphoma, nodular sclerosis type" 0 1 0 0 0 0 HP:0011927 "Short digit" 1 2 0 0 0 0 MONDO:0002506 "obsolete early myoclonic encephalopathy" 0 0 0 0 0 0 MONDO:0004245 "ependymal tumor of brain" 1 4 0 0 0 1 @@ -1149,7 +1148,7 @@ http://identifiers.org/hgnc/3349 "ENG" 0 0 0 0 0 0 UBERON:0005135 "metanephric glomerular epithelium" 0 0 0 0 0 1 MONDO:0014138 "nemaline myopathy 8" 1 5 0 0 0 1 MONDO:0006832 "limited scleroderma" 1 6 0 0 0 0 -MONDO:0019473 "enteropathy-associated T-cell lymphoma" 1 11 0 0 0 0 +MONDO:0019473 "enteropathy-associated T-cell lymphoma" 1 10 0 0 0 0 MONDO:0002758 "vulva verrucous carcinoma" 1 3 0 0 0 1 MONDO:0043904 "leishmaniasis, diffuse cutaneous" 1 2 0 0 0 0 CHEBI:26375 "pterins" 0 0 0 0 0 0 @@ -1161,7 +1160,7 @@ MONDO:0020619 "obsolete blood group, langereis system" 0 1 0 0 0 0 GO:0001942 "hair follicle development" 1 0 0 0 0 0 MONDO:0009551 "magnesium, elevated red cell" 0 1 0 0 0 0 MONDO:0016960 "partial trisomy of the long arm of chromosome 9" 0 1 0 0 0 1 -MONDO:0003571 "obsolete labyrinthine dysfunction" 0 9 0 0 0 0 +MONDO:0003571 "obsolete labyrinthine dysfunction" 0 7 0 0 0 0 http://identifiers.org/hgnc/3434 "ERCC2" 0 0 0 0 0 0 UBERON:0035550 "superficial vein" 0 0 0 0 0 1 http://identifiers.org/hgnc/3435 "ERCC3" 0 0 0 0 0 0 @@ -1192,17 +1191,17 @@ UBERON:0003693 "retroperitoneal space" 0 0 0 0 0 0 MONDO:0003844 "central nervous system lipoma" 1 3 0 0 0 1 UBERON:0011973 "epiphysis of phalanx of pes" 0 0 0 0 0 1 MONDO:0021070 "sublingual gland carcinoma" 1 3 0 0 0 1 -MONDO:0004848 "ulcerative stomatitis" 1 6 0 0 0 0 +MONDO:0004848 "ulcerative stomatitis" 1 5 0 0 0 0 MONDO:0001216 "pulp degeneration" 1 6 0 0 0 0 MONDO:0005718 "Coronaviridae infectious disease" 1 2 0 0 0 1 MONDO:0020322 "acute biphenotypic leukemia" 1 12 0 0 0 0 UBERON:0001013 "adipose tissue" 0 0 0 0 0 1 MONDO:0000443 "obsolete adenylosuccinase lyase deficiency" 0 0 0 0 0 0 -MONDO:0004582 "rheumatic myocarditis" 1 9 0 0 0 1 +MONDO:0004582 "rheumatic myocarditis" 1 6 0 0 0 1 http://identifiers.org/hgnc/16999 "CLP1" 0 0 0 0 0 0 GO:0034219 "carbohydrate transmembrane transport" 1 0 0 0 0 0 MONDO:0016726 "neuronal tumor" 0 2 0 0 0 0 -MONDO:0014291 "autosomal dominant nonsyndromic hearing loss 54" 1 3 0 0 0 0 +MONDO:0014291 "autosomal dominant nonsyndromic hearing loss 54" 1 2 0 0 0 0 MONDO:0005688 "campylobacteriosis" 1 5 0 0 0 1 http://identifiers.org/hgnc/30225 "SLC52A1" 0 0 0 0 0 0 NCBITaxon:198624 "Dermocystida" 0 1 0 0 0 0 @@ -1221,7 +1220,7 @@ UBERON:0002029 "epithelium of gall bladder" 0 0 0 0 0 1 MONDO:0018731 "lethal multiple congenital anomalies/dysmorphic syndrome" 0 1 0 0 0 0 NCBITaxon:6208 "Taeniidae" 0 1 0 0 0 0 MONDO:0004073 "obsolete dentin dysplasia" 0 0 0 0 0 0 -MONDO:0012138 "muscular dystrophy-dystroglycanopathy type B6" 1 7 0 0 0 0 +MONDO:0012138 "muscular dystrophy-dystroglycanopathy type B6" 1 6 0 0 0 0 MONDO:0013793 "encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency" 0 2 0 0 0 0 MONDO:0011943 "systemic lupus erythematosus with nephritis, susceptibility to, 2" 0 1 0 0 0 0 MONDO:0006948 "retinal artery occlusion" 1 7 0 0 0 0 @@ -1272,7 +1271,8 @@ MONDO:0013491 "megalencephalic leukoencephalopathy with subcortical cysts 2B, re UBERON:0012463 "cloacal lumen" 0 0 0 0 0 1 HP:0100598 "Pulmonary edema" 1 3 0 0 0 0 CHEBI:33893 "reagent" 1 0 0 0 0 0 -MONDO:0004724 "submandibular gland cancer" 1 6 0 0 0 1 +MONDO:0004724 "submandibular gland cancer" 1 5 0 0 0 1 +MONDO:8000032 "obsolete malformation syndrome" 0 1 0 0 0 0 UBERON:0018235 "capsule of pancreas" 0 0 0 0 0 1 PO:0025496 "multi-tissue plant structure" 1 1 0 0 0 0 http://identifiers.org/hgnc/6250 "KCNH1" 0 0 0 0 0 0 @@ -1285,7 +1285,7 @@ UBERON:0000488 "atypical epithelium" 0 0 0 0 0 0 UBERON:0005207 "tonsil capsule" 0 0 0 0 0 1 MONDO:0008897 "obsolete tumoral calcinosis, hyperphosphatemic, familial, 1" 0 0 0 0 0 0 CL:0000624 "CD4-positive, alpha-beta T cell" 1 0 0 0 0 0 -MONDO:0008698 "achalasia" 1 11 0 0 0 0 +MONDO:0008698 "achalasia" 1 10 0 0 0 0 MONDO:0011135 "superior transverse scapular ligament, calcification of, familial" 0 3 0 0 0 0 UBERON:0009497 "epithelium of foregut-midgut junction" 0 0 0 0 0 1 MONDO:0021133 "acquired factor XIII deficiency" 1 2 0 0 0 1 @@ -1319,10 +1319,10 @@ MONDO:0012855 "Joubert syndrome 8" 1 5 0 0 0 1 UBERON:0013067 "colorectal mucosa" 0 0 0 0 0 1 GO:0043243 "positive regulation of protein-containing complex disassembly" 1 0 0 0 0 1 HP:0003241 "External genital hypoplasia" 1 1 0 0 0 0 -MONDO:0001455 "retinal lattice degeneration" 0 5 0 0 0 0 +MONDO:0001455 "retinal lattice degeneration" 0 4 0 0 0 0 MONDO:0021479 "benign neoplasm of oropharynx" 1 4 0 0 0 1 MONDO:0043168 "panostotic fibrous dysplasia" 0 4 0 0 0 0 -MONDO:0002776 "external ear disorder" 1 10 0 0 0 1 +MONDO:0002776 "external ear disorder" 1 8 0 0 0 1 MONDO:0014055 "epilepsy, familial adult myoclonic, 4" 0 4 0 0 0 0 MONDO:0010008 "sarcosinemia" 1 9 0 0 0 0 MONDO:0000503 "lung adenocarcinoma in situ" 1 4 0 0 0 1 @@ -1340,9 +1340,9 @@ MONDO:0021035 "alopecia-intellectual disability syndrome 1" 0 3 0 0 0 0 MONDO:0001894 "spinal cord sarcoma" 1 3 0 0 0 1 MONDO:0003469 "epithelioid cell synovial sarcoma" 1 4 0 0 0 0 HP:0002315 "Headache" 1 3 0 0 0 0 -MONDO:0006525 "allergic contact dermatitis" 1 9 0 0 0 1 +MONDO:0006525 "allergic contact dermatitis" 1 8 0 0 0 1 CHEBI:50514 "vasoconstrictor agent" 1 0 0 0 0 0 -MONDO:0004895 "accommodative esotropia" 0 5 0 0 0 0 +MONDO:0004895 "accommodative esotropia" 0 4 0 0 0 0 GO:0002381 "immunoglobulin production involved in immunoglobulin-mediated immune response" 1 0 0 0 0 1 MONDO:0017867 "distal 17p13.1 microdeletion syndrome" 1 3 0 0 0 0 GO:0015267 "channel activity" 1 0 0 0 0 0 @@ -1373,9 +1373,9 @@ MONDO:0001710 "perforation of bile duct" 1 6 0 0 0 0 ENVO:02000140 "fluid environmental material"@en 1 0 0 0 0 1 MONDO:0019116 "obsolete catecholamine-producing tumor" 1 2 0 0 0 0 UBERON:0004797 "blood vessel layer" 0 0 0 0 0 1 -MONDO:0011568 "autosomal dominant nonsyndromic hearing loss 25" 1 6 0 0 0 1 +MONDO:0011568 "autosomal dominant nonsyndromic hearing loss 25" 1 5 0 0 0 1 MONDO:0012084 "aromatic L-amino acid decarboxylase deficiency" 1 10 0 0 0 0 -MONDO:0001920 "chronic purulent otitis media" 1 6 0 0 0 1 +MONDO:0001920 "chronic purulent otitis media" 1 5 0 0 0 1 MONDO:0014789 "CCDC115-CDG" 0 3 0 0 0 0 HP:0002435 "Meningocele" 1 3 0 0 0 0 MONDO:0019337 "autoimmune bullous skin disease" 1 7 0 0 0 1 @@ -1387,8 +1387,8 @@ MONDO:0016302 "isolated congenitally uncorrected transposition of the great arte HsapDv:0000107 "13-year-old human stage" 1 0 0 0 0 0 MONDO:0000180 "obsolete inflammatory skin and bowel disease, neonatal" 0 0 0 0 0 0 UBERON:0004454 "tarsal region" 0 0 0 0 0 1 -MONDO:0012974 "autosomal dominant nonsyndromic hearing loss 59" 1 5 0 0 0 0 -MONDO:0018534 "squamous cell carcinoma of liver and intrahepatic biliary tract" 1 4 0 0 0 1 +MONDO:0012974 "autosomal dominant nonsyndromic hearing loss 59" 1 4 0 0 0 0 +MONDO:0018534 "squamous cell carcinoma of liver and intrahepatic biliary tract" 1 2 0 0 0 1 GO:1903827 "regulation of cellular protein localization" 1 0 0 0 0 1 HP:0500165 "Abnormal blood oxygen level" 1 0 0 0 0 0 MONDO:0010754 "van den Bosch syndrome" 1 6 0 0 0 0 @@ -1407,7 +1407,7 @@ CL:0002555 "fibroblast of mammary gland" 1 0 0 0 0 1 NCBITaxon:39054 "Enterovirus A71" 0 1 0 0 0 0 MONDO:0032918 "developmental and epileptic encephalopathy, 84" 0 1 0 0 0 0 MONDO:0015172 "obsolete epithelio-exfoliative colitis-deafness syndrome" 1 3 0 0 0 0 -MONDO:0015176 "undetermined colitis" 1 2 0 0 0 0 +MONDO:0015176 "undetermined colitis" 1 1 0 0 0 0 MONDO:0005024 "obsolete emphysema" 0 0 0 0 0 0 HP:0004326 "Cachexia" 1 4 0 0 0 0 MONDO:0007642 "isolated agenesis of gallbladder" 0 4 0 0 0 0 @@ -1444,6 +1444,7 @@ UBERON:0000017 "exocrine pancreas" 0 0 0 0 0 0 NCBITaxon:2560547 "La Crosse orthobunyavirus" 0 1 0 0 0 0 MONDO:0032740 "hearing loss, autosomal recessive 100" 0 2 0 0 0 0 MONDO:0006846 "malignant hypertension" 1 8 0 0 0 0 +MONDO:0020059 "obsolete gonosome number anomaly" 0 1 0 0 0 0 UBERON:0002106 "spleen" 0 0 0 0 0 0 MONDO:0032578 "cortical dysplasia, complex, with other brain malformations 9" 0 1 0 0 0 0 MONDO:0008574 "obsolete Tl antigen" 0 1 0 0 0 0 @@ -1462,14 +1463,13 @@ MONDO:0024454 "sacral nerve plexus disorder" 1 3 0 0 0 1 http://identifiers.org/hgnc/35126 "BHLHA9" 0 0 0 0 0 0 http://identifiers.org/hgnc/15946 "RP1L1" 0 0 0 0 0 0 HP:0011016 "Abnormality of urine glucose concentration" 1 1 0 0 0 0 -MONDO:0011553 "autosomal recessive nonsyndromic hearing loss 26" 1 5 0 0 0 0 +MONDO:0011553 "autosomal recessive nonsyndromic hearing loss 26" 1 4 0 0 0 0 MONDO:0014965 "lethal congenital contracture syndrome 11" 1 3 0 0 0 1 MONDO:0021460 "benign neoplasm of salivary gland" 1 3 0 0 0 1 MONDO:0021957 "autosomal recessive nonsyndromic congenital nuclear cataract" 0 4 0 0 0 0 -MONDO:0017005 "Y chromosome number anomaly" 0 1 0 0 0 0 http://identifiers.org/hgnc/5950 "IGSF3" 0 0 0 0 0 0 MONDO:0031013 "autoimmune optic neuritis" 1 1 0 0 0 1 -MONDO:0019434 "systemic-onset juvenile idiopathic arthritis" 1 8 0 0 0 0 +MONDO:0019434 "systemic-onset juvenile idiopathic arthritis" 1 7 0 0 0 0 MONDO:0013233 "spondyloepimetaphyseal dysplasia, Handigodu type" 1 4 0 0 0 0 MONDO:0012849 "Joubert syndrome 9" 1 5 0 0 0 1 http://identifiers.org/hgnc/11896 "TNFAIP3" 0 0 0 0 0 0 @@ -1529,7 +1529,7 @@ UBERON:0036654 "wall of lateral ventricle" 0 0 0 0 0 1 MONDO:0008589 "tremor of intention, ataxia, and lipofuscinosis" 0 3 0 0 0 0 http://identifiers.org/hgnc/7876 "NOS3" 0 0 0 0 0 0 UBERON:0014389 "gustatory papilla of tongue" 0 0 0 0 0 1 -MONDO:0019456 "acute myeloid leukemia with multilineage dysplasia" 1 8 0 0 0 0 +MONDO:0019456 "acute myeloid leukemia with multilineage dysplasia" 1 7 0 0 0 0 ENVO:3100011 "concentration of dioxygen in liquid water" 1 0 0 0 0 1 GO:0000781 "chromosome, telomeric region" 1 0 0 0 0 0 MONDO:0011954 "melanoma, cutaneous malignant, susceptibility to, 4" 0 2 0 0 0 0 @@ -1544,20 +1544,20 @@ GO:0007409 "axonogenesis" 1 0 0 0 0 0 MONDO:0000635 "obsolete osteoblastoma" 0 0 0 0 0 0 UBERON:0009617 "head paraxial mesoderm" 0 0 0 0 0 0 CHEBI:33485 "chalcogen oxoanion" 0 0 0 0 0 0 -MONDO:0012906 "primary ciliary dyskinesia 9" 1 5 0 0 0 1 +MONDO:0012906 "primary ciliary dyskinesia 9" 1 4 0 0 0 1 MONDO:0001146 "fourth cranial nerve palsy" 1 3 0 0 0 1 MONDO:0005782 "obsolete HELLP syndrome" 0 0 0 0 0 0 MONDO:0015652 "obsolete chromosomal anomaly with epilepsy as a major feature" 0 1 0 0 0 0 MONDO:0020324 "intravascular large B-cell lymphoma" 1 9 0 0 0 0 MONDO:0008810 "familial apolipoprotein C-II deficiency" 0 7 0 0 0 0 -MONDO:0005315 "bone fracture" 1 4 0 0 0 0 +MONDO:0005315 "bone fracture" 1 5 0 0 0 0 http://identifiers.org/hgnc/11274 "SPTB" 0 0 0 0 0 0 MONDO:0013442 "nephronophthisis 12" 1 4 0 0 0 1 MONDO:0017271 "obsolete autosomal ichthyosis syndrome with prominent hair abnormalities" 0 2 0 0 0 0 http://identifiers.org/hgnc/29569 "LIPT1" 0 0 0 0 0 0 MONDO:0003064 "inverted transitional cell papilloma" 1 4 0 0 0 1 -MONDO:0018479 "congenital adrenal hyperplasia" 1 19 0 0 0 0 -MONDO:0002567 "tracheal disorder" 1 6 0 0 0 1 +MONDO:0018479 "congenital adrenal hyperplasia" 1 16 0 0 0 0 +MONDO:0002567 "tracheal disorder" 1 5 0 0 0 1 UBERON:0010171 "strand of hair of face" 0 0 0 0 0 1 CHR:9606-chr7q "7q (Human)" 0 0 0 0 0 0 MONDO:0020426 "malposition of the coronary ostium" 1 2 0 0 0 0 @@ -1593,15 +1593,15 @@ MONDO:0017442 "congenital absence of thigh and lower leg with foot present" 0 4 UBERON:0001713 "lower eyelid" 0 0 0 0 0 0 MONDO:0003387 "urethra clear cell adenocarcinoma" 1 3 0 0 0 1 UBERON:0009503 "mesenchyme of hindgut" 0 0 0 0 0 1 -MONDO:0011630 "retinitis pigmentosa 28" 1 5 0 0 0 1 +MONDO:0011630 "retinitis pigmentosa 28" 1 4 0 0 0 1 MONDO:0000181 "microcephaly and chorioretinopathy" 0 1 0 0 0 0 MONDO:0015156 "obsolete typhus-group rickettsiosis" 0 0 0 0 0 0 MONDO:0014588 "congenital myasthenic syndrome 11" 1 4 0 0 0 1 -MONDO:0008889 "thromboangiitis obliterans" 1 12 0 0 0 0 +MONDO:0008889 "thromboangiitis obliterans" 1 11 0 0 0 0 http://identifiers.org/hgnc/8808 "PDHB" 0 0 0 0 0 0 http://identifiers.org/hgnc/16084 "LIMS2" 0 0 0 0 0 0 MONDO:0004445 "bladder papillary clear cell adenocarcinoma" 1 3 0 0 0 0 -MONDO:0007286 "cataract 30" 1 7 0 0 0 1 +MONDO:0007286 "cataract 30" 1 6 0 0 0 1 MONDO:0016566 "loiasis" 1 11 0 0 0 0 MONDO:0006037 "hydrolethalus syndrome" 1 11 0 0 0 0 HP:0100035 "Phonic tics" 1 2 0 0 0 0 @@ -1641,7 +1641,7 @@ MONDO:0003838 "obsolete malignant ACTH producing neoplasm of pituitary gland" 0 NCBITaxon:163158 "Xenopsylla" 0 1 0 0 0 0 GO:0009746 "response to hexose" 1 0 0 0 0 0 MONDO:0009683 "autosomal recessive limb-girdle muscular dystrophy type 2H" 1 9 0 0 0 1 -MONDO:0001787 "hepatic infarction" 0 5 0 0 0 0 +MONDO:0001787 "hepatic infarction" 0 4 0 0 0 0 MONDO:0002490 "breast sarcoma" 1 5 0 0 0 1 http://identifiers.org/hgnc/23734 "PTF1A" 0 0 0 0 0 0 MONDO:0017034 "secondary interstitial lung disease in childhood and adulthood" 0 2 0 0 0 0 @@ -1655,8 +1655,8 @@ MONDO:0013176 "Weill-Marchesani 4 syndrome, recessive" 0 5 0 0 0 0 MONDO:0003671 "septal myocardial infarction" 1 1 0 0 0 1 MONDO:0032834 "retinitis pigmentosa 86" 0 1 0 0 0 0 MONDO:0007816 "immune suppression" 0 2 0 0 0 0 -MONDO:0014089 "corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome" 0 6 0 0 0 0 -MONDO:0005298 "osteoporosis" 1 14 0 0 0 0 +MONDO:0014089 "corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome" 0 7 0 0 0 0 +MONDO:0005298 "osteoporosis" 1 13 0 0 0 0 UBERON:0003618 "aorta tunica media" 0 0 0 0 0 1 http://identifiers.org/hgnc/4017 "FUT6" 0 0 0 0 0 0 MONDO:0013398 "acne inversa, familial, 3" 1 2 0 0 0 1 @@ -1675,7 +1675,7 @@ http://identifiers.org/hgnc/4012 "FUT1" 0 0 0 0 0 0 UBERON:0003850 "telencephalon neural crest" 0 0 0 0 0 1 MONDO:0010471 "Cornelia de Lange syndrome 5" 0 4 0 0 0 0 CL:0000377 "tracheoblast" 0 0 0 0 0 0 -MONDO:0007424 "autosomal dominant nonsyndromic hearing loss 1" 1 5 0 0 0 1 +MONDO:0007424 "autosomal dominant nonsyndromic hearing loss 1" 1 4 0 0 0 1 http://identifiers.org/hgnc/29853 "HECW2" 0 0 0 0 0 0 NCBITaxon:6300 "Tylenchina" 0 1 0 0 0 0 MONDO:0000870 "childhood acute lymphoblastic leukemia" 1 4 0 0 0 1 @@ -1693,7 +1693,7 @@ MONDO:0018728 "obsolete rare genetic capillary malformation" 0 2 0 0 0 0 MONDO:0018609 "syndromic hereditary optic neuropathy" 1 2 0 0 0 1 MONDO:0015913 "obsolete rare thrombotic disease of hematologic origin" 0 2 0 0 0 0 UBERON:0006921 "stomach squamous epithelium" 0 0 0 0 0 1 -MONDO:0006530 "cholesteatoma" 1 11 0 0 0 0 +MONDO:0006530 "cholesteatoma" 1 9 0 0 0 0 MONDO:0025518 "obsolete aspirin allergy" 1 2 0 0 0 0 CHEBI:32594 "barium atom" 0 0 0 0 0 0 MONDO:0020121 "muscular dystrophy" 1 17 0 0 0 0 @@ -1702,7 +1702,7 @@ MONDO:0019378 "la Crosse encephalitis" 1 10 0 0 0 1 UBERON:0001985 "corneal endothelium" 0 0 0 0 0 1 MONDO:0014160 "TCR-alpha-beta-positive T-cell deficiency" 1 5 0 0 0 0 http://identifiers.org/hgnc/10602 "SCNN1G" 0 0 0 0 0 0 -MONDO:0001933 "endocrine pancreas disorder" 1 6 0 0 0 1 +MONDO:0001933 "endocrine pancreas disorder" 1 5 0 0 0 1 MONDO:0006478 "undifferentiated pancreatic carcinoma" 1 4 0 0 0 1 UBERON:0005902 "occipital region" 0 0 0 0 0 0 MONDO:0001897 "bilateral hyperactive labyrinth" 0 4 0 0 0 0 @@ -1734,7 +1734,7 @@ MONDO:0043257 "pemphigus and fogo selvagem" 0 5 0 0 0 0 MONDO:0008413 "obsolete schizophrenia" 0 0 0 0 0 0 MONDO:0044726 "psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome" 0 3 0 0 0 0 GO:0019901 "protein kinase binding" 1 0 0 0 0 0 -MONDO:0004761 "obsolete urethral diverticulum" 0 3 0 0 0 0 +MONDO:0004761 "obsolete urethral diverticulum" 0 2 0 0 0 0 CL:1001611 "cerebellar neuron" 1 2 0 0 0 1 MONDO:0009982 "retinitis pigmentosa inversa with deafness" 0 3 0 0 0 0 UBERON:0010224 "right pupil" 0 0 0 0 0 1 @@ -1746,17 +1746,17 @@ http://identifiers.org/hgnc/12731 "WAS" 0 0 0 0 0 0 MONDO:0013396 "chromosome 1p32-p31 deletion syndrome" 1 7 0 0 0 1 MONDO:0009993 "embryonal rhabdomyosarcoma" 1 15 0 0 0 0 MONDO:0100054 "idiopathic anaphylaxis" 1 1 0 0 0 1 -MONDO:0019886 "distal trisomy 13q" 1 3 0 0 0 0 +MONDO:0019886 "distal trisomy 13q" 1 2 0 0 0 0 UBERON:0011213 "root of vagus nerve" 0 0 0 0 0 1 MONDO:0032767 "paragangliomas 6" 0 1 0 0 0 0 MONDO:0009478 "combined immunodeficiency due to DOCK8 deficiency" 1 6 0 0 0 1 MONDO:0014489 "limb-girdle muscular dystrophy due to POMK deficiency" 1 4 0 0 0 0 -MONDO:0011305 "cerebral cavernous malformation 3" 1 6 0 0 0 1 +MONDO:0011305 "cerebral cavernous malformation 3" 1 5 0 0 0 1 HP:0008669 "Abnormal spermatogenesis" 1 3 0 0 0 0 CL:0000417 "endopolyploid cell" 0 0 0 0 0 0 UBERON:0001759 "vagus nerve" 0 0 0 0 0 1 MONDO:0003392 "fallopian tube germ cell tumor" 1 3 0 0 0 1 -MONDO:0004618 "diplegia of upper limb" 0 5 0 0 0 0 +MONDO:0004618 "diplegia of upper limb" 0 4 0 0 0 0 MONDO:0016480 "silver-Russell syndrome due to an imprinting defect of 11p15" 0 3 0 0 0 0 GO:0031406 "carboxylic acid binding" 1 0 0 0 0 0 MONDO:0007917 "lymphedema-cerebral arteriovenous anomaly syndrome" 1 5 0 0 0 0 @@ -1779,7 +1779,7 @@ NCBITaxon:2560194 "Orthoavulavirus" 0 1 0 0 0 0 MONDO:0043287 "superior vena cava syndrome" 1 4 0 0 0 0 MONDO:0025420 "gastroenteritis, transmissible, of swine" 1 2 0 0 0 1 MONDO:0005252 "heart failure" 1 7 0 0 0 0 -MONDO:0007027 "non-alcoholic steatohepatitis" 1 5 0 0 0 0 +MONDO:0007027 "non-alcoholic steatohepatitis" 1 4 0 0 0 0 http://identifiers.org/hgnc/177 "ACY1" 0 0 0 0 0 0 http://identifiers.org/hgnc/10545 "MSMO1" 0 0 0 0 0 0 MONDO:0002994 "pancreatic delta cell neuroendocrine tumor" 1 3 0 0 0 1 @@ -1793,12 +1793,12 @@ UBERON:0003333 "submucosa of jejunum" 0 0 0 0 0 1 MONDO:0017940 "autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation" 1 4 0 0 0 1 UBERON:0010084 "future diaphragm" 0 0 0 0 0 1 MONDO:0037105 "lung germ cell tumor" 1 2 0 0 0 1 -MONDO:0011304 "cerebral cavernous malformation 2" 1 6 0 0 0 1 +MONDO:0011304 "cerebral cavernous malformation 2" 1 5 0 0 0 1 MONDO:0014518 "platelet-type bleeding disorder 19" 1 5 0 0 0 1 CHEBI:76946 "fungal metabolite" 1 0 0 0 0 0 MONDO:0021678 "gram-negative bacterial infections" 1 3 0 0 0 0 NCBITaxon:33084 "Entamoebidae" 0 1 0 0 0 0 -MONDO:0008925 "cataract 46 juvenile-onset" 1 7 0 0 0 1 +MONDO:0008925 "cataract 46 juvenile-onset" 1 6 0 0 0 1 MONDO:0015507 "obsolete rare genetic hepatic disease" 1 2 0 0 0 0 MONDO:0002242 "coagulation protein disease" 1 5 0 0 0 0 MONDO:0004388 "obsolete testicular spermatocytic seminoma" 0 0 0 0 0 0 @@ -1826,7 +1826,7 @@ MONDO:0014951 "Sotos syndrome 3" 1 2 0 0 0 1 MONDO:0019094 "congenital Epstein-Barr virus infection" 1 4 0 0 0 0 CHEBI:24868 "organic salt" 0 0 0 0 0 0 http://identifiers.org/hgnc/4263 "GHR" 0 0 0 0 0 0 -MONDO:0002303 "central retinal vein occlusion" 1 7 0 0 0 1 +MONDO:0002303 "central retinal vein occlusion" 1 6 0 0 0 1 http://identifiers.org/hgnc/9688 "CAVIN1" 0 0 0 0 0 0 ENVO:01001147 "helium planet"@en 1 0 0 0 0 1 MONDO:0019168 "pyomyositis" 1 12 0 0 0 0 @@ -1856,7 +1856,7 @@ HP:0002970 "Genu varum" 1 3 0 0 0 0 HP:0000499 "Abnormal eyelash morphology" 1 1 0 0 0 0 MONDO:0017075 "upper thoracic spina bifida cystica" 0 1 0 0 0 0 MONDO:0008983 "chromosomal instability with tissue-specific radiosensitivity" 0 2 0 0 0 0 -MONDO:0001094 "residual stage of open angle glaucoma" 0 5 0 0 0 0 +MONDO:0001094 "residual stage of open angle glaucoma" 0 4 0 0 0 0 http://identifiers.org/hgnc/11714 "TEAD1" 0 0 0 0 0 0 CL:0000790 "immature alpha-beta T cell" 1 0 0 0 0 1 UBERON:0034713 "cranial neuron projection bundle" 0 0 0 0 0 0 @@ -1888,14 +1888,14 @@ MONDO:0016416 "diphallia" 0 5 0 0 0 0 UBERON:0010507 "layer of dura mater" 0 0 0 0 0 0 UBERON:0002363 "dura mater" 0 0 0 0 0 0 MONDO:0013890 "congenital myopathy with internal nuclei and atypical cores" 1 5 0 0 0 0 -MONDO:0017991 "Takayasu arteritis" 1 13 0 0 0 0 +MONDO:0017991 "Takayasu arteritis" 1 12 0 0 0 0 MONDO:0018973 "patterned dystrophy of the retinal pigment epithelium" 0 5 0 0 0 0 MONDO:0006859 "mucinous cystadenoma" 1 6 0 0 0 1 UBERON:0003841 "autopod joint" 0 0 0 0 0 1 MONDO:0001123 "chronic sphenoidal sinusitis" 1 6 0 0 0 1 BFO:0000003 "occurrent"@en 2 0 0 0 0 0 BFO:0000003 "occurrent" 2 0 0 0 0 0 -MONDO:0018504 "undifferentiated carcinoma of stomach" 1 14 0 0 0 1 +MONDO:0018504 "undifferentiated carcinoma of stomach" 1 6 0 0 0 1 UBERON:8410050 "anorectum" 0 0 0 0 0 1 MONDO:0013958 "obsolete monocyte and dendritic cell deficiency, autosomal recessive" 0 0 0 0 0 0 MONDO:0016425 "Hughes-Stovin syndrome" 1 4 0 0 0 0 @@ -1919,7 +1919,7 @@ MONDO:0043094 "ichthyosis, follicular" 0 2 0 0 0 0 http://identifiers.org/hgnc/6263 "KCNJ2" 0 0 0 0 0 0 UBERON:5106048 "digit 1 digitopodial skeleton" 0 0 0 0 0 1 UBERON:0011148 "submucosal gland" 0 0 0 0 0 1 -MONDO:0001006 "glaucomatous atrophy of optic disc" 0 5 0 0 0 0 +MONDO:0001006 "glaucomatous atrophy of optic disc" 0 4 0 0 0 0 CHEBI:35618 "aromatic ether" 1 0 0 0 0 0 UBERON:0012313 "1st arch maxillary ectoderm" 0 0 0 0 0 0 UBERON:0012378 "muscle layer of urinary bladder" 0 0 0 0 0 1 @@ -1935,7 +1935,7 @@ UBERON:0016435 "chest wall" 0 0 0 0 0 1 http://identifiers.org/hgnc/6338 "KIR3DL1" 0 0 0 0 0 0 MONDO:0016538 "obsolete hypotonia-cystinuria syndrome type 1" 0 0 0 0 0 0 MONDO:0018845 "focal myositis" 1 4 0 0 0 0 -MONDO:0012336 "cataract 22 multiple types" 1 8 0 0 0 1 +MONDO:0012336 "cataract 22 multiple types" 1 7 0 0 0 1 UBERON:1100000 "digestive tract junction" 0 0 0 0 0 1 NCBITaxon:5302 "Agaricomycotina" 0 1 0 0 0 0 MONDO:0017534 "postaxial polydactyly type B, bilateral" 0 3 0 0 0 0 @@ -1967,7 +1967,7 @@ MONDO:0000415 "adolescence-adult electroclinical syndrome" 1 1 0 0 0 0 UBERON:0005565 "facio-acoustic neural crest" 0 0 0 0 0 0 MONDO:0002582 "subacute leukemia" 1 5 0 0 0 0 MONDO:0033006 "Galloway-Mowat syndrome 2, X-linked" 0 4 0 0 0 0 -MONDO:0002078 "heart septal defect" 1 9 0 0 0 0 +MONDO:0002078 "heart septal defect" 1 7 0 0 0 0 MONDO:0021812 "adnexal spiradenoma/cylindroma of a sweat gland" 1 4 0 0 0 0 UBERON:0005749 "glomerular tuft" 0 0 0 0 0 0 MONDO:0019190 "juvenile polyposis of infancy" 1 4 0 0 0 1 @@ -1978,7 +1978,7 @@ ENVO:01001125 "ice"@en 1 0 0 0 0 0 CL:0019001 "tracheobronchial serous cell"@en 1 0 0 0 0 1 MONDO:0001502 "retroperitoneum carcinoma" 1 3 0 0 0 1 MONDO:0011600 "congenital myasthenic syndrome 4A" 1 4 0 0 0 0 -MONDO:0001919 "cystoid macular retinal degeneration" 0 5 0 0 0 0 +MONDO:0001919 "cystoid macular retinal degeneration" 0 4 0 0 0 0 MONDO:0034109 "congenital myopathy with reduced type 2 muscle fibers" 0 2 0 0 0 0 GO:0120025 "plasma membrane bounded cell projection" 1 0 0 0 0 1 MONDO:0020213 "stromal corneal dystrophy" 1 6 0 0 0 1 @@ -1995,14 +1995,14 @@ MONDO:0015257 "sino-auricular heart block" 0 3 0 0 0 0 MONDO:0007169 "atherosclerosis susceptibility" 0 1 0 0 0 0 MONDO:0013575 "plasma fibronectin deficiency" 0 1 0 0 0 0 MONDO:0017007 "partial deletion of the long arm of chromosome X" 0 2 0 0 0 1 -MONDO:0005886 "oral candidiasis" 1 10 0 0 0 1 +MONDO:0005886 "oral candidiasis" 1 8 0 0 0 1 http://identifiers.org/hgnc/22197 "AP5Z1" 0 0 0 0 0 0 MONDO:0010390 "ocular albinism with late-onset sensorineural deafness" 1 6 0 0 0 0 MONDO:0017722 "Sandhoff disease, juvenile form" 0 4 0 0 0 0 MONDO:0000197 "obsolete singleton-Merten syndrome" 0 0 0 0 0 0 GO:1901856 "negative regulation of cellular respiration" 1 0 0 0 0 1 MONDO:0018767 "severe primary trimethylaminuria" 1 7 0 0 0 1 -MONDO:0001020 "amblyopia" 1 8 0 0 0 0 +MONDO:0001020 "amblyopia" 1 7 0 0 0 0 MONDO:0000121 "obsolete emphysema" 0 0 0 0 0 0 UBERON:0017750 "proximal mesopodial endochondral element" 0 0 0 0 0 1 MONDO:0017444 "congenital absence of both lower leg and foot" 0 3 0 0 0 0 @@ -2015,8 +2015,8 @@ MONDO:0017119 "obsolete syndrome with microcephaly as major feature" 0 2 0 0 0 0 http://identifiers.org/hgnc/18391 "SCGB3A2" 0 0 0 0 0 0 GO:0022404 "molting cycle process" 1 0 0 0 0 0 MONDO:0003970 "gastric fundus carcinoma" 1 4 0 0 0 1 -MONDO:0002367 "kidney cancer" 1 9 0 0 0 1 -MONDO:0011296 "Meckel syndrome, type 2" 1 7 0 0 0 1 +MONDO:0002367 "kidney cancer" 1 8 0 0 0 1 +MONDO:0011296 "Meckel syndrome, type 2" 1 6 0 0 0 1 MONDO:0001091 "lipoma of colon" 1 3 0 0 0 1 CL:0000514 "smooth muscle myoblast" 1 1 0 0 0 1 MONDO:0009947 "glutathione synthetase deficiency with 5-oxoprolinuria" 0 7 0 0 0 0 @@ -2032,7 +2032,7 @@ MONDO:0011632 "amyotrophic lateral sclerosis type 21" 1 5 0 0 0 1 UBERON:0017261 "intertarsal sesamoid" 0 0 0 0 0 1 MONDO:0015561 "obsolete aleukemic mast cell leukemia" 0 0 0 0 0 0 MONDO:0016139 "qualitative or quantitative protein defects in neuromuscular diseases" 0 2 0 0 0 0 -MONDO:0013757 "congenital nongoitrous hypothryoidism 6" 1 5 0 0 0 1 +MONDO:0013757 "congenital nongoitrous hypothryoidism 6" 1 4 0 0 0 1 CL:0002153 "corneocyte" 1 2 0 0 0 0 MONDO:0011153 "hyperinsulinemic hypoglycemia, familial, 2" 1 7 0 0 0 1 http://identifiers.org/hgnc/30881 "ALG13" 0 0 0 0 0 0 @@ -2055,7 +2055,7 @@ NCBITaxon:2732525 "Pokkesviricetes" 0 1 0 0 0 0 GO:0071103 "DNA conformation change" 1 0 0 0 0 0 GO:2000035 "regulation of stem cell division" 1 0 0 0 0 1 MONDO:0011036 "porencephaly-cerebellar hypoplasia-internal malformations syndrome" 1 7 0 0 0 0 -MONDO:0015104 "porphyria cutanea tarda" 1 12 0 0 0 0 +MONDO:0015104 "porphyria cutanea tarda" 1 11 0 0 0 0 MONDO:0014590 "congenital myasthenic syndrome 18" 1 5 0 0 0 1 MONDO:0000143 "obsolete multiple mitochondrial dysfunctions syndrome" 0 0 0 0 0 0 GO:0022898 "regulation of transmembrane transporter activity" 1 0 0 0 0 1 @@ -2070,11 +2070,11 @@ MONDO:0024535 "Singleton-Merten syndrome 1" 1 3 0 0 0 1 HP:0100716 "Self-injurious behavior" 1 3 0 0 0 0 NCBITaxon:642 "Aeromonas" 0 14 0 0 0 0 MONDO:0012305 "photoparoxysmal response 3" 0 4 0 0 0 0 -MONDO:0001042 "patellar tendinitis" 1 6 0 0 0 1 +MONDO:0001042 "patellar tendinitis" 1 5 0 0 0 1 MONDO:0012304 "photoparoxysmal response 2" 0 3 0 0 0 0 NCBITaxon:2732541 "Reovirales" 0 1 0 0 0 0 MONDO:0021334 "immunoproliferative disorder" 1 4 0 0 0 0 -MONDO:0004369 "renal infectious disease" 0 4 0 0 0 0 +MONDO:0004369 "renal infectious disease" 0 3 0 0 0 0 MONDO:0000509 "non-syndromic intellectual disability" 1 2 0 0 0 1 MONDO:0007608 "desmoid tumor" 1 11 0 0 0 0 CL:2000012 "fibroblast of pedal digit skin" 1 0 0 0 0 1 @@ -2086,8 +2086,7 @@ CHEBI:76729 "EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor" 1 UBERON:0012359 "pedal digitopodium bone" 0 0 0 0 0 1 GO:0003943 "N-acetylgalactosamine-4-sulfatase activity" 1 0 0 0 0 0 ENVO:01001286 "slate dust"@en 1 0 0 0 0 1 -MONDO:0001512 "intermittent proptosis" 0 5 0 0 0 0 -MONDO:0043195 "rubinstein taybi like syndrome" 0 3 0 0 0 0 +MONDO:0001512 "intermittent proptosis" 0 4 0 0 0 0 CL:1000443 "ciliary muscle cell" 1 1 0 0 0 1 MONDO:0019126 "intractable diarrhea of infancy" 1 1 0 0 0 0 MONDO:0043096 "holoacardius amorphus" 0 3 0 0 0 0 @@ -2097,21 +2096,21 @@ MONDO:0016339 "obsolete restrictive cardiomyopathy" 0 0 0 0 0 0 UBERON:0004854 "gastrointestinal system mesentery" 0 0 0 0 0 1 MONDO:0000341 "paralytic poliomyelitis" 1 1 0 0 0 1 UBERON:0002101 "limb" 0 0 0 0 0 1 -MONDO:0005451 "eating disorder" 1 8 0 0 0 0 +MONDO:0005451 "eating disorder" 1 7 0 0 0 0 MONDO:0012950 "aneurysm, intracranial berry, 10" 0 3 0 0 0 0 NCBITaxon:34622 "Haemaphysalis" 0 1 0 0 0 0 +MONDO:0017006 "obsolete X and Y chromosomal anomaly" 0 2 0 0 0 0 CHR:9606-chr17p13.3 "17p13.3 (Human)" 0 0 0 0 0 0 -MONDO:0008625 "urate-binding globulin, decrease 1N" 0 3 0 0 0 0 MONDO:0012778 "celiac disease, susceptibility to, 9" 0 1 0 0 0 0 MONDO:0016545 "leukoencephalopathy-palmoplantar keratoderma syndrome" 1 3 0 0 0 0 MONDO:0014864 "hypermanganesemia with dystonia 2" 1 5 0 0 0 1 -MONDO:8000017 "testicular regression syndrome" 1 6 0 0 0 0 +MONDO:8000017 "testicular regression syndrome" 1 5 0 0 0 0 MONDO:0010536 "tubulin, beta" 0 1 0 0 0 0 UBERON:0000926 "mesoderm" 0 0 0 0 0 0 http://identifiers.org/hgnc/14082 "ANLN" 0 0 0 0 0 0 UBERON:0003826 "upper leg bone" 0 0 0 0 0 1 GO:0007113 "endomitotic cell cycle" 1 0 0 0 0 0 -MONDO:0004584 "maple bark strippers' lung" 0 5 0 0 0 1 +MONDO:0004584 "maple bark strippers' lung" 0 4 0 0 0 1 GO:1904731 "positive regulation of intestinal lipid absorption" 1 0 0 0 0 1 GO:0031338 "regulation of vesicle fusion" 1 0 0 0 0 1 MONDO:0015242 "obsolete aspergillosis" 0 0 0 0 0 0 @@ -2147,7 +2146,7 @@ GO:0065003 "protein-containing complex assembly" 1 0 0 0 0 0 UBERON:0006934 "sensory epithelium" 0 0 0 0 0 1 CHEBI:24527 "herbicide" 1 0 0 0 0 0 http://identifiers.org/hgnc/3331 "EMD" 0 0 0 0 0 0 -MONDO:0006794 "hypersensitivity vasculitis" 1 11 0 0 0 1 +MONDO:0006794 "hypersensitivity vasculitis" 1 9 0 0 0 1 MONDO:0020406 "complete atrioventricular canal-left heart obstruction syndrome" 0 3 0 0 0 0 MONDO:0016353 "palmoplantar keratoderma-spastic paralysis syndrome" 0 5 0 0 0 0 UBERON:0010135 "sensory circumventricular organ" 0 0 0 0 0 1 @@ -2182,14 +2181,14 @@ MONDO:0019138 "bleeding diathesis due to a collagen receptor defect" 0 4 0 0 0 0 MONDO:0023368 "Ho-Kaufman-McAlister syndrome" 1 3 0 0 0 0 GO:0044283 "small molecule biosynthetic process" 1 0 0 0 0 0 MONDO:0014448 "hyperthyroxinemia, familial dysalbuminemic" 1 5 0 0 0 0 -MONDO:0001687 "diabetic cataract" 0 5 0 0 0 0 +MONDO:0001687 "diabetic cataract" 0 4 0 0 0 0 GO:0006720 "isoprenoid metabolic process" 1 0 0 0 0 0 MONDO:0100385 "acute myeloid leukemia, t(11;19)(q23.3;p13.3)" 1 1 0 0 0 0 MONDO:0005105 "melanoma" 1 14 0 0 0 0 MONDO:0000546 "obsolete parotid gland adenoid cystic carcinoma" 0 0 0 0 0 0 CL:0002174 "follicular cell of ovary" 1 2 0 0 0 0 MONDO:0009601 "metaphyseal dysplasia without hypotrichosis" 0 5 0 0 0 0 -MONDO:0002316 "motor peripheral neuropathy" 1 6 0 0 0 0 +MONDO:0002316 "motor peripheral neuropathy" 1 5 0 0 0 0 MONDO:0018098 "autosomal dominant limb-girdle muscular dystrophy type 1E (DES)" 1 5 0 0 0 0 CL:0000080 "circulating cell" 1 0 0 0 0 1 UBERON:0014701 "extraembryonic vascular system" 0 0 0 0 0 1 @@ -2201,12 +2200,12 @@ GO:0044437 "obsolete vacuolar part" 1 0 0 0 0 0 http://identifiers.org/hgnc/27310 "FLCN" 0 0 0 0 0 0 HP:0002135 "Basal ganglia calcification" 1 1 0 0 0 0 HP:0000112 "Nephropathy" 1 4 0 0 0 0 -MONDO:0000728 "ptosis" 1 12 0 0 0 0 +MONDO:0000728 "ptosis" 1 9 0 0 0 0 GO:0030072 "peptide hormone secretion" 1 0 0 0 0 0 MONDO:0003865 "acral lentiginous melanoma" 1 8 0 0 0 0 -MONDO:0014658 "severe achondroplasia-developmental delay-acanthosis nigricans syndrome" 1 10 0 0 0 0 +MONDO:0014658 "severe achondroplasia-developmental delay-acanthosis nigricans syndrome" 1 9 0 0 0 0 MONDO:0002794 "adult medulloblastoma" 1 5 0 0 0 1 -MONDO:0017446 "apodia" 0 3 0 0 0 0 +MONDO:0017446 "apodia" 0 2 0 0 0 0 GO:0003029 "detection of hypoxic conditions in blood by carotid body chemoreceptor signaling" 1 0 0 0 0 0 MONDO:0002906 "obsolete scleroderma" 0 0 0 0 0 0 UBERON:0004984 "mucosa of seminal vesicle" 0 0 0 0 0 1 @@ -2226,7 +2225,7 @@ UBERON:0012476 "skeleton of pelvic complex" 0 0 0 0 0 1 http://identifiers.org/hgnc/8512 "OTC" 0 0 0 0 0 0 ENVO:01000277 "water ice" 1 0 0 0 0 1 GO:0045682 "regulation of epidermis development" 1 0 0 0 0 1 -MONDO:0001497 "male genital organ vascular disease" 0 5 0 0 0 0 +MONDO:0001497 "male genital organ vascular disease" 0 4 0 0 0 0 MONDO:0002986 "obsolete neuromuscular disease" 0 0 0 0 0 0 MONDO:0009726 "proteosome-associated autoinflammatory syndrome" 0 17 0 0 0 0 MONDO:0011218 "autosomal recessive congenital ichthyosis 11" 0 7 0 0 0 0 @@ -2235,7 +2234,7 @@ MONDO:0018168 "primary non-essential cutis verticis gyrata" 0 3 0 0 0 0 MONDO:0009660 "mucopolysaccharidosis type 4B" 1 9 0 0 0 1 MONDO:0016175 "cutis laxa" 1 9 0 0 0 0 UBERON:0019221 "digit 1 or 5" 0 0 0 0 0 1 -MONDO:0014050 "isolated microphthalmia 8" 1 5 0 0 0 1 +MONDO:0014050 "isolated microphthalmia 8" 1 4 0 0 0 1 MONDO:0043303 "hyperacusis" 1 4 0 0 0 0 MONDO:0016849 "obsolete Nakajo-Nishimura syndrome" 0 0 0 0 0 0 http://identifiers.org/hgnc/11098 "SMARCA2" 0 0 0 0 0 0 @@ -2248,12 +2247,13 @@ GO:0044441 "obsolete ciliary part" 1 0 0 0 0 0 GO:0008016 "regulation of heart contraction" 1 0 0 0 0 1 MONDO:0008370 "reticular dystrophy of retinal pigment epithelium" 0 5 0 0 0 0 MONDO:0002034 "cecum lymphoma" 1 3 0 0 0 1 +MONDO:0008548 "obsolete theophylline Biotransformation" 0 2 0 0 0 0 http://identifiers.org/hgnc/14374 "NLRP1" 0 0 0 0 0 0 MONDO:0700035 "monosomy chromosome 8" 1 2 0 0 0 1 http://identifiers.org/hgnc/2726 "DDIT3" 0 0 0 0 0 0 http://identifiers.org/hgnc/27089 "CARMIL2" 0 0 0 0 0 0 MONDO:0007701 "progressive familial heart block type II" 0 7 0 0 0 0 -MONDO:0007282 "cataract 29" 1 6 0 0 0 0 +MONDO:0007282 "cataract 29" 1 5 0 0 0 0 CL:0000178 "Leydig cell" 1 4 0 0 0 0 UBERON:0006210 "body-wall mesenchyme" 0 0 0 0 0 0 MONDO:0000663 "anosognosia" 1 1 0 0 0 0 @@ -2261,7 +2261,7 @@ http://identifiers.org/hgnc/24564 "C2CD3" 0 0 0 0 0 0 NCBITaxon:38946 "Paracoccidioides" 0 1 0 0 0 0 MONDO:0013108 "leukemia, acute lymphocytic, susceptibility to, 1" 0 3 0 0 0 0 MONDO:0013109 "leukemia, acute lymphocytic, susceptibility to, 2" 0 3 0 0 0 0 -MONDO:0003757 "paraplegia" 1 9 0 0 0 0 +MONDO:0003757 "paraplegia" 1 7 0 0 0 0 MONDO:0003411 "breast hemangiopericytoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/9670 "PTPRF" 0 0 0 0 0 0 MONDO:0014923 "peeling skin syndrome 5" 1 2 0 0 0 1 @@ -2286,7 +2286,7 @@ MONDO:0001218 "acute laryngopharyngitis" 1 5 0 0 0 0 MONDO:0010669 "syndactyly type 8" 1 7 0 0 0 1 GO:0010720 "positive regulation of cell development" 1 0 0 0 0 1 UBERON:0010026 "ventral part of pharyngeal pouch 3" 0 0 0 0 0 0 -MONDO:0014565 "cataract 43" 1 6 0 0 0 1 +MONDO:0014565 "cataract 43" 1 5 0 0 0 1 MONDO:0021960 "ureteritis" 1 3 0 0 0 1 MONDO:0013805 "intellectual disability, autosomal dominant 13" 1 4 0 0 0 1 MONDO:0016095 "vaginal rhabdomyosarcoma" 1 5 0 0 0 1 @@ -2303,11 +2303,11 @@ MONDO:0013416 "age related macular degeneration 8" 1 3 0 0 0 1 RO:0002310 "exposure event or process" 1 0 0 0 0 0 MONDO:0032738 "gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy" 0 1 0 0 0 0 MONDO:0018226 "infantile epileptic-dyskinetic encephalopathy" 1 3 0 0 0 0 -MONDO:0019228 "inborn disorder of histidine metabolism" 1 6 0 0 0 1 +MONDO:0019228 "inborn disorder of histidine metabolism" 1 5 0 0 0 1 CHR:9606-chr3q23 "3q23 (Human)" 0 0 0 0 0 0 UBERON:0007644 "thoracic lymph node" 0 0 0 0 0 1 MONDO:0015707 "obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies" 0 1 0 0 0 0 -MONDO:0001249 "trachoma" 1 13 0 0 0 0 +MONDO:0001249 "trachoma" 1 9 0 0 0 0 MONDO:0020552 "placental site trophoblastic tumor" 1 10 0 0 0 0 MONDO:0017238 "hemoglobinopathy Toms River" 0 3 0 0 0 0 MONDO:0010883 "pectus excavatum-macrocephaly-dysplastic nails syndrome" 1 6 0 0 0 0 @@ -2317,7 +2317,7 @@ http://identifiers.org/hgnc/15492 "ANKH" 0 0 0 0 0 0 GO:1905636 "positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding" 1 0 0 0 0 1 MONDO:0019073 "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome" 0 5 0 0 0 0 MONDO:0019158 "tropical endomyocardial fibrosis" 1 5 0 0 0 0 -MONDO:0003528 "Volkmann contracture" 1 7 0 0 0 0 +MONDO:0003528 "Volkmann contracture" 1 6 0 0 0 0 UBERON:0002068 "urachus" 0 0 0 0 0 0 MONDO:0020774 "Menke-Hennekam syndrome" 0 2 0 0 0 0 CHEBI:17295 "L-phenylalanine" 1 0 0 0 0 0 @@ -2388,13 +2388,13 @@ MONDO:0030038 "glaucoma, primary closed-angle" 0 1 0 0 0 0 MONDO:0016053 "isolated cerebellar vermis hypoplasia" 1 3 0 0 0 0 http://identifiers.org/hgnc/7708 "NDUFS2" 0 0 0 0 0 0 MONDO:0012308 "Joubert syndrome with renal defect" 1 11 0 0 0 0 -MONDO:0004794 "exposure keratitis" 0 5 0 0 0 0 +MONDO:0004794 "exposure keratitis" 0 4 0 0 0 0 MONDO:0020427 "Laubry-Pezzi syndrome" 1 4 0 0 0 0 -MONDO:0013913 "hypogonadotropic hypogonadism 11 with or without anosmia" 1 4 0 0 0 1 +MONDO:0013913 "hypogonadotropic hypogonadism 11 with or without anosmia" 1 3 0 0 0 1 http://identifiers.org/hgnc/1618 "CCT5" 0 0 0 0 0 0 http://identifiers.org/hgnc/28213 "PIGY" 0 0 0 0 0 0 MONDO:0007196 "obsolete bladder cancer" 0 0 0 0 0 0 -MONDO:0001523 "luxation of globe" 0 5 0 0 0 0 +MONDO:0001523 "luxation of globe" 0 4 0 0 0 0 MONDO:0100411 "obsolete acute myeloid leukemia, NPM1 gene mutation" 0 0 0 0 0 0 MONDO:0003586 "esophagus liposarcoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/24862 "MOGS" 0 0 0 0 0 0 @@ -2439,7 +2439,7 @@ http://identifiers.org/hgnc/9586 "PTCH2" 0 0 0 0 0 0 GO:1904775 "positive regulation of ubiquinone biosynthetic process" 1 0 0 0 0 1 GO:0010259 "multicellular organism aging" 1 0 0 0 0 0 GO:0046879 "hormone secretion" 1 0 0 0 0 0 -MONDO:0013062 "long QT syndrome 12" 1 7 0 0 0 1 +MONDO:0013062 "long QT syndrome 12" 1 6 0 0 0 1 MONDO:0007658 "obsolete spitz nevus" 1 0 0 0 0 0 MONDO:0014251 "melioidosis, susceptibility to" 0 2 0 0 0 1 CL:1001045 "kidney cortex artery cell" 0 1 0 0 0 1 @@ -2448,12 +2448,12 @@ CL:0002266 "type D cell of small intestine" 1 1 0 0 0 1 CHEBI:33670 "heteromonocyclic compound" 0 0 0 0 0 0 UBERON:0001747 "parenchyma of thyroid gland" 0 0 0 0 0 1 MONDO:0010302 "Ito hypomelanosis" 1 5 0 0 0 0 -MONDO:0004666 "metagonimiasis" 1 7 0 0 0 1 +MONDO:0004666 "metagonimiasis" 1 6 0 0 0 1 NCBITaxon:121229 "Pthiridae" 0 1 0 0 0 0 HP:0000729 "Autistic behavior" 1 3 0 0 0 0 GO:2000870 "regulation of progesterone secretion" 1 0 0 0 0 1 MONDO:0005032 "follicular thyroid adenoma" 1 8 0 0 0 1 -MONDO:0006879 "optic papillitis" 1 17 0 0 0 1 +MONDO:0006879 "optic papillitis" 1 12 0 0 0 1 MONDO:0023054 "klumpke's paralysis" 1 4 0 0 0 0 MONDO:0030535 "epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive" 0 1 0 0 0 0 CL:2000028 "cerebellum glutamatergic neuron" 1 0 0 0 0 1 @@ -2528,9 +2528,9 @@ MONDO:0010438 "paroxysmal nocturnal hemoglobinuria 1" 1 3 0 0 0 1 MONDO:0019032 "X-linked intellectual disability with isolated growth hormone deficiency" 0 4 0 0 0 0 UBERON:0016896 "periosteum of long bone" 0 0 0 0 0 1 MONDO:0010545 "Nance-Horan syndrome" 1 9 0 0 0 0 -MONDO:0004643 "myeloid leukemia" 1 14 0 0 0 0 +MONDO:0004643 "myeloid leukemia" 1 11 0 0 0 0 MONDO:0004357 "carcinoma of supraglottis" 1 4 0 0 0 1 -MONDO:0010169 "Usher syndrome type 2A" 1 8 0 0 0 1 +MONDO:0010169 "Usher syndrome type 2A" 1 7 0 0 0 1 http://identifiers.org/hgnc/4241 "GFPT1" 0 0 0 0 0 0 MONDO:0014157 "mandibular hypoplasia-deafness-progeroid syndrome" 0 5 0 0 0 0 MONDO:0032909 "mitochondrial complex 3 deficiency, nuclear type 10" 0 1 0 0 0 0 @@ -2553,6 +2553,7 @@ MONDO:0002022 "disorder of orbital region" 1 5 0 0 0 1 MONDO:0013470 "generalized epilepsy with febrile seizures plus, type 7" 1 4 0 0 0 1 MONDO:0003815 "obsolete Cronkhite-Canada syndrome" 0 0 0 0 0 0 MONDO:0000346 "Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type" 0 1 0 0 0 1 +MONDO:0008432 "obsolete ketone compounds, ability to smell" 0 1 0 0 0 0 MONDO:0001039 "tonsillitis" 1 8 0 0 0 1 MONDO:0003734 "adult central nervous system immature teratoma" 0 3 0 0 0 1 MONDO:0006513 "estrogen-receptor negative breast cancer" 1 2 0 0 0 1 @@ -2587,14 +2588,14 @@ CL:0002180 "mucous cell of stomach" 1 1 0 0 0 1 MONDO:0013064 "multiple synostoses syndrome 3" 1 4 0 0 0 1 MONDO:0016729 "mixed neuronal-glial tumor" 1 4 0 0 0 0 MONDO:0003332 "malignant struma ovarii" 1 4 0 0 0 1 -MONDO:0017373 "poliomyelitis" 1 20 0 0 0 0 +MONDO:0017373 "poliomyelitis" 1 19 0 0 0 0 MONDO:0060596 "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" 0 3 0 0 0 0 MONDO:0007577 "esophageal ring, lower" 0 5 0 0 0 0 MONDO:0000166 "encephalopathy, acute, infection-induced" 0 2 0 0 0 0 MONDO:0023297 "guttate psoriasis" 1 5 0 0 0 0 UBERON:0000164 "primitive urogenital sinus" 0 0 0 0 0 0 MONDO:0002294 "obsolete gangliocytoma" 0 0 0 0 0 0 -MONDO:0012742 "Brugada syndrome 3" 1 7 0 0 0 1 +MONDO:0012742 "Brugada syndrome 3" 1 6 0 0 0 1 MONDO:0023015 "duodenal atresia tetralogy of fallot" 0 1 0 0 0 0 http://identifiers.org/hgnc/10583 "SCN11A" 0 0 0 0 0 0 CL:0000029 "neural crest derived neuron" 0 0 0 0 0 1 @@ -2604,13 +2605,13 @@ MONDO:0000155 "triglyceride storage disease" 1 0 0 0 0 1 MONDO:0032866 "cortical dysplasia, complex, with other brain malformations 10" 0 1 0 0 0 0 PATO:0002098 "neoplastic, metastatic" 1 0 0 0 0 0 http://identifiers.org/hgnc/19869 "SCARF2" 0 0 0 0 0 0 -MONDO:0018556 "Lambert-Eaton myasthenic syndrome" 1 11 0 0 0 0 +MONDO:0018556 "Lambert-Eaton myasthenic syndrome" 1 9 0 0 0 0 UBERON:0005055 "zone of long bone" 0 0 0 0 0 1 MONDO:0010415 "myopathy, reducing body, X-linked, childhood-onset" 0 4 0 0 0 0 UBERON:0034715 "pineal tract" 0 0 0 0 0 1 MONDO:0018528 "congenital myopathy with myasthenic-like onset" 1 3 0 0 0 0 MONDO:0022716 "Chiari malformation type 4" 0 3 0 0 0 0 -MONDO:0011490 "diffuse panbronchiolitis" 1 9 0 0 0 0 +MONDO:0011490 "diffuse panbronchiolitis" 1 8 0 0 0 0 MONDO:0014343 "Desbuquois dysplasia 2" 1 4 0 0 0 1 GO:0045089 "positive regulation of innate immune response" 1 0 0 0 0 1 MONDO:0019289 "hyperpigmentation of the skin" 0 5 0 0 0 1 @@ -2626,7 +2627,7 @@ MONDO:0001893 "spinal cord melanoma" 1 3 0 0 0 1 MONDO:0012814 "diastasis recti and weakness of the linea alba" 0 3 0 0 0 0 MONDO:0003637 "clear cell-sugar-tumor of the lung" 1 3 0 0 0 0 GO:0042116 "macrophage activation" 1 0 0 0 0 0 -MONDO:0012743 "Brugada syndrome 4" 1 7 0 0 0 1 +MONDO:0012743 "Brugada syndrome 4" 1 6 0 0 0 1 MONDO:0001597 "submandibular gland disorder" 1 3 0 0 0 1 GO:0000904 "cell morphogenesis involved in differentiation" 1 0 0 0 0 1 MONDO:0009022 "corpus callosum, agenesis of" 1 5 0 0 0 0 @@ -2637,7 +2638,7 @@ NCBITaxon:1933187 "Rift Valley fever phlebovirus" 0 1 0 0 0 0 http://identifiers.org/hgnc/24669 "FIGLA" 0 0 0 0 0 0 GO:0044452 "obsolete nucleolar part" 1 0 0 0 0 0 MONDO:0004377 "pancreatic non-functioning delta cell tumor" 1 3 0 0 0 1 -MONDO:0005002 "chronic obstructive pulmonary disease" 1 9 0 0 0 1 +MONDO:0005002 "chronic obstructive pulmonary disease" 1 8 0 0 0 1 MONDO:0005926 "obsolete poliomyelitis" 0 0 0 0 0 0 MONDO:0002694 "cavernous sinus thrombosis" 1 4 0 0 0 0 MONDO:0018438 "eosinophilic gastrointestinal disease" 0 3 0 0 0 0 @@ -2673,13 +2674,13 @@ http://identifiers.org/hgnc/25763 "SMG9" 0 0 0 0 0 0 MONDO:0005488 "adolescent idiopathic scoliosis" 1 3 0 0 0 0 UBERON:0034947 "gas in respiratory system" 0 0 0 0 0 1 http://identifiers.org/hgnc/25186 "TMEM240" 0 0 0 0 0 0 -MONDO:0000755 "ectopic pregnancy" 1 11 0 0 0 0 +MONDO:0000755 "ectopic pregnancy" 1 10 0 0 0 0 UBERON:0016497 "epicondyle of humerus" 0 0 0 0 0 1 UBERON:0035041 "deep temporal artery" 0 0 0 0 0 1 UBERON:2002068 "lower hypural set" 0 0 0 0 0 0 UBERON:0001118 "lobe of thyroid gland" 0 0 0 0 0 1 MONDO:0025351 "multiple congenital anomalies-neurodevelopmental syndrome, x-linked" 0 1 0 0 0 0 -MONDO:0019259 "classic phenylketonuria" 1 4 0 0 0 0 +MONDO:0019259 "classic phenylketonuria" 1 3 0 0 0 0 MONDO:0001924 "dystrophies primarily involving the retinal pigment epithelium" 0 3 0 0 0 0 MONDO:0009919 "peroxisomal acyl-CoA oxidase deficiency" 1 9 0 0 0 0 GO:0071625 "vocalization behavior" 1 0 0 0 0 0 @@ -2694,7 +2695,7 @@ MONDO:0014270 "STT3A-CDG" 1 6 0 0 0 0 MONDO:0024318 "viral infection of central nervous system" 0 4 0 0 0 1 GO:0010647 "positive regulation of cell communication" 1 0 0 0 0 1 MONDO:0020700 "obsolete microcephaly, short stature, and impaired glucose metabolism" 0 0 0 0 0 0 -MONDO:0015131 "combined immunodeficiency" 1 17 0 0 0 0 +MONDO:0015131 "combined immunodeficiency" 1 16 0 0 0 0 HP:0002651 "Spondyloepimetaphyseal dysplasia" 0 2 0 0 0 0 HP:0033799 "Abnormal circulating sex hormone concentration" 1 0 0 0 0 0 MONDO:0004133 "pituitary gland mixed eosinophil-basophil adenoma" 1 4 0 0 0 0 @@ -2731,7 +2732,7 @@ CL:1000275 "smooth muscle cell of small intestine" 1 1 0 0 0 1 MONDO:0005435 "anti-neutrophil antibody associated vasculitis" 1 1 0 0 0 0 FOODON:03411161 "obsolete: cattle"@en 0 0 0 0 0 0 MONDO:0010776 "hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial" 0 3 0 0 0 0 -MONDO:0008772 "amelogenesis imperfecta type 2A1" 1 7 0 0 0 1 +MONDO:0008772 "amelogenesis imperfecta type 2A1" 1 6 0 0 0 1 GO:0007076 "mitotic chromosome condensation" 1 0 0 0 0 1 GO:0001701 "in utero embryonic development" 1 0 0 0 0 0 PATO:0000587 "decreased size" 1 0 0 0 0 1 @@ -2742,7 +2743,7 @@ MONDO:0009371 "3-hydroxyisobutyric aciduria" 1 8 0 0 0 0 MONDO:0032732 "hearing loss, autosomal recessive 113" 0 2 0 0 0 0 MONDO:0013090 "chromosome 19q13.11 deletion syndrome" 1 9 0 0 0 1 MONDO:0008252 "platelet adenylate cyclase activity" 0 1 0 0 0 0 -MONDO:0002969 "ciliary body cancer" 1 7 0 0 0 1 +MONDO:0002969 "ciliary body cancer" 1 6 0 0 0 1 CHR:9606-chr13q3 "13q3 (Human)" 0 0 0 0 0 0 GO:0042626 "ATPase-coupled transmembrane transporter activity" 1 0 0 0 0 1 MONDO:0012393 "congenital brain dysgenesis due to glutamine synthetase deficiency" 0 6 0 0 0 0 @@ -2751,14 +2752,14 @@ GO:0048584 "positive regulation of response to stimulus" 1 0 0 0 0 1 GO:0050864 "regulation of B cell activation" 1 0 0 0 0 1 http://identifiers.org/hgnc/7103 "MIP" 0 0 0 0 0 0 MONDO:0009492 "succinyl-CoA:3-ketoacid CoA transferase deficiency" 1 7 0 0 0 0 -MONDO:0011162 "cataract 14 multiple types" 1 9 0 0 0 1 +MONDO:0011162 "cataract 14 multiple types" 1 8 0 0 0 1 GO:0003707 "steroid hormone receptor activity" 1 0 0 0 0 0 MONDO:0002320 "congenital nervous system disorder" 1 3 0 0 0 1 MONDO:0004457 "maxillary sinus Schneiderian papilloma" 1 3 0 0 0 1 MONDO:0005001 "chronic gastritis" 1 10 0 0 0 1 MONDO:0032771 "paragangliomas 7" 0 1 0 0 0 0 MONDO:0004091 "skin basaloid carcinoma" 1 3 0 0 0 1 -MONDO:0019471 "adult T-cell leukemia/lymphoma" 1 12 0 0 0 1 +MONDO:0019471 "adult T-cell leukemia/lymphoma" 1 11 0 0 0 1 MONDO:0000114 "cerebelloparenchymal disorder" 0 0 0 0 0 0 http://identifiers.org/hgnc/12687 "VHL" 0 0 0 0 0 0 NCBITaxon:206351 "Neisseriales" 0 3 0 0 0 0 @@ -2770,9 +2771,9 @@ GO:0003331 "positive regulation of extracellular matrix constituent secretion" 1 UBERON:0007300 "pectoral appendage blood vessel" 0 0 0 0 0 1 MONDO:0100336 "infectious disease or post-infectious disorder" 1 0 0 0 0 1 MONDO:0021650 "uterine corpus neuroendocrine neoplasm" 1 2 0 0 0 1 -MONDO:0005971 "staphyloenterotoxemia" 1 9 0 0 0 0 +MONDO:0005971 "staphyloenterotoxemia" 1 8 0 0 0 0 HP:0005912 "Biliary atresia" 1 4 0 0 0 0 -MONDO:0010171 "Usher syndrome type 1C" 1 7 0 0 0 0 +MONDO:0010171 "Usher syndrome type 1C" 1 6 0 0 0 0 UBERON:0009615 "midbrain hindbrain boundary neural plate" 0 0 0 0 0 0 GO:0045907 "positive regulation of vasoconstriction" 1 0 0 0 0 1 MONDO:0016043 "isolated cleft lip" 1 14 0 0 0 1 @@ -2834,7 +2835,7 @@ MONDO:0000918 "endometritis" 1 6 0 0 0 1 UBERON:0008307 "heart endothelium" 0 0 0 0 0 1 NCBITaxon:1513 "Clostridium tetani" 0 1 0 0 0 0 MONDO:0010149 "transcobalamin II deficiency" 1 8 0 0 0 0 -MONDO:0005012 "cutaneous melanoma" 1 31 0 0 0 1 +MONDO:0005012 "cutaneous melanoma" 1 17 0 0 0 1 MONDO:0000399 "obsolete dyskinetic cerebral palsy" 0 0 0 0 0 0 http://identifiers.org/hgnc/6125 "IRS1" 0 0 0 0 0 0 MONDO:0032698 "neurodevelopmental disorder with central and peripheral motor dysfunction" 0 1 0 0 0 0 @@ -2859,7 +2860,7 @@ CHR:9606-chr15q13 "15q13 (Human)" 0 0 0 0 0 0 ECTO:7000064 "exposure to air" 1 0 0 0 0 0 MONDO:0011295 "schizophrenia 7" 1 2 0 0 0 0 NCBITaxon:5738 "Diplomonadida" 0 1 0 0 0 0 -MONDO:0011761 "autosomal dominant nonsyndromic hearing loss 21" 1 5 0 0 0 0 +MONDO:0011761 "autosomal dominant nonsyndromic hearing loss 21" 1 4 0 0 0 0 CL:0000467 "adrenocorticotropic hormone secreting cell" 1 0 0 0 0 1 http://identifiers.org/hgnc/7685 "NDUFA2" 0 0 0 0 0 0 MONDO:0010207 "woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome" 0 5 0 0 0 0 @@ -2885,7 +2886,7 @@ MONDO:0007960 "obsolete megacystis-microcolon-intestinal hypoperistalsis syndrom MONDO:0700031 "mosaic trisomy 18" 1 0 0 0 0 1 MONDO:0012835 "systemic lupus erythematosus, susceptibility to, 11" 1 1 0 0 0 1 CHR:9606-chr17q11 "17q11 (Human)" 0 0 0 0 0 0 -MONDO:0001529 "pancytopenia" 1 8 0 0 0 0 +MONDO:0001529 "pancytopenia" 1 7 0 0 0 0 MONDO:0008201 "Perry syndrome" 1 8 0 0 0 0 MONDO:0021249 "lip neoplasm" 1 2 0 0 0 1 MONDO:0100379 "acute myeloid leukemia, t(1;11)(q21;q23)" 1 1 0 0 0 0 @@ -2925,13 +2926,13 @@ MONDO:0100093 "myoclonus, familial, 1" 1 1 0 0 0 0 MONDO:0012399 "complex cortical dysplasia with other brain malformations 7" 1 8 0 0 0 1 CHEBI:29057 "keratan" 0 0 0 0 0 0 UBERON:0008974 "apocrine gland" 0 0 0 0 0 0 -MONDO:0011484 "catecholaminergic polymorphic ventricular tachycardia 1" 1 7 0 0 0 0 +MONDO:0011484 "catecholaminergic polymorphic ventricular tachycardia 1" 1 6 0 0 0 0 MONDO:0025113 "poultry disease" 1 2 0 0 0 0 -MONDO:0005988 "toxocariasis" 1 12 0 0 0 1 +MONDO:0005988 "toxocariasis" 1 11 0 0 0 1 MONDO:0009267 "Gaucher disease type III" 1 7 0 0 0 0 MONDO:0018886 "obsolete listeriosis" 0 0 0 0 0 0 MONDO:0009873 "pilodental dysplasia-refractive errors syndrome" 1 5 0 0 0 0 -MONDO:0003393 "thymus gland disorder" 1 8 0 0 0 1 +MONDO:0003393 "thymus gland disorder" 1 6 0 0 0 1 MONDO:0100140 "obsolete mild COVID-19 infection" 1 0 0 0 0 0 CL:0002589 "smooth muscle cell of the brachiocephalic vasculature" 1 0 0 0 0 1 MONDO:0013947 "young adult-onset distal hereditary motor neuropathy" 1 4 0 0 0 0 @@ -2957,7 +2958,7 @@ UBERON:0015788 "olfactory apparatus chamber" 0 0 0 0 0 0 GO:2000469 "negative regulation of peroxidase activity" 1 0 0 0 0 1 MONDO:0016591 "sporadic adult-onset ataxia of unknown etiology" 1 2 0 0 0 0 MONDO:0005343 "obsolete viral human hepatitis" 0 0 0 0 0 0 -MONDO:0043543 "iatrogenic disease" 1 4 0 0 0 1 +MONDO:0043543 "iatrogenic disease" 1 5 0 0 0 1 GO:0002762 "negative regulation of myeloid leukocyte differentiation" 1 0 0 0 0 1 http://identifiers.org/hgnc/21022 "AARS2" 0 0 0 0 0 0 MONDO:0013319 "chromosome 4Q32.1-q32.2 triplication syndrome" 0 2 0 0 0 0 @@ -2989,12 +2990,12 @@ http://identifiers.org/hgnc/4075 "GABRA1" 0 0 0 0 0 0 MONDO:0014060 "progressive retinal dystrophy due to retinol transport defect" 0 4 0 0 0 0 GO:0060456 "positive regulation of digestive system process" 1 0 0 0 0 1 MONDO:0013606 "Hermansky-Pudlak syndrome 9" 1 6 0 0 0 1 -MONDO:0019635 "idiopathic achalasia" 1 9 0 0 0 1 +MONDO:0019635 "idiopathic achalasia" 1 8 0 0 0 1 MONDO:0008694 "pseudoprogeria syndrome" 1 7 0 0 0 0 MONDO:0008198 "parietal foramina with cleidocranial dysplasia" 1 5 0 0 0 0 MONDO:0017831 "mild Canavan disease" 1 2 0 0 0 0 GO:0006023 "aminoglycan biosynthetic process" 1 0 0 0 0 0 -MONDO:0016458 "8q12 microduplication syndrome" 1 6 0 0 0 1 +MONDO:0016458 "8q12 microduplication syndrome" 1 5 0 0 0 1 MONDO:0009545 "macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance" 0 4 0 0 0 0 UBERON:0000376 "hindlimb stylopod" 0 0 0 0 0 1 UBERON:0010580 "pedal digit 1 phalanx pre-cartilage condensation" 0 0 0 0 0 1 @@ -3023,7 +3024,7 @@ MONDO:0007583 "exostoses of heel" 0 3 0 0 0 0 MONDO:0001695 "senile ectropion" 0 4 0 0 0 0 ENVO:09200013 "wetness of soil" 1 0 0 0 0 1 MONDO:0018232 "obsolete primary bone dysplasia with micromelia" 0 1 0 0 0 0 -MONDO:0007290 "cataract 5 multiple types" 1 6 0 0 0 1 +MONDO:0007290 "cataract 5 multiple types" 1 5 0 0 0 1 UBERON:0004509 "skeletal muscle tissue of trapezius" 0 0 0 0 0 1 ENVO:01000817 "biosphere"@en 1 0 0 0 0 0 UBERON:0018111 "muscle layer of rectum" 0 0 0 0 0 1 @@ -3031,9 +3032,9 @@ CHR:9606-chr5q22.2 "5q22.2 (Human)" 0 0 0 0 0 0 MONDO:0014381 "cholestasis, progressive familial intrahepatic, 4" 1 8 0 0 0 1 MONDO:0022636 "candida glabrata infection" 0 1 0 0 0 1 MONDO:0020155 "eyelid border anomaly" 0 1 0 0 0 0 -MONDO:0019885 "distal trisomy 11q" 1 4 0 0 0 0 +MONDO:0019885 "distal trisomy 11q" 1 3 0 0 0 0 MONDO:0016862 "Alagille syndrome due to a JAG1 point mutation" 0 5 0 0 0 0 -MONDO:0005810 "infectious mononucleosis" 1 10 0 0 0 0 +MONDO:0005810 "infectious mononucleosis" 1 7 0 0 0 0 MONDO:0017588 "nail tumor" 1 1 0 0 0 1 http://identifiers.org/hgnc/6155 "ITGB2" 0 0 0 0 0 0 MONDO:0004869 "pelvic varices" 1 5 0 0 0 1 @@ -3074,10 +3075,11 @@ MONDO:0010852 "chromosome 8Q12.1-q21.2 deletion syndrome" 0 4 0 0 0 1 MONDO:0021248 "nervous system neoplasm" 1 1 0 0 0 1 GO:0042593 "glucose homeostasis" 1 0 0 0 0 0 MONDO:0018930 "monosomy 21" 1 6 0 0 0 0 -MONDO:0015742 "periventricular leukomalacia" 1 12 0 0 0 0 +MONDO:0015742 "periventricular leukomalacia" 1 11 0 0 0 0 http://identifiers.org/hgnc/29515 "PLEKHG2" 0 0 0 0 0 0 -MONDO:0001711 "hepatic encephalopathy" 1 8 0 0 0 0 +MONDO:0001711 "hepatic encephalopathy" 1 7 0 0 0 0 MONDO:0021193 "neuroepithelial neoplasm" 1 3 0 0 0 1 +MONDO:0020061 "obsolete chromosome Y structural anomaly" 0 2 0 0 0 0 MONDO:0015314 "primary laryngeal lymphangioma" 1 3 0 0 0 0 MONDO:0004759 "bestiality" 0 3 0 0 0 0 UBERON:0004422 "proximal epiphysis of first metacarpal bone" 0 0 0 0 0 1 @@ -3086,7 +3088,7 @@ MONDO:0001837 "acute gonococcal salpingitis" 1 4 0 0 0 1 ECTO:4000024 "exposure to increased air pressure" 1 0 0 0 0 0 CL:0000006 "neuronal receptor cell" 0 0 0 0 0 1 CHEBI:35507 "natural product fundamental parent" 0 0 0 0 0 0 -MONDO:0009723 "Leigh syndrome" 1 14 0 0 0 0 +MONDO:0009723 "Leigh syndrome" 1 13 0 0 0 0 FOODON:00001854 "fish food product analog"@en 0 0 0 0 0 0 MONDO:0020382 "multifocal pattern dystrophy simulating fundus flavimaculatus" 1 4 0 0 0 0 http://identifiers.org/hgnc/6501 "LAMP2" 0 0 0 0 0 0 @@ -3098,7 +3100,7 @@ CHR:9606-chr2q31.1 "2q31.1 (Human)" 0 0 0 0 0 0 MONDO:0014867 "spinocerebellar ataxia 43" 1 5 0 0 0 1 MONDO:0013121 "glaucoma 3, primary congenital, C" 0 2 0 0 0 0 MONDO:0013122 "glaucoma 3, primary congenital, D" 0 4 0 0 0 0 -MONDO:0012975 "autosomal dominant nonsyndromic hearing loss 3B" 1 5 0 0 0 1 +MONDO:0012975 "autosomal dominant nonsyndromic hearing loss 3B" 1 4 0 0 0 1 MONDO:0017043 "congenital mesoblastic nephroma" 1 10 0 0 0 0 MONDO:0004156 "pancreatic mucinous cystadenocarcinoma" 1 3 0 0 0 1 MONDO:0000599 "writing disorder" 1 1 0 0 0 0 @@ -3122,9 +3124,9 @@ MONDO:0002241 "factor XIII deficiency" 1 0 0 0 0 0 HP:0007663 "Reduced visual acuity" 0 2 0 0 0 0 MONDO:0007116 "hereditary neurocutaneous angioma" 1 4 0 0 0 0 GO:0060271 "cilium assembly" 1 0 0 0 0 0 -MONDO:0017834 "secondary hypereosinophilic syndrome" 0 3 0 0 0 0 -MONDO:0002610 "purpura" 1 7 0 0 0 0 -MONDO:0010180 "autosomal recessive spondylocostal dysostosis" 1 10 0 0 0 1 +MONDO:0017834 "secondary hypereosinophilic syndrome" 0 2 0 0 0 0 +MONDO:0002610 "purpura" 1 6 0 0 0 0 +MONDO:0010180 "autosomal recessive spondylocostal dysostosis" 1 11 0 0 0 1 MONDO:0004098 "malignant melanocytic peripheral nerve sheath tumor of mediastinum" 1 3 0 0 0 1 MONDO:0018710 "megalencephaly-severe kyphoscoliosis-overgrowth syndrome" 0 2 0 0 0 0 UBERON:0003247 "epithelium of forearm" 0 0 0 0 0 1 @@ -3143,10 +3145,10 @@ UBERON:0015453 "subcutaneous lymph node" 0 0 0 0 0 1 GO:2000380 "regulation of mesoderm development" 1 0 0 0 0 1 CL:0002576 "perineural cell" 1 0 0 0 0 1 GO:0002795 "negative regulation of antimicrobial peptide secretion" 1 0 0 0 0 1 -MONDO:0002071 "supratentorial cancer" 1 4 0 0 0 0 +MONDO:0002071 "supratentorial cancer" 1 3 0 0 0 0 MONDO:0003073 "trilateral retinoblastoma" 1 3 0 0 0 0 CHEBI:47811 "penamcarboxylate" 0 0 0 0 0 0 -MONDO:0019065 "amyloidosis" 1 20 0 0 0 0 +MONDO:0019065 "amyloidosis" 1 19 0 0 0 0 NCBITaxon:66225 "Phaeoannellomyces" 0 1 0 0 0 0 FOODON:03411134 "mammal"@en 1 0 0 0 0 0 CHEBI:50905 "teratogenic agent" 1 0 0 0 0 0 @@ -3157,10 +3159,10 @@ UBERON:0004126 "trabecular layer of ventricle" 0 0 0 0 0 1 GO:0002286 "T cell activation involved in immune response" 1 0 0 0 0 1 MONDO:0032707 "turnpenny-fry syndrome" 0 1 0 0 0 0 MONDO:0011336 "familial hemophagocytic lymphohistiocytosis 4" 1 5 0 0 0 1 -MONDO:0002258 "pharyngitis" 1 10 0 0 0 1 +MONDO:0002258 "pharyngitis" 1 8 0 0 0 1 MONDO:0011212 "sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth" 0 3 0 0 0 0 http://identifiers.org/hgnc/30492 "DNAAF3" 0 0 0 0 0 0 -MONDO:0011831 "arrhythmogenic right ventricular dysplasia 8" 1 6 0 0 0 1 +MONDO:0011831 "arrhythmogenic right ventricular dysplasia 8" 1 5 0 0 0 1 http://identifiers.org/hgnc/11199 "SOX3" 0 0 0 0 0 0 MONDO:0040673 "malignant peritoneal germ cell tumor" 1 2 0 0 0 1 MONDO:0001043 "obsolete diaphragm disease" 0 0 0 0 0 0 @@ -3172,15 +3174,15 @@ UBERON:0001492 "radial nerve" 0 0 0 0 0 0 http://identifiers.org/hgnc/2210 "COL5A2" 0 0 0 0 0 0 ENVO:01000267 "atmosphere" 1 0 0 0 0 0 UBERON:0004175 "internal genitalia" 0 0 0 0 0 0 -MONDO:0006802 "inappropriate ADH syndrome" 1 10 0 0 0 0 +MONDO:0006802 "inappropriate ADH syndrome" 1 9 0 0 0 0 MONDO:0032912 "Coffin-Siris syndrome 11" 0 1 0 0 0 0 GO:1990904 "ribonucleoprotein complex" 1 0 0 0 0 0 MONDO:0012589 "Pitt-Hopkins syndrome" 1 10 0 0 0 0 MONDO:0011337 "familial hemophagocytic lymphohistiocytosis 2" 1 5 0 0 0 1 CHEBI:134179 "volatile organic compound" 1 0 0 0 0 0 http://identifiers.org/hgnc/9685 "PTPRZ1" 0 0 0 0 0 0 -MONDO:0005138 "lung carcinoma" 1 7 0 0 0 1 -MONDO:0002474 "primary hyperoxaluria" 1 14 0 0 0 0 +MONDO:0005138 "lung carcinoma" 1 6 0 0 0 1 +MONDO:0002474 "primary hyperoxaluria" 1 13 0 0 0 0 UBERON:0008895 "splanchnocranium" 0 0 0 0 0 0 MONDO:0000252 "inflammatory diarrhea" 1 2 0 0 0 1 UBERON:0017649 "dorsal body wall" 0 0 0 0 0 1 @@ -3188,7 +3190,7 @@ MONDO:0010479 "Charcot-Marie-Tooth disease X-linked dominant 6" 1 7 0 0 0 0 MONDO:0018370 "KLHL9-related early-onset distal myopathy" 1 3 0 0 0 0 MONDO:0009938 "pulmonic stenosis" 0 5 0 0 0 0 GO:0071902 "positive regulation of protein serine/threonine kinase activity" 1 0 0 0 0 1 -MONDO:0019376 "West-Nile encephalitis" 1 10 0 0 0 1 +MONDO:0019376 "West-Nile encephalitis" 1 9 0 0 0 1 UBERON:0014487 "distal phalanx of digit 5" 0 0 0 0 0 1 MONDO:0044738 "Gabriele de Vries syndrome" 0 3 0 0 0 0 UBERON:0002008 "cardiac nerve plexus" 0 0 0 0 0 1 @@ -3210,6 +3212,7 @@ http://identifiers.org/hgnc/26927 "FOXRED1" 0 0 0 0 0 0 MONDO:0009234 "congenital high-molecular-weight kininogen deficiency" 1 9 0 0 0 0 MONDO:0060704 "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" 0 2 0 0 0 0 UBERON:0011779 "nerve of head region" 0 0 0 0 0 1 +MONDO:8000023 "type 3 autoimmune lymphoproliferative syndrome" 1 2 0 0 0 0 UBERON:0002407 "pericardium" 0 0 0 0 0 0 MONDO:0014260 "immunodeficiency, common variable, 10" 1 4 0 0 0 1 MONDO:0015166 "acute myeloid leukemia with t(8;21)(q22;q22) translocation" 0 2 0 0 0 0 @@ -3217,13 +3220,13 @@ UBERON:0003551 "midbrain pia mater" 0 0 0 0 0 1 NCBITaxon:29120 "Oligoryzomys" 0 1 0 0 0 0 MONDO:0030066 "granulomatous disease, chronic, autosomal recessive, 5" 0 1 0 0 0 0 MONDO:0016722 "pineoblastoma" 1 10 0 0 0 0 -MONDO:0013926 "hypogonadotropic hypogonadism 14 with or without anosmia" 1 4 0 0 0 1 +MONDO:0013926 "hypogonadotropic hypogonadism 14 with or without anosmia" 1 3 0 0 0 1 MONDO:0032582 "nephrotic syndrome, type 19" 0 2 0 0 0 0 MONDO:0015594 "non-paraneoplastic limbic encephalitis" 0 1 0 0 0 0 HP:0009145 "Abnormal cerebral artery morphology" 1 1 0 0 0 0 MONDO:0011111 "horns in sheep" 0 1 0 0 0 0 GO:0050769 "positive regulation of neurogenesis" 1 0 0 0 0 1 -MONDO:0009439 "autosomal recessive congenital ichthyosis 2" 1 8 0 0 0 0 +MONDO:0009439 "autosomal recessive congenital ichthyosis 2" 1 7 0 0 0 0 MONDO:0024643 "myocardial disorder" 1 2 0 0 0 1 MONDO:0017265 "autosomal recessive congenital ichthyosis" 1 4 0 0 0 1 MONDO:0021372 "neoplasm of temporal lobe" 1 3 0 0 0 1 @@ -3235,7 +3238,7 @@ NCBITaxon:10243 "Cowpox virus" 0 1 0 0 0 0 MONDO:0016805 "isolated oxidative phosphorylation complex disorder" 0 2 0 0 0 0 MONDO:0016023 "obsolete ocular coloboma" 0 0 0 0 0 0 CHR:9606-chr1p3 "1p3 (Human)" 0 0 0 0 0 0 -MONDO:0004922 "developmental coordination disorder" 1 7 0 0 0 0 +MONDO:0004922 "developmental coordination disorder" 1 6 0 0 0 0 http://identifiers.org/hgnc/24861 "G6PC3" 0 0 0 0 0 0 MONDO:0006483 "urothelial dysplasia" 1 3 0 0 0 0 UBERON:0000466 "immaterial anatomical entity" 0 0 0 0 0 0 @@ -3245,7 +3248,7 @@ MONDO:0014076 "dyskeratosis congenita, autosomal recessive 5" 1 5 0 0 0 1 MONDO:0054847 "epilepsy, familial adult myoclonic, 7" 0 3 0 0 0 0 CHEBI:38632 "membrane transport modulator" 1 0 0 0 0 0 MONDO:0021809 "primary dysautonomia" 1 1 0 0 0 0 -MONDO:0003647 "atrophic flaccid tympanic membrane" 0 5 0 0 0 0 +MONDO:0003647 "atrophic flaccid tympanic membrane" 0 4 0 0 0 0 CL:0002178 "epithelial cell of stomach" 1 1 0 0 0 1 UBERON:0011234 "fibrous membrane of synovial tendon sheath" 0 0 0 0 0 1 MONDO:0001780 "premature ejaculation" 1 6 0 0 0 0 @@ -3260,14 +3263,14 @@ UBERON:0007647 "ectomeninx" 0 0 0 0 0 1 MONDO:0018791 "Moyomoya angiopathy" 0 1 0 0 0 0 MONDO:0002536 "skin papilloma" 1 4 0 0 0 1 MONDO:0009659 "mucopolysaccharidosis type 4A" 1 8 0 0 0 1 -MONDO:0017987 "syringomyelia" 1 11 0 0 0 0 +MONDO:0017987 "syringomyelia" 1 9 0 0 0 0 CHR:9606-chr6pter-p24 "6pter-p24 (Human)" 0 0 0 0 0 0 -MONDO:0011767 "autosomal recessive nonsyndromic hearing loss 31" 1 5 0 0 0 1 +MONDO:0011767 "autosomal recessive nonsyndromic hearing loss 31" 1 4 0 0 0 1 MONDO:0030700 "autoimmune glomerulonephritis" 1 1 0 0 0 1 MONDO:0004727 "vestibule of mouth cancer" 1 5 0 0 0 1 MONDO:0005003 "chronic pancreatitis" 1 8 0 0 0 1 MONDO:0009522 "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome" 1 7 0 0 0 0 -MONDO:0005066 "metabolic disease" 1 10 0 0 0 1 +MONDO:0005066 "metabolic disease" 1 12 0 0 0 1 MONDO:0019824 "non-acquired pituitary hormone deficiency" 0 2 0 0 0 0 GO:0034399 "nuclear periphery" 1 0 0 0 0 0 MONDO:0007037 "achondroplasia" 1 10 0 0 0 0 @@ -3291,7 +3294,7 @@ UBERON:0003952 "anterior stroma of cornea" 0 0 0 0 0 1 MONDO:0009799 "obsolete pachydermoperiostosis" 0 0 0 0 0 0 MONDO:0003211 "nasal cavity adenocarcinoma" 1 3 0 0 0 1 MONDO:0020037 "obsolete rare gynecological tumor" 1 2 0 0 0 0 -MONDO:0010503 "Bartter disease type 5" 1 4 0 0 0 1 +MONDO:0010503 "Bartter disease type 5" 1 3 0 0 0 1 MONDO:0017012 "partial duplication of the short arm of chromosome 1" 0 1 0 0 0 1 MONDO:0100014 "autoimmune retinopathy" 1 3 0 0 0 1 MONDO:0043373 "sudden sensorineural hearing loss" 1 5 0 0 0 1 @@ -3305,9 +3308,9 @@ MONDO:0012636 "restless legs syndrome, susceptibility to, 6" 0 2 0 0 0 0 MONDO:0018640 "secondary vasculitis" 0 1 0 0 0 0 MONDO:0024309 "neuropathy, hereditary sensory and autonomic, type 2A" 1 3 0 0 0 0 GO:0070914 "UV-damage excision repair" 1 0 0 0 0 0 -MONDO:0005133 "endometriosis" 1 11 0 0 0 0 +MONDO:0005133 "endometriosis" 1 10 0 0 0 0 http://identifiers.org/hgnc/24054 "KNL1" 0 0 0 0 0 0 -MONDO:0001179 "pinguecula" 1 7 0 0 0 0 +MONDO:0001179 "pinguecula" 1 6 0 0 0 0 MONDO:0020607 "Liddle syndrome 1" 1 1 0 0 0 1 MONDO:0012312 "short QT syndrome type 1" 1 3 0 0 0 1 MONDO:0012313 "short QT syndrome type 2" 1 3 0 0 0 1 @@ -3316,11 +3319,11 @@ MONDO:0009033 "temtamy syndrome" 1 9 0 0 0 0 GO:0047708 "biotinidase activity" 1 0 0 0 0 0 MONDO:0014665 "Charcot-Marie-Tooth disease axonal type 2V" 1 5 0 0 0 1 MONDO:0003566 "obsolete choroid plexus carcinoma" 0 0 0 0 0 0 -MONDO:0009662 "mucopolysaccharidosis type 7" 1 11 0 0 0 1 +MONDO:0009662 "mucopolysaccharidosis type 7" 1 10 0 0 0 1 UBERON:0008989 "submucosal esophageal gland" 0 0 0 0 0 1 CL:1000331 "serous cell of epithelium of bronchus" 1 1 0 0 0 1 CHEBI:15022 "electron donor" 1 0 0 0 0 0 -MONDO:0012197 "idiopathic aplastic anemia" 1 11 0 0 0 0 +MONDO:0012197 "idiopathic aplastic anemia" 1 10 0 0 0 0 MONDO:0005092 "signet ring cell carcinoma" 1 6 0 0 0 0 MONDO:0014274 "L-ferritin deficiency" 0 3 0 0 0 0 MONDO:0024527 "glomerulopathy with fibronectin deposits 1" 0 2 0 0 0 0 @@ -3335,7 +3338,7 @@ MONDO:0100305 "bile acid CoA:amino acid N-acyltransferase deficiency" 1 0 0 0 0 MONDO:0003304 "plexiform neurofibroma" 1 9 0 0 0 0 MONDO:0017612 "junctional epidermolysis bullosa" 1 8 0 0 0 0 GO:0010453 "regulation of cell fate commitment" 1 0 0 0 0 1 -MONDO:0005538 "proctitis" 1 8 0 0 0 1 +MONDO:0005538 "proctitis" 1 7 0 0 0 1 MONDO:0017839 "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form" 1 2 0 0 0 0 MONDO:0012676 "autosomal recessive osteopetrosis 4" 1 5 0 0 0 1 MONDO:0044001 "hearing loss, mixed conductive-sensorineural" 1 5 0 0 0 0 @@ -3358,6 +3361,7 @@ FOODON:03420122 "nonmeat part of animal"@en 1 0 0 0 0 0 GO:0140237 "translation at presynapse, modulating chemical synaptic transmission" 1 0 0 0 0 1 MONDO:0009625 "diencephalic-mesencephalic junction dysplasia syndrome 1" 0 4 0 0 0 0 MONDO:0020667 "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis" 0 1 0 0 0 1 +MONDO:0007591 "obsolete facial hypertrichosis" 0 3 0 0 0 0 UBERON:0006072 "cervical region of vertebral column" 0 0 0 0 0 1 MONDO:0007329 "cirrhosis, familial" 1 4 0 0 0 1 UBERON:0035307 "branch of vertebral artery" 0 0 0 0 0 1 @@ -3365,7 +3369,7 @@ GO:0093001 "glycolysis from storage polysaccharide through glucose-1-phosphate" MONDO:0000858 "neuronal intestinal dysplasia" 0 6 0 0 0 0 MONDO:0032572 "cardiac, facial, and digital anomalies with developmental delay" 0 1 0 0 0 0 MONDO:0028618 "gastroenteric neuroendocrine neoplasm" 0 1 0 0 0 0 -MONDO:0001242 "disseminated intravascular coagulation in newborn" 1 6 0 0 0 0 +MONDO:0001242 "disseminated intravascular coagulation in newborn" 1 5 0 0 0 0 MONDO:0016255 "uterine corpus mixed epithelial and mesenchymal neoplasm" 1 8 0 0 0 1 GO:0042762 "regulation of sulfur metabolic process" 1 0 0 0 0 1 http://identifiers.org/hgnc/29521 "C12orf57" 0 0 0 0 0 0 @@ -3383,14 +3387,14 @@ HP:0004357 "Abnormal circulating leucine concentration" 1 1 0 0 0 0 CL:0010003 "epithelial cell of alveolus of lung" 1 0 0 0 0 1 MONDO:0001394 "chronic erythremia" 0 2 0 0 0 0 UBERON:0004533 "left testis" 0 0 0 0 0 1 -MONDO:0012736 "long QT syndrome 9" 1 7 0 0 0 1 +MONDO:0012736 "long QT syndrome 9" 1 6 0 0 0 1 NCBITaxon:10245 "Vaccinia virus" 0 1 0 0 0 0 UBERON:0005971 "amniotic fold" 0 0 0 0 0 0 MONDO:0021210 "trachea neoplasm" 1 7 0 0 0 1 MONDO:0004899 "monofixation syndrome" 0 5 0 0 0 0 CL:0002556 "fibroblast of periodontium" 1 0 0 0 0 1 GO:0005886 "plasma membrane" 1 0 0 0 0 0 -MONDO:0019754 "multicentric Castleman disease" 1 9 0 0 0 0 +MONDO:0019754 "multicentric Castleman disease" 1 8 0 0 0 0 CHEBI:33708 "amino-acid residue" 1 0 0 0 0 0 UBERON:0012356 "pedal acropodium region" 0 0 0 0 0 1 MONDO:0018568 "obsolete COG2-CDG" 0 0 0 0 0 0 @@ -3404,7 +3408,7 @@ MONDO:0013736 "myopathy, centronuclear, 3" 1 3 0 0 0 1 MONDO:0022380 "acute lymphoblastic leukemia congenital sporadic aniridia" 1 1 0 0 0 0 UBERON:0003123 "pharyngeal arch artery 6" 0 0 0 0 0 1 MONDO:0013716 "aortic aneurysm, familial abdominal, 4" 0 3 0 0 0 0 -MONDO:0018747 "acquired epidermolysis bullosa" 1 12 0 0 0 1 +MONDO:0018747 "acquired epidermolysis bullosa" 1 11 0 0 0 1 http://identifiers.org/hgnc/3151 "ECHS1" 0 0 0 0 0 0 MONDO:0004345 "childhood malignant schwannoma" 1 3 0 0 0 0 UBERON:0003121 "pharyngeal arch artery 4" 0 0 0 0 0 1 @@ -3422,17 +3426,17 @@ http://identifiers.org/hgnc/9142 "PRRX1" 0 0 0 0 0 0 MONDO:0100361 "lip herpes simplex type 1 infectious disorder" 1 0 0 0 0 1 GO:1903727 "positive regulation of phospholipid metabolic process" 1 0 0 0 0 1 MONDO:0009661 "mucopolysaccharidosis type 6" 1 10 0 0 0 1 -MONDO:0035375 "multisystem inflammatory syndrome in children and adults" 0 2 0 0 0 0 +MONDO:0035375 "multisystem inflammatory syndrome in children and adults" 0 1 0 0 0 0 MONDO:0008617 "inflammatory bowel disease 11" 1 4 0 0 0 0 UBERON:0004645 "urinary bladder urothelium" 0 0 0 0 0 1 UBERON:0001633 "basilar artery" 0 0 0 0 0 0 MONDO:0017204 "toxic maculopathy due to antimalarial drugs" 1 5 0 0 0 0 MONDO:0044628 "six2-related frontonasal dysplasia" 0 1 0 0 0 0 MONDO:0017182 "familial hyperinsulinism" 1 3 0 0 0 1 -MONDO:0005700 "chickenpox" 1 10 0 0 0 0 +MONDO:0005700 "chickenpox" 1 8 0 0 0 0 UBERON:0002091 "appendicular skeleton" 0 0 0 0 0 0 GO:0034766 "negative regulation of ion transmembrane transport" 1 0 0 0 0 1 -MONDO:0019479 "histiocytic sarcoma" 1 10 0 0 0 0 +MONDO:0019479 "histiocytic sarcoma" 1 9 0 0 0 0 UBERON:0004829 "urethra skeletal muscle tissue" 0 0 0 0 0 1 MONDO:0020708 "brachial amyotrophic diplegia" 1 1 0 0 0 0 GO:0032787 "monocarboxylic acid metabolic process" 1 0 0 0 0 0 @@ -3451,14 +3455,14 @@ HP:0002164 "Nail dysplasia" 1 1 0 0 0 0 MONDO:0008293 "porokeratosis 3, disseminated superficial actinic type" 0 4 0 0 0 0 MONDO:0014661 "epidermolysis bullosa simplex with nail dystrophy" 0 2 0 0 0 0 UBERON:0035838 "esophagogastric junction mucosa" 0 0 0 0 0 1 -MONDO:0009052 "cutis laxa, autosomal recessive, type 1A" 1 7 0 0 0 1 +MONDO:0009052 "cutis laxa, autosomal recessive, type 1A" 1 6 0 0 0 1 MONDO:0010100 "Tay-Sachs disease" 1 12 0 0 0 0 MONDO:0100353 "HHV-7 infectious disease" 1 0 0 0 0 1 UBERON:0002343 "abdomen musculature" 0 0 0 0 0 1 MONDO:0003318 "mixed cell type kidney Wilms' tumor" 1 3 0 0 0 0 MONDO:0003660 "adult lymphoma" 1 3 0 0 0 1 MONDO:0011342 "SLC35A1-CDG" 1 8 0 0 0 0 -MONDO:0004170 "nodular episcleritis" 0 5 0 0 0 0 +MONDO:0004170 "nodular episcleritis" 0 4 0 0 0 0 MONDO:0016813 "obsolete microsporidiosis" 0 0 0 0 0 0 MONDO:0002322 "angiodysplasia" 1 5 0 0 0 0 UBERON:0004517 "smooth muscle tissue of respiratory bronchiole" 0 0 0 0 0 1 @@ -3499,7 +3503,7 @@ MONDO:0004119 "obsolete endometrial small cell carcinoma" 0 0 0 0 0 0 GO:1903941 "negative regulation of respiratory gaseous exchange" 1 0 0 0 0 1 MONDO:0020083 "immunodeficiency-associated lymphoproliferative disease" 0 3 0 0 0 0 MONDO:0023807 "obsolete midphalangeal hair" 0 3 0 0 0 0 -MONDO:0020487 "Pontiac fever" 1 8 0 0 0 0 +MONDO:0020487 "Pontiac fever" 1 7 0 0 0 0 MONDO:0030926 "spermatogenic failure 51" 0 1 0 0 0 0 CL:0002303 "pigmented ciliary epithelial cell" 1 1 0 0 0 0 http://identifiers.org/hgnc/17866 "HAVCR1" 0 0 0 0 0 0 @@ -3509,7 +3513,7 @@ http://identifiers.org/hgnc/20862 "SLC39A8" 0 0 0 0 0 0 MONDO:0019701 "chondrodysplasia punctata" 1 10 0 0 0 0 UBERON:0000985 "axillary vein" 0 0 0 0 0 1 http://identifiers.org/hgnc/4220 "GDF5" 0 0 0 0 0 0 -MONDO:0001228 "conjunctival folliculosis" 0 5 0 0 0 0 +MONDO:0001228 "conjunctival folliculosis" 0 4 0 0 0 0 http://identifiers.org/hgnc/25568 "FANCI" 0 0 0 0 0 0 MONDO:0004590 "obsolete fundus dystrophy" 0 0 0 0 0 0 MONDO:0010745 "beta-thalassemia-X-linked thrombocytopenia syndrome" 1 8 0 0 0 0 @@ -3527,7 +3531,7 @@ NCBITaxon:426437 "Rhipicephalinae" 0 1 0 0 0 0 MONDO:0003776 "renal pelvis inverted papilloma" 1 3 0 0 0 1 MONDO:0009504 "mitochondrial DNA depletion syndrome 9" 1 8 0 0 0 1 MONDO:0006192 "endometrial endometrioid adenocarcinoma" 1 4 0 0 0 0 -MONDO:0020502 "yellow fever" 1 15 0 0 0 1 +MONDO:0020502 "yellow fever" 1 14 0 0 0 1 MONDO:0020126 "obsolete rare peripheral neuropathy" 1 1 0 0 0 0 MONDO:0019220 "inborn disorder of cobalamin metabolism and transport" 0 3 0 0 0 0 UBERON:0000362 "renal medulla" 0 0 0 0 0 1 @@ -3544,13 +3548,13 @@ GO:0044431 "obsolete Golgi apparatus part" 1 0 0 0 0 0 MONDO:0021205 "disorder of ear" 1 5 0 0 0 1 UBERON:0006238 "future brain" 0 0 0 0 0 0 MONDO:0007818 "Hyper-IgE recurrent infection syndrome 1" 1 12 0 0 0 1 -MONDO:0006786 "hepatic vein thrombosis" 1 7 0 0 0 0 +MONDO:0006786 "hepatic vein thrombosis" 1 6 0 0 0 0 UBERON:0010411 "retroperitoneal fat pad" 0 0 0 0 0 1 MONDO:0017121 "obsolete syndrome with a Dandy-Walker malformation as major feature" 0 2 0 0 0 0 MONDO:0001435 "bullous retinoschisis" 0 4 0 0 0 0 MONDO:0018042 "obsolete immunodeficiency syndrome with abnormal pigmentation" 0 2 0 0 0 0 MONDO:0009758 "congenital stationary night blindness 1B" 1 3 0 0 0 1 -MONDO:0005813 "interdigitating dendritic cell sarcoma" 1 9 0 0 0 0 +MONDO:0005813 "interdigitating dendritic cell sarcoma" 1 8 0 0 0 0 MONDO:0019758 "midline interhemispheric variant of holoprosencephaly" 1 6 0 0 0 0 MONDO:0017286 "tempi syndrome" 1 5 0 0 0 0 http://identifiers.org/hgnc/15954 "TOE1" 0 0 0 0 0 0 @@ -3564,7 +3568,7 @@ MONDO:0000432 "lymphoplasmacytic lymphoma" 1 14 0 0 0 0 MONDO:0002803 "intestinal pseudo-obstruction" 1 7 0 0 0 0 GO:0051336 "regulation of hydrolase activity" 1 0 0 0 0 1 MONDO:0007185 "Banki syndrome" 1 7 0 0 0 0 -MONDO:0004126 "thyroiditis" 1 10 0 0 0 1 +MONDO:0004126 "thyroiditis" 1 8 0 0 0 1 MONDO:0002245 "blood platelet disease" 1 3 0 0 0 1 CHEBI:83821 "amino acid derivative" 1 0 0 0 0 0 MONDO:0021373 "neoplasm of parietal lobe" 1 3 0 0 0 1 @@ -3599,7 +3603,7 @@ ENVO:00010483 "environmental material" 1 0 0 0 0 0 UBERON:0005899 "pes bone" 0 0 0 0 0 1 MONDO:0010181 "oculogastrointestinal muscular dystrophy" 1 5 0 0 0 0 ENVO:00002016 "sedimentary rock" 1 0 0 0 0 0 -MONDO:0018969 "craniorachischisis" 1 9 0 0 0 0 +MONDO:0018969 "craniorachischisis" 1 8 0 0 0 0 MONDO:0021104 "alcoholic fatty liver disease" 1 5 0 0 0 1 http://identifiers.org/hgnc/7376 "MSR1" 0 0 0 0 0 0 NBO:0000185 "declarative memory" 1 0 0 0 0 0 @@ -3609,37 +3613,37 @@ MONDO:0013448 "generalized epilepsy with febrile seizures plus, type 8" 0 4 0 0 UBERON:0002434 "pituitary stalk" 0 0 0 0 0 0 MONDO:0010122 "congenital thrombotic thrombocytopenic purpura" 1 8 0 0 0 1 MONDO:0004193 "pediatric ovarian dysgerminoma" 1 3 0 0 0 1 -MONDO:0012333 "autosomal recessive nonsyndromic hearing loss 53" 1 5 0 0 0 1 +MONDO:0012333 "autosomal recessive nonsyndromic hearing loss 53" 1 4 0 0 0 1 CHEBI:32786 "tyrosinium" 1 0 0 0 0 0 MONDO:0000619 "obsolete triple-receptor negative breast cancer" 0 0 0 0 0 0 MONDO:0007567 "obsolete Epstein-Barr virus insertion site 1" 0 1 0 0 0 0 MONDO:0011285 "age related macular degeneration 1" 1 4 0 0 0 0 -MONDO:0007283 "cataract 42" 1 5 0 0 0 1 +MONDO:0007283 "cataract 42" 1 4 0 0 0 1 GO:0009725 "response to hormone" 1 0 0 0 0 0 GO:0032218 "riboflavin transport" 1 0 0 0 0 0 NCBITaxon:404429 "Echinostomatoidea" 0 1 0 0 0 0 MONDO:0013821 "intellectual disability, autosomal dominant 16" 1 4 0 0 0 1 HP:0100255 "Metaphyseal dysplasia" 1 3 0 0 0 0 -MONDO:0001708 "pulmonary sarcoidosis" 1 7 0 0 0 1 +MONDO:0001708 "pulmonary sarcoidosis" 1 6 0 0 0 1 MONDO:0100263 "peroxisome biogenesis disorder due to PEX6 defect" 1 0 0 0 0 0 -MONDO:0001044 "esophageal atresia" 1 8 0 0 0 0 +MONDO:0001044 "esophageal atresia" 1 7 0 0 0 0 MONDO:0011901 "Charcot-Marie-Tooth disease axonal type 2H" 1 8 0 0 0 0 MONDO:0015059 "progressive non-fluent aphasia" 1 9 0 0 0 0 MONDO:0019361 "obsolete boutonneuse fever" 0 0 0 0 0 0 MONDO:0000124 "obsolete focal facial dermal dysplasia" 0 0 0 0 0 0 -MONDO:0001306 "recurrent corneal erosion" 0 6 0 0 0 0 +MONDO:0001306 "recurrent corneal erosion" 0 5 0 0 0 0 UBERON:0007237 "1st arch mandibular component" 0 0 0 0 0 0 -MONDO:0007287 "cataract 41" 1 6 0 0 0 1 +MONDO:0007287 "cataract 41" 1 5 0 0 0 1 GO:0071333 "cellular response to glucose stimulus" 1 0 0 0 0 0 MONDO:0043003 "familial acanthosis nigricans" 1 4 0 0 0 1 GO:0016126 "sterol biosynthetic process" 1 0 0 0 0 0 http://identifiers.org/hgnc/4696 "GUSB" 0 0 0 0 0 0 MONDO:0000838 "obsolete chromosomal disease" 0 0 0 0 0 0 CL:0000501 "granulosa cell" 1 3 0 0 0 0 -MONDO:0011718 "primary ciliary dyskinesia 2" 1 6 0 0 0 1 +MONDO:0011718 "primary ciliary dyskinesia 2" 1 5 0 0 0 1 MONDO:0021130 "disorder of sphingolipid biosynthesis" 1 0 0 0 0 1 NCBITaxon:12103 "Cardiovirus" 0 1 0 0 0 0 -MONDO:0005992 "trichinosis" 1 5 0 0 0 1 +MONDO:0005992 "trichinosis" 1 4 0 0 0 1 HP:0030972 "Abnormal systemic blood pressure" 1 0 0 0 0 0 MONDO:0019691 "short rib dysplasia" 0 4 0 0 0 0 MONDO:0016312 "5-fluorouracil poisoning" 1 4 0 0 0 0 @@ -3668,7 +3672,7 @@ MONDO:0025485 "feline acquired immunodeficiency syndrome" 1 2 0 0 0 1 UBERON:0000109 "gastrula stage" 1 0 0 0 0 0 http://identifiers.org/hgnc/1020 "BCS1L" 0 0 0 0 0 0 UBERON:0015875 "heel" 0 0 0 0 0 1 -MONDO:0006607 "sebaceous gland disorder" 1 7 0 0 0 1 +MONDO:0006607 "sebaceous gland disorder" 1 6 0 0 0 1 MONDO:0018296 "obsolete congenital disorder of glycosylation with developmental anomaly" 0 3 0 0 0 0 ENVO:01000820 "pedosphere"@en 1 0 0 0 0 0 MONDO:0016748 "hemangioblastoma" 1 11 0 0 0 0 @@ -3685,9 +3689,9 @@ http://identifiers.org/hgnc/2209 "COL5A1" 0 0 0 0 0 0 GO:0004092 "carnitine O-acetyltransferase activity" 1 0 0 0 0 0 MONDO:0007720 "hernia, double inguinal" 0 3 0 0 0 0 MONDO:0011786 "allergic rhinitis" 1 11 0 0 0 1 -MONDO:0011519 "autosomal dominant nonsyndromic hearing loss 23" 1 6 0 0 0 1 +MONDO:0011519 "autosomal dominant nonsyndromic hearing loss 23" 1 5 0 0 0 1 MONDO:0000493 "obsolete Muckle-Wells syndrome" 0 0 0 0 0 0 -MONDO:0016045 "tetragametic chimerism" 1 3 0 0 0 0 +MONDO:0016045 "tetragametic chimerism" 1 2 0 0 0 0 UBERON:0036295 "renal pelvis/ureter" 0 0 0 0 0 0 GO:1904256 "positive regulation of iron ion transmembrane transporter activity" 1 0 0 0 0 1 MONDO:0700070 "myopathy caused by variation in POMT1" 1 0 0 0 0 1 @@ -3695,7 +3699,7 @@ http://identifiers.org/hgnc/6902 "MASP2" 0 0 0 0 0 0 MONDO:0014213 "intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome" 0 5 0 0 0 0 http://identifiers.org/hgnc/18858 "PIGM" 0 0 0 0 0 0 GO:0015812 "gamma-aminobutyric acid transport" 1 0 0 0 0 0 -MONDO:0044201 "T+ B+ severe combined immunodeficiency" 0 2 0 0 0 0 +MONDO:0044201 "T+ B+ severe combined immunodeficiency" 0 1 0 0 0 0 UBERON:0007529 "loose mesenchyme tissue" 0 0 0 0 0 0 MONDO:0015126 "polyendocrinopathy" 0 5 0 0 0 0 MONDO:0024676 "childhood kidney Wilms tumor" 1 2 0 0 0 0 @@ -3717,7 +3721,7 @@ MONDO:0007048 "acrokeratosis verruciformis" 1 10 0 0 0 0 MONDO:0000274 "obsolete tick-borne encephalitis" 0 0 0 0 0 0 MONDO:0016985 "nevus of Ito" 1 7 0 0 0 0 MONDO:0011589 "microphthalmia with coloboma 2" 0 4 0 0 0 0 -MONDO:0019884 "distal trisomy 10q" 1 4 0 0 0 0 +MONDO:0019884 "distal trisomy 10q" 1 3 0 0 0 0 CL:0000827 "pro-T cell" 1 0 0 0 0 1 HP:0000598 "Abnormality of the ear" 1 2 0 0 0 0 GO:2000066 "positive regulation of cortisol biosynthetic process" 1 0 0 0 0 1 @@ -3745,7 +3749,7 @@ http://identifiers.org/hgnc/4598 "GRM6" 0 0 0 0 0 0 http://identifiers.org/hgnc/6149 "ITGAM" 0 0 0 0 0 0 GO:0070874 "negative regulation of glycogen metabolic process" 1 0 0 0 0 1 MONDO:0011777 "Alzheimer disease 8" 1 5 0 0 0 0 -MONDO:0011808 "cataract 27" 1 7 0 0 0 0 +MONDO:0011808 "cataract 27" 1 6 0 0 0 0 MONDO:0017000 "obsolete X chromosome number anomaly with female phenotype" 0 1 0 0 0 0 UBERON:0003100 "female organism" 1 0 0 0 0 0 GO:0070459 "prolactin secretion" 1 0 0 0 0 0 @@ -3755,11 +3759,11 @@ MONDO:0008508 "symphalangism, C. S. Lewis type" 0 3 0 0 0 0 MONDO:0014966 "periventricular nodular heterotopia 7" 1 2 0 0 0 1 MONDO:0015557 "Smouldering systemic mastocytosis" 1 2 0 0 0 0 MONDO:0000629 "cardiovascular organ benign neoplasm" 1 1 0 0 0 1 -MONDO:0000462 "eye adnexa disorder" 1 4 0 0 0 1 +MONDO:0000462 "eye adnexa disorder" 1 6 0 0 0 1 http://identifiers.org/hgnc/25223 "COQ2" 0 0 0 0 0 0 MONDO:0020581 "benign PEComa" 1 2 0 0 0 1 MONDO:0012675 "corticosteroid-binding globulin deficiency" 1 6 0 0 0 0 -MONDO:0018907 "craniopharyngioma" 1 12 0 0 0 1 +MONDO:0018907 "craniopharyngioma" 1 11 0 0 0 1 MONDO:0005804 "hyperprolactinemia" 1 9 0 0 0 0 MONDO:0021449 "benign neoplasm of stomach" 1 5 0 0 0 1 CL:0002548 "fibroblast of cardiac tissue" 1 0 0 0 0 1 @@ -3779,7 +3783,7 @@ MONDO:0045034 "infectious disease characteristic" 0 0 0 0 0 0 MONDO:0011583 "cerebral amyloid angiopathy, APP-related" 1 14 0 0 0 0 MONDO:0003090 "extrahepatic bile duct carcinoma" 1 4 0 0 0 1 UBERON:0003427 "abdominal fat pad" 0 0 0 0 0 1 -MONDO:0005918 "placenta praevia" 1 6 0 0 0 0 +MONDO:0005918 "placenta praevia" 1 5 0 0 0 0 MONDO:0019760 "terminal transverse defects of arm" 0 4 0 0 0 0 MONDO:0012843 "epilepsy, childhood absence, susceptibility to, 5" 1 2 0 0 0 1 MONDO:0003543 "trigeminal nerve disorder" 1 5 0 0 0 1 @@ -3793,7 +3797,7 @@ MONDO:0003793 "obsolete uterine carcinosarcoma" 0 0 0 0 0 0 http://identifiers.org/hgnc/20193 "HFM1" 0 0 0 0 0 0 MONDO:0010753 "cardiac valvular dysplasia, X-linked" 0 8 0 0 0 0 MONDO:0009874 "Rabson-Mendenhall syndrome" 1 9 0 0 0 0 -MONDO:0012728 "Brugada syndrome 2" 1 6 0 0 0 1 +MONDO:0012728 "Brugada syndrome 2" 1 5 0 0 0 1 GO:0042157 "lipoprotein metabolic process" 1 0 0 0 0 0 MONDO:0019346 "sialidosis type 1" 1 7 0 0 0 0 MONDO:0018900 "corticosteroid-sensitive aseptic abscess syndrome" 1 4 0 0 0 0 @@ -3810,7 +3814,7 @@ MONDO:0008656 "obsolete benign paroxysmal positional nystagmus" 0 0 0 0 0 0 MONDO:0015022 "intellectual developmental disorder with dysmorphic facies and ptosis" 0 3 0 0 0 0 http://identifiers.org/hgnc/21285 "ADCY10" 0 0 0 0 0 0 MONDO:0020041 "obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue" 0 2 0 0 0 0 -MONDO:0007017 "vitreous detachment" 1 8 0 0 0 0 +MONDO:0007017 "vitreous detachment" 1 7 0 0 0 0 NCBITaxon:162997 "Culex annulirostris" 0 1 0 0 0 0 PATO:0002132 "neoplastic, non-invasive" 1 0 0 0 0 0 MONDO:0001161 "schizoid personality disorder" 1 7 0 0 0 0 @@ -3824,7 +3828,7 @@ MONDO:0021102 "prostate phyllodes tumor" 1 4 0 0 0 1 MONDO:0011521 "inflammatory bowel disease 7" 1 4 0 0 0 0 MONDO:0021666 "ear infection" 1 3 0 0 0 1 MONDO:0015205 "isolated lissencephaly type 1 without known genetic defects" 1 5 0 0 0 0 -MONDO:0023563 "Kotzot-Richter syndrome" 0 3 0 0 0 0 +MONDO:0023563 "Kotzot-Richter syndrome" 0 4 0 0 0 0 MONDO:0017908 "obsolete hyperekplexia" 0 0 0 0 0 0 CL:0000456 "mineralocorticoid secreting cell" 0 0 0 0 0 1 MONDO:0011495 "obsolete Langerhans-cell histiocytosis" 0 0 0 0 0 0 @@ -3856,14 +3860,14 @@ GO:0043473 "pigmentation" 1 0 0 0 0 0 MONDO:0034054 "severe combined immunodeficiency due to CD70 deficiency" 0 2 0 0 0 1 MONDO:0015470 "familial isolated dilated cardiomyopathy" 1 43 0 0 0 0 MONDO:0006790 "hypercementosis" 1 9 0 0 0 0 -MONDO:0012525 "Leber congenital amaurosis 12" 1 5 0 0 0 1 +MONDO:0012525 "Leber congenital amaurosis 12" 1 4 0 0 0 1 PATO:0015008 "distensibility" 1 0 0 0 0 0 NCBITaxon:12089 "Coxsackievirus A24" 0 1 0 0 0 0 UBERON:0016853 "interdigital gland" 0 0 0 0 0 1 MONDO:0018854 "acquired purpura fulminans" 1 6 0 0 0 1 http://identifiers.org/hgnc/1348 "SAMD9" 0 0 0 0 0 0 MF:0000008 "cognitive process" 1 0 0 0 0 0 -MONDO:0019211 "isolated congenital anonychia" 1 6 0 0 0 0 +MONDO:0019211 "isolated congenital anonychia" 1 5 0 0 0 0 GO:0050673 "epithelial cell proliferation" 1 0 0 0 0 0 CHEBI:23443 "cyclic amide" 0 0 0 0 0 0 CHEBI:33563 "glycolipid" 1 0 0 0 0 0 @@ -3880,7 +3884,7 @@ CHEBI:23482 "cyclohexanones" 1 0 0 0 0 0 MONDO:0006587 "obsolete nodular nonsuppurative panniculitis" 0 0 0 0 0 0 UBERON:0008971 "left colon" 0 0 0 0 0 0 GO:1905208 "negative regulation of cardiocyte differentiation" 1 0 0 0 0 1 -MONDO:0100245 "acquired paroxysmal nocturnal hemoglobinuria" 1 12 0 0 0 1 +MONDO:0100245 "acquired paroxysmal nocturnal hemoglobinuria" 1 9 0 0 0 1 CHEBI:50817 "iron oxide mineral" 0 0 0 0 0 0 MONDO:0021953 "tuberculous fibrosis of lung" 1 9 0 0 0 1 UBERON:0004145 "outflow tract" 0 0 0 0 0 0 @@ -3889,7 +3893,7 @@ MONDO:0006316 "neuroblastic tumor" 1 3 0 0 0 0 MONDO:0006223 "gastric diffuse large B-cell lymphoma" 1 3 0 0 0 1 MONDO:0019529 "radiation myelitis" 1 4 0 0 0 0 UBERON:0003720 "anterior cranial fossa" 0 0 0 0 0 0 -MONDO:0005487 "schizoaffective disorder" 1 6 0 0 0 0 +MONDO:0005487 "schizoaffective disorder" 1 4 0 0 0 0 CL:1000493 "mesothelial cell of visceral pleura" 1 1 0 0 0 1 NCBITaxon:6447 "Mollusca" 0 1 0 0 0 0 MONDO:0016171 "polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies" 0 2 0 0 0 0 @@ -3912,7 +3916,7 @@ CHEBI:35519 "cholane" 0 0 0 0 0 0 MONDO:0005161 "human papilloma virus infection" 1 5 0 0 0 1 MONDO:0011541 "dilated cardiomyopathy 1J" 1 5 0 0 0 1 NCBITaxon:119068 "Spirillaceae" 0 1 0 0 0 0 -MONDO:0007147 "obstructive sleep apnea syndrome" 1 18 0 0 0 0 +MONDO:0007147 "obstructive sleep apnea syndrome" 1 17 0 0 0 0 MONDO:0008604 "triphalangeal thumb with double phalanges" 0 3 0 0 0 0 MONDO:0013951 "peroxisome biogenesis disorder 12A (Zellweger)" 0 3 0 0 0 0 MONDO:0011411 "Chudley-McCullough syndrome" 0 5 0 0 0 0 @@ -3920,7 +3924,7 @@ UBERON:0011877 "margin of tongue" 0 0 0 0 0 1 UBERON:0010191 "aortic system" 0 0 0 0 0 0 MONDO:0005099 "subarachnoid hemorrhage" 1 7 0 0 0 0 MONDO:0007403 "inherited Creutzfeldt-Jakob disease" 1 6 0 0 0 1 -MONDO:0006592 "parapsoriasis" 1 11 0 0 0 0 +MONDO:0006592 "parapsoriasis" 1 10 0 0 0 0 UBERON:0035549 "vasculature of integument" 0 0 0 0 0 1 UBERON:0004451 "trunk or cervical vertebra" 0 0 0 0 0 2 CHEBI:38187 "pyridinecarbaldehyde" 0 0 0 0 0 0 @@ -3946,14 +3950,15 @@ UBERON:0009199 "facial suture" 0 0 0 0 0 1 http://identifiers.org/hgnc/6143 "ITGA7" 0 0 0 0 0 0 GO:0097756 "obsolete negative regulation of blood vessel diameter" 1 0 0 0 0 0 FOODON:00002244 "snail food product"@en 0 0 0 0 0 0 -MONDO:0018063 "nodular non-suppurative panniculitis" 1 9 0 0 0 0 +MONDO:0018063 "nodular non-suppurative panniculitis" 1 8 0 0 0 0 http://identifiers.org/hgnc/4845 "HCN1" 0 0 0 0 0 0 UBERON:0003231 "epithelium of hip" 0 0 0 0 0 1 +MONDO:0022794 "obsolete chromosome 8 deletion" 1 1 0 0 0 0 NCBITaxon:39725 "Circovirus" 0 1 0 0 0 0 MONDO:0017163 "obsolete hemolytic disease due to fetomaternal alloimmunization" 0 6 0 0 0 0 MONDO:0004311 "carcinoma of Cowper glands" 1 3 0 0 0 1 MONDO:0016765 "19p13.12 microdeletion syndrome" 1 6 0 0 0 1 -MONDO:0005498 "botulism" 1 13 0 0 0 1 +MONDO:0005498 "botulism" 1 12 0 0 0 1 MONDO:0024282 "mucinous ovarian cancer" 1 3 0 0 0 1 MONDO:0005017 "diffuse gastric adenocarcinoma" 1 5 0 0 0 1 MONDO:0018740 "drug-induced methemoglobinemia" 1 5 0 0 0 1 @@ -3984,11 +3989,11 @@ UBERON:0009505 "mesenchyme of trachea" 0 0 0 0 0 1 HP:0000739 "Anxiety" 1 4 0 0 0 0 GO:1904409 "regulation of secretory granule organization" 1 0 0 0 0 1 MONDO:0006038 "indeterminate colitis" 1 6 0 0 0 0 -MONDO:0011192 "autosomal recessive nonsyndromic hearing loss 18A" 1 5 0 0 0 1 +MONDO:0011192 "autosomal recessive nonsyndromic hearing loss 18A" 1 4 0 0 0 1 MONDO:0008962 "Griscelli syndrome type 1" 1 8 0 0 0 1 GO:0098645 "collagen network" 1 0 0 0 0 0 GO:0015698 "inorganic anion transport" 1 0 0 0 0 0 -MONDO:0012087 "primary ciliary dyskinesia 4" 1 5 0 0 0 0 +MONDO:0012087 "primary ciliary dyskinesia 4" 1 4 0 0 0 0 CHR:9606-chr8p23.1 "8p23.1 (Human)" 0 0 0 0 0 0 http://identifiers.org/hgnc/9386 "PRKAG2" 0 0 0 0 0 0 GO:1902262 "apoptotic process involved in blood vessel morphogenesis" 1 0 0 0 0 1 @@ -4016,7 +4021,7 @@ MONDO:0000413 "infancy electroclinical syndrome" 1 1 0 0 0 0 UBERON:0015146 "manus hair" 0 0 0 0 0 1 HsapDv:0000122 "28-year-old human stage" 1 0 0 0 0 0 MONDO:0017222 "Pelizaeus-Merzbacher disease, classic form" 1 3 0 0 0 0 -MONDO:0002081 "musculoskeletal system disorder" 1 6 0 0 0 1 +MONDO:0002081 "musculoskeletal system disorder" 1 9 0 0 0 1 CL:0000557 "granulocyte monocyte progenitor cell" 1 0 0 0 0 0 UBERON:0010123 "future facial nucleus" 0 0 0 0 0 1 CL:0000215 "barrier cell" 1 0 0 0 0 0 @@ -4025,15 +4030,15 @@ CHEBI:76759 "EC 3.* (hydrolase) inhibitor" 1 0 0 0 0 0 NCBITaxon:33317 "Protostomia" 0 1 0 0 0 0 MONDO:0005927 "polyomavirus infectious disease" 1 3 0 0 0 1 MONDO:0014473 "microcephaly 13, primary, autosomal recessive" 1 4 0 0 0 1 -MONDO:0007622 "flood factor deficiency" 0 3 0 0 0 0 GO:0002865 "negative regulation of acute inflammatory response to antigenic stimulus" 1 0 0 0 0 1 -MONDO:0011774 "autosomal recessive nonsyndromic hearing loss 30" 1 6 0 0 0 1 +MONDO:0011774 "autosomal recessive nonsyndromic hearing loss 30" 1 5 0 0 0 1 ECTO:0000486 "exposure to chemical with application" 1 0 0 0 0 1 MONDO:0006091 "appendix neuroendocrine tumor G1" 1 7 0 0 0 1 MONDO:0020279 "obsolete metabolic disease with corneal opacity" 0 2 0 0 0 0 http://identifiers.org/hgnc/25695 "CARS2" 0 0 0 0 0 0 MONDO:0004892 "refractive error" 1 5 0 0 0 0 -MONDO:0012088 "primary ciliary dyskinesia 5" 1 5 0 0 0 1 +MONDO:0021059 "obsolete head or neck disorder/disorder" 1 3 0 0 0 0 +MONDO:0012088 "primary ciliary dyskinesia 5" 1 4 0 0 0 1 MONDO:0006673 "pituitary gland basophil adenoma" 1 6 0 0 0 0 UBERON:0013772 "left nipple" 0 0 0 0 0 1 HP:0010528 "Prosopagnosia" 1 3 0 0 0 0 @@ -4043,7 +4048,7 @@ MONDO:0007394 "obsolete craniodiaphyseal dysplasia" 0 0 0 0 0 0 MONDO:0100371 "acute hepatitis C virus infection" 1 1 0 0 0 0 NCBITaxon:1980613 "unclassified Bunyavirales" 0 1 0 0 0 0 HP:0025426 "Abnormal bronchus morphology" 1 0 0 0 0 0 -MONDO:0009454 "immunodeficiency-centromeric instability-facial anomalies syndrome 1" 1 5 0 0 0 1 +MONDO:0009454 "immunodeficiency-centromeric instability-facial anomalies syndrome 1" 1 4 0 0 0 1 UBERON:0003412 "pelvic appendage bud mesenchyme" 0 0 0 0 0 1 MONDO:0017621 "congenital sucrase-isomaltase deficiency with starch and lactose intolerance" 0 2 0 0 0 0 MONDO:0009191 "Lowry-Wood syndrome" 1 8 0 0 0 0 @@ -4058,7 +4063,7 @@ MONDO:0014174 "renal-hepatic-pancreatic dysplasia 2" 1 3 0 0 0 1 UBERON:0005863 "cartilaginous condensation" 0 0 0 0 0 0 NCIT:C35461 "Clinical Course of Disease" 0 0 0 0 0 0 GO:0007162 "negative regulation of cell adhesion" 1 0 0 0 0 1 -MONDO:0005570 "hematologic disorder" 1 14 0 0 0 1 +MONDO:0005570 "hematologic disorder" 1 16 0 0 0 1 http://identifiers.org/hgnc/24249 "YARS2" 0 0 0 0 0 0 http://identifiers.org/hgnc/24265 "PTRH2" 0 0 0 0 0 0 GO:0042325 "regulation of phosphorylation" 1 0 0 0 0 1 @@ -4069,10 +4074,10 @@ MONDO:0017625 "familial primary hypomagnesemia with hypocalcuria" 0 3 0 0 0 0 MONDO:0014059 "microphthalmia, isolated, with coloboma 9" 1 3 0 0 0 1 MONDO:0014585 "congenital myasthenic syndrome 3C" 1 5 0 0 0 0 MONDO:0009578 "neurocutaneous melanocytosis" 1 9 0 0 0 0 -MONDO:0001403 "labium majus cancer" 1 6 0 0 0 1 +MONDO:0001403 "labium majus cancer" 1 5 0 0 0 1 UBERON:0003215 "alveolus" 0 0 0 0 0 0 GO:1900418 "obsolete positive regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter" 1 0 0 0 0 0 -MONDO:0019565 "hereditary von Willebrand disease" 1 17 0 0 0 1 +MONDO:0019565 "hereditary von Willebrand disease" 1 16 0 0 0 1 MONDO:0008164 "otosclerosis 1" 0 3 0 0 0 0 http://identifiers.org/hgnc/10001 "RGS5" 0 0 0 0 0 0 MONDO:0003068 "postauricular lymphadenitis" 1 3 0 0 0 1 @@ -4081,13 +4086,13 @@ MONDO:0019535 "drug-induced autoimmune hemolytic anemia" 1 3 0 0 0 1 MONDO:0025061 "edema disease of swine" 1 2 0 0 0 0 MONDO:0015639 "benign partial epilepsy with secondarily generalized seizures in infancy" 1 3 0 0 0 0 MONDO:0044247 "obsolete palmomental reflex" 0 1 0 0 0 0 -MONDO:0006858 "mouth disorder" 1 7 0 0 0 1 +MONDO:0006858 "mouth disorder" 1 8 0 0 0 1 UBERON:0003859 "forelimb mesenchyme" 0 0 0 0 0 1 MONDO:0022538 "leukoplakia of gingiva" 1 4 0 0 0 1 MONDO:0017484 "femoral agenesis/hypoplasia, unilateral" 0 2 0 0 0 0 ENVO:01001367 "primary aerosol formation process"@en 1 0 0 0 0 1 ENVO:01000813 "astronomical body part"@en 1 0 0 0 0 0 -MONDO:0005843 "mediastinal cancer" 1 9 0 0 0 1 +MONDO:0005843 "mediastinal cancer" 1 8 0 0 0 1 MONDO:0044974 "obsolete disease of supramolecular complex" 0 0 0 0 0 0 GO:2001252 "positive regulation of chromosome organization" 1 0 0 0 0 1 GO:0051047 "positive regulation of secretion" 1 0 0 0 0 1 @@ -4103,8 +4108,8 @@ MONDO:0014128 "TCF12-related craniosynostosis" 1 4 0 0 0 1 MONDO:0012755 "episodic ataxia type 7" 1 7 0 0 0 0 MONDO:0016593 "acquired ataxia" 1 2 0 0 0 1 MONDO:0032908 "CEBALID syndrome" 0 1 0 0 0 0 -MONDO:0012976 "autosomal dominant nonsyndromic hearing loss 2B" 1 5 0 0 0 1 -MONDO:0012085 "primary ciliary dyskinesia 3" 1 5 0 0 0 1 +MONDO:0012976 "autosomal dominant nonsyndromic hearing loss 2B" 1 4 0 0 0 1 +MONDO:0012085 "primary ciliary dyskinesia 3" 1 4 0 0 0 1 MONDO:0011239 "colobomatous macrophthalmia-microcornea syndrome" 0 4 0 0 0 0 MONDO:0021674 "post-viral disorder" 1 2 0 0 0 1 MONDO:0020421 "coronary artery intramyocardial course" 0 2 0 0 0 0 @@ -4131,14 +4136,14 @@ MONDO:0021225 "uvea neoplasm" 1 2 0 0 0 1 MONDO:0007143 "aortic arch anomaly-facial dysmorphism-intellectual disability syndrome" 1 6 0 0 0 0 UBERON:0003328 "mesenchyme of footplate" 0 0 0 0 0 1 CHEBI:50268 "GABA modulator" 1 0 0 0 0 0 -MONDO:0007150 "arcus senilis" 1 8 0 0 0 0 +MONDO:0007150 "arcus senilis" 1 7 0 0 0 0 UBERON:0007181 "serosa of infundibulum of uterine tube" 0 0 0 0 0 1 MONDO:0006022 "acidosis disorder" 1 5 0 0 0 1 MONDO:0000626 "vestibular gland benign neoplasm" 1 1 0 0 0 1 CHEBI:17137 "hydrogensulfite" 0 0 0 0 0 0 HP:0009755 "Ankyloblepharon" 1 5 0 0 0 0 -MONDO:0015451 "univentricular heart" 1 5 0 0 0 0 -MONDO:0007256 "hepatocellular carcinoma" 1 17 0 0 0 1 +MONDO:0015451 "univentricular heart" 1 4 0 0 0 0 +MONDO:0007256 "hepatocellular carcinoma" 1 16 0 0 0 1 MONDO:0021091 "papillary cystadenoma" 1 4 0 0 0 1 MONDO:0007561 "multiple epiphyseal dysplasia type 1" 1 8 0 0 0 1 CL:0002111 "CD38-negative unswitched memory B cell" 1 0 0 0 0 0 @@ -4168,7 +4173,7 @@ MONDO:0022071 "carbon baby syndrome" 1 3 0 0 0 0 MONDO:0000374 "bile duct carcinoma in situ" 1 1 0 0 0 1 GO:0031330 "negative regulation of cellular catabolic process" 1 0 0 0 0 1 MONDO:0010388 "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked" 0 4 0 0 0 0 -MONDO:0013463 "dextro-looped transposition of the great arteries 3" 1 5 0 0 0 1 +MONDO:0013463 "dextro-looped transposition of the great arteries 3" 1 4 0 0 0 1 http://identifiers.org/hgnc/17642 "DCLRE1C" 0 0 0 0 0 0 MONDO:0013272 "chromosome 14q11-q22 deletion syndrome" 1 7 0 0 0 1 http://identifiers.org/hgnc/12933 "ZNF148" 0 0 0 0 0 0 @@ -4221,8 +4226,8 @@ HP:0002815 "Abnormality of the knee" 1 1 0 0 0 0 MONDO:0030938 "spermatogenic failure 52" 0 1 0 0 0 0 MONDO:0004504 "penile urethral cancer" 1 3 0 0 0 1 MONDO:0012093 "prostate cancer, hereditary, 3" 0 3 0 0 0 0 -MONDO:0005854 "mixed connective tissue disease" 1 10 0 0 0 0 -MONDO:0006610 "skin atrophy" 1 9 0 0 0 0 +MONDO:0005854 "mixed connective tissue disease" 1 9 0 0 0 0 +MONDO:0006610 "skin atrophy" 1 7 0 0 0 0 MONDO:0003711 "obsolete malignant peripheral nerve sheath tumor" 0 0 0 0 0 0 MONDO:0012094 "prostate cancer, hereditary, 4" 0 3 0 0 0 0 FOODON:03411081 "penaeid shrimp family"@en 1 0 0 0 0 0 @@ -4273,7 +4278,7 @@ ENVO:01000544 "boundary layer"@en 1 0 0 0 0 0 MONDO:0020176 "palpebral sebaceous gland tumor" 1 2 0 0 0 1 MONDO:0015754 "obsolete cylindrical spirals myopathy" 0 0 0 0 0 0 MONDO:0023267 "goldstein hutt syndrome" 0 2 0 0 0 0 -MONDO:0010837 "primary hyperparathyroidism" 1 10 0 0 0 0 +MONDO:0010837 "primary hyperparathyroidism" 1 9 0 0 0 0 MONDO:0001426 "mediastinum neurofibroma" 1 3 0 0 0 1 http://identifiers.org/hgnc/28396 "TMEM67" 0 0 0 0 0 0 HP:0011043 "Abnormality of circulating adrenocorticotropin level" 1 1 0 0 0 0 @@ -4285,7 +4290,7 @@ MONDO:0007734 "holoprosencephaly 4" 1 6 0 0 0 1 UBERON:0010695 "mesenchyme of tarsal region" 0 0 0 0 0 1 MONDO:0016602 "citrin deficiency" 1 4 0 0 0 0 MONDO:0018079 "thymic epithelial neoplasm" 1 8 0 0 0 1 -MONDO:0100036 "variable age onset epilepsy" 1 2 0 0 0 0 +MONDO:0100036 "variable age onset epilepsy" 1 1 0 0 0 0 http://identifiers.org/hgnc/14409 "SLC25A19" 0 0 0 0 0 0 MONDO:0018757 "supratip dysplasia" 1 2 0 0 0 0 MONDO:0002645 "cerebritis" 1 3 0 0 0 1 @@ -4298,7 +4303,7 @@ MONDO:0010569 "X-linked complicated corpus callosum dysgenesis" 1 7 0 0 0 0 NCBITaxon:186817 "Bacillaceae" 0 1 0 0 0 0 MONDO:0009798 "intellectual disability-cataracts-calcified pinnae-myopathy syndrome" 1 7 0 0 0 0 MONDO:0019440 "wild type ABeta2M amyloidosis" 0 5 0 0 0 0 -MONDO:0002511 "stenosis of lacrimal sac" 0 5 0 0 0 0 +MONDO:0002511 "stenosis of lacrimal sac" 0 3 0 0 0 0 NCBITaxon:775 "Rickettsiaceae" 0 4 0 0 0 0 UBERON:0002048 "lung" 0 0 0 0 0 0 http://identifiers.org/hgnc/7698 "NDUFB3" 0 0 0 0 0 0 @@ -4330,17 +4335,18 @@ MONDO:0009087 "deafness, neural, congenital moderate" 0 3 0 0 0 0 MONDO:0009168 "Fowler syndrome" 0 7 0 0 0 0 GO:0048875 "chemical homeostasis within a tissue" 1 0 0 0 0 0 MONDO:0011303 "focal segmental glomerulosclerosis 1" 1 5 0 0 0 1 +MONDO:0009930 "obsolete pulmonary arteriovenous malformation" 1 10 0 0 0 0 UBERON:0003334 "serosa of rectum" 0 0 0 0 0 1 MONDO:0006245 "hidradenocarcinoma" 1 4 0 0 0 0 MONDO:0019737 "thrombotic microangiopathy" 1 9 0 0 0 0 -MONDO:0006714 "coronary aneurysm" 1 11 0 0 0 0 +MONDO:0006714 "coronary aneurysm" 1 9 0 0 0 0 MONDO:0010895 "ABCD syndrome" 1 6 0 0 0 0 http://identifiers.org/hgnc/9045 "PLAG1" 0 0 0 0 0 0 MONDO:0018236 "obsolete dysostosis with limb and face anomalies as a major feature" 0 1 0 0 0 0 MONDO:0014028 "distal arthrogryposis type 5D" 1 6 0 0 0 1 MONDO:0001783 "endometrial stromal nodule" 1 6 0 0 0 0 CHEBI:28829 "aminophenol" 1 0 0 0 0 0 -MONDO:0001016 "epididymis cancer" 1 6 0 0 0 1 +MONDO:0001016 "epididymis cancer" 1 5 0 0 0 1 HP:0001397 "Hepatic steatosis" 1 4 0 0 0 0 MONDO:0054750 "amyotrophic lateral sclerosis, susceptibility to, 24" 0 2 0 0 0 0 CHEBI:16199 "urea" 1 0 0 0 0 0 @@ -4368,7 +4374,7 @@ UBERON:0035295 "left ear" 0 0 0 0 0 1 GO:0009891 "positive regulation of biosynthetic process" 1 0 0 0 0 1 MONDO:0056805 "benign peripheral nerve granular cell tumor" 1 2 0 0 0 1 HP:0008071 "Maternal hypertension" 1 2 0 0 0 0 -MONDO:0005230 "cellulitis" 1 10 0 0 0 0 +MONDO:0005230 "cellulitis" 1 9 0 0 0 0 MONDO:0011916 "Charcot-Marie-Tooth disease axonal type 2K" 1 9 0 0 0 0 MONDO:0012858 "primary CD59 deficiency" 0 5 0 0 0 0 http://identifiers.org/hgnc/8082 "NYX" 0 0 0 0 0 0 @@ -4390,7 +4396,7 @@ UBERON:0004469 "musculature of back" 0 0 0 0 0 1 MONDO:0011645 "obsolete aneurysmal bone cysts" 0 0 0 0 0 0 MONDO:0000942 "corneal disorder" 1 9 0 0 0 1 GO:0004485 "methylcrotonoyl-CoA carboxylase activity" 1 0 0 0 0 0 -MONDO:0002251 "hepatitis" 1 10 0 0 0 1 +MONDO:0002251 "hepatitis" 1 9 0 0 0 1 MONDO:0024276 "glandular cell neoplasm" 0 3 0 0 0 0 MONDO:0023369 "disorder of facial skeleton" 1 0 0 0 0 1 MONDO:0023569 "Kozlowski Ouvrier syndrome" 0 3 0 0 0 0 @@ -4401,7 +4407,7 @@ http://identifiers.org/hgnc/14977 "SNX14" 0 0 0 0 0 0 GO:1903283 "negative regulation of glutathione peroxidase activity" 1 0 0 0 0 1 MONDO:0016132 "obsolete rare hereditary disease with peripheral neuropathy" 0 1 0 0 0 0 GO:0045582 "positive regulation of T cell differentiation" 1 0 0 0 0 1 -MONDO:0010291 "obsolete androgen insensitivity syndrome due to coactivator deficiency" 0 0 0 0 0 0 +MONDO:0010291 "obsolete androgen insensitivity syndrome due to coactivator deficiency" 0 1 0 0 0 0 ECTO:0000485 "exposure to chemical with biological effect" 1 0 0 0 0 1 HP:0003674 "Onset" 1 2 0 0 0 0 FOODON:00001141 "wheat food product"@en 0 0 0 0 0 0 @@ -4411,11 +4417,11 @@ MONDO:0008646 "obsolete long QT syndrome 1" 0 0 0 0 0 0 UBERON:0002217 "synovial joint" 0 0 0 0 0 1 MONDO:0002383 "Pacinian tumor" 1 6 0 0 0 0 GO:0016247 "channel regulator activity" 1 0 0 0 0 1 -MONDO:0001362 "obsolete leukocoria" 1 5 0 0 0 0 +MONDO:0001362 "obsolete leukocoria" 1 4 0 0 0 0 MONDO:0011276 "orofacial cleft 2" 0 5 0 0 0 0 UBERON:5101463 "manual digit 1 digitopodial skeleton" 0 0 0 0 0 1 UBERON:0007204 "brachiocephalic vasculature" 0 0 0 0 0 0 -MONDO:0001196 "psychologic dyspareunia" 0 5 0 0 0 1 +MONDO:0001196 "psychologic dyspareunia" 0 4 0 0 0 1 MONDO:0019175 "primary lymphedema" 1 3 0 0 0 0 MONDO:0019219 "inborn disorder of neurotransmitter metabolism and transport" 0 2 0 0 0 0 http://identifiers.org/hgnc/5330 "IARS1" 0 0 0 0 0 0 @@ -4444,7 +4450,7 @@ UBERON:0013241 "embryonic urethral groove" 0 0 0 0 0 0 MONDO:0013628 "hyperphosphatasia with intellectual disability syndrome 3" 1 3 0 0 0 1 MONDO:0042956 "Saal-Bulas syndrome" 0 3 0 0 0 0 CHEBI:33433 "monoatomic halogen" 0 0 0 0 0 0 -MONDO:0014284 "short-rib thoracic dysplasia 10 with or without polydactyly" 1 7 0 0 0 0 +MONDO:0014284 "short-rib thoracic dysplasia 10 with or without polydactyly" 1 5 0 0 0 0 MONDO:0005221 "renal pelvis urothelial carcinoma" 1 6 0 0 0 1 http://identifiers.org/hgnc/16817 "ESS2" 0 0 0 0 0 0 MONDO:0001367 "chronic congestive splenomegaly" 1 5 0 0 0 1 @@ -4470,7 +4476,7 @@ http://identifiers.org/hgnc/9965 "RERE" 0 0 0 0 0 0 NCBITaxon:127916 "Ichthyosporea" 0 4 0 0 0 0 http://identifiers.org/hgnc/4118 "GALK1" 0 0 0 0 0 0 MONDO:0013504 "spermatogenic failure 8" 1 4 0 0 0 1 -MONDO:0021113 "respiratory failure" 1 11 0 0 0 0 +MONDO:0021113 "respiratory failure" 1 10 0 0 0 0 MONDO:0002670 "ampulla of vater adenocarcinoma" 1 4 0 0 0 1 MONDO:0029142 "hearing loss, autosomal recessive 111" 0 2 0 0 0 0 MONDO:0016645 "obsolete rare neoplastic disease" 0 2 0 0 0 0 @@ -4486,6 +4492,7 @@ MONDO:0016005 "indomethacin embryofetopathy" 1 6 0 0 0 0 MONDO:0010077 "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome" 1 6 0 0 0 0 GO:0019899 "enzyme binding" 1 0 0 0 0 0 MONDO:0019865 "mosaic trisomy 4" 1 3 0 0 0 1 +MONDO:0007317 "obsolete chlorpropamide-alcohol flushing" 0 2 0 0 0 0 MONDO:0005094 "hemangiopericytoma" 1 5 0 0 0 0 OBA:1001084 "feces osmolality" 1 0 0 0 0 1 MONDO:0013806 "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome" 0 3 0 0 0 0 @@ -4527,7 +4534,7 @@ MONDO:0006527 "anhidrosis" 1 8 0 0 0 0 ENVO:21001216 "ultraviolet radiation" 1 0 0 0 0 0 HP:0010566 "Hamartoma" 1 4 0 0 0 0 PATO:0070006 "bipolar morphology" 1 0 0 0 0 0 -MONDO:0003227 "prosopagnosia" 1 4 0 0 0 1 +MONDO:0003227 "prosopagnosia" 1 3 0 0 0 1 MONDO:0022463 "obsolete anophthalmia megalocornea cardiopathy skeletal anomalies" 0 0 0 0 0 0 NCBITaxon:5763 "Naegleria fowleri" 0 1 0 0 0 0 MONDO:0060577 "neurodevelopmental disorder with microcephaly, ataxia, and seizures" 0 2 0 0 0 0 @@ -4546,7 +4553,7 @@ MONDO:0021375 "tumor of duodenum" 1 2 0 0 0 1 MONDO:0023138 "Feingold trainer syndrome" 0 3 0 0 0 0 http://identifiers.org/hgnc/21086 "MIB1" 0 0 0 0 0 0 MONDO:0008469 "spondyloepimetaphyseal dysplasia-hypotrichosis syndrome" 1 6 0 0 0 0 -MONDO:0019609 "Zellweger spectrum disorders" 1 21 0 0 0 0 +MONDO:0019609 "Zellweger spectrum disorders" 1 22 0 0 0 0 MONDO:0013111 "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" 1 5 0 0 0 1 SO:0001411 "biological_region" 1 0 0 0 0 0 MONDO:0014155 "atrial fibrillation, familial, 13" 1 3 0 0 0 1 @@ -4556,7 +4563,7 @@ GO:1901227 "negative regulation of transcription from RNA polymerase II promoter MONDO:0037858 "inherited fatty acid metabolism disorder" 1 2 0 0 0 1 http://identifiers.org/hgnc/18451 "MCFD2" 0 0 0 0 0 0 CL:0000706 "choroid plexus epithelial cell" 1 1 0 0 0 1 -MONDO:0010427 "syndromic X-linked intellectual disability Raymond type" 1 4 0 0 0 0 +MONDO:0010427 "syndromic X-linked intellectual disability Raymond type" 1 3 0 0 0 0 MONDO:0020626 "obsolete yt blood group antigen" 0 1 0 0 0 0 MONDO:0019347 "peeling skin syndrome" 1 10 0 0 0 0 MONDO:0002573 "obsolete pleomorphic rhabdomyosarcoma" 0 0 0 0 0 0 @@ -4565,7 +4572,7 @@ MONDO:0008160 "osteosclerosis with ichthyosis and fractures" 0 3 0 0 0 0 CHEBI:50858 "corticosteroid" 1 0 0 0 0 0 NCBITaxon:1489841 "Zeiogadaria" 0 1 0 0 0 0 MONDO:0009978 "retinal degeneration-nanophthalmos-glaucoma syndrome" 1 7 0 0 0 0 -MONDO:0005106 "lipoma" 1 12 0 0 0 0 +MONDO:0005106 "lipoma" 1 10 0 0 0 0 MONDO:0007501 "preauricular fistulae, congenital" 0 2 0 0 0 0 MONDO:0018120 "obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement" 0 2 0 0 0 0 MONDO:0019169 "pyruvate dehydrogenase deficiency" 1 17 0 0 0 1 @@ -4573,7 +4580,7 @@ CHEBI:18085 "glycosaminoglycan" 1 0 0 0 0 0 GO:0015695 "organic cation transport" 1 0 0 0 0 0 MONDO:0018208 "neurofibromatosis type 1 due to NF1 mutation or intragenic deletion" 0 5 0 0 0 0 MONDO:0003719 "renal pelvis neoplasm" 1 5 0 0 0 1 -MONDO:0005508 "hereditary multiple osteochondromas" 1 14 0 0 0 0 +MONDO:0005508 "hereditary multiple osteochondromas" 1 13 0 0 0 0 http://identifiers.org/hgnc/25808 "FAM161A" 0 0 0 0 0 0 http://identifiers.org/hgnc/6137 "ITGA2" 0 0 0 0 0 0 MONDO:0030898 "immunodeficiency 76" 0 1 0 0 0 0 @@ -4582,8 +4589,9 @@ NCBITaxon:279271 "Leptotrombidium" 0 1 0 0 0 0 UBERON:0001441 "hindlimb skeleton" 0 0 0 0 0 1 MONDO:0005115 "temporal lobe epilepsy" 1 9 0 0 0 1 MONDO:0009733 "nephrotic syndrome, type 4" 1 4 0 0 0 1 +MONDO:0007141 "obsolete antiviral state repressor, regulator of" 0 1 0 0 0 0 MONDO:0007863 "Kleine-Levin syndrome" 1 11 0 0 0 0 -MONDO:0001116 "mesenteric lymphadenitis" 1 7 0 0 0 1 +MONDO:0001116 "mesenteric lymphadenitis" 1 6 0 0 0 1 MONDO:0021383 "neoplasm of floor of mouth" 1 3 0 0 0 1 UBERON:0009647 "tympanic membrane epithelium" 0 0 0 0 0 1 MONDO:0020702 "autosomal dominant epidermolytic ichthyosis" 0 0 0 0 0 1 @@ -4637,10 +4645,11 @@ MONDO:0008185 "hereditary chronic pancreatitis" 1 8 0 0 0 1 GO:0031226 "intrinsic component of plasma membrane" 1 0 0 0 0 1 MONDO:0003623 "obsolete pancreatic acinar cell adenocarcinoma" 0 0 0 0 0 0 UBERON:0016410 "male breast" 0 0 0 0 0 1 -MONDO:0001485 "atypical depressive disorder" 1 4 0 0 0 0 +MONDO:0001485 "atypical depressive disorder" 1 3 0 0 0 0 MONDO:0021528 "benign neoplasm of male breast" 1 3 0 0 0 1 MONDO:0100374 "acute myeloid leukemia, t(16;16)(p13.1;q22)" 1 2 0 0 0 0 -MONDO:0004609 "herpes simplex infectious disease" 1 9 0 0 0 1 +MONDO:0013799 "obsolete efavirenz, poor metabolism of" 0 1 0 0 0 0 +MONDO:0004609 "herpes simplex infectious disease" 1 8 0 0 0 1 UBERON:0000095 "cardiac neural crest" 0 0 0 0 0 0 UBERON:0006226 "endolymphatic appendage" 0 0 0 0 0 0 UBERON:0001956 "cartilage of bronchus" 0 0 0 0 0 1 @@ -4649,7 +4658,7 @@ MONDO:0018914 "hypotrichosis simplex" 1 14 0 0 0 0 MONDO:0012236 "keratoconus 4" 0 3 0 0 0 0 MONDO:0013309 "chromosome 2p12-p11.2 deletion syndrome" 0 3 0 0 0 1 MONDO:0014156 "atrial fibrillation, familial, 14" 1 3 0 0 0 1 -MONDO:0014105 "hypogonadotropic hypogonadism 19 with or without anosmia" 1 4 0 0 0 1 +MONDO:0014105 "hypogonadotropic hypogonadism 19 with or without anosmia" 1 3 0 0 0 1 MONDO:0017459 "obsolete central polydactyly of toes" 0 3 0 0 0 0 MONDO:0002007 "obsolete VACTERL association" 0 0 0 0 0 0 MONDO:0010014 "craniometadiaphyseal dysplasia, wormian bone type" 1 4 0 0 0 0 @@ -4659,17 +4668,17 @@ MONDO:0006620 "vulva fibroepithelial polyp" 1 4 0 0 0 1 MONDO:0001396 "abnormal threshold of rods" 0 5 0 0 0 0 MONDO:0011464 "spinocerebellar ataxia type 11" 1 9 0 0 0 0 UBERON:0001962 "gut-associated lymphoid tissue" 0 0 0 0 0 1 -MONDO:0006670 "bacterial meningitis" 1 14 0 0 0 1 +MONDO:0006670 "bacterial meningitis" 1 12 0 0 0 1 UBERON:0009010 "periurethral tissue" 0 0 0 0 0 1 MFOMD:0000024 "pathological mental process" 0 0 0 0 0 0 MONDO:0012488 "hepatitis B virus, susceptibility to" 0 2 0 0 0 0 MONDO:0015900 "hypoaldosteronism disease" 0 6 0 0 0 0 -MONDO:0000476 "generalized dystonia" 0 10 0 0 0 0 +MONDO:0000476 "generalized dystonia" 0 8 0 0 0 0 UBERON:0004382 "epiphysis of humerus" 0 0 0 0 0 1 MONDO:0024335 "retrobulbar neuritis" 0 1 0 0 0 0 PATO:0000052 "shape" 1 0 0 0 0 0 MONDO:0006352 "paranasal sinus adenoid cystic carcinoma" 1 3 0 0 0 1 -MONDO:0008380 "retinoblastoma" 1 12 0 0 0 0 +MONDO:0008380 "retinoblastoma" 1 11 0 0 0 0 MONDO:0021159 "gonococcal salpingitis" 1 2 0 0 0 1 UBERON:0010758 "subdivision of organism along appendicular axis" 0 0 0 0 0 0 MONDO:0019326 "phakomatosis cesiomarmorata" 0 5 0 0 0 0 @@ -4678,7 +4687,7 @@ HP:0000175 "Cleft palate" 1 6 0 0 0 0 MONDO:0003159 "vascular hemostatic disease" 1 4 0 0 0 1 GO:0099080 "supramolecular complex" 1 0 0 0 0 0 CL:0000443 "calcitonin secreting cell" 0 0 0 0 0 1 -MONDO:0004657 "disseminated chorioretinitis" 0 7 0 0 0 1 +MONDO:0004657 "disseminated chorioretinitis" 0 5 0 0 0 1 MONDO:0008462 "split lower lip" 0 1 0 0 0 0 GO:0007155 "cell adhesion" 1 0 0 0 0 0 UBERON:0005728 "extraembryonic mesoderm" 0 0 0 0 0 0 @@ -4702,7 +4711,7 @@ UBERON:0002398 "manus" 0 0 0 0 0 1 MONDO:0023134 "febrile ulceronecrotic mucha-habermann disease" 1 4 0 0 0 0 MONDO:0023282 "granulomatous hypophysitis" 1 1 0 0 0 0 UBERON:0010221 "laryngeal associated mesenchyme" 0 0 0 0 0 0 -MONDO:0000327 "Buruli ulcer disease" 1 7 0 0 0 1 +MONDO:0000327 "Buruli ulcer disease" 1 6 0 0 0 1 MONDO:0010022 "senile plaque formation" 0 1 0 0 0 0 MONDO:0006130 "central nervous system neoplasm" 1 2 0 0 0 1 MONDO:0100212 "IFAP syndrome" 0 1 0 0 0 0 @@ -4712,7 +4721,7 @@ ENVO:02500014 "forest process" 0 0 0 0 0 1 MONDO:0004089 "basaloid carcinoma of the penis" 1 4 0 0 0 1 MONDO:0020175 "malignant tumor of palpebral epidermis" 1 3 0 0 0 1 UBERON:0001605 "ciliary muscle" 0 0 0 0 0 0 -MONDO:0001598 "benign lymphoepithelial lesion of salivary gland" 1 6 0 0 0 0 +MONDO:0001598 "benign lymphoepithelial lesion of salivary gland" 1 5 0 0 0 0 NCBITaxon:186623 "Actinopteri" 0 1 0 0 0 0 MONDO:0008038 "ataxia-pancytopenia syndrome" 1 7 0 0 0 0 NCBITaxon:119093 "Trichuridae" 0 1 0 0 0 0 @@ -4746,7 +4755,7 @@ HP:0006000 "Ureteral obstruction" 1 4 0 0 0 0 MONDO:0014613 "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3" 1 3 0 0 0 1 MONDO:0015217 "non-syndromic developmental defect of the eye" 1 1 0 0 0 1 http://identifiers.org/hgnc/5033 "HNRNPA2B1" 0 0 0 0 0 0 -MONDO:0012625 "retinitis pigmentosa 37" 1 6 0 0 0 1 +MONDO:0012625 "retinitis pigmentosa 37" 1 5 0 0 0 1 CL:1000325 "jejunal goblet cell" 1 1 0 0 0 1 MONDO:0030977 "neuropathy, hereditary motor, with myopathic features" 0 1 0 0 0 0 MONDO:0033571 "obsolete skeletal muscle glycogen content and metabolism quantitative trait locus" 0 1 0 0 0 0 @@ -4758,7 +4767,7 @@ MONDO:0006481 "ureter carcinoma" 1 5 0 0 0 1 HP:0002475 "Myelomeningocele" 1 5 0 0 0 0 UBERON:8410056 "capillary of anorectum" 0 0 0 0 0 1 CHEBI:47867 "indicator" 1 0 0 0 0 0 -MONDO:0006683 "brachial plexus neuropathy" 1 8 0 0 0 1 +MONDO:0006683 "brachial plexus neuropathy" 1 7 0 0 0 1 UBERON:0003842 "neural tube lumen" 0 0 0 0 0 1 MONDO:0012205 "autosomal dominant striatal neurodegeneration type 1" 1 2 0 0 0 1 MONDO:0003185 "adenoid cystic breast carcinoma" 1 5 0 0 0 1 @@ -4784,7 +4793,7 @@ MONDO:0005468 "hypotensive disorder" 1 8 0 0 0 0 MONDO:0000108 "bacteremia, susceptibility" 0 1 0 0 0 1 SO:0000300 "recombination_feature_of_rearranged_gene" 1 0 0 0 0 0 FOODON:03000005 "obsolete: Indian prawn"@en 0 0 0 0 0 0 -MONDO:0100010 "tendinopathy" 1 2 0 0 0 1 +MONDO:0100010 "tendinopathy" 1 3 0 0 0 1 IAO:8000010 "exclusion subset ontology module"@en 1 0 0 0 0 0 MONDO:0012656 "lethal congenital contracture syndrome 3" 1 10 0 0 0 1 MONDO:0015485 "primary hereditary glaucoma" 0 1 0 0 0 0 @@ -4795,7 +4804,7 @@ http://identifiers.org/hgnc/28852 "SYCE1" 0 0 0 0 0 0 MONDO:0015192 "obsolete unclassified intestinal pseudoobstruction" 0 3 0 0 0 0 MONDO:0019993 "congenital renal artery stenosis" 1 3 0 0 0 0 MONDO:0004142 "lung combined large cell neuroendocrine carcinoma" 1 3 0 0 0 0 -MONDO:0009131 "Riley-Day syndrome" 1 10 0 0 0 0 +MONDO:0009131 "Riley-Day syndrome" 1 9 0 0 0 0 http://identifiers.org/hgnc/31673 "GRXCR1" 0 0 0 0 0 0 MONDO:0001233 "orbital tenonitis" 0 4 0 0 0 0 PATO:0000647 "necrotic" 1 0 0 0 0 0 @@ -4808,13 +4817,13 @@ FOODON:00001257 "milk or milk based food product"@en 0 0 0 0 0 0 MONDO:0007594 "factor 5 excess with spontaneous thrombosis" 0 3 0 0 0 0 UBERON:0009550 "endoderm of foregut-midgut junction" 0 0 0 0 0 1 MONDO:0007135 "nonsyndromic congenital nail disorder 6" 0 6 0 0 0 0 -MONDO:0009693 "plasma cell myeloma" 1 16 0 0 0 1 +MONDO:0009693 "plasma cell myeloma" 1 15 0 0 0 1 MONDO:0003056 "lymphoplasmacyte-rich meningioma" 1 4 0 0 0 0 GO:0046390 "ribose phosphate biosynthetic process" 1 0 0 0 0 0 MONDO:0004832 "esophagus leiomyoma" 1 4 0 0 0 1 GO:0023061 "signal release" 1 0 0 0 0 1 MONDO:0014365 "spermatogenic failure 13" 1 4 0 0 0 1 -MONDO:0001210 "enophthalmos" 1 10 0 0 0 0 +MONDO:0001210 "enophthalmos" 1 8 0 0 0 0 UBERON:0015757 "heterogeneous tissue" 0 0 0 0 0 0 UBERON:0010075 "sacral neural crest" 0 0 0 0 0 0 http://identifiers.org/hgnc/1442 "CALM1" 0 0 0 0 0 0 @@ -4828,7 +4837,7 @@ MONDO:0000864 "obsolete congenital myopathy" 0 0 0 0 0 0 CHEBI:58095 "L-phenylalanine zwitterion" 1 0 0 0 0 0 MONDO:0016167 "optic pathway glioma" 1 5 0 0 0 1 MONDO:0013568 "sick sinus syndrome 3, susceptibility to" 1 2 0 0 0 1 -MONDO:0017648 "Sydenham chorea" 1 5 0 0 0 0 +MONDO:0017648 "Sydenham chorea" 1 3 0 0 0 0 MONDO:0008285 "polyps, multiple and recurrent inflammatory fibroid, gastrointestinal" 0 3 0 0 0 0 CL:0002543 "vein endothelial cell" 1 2 0 0 0 1 HP:0000939 "Osteoporosis" 1 3 0 0 0 0 @@ -4842,7 +4851,7 @@ MONDO:0019682 "congenital sialidosis type 2" 0 2 0 0 0 0 MONDO:0018339 "PrP systemic amyloidosis" 1 4 0 0 0 0 MONDO:0022603 "brachydactyly tibial hypoplasia" 0 1 0 0 0 0 MONDO:0016143 "qualitative or quantitative defects of gamma-sarcoglycan" 0 1 0 0 0 1 -MONDO:0003939 "muscle tissue disorder" 1 1 0 0 0 1 +MONDO:0003939 "muscle tissue disorder" 1 3 0 0 0 1 UBERON:0002025 "stratum basale of epidermis" 0 0 0 0 0 1 MONDO:0015312 "choanal atresia, unilateral" 1 3 0 0 0 0 http://identifiers.org/hgnc/9477 "PRSS12" 0 0 0 0 0 0 @@ -4865,20 +4874,20 @@ UBERON:0000030 "lamina propria" 0 0 0 0 0 0 http://identifiers.org/hgnc/12637 "KDM6A" 0 0 0 0 0 0 MONDO:0004050 "telangiectatic osteogenic sarcoma" 1 5 0 0 0 0 MONDO:0014073 "dilated cardiomyopathy 1II" 1 4 0 0 0 1 -MONDO:0011026 "autosomal recessive congenital ichthyosis 4A" 1 6 0 0 0 1 +MONDO:0011026 "autosomal recessive congenital ichthyosis 4A" 1 5 0 0 0 1 MONDO:0022654 "cardiomyopathy hypogonadism collagenoma syndrome" 0 1 0 0 0 0 MONDO:0011053 "intellectual disability-sparse hair-brachydactyly syndrome" 1 6 0 0 0 0 MONDO:0014582 "congenital myasthenic syndrome 2C" 1 4 0 0 0 0 MONDO:0022733 "choreoacanthocytosis amyotrophic" 0 1 0 0 0 0 MONDO:0019268 "epidermal disease" 1 2 0 0 0 0 -MONDO:0021003 "polydactyly" 1 16 0 0 0 1 +MONDO:0021003 "polydactyly" 1 11 0 0 0 1 MONDO:0019050 "inherited hemoglobinopathy" 1 28 0 0 0 1 HP:0006504 "obsolete Anomaly of the limb diaphyses morphology" 0 0 0 0 0 0 CL:0002574 "stromal cell of pancreas" 1 0 0 0 0 1 MONDO:0024270 "parasitic intestinal disorder" 1 2 0 0 0 1 MONDO:0014491 "immunodeficiency 37" 1 2 0 0 0 1 MONDO:0008664 "obsolete autosomal dominant neovascular inflammatory vitreoretinopathy" 0 0 0 0 0 0 -MONDO:0600029 "restrictive pulmonary disease" 1 4 0 0 0 0 +MONDO:0600029 "restrictive pulmonary disease" 1 3 0 0 0 0 UBERON:0005626 "ventral mesogastrium" 0 0 0 0 0 0 CHR:9606-chr22q13 "22q13 (Human)" 0 0 0 0 0 0 MONDO:0100136 "obsolete Fanconia anemia complementation group M" 1 0 0 0 0 0 @@ -4900,19 +4909,19 @@ GO:0051176 "positive regulation of sulfur metabolic process" 1 0 0 0 0 1 MONDO:0007977 "mesomelic dysplasia, Kantaputra type" 1 7 0 0 0 0 MONDO:0011175 "Friedreich ataxia 2" 1 5 0 0 0 0 GO:0010623 "programmed cell death involved in cell development" 1 0 0 0 0 1 -MONDO:0005219 "breast fibrocystic disease" 1 8 0 0 0 0 +MONDO:0005219 "breast fibrocystic disease" 1 6 0 0 0 0 MONDO:0000350 "obsolete Charcot-Marie-Tooth disease intermediate type" 0 0 0 0 0 0 -MONDO:0001463 "splenic flexure cancer" 1 5 0 0 0 1 +MONDO:0001463 "splenic flexure cancer" 1 4 0 0 0 1 MONDO:0000076 "obsolete neuropathy, hereditary sensory and autonomic" 0 0 0 0 0 0 NCBITaxon:112252 "Fungi incertae sedis" 0 1 0 0 0 0 CL:0000040 "monoblast" 1 2 0 0 0 0 http://identifiers.org/hgnc/12829 "XRCC2" 0 0 0 0 0 0 MONDO:0006172 "conjunctival nevus" 1 5 0 0 0 0 -MONDO:0015450 "triatrial heart" 1 6 0 0 0 0 -MONDO:0012977 "autosomal recessive nonsyndromic hearing loss 1B" 1 7 0 0 0 1 +MONDO:0015450 "triatrial heart" 1 5 0 0 0 0 +MONDO:0012977 "autosomal recessive nonsyndromic hearing loss 1B" 1 6 0 0 0 1 MONDO:0005383 "panic disorder" 1 10 0 0 0 0 CHR:9606-chr13p "13p (Human)" 0 0 0 0 0 0 -MONDO:0018667 "pleural empyema" 1 7 0 0 0 0 +MONDO:0018667 "pleural empyema" 1 5 0 0 0 0 MONDO:0003288 "bizarre leiomyoma" 1 4 0 0 0 0 MONDO:0015523 "epithelioid hemangioendothelioma" 1 11 0 0 0 0 UBERON:0010498 "pseudostratified columnar epithelium" 0 0 0 0 0 0 @@ -4920,11 +4929,11 @@ MONDO:0006082 "anal squamous cell carcinoma" 1 6 0 0 0 1 http://identifiers.org/hgnc/6391 "KIF22" 0 0 0 0 0 0 MONDO:0009275 "neonatal hemochromatosis" 1 7 0 0 0 0 MONDO:0017912 "X-linked pure spastic paraplegia" 0 2 0 0 0 0 -MONDO:0002039 "cognitive disorder" 1 7 0 0 0 1 +MONDO:0002039 "cognitive disorder" 1 6 0 0 0 1 MONDO:0018686 "acquired Creutzfeldt-Jakob disease" 1 5 0 0 0 1 MONDO:0018313 "obsolete uveal melanoma" 0 0 0 0 0 0 GO:0045821 "positive regulation of glycolytic process" 1 0 0 0 0 1 -MONDO:0002378 "dermoid cyst" 1 10 0 0 0 0 +MONDO:0002378 "dermoid cyst" 1 9 0 0 0 0 NCBITaxon:6935 "Ixodida" 0 1 0 0 0 0 MONDO:0008186 "pancytopenia and occlusive vascular disease" 0 3 0 0 0 0 GO:0033059 "cellular pigmentation" 1 0 0 0 0 0 @@ -4951,11 +4960,11 @@ MONDO:0015465 "craniometaphyseal dysplasia" 1 12 0 0 0 0 NCBITaxon:426439 "Haemaphysalinae" 0 1 0 0 0 0 http://identifiers.org/hgnc/3823 "FOXP1" 0 0 0 0 0 0 MONDO:0017049 "hypomyelination neuropathy-arthrogryposis syndrome" 1 4 0 0 0 0 -MONDO:0001206 "aqueous misdirection" 0 3 0 0 0 0 +MONDO:0001206 "aqueous misdirection" 0 2 0 0 0 0 MONDO:0009073 "Ritscher-Schinzel syndrome 1" 1 4 0 0 0 1 MONDO:0009580 "intellectual disability, autosomal recessive 1" 1 3 0 0 0 1 CHR:9606-chr20q13.2-q13.3 "20q13.2-q13.3 (Human)" 0 0 0 0 0 0 -MONDO:0021095 "parkinsonian disorder" 1 1 0 0 0 0 +MONDO:0021095 "parkinsonian disorder" 1 2 0 0 0 0 HP:0001733 "Pancreatitis" 1 3 0 0 0 0 MONDO:0017930 "mixed sclerosing bone dystrophy with extra-skeletal manifestations" 0 2 0 0 0 0 MONDO:0004960 "monoclonal gammopathy" 1 9 0 0 0 0 @@ -4971,7 +4980,7 @@ MONDO:0017799 "Meigs syndrome" 1 8 0 0 0 0 ECTO:9001943 "exposure to food acidity regulator" 1 0 0 0 0 1 MONDO:0100357 "non-classic presentation" 1 0 0 0 0 0 GO:1903019 "negative regulation of glycoprotein metabolic process" 1 0 0 0 0 1 -MONDO:0005108 "viral infectious disease" 1 12 0 0 0 1 +MONDO:0005108 "viral infectious disease" 1 13 0 0 0 1 UBERON:0005913 "zone of bone organ" 0 0 0 0 0 0 NCIT:C12664 "Abdomen" 0 0 0 0 0 0 http://identifiers.org/hgnc/10524 "SALL1" 0 0 0 0 0 0 @@ -4980,7 +4989,7 @@ MONDO:0005423 "obsolete pelvic organ prolapse" 0 0 0 0 0 0 UBERON:0004550 "gastroesophageal sphincter" 0 0 0 0 0 0 PATO:0001401 "oligopotent" 1 0 0 0 0 0 GO:0046579 "positive regulation of Ras protein signal transduction" 1 0 0 0 0 1 -MONDO:0002076 "pneumothorax" 1 7 0 0 0 0 +MONDO:0002076 "pneumothorax" 1 6 0 0 0 0 GO:0001906 "cell killing" 1 0 0 0 0 0 MONDO:0018379 "primary avascular necrosis" 0 2 0 0 0 0 MONDO:0018248 "intellectual disability-seizures-macrocephaly-obesity syndrome" 1 3 0 0 0 0 @@ -5003,7 +5012,7 @@ MONDO:0005595 "laryngeal squamous cell carcinoma" 1 8 0 0 0 1 MONDO:0010500 "intellectual disability, X-linked, syndromic 33" 1 2 0 0 0 1 UBERON:0011366 "cleidobrachialis muscle" 0 0 0 0 0 1 MONDO:0030049 "46,xx sex reversal 5" 0 1 0 0 0 0 -MONDO:0006547 "exanthem" 1 10 0 0 0 0 +MONDO:0006547 "exanthem" 1 9 0 0 0 0 GO:0140245 "regulation of translation at postsynapse" 1 0 0 0 0 1 NCBITaxon:78536 "Euphyllophyta" 0 1 0 0 0 0 MONDO:0009381 "hyperbilirubinemia, conjugated, type 3" 0 4 0 0 0 0 @@ -5036,15 +5045,17 @@ MONDO:0000616 "progesterone-receptor negative breast cancer" 0 1 0 0 0 1 CL:0002617 "adipocyte of breast" 1 1 0 0 0 1 CHEBI:33300 "pnictogen" 1 0 0 0 0 0 UBERON:0000460 "major vestibular gland" 0 0 0 0 0 0 -MONDO:0003767 "mitral valve disorder" 1 14 0 0 0 1 +MONDO:0003767 "mitral valve disorder" 1 11 0 0 0 1 MONDO:0002179 "obsolete placental choriocarcinoma" 0 0 0 0 0 0 GO:0000819 "sister chromatid segregation" 1 0 0 0 0 0 GO:0005262 "calcium channel activity" 1 0 0 0 0 0 MONDO:0001880 "median rhomboid glossitis" 0 5 0 0 0 0 MONDO:0001798 "hypermobility syndrome" 0 5 0 0 0 0 +MONDO:0700043 "syndrome caused by partial chromosomal duplication of the short arm of chromosome 9" 0 0 0 0 0 1 http://identifiers.org/hgnc/10526 "SALL2" 0 0 0 0 0 0 http://identifiers.org/hgnc/2932 "DMP1" 0 0 0 0 0 0 MONDO:0009629 "Desbuquois dysplasia 1" 1 4 0 0 0 1 +MONDO:0033552 "obsolete blood group, lewis system" 0 1 0 0 0 0 MONDO:0034189 "primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome" 0 1 0 0 0 0 GO:0048261 "negative regulation of receptor-mediated endocytosis" 1 0 0 0 0 1 MONDO:0004951 "susceptibility to HIV infection" 1 3 0 0 0 1 @@ -5053,16 +5064,16 @@ http://identifiers.org/hgnc/1304 "MRAP" 0 0 0 0 0 0 MONDO:0009281 "glutaryl-CoA dehydrogenase deficiency" 1 9 0 0 0 0 MONDO:0012206 "Czech dysplasia, metatarsal type" 1 6 0 0 0 0 MONDO:0015449 "criss-cross heart" 1 5 0 0 0 0 -MONDO:0001807 "obsolete familial combined hyperlipidemia" 1 9 0 0 0 0 +MONDO:0001807 "obsolete familial combined hyperlipidemia" 1 7 0 0 0 0 MONDO:0100038 "complex neurodevelopmental disorder" 1 0 0 0 0 0 UBERON:0010039 "food storage organ" 0 0 0 0 0 0 MONDO:0006176 "cribriform carcinoma" 1 4 0 0 0 1 MONDO:0003492 "lacrimal gland squamous cell carcinoma" 1 3 0 0 0 1 MONDO:0011691 "amyotrophic lateral sclerosis type 3" 0 5 0 0 0 0 -MONDO:0017989 "His bundle tachycardia" 1 8 0 0 0 0 +MONDO:0017989 "His bundle tachycardia" 1 7 0 0 0 0 CL:0002095 "hilus cell of ovary" 1 1 0 0 0 0 GO:0030099 "myeloid cell differentiation" 1 0 0 0 0 0 -MONDO:0004867 "upper respiratory tract disorder" 1 5 0 0 0 1 +MONDO:0004867 "upper respiratory tract disorder" 1 6 0 0 0 1 MONDO:0016966 "partial trisomy of the long arm of chromosome 16" 0 4 0 0 0 1 UBERON:0000074 "renal glomerulus" 0 0 0 0 0 0 MONDO:0014758 "radioulnar synostosis with amegakaryocytic thrombocytopenia 2" 1 2 0 0 0 1 @@ -5085,7 +5096,7 @@ MONDO:0014207 "age related macular degeneration 14" 1 2 0 0 0 0 MONDO:0015030 "sclerosing perineurioma" 0 2 0 0 0 0 MONDO:0019485 "idiopathic hemiconvulsion-hemiplegia syndrome" 1 3 0 0 0 0 UBERON:0006919 "tongue squamous epithelium" 0 0 0 0 0 1 -MONDO:0012200 "posterior polymorphous corneal dystrophy 3" 1 6 0 0 0 1 +MONDO:0012200 "posterior polymorphous corneal dystrophy 3" 1 5 0 0 0 1 UBERON:0004067 "lateral nasal prominence" 0 0 0 0 0 0 MONDO:0009444 "ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome" 1 5 0 0 0 0 UBERON:0008203 "pelvic cavity" 0 0 0 0 0 1 @@ -5097,7 +5108,7 @@ http://identifiers.org/hgnc/6388 "KIF11" 0 0 0 0 0 0 http://identifiers.org/hgnc/23785 "PIKFYVE" 0 0 0 0 0 0 MONDO:0016006 "Cockayne syndrome" 1 21 0 0 0 0 MONDO:0020260 "obsolete myasthenic syndrome with eye involvement" 0 2 0 0 0 0 -MONDO:0003105 "prostate disorder" 1 8 0 0 0 1 +MONDO:0003105 "prostate disorder" 1 7 0 0 0 1 GO:0008203 "cholesterol metabolic process" 1 0 0 0 0 0 MONDO:0044226 "obsolete defective interfering particle induction, control of" 0 1 0 0 0 0 NCBITaxon:33354 "Cimicomorpha" 0 1 0 0 0 0 @@ -5109,7 +5120,7 @@ HP:0001965 "Abnormal scalp morphology" 1 1 0 0 0 0 NCBITaxon:2732409 "Artverviricota" 0 1 0 0 0 0 MONDO:0018091 "microcephaly-brachydactyly-kyphoscoliosis syndrome" 1 6 0 0 0 0 MONDO:0034212 "methotrexate toxicity" 0 1 0 0 0 1 -MONDO:0005271 "allergic disease" 1 10 0 0 0 1 +MONDO:0005271 "allergic disease" 1 9 0 0 0 1 MONDO:0004376 "infiltrating nipple syringomatous adenoma" 1 3 0 0 0 0 UBERON:0001172 "hepatic acinus" 0 0 0 0 0 0 FOODON:00002454 "food product by quality"@en 1 0 0 0 0 0 @@ -5123,11 +5134,11 @@ http://identifiers.org/hgnc/23719 "PGAP3" 0 0 0 0 0 0 MONDO:0005905 "periodic limb movement disorder" 1 6 0 0 0 1 UBERON:0004464 "musculature of thorax" 0 0 0 0 0 1 MONDO:0006782 "hemometra" 1 6 0 0 0 0 -MONDO:0015263 "Brugada syndrome" 1 21 0 0 0 0 -MONDO:0016820 "Moyamoya disease" 1 20 0 0 0 0 +MONDO:0015263 "Brugada syndrome" 1 20 0 0 0 0 +MONDO:0016820 "Moyamoya disease" 1 19 0 0 0 0 http://identifiers.org/hgnc/23015 "FAM20A" 0 0 0 0 0 0 CL:1000322 "pancreatic goblet cell" 1 1 0 0 0 1 -MONDO:0006903 "peroneal nerve paralysis" 1 7 0 0 0 0 +MONDO:0006903 "peroneal nerve paralysis" 1 6 0 0 0 0 MONDO:0001640 "gonococcal spondylitis" 1 4 0 0 0 1 CL:0000442 "follicular dendritic cell" 1 2 0 0 0 0 MONDO:0014429 "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" 1 4 0 0 0 0 @@ -5145,7 +5156,7 @@ MONDO:0016968 "partial trisomy of the long arm of chromosome 18" 0 4 0 0 0 1 http://identifiers.org/hgnc/19351 "BICC1" 0 0 0 0 0 0 CHEBI:51374 "GABA agent" 1 0 0 0 0 0 MONDO:0003526 "obsolete lung giant cell carcinoma" 0 0 0 0 0 0 -MONDO:0013363 "chromosome 2q31.1 duplication syndrome" 0 4 0 0 0 0 +MONDO:0013363 "chromosome 2q31.1 duplication syndrome" 0 6 0 0 0 1 UBERON:0003704 "intrahepatic bile duct" 0 0 0 0 0 1 MONDO:0024548 "peeling skin syndrome 1" 1 6 0 0 0 1 UBERON:0003915 "endothelial tube" 0 0 0 0 0 1 @@ -5158,7 +5169,7 @@ UBERON:0001905 "pineal body" 0 0 0 0 0 0 UBERON:0036657 "wall of fourth ventricle" 0 0 0 0 0 1 GO:0009251 "glucan catabolic process" 1 0 0 0 0 0 MONDO:0004703 "bladder carcinoma in situ" 1 6 0 0 0 1 -MONDO:0001038 "perforated corneal ulcer" 0 5 0 0 0 0 +MONDO:0001038 "perforated corneal ulcer" 0 4 0 0 0 0 MONDO:0018622 "obsolete nut midline carcinoma" 0 0 0 0 0 0 http://identifiers.org/hgnc/9115 "PMM2" 0 0 0 0 0 0 MONDO:0016174 "paraneoplastic sensory ganglionopathy" 0 1 0 0 0 1 @@ -5166,7 +5177,7 @@ MONDO:0011697 "Waardenburg syndrome type 2C" 1 6 0 0 0 0 MONDO:0010940 "inherited susceptibility to asthma" 0 1 0 0 0 1 MONDO:0005022 "obsolete ductal breast adenocarcinoma" 0 0 0 0 0 0 CL:0002254 "epithelial cell of small intestine" 1 1 0 0 0 1 -MONDO:0001119 "premature menopause" 1 9 0 0 0 0 +MONDO:0001119 "premature menopause" 1 7 0 0 0 0 MONDO:0016817 "Meier-Gorlin syndrome" 1 15 0 0 0 0 CHEBI:22695 "base" 1 0 0 0 0 0 MONDO:0005313 "necrotizing enterocolitis" 1 8 0 0 0 0 @@ -5178,7 +5189,7 @@ http://identifiers.org/hgnc/19041 "COQ8B" 0 0 0 0 0 0 MONDO:0012011 "coronary artery disease, autosomal dominant, 1" 1 3 0 0 0 1 GO:0006282 "regulation of DNA repair" 1 0 0 0 0 1 MONDO:0017796 "obsolete ameloblastic carcinoma" 0 0 0 0 0 0 -MONDO:0018838 "lissencephaly spectrum disorders" 1 20 0 0 0 0 +MONDO:0018838 "lissencephaly spectrum disorders" 1 19 0 0 0 0 MONDO:0025371 "Parvoviridae infectious disease" 1 3 0 0 0 1 MONDO:0017811 "severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion" 0 4 0 0 0 0 MONDO:0014515 "macular dystrophy with central cone involvement" 0 2 0 0 0 0 @@ -5199,11 +5210,11 @@ FOODON:00001055 "sea water fish food product"@en 0 0 0 0 0 0 NCBITaxon:1521262 "Polypodiidae " 0 2 0 0 0 0 MONDO:0015576 "obsolete rare viral disease" 1 2 0 0 0 0 MONDO:0030867 "thrombocytopenia 7" 0 1 0 0 0 0 -MONDO:0001150 "hydrocephalus" 1 13 0 0 0 0 +MONDO:0001150 "hydrocephalus" 1 12 0 0 0 0 MONDO:0010694 "nystagmus, myoclonic" 0 4 0 0 0 0 UBERON:0005562 "thymus primordium" 0 0 0 0 0 0 http://identifiers.org/hgnc/30839 "KRT25" 0 0 0 0 0 0 -MONDO:0004577 "corneal ulcer" 1 10 0 0 0 1 +MONDO:0004577 "corneal ulcer" 1 9 0 0 0 1 MONDO:0007193 "primary biliary cholangitis 1" 0 4 0 0 0 0 MONDO:0016541 "acquired secondary polycythemia" 1 3 0 0 0 1 MONDO:0006766 "gait apraxia" 1 5 0 0 0 0 @@ -5232,8 +5243,8 @@ MONDO:0023599 "mesomelic dysplasia" 1 3 0 0 0 0 MONDO:0001095 "mediastinum neuroblastoma" 1 4 0 0 0 1 http://identifiers.org/hgnc/9966 "REST" 0 0 0 0 0 0 MONDO:0007855 "keratosis, familial actinic" 0 3 0 0 0 0 -MONDO:0001542 "common peroneal nerve lesion" 1 6 0 0 0 1 -MONDO:0006713 "corneal neovascularization" 1 10 0 0 0 0 +MONDO:0001542 "common peroneal nerve lesion" 1 4 0 0 0 1 +MONDO:0006713 "corneal neovascularization" 1 8 0 0 0 0 NCBITaxon:115425 "Cochliomyia hominivorax" 0 1 0 0 0 0 NCBITaxon:1980467 "Dobrava-Belgrade orthohantavirus" 0 1 0 0 0 0 GO:0001704 "formation of primary germ layer" 1 0 0 0 0 0 @@ -5247,7 +5258,7 @@ NCBITaxon:951 "Neorickettsia sennetsu" 0 4 0 0 0 0 GO:0004972 "NMDA glutamate receptor activity" 1 0 0 0 0 0 MONDO:0011000 "guanylate cyclase 2E" 0 1 0 0 0 0 NCBITaxon:1392 "Bacillus anthracis" 0 2 0 0 0 0 -MONDO:0001066 "late yaws" 1 9 0 0 0 0 +MONDO:0001066 "late yaws" 1 7 0 0 0 0 http://identifiers.org/hgnc/236 "ADCY5" 0 0 0 0 0 0 UBERON:0003129 "skull" 0 0 0 0 0 0 http://identifiers.org/hgnc/237 "ADCY6" 0 0 0 0 0 0 @@ -5294,8 +5305,8 @@ PATO:0000125 "mass" 1 0 0 0 0 0 http://identifiers.org/hgnc/29040 "SZT2" 0 0 0 0 0 0 MONDO:0003018 "obsolete myotonic disease" 0 0 0 0 0 0 MONDO:0003976 "malignant type AB thymoma" 1 4 0 0 0 1 -MONDO:0004732 "kidney carcinoma in situ" 1 5 0 0 0 1 -MONDO:0011060 "early-onset non-syndromic cataract" 1 49 0 0 0 0 +MONDO:0004732 "kidney carcinoma in situ" 1 4 0 0 0 1 +MONDO:0011060 "early-onset non-syndromic cataract" 1 48 0 0 0 0 MONDO:0000279 "obsolete Venezuelan hemorrhagic fever" 0 0 0 0 0 0 CHEBI:59163 "biomarker" 1 0 0 0 0 0 http://identifiers.org/hgnc/26031 "PIGV" 0 0 0 0 0 0 @@ -5306,7 +5317,7 @@ MONDO:0023098 "extrasystoles short stature hyperpigmentation microcephaly" 0 1 0 MONDO:0002907 "intracranial thrombosis" 1 6 0 0 0 0 MONDO:0010568 "Aicardi syndrome" 1 10 0 0 0 0 GO:0008610 "lipid biosynthetic process" 1 0 0 0 0 0 -MONDO:0024481 "skin appendage disorder" 1 2 0 0 0 1 +MONDO:0024481 "skin appendage disorder" 1 3 0 0 0 1 MONDO:0006406 "sarcomatoid carcinoma" 1 7 0 0 0 1 http://identifiers.org/hgnc/29937 "CCDC65" 0 0 0 0 0 0 MONDO:0044263 "obsolete lutheran suppressor, x-linked" 1 1 0 0 0 0 @@ -5314,12 +5325,12 @@ SO:0000803 "assortment_derived_aneuploid" 1 0 0 0 0 0 http://identifiers.org/hgnc/21157 "GTF2H5" 0 0 0 0 0 0 MONDO:0014509 "vitelliform macular dystrophy 5" 1 3 0 0 0 1 MONDO:0017926 "multiple paragangliomas associated with polycythemia" 0 2 0 0 0 0 -MONDO:0016220 "congenital temporomandibular joint ankylosis" 1 3 0 0 0 0 -MONDO:0001235 "appendix cancer" 1 7 0 0 0 1 +MONDO:0016220 "congenital temporomandibular joint ankylosis" 1 2 0 0 0 0 +MONDO:0001235 "appendix cancer" 1 6 0 0 0 1 MONDO:0018212 "familial cervical artery dissection" 1 4 0 0 0 1 CHEBI:83876 "cationic sphingoid" 1 0 0 0 0 0 MONDO:0018324 "adult-onset myasthenia gravis" 1 2 0 0 0 1 -MONDO:0013738 "autosomal recessive nonsyndromic hearing loss 96" 1 3 0 0 0 0 +MONDO:0013738 "autosomal recessive nonsyndromic hearing loss 96" 1 2 0 0 0 0 MONDO:0010277 "syndromic X-linked intellectual disability Shashi type" 1 9 0 0 0 0 MONDO:0024622 "thyroid gland adenocarcinoma" 1 2 0 0 0 1 MONDO:0020147 "anophthalmia-microphthalmia syndrome" 0 5 0 0 0 0 @@ -5341,7 +5352,7 @@ UBERON:0009655 "auricular artery" 0 0 0 0 0 1 MONDO:0012382 "hyperinsulinemic hypoglycemia, familial, 4" 1 11 0 0 0 1 MONDO:0018950 "3-methylcrotonyl-CoA carboxylase deficiency" 1 12 0 0 0 0 MONDO:0022394 "cervical intraepithelial neoplasia" 0 4 0 0 0 0 -MONDO:0012180 "arrhythmogenic right ventricular dysplasia 9" 1 6 0 0 0 1 +MONDO:0012180 "arrhythmogenic right ventricular dysplasia 9" 1 5 0 0 0 1 MONDO:0002629 "bone osteosarcoma" 1 10 0 0 0 0 MONDO:0011922 "nonimmune chronic idiopathic neutropenia of adults" 0 5 0 0 0 0 MONDO:0005241 "obsolete adrenocortical carcinoma" 0 0 0 0 0 0 @@ -5389,7 +5400,7 @@ MONDO:0100055 "intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearr MONDO:0004757 "chronic ethmoidal sinusitis" 1 6 0 0 0 1 MONDO:0005851 "Miller Fisher syndrome" 1 10 0 0 0 0 CL:2000067 "cardiac atrium fibroblast" 1 0 0 0 0 1 -MONDO:0018841 "congenital bile acid synthesis defect" 0 6 0 0 0 0 +MONDO:0018841 "congenital bile acid synthesis defect" 0 5 0 0 0 0 MONDO:0017185 "autosomal dominant hyperinsulinism due to Kir6.2 deficiency" 1 6 0 0 0 0 http://identifiers.org/hgnc/7693 "NDUFA9" 0 0 0 0 0 0 MONDO:0013131 "polycystic kidney disease 2" 1 6 0 0 0 1 @@ -5404,7 +5415,7 @@ MONDO:0010927 "orofacial cleft 3" 0 5 0 0 0 0 MONDO:0013522 "dyskeratosis congenita, autosomal dominant 3" 1 5 0 0 0 1 MONDO:0005600 "obsolete ovarian adenocarcinoma" 0 0 0 0 0 0 MONDO:0018278 "congenital muscular dystrophy with intellectual disability" 0 7 0 0 0 0 -MONDO:0001819 "multiple cranial nerve palsy" 0 5 0 0 0 0 +MONDO:0001819 "multiple cranial nerve palsy" 0 4 0 0 0 0 GO:0099003 "vesicle-mediated transport in synapse" 1 0 0 0 0 1 MONDO:0006025 "autosomal recessive disease" 1 5 0 0 0 1 http://identifiers.org/hgnc/1246 "C1R" 0 0 0 0 0 0 @@ -5429,9 +5440,9 @@ MONDO:0007675 "glutamic acid decarboxylase, brain, membrane form" 0 1 0 0 0 0 NCBITaxon:5234 "Tremellales" 0 2 0 0 0 0 ENVO:01001838 "arid biome"@en 1 0 0 0 0 1 http://identifiers.org/hgnc/23801 "SIPA1L3" 0 0 0 0 0 0 -MONDO:0021129 "microphthalmia" 1 28 0 0 0 0 +MONDO:0021129 "microphthalmia" 1 27 0 0 0 0 MONDO:0019151 "oligocone trichromacy" 1 4 0 0 0 0 -MONDO:0011849 "psoriatic arthritis" 1 10 0 0 0 1 +MONDO:0011849 "psoriatic arthritis" 1 8 0 0 0 1 MONDO:0014181 "amyotrophic lateral sclerosis type 20" 1 4 0 0 0 1 MONDO:0006079 "ameloblastic carcinoma" 1 6 0 0 0 0 MONDO:0005858 "mucinous cystadenocarcinoma" 1 6 0 0 0 0 @@ -5455,7 +5466,7 @@ HP:0100247 "Recurrent singultus" 1 4 0 0 0 0 MONDO:0031439 "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" 0 1 0 0 0 0 GO:0071310 "cellular response to organic substance" 1 0 0 0 0 0 HP:0001663 "Ventricular fibrillation" 1 3 0 0 0 0 -MONDO:0004833 "plantar fasciitis" 1 6 0 0 0 0 +MONDO:0004833 "plantar fasciitis" 1 5 0 0 0 0 MONDO:0009198 "congenital lethal erythroderma" 1 6 0 0 0 0 MONDO:0012411 "giant axonal neuropathy 2" 1 7 0 0 0 1 MONDO:0025381 "avian leukosis" 1 2 0 0 0 0 @@ -5468,7 +5479,7 @@ MONDO:0014583 "congenital myasthenic syndrome 3A" 1 5 0 0 0 0 MONDO:0018023 "hemoglobin M disease" 0 8 0 0 0 0 MONDO:0016675 "distal arthrogryposis type 10" 0 7 0 0 0 0 GO:0090087 "regulation of peptide transport" 1 0 0 0 0 1 -MONDO:0001786 "uterine inflammatory disease" 0 5 0 0 0 0 +MONDO:0001786 "uterine inflammatory disease" 0 4 0 0 0 0 CL:0000148 "melanocyte" 1 4 0 0 0 1 UBERON:0004823 "intrahepatic bile duct epithelium" 0 0 0 0 0 1 NCBITaxon:43786 "Culicomorpha" 0 1 0 0 0 0 @@ -5477,10 +5488,11 @@ UBERON:0002394 "bile duct" 0 0 0 0 0 1 http://identifiers.org/hgnc/18292 "CFC1" 0 0 0 0 0 0 http://identifiers.org/hgnc/1100 "BRCA1" 0 0 0 0 0 0 MONDO:0008250 "isolated growth hormone deficiency type II" 0 9 0 0 0 0 -MONDO:0011799 "autosomal recessive nonsyndromic hearing loss 33" 1 5 0 0 0 0 +MONDO:0011799 "autosomal recessive nonsyndromic hearing loss 33" 1 4 0 0 0 0 MONDO:0015491 "immune complex mediated vasculitis" 0 1 0 0 0 0 ENVO:01001687 "mass of solid material"@en 1 0 0 0 0 1 -MONDO:0011762 "autosomal recessive nonsyndromic hearing loss 22" 1 5 0 0 0 1 +MONDO:0060593 "obsolete actn3 deficiency" 0 1 0 0 0 0 +MONDO:0011762 "autosomal recessive nonsyndromic hearing loss 22" 1 4 0 0 0 1 MONDO:0002717 "spinal cord intramedullary teratoma" 0 3 0 0 0 0 MONDO:0015788 "symptomatic form of hemophilia B in female carriers" 1 3 0 0 0 0 MONDO:0000943 "acute hydrops keratoconus" 0 4 0 0 0 0 @@ -5494,7 +5506,7 @@ MONDO:0001381 "bladder lymphoma" 1 3 0 0 0 1 NCBITaxon:3754 "Prunus" 0 2 0 0 0 0 http://identifiers.org/hgnc/11875 "TMPO" 0 0 0 0 0 0 NCIT:C19683 "Personal Behavior" 1 0 0 0 0 0 -MONDO:0001476 "coloboma" 1 11 0 0 0 0 +MONDO:0001476 "coloboma" 1 10 0 0 0 0 MONDO:0021229 "ciliary body neoplasm" 1 2 0 0 0 1 MONDO:0000510 "synucleinopathy" 1 3 0 0 0 1 GO:0055118 "negative regulation of cardiac muscle contraction" 1 0 0 0 0 1 @@ -5516,11 +5528,11 @@ GO:0051223 "regulation of protein transport" 1 0 0 0 0 1 MONDO:0016304 "classic pantothenate kinase-associated neurodegeneration" 0 3 0 0 0 0 UBERON:0001896 "medulla oblongata" 0 0 0 0 0 0 MONDO:0019974 "obsolete postencephalitic parkinsonism" 0 0 0 0 0 0 -MONDO:0004838 "orthostatic proteinuria" 0 4 0 0 0 0 +MONDO:0004838 "orthostatic proteinuria" 0 3 0 0 0 0 MONDO:0007422 "keratoderma hereditarium mutilans" 0 8 0 0 0 0 MONDO:0007530 "electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon" 0 1 0 0 0 0 UBERON:0001162 "cardia of stomach" 0 0 0 0 0 1 -MONDO:0013482 "Meckel syndrome, type 8" 1 5 0 0 0 1 +MONDO:0013482 "Meckel syndrome, type 8" 1 4 0 0 0 1 MONDO:0005443 "obsolete type 2 diabetes nephropathy" 0 0 0 0 0 0 UBERON:0006304 "future trigeminal ganglion" 0 0 0 0 0 0 MONDO:0018150 "Gaucher disease" 1 16 0 0 0 0 @@ -5530,6 +5542,7 @@ MONDO:0003352 "colon sarcoma" 1 3 0 0 0 1 CHEBI:35471 "psychotropic drug" 1 0 0 0 0 0 GO:0050680 "negative regulation of epithelial cell proliferation" 1 0 0 0 0 1 UBERON:0005838 "fasciculus of brain" 0 0 0 0 0 1 +MONDO:0007822 "obsolete incisors, long upper central" 0 1 0 0 0 0 MONDO:0014696 "cerebrooculofacioskeletal syndrome 3" 0 5 0 0 0 0 NCBITaxon:10088 "Mus " 0 1 0 0 0 0 MONDO:0014660 "microcephaly 15, primary, autosomal recessive" 0 4 0 0 0 0 @@ -5541,12 +5554,12 @@ GO:0022834 "ligand-gated channel activity" 1 0 0 0 0 0 MONDO:0013778 "pseudohypoaldosteronism type 2C" 1 6 0 0 0 1 GO:0015276 "ligand-gated ion channel activity" 1 0 0 0 0 0 MONDO:0013777 "pseudohypoaldosteronism type 2B" 1 6 0 0 0 1 -MONDO:0018940 "congenital myasthenic syndrome" 1 39 0 0 0 0 +MONDO:0018940 "congenital myasthenic syndrome" 1 38 0 0 0 0 http://identifiers.org/hgnc/13444 "SLC2A10" 0 0 0 0 0 0 -MONDO:0001380 "bladder dome cancer" 1 6 0 0 0 1 +MONDO:0001380 "bladder dome cancer" 1 5 0 0 0 1 MONDO:0002406 "dermatitis" 1 8 0 0 0 1 -MONDO:0019087 "cholangiocarcinoma" 1 18 0 0 0 1 -MONDO:0005821 "late congenital syphilis" 0 11 0 0 0 0 +MONDO:0019087 "cholangiocarcinoma" 1 17 0 0 0 1 +MONDO:0005821 "late congenital syphilis" 0 7 0 0 0 0 MONDO:0004595 "acute pulmonary heart disease" 0 4 0 0 0 0 MONDO:0015606 "Xp22.3 microdeletion syndrome" 1 5 0 0 0 1 MONDO:0003852 "ovarian solid teratoma" 1 3 0 0 0 0 @@ -5558,7 +5571,7 @@ GO:0032368 "regulation of lipid transport" 1 0 0 0 0 1 MONDO:0005100 "systemic sclerosis" 1 16 0 0 0 0 MONDO:0012209 "branchiogenic deafness syndrome" 1 6 0 0 0 0 MONDO:0014394 "Diamond-Blackfan anemia 13" 1 3 0 0 0 1 -MONDO:0009525 "split hand-foot malformation 3" 1 11 0 0 0 0 +MONDO:0009525 "split hand-foot malformation 3" 1 9 0 0 0 0 MONDO:0022171 "chromhidrosis" 1 4 0 0 0 0 http://identifiers.org/hgnc/7549 "MYBPC1" 0 0 0 0 0 0 MONDO:0003206 "acquired hemangioma" 1 3 0 0 0 1 @@ -5581,7 +5594,7 @@ MONDO:0004213 "vulvar non-keratinizing squamous cell carcinoma" 1 3 0 0 0 0 MONDO:0000598 "aphasia" 1 2 0 0 0 0 GO:1904729 "regulation of intestinal lipid absorption" 1 0 0 0 0 1 http://identifiers.org/hgnc/6842 "MAP2K2" 0 0 0 0 0 0 -MONDO:0005615 "plasmacytoma" 1 14 0 0 0 0 +MONDO:0005615 "plasmacytoma" 1 13 0 0 0 0 NCBITaxon:302011 "Rickettsia conorii subsp. caspia" 0 2 0 0 0 0 UBERON:0005631 "extraembryonic membrane" 0 0 0 0 0 0 NCBITaxon:116706 "Heterotremata" 0 1 0 0 0 0 @@ -5624,7 +5637,7 @@ MONDO:0023042 "ectodermal dysplasia margarita type" 0 1 0 0 0 0 UBERON:0006314 "bodily fluid" 1 0 0 0 0 1 MONDO:0001241 "transient neonatal neutropenia" 0 5 0 0 0 0 HP:0006705 "Abnormal atrioventricular valve morphology" 1 1 0 0 0 0 -MONDO:0002238 "ascending colon cancer" 1 5 0 0 0 1 +MONDO:0002238 "ascending colon cancer" 1 4 0 0 0 1 GO:0045787 "positive regulation of cell cycle" 1 0 0 0 0 1 MONDO:0008477 "spondylometaphyseal dysplasia, Kozlowski type" 1 6 0 0 0 1 CHEBI:37246 "elemental sodium" 0 0 0 0 0 0 @@ -5639,7 +5652,7 @@ PATO:0000588 "vestigial" 1 0 0 0 0 0 CL:0002252 "epithelial cell of esophagus" 1 1 0 0 0 1 GO:0060124 "positive regulation of growth hormone secretion" 1 0 0 0 0 1 UBERON:0002051 "epithelium of bronchiole" 0 0 0 0 0 1 -MONDO:0010662 "paraplegia-intellectual disability-hyperkeratosis syndrome" 1 6 0 0 0 0 +MONDO:0010662 "paraplegia-intellectual disability-hyperkeratosis syndrome" 1 5 0 0 0 0 MONDO:0700017 "chromosome 10 disorder" 1 0 0 0 0 1 http://identifiers.org/hgnc/6840 "MAP2K1" 0 0 0 0 0 0 MONDO:0017628 "myospherulosis" 0 4 0 0 0 0 @@ -5662,7 +5675,7 @@ MONDO:0012917 "specific language impairment 4" 0 3 0 0 0 0 MONDO:0010880 "telangiectasia, hereditary hemorrhagic, type 2" 1 3 0 0 0 1 http://identifiers.org/hgnc/24912 "LARP7" 0 0 0 0 0 0 MONDO:0013818 "trichohepatoenteric syndrome 2" 1 4 0 0 0 1 -MONDO:0001109 "petrositis" 1 15 0 0 0 1 +MONDO:0001109 "petrositis" 1 9 0 0 0 1 GO:0070330 "aromatase activity" 1 0 0 0 0 0 MONDO:0033954 "monoclonal mast cell activation syndrome" 0 1 0 0 0 0 http://identifiers.org/hgnc/15979 "TP63" 0 0 0 0 0 0 @@ -5679,11 +5692,11 @@ HP:0009125 "Lipodystrophy" 1 3 0 0 0 0 MONDO:0002713 "epidural spinal canal neoplasm" 1 5 0 0 0 1 GO:0002232 "leukocyte chemotaxis involved in inflammatory response" 1 0 0 0 0 1 MONDO:0012208 "congenital reticular ichthyosiform erythroderma" 0 5 0 0 0 0 -MONDO:0001802 "acute tympanitis" 0 7 0 0 0 0 +MONDO:0001802 "acute tympanitis" 0 4 0 0 0 0 CHEBI:76969 "bacterial metabolite" 1 0 0 0 0 0 MONDO:0019222 "inborn disorder of methionine cycle and sulfur amino acid metabolism" 1 5 0 0 0 1 HP:0004332 "Abnormal lymphocyte morphology" 1 2 0 0 0 0 -MONDO:0020099 "inherited sideroblastic anemia" 0 3 0 0 0 1 +MONDO:0020099 "inherited sideroblastic anemia" 0 2 0 0 0 1 MONDO:0054831 "Coffin-Siris syndrome 7" 1 2 0 0 0 0 UBERON:0002377 "muscle of neck" 0 0 0 0 0 1 MONDO:0022889 "craniostenosis with congenital heart disease intellectual disability" 0 1 0 0 0 0 @@ -5693,7 +5706,7 @@ MONDO:0005847 "middle lobe syndrome" 1 5 0 0 0 0 http://identifiers.org/hgnc/9143 "PHOX2B" 0 0 0 0 0 0 HP:0000568 "Microphthalmia" 1 7 0 0 0 0 http://identifiers.org/hgnc/6122 "IRF7" 0 0 0 0 0 0 -MONDO:0010950 "type 1 diabetes mellitus 8" 1 5 0 0 0 0 +MONDO:0010950 "type 1 diabetes mellitus 8" 1 4 0 0 0 0 MONDO:0032688 "polymicrogyria with or without vascular-type ehlers-danlos syndrome" 0 1 0 0 0 0 http://identifiers.org/hgnc/6121 "IRF6" 0 0 0 0 0 0 http://identifiers.org/hgnc/24725 "FAM111A" 0 0 0 0 0 0 @@ -5702,7 +5715,7 @@ MONDO:0010376 "obsolete Brooks-Wisniewski-brown syndrome" 0 0 0 0 0 0 MONDO:0006546 "erythematosquamous dermatosis" 1 7 0 0 0 0 CL:0000055 "non-terminally differentiated cell" 1 2 0 0 0 0 UBERON:0005022 "mucosa of nasopharynx" 0 0 0 0 0 1 -MONDO:0013169 "chromosome 5p13 duplication syndrome" 1 6 0 0 0 1 +MONDO:0013169 "chromosome 5p13 duplication syndrome" 1 5 0 0 0 1 GO:0016125 "sterol metabolic process" 1 0 0 0 0 0 MONDO:0001060 "microinvasive gastric cancer" 1 4 0 0 0 0 http://identifiers.org/hgnc/3233 "MEGF8" 0 0 0 0 0 0 @@ -5713,7 +5726,7 @@ GO:0009144 "purine nucleoside triphosphate metabolic process" 1 0 0 0 0 0 CL:0002615 "adipocyte of omentum tissue" 1 0 0 0 0 1 MONDO:0003771 "jugular foramen meningioma" 1 3 0 0 0 1 NCBITaxon:1980410 "Bunyavirales" 0 1 0 0 0 0 -MONDO:0012083 "autosomal dominant nonsyndromic hearing loss 28" 1 6 0 0 0 1 +MONDO:0012083 "autosomal dominant nonsyndromic hearing loss 28" 1 5 0 0 0 1 MONDO:0019570 "Cockayne syndrome type 2" 1 10 0 0 0 0 UBERON:0008001 "irregular bone" 0 0 0 0 0 0 HP:0000777 "Abnormality of the thymus" 1 3 0 0 0 0 @@ -5748,30 +5761,30 @@ UBERON:0011931 "nasal hair" 0 0 0 0 0 1 MONDO:0001418 "trachea sarcoma" 1 3 0 0 0 1 CHR:9606-chr8p1 "8p1 (Human)" 0 0 0 0 0 0 MONDO:0022908 "cutis gyratum acanthosis nigricans craniosynostosis" 0 1 0 0 0 0 -MONDO:0001513 "pulsating exophthalmos" 0 5 0 0 0 0 +MONDO:0001513 "pulsating exophthalmos" 0 4 0 0 0 0 MONDO:0025699 "Coffin-Siris syndrome 12" 0 1 0 0 0 0 http://identifiers.org/hgnc/7944 "NPR2" 0 0 0 0 0 0 MONDO:0044244 "obsolete nail low-sulfur protein" 0 1 0 0 0 0 CHR:9606-chr20q "20q (Human)" 0 0 0 0 0 0 -MONDO:0022177 "chromosome 13q trisomy" 0 2 0 0 0 1 +MONDO:0022177 "chromosome 13q trisomy" 0 3 0 0 0 1 CL:0008009 "transversely striated visceral muscle cell"@en 1 0 0 0 0 1 HP:0031653 "Abnormal heart valve physiology" 1 0 0 0 0 0 MONDO:0008505 "surface antigen, glycoprotein 75" 0 1 0 0 0 0 -MONDO:0004571 "intestinal impaction" 0 6 0 0 0 0 +MONDO:0004571 "intestinal impaction" 0 4 0 0 0 0 MONDO:0011588 "platelet-type bleeding disorder 12" 1 4 0 0 0 0 HP:0000174 "Abnormal palate morphology" 1 1 0 0 0 0 MONDO:0019919 "maternal uniparental disomy of chromosome 22" 0 2 0 0 0 0 GO:0045275 "respiratory chain complex III" 1 0 0 0 0 0 MONDO:0015856 "syndromic breast hypoplasia/aplasia" 0 2 0 0 0 0 MONDO:0005553 "obsolete parathyroid disease" 0 0 0 0 0 0 -MONDO:0018881 "myelodysplastic syndrome" 1 14 0 0 0 0 +MONDO:0018881 "myelodysplastic syndrome" 1 15 0 0 0 0 UBERON:0004572 "arterial system" 0 0 0 0 0 0 http://identifiers.org/hgnc/1058 "BLM" 0 0 0 0 0 0 MONDO:0017264 "syndromic recessive X-linked ichthyosis" 1 6 0 0 0 0 MONDO:0018303 "generalized isolated dystonia" 0 2 0 0 0 1 http://identifiers.org/hgnc/21244 "LEMD2" 0 0 0 0 0 0 GO:0061337 "cardiac conduction" 1 0 0 0 0 0 -MONDO:0001128 "nasal cavity cancer" 1 6 0 0 0 1 +MONDO:0001128 "nasal cavity cancer" 1 5 0 0 0 1 MONDO:0013455 "hypertrophic cardiomyopathy 16" 1 3 0 0 0 1 UBERON:0000913 "interstitial fluid" 0 0 0 0 0 0 HP:0030875 "Abnormality of pulmonary circulation" 1 1 0 0 0 0 @@ -5787,7 +5800,6 @@ MONDO:0016827 "myopathy-growth delay-intellectual disability-hypospadias syndrom MONDO:0017646 "obsolete neurodegenerative disease with chorea" 0 2 0 0 0 0 MONDO:0013342 "hereditary spastic paraplegia 48" 1 6 0 0 0 1 NCBITaxon:12080 "Human poliovirus 1" 0 1 0 0 0 0 -MONDO:0020060 "gonosome structural anomaly" 0 1 0 0 0 0 http://identifiers.org/hgnc/18127 "TUBGCP6" 0 0 0 0 0 0 MONDO:0010308 "thrombocytopenia, X-linked, with or without dyserythropoietic anemia" 1 4 0 0 0 0 MONDO:0016522 "Kousseff syndrome" 1 6 0 0 0 0 @@ -5800,13 +5812,12 @@ UBERON:0005428 "vagal neural crest" 0 0 0 0 0 0 MONDO:0007882 "lattice degeneration of retina leading to retinal detachment" 0 3 0 0 0 0 UBERON:0007830 "pelvic girdle bone/zone" 0 0 0 0 0 1 GO:0051302 "regulation of cell division" 1 0 0 0 0 1 -MONDO:0006649 "anterior ischemic optic neuropathy" 1 9 0 0 0 0 +MONDO:0006649 "anterior ischemic optic neuropathy" 1 8 0 0 0 0 MONDO:0100205 "parainfluenza virus type 4 infectious disease" 1 1 0 0 0 1 MONDO:0004730 "speech disorder" 1 7 0 0 0 0 MONDO:0020454 "congenital complete agenesis of pericardium" 1 2 0 0 0 0 MONDO:0044924 "obsolete acute myeloid leukemia with mutated CEBPA" 0 0 0 0 0 0 MONDO:0014954 "Ehlers-Danlos syndrome, periodontal type 2" 0 1 0 0 0 1 -MONDO:0013586 "Chitotriosidase deficiency" 0 2 0 0 0 0 MONDO:0006470 "tonsillar squamous cell carcinoma" 1 3 0 0 0 1 MONDO:0008175 "pacman dysplasia" 1 7 0 0 0 0 MONDO:0005152 "hypopituitarism" 1 14 0 0 0 0 @@ -5838,8 +5849,7 @@ MONDO:0032882 "Heyn-Sproul-Jackson syndrome" 0 1 0 0 0 0 GO:0006706 "steroid catabolic process" 1 0 0 0 0 0 http://identifiers.org/hgnc/2228 "COMT" 0 0 0 0 0 0 MONDO:0005497 "bone development disease" 1 3 0 0 0 1 -MONDO:0008791 "isolated anencephaly/exencephaly" 1 6 0 0 0 0 -MONDO:0020800 "demyelinating disease of central nervous system" 1 6 0 0 0 0 +MONDO:0020800 "demyelinating disease of central nervous system" 1 7 0 0 0 0 MONDO:0032599 "immunodeficiency 15a" 0 1 0 0 0 0 MONDO:0000961 "endobronchial lipoma" 1 3 0 0 0 0 MONDO:0015275 "partial atrioventricular canal" 1 6 0 0 0 0 @@ -5867,7 +5877,7 @@ MONDO:0042981 "aortic valve stenosis" 0 3 0 0 0 0 MONDO:0013152 "systemic lupus erythematosus, susceptibility to, 14" 0 1 0 0 0 0 MONDO:0009646 "Monosomy 7 myelodysplasia and leukemia syndrome 1" 0 3 0 0 0 0 UBERON:0010151 "duct of bulbourethral gland" 0 0 0 0 0 1 -MONDO:0001439 "episcleritis periodica fugax" 0 5 0 0 0 0 +MONDO:0001439 "episcleritis periodica fugax" 0 4 0 0 0 0 MONDO:0019327 "phakomatosis spilorosea" 0 5 0 0 0 0 CL:0000211 "electrically active cell" 1 0 0 0 0 0 MONDO:0014271 "STT3B-CDG" 1 7 0 0 0 0 @@ -5901,7 +5911,7 @@ MONDO:0032689 "retinitis pigmentosa 85" 0 1 0 0 0 0 GO:0043010 "camera-type eye development" 1 0 0 0 0 0 HP:0030222 "Visual agnosia" 1 3 0 0 0 0 MONDO:0000199 "obsolete familial adenomatous polyposis" 0 0 0 0 0 0 -MONDO:0014470 "autosomal dominant nonsyndromic hearing loss 65" 1 4 0 0 0 1 +MONDO:0014470 "autosomal dominant nonsyndromic hearing loss 65" 1 3 0 0 0 1 GO:0001960 "negative regulation of cytokine-mediated signaling pathway" 1 0 0 0 0 1 GO:2001258 "negative regulation of cation channel activity" 1 0 0 0 0 1 MONDO:0010347 "intellectual disability, X-linked 84" 0 3 0 0 0 0 @@ -5916,7 +5926,7 @@ UBERON:0009568 "trunk region of vertebral column" 0 0 0 0 0 1 http://identifiers.org/hgnc/2731 "DDR2" 0 0 0 0 0 0 MONDO:0016056 "isolated congenital microcephaly" 0 5 0 0 0 0 HP:0001339 "Lissencephaly" 1 4 0 0 0 0 -MONDO:0007794 "hypogonadotropic hypogonadism 7 with or without anosmia" 1 5 0 0 0 1 +MONDO:0007794 "hypogonadotropic hypogonadism 7 with or without anosmia" 1 4 0 0 0 1 UBERON:0005289 "tela choroidea of telencephalic ventricle" 0 0 0 0 0 1 MONDO:0015549 "obsolete rare genetic hematologic disease" 0 2 0 0 0 0 http://identifiers.org/hgnc/16404 "IL17F" 0 0 0 0 0 0 @@ -5961,13 +5971,13 @@ MONDO:0007590 "hemifacial hypertrophy" 1 4 0 0 0 0 http://identifiers.org/hgnc/40038 "PET100" 0 0 0 0 0 0 MONDO:0018611 "early-onset lamellar cataract" 0 3 0 0 0 0 MONDO:0005536 "pancolitis" 1 1 0 0 0 0 -MONDO:0100120 "vector-borne disease" 1 1 0 0 0 1 +MONDO:0100120 "vector-borne disease" 1 0 0 0 0 1 MONDO:0004005 "rete ovarii adenoma" 1 3 0 0 0 1 MONDO:0013661 "combined malonic and methylmalonic acidemia" 1 8 0 0 0 0 UBERON:0000922 "embryo" 0 0 0 0 0 1 CL:1000296 "epithelial cell of urethra" 1 1 0 0 0 1 http://identifiers.org/hgnc/10768 "SF3B1" 0 0 0 0 0 0 -MONDO:0012086 "autosomal dominant nonsyndromic hearing loss 31" 1 5 0 0 0 0 +MONDO:0012086 "autosomal dominant nonsyndromic hearing loss 31" 1 4 0 0 0 0 MONDO:0020539 "extragonadal non-dysgerminomatous germ cell tumor" 0 2 0 0 0 1 ENVO:00000300 "scrubland area" 1 0 0 0 0 0 MONDO:0004077 "lumbosacral lipoma" 1 3 0 0 0 1 @@ -6009,7 +6019,7 @@ CHEBI:139588 "alpha-hydroxy ketone" 1 0 0 0 0 0 http://identifiers.org/hgnc/18374 "HPSE2" 0 0 0 0 0 0 MONDO:0007291 "obsolete familial cerebral cavernous malformation" 0 0 0 0 0 0 MONDO:0022938 "deafness goiter stippled epiphyses" 0 1 0 0 0 0 -MONDO:0008410 "Scheuermann disease" 1 11 0 0 0 0 +MONDO:0008410 "Scheuermann disease" 1 10 0 0 0 0 MONDO:0007518 "edema, familial idiopathic, prepubertal" 0 3 0 0 0 0 http://identifiers.org/hgnc/11795 "THPO" 0 0 0 0 0 0 MONDO:0022551 "Basedow's coma" 1 1 0 0 0 0 @@ -6017,7 +6027,7 @@ MONDO:0015004 "dystonia 28, childhood-onset" 1 3 0 0 0 1 UBERON:0012490 "muscle layer of anal canal" 0 0 0 0 0 1 UBERON:0011975 "epiphysis of middle phalanx of pes" 0 0 0 0 0 1 UBERON:0015165 "multi-unit eye" 0 0 0 0 0 1 -MONDO:0013525 "primary ciliary dyskinesia 16" 1 4 0 0 0 1 +MONDO:0013525 "primary ciliary dyskinesia 16" 1 3 0 0 0 1 MONDO:0015869 "obsolete rare benign breast tumor" 1 1 0 0 0 0 UBERON:0018117 "left renal cortex interstitium" 0 0 0 0 0 1 MONDO:0020206 "obsolete rare refraction anomaly" 0 1 0 0 0 0 @@ -6039,10 +6049,10 @@ http://identifiers.org/hgnc/6116 "IRF1" 0 0 0 0 0 0 MONDO:0022930 "Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia" 0 3 0 0 0 0 MONDO:0100023 "self-limited familial and non-familial neonatal seizures" 1 0 0 0 0 0 MONDO:0013016 "leukocyte adhesion deficiency 3" 1 7 0 0 0 1 -MONDO:0015909 "aplastic anemia" 1 13 0 0 0 0 +MONDO:0015909 "aplastic anemia" 1 14 0 0 0 0 NCBITaxon:39700 "Trypanozoon" 0 1 0 0 0 0 MONDO:0008987 "obsolete cirrhosis, familial" 0 0 0 0 0 0 -MONDO:0007285 "cataract 1 multiple types" 1 8 0 0 0 1 +MONDO:0007285 "cataract 1 multiple types" 1 7 0 0 0 1 MONDO:0009235 "familial benign flecked retina" 1 6 0 0 0 0 MONDO:0011903 "Charcot-Marie-Tooth disease type 2J" 1 7 0 0 0 0 UBERON:0001892 "rhombomere" 0 0 0 0 0 1 @@ -6063,7 +6073,7 @@ MONDO:0002581 "spindle cell rhabdomyosarcoma" 1 7 0 0 0 1 CHEBI:48730 "aluminosilicate mineral" 1 0 0 0 0 0 MONDO:0020614 "obsolete blood group--lutheran system" 0 1 0 0 0 0 NCBITaxon:83137 "Sarcoptiformes" 0 1 0 0 0 0 -MONDO:0016690 "pleomorphic xanthoastrocytoma" 1 9 0 0 0 0 +MONDO:0016690 "pleomorphic xanthoastrocytoma" 1 8 0 0 0 0 MONDO:0004189 "esophageal tuberculosis" 1 7 0 0 0 1 NCBITaxon:1980415 "Nairoviridae" 0 1 0 0 0 0 UBERON:0013139 "ligament of liver" 0 0 0 0 0 1 @@ -6091,7 +6101,7 @@ ENVO:01000176 "shrubland biome" 1 0 0 0 0 0 MONDO:0030260 "pontocerebellar hypoplasia, type 1E" 0 1 0 0 0 0 http://identifiers.org/hgnc/6882 "MAPK8IP1" 0 0 0 0 0 0 MONDO:0001577 "respiratory syncytial virus infectious disease" 1 6 0 0 0 1 -MONDO:0001604 "lagophthalmos" 0 7 0 0 0 0 +MONDO:0001604 "lagophthalmos" 0 6 0 0 0 0 MONDO:0000814 "B-cell adult acute lymphocytic leukemia" 1 4 0 0 0 1 MONDO:0018766 "chronic enteropathy associated with SLCO2A1 gene" 0 1 0 0 0 0 MONDO:0014622 "isolated focal non-epidermolytic palmoplantar keratoderma" 0 3 0 0 0 0 @@ -6122,7 +6132,7 @@ UBERON:0001415 "skin of pelvis" 0 0 0 0 0 1 MONDO:0008415 "obsolete Scholte syndrome" 0 1 0 0 0 0 MONDO:0000591 "intrinsic cardiomyopathy" 1 1 0 0 0 1 MONDO:0013066 "46,XY sex reversal 3" 0 5 0 0 0 0 -MONDO:0006515 "acute pancreatitis" 1 12 0 0 0 1 +MONDO:0006515 "acute pancreatitis" 1 10 0 0 0 1 MONDO:0006917 "posterior cerebral artery infarction" 1 4 0 0 0 0 UBERON:0001173 "biliary tree" 0 0 0 0 0 1 MONDO:0008702 "achondrogenesis type II" 1 8 0 0 0 0 @@ -6140,9 +6150,9 @@ MONDO:0020458 "hemolytic anemia due to erythrocyte adenosine deaminase overprodu MONDO:0004059 "dentin sensitivity" 1 5 0 0 0 0 UBERON:0007832 "pelvic girdle skeleton" 0 0 0 0 0 1 NCBITaxon:2509487 "Igacovirus" 0 1 0 0 0 0 -MONDO:0011709 "split hand-foot malformation 5" 1 8 0 0 0 0 +MONDO:0011709 "split hand-foot malformation 5" 1 7 0 0 0 0 MONDO:0030261 "pontocerebellar hypoplasia, type 1F" 0 1 0 0 0 0 -MONDO:0001181 "secondary corneal edema" 0 5 0 0 0 0 +MONDO:0001181 "secondary corneal edema" 0 4 0 0 0 0 MONDO:0022330 "4-hydroxyphenylacetic aciduria" 0 2 0 0 0 0 MONDO:0026724 "Paganini-Miozzo syndrome" 0 1 0 0 0 0 MONDO:0000555 "obsolete autosomal recessive hypophosphatemic rickets" 0 0 0 0 0 0 @@ -6150,7 +6160,7 @@ MONDO:0017489 "ulnar hemimelia, unilateral" 0 2 0 0 0 0 UBERON:0015083 "proximal tarsal bone pre-cartilage condensation" 0 0 0 0 0 1 MONDO:0020296 "congenital arteriovenous fistula" 1 5 0 0 0 0 http://identifiers.org/hgnc/3528 "F10" 0 0 0 0 0 0 -MONDO:0010200 "Wilson disease" 1 11 0 0 0 0 +MONDO:0010200 "Wilson disease" 1 10 0 0 0 0 MONDO:0015595 "posttransplant acute limbic encephalitis" 1 2 0 0 0 0 MONDO:0021108 "meningitis" 1 3 0 0 0 2 MONDO:0006454 "obsolete thymic squamous cell carcinoma" 1 0 0 0 0 0 @@ -6168,13 +6178,13 @@ UBERON:0005321 "mesonephric smooth muscle tissue" 0 0 0 0 0 1 UBERON:0010899 "synchronous hermaphroditic organism" 0 0 0 0 0 1 CHR:9606-chr9p "9p (Human)" 0 0 0 0 0 0 MONDO:0004336 "rectal signet ring cell adenocarcinoma" 1 3 0 0 0 1 -MONDO:0010576 "X-linked mixed hearing loss with perilymphatic gusher" 1 15 0 0 0 0 +MONDO:0010576 "X-linked mixed hearing loss with perilymphatic gusher" 1 13 0 0 0 0 MONDO:0044275 "obsolete carotid intimal medial thickness 1" 0 1 0 0 0 0 UBERON:0002397 "maxilla" 0 0 0 0 0 0 MONDO:0016313 "obsolete renal cell carcinoma" 0 0 0 0 0 0 MONDO:0001580 "lacrimal duct cancer" 1 5 0 0 0 1 MONDO:0004441 "childhood ovarian embryonal carcinoma" 1 3 0 0 0 1 -MONDO:0011994 "autosomal dominant nonsyndromic hearing loss 41" 1 5 0 0 0 1 +MONDO:0011994 "autosomal dominant nonsyndromic hearing loss 41" 1 4 0 0 0 1 MONDO:0015700 "immunodeficiency due to a late component of complement deficiency" 1 8 0 0 0 1 MONDO:0004397 "benign mediastinal psammomatous neurilemmoma" 1 3 0 0 0 0 MONDO:0003184 "trachea carcinoma" 1 4 0 0 0 1 @@ -6197,13 +6207,13 @@ CHR:9606-chr12p12.1 "12p12.1 (Human)" 0 0 0 0 0 0 MONDO:0016429 "Marburg acute multiple sclerosis" 1 2 0 0 0 0 MONDO:0030354 "facioscapulohumeral muscular dystrophy 3, digenic" 0 1 0 0 0 0 http://identifiers.org/hgnc/11581 "TBCD" 0 0 0 0 0 0 -MONDO:0002098 "facial nerve disorder" 1 9 0 0 0 1 +MONDO:0002098 "facial nerve disorder" 1 8 0 0 0 1 MONDO:0014150 "developmental and epileptic encephalopathy 94" 1 6 0 0 0 0 UBERON:0010362 "endoskeleton" 0 0 0 0 0 0 UBERON:0000484 "simple cuboidal epithelium" 0 0 0 0 0 0 UBERON:0010061 "lumen of nasopharynx" 0 0 0 0 0 0 MONDO:0013412 "hypertrophic cardiomyopathy 9" 1 4 0 0 0 1 -MONDO:0004604 "Hodgkin's lymphoma, lymphocytic-histiocytic predominance" 1 10 0 0 0 0 +MONDO:0004604 "Hodgkin's lymphoma, lymphocytic-histiocytic predominance" 1 9 0 0 0 0 MONDO:0031446 "hypercholanemia, familial 1" 1 5 0 0 0 0 http://identifiers.org/hgnc/8931 "PHKG2" 0 0 0 0 0 0 MONDO:0019901 "non-distal monosomy 20q" 0 2 0 0 0 0 @@ -6236,7 +6246,7 @@ SO:0001483 "SNV" 1 0 0 0 0 0 MONDO:0000532 "lung combined type small cell adenocarcinoma" 1 1 0 0 0 1 http://identifiers.org/hgnc/26162 "PYROXD1" 0 0 0 0 0 0 MONDO:0017333 "obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism" 0 2 0 0 0 0 -MONDO:0014750 "primary ciliary dyskinesia 33" 1 4 0 0 0 1 +MONDO:0014750 "primary ciliary dyskinesia 33" 1 3 0 0 0 1 GO:0051355 "proprioception involved in equilibrioception" 1 0 0 0 0 1 MONDO:0011537 "macrocephaly-autism syndrome" 1 5 0 0 0 0 MONDO:0000067 "obsolete mitochondrial DNA depletion syndrome" 0 0 0 0 0 0 @@ -6252,7 +6262,7 @@ http://identifiers.org/hgnc/21061 "SERAC1" 0 0 0 0 0 0 MONDO:0002904 "echolalia" 1 4 0 0 0 0 MONDO:0019654 "familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" 0 3 0 0 0 0 MONDO:0008357 "radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome" 1 6 0 0 0 0 -MONDO:0019348 "obsolete Ehlers-Danlos syndrome with periventricular heterotopia" 1 4 0 0 0 0 +MONDO:0019348 "obsolete Ehlers-Danlos syndrome with periventricular heterotopia" 1 5 0 0 0 0 MONDO:0016523 "bronchogenic cyst" 1 6 0 0 0 0 http://identifiers.org/hgnc/10771 "SF3B4" 0 0 0 0 0 0 MONDO:0004934 "periostitis" 1 6 0 0 0 1 @@ -6276,7 +6286,7 @@ MONDO:0005285 "obsolete kidney stone" 0 0 0 0 0 0 MONDO:0019916 "maternal uniparental disomy of chromosome 16" 0 2 0 0 0 0 HP:0100496 "Abnormality of the vitamin B3 metabolism" 0 1 0 0 0 0 UBERON:0003591 "lobar bronchus connective tissue" 0 0 0 0 0 1 -MONDO:0012370 "autosomal recessive nonsyndromic hearing loss 51" 1 5 0 0 0 0 +MONDO:0012370 "autosomal recessive nonsyndromic hearing loss 51" 1 4 0 0 0 0 MONDO:0000855 "obsolete acromesomelic dysplasia" 0 0 0 0 0 0 UBERON:0011164 "neurocranium bone" 0 0 0 0 0 1 MONDO:0030259 "pontocerebellar hypoplasia, type 15" 0 1 0 0 0 0 @@ -6285,25 +6295,25 @@ MONDO:0005562 "age-related hearing impairment" 1 1 0 0 0 0 MONDO:0011883 "Curly hair - acral keratoderma - caries syndrome" 1 5 0 0 0 0 GO:0097458 "obsolete neuron part" 1 0 0 0 0 0 UBERON:0012469 "external anal region" 0 0 0 0 0 0 -MONDO:0019391 "Fanconi anemia" 1 27 0 0 0 0 +MONDO:0019391 "Fanconi anemia" 1 26 0 0 0 0 CHEBI:77746 "human metabolite" 1 0 0 0 0 0 MONDO:0019915 "maternal uniparental disomy of chromosome 14" 1 2 0 0 0 0 NCBITaxon:485 "Neisseria gonorrhoeae" 0 1 0 0 0 0 MONDO:0030258 "pontocerebellar hypoplasia, type 14" 0 1 0 0 0 0 GO:0099111 "microtubule-based transport" 1 0 0 0 0 0 MONDO:0009600 "metaphyseal dysplasia, anetoderma, and optic atrophy" 0 3 0 0 0 0 -MONDO:0001903 "calcific tendinitis" 0 6 0 0 0 0 +MONDO:0001903 "calcific tendinitis" 0 5 0 0 0 0 MONDO:0005223 "acute myeloid leukemia with minimal differentiation" 1 7 0 0 0 0 MONDO:0000142 "obsolete multiple congenital anomalies-hypotonia-seizures syndrome" 0 0 0 0 0 0 MONDO:0040699 "necrotizing scleritis" 1 2 0 0 0 1 UBERON:0001437 "epiphysis" 0 0 0 0 0 0 MONDO:0012430 "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2" 1 4 0 0 0 1 MONDO:0015587 "rolandic epilepsy-speech dyspraxia syndrome" 1 4 0 0 0 0 -MONDO:0020312 "atypical chronic myeloid leukemia" 0 5 0 0 0 0 +MONDO:0020312 "atypical chronic myeloid leukemia" 0 4 0 0 0 0 CHR:9606-chr7p11.2-p13 "7p11.2-p13 (Human)" 0 0 0 0 0 0 MONDO:0007710 "facial hemiatrophy" 1 10 0 0 0 0 MONDO:0005199 "obsolete peripartum cardiomyopathy" 0 0 0 0 0 0 -MONDO:0002077 "low implantation of placenta" 0 4 0 0 0 0 +MONDO:0002077 "low implantation of placenta" 0 3 0 0 0 0 MONDO:0014978 "preimplantation embryonic lethality 2" 1 2 0 0 0 1 CL:0019002 "tracheobronchial chondrocyte"@en 1 0 0 0 0 1 GO:0046997 "oxidoreductase activity, acting on the CH-NH group of donors, flavin as acceptor" 1 0 0 0 0 0 @@ -6346,7 +6356,7 @@ MONDO:0020065 "combined dystonia" 1 3 0 0 0 0 MONDO:0021483 "benign neoplasm of frontal sinus" 1 4 0 0 0 1 MONDO:0006942 "obsolete reflex epilepsy" 0 0 0 0 0 0 http://identifiers.org/hgnc/21498 "ATG16L1" 0 0 0 0 0 0 -MONDO:0002089 "retinal vascular occlusion" 1 8 0 0 0 1 +MONDO:0002089 "retinal vascular occlusion" 1 7 0 0 0 1 MONDO:0002278 "benign colon neoplasm" 1 8 0 0 0 1 MONDO:0011085 "Charcot-Marie-Tooth disease type 4D" 1 8 0 0 0 1 MONDO:0006516 "sarcopenia" 1 5 0 0 0 0 @@ -6359,10 +6369,10 @@ NCBITaxon:6201 "Cyclophyllidea" 0 1 0 0 0 0 PATO:0001591 "curvature" 1 0 0 0 0 0 UBERON:0010199 "bona-fide anatomical boundary" 0 0 0 0 0 0 GO:0045540 "regulation of cholesterol biosynthetic process" 1 0 0 0 0 1 -MONDO:0005885 "optic neuritis" 1 11 0 0 0 1 +MONDO:0005885 "optic neuritis" 1 10 0 0 0 1 MONDO:0007619 "isolated congenital adermatoglyphia" 1 7 0 0 0 0 HP:0000972 "Palmoplantar hyperkeratosis" 1 3 0 0 0 0 -MONDO:0011991 "autosomal recessive nonsyndromic hearing loss 38" 1 5 0 0 0 0 +MONDO:0011991 "autosomal recessive nonsyndromic hearing loss 38" 1 4 0 0 0 0 NCBITaxon:3744 "Rosales" 0 1 0 0 0 0 MONDO:0017133 "obsolete genetic systemic or rheumatologic disease" 0 0 0 0 0 0 MONDO:0015264 "cryptogenic organizing pneumonia" 1 11 0 0 0 0 @@ -6372,7 +6382,7 @@ MONDO:0044237 "obsolete hypercholesterolemia suppressor" 0 1 0 0 0 0 GO:0098773 "skin epidermis development" 1 0 0 0 0 0 FOODON:03510021 "animal as food consumer"@en 0 0 0 0 0 0 MONDO:0007450 "neurohypophyseal diabetes insipidus" 1 8 0 0 0 1 -MONDO:0005580 "esophageal squamous cell carcinoma" 1 15 0 0 0 1 +MONDO:0005580 "esophageal squamous cell carcinoma" 1 13 0 0 0 1 MONDO:0008087 "hereditary neuropathy with liability to pressure palsies" 1 8 0 0 0 0 MONDO:0030527 "epidermolysis bullosa simplex 2C, localized" 0 1 0 0 0 0 MONDO:0043218 "neurovascular disorder" 1 2 0 0 0 1 @@ -6389,14 +6399,14 @@ MONDO:0016193 "qualitative or quantitative defects of alpha-actin" 0 1 0 0 0 0 GO:0060764 "cell-cell signaling involved in mammary gland development" 1 0 0 0 0 1 MONDO:0020651 "mixed germ cell tumor of vulva" 0 1 0 0 0 1 http://identifiers.org/hgnc/18083 "TRPV4" 0 0 0 0 0 0 -MONDO:0004924 "chronic canaliculitis" 1 5 0 0 0 1 +MONDO:0004924 "chronic canaliculitis" 1 4 0 0 0 1 MONDO:0001484 "paranoid schizophrenia" 1 9 0 0 0 0 MONDO:0011526 "obsolete Sebastian syndrome" 0 1 0 0 0 0 NCBITaxon:260964 "Henipavirus" 0 1 0 0 0 0 HsapDv:0000144 "50-year-old human stage" 1 0 0 0 0 0 MONDO:0011805 "asthma-related traits, susceptibility to, 1" 1 2 0 0 0 1 NCBITaxon:28450 "Burkholderia pseudomallei" 0 3 0 0 0 0 -MONDO:0001187 "urinary bladder cancer" 1 15 0 0 0 1 +MONDO:0001187 "urinary bladder cancer" 1 13 0 0 0 1 GO:1900048 "positive regulation of hemostasis" 1 0 0 0 0 1 GO:0001523 "retinoid metabolic process" 1 0 0 0 0 0 http://identifiers.org/hgnc/8109 "ODC1" 0 0 0 0 0 0 @@ -6420,10 +6430,10 @@ MONDO:0054771 "keratoconus 9" 0 2 0 0 0 0 MONDO:0009512 "lethal Larsen-like syndrome" 1 8 0 0 0 0 MONDO:0024246 "syringofibroadenoma" 1 6 0 0 0 0 PATO:0000610 "open" 1 0 0 0 0 0 -MONDO:0001376 "urinary bladder anterior wall cancer" 0 5 0 0 0 0 +MONDO:0001376 "urinary bladder anterior wall cancer" 0 4 0 0 0 0 MONDO:0003098 "mediastinal neural neoplasm" 1 3 0 0 0 1 MONDO:0010314 "polymicrogyria, bilateral perisylvian, X-linked" 0 4 0 0 0 0 -MONDO:0044881 "hematopoietic and lymphoid cell neoplasm" 1 1 0 0 0 1 +MONDO:0044881 "hematopoietic and lymphoid cell neoplasm" 1 2 0 0 0 1 MONDO:0017467 "tibio-fibular synostosis" 1 3 0 0 0 0 MONDO:0015817 "aggressive primary cutaneous T-cell lymphoma" 0 1 0 0 0 0 CL:0000723 "somatic stem cell" 1 2 0 0 0 1 @@ -6434,7 +6444,7 @@ HP:0100763 "Abnormality of the lymphatic system" 1 7 0 0 0 0 MONDO:0021510 "benign neoplasm of prostate" 1 5 0 0 0 1 http://identifiers.org/hgnc/1869 "CETP" 0 0 0 0 0 0 CHEBI:33767 "cobalt group molecular entity" 0 0 0 0 0 0 -MONDO:0012376 "autosomal recessive nonsyndromic hearing loss 55" 1 5 0 0 0 0 +MONDO:0012376 "autosomal recessive nonsyndromic hearing loss 55" 1 4 0 0 0 0 http://identifiers.org/hgnc/15836 "PROKR2" 0 0 0 0 0 0 NCBITaxon:694014 "Avian coronavirus" 0 1 0 0 0 0 UBERON:0004180 "mammary gland fat" 0 0 0 0 0 1 @@ -6461,7 +6471,7 @@ MONDO:0008998 "Cockayne syndrome type 3" 1 7 0 0 0 0 http://identifiers.org/hgnc/438 "ALPL" 0 0 0 0 0 0 MONDO:0008828 "camptodactyly-arthropathy-coxa vara-pericarditis syndrome" 1 6 0 0 0 0 http://identifiers.org/hgnc/8725 "PCK2" 0 0 0 0 0 0 -MONDO:0010661 "severe X-linked intellectual disability, Gustavson type" 1 7 0 0 0 0 +MONDO:0010661 "severe X-linked intellectual disability, Gustavson type" 1 6 0 0 0 0 HP:0005257 "Thoracic hypoplasia" 0 1 0 0 0 0 MONDO:0007607 "Birt-Hogg-Dube syndrome" 1 11 0 0 0 0 http://identifiers.org/hgnc/4388 "GNAL" 0 0 0 0 0 0 @@ -6506,9 +6516,9 @@ MONDO:0018801 "congenital bilateral absence of vas deferens" 1 9 0 0 0 0 UBERON:0001622 "lacrimal artery" 0 0 0 0 0 1 MONDO:0014634 "46,XY sex reversal 10" 0 5 0 0 0 0 MONDO:0013337 "neuropathy, hereditary sensory and autonomic, type 1C" 1 4 0 0 0 0 -MONDO:0005091 "severe acute respiratory syndrome" 1 12 0 0 0 1 +MONDO:0005091 "severe acute respiratory syndrome" 1 10 0 0 0 1 MONDO:0005730 "Dictyocaulus infectious disease" 1 3 0 0 0 1 -MONDO:0019735 "polymyalgia rheumatica" 1 11 0 0 0 0 +MONDO:0019735 "polymyalgia rheumatica" 1 10 0 0 0 0 CL:0002432 "CD24-positive, CD4 single-positive thymocyte" 1 0 0 0 0 0 UBERON:3010200 "vasculature of respiratory integument" 0 0 0 0 0 1 MONDO:0019580 "papular mucinosis of infancy" 1 4 0 0 0 0 @@ -6520,7 +6530,7 @@ MONDO:0012220 "Griscelli syndrome type 3" 1 8 0 0 0 1 MONDO:0016607 "odontohypophosphatasia" 1 6 0 0 0 0 MONDO:0007255 "obsolete colorectal cancer" 0 0 0 0 0 0 MONDO:0005734 "dourine" 1 4 0 0 0 0 -MONDO:0001193 "obsolete chorioretinal scar" 0 6 0 0 0 0 +MONDO:0001193 "obsolete chorioretinal scar" 0 4 0 0 0 0 http://identifiers.org/hgnc/11237 "SPG7" 0 0 0 0 0 0 MONDO:0009139 "dyssegmental dysplasia, Rolland-Desbuquois type" 0 8 0 0 0 0 MPATH:603 "pathological anatomical entity" 1 0 0 0 0 0 @@ -6528,7 +6538,7 @@ GO:0033007 "negative regulation of mast cell activation involved in immune respo MONDO:0020623 "obsolete blood group--ul system" 0 1 0 0 0 0 http://identifiers.org/hgnc/11727 "TERC" 0 0 0 0 0 0 http://identifiers.org/hgnc/12371 "RSPH1" 0 0 0 0 0 0 -MONDO:0019804 "tracheomalacia" 1 10 0 0 0 0 +MONDO:0019804 "tracheomalacia" 1 9 0 0 0 0 MONDO:0015181 "obsolete congenital intestinal disease due to an enzymatic defect" 0 1 0 0 0 0 MONDO:0008188 "papillomatosis, confluent and reticulated" 0 3 0 0 0 0 MONDO:0023659 "developmental and epileptic encephalopathy 96" 0 1 0 0 0 0 @@ -6556,7 +6566,7 @@ MONDO:0008761 "obsolete alpha-2-deficient collagen disease" 0 5 0 0 0 0 MONDO:0019396 "collagen type III glomerulopathy" 1 6 0 0 0 0 MONDO:0014714 "progressive microcephaly-seizures-cortical blindness-developmental delay syndrome" 1 3 0 0 0 0 MONDO:0016204 "idiopathic copper-associated cirrhosis" 1 4 0 0 0 0 -MONDO:0017979 "autoimmune lymphoproliferative syndrome" 1 15 0 0 0 1 +MONDO:0017979 "autoimmune lymphoproliferative syndrome" 1 14 0 0 0 1 MONDO:0008451 "neuronopathy, distal hereditary motor, type 1" 1 7 0 0 0 0 MONDO:0019261 "infantile neuronal ceroid lipofuscinosis" 1 5 0 0 0 1 http://identifiers.org/hgnc/7467 "MTTP" 0 0 0 0 0 0 @@ -6605,7 +6615,7 @@ HP:0002240 "Hepatomegaly" 1 3 0 0 0 0 http://identifiers.org/hgnc/21580 "KIAA0319" 0 0 0 0 0 0 MONDO:0032793 "O'Donnell-Luria-Rodan syndrome" 0 1 0 0 0 0 MONDO:0007693 "hypertrichosis cubiti-short stature syndrome" 1 7 0 0 0 0 -MONDO:0005560 "brain disorder" 1 13 0 0 0 1 +MONDO:0005560 "brain disorder" 1 11 0 0 0 1 MONDO:0012384 "panic disorder 3" 0 2 0 0 0 0 http://identifiers.org/hgnc/870 "ATP7B" 0 0 0 0 0 0 UBERON:0000092 "post-embryonic stage" 1 0 0 0 0 0 @@ -6617,7 +6627,7 @@ GO:0007005 "mitochondrion organization" 1 0 0 0 0 0 MONDO:0031037 "famililal cerebral cavernous malformations" 1 8 0 0 0 1 MONDO:0014709 "obsolete Heimler syndrome 2" 0 3 0 0 0 0 GO:0042588 "zymogen granule" 1 0 0 0 0 0 -MONDO:0003832 "complement deficiency" 1 8 0 0 0 1 +MONDO:0003832 "complement deficiency" 1 6 0 0 0 1 CL:0002047 "Fraction B precursor B cell" 1 0 0 0 0 0 UBERON:0000924 "ectoderm" 0 0 0 0 0 0 MONDO:0013128 "familial juvenile hyperuricemic nephropathy type 2" 1 5 0 0 0 1 @@ -6626,10 +6636,10 @@ GO:0031335 "regulation of sulfur amino acid metabolic process" 1 0 0 0 0 1 UBERON:0007324 "pancreatic lobule" 0 0 0 0 0 0 MONDO:0002857 "gallbladder sarcoma" 1 3 0 0 0 1 MONDO:0015858 "obsolete rare non-malformative breast disease" 0 2 0 0 0 0 -MONDO:0002817 "adrenal gland cancer" 1 10 0 0 0 1 +MONDO:0002817 "adrenal gland cancer" 1 8 0 0 0 1 MONDO:0001877 "infertility due to extratesticular cause" 0 4 0 0 0 0 http://identifiers.org/hgnc/7728 "NEDD4L" 0 0 0 0 0 0 -MONDO:0013985 "autosomal recessive nonsyndromic hearing loss 18B" 1 4 0 0 0 1 +MONDO:0013985 "autosomal recessive nonsyndromic hearing loss 18B" 1 3 0 0 0 1 MONDO:0002966 "splenic manifestation of prolymphocytic leukemia" 1 3 0 0 0 1 NCBITaxon:2732543 "Hepelivirales" 0 1 0 0 0 0 MONDO:0040501 "ehlers-danlos syndrome, arthrochalasia type, 2" 0 1 0 0 0 0 @@ -6676,7 +6686,7 @@ MONDO:0013270 "Rett syndrome, congenital variant" 0 3 0 0 0 0 MONDO:0100449 "FLVCR1-related retinopathy with or without ataxia" 1 0 0 0 0 0 MONDO:0013902 "aortic valve disease 2" 1 4 0 0 0 1 MONDO:0017150 "obsolete pulmonary arterial hypertension associated with another disease" 1 4 0 0 0 0 -MONDO:0021167 "myositis" 1 11 0 0 0 1 +MONDO:0021167 "myositis" 1 7 0 0 0 1 CHR:9606-chr11q24.1 "11q24.1 (Human)" 0 0 0 0 0 0 MONDO:0032768 "developmental and epileptic encephalopathy, 76" 0 1 0 0 0 0 UBERON:0005294 "gonadal ridge" 0 0 0 0 0 0 @@ -6685,7 +6695,7 @@ MONDO:0019170 "polyarteritis nodosa" 1 10 0 0 0 0 http://identifiers.org/hgnc/4877 "HESX1" 0 0 0 0 0 0 UBERON:0013140 "systemic vein" 0 0 0 0 0 1 MONDO:0011902 "Charcot-Marie-Tooth disease type 1F" 1 8 0 0 0 1 -MONDO:0011773 "anauxetic dysplasia" 1 8 0 0 0 0 +MONDO:0011773 "anauxetic dysplasia" 1 10 0 0 0 0 MONDO:0015575 "obsolete rare bacterial infectious disease" 1 1 0 0 0 0 MONDO:0002030 "chronic cervicitis" 1 4 0 0 0 1 CL:0002549 "fibroblast of choroid plexus" 1 0 0 0 0 1 @@ -6740,12 +6750,12 @@ http://identifiers.org/hgnc/12774 "WNT1" 0 0 0 0 0 0 MONDO:0014401 "tall stature-scoliosis-macrodactyly of the great toes syndrome" 1 4 0 0 0 0 MONDO:0002916 "brainstem intraparenchymal clear cell meningioma" 1 3 0 0 0 0 NCBITaxon:47570 "Schizotrypanum" 0 1 0 0 0 0 -MONDO:0002429 "idiopathic interstitial pneumonia" 1 11 0 0 0 0 +MONDO:0002429 "idiopathic interstitial pneumonia" 1 9 0 0 0 0 MONDO:0018978 "IgG4-related mediastinitis" 0 5 0 0 0 0 CHEBI:25213 "metal cation" 0 0 0 0 0 0 MONDO:0037870 "valine metabolism disease" 1 2 0 0 0 1 MONDO:0014278 "immunodeficiency 18" 1 4 0 0 0 0 -MONDO:0009575 "thiamine-responsive megaloblastic anemia syndrome" 1 8 0 0 0 0 +MONDO:0009575 "thiamine-responsive megaloblastic anemia syndrome" 1 7 0 0 0 0 http://identifiers.org/hgnc/18501 "RPS4Y2" 0 0 0 0 0 0 GO:0001755 "neural crest cell migration" 1 0 0 0 0 0 MONDO:0022918 "obsolete cytokine deficiency" 1 1 0 0 0 0 @@ -6770,7 +6780,7 @@ SO:1000182 "chromosome_number_variation" 1 0 0 0 0 0 MONDO:0011823 "developmental malformations-deafness-dystonia syndrome" 1 6 0 0 0 0 UBERON:0001972 "submucosa of esophagus" 0 0 0 0 0 1 GO:0044273 "sulfur compound catabolic process" 1 0 0 0 0 0 -MONDO:0012091 "autosomal recessive nonsyndromic hearing loss 32" 1 7 0 0 0 1 +MONDO:0012091 "autosomal recessive nonsyndromic hearing loss 32" 1 6 0 0 0 1 MONDO:0015043 "extramedullary soft tissue plasmacytoma" 0 3 0 0 0 0 MONDO:0012532 "hereditary hemorrhagic telangiectasia type 4" 0 4 0 0 0 0 MONDO:0018597 "plastic bronchitis" 1 3 0 0 0 0 @@ -6795,7 +6805,7 @@ MONDO:0010553 "Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich atax MONDO:0010770 "ubiquitin-activating enzyme, Y-linked" 0 1 0 0 0 0 http://identifiers.org/hgnc/4396 "GNB1" 0 0 0 0 0 0 http://identifiers.org/hgnc/16791 "TSEN15" 0 0 0 0 0 0 -MONDO:0001555 "neonatal thyrotoxicosis" 1 6 0 0 0 0 +MONDO:0001555 "neonatal thyrotoxicosis" 1 5 0 0 0 0 http://identifiers.org/hgnc/30078 "REEP6" 0 0 0 0 0 0 GO:0050890 "cognition" 1 0 0 0 0 0 MONDO:0016150 "qualitative or quantitative defects of integrin alpha-7" 0 1 0 0 0 1 @@ -6803,14 +6813,14 @@ UBERON:0010911 "ossicle" 0 0 0 0 0 0 MONDO:0024954 "larva migrans, visceral" 1 1 0 0 0 0 MONDO:0014289 "macrocephaly-developmental delay syndrome" 1 4 0 0 0 0 GO:0035441 "cell migration involved in vasculogenesis" 1 0 0 0 0 1 -MONDO:0012342 "7q11.23 microduplication syndrome" 1 8 0 0 0 1 +MONDO:0012342 "7q11.23 microduplication syndrome" 1 7 0 0 0 1 MONDO:0018112 "isolated scaphocephaly" 1 5 0 0 0 0 GO:0051953 "negative regulation of amine transport" 1 0 0 0 0 1 MONDO:0003851 "ovarian fetiform teratoma" 1 3 0 0 0 0 MONDO:0012267 "holoprosencephaly 8" 1 5 0 0 0 0 MONDO:0003835 "gastric cardia adenocarcinoma" 1 3 0 0 0 1 CHEBI:39142 "Bronsted base" 1 0 0 0 0 0 -MONDO:0018754 "cyanide poisoning" 0 5 0 0 0 0 +MONDO:0018754 "cyanide poisoning" 0 4 0 0 0 0 GO:0035949 "obsolete positive regulation of gluconeogenesis by negative regulation of transcription from RNA polymerase II promoter" 1 0 0 0 0 0 MONDO:0008873 "microcephalic osteodysplastic primordial dwarfism, type 3" 0 4 0 0 0 0 MONDO:0000852 "obsolete hypochondrogenesis" 0 0 0 0 0 0 @@ -6859,7 +6869,7 @@ UBERON:0006807 "ectepicondyle of humerus" 0 0 0 0 0 0 UBERON:0000088 "trophoblast" 0 0 0 0 0 0 GO:0042692 "muscle cell differentiation" 1 0 0 0 0 0 MONDO:0007021 "obsolete wheat allergic disease" 1 5 0 0 0 0 -MONDO:0018533 "undifferentiated carcinoma of liver and intrahepatic biliary tract" 1 5 0 0 0 1 +MONDO:0018533 "undifferentiated carcinoma of liver and intrahepatic biliary tract" 1 2 0 0 0 1 MONDO:0010551 "Charcot-Marie-Tooth disease X-linked recessive 3" 1 8 0 0 0 0 UBERON:0001610 "lingual artery" 0 0 0 0 0 1 MONDO:0024307 "prothrombin deficiency" 0 0 0 0 0 0 @@ -6867,7 +6877,7 @@ NCBITaxon:649188 "Lujo mammarenavirus" 0 1 0 0 0 0 http://identifiers.org/hgnc/12593 "USF1" 0 0 0 0 0 0 GO:0004618 "phosphoglycerate kinase activity" 1 0 0 0 0 0 MONDO:0004356 "childhood multilocular cystic kidney neoplasm" 1 3 0 0 0 0 -MONDO:0014621 "Brugada syndrome 9" 1 5 0 0 0 1 +MONDO:0014621 "Brugada syndrome 9" 1 4 0 0 0 1 PO:0009006 "shoot system" 1 1 0 0 0 0 MONDO:0010910 "enuresis, nocturnal, 1" 1 1 0 0 0 0 MONDO:0004004 "motor nerve neuritis" 1 2 0 0 0 1 @@ -6893,13 +6903,13 @@ http://identifiers.org/hgnc/4206 "OPN1MW" 0 0 0 0 0 0 MONDO:0018630 "hereditary nonpolyposis colon cancer" 1 5 0 0 0 0 MONDO:0003250 "benign granular cell tumor" 1 3 0 0 0 1 MONDO:0001122 "chronic maxillary sinusitis" 1 6 0 0 0 1 -MONDO:0004950 "gastric carcinoma" 1 11 0 0 0 1 +MONDO:0004950 "gastric carcinoma" 1 10 0 0 0 1 MONDO:0003685 "retroperitoneal germ cell neoplasm" 1 3 0 0 0 1 http://identifiers.org/hgnc/6239 "KCND3" 0 0 0 0 0 0 UBERON:0004061 "neural tube mantle layer" 0 0 0 0 0 0 MONDO:0008148 "osteogenesis imperfecta type 4" 1 17 0 0 0 0 -MONDO:0021223 "digestive system neoplasm" 1 3 0 0 0 1 -MONDO:0015453 "Cogan syndrome" 1 9 0 0 0 0 +MONDO:0021223 "digestive system neoplasm" 1 4 0 0 0 1 +MONDO:0015453 "Cogan syndrome" 1 8 0 0 0 0 GO:0030593 "neutrophil chemotaxis" 1 0 0 0 0 0 MONDO:0003500 "squamous cell bile duct carcinoma" 1 3 0 0 0 1 GO:0061007 "hepaticobiliary system process" 1 0 0 0 0 0 @@ -6918,7 +6928,7 @@ MONDO:0005412 "duodenal ulcer" 1 8 0 0 0 0 MONDO:0013474 "hypertrophic cardiomyopathy 17" 1 3 0 0 0 1 MONDO:0025513 "autoimmune urticaria" 1 3 0 0 0 1 UBERON:0009651 "nephron tubule basement membrane" 0 0 0 0 0 1 -MONDO:0000910 "retinitis pigmentosa 6" 1 6 0 0 0 0 +MONDO:0000910 "retinitis pigmentosa 6" 1 5 0 0 0 0 MONDO:0002824 "extrinsic cardiomyopathy" 1 3 0 0 0 0 MONDO:0017629 "sodium channelopathy-related small fiber neuropathy" 0 3 0 0 0 0 MONDO:0002552 "vascular myelopathy" 0 5 0 0 0 0 @@ -6931,22 +6941,22 @@ UBERON:0015420 "ureteral valve" 0 0 0 0 0 1 http://identifiers.org/hgnc/9067 "PLD1" 0 0 0 0 0 0 MONDO:0016335 "obsolete mitochondrial disease with dilated cardiomyopathy" 0 2 0 0 0 0 HP:0000774 "Narrow chest" 1 2 0 0 0 0 -MONDO:0005473 "temporomandibular joint disorder" 1 6 0 0 0 0 +MONDO:0005473 "temporomandibular joint disorder" 1 7 0 0 0 0 MONDO:0016137 "obsolete acute and subacute inflammatory demyelinating polyneuropathy" 0 1 0 0 0 0 HP:0040075 "Hypopituitarism" 0 3 0 0 0 0 MONDO:0014317 "pancytopenia-developmental delay syndrome" 0 4 0 0 0 0 MONDO:0002300 "dermis tumor" 1 3 0 0 0 1 MONDO:0016772 "annular lichen planus" 1 5 0 0 0 0 -MONDO:0015100 "aregenerative anemia" 0 6 0 0 0 0 +MONDO:0015100 "aregenerative anemia" 0 5 0 0 0 0 GO:0002520 "immune system development" 1 0 0 0 0 0 -MONDO:0012727 "mucocutaneous lymph node syndrome" 1 12 0 0 0 0 +MONDO:0012727 "mucocutaneous lymph node syndrome" 1 11 0 0 0 0 MONDO:0008255 "platelet factor 3 deficiency" 0 3 0 0 0 0 UBERON:0008896 "post-hyoid pharyngeal arch" 0 0 0 0 0 1 MONDO:0003837 "TSH producing pituitary tumor" 1 6 0 0 0 0 MONDO:0012289 "myofibrillar myopathy 5" 1 5 0 0 0 1 MONDO:0040674 "orgasm disorder" 0 2 0 0 0 1 MONDO:0000192 "polyglucosan body myopathy" 0 2 0 0 0 0 -MONDO:0010398 "syndromic X-linked intellectual disability 14" 1 6 0 0 0 1 +MONDO:0010398 "syndromic X-linked intellectual disability 14" 1 5 0 0 0 1 GO:1901213 "regulation of transcription from RNA polymerase II promoter involved in heart development" 1 0 0 0 0 1 GO:0004689 "phosphorylase kinase activity" 1 0 0 0 0 0 GO:0006775 "fat-soluble vitamin metabolic process" 1 0 0 0 0 0 @@ -6956,7 +6966,7 @@ GO:0090154 "positive regulation of sphingolipid biosynthetic process" 1 0 0 0 0 OBI:0100026 "organism"@en 1 0 0 0 0 1 http://identifiers.org/hgnc/1786 "CDKN1C" 0 0 0 0 0 0 GO:0010948 "negative regulation of cell cycle process" 1 0 0 0 0 1 -MONDO:0002043 "ectropion" 1 10 0 0 0 0 +MONDO:0002043 "ectropion" 1 7 0 0 0 0 HP:0001881 "Abnormal leukocyte morphology" 1 3 0 0 0 0 CHR:9606-chr3q13.3 "3q13.3 (Human)" 0 0 0 0 0 0 http://identifiers.org/hgnc/11799 "THRB" 0 0 0 0 0 0 @@ -6969,14 +6979,14 @@ MONDO:0001386 "visual epilepsy" 1 5 0 0 0 0 MONDO:0018808 "Caroli syndrome" 0 2 0 0 0 0 MONDO:0023124 "familial pulmonary arterial hypertension leucopenia and atrial septal defect" 0 1 0 0 0 0 MONDO:0024571 "AIDS-related disorder" 1 2 0 0 0 1 -MONDO:0014345 "retinitis pigmentosa 69" 1 4 0 0 0 1 +MONDO:0014345 "retinitis pigmentosa 69" 1 3 0 0 0 1 GO:0044249 "cellular biosynthetic process" 1 0 0 0 0 0 UBERON:0006849 "scapula" 0 0 0 0 0 1 MONDO:0030294 "megacystis-microcolon-intestinal hypoperistalsis syndrome 3" 0 1 0 0 0 0 UBERON:0004388 "epiphysis of fibula" 0 0 0 0 0 1 http://identifiers.org/hgnc/18129 "GHRL" 0 0 0 0 0 0 -MONDO:0007868 "hyperekplexia 1" 1 4 0 0 0 0 -MONDO:0001500 "gender identity disorder" 1 9 0 0 0 0 +MONDO:0007868 "hyperekplexia 1" 1 3 0 0 0 0 +MONDO:0001500 "gender identity disorder" 1 8 0 0 0 0 MONDO:0021571 "multiple sclerosis, susceptibility to 1" 0 2 0 0 0 0 ENVO:01001684 "interface layer"@en 1 0 0 0 0 0 MONDO:0019924 "paternal uniparental disomy of chromosome 20" 1 4 0 0 0 0 @@ -7015,7 +7025,7 @@ UBERON:0002016 "pulmonary vein" 0 0 0 0 0 1 http://identifiers.org/hgnc/10379 "MRPL3" 0 0 0 0 0 0 MONDO:0019265 "diazoxide-resistant focal hyperinsulinism" 1 2 0 0 0 0 MONDO:0017711 "pancreatic colipase deficiency" 0 6 0 0 0 0 -MONDO:0014462 "focal segmental glomerulosclerosis 8" 1 4 0 0 0 1 +MONDO:0014462 "focal segmental glomerulosclerosis 8" 1 3 0 0 0 1 MONDO:0003798 "obsolete epithelioid sarcoma" 0 0 0 0 0 0 http://identifiers.org/hgnc/1248 "C2" 0 0 0 0 0 0 HP:0009830 "Peripheral neuropathy" 1 6 0 0 0 0 @@ -7032,7 +7042,7 @@ MONDO:0000983 "exhibitionism" 1 6 0 0 0 0 MONDO:0020484 "obsolete rare familial disorder with hypertrophic cardiomyopathy" 0 1 0 0 0 0 UBERON:0001333 "male urethra" 0 0 0 0 0 1 ENVO:01001201 "marine environmental zone"@en 1 0 0 0 0 1 -MONDO:0000839 "obsolete congenital abnormality" 1 9 0 0 0 0 +MONDO:0000839 "obsolete congenital abnormality" 1 8 0 0 0 0 NCBITaxon:214035 "Tunga penetrans" 0 1 0 0 0 0 MONDO:0011091 "Charcot-Marie-Tooth disease type 2D" 1 10 0 0 0 1 MONDO:0033559 "intellectual developmental disorder with seizures and language delay" 0 1 0 0 0 0 @@ -7046,15 +7056,15 @@ MONDO:0001144 "partial third-nerve palsy" 0 5 0 0 0 0 MONDO:0002620 "localized osteosarcoma" 1 3 0 0 0 0 MONDO:0020697 "lung epithelial-myoepithelial carcinoma" 1 1 0 0 0 1 MONDO:0004271 "pregnancy adenoma" 1 4 0 0 0 0 -MONDO:0005085 "pterygium" 1 11 0 0 0 0 +MONDO:0005085 "pterygium" 1 9 0 0 0 0 http://identifiers.org/hgnc/10808 "SGCE" 0 0 0 0 0 0 http://identifiers.org/hgnc/4335 "GLUD1" 0 0 0 0 0 0 MONDO:0020052 "partial autosomal trisomy/tetrasomy" 0 1 0 0 0 0 -MONDO:0007492 "early-onset generalized limb-onset dystonia" 1 10 0 0 0 0 +MONDO:0007492 "early-onset generalized limb-onset dystonia" 1 9 0 0 0 0 CHEBI:15339 "acceptor" 1 0 0 0 0 0 MONDO:0011570 "Charcot-Marie-Tooth disease type 2B2" 1 8 0 0 0 1 MONDO:0000237 "erysipeloid" 1 5 0 0 0 0 -MONDO:0004600 "monocytic leukemia" 0 9 0 0 0 0 +MONDO:0004600 "monocytic leukemia" 0 7 0 0 0 0 MONDO:0015746 "male infertility due to globozoospermia" 1 6 0 0 0 1 MONDO:0011312 "thyroid carcinoma, nonmedullary, with or without cell oxyphilia" 0 5 0 0 0 0 MONDO:0013167 "parkinson disease 16" 0 3 0 0 0 0 @@ -7076,7 +7086,7 @@ MONDO:0100278 "alanine glyoxylate aminotransferase deficiency" 1 0 0 0 0 0 GO:0045616 "regulation of keratinocyte differentiation" 1 0 0 0 0 1 http://identifiers.org/hgnc/10806 "SGCB" 0 0 0 0 0 0 http://identifiers.org/hgnc/5391 "IDUA" 0 0 0 0 0 0 -MONDO:0019409 "idiopathic juvenile osteoporosis" 1 11 0 0 0 0 +MONDO:0019409 "idiopathic juvenile osteoporosis" 1 10 0 0 0 0 MONDO:0006255 "intimal sarcoma" 1 4 0 0 0 0 MONDO:0016768 "obsolete rare mucosal lichen planus" 0 2 0 0 0 0 CHEBI:22691 "barbiturate anion" 0 0 0 0 0 0 @@ -7120,12 +7130,12 @@ MONDO:0005440 "embryonal carcinoma" 1 11 0 0 0 0 MONDO:0007578 "esterase B" 0 1 0 0 0 0 MONDO:0007579 "esterase C" 0 1 0 0 0 0 CL:2000021 "sebaceous gland cell" 1 0 0 0 0 1 -MONDO:0005673 "blind loop syndrome" 1 8 0 0 0 0 +MONDO:0005673 "blind loop syndrome" 1 7 0 0 0 0 GO:1903296 "positive regulation of glutamate secretion, neurotransmission" 1 0 0 0 0 1 MONDO:0008857 "Beemer-Ertbruggen syndrome" 1 7 0 0 0 0 GO:0016874 "ligase activity" 1 0 0 0 0 0 CHEBI:47622 "acetate ester" 1 0 0 0 0 0 -MONDO:0005137 "nutritional disorder" 1 7 0 0 0 0 +MONDO:0005137 "nutritional disorder" 1 8 0 0 0 0 MONDO:0000496 "hemorrhagic cystitis" 1 4 0 0 0 1 MONDO:0100340 "Friedreich ataxia 1" 1 3 0 0 0 0 HP:0009473 "Joint contracture of the hand" 1 3 0 0 0 0 @@ -7134,7 +7144,7 @@ MONDO:0004999 "obsolete chondrosarcoma" 0 0 0 0 0 0 UBERON:0006292 "shoulder joint primordium" 0 0 0 0 0 0 CL:0000843 "follicular B cell" 1 0 0 0 0 0 MONDO:0013020 "narcolepsy 5, susceptibility to" 0 3 0 0 0 0 -MONDO:0005903 "pericardial tuberculosis" 1 7 0 0 0 1 +MONDO:0005903 "pericardial tuberculosis" 1 6 0 0 0 1 MONDO:0016559 "glaucoma secondary to spherophakia/ectopia lentis and megalocornea" 1 5 0 0 0 0 MONDO:0019108 "silent sinus syndrome" 1 4 0 0 0 0 MONDO:0005772 "geotrichosis" 1 7 0 0 0 1 @@ -7157,14 +7167,14 @@ MONDO:0005640 "akinetic mutism" 1 5 0 0 0 0 GO:1903319 "positive regulation of protein maturation" 1 0 0 0 0 1 MONDO:0013919 "epilepsy, idiopathic generalized, susceptibility to, 12" 0 2 0 0 0 0 MONDO:0000524 "mixed extragonadal germ cell cancer" 1 1 0 0 0 1 -MONDO:0008491 "stiff-person syndrome" 1 14 0 0 0 0 +MONDO:0008491 "stiff-person syndrome" 1 13 0 0 0 0 NCBITaxon:37567 "Ditrysia" 0 1 0 0 0 0 MONDO:0021241 "buccal mucosa neoplasm" 1 3 0 0 0 1 MONDO:0012959 "psoriasis 11, susceptibility to" 0 2 0 0 0 0 -MONDO:0016696 "anaplastic oligodendroglioma" 1 12 0 0 0 1 +MONDO:0016696 "anaplastic oligodendroglioma" 1 11 0 0 0 1 CHEBI:46725 "oxide mineral" 0 0 0 0 0 0 MONDO:0015851 "obsolete rare breast malformation" 0 1 0 0 0 0 -MONDO:0027416 "obsolete retinal cone dystrophy 2" 0 1 0 0 0 0 +MONDO:0027416 "obsolete retinal cone dystrophy 2" 0 2 0 0 0 0 MONDO:0013909 "human herpesvirus 8, susceptibility to" 0 1 0 0 0 0 CL:0002338 "CD56-positive, CD161-positive immature natural killer cell, human" 1 0 0 0 0 0 MONDO:0024480 "dermatosis of eyelid" 0 2 0 0 0 0 @@ -7196,7 +7206,7 @@ MONDO:0002882 "colon neuroendocrine neoplasm" 1 4 0 0 0 1 MONDO:0016160 "X-linked intellectual disability-epilepsy syndrome" 0 5 0 0 0 0 MONDO:0015876 "obsolete rare vulvovaginal tumor" 0 2 0 0 0 0 MONDO:0023605 "Laugier-Hunziker syndrome" 0 4 0 0 0 0 -MONDO:0003598 "median nerve neuropathy" 1 6 0 0 0 1 +MONDO:0003598 "median nerve neuropathy" 1 4 0 0 0 1 UBERON:0011368 "brachiocephalic muscle" 0 0 0 0 0 1 http://identifiers.org/hgnc/10805 "SGCA" 0 0 0 0 0 0 GO:1903508 "positive regulation of nucleic acid-templated transcription" 1 0 0 0 0 1 @@ -7211,7 +7221,7 @@ http://identifiers.org/hgnc/4266 "GHRHR" 0 0 0 0 0 0 MONDO:0000402 "small cell carcinoma" 1 9 0 0 0 0 MONDO:0012164 "Meacham syndrome" 1 6 0 0 0 0 NCBITaxon:122354 "Mansonella ozzardi" 0 1 0 0 0 0 -MONDO:0001309 "oculomotor nerve paralysis" 1 7 0 0 0 1 +MONDO:0001309 "oculomotor nerve paralysis" 1 6 0 0 0 1 UBERON:0010886 "hindlimb pre-cartilage condensation" 0 0 0 0 0 1 MONDO:0011498 "schizophrenia 9" 1 3 0 0 0 0 UBERON:0003359 "epithelium of submandibular gland" 0 0 0 0 0 1 @@ -7227,7 +7237,7 @@ CL:0000553 "megakaryocyte progenitor cell" 1 3 0 0 0 0 MONDO:0008335 "short stature-craniofacial anomalies-genital hypoplasia syndrome" 1 7 0 0 0 0 MONDO:0006323 "non-seminomatous lesion" 1 2 0 0 0 0 http://identifiers.org/hgnc/11510 "SYT2" 0 0 0 0 0 0 -MONDO:0012701 "cataract 12 multiple types" 1 6 0 0 0 0 +MONDO:0012701 "cataract 12 multiple types" 1 5 0 0 0 0 MONDO:0011300 "myopia 3, autosomal dominant" 0 3 0 0 0 0 MONDO:0000106 "obsolete apnea" 0 0 0 0 0 0 HP:0002524 "Cataplexy" 1 3 0 0 0 0 @@ -7258,16 +7268,16 @@ MONDO:0016066 "sternal cleft" 1 7 0 0 0 0 MONDO:0008131 "optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant" 0 4 0 0 0 0 MONDO:0005317 "obsolete fatty liver" 0 0 0 0 0 0 MONDO:0018137 "temperature-sensitive oculocutaneous albinism type 1" 1 4 0 0 0 0 -MONDO:0001375 "bladder trigone cancer" 1 5 0 0 0 1 +MONDO:0001375 "bladder trigone cancer" 1 4 0 0 0 1 CL:0000595 "enucleate erythrocyte" 1 0 0 0 0 1 http://identifiers.org/hgnc/4817 "HARS2" 0 0 0 0 0 0 GO:0043891 "glyceraldehyde-3-phosphate dehydrogenase (NAD(P)+) (phosphorylating) activity" 1 0 0 0 0 0 MONDO:0001509 "endocrine exophthalmos" 0 4 0 0 0 0 MONDO:0009130 "Dyggve-Melchior-Clausen disease" 1 9 0 0 0 0 HP:0003560 "Muscular dystrophy" 1 5 0 0 0 0 -MONDO:0017210 "infectious anterior uveitis" 1 11 0 0 0 1 +MONDO:0017210 "infectious anterior uveitis" 1 10 0 0 0 1 MONDO:0003551 "thymic adenosquamous carcinoma" 1 3 0 0 0 1 -MONDO:0015728 "distal trisomy 15q" 0 3 0 0 0 0 +MONDO:0015728 "distal trisomy 15q" 0 2 0 0 0 0 CHEBI:47909 "3-oxo-Delta(4) steroid" 1 0 0 0 0 0 CHR:9606-chr10p "10p (Human)" 0 0 0 0 0 0 MONDO:0004044 "ureter urothelial papilloma" 1 3 0 0 0 1 @@ -7287,7 +7297,7 @@ http://identifiers.org/hgnc/13281 "ESPN" 0 0 0 0 0 0 MONDO:0002947 "adamantinoid basal cell epithelioma" 0 4 0 0 0 0 MONDO:0018385 "osteochondrosis of genetic origin" 1 2 0 0 0 1 MONDO:0000147 "polyposis" 0 2 0 0 0 0 -MONDO:0005480 "contact dermatitis" 1 10 0 0 0 0 +MONDO:0005480 "contact dermatitis" 1 8 0 0 0 0 http://identifiers.org/hgnc/18801 "POGZ" 0 0 0 0 0 0 NCBITaxon:815 "Bacteroidaceae" 0 2 0 0 0 0 CHEBI:32178 "Talc" 0 0 0 0 0 0 @@ -7297,18 +7307,18 @@ HP:0011339 "Abnormality of upper lip vermillion" 1 1 0 0 0 0 MONDO:0003427 "bronchus adenoma" 1 4 0 0 0 1 CL:0000941 "thymic conventional dendritic cell" 1 0 0 0 0 0 MONDO:0016472 "dracunculiasis" 1 11 0 0 0 1 -MONDO:0010269 "Coats disease" 1 12 0 0 0 0 -MONDO:0020572 "complex regional pain syndrome type 2" 1 10 0 0 0 0 +MONDO:0010269 "Coats disease" 1 10 0 0 0 0 +MONDO:0020572 "complex regional pain syndrome type 2" 1 9 0 0 0 0 MONDO:0100372 "disorder of peroxisomal transporter" 1 0 0 0 0 0 http://identifiers.org/hgnc/7179 "ALDH6A1" 0 0 0 0 0 0 MONDO:0008822 "arthrogryposis, renal dysfunction, and cholestasis 1" 1 3 0 0 0 1 MONDO:0000610 "marantic endocarditis" 1 3 0 0 0 0 MONDO:0009334 "hemolytic anemia with thermal sensitivity of red cells" 0 4 0 0 0 0 -MONDO:0001062 "pyloric antrum cancer" 1 5 0 0 0 1 +MONDO:0001062 "pyloric antrum cancer" 1 4 0 0 0 1 http://identifiers.org/hgnc/9816 "RAD50" 0 0 0 0 0 0 UBERON:0006267 "notochordal plate" 0 0 0 0 0 0 MONDO:0032635 "mitochondrial complex 1 deficiency, nuclear type 32" 0 1 0 0 0 1 -MONDO:0005184 "pancreatic ductal adenocarcinoma" 1 9 0 0 0 1 +MONDO:0005184 "pancreatic ductal adenocarcinoma" 1 8 0 0 0 1 MONDO:0017570 "leukocyte adhesion deficiency" 1 11 0 0 0 0 MONDO:0002491 "substance abuse" 1 5 0 0 0 0 MONDO:0032634 "mitochondrial complex 1 deficiency, nuclear type 31" 0 1 0 0 0 1 @@ -7323,7 +7333,7 @@ MONDO:0012348 "maturity-onset diabetes of the young type 8" 1 6 0 0 0 1 GO:0048817 "negative regulation of hair follicle maturation" 1 0 0 0 0 1 http://identifiers.org/hgnc/626 "APRT" 0 0 0 0 0 0 MONDO:0024568 "infantile liver failure syndrome 1" 1 5 0 0 0 1 -MONDO:0001008 "blepharophimosis" 1 6 0 0 0 0 +MONDO:0001008 "blepharophimosis" 1 5 0 0 0 0 HP:0045014 "Hypolipidemia" 0 2 0 0 0 0 MONDO:0008543 "tetralogy of fallot and glaucoma" 0 4 0 0 0 0 MONDO:0032752 "developmental and epileptic encephalopathy, 75" 0 1 0 0 0 0 @@ -7332,7 +7342,7 @@ MONDO:0022404 "retinal ciliopathy due to mutation in usher gene" 0 1 0 0 0 0 MONDO:0006197 "endometrial small cell carcinoma" 1 4 0 0 0 1 PATO:0002302 "decreased process quality" 1 0 0 0 0 1 ECTO:0000163 "exposure to organic cyclic compound" 1 0 0 0 0 1 -MONDO:0006541 "epidermolysis bullosa" 1 10 0 0 0 0 +MONDO:0006541 "epidermolysis bullosa" 1 9 0 0 0 0 GO:0010511 "regulation of phosphatidylinositol biosynthetic process" 1 0 0 0 0 1 MONDO:0003089 "extrahepatic bile duct mucoepidermoid carcinoma" 1 3 0 0 0 1 MONDO:0014280 "immunodeficiency 19" 1 4 0 0 0 1 @@ -7340,7 +7350,7 @@ MONDO:0014833 "heart and brain malformation syndrome" 0 2 0 0 0 0 UBERON:0005704 "secondary palatal shelf mesenchyme" 0 0 0 0 0 1 GO:0002184 "cytoplasmic translational termination" 1 0 0 0 0 1 CHEBI:25195 "mercury atom" 0 0 0 0 0 0 -MONDO:0006682 "brachial plexus neuritis" 1 11 0 0 0 1 +MONDO:0006682 "brachial plexus neuritis" 1 10 0 0 0 1 UBERON:0007285 "presumptive paraxial mesoderm" 0 0 0 0 0 0 UBERON:0000058 "duct" 0 0 0 0 0 0 MONDO:0013760 "congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome" 0 4 0 0 0 0 @@ -7353,7 +7363,7 @@ GO:0031340 "positive regulation of vesicle fusion" 1 0 0 0 0 1 MONDO:0005452 "bulimia nervosa" 1 11 0 0 0 0 UBERON:0003606 "limb long bone" 0 0 0 0 0 1 MONDO:0025163 "white heifer disease" 1 3 0 0 0 0 -MONDO:0044355 "isolated sternocostoclavicular hyperostosis" 1 4 0 0 0 0 +MONDO:0044355 "isolated sternocostoclavicular hyperostosis" 1 3 0 0 0 0 MONDO:0012147 "coronary heart disease, susceptibility to, 5" 1 1 0 0 0 1 HP:0000023 "Inguinal hernia" 1 4 0 0 0 0 GO:0070507 "regulation of microtubule cytoskeleton organization" 1 0 0 0 0 1 @@ -7363,11 +7373,11 @@ UBERON:0003332 "submucosa of duodenum" 0 0 0 0 0 1 MONDO:0004596 "cor pulmonale" 1 6 0 0 0 0 MONDO:0009542 "lysine malabsorption syndrome" 0 3 0 0 0 0 NCBITaxon:7898 "Actinopterygii" 0 1 0 0 0 0 -MONDO:0007284 "cataract 20 multiple types" 1 5 0 0 0 1 +MONDO:0007284 "cataract 20 multiple types" 1 4 0 0 0 1 UBERON:0004449 "cerebral artery" 0 0 0 0 0 1 MONDO:0020240 "syndromic retinitis pigmentosa" 1 2 0 0 0 1 PATO:0001579 "contractility" 1 0 0 0 0 0 -MONDO:0009294 "glycogen storage disease VI" 1 11 0 0 0 1 +MONDO:0009294 "glycogen storage disease VI" 1 10 0 0 0 1 MONDO:0007487 "dyslexia, susceptibility to, 1" 0 1 0 0 0 1 MONDO:0012767 "age related macular degeneration 11" 1 4 0 0 0 1 PO:0025023 "collective phyllome structure" 1 2 0 0 0 0 @@ -7405,7 +7415,7 @@ MONDO:0004009 "kidney pelvis sarcomatoid transitional cell carcinoma" 1 3 0 0 0 MONDO:0026730 "Basilicata-Akhtar syndrome" 0 1 0 0 0 0 MONDO:0008808 "aplasia cutis congenita-intestinal lymphangiectasia syndrome" 1 5 0 0 0 0 MONDO:0004130 "anus basaloid carcinoma" 1 3 0 0 0 1 -MONDO:0014451 "focal segmental glomerulosclerosis 7" 1 5 0 0 0 1 +MONDO:0014451 "focal segmental glomerulosclerosis 7" 1 4 0 0 0 1 CL:0002079 "pancreatic ductal cell" 1 1 0 0 0 1 PCO:0000018 "single-species collection of organisms"@en 1 0 0 0 0 0 GO:0035295 "tube development" 1 0 0 0 0 0 @@ -7416,7 +7426,7 @@ MONDO:0008561 "thumb deformity" 0 4 0 0 0 0 CL:0002605 "astrocyte of the cerebral cortex" 1 0 0 0 0 1 MONDO:0018466 "obsolete hereditary late onset Parkinson disease" 0 0 0 0 0 0 UBERON:0010255 "3rd arch mesenchyme from neural crest" 0 0 0 0 0 1 -MONDO:0017833 "primary hypereosinophilic syndrome" 0 3 0 0 0 0 +MONDO:0017833 "primary hypereosinophilic syndrome" 0 2 0 0 0 0 CHEBI:35481 "non-narcotic analgesic" 1 0 0 0 0 0 MONDO:0012168 "dyslexia, susceptibility to, 8" 0 1 0 0 0 0 GO:0006415 "translational termination" 1 0 0 0 0 0 @@ -7455,7 +7465,7 @@ MONDO:0007115 "angioma serpiginosum, autosomal dominant" 0 5 0 0 0 0 GO:2000181 "negative regulation of blood vessel morphogenesis" 1 0 0 0 0 1 NCBITaxon:7180 "Haemagogus " 0 1 0 0 0 0 MONDO:0007670 "hypotrichosis-lymphedema-telangiectasia syndrome (grouping)" 1 4 0 0 0 0 -MONDO:0006532 "cholesteatoma of external ear" 1 7 0 0 0 1 +MONDO:0006532 "cholesteatoma of external ear" 1 6 0 0 0 1 MONDO:0011515 "obsolete papillary renal cell carcinoma" 0 0 0 0 0 0 MONDO:0030506 "ovarian dysgenesis 9" 0 1 0 0 0 0 UBERON:0010499 "pseudostratified ciliated columnar epithelium" 0 0 0 0 0 1 @@ -7468,7 +7478,7 @@ MONDO:0003824 "hereditary kidney oncocytoma" 1 3 0 0 0 1 ENVO:01001548 "freezing"@en 1 0 0 0 0 0 GO:1902490 "regulation of sperm capacitation" 1 0 0 0 0 1 MONDO:0010580 "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome" 1 10 0 0 0 0 -MONDO:0012847 "autosomal recessive congenital ichthyosis 6" 1 6 0 0 0 1 +MONDO:0012847 "autosomal recessive congenital ichthyosis 6" 1 5 0 0 0 1 MONDO:0003087 "mucoepidermoid breast carcinoma" 1 3 0 0 0 1 MONDO:0018936 "osteoblastoma" 1 17 0 0 0 0 GO:0018215 "protein phosphopantetheinylation" 1 0 0 0 0 0 @@ -7480,7 +7490,7 @@ GO:0033006 "regulation of mast cell activation involved in immune response" 1 0 MONDO:0008859 "berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification" 0 4 0 0 0 0 MONDO:0009561 "alpha-mannosidosis" 1 10 0 0 0 0 MONDO:0008528 "tear protein, anodal" 0 2 0 0 0 0 -MONDO:0016301 "congenitally corrected transposition of the great arteries" 1 9 0 0 0 0 +MONDO:0016301 "congenitally corrected transposition of the great arteries" 1 8 0 0 0 0 MONDO:0013486 "spinocerebellar ataxia type 32" 1 6 0 0 0 0 MONDO:0003570 "lipid-rich carcinoma" 1 4 0 0 0 0 MONDO:0009145 "SchC6pf-Schulz-Passarge syndrome" 1 8 0 0 0 0 @@ -7488,7 +7498,7 @@ http://identifiers.org/hgnc/1787 "CDKN2A" 0 0 0 0 0 0 MONDO:0014326 "nemaline myopathy 9" 1 4 0 0 0 1 CHEBI:46883 "carboxy group" 0 0 0 0 0 0 MONDO:0009682 "muscular dystrophy, congenital, with rapid progression" 0 3 0 0 0 0 -MONDO:0015814 "primary cutaneous follicle center lymphoma" 1 7 0 0 0 0 +MONDO:0015814 "primary cutaneous follicle center lymphoma" 1 6 0 0 0 0 MONDO:0014272 "palmoplantar keratoderma, Nagashima type" 1 5 0 0 0 0 http://identifiers.org/hgnc/8885 "PGA3" 0 0 0 0 0 0 UBERON:0010551 "pedal digit 5 metatarsal pre-cartilage condensation" 0 0 0 0 0 1 @@ -7498,7 +7508,7 @@ MONDO:0009836 "pancreatitis, sclerosing cholangitis, and sicca complex" 0 3 0 0 PATO:0001656 "decreased osmolarity" 1 0 0 0 0 1 MONDO:0009749 "giant axonal neuropathy 1" 1 7 0 0 0 1 UBERON:0004830 "respiratory system skeletal muscle" 0 0 0 0 0 1 -MONDO:0005295 "intermittent vascular claudication" 1 7 0 0 0 0 +MONDO:0005295 "intermittent vascular claudication" 1 6 0 0 0 0 MONDO:0016178 "obsolete peripheral neuropathy associated with monoclonal gammopathy" 0 1 0 0 0 0 ENVO:02000100 "mineral dust" 1 0 0 0 0 1 GO:1902340 "negative regulation of chromosome condensation" 1 0 0 0 0 1 @@ -7513,7 +7523,7 @@ MONDO:0011432 "blepharophimosis - intellectual disability syndrome, Verloes type NCBITaxon:32524 "Amniota" 0 1 0 0 0 0 http://identifiers.org/hgnc/6953 "CD46" 0 0 0 0 0 0 HP:0002134 "Abnormality of the basal ganglia" 1 3 0 0 0 0 -MONDO:0002009 "major depressive disorder" 1 23 0 0 0 0 +MONDO:0002009 "major depressive disorder" 1 20 0 0 0 0 MONDO:0013477 "hypertrophic cardiomyopathy 20" 1 3 0 0 0 1 http://identifiers.org/hgnc/3341 "EMX2" 0 0 0 0 0 0 GO:1903294 "regulation of glutamate secretion, neurotransmission" 1 0 0 0 0 1 @@ -7525,6 +7535,7 @@ MONDO:0017313 "disorder of folate metabolism and transport" 0 2 0 0 0 0 http://identifiers.org/hgnc/6235 "KCNC3" 0 0 0 0 0 0 MONDO:0017550 "humero-radial synostosis, unilateral" 0 2 0 0 0 0 MONDO:0022909 "cutis laxa osteoporosis" 0 1 0 0 0 0 +MONDO:0011692 "obsolete basal ganglia calcification, idiopathic, 2" 0 0 0 0 0 0 MONDO:0017076 "posterior meningocele" 1 10 0 0 0 0 MONDO:0008799 "anophthalmia/microphthalmia-esophageal atresia syndrome" 1 6 0 0 0 0 MONDO:0016641 "limb transversal defect-cardiac anomaly syndrome" 0 4 0 0 0 0 @@ -7553,6 +7564,7 @@ http://identifiers.org/hgnc/10882 "SIM1" 0 0 0 0 0 0 MONDO:0009990 "Revesz syndrome" 1 8 0 0 0 0 MONDO:0015051 "tubular duplication of the esophagus" 1 2 0 0 0 0 MONDO:0016320 "obsolete rare hereditary thrombophilia" 0 2 0 0 0 0 +MONDO:0017412 "obsolete 2q31.1 microduplication syndrome" 0 0 0 0 0 0 MONDO:0018898 "primary cutaneous lymphoma" 1 5 0 0 0 0 http://identifiers.org/hgnc/13210 "ARL6" 0 0 0 0 0 0 MONDO:0017090 "midline cerebral malformation" 0 2 0 0 0 0 @@ -7579,23 +7591,24 @@ UBERON:0035650 "nerve of clitoris" 0 0 0 0 0 1 GO:1901503 "ether biosynthetic process" 1 0 0 0 0 0 MONDO:0008014 "nondisjunction" 0 2 0 0 0 0 GO:0050432 "catecholamine secretion" 1 0 0 0 0 0 -MONDO:0001906 "posterior dislocation of lens" 0 5 0 0 0 0 +MONDO:0001906 "posterior dislocation of lens" 0 4 0 0 0 0 MONDO:0013053 "microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type" 1 6 0 0 0 0 -MONDO:0001615 "epidemic keratoconjunctivitis" 1 6 0 0 0 1 +MONDO:0001615 "epidemic keratoconjunctivitis" 1 5 0 0 0 1 MONDO:0002038 "head and neck carcinoma" 1 4 0 0 0 1 NCBITaxon:151341 "Polyomaviridae" 0 1 0 0 0 0 CHR:9606-chr5q2 "5q2 (Human)" 0 0 0 0 0 0 MONDO:0008071 "autosomal dominant progressive nephropathy with hypertension" 0 8 0 0 0 0 MONDO:0011469 "congenital amegakaryocytic thrombocytopenia" 1 10 0 0 0 0 -MONDO:0003210 "intrahepatic cholangiocarcinoma" 1 9 0 0 0 1 +MONDO:0003210 "intrahepatic cholangiocarcinoma" 1 8 0 0 0 1 MONDO:0018572 "severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome" 0 3 0 0 0 0 UBERON:0003098 "optic stalk" 0 0 0 0 0 0 MONDO:0014368 "melanoma, cutaneous malignant, susceptibility to, 10" 0 2 0 0 0 1 -MONDO:0001578 "hernia of ovary and fallopian tube" 0 3 0 0 0 0 +http://identifiers.org/hgnc/11577 "TAFAZZIN" 0 0 0 0 0 0 +MONDO:0001578 "hernia of ovary and fallopian tube" 0 2 0 0 0 0 MONDO:0014683 "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9" 0 5 0 0 0 0 MONDO:0018499 "double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy" 0 2 0 0 0 0 HP:0100806 "Sepsis" 1 2 0 0 0 0 -MONDO:0013293 "isolated microphthalmia 6" 1 5 0 0 0 1 +MONDO:0013293 "isolated microphthalmia 6" 1 4 0 0 0 1 GO:2000147 "positive regulation of cell motility" 1 0 0 0 0 1 UBERON:0004400 "bone tissue of epiphysis" 0 0 0 0 0 1 MONDO:0019345 "shigellosis" 1 22 0 0 0 1 @@ -7610,7 +7623,7 @@ UBERON:8410033 "lymph node vein" 0 0 0 0 0 1 UBERON:0009098 "gravid uterus" 0 0 0 0 0 1 CL:0002068 "Purkinje myocyte" 1 2 0 0 0 0 MONDO:0018225 "ALK-positive large B-cell lymphoma" 1 6 0 0 0 0 -MONDO:0024355 "respiratory tract infectious disorder" 1 3 0 0 0 1 +MONDO:0024355 "respiratory tract infectious disorder" 1 5 0 0 0 1 MONDO:0009823 "primary hyperoxaluria type 1" 1 11 0 0 0 1 MONDO:0011340 "congenital tracheal stenosis" 0 7 0 0 0 0 MONDO:0002809 "pancreatic cystadenoma" 1 4 0 0 0 1 @@ -7626,6 +7639,7 @@ CL:2000059 "prostate gland microvascular endothelial cell" 1 0 0 0 0 1 GO:1901700 "response to oxygen-containing compound" 1 0 0 0 0 0 MONDO:0011950 "infantile-onset autosomal recessive nonprogressive cerebellar ataxia" 0 7 0 0 0 0 CL:0002319 "neural cell" 1 2 0 0 0 1 +MONDO:0013586 "obsolete Chitotriosidase deficiency" 0 2 0 0 0 0 http://identifiers.org/hgnc/9896 "RBM10" 0 0 0 0 0 0 CL:2000085 "mononuclear cell of umbilical cord" 1 0 0 0 0 1 UBERON:0002333 "pulmonary trunk" 0 0 0 0 0 0 @@ -7635,7 +7649,7 @@ CHEBI:33285 "heteroorganic entity" 1 0 0 0 0 0 MONDO:0037871 "amino acid metabolism disease" 1 2 0 0 0 1 MONDO:0015239 "abnormal origin of the pulmonary artery" 0 3 0 0 0 0 MONDO:0025193 "oculopharyngodistal myopathy" 1 7 0 0 0 0 -MONDO:0011186 "Usher syndrome type 1F" 1 7 0 0 0 0 +MONDO:0011186 "Usher syndrome type 1F" 1 6 0 0 0 0 UBERON:0012303 "ureteral orifice" 0 0 0 0 0 0 MONDO:0011352 "neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia" 0 3 0 0 0 0 MONDO:0021327 "carcinoma of urethra" 1 2 0 0 0 1 @@ -7649,11 +7663,11 @@ MONDO:0045071 "mycosis fungoides variant" 0 2 0 0 0 0 http://identifiers.org/hgnc/6293 "KCNN4" 0 0 0 0 0 0 MONDO:0018114 "isolated brachycephaly" 1 5 0 0 0 0 IAO:8000016 "taxonomic bridge ontology module"@en 0 0 0 0 0 0 -MONDO:0012412 "complement component 7 deficiency" 1 6 0 0 0 1 +MONDO:0012412 "complement component 7 deficiency" 1 5 0 0 0 1 MONDO:0100279 "peroxisome biogenesis disorder due to PEX11B defect" 1 0 0 0 0 0 MONDO:0007477 "3-M syndrome" 1 11 0 0 0 0 MONDO:0009824 "primary hyperoxaluria type 2" 1 11 0 0 0 1 -MONDO:0005737 "Ebola hemorrhagic fever" 1 10 0 0 0 1 +MONDO:0005737 "Ebola hemorrhagic fever" 1 9 0 0 0 1 MONDO:0007176 "helicoid peripapillary chorioretinal degeneration" 1 7 0 0 0 0 CHEBI:46965 "(2R,3S)-2-aminooctadec-4-ene-1,3-diol" 1 0 0 0 0 0 MONDO:0045055 "glycogen-rich carcinoma" 1 1 0 0 0 0 @@ -7667,7 +7681,7 @@ MONDO:0032629 "mitochondrial complex 1 deficiency, nuclear type 25" 0 1 0 0 0 1 UBERON:0004087 "vena cava" 0 0 0 0 0 0 MONDO:0002716 "childhood spinal cord tumor" 1 3 0 0 0 1 MONDO:0010995 "Charcot-Marie-Tooth disease type 1C" 1 7 0 0 0 1 -MONDO:0002443 "bruxism" 1 6 0 0 0 0 +MONDO:0002443 "bruxism" 1 4 0 0 0 0 MONDO:0100321 "viral disease or post-viral disorder" 1 0 0 0 0 1 MONDO:0011316 "osteosclerotic chondrodysplasia, lethal, with intracellular inclusions" 0 3 0 0 0 0 NCBITaxon:32594 "Babesiidae" 0 1 0 0 0 0 @@ -7702,7 +7716,7 @@ CHEBI:59871 "D-alpha-amino acid zwitterion" 1 0 0 0 0 0 MONDO:0015503 "nose and cavum anomaly" 0 7 0 0 0 0 UBERON:0004053 "external male genitalia" 0 0 0 0 0 1 http://identifiers.org/hgnc/1516 "CAT" 0 0 0 0 0 0 -MONDO:0003276 "middle ear disorder" 1 4 0 0 0 1 +MONDO:0003276 "middle ear disorder" 1 5 0 0 0 1 MONDO:0012568 "osteoarthritis susceptibility 4" 0 2 0 0 0 0 MONDO:0100244 "paroxysmal nocturnal hemoglobinuria" 1 2 0 0 0 0 MONDO:0008257 "platelet responsiveness to adrenaline, depressed" 0 1 0 0 0 0 @@ -7718,7 +7732,7 @@ MONDO:0010235 "X-linked intellectual disability-psychosis-macroorchidism syndrom MONDO:0012146 "familial hemophagocytic lymphohistiocytosis 3" 1 5 0 0 0 1 GO:1904364 "positive regulation of calcitonin secretion" 1 0 0 0 0 1 PO:0009002 "plant cell" 1 2 0 0 0 0 -MONDO:0018872 "acute megakaryoblastic leukemia" 1 15 0 0 0 0 +MONDO:0018872 "acute megakaryoblastic leukemia" 1 14 0 0 0 0 MONDO:0019020 "PANDAS" 1 4 0 0 0 0 GO:0006820 "anion transport" 1 0 0 0 0 0 MONDO:0044098 "ovarian ectopic pregnancy" 1 3 0 0 0 1 @@ -7751,7 +7765,7 @@ NCBITaxon:2169701 "Onyong-nyong virus" 0 1 0 0 0 0 NCBITaxon:10279 "Molluscum contagiosum virus" 0 1 0 0 0 0 MONDO:0000220 "obsolete anterior segment dysgenesis" 0 0 0 0 0 0 ECTO:0001082 "exposure to alcohol consumption" 1 0 0 0 0 1 -MONDO:0012360 "congenital nongoitrous hypothryoidism 3" 1 6 0 0 0 0 +MONDO:0012360 "congenital nongoitrous hypothryoidism 3" 1 5 0 0 0 0 MONDO:0004198 "testicular yolk sac tumor, solid pattern" 1 3 0 0 0 0 MONDO:0010652 "X-linked intellectual disability-seizures-psoriasis syndrome" 1 6 0 0 0 0 MONDO:0017504 "apodia, unilateral" 0 2 0 0 0 0 @@ -7764,7 +7778,7 @@ MONDO:0003560 "obsolete adenosquamous pancreas carcinoma" 0 0 0 0 0 0 MONDO:0015220 "obsolete syndrome with a central nervous system malformation as major feature" 0 2 0 0 0 0 MONDO:0007459 "dilution, pigmentary" 0 4 0 0 0 0 MONDO:0019163 "obsolete pseudoxanthoma elasticum" 0 0 0 0 0 0 -MONDO:0008644 "velocardiofacial syndrome" 1 7 0 0 0 0 +MONDO:0008644 "velocardiofacial syndrome" 1 6 0 0 0 0 MONDO:0016600 "acute neonatal citrullinemia type I" 1 3 0 0 0 1 http://identifiers.org/hgnc/4415 "GNMT" 0 0 0 0 0 0 MONDO:0014021 "familial episodic pain syndrome with predominantly upper body involvement" 0 6 0 0 0 0 @@ -7774,7 +7788,7 @@ http://identifiers.org/hgnc/6169 "ITIH4" 0 0 0 0 0 0 MONDO:0032729 "intellectual developmental disorder, autosomal recessive 70" 0 1 0 0 0 0 MONDO:0033636 "mitochondrial complex 4 deficiency, nuclear type 4" 0 1 0 0 0 0 MONDO:0003261 "papillary meningioma of the cerebellum" 1 3 0 0 0 1 -MONDO:0013015 "Brugada syndrome 5" 1 6 0 0 0 1 +MONDO:0013015 "Brugada syndrome 5" 1 5 0 0 0 1 MONDO:0001133 "malignant essential hypertension" 1 5 0 0 0 0 MONDO:0012186 "Fanconi anemia complementation group I" 1 5 0 0 0 0 MONDO:0012187 "Fanconi anemia complementation group J" 1 5 0 0 0 0 @@ -7800,7 +7814,7 @@ MONDO:0020731 "arbovirus infection" 1 5 0 0 0 1 GO:0033273 "response to vitamin" 1 0 0 0 0 0 MONDO:0021527 "benign neoplasm of meninges" 1 4 0 0 0 1 GO:0033602 "negative regulation of dopamine secretion" 1 0 0 0 0 1 -MONDO:0003618 "pyosalpinx" 1 5 0 0 0 0 +MONDO:0003618 "pyosalpinx" 1 4 0 0 0 0 http://identifiers.org/hgnc/32952 "SNORD118" 0 0 0 0 0 0 UBERON:0005788 "lamina rara interna" 0 0 0 0 0 1 MONDO:0017558 "congenital elbow dislocation, unilateral" 0 2 0 0 0 0 @@ -7846,11 +7860,11 @@ GO:0051224 "negative regulation of protein transport" 1 0 0 0 0 1 HP:0001959 "Polydipsia" 1 4 0 0 0 0 MONDO:0000184 "obsolete congenital vitamin K-dependent coagulation factors combined deficiency" 0 0 0 0 0 0 MONDO:0006060 "nasopharyngeal squamous cell carcinoma" 1 1 0 0 0 0 -MONDO:0003689 "familial hemolytic anemia" 1 8 0 0 0 1 +MONDO:0003689 "familial hemolytic anemia" 1 7 0 0 0 1 MONDO:0012224 "febrile seizures, familial, 6" 0 4 0 0 0 0 HP:0008035 "Retinitis pigmentosa inversa" 1 1 0 0 0 0 -MONDO:0009441 "autosomal recessive congenital ichthyosis 1" 1 9 0 0 0 1 -MONDO:0005160 "aortic aneurysm" 1 24 0 0 0 0 +MONDO:0009441 "autosomal recessive congenital ichthyosis 1" 1 8 0 0 0 1 +MONDO:0005160 "aortic aneurysm" 1 19 0 0 0 0 http://identifiers.org/hgnc/2536 "CTSK" 0 0 0 0 0 0 GO:1903336 "negative regulation of vacuolar transport" 1 0 0 0 0 1 MONDO:0005703 "obsolete Churg-Strauss syndrome" 0 0 0 0 0 0 @@ -7875,7 +7889,7 @@ MONDO:0003640 "verruciform xanthoma of skin" 1 5 0 0 0 0 UBERON:0004198 "comma-shaped body" 0 0 0 0 0 0 MONDO:0013694 "intellectual disability, autosomal recessive 31" 0 2 0 0 0 0 MONDO:0032715 "intellectual developmental disorder, autosomal recessive 69" 0 1 0 0 0 0 -MONDO:0004758 "scotoma" 1 10 0 0 0 0 +MONDO:0004758 "scotoma" 1 7 0 0 0 0 MONDO:0006989 "suppurative periapical periodontitis" 1 5 0 0 0 0 UBERON:0003414 "mesenchyme of mandible" 0 0 0 0 0 1 MONDO:0017199 "osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome" 1 4 0 0 0 0 @@ -7892,7 +7906,7 @@ MONDO:0019769 "X-linked intellectual disability, Sutherland-Haan type" 0 2 0 0 0 MONDO:0000368 "extrapulmonary tuberculosis" 1 3 0 0 0 0 CHEBI:51039 "dopamine uptake inhibitor" 1 0 0 0 0 0 MONDO:0016724 "papillary tumor of the pineal region" 1 7 0 0 0 0 -MONDO:0002017 "olivopontocerebellar atrophy" 1 8 0 0 0 0 +MONDO:0002017 "olivopontocerebellar atrophy" 1 7 0 0 0 0 UBERON:0003128 "cranium" 0 0 0 0 0 0 UBERON:0013752 "diaphysis of metacarpal bone" 0 0 0 0 0 1 MONDO:0012659 "age related macular degeneration 9" 1 4 0 0 0 1 @@ -7913,8 +7927,8 @@ http://identifiers.org/hgnc/23564 "MIR17HG" 0 0 0 0 0 0 MONDO:0021125 "disease characteristic" 1 1 0 0 0 0 MONDO:0014979 "myoclonus, intractable, neonatal" 0 2 0 0 0 0 MONDO:0007946 "jaw-winking syndrome" 1 11 0 0 0 0 -MONDO:0005392 "scoliosis" 1 9 0 0 0 0 -MONDO:0005148 "type 2 diabetes mellitus" 1 14 0 0 0 0 +MONDO:0005392 "scoliosis" 1 8 0 0 0 0 +MONDO:0005148 "type 2 diabetes mellitus" 1 13 0 0 0 0 MONDO:0009554 "3MC syndrome 3" 1 6 0 0 0 1 http://identifiers.org/hgnc/28422 "TSEN2" 0 0 0 0 0 0 MONDO:0033621 "spinal muscular atrophy, infantile, James type" 0 1 0 0 0 0 @@ -7922,9 +7936,9 @@ UBERON:0014640 "occipital gyrus" 0 0 0 0 0 1 MONDO:0016024 "shoulder and thorax deformity-congenital heart disease syndrome" 0 2 0 0 0 0 GO:0006757 "ATP generation from ADP" 1 0 0 0 0 0 UBERON:0011596 "future lower lip" 0 0 0 0 0 0 -MONDO:0100022 "neonatal/infantile epilepsy syndrome" 1 1 0 0 0 0 +MONDO:0100022 "neonatal/infantile epilepsy syndrome" 1 0 0 0 0 0 MONDO:0001888 "anus lymphoma" 1 3 0 0 0 1 -MONDO:0004736 "inherited amino acid metabolic disorder" 1 7 0 0 0 1 +MONDO:0004736 "inherited amino acid metabolic disorder" 1 6 0 0 0 1 GO:0045917 "positive regulation of complement activation" 1 0 0 0 0 1 http://identifiers.org/hgnc/6427 "KRT17" 0 0 0 0 0 0 MONDO:0004470 "obsolete osteochondrosis" 0 0 0 0 0 0 @@ -7934,7 +7948,8 @@ MONDO:0000185 "obsolete polyposis syndrome, hereditary mixed" 0 0 0 0 0 0 MONDO:0009455 "immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes" 0 3 0 0 0 0 MONDO:0018203 "LMNA-related cardiocutaneous progeria syndrome" 1 3 0 0 0 0 NCBITaxon:1980442 "Orthohantavirus" 0 1 0 0 0 0 -MONDO:0018525 "solid pseudopapillary carcinoma of pancreas" 1 11 0 0 0 0 +MONDO:0018525 "solid pseudopapillary carcinoma of pancreas" 1 6 0 0 0 0 +MONDO:0016946 "obsolete partial trisomy of the short arm of chromosome 9" 0 0 0 0 0 0 MONDO:0013261 "dilated cardiomyopathy 1R" 1 4 0 0 0 1 MONDO:0003314 "endometrioid stromal and related neoplasms of the vagina" 1 3 0 0 0 1 UBERON:0005670 "greater omentum mesothelium" 0 0 0 0 0 1 @@ -7946,14 +7961,15 @@ MONDO:0013841 "stuttering, familial persistent, 3" 0 2 0 0 0 0 GO:1904062 "regulation of cation transmembrane transport" 1 0 0 0 0 1 NCBITaxon:91827 "Gunneridae" 0 1 0 0 0 0 MONDO:0017669 "obsolete disease with diffuse palmoplantar keratoderma as a major feature" 0 2 0 0 0 0 -MONDO:0015726 "distal trisomy 14q" 0 4 0 0 0 0 -MONDO:0009050 "Cushing disease due to pituitary adenoma" 1 14 0 0 0 0 -MONDO:0019453 "refractory cytopenia with multilineage dysplasia" 1 9 0 0 0 0 +MONDO:0015726 "distal trisomy 14q" 0 3 0 0 0 0 +MONDO:0009050 "Cushing disease due to pituitary adenoma" 1 13 0 0 0 0 +MONDO:0019453 "refractory cytopenia with multilineage dysplasia" 1 8 0 0 0 0 MONDO:0018425 "Huntington disease-like syndrome due to C9ORF72 expansions" 0 3 0 0 0 0 UBERON:0008811 "intromittent organ" 0 0 0 0 0 0 MONDO:0014410 "spinocerebellar ataxia type 37" 1 8 0 0 0 0 http://identifiers.org/hgnc/11183 "SON" 0 0 0 0 0 0 MONDO:0021541 "hemangioma of retina" 1 4 0 0 0 1 +MONDO:0020050 "obsolete autosomal trisomy" 0 6 0 0 0 0 MONDO:0006073 "adenomatoid odontogenic tumor" 1 4 0 0 0 0 MONDO:0032844 "infantile liver failure syndrome 3" 0 1 0 0 0 0 UBERON:0012425 "striated border microvillus layer" 0 0 0 0 0 0 @@ -7976,7 +7992,7 @@ MONDO:0021758 "acquired agranulocytosis" 1 3 0 0 0 0 MONDO:0008570 "thyrotoxic periodic paralysis, susceptibility to, 1" 1 3 0 0 0 1 MONDO:0019077 "warty dyskeratoma" 1 5 0 0 0 0 MONDO:0003951 "scrotal hemangioma" 1 3 0 0 0 1 -MONDO:0007569 "erythema nodosum, familial" 0 4 0 0 0 0 +MONDO:0007569 "erythema nodosum, familial" 0 5 0 0 0 0 MONDO:0022993 "dipsogenic diabetes insipidus" 1 5 0 0 0 1 MONDO:0013300 "commissural facial cleft" 1 6 0 0 0 0 http://identifiers.org/hgnc/9069 "PLEC" 0 0 0 0 0 0 @@ -7985,7 +8001,6 @@ BFO:0000002 "continuant" 2 0 0 0 0 0 MONDO:0019938 "anorectal malformation" 0 4 0 0 0 0 http://identifiers.org/hgnc/7908 "NPHS1" 0 0 0 0 0 0 GO:0040012 "regulation of locomotion" 1 0 0 0 0 1 -MONDO:0013799 "efavirenz, poor metabolism of" 0 1 0 0 0 0 MONDO:0011306 "muscular dystrophy, congenital, with cerebellar atrophy" 0 3 0 0 0 0 GO:0045738 "negative regulation of DNA repair" 1 0 0 0 0 1 http://identifiers.org/hgnc/24891 "DCAF8" 0 0 0 0 0 0 @@ -8004,7 +8019,7 @@ MONDO:0019290 "hypopigmentation of the skin" 1 4 0 0 0 1 MONDO:0003423 "middle ear adenoma" 1 4 0 0 0 1 http://identifiers.org/hgnc/26926 "JAGN1" 0 0 0 0 0 0 MONDO:0018671 "IgG4-related kidney disease" 0 3 0 0 0 0 -MONDO:0010962 "diffuse nonepidermolytic palmoplantar keratoderma" 1 4 0 0 0 1 +MONDO:0010962 "diffuse nonepidermolytic palmoplantar keratoderma" 1 13 0 0 0 1 MONDO:0015974 "severe combined immunodeficiency" 1 14 0 0 0 0 MONDO:0020560 "atypical teratoid rhabdoid tumor" 1 10 0 0 0 1 UBERON:0000459 "uterine wall" 0 0 0 0 0 1 @@ -8018,11 +8033,11 @@ MONDO:0011815 "hypertension, essential, susceptibility to, 3" 0 2 0 0 0 0 MONDO:0012062 "dilated cardiomyopathy 1O" 1 5 0 0 0 1 MONDO:0015031 "extraneural perineurioma" 1 3 0 0 0 0 MONDO:0030046 "neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity" 0 1 0 0 0 0 -MONDO:0006656 "aortitis" 1 8 0 0 0 1 +MONDO:0006656 "aortitis" 1 7 0 0 0 1 UBERON:0014769 "palpebral vein" 0 0 0 0 0 1 MONDO:0005292 "colitis" 1 10 0 0 0 1 MONDO:0009905 "urban-Rogers-Meyer syndrome" 1 7 0 0 0 0 -MONDO:0001142 "salivary gland disorder" 1 8 0 0 0 1 +MONDO:0001142 "salivary gland disorder" 1 9 0 0 0 1 MONDO:0000998 "obsolete parotid disease" 0 0 0 0 0 0 MONDO:0003108 "cervicomedullary junction neoplasm" 0 3 0 0 0 0 http://identifiers.org/hgnc/924 "B4GALT1" 0 0 0 0 0 0 @@ -8067,21 +8082,21 @@ MONDO:0042965 "Machado-Joseph disease type 5" 1 1 0 0 0 0 MONDO:0006419 "small intestinal intraepithelial neoplasia" 1 3 0 0 0 1 UBERON:0003588 "forelimb connective tissue" 0 0 0 0 0 1 GO:0016454 "C-palmitoyltransferase activity" 1 0 0 0 0 0 -MONDO:0020831 "congenital vertebral-cardiac-renal anomalies syndrome" 0 2 0 0 0 0 +MONDO:0020831 "congenital vertebral-cardiac-renal anomalies syndrome" 0 4 0 0 0 0 MONDO:0014580 "intellectual disability, autosomal dominant 33" 1 3 0 0 0 1 MONDO:0023167 "focal alopecia congenital megalencephaly" 0 1 0 0 0 0 MONDO:0007952 "maxillofacial dysostosis" 0 4 0 0 0 0 MONDO:0001740 "cornea squamous cell carcinoma" 1 4 0 0 0 1 UBERON:0004115 "blood vessel of tympanic cavity" 0 0 0 0 0 1 MONDO:0008976 "chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome" 0 3 0 0 0 0 -MONDO:0011974 "retinitis pigmentosa 7" 1 6 0 0 0 1 +MONDO:0011974 "retinitis pigmentosa 7" 1 5 0 0 0 1 MONDO:0006400 "salivary gland acinic cell carcinoma" 1 3 0 0 0 0 MONDO:0020349 "acute motor axonal neuropathy" 1 6 0 0 0 0 -MONDO:0004948 "B-cell chronic lymphocytic leukemia" 1 18 0 0 0 0 +MONDO:0004948 "B-cell chronic lymphocytic leukemia" 1 17 0 0 0 0 UBERON:0003281 "mesentery of stomach" 0 0 0 0 0 1 MONDO:0013262 "dilated cardiomyopathy 1S" 1 6 0 0 0 1 MONDO:0015789 "obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations" 0 2 0 0 0 0 -MONDO:0013175 "retinitis pigmentosa 50" 1 4 0 0 0 1 +MONDO:0013175 "retinitis pigmentosa 50" 1 3 0 0 0 1 http://identifiers.org/hgnc/3363 "ENTPD1" 0 0 0 0 0 0 UBERON:0010162 "post-anal tail tip" 0 0 0 0 0 1 http://identifiers.org/hgnc/25443 "C19orf12" 0 0 0 0 0 0 @@ -8090,7 +8105,7 @@ NCBITaxon:9963 "Caprinae" 0 1 0 0 0 0 MONDO:0001883 "blue toe syndrome" 1 3 0 0 0 0 MONDO:0013073 "palmoplantar keratoderma, nonepidermolytic, focal 1" 1 2 0 0 0 0 UBERON:0006273 "otic pit" 0 0 0 0 0 0 -MONDO:0006507 "hereditary hemochromatosis" 1 11 0 0 0 0 +MONDO:0006507 "hereditary hemochromatosis" 1 9 0 0 0 0 UBERON:0010313 "neural crest-derived structure" 0 0 0 0 0 1 MONDO:0013844 "stuttering, familial persistent, 4" 0 2 0 0 0 0 MONDO:0014417 "spinocerebellar ataxia type 38" 1 9 0 0 0 0 @@ -8103,7 +8118,7 @@ MONDO:0019750 "obsolete rare renal disease" 1 2 0 0 0 0 MONDO:0024563 "herpes simplex encephalitis, susceptibility to, 1" 1 2 0 0 0 1 GO:0055072 "iron ion homeostasis" 1 0 0 0 0 0 MONDO:0002768 "true hermaphroditism" 1 7 0 0 0 0 -MONDO:0004652 "bacterial pneumonia" 1 9 0 0 0 1 +MONDO:0004652 "bacterial pneumonia" 1 8 0 0 0 1 ENVO:01001311 "solid surface layer"@en 1 0 0 0 0 1 MONDO:0017920 "deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome" 1 6 0 0 0 0 MONDO:0007782 "hyperthermia, cutaneous, with headaches and nausea" 0 3 0 0 0 0 @@ -8123,7 +8138,7 @@ GO:0065010 "extracellular membrane-bounded organelle" 1 0 0 0 0 1 http://identifiers.org/hgnc/8907 "PGM3" 0 0 0 0 0 0 MONDO:0004738 "histidine metabolism disease" 1 2 0 0 0 1 MONDO:0021207 "Crohn jejunitis" 1 2 0 0 0 1 -MONDO:0004001 "compartment syndrome" 1 9 0 0 0 0 +MONDO:0004001 "compartment syndrome" 1 8 0 0 0 0 MONDO:0033012 "erythrokeratodermia variabilis et progressiva 2" 0 4 0 0 0 0 MONDO:0033014 "erythrokeratodermia variabilis et progressiva 4" 0 4 0 0 0 0 MONDO:0024294 "skin disorder caused by infection" 1 1 0 0 0 1 @@ -8140,7 +8155,7 @@ GO:0030186 "melatonin metabolic process" 1 0 0 0 0 0 MONDO:0000939 "intracranial abscess" 1 5 0 0 0 0 UBERON:0012080 "patella cartilage element" 0 0 0 0 0 1 MONDO:0013782 "pseudohypoaldosteronism type 2E" 1 5 0 0 0 1 -MONDO:0001177 "anorectal stricture" 0 4 0 0 0 0 +MONDO:0001177 "anorectal stricture" 0 3 0 0 0 0 MONDO:0024953 "lameness, non-human animal" 1 1 0 0 0 0 UBERON:0007385 "pectoral appendage lymph vessel" 0 0 0 0 0 1 MONDO:0004729 "dyskinesia of esophagus" 1 7 0 0 0 0 @@ -8153,7 +8168,7 @@ MONDO:0015936 "obsolete rare tumor of endocrine glands" 1 1 0 0 0 0 MONDO:0032633 "mitochondrial complex 1 deficiency, nuclear type 29" 0 1 0 0 0 1 MONDO:0006508 "obsolete infantile epileptic encephalopathy" 0 0 0 0 0 0 GO:0009150 "purine ribonucleotide metabolic process" 1 0 0 0 0 0 -MONDO:0010385 "X-linked lymphoproliferative disease due to XIAP deficiency" 1 9 0 0 0 1 +MONDO:0010385 "X-linked lymphoproliferative disease due to XIAP deficiency" 1 8 0 0 0 1 MONDO:0020593 "trichoblastoma" 1 2 0 0 0 0 MONDO:0012063 "ulnar/fibula ray defect-brachydactyly syndrome" 1 5 0 0 0 0 MONDO:0013996 "focal facial dermal dysplasia type II" 1 5 0 0 0 0 @@ -8190,7 +8205,7 @@ PO:0008028 "reproductive shoot apical meristem" 1 1 0 0 0 0 http://identifiers.org/hgnc/877 "ALDH7A1" 0 0 0 0 0 0 MONDO:0012732 "tremor, hereditary essential, and idiopathic normal pressure hydrocephalus" 0 3 0 0 0 0 GO:0010185 "regulation of cellular defense response" 1 0 0 0 0 1 -MONDO:0010627 "X-linked lymphoproliferative syndrome" 1 12 0 0 0 1 +MONDO:0010627 "X-linked lymphoproliferative syndrome" 1 11 0 0 0 1 http://identifiers.org/hgnc/25613 "CWF19L1" 0 0 0 0 0 0 MONDO:0004210 "colonic L-cell glucagon-like peptide producing tumor" 1 3 0 0 0 1 MONDO:0008125 "nonsyndromic congenital nail disorder 5" 0 4 0 0 0 0 @@ -8200,13 +8215,13 @@ MONDO:0010377 "myopia 13, X-linked" 0 3 0 0 0 0 GO:0019815 "B cell receptor complex" 1 0 0 0 0 0 MONDO:0008696 "acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome" 1 5 0 0 0 0 UBERON:0006756 "median lingual swelling" 0 0 0 0 0 0 -MONDO:0011195 "Usher syndrome type 1E" 1 7 0 0 0 0 +MONDO:0011195 "Usher syndrome type 1E" 1 6 0 0 0 0 MONDO:0042726 "macrogyria, pseudobulbar palsy and intellectual disability" 0 3 0 0 0 0 GO:0140013 "meiotic nuclear division" 1 0 0 0 0 1 GO:0051588 "regulation of neurotransmitter transport" 1 0 0 0 0 1 MONDO:0022605 "obsolete brachymetapody anodontia hypotrichosis albinoidism" 0 0 0 0 0 0 UBERON:0011203 "urachus mesenchyme" 0 0 0 0 0 1 -MONDO:0013081 "lymphoproliferative syndrome 1" 1 8 0 0 0 1 +MONDO:0013081 "lymphoproliferative syndrome 1" 1 7 0 0 0 1 MONDO:0032573 "bone marrow failure syndrome 5" 0 1 0 0 0 0 MONDO:0019122 "idiopathic acute eosinophilic pneumonia" 1 11 0 0 0 0 http://identifiers.org/hgnc/7154 "MME" 0 0 0 0 0 0 @@ -8216,12 +8231,12 @@ MONDO:0011368 "papillary thyroid Microcarcinoma" 1 6 0 0 0 0 GO:1903580 "positive regulation of ATP metabolic process" 1 0 0 0 0 1 MONDO:0010035 "Smith-Lemli-Opitz syndrome" 1 11 0 0 0 0 MONDO:0007226 "brachydactyly-nystagmus-cerebellar ataxia syndrome" 1 8 0 0 0 0 -MONDO:0005379 "neurotic disorder" 1 10 0 0 0 0 +MONDO:0005379 "neurotic disorder" 1 8 0 0 0 0 MONDO:0015736 "intermediate nemaline myopathy" 1 7 0 0 0 0 -MONDO:0005989 "toxoplasmosis" 1 11 0 0 0 1 +MONDO:0005989 "toxoplasmosis" 1 10 0 0 0 1 HsapDv:0000105 "11-year-old human stage" 1 0 0 0 0 0 MONDO:0017280 "demodicidosis" 1 4 0 0 0 1 -MONDO:0002135 "optic nerve disorder" 1 7 0 0 0 1 +MONDO:0002135 "optic nerve disorder" 1 8 0 0 0 1 MONDO:0000024 "obsolete exostoses, multiple" 0 0 0 0 0 0 CL:0002251 "epithelial cell of alimentary canal" 1 0 0 0 0 1 MONDO:0007091 "amelia and terminal transverse hemimelia" 0 3 0 0 0 0 @@ -8233,7 +8248,7 @@ MONDO:0013650 "hypotrichosis 10" 1 4 0 0 0 0 MONDO:0032632 "mitochondrial complex 1 deficiency, nuclear type 28" 0 1 0 0 0 1 UBERON:0004189 "glomerular endothelium" 0 0 0 0 0 1 MONDO:0032631 "mitochondrial complex 1 deficiency, nuclear type 27" 0 1 0 0 0 1 -MONDO:0010736 "split hand-foot malformation 2" 1 7 0 0 0 0 +MONDO:0010736 "split hand-foot malformation 2" 1 6 0 0 0 0 HP:0002248 "Hematemesis" 1 3 0 0 0 0 UBERON:0009887 "interlobar vein" 0 0 0 0 0 1 ENVO:01000023 "marine pelagic biome" 1 0 0 0 0 0 @@ -8241,7 +8256,7 @@ MONDO:0010773 "myopathy and diabetes mellitus" 0 6 0 0 0 0 MONDO:0012250 "Charcot-Marie-Tooth disease type 4H" 1 8 0 0 0 1 MONDO:0017153 "obsolete pulmonary arterial hypertension associated with HIV infection" 1 6 0 0 0 0 MONDO:0018519 "obsolete squamous cell carcinoma of the anal canal" 0 0 0 0 0 0 -MONDO:0003699 "phobic disorder" 1 9 0 0 0 0 +MONDO:0003699 "phobic disorder" 1 7 0 0 0 0 NCBITaxon:439488 "ssRNA viruses" 0 1 0 0 0 0 UBERON:0001917 "endothelium of artery" 0 0 0 0 0 1 MONDO:0011227 "short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome" 0 6 0 0 0 0 @@ -8298,22 +8313,22 @@ MONDO:0024892 "soft tissue amyloid neoplasm" 1 5 0 0 0 1 HP:0004307 "Abnormal anatomic location of the heart" 1 1 0 0 0 0 MONDO:0019932 "isolated partial vaginal agenesis" 1 3 0 0 0 0 UBERON:0015871 "facial lymph node" 0 0 0 0 0 1 -MONDO:0000991 "obsolete left bundle branch block" 1 6 0 0 0 0 -MONDO:0021100 "breast neoplasm" 1 7 0 0 0 1 +MONDO:0000991 "obsolete left bundle branch block" 1 5 0 0 0 0 +MONDO:0021100 "breast neoplasm" 1 8 0 0 0 1 NCBITaxon:1980491 "Sin Nombre orthohantavirus" 0 1 0 0 0 0 MONDO:0003063 "obsolete hydranencephaly" 0 0 0 0 0 0 MONDO:0007864 "angioosteohypertrophic syndrome" 1 14 0 0 0 0 MONDO:0017956 "obsolete mixed autoinflammatory and autoimmune syndrome" 0 2 0 0 0 0 http://identifiers.org/hgnc/29 "ABCA1" 0 0 0 0 0 0 MONDO:0010728 "SCARF syndrome" 1 7 0 0 0 0 -MONDO:0012813 "retinitis pigmentosa 29" 1 7 0 0 0 0 +MONDO:0012813 "retinitis pigmentosa 29" 1 6 0 0 0 0 MONDO:0018879 "lichen planopilaris" 1 6 0 0 0 0 MONDO:0009297 "familial renal glucosuria" 1 12 0 0 0 0 MONDO:0018895 "Plummer-Vinson syndrome" 1 9 0 0 0 0 CL:0000017 "spermatocyte" 1 6 0 0 0 1 MONDO:0016582 "congenital mitral malformation" 0 2 0 0 0 0 MONDO:0018581 "progressive encephalomyelitis with rigidity and myoclonus" 0 5 0 0 0 0 -MONDO:0014323 "retinitis pigmentosa 68" 1 4 0 0 0 1 +MONDO:0014323 "retinitis pigmentosa 68" 1 3 0 0 0 1 NCBITaxon:181088 "Haemaphysalis flava" 0 1 0 0 0 0 MONDO:0005047 "infertility disorder" 1 4 0 0 0 0 CL:0002191 "granulocytopoietic cell" 1 1 0 0 0 1 @@ -8338,12 +8353,12 @@ MONDO:0000215 "obsolete epilepsy, familial focal, with variable foci" 0 0 0 0 0 http://identifiers.org/hgnc/17168 "RAB3GAP2" 0 0 0 0 0 0 MONDO:0013928 "dystonia 23" 1 5 0 0 0 1 GO:0071742 "IgE immunoglobulin complex" 1 0 0 0 0 0 -MONDO:0001040 "nasopharyngitis" 1 9 0 0 0 1 -MONDO:0018876 "mantle cell lymphoma" 1 12 0 0 0 0 -MONDO:0008244 "piebaldism" 1 11 0 0 0 0 +MONDO:0001040 "nasopharyngitis" 1 7 0 0 0 1 +MONDO:0018876 "mantle cell lymphoma" 1 11 0 0 0 0 +MONDO:0008244 "piebaldism" 1 10 0 0 0 0 MONDO:0016063 "Cowden disease" 0 17 0 0 0 0 MONDO:0018494 "microcephaly-short stature-intellectual disability-facial dysmorphism syndrome" 1 3 0 0 0 0 -MONDO:0007254 "breast cancer" 1 10 0 0 0 1 +MONDO:0007254 "breast cancer" 1 9 0 0 0 1 MONDO:0021296 "carcinoma in situ of renal pelvis" 1 4 0 0 0 1 MONDO:0007654 "genu valgum, st. Helena familial" 0 4 0 0 0 0 MONDO:0019789 "cytophagic histiocytic panniculitis" 1 4 0 0 0 0 @@ -8377,7 +8392,7 @@ http://identifiers.org/hgnc/1541 "CBL" 0 0 0 0 0 0 MONDO:0008996 "COACH syndrome 1" 1 8 0 0 0 1 GO:1900130 "regulation of lipid binding" 1 0 0 0 0 1 MONDO:0021902 "aortopulmonary window" 1 5 0 0 0 0 -MONDO:0001982 "Niemann-Pick disease" 1 12 0 0 0 0 +MONDO:0001982 "Niemann-Pick disease" 1 9 0 0 0 0 MONDO:0007303 "cervical rib disease" 1 8 0 0 0 0 http://identifiers.org/hgnc/12015 "TPO" 0 0 0 0 0 0 MONDO:0015115 "obsolete rare genetic metabolic liver disease" 0 2 0 0 0 0 @@ -8394,7 +8409,7 @@ UBERON:0004948 "submucosa of left main bronchus" 0 0 0 0 0 1 MONDO:0002085 "benign shuddering attacks" 0 5 0 0 0 0 MONDO:0002577 "extrahepatic bile duct rhabdomyosarcoma" 1 3 0 0 0 1 GO:0017157 "regulation of exocytosis" 1 0 0 0 0 1 -MONDO:0002959 "radiculopathy" 1 6 0 0 0 0 +MONDO:0002959 "radiculopathy" 1 5 0 0 0 0 UBERON:0005352 "spermatic cord" 0 0 0 0 0 0 http://identifiers.org/hgnc/8729 "PCNA" 0 0 0 0 0 0 MONDO:0014051 "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2" 1 4 0 0 0 1 @@ -8409,13 +8424,13 @@ GO:0002292 "T cell differentiation involved in immune response" 1 0 0 0 0 1 MONDO:0002398 "mucinous adenofibroma" 1 4 0 0 0 1 MONDO:0014476 "episodic ataxia type 8" 0 5 0 0 0 0 MONDO:0021497 "benign neoplasm of cerebrum" 1 3 0 0 0 1 -MONDO:0006950 "retinal vasculitis" 1 8 0 0 0 1 -MONDO:0002715 "uterine cancer" 1 8 0 0 0 1 +MONDO:0006950 "retinal vasculitis" 1 7 0 0 0 1 +MONDO:0002715 "uterine cancer" 1 7 0 0 0 1 HP:0012373 "Abnormal eye physiology" 1 1 0 0 0 0 MONDO:0044903 "myelofibrosis" 1 1 0 0 0 0 MONDO:0013456 "constitutional megaloblastic anemia with severe neurologic disease" 0 6 0 0 0 0 MONDO:0007124 "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome" 1 9 0 0 0 0 -MONDO:0002036 "penile disorder" 1 10 0 0 0 1 +MONDO:0002036 "penile disorder" 1 8 0 0 0 1 MONDO:0060713 "deafness, congenital heart defects, and posterior embryotoxon" 0 2 0 0 0 0 MONDO:0000194 "obsolete Otofaciocervical syndrome" 0 0 0 0 0 0 HP:0000096 "Glomerular sclerosis" 1 3 0 0 0 0 @@ -8443,9 +8458,10 @@ MONDO:0001806 "vaginal squamous tumor" 1 3 0 0 0 1 MONDO:0019650 "idiopathic steroid-sensitive nephrotic syndrome with minimal change" 0 3 0 0 0 0 http://identifiers.org/hgnc/7715 "NDUFS8" 0 0 0 0 0 0 http://identifiers.org/hgnc/2577 "CYBA" 0 0 0 0 0 0 +MONDO:0020062 "obsolete chromosome X structural anomaly" 0 2 0 0 0 0 CHR:9606-chr2q35 "2q35 (Human)" 0 0 0 0 0 0 MONDO:0018106 "hereditary xanthinuria" 1 13 0 0 0 1 -MONDO:0015834 "didelphys uterus" 0 5 0 0 0 0 +MONDO:0015834 "didelphys uterus" 0 4 0 0 0 0 http://identifiers.org/hgnc/14357 "MMP21" 0 0 0 0 0 0 NCBITaxon:37989 "Xylariales" 0 1 0 0 0 0 http://identifiers.org/hgnc/28163 "CCDC28B" 0 0 0 0 0 0 @@ -8468,12 +8484,12 @@ MONDO:0044887 "central nervous system non-hodgkin lymphoma" 1 3 0 0 0 1 GO:0040019 "positive regulation of embryonic development" 1 0 0 0 0 1 MONDO:0022831 "congenital heart disease ptosis hypodontia craniostosis" 0 1 0 0 0 0 MONDO:0030937 "mitochondrial complex 2 deficiency, nuclear type 3" 0 1 0 0 0 0 -MONDO:0008009 "monilethrix" 1 9 0 0 0 0 +MONDO:0008009 "monilethrix" 1 10 0 0 0 0 http://identifiers.org/hgnc/7671 "NCOA4" 0 0 0 0 0 0 http://identifiers.org/hgnc/6610 "LIM2" 0 0 0 0 0 0 MONDO:0008865 "Bietti crystalline corneoretinal dystrophy" 1 8 0 0 0 0 PATO:0015021 "combustibility" 1 0 0 0 0 0 -MONDO:0017124 "noma" 1 11 0 0 0 0 +MONDO:0017124 "noma" 1 10 0 0 0 0 MONDO:0000494 "renal fibrosis" 1 4 0 0 0 0 MONDO:0033541 "immunodeficiency 69" 0 1 0 0 0 0 MONDO:0012262 "fibrosis of extraocular muscles, congenital, 3c" 0 4 0 0 0 0 @@ -8523,14 +8539,14 @@ MFOMD:0000143 "major depressive episode"@en 1 0 0 0 0 0 UBERON:0034987 "lumbar nerve plexus" 0 0 0 0 0 0 ENVO:2000045 "hydrocarbon-based environmental material" 0 0 0 0 0 1 MONDO:0100297 "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1" 0 2 0 0 0 0 -MONDO:0001167 "spastic diplegia" 1 9 0 0 0 0 +MONDO:0001167 "spastic diplegia" 1 8 0 0 0 0 MONDO:0003324 "obsolete stromal predominant kidney Wilms' tumor" 0 0 0 0 0 0 MONDO:0007373 "corneal degeneration, ribbonlike, with deafness" 0 3 0 0 0 0 UBERON:0004666 "interventricular septum membranous part" 0 0 0 0 0 1 MONDO:0022587 "bone dysplasia corpus callosum agenesis" 0 1 0 0 0 0 MONDO:0015221 "non-syndromic respiratory or mediastinal malformation" 1 1 0 0 0 1 GO:0016791 "phosphatase activity" 1 0 0 0 0 0 -MONDO:0004658 "breast carcinoma in situ" 1 7 0 0 0 1 +MONDO:0004658 "breast carcinoma in situ" 1 5 0 0 0 1 MONDO:0010201 "Winchester syndrome" 0 5 0 0 0 0 http://identifiers.org/hgnc/19263 "LMAN2L" 0 0 0 0 0 0 GO:0003872 "6-phosphofructokinase activity" 1 0 0 0 0 0 @@ -8555,7 +8571,7 @@ UBERON:0001324 "common fibular nerve" 0 0 0 0 0 0 HP:0002087 "Abnormality of the upper respiratory tract" 1 1 0 0 0 0 GO:1904951 "positive regulation of establishment of protein localization" 1 0 0 0 0 1 MONDO:0100194 "pregnancy associated osteoporosis" 1 0 0 0 0 1 -MONDO:0012126 "familial avascular necrosis of femoral head" 1 8 0 0 0 0 +MONDO:0012126 "familial avascular necrosis of femoral head" 1 10 0 0 0 0 UBERON:0001161 "body of stomach" 0 0 0 0 0 0 MONDO:0003745 "choroid spindle cell melanoma" 1 3 0 0 0 1 UBERON:0006692 "vertebral canal" 0 0 0 0 0 1 @@ -8567,10 +8583,10 @@ MONDO:0030701 "autoimmune cardiomyopathy" 1 1 0 0 0 1 MONDO:0005229 "bacterial infectious disease with sepsis" 1 8 0 0 0 1 http://identifiers.org/hgnc/379 "AKAP9" 0 0 0 0 0 0 MONDO:0006269 "obsolete liver inflammatory myofibroblastic tumor" 0 0 0 0 0 0 -MONDO:0005052 "irritable bowel syndrome" 1 9 0 0 0 0 +MONDO:0005052 "irritable bowel syndrome" 1 8 0 0 0 0 MONDO:0019651 "idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation" 0 3 0 0 0 0 http://identifiers.org/hgnc/2578 "CYBB" 0 0 0 0 0 0 -MONDO:0004885 "choroidal sclerosis" 1 8 0 0 0 1 +MONDO:0004885 "choroidal sclerosis" 1 6 0 0 0 1 MONDO:0040566 "inherited glutathione metabolism disease" 1 2 0 0 0 1 MONDO:0030872 "frontotemporal dementia and/or amyotrophic lateral sclerosis 8" 0 1 0 0 0 0 http://identifiers.org/hgnc/15517 "XYLT2" 0 0 0 0 0 0 @@ -8596,7 +8612,7 @@ MONDO:0008273 "actinic prurigo" 0 5 0 0 0 0 HP:0000022 "Abnormality of male internal genitalia" 1 1 0 0 0 0 CHEBI:33637 "ortho-fused compound" 1 0 0 0 0 0 MONDO:0014129 "autosomal recessive limb-girdle muscular dystrophy type 2R" 1 5 0 0 0 1 -MONDO:0003709 "agoraphobia" 1 7 0 0 0 0 +MONDO:0003709 "agoraphobia" 1 6 0 0 0 0 NCBITaxon:2683629 "Opalozoa" 0 1 0 0 0 0 MONDO:0009121 "von Voss-Cherstvoy syndrome" 1 7 0 0 0 0 MONDO:0017806 "15q overgrowth syndrome" 1 4 0 0 0 0 @@ -8606,7 +8622,7 @@ HP:0012828 "Severe" 1 2 0 0 0 0 CHR:9606-chr8q21.11 "8q21.11 (Human)" 0 0 0 0 0 0 MONDO:0007640 "Sorsby fundus dystrophy" 1 8 0 0 0 0 http://identifiers.org/hgnc/7961 "NR0B2" 0 0 0 0 0 0 -MONDO:0017544 "zygodactyly type 3" 0 6 0 0 0 0 +MONDO:0017544 "zygodactyly type 3" 0 2 0 0 0 0 MONDO:0018234 "dysostosis" 1 7 0 0 0 1 SO:0000159 "deletion" 1 0 0 0 0 0 MONDO:0008077 "obsolete neurofibromatosis, type 1" 0 0 0 0 0 0 @@ -8658,11 +8674,11 @@ HP:0000830 "Anterior hypopituitarism" 1 1 0 0 0 0 HP:0025337 "Red eye" 1 0 0 0 0 0 MONDO:0043106 "ichthyosis linearis circumflexa" 0 2 0 0 0 0 MONDO:0019028 "amoebiasis due to Entamoeba histolytica" 1 13 0 0 0 0 -MONDO:0018666 "hepatoblastoma" 1 12 0 0 0 0 +MONDO:0018666 "hepatoblastoma" 1 11 0 0 0 0 CL:0002480 "nasal mucosa goblet cell" 1 1 0 0 0 1 HP:0011974 "Myelofibrosis" 1 2 0 0 0 0 UBERON:0018257 "submucosa of digestive tract" 0 0 0 0 0 1 -MONDO:0020102 "hereditary stomatocytosis" 0 5 0 0 0 0 +MONDO:0020102 "hereditary stomatocytosis" 0 4 0 0 0 0 GO:0019210 "kinase inhibitor activity" 1 0 0 0 0 1 GO:0061564 "axon development" 1 0 0 0 0 0 HP:0001231 "Abnormal fingernail morphology" 1 1 0 0 0 0 @@ -8687,7 +8703,7 @@ MONDO:0020179 "palpebral nevus" 1 4 0 0 0 1 MONDO:0017829 "autosomal dominant proximal renal tubular acidosis" 1 3 0 0 0 1 NCBITaxon:1643688 "Leptospirales" 0 2 0 0 0 0 MONDO:0024715 "benign synovial neoplasm" 1 3 0 0 0 1 -MONDO:0017543 "zygodactyly type 2" 0 6 0 0 0 0 +MONDO:0017543 "zygodactyly type 2" 0 2 0 0 0 0 MONDO:0045017 "cholesterol biosynthetic process disease" 1 2 0 0 0 1 MONDO:0030070 "heterotaxy, visceral, 9, autosomal, with male infertility" 0 1 0 0 0 0 MONDO:0016586 "systemic mastocytosis" 1 9 0 0 0 0 @@ -8713,7 +8729,7 @@ MONDO:0017062 "spina bifida aperta" 0 13 0 0 0 0 MONDO:0012632 "obsolete Alzheimer disease 15" 0 0 0 0 0 0 ENVO:03000033 "marine sediment"@en 1 0 0 0 0 1 HP:0010442 "Polydactyly" 1 4 0 0 0 0 -MONDO:0019355 "adult-onset Still disease" 1 14 0 0 0 0 +MONDO:0019355 "adult-onset Still disease" 1 13 0 0 0 0 MONDO:0006779 "heart aneurysm" 1 9 0 0 0 0 MONDO:0020695 "hypotonic cerebral palsy" 1 2 0 0 0 0 http://identifiers.org/hgnc/6469 "KYNU" 0 0 0 0 0 0 @@ -8721,7 +8737,7 @@ MONDO:0003359 "myxoid leiomyosarcoma" 1 5 0 0 0 0 FOODON:00001002 "food product"@en 1 0 0 0 0 0 MONDO:0020339 "X-linked complex spastic paraplegia" 0 2 0 0 0 0 UBERON:0005333 "mammary bud" 0 0 0 0 0 1 -MONDO:0004574 "pyridoxine deficiency anemia" 1 8 0 0 0 0 +MONDO:0004574 "pyridoxine deficiency anemia" 1 7 0 0 0 0 GO:0023057 "negative regulation of signaling" 1 0 0 0 0 1 MONDO:0016507 "obsolete rare surgically correctable form of primary aldosteronism" 1 2 0 0 0 0 MONDO:0013596 "obsolete nonsyndromic congenital nail disorder 10" 0 1 0 0 0 0 @@ -8734,7 +8750,7 @@ ENVO:09200002 "environmental system process quality" 1 0 0 0 0 1 MONDO:0020494 "oculootodental syndrome" 1 4 0 0 0 0 MONDO:0022397 "retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene" 0 1 0 0 0 0 CHR:9606-chr19q13.1 "19q13.1 (Human)" 0 0 0 0 0 0 -MONDO:0012695 "Meckel syndrome, type 5" 1 6 0 0 0 1 +MONDO:0012695 "Meckel syndrome, type 5" 1 5 0 0 0 1 MONDO:0012349 "spondylocostal dysostosis 3, autosomal recessive" 1 4 0 0 0 1 HP:0002354 "Memory impairment" 1 6 0 0 0 0 CHEBI:29412 "oxonium" 0 0 0 0 0 0 @@ -8764,6 +8780,7 @@ MONDO:0005282 "cutaneous lupus erythematosus" 1 7 0 0 0 0 http://identifiers.org/hgnc/5967 "IL11RA" 0 0 0 0 0 0 GO:0010676 "positive regulation of cellular carbohydrate metabolic process" 1 0 0 0 0 1 MONDO:0006905 "pigmented spindle cell nevus" 1 4 0 0 0 0 +MONDO:0006588 "obsolete nonepidermolytic palmoplantar keratoderma" 0 0 0 0 0 0 GO:0032411 "positive regulation of transporter activity" 1 0 0 0 0 1 MONDO:0033554 "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia" 0 1 0 0 0 0 MONDO:0016493 "variant of Guillain-Barre syndrome" 0 3 0 0 0 0 @@ -8773,7 +8790,7 @@ CL:0000439 "prolactin secreting cell" 1 0 0 0 0 1 http://identifiers.org/hgnc/6696 "LRP4" 0 0 0 0 0 0 MONDO:0015182 "congenital enteropathy involving intestinal mucosa development" 0 1 0 0 0 0 http://identifiers.org/hgnc/6697 "LRP5" 0 0 0 0 0 0 -MONDO:0013441 "asphyxiating thoracic dystrophy 4" 1 5 0 0 0 0 +MONDO:0013441 "asphyxiating thoracic dystrophy 4" 1 4 0 0 0 0 GO:1904675 "regulation of somatic stem cell division" 1 0 0 0 0 1 MONDO:0003504 "anal canal neuroendocrine neoplasm" 1 3 0 0 0 1 MONDO:0004196 "rectal sarcomatoid carcinoma" 1 3 0 0 0 1 @@ -8802,7 +8819,7 @@ MONDO:0009698 "Unverricht-Lundborg syndrome" 1 11 0 0 0 0 MONDO:0002243 "hemorrhagic disease" 1 5 0 0 0 0 MONDO:0009082 "high myopia-sensorineural deafness syndrome" 1 7 0 0 0 0 MONDO:0013418 "aortic aneurysm, familial thoracic 7" 0 3 0 0 0 1 -MONDO:0014054 "lymphoproliferative syndrome 2" 1 5 0 0 0 1 +MONDO:0014054 "lymphoproliferative syndrome 2" 1 4 0 0 0 1 MONDO:0033542 "immunodeficiency 70" 0 1 0 0 0 0 MONDO:0005499 "brain glioma" 1 7 0 0 0 1 CL:1000716 "kidney outer medulla collecting duct principal cell" 0 1 0 0 0 1 @@ -8829,13 +8846,14 @@ MONDO:0014266 "age related macular degeneration 15" 1 3 0 0 0 1 GO:0031946 "regulation of glucocorticoid biosynthetic process" 1 0 0 0 0 1 MONDO:0013878 "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1" 1 4 0 0 0 1 MONDO:0010258 "MEHMO syndrome" 1 10 0 0 0 0 -MONDO:0018755 "scorpion envenomation" 1 4 0 0 0 0 +MONDO:0018755 "scorpion envenomation" 1 3 0 0 0 0 UBERON:0001491 "wrist joint" 0 0 0 0 0 1 GO:0006558 "L-phenylalanine metabolic process" 1 0 0 0 0 0 MONDO:0006784 "hemorrhagic disease of newborn" 1 7 0 0 0 0 -MONDO:0005495 "adrenal gland disorder" 1 9 0 0 0 1 +MONDO:0005495 "adrenal gland disorder" 1 8 0 0 0 1 SO:0001637 "rRNA_gene" 1 0 0 0 0 0 MONDO:0100330 "disease arising from reactivation of latent virus" 1 0 0 0 0 1 +http://identifiers.org/hgnc/27232 "CFAP418" 0 0 0 0 0 0 MONDO:0021636 "astrocytic tumor" 1 9 0 0 0 0 MONDO:0015937 "obsolete rare inflammatory eye disease" 0 2 0 0 0 0 MONDO:0007497 "ear antitragus, tag at base of" 0 1 0 0 0 0 @@ -8844,7 +8862,7 @@ MONDO:0018310 "Langerhans cell histiocytosis" 1 33 0 0 0 0 GO:0045934 "negative regulation of nucleobase-containing compound metabolic process" 1 0 0 0 0 1 NCBITaxon:9903 "Bos" 0 1 0 0 0 0 MONDO:0005327 "hip fracture" 1 4 0 0 0 0 -MONDO:0007030 "autosomal dominant Aarskog syndrome" 0 6 0 0 0 0 +MONDO:0007030 "autosomal dominant Aarskog syndrome" 0 5 0 0 0 0 UBERON:0009578 "myelencephalon sulcus limitans" 0 0 0 0 0 1 UBERON:0006558 "lymphatic part of lymphoid system" 0 0 0 0 0 0 UBERON:0015014 "calcaneum endochondral element" 0 0 0 0 0 1 @@ -8893,12 +8911,12 @@ MONDO:0023235 "giant congenital nevus" 1 4 0 0 0 0 GO:0046467 "membrane lipid biosynthetic process" 1 0 0 0 0 0 MONDO:0006321 "non-functioning adrenal cortex adenoma" 1 3 0 0 0 1 GO:0004566 "beta-glucuronidase activity" 1 0 0 0 0 0 -MONDO:0017835 "lymphocytic hypereosinophilic syndrome" 0 3 0 0 0 0 +MONDO:0017835 "lymphocytic hypereosinophilic syndrome" 0 2 0 0 0 0 MONDO:0011927 "tufted angioma" 1 11 0 0 0 0 UBERON:0004887 "left lung hilus" 0 0 0 0 0 1 MONDO:0019557 "chilblain lupus" 1 8 0 0 0 0 GO:0002686 "negative regulation of leukocyte migration" 1 0 0 0 0 1 -MONDO:0004631 "tongue cancer" 1 20 0 0 0 1 +MONDO:0004631 "tongue cancer" 1 14 0 0 0 1 MONDO:0011860 "leprosy, susceptibility to, 2" 0 3 0 0 0 0 MONDO:0009322 "obsolete halo nevi" 0 1 0 0 0 0 http://identifiers.org/hgnc/23147 "UNC13D" 0 0 0 0 0 0 @@ -8909,10 +8927,10 @@ UBERON:0002257 "ventral horn of spinal cord" 0 0 0 0 0 0 MONDO:0054763 "neurodegeneration with brain iron accumulation 7" 0 2 0 0 0 0 MONDO:0019003 "multiple endocrine neoplasia type 2" 1 14 0 0 0 0 MONDO:0000606 "obsolete gluten allergy" 1 1 0 0 0 0 -MONDO:0020356 "coloboma of iris" 1 8 0 0 0 0 +MONDO:0020356 "coloboma of iris" 1 7 0 0 0 0 MONDO:0000486 "craniofacial dystonia" 1 3 0 0 0 0 MONDO:0003440 "obsolete bladder flat intraepithelial lesion" 0 0 0 0 0 0 -MONDO:0013906 "amelogenesis imperfecta hypomaturation type 2A4" 1 5 0 0 0 1 +MONDO:0013906 "amelogenesis imperfecta hypomaturation type 2A4" 1 4 0 0 0 1 MONDO:0013879 "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2" 0 3 0 0 0 1 MONDO:0008581 "malposition of teeth with or without hypodontia/oligodontia" 0 1 0 0 0 0 NCBITaxon:35082 "Cryptosporidiidae" 0 1 0 0 0 0 @@ -8924,7 +8942,7 @@ UBERON:0004086 "brain ventricle" 0 0 0 0 0 0 MONDO:0043364 "eosinophil peroxidase deficiency" 1 5 0 0 0 0 MONDO:8000000 "infectious discitis" 1 0 0 0 0 1 HP:0002023 "Anal atresia" 1 7 0 0 0 0 -MONDO:0004456 "cocaine abuse" 1 5 0 0 0 1 +MONDO:0004456 "cocaine abuse" 1 4 0 0 0 1 CHR:9606-chr19p13.1 "19p13.1 (Human)" 0 0 0 0 0 0 NBO:0000306 "memory storage behavior" 1 0 0 0 0 0 MONDO:0017850 "sirenomelia" 1 8 0 0 0 0 @@ -8943,7 +8961,7 @@ MONDO:0005594 "severe cutaneous adverse reaction" 1 4 0 0 0 0 MONDO:0016762 "microcornea-corectopia-macular hypoplasia syndrome" 1 5 0 0 0 0 MONDO:0030423 "congenital disorder of glycosylation, type 2v" 0 1 0 0 0 0 MONDO:0013642 "holoprosencephaly 11" 1 4 0 0 0 1 -MONDO:0005920 "Plasmodium falciparum malaria" 1 10 0 0 0 1 +MONDO:0005920 "Plasmodium falciparum malaria" 1 8 0 0 0 1 MPATH:607 "healing and repair structure" 1 0 0 0 0 0 http://identifiers.org/hgnc/10922 "SLC16A1" 0 0 0 0 0 0 http://identifiers.org/hgnc/2309 "CPLX1" 0 0 0 0 0 0 @@ -8955,7 +8973,7 @@ MONDO:0000362 "obsolete Sensenbrenner syndrome" 0 0 0 0 0 0 MONDO:0017475 "macrodactyly of toes" 0 5 0 0 0 0 GO:0046877 "regulation of saliva secretion" 1 0 0 0 0 1 HP:0003621 "Juvenile onset" 1 1 0 0 0 0 -MONDO:0005794 "Herpesviridae infectious disease" 1 3 0 0 0 1 +MONDO:0005794 "Herpesviridae infectious disease" 1 4 0 0 0 1 UBERON:0001174 "common bile duct" 0 0 0 0 0 0 MONDO:0011641 "baculum, congenital absence of" 0 1 0 0 0 0 CL:0000101 "sensory neuron" 1 4 0 0 0 1 @@ -8975,7 +8993,7 @@ http://identifiers.org/hgnc/3581 "BPTF" 0 0 0 0 0 0 MONDO:0032851 "intellectual developmental disorder with impaired language and dysmorphic facies" 0 1 0 0 0 0 GO:0050994 "regulation of lipid catabolic process" 1 0 0 0 0 1 MONDO:0012108 "spondyloepimetaphyseal dysplasia, matrilin-3 type" 1 7 0 0 0 0 -MONDO:0024239 "congenital anomaly of cardiovascular system" 1 4 0 0 0 1 +MONDO:0024239 "congenital anomaly of cardiovascular system" 1 5 0 0 0 1 MONDO:0017774 "hypobetalipoproteinemia" 1 7 0 0 0 0 MONDO:0044873 "childhood myelodysplastic syndrome" 1 1 0 0 0 0 MONDO:0005134 "experimental autoimmune encephalomyelitis" 1 3 0 0 0 0 @@ -8987,13 +9005,13 @@ HP:0032158 "Unusual infection by anatomical site" 1 0 0 0 0 0 MONDO:0008158 "dacryocystitis-osteopoikilosis syndrome" 1 6 0 0 0 0 MONDO:0007616 "fibula, recurrent dislocation of head of" 0 3 0 0 0 0 CHEBI:15365 "acetylsalicylic acid" 1 0 0 0 0 0 -MONDO:0006580 "miliaria" 1 8 0 0 0 0 +MONDO:0006580 "miliaria" 1 7 0 0 0 0 http://identifiers.org/hgnc/11740 "TF" 0 0 0 0 0 0 UBERON:0001326 "levator ani muscle" 0 0 0 0 0 0 MONDO:0054729 "spermatogenic failure 25" 0 1 0 0 0 0 UBERON:0035159 "entire surface of organism" 0 0 0 0 0 1 MONDO:0054725 "spermatogenic failure 21" 0 3 0 0 0 0 -MONDO:0013123 "atrial septal defect 6" 1 6 0 0 0 1 +MONDO:0013123 "atrial septal defect 6" 1 5 0 0 0 1 http://identifiers.org/hgnc/18183 "GIPC3" 0 0 0 0 0 0 CHEBI:26948 "vitamin B1" 1 0 0 0 0 0 UBERON:0004141 "heart tube" 0 0 0 0 0 0 @@ -9027,7 +9045,7 @@ GO:0045653 "negative regulation of megakaryocyte differentiation" 1 0 0 0 0 1 NCBITaxon:53466 "Mesocestoididae" 0 1 0 0 0 0 MONDO:0009128 "dwarfism, intellectual disability, and eye abnormality" 0 4 0 0 0 0 GO:0006082 "organic acid metabolic process" 1 0 0 0 0 0 -MONDO:0024182 "dry beriberi" 0 2 0 0 0 1 +MONDO:0024182 "dry beriberi" 0 1 0 0 0 1 MONDO:0010947 "Budd-Chiari syndrome" 1 9 0 0 0 0 HP:0000098 "Tall stature" 1 2 0 0 0 0 MONDO:0018331 "obsolete rare genetic dystonia" 0 0 0 0 0 0 @@ -9047,7 +9065,7 @@ MONDO:0019281 "isolated genetic hair shaft abnormality" 0 1 0 0 0 1 MONDO:0054813 "Ehlers-Danlos syndrome, classic-like, 2" 0 3 0 0 0 0 CHR:9606-chr4q2 "4q2 (Human)" 0 0 0 0 0 0 http://identifiers.org/hgnc/25985 "PIGG" 0 0 0 0 0 0 -MONDO:0005569 "obsolete cartilage disease" 1 8 0 0 0 0 +MONDO:0005569 "obsolete cartilage disease" 1 6 0 0 0 0 http://identifiers.org/hgnc/24678 "FTO" 0 0 0 0 0 0 MONDO:0020241 "obsolete unclassified familial retinal dystrophy" 0 2 0 0 0 0 MONDO:0014647 "developmental and epileptic encephalopathy, 50" 0 5 0 0 0 0 @@ -9066,7 +9084,7 @@ MONDO:0019652 "familial idiopathic steroid-resistant nephrotic syndrome with dif MONDO:0017369 "obsolete autoinflammatory syndrome with immune deficiency" 0 2 0 0 0 0 MONDO:0002333 "splenic abscess" 1 7 0 0 0 1 MONDO:0024919 "dog disease" 1 2 0 0 0 0 -MONDO:0001295 "idiopathic peripheral autonomic neuropathy" 0 7 0 0 0 0 +MONDO:0001295 "idiopathic peripheral autonomic neuropathy" 0 6 0 0 0 0 CL:0002557 "fibroblast of pulmonary artery" 1 0 0 0 0 1 MONDO:0011505 "familial hypobetalipoproteinemia 2" 1 4 0 0 0 1 UBERON:0036253 "orifice of skull" 0 0 0 0 0 1 @@ -9091,7 +9109,7 @@ MONDO:0016951 "partial trisomy/tetrasomy of the short arm of chromosome 18" 0 1 MONDO:0006380 "pleural sarcomatoid mesothelioma" 1 3 0 0 0 1 GO:0032222 "regulation of synaptic transmission, cholinergic" 1 0 0 0 0 1 HP:0000964 "Eczema" 1 4 0 0 0 0 -MONDO:0017167 "malignant epithelial tumor of salivary glands" 0 6 0 0 0 0 +MONDO:0017167 "malignant epithelial tumor of salivary glands" 0 5 0 0 0 0 GO:2000677 "regulation of transcription regulatory region DNA binding" 1 0 0 0 0 1 GO:0050910 "detection of mechanical stimulus involved in sensory perception of sound" 1 0 0 0 0 1 MONDO:0010204 "lysosomal acid lipase deficiency" 1 10 0 0 0 0 @@ -9122,8 +9140,8 @@ GO:0001964 "startle response" 1 0 0 0 0 0 GO:2000224 "regulation of testosterone biosynthetic process" 1 0 0 0 0 1 MONDO:0011578 "familial papillary thyroid carcinoma with renal papillary neoplasia" 1 7 0 0 0 0 GO:0045168 "cell-cell signaling involved in cell fate commitment" 1 0 0 0 0 1 -MONDO:0015687 "chronic eosinophilic leukemia" 0 7 0 0 0 0 -MONDO:0001468 "synovial plica syndrome" 0 6 0 0 0 0 +MONDO:0015687 "chronic eosinophilic leukemia" 0 6 0 0 0 0 +MONDO:0001468 "synovial plica syndrome" 0 5 0 0 0 0 GO:0044272 "sulfur compound biosynthetic process" 1 0 0 0 0 0 UBERON:0008998 "vasculature of brain" 0 0 0 0 0 0 MONDO:0000426 "autosomal dominant disease" 1 4 0 0 0 1 @@ -9146,10 +9164,10 @@ MONDO:0007438 "dentin dysplasia-sclerotic bones syndrome" 1 6 0 0 0 0 MONDO:0015866 "obsolete malignant tumor of fallopian tubes" 0 0 0 0 0 0 MONDO:0022735 "choroid plexus cyst" 0 3 0 0 0 0 MONDO:0017994 "severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency" 0 3 0 0 0 1 -MONDO:0006026 "urinary bladder disorder" 1 9 0 0 0 1 +MONDO:0006026 "urinary bladder disorder" 1 8 0 0 0 1 MONDO:0011139 "preaxial hallucal polydactyly" 0 4 0 0 0 0 MONDO:0029144 "extraoral halitosis due to methanethiol oxidase deficiency" 0 1 0 0 0 0 -MONDO:0016834 "16p11.2p12.2 microduplication syndrome" 1 5 0 0 0 1 +MONDO:0016834 "16p11.2p12.2 microduplication syndrome" 1 4 0 0 0 1 UBERON:0002324 "muscle of back" 0 0 0 0 0 1 GO:0061041 "regulation of wound healing" 1 0 0 0 0 1 CL:0002577 "placental epithelial cell" 1 0 0 0 0 1 @@ -9193,7 +9211,7 @@ MONDO:0015590 "classic paraneoplastic limbic encephalitis" 1 2 0 0 0 0 MONDO:0016094 "vaginal germ cell malignant tumor" 1 3 0 0 0 1 GO:0060050 "positive regulation of protein glycosylation" 1 0 0 0 0 1 HsapDv:0000142 "48-year-old human stage" 1 0 0 0 0 0 -MONDO:0044013 "puerperal disorder" 1 3 0 0 0 0 +MONDO:0044013 "puerperal disorder" 1 6 0 0 0 0 MONDO:0005405 "childhood onset asthma" 1 3 0 0 0 1 GO:0010639 "negative regulation of organelle organization" 1 0 0 0 0 1 MONDO:0023227 "gestational diabetes insipidus" 1 3 0 0 0 0 @@ -9221,7 +9239,7 @@ MONDO:0011253 "craniomicromelic syndrome" 1 7 0 0 0 0 MONDO:0010540 "bullous dystrophy, macular type" 1 6 0 0 0 0 MONDO:0019734 "juvenile polymyositis" 1 7 0 0 0 0 MONDO:0014626 "spinocerebellar ataxia type 41" 1 6 0 0 0 0 -MONDO:0002912 "brainstem cancer" 1 10 0 0 0 1 +MONDO:0002912 "brainstem cancer" 1 9 0 0 0 1 GO:0031224 "intrinsic component of membrane" 1 0 0 0 0 0 UBERON:0000021 "cutaneous appendage" 0 0 0 0 0 0 MONDO:0010324 "intellectual disability, X-linked 81" 0 3 0 0 0 0 @@ -9232,13 +9250,13 @@ UBERON:0004417 "proximal epiphysis of phalanx of manual digit 1" 0 0 0 0 0 1 HP:0002900 "Hypokalemia" 1 4 0 0 0 0 GO:0045702 "positive regulation of spermatid nuclear differentiation" 1 0 0 0 0 1 MONDO:0006401 "salivary gland adenosquamous carcinoma" 1 3 0 0 0 1 -MONDO:0005155 "cirrhosis of liver" 1 9 0 0 0 0 +MONDO:0005155 "cirrhosis of liver" 1 8 0 0 0 0 MONDO:0018828 "pseudo-TORCH syndrome 2" 0 3 0 0 0 0 CHR:9606-chr4p16.3 "4p16.3 (Human)" 0 0 0 0 0 0 HP:0003198 "Myopathy" 1 3 0 0 0 0 -MONDO:0012915 "chromosome 1q21.1 duplication syndrome" 1 7 0 0 0 1 +MONDO:0012915 "chromosome 1q21.1 duplication syndrome" 1 6 0 0 0 1 MONDO:0004740 "obsolete hyperlysinemia" 0 0 0 0 0 0 -MONDO:0015661 "dextrocardia" 1 10 0 0 0 0 +MONDO:0015661 "dextrocardia" 1 9 0 0 0 0 UBERON:0005243 "interventricular septum endocardium" 0 0 0 0 0 1 MONDO:0033493 "fibromatosis, gingival, 5" 0 3 0 0 0 0 MONDO:0019083 "Leigh syndrome with cardiomyopathy" 0 4 0 0 0 1 @@ -9253,10 +9271,10 @@ NCBITaxon:1809 "Mycobacterium ulcerans" 0 2 0 0 0 0 MONDO:0010824 "disorder of sex development-intellectual disability syndrome" 1 6 0 0 0 0 UBERON:0001343 "seminiferous tubule of testis" 0 0 0 0 0 0 MONDO:0004264 "acute gonococcal endometritis" 0 5 0 0 0 0 -MONDO:0016761 "spondyloepiphyseal dysplasia" 1 8 0 0 0 0 +MONDO:0016761 "spondyloepiphyseal dysplasia" 1 7 0 0 0 0 CL:0002159 "general ecto-epithelial cell" 1 1 0 0 0 0 MONDO:0020780 "cone-rod dystrophy and hearing loss 2" 0 1 0 0 0 0 -MONDO:0009831 "malignant pancreatic neoplasm" 1 13 0 0 0 1 +MONDO:0009831 "malignant pancreatic neoplasm" 1 12 0 0 0 1 MONDO:0016134 "obsolete rare hereditary systemic disease with peripheral neuropathy" 0 2 0 0 0 0 NCBITaxon:2611341 "Metamonada" 0 2 0 0 0 0 MONDO:0054727 "spermatogenic failure 23" 0 3 0 0 0 0 @@ -9275,14 +9293,14 @@ MONDO:0013139 "neutropenia, severe congenital, 2, autosomal dominant" 1 4 0 0 0 MONDO:0006309 "mucinous gastric adenocarcinoma" 1 5 0 0 0 1 MONDO:0001828 "acquired color blindness" 1 5 0 0 0 1 MONDO:0020444 "subaortic course of innominate vein" 1 3 0 0 0 0 -MONDO:0005803 "hyperinsulinemic hypoglycemia" 1 14 0 0 0 0 +MONDO:0005803 "hyperinsulinemic hypoglycemia" 1 13 0 0 0 0 MONDO:0007534 "Beckwith-Wiedemann syndrome" 1 11 0 0 0 0 MONDO:0024868 "metastatic carcinoma in the adrenal medulla" 1 2 0 0 0 1 MONDO:0042976 "vitamin B deficiency" 1 4 0 0 0 0 MONDO:0014224 "developmental delay with autism spectrum disorder and gait instability" 1 3 0 0 0 0 MONDO:0006738 "eccrine acrospiroma" 1 7 0 0 0 0 MONDO:0016254 "obsolete rare variants of adenocarcinoma of the corpus uteri" 0 3 0 0 0 0 -MONDO:0002266 "malt worker's lung" 1 5 0 0 0 1 +MONDO:0002266 "malt worker's lung" 1 4 0 0 0 1 MONDO:0020199 "obsolete conjunctival vascular anomaly" 0 1 0 0 0 0 CHEBI:35868 "hydroxy monocarboxylic acid" 1 0 0 0 0 0 MONDO:0017873 "obsolete Ebola hemorrhagic fever" 0 0 0 0 0 0 @@ -9296,7 +9314,7 @@ CL:0008001 "hematopoietic precursor cell" 1 0 0 0 0 0 MONDO:0003101 "obsolete intraneural perineurioma" 0 0 0 0 0 0 NCBITaxon:2697049 "Severe acute respiratory syndrome coronavirus 2" 0 1 0 0 0 0 MONDO:0003943 "central nervous system hibernoma" 1 3 0 0 0 1 -MONDO:0001935 "neurogenic arthropathy" 1 7 0 0 0 0 +MONDO:0001935 "neurogenic arthropathy" 1 6 0 0 0 0 GO:0048856 "anatomical structure development" 1 0 0 0 0 0 MONDO:0018855 "keratosis pilaris atrophicans" 1 7 0 0 0 0 MONDO:0022756 "chromosome 1q deletion" 1 4 0 0 0 1 @@ -9344,7 +9362,7 @@ GO:0006935 "chemotaxis" 1 0 0 0 0 0 MONDO:0008155 "osteomesopyknosis" 1 7 0 0 0 0 MONDO:0033196 "obsolete skin/hair/eye pigmentation, variation in" 0 1 0 0 0 0 GO:0033500 "carbohydrate homeostasis" 1 0 0 0 0 0 -MONDO:0005834 "lymphogranuloma venereum" 1 9 0 0 0 1 +MONDO:0005834 "lymphogranuloma venereum" 1 8 0 0 0 1 MONDO:0019648 "achondrogenesis" 1 13 0 0 0 0 MONDO:0015935 "extragonadal germinoma" 0 2 0 0 0 1 MONDO:0017273 "obsolete autosomal ichthyosis syndrome with fatal disease course" 0 2 0 0 0 0 @@ -9352,7 +9370,7 @@ MONDO:0000217 "obsolete Frontometaphyseal dysplasia" 0 0 0 0 0 0 HP:0000622 "Blurred vision" 1 3 0 0 0 0 MONDO:0008227 "peripheral dysostosis" 0 6 0 0 0 0 MONDO:0005339 "androgenetic alopecia" 0 8 0 0 0 1 -MONDO:0009282 "multiple acyl-CoA dehydrogenase deficiency" 1 9 0 0 0 0 +MONDO:0009282 "multiple acyl-CoA dehydrogenase deficiency" 1 8 0 0 0 0 GO:0060560 "developmental growth involved in morphogenesis" 1 0 0 0 0 1 MONDO:0004686 "lattice corneal dystrophy" 0 6 0 0 0 0 MONDO:0004375 "end stage renal failure" 1 4 0 0 0 0 @@ -9360,14 +9378,14 @@ MONDO:0020806 "sinoatrial block" 1 1 0 0 0 0 HP:0012093 "Abnormality of endocrine pancreas physiology" 1 1 0 0 0 0 MONDO:0040503 "blepharocheilodontic syndrome 2" 1 3 0 0 0 1 HP:0002577 "Abnormal stomach morphology" 1 1 0 0 0 0 -MONDO:0005739 "echinostomiasis" 1 7 0 0 0 1 +MONDO:0005739 "echinostomiasis" 1 6 0 0 0 1 MONDO:0042912 "Schlegelberger-Grote syndrome" 0 3 0 0 0 0 MONDO:0043349 "intravascular papillary endothelial hyperplasia" 1 4 0 0 0 0 http://identifiers.org/hgnc/27288 "ACSF3" 0 0 0 0 0 0 GO:0042181 "ketone biosynthetic process" 1 0 0 0 0 0 MONDO:0045035 "opportunistic infectious" 1 0 0 0 0 0 MONDO:0015269 "symmetrical thalamic calcifications" 1 5 0 0 0 0 -MONDO:0001657 "brain cancer" 1 14 0 0 0 1 +MONDO:0001657 "brain cancer" 1 12 0 0 0 1 PATO:0002092 "anaplastic" 1 0 0 0 0 0 GO:0032387 "negative regulation of intracellular transport" 1 0 0 0 0 1 MONDO:0011795 "anonychia-microcephaly syndrome" 1 5 0 0 0 0 @@ -9399,7 +9417,7 @@ MONDO:0004106 "testicular yolk sac tumor, macrocystic pattern" 1 3 0 0 0 0 MONDO:0005490 "large artery stroke" 1 1 0 0 0 0 MONDO:0005088 "obsolete rheumatoid arthritis" 0 0 0 0 0 0 GO:0033119 "negative regulation of RNA splicing" 1 0 0 0 0 1 -MONDO:0005028 "esophageal adenocarcinoma" 1 11 0 0 0 1 +MONDO:0005028 "esophageal adenocarcinoma" 1 10 0 0 0 1 MONDO:0018641 "obsolete paroxysmal nocturnal hemoglobinuria" 0 0 0 0 0 0 MONDO:0015635 "porokeratotic eccrine ostial and dermal duct nevus" 1 5 0 0 0 0 MONDO:0010571 "otopalatodigital syndrome type 2" 1 9 0 0 0 0 @@ -9417,12 +9435,12 @@ HP:0002846 "Abnormal B cell morphology" 1 1 0 0 0 0 MONDO:0016650 "paternal uniparental disomy of chromosome 1" 1 3 0 0 0 0 MONDO:0010129 "thymic-renal-anal-lung dysplasia" 1 7 0 0 0 0 UBERON:0010025 "dorsal part of pharyngeal pouch 3" 0 0 0 0 0 0 -MONDO:0600030 "B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" 1 5 0 0 0 0 +MONDO:0600030 "B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" 1 4 0 0 0 0 MONDO:0003384 "uterine ligament clear cell adenocarcinoma" 1 3 0 0 0 1 -MONDO:0007417 "Darier disease" 1 12 0 0 0 0 -MONDO:0001767 "stenosis of lacrimal punctum" 0 5 0 0 0 0 +MONDO:0007417 "Darier disease" 1 11 0 0 0 0 +MONDO:0001767 "stenosis of lacrimal punctum" 0 4 0 0 0 0 MONDO:0018243 "intellectual disability-hyperkinetic movement-truncal ataxia syndrome" 0 4 0 0 0 0 -MONDO:0005516 "osteochondrodysplasia" 1 10 0 0 0 0 +MONDO:0005516 "osteochondrodysplasia" 1 9 0 0 0 0 MONDO:0021380 "neoplasm of myocardium" 1 4 0 0 0 1 MONDO:0018254 "spondyloepimetaphyseal dysplasia, Isidor type" 0 2 0 0 0 0 NCBITaxon:2212966 "Echinococcus granulosus group" 0 1 0 0 0 0 @@ -9437,7 +9455,7 @@ MONDO:0020770 "spinocerebellar ataxia, autosomal recessive, with axonal neuropat http://identifiers.org/hgnc/11336 "SSX2" 0 0 0 0 0 0 UBERON:0010547 "pedal digit 1 metatarsal pre-cartilage condensation" 0 0 0 0 0 1 MONDO:0015567 "cataract-glaucoma syndrome" 1 5 0 0 0 0 -MONDO:0000819 "anencephaly" 1 6 0 0 0 0 +MONDO:0000819 "anencephaly" 1 5 0 0 0 0 MONDO:0016157 "qualitative or quantitative defects of fukutin" 0 1 0 0 0 1 MONDO:0005611 "bladder transitional cell carcinoma" 1 6 0 0 0 1 UBERON:0010023 "dorsal part of pharyngeal pouch 2" 0 0 0 0 0 0 @@ -9447,26 +9465,26 @@ UBERON:0005153 "epithelial bud" 0 0 0 0 0 0 GO:0050870 "positive regulation of T cell activation" 1 0 0 0 0 1 FOODON:03411047 "grain or seed-producing plant"@en 0 0 0 0 0 0 MONDO:0008641 "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" 1 10 0 0 0 0 -MONDO:0013182 "chromosome 17p13.3 duplication syndrome" 1 8 0 0 0 1 +MONDO:0013182 "chromosome 17p13.3 duplication syndrome" 1 7 0 0 0 1 UBERON:0003937 "reproductive gland" 0 0 0 0 0 1 MONDO:0004087 "basaloid large cell lung carcinoma" 1 4 0 0 0 1 CHR:9606-chr16p13.1 "16p13.1 (Human)" 0 0 0 0 0 0 UBERON:0019294 "commissure of telencephalon" 0 0 0 0 0 1 http://identifiers.org/hgnc/9454 "PROM1" 0 0 0 0 0 0 -MONDO:0004664 "helminthiasis" 1 13 0 0 0 0 +MONDO:0004664 "helminthiasis" 1 11 0 0 0 0 MONDO:0007200 "blepharonasofacial malformation syndrome" 1 7 0 0 0 0 MONDO:0003113 "extragonadal germ cell cancer" 1 5 0 0 0 1 -MONDO:0018695 "avian influenza" 1 9 0 0 0 1 +MONDO:0018695 "avian influenza" 1 8 0 0 0 1 MONDO:0002156 "fallopian tube disorder" 1 5 0 0 0 1 MONDO:0030375 "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2" 0 1 0 0 0 0 http://identifiers.org/hgnc/9220 "POU4F3" 0 0 0 0 0 0 GO:0042640 "anagen" 1 0 0 0 0 0 -MONDO:0015540 "hemophagocytic syndrome" 1 17 0 0 0 0 +MONDO:0015540 "hemophagocytic syndrome" 1 16 0 0 0 0 UBERON:0011375 "skin of prepuce of clitoris" 0 0 0 0 0 1 UBERON:0010185 "rete ovarii" 0 0 0 0 0 0 -MONDO:0015664 "idiopathic pulmonary artery dilatation" 1 3 0 0 0 0 +MONDO:0015664 "idiopathic pulmonary artery dilatation" 1 2 0 0 0 0 MONDO:0007726 "hip dysplasia, Beukes type" 1 7 0 0 0 0 -MONDO:0014560 "amelogenesis imperfecta type 1F" 1 5 0 0 0 1 +MONDO:0014560 "amelogenesis imperfecta type 1F" 1 4 0 0 0 1 MONDO:0005911 "pharyngoconjunctival fever" 1 7 0 0 0 0 MONDO:0018365 "malignant non-epithelial tumor of ovary" 0 2 0 0 0 0 MONDO:0009254 "fucosidosis" 1 10 0 0 0 0 @@ -9515,15 +9533,15 @@ CL:0000829 "basophilic myeloblast" 1 0 0 0 0 1 MONDO:0007189 "obsolete B-cell growth factor" 0 1 0 0 0 0 UBERON:0001435 "carpal bone" 0 0 0 0 0 1 MONDO:0009479 "Johanson-Blizzard syndrome" 1 13 0 0 0 0 -MONDO:0012748 "primary ciliary dyskinesia 7" 1 5 0 0 0 1 +MONDO:0012748 "primary ciliary dyskinesia 7" 1 4 0 0 0 1 MONDO:0000296 "obsolete angiostrongyliasis" 0 0 0 0 0 0 UBERON:0018150 "skin of lower lip" 0 0 0 0 0 1 MONDO:0010271 "X-linked myotubular myopathy-abnormal genitalia syndrome" 1 4 0 0 0 0 MONDO:0014043 "microcephalic primordial dwarfism due to ZNF335 deficiency" 1 7 0 0 0 0 -MONDO:0009691 "mycosis fungoides" 1 15 0 0 0 0 +MONDO:0009691 "mycosis fungoides" 1 14 0 0 0 0 MONDO:0007843 "Kabuki syndrome 1" 0 4 0 0 0 0 http://identifiers.org/hgnc/6231 "KCNB1" 0 0 0 0 0 0 -MONDO:0004982 "pancreatitis" 1 7 0 0 0 1 +MONDO:0004982 "pancreatitis" 1 6 0 0 0 1 MONDO:0020676 "disorder of central nervous system or retinal vasculature" 0 0 0 0 0 1 MONDO:0004742 "primary cerebellar degeneration" 1 4 0 0 0 0 MONDO:0018584 "obsolete placental insufficiency" 0 0 0 0 0 0 @@ -9531,7 +9549,7 @@ MONDO:0010329 "intellectual disability, X-linked 77" 0 3 0 0 0 0 CHEBI:83056 "Daphnia magna metabolite" 1 0 0 0 0 0 http://identifiers.org/hgnc/29501 "GPSM2" 0 0 0 0 0 0 MONDO:0015375 "orofaciodigital syndrome" 1 8 0 0 0 0 -MONDO:0019280 "hypertrichosis" 1 11 0 0 0 0 +MONDO:0019280 "hypertrichosis" 1 8 0 0 0 0 CHEBI:36841 "11-hydroxy steroid" 0 0 0 0 0 0 MONDO:0000637 "musculoskeletal system cancer" 1 1 0 0 0 1 MONDO:0000087 "polymicrogyria" 1 7 0 0 0 0 @@ -9558,7 +9576,6 @@ UBERON:0035267 "neck of gallbladder" 0 0 0 0 0 1 http://identifiers.org/hgnc/3146 "ECE1" 0 0 0 0 0 0 http://identifiers.org/hgnc/6224 "KCNA5" 0 0 0 0 0 0 GO:0045596 "negative regulation of cell differentiation" 1 0 0 0 0 1 -MONDO:0016946 "partial trisomy of the short arm of chromosome 9" 1 3 0 0 0 1 CL:0000311 "keratin accumulating cell" 0 0 0 0 0 0 MONDO:0100369 "iatrogenic or non-iatrogenic" 1 0 0 0 0 0 NCBITaxon:2560525 "Human orthorubulavirus 2" 0 1 0 0 0 0 @@ -9567,7 +9584,7 @@ CL:0000805 "immature single positive thymocyte" 1 0 0 0 0 0 http://identifiers.org/hgnc/14262 "AUTS2" 0 0 0 0 0 0 MONDO:0018734 "verrucous hemangioma" 1 7 0 0 0 0 MONDO:0017739 "disorder of lysosomal-related organelles" 0 2 0 0 0 0 -MONDO:0000997 "monocular esotropia" 1 6 0 0 0 0 +MONDO:0000997 "monocular esotropia" 1 5 0 0 0 0 MONDO:0003251 "esophageal granular cell tumor" 1 3 0 0 0 1 MONDO:0044249 "obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1" 0 1 0 0 0 0 MONDO:0011701 "inflammatory bowel disease 4" 1 4 0 0 0 0 @@ -9608,7 +9625,7 @@ http://identifiers.org/hgnc/21862 "DYNC2I1" 0 0 0 0 0 0 UBERON:0003528 "brain gray matter" 0 0 0 0 0 1 http://identifiers.org/hgnc/26988 "METTL23" 0 0 0 0 0 0 MONDO:0013327 "primary hyperoxaluria type 3" 1 9 0 0 0 1 -MONDO:0001475 "neutropenia" 1 9 0 0 0 0 +MONDO:0001475 "neutropenia" 1 8 0 0 0 0 CL:1000274 "trophectodermal cell" 0 0 0 0 0 0 GO:0050877 "nervous system process" 1 0 0 0 0 0 http://identifiers.org/hgnc/1736 "CDC42" 0 0 0 0 0 0 @@ -9618,30 +9635,30 @@ UBERON:0009521 "anal membrane endodermal component" 0 0 0 0 0 1 MONDO:0011269 "psoriasis 2" 1 3 0 0 0 1 CL:0002593 "smooth muscle cell of the internal thoracic artery" 1 0 0 0 0 1 NCBITaxon:41197 "Heteroneura" 0 1 0 0 0 0 -MONDO:0002467 "inner ear disorder" 1 8 0 0 0 1 +MONDO:0002467 "inner ear disorder" 1 5 0 0 0 1 MONDO:0017836 "erythrokeratoderma en cocardes" 1 6 0 0 0 0 -MONDO:0000330 "endemic typhus" 1 7 0 0 0 1 +MONDO:0000330 "endemic typhus" 1 6 0 0 0 1 GO:0008484 "sulfuric ester hydrolase activity" 1 0 0 0 0 0 MONDO:0013285 "immunodeficiency, common variable, 5" 1 3 0 0 0 1 CHEBI:63048 "1,3-thiazolium cation" 1 0 0 0 0 0 GO:0044275 "cellular carbohydrate catabolic process" 1 0 0 0 0 0 MONDO:0003194 "hemangioma of lung" 1 1 0 0 0 1 MONDO:0020527 "ectopic Cushing syndrome" 1 4 0 0 0 0 -MONDO:0000746 "obsolete inguinal hernia" 1 9 0 0 0 0 +MONDO:0000746 "obsolete inguinal hernia" 1 7 0 0 0 0 MONDO:0013283 "immunodeficiency, common variable, 3" 0 3 0 0 0 0 NCBITaxon:33988 "Rickettsieae" 0 3 0 0 0 0 MONDO:0010527 "obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome" 0 1 0 0 0 0 http://identifiers.org/hgnc/9957 "RELN" 0 0 0 0 0 0 UBERON:0004252 "hindlimb stylopod muscle" 0 0 0 0 0 1 GO:0048285 "organelle fission" 1 0 0 0 0 0 -MONDO:0018570 "hypophosphatasia" 1 17 0 0 0 0 +MONDO:0018570 "hypophosphatasia" 1 16 0 0 0 0 GO:0030879 "mammary gland development" 1 0 0 0 0 0 MONDO:0007070 "adiposis dolorosa" 1 13 0 0 0 0 PATO:0000460 "abnormal" 1 0 0 0 0 0 MONDO:0013795 "fibrochondrogenesis 2" 1 3 0 0 0 1 UBERON:0014795 "pelvic appendage muscle" 0 0 0 0 0 1 MONDO:0019970 "Sinding-Larsen-Johansson disease" 1 4 0 0 0 0 -MONDO:0002002 "postsurgical hypothyroidism" 0 5 0 0 0 0 +MONDO:0002002 "postsurgical hypothyroidism" 0 4 0 0 0 0 MONDO:0015553 "dystrophic epidermolysis bullosa, nails only" 1 4 0 0 0 0 UBERON:0006647 "adventitia of ductus deferens" 0 0 0 0 0 1 GO:0036194 "muscle cell projection" 1 0 0 0 0 0 @@ -9654,7 +9671,7 @@ MONDO:0012246 "spinocerebellar ataxia type 26" 1 8 0 0 0 0 MONDO:0010686 "N syndrome" 1 8 0 0 0 0 GO:0002828 "regulation of type 2 immune response" 1 0 0 0 0 1 http://identifiers.org/hgnc/2995 "DPAGT1" 0 0 0 0 0 0 -MONDO:0018661 "Zika virus infectious disease" 1 11 0 0 0 1 +MONDO:0018661 "Zika virus infectious disease" 1 9 0 0 0 1 MONDO:0024534 "Dowling-Degos disease 1" 1 3 0 0 0 1 HP:0002683 "Abnormality of the calvaria" 1 2 0 0 0 0 MONDO:0011163 "malignant hyperthermia, susceptibility to, 5" 1 4 0 0 0 1 @@ -9668,7 +9685,7 @@ MONDO:0018450 "spinal muscular atrophy with respiratory distress type 2" 1 3 0 0 MONDO:0001337 "inflamed seborrheic keratosis" 0 5 0 0 0 0 MONDO:0002686 "obsolete mast-cell sarcoma" 0 0 0 0 0 0 MONDO:0007655 "fissured tongue" 0 10 0 0 0 0 -MONDO:0003937 "spondylitis" 1 7 0 0 0 1 +MONDO:0003937 "spondylitis" 1 6 0 0 0 1 MONDO:0010632 "developmental and epileptic encephalopathy, 1" 1 3 0 0 0 1 HP:0001635 "Congestive heart failure" 1 5 0 0 0 0 http://identifiers.org/hgnc/6637 "LMNB1" 0 0 0 0 0 0 @@ -9724,7 +9741,7 @@ MONDO:0020550 "gestational choriocarcinoma" 1 7 0 0 0 0 MONDO:0044342 "thoracic disc degenerative disorder" 1 3 0 0 0 1 CHR:9606-chr2p12-p11.2 "2p12-p11.2 (Human)" 0 0 0 0 0 0 CHEBI:37175 "organic hydride" 0 0 0 0 0 0 -MONDO:0020326 "lymphomatoid papulosis" 1 13 0 0 0 0 +MONDO:0020326 "lymphomatoid papulosis" 1 11 0 0 0 0 GO:0016010 "dystrophin-associated glycoprotein complex" 1 0 0 0 0 0 MONDO:0020620 "obsolete blood group, ss" 0 1 0 0 0 0 MONDO:0011973 "zinc deficiency, transient neonatal" 0 3 0 0 0 0 @@ -9742,17 +9759,17 @@ ECTO:0000015 "exposure to environmental material" 1 0 0 0 0 0 MONDO:0016031 "facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome" 0 5 0 0 0 0 NCBITaxon:426441 "Amblyomminae" 0 1 0 0 0 0 NCBITaxon:45258 "Rickettsia conorii subsp. israelensis" 0 2 0 0 0 0 -MONDO:0007743 "attention deficit-hyperactivity disorder" 1 2 0 0 0 0 +MONDO:0007743 "attention deficit-hyperactivity disorder" 1 3 0 0 0 0 MONDO:0013645 "autosomal recessive spinocerebellar ataxia 11" 1 5 0 0 0 1 MONDO:0024248 "obsolete pityriasis" 1 3 0 0 0 0 UBERON:0001041 "foregut" 0 0 0 0 0 0 MONDO:0035369 "obsolete MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome" 0 0 0 0 0 0 -MONDO:0018937 "mucopolysaccharidosis type 3" 1 19 0 0 0 0 +MONDO:0018937 "mucopolysaccharidosis type 3" 1 18 0 0 0 0 MONDO:0022977 "diaphragmatic hernia exomphalos corpus callosum agenesis" 0 1 0 0 0 0 CL:1000415 "epithelial cell of gall bladder" 1 1 0 0 0 1 MONDO:0019240 "sterol biosynthesis disorder" 1 2 0 0 0 1 MONDO:0015240 "digitotalar dysmorphism" 1 10 0 0 0 0 -MONDO:0000912 "autosomal recessive nonsyndromic hearing loss 5" 1 5 0 0 0 0 +MONDO:0000912 "autosomal recessive nonsyndromic hearing loss 5" 1 4 0 0 0 0 MONDO:0019395 "Hinman syndrome" 1 6 0 0 0 0 MONDO:0011865 "obsolete COL4A1-related familial vascular leukoencephalopathy" 1 0 0 0 0 0 MONDO:0008825 "arthrogryposis multiplex congenita-whistling face syndrome" 1 7 0 0 0 0 @@ -9765,7 +9782,7 @@ UBERON:8410045 "artery of appendix" 0 0 0 0 0 1 NCBITaxon:562 "Escherichia coli" 0 2 0 0 0 0 PATO:0001673 "cystic" 1 0 0 0 0 0 MONDO:0009344 "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome" 1 6 0 0 0 0 -MONDO:0001319 "bladder lateral wall cancer" 0 6 0 0 0 0 +MONDO:0001319 "bladder lateral wall cancer" 0 5 0 0 0 0 CHEBI:35294 "carbopolycyclic compound" 1 0 0 0 0 0 MONDO:0002505 "childhood astrocytic tumor" 1 3 0 0 0 1 GO:0047453 "ATP-dependent NAD(P)H-hydrate dehydratase activity" 1 0 0 0 0 0 @@ -9786,7 +9803,7 @@ MONDO:0030708 "Trichomonas cervicitis" 1 1 0 0 0 1 UBERON:0015181 "neck of tooth" 0 0 0 0 0 1 CHR:9606-chr17p13 "17p13 (Human)" 0 0 0 0 0 0 MONDO:0018273 "XYLT1-CDG" 0 3 0 0 0 0 -MONDO:0019198 "sympathetic ophthalmia" 1 10 0 0 0 0 +MONDO:0019198 "sympathetic ophthalmia" 1 9 0 0 0 0 CHR:9606-chr9q33.3-q34.11 "9q33.3-q34.11 (Human)" 0 0 0 0 0 0 UBERON:0004859 "eye gland" 0 0 0 0 0 1 MONDO:0003906 "ovarian yolk sac tumor, hepatoid pattern" 1 3 0 0 0 0 @@ -9795,7 +9812,7 @@ ECTO:0000481 "exposure to transition element" 1 0 0 0 0 1 MONDO:0004911 "cardiovascular syphilis" 1 6 0 0 0 0 UBERON:4000167 "caudal fin skeleton" 0 0 0 0 0 1 UBERON:0005622 "right dorsal aorta" 0 0 0 0 0 0 -MONDO:0007369 "hereditary coproporphyria" 1 11 0 0 0 0 +MONDO:0007369 "hereditary coproporphyria" 1 10 0 0 0 0 UBERON:0009749 "limb mesenchyme" 0 0 0 0 0 1 HP:0004348 "Abnormality of bone mineral density" 1 1 0 0 0 0 MONDO:0008080 "neurofibromatosis, type III, mixed central and peripheral" 0 4 0 0 0 0 @@ -9806,7 +9823,7 @@ MONDO:0018446 "autosomal recessive cerebellar ataxia - epilepsy - intellectual d MONDO:0014868 "developmental and epileptic encephalopathy, 38" 1 3 0 0 0 1 MONDO:0002512 "papillary adenocarcinoma" 1 6 0 0 0 1 MONDO:0019688 "sulfation-related bone disorder" 0 2 0 0 0 0 -MONDO:0011680 "autosomal recessive congenital ichthyosis 3" 1 7 0 0 0 1 +MONDO:0011680 "autosomal recessive congenital ichthyosis 3" 1 6 0 0 0 1 MONDO:0007698 "hand-foot-genital syndrome" 1 10 0 0 0 0 UBERON:0004764 "intramembranous bone tissue" 0 0 0 0 0 1 PATO:0002287 "increased elasticity" 1 0 0 0 0 1 @@ -9823,9 +9840,9 @@ HP:0000144 "Decreased fertility" 0 2 0 0 0 0 MONDO:0008417 "sclerocornea, autosomal dominant" 0 3 0 0 0 0 http://identifiers.org/hgnc/9280 "PPOX" 0 0 0 0 0 0 NCBITaxon:46919 "Whitewater Arroyo mammarenavirus" 0 1 0 0 0 0 -MONDO:0002170 "chronic eustachian salpingitis" 1 6 0 0 0 1 +MONDO:0002170 "chronic eustachian salpingitis" 1 4 0 0 0 1 UBERON:0015777 "transitional epithelium of prostatic urethra" 0 0 0 0 0 0 -MONDO:0005824 "Legionnaires' disease" 1 7 0 0 0 0 +MONDO:0005824 "Legionnaires' disease" 1 6 0 0 0 0 MONDO:0005110 "idiopathic cardiomyopathy" 1 2 0 0 0 1 MONDO:0016793 "obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA" 0 2 0 0 0 0 ENVO:00000002 "anthropogenic geographic feature" 1 0 0 0 0 1 @@ -9833,7 +9850,7 @@ MONDO:0006889 "paraphimosis" 1 8 0 0 0 0 UBERON:0009672 "oronasal membrane" 0 0 0 0 0 0 UBERON:0005983 "heart layer" 0 0 0 0 0 1 MONDO:0001960 "obsolete Alpers syndrome" 0 0 0 0 0 0 -MONDO:0018938 "mucopolysaccharidosis type 4" 1 15 0 0 0 0 +MONDO:0018938 "mucopolysaccharidosis type 4" 1 13 0 0 0 0 MONDO:0007865 "knuckle pads" 0 5 0 0 0 0 MONDO:0006687 "burning mouth syndrome" 1 12 0 0 0 0 CHEBI:32504 "phenylalaninate" 1 0 0 0 0 0 @@ -9859,11 +9876,11 @@ MONDO:0011004 "lissencephaly type 3-metacarpal bone dysplasia syndrome" 1 6 0 0 MONDO:0001829 "lumbosacral plexus lesion" 1 4 0 0 0 1 MONDO:0003258 "hobnail hemangioma" 1 4 0 0 0 0 MONDO:0012407 "pyridoxal phosphate-responsive seizures" 1 8 0 0 0 1 -MONDO:0011476 "MHC class I deficiency" 1 8 0 0 0 0 +MONDO:0011476 "MHC class I deficiency" 1 7 0 0 0 0 UBERON:0006723 "cochlear modiolus" 0 0 0 0 0 0 MONDO:0013585 "hydrolethalus syndrome 2" 1 4 0 0 0 1 MONDO:0017299 "acute annular outer retinopathy" 0 1 0 0 0 0 -MONDO:0007002 "trochlear nerve disorder" 1 7 0 0 0 1 +MONDO:0007002 "trochlear nerve disorder" 1 6 0 0 0 1 http://identifiers.org/hgnc/12298 "TRH" 0 0 0 0 0 0 CHEBI:72695 "organic molecule" 1 0 0 0 0 0 http://identifiers.org/hgnc/10387 "RPS14" 0 0 0 0 0 0 @@ -9880,7 +9897,7 @@ MONDO:0014308 "familial temporal lobe epilepsy 6" 1 4 0 0 0 0 CHEBI:26020 "phosphate" 1 0 0 0 0 0 MONDO:0015536 "papular xanthoma" 1 4 0 0 0 0 MONDO:0000213 "autoimmune disease, multisystem, infantile-onset" 0 2 0 0 0 0 -MONDO:0012903 "autosomal recessive nonsyndromic hearing loss 45" 1 3 0 0 0 0 +MONDO:0012903 "autosomal recessive nonsyndromic hearing loss 45" 1 2 0 0 0 0 MONDO:0011434 "psoriasis 5, susceptibility to" 0 2 0 0 0 0 MONDO:0006265 "laryngeal small cell carcinoma" 1 4 0 0 0 1 MONDO:0000745 "cardiac arrest" 1 9 0 0 0 0 @@ -9893,6 +9910,7 @@ MONDO:0010325 "X-linked intellectual disability, Stocco dos Santos type" 0 7 0 0 MONDO:0022178 "chromosome 13q-mosaicism" 0 2 0 0 0 0 MONDO:0008253 "platelet aggregation, spontaneous" 0 3 0 0 0 0 UBERON:0008256 "left clavicle" 0 0 0 0 0 1 +MONDO:8000034 "obsolete disorder" 0 1 0 0 0 0 MONDO:0019599 "primary lipodystrophy" 1 2 0 0 0 0 MONDO:0014372 "cone-rod dystrophy 19" 1 3 0 0 0 1 MONDO:0006813 "intradermal nevus" 1 7 0 0 0 0 @@ -9901,20 +9919,20 @@ MONDO:0019043 "obsolete rare genetic skin disease" 0 1 0 0 0 0 MONDO:0015050 "esophageal duplication cyst" 1 3 0 0 0 0 MONDO:0008665 "ptosis-vocal cord paralysis syndrome" 1 5 0 0 0 0 MONDO:0010142 "hypothyroidism due to TSH receptor mutations" 1 6 0 0 0 0 -MONDO:0014498 "familial cold autoinflammatory syndrome 4" 1 6 0 0 0 1 +MONDO:0014498 "familial cold autoinflammatory syndrome 4" 1 5 0 0 0 1 CHEBI:33256 "primary amide" 1 0 0 0 0 0 http://identifiers.org/hgnc/8548 "P4HB" 0 0 0 0 0 0 GO:0010817 "regulation of hormone levels" 1 0 0 0 0 0 CHR:9606-chr1q21.1 "1q21.1 (Human)" 0 0 0 0 0 0 -MONDO:0015127 "pituitary deficiency" 0 2 0 0 0 0 +MONDO:0015127 "pituitary deficiency" 0 1 0 0 0 0 MONDO:0007337 "cleft palate-lateral synechia syndrome" 1 9 0 0 0 0 -MONDO:0001584 "ocular motility disease" 0 5 0 0 0 0 +MONDO:0001584 "ocular motility disease" 0 6 0 0 0 0 http://identifiers.org/hgnc/2364 "CRLF1" 0 0 0 0 0 0 MONDO:0012820 "colorectal cancer, susceptibility to, 3" 1 1 0 0 0 1 SO:0000656 "stRNA_encoding" 1 0 0 0 0 0 UBERON:0003571 "trachea connective tissue" 0 0 0 0 0 1 GO:1900249 "positive regulation of cytoplasmic translational elongation" 1 0 0 0 0 1 -MONDO:0005822 "latent syphilis" 1 8 0 0 0 0 +MONDO:0005822 "latent syphilis" 1 7 0 0 0 0 http://identifiers.org/hgnc/5467 "IGF2R" 0 0 0 0 0 0 http://identifiers.org/hgnc/3806 "FOXE1" 0 0 0 0 0 0 NCBITaxon:171 "Leptospira" 0 5 0 0 0 0 @@ -9952,7 +9970,7 @@ http://identifiers.org/hgnc/6709 "LTA" 0 0 0 0 0 0 GO:0032259 "methylation" 1 0 0 0 0 0 MONDO:0012263 "autoimmune disease, susceptibility to, 4" 0 1 0 0 0 0 MONDO:0033665 "hearing loss, autosomal dominant 78" 0 1 0 0 0 0 -MONDO:0006945 "renal artery obstruction" 1 5 0 0 0 0 +MONDO:0006945 "renal artery obstruction" 1 4 0 0 0 0 UBERON:0003722 "middle cranial fossa" 0 0 0 0 0 0 HP:0003256 "Abnormality of the coagulation cascade" 1 4 0 0 0 0 HP:0001700 "Myocardial necrosis" 1 2 0 0 0 0 @@ -9987,7 +10005,7 @@ MONDO:0005748 "enzootic pneumonia of calves" 1 3 0 0 0 0 GO:0002228 "natural killer cell mediated immunity" 1 0 0 0 0 0 MONDO:0010680 "X-linked Emery-Dreifuss muscular dystrophy" 1 10 0 0 0 1 MONDO:0014526 "polyglucosan body myopathy type 2" 1 4 0 0 0 1 -MONDO:0005154 "liver disorder" 1 11 0 0 0 1 +MONDO:0005154 "liver disorder" 1 10 0 0 0 1 MONDO:0004234 "chronic lymphoproliferative disorder of NK-cells" 1 6 0 0 0 0 HP:0000818 "Abnormality of the endocrine system" 1 4 0 0 0 0 MONDO:0017191 "sporadic pheochromocytoma" 0 4 0 0 0 0 @@ -10003,7 +10021,7 @@ MONDO:0017694 "glycogen storage disease due to acid maltase deficiency, infantil UBERON:0005460 "left vitelline vein" 0 0 0 0 0 1 http://identifiers.org/hgnc/952 "BARD1" 0 0 0 0 0 0 UBERON:0003984 "uterine tube infundibulum" 0 0 0 0 0 0 -MONDO:0011708 "autosomal dominant nonsyndromic hearing loss 36" 1 5 0 0 0 1 +MONDO:0011708 "autosomal dominant nonsyndromic hearing loss 36" 1 4 0 0 0 1 CHEBI:48359 "protophilic solvent" 1 0 0 0 0 0 MONDO:0044311 "brachycephaly, trichomegaly, and developmental delay" 1 2 0 0 0 0 GO:1905881 "positive regulation of oogenesis" 1 0 0 0 0 1 @@ -10019,7 +10037,7 @@ CP:0000028 "basophilic cytoplasm" 1 0 0 0 0 1 GO:0046320 "regulation of fatty acid oxidation" 1 0 0 0 0 1 MONDO:0010752 "VACTERL association, X-linked, with or without hydrocephalus" 0 5 0 0 0 0 MONDO:0021106 "laminopathy" 1 2 0 0 0 1 -MONDO:0016430 "Balo concentric sclerosis" 1 15 0 0 0 0 +MONDO:0016430 "Balo concentric sclerosis" 1 12 0 0 0 0 NCBITaxon:7776 "Gnathostomata " 0 1 0 0 0 0 NCBITaxon:11308 "Orthomyxoviridae" 0 1 0 0 0 0 NCIT:C17828 "Biological Process" 0 0 0 0 0 0 @@ -10056,7 +10074,7 @@ MONDO:0015355 "distal hereditary motor neuropathy type 7" 1 6 0 0 0 0 MONDO:0015079 "multiple polyglandular tumor" 0 4 0 0 0 0 GO:0061024 "membrane organization" 1 0 0 0 0 0 UBERON:0010091 "future hindbrain meninx" 0 0 0 0 0 1 -MONDO:0012060 "autosomal recessive nonsyndromic hearing loss 35" 1 5 0 0 0 1 +MONDO:0012060 "autosomal recessive nonsyndromic hearing loss 35" 1 4 0 0 0 1 GO:0004177 "aminopeptidase activity" 1 0 0 0 0 0 MONDO:0000693 "bipolar II disorder" 1 3 0 0 0 0 GO:0065008 "regulation of biological quality" 1 0 0 0 0 0 @@ -10069,7 +10087,7 @@ UBERON:0001159 "sigmoid colon" 0 0 0 0 0 0 GO:0050789 "regulation of biological process" 1 0 0 0 0 1 CHEBI:64909 "poison" 1 0 0 0 0 0 UBERON:0005033 "mucosa of gallbladder" 0 0 0 0 0 1 -MONDO:0006537 "conjunctival pigmentation" 1 6 0 0 0 0 +MONDO:0006537 "conjunctival pigmentation" 1 5 0 0 0 0 HP:0025033 "Abnormality of digestive system morphology" 1 0 0 0 0 0 UBERON:0005617 "mesenteric vein" 0 0 0 0 0 1 MONDO:0008926 "COFS syndrome" 1 11 0 0 0 0 @@ -10078,9 +10096,9 @@ MONDO:0000514 "bone squamous cell carcinoma" 1 1 0 0 0 1 NCBITaxon:37162 "Mycobacterium avium complex sp." 0 1 0 0 0 0 UBERON:0001508 "arch of aorta" 0 0 0 0 0 0 CHEBI:60056 "cocaine(1+)" 1 0 0 0 0 0 -MONDO:0006614 "subcorneal pustular dermatosis" 1 8 0 0 0 0 +MONDO:0006614 "subcorneal pustular dermatosis" 1 7 0 0 0 0 GO:1903430 "negative regulation of cell maturation" 1 0 0 0 0 1 -MONDO:0005672 "blastomycosis" 1 13 0 0 0 1 +MONDO:0005672 "blastomycosis" 1 12 0 0 0 1 GO:0043269 "regulation of ion transport" 1 0 0 0 0 1 GO:0010891 "negative regulation of sequestering of triglyceride" 1 0 0 0 0 1 UBERON:0000474 "female reproductive system" 0 0 0 0 0 1 @@ -10094,7 +10112,7 @@ GO:0072527 "pyrimidine-containing compound metabolic process" 1 0 0 0 0 0 http://identifiers.org/hgnc/24123 "B9D1" 0 0 0 0 0 0 CHEBI:52210 "pharmacological role" 1 0 0 0 0 0 MONDO:0005539 "small bowel Crohn disease" 1 1 0 0 0 1 -MONDO:0012268 "AIDS" 1 6 0 0 0 1 +MONDO:0012268 "AIDS" 1 5 0 0 0 1 CL:0002064 "pancreatic acinar cell" 1 3 0 0 0 1 http://identifiers.org/hgnc/3808 "FOXE3" 0 0 0 0 0 0 MONDO:0044748 "anaplasmosis in cattle" 1 1 0 0 0 0 @@ -10112,7 +10130,7 @@ MONDO:0007206 "bone pain, periodic" 0 1 0 0 0 0 HsapDv:0000100 "6-year-old human stage" 1 0 0 0 0 0 MONDO:0016736 "rosette-forming glioneuronal tumor of fourth ventricule" 1 4 0 0 0 0 CHEBI:32876 "tertiary amine" 1 0 0 0 0 0 -MONDO:0013150 "parkinsonism-dystonia, infantile" 1 7 0 0 0 0 +MONDO:0013150 "parkinsonism-dystonia, infantile" 1 8 0 0 0 0 GO:0008283 "cell population proliferation" 1 0 0 0 0 0 UBERON:0007641 "trigeminal nuclear complex" 0 0 0 0 0 0 MONDO:0008705 "lysosomal acid phosphatase deficiency" 0 7 0 0 0 0 @@ -10130,21 +10148,21 @@ MONDO:0013794 "thrombocythemia 3" 1 4 0 0 0 0 HsapDv:0000124 "30-year-old human stage" 1 0 0 0 0 0 CL:0002209 "intermediate epitheliocyte" 1 1 0 0 0 0 CHEBI:35604 "carbon oxoanion" 1 0 0 0 0 0 -MONDO:0004770 "exophthalmos" 1 9 0 0 0 0 +MONDO:0004770 "exophthalmos" 1 8 0 0 0 0 MONDO:0008611 "humerus trochlea aplasia" 1 7 0 0 0 0 MONDO:0008769 "neuronal ceroid lipofuscinosis 2" 1 8 0 0 0 1 MONDO:0003891 "bladder signet ring cell adenocarcinoma" 1 3 0 0 0 1 -MONDO:0001998 "Foster-Kennedy syndrome" 1 7 0 0 0 0 +MONDO:0001998 "Foster-Kennedy syndrome" 1 6 0 0 0 0 http://identifiers.org/hgnc/6585 "LHCGR" 0 0 0 0 0 0 MONDO:0005628 "male breast carcinoma" 1 10 0 0 0 1 GO:0035249 "synaptic transmission, glutamatergic" 1 0 0 0 0 0 MONDO:0008049 "myopathy, distal, infantile-onset" 0 4 0 0 0 0 http://identifiers.org/hgnc/9722 "ALDH18A1" 0 0 0 0 0 0 -MONDO:0001879 "anus cancer" 1 7 0 0 0 1 +MONDO:0001879 "anus cancer" 1 5 0 0 0 1 MONDO:0044877 "paraneoplastic cerebellar degeneration" 1 1 0 0 0 1 UBERON:0019293 "white matter of pontine tegmentum" 0 0 0 0 0 1 MONDO:0016780 "paternal 14q32.2 microdeletion syndrome" 0 3 0 0 0 0 -MONDO:0001594 "Achilles bursitis" 1 4 0 0 0 1 +MONDO:0001594 "Achilles bursitis" 1 3 0 0 0 1 CL:0002656 "glandular cell of endometrium" 1 1 0 0 0 1 http://identifiers.org/hgnc/28033 "CCDC174" 0 0 0 0 0 0 MONDO:0016618 "rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies" 0 2 0 0 0 0 @@ -10164,7 +10182,7 @@ MONDO:0014357 "intellectual disability, autosomal dominant 24" 1 3 0 0 0 1 UBERON:0003366 "epithelium of uterine horn" 0 0 0 0 0 1 MONDO:0044641 "9q33.3q34.11 microdeletion syndrome" 0 1 0 0 0 1 http://identifiers.org/hgnc/11936 "FASLG" 0 0 0 0 0 0 -MONDO:0010031 "Sjogren-Larsson syndrome" 1 11 0 0 0 0 +MONDO:0010031 "Sjogren-Larsson syndrome" 1 10 0 0 0 0 MONDO:0002895 "obsolete dentinogenesis imperfecta" 0 0 0 0 0 0 http://identifiers.org/hgnc/10896 "SKI" 0 0 0 0 0 0 MONDO:0004053 "bartholin gland squamous cell carcinoma" 1 4 0 0 0 1 @@ -10199,9 +10217,9 @@ MONDO:0008797 "anodontia" 1 9 0 0 0 0 GO:0002082 "regulation of oxidative phosphorylation" 1 0 0 0 0 1 UBERON:0002031 "epithelium of bronchus" 0 0 0 0 0 1 UBERON:0037459 "hair of limb" 0 0 0 0 0 1 -MONDO:0000889 "haemophilus meningitis" 1 8 0 0 0 1 +MONDO:0000889 "haemophilus meningitis" 1 7 0 0 0 1 MONDO:0037256 "serous neoplasm" 0 2 0 0 0 0 -MONDO:0014866 "Charcot-Marie-Tooth disease axonal type 2T" 1 5 0 0 0 1 +MONDO:0014866 "Charcot-Marie-Tooth disease axonal type 2T" 1 6 0 0 0 1 MONDO:0017338 "fatal multiple mitochondrial dysfunctions syndrome" 1 9 0 0 0 0 GO:0016705 "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen" 1 0 0 0 0 0 CL:0011108 "colon epithelial cell" 1 0 0 0 0 1 @@ -10233,7 +10251,7 @@ MONDO:0020715 "multiple system atrophy 1, susceptibility to" 0 1 0 0 0 1 HP:0000093 "Proteinuria" 1 3 0 0 0 0 CL:0000163 "endocrine cell" 1 1 0 0 0 1 MONDO:0000040 "obsolete hyperphenylalaninemia, BH4-deficient" 0 0 0 0 0 0 -MONDO:0018523 "pancreatic mucinous cystadenoma" 1 9 0 0 0 1 +MONDO:0018523 "pancreatic mucinous cystadenoma" 1 4 0 0 0 1 MONDO:0017815 "acquired porencephaly" 1 4 0 0 0 1 MONDO:0017472 "patella aplasia/hypoplasia, unilateral" 0 2 0 0 0 0 MONDO:0010734 "spatial visualization, aptitude for" 0 3 0 0 0 0 @@ -10242,10 +10260,10 @@ http://identifiers.org/hgnc/6719 "LTC4S" 0 0 0 0 0 0 GO:0060302 "negative regulation of cytokine activity" 1 0 0 0 0 1 http://identifiers.org/hgnc/20580 "CYP2R1" 0 0 0 0 0 0 GO:0060765 "regulation of androgen receptor signaling pathway" 1 0 0 0 0 1 -MONDO:0008704 "short-limb skeletal dysplasia with severe combined immunodeficiency" 1 7 0 0 0 0 +MONDO:0008704 "short-limb skeletal dysplasia with severe combined immunodeficiency" 1 6 0 0 0 0 UBERON:0001447 "tarsal bone" 0 0 0 0 0 1 CL:0002539 "aortic smooth muscle cell" 1 1 0 0 0 1 -MONDO:0001269 "scleral disorder" 1 8 0 0 0 1 +MONDO:0001269 "scleral disorder" 1 7 0 0 0 1 MONDO:0016200 "qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -" 0 1 0 0 0 0 http://identifiers.org/hgnc/11445 "STXBP2" 0 0 0 0 0 0 MONDO:0005469 "orthostatic hypotension" 1 5 0 0 0 0 @@ -10265,6 +10283,7 @@ CHEBI:68452 "azole" 1 0 0 0 0 0 GO:0003867 "4-aminobutyrate transaminase activity" 1 0 0 0 0 0 UBERON:0006646 "muscle layer of epididymis" 0 0 0 0 0 1 MONDO:0022434 "obsolete amelia cleft lip palate hydrocephalus iris coloboma" 0 0 0 0 0 0 +MONDO:0007532 "obsolete Electroencephalographic peculiarity: occipital slow beta waves" 0 1 0 0 0 0 MONDO:0017869 "chondroectodermal dysplasia with night blindness" 1 2 0 0 0 0 MONDO:0014235 "chromosome 22q13 duplication syndrome" 0 3 0 0 0 1 MONDO:0002757 "acute allergic sanguinous otitis media" 1 4 0 0 0 0 @@ -10295,6 +10314,7 @@ GO:2000738 "positive regulation of stem cell differentiation" 1 0 0 0 0 1 UBERON:0010963 "trunk and cervical myotome group" 0 0 0 0 0 0 MONDO:0044998 "carpal region disorder" 1 2 0 0 0 1 MONDO:0021909 "obsolete aplasia cutis congenita recessive" 0 0 0 0 0 0 +MONDO:0008326 "obsolete pseudocholinesterase, increase in plasma level of" 0 1 0 0 0 0 MONDO:0013904 "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8" 1 4 0 0 0 1 MONDO:0021507 "benign neoplasm of brain stem" 1 3 0 0 0 1 ENVO:01001086 "formation of a solid aerosol in an atmosphere"@en 1 0 0 0 0 1 @@ -10316,7 +10336,7 @@ MONDO:0000254 "cutaneous mycosis" 1 2 0 0 0 1 GO:0044456 "obsolete synapse part" 1 0 0 0 0 0 UBERON:0007625 "pigment epithelium of eye" 0 0 0 0 0 1 NCBITaxon:1502 "Clostridium perfringens" 0 3 0 0 0 0 -MONDO:0002357 "hepatic flexure cancer" 1 5 0 0 0 1 +MONDO:0002357 "hepatic flexure cancer" 1 4 0 0 0 1 MONDO:0500000 "episodic angioedema with eosinophilia" 1 1 0 0 0 0 MONDO:0010024 "Beemer-Langer syndrome" 1 9 0 0 0 0 UBERON:0005729 "pectoral appendage field" 0 0 0 0 0 1 @@ -10325,12 +10345,12 @@ NCBITaxon:2698737 "Sar" 0 1 0 0 0 0 MONDO:0000977 "chondroid lipoma" 1 5 0 0 0 0 UBERON:0006592 "transformed vein" 0 0 0 0 0 1 MONDO:0026720 "mitochondrial complex 1 deficiency, nuclear type 12" 0 1 0 0 0 1 -MONDO:0005819 "laryngeal tuberculosis" 1 11 0 0 0 1 +MONDO:0005819 "laryngeal tuberculosis" 1 10 0 0 0 1 MONDO:0004808 "benign mammary dysplasia" 0 4 0 0 0 0 MONDO:0003892 "acinar lung adenocarcinoma" 1 3 0 0 0 0 GO:0033238 "regulation of cellular amine metabolic process" 1 0 0 0 0 1 -MONDO:0007665 "glaucoma 1, open angle, E" 1 8 0 0 0 0 -MONDO:0020573 "inherited disease susceptibility" 1 1 0 0 0 1 +MONDO:0007665 "glaucoma 1, open angle, E" 1 7 0 0 0 0 +MONDO:0020573 "inherited disease susceptibility" 1 3 0 0 0 1 MONDO:0008651 "vertebral hypoplasia with lumbar kyphosis" 0 3 0 0 0 0 NCBITaxon:71240 "eudicotyledons" 0 3 0 0 0 0 MONDO:0020215 "syndromic corneal dystrophy" 1 2 0 0 0 1 @@ -10341,7 +10361,7 @@ MONDO:0100403 "acute myeloid leukemia, loss of chromosome 17p" 1 1 0 0 0 0 MONDO:0015350 "17q11.2 microduplication syndrome" 1 6 0 0 0 1 MONDO:0019248 "mucolipidosis" 1 6 0 0 0 0 http://identifiers.org/hgnc/16068 "PCNT" 0 0 0 0 0 0 -MONDO:0002433 "malignant cranial nerve neoplasm" 1 7 0 0 0 1 +MONDO:0002433 "malignant cranial nerve neoplasm" 1 6 0 0 0 1 PO:0025338 "collective plant organ structure development stage" 1 1 0 0 0 0 MONDO:0018785 "obsolete nodular fasciitis" 1 0 0 0 0 0 UBERON:0036301 "vasculature of spleen" 0 0 0 0 0 1 @@ -10369,7 +10389,7 @@ MONDO:0022843 "congenital mumps" 0 1 0 0 0 0 NCBITaxon:5498 "Cladosporium" 0 1 0 0 0 0 CL:1000488 "cholangiocyte" 1 1 0 0 0 1 MONDO:0017433 "obsolete dysostosis with combined reduction defects of upper and lower limbs" 0 1 0 0 0 0 -MONDO:0007886 "uterine corpus leiomyoma" 1 18 0 0 0 1 +MONDO:0007886 "uterine corpus leiomyoma" 1 16 0 0 0 1 CL:0009032 "B cell of appendix" 1 0 0 0 0 1 GO:1904689 "negative regulation of cytoplasmic translational initiation" 1 0 0 0 0 1 UBERON:0001417 "skin of neck" 0 0 0 0 0 1 @@ -10388,7 +10408,7 @@ MONDO:0007664 "glaucoma 1, open angle, A" 1 5 0 0 0 1 MONDO:0019105 "renal nutcracker syndrome" 1 6 0 0 0 0 MONDO:0016550 "congenital primary megaureter, obstructed form" 0 2 0 0 0 0 MONDO:0002646 "viral laryngitis" 1 5 0 0 0 1 -MONDO:0006797 "hypertensive retinopathy" 1 9 0 0 0 1 +MONDO:0006797 "hypertensive retinopathy" 1 8 0 0 0 1 http://identifiers.org/hgnc/11764 "TG" 0 0 0 0 0 0 MONDO:0008318 "Proteus syndrome" 1 11 0 0 0 0 MONDO:0018683 "acquired ichthyosis" 1 6 0 0 0 1 @@ -10420,19 +10440,20 @@ UBERON:0010531 "metanephros induced blastemal cells" 0 0 0 0 0 0 MONDO:0021209 "heart neoplasm" 1 3 0 0 0 1 http://identifiers.org/hgnc/23987 "NDUFA12" 0 0 0 0 0 0 UBERON:0010235 "uvular muscle" 0 0 0 0 0 1 -MONDO:0006591 "panniculitis" 1 12 0 0 0 1 +MONDO:0006591 "panniculitis" 1 11 0 0 0 1 MONDO:0014859 "developmental and epileptic encephalopathy, 37" 1 3 0 0 0 1 UBERON:0010375 "pancreas dorsal primordium" 0 0 0 0 0 1 -MONDO:0012090 "autosomal dominant nonsyndromic hearing loss 47" 1 6 0 0 0 0 +MONDO:0014826 "obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency" 0 2 0 0 0 0 +MONDO:0012090 "autosomal dominant nonsyndromic hearing loss 47" 1 5 0 0 0 0 MONDO:0006031 "chronic rhinosinusitis" 1 7 0 0 0 1 UBERON:0000026 "appendage" 0 0 0 0 0 0 MONDO:0007163 "episodic ataxia type 2" 1 8 0 0 0 1 GO:0140014 "mitotic nuclear division" 1 0 0 0 0 1 -MONDO:0005568 "cholesterol embolism" 1 9 0 0 0 0 +MONDO:0005568 "cholesterol embolism" 1 8 0 0 0 0 MONDO:0017282 "alveolar echinococcosis" 1 12 0 0 0 1 MONDO:0010195 "obsolete Weissenbacher-Zweymuller syndrome" 0 0 0 0 0 0 CL:0000355 "multi-potent skeletal muscle stem cell" 1 1 0 0 0 1 -MONDO:0013279 "long QT syndrome 13" 1 6 0 0 0 1 +MONDO:0013279 "long QT syndrome 13" 1 5 0 0 0 1 ENVO:01000314 "high osmolarity environment" 1 0 0 0 0 1 MONDO:0014574 "peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome" 0 4 0 0 0 0 MONDO:0002685 "childhood choroid plexus carcinoma" 1 4 0 0 0 1 @@ -10441,7 +10462,7 @@ GO:0006873 "cellular ion homeostasis" 1 0 0 0 0 0 UBERON:0004827 "thyroid gland medulla" 0 0 0 0 0 1 MONDO:0032619 "mitochondrial complex 1 deficiency, nuclear type 14" 0 1 0 0 0 1 MONDO:0006193 "endometrial hyperplasia without atypia" 1 4 0 0 0 0 -MONDO:0001718 "scleritis" 1 10 0 0 0 0 +MONDO:0001718 "scleritis" 1 8 0 0 0 0 NCBITaxon:644710 "Anisakis simplex complex" 0 1 0 0 0 0 UBERON:0008344 "intestinal villus of ileum" 0 0 0 0 0 1 MONDO:0004728 "diabetic macular edema" 0 4 0 0 0 0 @@ -10488,13 +10509,13 @@ CL:0002265 "type D cell of colon" 1 1 0 0 0 1 MONDO:0032618 "mitochondrial complex 1 deficiency, nuclear type 13" 0 1 0 0 0 1 MONDO:0015987 "scimitar syndrome" 1 8 0 0 0 0 http://identifiers.org/hgnc/3513 "EXT2" 0 0 0 0 0 0 -MONDO:0002657 "breast disorder" 1 10 0 0 0 1 +MONDO:0002657 "breast disorder" 1 9 0 0 0 1 MONDO:0016039 "infantile digital fibromatosis" 0 9 0 0 0 0 UBERON:0005283 "tela choroidea" 0 0 0 0 0 0 MONDO:0006911 "obsolete placental site trophoblastic tumor" 0 0 0 0 0 0 GO:0140657 "ATP-dependent activity" 1 0 0 0 0 1 MONDO:0019778 "Smith-Fineman-Myers syndrome" 1 6 0 0 0 0 -MONDO:0009182 "junctional epidermolysis bullosa Herlitz type" 1 6 0 0 0 0 +MONDO:0009182 "junctional epidermolysis bullosa Herlitz type" 1 5 0 0 0 0 http://identifiers.org/hgnc/1552 "CBX2" 0 0 0 0 0 0 GO:0022824 "transmitter-gated ion channel activity" 1 0 0 0 0 0 MONDO:0008022 "muscle cramps, familial" 0 3 0 0 0 0 @@ -10517,7 +10538,7 @@ MONDO:0022862 "cormier rustin munnich syndrome" 0 1 0 0 0 0 FOODON:00001792 "crustacean food product"@en 0 0 0 0 0 1 UBERON:0018413 "facial nerve canal" 0 0 0 0 0 1 MONDO:0004041 "urothelial papilloma" 1 4 0 0 0 0 -MONDO:0018944 "gestational trophoblastic neoplasm" 1 16 0 0 0 1 +MONDO:0018944 "gestational trophoblastic neoplasm" 1 13 0 0 0 1 MONDO:0035370 "ALPI-related inflammatory bowel disease" 1 1 0 0 0 0 UBERON:8410057 "capillary of colon" 0 0 0 0 0 1 MONDO:0033549 "optic atrophy 12" 0 1 0 0 0 0 @@ -10543,7 +10564,7 @@ MONDO:0032616 "mitochondrial complex 1 deficiency, nuclear type 10" 0 1 0 0 0 1 http://identifiers.org/hgnc/19414 "DPY19L2" 0 0 0 0 0 0 MONDO:0018244 "obesity due to SIM1 deficiency" 0 2 0 0 0 1 GO:0010604 "positive regulation of macromolecule metabolic process" 1 0 0 0 0 1 -MONDO:0003630 "pancreatic serous cystadenocarcinoma" 1 9 0 0 0 1 +MONDO:0003630 "pancreatic serous cystadenocarcinoma" 1 4 0 0 0 1 UBERON:0003552 "telencephalon pia mater" 0 0 0 0 0 1 GO:0060083 "smooth muscle contraction involved in micturition" 1 0 0 0 0 1 MONDO:0007309 "Charcot-Marie-Tooth disease type 1A" 1 7 0 0 0 0 @@ -10597,6 +10618,7 @@ MONDO:0025512 "type II hypersensitivity reaction disease" 1 2 0 0 0 1 CHEBI:33287 "fertilizer" 1 0 0 0 0 0 MONDO:0030058 "hearing loss, autosomal dominant 77" 0 1 0 0 0 0 MONDO:0012560 "obsolete invasive pneumococcal disease, recurrent isolated, 1" 0 1 0 0 0 0 +MONDO:0007692 "obsolete hairy ears" 0 3 0 0 0 0 GO:0051590 "positive regulation of neurotransmitter transport" 1 0 0 0 0 1 MONDO:0007307 "Charcot-Marie-Tooth disease type 1B" 1 8 0 0 0 1 UBERON:0004894 "alveolar wall" 0 0 0 0 0 1 @@ -10606,18 +10628,17 @@ MONDO:0011518 "Wiedemann-Steiner syndrome" 1 5 0 0 0 0 GO:1904803 "regulation of translation involved in cellular response to UV" 1 0 0 0 0 1 NCBITaxon:7586 "Echinodermata" 0 1 0 0 0 0 UBERON:0011850 "acinus of salivary gland" 0 0 0 0 0 1 -MONDO:0007141 "antiviral state repressor, regulator of" 0 1 0 0 0 0 HP:0031263 "Abnormal renal corpuscle morphology" 1 0 0 0 0 0 MONDO:0030976 "oculomotor-abducens synkinesis" 0 1 0 0 0 0 MONDO:0032604 "retinitis pigmentosa 84" 0 1 0 0 0 0 MONDO:0020727 "combined oxidative phosphorylation deficiency 22" 0 3 0 0 0 1 -MONDO:0010788 "Leber hereditary optic neuropathy" 1 11 0 0 0 0 +MONDO:0010788 "Leber hereditary optic neuropathy" 1 10 0 0 0 0 MONDO:0015525 "congenital pseudoarthrosis of the limbs" 0 4 0 0 0 0 UBERON:0004910 "epithelium of male gonad" 0 0 0 0 0 1 http://identifiers.org/hgnc/10397 "RPS17" 0 0 0 0 0 0 -MONDO:0016535 "hypohidrotic ectodermal dysplasia" 1 16 0 0 0 0 +MONDO:0016535 "hypohidrotic ectodermal dysplasia" 1 15 0 0 0 0 MONDO:0018392 "obsolete male infertility with spermatogenesis disorder due to single gene mutation" 0 4 0 0 0 0 -MONDO:0002204 "transient arthritis" 1 9 0 0 0 1 +MONDO:0002204 "transient arthritis" 1 8 0 0 0 1 UBERON:0002204 "musculoskeletal system" 0 0 0 0 0 0 UBERON:0034736 "coracoclavicular ligament" 0 0 0 0 0 1 http://identifiers.org/hgnc/2482 "CSTB" 0 0 0 0 0 0 @@ -10642,7 +10663,7 @@ MONDO:0036870 "lymphatic vessel neoplasm" 1 2 0 0 0 1 http://identifiers.org/hgnc/20330 "POMP" 0 0 0 0 0 0 MONDO:0014382 "tall stature-intellectual disability-facial dysmorphism syndrome" 0 5 0 0 0 0 CL:2000015 "fibroblast of arm" 1 0 0 0 0 1 -MONDO:0015855 "isolated congenital breast hypoplasia/aplasia" 0 5 0 0 0 0 +MONDO:0015855 "isolated congenital breast hypoplasia/aplasia" 0 4 0 0 0 0 MONDO:0016929 "partial duplication of chromosome 8" 0 3 0 0 0 1 ECTO:0000724 "exposure to genotoxin" 1 0 0 0 0 1 MONDO:0007506 "obsoleted echo virus 11 sensitivity" 0 3 0 0 0 0 @@ -10683,8 +10704,9 @@ MONDO:0007568 "aortic aneurysm, familial thoracic 4" 1 5 0 0 0 1 GO:0001217 "DNA-binding transcription repressor activity" 1 0 0 0 0 1 MONDO:0016573 "acute fatty liver of pregnancy" 1 7 0 0 0 0 GO:0016021 "integral component of membrane" 1 0 0 0 0 0 -MONDO:0012902 "autosomal dominant nonsyndromic hearing loss 27" 1 3 0 0 0 0 +MONDO:0012902 "autosomal dominant nonsyndromic hearing loss 27" 1 2 0 0 0 0 MONDO:0019143 "angiostrongyliasis" 1 11 0 0 0 0 +MONDO:0017011 "obsolete uniparental disomy of chromosome X" 0 2 0 0 0 0 MONDO:0015752 "intellectual disability-cataracts-kyphosis syndrome" 1 2 0 0 0 0 http://identifiers.org/hgnc/14561 "ARHGEF9" 0 0 0 0 0 0 http://identifiers.org/hgnc/3804 "FOXD3" 0 0 0 0 0 0 @@ -10692,7 +10714,7 @@ MONDO:0021257 "glomus jugulare neoplasm" 1 1 0 0 0 1 UBERON:0003420 "mesenchyme of sublingual gland" 0 0 0 0 0 1 http://identifiers.org/hgnc/11948 "TNNT1" 0 0 0 0 0 0 http://identifiers.org/hgnc/11949 "TNNT2" 0 0 0 0 0 0 -MONDO:0012688 "cataract 17 multiple types" 1 7 0 0 0 1 +MONDO:0012688 "cataract 17 multiple types" 1 6 0 0 0 1 MONDO:0100079 "developmental and epileptic encephalopathy, 6" 1 1 0 0 0 0 MONDO:0008540 "extensor tendons of finger anomalies" 0 5 0 0 0 0 GO:0014050 "negative regulation of glutamate secretion" 1 0 0 0 0 1 @@ -10704,7 +10726,7 @@ FOODON:00001180 "prepared food product"@en 1 0 0 0 0 0 PCO:0000000 "collection of organisms"@en 1 0 0 0 0 0 MONDO:0005951 "obsolete sarcocystosis" 0 0 0 0 0 0 GO:0001809 "positive regulation of type IV hypersensitivity" 1 0 0 0 0 1 -MONDO:0001041 "dentin caries" 1 5 0 0 0 1 +MONDO:0001041 "dentin caries" 1 4 0 0 0 1 http://identifiers.org/hgnc/21181 "SUMO4" 0 0 0 0 0 0 MONDO:0009242 "brittle cornea syndrome" 1 10 0 0 0 0 MONDO:0032703 "short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis" 0 1 0 0 0 0 @@ -10714,7 +10736,7 @@ HP:0040064 "Abnormality of limbs" 0 3 0 0 0 0 MONDO:0037807 "glycerol metabolism disease" 1 2 0 0 0 1 MONDO:0011876 "juvenile absence epilepsy" 1 9 0 0 0 0 MONDO:0017434 "obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy" 0 2 0 0 0 0 -MONDO:0019455 "acute panmyelosis with myelofibrosis" 1 10 0 0 0 0 +MONDO:0019455 "acute panmyelosis with myelofibrosis" 1 9 0 0 0 0 MONDO:0013894 "short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome" 0 4 0 0 0 0 MONDO:0019099 "obsolete rare soft tissue tumor" 1 1 0 0 0 0 MONDO:0020134 "cystic malformation of the posterior fossa" 0 3 0 0 0 0 @@ -10746,12 +10768,12 @@ GO:0071407 "cellular response to organic cyclic compound" 1 0 0 0 0 0 UBERON:0002787 "decussation of trochlear nerve" 0 0 0 0 0 1 http://identifiers.org/hgnc/9811 "RAD21" 0 0 0 0 0 0 MONDO:0019896 "Kleefstra syndrome due to 9q34 microdeletion" 0 4 0 0 0 0 -MONDO:0001474 "chronic salpingo-oophoritis" 1 6 0 0 0 1 +MONDO:0001474 "chronic salpingo-oophoritis" 1 4 0 0 0 1 MONDO:0022989 "diomedi bernardi placidi syndrome" 0 1 0 0 0 0 NCBITaxon:2732421 "Papovaviricetes" 0 1 0 0 0 0 http://identifiers.org/hgnc/9177 "POLE" 0 0 0 0 0 0 UBERON:0001818 "tarsal gland" 0 0 0 0 0 1 -MONDO:0007019 "vulvovaginitis" 1 8 0 0 0 1 +MONDO:0007019 "vulvovaginitis" 1 7 0 0 0 1 http://identifiers.org/hgnc/7527 "MUTYH" 0 0 0 0 0 0 MONDO:0010804 "obsolete BRCATA" 0 2 0 0 0 0 http://identifiers.org/hgnc/9179 "POLG" 0 0 0 0 0 0 @@ -10767,7 +10789,7 @@ GO:0002796 "positive regulation of antimicrobial peptide secretion" 1 0 0 0 0 1 http://identifiers.org/hgnc/10024 "RLBP1" 0 0 0 0 0 0 http://identifiers.org/hgnc/24268 "ASCC1" 0 0 0 0 0 0 http://identifiers.org/hgnc/4800 "HSD17B10" 0 0 0 0 0 0 -MONDO:0005625 "cerebral malaria" 1 9 0 0 0 1 +MONDO:0005625 "cerebral malaria" 1 8 0 0 0 1 MONDO:0005947 "rickettsial pneumonia" 1 5 0 0 0 1 GO:0030224 "monocyte differentiation" 1 0 0 0 0 0 MONDO:0004466 "neuronitis" 0 3 0 0 0 1 @@ -10850,7 +10872,7 @@ MONDO:0000037 "obsolete herpes simplex encephalitis, susceptibility" 0 0 0 0 0 0 NCBITaxon:418103 "Plasmodium (Plasmodium)" 0 1 0 0 0 0 MONDO:0011391 "megalencephalic leukoencephalopathy with subcortical cysts" 1 10 0 0 0 0 MONDO:0003207 "obsolete eccrine adenocarcinoma" 0 0 0 0 0 0 -MONDO:0021023 "complete androgen insensitivity syndrome" 1 9 0 0 0 0 +MONDO:0021023 "complete androgen insensitivity syndrome" 1 8 0 0 0 0 MONDO:0030428 "immunodeficiency 85 and autoimmunity" 0 1 0 0 0 0 MONDO:0008735 "adrenocortical unresponsiveness to ACTH with postreceptor defect" 0 4 0 0 0 0 MONDO:0010345 "obsolete ocular albinism" 0 0 0 0 0 0 @@ -10861,7 +10883,6 @@ UBERON:0001302 "right uterine tube" 0 0 0 0 0 1 MONDO:0003470 "cellular ependymoma" 1 5 0 0 0 0 GO:0022890 "inorganic cation transmembrane transporter activity" 1 0 0 0 0 0 MONDO:0001967 "gonadal dysgenesis" 1 7 0 0 0 0 -http://identifiers.org/hgnc/27232 "C8orf37" 0 0 0 0 0 0 UBERON:0002808 "left temporal lobe" 0 0 0 0 0 1 GO:0016042 "lipid catabolic process" 1 0 0 0 0 0 MONDO:0012040 "inflammatory bowel disease 9" 1 4 0 0 0 0 @@ -10873,8 +10894,8 @@ MONDO:0003306 "atypical neurofibroma" 1 3 0 0 0 0 GO:0016444 "somatic cell DNA recombination" 1 0 0 0 0 0 MONDO:0020790 "gaze palsy, familial horizontal, with progressive scoliosis 1" 0 1 0 0 0 0 ENVO:00000020 "lake" 1 0 0 0 0 1 -MONDO:0008919 "systemic primary carnitine deficiency disease" 1 13 0 0 0 0 -MONDO:0014220 "myopathy due to myoadenylate deaminase deficiency" 0 3 0 0 0 1 +MONDO:0008919 "systemic primary carnitine deficiency disease" 1 11 0 0 0 0 +MONDO:0014220 "myopathy due to myoadenylate deaminase deficiency" 0 3 0 0 0 0 MONDO:0003966 "testicular monophasic choriocarcinoma" 1 3 0 0 0 0 CL:0002006 "Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell" 1 0 0 0 0 0 GO:0002087 "regulation of respiratory gaseous exchange by nervous system process" 1 0 0 0 0 1 @@ -10905,7 +10926,7 @@ MONDO:0001647 "benign renovascular hypertension" 0 2 0 0 0 0 MONDO:0013359 "familial hyperaldosteronism type III" 1 7 0 0 0 0 MONDO:0029136 "muscular dystrophy, limb-girdle, autosomal recessive 23" 0 2 0 0 0 1 MONDO:0013044 "atypical hemolytic-uremic syndrome with thrombomodulin anomaly" 0 4 0 0 0 0 -MONDO:0056799 "synovium disorder" 1 4 0 0 0 1 +MONDO:0056799 "synovium disorder" 1 5 0 0 0 1 MONDO:0004858 "occlusion of gallbladder" 1 6 0 0 0 0 MONDO:0008127 "ophthalmomandibulomelic dysplasia" 1 7 0 0 0 0 GO:0080144 "amino acid homeostasis" 1 0 0 0 0 0 @@ -10937,8 +10958,8 @@ MONDO:0016633 "obsolete thrombotic disorder due to a constitutional coagulation MONDO:0036990 "benign Leydig cell tumor" 1 3 0 0 0 1 UBERON:0005629 "vascular plexus" 0 0 0 0 0 0 MONDO:0009343 "Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect" 0 5 0 0 0 0 -MONDO:0008386 "Axenfeld-Rieger syndrome type 1" 1 6 0 0 0 1 -MONDO:0043895 "ankle injury" 1 3 0 0 0 1 +MONDO:0008386 "Axenfeld-Rieger syndrome type 1" 1 5 0 0 0 1 +MONDO:0043895 "ankle injury" 1 4 0 0 0 1 MONDO:0016713 "central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor" 1 3 0 0 0 1 MONDO:0015897 "obsolete rare hyperparathyroidism" 1 1 0 0 0 0 CHR:9606-chr19p13.12 "19p13.12 (Human)" 0 0 0 0 0 0 @@ -10946,7 +10967,7 @@ MONDO:0011112 "Wilms tumor 5" 1 4 0 0 0 1 MONDO:0030917 "intellectual disability, autosomal dominant 51" 0 3 0 0 0 0 MONDO:0030918 "intellectual disability, autosomal dominant 52" 0 4 0 0 0 0 NCBITaxon:29189 "Ammonia" 0 1 0 0 0 0 -MONDO:0011895 "idiopathic hypereosinophilic syndrome" 0 5 0 0 0 1 +MONDO:0011895 "idiopathic hypereosinophilic syndrome" 0 4 0 0 0 1 NCBITaxon:136 "Spirochaetales" 0 6 0 0 0 0 GO:1903038 "negative regulation of leukocyte cell-cell adhesion" 1 0 0 0 0 1 MONDO:0002176 "obsolete connective tissue cancer" 1 4 0 0 0 0 @@ -10984,7 +11005,7 @@ http://identifiers.org/hgnc/17997 "FKRP" 0 0 0 0 0 0 UBERON:0005205 "lamina propria of vagina" 0 0 0 0 0 1 MONDO:0001872 "obsolete vestibular nystagmus" 0 4 0 0 0 0 NCBITaxon:7961 "Cyprinus" 0 1 0 0 0 0 -MONDO:0001973 "Brucella abortus brucellosis" 1 5 0 0 0 1 +MONDO:0001973 "Brucella abortus brucellosis" 1 4 0 0 0 1 NCBITaxon:1913637 "Mucoromycota" 0 2 0 0 0 0 MONDO:0014481 "inflammatory skin and bowel disease, neonatal, 2" 1 3 0 0 0 1 MONDO:0007838 "Jacobsen syndrome" 1 8 0 0 0 0 @@ -11019,9 +11040,9 @@ UBERON:0007177 "lamina propria of mucosa of colon" 0 0 0 0 0 1 GO:1900451 "positive regulation of glutamate receptor signaling pathway" 1 0 0 0 0 1 GO:0005496 "steroid binding" 1 0 0 0 0 0 MONDO:0021474 "benign neoplasm of ear" 1 3 0 0 0 1 -MONDO:0013638 "Warburg micro syndrome 3" 1 5 0 0 0 1 +MONDO:0013638 "Warburg micro syndrome 3" 1 4 0 0 0 1 UBERON:0015150 "dorsal hair" 0 0 0 0 0 1 -MONDO:0018536 "adenocarcinoma of gallbladder and extrahepatic biliary tract" 1 8 0 0 0 1 +MONDO:0018536 "adenocarcinoma of gallbladder and extrahepatic biliary tract" 1 3 0 0 0 1 SO:0000209 "rRNA_primary_transcript" 1 0 0 0 0 0 UBERON:0001000 "vas deferens" 0 0 0 0 0 0 UBERON:0009477 "associated mesenchyme of otic placode" 0 0 0 0 0 1 @@ -11067,19 +11088,19 @@ UBERON:0005685 "midgut dorsal mesentery" 0 0 0 0 0 1 http://identifiers.org/hgnc/14282 "IRF2BPL" 0 0 0 0 0 0 MONDO:0020753 "Orthocoronavirinae infectious disease" 1 1 0 0 0 1 MONDO:0017929 "congenital achiasma" 1 3 0 0 0 0 -MONDO:0013305 "autosomal dominant nonsyndromic hearing loss 51" 1 4 0 0 0 0 +MONDO:0013305 "autosomal dominant nonsyndromic hearing loss 51" 1 3 0 0 0 0 MONDO:0007083 "autosomal dominant palmoplantar keratoderma and congenital alopecia" 1 5 0 0 0 0 -MONDO:0004636 "lip carcinoma in situ" 1 7 0 0 0 1 +MONDO:0004636 "lip carcinoma in situ" 1 6 0 0 0 1 MONDO:0009336 "hemosiderosis, pulmonary, with deficiency of gamma-a globulin" 0 2 0 0 0 0 HP:0002463 "Language impairment" 1 3 0 0 0 0 UBERON:0004777 "respiratory system submucosa" 0 0 0 0 0 1 -MONDO:0017907 "primary lymphoma of the conjunctiva" 1 4 0 0 0 1 +MONDO:0017907 "primary lymphoma of the conjunctiva" 1 3 0 0 0 1 MONDO:0006389 "prostate rhabdomyosarcoma" 1 4 0 0 0 1 ECTO:9001711 "exposure to antiinfective agent" 1 0 0 0 0 1 MONDO:0023650 "littoral cell angioma of the spleen" 1 4 0 0 0 0 MONDO:0013048 "hereditary spastic paraplegia 50" 1 5 0 0 0 1 MONDO:0000221 "obsolete cerebroretinal microangiopathy with calcifications and cysts" 0 0 0 0 0 0 -MONDO:0005101 "ulcerative colitis" 1 15 0 0 0 0 +MONDO:0005101 "ulcerative colitis" 1 13 0 0 0 0 CHEBI:84735 "algal metabolite" 1 0 0 0 0 0 HP:0002793 "Abnormal pattern of respiration" 1 1 0 0 0 0 http://identifiers.org/hgnc/29174 "WASHC4" 0 0 0 0 0 0 @@ -11100,7 +11121,7 @@ MONDO:0005783 "hemopericardium" 1 7 0 0 0 0 http://identifiers.org/hgnc/6138 "ITGA2B" 0 0 0 0 0 0 http://identifiers.org/hgnc/18053 "PKD1L1" 0 0 0 0 0 0 MONDO:0011915 "mitral valve prolapse, myxomatous 2" 0 3 0 0 0 0 -MONDO:0018509 "squamous cell carcinoma of the small intestine" 1 9 0 0 0 1 +MONDO:0018509 "squamous cell carcinoma of the small intestine" 1 4 0 0 0 1 GO:0005652 "nuclear lamina" 1 0 0 0 0 0 ENVO:01001788 "marine ecosystem"@en 0 0 0 0 0 1 HP:0100799 "Neoplasm of the middle ear" 1 3 0 0 0 0 @@ -11110,7 +11131,7 @@ http://identifiers.org/hgnc/2591 "CYP11B1" 0 0 0 0 0 0 MONDO:0012699 "autosomal recessive limb-girdle muscular dystrophy type 2M" 1 7 0 0 0 1 UBERON:0004357 "paired limb/fin bud" 0 0 0 0 0 0 UBERON:0001995 "fibrocartilage" 0 0 0 0 0 0 -MONDO:0015177 "metaphyseal anadysplasia" 1 9 0 0 0 0 +MONDO:0015177 "metaphyseal anadysplasia" 1 10 0 0 0 0 http://identifiers.org/hgnc/20773 "TUBB8" 0 0 0 0 0 0 CHR:9606-chr5q1 "5q1 (Human)" 0 0 0 0 0 0 GO:0006766 "vitamin metabolic process" 1 0 0 0 0 0 @@ -11124,7 +11145,7 @@ GO:0019900 "kinase binding" 1 0 0 0 0 0 MONDO:0011801 "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1" 1 9 0 0 0 0 MONDO:0016098 "immune-mediated necrotizing myopathy" 1 4 0 0 0 0 MONDO:0012092 "hereditary sensory and autonomic neuropathy type 5" 1 10 0 0 0 1 -MONDO:0005898 "paronychia" 1 9 0 0 0 0 +MONDO:0005898 "paronychia" 1 8 0 0 0 0 GO:0030162 "regulation of proteolysis" 1 0 0 0 0 1 HsapDv:0000096 "2-year-old human stage" 1 0 0 0 0 0 MONDO:0008734 "adrenocortical carcinoma, hereditary" 1 3 0 0 0 1 @@ -11132,13 +11153,13 @@ MONDO:0014920 "patterned macular dystrophy 3" 1 5 0 0 0 1 MONDO:0002323 "cherry hemangioma" 1 4 0 0 0 0 MONDO:0013622 "platelet-type bleeding disorder 9" 1 6 0 0 0 1 http://identifiers.org/hgnc/14544 "WNK4" 0 0 0 0 0 0 -MONDO:0001019 "suppression amblyopia" 1 5 0 0 0 0 +MONDO:0001019 "suppression amblyopia" 1 4 0 0 0 0 UBERON:0010243 "merocrine gland" 0 0 0 0 0 1 UBERON:0007772 "scrotal sweat" 0 0 0 0 0 1 GO:0022602 "ovulation cycle process" 1 0 0 0 0 1 MONDO:0014773 "cardiac anomalies - developmental delay - facial dysmorphism syndrome" 0 6 0 0 0 0 -MONDO:0100345 "lactose intolerance" 0 11 0 0 0 0 -MONDO:0004751 "disease of orbital part of eye adnexa" 1 7 0 0 0 0 +MONDO:0100345 "lactose intolerance" 0 9 0 0 0 0 +MONDO:0004751 "disease of orbital part of eye adnexa" 1 5 0 0 0 0 MONDO:0017969 "46,XY disorder of sex development of endocrine origin" 0 2 0 0 0 0 MONDO:0001602 "labia minora carcinoma" 1 3 0 0 0 1 UBERON:0000305 "amnion" 0 0 0 0 0 0 @@ -11159,13 +11180,13 @@ http://identifiers.org/hgnc/2592 "CYP11B2" 0 0 0 0 0 0 MONDO:0044816 "familial idiopathic torsion dystonia" 1 2 0 0 0 1 MONDO:0004531 "sclerosing adenosis of breast" 1 4 0 0 0 0 MONDO:0000020 "obsolete elliptocytosis" 0 0 0 0 0 0 -MONDO:0011485 "autosomal recessive congenital ichthyosis 5" 1 6 0 0 0 0 +MONDO:0011485 "autosomal recessive congenital ichthyosis 5" 1 5 0 0 0 0 CHEBI:35785 "sphingoid" 1 0 0 0 0 0 MONDO:0002391 "obsolete skin sarcoma" 0 0 0 0 0 0 UBERON:0004340 "allantois" 0 0 0 0 0 0 MONDO:0020410 "aorto-right ventricular tunnel" 0 2 0 0 0 0 MONDO:0006843 "macular holes" 1 5 0 0 0 0 -MONDO:0004923 "chronic inflammation of lacrimal passage" 0 5 0 0 0 1 +MONDO:0004923 "chronic inflammation of lacrimal passage" 0 4 0 0 0 1 MONDO:0005593 "chronic periodontitis" 1 10 0 0 0 1 UBERON:0009576 "medulla oblongata sulcus limitans" 0 0 0 0 0 1 MONDO:0005939 "Reoviridae infectious disease" 1 3 0 0 0 1 @@ -11185,19 +11206,19 @@ MONDO:0017724 "Tay-Sachs disease, b variant, infantile form" 0 3 0 0 0 0 http://identifiers.org/hgnc/9509 "PSEN2" 0 0 0 0 0 0 UBERON:0002240 "spinal cord" 0 0 0 0 0 0 UBERON:0003716 "recurrent laryngeal nerve" 0 0 0 0 0 0 -MONDO:0014687 "retinitis pigmentosa 73" 1 4 0 0 0 1 +MONDO:0014687 "retinitis pigmentosa 73" 1 3 0 0 0 1 NBO:0000389 "reflexive behavior" 1 0 0 0 0 1 MONDO:0011552 "schizophrenia 10" 1 3 0 0 0 0 -MONDO:0017870 "supravalvular pulmonary stenosis" 0 3 0 0 0 0 +MONDO:0017870 "supravalvular pulmonary stenosis" 0 2 0 0 0 0 HP:0010876 "Abnormal circulating protein concentration" 1 3 0 0 0 0 UBERON:0005970 "brain commissure" 0 0 0 0 0 1 MONDO:0004530 "early invasive cervical adenocarcinoma" 1 3 0 0 0 0 MONDO:0021140 "congenital" 1 0 0 0 0 0 GO:0061035 "regulation of cartilage development" 1 0 0 0 0 1 FOODON:00002505 "dairy cattle"@en 1 0 0 0 0 0 -MONDO:0019203 "acute interstitial pneumonia" 1 11 0 0 0 0 +MONDO:0019203 "acute interstitial pneumonia" 1 10 0 0 0 0 MONDO:0012715 "migraine with or without aura, susceptibility to, 12" 0 1 0 0 0 0 -MONDO:0013984 "autosomal recessive nonsyndromic hearing loss 84B" 1 4 0 0 0 1 +MONDO:0013984 "autosomal recessive nonsyndromic hearing loss 84B" 1 3 0 0 0 1 MONDO:0044763 "diarrheal disease secondary to decreased bowel motility" 1 0 0 0 0 0 FOODON:00001172 "nut food product"@en 0 1 0 0 0 0 MONDO:0008890 "progressive bulbar palsy" 1 11 0 0 0 0 @@ -11218,7 +11239,7 @@ MONDO:0021176 "autoimmune hepatitis type 2" 1 3 0 0 0 0 MONDO:0005421 "obsolete infantile hypertrophic pyloric stenosis" 0 0 0 0 0 0 MONDO:0008174 "pachyonychia congenita 2" 1 2 0 0 0 1 MONDO:0012429 "Aicardi-Goutieres syndrome 2" 1 4 0 0 0 1 -MONDO:0006760 "fetal erythroblastosis" 1 10 0 0 0 0 +MONDO:0006760 "fetal erythroblastosis" 1 8 0 0 0 0 MONDO:0001866 "bipolar I disorder" 1 4 0 0 0 0 MONDO:0010755 "vesicoureteral reflux, X-linked" 0 3 0 0 0 0 MONDO:0014638 "Fanconi anemia complementation group T" 1 3 0 0 0 1 @@ -11251,10 +11272,10 @@ UBERON:0000171 "respiration organ" 0 0 0 0 0 1 GO:0030258 "lipid modification" 1 0 0 0 0 0 UBERON:0006537 "female reproductive gland secretion" 0 0 0 0 0 1 GO:0060089 "molecular transducer activity" 1 0 0 0 0 0 -MONDO:0006716 "coronary thrombosis" 1 8 0 0 0 1 +MONDO:0006716 "coronary thrombosis" 1 6 0 0 0 1 http://identifiers.org/hgnc/3959 "FRZB" 0 0 0 0 0 0 MONDO:0006853 "mesenchymal chondrosarcoma" 1 8 0 0 0 0 -MONDO:0013468 "retinitis pigmentosa 59" 1 4 0 0 0 1 +MONDO:0013468 "retinitis pigmentosa 59" 1 3 0 0 0 1 MONDO:0017897 "obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" 1 3 0 0 0 0 UBERON:0003837 "thoracic segment connective tissue" 0 0 0 0 0 1 UBERON:0003066 "pharyngeal arch 2" 0 0 0 0 0 0 @@ -11262,7 +11283,7 @@ MONDO:0016872 "partial deletion of chromosome 7" 0 2 0 0 0 1 MONDO:0016871 "partial deletion of chromosome 6" 0 2 0 0 0 1 HP:0011004 "Abnormal systemic arterial morphology" 1 4 0 0 0 0 UBERON:0029503 "sacral spinal cord gray matter" 0 0 0 0 0 1 -MONDO:0020317 "acute myeloid leukemia with 11q23 abnormalities" 1 5 0 0 0 0 +MONDO:0020317 "acute myeloid leukemia with 11q23 abnormalities" 1 4 0 0 0 0 MONDO:0043452 "chromosome 8, trisomy" 1 3 0 0 0 1 GO:0045911 "positive regulation of DNA recombination" 1 0 0 0 0 1 MONDO:0013801 "developmental and epileptic encephalopathy, 13" 1 5 0 0 0 1 @@ -11322,8 +11343,8 @@ UBERON:0005031 "mucosa of upper lip" 0 0 0 0 0 1 MONDO:0003433 "water-clear cell adenoma" 1 4 0 0 0 0 UBERON:0001465 "knee" 0 0 0 0 0 0 http://identifiers.org/hgnc/9076 "PLIN1" 0 0 0 0 0 0 -MONDO:0001223 "parathyroid gland disorder" 1 10 0 0 0 1 -MONDO:0018544 "adrenoleukodystrophy" 1 13 0 0 0 0 +MONDO:0001223 "parathyroid gland disorder" 1 9 0 0 0 1 +MONDO:0018544 "adrenoleukodystrophy" 1 10 0 0 0 0 http://identifiers.org/hgnc/11025 "SLC3A1" 0 0 0 0 0 0 MONDO:0013762 "lipoic acid synthetase deficiency" 1 5 0 0 0 0 MONDO:0007985 "metatarsus varus, type 1" 0 3 0 0 0 0 @@ -11344,7 +11365,7 @@ MONDO:0024486 "obsolete familial chronic mucocutaneous candidiasis" 0 0 0 0 0 0 MONDO:0019994 "maternal uniparental disomy of chromosome 13" 1 3 0 0 0 0 MONDO:0016536 "autosomal recessive lymphoproliferative disease" 1 4 0 0 0 0 GO:0010892 "positive regulation of mitochondrial translation in response to stress" 1 0 0 0 0 1 -MONDO:0020532 "spirillary rat-bite fever" 1 6 0 0 0 1 +MONDO:0020532 "spirillary rat-bite fever" 1 5 0 0 0 1 MONDO:0018589 "AApoAIV amyloidosis" 0 2 0 0 0 0 CHR:9606-chr11q "11q (Human)" 0 0 0 0 0 0 MONDO:0014066 "mitochondrial complex III deficiency nuclear type 5" 1 4 0 0 0 1 @@ -11376,18 +11397,19 @@ MONDO:0001747 "tibial collateral ligament bursitis" 0 4 0 0 0 0 CL:0002433 "CD69-positive, CD4-positive single-positive thymocyte" 1 0 0 0 0 0 MONDO:0013216 "Diamond-Blackfan anemia 9" 1 4 0 0 0 1 UBERON:0011374 "prepuce" 0 0 0 0 0 0 -MONDO:0004665 "nodular sclerosis classical Hodgkin lymphoma" 1 8 0 0 0 0 +MONDO:0004665 "nodular sclerosis classical Hodgkin lymphoma" 1 7 0 0 0 0 http://identifiers.org/hgnc/4573 "GRIA3" 0 0 0 0 0 0 HP:0002652 "Skeletal dysplasia" 1 5 0 0 0 0 MONDO:0018255 "spondylometaphyseal dysplasia, Czarny-Ratajczak type" 0 2 0 0 0 0 MONDO:0024988 "sex cord-stromal benign neoplasm" 1 1 0 0 0 1 GO:0080145 "cysteine homeostasis" 1 0 0 0 0 0 -MONDO:0006008 "vestibular neuronitis" 1 10 0 0 0 1 -MONDO:0014692 "retinitis pigmentosa 74" 1 5 0 0 0 1 +MONDO:0006008 "vestibular neuronitis" 1 8 0 0 0 1 +MONDO:0014692 "retinitis pigmentosa 74" 1 4 0 0 0 1 MONDO:0005391 "restless legs syndrome" 1 18 0 0 0 0 MONDO:0004206 "pulmonary vein leiomyosarcoma" 1 3 0 0 0 1 -MONDO:0010481 "angioedema" 1 10 0 0 0 0 -MONDO:0006653 "anthracosilicosis" 1 9 0 0 0 0 +MONDO:0010481 "angioedema" 1 9 0 0 0 0 +MONDO:0014320 "Bosch-Boonstra-Schaaf optic atrophy syndrome" 1 4 0 0 0 0 +MONDO:0006653 "anthracosilicosis" 1 8 0 0 0 0 MONDO:0003959 "breast large cell neuroendocrine carcinoma" 1 3 0 0 0 1 MONDO:0018782 "type 1 interferonopathy" 0 1 0 0 0 0 http://identifiers.org/hgnc/3600 "FBLN1" 0 0 0 0 0 0 @@ -11404,7 +11426,6 @@ UBERON:0022297 "palpebral branch of infra-orbital nerve" 0 0 0 0 0 0 http://identifiers.org/hgnc/14468 "SLC26A8" 0 0 0 0 0 0 MONDO:0019332 "punctate palmoplantar keratoderma type 1" 1 7 0 0 0 0 MONDO:0007585 "exostoses, multiple, type 1" 1 3 0 0 0 1 -MONDO:0018983 "tolosa-Hunt syndrome" 1 11 0 0 0 0 UBERON:0004862 "left lung alveolus" 0 0 0 0 0 1 MONDO:0007799 "hypophosphatemic bone disease" 0 3 0 0 0 0 MONDO:0006495 "obsolete marginal zone B-cell lymphoma" 0 0 0 0 0 0 @@ -11429,23 +11450,23 @@ GO:0097690 "iron ion transmembrane transporter inhibitor activity" 1 0 0 0 0 1 UBERON:0003258 "endoderm of foregut" 0 0 0 0 0 1 MONDO:0023868 "melanoma associated retinopathy" 1 3 0 0 0 1 MONDO:0000669 "color agnosia" 1 1 0 0 0 0 -MONDO:0019880 "distal trisomy 5q" 1 3 0 0 0 0 +MONDO:0019880 "distal trisomy 5q" 1 2 0 0 0 0 MONDO:0016606 "obsolete prenatal benign hypophosphatasia" 1 3 0 0 0 0 MONDO:0014608 "mandibulofacial dysostosis with alopecia" 1 5 0 0 0 0 HP:0001877 "Abnormal erythrocyte morphology" 1 3 0 0 0 0 -MONDO:0003107 "infratentorial cancer" 1 5 0 0 0 0 -MONDO:0004055 "acute inflammation of lacrimal passage" 0 5 0 0 0 0 +MONDO:0003107 "infratentorial cancer" 1 4 0 0 0 0 +MONDO:0004055 "acute inflammation of lacrimal passage" 0 4 0 0 0 0 NCBITaxon:5052 "Aspergillus" 0 3 0 0 0 0 MONDO:0008072 "IgA nephropathy, susceptibility to, 1" 0 2 0 0 0 0 MONDO:0018461 "Angelman syndrome due to a point mutation" 0 3 0 0 0 0 MONDO:0007586 "exostoses, multiple, type 2" 1 5 0 0 0 1 HP:0002110 "Bronchiectasis" 1 3 0 0 0 0 -MONDO:0001589 "obsolete vaginal enterocele" 0 5 0 0 0 0 +MONDO:0001589 "obsolete vaginal enterocele" 0 3 0 0 0 0 MONDO:0008573 "tibial torsion, bilateral medial" 0 3 0 0 0 0 MONDO:0002798 "childhood central nervous system primitive neuroectodermal neoplasm" 1 3 0 0 0 1 MONDO:0000291 "granulomatous amebic encephalitis" 1 5 0 0 0 0 UBERON:0001978 "parenchyma of pancreas" 0 0 0 0 0 1 -MONDO:0019879 "distal trisomy 4q" 1 3 0 0 0 0 +MONDO:0019879 "distal trisomy 4q" 1 2 0 0 0 0 MONDO:0009003 "achromatopsia 2" 1 5 0 0 0 1 HP:0040126 "Abnormal vitamin B12 level" 1 1 0 0 0 0 MONDO:0013424 "3p- syndrome" 1 9 0 0 0 0 @@ -11494,10 +11515,10 @@ GO:1900404 "positive regulation of DNA repair by positive regulation of transcri MONDO:0007709 "hematuria, benign familial" 0 4 0 0 0 0 CL:1000692 "kidney interstitial fibroblast" 0 1 0 0 0 0 MONDO:0019625 "familial thoracic aortic aneurysm and aortic dissection" 1 24 0 0 0 0 -MONDO:0010283 "syndromic X-linked intellectual disability Lubs type" 1 12 0 0 0 0 +MONDO:0010283 "syndromic X-linked intellectual disability Lubs type" 1 11 0 0 0 0 MONDO:0000389 "atelosteogenesis" 0 7 0 0 0 0 MONDO:0004851 "toxic myocarditis" 0 4 0 0 0 0 -MONDO:0016846 "distal 22q11.2 microduplication syndrome" 1 4 0 0 0 0 +MONDO:0016846 "distal 22q11.2 microduplication syndrome" 1 3 0 0 0 0 MONDO:0015313 "choanal atresia, bilateral" 1 3 0 0 0 0 MONDO:0017765 "disorder of magnesium transport" 1 3 0 0 0 1 MONDO:0004153 "childhood central nervous system embryonal carcinoma" 1 3 0 0 0 1 @@ -11519,7 +11540,7 @@ GO:0006906 "vesicle fusion" 1 0 0 0 0 0 UBERON:0016392 "mastoid lymph node" 0 0 0 0 0 0 MONDO:0019955 "GRFoma" 1 3 0 0 0 0 CL:0002020 "GlyA-positive reticulocytes" 1 0 0 0 0 0 -MONDO:0018037 "hyper-IgE syndrome" 1 7 0 0 0 0 +MONDO:0018037 "hyper-IgE syndrome" 1 8 0 0 0 0 UBERON:0003827 "thoracic segment bone" 0 0 0 0 0 1 MONDO:0005972 "streptococcal pneumonia" 1 9 0 0 0 1 MONDO:0022761 "chromosome 3 duplication syndrome" 0 2 0 0 0 0 @@ -11535,11 +11556,11 @@ MONDO:0007005 "ulcerative proctosigmoiditis" 1 3 0 0 0 0 HP:0200042 "Skin ulcer" 1 4 0 0 0 0 http://identifiers.org/hgnc/3018 "SLC26A3" 0 0 0 0 0 0 MONDO:0032925 "respiratory papillomatosis, juvenile recurrent, congenital" 0 1 0 0 0 0 -MONDO:0018116 "galactosemia" 1 15 0 0 0 0 -MONDO:0004625 "phlebitis" 1 6 0 0 0 1 +MONDO:0018116 "galactosemia" 1 14 0 0 0 0 +MONDO:0004625 "phlebitis" 1 5 0 0 0 1 MONDO:0011194 "Alzheimer disease 5" 0 5 0 0 0 0 MONDO:0005828 "listeriosis" 1 15 0 0 0 1 -MONDO:0000751 "cervical polyp" 1 9 0 0 0 1 +MONDO:0000751 "cervical polyp" 1 7 0 0 0 1 MONDO:0014240 "periventricular nodular heterotopia 6" 1 4 0 0 0 1 NCBITaxon:40121 "Erythroparvovirus" 0 1 0 0 0 0 http://identifiers.org/hgnc/13243 "LMBR1" 0 0 0 0 0 0 @@ -11566,7 +11587,7 @@ MONDO:0012058 "myocardial infarction, susceptibility to, 2" 0 2 0 0 0 0 NCBITaxon:5740 "Giardia " 0 1 0 0 0 0 UBERON:0001157 "transverse colon" 0 0 0 0 0 0 MONDO:0014960 "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" 0 2 0 0 0 0 -MONDO:0017689 "disorder of fructose metabolism" 0 4 0 0 0 1 +MONDO:0017689 "disorder of fructose metabolism" 0 3 0 0 0 1 MONDO:0018140 "obsolete burning mouth syndrome" 0 0 0 0 0 0 MONDO:0013920 "herpes simplex encephalitis, susceptibility to, 3" 1 2 0 0 0 1 MONDO:0013921 "herpes simplex encephalitis, susceptibility to, 4" 1 2 0 0 0 1 @@ -11578,7 +11599,7 @@ MONDO:0018151 "coenzyme Q10 deficiency" 1 15 0 0 0 1 HP:0000347 "Micrognathia" 1 6 0 0 0 0 MONDO:0004237 "large cell carcinoma with rhabdoid phenotype" 1 5 0 0 0 0 UBERON:0019291 "white matter of metencephalon" 0 0 0 0 0 1 -MONDO:0019716 "overgrowth syndrome" 1 5 0 0 0 0 +MONDO:0019716 "overgrowth syndrome" 1 4 0 0 0 0 NCBITaxon:54281 "Chrysomyini" 0 1 0 0 0 0 UBERON:0004384 "epiphysis of femur" 0 0 0 0 0 1 MONDO:0032926 "sandestig-stefanova syndrome" 0 1 0 0 0 0 @@ -11587,7 +11608,7 @@ MONDO:0002828 "Bartholin gland transitional cell carcinoma" 1 3 0 0 0 1 MONDO:0025356 "azoospermia, obstructive, with nephrolithiasis" 0 1 0 0 0 0 GO:0080134 "regulation of response to stress" 1 0 0 0 0 1 MONDO:0010309 "intellectual disability, X-linked 42" 0 3 0 0 0 0 -MONDO:0013250 "autosomal recessive nonsyndromic hearing loss 85" 1 4 0 0 0 0 +MONDO:0013250 "autosomal recessive nonsyndromic hearing loss 85" 1 3 0 0 0 0 MONDO:0002911 "brain stem glioma" 1 4 0 0 0 1 MONDO:0009400 "hyperprolinemia type 1" 1 7 0 0 0 1 GO:0030812 "negative regulation of nucleotide catabolic process" 1 0 0 0 0 1 @@ -11613,7 +11634,7 @@ MONDO:0018015 "intermittent hydrarthrosis" 0 4 0 0 0 0 MONDO:0006961 "scrapie" 1 4 0 0 0 0 HP:0003307 "Hyperlordosis" 1 4 0 0 0 0 CHEBI:73216 "EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor" 1 0 0 0 0 0 -MONDO:0001286 "exotropia" 1 9 0 0 0 0 +MONDO:0001286 "exotropia" 1 8 0 0 0 0 UBERON:0002812 "left cerebral hemisphere" 0 0 0 0 0 1 MONDO:0002987 "spongiotic dermatitis" 1 6 0 0 0 0 MONDO:0060659 "neurodevelopmental disorder with poor language and loss of hand skills" 0 1 0 0 0 0 @@ -11623,22 +11644,22 @@ MONDO:0011012 "African iron overload" 1 7 0 0 0 0 MONDO:0004443 "chest wall parachordoma" 1 3 0 0 0 1 UBERON:0004848 "respiratory system arterial endothelium" 0 0 0 0 0 1 http://identifiers.org/hgnc/3700 "FH" 0 0 0 0 0 0 -MONDO:0012848 "Meckel syndrome, type 6" 1 6 0 0 0 1 +MONDO:0012848 "Meckel syndrome, type 6" 1 5 0 0 0 1 MONDO:0001609 "agranulocytosis" 1 8 0 0 0 0 -MONDO:0005089 "sarcoma" 1 18 0 0 0 0 +MONDO:0005089 "sarcoma" 1 17 0 0 0 0 MONDO:0009776 "spermatogenic failure 1" 0 5 0 0 0 0 UBERON:0010276 "space in vertebral column" 0 0 0 0 0 1 MONDO:0014689 "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome" 0 5 0 0 0 0 HP:0001888 "Lymphopenia" 1 3 0 0 0 0 UBERON:0010575 "manual digit 1 phalanx pre-cartilage condensation" 0 0 0 0 0 1 http://identifiers.org/hgnc/6990 "MECP2" 0 0 0 0 0 0 -MONDO:0007243 "Burkitt lymphoma" 1 18 0 0 0 0 +MONDO:0007243 "Burkitt lymphoma" 1 16 0 0 0 0 MONDO:0011072 "diabetes mellitus, noninsulin-dependent, 2" 0 3 0 0 0 0 CHEBI:22315 "alkaloid" 1 0 0 0 0 0 http://identifiers.org/hgnc/3467 "ESR1" 0 0 0 0 0 0 MONDO:0031178 "monosomy 7 myelodysplasia and leukemia syndrome" 0 1 0 0 0 0 MONDO:0043007 "genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome" 1 1 0 0 0 1 -MONDO:0019209 "Japanese encephalitis" 1 11 0 0 0 0 +MONDO:0019209 "Japanese encephalitis" 1 10 0 0 0 0 GO:0002775 "antimicrobial peptide production" 1 0 0 0 0 0 UBERON:0010728 "sphenoid lesser wing pre-cartilage condensation" 0 0 0 0 0 1 MONDO:0003198 "small intestine adenocarcinoma" 1 8 0 0 0 1 @@ -11651,7 +11672,7 @@ MONDO:0019016 "maternally-inherited progressive external ophthalmoplegia" 0 3 0 MONDO:0003139 "mesangial proliferative glomerulonephritis" 1 5 0 0 0 0 MONDO:0015490 "predominantly small-vessel vasculitis" 0 1 0 0 0 0 MONDO:0004418 "microcystic variant infiltrating bladder urothelial carcinoma" 0 3 0 0 0 0 -MONDO:0000748 "mastoiditis" 1 9 0 0 0 1 +MONDO:0000748 "mastoiditis" 1 7 0 0 0 1 MONDO:0020381 "patterned macular dystrophy" 1 9 0 0 0 0 MONDO:0000193 "cortisone reductase deficiency" 1 11 0 0 0 0 MONDO:0018571 "contractures-developmental delay-Pierre Robin syndrome" 0 3 0 0 0 0 @@ -11687,7 +11708,7 @@ MONDO:0000766 "corneal endothelial dystrophy" 1 3 0 0 0 1 MONDO:0007804 "Pallister-Hall syndrome" 1 10 0 0 0 0 MONDO:0020835 "methemoglobinemia, alpha type" 0 1 0 0 0 0 http://identifiers.org/hgnc/6715 "LTBP2" 0 0 0 0 0 0 -MONDO:0001454 "Blessig's cysts" 0 5 0 0 0 0 +MONDO:0001454 "Blessig's cysts" 0 4 0 0 0 0 MONDO:0016272 "transitional cell carcinoma of the corpus uteri" 1 2 0 0 0 1 UBERON:0001981 "blood vessel" 0 0 0 0 0 0 MONDO:0001374 "bladder sarcoma" 1 4 0 0 0 1 @@ -11708,19 +11729,18 @@ MONDO:0006680 "blue nevus" 1 7 0 0 0 0 MONDO:0100366 "occupational disorder" 1 0 0 0 0 1 GO:0007140 "male meiotic nuclear division" 1 0 0 0 0 1 MONDO:0015094 "subependymal nodular heterotopia" 0 7 0 0 0 0 -MONDO:0001971 "farmer's lung disease" 1 9 0 0 0 0 +MONDO:0001971 "farmer's lung disease" 1 8 0 0 0 0 HP:0008169 "Reduced factor VII activity" 1 4 0 0 0 0 MONDO:0008289 "brain small vessel disease 1 with or without ocular anomalies" 1 10 0 0 0 0 MONDO:0007666 "glaucoma-sleep apnea syndrome" 1 5 0 0 0 0 http://identifiers.org/hgnc/20342 "ZDHHC15" 0 0 0 0 0 0 MONDO:0020568 "cutaneous myiasis" 0 4 0 0 0 0 UBERON:0001245 "anus" 0 0 0 0 0 1 -MONDO:0100081 "sleep disorder" 1 1 0 0 0 1 +MONDO:0100081 "sleep disorder" 1 3 0 0 0 1 MONDO:0020103 "obsolete constitutional hemolytic anemia due to acanthocytosis" 0 2 0 0 0 0 UBERON:0005732 "paired limb/fin field" 0 0 0 0 0 1 UBERON:0010709 "pelvic complex" 0 0 0 0 0 1 MONDO:0030503 "cholestasis, progressive familial intrahepatic, 7, with or without hearing loss" 0 1 0 0 0 0 -MONDO:0017412 "2q31.1 microduplication syndrome" 0 3 0 0 0 1 UBERON:0006929 "glandular columnar epithelium" 0 0 0 0 0 1 CP:0000043 "cartwheel heterochromatin" 1 0 0 0 0 0 CHEBI:58945 "organophosphate oxoanion" 1 0 0 0 0 0 @@ -11733,7 +11753,6 @@ MONDO:0002880 "ovarian adenosarcoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/19954 "SLC25A22" 0 0 0 0 0 0 GO:0008037 "cell recognition" 1 0 0 0 0 0 MONDO:0010221 "CHIME syndrome" 1 7 0 0 0 0 -MONDO:0007645 "gastric sneezing" 0 3 0 0 0 0 FOODON:03420294 "fruit peel (anatomical part)"@en 1 0 0 0 0 1 CHEBI:24662 "hydroxy-amino acid" 1 0 0 0 0 0 GO:0046325 "negative regulation of glucose import" 1 0 0 0 0 1 @@ -11768,7 +11787,7 @@ MONDO:0013157 "muscular dystrophy-dystroglycanopathy (congenital with brain and MONDO:0013158 "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6" 1 6 0 0 0 0 UBERON:0012274 "columnar epithelium" 0 0 0 0 0 0 CHEBI:79389 "monovalent inorganic anion" 1 0 0 0 0 0 -MONDO:0002310 "anterior dislocation of lens" 0 5 0 0 0 0 +MONDO:0002310 "anterior dislocation of lens" 0 4 0 0 0 0 MONDO:0012154 "myopia 6" 1 4 0 0 0 1 MONDO:0016512 "Kabuki syndrome" 1 12 0 0 0 0 NCBITaxon:36362 "Polyomavirus sp." 0 1 0 0 0 0 @@ -11795,9 +11814,8 @@ http://identifiers.org/hgnc/1041 "BFSP2" 0 0 0 0 0 0 MONDO:0011107 "congenital hypotrichosis with juvenile macular dystrophy" 1 7 0 0 0 0 MONDO:0011219 "Fried's tooth and nail syndrome" 0 5 0 0 0 0 MONDO:0021179 "proteostasis deficiencies" 1 2 0 0 0 0 -MONDO:0001219 "serous conjunctivitis except viral" 0 5 0 0 0 0 +MONDO:0001219 "serous conjunctivitis except viral" 0 4 0 0 0 0 UBERON:0014464 "renal fat pad" 0 0 0 0 0 1 -MONDO:0020050 "autosomal trisomy" 0 6 0 0 0 0 CHR:9606-chr5p1 "5p1 (Human)" 0 0 0 0 0 0 GO:0006816 "calcium ion transport" 1 0 0 0 0 0 http://identifiers.org/hgnc/11065 "SLC7A7" 0 0 0 0 0 0 @@ -11823,7 +11841,7 @@ MONDO:0022263 "obsolete congenital hepatic fibrosis" 0 0 0 0 0 0 MONDO:0024359 "central sleep apnea due to periodic breathing" 0 4 0 0 0 0 MONDO:0019868 "mosaic trisomy 10" 1 6 0 0 0 1 MONDO:0001962 "abnormality of glucagon secretion" 0 4 0 0 0 0 -MONDO:0003805 "malignant pericardial mesothelioma" 1 7 0 0 0 1 +MONDO:0003805 "malignant pericardial mesothelioma" 1 6 0 0 0 1 UBERON:8410001 "small intestine venule" 0 0 0 0 0 1 MONDO:0034204 "syndromic congenital sodium diarrhea" 0 1 0 0 0 1 MONDO:0001399 "ureter leiomyoma" 1 3 0 0 0 1 @@ -11847,7 +11865,7 @@ NCBITaxon:2704647 "Metakinetoplastina" 0 1 0 0 0 0 CHR:9606-chr1q "1q (Human)" 0 0 0 0 0 0 MONDO:0007391 "coxa vara" 1 5 0 0 0 0 http://identifiers.org/hgnc/5542 "IGHMBP2" 0 0 0 0 0 0 -MONDO:0018089 "double outlet right ventricle" 1 10 0 0 0 0 +MONDO:0018089 "double outlet right ventricle" 1 9 0 0 0 0 MONDO:0015868 "obsolete rare breast tumor" 1 1 0 0 0 0 GO:0071482 "cellular response to light stimulus" 1 0 0 0 0 0 ENVO:09200014 "temperature of water" 1 0 0 0 0 1 @@ -11857,7 +11875,7 @@ MONDO:0017938 "obsolete X-linked cleft palate and ankyloglossia" 0 0 0 0 0 0 GO:0001821 "histamine secretion" 1 0 0 0 0 0 UBERON:0005451 "segment of manus" 0 0 0 0 0 1 MONDO:0018207 "2p13.2 microdeletion syndrome" 1 3 0 0 0 1 -MONDO:0009046 "Fraser syndrome" 1 9 0 0 0 0 +MONDO:0009046 "Fraser syndrome" 1 10 0 0 0 0 http://identifiers.org/hgnc/3344 "ENAM" 0 0 0 0 0 0 UBERON:0001616 "maxillary artery" 0 0 0 0 0 1 HP:0000668 "Hypodontia" 1 3 0 0 0 0 @@ -11892,11 +11910,11 @@ UBERON:0010312 "immature eye" 0 0 0 0 0 1 CL:0000568 "amine precursor uptake and decarboxylation cell" 1 2 0 0 0 0 MONDO:0007467 "DNA, low-repetitive sequences of" 0 1 0 0 0 0 MONDO:0009496 "Kniest-like dysplasia with pursed lips and ectopia lentis" 0 3 0 0 0 0 -MONDO:0004771 "Fuchs' heterochromic uveitis" 1 5 0 0 0 0 -MONDO:0013436 "retinitis pigmentosa 39" 1 5 0 0 0 0 +MONDO:0004771 "Fuchs' heterochromic uveitis" 1 4 0 0 0 0 +MONDO:0013436 "retinitis pigmentosa 39" 1 4 0 0 0 0 MONDO:0018463 "mild phosphoribosylpyrophosphate synthetase superactivity" 1 4 0 0 0 0 http://identifiers.org/hgnc/26182 "COLGALT1" 0 0 0 0 0 0 -MONDO:0008228 "pernicious anemia" 1 11 0 0 0 0 +MONDO:0008228 "pernicious anemia" 1 10 0 0 0 0 UBERON:0000168 "proximal-distal subdivision of colon" 0 0 0 0 0 1 MONDO:0017990 "catecholaminergic polymorphic ventricular tachycardia" 1 13 0 0 0 0 http://identifiers.org/hgnc/12372 "TSHB" 0 0 0 0 0 0 @@ -11912,7 +11930,7 @@ MONDO:0003905 "ovarian yolk sac tumor, glandular pattern" 1 3 0 0 0 0 MONDO:0006231 "gastrointestinal hamartoma" 1 3 0 0 0 1 GO:0002819 "regulation of adaptive immune response" 1 0 0 0 0 1 MONDO:0006466 "thyroid gland spindle cell tumor with thymus-like differentiation" 1 5 0 0 0 0 -MONDO:0002545 "spinal cord disorder" 1 8 0 0 0 1 +MONDO:0002545 "spinal cord disorder" 1 7 0 0 0 1 http://identifiers.org/hgnc/854 "ATP6V1B2" 0 0 0 0 0 0 UBERON:0000065 "respiratory tract" 0 0 0 0 0 0 MONDO:0008435 "Somatomedin, embryonic" 0 1 0 0 0 0 @@ -11953,7 +11971,7 @@ MONDO:0001229 "small intestine diverticulitis" 1 5 0 0 0 1 HP:0033354 "Abnormal urine metabolite level" 1 0 0 0 0 0 UBERON:0001338 "urethral gland" 0 0 0 0 0 1 MONDO:0024499 "vascular bone neoplasm" 1 2 0 0 0 1 -MONDO:0003799 "conjunctivitis" 1 10 0 0 0 1 +MONDO:0003799 "conjunctivitis" 1 8 0 0 0 1 MONDO:0024857 "immature extragonadal teratoma" 1 2 0 0 0 0 GO:0006164 "purine nucleotide biosynthetic process" 1 0 0 0 0 0 UBERON:0005893 "leg bone" 0 0 0 0 0 1 @@ -11961,12 +11979,13 @@ MONDO:0006432 "stromal predominant kidney Wilms tumor" 1 4 0 0 0 0 MONDO:0009714 "myosclerosis" 1 6 0 0 0 0 MONDO:0041366 "acute epiglottitis" 1 1 0 0 0 1 MONDO:0003176 "obsolete cervical adenoid cystic carcinoma" 0 0 0 0 0 0 -MONDO:0019671 "radial hemimelia" 1 5 0 0 0 0 -MONDO:0001853 "contact blepharoconjunctivitis" 0 5 0 0 0 0 +MONDO:0019671 "radial hemimelia" 1 4 0 0 0 0 +MONDO:0001853 "contact blepharoconjunctivitis" 0 4 0 0 0 0 UBERON:0035037 "jaw epithelium" 0 0 0 0 0 1 +MONDO:0010994 "obsolete micromelic dwarfism, Fryns type" 0 7 0 0 0 0 GO:0007589 "body fluid secretion" 1 0 0 0 0 0 -MONDO:0015265 "bronchiolitis obliterans with obstructive pulmonary disease" 1 11 0 0 0 0 -MONDO:0004691 "autosomal dominant polycystic kidney disease" 1 12 0 0 0 1 +MONDO:0015265 "bronchiolitis obliterans with obstructive pulmonary disease" 1 10 0 0 0 0 +MONDO:0004691 "autosomal dominant polycystic kidney disease" 1 11 0 0 0 1 MONDO:0015901 "obsolete rare inherited hyperlipidemia" 0 1 0 0 0 0 MONDO:0021272 "inherited orthostatic hypotension" 0 1 0 0 0 0 MONDO:0012700 "renal tubular acidosis, distal, 4, with hemolytic anemia" 1 5 0 0 0 0 @@ -11997,8 +12016,8 @@ GO:0045987 "positive regulation of smooth muscle contraction" 1 0 0 0 0 1 UBERON:0003724 "musculocutaneous nerve" 0 0 0 0 0 0 MONDO:0019856 "obsolete primary congenital hypothyroidism without thyroid developmental anomaly" 1 3 0 0 0 0 ENVO:01000323 "atmospheric boundary layer" 1 0 0 0 0 1 -MONDO:0003061 "benign muscle neoplasm" 1 8 0 0 0 1 -MONDO:0005975 "suppurative otitis media" 1 11 0 0 0 0 +MONDO:0003061 "benign muscle neoplasm" 1 7 0 0 0 1 +MONDO:0005975 "suppurative otitis media" 1 8 0 0 0 0 GO:0044424 "obsolete intracellular part" 1 0 0 0 0 0 UBERON:0000333 "intestinal gland" 0 0 0 0 0 1 MONDO:0008605 "triphalangeal thumb, Nonopposable" 0 4 0 0 0 0 @@ -12051,7 +12070,7 @@ GO:0046137 "negative regulation of vitamin metabolic process" 1 0 0 0 0 1 MONDO:0015586 "benign familial mesial temporal lobe epilepsy" 1 5 0 0 0 0 MONDO:0017766 "disorder of manganese transport" 0 3 0 0 0 0 PATO:0002006 "2-D shape" 1 0 0 0 0 0 -MONDO:0007281 "cataract 4 multiple types" 1 8 0 0 0 1 +MONDO:0007281 "cataract 4 multiple types" 1 7 0 0 0 1 http://identifiers.org/hgnc/17233 "ELMO2" 0 0 0 0 0 0 CHR:9606-chr11p13 "11p13 (Human)" 0 0 0 0 0 0 MONDO:0012672 "cholelithiasis" 1 11 0 0 0 0 @@ -12069,13 +12088,13 @@ MONDO:0013970 "branched-chain keto acid dehydrogenase kinase deficiency" 1 5 0 0 GO:0045087 "innate immune response" 1 0 0 0 0 0 MONDO:0009775 "Oguchi disease-1" 1 3 0 0 0 1 UBERON:0010891 "pectoral complex muscle" 0 0 0 0 0 1 -MONDO:0019881 "distal trisomy 6q" 1 4 0 0 0 0 +MONDO:0019881 "distal trisomy 6q" 1 3 0 0 0 0 MONDO:0009702 "myopathy due to malate-aspartate shuttle defect" 0 3 0 0 0 0 CHR:9606-chr17p13.1 "17p13.1 (Human)" 0 0 0 0 0 0 PATO:0002299 "tubular" 1 0 0 0 0 0 SO:0001784 "complex_structural_alteration" 1 0 0 0 0 0 MONDO:0043988 "zoster sine herpete" 1 4 0 0 0 0 -MONDO:0013979 "primary ciliary dyskinesia 19" 1 4 0 0 0 1 +MONDO:0013979 "primary ciliary dyskinesia 19" 1 3 0 0 0 1 NCBITaxon:451868 "Pleosporomycetidae" 0 2 0 0 0 0 MONDO:0016686 "diffuse astrocytoma" 1 6 0 0 0 0 MONDO:0000122 "obsolete facial paresis, hereditary congenital" 0 0 0 0 0 0 @@ -12083,7 +12102,7 @@ MONDO:0000543 "ovarian melanoma" 1 1 0 0 0 1 CL:0001025 "Kit-positive, Sca1-positive common lymphoid progenitor" 1 0 0 0 0 0 UBERON:0003828 "abdominal segment bone" 0 0 0 0 0 1 MONDO:0014702 "autosomal recessive complex spastic paraplegia type 9B" 1 5 0 0 0 1 -MONDO:0012380 "autosomal dominant nonsyndromic hearing loss 53" 1 6 0 0 0 0 +MONDO:0012380 "autosomal dominant nonsyndromic hearing loss 53" 1 5 0 0 0 0 MONDO:0015416 "Tessier number 5 facial cleft" 0 2 0 0 0 0 MONDO:0002699 "obsolete pancreatic ductal carcinoma" 0 0 0 0 0 0 MONDO:0010300 "intellectual disability, X-linked 53" 0 4 0 0 0 0 @@ -12123,21 +12142,21 @@ MONDO:0000310 "Alkhurma hemorrhagic fever" 1 1 0 0 0 1 MONDO:0021337 "tonsil carcinoma" 1 3 0 0 0 1 MONDO:0008576 "toe, fifth, number of phalanges 1N" 0 1 0 0 0 0 GO:0014821 "phasic smooth muscle contraction" 1 0 0 0 0 0 -MONDO:0008770 "amelogenesis imperfecta type 1C" 0 6 0 0 0 0 +MONDO:0008770 "amelogenesis imperfecta type 1C" 0 5 0 0 0 0 MONDO:0001018 "obsolete lymphoblastic leukemia" 0 0 0 0 0 0 -MONDO:0008269 "polydactyly of a biphalangeal thumb" 1 6 0 0 0 0 +MONDO:0008269 "polydactyly of a biphalangeal thumb" 1 5 0 0 0 0 UBERON:0008433 "lumbar vertebral arch" 0 0 0 0 0 1 UBERON:0004446 "epiphysis of phalanx" 0 0 0 0 0 1 MONDO:0014159 "autosomal recessive spinocerebellar ataxia 14" 1 6 0 0 0 1 MONDO:0017495 "obsolete congenital absence of upper arm and forearm with hand present, bilateral" 0 3 0 0 0 0 -MONDO:0001854 "lacrimal apparatus disorder" 1 10 0 0 0 1 +MONDO:0001854 "lacrimal apparatus disorder" 1 9 0 0 0 1 UBERON:0002481 "bone tissue" 0 0 0 0 0 0 MONDO:0015556 "nodular urticaria pigmentosa" 0 2 0 0 0 0 MONDO:0013137 "choroidal dystrophy, central areolar 2" 1 4 0 0 0 1 UBERON:0005181 "thoracic segment organ" 0 0 0 0 0 1 GO:0002830 "positive regulation of type 2 immune response" 1 0 0 0 0 1 MONDO:0015391 "nasopharyngeal teratoma" 1 3 0 0 0 1 -MONDO:0010948 "cataract 10 multiple types" 1 8 0 0 0 1 +MONDO:0010948 "cataract 10 multiple types" 1 7 0 0 0 1 MONDO:0005179 "ovarian adenoma benign" 1 1 0 0 0 1 MONDO:0014862 "cerebral palsy, spastic quadriplegic, 3" 1 2 0 0 0 1 GO:0048699 "generation of neurons" 1 0 0 0 0 0 @@ -12147,12 +12166,12 @@ MONDO:0012402 "opioid dependence, susceptibility to, 1" 0 1 0 0 0 0 MONDO:0024677 "pancreatic insulinoma" 1 9 0 0 0 0 HP:0031258 "Delirium" 1 0 0 0 0 0 MONDO:0018761 "SMARCA4-deficient sarcoma of thorax" 0 3 0 0 0 0 -MONDO:0004615 "upper gum cancer" 1 5 0 0 0 1 +MONDO:0004615 "upper gum cancer" 1 4 0 0 0 1 MONDO:0007756 "hyperkeratosis lenticularis perstans" 0 8 0 0 0 0 GO:1900387 "obsolete negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter" 1 0 0 0 0 0 MONDO:0003985 "chest wall lymphoma" 1 6 0 0 0 1 MONDO:0024381 "circadian rhythm sleep disorder, jet lag type" 1 2 0 0 0 0 -MONDO:0002909 "hyperglycemia" 1 7 0 0 0 1 +MONDO:0002909 "hyperglycemia" 1 6 0 0 0 1 MONDO:0009664 "mulibrey nanism" 1 11 0 0 0 0 http://identifiers.org/hgnc/9449 "PRNP" 0 0 0 0 0 0 GO:1903725 "regulation of phospholipid metabolic process" 1 0 0 0 0 1 @@ -12164,7 +12183,7 @@ MONDO:0009227 "myofibromatosis, infantile, 1" 1 5 0 0 0 1 MONDO:0009367 "McKusick-Kaufman syndrome" 1 10 0 0 0 0 CL:0002106 "IgD-positive CD38-positive IgG memory B cell" 1 0 0 0 0 1 GO:0044108 "cellular alcohol biosynthetic process" 1 0 0 0 0 0 -MONDO:0001045 "intestinal atresia" 1 5 0 0 0 0 +MONDO:0001045 "intestinal atresia" 1 4 0 0 0 0 UBERON:8300003 "right hindlimb" 0 0 0 0 0 1 MONDO:0000216 "obsolete congenital bilateral aplasia of vas deferens" 0 0 0 0 0 0 NCBITaxon:11234 "Measles morbillivirus" 0 1 0 0 0 0 @@ -12172,16 +12191,16 @@ MONDO:0033123 "exudative vitreoretinopathy 7" 0 4 0 0 0 0 CHEBI:76731 "EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitor" 1 0 0 0 0 0 MONDO:8000018 "benign paroxysmal positional vertigo" 1 6 0 0 0 0 CL:0002076 "endo-epithelial cell" 1 1 0 0 0 0 -MONDO:0100030 "adolescent/adult-onset epilepsy syndrome" 1 1 0 0 0 0 +MONDO:0100030 "adolescent/adult-onset epilepsy syndrome" 1 0 0 0 0 0 MONDO:0029137 "hearing loss, autosomal dominant 74" 0 1 0 0 0 0 MONDO:0019511 "autosomal dominant medullary cystic kidney disease with hyperuricemia" 1 4 0 0 0 0 MONDO:0004920 "hydrocele" 0 4 0 0 0 0 MONDO:0008142 "Thiemann disease, familial form" 1 8 0 0 0 0 -MONDO:0007648 "hereditary diffuse gastric adenocarcinoma" 1 9 0 0 0 1 +MONDO:0007648 "hereditary diffuse gastric adenocarcinoma" 1 8 0 0 0 1 MONDO:0006256 "invasive breast carcinoma" 1 5 0 0 0 1 UBERON:0006127 "funiculus of spinal cord" 0 0 0 0 0 1 UBERON:0001591 "thymic vein" 0 0 0 0 0 1 -MONDO:0017764 "disorder of zinc metabolism" 0 5 0 0 0 0 +MONDO:0017764 "disorder of zinc metabolism" 0 4 0 0 0 0 GO:0032147 "activation of protein kinase activity" 1 0 0 0 0 0 HP:0000953 "Hyperpigmentation of the skin" 1 4 0 0 0 0 MONDO:0019002 "Lhermitte-Duclos disease" 1 7 0 0 0 0 @@ -12202,7 +12221,6 @@ MONDO:0017758 "disorder of vitamin and non-protein cofactor absorption and trans CHEBI:26605 "saponin" 1 0 0 0 0 0 NCBITaxon:59140 "Myzomyia" 0 1 0 0 0 0 MONDO:0005605 "transitional cell papilloma" 1 5 0 0 0 1 -MONDO:0008405 "scapula, contour of vertebral border of" 0 1 0 0 0 0 MONDO:0009968 "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss" 0 12 0 0 0 0 UBERON:0003422 "mesenchyme of umbilical cord" 0 0 0 0 0 1 MONDO:0032913 "congenital heart defects, multiple types, 7" 0 1 0 0 0 0 @@ -12219,7 +12237,7 @@ MONDO:0010764 "hearing loss, Y-linked 1" 0 3 0 0 0 0 http://identifiers.org/hgnc/2244 "COQ7" 0 0 0 0 0 0 UBERON:0036362 "wall of anal canal" 0 0 0 0 0 1 MONDO:0019297 "lymphedema" 1 9 0 0 0 0 -MONDO:0001670 "tooth resorption" 1 6 0 0 0 0 +MONDO:0001670 "tooth resorption" 1 5 0 0 0 0 NCIT:C17214 "Disease Transmission" 0 0 0 0 0 0 NCBITaxon:7952 "Cypriniformes" 0 1 0 0 0 0 CL:0000228 "multinucleate cell" 1 2 0 0 0 1 @@ -12239,10 +12257,10 @@ GO:0001932 "regulation of protein phosphorylation" 1 0 0 0 0 1 FOODON:03460130 "physical/chemical modification process"@en 1 1 0 0 0 0 MONDO:0007010 "obsolete uveitis" 0 0 0 0 0 0 GO:1990580 "regulation of cytoplasmic translational termination" 1 0 0 0 0 1 -MONDO:0006931 "pulmonary coin lesion" 1 5 0 0 0 0 +MONDO:0006931 "pulmonary coin lesion" 1 4 0 0 0 0 http://identifiers.org/hgnc/8002 "NRL" 0 0 0 0 0 0 NCBITaxon:204429 "Chlamydiia" 0 2 0 0 0 0 -MONDO:0010911 "prolactin-producing pituitary gland adenoma" 1 14 0 0 0 0 +MONDO:0010911 "prolactin-producing pituitary gland adenoma" 1 12 0 0 0 0 GO:0005794 "Golgi apparatus" 1 0 0 0 0 0 MONDO:0010392 "glycogen storage disease due to phosphoglycerate kinase 1 deficiency" 1 7 0 0 0 1 MONDO:0010681 "myelolymphatic insufficiency" 0 2 0 0 0 0 @@ -12254,7 +12272,7 @@ MONDO:0007541 "endometriosis, susceptibility to, 1" 0 1 0 0 0 0 MONDO:0009059 "cysteine Peptiduria" 0 3 0 0 0 0 MONDO:0010210 "xeroderma pigmentosum group A" 1 9 0 0 0 1 CHEBI:23117 "chlorine molecular entity" 1 0 0 0 0 0 -MONDO:0019872 "distal trisomy 3p" 1 3 0 0 0 0 +MONDO:0019872 "distal trisomy 3p" 1 2 0 0 0 0 NCBITaxon:5061 "Aspergillus niger" 0 2 0 0 0 0 MONDO:0044624 "pediatric collagenous gastritis" 0 1 0 0 0 0 GO:0043030 "regulation of macrophage activation" 1 0 0 0 0 1 @@ -12282,16 +12300,15 @@ MONDO:0000080 "obsolete Oto-palato-digital syndrome" 0 0 0 0 0 0 MONDO:0012483 "cone-rod dystrophy 11" 1 5 0 0 0 1 FOODON:03420228 "extract, concentrate or isolate of plant or animal"@en 1 1 0 0 0 0 NCBITaxon:2509494 "Merbecovirus" 0 1 0 0 0 0 -MONDO:0019468 "T-cell prolymphocytic leukemia" 1 14 0 0 0 0 +MONDO:0019468 "T-cell prolymphocytic leukemia" 1 13 0 0 0 0 MONDO:0004370 "sphenocavernous meningioma" 1 3 0 0 0 0 MONDO:0033187 "combined oxidative phosphorylation defect type 29" 0 1 0 0 0 0 http://identifiers.org/hgnc/2770 "DES" 0 0 0 0 0 0 -MONDO:0013538 "alpha-2-macroglobulin deficiency" 0 3 0 0 0 0 GO:0001990 "regulation of systemic arterial blood pressure by hormone" 1 0 0 0 0 0 UBERON:0004378 "proximal metaphysis" 0 0 0 0 0 1 http://identifiers.org/hgnc/9403 "PRKCH" 0 0 0 0 0 0 http://identifiers.org/hgnc/29502 "PJVK" 0 0 0 0 0 0 -MONDO:0011748 "Usher syndrome type 1G" 1 7 0 0 0 1 +MONDO:0011748 "Usher syndrome type 1G" 1 6 0 0 0 1 MONDO:0002346 "obsolete malignant histiocytic disease" 0 0 0 0 0 0 MONDO:0024652 "embryonic cyst of fallopian tube" 0 2 0 0 0 0 MONDO:0017073 "cervical spina bifida cystica" 0 1 0 0 0 0 @@ -12300,7 +12317,7 @@ MONDO:0019023 "cutaneous mastocytosis" 1 13 0 0 0 0 MONDO:0019045 "obsolete rare sleep disorder" 1 1 0 0 0 0 MONDO:0003791 "prostatic urethral cancer" 1 3 0 0 0 1 MONDO:0002214 "brain germinoma" 1 3 0 0 0 1 -MONDO:0015496 "macroglossia" 1 7 0 0 0 0 +MONDO:0015496 "macroglossia" 1 6 0 0 0 0 MONDO:0023194 "frints de Smet Fabry Fryns syndrome" 0 2 0 0 0 0 GO:0000050 "urea cycle" 1 0 0 0 0 0 HP:0000458 "Anosmia" 1 3 0 0 0 0 @@ -12316,12 +12333,12 @@ UBERON:0002422 "fourth ventricle" 0 0 0 0 0 1 UBERON:0001516 "abdominal aorta" 0 0 0 0 0 0 MONDO:0044785 "desmoplastic melanoma" 1 2 0 0 0 0 MONDO:0044351 "Schistosoma intercalatum infectious disease" 1 4 0 0 0 1 -MONDO:0013641 "Warburg micro syndrome 2" 1 5 0 0 0 1 +MONDO:0013641 "Warburg micro syndrome 2" 1 4 0 0 0 1 MONDO:0009507 "Lambert syndrome" 1 7 0 0 0 0 ENVO:01000640 "planetary mantle"@en 1 0 0 0 0 0 UBERON:0004262 "upper leg skin" 0 0 0 0 0 1 MONDO:0014963 "Shashi-Pena syndrome" 0 2 0 0 0 0 -MONDO:0006898 "periarthritis" 1 7 0 0 0 0 +MONDO:0006898 "periarthritis" 1 6 0 0 0 0 GO:0031943 "regulation of glucocorticoid metabolic process" 1 0 0 0 0 1 UBERON:0004489 "musculature of manus" 0 0 0 0 0 1 CL:0000454 "epinephrine secreting cell" 1 0 0 0 0 1 @@ -12341,7 +12358,7 @@ MONDO:0000190 "ventricular fibrillation" 1 7 0 0 0 0 UBERON:0010294 "scleral endothelium" 0 0 0 0 0 1 GO:0098960 "postsynaptic neurotransmitter receptor activity" 1 0 0 0 0 1 MONDO:0016752 "benign peripheral nerve sheath tumor" 0 2 0 0 0 0 -MONDO:0014469 "autosomal recessive nonsyndromic hearing loss 103" 1 4 0 0 0 1 +MONDO:0014469 "autosomal recessive nonsyndromic hearing loss 103" 1 3 0 0 0 1 http://identifiers.org/hgnc/23068 "TRAPPC2" 0 0 0 0 0 0 PATO:0001412 "unstructured" 1 0 0 0 0 0 MONDO:0008278 "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome" 0 5 0 0 0 0 @@ -12356,7 +12373,7 @@ UBERON:0009906 "root of optic nerve" 0 0 0 0 0 1 ENVO:01001787 "aquatic ecosystem"@en 0 0 0 0 0 1 MONDO:0024302 "internal hirudiniasis" 1 3 0 0 0 1 MONDO:0015415 "oblique facial cleft" 0 2 0 0 0 0 -MONDO:0011272 "retinitis pigmentosa 25" 1 6 0 0 0 1 +MONDO:0011272 "retinitis pigmentosa 25" 1 5 0 0 0 1 NCBITaxon:52651 "Chabertiidae" 0 1 0 0 0 0 MONDO:0017972 "classic congenital lipoid adrenal hyperplasia due to STAR deficency" 0 2 0 0 0 0 MONDO:0018770 "Jeune syndrome" 1 19 0 0 0 0 @@ -12367,12 +12384,12 @@ UBERON:0004263 "upper arm skin" 0 0 0 0 0 1 HsapDv:0000116 "22-year-old human stage" 1 0 0 0 0 0 http://identifiers.org/hgnc/2025 "CLCN7" 0 0 0 0 0 0 http://identifiers.org/hgnc/12632 "USP9X" 0 0 0 0 0 0 -MONDO:0017860 "methanol poisoning" 1 3 0 0 0 1 +MONDO:0017860 "methanol poisoning" 1 2 0 0 0 1 CHR:9606-chr12p1 "12p1 (Human)" 0 0 0 0 0 0 MONDO:0005486 "tooth agenesis" 1 19 0 0 0 0 MONDO:0024654 "skull disorder" 1 3 0 0 0 1 MONDO:0007628 "foveal hypoplasia 1" 1 4 0 0 0 1 -MONDO:0003956 "Baastrup syndrome" 0 6 0 0 0 0 +MONDO:0003956 "Baastrup syndrome" 0 4 0 0 0 0 MONDO:0012931 "focal segmental glomerulosclerosis 4, susceptibility to" 1 1 0 0 0 1 NCBITaxon:3750 "Malus domestica" 0 1 0 0 0 0 MONDO:0008241 "phosphoglycoprotein 1" 0 1 0 0 0 0 @@ -12380,7 +12397,7 @@ MONDO:0009457 "immunoglobulin d level in plasma, low" 0 1 0 0 0 0 http://identifiers.org/hgnc/12765 "FOXN1" 0 0 0 0 0 0 http://identifiers.org/hgnc/19747 "EVC2" 0 0 0 0 0 0 MONDO:0000904 "complex cortical dysplasia with other brain malformations" 0 3 0 0 0 0 -MONDO:0004184 "urethral disorder" 1 6 0 0 0 1 +MONDO:0004184 "urethral disorder" 1 5 0 0 0 1 MONDO:0012949 "aneurysm, intracranial berry, 9" 0 3 0 0 0 0 MONDO:0013501 "frontotemporal dementia and/or amyotrophic lateral sclerosis 6" 1 5 0 0 0 1 http://identifiers.org/hgnc/634 "AQP2" 0 0 0 0 0 0 @@ -12458,7 +12475,7 @@ UBERON:0009618 "trunk paraxial mesoderm" 0 0 0 0 0 0 CHEBI:3992 "cyclic ketone" 0 0 0 0 0 0 MONDO:0009795 "orofaciodigital syndrome IX" 1 8 0 0 0 0 GO:0001843 "neural tube closure" 1 0 0 0 0 0 -MONDO:0001904 "polyneuropathy due to drug" 0 5 0 0 0 0 +MONDO:0001904 "polyneuropathy due to drug" 0 4 0 0 0 0 CL:0000576 "monocyte" 1 3 0 0 0 1 GO:0100036 "obsolete positive regulation of purine nucleotide biosynthetic process by transcription from RNA polymerase II promoter" 1 0 0 0 0 0 NCBITaxon:694009 "Severe acute respiratory syndrome-related coronavirus" 0 1 0 0 0 0 @@ -12473,7 +12490,7 @@ MONDO:0044680 "obsolete short rib-polydactyly syndrome type 5" 0 0 0 0 0 0 MONDO:0006111 "bladder flat intraepithelial lesion" 1 4 0 0 0 0 UBERON:0003353 "epithelium of hindgut" 0 0 0 0 0 1 GO:0031334 "positive regulation of protein-containing complex assembly" 1 0 0 0 0 1 -MONDO:0012574 "Potocki-Lupski syndrome" 1 8 0 0 0 0 +MONDO:0012574 "Potocki-Lupski syndrome" 1 7 0 0 0 0 http://identifiers.org/hgnc/4576 "GRID2" 0 0 0 0 0 0 UBERON:0002402 "pleural cavity" 0 0 0 0 0 1 http://identifiers.org/hgnc/21732 "ANTXR2" 0 0 0 0 0 0 @@ -12496,15 +12513,15 @@ GO:2001274 "obsolete negative regulation of glucose import in response to insuli MONDO:0034082 "obsolete necrobiosis lipoidica" 0 0 0 0 0 0 MONDO:0015660 "sporadic fetal brain disruption sequence" 1 4 0 0 0 0 MONDO:0000055 "obsolete major affective disorder" 0 0 0 0 0 0 -MONDO:0001103 "giardiasis" 1 6 0 0 0 1 +MONDO:0001103 "giardiasis" 1 5 0 0 0 1 GO:0005622 "intracellular anatomical structure" 1 0 0 0 0 0 MONDO:0000343 "Barmah forest virus disease" 1 1 0 0 0 1 UBERON:0010881 "limb cartilage element" 0 0 0 0 0 1 -MONDO:0006727 "diastolic heart failure" 1 10 0 0 0 0 +MONDO:0006727 "diastolic heart failure" 1 8 0 0 0 0 MONDO:0000219 "obsolete uncombable hair syndrome" 0 0 0 0 0 0 MONDO:0007730 "histiocytic dermatoarthritis" 0 3 0 0 0 0 MONDO:0002543 "adult oligodendroglioma" 1 4 0 0 0 1 -MONDO:0002118 "urinary system disorder" 1 6 0 0 0 1 +MONDO:0002118 "urinary system disorder" 1 7 0 0 0 1 http://identifiers.org/hgnc/638 "AQP5" 0 0 0 0 0 0 MONDO:0002315 "obsolete hereditary spastic paraplegia" 0 0 0 0 0 0 MONDO:0016274 "obsolete rare cancer of cervix uteri" 1 2 0 0 0 0 @@ -12512,7 +12529,7 @@ MONDO:0016061 "immunodeficiency with factor H anomaly" 0 3 0 0 0 0 http://identifiers.org/hgnc/5102 "HOXA13" 0 0 0 0 0 0 MONDO:0013833 "keratoconus 7" 0 2 0 0 0 0 MONDO:0006556 "hand dermatosis" 1 4 0 0 0 0 -MONDO:0015712 "non-distal trisomy 10q" 1 2 0 0 0 0 +MONDO:0015712 "non-distal trisomy 10q" 1 1 0 0 0 0 GO:0019318 "hexose metabolic process" 1 0 0 0 0 0 MONDO:0012958 "multiple sclerosis, susceptibility to, 4" 0 1 0 0 0 0 MONDO:0020473 "dappled diaphyseal dysplasia" 0 5 0 0 0 0 @@ -12556,7 +12573,7 @@ MONDO:0010846 "exostoses, multiple, type III" 0 5 0 0 0 0 CL:0002170 "keratinized cell of the oral mucosa" 1 0 0 0 0 1 MONDO:0010988 "aplasia cutis-myopia syndrome" 1 6 0 0 0 0 MONDO:0002523 "cutaneous mucinosis" 1 5 0 0 0 0 -MONDO:0001294 "Horner syndrome" 1 7 0 0 0 0 +MONDO:0001294 "Horner syndrome" 1 6 0 0 0 0 MONDO:0020436 "atrial septal defect, sinus venosus type" 0 5 0 0 0 0 MONDO:0019173 "rabies" 1 13 0 0 0 0 MONDO:0004475 "thymus clear cell carcinoma" 1 3 0 0 0 0 @@ -12594,14 +12611,14 @@ MONDO:0011675 "Charcot-Marie-Tooth Disease, axonal, type 2GG" 1 8 0 0 0 0 MONDO:0017160 "behavioral variant of frontotemporal dementia" 1 7 0 0 0 0 CHEBI:22478 "amino alcohol" 1 0 0 0 0 0 NCBITaxon:513042 "Dioctophyme" 0 1 0 0 0 0 -MONDO:0000940 "trypanosomiasis" 1 8 0 0 0 1 +MONDO:0000940 "trypanosomiasis" 1 7 0 0 0 1 MONDO:0054731 "spermatogenic failure 27" 0 1 0 0 0 0 MONDO:0007175 "PR interval, variation 1N" 0 2 0 0 0 0 PO:0025477 "floral organ primordium" 1 1 0 0 0 0 MONDO:0012150 "attention deficit-hyperactivity disorder, susceptibility to, 2" 0 1 0 0 0 0 MONDO:0008372 "retinal aplasia" 0 4 0 0 0 0 MONDO:0011462 "pyogenic arthritis-pyoderma gangrenosum-acne syndrome" 1 8 0 0 0 0 -MONDO:0002255 "hypertrophic elongation of cervix" 0 5 0 0 0 0 +MONDO:0002255 "hypertrophic elongation of cervix" 0 4 0 0 0 0 MONDO:0012151 "attention deficit-hyperactivity disorder, susceptibility to, 3" 0 1 0 0 0 0 BFO:0000004 "independent continuant" 4 0 0 0 0 0 BFO:0000004 "independent continuant"@en 4 0 0 0 0 0 @@ -12641,13 +12658,13 @@ GO:0009712 "catechol-containing compound metabolic process" 1 0 0 0 0 0 BFO:0000024 "fiat object"@en 0 0 0 0 0 0 MONDO:0007108 "anal canal carcinoma" 1 5 0 0 0 1 CHR:9606-chrM "chromosome M (Human)" 0 0 0 0 0 0 -MONDO:0010631 "incontinentia pigmenti" 1 11 0 0 0 0 +MONDO:0010631 "incontinentia pigmenti" 1 10 0 0 0 0 MONDO:0013404 "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase" 1 8 0 0 0 0 MONDO:0003019 "potassium deficiency disease" 1 9 0 0 0 1 NCBITaxon:186626 "Otophysi" 0 1 0 0 0 0 NCBITaxon:2601530 "Eutetramitia" 0 1 0 0 0 0 MONDO:0009565 "microcephaly-glomerulonephritis-marfanoid habitus syndrome" 1 6 0 0 0 0 -MONDO:0020045 "obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect" 0 3 0 0 0 0 +MONDO:0020045 "obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect" 0 2 0 0 0 0 MONDO:0004683 "obsolete Evans' syndrome" 0 0 0 0 0 0 MONDO:0009161 "Ehlers-Danlos syndrome, dermatosparaxis type" 1 6 0 0 0 0 NCBITaxon:10508 "Adenoviridae" 0 1 0 0 0 0 @@ -12673,7 +12690,7 @@ http://identifiers.org/hgnc/17513 "HOMER2" 0 0 0 0 0 0 MONDO:0016788 "obsolete genetic hyperferritinemia without iron overload" 1 2 0 0 0 0 MONDO:0100041 "secondary trimethylaminuria" 1 0 0 0 0 0 MONDO:0006361 "penile fibromatosis" 1 2 0 0 0 1 -MONDO:0019458 "acute basophilic leukemia" 1 10 0 0 0 0 +MONDO:0019458 "acute basophilic leukemia" 1 9 0 0 0 0 UBERON:0008803 "skin of cheek" 0 0 0 0 0 1 http://identifiers.org/hgnc/574 "AP4M1" 0 0 0 0 0 0 MONDO:0012065 "obsolete Stevens-Johnson syndrome" 0 0 0 0 0 0 @@ -12726,7 +12743,7 @@ UBERON:0004217 "upper arm nerve" 0 0 0 0 0 1 http://identifiers.org/hgnc/6891 "MAPRE2" 0 0 0 0 0 0 MONDO:0019446 "localized lichen myxedematosus" 1 4 0 0 0 1 PCO:0000002 "ecological community"@en 1 0 0 0 0 0 -MONDO:0001134 "essential hypertension" 1 19 0 0 0 0 +MONDO:0001134 "essential hypertension" 1 18 0 0 0 0 UBERON:0015030 "pedal digit phalanx endochondral element" 0 0 0 0 0 2 UBERON:0005133 "metanephric glomerulus vasculature" 0 0 0 0 0 1 MONDO:0016067 "Crandall syndrome" 1 5 0 0 0 0 @@ -12789,10 +12806,10 @@ MONDO:0015945 "obsolete polymalformative genetic syndrome with increased risk of UBERON:0002428 "limb bone" 0 0 0 0 0 1 NCBITaxon:6933 "Acari" 0 1 0 0 0 0 http://identifiers.org/hgnc/26361 "HEPACAM" 0 0 0 0 0 0 -MONDO:0005259 "Asperger syndrome" 1 15 0 0 0 0 +MONDO:0005259 "Asperger syndrome" 1 14 0 0 0 0 MONDO:0025030 "digital dermatitis in cattle" 1 1 0 0 0 0 GO:0009612 "response to mechanical stimulus" 1 0 0 0 0 0 -MONDO:0018103 "Quinquaud's folliculitis decalvans" 1 6 0 0 0 0 +MONDO:0018103 "Quinquaud's folliculitis decalvans" 1 5 0 0 0 0 GO:0055080 "cation homeostasis" 1 0 0 0 0 0 http://identifiers.org/hgnc/11180 "SOD2" 0 0 0 0 0 0 HP:0011805 "Abnormal skeletal muscle morphology" 1 1 0 0 0 0 @@ -12801,7 +12818,7 @@ UBERON:0001835 "lower lip" 0 0 0 0 0 1 MONDO:0009276 "Bernard-Soulier syndrome" 1 11 0 0 0 0 MONDO:0024567 "hypotonia, infantile, with psychomotor retardation and characteristic facies 1" 1 3 0 0 0 1 MONDO:0001071 "intellectual disability" 1 9 0 0 0 0 -MONDO:0013940 "primary ciliary dyskinesia 18" 1 4 0 0 0 1 +MONDO:0013940 "primary ciliary dyskinesia 18" 1 3 0 0 0 1 MONDO:0017609 "renal tubular dysgenesis" 1 5 0 0 0 0 MONDO:0013335 "tuberculin skin test reactivity, absence of" 0 1 0 0 0 0 NCBITaxon:10310 "Human alphaherpesvirus 2" 0 1 0 0 0 0 @@ -12835,7 +12852,7 @@ MONDO:0012207 "umbilicus, familial flat" 0 4 0 0 0 0 MONDO:0016642 "meningioma" 1 16 0 0 0 0 UBERON:0003267 "tooth of upper jaw" 0 0 0 0 0 1 UBERON:0001628 "posterior communicating artery" 0 0 0 0 0 1 -MONDO:0001813 "squamous blepharitis" 0 7 0 0 0 0 +MONDO:0001813 "squamous blepharitis" 0 6 0 0 0 0 MONDO:0003196 "appendix carcinoma" 1 4 0 0 0 1 GO:0002888 "positive regulation of myeloid leukocyte mediated immunity" 1 0 0 0 0 1 MONDO:0003136 "anti-basement membrane glomerulonephritis" 1 3 0 0 0 0 @@ -12875,20 +12892,20 @@ ECTO:7000008 "exposure to clay" 1 0 0 0 0 0 MONDO:0012149 "attention deficit-hyperactivity disorder, susceptibility to, 1" 0 1 0 0 0 0 MONDO:0022666 "cassavism" 0 1 0 0 0 0 MONDO:0021258 "choroid neoplasm" 1 1 0 0 0 1 -MONDO:0010045 "obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome" 1 6 0 0 0 0 +MONDO:0010045 "obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome" 1 5 0 0 0 0 MONDO:0007976 "mesomelic dwarfism of hypoplastic tibia and radius type" 0 4 0 0 0 0 -MONDO:0017198 "osteopetrosis" 1 11 0 0 0 0 +MONDO:0017198 "osteopetrosis" 1 10 0 0 0 0 MONDO:0011559 "benign recurrent intrahepatic cholestasis type 2" 0 8 0 0 0 0 UBERON:0016426 "proximal interphalangeal joint of little finger" 0 0 0 0 0 1 MONDO:0011268 "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss" 0 5 0 0 0 0 -MONDO:0018229 "Stevens-Johnson syndrome" 1 18 0 0 0 0 +MONDO:0018229 "Stevens-Johnson syndrome" 1 17 0 0 0 0 MONDO:0012172 "mitochondrial trifunctional protein deficiency" 1 9 0 0 0 0 SO:0002343 "cytosolic_rRNA" 1 0 0 0 0 0 GO:0016462 "pyrophosphatase activity" 1 0 0 0 0 0 http://identifiers.org/hgnc/17284 "POT1" 0 0 0 0 0 0 MONDO:0003417 "internuclear ophthalmoplegia" 0 5 0 0 0 0 MONDO:0032664 "ciliary dyskinesia, primary, 40" 0 1 0 0 0 0 -MONDO:0006969 "sialadenitis" 1 11 0 0 0 1 +MONDO:0006969 "sialadenitis" 1 9 0 0 0 1 MONDO:0004679 "leukoplakia of vagina" 1 6 0 0 0 1 http://identifiers.org/hgnc/1067 "BMP1" 0 0 0 0 0 0 UBERON:0007119 "neck of femur" 0 0 0 0 0 1 @@ -12898,13 +12915,13 @@ MONDO:0010493 "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis" 1 2 0 MONDO:0018614 "undetermined early-onset epileptic encephalopathy" 1 18 0 0 0 0 UBERON:0001277 "intestinal epithelium" 0 0 0 0 0 1 MONDO:0000857 "obsolete Charcot-Marie-Tooth disease type 7" 1 1 0 0 0 0 -MONDO:0000958 "neuroretinitis" 1 4 0 0 0 1 +MONDO:0000958 "neuroretinitis" 1 3 0 0 0 1 MONDO:0004052 "rectal cloacogenic carcinoma" 1 3 0 0 0 0 UBERON:0006284 "early prosencephalic vesicle" 0 0 0 0 0 0 MONDO:0019386 "progressive rubella panencephalitis" 1 6 0 0 0 1 UBERON:0002264 "olfactory bulb" 0 0 0 0 0 0 UBERON:0000974 "neck" 0 0 0 0 0 0 -MONDO:0010945 "retinitis pigmentosa 17" 1 6 0 0 0 1 +MONDO:0010945 "retinitis pigmentosa 17" 1 5 0 0 0 1 MONDO:0022423 "obsolete alpha-2 deficient collagen disease" 0 0 0 0 0 0 CL:1001597 "seminal vesicle glandular cell" 1 1 0 0 0 1 MONDO:0019172 "aniridia" 1 11 0 0 0 0 @@ -12935,7 +12952,7 @@ MONDO:0016476 "Beckwith-Wiedemann syndrome due to CDKN1C mutation" 0 4 0 0 0 0 http://identifiers.org/hgnc/92 "ACADVL" 0 0 0 0 0 0 http://identifiers.org/hgnc/3748 "FLG" 0 0 0 0 0 0 CHEBI:50629 "cyclooxygenase 2 inhibitor" 1 0 0 0 0 0 -MONDO:0005280 "prostatitis" 1 13 0 0 0 1 +MONDO:0005280 "prostatitis" 1 11 0 0 0 1 NCBITaxon:40411 "Chrysosporium" 0 1 0 0 0 0 MONDO:0002111 "obsolete peritoneal mesothelioma" 0 0 0 0 0 0 MONDO:0016587 "arrhythmogenic right ventricular cardiomyopathy" 1 14 0 0 0 0 @@ -12943,7 +12960,7 @@ HP:0010932 "Abnormal circulating nucleobase concentration" 1 2 0 0 0 0 MONDO:0010111 "odontotrichomelic syndrome" 1 7 0 0 0 0 MONDO:0006109 "malignant biphasic mesothelioma" 1 5 0 0 0 0 NCBITaxon:11584 "Phlebovirus" 0 1 0 0 0 0 -MONDO:0015203 "coronary artery congenital malformation" 0 3 0 0 0 0 +MONDO:0015203 "coronary artery congenital malformation" 0 2 0 0 0 0 MONDO:0004147 "noninvasive malignant thymoma" 1 3 0 0 0 0 MONDO:0008139 "OSLAM syndrome" 1 7 0 0 0 0 MONDO:0041284 "primary motor cortex epilepsy" 1 2 0 0 0 1 @@ -12956,14 +12973,14 @@ MONDO:0008294 "acute intermittent porphyria" 1 9 0 0 0 0 MONDO:0002829 "bartholin gland carcinoma" 1 7 0 0 0 1 MONDO:0002938 "metatypical basal cell carcinoma" 1 4 0 0 0 0 MONDO:0004365 "necrotic uveal melanoma" 1 3 0 0 0 0 -MONDO:0012199 "posterior polymorphous corneal dystrophy 2" 1 6 0 0 0 1 +MONDO:0012199 "posterior polymorphous corneal dystrophy 2" 1 5 0 0 0 1 MONDO:0017488 "ulnar hemimelia, bilateral" 0 2 0 0 0 0 MONDO:0011597 "atopic dermatitis 3" 1 4 0 0 0 0 http://identifiers.org/hgnc/4387 "GNAI3" 0 0 0 0 0 0 UBERON:0005984 "subendocardium layer" 0 0 0 0 0 0 GO:0000959 "mitochondrial RNA metabolic process" 1 0 0 0 0 1 MONDO:0005724 "cryptococcosis" 1 18 0 0 0 1 -MONDO:0021147 "disorder of development or morphogenesis" 1 0 0 0 0 1 +MONDO:0021147 "disorder of development or morphogenesis" 1 1 0 0 0 1 MONDO:0011670 "Ehlers-Danlos syndrome due to tenascin-X deficiency" 0 6 0 0 0 0 GO:0045830 "positive regulation of isotype switching" 1 0 0 0 0 1 MONDO:0030088 "diabetes mellitus, permanent neonatal 3" 0 1 0 0 0 0 @@ -12992,7 +13009,7 @@ MONDO:0007069 "obsolete Adie syndrome" 0 0 0 0 0 0 ECTO:0001591 "exposure to occupation" 1 0 0 0 0 1 MONDO:0009414 "glycogen storage disorder due to hepatic glycogen synthase deficiency" 1 9 0 0 0 0 NCBITaxon:149546 "Histoplasma capsulatum var. duboisii" 0 1 0 0 0 0 -MONDO:0001021 "ametropic amblyopia" 0 5 0 0 0 0 +MONDO:0001021 "ametropic amblyopia" 0 4 0 0 0 0 UBERON:0002413 "cervical vertebra" 0 0 0 0 0 1 http://identifiers.org/hgnc/12633 "USP9Y" 0 0 0 0 0 0 MONDO:0017296 "glycerol kinase deficiency, adult form" 1 3 0 0 0 0 @@ -13000,7 +13017,7 @@ MONDO:0014200 "aldosterone-producing adenoma with seizures and neurological abno NCBITaxon:118969 "Legionellales" 0 2 0 0 0 0 http://identifiers.org/hgnc/7737 "NEFH" 0 0 0 0 0 0 MONDO:0010618 "familial isolated hypoparathyroidism due to agenesis of parathyroid gland" 1 8 0 0 0 0 -MONDO:0003569 "cranial nerve neuropathy" 1 7 0 0 0 1 +MONDO:0003569 "cranial nerve neuropathy" 1 6 0 0 0 1 GO:0051937 "catecholamine transport" 1 0 0 0 0 0 HP:0011772 "Abnormal thyroid morphology" 1 1 0 0 0 0 PATO:0001873 "cylindrical" 1 0 0 0 0 0 @@ -13010,7 +13027,7 @@ MONDO:0011598 "atopic dermatitis 4" 1 4 0 0 0 0 MONDO:0015532 "generalized eruptive histiocytosis" 0 4 0 0 0 0 MONDO:0011596 "atopic dermatitis 2" 1 4 0 0 0 1 FOODON:03420236 "protein extract, concentrate or isolate"@en 1 0 0 0 0 0 -MONDO:0013269 "autosomal recessive nonsyndromic hearing loss 91" 1 4 0 0 0 1 +MONDO:0013269 "autosomal recessive nonsyndromic hearing loss 91" 1 3 0 0 0 1 MONDO:0003518 "mediastinum teratoma" 1 3 0 0 0 1 MONDO:0021289 "carcinoma in situ of cecum" 1 3 0 0 0 1 MONDO:0014169 "dyschromatosis universalis hereditaria 3" 1 3 0 0 0 1 @@ -13030,13 +13047,13 @@ MONDO:0019256 "sterol metabolism disorder" 1 2 0 0 0 1 UBERON:0009854 "digestive tract diverticulum" 0 0 0 0 0 1 MONDO:0006396 "rectal villous adenoma" 1 4 0 0 0 1 GO:0008348 "negative regulation of antimicrobial humoral response" 1 0 0 0 0 1 -MONDO:0013141 "autosomal dominant macrothrombocytopenia TUBB1-related" 1 6 0 0 0 1 +MONDO:0013141 "autosomal dominant macrothrombocytopenia TUBB1-related" 1 5 0 0 0 1 MONDO:0001925 "retinal dystrophy in systemic or cerebroretinal lipidoses" 0 2 0 0 0 0 UBERON:0005985 "coronary vessel" 0 0 0 0 0 1 PATO:0002097 "neoplastic, malignant" 1 0 0 0 0 0 MONDO:0000856 "obsolete Charcot-Marie-Tooth disease type 6" 0 0 0 0 0 0 GO:0045604 "regulation of epidermal cell differentiation" 1 0 0 0 0 1 -MONDO:0008007 "tooth ankylosis" 1 11 0 0 0 1 +MONDO:0008007 "tooth ankylosis" 1 10 0 0 0 1 MONDO:0016856 "Mowat-Wilson syndrome due to a ZEB2 point mutation" 0 3 0 0 0 0 MONDO:0000905 "obsolete cortisone reductase deficiency" 0 0 0 0 0 0 MONDO:0014959 "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant" 0 3 0 0 0 0 @@ -13064,11 +13081,10 @@ MONDO:0012564 "Polyosteolysis-hyperostosis syndrome" 0 4 0 0 0 0 MONDO:0008590 "tremor, hereditary essential, 1" 1 5 0 0 0 1 UBERON:0013501 "cloacal sphincter" 0 0 0 0 0 1 NCBITaxon:1717 "Corynebacterium diphtheriae" 0 2 0 0 0 0 -MONDO:0014253 "autoimmune lymphoproliferative syndrome type 3" 1 7 0 0 0 1 UBERON:0001621 "coronary artery" 0 0 0 0 0 0 MONDO:0015572 "obsolete cerebral malformation due to abnormal neuronal migration" 0 2 0 0 0 0 GO:0002695 "negative regulation of leukocyte activation" 1 0 0 0 0 1 -MONDO:0017720 "GM2 gangliosidosis" 1 9 0 0 0 0 +MONDO:0017720 "GM2 gangliosidosis" 1 8 0 0 0 0 http://identifiers.org/hgnc/28249 "PHYKPL" 0 0 0 0 0 0 MONDO:0001611 "phlegmonous dacryocystitis" 0 5 0 0 0 0 NCBITaxon:583 "Proteus " 0 2 0 0 0 0 @@ -13083,7 +13099,7 @@ MONDO:0007537 "lateral meningocele syndrome" 0 7 0 0 0 0 GO:0045983 "positive regulation of purine nucleobase metabolic process" 1 0 0 0 0 1 UBERON:0005217 "midbrain subarachnoid space" 0 0 0 0 0 1 MONDO:0024655 "rheumatic pericarditis" 0 2 0 0 0 1 -MONDO:0001912 "acute frontal sinusitis" 1 6 0 0 0 1 +MONDO:0001912 "acute frontal sinusitis" 1 5 0 0 0 1 MONDO:0022546 "obsolete basal cell nevus anodontia abnormal bone mineralization" 0 0 0 0 0 0 ENVO:01001135 "desert planet"@en 1 0 0 0 0 1 http://identifiers.org/hgnc/403 "ALDH3A2" 0 0 0 0 0 0 @@ -13096,7 +13112,7 @@ MONDO:0014057 "maple syrup urine disease, mild variant" 0 4 0 0 0 0 MONDO:0011174 "hyperzincemia with functional zinc depletion" 0 3 0 0 0 0 MONDO:0017216 "calciphylaxis cutis" 1 4 0 0 0 0 NCIT:C16203 "Clinical or Research Activity" 0 0 0 0 0 0 -MONDO:0014740 "autosomal dominant nonsyndromic hearing loss 68" 1 4 0 0 0 1 +MONDO:0014740 "autosomal dominant nonsyndromic hearing loss 68" 1 3 0 0 0 1 HP:0040088 "Abnormal lymphocyte count" 1 2 0 0 0 0 MONDO:0007728 "acne inversa, familial, 1" 1 2 0 0 0 1 MONDO:0011206 "ventriculomegaly with defects of the radius and kidney" 0 3 0 0 0 0 @@ -13112,7 +13128,7 @@ MONDO:0010538 "Mononen-Karnes-Senac syndrome" 1 8 0 0 0 0 MONDO:0015367 "Charlie M syndrome" 1 7 0 0 0 0 MONDO:0019097 "obsolete hemorrhagic disorder due to a constitutional platelet anomaly" 1 2 0 0 0 0 MONDO:0004546 "lumbar plexus neoplasm" 1 3 0 0 0 1 -MONDO:0016075 "filariasis" 1 16 0 0 0 0 +MONDO:0016075 "filariasis" 1 11 0 0 0 0 MONDO:0012343 "aortic aneurysm, familial abdominal, 2" 0 4 0 0 0 0 GO:0002351 "serotonin production involved in inflammatory response" 1 0 0 0 0 0 PATO:0002096 "neoplastic, non-malignant" 1 0 0 0 0 0 @@ -13134,6 +13150,7 @@ NCBITaxon:1891714 "Betapolyomavirus" 0 1 0 0 0 0 MONDO:0014228 "corneal dystrophy, Fuchs endothelial, 8" 1 3 0 0 0 1 MONDO:0004841 "kidney hypertrophy" 1 6 0 0 0 0 MONDO:0014133 "developmental and epileptic encephalopathy, 16" 0 5 0 0 0 0 +MONDO:0017002 "obsolete polysomy of X chromosome" 0 1 0 0 0 0 MONDO:0018656 "tremor-ataxia-central hypomyelination syndrome" 0 4 0 0 0 0 MONDO:0002101 "facial nerve neoplasm" 1 5 0 0 0 1 MONDO:0020752 "myoclonic epilepsy, juvenile, susceptibility to, 1" 0 0 0 0 0 0 @@ -13157,7 +13174,7 @@ MONDO:0002841 "obsolete eosinophilic gastroenteritis" 0 0 0 0 0 0 HP:0010990 "Abnormality of the common coagulation pathway" 1 1 0 0 0 0 MONDO:0004446 "olfactory groove meningioma" 1 4 0 0 0 1 MONDO:0004046 "childhood brain meningioma" 1 3 0 0 0 1 -MONDO:0014653 "retinitis pigmentosa 72" 1 4 0 0 0 1 +MONDO:0014653 "retinitis pigmentosa 72" 1 3 0 0 0 1 MONDO:0032827 "epilepsy, idiopathic generalized, susceptibility to, 16" 0 1 0 0 0 0 MONDO:0100423 "acute myeloid leukemia, PTPN11 gene mutation" 1 1 0 0 0 0 http://identifiers.org/hgnc/29941 "GATAD1" 0 0 0 0 0 0 @@ -13176,14 +13193,14 @@ MONDO:0044337 "stromal sarcoma" 1 3 0 0 0 0 MONDO:0007573 "acute erythroleukemia, familial" 1 7 0 0 0 1 GO:0008047 "enzyme activator activity" 1 0 0 0 0 1 MONDO:0009694 "myeloperoxidase deficiency" 0 8 0 0 0 0 -MONDO:0004700 "parotid gland cancer" 1 7 0 0 0 1 +MONDO:0004700 "parotid gland cancer" 1 6 0 0 0 1 MONDO:0004715 "liver carcinoma in situ" 1 5 0 0 0 1 UBERON:0011742 "aortic valve leaflet" 0 0 0 0 0 1 UBERON:0005463 "subcapsular sinus of lymph node" 0 0 0 0 0 1 -MONDO:0017388 "celiac trunk compression syndrome" 0 3 0 0 0 0 +MONDO:0017388 "celiac trunk compression syndrome" 1 2 0 0 0 0 MONDO:0002020 "obsolete Blount disease" 0 0 0 0 0 0 MONDO:0011845 "migraine with or without aura, susceptibility to, 3" 0 1 0 0 0 0 -MONDO:0001379 "ureteric orifice cancer" 1 6 0 0 0 1 +MONDO:0001379 "ureteric orifice cancer" 1 5 0 0 0 1 UBERON:0039228 "sigmoid vein" 0 0 0 0 0 1 UBERON:8300001 "right forelimb" 0 0 0 0 0 1 UBERON:0001815 "lumbosacral nerve plexus" 0 0 0 0 0 1 @@ -13203,15 +13220,15 @@ MONDO:0013987 "combined oxidative phosphorylation defect type 15" 1 6 0 0 0 1 MONDO:0015701 "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency" 1 5 0 0 0 0 MONDO:0004653 "atypical chronic myeloid leukemia, BCR-ABL1 negative" 1 4 0 0 0 0 MONDO:0000604 "obsolete autonomic peripheral neuropathy" 0 0 0 0 0 0 -MONDO:0016832 "distal 7q11.23 microduplication syndrome" 1 3 0 0 0 0 +MONDO:0016832 "distal 7q11.23 microduplication syndrome" 1 2 0 0 0 0 http://identifiers.org/hgnc/16993 "SEC61B" 0 0 0 0 0 0 -MONDO:0013425 "retinitis pigmentosa 20" 1 7 0 0 0 0 +MONDO:0013425 "retinitis pigmentosa 20" 1 6 0 0 0 0 GO:0030849 "autosome" 1 0 0 0 0 0 MONDO:0023670 "Bardet-Biedl syndrome 20" 0 1 0 0 0 0 MONDO:0032692 "Galloway-Mowat syndrome 7" 0 1 0 0 0 0 GO:0045722 "positive regulation of gluconeogenesis" 1 0 0 0 0 1 -MONDO:0014111 "cataract 19 multiple types" 1 6 0 0 0 1 -MONDO:0004151 "spinal meninges cancer" 1 5 0 0 0 1 +MONDO:0014111 "cataract 19 multiple types" 1 5 0 0 0 1 +MONDO:0004151 "spinal meninges cancer" 1 4 0 0 0 1 MONDO:0019062 "obsolete rare infectious disease" 1 2 0 0 0 0 MONDO:0004839 "obsolete neurofibroma" 0 0 0 0 0 0 MONDO:0020551 "obsolete hydatidiform mole" 0 0 0 0 0 0 @@ -13246,7 +13263,7 @@ MONDO:0012928 "hereditary spastic paraplegia 42" 1 7 0 0 0 1 MONDO:0012364 "dilated cardiomyopathy 1Q" 1 5 0 0 0 0 UBERON:0007105 "vitelline duct" 0 0 0 0 0 0 UBERON:0007267 "trachea pre-cartilage rings" 0 0 0 0 0 1 -MONDO:0021191 "malignant ependymoma" 1 2 0 0 0 1 +MONDO:0021191 "malignant ependymoma" 1 1 0 0 0 1 http://identifiers.org/hgnc/11119 "SMO" 0 0 0 0 0 0 MONDO:0032691 "Galloway-Mowat syndrome 6" 0 1 0 0 0 0 CL:1000416 "myoepithelial cell of lactiferous gland" 1 2 0 0 0 1 @@ -13267,8 +13284,8 @@ GO:0043434 "response to peptide hormone" 1 0 0 0 0 0 MONDO:0007678 "obsolete glycoprotein, renal" 0 1 0 0 0 0 MONDO:0020711 "selective peripheral resistance to thyroid hormone" 1 0 0 0 0 0 MONDO:0044312 "immunoskeletal dysplasia with neurodevelopmental abnormalities" 0 2 0 0 0 0 -MONDO:0000956 "small intestine cancer" 1 7 0 0 0 1 -MONDO:0005093 "skin disorder" 1 10 0 0 0 1 +MONDO:0000956 "small intestine cancer" 1 5 0 0 0 1 +MONDO:0005093 "skin disorder" 1 16 0 0 0 1 UBERON:0012355 "manual acropodium region" 0 0 0 0 0 1 MONDO:0020416 "Neuhauser anomaly" 1 3 0 0 0 0 UBERON:0007652 "esophageal sphincter" 0 0 0 0 0 1 @@ -13292,7 +13309,7 @@ MONDO:0011754 "familial hyperreninemic hypoaldosteronism type 2" 0 6 0 0 0 0 UBERON:0010254 "2nd arch mesenchyme from neural crest" 0 0 0 0 0 1 MONDO:0033838 "radiation-induced plexopathy" 0 1 0 0 0 1 CHEBI:35350 "hydroxy steroid" 0 0 0 0 0 0 -MONDO:0002639 "glossopharyngeal nerve disorder" 1 7 0 0 0 1 +MONDO:0002639 "glossopharyngeal nerve disorder" 1 6 0 0 0 1 UBERON:0013703 "integumentary projection" 0 0 0 0 0 1 MONDO:0000879 "cutaneous candidiasis" 1 3 0 0 0 1 UBERON:0035174 "right ear" 0 0 0 0 0 1 @@ -13309,15 +13326,15 @@ MONDO:0010601 "obsolete gynecomastia, familial" 1 3 0 0 0 0 MONDO:0021280 "mucoepidermoid carcinoma of parotid gland" 1 3 0 0 0 1 MONDO:0015603 "obsolete rare odontal or periodontal disorder" 0 2 0 0 0 0 MONDO:0018784 "pediatric multiple sclerosis" 1 3 0 0 0 1 -MONDO:0002239 "post-surgical hypoinsulinemia" 0 5 0 0 0 0 -MONDO:0019933 "acromegaly" 1 12 0 0 0 0 +MONDO:0002239 "post-surgical hypoinsulinemia" 0 4 0 0 0 0 +MONDO:0019933 "acromegaly" 1 11 0 0 0 0 http://identifiers.org/hgnc/16636 "KIF1B" 0 0 0 0 0 0 MONDO:0000657 "obsolete gamma heavy chain disease" 0 0 0 0 0 0 MONDO:0007164 "spastic ataxia 1" 1 6 0 0 0 1 HP:0003366 "Abnormal femoral neck/head morphology" 0 1 0 0 0 0 -MONDO:0011421 "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1" 1 6 0 0 0 1 +MONDO:0011421 "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1" 1 5 0 0 0 1 MONDO:0014762 "heterotaxy, visceral, 7, autosomal" 1 2 0 0 0 1 -MONDO:0012477 "retinitis pigmentosa 33" 1 6 0 0 0 1 +MONDO:0012477 "retinitis pigmentosa 33" 1 5 0 0 0 1 MONDO:0000722 "non-syndromic synpolydactyly" 1 7 0 0 0 1 UBERON:0003316 "mesenchyme of yolk sac" 0 0 0 0 0 1 http://identifiers.org/hgnc/18674 "DDX41" 0 0 0 0 0 0 @@ -13336,7 +13353,7 @@ SO:0001263 "ncRNA_gene" 1 0 0 0 0 0 HP:0001876 "Pancytopenia" 1 3 0 0 0 0 NCBITaxon:451870 "Chaetothyriomycetidae" 0 1 0 0 0 0 OBI:0000112 "specimen role"@en 1 0 0 0 0 0 -MONDO:0001966 "chronic closed-angle glaucoma" 1 5 0 0 0 1 +MONDO:0001966 "chronic closed-angle glaucoma" 1 4 0 0 0 1 http://identifiers.org/hgnc/4035 "ACKR1" 0 0 0 0 0 0 MONDO:0013164 "beta-ureidopropionase deficiency" 1 7 0 0 0 0 MONDO:0002877 "cervical carcinosarcoma" 1 8 0 0 0 1 @@ -13347,13 +13364,13 @@ MONDO:0033281 "polycystic kidney disease 5" 1 2 0 0 0 1 UBERON:0003398 "mesentery of jejunum" 0 0 0 0 0 1 MONDO:0016398 "obsolete peroxisomal disease with epilepsy" 0 2 0 0 0 0 CHEBI:60164 "ionic polymer" 1 0 0 0 0 0 -MONDO:0017372 "congenital varicella syndrome" 1 7 0 0 0 0 +MONDO:0017372 "congenital varicella syndrome" 1 6 0 0 0 0 http://identifiers.org/hgnc/11758 "TFG" 0 0 0 0 0 0 GO:0010700 "negative regulation of norepinephrine secretion" 1 0 0 0 0 1 MONDO:0006854 "mesenchymoma" 1 6 0 0 0 0 -MONDO:0002172 "otosalpingitis" 1 8 0 0 0 1 +MONDO:0002172 "otosalpingitis" 1 6 0 0 0 1 MONDO:0021662 "bile duct neoplasm" 1 2 0 0 0 1 -MONDO:0004926 "dacryocystitis" 1 7 0 0 0 1 +MONDO:0004926 "dacryocystitis" 1 6 0 0 0 1 MONDO:0007055 "acromicric dysplasia" 1 8 0 0 0 0 MONDO:0009797 "orotic aciduria" 1 8 0 0 0 0 MONDO:0019724 "secondary glomerular disease" 1 2 0 0 0 0 @@ -13364,7 +13381,7 @@ MONDO:0012740 "chromosome 22q11.2 deletion syndrome, distal" 1 8 0 0 0 0 http://identifiers.org/hgnc/30972 "SECISBP2" 0 0 0 0 0 0 GO:0030810 "positive regulation of nucleotide biosynthetic process" 1 0 0 0 0 1 MONDO:0007075 "alacrima, congenital, autosomal dominant" 0 3 0 0 0 0 -MONDO:0014465 "primary ciliary dyskinesia 30" 1 5 0 0 0 1 +MONDO:0014465 "primary ciliary dyskinesia 30" 1 4 0 0 0 1 MONDO:0037736 "infratentorial neoplasm" 1 1 0 0 0 0 MONDO:0016408 "permanent congenital hypothyroidism" 1 3 0 0 0 0 MONDO:0001240 "neonatal anemia" 1 4 0 0 0 0 @@ -13391,7 +13408,7 @@ MONDO:0007778 "obsolete hypertelorism" 1 6 0 0 0 0 GO:0061458 "reproductive system development" 1 0 0 0 0 0 MONDO:0016807 "pure mitochondrial myopathy" 1 4 0 0 0 0 CHR:9606-chr15q24 "15q24 (Human)" 0 0 0 0 0 0 -MONDO:0003962 "Froelich syndrome" 1 7 0 0 0 0 +MONDO:0003962 "Froelich syndrome" 1 6 0 0 0 0 http://identifiers.org/hgnc/361 "AK1" 0 0 0 0 0 0 CHEBI:25389 "monohydroxybenzoic acid" 1 0 0 0 0 0 NCIT:C18264 "Pathogenesis" 0 0 0 0 0 0 @@ -13435,7 +13452,7 @@ http://identifiers.org/hgnc/9446 "PRLR" 0 0 0 0 0 0 http://identifiers.org/hgnc/19960 "KIAA0586" 0 0 0 0 0 0 UBERON:0004185 "endodermal part of digestive tract" 0 0 0 0 0 1 MONDO:0015544 "acquired hemophagocytic lymphohistiocytosis associated with malignant disease" 0 2 0 0 0 0 -MONDO:0019338 "sarcoidosis" 1 19 0 0 0 0 +MONDO:0019338 "sarcoidosis" 1 17 0 0 0 0 NCBITaxon:29178 "Foraminifera" 0 1 0 0 0 0 http://identifiers.org/hgnc/6636 "LMNA" 0 0 0 0 0 0 UBERON:0006208 "auditory hillocks" 0 0 0 0 0 0 @@ -13474,7 +13491,7 @@ CL:0008035 "microcirculation associated smooth muscle cell"@en 0 0 0 0 0 1 MONDO:0008126 "obsolete oncogene Yuasa" 0 1 0 0 0 0 MONDO:0000720 "obsolete basal ganglia calcification" 0 0 0 0 0 0 GO:0060285 "cilium-dependent cell motility" 1 0 0 0 0 0 -MONDO:0000957 "lacrimal passage granuloma" 0 5 0 0 0 0 +MONDO:0000957 "lacrimal passage granuloma" 0 4 0 0 0 0 MONDO:0017537 "Preaxial polydactyly of toes, unilateral" 0 2 0 0 0 0 http://identifiers.org/hgnc/8850 "PEX1" 0 0 0 0 0 0 UBERON:0007688 "anlage" 0 0 0 0 0 0 @@ -13499,15 +13516,15 @@ MONDO:0033116 "spinocerebellar ataxia, autosomal recessive 26" 0 3 0 0 0 0 MONDO:0014835 "striatal degeneration, autosomal dominant 2" 1 2 0 0 0 1 NCBITaxon:976 "Bacteroidetes" 0 6 0 0 0 0 http://identifiers.org/hgnc/1754 "CDH15" 0 0 0 0 0 0 -MONDO:0015241 "arthrogryposis-like syndrome" 1 5 0 0 0 0 +MONDO:0015241 "arthrogryposis-like syndrome" 1 6 0 0 0 0 http://identifiers.org/hgnc/18169 "FKBP10" 0 0 0 0 0 0 UBERON:0005359 "spinal cord ependyma" 0 0 0 0 0 1 http://identifiers.org/hgnc/2218 "COL9A2" 0 0 0 0 0 0 UBERON:0000978 "leg" 0 0 0 0 0 0 http://identifiers.org/hgnc/6383 "KNG1" 0 0 0 0 0 0 UBERON:0001493 "axillary nerve" 0 0 0 0 0 0 -MONDO:0024538 "basal ganglia calcification, idiopathic, 1" 0 4 0 0 0 1 -MONDO:0010860 "autosomal recessive nonsyndromic hearing loss 3" 1 5 0 0 0 1 +MONDO:0024538 "basal ganglia calcification, idiopathic, 1" 0 7 0 0 0 1 +MONDO:0010860 "autosomal recessive nonsyndromic hearing loss 3" 1 4 0 0 0 1 MONDO:0037937 "pyrimidine metabolism disease" 1 2 0 0 0 1 CHEBI:15036 "retinoate" 0 0 0 0 0 0 HP:0000819 "Diabetes mellitus" 1 3 0 0 0 0 @@ -13542,7 +13559,7 @@ MONDO:0045063 "major salivary gland adenoid cystic carcinoma" 1 2 0 0 0 1 http://identifiers.org/hgnc/2219 "COL9A3" 0 0 0 0 0 0 GO:0061844 "antimicrobial humoral immune response mediated by antimicrobial peptide" 1 0 0 0 0 0 MONDO:0044274 "obsolete hemoglobin, high altitude adaptation" 1 1 0 0 0 0 -MONDO:0019547 "Wells syndrome" 1 7 0 0 0 0 +MONDO:0019547 "Wells syndrome" 1 6 0 0 0 0 GO:0009719 "response to endogenous stimulus" 1 0 0 0 0 0 UBERON:0004237 "blood vessel smooth muscle" 0 0 0 0 0 1 MONDO:0008850 "Cooper-Jabs syndrome" 1 5 0 0 0 0 @@ -13552,12 +13569,13 @@ CL:2000091 "endometrial microvascular endothelial cells" 1 0 0 0 0 1 CL:1000413 "endothelial cell of artery" 1 3 0 0 0 1 MONDO:0044113 "bullous systemic lupus erythematosus" 1 5 0 0 0 0 http://identifiers.org/hgnc/1983 "UTP4" 0 0 0 0 0 0 -MONDO:0005071 "nervous system disorder" 1 14 0 0 0 1 +MONDO:0005071 "nervous system disorder" 1 13 0 0 0 1 PATO:0002288 "decreased elasticity" 1 0 0 0 0 1 MONDO:0012692 "renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies" 0 3 0 0 0 0 MONDO:0012153 "Alzheimer disease 9" 0 5 0 0 0 1 MONDO:0009866 "phosphoenolpyruvate carboxykinase deficiency, cytosolic" 1 5 0 0 0 0 UBERON:0005130 "metanephric loop of Henle" 0 0 0 0 0 1 +MONDO:8000024 "autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD" 1 3 0 0 0 1 CL:1001603 "lung macrophage" 1 1 0 0 0 1 UBERON:0022296 "inferior palpebral branch of infra-orbital nerve" 0 0 0 0 0 0 MONDO:0008827 "progressive pseudorheumatoid arthropathy of childhood" 1 8 0 0 0 0 @@ -13569,13 +13587,13 @@ UBERON:0003448 "manus nerve" 0 0 0 0 0 1 MONDO:0008623 "Undritz anomaly" 0 3 0 0 0 0 MONDO:0013998 "MEGF8-related Carpenter syndrome" 1 3 0 0 0 1 MONDO:0016029 "esthesioneuroblastoma" 1 4 0 0 0 0 -MONDO:0013010 "autosomal recessive nonsyndromic hearing loss 71" 1 5 0 0 0 0 +MONDO:0013010 "autosomal recessive nonsyndromic hearing loss 71" 1 4 0 0 0 0 UBERON:0010337 "mandibular process mesenchyme from head mesenchyme" 0 0 0 0 0 1 CHEBI:43176 "hydroxy group" 0 0 0 0 0 0 http://identifiers.org/hgnc/2678 "DARS1" 0 0 0 0 0 0 UBERON:0008324 "erectile tissue" 0 0 0 0 0 0 MONDO:0000386 "digestive system neuroendocrine tumor, grade 1/2" 1 4 0 0 0 1 -MONDO:0014400 "retinitis pigmentosa 70" 1 4 0 0 0 1 +MONDO:0014400 "retinitis pigmentosa 70" 1 3 0 0 0 1 CHR:9606-chr8p2 "8p2 (Human)" 0 0 0 0 0 0 GO:0061620 "glycolytic process through glucose-6-phosphate" 1 0 0 0 0 0 GO:0005730 "nucleolus" 1 0 0 0 0 0 @@ -13587,7 +13605,7 @@ MONDO:0003855 "obsolete immature teratoma of ovary" 0 0 0 0 0 0 http://identifiers.org/hgnc/697 "ARL6IP1" 0 0 0 0 0 0 GO:0120189 "positive regulation of bile acid secretion" 1 0 0 0 0 1 MONDO:0012655 "myoclonic epilepsy, juvenile, susceptibility to, 4" 0 4 0 0 0 0 -MONDO:0020311 "chronic myelomonocytic leukemia" 1 11 0 0 0 0 +MONDO:0020311 "chronic myelomonocytic leukemia" 1 10 0 0 0 0 GO:0018271 "biotin-protein ligase activity" 1 0 0 0 0 0 MONDO:0003665 "cervical endometrioid adenocarcinoma" 1 5 0 0 0 1 http://identifiers.org/hgnc/12261 "TRDN" 0 0 0 0 0 0 @@ -13599,14 +13617,14 @@ MONDO:0023093 "exertional headache" 0 1 0 0 0 0 MONDO:0016625 "acquired deficiency anemia" 1 2 0 0 0 1 MONDO:0011620 "metaphyseal dysplasia, Braun-Tinschert type" 1 6 0 0 0 0 MONDO:0020028 "obsolete rare allergic respiratory disease" 1 2 0 0 0 0 -MONDO:0006996 "thyroid crisis" 1 11 0 0 0 0 +MONDO:0006996 "thyroid crisis" 1 10 0 0 0 0 ECTO:9001793 "exposure to anaesthetic" 1 0 0 0 0 1 UBERON:0011136 "ligament of vertebral column" 0 0 0 0 0 1 http://identifiers.org/hgnc/8853 "PEX11B" 0 0 0 0 0 0 GO:0001961 "positive regulation of cytokine-mediated signaling pathway" 1 0 0 0 0 1 UBERON:0005211 "renal medulla interstitium" 0 0 0 0 0 1 UBERON:0004851 "aorta endothelium" 0 0 0 0 0 1 -MONDO:0018503 "carcinoma of stomach, salivary gland type" 0 10 0 0 0 0 +MONDO:0018503 "carcinoma of stomach, salivary gland type" 0 2 0 0 0 0 MONDO:0700057 "neurological pain disorder" 1 0 0 0 0 1 HP:0001548 "Overgrowth" 1 3 0 0 0 0 UBERON:0004177 "hemopoietic organ" 0 0 0 0 0 1 @@ -13623,24 +13641,24 @@ MONDO:0006658 "arteriolosclerosis" 1 6 0 0 0 0 MONDO:0001436 "hemosiderosis" 1 6 0 0 0 0 MONDO:0017319 "hereditary elliptocytosis" 1 15 0 0 0 0 MONDO:0013075 "herpes simplex encephalitis, susceptibility to, 2" 0 2 0 0 0 0 -MONDO:0002257 "ankylosis" 1 7 0 0 0 0 +MONDO:0002257 "ankylosis" 1 6 0 0 0 0 MONDO:0700041 "neuroblastoma, susceptibility to, 2" 0 1 0 0 0 1 UBERON:0017635 "paired venous dural sinus" 0 0 0 0 0 1 MONDO:0010534 "X-linked spinocerebellar ataxia type 4" 1 7 0 0 0 0 MONDO:0044937 "rectal carcinoma" 1 1 0 0 0 1 MONDO:0018974 "paraneoplastic pemphigus" 1 6 0 0 0 0 http://identifiers.org/hgnc/2022 "CLCN4" 0 0 0 0 0 0 -MONDO:0014106 "hypogonadotropic hypogonadism 20 with or without anosmia" 1 4 0 0 0 1 +MONDO:0014106 "hypogonadotropic hypogonadism 20 with or without anosmia" 1 3 0 0 0 1 MONDO:0024249 "pityriasis lichenoides" 1 4 0 0 0 0 MONDO:0018813 "high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement" 0 1 0 0 0 0 MONDO:0009794 "orofaciodigital syndrome IV" 1 8 0 0 0 0 MONDO:0015640 "benign infantile seizures associated with mild gastroenteritis" 1 2 0 0 0 0 MONDO:0013077 "Santos syndrome" 0 3 0 0 0 0 -MONDO:0001414 "osteopoikilosis" 1 8 0 0 0 0 +MONDO:0001414 "osteopoikilosis" 1 7 0 0 0 0 UBERON:0000162 "cloaca" 0 0 0 0 0 0 MONDO:0018789 "obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy" 0 2 0 0 0 0 http://identifiers.org/hgnc/2553 "CUL3" 0 0 0 0 0 0 -MONDO:0002026 "candidiasis" 1 10 0 0 0 1 +MONDO:0002026 "candidiasis" 1 9 0 0 0 1 UBERON:0010842 "calcaneum cartilage element" 0 0 0 0 0 1 http://identifiers.org/hgnc/10402 "RPS19" 0 0 0 0 0 0 MONDO:0008369 "proximal renal tubular acidosis" 1 7 0 0 0 0 @@ -13648,9 +13666,9 @@ GO:0031090 "organelle membrane" 1 0 0 0 0 1 MONDO:0009379 "Rotor syndrome" 1 7 0 0 0 0 GO:0030104 "water homeostasis" 1 0 0 0 0 0 HP:0001337 "Tremor" 1 3 0 0 0 0 -MONDO:0001422 "primary aldosteronism" 1 6 0 0 0 0 +MONDO:0001422 "primary aldosteronism" 1 5 0 0 0 0 CL:0000775 "neutrophil" 1 3 0 0 0 0 -MONDO:0044331 "genetic transient congenital hypothyroidism" 1 2 0 0 0 1 +MONDO:0044331 "genetic transient congenital hypothyroidism" 1 1 0 0 0 1 MONDO:0023140 "fenton Wilkinson Toselano syndrome" 0 1 0 0 0 0 http://identifiers.org/hgnc/9080 "PLN" 0 0 0 0 0 0 UBERON:0009536 "vascular element of left lung" 0 0 0 0 0 1 @@ -13673,7 +13691,7 @@ MONDO:0015970 "obsolete rare genetic parathyroid disease and phosphocalcic metab MONDO:0009975 "reticulum cell sarcoma" 1 11 0 0 0 0 CL:0000127 "astrocyte" 1 3 0 0 0 0 MONDO:0030005 "epilepsy, early-onset, with or without developmental delay" 0 1 0 0 0 0 -MONDO:0007969 "Melkersson-Rosenthal syndrome" 1 10 0 0 0 0 +MONDO:0007969 "Melkersson-Rosenthal syndrome" 1 9 0 0 0 0 http://identifiers.org/hgnc/8943 "SERPINI1" 0 0 0 0 0 0 MONDO:0022672 "autosomal dominant cataract" 1 1 0 0 0 1 http://identifiers.org/hgnc/7176 "MMP9" 0 0 0 0 0 0 @@ -13693,7 +13711,7 @@ MONDO:0000911 "obsolete dilated cardiomyopathy 1T" 1 4 0 0 0 0 MONDO:0002072 "melanotic neuroectodermal tumor" 1 7 0 0 0 0 CL:1000507 "kidney tubule cell" 0 1 0 0 0 1 GO:0042321 "negative regulation of circadian sleep/wake cycle, sleep" 1 0 0 0 0 1 -MONDO:0002516 "digestive system cancer" 1 7 0 0 0 1 +MONDO:0002516 "digestive system cancer" 1 6 0 0 0 1 GO:0098632 "cell-cell adhesion mediator activity" 1 0 0 0 0 1 NCBITaxon:44281 "Pneumocystidaceae" 0 1 0 0 0 0 GO:0006733 "obsolete oxidoreduction coenzyme metabolic process" 1 0 0 0 0 0 @@ -13708,9 +13726,9 @@ NCBITaxon:64895 "Borreliella" 0 18 0 0 0 0 CHEBI:47868 "photosensitizing agent" 1 0 0 0 0 0 CHEBI:26536 "retinoic acid" 1 0 0 0 0 0 MONDO:0019526 "erythema elevatum diutinum" 1 9 0 0 0 0 -MONDO:0012571 "primary ciliary dyskinesia 6" 1 5 0 0 0 1 +MONDO:0012571 "primary ciliary dyskinesia 6" 1 4 0 0 0 1 MONDO:0013895 "Adams-Oliver syndrome 3" 1 3 0 0 0 1 -MONDO:0001271 "lens subluxation" 1 8 0 0 0 0 +MONDO:0001271 "lens subluxation" 1 7 0 0 0 0 MONDO:0010424 "surfactant metabolism dysfunction, pulmonary, 4" 0 4 0 0 0 0 UBERON:0004699 "outflow tract endothelium" 0 0 0 0 0 1 NCBITaxon:11050 "Flaviviridae" 0 1 0 0 0 0 @@ -13721,7 +13739,7 @@ MONDO:0016217 "mal de Debarquement" 1 6 0 0 0 0 http://identifiers.org/hgnc/291 "ADSL" 0 0 0 0 0 0 MONDO:0019315 "diffuse cutaneous mastocytosis" 1 9 0 0 0 0 ECTO:9002131 "exposure to flame retardant" 1 0 0 0 0 1 -MONDO:0013910 "hypogonadotropic hypogonadism 8 with or without anosmia" 1 5 0 0 0 1 +MONDO:0013910 "hypogonadotropic hypogonadism 8 with or without anosmia" 1 4 0 0 0 1 MONDO:0032853 "myopathy, distal, 6, adult-onset, autosomal dominant" 0 1 0 0 0 0 MONDO:0024649 "optic tract astrocytoma" 1 2 0 0 0 1 MONDO:0010887 "isolated anterior cervical hypertrichosis" 1 7 0 0 0 0 @@ -13756,9 +13774,9 @@ MONDO:0014905 "encephalopathy due to defective mitochondrial and peroxisomal fis MONDO:0006539 "diffuse lipomatosis" 1 4 0 0 0 0 HP:0000090 "Nephronophthisis" 1 2 0 0 0 0 ENVO:09200017 "composition of water" 1 0 0 0 0 1 -MONDO:0008226 "periodontitis, aggressive 1" 1 8 0 0 0 0 +MONDO:0008226 "periodontitis, aggressive 1" 1 7 0 0 0 0 MONDO:0007525 "Ehlers-Danlos syndrome, arthrochalasis type" 1 11 0 0 0 0 -MONDO:0009987 "autosomal recessive pericentral pigmentary retinopathy" 1 6 0 0 0 0 +MONDO:0009987 "autosomal recessive pericentral pigmentary retinopathy" 1 5 0 0 0 0 MONDO:0007259 "craniofaciofrontodigital syndrome" 1 6 0 0 0 0 UBERON:0004405 "distal epiphysis of tibia" 0 0 0 0 0 1 MONDO:0013999 "optic nerve edema-splenomegaly syndrome" 1 3 0 0 0 0 @@ -13768,7 +13786,7 @@ MONDO:0012223 "hypotrichosis, progressive patterned scalp, with wiry hair, onych MONDO:0043129 "merlob grunebaum reisner syndrome" 0 3 0 0 0 0 http://identifiers.org/hgnc/4289 "GK" 0 0 0 0 0 0 MONDO:0002001 "obsolete disease of cellular proliferation" 0 0 0 0 0 0 -MONDO:0015744 "distal trisomy 19q" 1 3 0 0 0 0 +MONDO:0015744 "distal trisomy 19q" 1 2 0 0 0 0 MONDO:0009863 "BH4-deficient hyperphenylalaninemia A" 1 11 0 0 0 0 UBERON:0000410 "bronchial mucosa" 0 0 0 0 0 1 MONDO:0013649 "hypotrichosis 9" 1 4 0 0 0 0 @@ -13842,7 +13860,7 @@ MONDO:0011833 "spinocerebellar ataxia type 21" 1 9 0 0 0 0 UBERON:0010586 "manual digit phalanx pre-cartilage condensation" 0 0 0 0 0 1 MONDO:0024523 "aortic valve disease 1" 1 5 0 0 0 1 MONDO:0017036 "Langerhans cell histiocytosis in childhood and adulthood" 0 1 0 0 0 0 -MONDO:0005534 "ileocolitis" 1 5 0 0 0 1 +MONDO:0005534 "ileocolitis" 1 4 0 0 0 1 MONDO:0008042 "myoclonus and ataxia" 0 3 0 0 0 0 UBERON:0009569 "subdivision of trunk" 0 0 0 0 0 0 CHEBI:76726 "EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor" 1 0 0 0 0 0 @@ -13851,7 +13869,7 @@ MONDO:0019205 "trichodysplasia-amelogenesis imperfecta syndrome" 1 2 0 0 0 0 MONDO:0004289 "glottis verrucous carcinoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/11123 "SMS" 0 0 0 0 0 0 MONDO:0016277 "malignant mixed epithelial and mesenchymal tumor of cervix uteri" 0 5 0 0 0 0 -MONDO:0006500 "hemangioma" 1 15 0 0 0 0 +MONDO:0006500 "hemangioma" 1 13 0 0 0 0 HP:0003231 "Hypertyrosinemia" 1 2 0 0 0 0 MONDO:0016521 "muscular pseudohypertrophy-hypothyroidism syndrome" 1 3 0 0 0 0 MONDO:0007301 "cerebrocostomandibular syndrome" 1 9 0 0 0 0 @@ -13869,10 +13887,9 @@ MONDO:0010403 "albinism-hearing loss syndrome" 1 7 0 0 0 0 HP:0011842 "Abnormality of skeletal morphology" 1 1 0 0 0 0 http://identifiers.org/hgnc/21191 "DAOA" 0 0 0 0 0 0 http://identifiers.org/hgnc/10936 "SLC18A3" 0 0 0 0 0 0 -MONDO:0009553 "Plasmodium falciparum blood infection level" 0 1 0 0 0 0 -MONDO:0016052 "atypical autism" 1 5 0 0 0 0 +MONDO:0016052 "atypical autism" 1 4 0 0 0 0 NCIT:C16152 "HER2/Neu Status" 0 0 0 0 0 0 -MONDO:0002913 "cerebellar neoplasm" 1 9 0 0 0 1 +MONDO:0002913 "cerebellar neoplasm" 1 8 0 0 0 1 HP:0002226 "White eyebrow" 1 3 0 0 0 0 MONDO:0042495 "arteriosclerotic retinopathy" 1 4 0 0 0 1 http://identifiers.org/hgnc/11411 "CDKL5" 0 0 0 0 0 0 @@ -13902,26 +13919,26 @@ MONDO:0011730 "fumaric aciduria" 1 9 0 0 0 0 MONDO:0024303 "external hirudiniasis" 1 3 0 0 0 1 MONDO:0003263 "childhood cerebellar neoplasm" 1 3 0 0 0 1 http://identifiers.org/hgnc/29670 "GNPTAB" 0 0 0 0 0 0 -MONDO:0013414 "retinitis pigmentosa 44" 1 4 0 0 0 1 +MONDO:0013414 "retinitis pigmentosa 44" 1 3 0 0 0 1 MONDO:0017058 "autosomal recessive intermediate Charcot-Marie-Tooth disease" 1 4 0 0 0 1 MONDO:0014648 "Al-Raqad syndrome" 0 2 0 0 0 0 -MONDO:0013413 "retinitis pigmentosa 45" 1 4 0 0 0 1 +MONDO:0013413 "retinitis pigmentosa 45" 1 3 0 0 0 1 NCBITaxon:5587 "Rhinocladiella" 0 1 0 0 0 0 IAO:0000007 "action specification"@en 2 0 0 0 0 0 MONDO:0010688 "hereditary sensory neuropathy X-linked" 1 4 0 0 0 0 http://identifiers.org/hgnc/3588 "FANCG" 0 0 0 0 0 0 MONDO:0000565 "infective endocarditis" 1 6 0 0 0 1 -MONDO:0005244 "peripheral neuropathy" 1 10 0 0 0 0 +MONDO:0005244 "peripheral neuropathy" 1 9 0 0 0 0 ENVO:01000554 "hydrocarbon gas"@en 1 0 0 0 0 1 MONDO:0009944 "pyloric atresia" 0 4 0 0 0 0 -MONDO:0018039 "selective IgM deficiency" 1 6 0 0 0 0 +MONDO:0018039 "selective IgM deficiency" 1 5 0 0 0 0 MONDO:0006029 "cecum carcinoma" 1 5 0 0 0 1 MONDO:0016799 "obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism" 0 2 0 0 0 0 GO:0005829 "cytosol" 1 0 0 0 0 0 UBERON:0035110 "lateral plantar nerve" 0 0 0 0 0 1 NCBITaxon:2499411 "Articulavirales" 0 1 0 0 0 0 UBERON:0009494 "pharyngeal arch mesenchymal region" 0 0 0 0 0 1 -MONDO:0001985 "partial arterial retinal occlusion" 1 7 0 0 0 0 +MONDO:0001985 "partial arterial retinal occlusion" 1 5 0 0 0 0 MONDO:0056803 "sulfur metabolism disease" 1 2 0 0 0 1 MONDO:0004340 "mixed ductal-endocrine carcinoma of pancreas" 1 3 0 0 0 0 HP:0011514 "Abnormality of binocular vision" 1 1 0 0 0 0 @@ -13931,7 +13948,7 @@ MONDO:0020051 "total autosomal trisomy" 0 1 0 0 0 0 MONDO:0001024 "pneumonic plague" 1 8 0 0 0 1 MONDO:0014844 "premature ovarian failure 12" 1 2 0 0 0 1 UBERON:0035198 "superficial lymphatic vessel" 0 0 0 0 0 1 -MONDO:0001676 "erythropoietic protoporphyria" 1 9 0 0 0 0 +MONDO:0001676 "erythropoietic protoporphyria" 1 8 0 0 0 0 MONDO:0011850 "migraine with or without aura, susceptibility to, 5" 0 1 0 0 0 0 HP:0001878 "Hemolytic anemia" 1 3 0 0 0 0 NCBITaxon:86056 "Rhinocladiella mackenziei" 0 1 0 0 0 0 @@ -13952,7 +13969,7 @@ MONDO:0007736 "HPA 1 Recognition polymorphism, beta-globin-related" 0 1 0 0 0 0 UBERON:0035639 "ocular adnexa" 0 0 0 0 0 0 UBERON:0004804 "oviduct epithelium" 0 0 0 0 0 1 http://identifiers.org/hgnc/3587 "FANCF" 0 0 0 0 0 0 -MONDO:0003038 "dysgraphia" 1 3 0 0 0 0 +MONDO:0003038 "dysgraphia" 1 2 0 0 0 0 PATO:0001592 "increased curvature" 1 0 0 0 0 1 MONDO:0017631 "obsolete rare tumor of gallbladder and extrahepatic biliary tract" 0 2 0 0 0 0 MONDO:0002119 "ossifying fibroma" 1 9 0 0 0 0 @@ -13982,10 +13999,10 @@ MONDO:0009637 "inborn mitochondrial myopathy" 1 9 0 0 0 1 http://identifiers.org/hgnc/10955 "SLCO2A1" 0 0 0 0 0 0 MONDO:0019527 "undifferentiated connective tissue syndrome" 1 6 0 0 0 0 UBERON:0001840 "semicircular canal" 0 0 0 0 0 0 -MONDO:0005453 "congenital heart disease" 1 12 0 0 0 0 +MONDO:0005453 "congenital heart disease" 1 11 0 0 0 0 NCIT:C15329 "Surgical Procedure" 0 1 0 0 0 0 MONDO:0001111 "obsolete thrombotic thrombocytopenic purpura" 0 0 0 0 0 0 -MONDO:0010138 "thyrotoxicosis" 1 11 0 0 0 0 +MONDO:0010138 "thyrotoxicosis" 1 9 0 0 0 0 MONDO:0006878 "Moraxellaceae infectious disease" 1 2 0 0 0 1 UBERON:0002190 "subcutaneous adipose tissue" 0 0 0 0 0 1 MONDO:0007729 "developmental dysplasia of the hip 1" 0 1 0 0 0 0 @@ -14019,19 +14036,19 @@ NCBITaxon:10232 "Acanthocephala " 0 1 0 0 0 0 MONDO:0016252 "obsolete rare uterine cancer" 1 1 0 0 0 0 HP:0007754 "Macular dystrophy" 1 1 0 0 0 0 MONDO:0008938 "early-onset cerebellar ataxia with retained tendon reflexes" 1 8 0 0 0 0 -MONDO:0010645 "oculocerebrorenal syndrome" 1 12 0 0 0 0 +MONDO:0010645 "oculocerebrorenal syndrome" 1 11 0 0 0 0 MONDO:8000012 "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1" 0 3 0 0 0 0 NCBITaxon:134742 "Sigmodon alstoni" 0 1 0 0 0 0 MPATH:1000 "pathological phenotype observation" 1 0 0 0 0 0 PCO:0000029 "multi-species collection of organisms"@en 1 0 0 0 0 0 CHEBI:59869 "L-alpha-amino acid zwitterion" 1 0 0 0 0 0 UBERON:0001352 "external acoustic meatus" 0 0 0 0 0 0 -MONDO:0005806 "hypopharynx cancer" 1 12 0 0 0 1 +MONDO:0005806 "hypopharynx cancer" 1 10 0 0 0 1 MONDO:0001080 "acute gonococcal cervicitis" 1 4 0 0 0 1 GO:0002532 "production of molecular mediator involved in inflammatory response" 1 0 0 0 0 0 MONDO:0024881 "secondary malignant neoplasm" 1 4 0 0 0 0 MONDO:0032778 "arthrogryposis multiplex congenita 3, myogenic type" 0 1 0 0 0 1 -MONDO:0013145 "Brugada syndrome 6" 1 6 0 0 0 1 +MONDO:0013145 "Brugada syndrome 6" 1 5 0 0 0 1 MONDO:0005773 "Gerstmann syndrome" 1 9 0 0 0 0 MONDO:0016409 "primary congenital hypothyroidism" 1 3 0 0 0 0 MONDO:0021472 "benign neoplasm of scrotum" 1 5 0 0 0 1 @@ -14040,13 +14057,13 @@ MONDO:0012553 "cerebrooculofacioskeletal syndrome 2" 1 5 0 0 0 1 CHR:9606-chr16p12.1-p12.3 "16p12.1-p12.3 (Human)" 0 0 0 0 0 0 CHEBI:36333 "local anaesthetic" 1 0 0 0 0 0 UBERON:0006876 "vasculature of organ" 0 0 0 0 0 1 -MONDO:0007540 "multiple endocrine neoplasia type 1" 1 13 0 0 0 1 +MONDO:0007540 "multiple endocrine neoplasia type 1" 1 12 0 0 0 1 MONDO:0044817 "acquired idiopathic torsion dystonia" 1 2 0 0 0 1 MONDO:0005662 "balantidiasis" 1 11 0 0 0 1 MONDO:0009162 "Ellis-van Creveld syndrome" 1 13 0 0 0 0 -MONDO:0015274 "chronic beryllium disease" 1 9 0 0 0 1 +MONDO:0015274 "chronic beryllium disease" 1 8 0 0 0 1 MONDO:0004424 "obsolete familial glomangioma" 0 0 0 0 0 0 -MONDO:0005010 "coronary artery disorder" 1 33 0 0 0 1 +MONDO:0005010 "coronary artery disorder" 1 27 0 0 0 1 MONDO:0005608 "varicella zoster infection" 1 5 0 0 0 1 UBERON:0015485 "choledocho-duodenal junction" 0 0 0 0 0 1 MONDO:0017411 "neonatal inflammatory skin and bowel disease" 1 5 0 0 0 0 @@ -14068,9 +14085,9 @@ MONDO:0012554 "cerebrooculofacioskeletal syndrome 4" 1 6 0 0 0 1 UBERON:8410000 "duodeno-jejunal junction" 0 0 0 0 0 1 GO:0045576 "mast cell activation" 1 0 0 0 0 0 CHEBI:33263 "diatomic oxygen" 0 0 0 0 0 0 -MONDO:0013859 "cataract 38" 1 5 0 0 0 1 +MONDO:0013859 "cataract 38" 1 4 0 0 0 1 CHEBI:50315 "chloronium" 0 0 0 0 0 0 -MONDO:0005190 "macroglobulinemia" 1 6 0 0 0 0 +MONDO:0005190 "macroglobulinemia" 1 5 0 0 0 0 MONDO:0006611 "skin sarcoidosis" 1 7 0 0 0 1 MONDO:0009810 "autosomal recessive distal osteolysis syndrome" 1 8 0 0 0 0 MONDO:0030498 "immunodeficiency 92" 0 1 0 0 0 0 @@ -14091,17 +14108,17 @@ MONDO:0008122 "obsolete olivopontocerebellar atrophy 5" 0 0 0 0 0 0 MONDO:0600018 "acinar dysplasia caused by mutation in FGFR2" 1 0 0 0 0 1 UBERON:0005013 "mucosa of male urethra" 0 0 0 0 0 1 HP:0011276 "Vascular skin abnormality" 0 4 0 0 0 0 -MONDO:0013569 "short-rib thoracic dysplasia 7 with or without polydactyly" 1 6 0 0 0 0 +MONDO:0013569 "short-rib thoracic dysplasia 7 with or without polydactyly" 1 5 0 0 0 0 MONDO:0021661 "coronary atherosclerosis" 1 3 0 0 0 1 MONDO:0003575 "comedocarcinoma" 1 4 0 0 0 0 MONDO:0001674 "diverticulitis of colon" 1 6 0 0 0 1 -MONDO:0013146 "Brugada syndrome 7" 1 7 0 0 0 1 +MONDO:0013146 "Brugada syndrome 7" 1 6 0 0 0 1 MONDO:0015879 "non-syndromic diaphragmatic or thoracic malformation" 0 1 0 0 0 0 MONDO:0006635 "Acinetobacter infectious disease" 1 4 0 0 0 1 GO:0015923 "mannosidase activity" 1 0 0 0 0 0 MONDO:0000986 "pleurisy" 1 8 0 0 0 1 NCBITaxon:56251 "Plagiorchioidea" 0 1 0 0 0 0 -MONDO:0001741 "hyperparathyroidism" 1 10 0 0 0 0 +MONDO:0001741 "hyperparathyroidism" 1 9 0 0 0 0 MONDO:0022094 "Cartwright Nelson Fryns syndrome" 0 3 0 0 0 0 MONDO:0005419 "metamphetamine dependence" 1 1 0 0 0 0 CL:0001027 "CD7-negative lymphoid progenitor cell" 1 0 0 0 0 0 @@ -14113,7 +14130,7 @@ UBERON:0002079 "left cardiac atrium" 0 0 0 0 0 1 MONDO:0020411 "aorto-left ventricular tunnel" 0 2 0 0 0 0 CL:1000706 "ureter urothelial cell" 0 1 0 0 0 1 MONDO:0012940 "inflammatory bowel disease 24" 1 4 0 0 0 0 -MONDO:0019516 "exudative vitreoretinopathy" 1 18 0 0 0 0 +MONDO:0019516 "exudative vitreoretinopathy" 1 17 0 0 0 0 MONDO:0004308 "meningeal sarcoma" 1 3 0 0 0 1 MONDO:0002839 "leather-bottle stomach" 1 5 0 0 0 0 MONDO:0004712 "herpes simplex dermatitis" 1 8 0 0 0 1 @@ -14121,7 +14138,7 @@ GO:0061045 "negative regulation of wound healing" 1 0 0 0 0 1 CL:4006000 "fibroblast of breast" 1 0 0 0 0 1 MONDO:0025353 "developmental and epileptic encephalopathy, 90" 0 1 0 0 0 0 MONDO:0032943 "neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies" 0 1 0 0 0 0 -MONDO:0100121 "SCN4A-related myopathy, autosomal recessive" 1 1 0 0 0 1 +MONDO:0100121 "SCN4A-related myopathy, autosomal recessive" 1 0 0 0 0 1 MONDO:0017827 "malignant peripheral nerve sheath tumor" 1 12 0 0 0 0 MONDO:0017366 "hereditary pheochromocytoma-paraganglioma" 1 13 0 0 0 0 MONDO:0000485 "spasmodic dystonia" 1 7 0 0 0 0 @@ -14134,10 +14151,10 @@ UBERON:0001754 "dental pulp" 0 0 0 0 0 0 MONDO:0005857 "morbillivirus infectious disease" 1 3 0 0 0 1 UBERON:0015082 "proximal tarsal cartilage" 0 0 0 0 0 1 MONDO:0018623 "postpartum psychosis" 1 5 0 0 0 0 -MONDO:0008541 "spermatic cord torsion" 1 11 0 0 0 0 +MONDO:0008541 "spermatic cord torsion" 1 8 0 0 0 0 MONDO:0018465 "insulin autoimmune syndrome" 1 7 0 0 0 0 MONDO:0009950 "pyruvate kinase deficiency of red cells" 1 9 0 0 0 0 -MONDO:0001901 "selective IgG subclass deficiency" 1 6 0 0 0 0 +MONDO:0001901 "selective IgG subclass deficiency" 1 5 0 0 0 0 NCBITaxon:10912 "Rotavirus" 0 1 0 0 0 0 http://identifiers.org/hgnc/575 "AP4S1" 0 0 0 0 0 0 MONDO:0020531 "long chain acyl-CoA dehydrogenase deficiency" 1 7 0 0 0 1 @@ -14157,7 +14174,7 @@ MONDO:0020004 "obsolete rare eye disease" 1 2 0 0 0 0 UBERON:0035489 "branch of basilar artery" 0 0 0 0 0 1 GO:0046885 "regulation of hormone biosynthetic process" 1 0 0 0 0 1 MONDO:0007397 "craniometaphyseal dysplasia, autosomal dominant" 0 5 0 0 0 0 -MONDO:0008575 "nicotine dependence" 1 10 0 0 0 0 +MONDO:0008575 "nicotine dependence" 1 8 0 0 0 0 MONDO:0015564 "Castleman disease" 1 14 0 0 0 0 UBERON:0005473 "sacral region" 0 0 0 0 0 0 HP:0004377 "Hematological neoplasm" 1 4 0 0 0 0 @@ -14166,17 +14183,16 @@ HP:0002204 "Pulmonary embolism" 1 3 0 0 0 0 MONDO:0020091 "obsolete male infertility due to obstructive azoospermia" 0 2 0 0 0 0 MONDO:0001666 "retinal dystrophies primarily involving Bruch's membrane" 1 2 0 0 0 1 MONDO:0003308 "pleural mesothelioma" 1 6 0 0 0 1 -MONDO:0013589 "focal segmental glomerulosclerosis 6" 1 5 0 0 0 1 +MONDO:0013589 "focal segmental glomerulosclerosis 6" 1 4 0 0 0 1 MONDO:0014803 "spasticity-ataxia-gait anomalies syndrome" 0 4 0 0 0 0 MONDO:0014639 "familial temporal lobe epilepsy 7" 1 4 0 0 0 0 -MONDO:0011160 "autosomal recessive nonsyndromic hearing loss 15" 1 5 0 0 0 1 +MONDO:0011160 "autosomal recessive nonsyndromic hearing loss 15" 1 4 0 0 0 1 UBERON:0005733 "limb field" 0 0 0 0 0 1 MONDO:0030433 "Charcot-Marie-Tooth disease, axonal, type 2FF" 0 1 0 0 0 0 CL:2000092 "hair follicular keratinocyte" 1 0 0 0 0 1 CL:0009019 "nephrogenic zone cell" 1 0 0 0 0 1 http://identifiers.org/hgnc/18712 "LGI4" 0 0 0 0 0 0 MONDO:0012053 "aneurysm, intracranial berry, 2" 0 5 0 0 0 0 -MONDO:0016998 "complex chromosomal rearrangement" 0 1 0 0 0 0 GO:0001802 "type III hypersensitivity" 1 0 0 0 0 0 SO:0001254 "polyploid" 1 0 0 0 0 0 MONDO:0030015 "bone marrow failure syndrome 6" 0 1 0 0 0 0 @@ -14190,14 +14206,14 @@ MONDO:0017477 "lower limb hypertrophy" 1 2 0 0 0 0 MONDO:0007440 "major affective disorder 1" 0 2 0 0 0 0 http://identifiers.org/hgnc/18571 "XKRY" 0 0 0 0 0 0 MONDO:0003662 "obsolete endometrioid ovary carcinoma" 0 0 0 0 0 0 -MONDO:0013148 "Brugada syndrome 8" 1 6 0 0 0 1 +MONDO:0013148 "Brugada syndrome 8" 1 5 0 0 0 1 NCBITaxon:10335 "Human alphaherpesvirus 3" 0 1 0 0 0 0 http://identifiers.org/hgnc/28216 "COX14" 0 0 0 0 0 0 http://identifiers.org/hgnc/13345 "LPIN1" 0 0 0 0 0 0 MONDO:0040753 "latent tuberculosis infection" 1 3 0 0 0 0 MONDO:0009027 "cramps, familial adolescent" 0 1 0 0 0 0 MONDO:0021530 "benign neoplasm of subglottis" 1 3 0 0 0 1 -MONDO:0010383 "fragile X syndrome" 1 11 0 0 0 0 +MONDO:0010383 "fragile X syndrome" 1 10 0 0 0 0 MONDO:0023161 "viral myocarditis" 1 3 0 0 0 1 MONDO:0016419 "hereditary breast carcinoma" 1 19 0 0 0 1 http://identifiers.org/hgnc/4389 "GNAO1" 0 0 0 0 0 0 @@ -14208,7 +14224,7 @@ CHR:9606-chr14 "chromosome 14 (Human)" 0 0 0 0 0 0 MONDO:0000792 "obsolete zebrafish allergy" 0 1 0 0 0 0 MONDO:0000898 "malignant hemangioma" 1 2 0 0 0 0 UBERON:0001318 "inferior vesical vein" 0 0 0 0 0 1 -MONDO:0013662 "Barrett esophagus" 1 11 0 0 0 0 +MONDO:0013662 "Barrett esophagus" 1 9 0 0 0 0 http://identifiers.org/hgnc/2615 "CYP2B6" 0 0 0 0 0 0 MONDO:0018915 "obsolete pneumococcal meningitis" 0 0 0 0 0 0 MONDO:0019117 "genetic nervous system disorder" 1 2 0 0 0 1 @@ -14216,7 +14232,7 @@ UBERON:0001288 "loop of Henle" 0 0 0 0 0 1 MONDO:0012596 "PSAT deficiency" 1 8 0 0 0 0 MONDO:0100288 "enhanced S-cone syndrome" 1 6 0 0 0 0 MONDO:0000522 "obsolete inflammatory myofibroblastic tumor" 0 0 0 0 0 0 -MONDO:0004713 "lower gum cancer" 1 5 0 0 0 1 +MONDO:0004713 "lower gum cancer" 1 4 0 0 0 1 NCBITaxon:11232 "Canine morbillivirus" 0 1 0 0 0 0 MONDO:0009431 "hereditary hypophosphatemic rickets with hypercalciuria" 1 8 0 0 0 0 MONDO:0004102 "columnar cell variant thyroid gland papillary carcinoma" 1 4 0 0 0 0 @@ -14225,9 +14241,9 @@ UBERON:0014403 "male anatomical structure" 0 0 0 0 0 1 http://identifiers.org/hgnc/14539 "RNF213" 0 0 0 0 0 0 MONDO:0014878 "patent ductus arteriosus 2" 0 2 0 0 0 0 http://identifiers.org/hgnc/30794 "CEP57" 0 0 0 0 0 0 -MONDO:0003540 "acute T cell leukemia" 0 9 0 0 0 1 +MONDO:0003540 "acute T cell leukemia" 0 7 0 0 0 1 MONDO:0005862 "multiple chemical sensitivity" 1 5 0 0 0 0 -MONDO:0014030 "primary ciliary dyskinesia 20" 1 5 0 0 0 1 +MONDO:0014030 "primary ciliary dyskinesia 20" 1 4 0 0 0 1 GO:0022604 "regulation of cell morphogenesis" 1 0 0 0 0 1 UBERON:0004383 "epiphysis of tibia" 0 0 0 0 0 1 MONDO:0007067 "pyruvate kinase hyperactivity" 1 4 0 0 0 0 @@ -14238,7 +14254,7 @@ MONDO:0003169 "diencephalic astrocytomas" 1 3 0 0 0 1 http://identifiers.org/hgnc/17057 "CARD8" 0 0 0 0 0 0 ENVO:01000665 "waste role"@en 1 0 0 0 0 0 MONDO:0017479 "amelia of upper limb, bilateral" 0 2 0 0 0 0 -MONDO:0019638 "renal dysplasia" 1 3 0 0 0 0 +MONDO:0019638 "renal dysplasia" 1 2 0 0 0 0 MONDO:0016473 "familial rhabdoid tumor" 1 8 0 0 0 1 MONDO:0005529 "obsolete methylmalonic aciduria and homocystinuria type cblG" 0 0 0 0 0 0 GO:1901717 "positive regulation of gamma-aminobutyric acid catabolic process" 1 0 0 0 0 1 @@ -14280,11 +14296,11 @@ GO:0003073 "regulation of systemic arterial blood pressure" 1 0 0 0 0 0 MONDO:0019269 "ichthyosis" 1 7 0 0 0 0 MONDO:0011008 "cleft lip/palate-intestinal malrotation-cardiopathy syndrome" 1 7 0 0 0 0 UBERON:0002304 "layer of dentate gyrus" 0 0 0 0 0 1 -MONDO:0004389 "mite infestation" 1 8 0 0 0 0 -MONDO:0009366 "normal pressure hydrocephalus" 1 10 0 0 0 0 +MONDO:0004389 "mite infestation" 1 6 0 0 0 0 +MONDO:0009366 "normal pressure hydrocephalus" 1 9 0 0 0 0 MONDO:0018055 "pediatric hepatocellular carcinoma" 1 6 0 0 0 1 MONDO:0005063 "medullary breast carcinoma" 1 5 0 0 0 0 -MONDO:0012437 "cataract 21 multiple types" 1 7 0 0 0 1 +MONDO:0012437 "cataract 21 multiple types" 1 6 0 0 0 1 MONDO:0024528 "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1" 1 4 0 0 0 1 UBERON:0005993 "pulmonary valve anulus" 0 0 0 0 0 1 MONDO:0005928 "post-thrombotic syndrome" 1 10 0 0 0 0 @@ -14302,7 +14318,7 @@ UBERON:8410044 "vein of appendix" 0 0 0 0 0 1 http://identifiers.org/hgnc/21869 "AGK" 0 0 0 0 0 0 MONDO:0015419 "midline cervical cleft" 1 4 0 0 0 0 MONDO:0001169 "spastic monoplegia" 1 4 0 0 0 0 -MONDO:0019439 "AA amyloidosis" 1 9 0 0 0 0 +MONDO:0019439 "AA amyloidosis" 1 8 0 0 0 0 UBERON:0003443 "thoracic cavity nerve" 0 0 0 0 0 1 MONDO:0007267 "hypertrophic cardiomyopathy 3" 1 4 0 0 0 1 NCBITaxon:1759442 "Trichosporonaceae" 0 1 0 0 0 0 @@ -14310,13 +14326,13 @@ MONDO:0019384 "encephalitis lethargica" 1 10 0 0 0 0 MONDO:0019786 "severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia" 1 2 0 0 0 0 UBERON:0001135 "smooth muscle tissue" 0 0 0 0 0 1 CL:0002598 "bronchial smooth muscle cell" 0 1 0 0 0 1 -MONDO:0004272 "urinary bladder tuberculosis" 1 7 0 0 0 1 +MONDO:0004272 "urinary bladder tuberculosis" 1 6 0 0 0 1 NCBITaxon:6657 "Crustacea" 0 1 0 0 0 0 http://identifiers.org/hgnc/17382 "SRGAP1" 0 0 0 0 0 0 http://identifiers.org/hgnc/28844 "FBXO38" 0 0 0 0 0 0 MONDO:0020400 "congenital supravalvular mitral ring" 1 2 0 0 0 0 http://identifiers.org/hgnc/7595 "MYO1A" 0 0 0 0 0 0 -MONDO:0009757 "Niemann-Pick disease, type C1" 1 8 0 0 0 0 +MONDO:0009757 "Niemann-Pick disease, type C1" 1 7 0 0 0 0 MONDO:0015666 "familial idiopathic dilatation of the right atrium" 1 4 0 0 0 0 SO:0001268 "snRNA_gene" 1 0 0 0 0 0 http://identifiers.org/hgnc/14064 "HDAC6" 0 0 0 0 0 0 @@ -14336,7 +14352,7 @@ MONDO:0002425 "rectosigmoid junction cancer" 1 6 0 0 0 1 UBERON:0003405 "lobar bronchus of left lung" 0 0 0 0 0 1 CHEBI:50183 "P450 inhibitor" 1 0 0 0 0 0 UBERON:0001236 "adrenal medulla" 0 0 0 0 0 1 -MONDO:0004649 "anaerobic pneumonia" 1 5 0 0 0 1 +MONDO:0004649 "anaerobic pneumonia" 1 4 0 0 0 1 GO:0051462 "regulation of cortisol secretion" 1 0 0 0 0 1 MONDO:0007268 "hypertrophic cardiomyopathy 4" 1 5 0 0 0 1 MONDO:0021495 "benign neoplasm of sublingual gland" 1 3 0 0 0 1 @@ -14349,9 +14365,9 @@ http://identifiers.org/hgnc/1530 "MICU1" 0 0 0 0 0 0 MONDO:0044794 "benign melanocytic skin nevus" 1 2 0 0 0 0 MONDO:0010634 "jaundice, familial obstructive, of infancy" 0 3 0 0 0 0 MONDO:0020171 "obsolete palpebral tumor" 0 0 0 0 0 0 -MONDO:0018453 "familial atypical multiple mole melanoma syndrome" 0 5 0 0 0 0 +MONDO:0018453 "familial atypical multiple mole melanoma syndrome" 0 4 0 0 0 0 MONDO:0010032 "Sjogren-Larsson-like ichthyosis without CNS or eye involvement" 0 4 0 0 0 0 -MONDO:0013422 "type I complement component 8 deficiency" 1 7 0 0 0 1 +MONDO:0013422 "type I complement component 8 deficiency" 1 6 0 0 0 1 MONDO:0011216 "hemochromatosis type 2A" 1 3 0 0 0 1 MONDO:0010464 "X-linked cerebral-cerebellar-coloboma syndrome syndrome" 1 4 0 0 0 0 MONDO:0012298 "omphalocele, diaphragmatic hernia, and radial ray defects" 0 4 0 0 0 0 @@ -14361,7 +14377,7 @@ http://identifiers.org/hgnc/9175 "POLD1" 0 0 0 0 0 0 UBERON:0018246 "thyroid vein" 0 0 0 0 0 1 MONDO:0004423 "central nervous system extraskeletal osteosarcoma" 1 3 0 0 0 1 MONDO:0010344 "intellectual disability, X-linked 45" 1 3 0 0 0 1 -MONDO:0005279 "pulmonary embolism" 1 10 0 0 0 0 +MONDO:0005279 "pulmonary embolism" 1 9 0 0 0 0 GO:0031175 "neuron projection development" 1 0 0 0 0 1 MONDO:0019673 "postaxial polydactyly type A" 0 11 0 0 0 0 UBERON:0011865 "corneal stroma collagen fibril" 0 0 0 0 0 1 @@ -14378,7 +14394,7 @@ MONDO:0001023 "prolymphocytic leukemia" 1 8 0 0 0 0 MONDO:0018979 "multifocal motor neuropathy" 1 7 0 0 0 0 UBERON:0001676 "occipital bone" 0 0 0 0 0 0 MONDO:0015218 "obsolete syndromic developmental defect of the eye" 1 2 0 0 0 0 -MONDO:0008040 "transient myeloproliferative syndrome" 1 12 0 0 0 0 +MONDO:0008040 "transient myeloproliferative syndrome" 1 11 0 0 0 0 MONDO:0019875 "Beckwith-Wiedemann syndrome due to 11p15 microduplication" 0 3 0 0 0 0 MONDO:0003035 "ovarian angiosarcoma" 1 3 0 0 0 1 MONDO:0001344 "obsolete neonatal diabetes mellitus" 0 0 0 0 0 0 @@ -14396,7 +14412,7 @@ MONDO:0009432 "hypopituitarism, congenital, with central diabetes insipidus" 0 3 UBERON:0002105 "vestibulo-auditory system" 0 0 0 0 0 0 GO:0070470 "plasma membrane respirasome" 1 0 0 0 0 0 MONDO:0020548 "ocular pemphigoid" 1 5 0 0 0 0 -MONDO:0000710 "gastroduodenal Crohn disease" 1 2 0 0 0 1 +MONDO:0000710 "gastroduodenal Crohn disease" 1 1 0 0 0 1 MONDO:0007375 "epithelial basement membrane dystrophy" 0 7 0 0 0 0 MONDO:0001922 "pyoureter" 1 5 0 0 0 0 MONDO:0001707 "cardiac sarcoidosis" 1 4 0 0 0 1 @@ -14406,10 +14422,10 @@ HP:0010762 "Chordoma" 1 4 0 0 0 0 MONDO:0016146 "caveolinopathy" 1 2 0 0 0 0 MONDO:0018443 "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome" 0 3 0 0 0 0 MONDO:0021627 "eyelid capillary hemangioma" 1 3 0 0 0 1 -MONDO:0001371 "protein-energy malnutrition" 1 8 0 0 0 0 +MONDO:0001371 "protein-energy malnutrition" 1 7 0 0 0 0 MONDO:0023157 "fibular hypoplasia scapulo pelvic dysplasia absent" 0 1 0 0 0 0 MONDO:0009845 "pelviscapular dysplasia" 1 7 0 0 0 0 -MONDO:0004975 "Alzheimer disease" 1 22 0 0 0 0 +MONDO:0004975 "Alzheimer disease" 1 21 0 0 0 0 MONDO:0010007 "microbrachycephaly-ptosis-cleft lip syndrome" 1 5 0 0 0 0 MONDO:0012061 "familial sick sinus syndrome" 1 11 0 0 0 1 MONDO:0017219 "microform holoprosencephaly" 1 9 0 0 0 0 @@ -14426,7 +14442,7 @@ MONDO:0016842 "paternal 20q13.2q13.3 microdeletion syndrome" 1 5 0 0 0 0 MONDO:0003241 "central nervous system hemangioma" 1 3 0 0 0 1 GO:0019889 "pteridine metabolic process" 1 0 0 0 0 0 GO:0045835 "negative regulation of meiotic nuclear division" 1 0 0 0 0 1 -MONDO:0010775 "retinitis pigmentosa-deafness syndrome" 1 10 0 0 0 0 +MONDO:0010775 "retinitis pigmentosa-deafness syndrome" 1 9 0 0 0 0 UBERON:0001768 "uvea" 0 0 0 0 0 0 MONDO:0100128 "coinfection" 1 1 0 0 0 0 MONDO:0017715 "3-hydroxyacyl-CoA dehydrogenase deficiency" 0 3 0 0 0 0 @@ -14434,13 +14450,13 @@ GO:1905706 "regulation of mitochondrial ATP synthesis coupled proton transport" http://identifiers.org/hgnc/11142 "SIK1" 0 0 0 0 0 0 GO:0070873 "regulation of glycogen metabolic process" 1 0 0 0 0 1 CHEBI:50249 "anticoagulant" 1 0 0 0 0 0 -MONDO:0002105 "toxic megacolon" 1 7 0 0 0 0 +MONDO:0002105 "toxic megacolon" 1 6 0 0 0 0 MONDO:0019019 "osteogenesis imperfecta" 1 32 0 0 0 0 MONDO:0003559 "obsolete cervical adenosquamous carcinoma" 0 0 0 0 0 0 UBERON:0005399 "male reproductive gland" 0 0 0 0 0 1 -MONDO:0002178 "placenta cancer" 1 7 0 0 0 1 +MONDO:0002178 "placenta cancer" 1 6 0 0 0 1 MONDO:0015853 "deficient breast volume or number" 0 1 0 0 0 0 -MONDO:0001943 "Plasmodium malariae malaria" 1 7 0 0 0 0 +MONDO:0001943 "Plasmodium malariae malaria" 1 6 0 0 0 0 http://identifiers.org/hgnc/11036 "SLC5A1" 0 0 0 0 0 0 http://identifiers.org/hgnc/12771 "CCN6" 0 0 0 0 0 0 MONDO:0018908 "non-Hodgkin lymphoma" 1 10 0 0 0 0 @@ -14460,7 +14476,7 @@ MONDO:0020249 "hereditary optic neuropathy" 0 2 0 0 0 0 MONDO:0010820 "autosomal recessive juvenile Parkinson disease 2" 1 6 0 0 0 1 MONDO:0013116 "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome" 0 6 0 0 0 0 NCBITaxon:1224679 "Diphyllobothriidea" 0 1 0 0 0 0 -MONDO:0012024 "retinitis pigmentosa 26" 1 6 0 0 0 1 +MONDO:0012024 "retinitis pigmentosa 26" 1 5 0 0 0 1 HP:0033836 "Abnormal intrarenal artery morphology" 1 0 0 0 0 0 UBERON:0005853 "sacral spinal cord ventral column" 0 0 0 0 0 1 UBERON:0008408 "distal tubular epithelium" 0 0 0 0 0 1 @@ -14472,7 +14488,7 @@ http://identifiers.org/hgnc/713 "ARSA" 0 0 0 0 0 0 HP:0001760 "Abnormal foot morphology" 1 3 0 0 0 0 MAXO:0000647 "chemotherapy"@en 1 0 0 0 0 0 GO:0002763 "positive regulation of myeloid leukocyte differentiation" 1 0 0 0 0 1 -MONDO:0013722 "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism" 1 5 0 0 0 1 +MONDO:0013722 "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism" 1 4 0 0 0 1 UBERON:0034768 "morphological feature" 0 0 0 0 0 0 CL:1000548 "kidney outer medulla collecting duct epithelial cell" 0 1 0 0 0 1 MONDO:0006708 "Desulfovibrionaceae infectious disease" 1 2 0 0 0 1 @@ -14485,8 +14501,8 @@ GO:0003723 "RNA binding" 1 0 0 0 0 0 MONDO:0022872 "corpus callosum dysgenesis X-linked recessive" 0 1 0 0 0 0 GO:0048732 "gland development" 1 0 0 0 0 0 MONDO:0015969 "obsolete rare genetic thyroid disease" 1 2 0 0 0 0 -MONDO:0012626 "Meckel syndrome, type 4" 1 5 0 0 0 1 -MONDO:0004471 "bacterial arthritis" 1 19 0 0 0 1 +MONDO:0012626 "Meckel syndrome, type 4" 1 4 0 0 0 1 +MONDO:0004471 "bacterial arthritis" 1 17 0 0 0 1 GO:0099094 "ligand-gated cation channel activity" 1 0 0 0 0 0 CHR:9606-chrXp2 "Xp2 (Human)" 0 0 0 0 0 0 MONDO:0700039 "bladder exstrophy-epispadias-cloacal extrophy complex" 1 2 0 0 0 0 @@ -14504,16 +14520,16 @@ GO:0014706 "striated muscle tissue development" 1 0 0 0 0 0 http://identifiers.org/hgnc/11367 "STAT5B" 0 0 0 0 0 0 CL:2000052 "umbilical artery endothelial cell" 1 0 0 0 0 1 UBERON:0001635 "superior cerebellar artery" 0 0 0 0 0 1 -MONDO:0013231 "Leber congenital amaurosis 14" 1 8 0 0 0 1 +MONDO:0013231 "Leber congenital amaurosis 14" 1 7 0 0 0 1 http://identifiers.org/hgnc/714 "ARSB" 0 0 0 0 0 0 -MONDO:0009626 "pseudo-TORCH syndrome" 1 8 0 0 0 0 +MONDO:0009626 "pseudo-TORCH syndrome" 1 9 0 0 0 0 CL:1000391 "melanocyte of eyelid" 1 1 0 0 0 1 MONDO:0100061 "PRPS1 deficiency disorder" 1 0 0 0 0 0 MONDO:0014390 "hypotrichosis 13" 1 4 0 0 0 1 MONDO:0018676 "eosinophilic angiocentric fibrosis" 0 3 0 0 0 0 ENVO:01001138 "carbon dioxide ice"@en 1 0 0 0 0 1 http://identifiers.org/hgnc/5476 "IGFBP7" 0 0 0 0 0 0 -MONDO:0012056 "Leber congenital amaurosis 9" 1 6 0 0 0 1 +MONDO:0012056 "Leber congenital amaurosis 9" 1 5 0 0 0 1 MONDO:0043314 "aquarium granuloma" 1 4 0 0 0 1 UBERON:0009638 "orbitosphenoid ossification center" 0 0 0 0 0 0 http://identifiers.org/hgnc/1932 "CHI3L1" 0 0 0 0 0 0 @@ -14526,7 +14542,7 @@ MONDO:0013127 "asphyxiating thoracic dystrophy 3" 1 9 0 0 0 0 http://identifiers.org/hgnc/11037 "SLC5A2" 0 0 0 0 0 0 GO:0005604 "basement membrane" 1 0 0 0 0 0 CHEBI:17790 "methanol" 1 0 0 0 0 0 -MONDO:0002203 "constipation disorder" 1 9 0 0 0 1 +MONDO:0002203 "constipation disorder" 1 8 0 0 0 1 GO:0032102 "negative regulation of response to external stimulus" 1 0 0 0 0 1 MONDO:0009942 "pyknoachondrogenesis" 1 7 0 0 0 0 MONDO:0011704 "glaucoma 1, open angle, B" 0 1 0 0 0 0 @@ -14542,7 +14558,7 @@ http://identifiers.org/hgnc/10964 "SLC22A18" 0 0 0 0 0 0 PO:0009012 "plant structure development stage" 1 1 0 0 0 0 MONDO:0013845 "auriculocondylar syndrome 2" 1 3 0 0 0 1 MONDO:0016816 "Leigh syndrome with nephrotic syndrome" 0 5 0 0 0 0 -MONDO:0002440 "erythropoietin polycythemia" 1 5 0 0 0 0 +MONDO:0002440 "erythropoietin polycythemia" 1 4 0 0 0 0 NCBITaxon:235 "Brucella abortus" 0 1 0 0 0 0 MONDO:0003506 "pulmonary artery choriocarcinoma" 1 3 0 0 0 1 MONDO:0021158 "gonococcal epididymo-orchitis" 0 2 0 0 0 1 @@ -14551,7 +14567,7 @@ MONDO:0044218 "obsolete beeturia" 0 1 0 0 0 0 MONDO:0021540 "hamartoma of lung" 1 4 0 0 0 1 MONDO:0007558 "benign occipital epilepsy" 1 5 0 0 0 0 ENVO:01000799 "astronomical body"@en 1 0 0 0 0 0 -MONDO:0011242 "Bartter disease type 4a" 1 7 0 0 0 1 +MONDO:0011242 "Bartter disease type 4a" 1 6 0 0 0 1 MONDO:0000321 "typhoidal tularemia" 1 3 0 0 0 0 MONDO:0020263 "obsolete spinocerebellar ataxia with oculomotor anomaly" 0 1 0 0 0 0 MONDO:0005770 "genital herpes" 1 9 0 0 0 1 @@ -14564,7 +14580,7 @@ UBERON:0006909 "lumen of digestive tract" 0 0 0 0 0 1 GO:0042327 "positive regulation of phosphorylation" 1 0 0 0 0 1 UBERON:0034705 "developing neuroepithelium" 0 0 0 0 0 0 MONDO:0010361 "intellectual disability, X-linked 30" 1 3 0 0 0 1 -MONDO:0009067 "cystinuria" 1 15 0 0 0 0 +MONDO:0009067 "cystinuria" 1 14 0 0 0 0 UBERON:0005614 "lens anterior epithelium" 0 0 0 0 0 1 CHEBI:38497 "respiratory-chain inhibitor" 0 0 0 0 0 0 MONDO:0017347 "plasmablastic lymphoma" 1 11 0 0 0 0 @@ -14575,7 +14591,7 @@ UBERON:0007702 "tract of brain" 0 0 0 0 0 1 MONDO:0019574 "secondary intestinal lymphangiectasia" 1 4 0 0 0 0 MONDO:0024650 "drug-induced osteoporosis" 0 2 0 0 0 1 http://identifiers.org/hgnc/5212 "HSD17B3" 0 0 0 0 0 0 -MONDO:0008145 "Ollier disease" 1 14 0 0 0 0 +MONDO:0008145 "Ollier disease" 1 13 0 0 0 0 MONDO:0024336 "vulvar adenocarcinoma" 1 4 0 0 0 1 MONDO:0017539 "obsolete postaxial polydactyly of toes, unilateral" 0 2 0 0 0 0 MONDO:0012891 "pontocerebellar hypoplasia type 2C" 1 5 0 0 0 1 @@ -14588,9 +14604,9 @@ MONDO:0005491 "Chagas cardiomyopathy" 1 4 0 0 0 1 UBERON:0003661 "limb muscle" 0 0 0 0 0 1 http://identifiers.org/hgnc/5213 "HSD17B4" 0 0 0 0 0 0 GO:1903060 "negative regulation of protein lipidation" 1 0 0 0 0 1 -MONDO:0005039 "reproductive system disorder" 1 6 0 0 0 1 +MONDO:0005039 "reproductive system disorder" 1 7 0 0 0 1 MONDO:0016682 "giant cell glioblastoma" 1 7 0 0 0 0 -MONDO:0020128 "motor neuron disorder" 1 11 0 0 0 1 +MONDO:0020128 "motor neuron disorder" 1 10 0 0 0 1 CHR:9606-chr3p25 "3p25 (Human)" 0 0 0 0 0 0 UBERON:0005673 "left lung endothelium" 0 0 0 0 0 1 MONDO:0008422 "autosomal dominant sideroblastic anemia" 1 4 0 0 0 1 @@ -14598,7 +14614,7 @@ GO:0033013 "tetrapyrrole metabolic process" 1 0 0 0 0 0 MONDO:0012198 "PCWH syndrome" 1 7 0 0 0 0 MONDO:0013125 "CLAPO syndrome" 1 6 0 0 0 0 http://identifiers.org/hgnc/15984 "APTX" 0 0 0 0 0 0 -MONDO:0016663 "overlapping connective tissue disease" 0 6 0 0 0 0 +MONDO:0016663 "overlapping connective tissue disease" 0 5 0 0 0 0 MONDO:0017961 "46,XX disorder of gonadal development" 0 2 0 0 0 0 MONDO:0013021 "sterile multifocal osteomyelitis with periostitis and pustulosis" 1 6 0 0 0 0 MONDO:0042980 "Westphal disease" 0 8 0 0 0 0 @@ -14620,7 +14636,7 @@ MONDO:0021804 "silicotuberculosis" 1 4 0 0 0 1 MONDO:0006275 "lung giant cell carcinoma" 1 9 0 0 0 0 GO:0062023 "collagen-containing extracellular matrix" 1 0 0 0 0 0 MONDO:0024912 "cat disease" 1 2 0 0 0 0 -MONDO:0002635 "periodontal disorder" 1 7 0 0 0 1 +MONDO:0002635 "periodontal disorder" 1 6 0 0 0 1 MONDO:0014199 "developmental and epileptic encephalopathy, 17" 1 4 0 0 0 1 MONDO:0004506 "microscopic breast papilloma" 1 3 0 0 0 0 ENVO:00000063 "water body" 1 0 0 0 0 0 @@ -14634,7 +14650,7 @@ MONDO:0007385 "idiopathic spontaneous coronary artery dissection" 0 5 0 0 0 0 MONDO:0019812 "obsolete tricuspid valve prolapse" 0 0 0 0 0 0 MONDO:0010274 "testicular germ cell tumor 1" 0 3 0 0 0 0 NCIT:C165233 "Expression Negative" 0 0 0 0 0 0 -MONDO:0009290 "glycogen storage disease II" 1 12 0 0 0 1 +MONDO:0009290 "glycogen storage disease II" 1 11 0 0 0 1 MONDO:0006830 "leukoplakia of penis" 1 8 0 0 0 1 GO:0031333 "negative regulation of protein-containing complex assembly" 1 0 0 0 0 1 MONDO:0010042 "spastic diplegia and intellectual disability" 0 4 0 0 0 0 @@ -14652,7 +14668,7 @@ UBERON:0007500 "epithelial tube open at both ends" 0 0 0 0 0 0 MONDO:0004743 "hyperhomocysteinemia" 1 8 0 0 0 1 MONDO:0007715 "hemolytic poikilocytic anemia due to reduced ankyrin binding sites" 0 3 0 0 0 0 http://identifiers.org/hgnc/2973 "DNM1L" 0 0 0 0 0 0 -MONDO:0015741 "distal trisomy 18q" 0 2 0 0 0 0 +MONDO:0015741 "distal trisomy 18q" 0 1 0 0 0 0 MONDO:0014146 "autosomal dominant hypocalcemia 2" 1 5 0 0 0 0 MONDO:0100039 "CDKL5 disorder" 1 1 0 0 0 1 GO:0044093 "positive regulation of molecular function" 1 0 0 0 0 1 @@ -14685,7 +14701,7 @@ MONDO:0016596 "hyperphosphatasia-intellectual disability syndrome" 0 10 0 0 0 0 MONDO:0012182 "skeletal dysplasia, rhizomelic, with retinitis pigmentosa" 0 3 0 0 0 0 MONDO:0016616 "oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies" 0 3 0 0 0 0 MONDO:0000688 "inherited organic acidemia" 1 6 0 0 0 1 -MONDO:0004614 "chronic monocytic leukemia" 1 9 0 0 0 1 +MONDO:0004614 "chronic monocytic leukemia" 1 8 0 0 0 1 CHEBI:57756 "sphingosine(1+)" 1 0 0 0 0 0 http://identifiers.org/hgnc/11724 "TEK" 0 0 0 0 0 0 GO:1900046 "regulation of hemostasis" 1 0 0 0 0 1 @@ -14748,7 +14764,7 @@ GO:0005593 "FACIT collagen trimer" 1 0 0 0 0 0 MONDO:0100138 "X-linked recessive mitochondrial myopathy" 1 0 0 0 0 1 MONDO:0100474 "mild ichthyosis vulgaris" 1 0 0 0 0 1 MONDO:0002710 "infiltrating angiolipoma" 1 3 0 0 0 1 -MONDO:0002008 "labyrinthitis" 1 10 0 0 0 1 +MONDO:0002008 "labyrinthitis" 1 9 0 0 0 1 http://identifiers.org/hgnc/10519 "SACS" 0 0 0 0 0 0 UBERON:0011831 "duct of vestibular gland" 0 0 0 0 0 1 http://identifiers.org/hgnc/3584 "FANCC" 0 0 0 0 0 0 @@ -14758,7 +14774,7 @@ http://identifiers.org/hgnc/29182 "CEP164" 0 0 0 0 0 0 MONDO:0020205 "bulbar conjunctival dermoid or conjunctival dermolipoma" 0 1 0 0 0 0 GO:1990204 "oxidoreductase complex" 1 0 0 0 0 0 GO:0051197 "obsolete positive regulation of coenzyme metabolic process" 1 0 0 0 0 0 -MONDO:0008044 "myoclonic dystonia 11" 1 5 0 0 0 1 +MONDO:0008044 "myoclonic dystonia 11" 1 4 0 0 0 1 MONDO:0001194 "obsolete rickettsialpox" 0 0 0 0 0 0 MONDO:0009712 "congenital multicore myopathy with external ophthalmoplegia" 1 7 0 0 0 0 MONDO:0006748 "epilepsia partialis continua" 1 6 0 0 0 0 @@ -14782,7 +14798,7 @@ MONDO:0000527 "colon adenoma" 1 3 0 0 0 1 UBERON:0005076 "hindbrain-spinal cord boundary" 0 0 0 0 0 1 GO:0005766 "primary lysosome" 1 0 0 0 0 0 MONDO:0006872 "obsolete nut allergic reaction" 1 5 0 0 0 0 -MONDO:0019359 "Rocky mountain spotted fever" 1 9 0 0 0 0 +MONDO:0019359 "Rocky mountain spotted fever" 1 8 0 0 0 0 UBERON:0004674 "facial nerve root" 0 0 0 0 0 1 GO:0008585 "female gonad development" 1 0 0 0 0 0 MONDO:0011687 "Charcot-Marie-Tooth disease axonal type 2F" 1 9 0 0 0 1 @@ -14795,7 +14811,7 @@ MONDO:0011967 "heterotopia, periventricular, associated with chromosome 5P anoma HP:0000009 "Functional abnormality of the bladder" 1 1 0 0 0 0 http://identifiers.org/hgnc/32689 "SLFN14" 0 0 0 0 0 0 CHEBI:33232 "application" 1 0 0 0 0 0 -MONDO:0017603 "ALK-negative anaplastic large cell lymphoma" 1 6 0 0 0 0 +MONDO:0017603 "ALK-negative anaplastic large cell lymphoma" 1 5 0 0 0 0 MONDO:0000245 "tinea imbricata" 1 4 0 0 0 1 MONDO:0030434 "epilepsy, idiopathic generalized, susceptibility to, 18" 0 1 0 0 0 0 NCBITaxon:118882 "Brucellaceae" 0 1 0 0 0 0 @@ -14833,7 +14849,7 @@ MONDO:0019104 "Sandifer syndrome" 1 7 0 0 0 0 UBERON:0010700 "phalanx pre-cartilage condensation" 0 0 0 0 0 1 CHR:9606-chr19q13.11 "19q13.11 (Human)" 0 0 0 0 0 0 MONDO:0015479 "submucosal cleft palate" 0 2 0 0 0 0 -MONDO:0014539 "focal segmental glomerulosclerosis 9" 1 4 0 0 0 1 +MONDO:0014539 "focal segmental glomerulosclerosis 9" 1 3 0 0 0 1 HP:0001824 "Weight loss" 1 5 0 0 0 0 MONDO:0020272 "obsolete connective tissue disease with eye involvement" 0 0 0 0 0 0 MONDO:0006233 "gonadal teratoma" 1 3 0 0 0 1 @@ -14850,13 +14866,13 @@ MONDO:0003191 "rete ovarii adenocarcinoma" 1 3 0 0 0 1 NCBITaxon:3749 "Malus" 0 1 0 0 0 0 MONDO:0016012 "diethylstilbestrol syndrome" 1 7 0 0 0 0 GO:1904748 "regulation of apoptotic process involved in development" 1 0 0 0 0 1 -MONDO:0000716 "agraphia" 1 2 0 0 0 0 -MONDO:0005779 "hand, foot and mouth disease" 1 8 0 0 0 0 +MONDO:0000716 "agraphia" 1 1 0 0 0 0 +MONDO:0005779 "hand, foot and mouth disease" 1 7 0 0 0 0 MONDO:0013899 "Weill-Marchesani syndrome 3" 1 3 0 0 0 1 MONDO:0024288 "hyperbilirubinemia" 1 2 0 0 0 1 MONDO:0008648 "ventricular tachycardia, familial" 1 3 0 0 0 1 -MONDO:0012897 "congenital factor XI deficiency" 1 10 0 0 0 1 -MONDO:0005502 "dengue disease" 1 17 0 0 0 1 +MONDO:0012897 "congenital factor XI deficiency" 1 9 0 0 0 1 +MONDO:0005502 "dengue disease" 1 12 0 0 0 1 MONDO:0010590 "FG syndrome 1" 1 4 0 0 0 1 MONDO:0007456 "diarrhea, glucose-stimulated secretory, with common variable immunodeficiency" 0 3 0 0 0 0 MONDO:0100220 "Rajab interstitial lung disease with brain calcifications 2" 0 1 0 0 0 0 @@ -14915,10 +14931,10 @@ MONDO:0014080 "osteosclerotic metaphyseal dysplasia" 0 3 0 0 0 0 MONDO:0002446 "obsolete hemoglobinopathy" 0 0 0 0 0 0 MONDO:0009527 "lipase deficiency, combined" 1 7 0 0 0 0 http://identifiers.org/hgnc/343 "AHCY" 0 0 0 0 0 0 -MONDO:0012665 "cataract 33" 1 7 0 0 0 1 +MONDO:0012665 "cataract 33" 1 6 0 0 0 1 NCBITaxon:11632 "Retroviridae" 0 1 0 0 0 0 MONDO:0016433 "dysmorphism-short stature-deafness-disorder of sex development syndrome" 1 3 0 0 0 0 -MONDO:0010622 "recessive X-linked ichthyosis" 1 11 0 0 0 0 +MONDO:0010622 "recessive X-linked ichthyosis" 1 10 0 0 0 0 MONDO:0018211 "Balint syndrome" 1 4 0 0 0 0 CHEBI:50584 "alkyl alcohol" 1 0 0 0 0 0 UBERON:0012278 "gland of nasal mucosa" 0 0 0 0 0 1 @@ -14927,23 +14943,23 @@ MONDO:0005849 "milk allergic reaction" 1 4 0 0 0 0 UBERON:0010562 "pedal digit 1 mesenchyme" 0 0 0 0 0 1 MONDO:0022936 "de Hauwere Leroy adriaenssens syndrome" 0 2 0 0 0 0 http://identifiers.org/hgnc/24592 "STEAP3" 0 0 0 0 0 0 -MONDO:0005644 "amebiasis" 1 9 0 0 0 0 +MONDO:0005644 "amebiasis" 1 7 0 0 0 0 UBERON:0003890 "Mullerian duct" 0 0 0 0 0 0 -MONDO:0006581 "miliaria rubra" 1 9 0 0 0 0 +MONDO:0006581 "miliaria rubra" 1 7 0 0 0 0 HP:0001322 "obsolete Brain very small" 0 0 0 0 0 0 GO:0002367 "cytokine production involved in immune response" 1 0 0 0 0 1 MONDO:0012005 "growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy" 0 3 0 0 0 0 MONDO:0008445 "delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome" 1 6 0 0 0 0 GO:0071305 "cellular response to vitamin D" 1 0 0 0 0 0 -MONDO:0001792 "epiphora due to insufficient drainage" 0 5 0 0 0 0 +MONDO:0001792 "epiphora due to insufficient drainage" 0 4 0 0 0 0 MONDO:0014425 "obsolete hereditary persistence of alpha-fetoprotein" 1 3 0 0 0 0 MONDO:0003442 "bladder papillary urothelial neoplasm" 1 3 0 0 0 1 MONDO:0002967 "dermatophytosis of scalp or beard" 1 6 0 0 0 1 -MONDO:0013429 "retinitis pigmentosa 40" 1 4 0 0 0 1 +MONDO:0013429 "retinitis pigmentosa 40" 1 3 0 0 0 1 MONDO:0012191 "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" 1 8 0 0 0 1 http://identifiers.org/hgnc/20474 "TMC8" 0 0 0 0 0 0 MONDO:0021431 "squamous cell carcinoma of buccal mucosa" 1 3 0 0 0 1 -MONDO:0002972 "posterior mediastinum cancer" 1 5 0 0 0 1 +MONDO:0002972 "posterior mediastinum cancer" 1 4 0 0 0 1 MONDO:0011119 "iridogoniodysgenesis" 0 2 0 0 0 0 HP:0031348 "Dextrotransposition of the great arteries" 1 2 0 0 0 0 GO:0071696 "ectodermal placode development" 1 0 0 0 0 0 @@ -14953,7 +14969,7 @@ GO:0035235 "ionotropic glutamate receptor signaling pathway" 1 0 0 0 0 0 MONDO:0004361 "adult spinal cord ependymoma" 1 3 0 0 0 1 MONDO:0004275 "osteosarcoma arising in bone Paget disease" 1 4 0 0 0 0 GO:0051048 "negative regulation of secretion" 1 0 0 0 0 1 -MONDO:0004826 "urethral calculus" 1 6 0 0 0 1 +MONDO:0004826 "urethral calculus" 1 5 0 0 0 1 CHEBI:33836 "benzenoid aromatic compound" 0 0 0 0 0 0 UBERON:0005988 "atrium myocardial trabecula" 0 0 0 0 0 1 MONDO:0001410 "postmenopausal atrophic vaginitis" 1 8 0 0 0 0 @@ -14987,7 +15003,7 @@ MONDO:0008137 "orofaciodigital syndrome X" 1 8 0 0 0 0 MONDO:0015114 "obsolete rare parenchymal liver disease" 0 2 0 0 0 0 MONDO:0043479 "adenoviridae infectious disease" 1 4 0 0 0 1 http://identifiers.org/hgnc/3582 "FANCA" 0 0 0 0 0 0 -MONDO:0001067 "early yaws" 1 9 0 0 0 0 +MONDO:0001067 "early yaws" 1 7 0 0 0 0 http://identifiers.org/hgnc/17043 "NIPA1" 0 0 0 0 0 0 UBERON:0007228 "vestibular nucleus" 0 0 0 0 0 1 MONDO:0018772 "Joubert syndrome" 1 22 0 0 0 0 @@ -15027,7 +15043,7 @@ MONDO:0015920 "obsolete syndromic neurometabolic disease with X-linked intellect GO:0006811 "ion transport" 1 0 0 0 0 0 http://identifiers.org/hgnc/29168 "RPGRIP1L" 0 0 0 0 0 0 MONDO:0002448 "laryngeal sarcoma" 1 3 0 0 0 1 -MONDO:0001805 "female breast central part cancer" 0 5 0 0 0 0 +MONDO:0001805 "female breast central part cancer" 0 4 0 0 0 0 http://identifiers.org/hgnc/7067 "CIITA" 0 0 0 0 0 0 MONDO:0005408 "diabetes mellitus type 2 associated cataract" 1 1 0 0 0 1 MONDO:0016105 "acquired skeletal muscle disease" 1 2 0 0 0 1 @@ -15043,11 +15059,11 @@ MONDO:0007047 "punctate palmoplantar keratoderma type III" 1 9 0 0 0 0 MONDO:0006075 "adrenal gland myelolipoma" 1 6 0 0 0 1 MONDO:0014162 "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency" 1 6 0 0 0 1 MONDO:0006941 "rat-bite fever" 1 12 0 0 0 1 -MONDO:0001773 "post-vaccinal encephalitis" 1 5 0 0 0 0 +MONDO:0001773 "post-vaccinal encephalitis" 1 4 0 0 0 0 MONDO:0000625 "benign male reproductive system neoplasm" 1 3 0 0 0 1 GO:0100024 "obsolete regulation of carbohydrate metabolic process by transcription from RNA polymerase II promoter" 1 0 0 0 0 0 http://identifiers.org/hgnc/23159 "ALG2" 0 0 0 0 0 0 -MONDO:0006604 "rosacea" 1 10 0 0 0 0 +MONDO:0006604 "rosacea" 1 9 0 0 0 0 MONDO:0018242 "autoimmune hypoparathyroidism" 1 5 0 0 0 1 MONDO:0003811 "ovarian seromucinous tumor" 1 5 0 0 0 0 UBERON:0035109 "plantar nerve" 0 0 0 0 0 1 @@ -15058,7 +15074,7 @@ MONDO:0000571 "obsolete CD3zeta deficiency" 0 0 0 0 0 0 MONDO:0021124 "female infertility" 1 7 0 0 0 1 http://identifiers.org/hgnc/20626 "CHD7" 0 0 0 0 0 0 MONDO:0003242 "obsolete fibrolamellar carcinoma" 0 0 0 0 0 0 -MONDO:0001849 "chronic orbital inflammation" 0 6 0 0 0 0 +MONDO:0001849 "chronic orbital inflammation" 0 5 0 0 0 0 CL:0000408 "male gamete" 0 2 0 0 0 1 MONDO:0018560 "anterior urethral valve" 0 4 0 0 0 0 MONDO:0014948 "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay" 0 2 0 0 0 0 @@ -15083,7 +15099,7 @@ MONDO:0018698 "hereditary neuroendocrine tumor of small intestine" 1 3 0 0 0 1 UBERON:0018116 "right renal pelvis" 0 0 0 0 0 1 UBERON:0015001 "radius endochondral element" 0 0 0 0 0 1 MONDO:0016311 "Bockenheimer syndrome" 0 4 0 0 0 0 -MONDO:0006823 "Klinefelter syndrome" 1 10 0 0 0 0 +MONDO:0006823 "Klinefelter syndrome" 1 8 0 0 0 0 MONDO:0017183 "hyperinsulinism due to UCP2 deficiency" 1 4 0 0 0 0 HP:0001320 "Cerebellar vermis hypoplasia" 1 1 0 0 0 0 MONDO:0021083 "congenital fibrosis of extraocular muscles type 1" 1 2 0 0 0 1 @@ -15094,7 +15110,7 @@ PATO:0000387 "soft" 1 0 0 0 0 1 MONDO:0024289 "obsolete disorder of bilirubin metabolism" 0 0 0 0 0 0 MONDO:0033560 "mitochondrial complex 1 deficiency, nuclear type 35" 0 1 0 0 0 0 MONDO:0030072 "developmental and epileptic encephalopathy, 88" 0 1 0 0 0 0 -MONDO:0016207 "phacoanaphylactic uveitis" 1 4 0 0 0 0 +MONDO:0016207 "phacoanaphylactic uveitis" 1 3 0 0 0 0 MONDO:0006631 "osteoarthritis, toe" 1 1 0 0 0 0 UBERON:0003695 "metacarpophalangeal joint" 0 0 0 0 0 1 UBERON:0004468 "set of muscles of vertebral column" 0 0 0 0 0 1 @@ -15162,7 +15178,7 @@ MONDO:0011248 "distal monosomy 13q" 1 6 0 0 0 0 MONDO:0042433 "mycotic endocarditis" 1 2 0 0 0 1 UBERON:0005000 "mucosa of common bile duct" 0 0 0 0 0 1 MONDO:0002652 "anus adenocarcinoma" 1 4 0 0 0 1 -MONDO:0010807 "autosomal recessive nonsyndromic hearing loss 2" 1 5 0 0 0 1 +MONDO:0010807 "autosomal recessive nonsyndromic hearing loss 2" 1 4 0 0 0 1 http://identifiers.org/hgnc/20093 "ADSS1" 0 0 0 0 0 0 GO:0032839 "dendrite cytoplasm" 1 0 0 0 0 1 HP:0012700 "Abnormal large intestine physiology" 1 1 0 0 0 0 @@ -15175,7 +15191,7 @@ UBERON:0015807 "ear epithelium" 0 0 0 0 0 1 MONDO:0018580 "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome" 0 4 0 0 0 0 UBERON:0009015 "upper back skin" 0 0 0 0 0 1 MONDO:0037002 "benign phyllodes tumor" 1 2 0 0 0 1 -MONDO:0014618 "retinitis pigmentosa 71" 1 4 0 0 0 1 +MONDO:0014618 "retinitis pigmentosa 71" 1 3 0 0 0 1 MONDO:0016445 "familial anetoderma" 1 5 0 0 0 0 MONDO:0100213 "IFAP syndrome with or without BRESHECK syndrome" 1 6 0 0 0 1 http://identifiers.org/hgnc/10288 "RP9" 0 0 0 0 0 0 @@ -15189,8 +15205,9 @@ UBERON:0000382 "apocrine sweat gland" 0 0 0 0 0 0 MONDO:0003843 "cerebral hemisphere lipoma" 1 3 0 0 0 1 UBERON:0004902 "urogenital sinus epithelium" 0 0 0 0 0 1 MONDO:0008789 "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane" 0 3 0 0 0 0 +MONDO:0008791 "anencephaly 1" 1 5 0 0 0 0 MONDO:0015910 "obsolete rare constitutional hemolytic anemia" 0 2 0 0 0 0 -MONDO:0014237 "autosomal recessive nonsyndromic hearing loss 76" 1 5 0 0 0 1 +MONDO:0014237 "autosomal recessive nonsyndromic hearing loss 76" 1 4 0 0 0 1 HP:0000155 "Oral ulcer" 1 3 0 0 0 0 MONDO:0022468 "antigen-peptide-transporter 2 deficiency" 1 1 0 0 0 0 UBERON:0000349 "limbic system" 0 0 0 0 0 0 @@ -15204,7 +15221,7 @@ MONDO:0003293 "lung leiomyoma" 1 4 0 0 0 1 http://identifiers.org/hgnc/6859 "MAP3K7" 0 0 0 0 0 0 NCBITaxon:138 "Borrelia" 0 12 0 0 0 0 UBERON:0010712 "limb skeleton subdivision" 0 0 0 0 0 1 -MONDO:0004857 "tendinitis" 1 6 0 0 0 1 +MONDO:0004857 "tendinitis" 1 5 0 0 0 1 MONDO:0021389 "neoplasm of aortic body" 1 5 0 0 0 1 GO:0045921 "positive regulation of exocytosis" 1 0 0 0 0 1 GO:0051704 "multi-organism process" 1 0 0 0 0 0 @@ -15217,9 +15234,9 @@ GO:0005584 "collagen type I trimer" 1 0 0 0 0 0 UBERON:0011096 "lacrimal nerve" 0 0 0 0 0 1 MONDO:0016812 "dopa-responsive dystonia" 1 7 0 0 0 1 MONDO:0030353 "Joubert syndrome 38" 0 1 0 0 0 0 -MONDO:0012422 "type 1 diabetes mellitus 19" 1 5 0 0 0 0 +MONDO:0012422 "type 1 diabetes mellitus 19" 1 4 0 0 0 0 MONDO:0007251 "campomelic dysplasia" 1 13 0 0 0 0 -MONDO:0013437 "retinitis pigmentosa 43" 1 4 0 0 0 1 +MONDO:0013437 "retinitis pigmentosa 43" 1 3 0 0 0 1 GO:0045668 "negative regulation of osteoblast differentiation" 1 0 0 0 0 1 CL:0002246 "peripheral blood stem cell" 1 2 0 0 0 1 MONDO:0001770 "gastrin secretion abnormality" 0 4 0 0 0 0 @@ -15232,6 +15249,7 @@ CHEBI:28044 "phenylalanine" 1 0 0 0 0 0 MONDO:0010178 "congenital bilateral aplasia of vas deferens from CFTR mutation" 1 3 0 0 0 0 CL:0000133 "neurectodermal cell" 1 0 0 0 0 0 GO:0070131 "positive regulation of mitochondrial translation" 1 0 0 0 0 1 +MONDO:0008110 "obsolete ocular dominance" 0 1 0 0 0 0 GO:0016787 "hydrolase activity" 1 0 0 0 0 0 MONDO:0042966 "inherited mitral valve disease" 1 1 0 0 0 1 GO:0019627 "urea metabolic process" 1 0 0 0 0 0 @@ -15241,13 +15259,13 @@ http://identifiers.org/hgnc/2230 "COPA" 0 0 0 0 0 0 MONDO:0010953 "Fanconi anemia complementation group E" 1 4 0 0 0 1 http://identifiers.org/hgnc/6109 "IPW" 0 0 0 0 0 0 MONDO:0014273 "microcephaly-thin corpus callosum-intellectual disability syndrome" 1 4 0 0 0 0 -MONDO:0009443 "autosomal recessive congenital ichthyosis 4B" 1 9 0 0 0 0 +MONDO:0009443 "autosomal recessive congenital ichthyosis 4B" 1 8 0 0 0 0 CHEBI:50681 "methotrexate(2-)" 0 0 0 0 0 0 http://identifiers.org/hgnc/28880 "MAGT1" 0 0 0 0 0 0 MONDO:0003726 "apocrine adenosis of breast" 1 3 0 0 0 0 MONDO:0005359 "drug-induced liver injury" 1 3 0 0 0 1 http://identifiers.org/hgnc/16700 "ZFPM2" 0 0 0 0 0 0 -MONDO:0016659 "8p23.1 duplication syndrome" 1 5 0 0 0 1 +MONDO:0016659 "8p23.1 duplication syndrome" 1 4 0 0 0 1 MONDO:0031003 "hypercholanemia, familial, 2" 0 1 0 0 0 0 MONDO:0009170 "endocardial fibroelastosis and coarctation of abdominal aorta" 0 3 0 0 0 0 CHEBI:75381 "EC 1.11.1.* (peroxidases) inhibitor" 1 0 0 0 0 0 @@ -15257,7 +15275,7 @@ MONDO:0016300 "obsolete transposition of the great arteries" 0 0 0 0 0 0 CL:0000339 "glioblast (sensu Vertebrata)" 1 1 0 0 0 0 http://identifiers.org/hgnc/6296 "KCNQ2" 0 0 0 0 0 0 MONDO:0006098 "atypical lobular breast hyperplasia" 1 4 0 0 0 0 -MONDO:0017875 "Bolivian hemorrhagic fever" 1 6 0 0 0 1 +MONDO:0017875 "Bolivian hemorrhagic fever" 1 5 0 0 0 1 MONDO:0016731 "desmoplastic infantile astrocytoma/ganglioglioma" 1 2 0 0 0 0 MONDO:0018342 "Joubert syndrome with Jeune asphyxiating thoracic dystrophy" 1 7 0 0 0 0 HP:0010993 "Abnormality of the cerebral subcortex" 1 1 0 0 0 0 @@ -15281,7 +15299,7 @@ MONDO:0017726 "Tay-Sachs disease, b variant, adult form" 0 3 0 0 0 0 http://identifiers.org/hgnc/3048 "DSG1" 0 0 0 0 0 0 http://identifiers.org/hgnc/3049 "DSG2" 0 0 0 0 0 0 MONDO:0014427 "cone-rod dystrophy 20" 1 3 0 0 0 1 -MONDO:0013469 "retinitis pigmentosa 38" 1 4 0 0 0 1 +MONDO:0013469 "retinitis pigmentosa 38" 1 3 0 0 0 1 MONDO:0009621 "microcephaly-cervical spine fusion anomalies syndrome" 1 7 0 0 0 0 MONDO:0017359 "3-methylglutaconic aciduria" 1 9 0 0 0 0 MONDO:0024630 "defective phagocytic cell chemotaxis" 0 3 0 0 0 1 @@ -15309,14 +15327,14 @@ MONDO:0016042 "late-onset isolated ACTH deficiency" 1 2 0 0 0 0 http://identifiers.org/hgnc/3143 "EBVS1" 0 0 0 0 0 0 CL:0000147 "pigment cell" 1 1 0 0 0 0 UBERON:0015013 "fibula endochondral element" 0 0 0 0 0 1 -MONDO:0024264 "hypothyroidism, congenital, nongoitrous, 2" 1 7 0 0 0 0 +MONDO:0024264 "hypothyroidism, congenital, nongoitrous, 2" 1 6 0 0 0 0 MONDO:0018825 "PYCR2-related microcephaly-progressive leukoencephalopathy" 1 1 0 0 0 0 MONDO:0003459 "cervical adenofibroma" 1 3 0 0 0 0 UBERON:0002323 "coelemic cavity lumen" 0 0 0 0 0 0 CL:0000810 "CD4-positive, alpha-beta thymocyte" 1 0 0 0 0 0 UBERON:0005004 "mucosa of right ureter" 0 0 0 0 0 1 UBERON:0000167 "oral cavity" 0 0 0 0 0 1 -MONDO:0013593 "autosomal dominant nonsyndromic hearing loss 64" 1 4 0 0 0 1 +MONDO:0013593 "autosomal dominant nonsyndromic hearing loss 64" 1 3 0 0 0 1 MONDO:0004404 "refractory precursor T-lymphoblastic lymphoma/leukemia" 1 3 0 0 0 1 UBERON:0003318 "mesenchyme of elbow" 0 0 0 0 0 1 MONDO:0020947 "parasitic eye infection" 1 4 0 0 0 1 @@ -15332,8 +15350,8 @@ NCBITaxon:39824 "Klebsiella granulomatis" 0 2 0 0 0 0 http://identifiers.org/hgnc/30765 "TNIK" 0 0 0 0 0 0 MONDO:0007516 "ectrodactyly and ectodermal dysplasia without cleft lip/palate" 0 4 0 0 0 0 http://identifiers.org/hgnc/186 "ADA" 0 0 0 0 0 0 -MONDO:0005867 "Mycoplasma pneumoniae pneumonia" 1 8 0 0 0 0 -MONDO:0006744 "endolymphatic hydrops" 1 8 0 0 0 0 +MONDO:0005867 "Mycoplasma pneumoniae pneumonia" 1 7 0 0 0 0 +MONDO:0006744 "endolymphatic hydrops" 1 7 0 0 0 0 ECTO:5000000 "exposure to geographic feature" 1 0 0 0 0 0 MONDO:0000730 "obsolete pontocerebellar hypoplasia" 0 0 0 0 0 0 GO:0050309 "sugar-terminal-phosphatase activity" 1 0 0 0 0 0 @@ -15358,7 +15376,7 @@ NCBITaxon:6692 "Pleocyemata" 0 1 0 0 0 0 MONDO:0000066 "mitochondrial complex deficiency" 0 0 0 0 0 0 MONDO:0044235 "obsolete hsr" 0 1 0 0 0 0 MONDO:0010990 "obsolete Cd4/CD8 T-cell ratio" 0 1 0 0 0 0 -MONDO:0012375 "autosomal recessive nonsyndromic hearing loss 47" 1 6 0 0 0 0 +MONDO:0012375 "autosomal recessive nonsyndromic hearing loss 47" 1 5 0 0 0 0 http://identifiers.org/hgnc/6294 "KCNQ1" 0 0 0 0 0 0 MONDO:0014348 "intellectual disability, autosomal recessive 42" 1 2 0 0 0 1 MONDO:0013840 "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome" 1 5 0 0 0 0 @@ -15386,7 +15404,7 @@ MONDO:0002849 "liver rhabdomyosarcoma" 1 3 0 0 0 1 UBERON:0034721 "pharyngeal taste bud" 0 0 0 0 0 1 UBERON:0006052 "digit 5" 0 0 0 0 0 1 MONDO:0015545 "macrophage activation syndrome" 1 8 0 0 0 0 -MONDO:0005382 "bone Paget disease" 1 11 0 0 0 0 +MONDO:0005382 "bone Paget disease" 1 10 0 0 0 0 MONDO:0002735 "anal canal adenocarcinoma" 1 7 0 0 0 1 UBERON:0001259 "mucosa of urinary bladder" 0 0 0 0 0 1 MONDO:0032603 "polydactyly, postaxial, type A9" 0 1 0 0 0 0 @@ -15423,7 +15441,7 @@ MONDO:0002202 "outlet dysfunction constipation" 0 3 0 0 0 0 MONDO:0015607 "partial chromosome Y deletion" 1 8 0 0 0 1 MONDO:0005957 "setariasis" 1 5 0 0 0 1 MONDO:0010678 "muscular dystrophy, progressive Pectorodorsal" 0 3 0 0 0 0 -MONDO:0007844 "hypogonadotropic hypogonadism 2 with or without anosmia" 1 5 0 0 0 1 +MONDO:0007844 "hypogonadotropic hypogonadism 2 with or without anosmia" 1 4 0 0 0 1 CL:0000052 "totipotent stem cell" 1 1 0 0 0 0 MONDO:0017226 "Pelizaeus-Merzbacher-like disease" 1 8 0 0 0 0 UBERON:0006283 "future cardiac ventricle" 0 0 0 0 0 0 @@ -15454,7 +15472,6 @@ GO:0100021 "obsolete regulation of iron ion transport by transcription from RNA MONDO:0020808 "testicular sertoli cell tumor" 1 1 0 0 0 1 UBERON:7500062 "tibial tuberosity" 0 0 0 0 0 1 GO:0009888 "tissue development" 1 0 0 0 0 0 -MONDO:0700130 "partial Trisomy 21" 1 0 0 0 0 1 MONDO:0030894 "AMED syndrome, digenic" 0 1 0 0 0 0 MONDO:0003266 "ependymal tumor" 1 9 0 0 0 1 MONDO:0024533 "pulmonary hypertension, primary, 1" 1 3 0 0 0 1 @@ -15476,9 +15493,9 @@ MONDO:0016060 "laryngotracheoesophageal cleft" 1 7 0 0 0 0 MONDO:0013510 "melanoma, cutaneous malignant, susceptibility to, 6" 0 2 0 0 0 1 HP:0004381 "Supravalvular aortic stenosis" 1 4 0 0 0 0 MONDO:0011722 "intellectual disability-obesity-prognathism-eye and skin anomalies syndrome" 0 5 0 0 0 0 -MONDO:0019877 "distal trisomy 2q" 1 3 0 0 0 0 +MONDO:0019877 "distal trisomy 2q" 1 2 0 0 0 0 GO:2000860 "positive regulation of aldosterone secretion" 1 0 0 0 0 1 -MONDO:0014548 "long QT syndrome 14" 1 6 0 0 0 1 +MONDO:0014548 "long QT syndrome 14" 1 5 0 0 0 1 MONDO:0014044 "dysmorphism-conductive hearing loss-heart defect syndrome" 1 5 0 0 0 0 MONDO:0019818 "cleft mitral valve" 0 2 0 0 0 0 MONDO:0018836 "obsolete subcorneal pustular dermatosis" 0 0 0 0 0 0 @@ -15486,8 +15503,7 @@ MONDO:0000805 "obsolete snail allergy" 1 1 0 0 0 0 MONDO:0011671 "Huntington disease-like 2" 1 7 0 0 0 0 MONDO:0001882 "bacteriuria" 1 6 0 0 0 0 UBERON:0000344 "mucosa" 0 0 0 0 0 0 -MONDO:0001003 "pneumoconiosis due to talc" 1 6 0 0 0 1 -MONDO:0009930 "pulmonary arteriovenous malformation" 1 10 0 0 0 0 +MONDO:0001003 "pneumoconiosis due to talc" 1 5 0 0 0 1 NCBITaxon:52281 "Sarcoptidae" 0 1 0 0 0 0 http://identifiers.org/hgnc/1090 "DST" 0 0 0 0 0 0 http://identifiers.org/hgnc/443 "ALS2" 0 0 0 0 0 0 @@ -15504,7 +15520,7 @@ ECTO:4000031 "exposure to increased water temperature" 1 0 0 0 0 0 CHEBI:50691 "abortifacient" 1 0 0 0 0 0 http://identifiers.org/hgnc/15533 "SPRY4" 0 0 0 0 0 0 MONDO:0017145 "beta-thalassemia and related diseases" 0 3 0 0 0 0 -MONDO:0006519 "rectal cancer" 1 8 0 0 0 1 +MONDO:0006519 "rectal cancer" 1 7 0 0 0 1 GO:0016108 "tetraterpenoid metabolic process" 1 0 0 0 0 0 UBERON:0007303 "pharyngeal vasculature" 0 0 0 0 0 1 HP:0000811 "Abnormal external genitalia" 0 1 0 0 0 0 @@ -15526,11 +15542,11 @@ http://identifiers.org/hgnc/8967 "PIGN" 0 0 0 0 0 0 CL:1001586 "mammary gland glandular cell" 1 1 0 0 0 1 GO:0002687 "positive regulation of leukocyte migration" 1 0 0 0 0 1 MONDO:0010567 "cone dystrophy, X-linked, with tapetal-like sheen" 0 5 0 0 0 0 -MONDO:0001149 "microcephaly" 1 13 0 0 0 0 +MONDO:0001149 "microcephaly" 1 12 0 0 0 0 MONDO:0013209 "non-alcoholic fatty liver disease" 1 11 0 0 0 0 http://identifiers.org/hgnc/6888 "MAPKAPK3" 0 0 0 0 0 0 MONDO:0011506 "familial infantile myoclonic epilepsy" 0 4 0 0 0 0 -MONDO:0004830 "fasciitis" 1 8 0 0 0 1 +MONDO:0004830 "fasciitis" 1 7 0 0 0 1 http://identifiers.org/hgnc/29021 "CEP290" 0 0 0 0 0 0 http://identifiers.org/hgnc/27230 "ESCO2" 0 0 0 0 0 0 http://identifiers.org/hgnc/2185 "COL10A1" 0 0 0 0 0 0 @@ -15559,13 +15575,13 @@ UBERON:8410024 "intestinal junction" 0 0 0 0 0 1 UBERON:0008230 "tibialis" 0 0 0 0 0 0 GO:0010701 "positive regulation of norepinephrine secretion" 1 0 0 0 0 1 CHR:9606-chr8q "8q (Human)" 0 0 0 0 0 0 -MONDO:0017719 "gangliosidosis" 1 8 0 0 0 0 +MONDO:0017719 "gangliosidosis" 1 7 0 0 0 0 MONDO:0015278 "familial pancreatic carcinoma" 1 13 0 0 0 1 MONDO:0003839 "ovarian mucinous adenocarcinofibroma" 1 4 0 0 0 1 MONDO:0000810 "obsolete DMD-related dilated cardiomyopathy" 1 0 0 0 0 0 MONDO:0009897 "adult polyglucosan body disease" 1 6 0 0 0 0 -MONDO:0019962 "thyroid lymphoma" 1 5 0 0 0 1 -MONDO:0004748 "lip disorder" 1 7 0 0 0 1 +MONDO:0019962 "thyroid lymphoma" 1 4 0 0 0 1 +MONDO:0004748 "lip disorder" 1 6 0 0 0 1 MONDO:0019491 "obsolete rare intellectual disability" 1 2 0 0 0 0 MONDO:0009753 "obsolete neurovisceral storage disease with Curvilinear bodies" 0 3 0 0 0 0 MONDO:0100420 "acute myeloid leukemia, KIT gene mutation" 1 1 0 0 0 0 @@ -15581,7 +15597,7 @@ MONDO:0021444 "benign neoplasm of large intestine" 1 3 0 0 0 1 GO:0006956 "complement activation" 1 0 0 0 0 0 CL:0002321 "embryonic cell (metazoa)" 1 4 0 0 0 0 MONDO:0030854 "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1" 0 1 0 0 0 0 -MONDO:0004592 "impetigo" 1 10 0 0 0 0 +MONDO:0004592 "impetigo" 1 8 0 0 0 0 MONDO:0012133 "lateral semicircular canal malformation, familial, with external and middle ear abnormalities" 0 4 0 0 0 0 GO:0007346 "regulation of mitotic cell cycle" 1 0 0 0 0 1 GO:0044851 "hair cycle phase" 1 0 0 0 0 0 @@ -15589,7 +15605,7 @@ CL:0000446 "chief cell of parathyroid gland" 1 3 0 0 0 0 MONDO:0020601 "mosquito-borne viral encephalitis" 1 1 0 0 0 1 MONDO:0007767 "hyperparathyroidism 1" 0 4 0 0 0 0 MONDO:0009536 "chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation" 0 3 0 0 0 0 -MONDO:0019755 "developmental defect during embryogenesis" 1 6 0 0 0 1 +MONDO:0019755 "developmental defect during embryogenesis" 1 8 0 0 0 1 MONDO:0022991 "diploid-triploid mosaicism" 1 5 0 0 0 0 MONDO:0003861 "vulvar eccrine adenocarcinoma" 1 3 0 0 0 1 MONDO:0008037 "myelinated optic nerve fibers" 0 1 0 0 0 0 @@ -15604,6 +15620,7 @@ GO:0006141 "regulation of purine nucleobase metabolic process" 1 0 0 0 0 1 MONDO:0012404 "systemic lupus erythematosus, susceptibility to, 8" 0 1 0 0 0 0 GO:0001775 "cell activation" 1 0 0 0 0 0 NCBITaxon:740973 "Dientamoebidae" 0 1 0 0 0 0 +MONDO:0010705 "obsolete ouabain resistance" 0 1 0 0 0 0 MONDO:0018858 "Graham Little-Piccardi-Lassueur syndrome" 1 6 0 0 0 0 MONDO:0017045 "neuroectodermal-endocrine syndrome" 1 5 0 0 0 0 MONDO:0011640 "genitopatellar syndrome" 1 8 0 0 0 0 @@ -15611,7 +15628,7 @@ MONDO:0003431 "lipoadenoma" 1 4 0 0 0 1 MONDO:0011256 "emphysema, congenital, with deafness, penoscrotal web, and intellectual disability" 0 3 0 0 0 0 MONDO:0010803 "Eiken syndrome" 1 6 0 0 0 0 MONDO:0020201 "obsolete conjunctival telangiectasia" 0 4 0 0 0 0 -MONDO:0007051 "acromegaloid facial appearance syndrome" 1 7 0 0 0 0 +MONDO:0007051 "acromegaloid facial appearance syndrome" 1 6 0 0 0 0 MONDO:0012035 "craniosynostosis-intracranial calcifications syndrome" 1 6 0 0 0 0 MONDO:0100215 "Rajab interstitial lung disease with brain calcifications 1" 0 6 0 0 0 1 UBERON:0034714 "epiphyseal tract" 0 0 0 0 0 1 @@ -15621,20 +15638,18 @@ HP:0002227 "White eyelashes" 1 2 0 0 0 0 MONDO:0013574 "cutis laxa - Marfanoid syndrome" 0 5 0 0 0 0 HP:0032894 "Seizure precipitated by febrile infection" 1 0 0 0 0 0 MONDO:0014569 "lethal congenital contracture syndrome 7" 1 3 0 0 0 1 -MONDO:0019871 "distal trisomy 2p" 1 3 0 0 0 0 +MONDO:0019871 "distal trisomy 2p" 1 2 0 0 0 0 MONDO:0032879 "megabladder, congenital" 0 1 0 0 0 0 MONDO:0030855 "combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2" 0 1 0 0 0 0 UBERON:0004812 "male prepuce epithelium" 0 0 0 0 0 1 -MONDO:0002654 "uterine disorder" 1 8 0 0 0 1 -MONDO:0007317 "chlorpropamide-alcohol flushing" 0 2 0 0 0 0 +MONDO:0002654 "uterine disorder" 1 7 0 0 0 1 HP:0000032 "Abnormality of male external genitalia" 1 1 0 0 0 0 UBERON:0010399 "spleen trabecular artery" 0 0 0 0 0 1 MONDO:0018941 "furuncular myiasis" 1 5 0 0 0 0 http://identifiers.org/hgnc/8965 "PIGK" 0 0 0 0 0 0 -MONDO:0014826 "nucleoside diphosphate-linked moiety X Motif 15 deficiency" 0 2 0 0 0 0 http://identifiers.org/hgnc/8966 "PIGL" 0 0 0 0 0 0 MONDO:0003764 "pediatric leptomeningeal melanoma" 1 3 0 0 0 1 -MONDO:0018092 "Vogt-Koyanagi-Harada disease" 1 13 0 0 0 0 +MONDO:0018092 "Vogt-Koyanagi-Harada disease" 1 11 0 0 0 0 MONDO:0016147 "qualitative or quantitative defects of dystrophin" 0 2 0 0 0 1 MONDO:0018245 "2p21 microdeletion syndrome without cystinuria" 1 3 0 0 0 0 UBERON:0004667 "interventricular septum muscular part" 0 0 0 0 0 1 @@ -15656,7 +15671,7 @@ MONDO:0011720 "spermatogenic failure 3" 1 5 0 0 0 1 MONDO:0019979 "renal hypoplasia, unilateral" 1 2 0 0 0 0 CHEBI:50908 "hepatotoxic agent" 1 0 0 0 0 0 MONDO:0044230 "obsolete epiblepharon of upper 51d" 0 1 0 0 0 0 -MONDO:0000263 "laryngotracheitis" 1 9 0 0 0 1 +MONDO:0000263 "laryngotracheitis" 1 6 0 0 0 1 MONDO:0019633 "relapsing fever" 1 12 0 0 0 0 UBERON:0035831 "costal diaphragm" 0 0 0 0 0 0 MONDO:0008562 "thumb deformity-alopecia-pigmentation anomaly syndrome" 1 5 0 0 0 0 @@ -15671,6 +15686,7 @@ MONDO:0033562 "neurodevelopmental disorder with dysmorphic facies, impaired spee http://identifiers.org/hgnc/18243 "RCBTB1" 0 0 0 0 0 0 GO:0045321 "leukocyte activation" 1 0 0 0 0 0 MONDO:0020133 "posterior fossa malformation" 0 1 0 0 0 0 +MONDO:0100488 "CDH1-related diffuse gastric and lobular breast cancer" 1 0 0 0 0 0 UBERON:0004461 "skeletal musculature of head" 0 0 0 0 0 1 http://identifiers.org/hgnc/9359 "SLC26A5" 0 0 0 0 0 0 http://identifiers.org/hgnc/9155 "PNLIP" 0 0 0 0 0 0 @@ -15691,8 +15707,8 @@ HP:0001433 "Hepatosplenomegaly" 1 2 0 0 0 0 MONDO:0004524 "thyroid gland atypical follicular adenoma" 1 4 0 0 0 0 MONDO:0011872 "Griscelli syndrome type 2" 1 9 0 0 0 1 GO:0006414 "translational elongation" 1 0 0 0 0 0 -MONDO:0011459 "arrhythmogenic right ventricular dysplasia 5" 1 6 0 0 0 1 -MONDO:0001350 "parametrium malignant neoplasm" 1 5 0 0 0 1 +MONDO:0011459 "arrhythmogenic right ventricular dysplasia 5" 1 5 0 0 0 1 +MONDO:0001350 "parametrium malignant neoplasm" 1 4 0 0 0 1 MONDO:0008661 "vitiligo" 1 9 0 0 0 0 UBERON:0012140 "digitopodium region" 0 0 0 0 0 1 HP:0011025 "Abnormal cardiovascular system physiology" 1 1 0 0 0 0 @@ -15703,27 +15719,27 @@ MONDO:0014416 "ACTH-independent macronodular adrenal hyperplasia 2" 1 4 0 0 0 1 MONDO:0013190 "factor XIII, b subunit, deficiency of" 0 3 0 0 0 0 MONDO:0020008 "obsolete rare immune disease" 1 2 0 0 0 0 ENVO:00000134 "permafrost" 1 0 0 0 0 0 -MONDO:0016667 "sickle cell disease associated with an other hemoglobin anomaly" 0 4 0 0 0 0 +MONDO:0016667 "sickle cell disease associated with an other hemoglobin anomaly" 0 3 0 0 0 0 MONDO:0001851 "primary lacrimal atrophy" 0 4 0 0 0 0 MONDO:0043544 "nosocomial infection" 1 5 0 0 0 1 UBERON:4000115 "mineralized bone tissue" 0 0 0 0 0 1 http://identifiers.org/hgnc/30788 "TLE6" 0 0 0 0 0 0 MONDO:0021254 "corpus uteri neoplasm" 1 3 0 0 0 1 MONDO:0005416 "osteoarthritis, knee" 1 2 0 0 0 0 -MONDO:0011159 "autosomal dominant nonsyndromic hearing loss 13" 1 5 0 0 0 1 +MONDO:0011159 "autosomal dominant nonsyndromic hearing loss 13" 1 4 0 0 0 1 MONDO:0018654 "idiopathic dropped head syndrome" 0 2 0 0 0 0 MONDO:0016764 "isolated anophthalmia-microphthalmia syndrome" 1 14 0 0 0 1 http://identifiers.org/hgnc/12559 "UMOD" 0 0 0 0 0 0 MONDO:0006142 "cervical small cell carcinoma" 1 5 0 0 0 1 http://identifiers.org/hgnc/10294 "RPE65" 0 0 0 0 0 0 MONDO:0014941 "arthrogryposis, distal, with impaired proprioception and touch" 0 2 0 0 0 0 -MONDO:0013298 "chromosome 17q21.31 duplication syndrome" 1 7 0 0 0 1 -MONDO:0012355 "autosomal recessive nonsyndromic hearing loss 28" 1 6 0 0 0 1 -MONDO:0001983 "peripheral degeneration of cornea" 0 5 0 0 0 0 +MONDO:0013298 "chromosome 17q21.31 duplication syndrome" 1 6 0 0 0 1 +MONDO:0012355 "autosomal recessive nonsyndromic hearing loss 28" 1 5 0 0 0 1 +MONDO:0001983 "peripheral degeneration of cornea" 0 4 0 0 0 0 UBERON:0005108 "metanephric epithelium" 0 0 0 0 0 1 MONDO:0014946 "Sifrim-Hitz-Weiss syndrome" 0 2 0 0 0 0 CHEBI:33635 "polycyclic compound" 0 0 0 0 0 0 -MONDO:0007526 "Ehlers-Danlos syndrome, spondylodysplastic type" 1 8 0 0 0 0 +MONDO:0007526 "Ehlers-Danlos syndrome, spondylodysplastic type" 1 9 0 0 0 0 UBERON:0007827 "external nose" 0 0 0 0 0 1 MONDO:0016908 "partial monosomy of the long arm of chromosome 9" 0 2 0 0 0 1 http://identifiers.org/hgnc/4208 "GCSH" 0 0 0 0 0 0 @@ -15739,7 +15755,7 @@ MONDO:0032697 "neurodevelopmental disorder and language delay with or without st http://identifiers.org/hgnc/21478 "RFX6" 0 0 0 0 0 0 UBERON:0004119 "endoderm-derived structure" 0 0 0 0 0 1 MONDO:0016868 "partial deletion of chromosome 3" 0 2 0 0 0 1 -MONDO:0010765 "46,XY complete gonadal dysgenesis" 1 23 0 0 0 0 +MONDO:0010765 "46,XY complete gonadal dysgenesis" 1 22 0 0 0 0 GO:1905787 "regulation of detection of mechanical stimulus involved in sensory perception of touch" 1 0 0 0 0 1 UBERON:0006068 "bone of tail" 0 0 0 0 0 1 MONDO:0004342 "obsolete osteoclast-like giant cell neoplasm of the pancreas" 0 0 0 0 0 0 @@ -15760,7 +15776,7 @@ MONDO:0005527 "toxic encephalopathy" 1 9 0 0 0 0 MONDO:0016867 "partial deletion of chromosome 2" 0 2 0 0 0 1 UBERON:0005036 "mucosa of main bronchus" 0 0 0 0 0 1 MONDO:0032651 "fibrosis, neurodegeneration, and cerebral angiomatosis" 0 1 0 0 0 0 -MONDO:0001320 "ring staphyloma" 0 5 0 0 0 0 +MONDO:0001320 "ring staphyloma" 0 4 0 0 0 0 MONDO:0014391 "severe combined immunodeficiency due to CTPS1 deficiency" 1 5 0 0 0 0 MONDO:0011046 "short stature, Brussels type" 1 7 0 0 0 0 MONDO:0003436 "obsolete lung oat cell carcinoma" 0 0 0 0 0 0 @@ -15777,7 +15793,7 @@ MONDO:0003762 "malignant leptomeningeal tumor" 1 3 0 0 0 1 UBERON:0004401 "bone tissue of distal epiphysis" 0 0 0 0 0 1 MONDO:0005635 "adenomyoma" 1 6 0 0 0 0 NCBITaxon:53550 "Culicini" 0 1 0 0 0 0 -MONDO:0011460 "arrhythmogenic right ventricular dysplasia 6" 1 6 0 0 0 0 +MONDO:0011460 "arrhythmogenic right ventricular dysplasia 6" 1 5 0 0 0 0 MONDO:0009194 "immunodeficiency 32B" 1 5 0 0 0 0 MONDO:0031012 "autoimmune uveitis" 1 1 0 0 0 1 UBERON:0003372 "pectoral appendage bud ectoderm" 0 0 0 0 0 1 @@ -15797,7 +15813,7 @@ MONDO:0010316 "FG syndrome 3" 0 4 0 0 0 0 MONDO:0100005 "primary mast cell activation syndrome" 1 0 0 0 0 0 CHR:9606-chrXp11.3 "Xp11.3 (Human)" 0 0 0 0 0 0 UBERON:0001782 "pigmented layer of retina" 0 0 0 0 0 1 -MONDO:0007342 "clubfoot" 1 11 0 0 0 0 +MONDO:0007342 "clubfoot" 1 9 0 0 0 0 NCBITaxon:52564 "Oesophagostomum" 0 1 0 0 0 0 MONDO:0012900 "cardiomyopathy, familial restrictive, 3" 1 5 0 0 0 1 MONDO:0019653 "familial idiopathic steroid-resistant nephrotic syndrome with minimal changes" 0 3 0 0 0 0 @@ -15829,7 +15845,7 @@ MONDO:0009397 "neonatal severe primary hyperparathyroidism" 1 8 0 0 0 0 GO:0098657 "import into cell" 1 0 0 0 0 0 MONDO:0019273 "obsolete porokeratosis" 0 0 0 0 0 0 CL:0002264 "type A cell of stomach" 1 1 0 0 0 1 -MONDO:0014871 "retinitis pigmentosa 75" 1 4 0 0 0 1 +MONDO:0014871 "retinitis pigmentosa 75" 1 3 0 0 0 1 CHEBI:37838 "carboacyl group" 1 0 0 0 0 0 MONDO:0015994 "muscular dystrophy-white matter spongiosis syndrome" 0 4 0 0 0 0 MONDO:0004152 "chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation" 1 3 0 0 0 0 @@ -15862,11 +15878,11 @@ MONDO:0008874 "Bangstad syndrome" 1 8 0 0 0 0 http://identifiers.org/hgnc/904 "AXIN2" 0 0 0 0 0 0 MONDO:0041295 "acute papillary necrosis" 1 1 0 0 0 1 NCBITaxon:36734 "Unikaryonidae" 0 1 0 0 0 0 -MONDO:0012196 "autosomal dominant auditory neuropathy 1" 1 5 0 0 0 1 +MONDO:0012196 "autosomal dominant auditory neuropathy 1" 1 4 0 0 0 1 GO:0003674 "molecular_function" 1 0 0 0 0 0 MONDO:0016858 "blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome" 1 4 0 0 0 0 MONDO:0002442 "long QT syndrome" 1 11 0 0 0 0 -MONDO:0007500 "ear malformation" 0 4 0 0 0 0 +MONDO:0007500 "ear malformation" 0 5 0 0 0 0 MONDO:0002457 "Treacher-Collins syndrome" 1 13 0 0 0 0 CL:0000738 "leukocyte" 1 3 0 0 0 1 MONDO:0032751 "arthrogryposis, distal, type 2B3" 0 2 0 0 0 0 @@ -15878,7 +15894,7 @@ MONDO:0004360 "breast extraskeletal osteosarcoma" 1 3 0 0 0 1 MONDO:0023141 "obsolete antihypertensive drugs antenatal exposure syndrome" 0 1 0 0 0 0 MONDO:0009062 "cystic fibrosis-gastritis-megaloblastic anemia syndrome" 1 5 0 0 0 0 MONDO:0023543 "Katsantoni-Papadakou-Lagoyanni syndrome" 0 3 0 0 0 0 -MONDO:0001246 "typhus" 1 16 0 0 0 0 +MONDO:0001246 "typhus" 1 15 0 0 0 0 MONDO:0011401 "Alzheimer disease without neurofibrillary tangles" 0 9 0 0 0 0 MONDO:0005136 "malaria" 1 27 0 0 0 0 NCBITaxon:5207 "Cryptococcus neoformans" 0 1 0 0 0 0 @@ -15919,7 +15935,7 @@ UBERON:0004691 "bulbourethral gland secretion" 0 0 0 0 0 1 NCBITaxon:53469 "Ancylostomatinae" 0 1 0 0 0 0 http://identifiers.org/hgnc/25356 "SPRTN" 0 0 0 0 0 0 NCBITaxon:1789 "Mycobacterium xenopi" 0 3 0 0 0 0 -MONDO:0100096 "COVID-19" 1 8 0 0 0 1 +MONDO:0100096 "COVID-19" 1 7 0 0 0 1 http://identifiers.org/hgnc/10274 "RP2" 0 0 0 0 0 0 MONDO:0017001 "obsolete X chromosome number anomaly with male phenotype" 0 1 0 0 0 0 MONDO:0014078 "platelet-type bleeding disorder 15" 1 4 0 0 0 1 @@ -15936,15 +15952,15 @@ MONDO:0008213 "pectus excavatum" 1 5 0 0 0 0 FOODON:03411142 "aquatic invertebrate animal (excluding shellfish)"@en 1 0 0 0 0 1 MONDO:0000878 "cytomegalovirus retinitis" 1 7 0 0 0 1 UBERON:0002167 "right lung" 0 0 0 0 0 1 -MONDO:0005374 "bone marrow neoplasm" 1 8 0 0 0 1 +MONDO:0005374 "bone marrow neoplasm" 1 7 0 0 0 1 http://identifiers.org/hgnc/23405 "LRMDA" 0 0 0 0 0 0 GO:0072348 "sulfur compound transport" 1 0 0 0 0 0 -MONDO:0001452 "pseudoretinitis pigmentosa" 0 6 0 0 0 0 +MONDO:0001452 "pseudoretinitis pigmentosa" 0 5 0 0 0 0 GO:0034761 "positive regulation of iron ion transmembrane transport" 1 0 0 0 0 1 MONDO:0006224 "gastric hamartomatous polyp" 1 4 0 0 0 1 MONDO:0020150 "obsolete obsolete rare palpebral, lacrimal system and conjunctival disease" 0 0 0 0 0 0 GO:1903011 "negative regulation of bone development" 1 0 0 0 0 1 -MONDO:0018102 "corneal dystrophy" 1 12 0 0 0 0 +MONDO:0018102 "corneal dystrophy" 1 10 0 0 0 0 GO:1901661 "quinone metabolic process" 1 0 0 0 0 0 UBERON:0005362 "vagus X ganglion" 0 0 0 0 0 1 MONDO:0007668 "globulin anomaly involving beta (2A)-globulin" 0 3 0 0 0 0 @@ -15960,14 +15976,14 @@ CHEBI:35344 "21-hydroxy steroid" 0 0 0 0 0 0 UBERON:0005845 "caudal segment of spinal cord" 0 0 0 0 0 1 UBERON:0001292 "distal convoluted tubule" 0 0 0 0 0 0 MONDO:0007617 "Coffin-Siris syndrome 1" 1 11 0 0 0 0 -MONDO:0006920 "prediabetes syndrome" 1 7 0 0 0 0 +MONDO:0006920 "prediabetes syndrome" 1 6 0 0 0 0 MONDO:0000671 "finger agnosia" 1 2 0 0 0 1 MONDO:0019785 "obsolete 15q24 microdeletion syndrome" 0 0 0 0 0 0 MONDO:0044254 "obsolete dermatoglyphics--hypothenar radial arch" 0 1 0 0 0 0 http://identifiers.org/hgnc/4878 "HEXA" 0 0 0 0 0 0 http://identifiers.org/hgnc/17944 "EXOSC3" 0 0 0 0 0 0 http://identifiers.org/hgnc/4879 "HEXB" 0 0 0 0 0 0 -MONDO:0015299 "Asherman syndrome" 0 7 0 0 0 0 +MONDO:0015299 "Asherman syndrome" 0 6 0 0 0 0 MONDO:0003584 "visual cortex disorder" 1 6 0 0 0 1 UBERON:0016400 "infrapatellar fat pad" 0 0 0 0 0 1 MONDO:0002395 "renal adenoma" 1 3 0 0 0 0 @@ -15994,7 +16010,7 @@ PO:0009086 "endocarp" 1 2 0 0 0 0 UBERON:0008816 "embryonic head" 0 0 0 0 0 1 MONDO:0011662 "pathological gambling" 1 8 0 0 0 0 MONDO:0000534 "trachea mucoepidermoid carcinoma" 1 3 0 0 0 1 -MONDO:0005831 "lymph node tuberculosis" 1 6 0 0 0 1 +MONDO:0005831 "lymph node tuberculosis" 1 5 0 0 0 1 MONDO:0003544 "spinal cord cancer" 1 8 0 0 0 1 MONDO:0006268 "liver diffuse large B-cell lymphoma" 1 3 0 0 0 1 NCBITaxon:42113 "Clitellata" 0 1 0 0 0 0 @@ -16008,7 +16024,7 @@ UBERON:0001027 "sensory nerve" 0 0 0 0 0 0 UBERON:0009570 "spinal cord sulcus limitans" 0 0 0 0 0 1 CHR:9606-chr1 "chromosome 1 (Human)" 0 0 0 0 0 0 MONDO:0016073 "syndromic microphthalmia" 1 4 0 0 0 1 -MONDO:0001834 "visual pathway disorder" 1 6 0 0 0 1 +MONDO:0001834 "visual pathway disorder" 1 7 0 0 0 1 MONDO:0009777 "Oliver syndrome" 1 7 0 0 0 0 MONDO:0009719 "familial atrial myxoma" 0 7 0 0 0 0 UBERON:0015081 "proximal tarsal endochondral element" 0 0 0 0 0 1 @@ -16027,7 +16043,7 @@ GO:0050912 "detection of chemical stimulus involved in sensory perception of tas MONDO:0003127 "obsolete embryoma" 0 0 0 0 0 0 MONDO:0008268 "polydactyly-myopia syndrome" 1 7 0 0 0 0 MONDO:0003104 "epicardium cancer" 1 6 0 0 0 1 -MONDO:0005837 "mandibular cancer" 1 7 0 0 0 1 +MONDO:0005837 "mandibular cancer" 1 6 0 0 0 1 MONDO:0019588 "hearing loss, autosomal recessive" 1 89 0 0 0 1 MONDO:0100457 "achalasia, familial esophageal" 1 2 0 0 0 1 MONDO:0000060 "microcephalic osteodysplastic primordial dwarfism" 0 1 0 0 0 0 @@ -16043,11 +16059,11 @@ http://identifiers.org/hgnc/26348 "SEPTIN12" 0 0 0 0 0 0 UBERON:0001294 "inner medulla of kidney" 0 0 0 0 0 0 GO:0003105 "negative regulation of glomerular filtration" 1 0 0 0 0 1 MONDO:0018852 "achromatopsia" 1 15 0 0 0 0 -MONDO:0013447 "retinitis pigmentosa 48" 1 4 0 0 0 1 +MONDO:0013447 "retinitis pigmentosa 48" 1 3 0 0 0 1 ENVO:01000274 "slate" 1 0 0 0 0 0 MONDO:0032889 "Poirier-Bienvenu neurodevelopmental syndrome" 0 1 0 0 0 0 HP:0000554 "Uveitis" 1 3 0 0 0 0 -MONDO:0009482 "hypogonadotropic hypogonadism 3 with or without anosmia" 1 6 0 0 0 1 +MONDO:0009482 "hypogonadotropic hypogonadism 3 with or without anosmia" 1 5 0 0 0 1 UBERON:0010253 "1st arch maxillary mesenchyme from neural crest" 0 0 0 0 0 1 GO:0002539 "prostaglandin production involved in inflammatory response" 1 0 0 0 0 0 MONDO:0100189 "apolipoprotein A-I deficiency" 1 1 0 0 0 0 @@ -16057,6 +16073,7 @@ MONDO:0010533 "Arts syndrome" 1 9 0 0 0 0 MONDO:0008438 "hereditary spastic paraplegia 4" 1 10 0 0 0 1 GO:0042221 "response to chemical" 1 0 0 0 0 0 MONDO:0002615 "xanthomatosis" 1 4 0 0 0 0 +MONDO:0016999 "obsolete X chromosome number anomaly" 0 1 0 0 0 0 MONDO:0008144 "obsolete osteochondritis dissecans" 0 0 0 0 0 0 MONDO:0033352 "neuropathy, congenital hypomelinating" 0 1 0 0 0 0 MONDO:0030012 "Diets-Jongmans syndrome" 0 1 0 0 0 0 @@ -16069,7 +16086,7 @@ MONDO:0017089 "isolated megalencephaly" 1 2 0 0 0 1 MONDO:0016866 "partial deletion of chromosome 1" 0 2 0 0 0 1 MONDO:0024990 "swine disease" 1 2 0 0 0 0 http://identifiers.org/hgnc/16905 "KLHL41" 0 0 0 0 0 0 -MONDO:0003072 "retinal cancer" 1 8 0 0 0 1 +MONDO:0003072 "retinal cancer" 1 7 0 0 0 1 MONDO:0019480 "Langerhans cell sarcoma" 1 11 0 0 0 1 MONDO:0100419 "acute myeloid leukemia, KIT exon 8 mutation" 1 1 0 0 0 0 MONDO:0020816 "miliaria papulosa" 0 1 0 0 0 0 @@ -16117,14 +16134,13 @@ MONDO:0013609 "Meckel syndrome, type 10" 1 6 0 0 0 1 MONDO:0002418 "ethmoid sinus adenocarcinoma" 1 3 0 0 0 1 MONDO:0100436 "cataract 2, multiple types" 1 2 0 0 0 0 UBERON:0036328 "wall of coronary artery" 0 0 0 0 0 1 -MONDO:0020057 "uniparental disomy of paternal origin" 0 3 0 0 0 0 MONDO:0008722 "short chain acyl-CoA dehydrogenase deficiency" 1 8 0 0 0 1 MONDO:0018326 "transient neonatal myasthenia gravis" 1 4 0 0 0 0 MONDO:0020478 "Leber plus disease" 1 8 0 0 0 0 MONDO:0000936 "syphilitic meningitis" 1 6 0 0 0 1 -MONDO:0010817 "autosomal dominant nonsyndromic hearing loss 2A" 1 5 0 0 0 1 +MONDO:0010817 "autosomal dominant nonsyndromic hearing loss 2A" 1 4 0 0 0 1 MONDO:0017900 "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency" 1 4 0 0 0 0 -MONDO:0012979 "primary ciliary dyskinesia 12" 1 5 0 0 0 1 +MONDO:0012979 "primary ciliary dyskinesia 12" 1 4 0 0 0 1 MONDO:0007702 "heart-hand syndrome type 3" 1 7 0 0 0 0 MONDO:0004791 "obsolete lipid storage disease" 0 0 0 0 0 0 MONDO:0100031 "adolescent/adult onset autosomal dominant epilepsy with auditory features" 1 0 0 0 0 0 @@ -16133,7 +16149,7 @@ MONDO:0020166 "obsolete telecanthus" 0 0 0 0 0 0 MONDO:0009639 "obsolete mitochondrial myopathy with lactic acidosis" 0 0 0 0 0 0 GO:0007586 "digestion" 1 0 0 0 0 0 MONDO:0006135 "cervical clear cell adenocarcinoma" 1 5 0 0 0 1 -MONDO:0019200 "retinitis pigmentosa" 1 94 0 0 0 0 +MONDO:0019200 "retinitis pigmentosa" 1 93 0 0 0 0 MONDO:0002153 "telogen effluvium" 1 6 0 0 0 0 MONDO:0002256 "cervix disorder" 1 5 0 0 0 1 UBERON:0001898 "hypothalamus" 0 0 0 0 0 0 @@ -16151,7 +16167,7 @@ MONDO:0006955 "rheumatic heart disease" 1 9 0 0 0 0 NCBITaxon:52282 "Sarcoptes" 0 1 0 0 0 0 MONDO:0016282 "rhabdomyosarcoma of the cervix uteri" 1 9 0 0 0 1 MONDO:0000788 "obsolete fish allergy" 1 1 0 0 0 0 -MONDO:0006820 "kidney cortex necrosis" 1 7 0 0 0 0 +MONDO:0006820 "kidney cortex necrosis" 1 6 0 0 0 0 MONDO:0009767 "oculocerebral hypopigmentation syndrome, Cross type" 1 6 0 0 0 0 MONDO:0000579 "obsolete coronin-1A deficiency" 0 0 0 0 0 0 MONDO:0009616 "microcephalic primordial dwarfism, Toriello type" 1 7 0 0 0 0 @@ -16162,14 +16178,14 @@ MONDO:0010108 "testicular germ cell tumor" 1 19 0 0 0 1 UBERON:0014400 "hepatic sinusoidal space" 0 0 0 0 0 1 MONDO:0016850 "atypical Norrie disease due to monosomy Xp11.3" 1 5 0 0 0 0 NCBITaxon:1314886 "Neobalantidium" 0 1 0 0 0 0 -MONDO:0012978 "primary ciliary dyskinesia 11" 1 5 0 0 0 1 +MONDO:0012978 "primary ciliary dyskinesia 11" 1 4 0 0 0 1 http://identifiers.org/hgnc/10419 "RPS29" 0 0 0 0 0 0 http://identifiers.org/hgnc/10418 "RPS28" 0 0 0 0 0 0 MONDO:0001401 "female breast nipple and areola cancer" 0 4 0 0 0 0 MONDO:0011723 "hemifacial myohyperplasia" 1 7 0 0 0 0 GO:0060548 "negative regulation of cell death" 1 0 0 0 0 1 UBERON:0019267 "gray matter of midbrain" 0 0 0 0 0 1 -MONDO:0004980 "atopic eczema" 1 12 0 0 0 1 +MONDO:0004980 "atopic eczema" 1 10 0 0 0 1 ENVO:01001239 "forest canopy"@en 0 0 0 0 0 0 MONDO:0007869 "Kyrle disease" 1 5 0 0 0 0 MONDO:0014715 "primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection" 1 5 0 0 0 0 @@ -16197,10 +16213,10 @@ MONDO:0045028 "obsolete radiation or chemically induced disorder" 1 0 0 0 0 0 UBERON:0010686 "manual digit phalanx cartilage element" 0 0 0 0 0 1 MONDO:0020513 "spermatocytic seminoma" 1 8 0 0 0 0 MONDO:0014629 "autoimmune interstitial lung disease-arthritis syndrome" 1 4 0 0 0 0 -MONDO:0001815 "extrapyramidal and movement disease" 0 5 0 0 0 0 +MONDO:0001815 "extrapyramidal and movement disease" 0 4 0 0 0 0 MONDO:0001958 "obsolete autosomal dominant cerebellar ataxia" 0 0 0 0 0 0 UBERON:0008874 "pulmonary acinus" 0 0 0 0 0 0 -MONDO:0008685 "Wolff-Parkinson-white syndrome" 1 9 0 0 0 0 +MONDO:0008685 "Wolff-Parkinson-white syndrome" 1 8 0 0 0 0 CHR:9606-chr10q22.3-q23.3 "10q22.3-q23.3 (Human)" 0 0 0 0 0 0 SO:0001059 "sequence_alteration" 1 0 0 0 0 0 UBERON:0012281 "perianal sebaceous gland" 0 0 0 0 0 1 @@ -16216,8 +16232,8 @@ MONDO:0015731 "high anorectal malformation" 1 5 0 0 0 0 MONDO:0013508 "myopia 19, autosomal dominant" 0 2 0 0 0 0 MONDO:0009359 "multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome" 0 5 0 0 0 0 MONDO:0009181 "epidermolysis bullosa simplex 5B, with muscular dystrophy" 1 8 0 0 0 0 -MONDO:0002253 "spondylosis" 1 8 0 0 0 0 -MONDO:0011847 "migraine without aura, susceptibility to, 4" 1 5 0 0 0 0 +MONDO:0002253 "spondylosis" 1 7 0 0 0 0 +MONDO:0011847 "migraine without aura, susceptibility to, 4" 1 3 0 0 0 0 GO:0007517 "muscle organ development" 1 0 0 0 0 0 MONDO:0017822 "mixed functioning pituitary adenoma" 0 3 0 0 0 0 MONDO:0022712 "oculo digital syndrome" 0 3 0 0 0 0 @@ -16231,15 +16247,15 @@ GO:0033001 "Fc-gamma receptor III complex" 1 0 0 0 0 0 GO:0015844 "monoamine transport" 1 0 0 0 0 0 MONDO:0018181 "staphylococcal scalded skin syndrome" 1 12 0 0 0 0 MONDO:0008635 "uterine anomalies" 0 2 0 0 0 0 -MONDO:0006865 "necrotizing ulcerative gingivitis" 1 9 0 0 0 0 -MONDO:0010110 "tetraamelia-multiple malformations syndrome" 1 6 0 0 0 0 +MONDO:0006865 "necrotizing ulcerative gingivitis" 1 8 0 0 0 0 +MONDO:0010110 "tetraamelia-multiple malformations syndrome" 1 7 0 0 0 0 MONDO:0006647 "anterior cerebral artery infarction" 1 4 0 0 0 0 MONDO:0017523 "polydactyly of a biphalangeal thumb, unilateral" 0 3 0 0 0 0 MONDO:0012503 "thiopurine S-methyltransferase deficiency" 1 7 0 0 0 1 NCBITaxon:693995 "Coronavirinae" 0 1 0 0 0 0 MONDO:0019591 "panhypopituitarism" 1 10 0 0 0 0 GO:0048199 "vesicle targeting, to, from or within Golgi" 1 0 0 0 0 0 -MONDO:0005264 "transient ischemic attack" 1 10 0 0 0 1 +MONDO:0005264 "transient ischemic attack" 1 9 0 0 0 1 MONDO:0013346 "obsolete brain calcification, Rajab type" 0 0 0 0 0 0 MONDO:0014262 "Rienhoff syndrome" 1 5 0 0 0 0 MONDO:0016949 "partial duplication of the short arm of chromosome 16" 1 3 0 0 0 1 @@ -16247,7 +16263,7 @@ MONDO:0015455 "gonococcal conjunctivitis" 1 7 0 0 0 1 http://identifiers.org/hgnc/7461 "MT-ND5" 0 0 0 0 0 0 MONDO:0100446 "CNGB3-related retinopathy" 1 0 0 0 0 0 MONDO:0024627 "phagocytic cell dysfunction" 0 2 0 0 0 1 -MONDO:0009696 "juvenile myoclonic epilepsy" 1 21 0 0 0 0 +MONDO:0009696 "juvenile myoclonic epilepsy" 1 22 0 0 0 0 CL:0002351 "progenitor cell of endocrine pancreas" 1 0 0 0 0 0 MONDO:0002550 "hypoglossal nerve neoplasm" 1 5 0 0 0 1 GO:0030198 "extracellular matrix organization" 1 0 0 0 0 0 @@ -16258,7 +16274,7 @@ MONDO:0015885 "obsolete rare insulin-resistance syndrome" 1 3 0 0 0 0 MONDO:0032874 "ciliary dyskinesia, primary, 43" 0 1 0 0 0 0 http://identifiers.org/hgnc/10414 "RPS26" 0 0 0 0 0 0 UBERON:0012141 "manual digitopodium region" 0 0 0 0 0 1 -MONDO:0018199 "new-onset refractory status epilepticus" 1 3 0 0 0 0 +MONDO:0018199 "new-onset refractory status epilepticus" 1 2 0 0 0 0 UBERON:0007845 "regular connective tissue" 0 0 0 0 0 0 UBERON:0004734 "gastrula" 0 0 0 0 0 1 MONDO:0016001 "2-hydroxyglutaric aciduria" 1 9 0 0 0 0 @@ -16277,7 +16293,7 @@ HP:0000982 "Palmoplantar keratoderma" 1 3 0 0 0 0 http://identifiers.org/hgnc/6055 "IMPG1" 0 0 0 0 0 0 MONDO:0008070 "nemaline myopathy 3" 1 8 0 0 0 1 MONDO:0024337 "urothelial neoplasm" 1 2 0 0 0 1 -MONDO:0021166 "inflammatory disease" 1 4 0 0 0 1 +MONDO:0021166 "inflammatory disease" 1 5 0 0 0 1 http://identifiers.org/hgnc/3257 "EIF2B1" 0 0 0 0 0 0 MONDO:0020613 "obsolete blood group--lke" 0 1 0 0 0 0 MONDO:0032872 "ciliary dyskinesia, primary, 42" 0 1 0 0 0 0 @@ -16286,8 +16302,8 @@ http://identifiers.org/hgnc/7462 "MT-ND6" 0 0 0 0 0 0 ECTO:9001813 "exposure to amphiprotic solvent" 1 0 0 0 0 1 UBERON:0001954 "Ammon's horn" 0 0 0 0 0 0 MONDO:0001953 "pyuria" 1 4 0 0 0 0 -MONDO:0004967 "acute lymphoblastic leukemia" 1 24 0 0 0 1 -MONDO:0016036 "Ledderhose disease" 1 5 0 0 0 0 +MONDO:0004967 "acute lymphoblastic leukemia" 1 19 0 0 0 1 +MONDO:0016036 "Ledderhose disease" 1 4 0 0 0 0 MONDO:0014785 "microcephaly, short stature, and impaired glucose metabolism 2" 1 2 0 0 0 0 HP:0004341 "Abnormality of vitamin B12 metabolism" 0 1 0 0 0 0 http://identifiers.org/hgnc/28927 "KRT71" 0 0 0 0 0 0 @@ -16329,7 +16345,7 @@ MONDO:0017666 "diffuse palmoplantar keratoderma" 0 6 0 0 0 0 MONDO:0000029 "obsolete corticosterone methyloxidase deficiency" 0 0 0 0 0 0 MONDO:0013349 "ALG11-CDG" 1 7 0 0 0 0 MONDO:0005194 "Rotavirus infection" 1 5 0 0 0 1 -MONDO:0014550 "long QT syndrome 15" 1 6 0 0 0 1 +MONDO:0014550 "long QT syndrome 15" 1 5 0 0 0 1 CHEBI:59252 "linear tetrapyrrole anion" 1 0 0 0 0 0 NCBITaxon:945 "Ehrlichia chaffeensis" 0 3 0 0 0 0 NCBITaxon:44542 "gambiae species complex" 0 1 0 0 0 0 @@ -16339,12 +16355,12 @@ HP:0000153 "Abnormality of the mouth" 1 3 0 0 0 0 MONDO:0010279 "terminal osseous dysplasia-pigmentary defects syndrome" 1 5 0 0 0 0 NBO:0000551 "visual object recognition" 1 0 0 0 0 0 SO:0000663 "tRNA_encoding" 1 0 0 0 0 0 -MONDO:0005207 "choriocarcinoma" 1 11 0 0 0 0 +MONDO:0005207 "choriocarcinoma" 1 10 0 0 0 0 UBERON:0002201 "vasculature of trunk" 0 0 0 0 0 1 GO:0034759 "regulation of iron ion transmembrane transport" 1 0 0 0 0 1 MONDO:0011005 "trisomy 18-like syndrome" 0 3 0 0 0 0 MONDO:0017857 "spina bifida-hypospadias syndrome" 1 3 0 0 0 0 -MONDO:0006613 "stromal corneal pigmentation" 1 6 0 0 0 0 +MONDO:0006613 "stromal corneal pigmentation" 1 5 0 0 0 0 MONDO:0001339 "portal vein thrombosis" 1 6 0 0 0 1 http://identifiers.org/hgnc/28993 "PIEZO1" 0 0 0 0 0 0 MONDO:0016948 "partial duplication of the short arm of chromosome 11" 0 1 0 0 0 1 @@ -16371,7 +16387,7 @@ http://identifiers.org/hgnc/3259 "EIF2B3" 0 0 0 0 0 0 CL:0002134 "stromal cell of ovarian medulla" 1 1 0 0 0 1 GO:0045017 "glycerolipid biosynthetic process" 1 0 0 0 0 0 http://identifiers.org/hgnc/3258 "EIF2B2" 0 0 0 0 0 0 -MONDO:0018984 "Oroya fever" 1 9 0 0 0 1 +MONDO:0018984 "Oroya fever" 1 8 0 0 0 1 http://identifiers.org/hgnc/10411 "RPS24" 0 0 0 0 0 0 NCBITaxon:34632 "Rhipicephalus sanguineus" 0 1 0 0 0 0 MONDO:0000502 "villous adenoma" 1 5 0 0 0 0 @@ -16389,7 +16405,7 @@ MONDO:0014908 "microcephaly 17, primary, autosomal recessive" 1 3 0 0 0 1 MONDO:0020463 "isolated congenital ectropion" 1 2 0 0 0 1 http://identifiers.org/hgnc/385 "AKR1C2" 0 0 0 0 0 0 UBERON:0001483 "skin of shoulder" 0 0 0 0 0 1 -MONDO:0011075 "retinitis pigmentosa 18" 1 6 0 0 0 1 +MONDO:0011075 "retinitis pigmentosa 18" 1 5 0 0 0 1 MONDO:0005125 "borderline leprosy" 1 8 0 0 0 0 CHEBI:33457 "phosphorus oxoacid" 1 0 0 0 0 0 http://identifiers.org/hgnc/6601 "LIG4" 0 0 0 0 0 0 @@ -16426,8 +16442,8 @@ CL:0000152 "exocrine cell" 1 1 0 0 0 1 GO:0002826 "negative regulation of T-helper 1 type immune response" 1 0 0 0 0 1 MONDO:0022865 "corneal dystrophy ichthyosis microcephaly intellectual disability" 0 1 0 0 0 0 MONDO:0010698 "optic atrophy 2" 1 8 0 0 0 0 -MONDO:0004773 "iridocyclitis" 1 9 0 0 0 1 -MONDO:0013537 "autosomal recessive nonsyndromic hearing loss 29" 1 5 0 0 0 1 +MONDO:0004773 "iridocyclitis" 1 8 0 0 0 1 +MONDO:0013537 "autosomal recessive nonsyndromic hearing loss 29" 1 4 0 0 0 1 MONDO:0014842 "intellectual disability, autosomal dominant 41" 1 3 0 0 0 1 MONDO:0003097 "childhood mediastinal neurogenic neoplasm" 0 3 0 0 0 1 MONDO:0014095 "dilated cardiomyopathy 1JJ" 1 4 0 0 0 1 @@ -16453,12 +16469,11 @@ GO:0000791 "euchromatin" 1 0 0 0 0 0 GO:0015985 "energy coupled proton transport, down electrochemical gradient" 1 0 0 0 0 0 CHEBI:26607 "saturated fatty acid" 1 0 0 0 0 0 MONDO:0013772 "congenital cataract-hearing loss-severe developmental delay syndrome" 0 3 0 0 0 0 -MONDO:0020056 "uniparental disomy of maternal origin" 0 3 0 0 0 0 CHEBI:17792 "organohalogen compound" 1 0 0 0 0 0 UBERON:0002059 "submandibular ganglion" 0 0 0 0 0 1 NCBITaxon:1173061 "Geotrichum candidum" 0 1 0 0 0 0 GO:0004602 "glutathione peroxidase activity" 1 0 0 0 0 0 -MONDO:0007650 "MALT lymphoma" 1 15 0 0 0 1 +MONDO:0007650 "MALT lymphoma" 1 14 0 0 0 1 MONDO:0004145 "meningothelial meningioma" 1 6 0 0 0 0 MONDO:0024536 "glucocorticoid deficiency 1" 1 4 0 0 0 1 MONDO:0019267 "vitamin B12-unresponsive methylmalonic acidemia type mut-" 1 5 0 0 0 0 @@ -16468,13 +16483,13 @@ GO:0051251 "positive regulation of lymphocyte activation" 1 0 0 0 0 1 CL:0000657 "secondary spermatocyte" 1 4 0 0 0 1 MONDO:0024376 "sleep disorder, initiating and maintaining sleep" 0 1 0 0 0 0 http://identifiers.org/hgnc/24229 "CIDEC" 0 0 0 0 0 0 -MONDO:0004853 "gonococcal endophthalmia" 0 5 0 0 0 1 +MONDO:0004853 "gonococcal endophthalmia" 0 4 0 0 0 1 http://identifiers.org/hgnc/967 "BBS2" 0 0 0 0 0 0 UBERON:0004264 "lower leg skin" 0 0 0 0 0 1 MONDO:0012075 "oligodontia-cancer predisposition syndrome" 0 4 0 0 0 0 MONDO:0006487 "vaginal adenoid cystic carcinoma" 1 3 0 0 0 0 MONDO:0020281 "obsolete metabolic disease with pigmentary retinitis" 0 2 0 0 0 0 -MONDO:0002412 "glycogen storage disease" 1 11 0 0 0 1 +MONDO:0002412 "glycogen storage disease" 1 10 0 0 0 1 MONDO:0017142 "obsolete hemorrhagic disorder due to a qualitative platelet defect" 0 2 0 0 0 0 GO:1905789 "positive regulation of detection of mechanical stimulus involved in sensory perception of touch" 1 0 0 0 0 1 MONDO:0003958 "childhood central nervous system immature teratoma" 1 3 0 0 0 1 @@ -16484,16 +16499,16 @@ MONDO:0043166 "pancreatic lipomatosis duodenal stenosis" 0 3 0 0 0 0 http://identifiers.org/hgnc/11386 "STIM1" 0 0 0 0 0 0 MONDO:0011844 "myoclonic dystonia 15" 1 5 0 0 0 0 UBERON:0015010 "sacral vertebra endochondral element" 0 0 0 0 0 2 -MONDO:0002361 "transverse colon cancer" 1 5 0 0 0 1 +MONDO:0002361 "transverse colon cancer" 1 4 0 0 0 1 GO:1904252 "negative regulation of bile acid metabolic process" 1 0 0 0 0 1 MONDO:0017913 "pure or complex hereditary spastic paraplegia" 0 3 0 0 0 0 -MONDO:0001303 "abnormal pupillary function" 0 6 0 0 0 0 +MONDO:0001303 "abnormal pupillary function" 0 5 0 0 0 0 http://identifiers.org/hgnc/6186 "IVD" 0 0 0 0 0 0 MONDO:0014777 "hypotonia, infantile, with psychomotor retardation and characteristic facies 2" 1 2 0 0 0 1 UBERON:0004921 "subdivision of digestive tract" 0 0 0 0 0 1 MONDO:0007204 "Cole-Carpenter syndrome 1" 1 5 0 0 0 1 MONDO:0018516 "epithelial tumor of anal canal" 1 2 0 0 0 1 -MONDO:0004805 "leukocyte disorder" 1 7 0 0 0 1 +MONDO:0004805 "leukocyte disorder" 1 6 0 0 0 1 MONDO:0018290 "obsolete congenital disorder of glycosylation with cardiac malformation as a major feature" 0 1 0 0 0 0 MONDO:0020562 "pleomorphic liposarcoma" 1 11 0 0 0 0 http://identifiers.org/hgnc/31555 "MIR184" 0 0 0 0 0 0 @@ -16540,20 +16555,20 @@ MONDO:0003848 "ectopic thymus" 1 3 0 0 0 0 MONDO:0043549 "crush syndrome" 1 2 0 0 0 0 MONDO:0002835 "obsolete papillary transitional carcinoma" 0 0 0 0 0 0 GO:0044464 "obsolete cell part" 1 0 0 0 0 0 -MONDO:0011068 "type 1 diabetes mellitus 12" 1 5 0 0 0 1 +MONDO:0011068 "type 1 diabetes mellitus 12" 1 4 0 0 0 1 MONDO:0012797 "otosclerosis 8" 0 3 0 0 0 0 UBERON:0001154 "vermiform appendix" 0 0 0 0 0 0 MONDO:0008003 "autosomal dominant progressive external ophthalmoplegia" 1 9 0 0 0 1 MONDO:0015199 "aniridia - intellectual disability syndrome" 1 4 0 0 0 0 MONDO:0004776 "obsolete infectious anterior uveitis" 0 0 0 0 0 0 MONDO:0002232 "nasal cavity disorder" 1 4 0 0 0 1 -MONDO:0003471 "Pediculus humanus capitis infestation" 1 5 0 0 0 1 -MONDO:0004351 "intraocular lymphoma" 1 7 0 0 0 0 +MONDO:0003471 "Pediculus humanus capitis infestation" 1 4 0 0 0 1 +MONDO:0004351 "intraocular lymphoma" 1 6 0 0 0 0 MONDO:0018336 "obsolete Silver-Russell syndrome due to a point mutation" 0 3 0 0 0 0 MONDO:0009085 "deafness-vitiligo-achalasia syndrome" 1 6 0 0 0 0 PATO:0000627 "localized" 1 0 0 0 0 0 -MONDO:0018315 "X-linked osteoporosis with fractures" 0 2 0 0 0 0 -MONDO:0015164 "acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent" 1 3 0 0 0 0 +MONDO:0018315 "X-linked osteoporosis with fractures" 0 1 0 0 0 0 +MONDO:0015164 "acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent" 1 2 0 0 0 0 UBERON:0000106 "zygote stage" 1 0 0 0 0 0 HP:0011792 "Neoplasm by histology" 1 1 0 0 0 0 GO:0051674 "localization of cell" 1 0 0 0 0 0 @@ -16593,7 +16608,7 @@ MONDO:0020023 "respiratory or mediastinal malformation" 0 1 0 0 0 0 HP:0012735 "Cough" 1 5 0 0 0 0 MONDO:0000234 "Rickettsia parkeri spotted fever" 1 1 0 0 0 1 MONDO:0007382 "Ramos-Arroyo syndrome" 1 6 0 0 0 0 -MONDO:0008553 "platelet-type bleeding disorder 17" 1 8 0 0 0 1 +MONDO:0008553 "platelet-type bleeding disorder 17" 1 7 0 0 0 1 http://identifiers.org/hgnc/966 "BBS1" 0 0 0 0 0 0 http://identifiers.org/hgnc/969 "BBS4" 0 0 0 0 0 0 MONDO:0009805 "osteogenesis imperfecta type 9" 1 8 0 0 0 1 @@ -16601,7 +16616,7 @@ MONDO:0019561 "lupus erythematosus panniculitis" 1 6 0 0 0 0 CHEBI:50336 "4-hydroxybenzyl group" 0 0 0 0 0 0 MONDO:0008923 "autosomal recessive palmoplantar keratoderma and congenital alopecia" 1 8 0 0 0 0 MONDO:0009417 "hypergonadotropic hypogonadism-cataract syndrome" 1 7 0 0 0 0 -MONDO:0001032 "Mooren ulcer" 0 6 0 0 0 0 +MONDO:0001032 "Mooren ulcer" 0 5 0 0 0 0 MONDO:0000010 "obsolete cerebrooculofacioskeletal syndrome" 0 0 0 0 0 0 HP:0001080 "Biliary tract abnormality" 1 4 0 0 0 0 MONDO:0010809 "familial chronic myelocytic leukemia-like syndrome" 1 5 0 0 0 0 @@ -16610,12 +16625,12 @@ MONDO:0005363 "focal segmental glomerulosclerosis" 1 17 0 0 0 0 CL:2000095 "cord blood hematopoietic stem cell" 1 0 0 0 0 1 http://identifiers.org/hgnc/18337 "PADI3" 0 0 0 0 0 0 MONDO:0012747 "glycogen storage disease due to aldolase A deficiency" 1 8 0 0 0 0 -MONDO:0020107 "obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder" 0 3 0 0 0 0 +MONDO:0020107 "obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder" 0 2 0 0 0 0 MONDO:0003825 "kidney oncocytoma" 1 9 0 0 0 1 http://identifiers.org/hgnc/7553 "MYC" 0 0 0 0 0 0 CL:0002422 "enucleated reticulocyte" 1 2 0 0 0 1 MONDO:0008752 "Alexander disease" 1 9 0 0 0 0 -MONDO:0006774 "habitual spontaneous abortion" 1 5 0 0 0 0 +MONDO:0006774 "habitual spontaneous abortion" 1 4 0 0 0 0 GO:0042165 "neurotransmitter binding" 1 0 0 0 0 0 MONDO:0024505 "obsolete disorder by anatomical region" 1 2 0 0 0 0 CHEBI:35295 "homopolycyclic compound" 0 0 0 0 0 0 @@ -16642,11 +16657,12 @@ GO:0002825 "regulation of T-helper 1 type immune response" 1 0 0 0 0 1 CHEBI:50523 "butenolide" 1 0 0 0 0 0 MONDO:0021064 "jugulotympanic paraganglioma" 1 6 0 0 0 1 UBERON:0004650 "tongue keratinized epithelium" 0 0 0 0 0 1 -MONDO:0017419 "non-syndromic amelia" 1 6 0 0 0 1 +MONDO:0017419 "non-syndromic amelia" 1 5 0 0 0 1 MONDO:0002998 "skull base meningioma" 1 3 0 0 0 1 MONDO:0003247 "obsolete pineal parenchymal tumor of intermediate differentiation" 0 0 0 0 0 0 UBERON:0005944 "axial skeleton plus cranial skeleton" 0 0 0 0 0 0 HP:0004305 "Involuntary movements" 1 2 0 0 0 0 +MONDO:0044965 "obsolete abdominal and pelvic region disorder" 1 2 0 0 0 0 UBERON:0014391 "palmar/plantar sweat gland" 0 0 0 0 0 1 MONDO:0003650 "mixed hepatoblastoma" 1 4 0 0 0 0 MONDO:0017116 "congenital communicating hydrocephalus" 0 2 0 0 0 0 @@ -16668,7 +16684,7 @@ MONDO:0012609 "Alzheimer disease 12" 1 6 0 0 0 0 NCBITaxon:554915 "Amoebozoa" 0 3 0 0 0 0 http://identifiers.org/hgnc/13861 "LZTS1" 0 0 0 0 0 0 UBERON:0006843 "root of cranial nerve" 0 0 0 0 0 1 -MONDO:0011392 "autosomal recessive nonsyndromic hearing loss 20" 1 5 0 0 0 0 +MONDO:0011392 "autosomal recessive nonsyndromic hearing loss 20" 1 4 0 0 0 0 MONDO:0020447 "coronary sinus atresia" 0 2 0 0 0 0 NCBITaxon:133423 "Batillus" 0 1 0 0 0 0 HP:0000608 "Macular degeneration" 1 2 0 0 0 0 @@ -16710,21 +16726,21 @@ MONDO:0017604 "marginal zone lymphoma" 1 10 0 0 0 1 MONDO:0013026 "subepithelial mucinous corneal dystrophy" 1 7 0 0 0 0 http://identifiers.org/hgnc/10263 "RP1" 0 0 0 0 0 0 MONDO:0007257 "candidiasis, familial, 1" 0 3 0 0 0 0 -MONDO:0021201 "skin infection" 1 3 0 0 0 1 +MONDO:0021201 "skin infection" 1 4 0 0 0 1 UBERON:0007501 "arborizing epithelial duct system" 0 0 0 0 0 0 NCBITaxon:2732507 "Stelpaviricetes" 0 1 0 0 0 0 MONDO:0009604 "methemoglobin reductase deficiency" 0 5 0 0 0 0 MONDO:0002120 "neuroendocrine carcinoma" 1 6 0 0 0 1 MONDO:0018367 "obsolete clear cell adenocarcinoma of ovary" 0 0 0 0 0 0 GO:0042981 "regulation of apoptotic process" 1 0 0 0 0 1 -MONDO:0006809 "intracranial embolism" 1 7 0 0 0 0 +MONDO:0006809 "intracranial embolism" 1 6 0 0 0 0 UBERON:0016490 "auditory system" 0 0 0 0 0 1 MONDO:0005370 "obsolete interstitial lung disease" 0 0 0 0 0 0 UBERON:0019307 "epithelium of external nose" 0 0 0 0 0 1 MONDO:0100260 "peroxisome biogenesis disorder due to PEX2 defect" 1 0 0 0 0 0 UBERON:0003425 "renal lymph node" 0 0 0 0 0 1 UBERON:0011300 "gray matter of telencephalon" 0 0 0 0 0 1 -MONDO:0001033 "mycotic corneal ulcer" 0 5 0 0 0 0 +MONDO:0001033 "mycotic corneal ulcer" 0 4 0 0 0 0 MONDO:0016294 "Hirschsprung disease-type D brachydactyly syndrome" 1 6 0 0 0 0 http://identifiers.org/hgnc/5286 "HTR1A" 0 0 0 0 0 0 MONDO:0014419 "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome" 1 4 0 0 0 0 @@ -16763,7 +16779,7 @@ UBERON:0004715 "annulus fibrosus disci intervertebralis" 0 0 0 0 0 1 MONDO:0022891 "craniosynostosis Maroteaux Fonfria type" 0 1 0 0 0 0 MONDO:0012428 "kyphoscoliosis 1" 0 3 0 0 0 0 MONDO:0022700 "cerebral palsy spastic monoplegic" 0 1 0 0 0 0 -MONDO:0005266 "diabetic retinopathy" 1 12 0 0 0 1 +MONDO:0005266 "diabetic retinopathy" 1 11 0 0 0 1 MONDO:0002779 "central nervous system chondroma" 1 3 0 0 0 1 http://identifiers.org/hgnc/496 "RIPK4" 0 0 0 0 0 0 MONDO:0022810 "Combarros Calleja Leno syndrome" 0 1 0 0 0 0 @@ -16793,7 +16809,7 @@ GO:0098772 "molecular function regulator" 1 0 0 0 0 0 NCBITaxon:58262 "Culicoidini" 0 1 0 0 0 0 CARO:0000007 "immaterial anatomical entity" 0 0 0 0 0 0 GO:0004345 "glucose-6-phosphate dehydrogenase activity" 1 0 0 0 0 0 -MONDO:0006723 "denture stomatitis" 1 7 0 0 0 0 +MONDO:0006723 "denture stomatitis" 1 6 0 0 0 0 MONDO:0021211 "brain neoplasm" 1 1 0 0 0 1 GO:0005579 "membrane attack complex" 1 0 0 0 0 0 MONDO:0003426 "clear cell adenoma" 1 4 0 0 0 0 @@ -16806,14 +16822,14 @@ CHR:9606-chr19p13 "19p13 (Human)" 0 0 0 0 0 0 NCBITaxon:8045 "Gadidae" 0 1 0 0 0 0 HP:0000509 "Conjunctivitis" 1 4 0 0 0 0 MONDO:0024608 "dientamoebiasis" 1 3 0 0 0 1 -MONDO:0001726 "childhood disintegrative disease" 1 7 0 0 0 0 +MONDO:0001726 "childhood disintegrative disease" 1 6 0 0 0 0 GO:0070009 "serine-type aminopeptidase activity" 1 0 0 0 0 0 UBERON:0014796 "common tendinous ring" 0 0 0 0 0 0 MONDO:0008687 "Woronets trait" 0 1 0 0 0 0 CHEBI:33303 "chalcogen" 1 0 0 0 0 0 http://identifiers.org/hgnc/10825 "SH3BP2" 0 0 0 0 0 0 MONDO:0011690 "Camurati-Engelmann disease, type 2" 1 4 0 0 0 0 -MONDO:0020019 "digestive tract malformation" 0 1 0 0 0 0 +MONDO:0020019 "digestive tract malformation" 0 2 0 0 0 0 CHR:9606-chr14q32 "14q32 (Human)" 0 0 0 0 0 0 MONDO:0011081 "dislocation of the hip-dysmorphism syndrome" 1 7 0 0 0 0 MONDO:0004945 "obsolete hypereosinophilic syndrome" 0 0 0 0 0 0 @@ -16822,8 +16838,8 @@ MONDO:0006799 "hypothalamic neoplasm" 1 6 0 0 0 1 UBERON:0001604 "levator palpebrae superioris" 0 0 0 0 0 0 MONDO:0016572 "central bilateral macrogyria" 1 4 0 0 0 0 MONDO:0009784 "ophthalmoplegic neuromuscular disorder with abnormal mitochondria" 0 3 0 0 0 0 -MONDO:0004840 "non-congenital cyst of kidney" 0 5 0 0 0 0 -MONDO:0011644 "pars planitis" 1 11 0 0 0 1 +MONDO:0004840 "non-congenital cyst of kidney" 0 4 0 0 0 0 +MONDO:0011644 "pars planitis" 1 10 0 0 0 1 http://identifiers.org/hgnc/14289 "NLGN3" 0 0 0 0 0 0 NCBITaxon:42408 "Neotoma albigula" 0 1 0 0 0 0 MONDO:0014752 "nephrotic syndrome, type 11" 1 3 0 0 0 1 @@ -16836,7 +16852,7 @@ MONDO:0020563 "Dedifferentiated liposarcoma" 1 10 0 0 0 0 MONDO:0018682 "congenital insensitivity to pain with severe intellectual disability" 0 1 0 0 0 0 MONDO:0016288 "obsolete glassy cell carcinoma of the cervix uteri" 0 0 0 0 0 0 MONDO:0009708 "myopathy, myosin storage, autosomal recessive" 0 5 0 0 0 0 -MONDO:0012644 "asphyxiating thoracic dystrophy 2" 1 6 0 0 0 1 +MONDO:0012644 "asphyxiating thoracic dystrophy 2" 1 5 0 0 0 1 MONDO:0015654 "obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes" 0 2 0 0 0 0 MONDO:0044229 "obsolete epiblepharon of lower 51d" 0 1 0 0 0 0 MONDO:0019833 "pituitary hormone deficiency from tumoral origin" 0 2 0 0 0 0 @@ -16845,16 +16861,16 @@ MONDO:0015963 "obsolete inherited renal tumor" 0 2 0 0 0 0 SO:0000401 "gene_attribute" 1 0 0 0 0 0 ENVO:0010003 "agricultural environmental material" 0 0 0 0 0 0 MONDO:0003388 "ampulla of vater clear cell adenocarcinoma" 1 3 0 0 0 1 -MONDO:0019037 "progressive supranuclear palsy" 1 15 0 0 0 0 +MONDO:0019037 "progressive supranuclear palsy" 1 14 0 0 0 0 MONDO:0012640 "Charcot-Marie-Tooth disease type 4J" 1 9 0 0 0 1 MONDO:0006214 "follicular variant thyroid gland papillary carcinoma" 1 3 0 0 0 0 MONDO:0060764 "tetraamelia syndrome 1" 0 1 0 0 0 0 MONDO:0014501 "macular degeneration, early-onset" 0 2 0 0 0 0 MONDO:0004136 "ovarian endometrioid cystadenoma" 1 3 0 0 0 0 MONDO:0005462 "primitive neuroectodermal tumor" 1 7 0 0 0 0 -MONDO:0001214 "acute conjunctivitis" 1 7 0 0 0 1 +MONDO:0001214 "acute conjunctivitis" 1 6 0 0 0 1 MONDO:0016332 "hypertrophic cardiomyopathy due to intensive athletic training" 0 3 0 0 0 0 -MONDO:0012260 "cataract 35" 1 7 0 0 0 0 +MONDO:0012260 "cataract 35" 1 6 0 0 0 0 GO:0010950 "positive regulation of endopeptidase activity" 1 0 0 0 0 1 HP:0002901 "Hypocalcemia" 1 3 0 0 0 0 GO:1903034 "regulation of response to wounding" 1 0 0 0 0 1 @@ -16867,12 +16883,12 @@ UBERON:0008281 "tooth bud" 0 0 0 0 0 0 MONDO:0000240 "invasive aspergillosis" 1 3 0 0 0 0 CHEBI:24261 "glucocorticoid" 1 0 0 0 0 0 MONDO:0011110 "dyssegmental dysplasia-glaucoma syndrome" 1 5 0 0 0 0 -MONDO:0007315 "cherubism" 1 12 0 0 0 0 +MONDO:0007315 "cherubism" 1 10 0 0 0 0 UBERON:5001466 "pedal digit plus metapodial segment" 0 0 0 0 0 1 MONDO:0013065 "premature ovarian failure 7" 1 3 0 0 0 1 MONDO:0020719 "obsolete susceptibility to Hirschsprung disease" 0 0 0 0 0 0 NCBITaxon:6180 "Strigeidida" 0 1 0 0 0 0 -MONDO:0044200 "T-B+ severe combined immunodeficiency" 1 2 0 0 0 0 +MONDO:0044200 "T-B+ severe combined immunodeficiency" 1 1 0 0 0 0 MONDO:0000031 "obsolete fatty liver disease, nonalcoholic" 0 0 0 0 0 0 MONDO:0005998 "trombiculiasis" 1 4 0 0 0 1 MONDO:0012031 "platelet-type bleeding disorder 10" 1 4 0 0 0 1 @@ -16885,7 +16901,7 @@ CL:0000637 "chromophil cell of anterior pituitary gland" 1 1 0 0 0 1 MONDO:0020866 "nasopharyngeal diphtheria" 1 4 0 0 0 1 CHEBI:38496 "electron-transport chain inhibitor" 0 0 0 0 0 0 MONDO:0008943 "autosomal recessive spinocerebellar ataxia 2" 1 8 0 0 0 1 -MONDO:0001836 "amenorrhea" 1 7 0 0 0 0 +MONDO:0001836 "amenorrhea" 1 6 0 0 0 0 HP:0032251 "Abnormal immune system morphology" 0 0 0 0 0 0 UBERON:0004294 "glomerular capillary endothelium" 0 0 0 0 0 1 http://identifiers.org/hgnc/23038 "LMBRD1" 0 0 0 0 0 0 @@ -16900,9 +16916,9 @@ MONDO:0021320 "malignant tumor of floor of mouth" 1 4 0 0 0 1 MONDO:0013588 "Perrault syndrome 3" 1 3 0 0 0 1 MONDO:0008275 "familial expansile osteolysis" 0 8 0 0 0 0 MONDO:0003881 "vulvar apocrine adenocarcinoma" 1 3 0 0 0 1 -MONDO:0004767 "vesiculitis" 1 6 0 0 0 1 +MONDO:0004767 "vesiculitis" 1 5 0 0 0 1 MONDO:0002487 "breast granular cell tumor" 1 3 0 0 0 1 -MONDO:0019771 "oromandibular dystonia" 1 4 0 0 0 0 +MONDO:0019771 "oromandibular dystonia" 1 3 0 0 0 0 HP:0004322 "Short stature" 1 2 0 0 0 0 MONDO:0045020 "glycine metabolism disease" 1 2 0 0 0 1 MONDO:0007323 "Chondronectin" 0 1 0 0 0 0 @@ -16911,9 +16927,9 @@ http://identifiers.org/hgnc/823 "ATP5F1A" 0 0 0 0 0 0 MONDO:0004809 "obsolete cannabis abuse" 0 0 0 0 0 0 MONDO:0030487 "spondylometaphyseal dysplasia, pagnamenta type" 0 1 0 0 0 0 MONDO:0014909 "primary ciliary dyskinesia 34" 1 3 0 0 0 1 -MONDO:0001076 "glucose intolerance" 1 7 0 0 0 0 +MONDO:0001076 "glucose intolerance" 1 6 0 0 0 0 MONDO:0002923 "uterine corpus endometrial stromal sarcoma" 1 3 0 0 0 1 -MONDO:0005532 "Crohn's colitis" 1 6 0 0 0 0 +MONDO:0005532 "Crohn's colitis" 1 5 0 0 0 0 UBERON:0001199 "mucosa of stomach" 0 0 0 0 0 1 HP:0006476 "Abnormality of the pancreatic islet cells" 1 1 0 0 0 0 MONDO:0015730 "mosaic trisomy 17" 1 7 0 0 0 1 @@ -16929,8 +16945,8 @@ UBERON:0035662 "parotid vein" 0 0 0 0 0 1 MONDO:0000685 "visual agnosia" 1 4 0 0 0 1 MONDO:0003050 "lung large cell carcinoma" 1 8 0 0 0 1 UBERON:0001331 "skin of penis" 0 0 0 0 0 1 -MONDO:0013963 "autosomal recessive nonsyndromic hearing loss 93" 1 3 0 0 0 1 -MONDO:0005083 "psoriasis" 1 27 0 0 0 0 +MONDO:0013963 "autosomal recessive nonsyndromic hearing loss 93" 1 2 0 0 0 1 +MONDO:0005083 "psoriasis" 1 26 0 0 0 0 MONDO:0004489 "fallopian tube gestational choriocarcinoma" 1 3 0 0 0 1 MONDO:0008363 "raindrop hypopigmentation" 0 2 0 0 0 0 MONDO:0100442 "RP2-related retinopathy" 1 0 0 0 0 0 @@ -16956,7 +16972,7 @@ MONDO:0028226 "autosomal recessive severe congenital neutropenia" 0 1 0 0 0 1 UBERON:0035815 "paracardial fat" 0 0 0 0 0 1 NCBITaxon:51027 "Enterobius" 0 1 0 0 0 0 NCBITaxon:186826 "Lactobacillales" 0 1 0 0 0 0 -MONDO:0009666 "holocarboxylase synthetase deficiency" 1 12 0 0 0 0 +MONDO:0009666 "holocarboxylase synthetase deficiency" 1 11 0 0 0 0 MONDO:0010419 "obsolete X-linked sideroblastic anemia" 0 0 0 0 0 0 ENVO:01001048 "sediment environment"@en 1 0 0 0 0 1 MONDO:0014090 "polydactyly, postaxial, type A6" 0 3 0 0 0 0 @@ -16980,8 +16996,8 @@ MONDO:0006825 "kuru" 1 12 0 0 0 0 UBERON:0002301 "layer of neocortex" 0 0 0 0 0 1 UBERON:0003475 "ureteric vein" 0 0 0 0 0 1 MONDO:0019675 "spondyloepimetaphyseal dysplasia with joint laxity" 1 10 0 0 0 0 -MONDO:0001804 "anterior scleritis" 0 5 0 0 0 0 -MONDO:0004718 "xeroderma of eyelid" 0 5 0 0 0 0 +MONDO:0001804 "anterior scleritis" 0 4 0 0 0 0 +MONDO:0004718 "xeroderma of eyelid" 0 4 0 0 0 0 CHEBI:25384 "monocarboxylic acid" 1 0 0 0 0 0 UBERON:0004246 "outflow tract smooth muscle" 0 0 0 0 0 1 MONDO:0015428 "choroidal atrophy-alopecia syndrome" 1 5 0 0 0 0 @@ -16994,7 +17010,7 @@ GO:0034756 "regulation of iron ion transport" 1 0 0 0 0 1 MONDO:0012863 "attention deficit-hyperactivity disorder, susceptibility to, 6" 0 1 0 0 0 0 MONDO:0008583 "inherited torticollis" 1 8 0 0 0 0 MONDO:0018999 "LCAT deficiency" 1 5 0 0 0 0 -MONDO:0009692 "primary myelofibrosis" 1 16 0 0 0 0 +MONDO:0009692 "primary myelofibrosis" 1 15 0 0 0 0 MONDO:0019698 "bent bone dysplasia" 0 4 0 0 0 0 MONDO:0008360 "obsolete radioulnar synostosis" 0 0 0 0 0 0 MONDO:0007625 "focal epithelial hyperplasia of the oral mucosa" 0 3 0 0 0 0 @@ -17005,7 +17021,7 @@ UBERON:0014388 "kidney collecting duct epithelium" 0 0 0 0 0 1 MONDO:0011586 "otosclerosis 2" 0 3 0 0 0 0 MONDO:0060777 "cervical fibroepithelial polyp" 1 2 0 0 0 1 MONDO:0016825 "mitochondrial myopathy-lactic acidosis-deafness syndrome" 1 5 0 0 0 0 -MONDO:0012081 "15q11q13 microduplication syndrome" 1 7 0 0 0 1 +MONDO:0012081 "15q11q13 microduplication syndrome" 1 6 0 0 0 1 ENVO:00000073 "building" 1 0 0 0 0 0 CL:1000317 "intestinal villus goblet cell" 1 1 0 0 0 1 MONDO:0016348 "non-genetic cardiac rhythm disease" 0 2 0 0 0 0 @@ -17017,7 +17033,7 @@ http://identifiers.org/hgnc/10618 "CCL2" 0 0 0 0 0 0 MONDO:0015613 "dentin dysplasia" 1 8 0 0 0 0 GO:0001804 "negative regulation of type III hypersensitivity" 1 0 0 0 0 1 MONDO:0010971 "infundibulopelvic stenosis-multicystic kidney syndrome" 1 6 0 0 0 0 -MONDO:0008552 "platelet-type bleeding disorder 16" 1 6 0 0 0 0 +MONDO:0008552 "platelet-type bleeding disorder 16" 1 5 0 0 0 0 UBERON:0007301 "appendage blood vessel" 0 0 0 0 0 1 MONDO:0044233 "obsolete hair whorl" 0 1 0 0 0 0 MONDO:0010891 "lethal hemolytic anemia-genital anomalies syndrome" 1 6 0 0 0 0 @@ -17030,7 +17046,7 @@ MONDO:0009185 "amelocerebrohypohidrotic syndrome" 1 8 0 0 0 0 GO:1901317 "regulation of flagellated sperm motility" 1 0 0 0 0 1 GO:0007605 "sensory perception of sound" 1 0 0 0 0 0 MONDO:0001501 "retroperitoneal sarcoma" 1 4 0 0 0 1 -MONDO:0017855 "T-B- severe combined immunodeficiency" 1 2 0 0 0 0 +MONDO:0017855 "T-B- severe combined immunodeficiency" 1 1 0 0 0 0 CL:1001428 "bladder urothelial cell" 0 1 0 0 0 1 UBERON:0015079 "proximal carpal cartilage" 0 0 0 0 0 1 GO:0031348 "negative regulation of defense response" 1 0 0 0 0 1 @@ -17046,7 +17062,7 @@ MONDO:0020183 "neurogenic palpebral tumor" 0 2 0 0 0 0 http://identifiers.org/hgnc/30832 "TRAPPC9" 0 0 0 0 0 0 MONDO:0100068 "SLC10A7-CDG" 1 0 0 0 0 1 MONDO:0000400 "mixed cerebral palsy" 1 5 0 0 0 0 -MONDO:0001824 "polyneuropathy" 1 9 0 0 0 0 +MONDO:0001824 "polyneuropathy" 1 8 0 0 0 0 MONDO:0016454 "severe early-onset axonal neuropathy due to NEFL deficiency" 1 2 0 0 0 0 http://identifiers.org/hgnc/3762 "FLRT3" 0 0 0 0 0 0 MONDO:0060582 "auditory neuropathy-optic atrophy syndrome" 0 3 0 0 0 0 @@ -17092,7 +17108,7 @@ CHEBI:24835 "inorganic molecular entity" 1 0 0 0 0 0 UBERON:5003631 "pedal digit 1 plus metapodial segment" 0 0 0 0 0 1 UBERON:0011676 "subdivision of organism along main body axis" 0 0 0 0 0 0 PATO:0015025 "decreased porosity" 1 0 0 0 0 1 -MONDO:0006654 "anthracosis" 1 9 0 0 0 1 +MONDO:0006654 "anthracosis" 1 8 0 0 0 1 ECTO:0000637 "exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor" 1 0 0 0 0 1 MONDO:0022647 "cardiomelic syndrome stratton Koehler type" 0 1 0 0 0 0 UBERON:0001312 "superior vesical artery" 0 0 0 0 0 1 @@ -17113,7 +17129,7 @@ MONDO:0014039 "mitochondrial DNA depletion syndrome 11" 1 5 0 0 0 1 UBERON:0005129 "metanephric distal tubule" 0 0 0 0 0 1 MONDO:0700084 "myopathy caused by variation in GMPPB" 1 0 0 0 0 1 MONDO:0018061 "trichodermodysplasia-dental alterations syndrome" 1 4 0 0 0 0 -MONDO:0018749 "hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome" 1 8 0 0 0 0 +MONDO:0018749 "hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome" 1 7 0 0 0 0 http://identifiers.org/hgnc/25018 "TMEM216" 0 0 0 0 0 0 CHR:9606-chr14q12 "14q12 (Human)" 0 0 0 0 0 0 http://identifiers.org/hgnc/11448 "SUCLA2" 0 0 0 0 0 0 @@ -17136,7 +17152,7 @@ MONDO:0030702 "autoimmune atherosclerosis" 1 1 0 0 0 1 CHEBI:33240 "coordination entity" 1 0 0 0 0 0 NCBITaxon:5754 "Acanthamoeba" 0 1 0 0 0 0 MONDO:0018270 "extraskeletal Ewing sarcoma" 1 8 0 0 0 0 -MONDO:0011821 "Meckel syndrome, type 3" 1 7 0 0 0 1 +MONDO:0011821 "Meckel syndrome, type 3" 1 6 0 0 0 1 CARO:0000000 "anatomical entity"@en 0 0 0 0 0 0 MONDO:0032927 "triokinase and FMN cyclase deficiency syndrome" 0 1 0 0 0 0 MONDO:0006692 "central pontine myelinolysis" 1 10 0 0 0 0 @@ -17155,10 +17171,10 @@ UBERON:0002119 "left ovary" 0 0 0 0 0 1 MONDO:0000888 "gastrointestinal mucositis" 1 7 0 0 0 1 MONDO:0016741 "obsolete teratoma of the central nervous system" 0 0 0 0 0 0 MONDO:0007242 "butyrylesterase 1" 0 1 0 0 0 0 -MONDO:0001521 "intermittent explosive disorder" 1 7 0 0 0 0 +MONDO:0001521 "intermittent explosive disorder" 1 6 0 0 0 0 MONDO:0014943 "mitochondrial DNA depletion syndrome 15 (hepatocerebral type);" 1 3 0 0 0 1 CL:0002097 "cortical cell of adrenal gland" 1 1 0 0 0 1 -MONDO:0001532 "capillariasis" 1 5 0 0 0 1 +MONDO:0001532 "capillariasis" 1 4 0 0 0 1 UBERON:0014390 "muscle layer of ileum" 0 0 0 0 0 1 UBERON:0019262 "white matter of myelencephalon" 0 0 0 0 0 1 MONDO:0013240 "maturity-onset diabetes of the young type 10" 1 4 0 0 0 1 @@ -17171,7 +17187,7 @@ CL:0000183 "contractile cell" 1 0 0 0 0 0 NCBITaxon:43801 "Ceratopogoninae" 0 1 0 0 0 0 HP:0002573 "Hematochezia" 1 4 0 0 0 0 MONDO:0017096 "isolated focal cortical dysplasia type Ia" 0 3 0 0 0 0 -MONDO:0018527 "osteoclastic giant cell tumor of pancreas" 0 7 0 0 0 0 +MONDO:0018527 "osteoclastic giant cell tumor of pancreas" 0 2 0 0 0 0 UBERON:0005358 "ventricle of nervous system" 0 0 0 0 0 0 MONDO:0004559 "malignant glandular tumor of peripheral nerve sheath" 1 5 0 0 0 0 CHEBI:33582 "carbon group molecular entity" 0 0 0 0 0 0 @@ -17239,7 +17255,7 @@ MONDO:0015048 "amelogenesis imperfecta type 2" 0 13 0 0 0 0 MONDO:0043099 "Hordnes Engebretsen Knudtson syndrome" 0 3 0 0 0 0 MONDO:0018996 "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2" 1 9 0 0 0 0 UBERON:0035884 "maxillary-premaxillary suture" 0 0 0 0 0 1 -MONDO:0004977 "angioimmunoblastic T-cell lymphoma" 1 16 0 0 0 0 +MONDO:0004977 "angioimmunoblastic T-cell lymphoma" 1 15 0 0 0 0 MONDO:0020009 "obsolete rare neurologic disease" 1 2 0 0 0 0 http://identifiers.org/hgnc/8079 "FRMD7" 0 0 0 0 0 0 UBERON:0005081 "ureter ureteric bud" 0 0 0 0 0 1 @@ -17249,7 +17265,7 @@ MONDO:0017540 "obsolete postaxial polydactyly of toes, bilateral" 0 2 0 0 0 0 MONDO:0000500 "tongue squamous cell carcinoma" 1 9 0 0 0 1 MONDO:0001876 "renal artery atheroma" 1 5 0 0 0 1 MONDO:0004274 "mixed epithelial/mesenchymal metaplastic breast carcinoma" 1 4 0 0 0 0 -MONDO:0006544 "erythema infectiosum" 1 8 0 0 0 0 +MONDO:0006544 "erythema infectiosum" 1 7 0 0 0 0 UBERON:5103631 "pedal digit 1 digitopodial skeleton" 0 0 0 0 0 1 GO:0003091 "renal water homeostasis" 1 0 0 0 0 0 MONDO:0003360 "small intestine leiomyosarcoma" 1 10 0 0 0 1 @@ -17264,9 +17280,9 @@ MONDO:0019004 "kidney Wilms tumor" 1 18 0 0 0 0 MONDO:0025412 "feline panleukopenia" 1 2 0 0 0 0 PATO:0001400 "unipotent" 1 0 0 0 0 0 MONDO:0025167 "reticuloendotheliosis, avian" 1 2 0 0 0 0 -MONDO:0014361 "autism spectrum disorder due to AUTS2 deficiency" 1 5 0 0 0 0 +MONDO:0014361 "autism spectrum disorder due to AUTS2 deficiency" 1 4 0 0 0 0 NCBITaxon:34502 "Troglotrematidae" 0 1 0 0 0 0 -MONDO:0002931 "conjunctivochalasis" 0 5 0 0 0 0 +MONDO:0002931 "conjunctivochalasis" 0 4 0 0 0 0 MONDO:0007919 "lymphatic malformation 1" 1 5 0 0 0 1 MONDO:0045069 "minor salivary gland carcinoma" 1 2 0 0 0 1 MONDO:0022676 "obsolete cataract - glaucoma" 0 0 0 0 0 0 @@ -17301,7 +17317,7 @@ UBERON:0010697 "pedal digit metatarsal cartilage element" 0 0 0 0 0 1 ENVO:00002261 "forest soil" 1 0 0 0 0 1 MONDO:0007875 "Larsen syndrome" 1 9 0 0 0 0 NCBITaxon:12663 "Feline coronavirus" 0 1 0 0 0 0 -MONDO:0001864 "residual stage angle-closure glaucoma" 0 5 0 0 0 0 +MONDO:0001864 "residual stage angle-closure glaucoma" 0 4 0 0 0 0 UBERON:0035956 "epididymal lumen" 0 0 0 0 0 1 GO:0140236 "translation at presynapse" 1 0 0 0 0 1 MONDO:0018574 "intellectual disability-expressive aphasia-facial dysmorphism syndrome" 0 5 0 0 0 0 @@ -17325,33 +17341,33 @@ http://identifiers.org/hgnc/10660 "SDC3" 0 0 0 0 0 0 UBERON:0001484 "articular capsule" 0 0 0 0 0 1 UBERON:0009030 "left pulmonary vein" 0 0 0 0 0 1 MONDO:0008165 "southeast Asian ovalocytosis" 1 8 0 0 0 0 -MONDO:0015136 "obsolete immunodeficiency due to a genetic complement cascade protein anomaly" 0 2 0 0 0 0 +MONDO:0015136 "obsolete immunodeficiency due to a genetic complement cascade protein anomaly" 0 1 0 0 0 0 MONDO:0017887 "renal cell carcinoma associated with neuroblastoma" 1 4 0 0 0 0 IAO:0000005 "objective specification"@en 2 0 0 0 0 0 -MONDO:0005800 "hordeolum" 1 8 0 0 0 1 +MONDO:0005800 "hordeolum" 1 7 0 0 0 1 MONDO:0006103 "benign adrenal gland pheochromocytoma" 1 2 0 0 0 1 -MONDO:0013946 "hypogonadotropic hypogonadism 15 with or without anosmia" 1 5 0 0 0 1 +MONDO:0013946 "hypogonadotropic hypogonadism 15 with or without anosmia" 1 4 0 0 0 1 MONDO:0000665 "apraxia" 1 4 0 0 0 0 UBERON:0006261 "male genital tubercle" 0 0 0 0 0 1 MONDO:0100380 "acute myeloid leukemia, t(4;11)(q21;q23)" 1 1 0 0 0 0 HP:0012418 "Hypoxemia" 1 3 0 0 0 0 -MONDO:0005888 "ornithosis" 1 10 0 0 0 0 +MONDO:0005888 "ornithosis" 1 9 0 0 0 0 CHEBI:29793 "hydridodioxygen(1+)" 0 0 0 0 0 0 MONDO:0006634 "pituitary gland acidophil adenoma" 1 6 0 0 0 0 MONDO:0002712 "epidural spinal canal angiolipoma" 1 3 0 0 0 1 MONDO:0015729 "mosaic trisomy 16" 1 4 0 0 0 1 HP:0031466 "Impairment in personality functioning" 1 0 0 0 0 0 MONDO:0013093 "glioma susceptibility 3" 1 3 0 0 0 1 -MONDO:0011996 "chronic myelogenous leukemia, BCR-ABL1 positive" 1 15 0 0 0 0 -MONDO:0004635 "postcricoid region cancer" 1 6 0 0 0 0 -MONDO:0000922 "pelvic inflammatory disease" 1 11 0 0 0 1 +MONDO:0011996 "chronic myelogenous leukemia, BCR-ABL1 positive" 1 14 0 0 0 0 +MONDO:0004635 "postcricoid region cancer" 1 5 0 0 0 0 +MONDO:0000922 "pelvic inflammatory disease" 1 10 0 0 0 1 MONDO:0024492 "tumor grade 2, general grading system" 1 2 0 0 0 0 MONDO:0007469 "double nail for fifth toe" 0 3 0 0 0 0 MONDO:0018986 "obsolete leiomyosarcoma" 0 0 0 0 0 0 MONDO:0016863 "Okihiro syndrome due to 20q13 microdeletion" 0 3 0 0 0 0 HP:0040069 "Abnormal lower limb bone morphology" 0 2 0 0 0 0 SO:0000673 "transcript" 1 0 0 0 0 0 -MONDO:0009519 "letterer-Siwe disease" 1 7 0 0 0 0 +MONDO:0009519 "letterer-Siwe disease" 1 6 0 0 0 0 MONDO:0007572 "primary familial polycythemia due to EPO receptor mutation" 1 7 0 0 0 1 GO:0030432 "peristalsis" 1 0 0 0 0 0 MONDO:0017780 "20p13 microdeletion syndrome" 1 3 0 0 0 1 @@ -17386,7 +17402,7 @@ MONDO:0015675 "distomatosis" 1 5 0 0 0 0 http://identifiers.org/hgnc/19087 "EBF3" 0 0 0 0 0 0 ENVO:01001084 "particulate matter formation process"@en 1 0 0 0 0 0 MONDO:0017710 "congenital systemic veins anomaly" 0 1 0 0 0 0 -MONDO:0014191 "catecholaminergic polymorphic ventricular tachycardia 5" 1 5 0 0 0 1 +MONDO:0014191 "catecholaminergic polymorphic ventricular tachycardia 5" 1 4 0 0 0 1 MONDO:0012225 "Senior-Loken syndrome 5" 1 4 0 0 0 1 MONDO:0012865 "Pseudofolliculitis barbae" 0 4 0 0 0 0 MONDO:0015204 "microlissencephaly" 1 5 0 0 0 0 @@ -17404,14 +17420,14 @@ GO:0070563 "negative regulation of vitamin D receptor signaling pathway" 1 0 0 0 MONDO:0003646 "rectum neuroendocrine neoplasm" 1 4 0 0 0 1 http://identifiers.org/hgnc/25461 "PUS3" 0 0 0 0 0 0 UBERON:0003531 "forelimb skin" 0 0 0 0 0 1 -MONDO:0001508 "patulous eustachian tube" 1 7 0 0 0 0 +MONDO:0001508 "patulous eustachian tube" 1 6 0 0 0 0 MONDO:0019206 "sparse hair-short stature-skin anomalies syndrome" 1 2 0 0 0 0 GO:1901653 "cellular response to peptide" 1 0 0 0 0 0 UBERON:0003291 "meninx of hindbrain" 0 0 0 0 0 1 MONDO:0020650 "germ cell tumor of the vulva" 0 1 0 0 0 1 NCBITaxon:356 "Hyphomicrobiales" 0 2 0 0 0 0 http://identifiers.org/hgnc/1012 "OPN1SW" 0 0 0 0 0 0 -MONDO:0012071 "congenital generalized lipodystrophy type 1" 1 5 0 0 0 1 +MONDO:0012071 "congenital generalized lipodystrophy type 1" 1 4 0 0 0 1 MONDO:0008169 "osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension" 0 4 0 0 0 0 http://identifiers.org/hgnc/6171 "ITK" 0 0 0 0 0 0 MONDO:0008809 "polyneuropathy-hand defect syndrome" 1 6 0 0 0 0 @@ -17429,9 +17445,9 @@ MONDO:0017100 "neutropenia-monocytopenia-deafness syndrome" 1 3 0 0 0 0 UBERON:0035006 "preputial swelling of female" 0 0 0 0 0 1 MONDO:0007488 "Lewy body dementia" 1 10 0 0 0 0 MONDO:0003199 "anal carcinoma" 1 6 0 0 0 1 -MONDO:0004766 "status asthmaticus" 1 8 0 0 0 0 +MONDO:0004766 "status asthmaticus" 1 7 0 0 0 0 MONDO:0011237 "hyperlipidemia, combined, 1" 1 3 0 0 0 1 -MONDO:0004966 "gastritis" 1 18 0 0 0 1 +MONDO:0004966 "gastritis" 1 17 0 0 0 1 MONDO:0002613 "histrionic personality disorder" 1 9 0 0 0 0 MONDO:0000622 "obsolete cell type benign neoplasm" 0 0 0 0 0 0 MONDO:0030906 "Trichomonas tenax infectious disease" 1 1 0 0 0 1 @@ -17456,12 +17472,12 @@ MONDO:0006946 "renal osteodystrophy" 1 10 0 0 0 0 MONDO:0010758 "Wieacker-Wolff syndrome" 1 12 0 0 0 0 MONDO:0017705 "congenital pulmonary venous return anomaly" 1 7 0 0 0 0 HsapDv:0000128 "34-year-old human stage" 1 0 0 0 0 0 -MONDO:0015711 "obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells" 0 2 0 0 0 0 +MONDO:0015711 "obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells" 0 1 0 0 0 0 UBERON:0003650 "metatarsal bone of digit 1" 0 0 0 0 0 1 CHEBI:26835 "sulfur molecular entity" 0 0 0 0 0 0 http://identifiers.org/hgnc/18873 "IFIH1" 0 0 0 0 0 0 MONDO:0011696 "melanoma, uveal, susceptibility to, 2" 0 2 0 0 0 0 -MONDO:0024647 "urolithiasis" 1 5 0 0 0 0 +MONDO:0024647 "urolithiasis" 1 6 0 0 0 0 UBERON:0001175 "common hepatic duct" 0 0 0 0 0 0 MONDO:0010064 "spastic ataxia-corneal dystrophy syndrome" 1 7 0 0 0 0 NCBITaxon:1399768 "Basidiobolomycetes" 0 1 0 0 0 0 @@ -17480,7 +17496,7 @@ CL:0000187 "muscle cell" 1 6 0 0 0 0 http://identifiers.org/hgnc/2235 "KLF6" 0 0 0 0 0 0 MONDO:0002562 "demyelinating disease" 1 5 0 0 0 1 GO:0010977 "negative regulation of neuron projection development" 1 0 0 0 0 1 -MONDO:0008585 "HELLP syndrome" 1 11 0 0 0 0 +MONDO:0008585 "HELLP syndrome" 1 10 0 0 0 0 GO:0007595 "lactation" 1 0 0 0 0 0 MONDO:0018592 "cutaneous polyarteritis nodosa" 1 8 0 0 0 0 MONDO:0002074 "Behcet syndrome arthropathy" 1 9 0 0 0 0 @@ -17542,7 +17558,7 @@ CL:0010021 "cardiac myoblast" 0 0 0 0 0 1 MONDO:0015232 "radial deficiency-tibial hypoplasia syndrome" 0 3 0 0 0 0 UBERON:0001425 "pectoral lymphatic vessel" 0 0 0 0 0 1 UBERON:0006955 "uterine epithelium" 0 0 0 0 0 1 -MONDO:0001009 "solitary cyst of breast" 1 6 0 0 0 0 +MONDO:0001009 "solitary cyst of breast" 1 5 0 0 0 0 MONDO:0004913 "alternating esotropia" 0 5 0 0 0 0 MONDO:0011176 "intestinal hypomagnesemia 1" 1 8 0 0 0 1 MONDO:0018218 "autosomal recessive cerebral atrophy" 0 3 0 0 0 0 @@ -17551,10 +17567,10 @@ http://identifiers.org/hgnc/1480 "CAPN3" 0 0 0 0 0 0 MONDO:0032842 "siddiqi syndrome" 0 1 0 0 0 0 MONDO:0014940 "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" 0 2 0 0 0 0 CL:0000878 "central nervous system macrophage" 1 0 0 0 0 1 -MONDO:0005009 "congestive heart failure" 1 17 0 0 0 0 +MONDO:0005009 "congestive heart failure" 1 14 0 0 0 0 CL:2000017 "fibroblast of peridontal ligament" 1 0 0 0 0 1 MONDO:0006498 "adenomatous colon polyp" 1 4 0 0 0 0 -MONDO:0018916 "isolated anorectal malformation" 1 9 0 0 0 1 +MONDO:0018916 "isolated anorectal malformation" 1 5 0 0 0 1 http://identifiers.org/hgnc/6831 "MANBA" 0 0 0 0 0 0 HP:0010975 "Abnormal B cell count" 1 1 0 0 0 0 MONDO:0008339 "antecubital pterygium syndrome" 0 5 0 0 0 0 @@ -17563,15 +17579,15 @@ UBERON:0003554 "hindbrain pia mater" 0 0 0 0 0 1 CL:1001225 "kidney collecting duct cell" 0 2 0 0 0 1 MONDO:0008384 "rheumatoid nodulosis" 1 6 0 0 0 0 CHEBI:51086 "chemical role" 1 0 0 0 0 0 -MONDO:0001340 "heart cancer" 1 6 0 0 0 1 +MONDO:0001340 "heart cancer" 1 5 0 0 0 1 MONDO:0003313 "endometrioid stromal sarcoma of the vagina" 1 3 0 0 0 1 MONDO:0002954 "superficial multifocal basal cell carcinoma" 1 5 0 0 0 0 MONDO:0031014 "autoimmune gastritis" 1 2 0 0 0 1 MONDO:0032830 "snijders blok-fisher syndrome" 0 1 0 0 0 0 http://identifiers.org/hgnc/9476 "HTRA1" 0 0 0 0 0 0 -MONDO:0006032 "cystitis" 1 11 0 0 0 1 +MONDO:0006032 "cystitis" 1 9 0 0 0 1 CHEBI:75769 "B vitamin" 1 0 0 0 0 0 -MONDO:0011103 "autosomal dominant nonsyndromic hearing loss 3A" 1 6 0 0 0 1 +MONDO:0011103 "autosomal dominant nonsyndromic hearing loss 3A" 1 5 0 0 0 1 MONDO:0011230 "ossification of the posterior longitudinal ligament of the spine" 1 8 0 0 0 0 http://identifiers.org/hgnc/19027 "LRRC8A" 0 0 0 0 0 0 UBERON:0002362 "arachnoid mater" 0 0 0 0 0 0 @@ -17590,7 +17606,7 @@ MONDO:0001944 "mixed malaria" 1 4 0 0 0 0 MONDO:0015445 "autosomal dominant coarctation of aorta" 1 2 0 0 0 1 MONDO:0017950 "microcephalic primordial dwarfism" 0 3 0 0 0 0 MONDO:0032681 "encephalopathy, progressive, early-onset, with episodic rhabdomyolysis" 0 1 0 0 0 0 -MONDO:0001466 "punctate epithelial keratoconjunctivitis" 0 5 0 0 0 0 +MONDO:0001466 "punctate epithelial keratoconjunctivitis" 0 4 0 0 0 0 NCBITaxon:80840 "Burkholderiales" 0 2 0 0 0 0 UBERON:0003709 "circle of Willis" 0 0 0 0 0 0 MONDO:0017520 "symbrachydactyly of hand and foot, bilateral" 0 3 0 0 0 0 @@ -17652,7 +17668,7 @@ MONDO:0010598 "glycogen storage disease IXa1" 1 13 0 0 0 1 MONDO:0032673 "basal ganglia calcification, idiopathic, 7, autosomal recessive" 0 1 0 0 0 0 MONDO:0012649 "obsolete FTSD" 0 0 0 0 0 0 NCIT:C37123 "Neoplastic Spindle-Shaped to Round Cell" 0 0 0 0 0 0 -MONDO:0001117 "methemoglobinemia" 1 8 0 0 0 0 +MONDO:0001117 "methemoglobinemia" 1 6 0 0 0 0 MONDO:0023003 "double fingernail of fifth finger" 0 1 0 0 0 0 MONDO:0013962 "hereditary spastic paraplegia 53" 1 7 0 0 0 1 MONDO:0100261 "peroxisome biogenesis disorder due to PEX3 defect" 1 0 0 0 0 0 @@ -17663,7 +17679,7 @@ MONDO:0013851 "autosomal dominant aplasia and myelodysplasia" 0 5 0 0 0 0 UBERON:3000977 "body external integument structure" 0 0 0 0 0 1 ECTO:9001630 "exposure to endocrine disruptor" 1 0 0 0 0 1 GO:0071735 "IgG immunoglobulin complex" 1 0 0 0 0 0 -MONDO:0011389 "autosomal dominant nonsyndromic hearing loss 16" 1 5 0 0 0 0 +MONDO:0011389 "autosomal dominant nonsyndromic hearing loss 16" 1 4 0 0 0 0 MONDO:0019803 "angioma serpiginosum" 1 9 0 0 0 0 UBERON:0007281 "presumptive midbrain hindbrain boundary" 0 0 0 0 0 1 MONDO:0013648 "familial progressive hyperpigmentation" 1 8 0 0 0 0 @@ -17673,7 +17689,7 @@ MONDO:0020135 "pontocerebellar hypoplasia" 1 8 0 0 0 0 CHEBI:25196 "mercury molecular entity" 0 0 0 0 0 0 GO:0070253 "somatostatin secretion" 1 0 0 0 0 0 MONDO:0044885 "tonsillar lipoma" 1 2 0 0 0 1 -MONDO:0008412 "intestinal schistosomiasis" 1 17 0 0 0 1 +MONDO:0008412 "intestinal schistosomiasis" 1 15 0 0 0 1 http://identifiers.org/hgnc/7849 "NME1" 0 0 0 0 0 0 UBERON:0003054 "roof plate" 0 0 0 0 0 0 GO:1902221 "erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process" 1 0 0 0 0 0 @@ -17697,13 +17713,15 @@ MONDO:0008578 "toe, rotated fifth" 0 1 0 0 0 0 MONDO:0012575 "branchiootorenal syndrome 2" 1 4 0 0 0 1 MONDO:0002084 "obsolete neuroectodermal tumor" 0 0 0 0 0 0 http://identifiers.org/hgnc/3192 "EEF1A2" 0 0 0 0 0 0 +MONDO:8000031 "obsolete subtype of a disorder" 0 1 0 0 0 0 GO:0043227 "membrane-bounded organelle" 1 0 0 0 0 1 http://identifiers.org/hgnc/12009 "TPI1" 0 0 0 0 0 0 CL:0005009 "renal principal cell" 1 0 0 0 0 0 MONDO:0020501 "Crimean-Congo hemorrhagic fever" 1 9 0 0 0 1 +MONDO:8000033 "obsolete group of disorders" 0 1 0 0 0 0 UBERON:0006763 "epithelium of conjunctiva" 0 0 0 0 0 1 ECTO:9001755 "exposure to antimicrobial drug" 1 0 0 0 0 1 -MONDO:0009157 "split hand-foot malformation 6" 1 7 0 0 0 1 +MONDO:0009157 "split hand-foot malformation 6" 1 6 0 0 0 1 MONDO:0011866 "pontocerebellar hypoplasia type 1A" 1 4 0 0 0 1 UBERON:0014881 "distal epiphysis of distal phalanx of manual digit 1" 0 0 0 0 0 1 MONDO:0002993 "pancreatic somatostatinoma" 1 4 0 0 0 0 @@ -17723,7 +17741,7 @@ MONDO:0004520 "intratubular embryonal carcinoma" 1 3 0 0 0 0 MONDO:0020418 "dysphagia lusoria" 0 5 0 0 0 0 MONDO:0009342 "Hirschsprung disease-hearing loss-polydactyly syndrome" 1 6 0 0 0 0 GO:0050891 "multicellular organismal water homeostasis" 1 0 0 0 0 0 -MONDO:0001464 "sigmoid colon cancer" 1 5 0 0 0 1 +MONDO:0001464 "sigmoid colon cancer" 1 4 0 0 0 1 GO:1902338 "negative regulation of apoptotic process involved in morphogenesis" 1 0 0 0 0 1 GO:0045639 "positive regulation of myeloid cell differentiation" 1 0 0 0 0 1 UBERON:0011270 "dorsal trunk" 0 0 0 0 0 0 @@ -17813,7 +17831,7 @@ MONDO:0014122 "myofibromatosis, infantile, 2" 1 3 0 0 0 1 MONDO:0017753 "obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation" 0 3 0 0 0 0 MONDO:0009595 "cartilage-hair hypoplasia" 1 11 0 0 0 0 MONDO:0018889 "hyaline body myopathy" 0 6 0 0 0 0 -MONDO:0015831 "unilateral aplasia of the mullerian ducts" 0 2 0 0 0 0 +MONDO:0015831 "unilateral aplasia of the mullerian ducts" 0 1 0 0 0 0 UBERON:0001630 "muscle organ" 0 0 0 0 0 1 UBERON:0034717 "integumental taste bud" 0 0 0 0 0 1 HP:0012732 "Anorectal anomaly" 1 3 0 0 0 0 @@ -17836,7 +17854,7 @@ CHEBI:60004 "mixture" 1 0 0 0 0 0 UBERON:0006953 "ejaculatory duct epithelium" 0 0 0 0 0 1 http://identifiers.org/hgnc/11071 "SLC9A1" 0 0 0 0 0 0 UBERON:0003277 "skeleton of upper jaw" 0 0 0 0 0 1 -MONDO:0008516 "syndactyly type 5" 1 7 0 0 0 0 +MONDO:0008516 "syndactyly type 5" 1 5 0 0 0 0 MONDO:0005162 "obsolete influenza infection" 0 0 0 0 0 0 MONDO:0010677 "muscular dystrophy, Mabry type" 0 3 0 0 0 0 MONDO:0006589 "occupational dermatitis" 1 7 0 0 0 1 @@ -17879,7 +17897,7 @@ MONDO:0014534 "lissencephaly 6 with microcephaly" 1 1 0 0 0 1 MONDO:0025263 "strongyle infections, equine" 1 2 0 0 0 0 MONDO:0021067 "mediastinal germ cell tumor" 1 2 0 0 0 1 MONDO:0054849 "inflammatory bowel disease 29" 0 1 0 0 0 0 -MONDO:0011842 "Grn-related frontotemporal lobar degeneration with Tdp43 inclusions" 1 6 0 0 0 0 +MONDO:0011842 "Grn-related frontotemporal lobar degeneration with Tdp43 inclusions" 1 5 0 0 0 0 MONDO:0010912 "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement" 1 4 0 0 0 1 MONDO:0004701 "uterine polyp" 1 6 0 0 0 1 HP:0100699 "Scarring" 0 3 0 0 0 0 @@ -17897,11 +17915,11 @@ MONDO:0000738 "obsolete syndromic X-linked intellectual disability" 0 0 0 0 0 0 NCBITaxon:2497577 "Insthoviricetes" 0 1 0 0 0 0 UBERON:0000071 "death stage" 1 0 0 0 0 0 HP:0000135 "Hypogonadism" 1 3 0 0 0 0 -MONDO:0007008 "uremia" 1 7 0 0 0 0 +MONDO:0007008 "uremia" 1 6 0 0 0 0 MONDO:0004374 "adult extraskeletal osteosarcoma" 1 3 0 0 0 1 CHEBI:27177 "L-tyrosine derivative" 1 0 0 0 0 0 MONDO:0006382 "poorly differentiated thyroid gland carcinoma" 1 5 0 0 0 0 -MONDO:0019773 "myelomeningocele" 1 20 0 0 0 0 +MONDO:0019773 "myelomeningocele" 1 19 0 0 0 0 UBERON:0007367 "surface of tongue" 0 0 0 0 0 1 MONDO:0021945 "hearing disorder" 1 4 0 0 0 1 HsapDv:0000143 "49-year-old human stage" 1 0 0 0 0 0 @@ -17909,7 +17927,7 @@ CL:0002092 "bone marrow cell" 1 2 0 0 0 1 MONDO:0016980 "ATR-X-related syndrome" 0 2 0 0 0 0 MONDO:0005946 "rhinosporidiosis" 1 7 0 0 0 1 MONDO:0008141 "ossicular malformations, familial" 0 4 0 0 0 0 -MONDO:0020366 "congenital glaucoma" 1 10 0 0 0 0 +MONDO:0020366 "congenital glaucoma" 1 9 0 0 0 0 MONDO:0003940 "Kummell disease" 1 5 0 0 0 1 MONDO:0011198 "spondyloepimetaphyseal dysplasia, Missouri type" 1 7 0 0 0 0 HP:0010316 "Ebstein anomaly of the tricuspid valve" 1 5 0 0 0 0 @@ -17939,7 +17957,7 @@ MONDO:0032835 "spondyloepiphyseal dysplasia, nishimura type" 0 1 0 0 0 0 UBERON:0035048 "parotid gland excretory duct" 0 0 0 0 0 1 UBERON:0001480 "proximal carpal bone" 0 0 0 0 0 1 HP:0000726 "Dementia" 1 3 0 0 0 0 -MONDO:0015724 "non-distal trisomy 13q" 1 3 0 0 0 0 +MONDO:0015724 "non-distal trisomy 13q" 1 2 0 0 0 0 http://identifiers.org/hgnc/2033 "CLDN10" 0 0 0 0 0 0 GO:0047865 "dimethylglycine dehydrogenase activity" 1 0 0 0 0 0 MONDO:0008514 "syndactyly type 3" 1 7 0 0 0 1 @@ -17959,15 +17977,15 @@ MONDO:0030990 "Kohlschutter-Tonz syndrome-like" 0 1 0 0 0 0 MONDO:0024271 "intestinal helminthiasis" 1 3 0 0 0 1 PATO:0001992 "cellularity" 1 0 0 0 0 0 MONDO:0043087 "thickened earlobes with conductive deafness from incus-stapes abnormalities" 0 3 0 0 0 0 -MONDO:0001256 "arteriovenous hemangioma/malformation" 1 9 0 0 0 0 +MONDO:0001256 "arteriovenous hemangioma/malformation" 1 8 0 0 0 0 CL:0000820 "B-1a B cell" 1 0 0 0 0 0 HP:0012447 "Abnormal myelination" 1 1 0 0 0 0 -MONDO:0011558 "Usher syndrome type 2C" 1 8 0 0 0 0 +MONDO:0011558 "Usher syndrome type 2C" 1 7 0 0 0 0 UBERON:0004133 "salivatory nucleus" 0 0 0 0 0 0 MONDO:0015524 "hyperplastic polyposis syndrome" 1 7 0 0 0 0 MONDO:0005293 "flatfoot" 1 5 0 0 0 0 -MONDO:0011377 "long QT syndrome 3" 1 10 0 0 0 1 -MONDO:0021259 "prostate neoplasm" 1 5 0 0 0 1 +MONDO:0011377 "long QT syndrome 3" 1 9 0 0 0 1 +MONDO:0021259 "prostate neoplasm" 1 4 0 0 0 1 GO:0002682 "regulation of immune system process" 1 0 0 0 0 1 http://identifiers.org/hgnc/24866 "CEP104" 0 0 0 0 0 0 UBERON:0003253 "neck of rib" 0 0 0 0 0 1 @@ -17981,7 +17999,7 @@ UBERON:0004271 "outflow tract pericardium" 0 0 0 0 0 1 MONDO:0003651 "macrotrabecular hepatoblastoma" 1 3 0 0 0 0 MONDO:0044716 "obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome" 0 0 0 0 0 0 MONDO:0023065 "obsolete encephalopathy recurrent of childhood" 0 0 0 0 0 0 -MONDO:0016835 "14q11.2 microduplication syndrome" 1 3 0 0 0 1 +MONDO:0016835 "14q11.2 microduplication syndrome" 1 2 0 0 0 1 UBERON:0001242 "intestinal mucosa" 0 0 0 0 0 1 HP:0002717 "Adrenal overactivity" 0 1 0 0 0 0 UBERON:0003885 "mesometrium" 0 0 0 0 0 1 @@ -17991,6 +18009,7 @@ MONDO:0013046 "glycogen storage disease due to muscle beta-enolase deficiency" 1 MONDO:0006504 "acquired metabolic disease" 1 2 0 0 0 1 UBERON:0004500 "skeletal muscle tissue of deltoid" 0 0 0 0 0 1 MONDO:0008225 "normokalemic periodic paralysis" 0 6 0 0 0 0 +MONDO:0008625 "obsolete urate-binding globulin, decrease 1N" 0 3 0 0 0 0 MONDO:0006792 "hyperglobulinemic purpura" 1 5 0 0 0 0 HP:0100547 "Abnormality of forebrain morphology" 1 1 0 0 0 0 MONDO:0020760 "skin squamous cell carcinoma in situ" 1 1 0 0 0 1 @@ -18004,7 +18023,7 @@ MONDO:0015457 "corpus callosum agenesis-double urinary collecting system syndrom HP:0000370 "Abnormality of the middle ear" 1 1 0 0 0 0 MONDO:0010094 "spondylocarpotarsal synostosis syndrome" 1 10 0 0 0 0 UBERON:0014790 "lingual septum" 0 0 0 0 0 1 -MONDO:0004785 "blepharitis" 1 13 0 0 0 1 +MONDO:0004785 "blepharitis" 1 11 0 0 0 1 http://identifiers.org/hgnc/18475 "ZDHHC9" 0 0 0 0 0 0 UBERON:0003118 "pharyngeal arch artery 1" 0 0 0 0 0 1 UBERON:0003119 "pharyngeal arch artery 2" 0 0 0 0 0 1 @@ -18016,7 +18035,7 @@ NCBITaxon:272561 "Chlamydia trachomatis D/UW-3/CX" 0 1 0 0 0 0 GO:0060759 "regulation of response to cytokine stimulus" 1 0 0 0 0 1 MONDO:0008572 "tibia, hypoplasia or aplasia of, with polydactyly" 0 6 0 0 0 0 MONDO:0020803 "obsolete bundle branch block" 1 1 0 0 0 0 -MONDO:0008383 "rheumatoid arthritis" 1 12 0 0 0 1 +MONDO:0008383 "rheumatoid arthritis" 1 11 0 0 0 1 ENVO:01000646 "lithosphere"@en 1 0 0 0 0 0 GO:0045937 "positive regulation of phosphate metabolic process" 1 0 0 0 0 1 MONDO:0004407 "stroma-dominant and stroma-poor composite ganglioneuroblastoma" 1 3 0 0 0 0 @@ -18032,8 +18051,8 @@ UBERON:0001517 "skin of elbow" 0 0 0 0 0 1 MONDO:0032907 "lymphatic malformation 8" 0 1 0 0 0 0 NBO:0000007 "mouth movement" 1 0 0 0 0 0 MONDO:0015444 "obsolete cleidocranial dysplasia" 0 0 0 0 0 0 -MONDO:0008512 "syndactyly type 1" 1 12 0 0 0 0 -MONDO:0010036 "congenital secretory sodium diarrhea 3" 1 4 0 0 0 1 +MONDO:0008512 "syndactyly type 1" 1 8 0 0 0 0 +MONDO:0010036 "congenital secretory sodium diarrhea 3" 1 3 0 0 0 1 MONDO:0010666 "obsolete Miles-Carpenter syndrome" 0 1 0 0 0 0 MONDO:0017854 "obsolete T-b+ severe combined immunodeficiency" 0 0 0 0 0 0 MONDO:0008424 "sella turcica, bridged" 0 2 0 0 0 0 @@ -18041,7 +18060,6 @@ MONDO:0003731 "adult central nervous system teratoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/12642 "VAMP1" 0 0 0 0 0 0 MONDO:0010972 "hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome" 1 6 0 0 0 0 MONDO:0016500 "acute sensory ataxic neuropathy" 1 4 0 0 0 0 -MONDO:0026768 "warfarin sensitivity, X-linked" 0 1 0 0 0 0 MONDO:0003287 "central nervous system leiomyoma" 1 3 0 0 0 1 UBERON:0010400 "spleen trabecular vein" 0 0 0 0 0 1 MONDO:0030525 "epidermolysis bullosa simplex 2B, generalized intermediate" 0 1 0 0 0 0 @@ -18049,7 +18067,7 @@ MONDO:0056796 "obstructive nephropathy" 1 5 0 0 0 0 MONDO:0010033 "generalized peeling skin syndrome" 1 9 0 0 0 0 http://identifiers.org/hgnc/20778 "TUBB" 0 0 0 0 0 0 CHR:9606-chr3q2 "3q2 (Human)" 0 0 0 0 0 0 -MONDO:0011972 "ovarian hyperstimulation syndrome" 1 9 0 0 0 0 +MONDO:0011972 "ovarian hyperstimulation syndrome" 1 8 0 0 0 0 NCBITaxon:12730 "Human respirovirus 1" 0 1 0 0 0 0 MONDO:0016503 "congenital erosive and vesicular dermatosis" 0 1 0 0 0 0 CL:1001606 "foreskin keratinocyte" 1 1 0 0 0 1 @@ -18077,7 +18095,7 @@ MONDO:0020210 "syndromic hyperopia" 1 2 0 0 0 1 MONDO:0011223 "amyotrophic lateral sclerosis type 4" 1 7 0 0 0 1 MONDO:0015024 "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type" 1 3 0 0 0 1 MONDO:0003928 "uterine corpus myxoid leiomyosarcoma" 1 4 0 0 0 1 -MONDO:0012918 "primary ciliary dyskinesia 10" 1 5 0 0 0 1 +MONDO:0012918 "primary ciliary dyskinesia 10" 1 4 0 0 0 1 MONDO:0005479 "atrial tachycardia" 1 4 0 0 0 0 MONDO:0032876 "neurodevelopmental disorder with absent language and variable seizures" 0 1 0 0 0 0 MONDO:0011148 "Spondylospinal thoracic dysostosis" 1 4 0 0 0 0 @@ -18100,7 +18118,7 @@ CL:0002482 "dermal melanocyte" 1 0 0 0 0 1 CHEBI:36078 "cholanoid" 0 0 0 0 0 0 MONDO:0060724 "glycosylphosphatidylinositol biosynthesis defect 17" 0 2 0 0 0 0 GO:0015712 "hexose phosphate transport" 1 0 0 0 0 0 -MONDO:0001030 "keratoconus, stable condition" 0 5 0 0 0 0 +MONDO:0001030 "keratoconus, stable condition" 0 4 0 0 0 0 MONDO:0014311 "autosomal recessive spinocerebellar ataxia 15" 1 5 0 0 0 1 MONDO:0016343 "obsolete unclassified cardiomyopathy" 0 1 0 0 0 0 UBERON:0001250 "red pulp of spleen" 0 0 0 0 0 0 @@ -18111,13 +18129,13 @@ PATO:0000498 "increased duration" 1 0 0 0 0 1 http://identifiers.org/hgnc/6284 "KCNMA1" 0 0 0 0 0 0 GO:1901135 "carbohydrate derivative metabolic process" 1 0 0 0 0 0 MONDO:0006800 "ideomotor apraxia" 1 6 0 0 0 0 -MONDO:0009293 "glycogen storage disease V" 1 11 0 0 0 1 +MONDO:0009293 "glycogen storage disease V" 1 10 0 0 0 1 http://identifiers.org/hgnc/18640 "LDLRAP1" 0 0 0 0 0 0 CL:2000018 "endothelial cell of coronary artery" 1 0 0 0 0 1 MONDO:0023286 "graphite pneumoconiosis" 0 4 0 0 0 0 MONDO:0008248 "pigmented purpuric eruption" 0 5 0 0 0 0 MONDO:0009179 "recessive dystrophic epidermolysis bullosa" 1 8 0 0 0 0 -MONDO:0025514 "livedoid vasculopathy" 1 9 0 0 0 1 +MONDO:0025514 "livedoid vasculopathy" 1 8 0 0 0 1 MONDO:0000670 "cortical deafness" 1 2 0 0 0 0 MONDO:0004131 "anal verrucous carcinoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/11079 "SLC9A6" 0 0 0 0 0 0 @@ -18138,7 +18156,7 @@ MONDO:0000692 "obsolete Kleine-Levin syndrome" 0 0 0 0 0 0 MONDO:0018748 "linear IgA Dermatosis" 1 7 0 0 0 0 MONDO:0013008 "combined immunodeficiency due to STIM1 deficiency" 1 7 0 0 0 0 CHR:9606-chr17p "17p (Human)" 0 0 0 0 0 0 -MONDO:0006570 "lichen disease" 1 8 0 0 0 0 +MONDO:0006570 "lichen disease" 1 7 0 0 0 0 MONDO:0015982 "obsolete rare genetic intellectual disability" 1 2 0 0 0 0 MONDO:0012386 "trichoscyphodysplasia" 0 4 0 0 0 0 MONDO:0014384 "hypotrichosis 12" 1 4 0 0 0 1 @@ -18148,7 +18166,7 @@ http://identifiers.org/hgnc/11073 "SLC9A3" 0 0 0 0 0 0 MONDO:0004495 "myotonic cataract" 1 6 0 0 0 0 GO:0015804 "neutral amino acid transport" 1 0 0 0 0 0 http://identifiers.org/hgnc/6584 "LHB" 0 0 0 0 0 0 -MONDO:0001270 "stone in bladder diverticulum" 0 5 0 0 0 0 +MONDO:0001270 "stone in bladder diverticulum" 0 4 0 0 0 0 MONDO:0020643 "autism susceptibility 1" 0 0 0 0 0 0 MONDO:0012782 "celiac disease, susceptibility to, 13" 0 1 0 0 0 0 UBERON:0016885 "epithelium of terminal part of digestive tract" 0 0 0 0 0 1 @@ -18164,7 +18182,6 @@ MONDO:0018285 "obsolete X-linked congenital disorder of glycosylation with intel UBERON:0002495 "long bone" 0 0 0 0 0 0 http://identifiers.org/hgnc/9958 "REN" 0 0 0 0 0 0 MONDO:0023255 "glossopalatine ankylosis micrognathia ear anomalies" 0 1 0 0 0 0 -MONDO:0009829 "pallidal degeneration, progressive, with retinitis pigmentosa" 0 3 0 0 0 0 NCBITaxon:169440 "Coelopidae" 0 1 0 0 0 0 MONDO:0014285 "congenital dyserythropoietic anemia type type 1B" 0 4 0 0 0 0 MONDO:0005959 "sick building syndrome" 1 5 0 0 0 0 @@ -18184,6 +18201,7 @@ MONDO:0009409 "hypervitaminosis a, susceptibility to" 0 1 0 0 0 0 MONDO:0012021 "myopia 17, autosomal dominant" 0 2 0 0 0 0 FOODON:00001327 "pu dong"@en 1 0 0 0 0 1 MONDO:0005077 "pertussis" 1 19 0 0 0 1 +http://identifiers.org/hgnc/12013 "TPM4" 0 0 0 0 0 0 http://identifiers.org/hgnc/9713 "PEX19" 0 0 0 0 0 0 CL:0002014 "Kit-negative, Ly-76 high basophilic erythroblast" 1 0 0 0 0 0 HP:0009064 "Generalized lipodystrophy" 1 4 0 0 0 0 @@ -18201,7 +18219,7 @@ http://identifiers.org/hgnc/10680 "SDHA" 0 0 0 0 0 0 http://identifiers.org/hgnc/10682 "SDHC" 0 0 0 0 0 0 MONDO:0006892 "partial sensory epilepsy" 1 3 0 0 0 0 http://identifiers.org/hgnc/10681 "SDHB" 0 0 0 0 0 0 -MONDO:0010259 "retinitis pigmentosa 24" 1 5 0 0 0 0 +MONDO:0010259 "retinitis pigmentosa 24" 1 4 0 0 0 0 NCBITaxon:577468 "Micrococcales incertae sedis" 0 1 0 0 0 0 MONDO:0010774 "striatonigral degeneration, infantile, mitochondrial" 0 5 0 0 0 0 UBERON:0002040 "bronchial artery" 0 0 0 0 0 1 @@ -18227,17 +18245,17 @@ CHR:9606-chr21q "21q (Human)" 0 0 0 0 0 0 HP:0000790 "Hematuria" 1 4 0 0 0 0 MONDO:0001327 "pelvic muscle wasting" 0 3 0 0 0 0 MONDO:0003547 "obsolete histiocytic and dendritic cell cancer" 0 1 0 0 0 0 -MONDO:0011360 "autosomal recessive nonsyndromic hearing loss 14" 1 5 0 0 0 0 +MONDO:0011360 "autosomal recessive nonsyndromic hearing loss 14" 1 4 0 0 0 0 CL:2000071 "mammary microvascular endothelial cell" 1 0 0 0 0 1 MONDO:0014598 "developmental and epileptic encephalopathy, 31" 1 4 0 0 0 1 MONDO:0015735 "severe congenital nemaline myopathy" 1 8 0 0 0 0 UBERON:0000471 "compound organ component" 0 0 0 0 0 0 MONDO:0012414 "neuronal ceroid lipofuscinosis 10" 1 11 0 0 0 1 -MONDO:0005055 "Kaposi's sarcoma" 1 21 0 0 0 0 +MONDO:0005055 "Kaposi's sarcoma" 1 20 0 0 0 0 MONDO:0006535 "obsolete cicatricial pemphigoid" 0 0 0 0 0 0 http://identifiers.org/hgnc/882 "ATR" 0 0 0 0 0 0 CL:2000079 "mesenchymal stem cell of femoral bone marrow" 1 0 0 0 0 1 -MONDO:0021669 "post-infectious disorder" 1 2 0 0 0 1 +MONDO:0021669 "post-infectious disorder" 1 3 0 0 0 1 GO:0015068 "glycine amidinotransferase activity" 1 0 0 0 0 0 MONDO:0017782 "developmental and speech delay due to SOX5 deficiency" 1 2 0 0 0 0 MONDO:0006743 "endocrine tuberculosis" 1 3 0 0 0 1 @@ -18277,14 +18295,14 @@ MONDO:0030449 "deafness, autosomal recessive 118, with cochlear aplasia" 0 1 0 0 UBERON:0011250 "autopod bone" 0 0 0 0 0 1 MONDO:0044777 "premature ovarian failure 14" 0 4 0 0 0 0 UBERON:0000200 "gyrus" 0 0 0 0 0 0 -MONDO:0014110 "cataract 15 multiple types" 1 10 0 0 0 1 +MONDO:0014110 "cataract 15 multiple types" 1 9 0 0 0 1 MONDO:0018184 "gastric linitis plastica" 1 4 0 0 0 0 UBERON:0006617 "left external ear" 0 0 0 0 0 1 http://identifiers.org/hgnc/8983 "PI4KA" 0 0 0 0 0 0 GO:0015739 "sialic acid transport" 1 0 0 0 0 0 MONDO:0003756 "ovarian mucinous neoplasm" 1 5 0 0 0 0 MONDO:0003800 "conventional malignant hemangiopericytoma" 1 3 0 0 0 0 -MONDO:0001721 "urethral intrinsic sphincter deficiency" 0 4 0 0 0 0 +MONDO:0001721 "urethral intrinsic sphincter deficiency" 0 3 0 0 0 0 NCBITaxon:10319 "Varicellovirus" 0 1 0 0 0 0 CL:1001579 "cerebral cortex glial cell" 1 1 0 0 0 1 MONDO:0002422 "adamantinoma" 1 14 0 0 0 0 @@ -18296,7 +18314,7 @@ MONDO:0008460 "splenogonadal fusion-limb defects-micrognathia syndrome" 1 7 0 0 MONDO:0005045 "hypertrophic cardiomyopathy" 1 30 0 0 0 0 MONDO:0018980 "acrofacial dysostosis, Kennedy-Teebi type" 1 4 0 0 0 0 UBERON:0006082 "fundus of urinary bladder" 0 0 0 0 0 0 -MONDO:0024637 "malignant soft tissue neoplasm" 1 2 0 0 0 0 +MONDO:0024637 "malignant soft tissue neoplasm" 1 3 0 0 0 0 MONDO:0013113 "metaphyseal anadysplasia 2" 1 4 0 0 0 1 GO:0046189 "phenol-containing compound biosynthetic process" 1 0 0 0 0 0 MONDO:0013251 "Birbeck granule deficiency" 0 2 0 0 0 0 @@ -18316,7 +18334,7 @@ MONDO:0034145 "oculocerebrodental syndrome" 0 2 0 0 0 0 MONDO:0018078 "soft tissue sarcoma" 1 6 0 0 0 0 MONDO:0008720 "congenital isolated adrenocorticotropic hormone deficiency" 1 11 0 0 0 1 MONDO:0021726 "abdominal cystic lymphangioma" 1 3 0 0 0 1 -MONDO:0001412 "conjunctival concretion" 0 4 0 0 0 0 +MONDO:0001412 "conjunctival concretion" 0 3 0 0 0 0 NCBITaxon:6035 "Encephalitozoon cuniculi" 0 1 0 0 0 0 MONDO:0010926 "familial hypocalciuric hypercalcemia 3" 1 8 0 0 0 1 UBERON:0003380 "cardiac muscle of left atrium" 0 0 0 0 0 1 @@ -18325,7 +18343,7 @@ ENVO:01001226 "terrestrial natural environment"@en 1 0 0 0 0 1 MONDO:0007302 "cervical hypertrichosis with underlying kyphoscoliosis" 0 3 0 0 0 0 MONDO:0002269 "gastroenteritis" 1 8 0 0 0 1 UBERON:0001638 "vein" 0 0 0 0 0 1 -MONDO:0001174 "conjunctival vascular disorder" 1 5 0 0 0 1 +MONDO:0001174 "conjunctival vascular disorder" 1 4 0 0 0 1 MONDO:0018663 "regressive spondylometaphyseal dysplasia" 0 4 0 0 0 0 UBERON:0005045 "mucosa of ethmoidal sinus" 0 0 0 0 0 1 UBERON:0000108 "blastula stage" 1 0 0 0 0 0 @@ -18341,7 +18359,7 @@ MONDO:0016093 "borderline epithelial tumor of ovary" 1 7 0 0 0 0 MONDO:0016380 "acquired hypertrichosis lanuginosa" 1 5 0 0 0 0 MONDO:0016269 "high-grade neuroendocrine carcinoma of the corpus uteri" 1 7 0 0 0 0 UBERON:0015172 "endometrial blood vessel" 0 0 0 0 0 1 -MONDO:0000703 "collagenous colitis" 1 12 0 0 0 0 +MONDO:0000703 "collagenous colitis" 1 11 0 0 0 0 MONDO:0016598 "autosomal recessive secondary polycythemia not associated with VHL gene" 0 3 0 0 0 0 MONDO:0020805 "benign basal cell neoplasm" 1 1 0 0 0 1 MONDO:0019904 "ring chromosome 3" 1 6 0 0 0 1 @@ -18351,14 +18369,14 @@ http://identifiers.org/hgnc/13997 "PRDM12" 0 0 0 0 0 0 ENVO:01000280 "ecozone" 1 0 0 0 0 0 CHR:9606-chr3q29 "3q29 (Human)" 0 0 0 0 0 0 MONDO:0016405 "obsolete sterol metabolism disorder with epilepsy" 0 2 0 0 0 0 -MONDO:0020500 "Marburg hemorrhagic fever" 1 11 0 0 0 1 +MONDO:0020500 "Marburg hemorrhagic fever" 1 10 0 0 0 1 UBERON:0000005 "chemosensory organ" 0 0 0 0 0 1 GO:0006968 "cellular defense response" 1 0 0 0 0 0 CHEBI:59560 "sapropterin" 1 0 0 0 0 0 MONDO:0004371 "spinal multifocal clear cell meningioma" 1 3 0 0 0 0 MONDO:0017826 "null pituitary adenoma" 0 3 0 0 0 0 PATO:0001688 "increased elevation" 1 0 0 0 0 1 -MONDO:0005417 "wet macular degeneration" 1 8 0 0 0 0 +MONDO:0005417 "wet macular degeneration" 1 7 0 0 0 0 MONDO:0007418 "Darwinian tubercle of pinna" 0 3 0 0 0 0 CHEBI:30762 "salicylate" 1 0 0 0 0 0 MONDO:0004062 "intermediate cell type uveal melanoma" 1 3 0 0 0 0 @@ -18387,7 +18405,6 @@ GO:0050804 "modulation of chemical synaptic transmission" 1 0 0 0 0 1 MONDO:0008591 "tremor-nystagmus-duodenal ulcer syndrome" 0 5 0 0 0 0 MONDO:0009672 "spinal muscular atrophy, type III" 1 11 0 0 0 0 MONDO:0005910 "phagocyte bactericidal dysfunction" 1 4 0 0 0 0 -MONDO:0017011 "uniparental disomy of chromosome X" 0 2 0 0 0 0 FOODON:00002501 "multi-component food product"@en 1 0 0 0 0 0 GO:0042105 "alpha-beta T cell receptor complex" 1 0 0 0 0 0 GO:1903788 "positive regulation of glutathione biosynthetic process" 1 0 0 0 0 1 @@ -18408,7 +18425,7 @@ NCBITaxon:144051 "Cripavirus" 0 1 0 0 0 0 GO:0045652 "regulation of megakaryocyte differentiation" 1 0 0 0 0 1 MONDO:0019583 "localized lichen myxedematosus with mixed features of different subtypes" 1 2 0 0 0 0 MONDO:0010490 "SSR4-CDG" 1 7 0 0 0 0 -MONDO:0002332 "splenic disorder" 1 10 0 0 0 1 +MONDO:0002332 "splenic disorder" 1 9 0 0 0 1 MONDO:0005838 "mansonelliasis" 1 9 0 0 0 0 MONDO:0018903 "sarcocystosis" 1 9 0 0 0 0 MONDO:0001360 "blind hypotensive eye" 0 4 0 0 0 0 @@ -18427,7 +18444,7 @@ UBERON:0016570 "lamina of gray matter of spinal cord" 0 0 0 0 0 1 IAO:8000000 "ontology module"@en 0 0 0 0 0 0 MONDO:0000054 "obsolete macular dystrophy" 0 0 0 0 0 0 MONDO:0003335 "chronic polyneuropathy" 1 3 0 0 0 1 -MONDO:0001395 "macular keratitis" 0 5 0 0 0 0 +MONDO:0001395 "macular keratitis" 0 4 0 0 0 0 GO:0008212 "mineralocorticoid metabolic process" 1 0 0 0 0 0 http://identifiers.org/hgnc/2810 "GSDME" 0 0 0 0 0 0 UBERON:0034711 "cortical preplate" 0 0 0 0 0 0 @@ -18436,7 +18453,7 @@ UBERON:0000042 "serous membrane" 0 0 0 0 0 0 MONDO:0009117 "obsolete disorganization, mouse, homolog of" 0 2 0 0 0 0 GO:1905278 "positive regulation of epithelial tube formation" 1 0 0 0 0 1 CL:0000459 "noradrenergic cell" 1 0 0 0 0 1 -MONDO:0001551 "ulceration of vulva" 0 7 0 0 0 1 +MONDO:0001551 "ulceration of vulva" 0 6 0 0 0 1 MONDO:0006528 "bacterial exanthem" 1 2 0 0 0 0 UBERON:0004277 "eye muscle" 0 0 0 0 0 1 NCBITaxon:37727 "Talaromyces marneffei" 0 1 0 0 0 0 @@ -18458,12 +18475,12 @@ MONDO:0015254 "schistosomiasis" 1 18 0 0 0 0 NCBITaxon:6329 "Trichinellida" 0 1 0 0 0 0 http://identifiers.org/hgnc/21307 "DSG4" 0 0 0 0 0 0 MONDO:0014399 "ataxia-telangiectasia-like disorder 2" 0 4 0 0 0 1 -MONDO:0002373 "benign mesothelioma" 1 6 0 0 0 1 +MONDO:0002373 "benign mesothelioma" 1 4 0 0 0 1 MONDO:0002112 "benign peritoneal mesothelioma" 1 3 0 0 0 1 MONDO:0015537 "necrobiotic xanthogranuloma" 1 8 0 0 0 0 MONDO:0025459 "rinderpest" 1 2 0 0 0 0 MONDO:0013100 "atrial fibrillation, familial, 8" 0 4 0 0 0 0 -MONDO:0011364 "autosomal recessive nonsyndromic hearing loss 16" 1 5 0 0 0 1 +MONDO:0011364 "autosomal recessive nonsyndromic hearing loss 16" 1 4 0 0 0 1 MONDO:0009521 "leukemia, acute myelocytic, with polyposis coli and colon cancer" 0 3 0 0 0 0 GO:0015106 "bicarbonate transmembrane transporter activity" 1 0 0 0 0 0 GO:0005996 "monosaccharide metabolic process" 1 0 0 0 0 0 @@ -18515,7 +18532,7 @@ UBERON:0001867 "cartilage of external ear" 0 0 0 0 0 1 UBERON:0008346 "duodenal epithelium" 0 0 0 0 0 1 MONDO:0010270 "syndromic X-linked intellectual disability 7" 1 9 0 0 0 0 MONDO:0006347 "pancreatic large cell neuroendocrine carcinoma" 1 3 0 0 0 1 -MONDO:0001230 "acute orbital inflammation" 0 6 0 0 0 0 +MONDO:0001230 "acute orbital inflammation" 0 4 0 0 0 0 GO:0051648 "vesicle localization" 1 0 0 0 0 0 HsapDv:0000101 "7-year-old human stage" 1 0 0 0 0 0 UBERON:0001705 "nail" 0 0 0 0 0 0 @@ -18525,14 +18542,14 @@ MONDO:0007845 "Kaposi sarcoma, susceptibility to" 0 3 0 0 0 1 MONDO:0007213 "Ballard syndrome" 1 8 0 0 0 0 http://identifiers.org/hgnc/195 "ADAM17" 0 0 0 0 0 0 MONDO:0041186 "Rowell syndrome" 1 2 0 0 0 0 -MONDO:0014215 "primary ciliary dyskinesia 27" 1 4 0 0 0 1 +MONDO:0014215 "primary ciliary dyskinesia 27" 1 3 0 0 0 1 http://identifiers.org/hgnc/6172 "STT3A" 0 0 0 0 0 0 UBERON:0000087 "inner cell mass" 0 0 0 0 0 0 GO:0004559 "alpha-mannosidase activity" 1 0 0 0 0 0 -MONDO:0014216 "primary ciliary dyskinesia 28" 1 4 0 0 0 1 +MONDO:0014216 "primary ciliary dyskinesia 28" 1 3 0 0 0 1 MONDO:0002936 "scrotum basal cell carcinoma" 1 3 0 0 0 1 UBERON:0003321 "mesenchyme of knee" 0 0 0 0 0 1 -MONDO:0007473 "Duane retraction syndrome" 1 16 0 0 0 0 +MONDO:0007473 "Duane retraction syndrome" 1 15 0 0 0 0 NCBITaxon:135625 "Pasteurellales" 0 2 0 0 0 0 MONDO:0005897 "obsolete paratyphoid fever" 0 0 0 0 0 0 MONDO:0011449 "Salla disease" 1 9 0 0 0 0 @@ -18541,6 +18558,7 @@ http://identifiers.org/hgnc/11566 "TAPBP" 0 0 0 0 0 0 GO:1900425 "negative regulation of defense response to bacterium" 1 0 0 0 0 1 GO:0042073 "intraciliary transport" 1 0 0 0 0 0 MONDO:0015052 "obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies" 1 2 0 0 0 0 +MONDO:0100490 "breasts and/or nipples, aplasia or hypoplasia of, 1" 0 1 0 0 0 0 MONDO:0009830 "parkinsonian-pyramidal syndrome" 1 9 0 0 0 0 GO:0016407 "acetyltransferase activity" 1 0 0 0 0 0 MONDO:0043077 "weinstein kliman scully syndrome" 0 3 0 0 0 0 @@ -18560,7 +18578,6 @@ MONDO:0013603 "myopia 20, autosomal dominant" 0 2 0 0 0 0 MONDO:0007223 "brachydactyly type E1" 1 4 0 0 0 1 GO:0009967 "positive regulation of signal transduction" 1 0 0 0 0 1 MONDO:0006289 "obsolete malignant epitheloid mesothelioma" 0 1 0 0 0 0 -MONDO:0007139 "Antipyrine metabolism" 0 2 0 0 0 0 CHEBI:35544 "EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor" 1 0 0 0 0 0 MONDO:0011491 "epilepsy, idiopathic generalized, susceptibility to, 7" 0 3 0 0 0 0 UBERON:0000015 "non-material anatomical boundary" 0 0 0 0 0 0 @@ -18616,7 +18633,7 @@ MONDO:0032744 "spermatogenic failure 37" 0 1 0 0 0 0 MONDO:0015101 "Marin-Amat syndrome" 0 3 0 0 0 0 UBERON:0012070 "palatal tooth" 0 0 0 0 0 1 MONDO:0022912 "cutis verticis gyrata mental deficiency" 0 1 0 0 0 0 -MONDO:0004918 "central corneal ulcer" 0 5 0 0 0 0 +MONDO:0004918 "central corneal ulcer" 0 4 0 0 0 0 UBERON:0034723 "fin taste bud" 0 0 0 0 0 1 MONDO:0008939 "isolated cerebellar hypoplasia/agenesis" 1 10 0 0 0 0 MONDO:0007022 "xanthogranulomatous pyelonephritis" 1 9 0 0 0 0 @@ -18640,7 +18657,7 @@ MONDO:0010769 "hairy ears, Y-linked" 0 3 0 0 0 0 MONDO:0008706 "Ackerman syndrome" 1 7 0 0 0 0 MONDO:0013484 "cataract 36" 1 3 0 0 0 1 HP:0003521 "Disproportionate short-trunk short stature" 1 1 0 0 0 0 -MONDO:0001548 "hepatic coma" 1 6 0 0 0 0 +MONDO:0001548 "hepatic coma" 1 5 0 0 0 0 MONDO:0008059 "Naegeli-Franceschetti-Jadassohn syndrome" 1 8 0 0 0 0 MONDO:0008841 "ataxia-telangiectasia with generalized skin pigmentation and early death" 0 4 0 0 0 0 UBERON:0019269 "gray matter of diencephalon" 0 0 0 0 0 1 @@ -18648,6 +18665,7 @@ http://identifiers.org/hgnc/804 "ATP1B1" 0 0 0 0 0 0 UBERON:0010557 "pedal digit 1 metatarsal cartilage element" 0 0 0 0 0 1 MONDO:0004877 "transient neonatal thrombocytopenia" 0 5 0 0 0 1 MONDO:0024262 "massive neonatal aspiration syndrome" 0 1 0 0 0 0 +MONDO:0013538 "obsolete alpha-2-macroglobulin deficiency" 0 3 0 0 0 0 MONDO:0018963 "hereditary methemoglobinemia" 1 10 0 0 0 1 MONDO:0007791 "familial hypocalciuric hypercalcemia 1" 1 11 0 0 0 1 GO:0001894 "tissue homeostasis" 1 0 0 0 0 0 @@ -18681,7 +18699,7 @@ MONDO:0100145 "obsolete presymptomatic COVID-19 infection" 1 0 0 0 0 0 MONDO:0000161 "obsolete adrenal hyperplasia" 0 1 0 0 0 0 UBERON:0009549 "hepatic sinusoid of right of lobe of liver" 0 0 0 0 0 1 MONDO:0009989 "obsolete enhanced S-cone syndrome" 0 0 0 0 0 0 -MONDO:0014211 "primary ciliary dyskinesia 26" 1 4 0 0 0 1 +MONDO:0014211 "primary ciliary dyskinesia 26" 1 3 0 0 0 1 PATO:0001690 "contractile" 1 0 0 0 0 0 UBERON:0002424 "oral epithelium" 0 0 0 0 0 1 MONDO:0016490 "hemoglobin C-beta-thalassemia syndrome" 1 3 0 0 0 0 @@ -18715,7 +18733,7 @@ MONDO:0018259 "didymosis aplasticosebacea" 0 3 0 0 0 0 MONDO:0014727 "immunodeficiency 45" 0 2 0 0 0 0 UBERON:0005156 "reproductive structure" 0 0 0 0 0 1 UBERON:0010579 "manual digit 5 phalanx pre-cartilage condensation" 0 0 0 0 0 1 -MONDO:0004621 "upper lip cancer" 1 5 0 0 0 1 +MONDO:0004621 "upper lip cancer" 1 3 0 0 0 1 MONDO:0013896 "Joubert syndrome 18" 1 4 0 0 0 1 MONDO:0011790 "Amish lethal microcephaly" 1 7 0 0 0 0 CL:1000803 "kidney inner medulla interstitial cell" 0 1 0 0 0 1 @@ -18736,13 +18754,13 @@ MONDO:0001208 "acute respiratory failure" 1 4 0 0 0 1 NCBITaxon:33347 "Euheteroptera" 0 1 0 0 0 0 MONDO:0022412 "obsolete albinism immunodeficiency" 0 1 0 0 0 0 MONDO:0001652 "scrotum melanoma" 1 3 0 0 0 1 -MONDO:0005492 "urticaria" 1 11 0 0 0 0 +MONDO:0005492 "urticaria" 1 12 0 0 0 0 http://identifiers.org/hgnc/9607 "PTHLH" 0 0 0 0 0 0 MONDO:0019294 "mixed dermis disorder" 0 2 0 0 0 0 UBERON:0004216 "lower arm nerve" 0 0 0 0 0 1 MONDO:0007991 "microcephaly-deafness-intellectual disability syndrome" 1 7 0 0 0 0 HP:0002156 "Homocystinuria" 1 3 0 0 0 0 -MONDO:0005550 "infectious disease" 1 10 0 0 0 1 +MONDO:0005550 "infectious disease" 1 13 0 0 0 1 MONDO:0001638 "protein-deficiency anemia" 0 5 0 0 0 0 MONDO:0000028 "obsolete epilepsy, hot water" 0 0 0 0 0 0 MONDO:0014701 "spondyloepiphyseal dysplasia, Stanescu type" 0 4 0 0 0 0 @@ -18759,7 +18777,7 @@ HP:0011110 "Recurrent tonsillitis" 1 3 0 0 0 0 http://identifiers.org/hgnc/6665 "LOXL1" 0 0 0 0 0 0 CHEBI:33318 "main group element atom" 1 0 0 0 0 0 MONDO:0008073 "familial juvenile hyperuricemic nephropathy type 1" 1 12 0 0 0 1 -MONDO:0006956 "Rickettsiosis" 1 8 0 0 0 1 +MONDO:0006956 "Rickettsiosis" 1 9 0 0 0 1 GO:0035735 "intraciliary transport involved in cilium assembly" 1 0 0 0 0 1 MONDO:0019078 "Ritscher-Schinzel syndrome" 1 10 0 0 0 0 MONDO:0004358 "subglottis carcinoma" 1 4 0 0 0 1 @@ -18767,9 +18785,9 @@ MONDO:0007148 "appendicitis, proneness to" 0 1 0 0 0 0 MONDO:0012282 "Al-Gazali syndrome" 1 5 0 0 0 0 MONDO:0017390 "obsolete methylmalonic acidemia without homocystinuria" 1 2 0 0 0 0 http://identifiers.org/hgnc/12406 "TUB" 0 0 0 0 0 0 -MONDO:0014722 "Roifman syndrome" 0 6 0 0 0 0 +MONDO:0014722 "Roifman syndrome" 0 7 0 0 0 0 CHEBI:35545 "bipyridine" 0 0 0 0 0 0 -MONDO:0001752 "alveolar periostitis" 1 6 0 0 0 0 +MONDO:0001752 "alveolar periostitis" 1 5 0 0 0 0 MONDO:0005632 "acute chest syndrome" 1 7 0 0 0 0 MONDO:0014852 "obsolete palmoplantar carcinoma, multiple self-healing" 0 0 0 0 0 0 CHEBI:84124 "D-tyrosine derivative" 1 0 0 0 0 0 @@ -18790,7 +18808,7 @@ UBERON:0007240 "tunica adventitia of artery" 0 0 0 0 0 1 GO:0004509 "steroid 21-monooxygenase activity" 1 0 0 0 0 0 MONDO:0004400 "malignant type A thymoma" 1 4 0 0 0 0 MONDO:0020762 "diencephalic-mesencephalic junction dysplasia syndrome 2" 0 1 0 0 0 0 -MONDO:0019873 "4p16.3 microduplication syndrome" 1 5 0 0 0 1 +MONDO:0019873 "4p16.3 microduplication syndrome" 1 4 0 0 0 1 UBERON:0004475 "musculature of hip" 0 0 0 0 0 1 MONDO:0029143 "intellectual developmental disorder with hypertelorism and distinctive facies" 0 1 0 0 0 0 UBERON:0008772 "proximal epiphysis of tibia" 0 0 0 0 0 1 @@ -18802,7 +18820,7 @@ UBERON:0014775 "prosomere" 0 0 0 0 0 1 MONDO:0000382 "respiratory system benign neoplasm" 1 3 0 0 0 1 http://identifiers.org/hgnc/4122 "GALNS" 0 0 0 0 0 0 MONDO:0017858 "acute erythroid leukemia" 1 12 0 0 0 0 -MONDO:0019040 "chromosomal disorder" 1 6 0 0 0 0 +MONDO:0019040 "chromosomal disorder" 1 8 0 0 0 0 MONDO:0021194 "obsolete disease by subcellular system affected" 1 0 0 0 0 0 http://identifiers.org/hgnc/11506 "SYP" 0 0 0 0 0 0 UBERON:0016542 "limbic cortex" 0 0 0 0 0 1 @@ -18821,7 +18839,7 @@ CHEBI:34905 "paraquat" 1 0 0 0 0 0 MONDO:0008754 "alopecia - contractures - dwarfism - intellectual disability syndrome" 1 6 0 0 0 0 MONDO:0007063 "obsolete long bone adamantinoma" 1 0 0 0 0 0 MONDO:0000163 "obsolete breast-ovarian cancer, familial, susceptibility to" 0 0 0 0 0 0 -MONDO:0002056 "breast fibroadenoma" 1 11 0 0 0 0 +MONDO:0002056 "breast fibroadenoma" 1 10 0 0 0 0 MONDO:0006838 "lupus vulgaris" 1 5 0 0 0 0 CHEBI:33848 "polycyclic arene" 1 0 0 0 0 0 http://identifiers.org/hgnc/18466 "RNASEH1" 0 0 0 0 0 0 @@ -18876,7 +18894,7 @@ HP:0002239 "Gastrointestinal hemorrhage" 1 3 0 0 0 0 GO:0051968 "positive regulation of synaptic transmission, glutamatergic" 1 0 0 0 0 1 CL:0000223 "endodermal cell" 1 1 0 0 0 0 GO:0016684 "oxidoreductase activity, acting on peroxide as acceptor" 1 0 0 0 0 0 -MONDO:0013405 "retinitis pigmentosa 49" 1 4 0 0 0 1 +MONDO:0013405 "retinitis pigmentosa 49" 1 3 0 0 0 1 NCBITaxon:2732406 "Kitrinoviricota" 0 1 0 0 0 0 MONDO:0015012 "mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders" 0 3 0 0 0 0 NCBITaxon:33743 "Kyasanur Forest disease virus" 0 1 0 0 0 0 @@ -18895,7 +18913,7 @@ MONDO:0044956 "paranasal sinus mucoepidermoid carcinoma" 1 1 0 0 0 1 MONDO:0003203 "obsolete pituitary carcinoma" 0 0 0 0 0 0 MONDO:0008118 "odontomatosis-aortae esophagus stenosis syndrome" 1 6 0 0 0 0 NCBITaxon:1824 "Nocardia asteroides" 0 1 0 0 0 0 -MONDO:0001672 "bronchus cancer" 1 6 0 0 0 1 +MONDO:0001672 "bronchus cancer" 1 4 0 0 0 1 http://identifiers.org/hgnc/735 "ASAH1" 0 0 0 0 0 0 MONDO:0024556 "epilepsy, familial focal, with variable foci 1" 1 4 0 0 0 1 MONDO:0015797 "UV-sensitive syndrome" 1 10 0 0 0 0 @@ -18951,7 +18969,6 @@ MONDO:0003453 "conjunctival intraepithelial neoplasm" 0 5 0 0 0 1 MONDO:0016954 "partial duplication of the long arm of chromosome 3" 1 4 0 0 0 1 MONDO:0016958 "partial duplication of the long arm of chromosome 7" 1 4 0 0 0 1 http://identifiers.org/hgnc/4922 "HK1" 0 0 0 0 0 0 -MONDO:0010705 "ouabain resistance" 0 1 0 0 0 0 http://identifiers.org/hgnc/2610 "CYP2A6" 0 0 0 0 0 0 HP:0001005 "Dermatological manifestations of systemic disorders" 0 1 0 0 0 0 MONDO:0009337 "Hennekam lymphangiectasia-lymphedema syndrome 1" 1 4 0 0 0 1 @@ -18967,7 +18984,7 @@ GO:0002281 "macrophage activation involved in immune response" 1 0 0 0 0 1 GO:0043032 "positive regulation of macrophage activation" 1 0 0 0 0 1 MONDO:0016142 "qualitative or quantitative defects of beta-sarcoglycan" 0 5 0 0 0 1 UBERON:0003261 "thyroid primordium endoderm" 0 0 0 0 0 1 -MONDO:0012434 "arrhythmogenic right ventricular dysplasia 10" 1 6 0 0 0 1 +MONDO:0012434 "arrhythmogenic right ventricular dysplasia 10" 1 5 0 0 0 1 http://identifiers.org/hgnc/6823 "MAN1B1" 0 0 0 0 0 0 NCBITaxon:11617 "Arenaviridae" 0 1 0 0 0 0 CL:3000000 "ciliated epithelial cell of esophagus" 1 0 0 0 0 1 @@ -18985,10 +19002,10 @@ MONDO:0020592 "disorder of pharynx" 1 3 0 0 0 1 MONDO:0017461 "familial isolated clinodactyly of fingers" 1 3 0 0 0 0 MONDO:0014679 "polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis" 0 4 0 0 0 0 UBERON:0001076 "neural spine" 0 0 0 0 0 0 -MONDO:0013407 "retinitis pigmentosa 47" 1 4 0 0 0 1 +MONDO:0013407 "retinitis pigmentosa 47" 1 3 0 0 0 1 MONDO:0017944 "invasive non-typhoidal salmonellosis" 1 7 0 0 0 0 MONDO:0011133 "deaf blind hypopigmentation syndrome, Yemenite type" 1 6 0 0 0 0 -MONDO:0006939 "pyelonephritis" 1 12 0 0 0 0 +MONDO:0006939 "pyelonephritis" 1 9 0 0 0 0 CHR:9606-chr20q11.2 "20q11.2 (Human)" 0 0 0 0 0 0 MONDO:0021524 "benign neoplasm of buccal mucosa" 1 4 0 0 0 1 MONDO:0014282 "hereditary spastic paraplegia 72" 1 5 0 0 0 1 @@ -18996,16 +19013,16 @@ MONDO:0015122 "obsolete rare diabetes mellitus" 1 2 0 0 0 0 CL:1000504 "kidney medulla cell" 0 1 0 0 0 1 CL:1000484 "Purkinje myocyte of atrioventricular bundle" 1 1 0 0 0 1 MONDO:0016953 "partial duplication of the long arm of chromosome 2" 1 4 0 0 0 1 -MONDO:0016955 "partial duplication of the long arm of chromosome 4" 1 6 0 0 0 1 +MONDO:0016955 "partial duplication of the long arm of chromosome 4" 1 5 0 0 0 1 MONDO:0016957 "partial duplication of the long arm of chromosome 6" 1 3 0 0 0 1 UBERON:0006239 "future central tendon" 0 0 0 0 0 1 MONDO:0016959 "partial duplication of the long arm of chromosome 8" 0 1 0 0 0 1 -MONDO:0018669 "snakebite envenomation" 0 4 0 0 0 0 +MONDO:0018669 "snakebite envenomation" 0 3 0 0 0 0 GO:0051154 "negative regulation of striated muscle cell differentiation" 1 0 0 0 0 1 MONDO:0030518 "trichothiodystrophy 9, nonphotosensitive" 0 1 0 0 0 0 HP:0002414 "Spina bifida" 1 4 0 0 0 0 http://identifiers.org/hgnc/33862 "GRXCR2" 0 0 0 0 0 0 -MONDO:0001203 "prolapse of lacrimal gland" 0 5 0 0 0 0 +MONDO:0001203 "prolapse of lacrimal gland" 0 4 0 0 0 0 MONDO:0030517 "trichothiodystrophy 8, nonphotosensitive" 0 1 0 0 0 0 CL:1000708 "ureter adventitial cell" 0 1 0 0 0 1 NCBITaxon:2743694 "Cyprininae" 0 1 0 0 0 0 @@ -19015,6 +19032,7 @@ MONDO:0006061 "cervical artery dissection" 1 1 0 0 0 0 UBERON:0014770 "palpebral artery" 0 0 0 0 0 1 MONDO:0032841 "Usher syndrome, type 1M" 0 1 0 0 0 0 UBERON:0009712 "endocardium of right ventricle" 0 0 0 0 0 1 +MONDO:0022109 "obsolete catatrichy" 0 4 0 0 0 0 MONDO:0014264 "otosclerosis 10" 0 1 0 0 0 0 MONDO:0004411 "duodenal gastrin-producing neuroendocrine tumor" 1 4 0 0 0 1 NCBITaxon:147545 "Eurotiomycetes" 0 1 0 0 0 0 @@ -19023,13 +19041,13 @@ MONDO:0014820 "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic http://identifiers.org/hgnc/18810 "CATSPER2" 0 0 0 0 0 0 MONDO:0002744 "fallopian tube mucinous adenocarcinoma" 1 3 0 0 0 1 MONDO:0000477 "focal dystonia" 1 3 0 0 0 0 -MONDO:0010975 "arrhythmogenic right ventricular dysplasia 2" 1 6 0 0 0 1 +MONDO:0010975 "arrhythmogenic right ventricular dysplasia 2" 1 5 0 0 0 1 UBERON:0036422 "wall of pulmonary artery" 0 0 0 0 0 1 ECTO:1000007 "exposure to high temperature environment" 1 0 0 0 0 0 MONDO:0022555 "Beardwell syndrome" 0 2 0 0 0 0 MONDO:0008112 "obsolete Goldenhar syndrome" 0 0 0 0 0 0 MONDO:0000375 "bronchus carcinoma in situ" 1 3 0 0 0 1 -MONDO:0005109 "HIV infectious disease" 1 11 0 0 0 1 +MONDO:0005109 "HIV infectious disease" 1 9 0 0 0 1 MONDO:0012471 "Aicardi-Goutieres syndrome 3" 1 5 0 0 0 1 MONDO:0012472 "Aicardi-Goutieres syndrome 4" 1 5 0 0 0 1 MONDO:0012673 "colorectal cancer, susceptibility to, 2" 0 1 0 0 0 0 @@ -19054,11 +19072,11 @@ MONDO:0004148 "gallbladder papillary neoplasm with an associated invasive carcin MONDO:0005572 "polycythemia due to hypoxia" 1 4 0 0 0 0 MONDO:0008089 "neutropenia, chronic familial" 0 6 0 0 0 0 CHEBI:32600 "tetracene" 1 0 0 0 0 0 -MONDO:0012327 "autosomal recessive nonsyndromic hearing loss 46" 1 5 0 0 0 0 +MONDO:0012327 "autosomal recessive nonsyndromic hearing loss 46" 1 4 0 0 0 0 GO:0042446 "hormone biosynthetic process" 1 0 0 0 0 0 MONDO:0017706 "disorder of carbohydrate absorption and transport" 0 2 0 0 0 0 MONDO:0009389 "hyperlysinemia due to defect in lysine transport into mitochondria" 0 4 0 0 0 0 -MONDO:0011102 "autosomal dominant nonsyndromic hearing loss 12" 1 5 0 0 0 1 +MONDO:0011102 "autosomal dominant nonsyndromic hearing loss 12" 1 4 0 0 0 1 MONDO:0002705 "breast mucinous cystadenocarcinoma" 1 3 0 0 0 1 MONDO:0007380 "lattice corneal dystrophy type I" 1 9 0 0 0 0 GO:0006778 "porphyrin-containing compound metabolic process" 1 0 0 0 0 0 @@ -19078,7 +19096,7 @@ MONDO:0017812 "segmental progressive overgrowth syndrome with fibroadipose hyper http://identifiers.org/hgnc/18368 "PADI4" 0 0 0 0 0 0 UBERON:0003513 "trunk blood vessel" 0 0 0 0 0 1 MONDO:0003841 "heart lipoma" 1 3 0 0 0 1 -MONDO:0005218 "muscular disorder" 1 3 0 0 0 1 +MONDO:0005218 "muscular disorder" 1 4 0 0 0 1 MONDO:0005844 "chalazion" 1 8 0 0 0 0 NCBITaxon:10375 "Lymphocryptovirus" 0 1 0 0 0 0 MONDO:0018344 "periodic paralysis with transient compartment-like syndrome" 0 3 0 0 0 0 @@ -19088,7 +19106,7 @@ MONDO:0014330 "obsolete eculizumab, poor response to" 0 2 0 0 0 0 MONDO:0019731 "AApoAI amyloidosis" 0 3 0 0 0 0 http://identifiers.org/hgnc/16966 "ZMYND11" 0 0 0 0 0 0 MONDO:0100347 "carcinoid syndrome" 0 8 0 0 0 1 -MONDO:0019296 "subcutaneous tissue disorder" 1 2 0 0 0 1 +MONDO:0019296 "subcutaneous tissue disorder" 1 5 0 0 0 1 MONDO:0006281 "lung signet ring cell carcinoma" 1 5 0 0 0 1 FOODON:03400652 "04 nuts and seeds (ccpr)"@en 1 1 0 0 0 0 MONDO:0012916 "chromosome 2p16.1-p15 deletion syndrome" 1 9 0 0 0 1 @@ -19132,7 +19150,7 @@ http://identifiers.org/hgnc/2323 "CPS1" 0 0 0 0 0 0 CL:0000114 "surface ectodermal cell" 0 1 0 0 0 0 MONDO:0020067 "infectious encephalitis" 1 5 0 0 0 1 MONDO:0017310 "Marfan and Marfan-related disorder" 0 2 0 0 0 0 -MONDO:0011284 "astigmatism" 1 11 0 0 0 0 +MONDO:0011284 "astigmatism" 1 9 0 0 0 0 http://identifiers.org/hgnc/29160 "FASTKD2" 0 0 0 0 0 0 MONDO:0002171 "giant cell tumor" 1 5 0 0 0 0 MONDO:0013955 "mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" 1 5 0 0 0 0 @@ -19171,8 +19189,8 @@ GO:0005125 "cytokine activity" 1 0 0 0 0 0 HP:0004297 "Abnormality of the biliary system" 1 1 0 0 0 0 MONDO:0014029 "osteogenesis imperfecta type 14" 1 6 0 0 0 1 MONDO:0018968 "iniencephaly" 1 8 0 0 0 0 -MONDO:0012326 "autosomal recessive nonsyndromic hearing loss 42" 1 5 0 0 0 1 -MONDO:0019810 "toxic epidermal necrolysis" 1 10 0 0 0 0 +MONDO:0012326 "autosomal recessive nonsyndromic hearing loss 42" 1 4 0 0 0 1 +MONDO:0019810 "toxic epidermal necrolysis" 1 9 0 0 0 0 MONDO:0003562 "rete testis neoplasm" 1 3 0 0 0 1 PATO:0000947 "elliptic" 1 0 0 0 0 0 MONDO:0000174 "obsolete split-hand/foot malformation with long bone deficiency" 0 0 0 0 0 0 @@ -19185,7 +19203,7 @@ MONDO:0019442 "obsolete congenital toxoplasmosis" 0 0 0 0 0 0 MONDO:0021218 "placenta neoplasm" 1 2 0 0 0 1 MONDO:0032821 "myopathy, congenital, progressive, with scoliosis" 0 1 0 0 0 0 GO:0098840 "protein transport along microtubule" 1 0 0 0 0 0 -MONDO:0017602 "ALK-positive anaplastic large cell lymphoma" 1 5 0 0 0 0 +MONDO:0017602 "ALK-positive anaplastic large cell lymphoma" 1 4 0 0 0 0 HP:0001417 "X-linked inheritance" 1 3 0 0 0 0 MONDO:0014496 "mitochondrial complex III deficiency nuclear type 9" 1 4 0 0 0 1 CHEBI:84410 "sphingoid base(1+)" 1 0 0 0 0 0 @@ -19204,7 +19222,7 @@ MONDO:0013366 "spondylocostal dysostosis 4, autosomal recessive" 1 4 0 0 0 1 MONDO:0004011 "obsolete familial melanoma" 0 0 0 0 0 0 NCBITaxon:1593277 "Onygenales incertae sedis" 0 1 0 0 0 0 MONDO:0018712 "composite hemangioendothelioma" 1 6 0 0 0 0 -MONDO:0005404 "myalgic encephalomeyelitis/chronic fatigue syndrome" 1 11 0 0 0 0 +MONDO:0005404 "myalgic encephalomeyelitis/chronic fatigue syndrome" 1 9 0 0 0 0 http://identifiers.org/hgnc/5012 "HMMR" 0 0 0 0 0 0 MONDO:0013085 "neuroblastoma, susceptibility to, 5" 0 1 0 0 0 0 MONDO:0014094 "severe congenital hypochromic anemia with ringed sideroblasts" 1 6 0 0 0 0 @@ -19212,7 +19230,7 @@ MONDO:0018436 "megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)" 1 MONDO:0100370 "acute hepatitis B virus infection" 1 1 0 0 0 1 UBERON:0034707 "differentiating neuroepithelium" 0 0 0 0 0 0 MONDO:0015081 "obsolete neuroendocrine tumor with other location" 0 2 0 0 0 0 -MONDO:0006759 "femoral neuropathy" 1 9 0 0 0 1 +MONDO:0006759 "femoral neuropathy" 1 7 0 0 0 1 UBERON:0002367 "prostate gland" 0 0 0 0 0 0 MONDO:0006842 "lymphangiomyoma" 1 5 0 0 0 0 MONDO:0020786 "obsolete short sleep, familial natural, 2" 0 1 0 0 0 0 @@ -19221,11 +19239,11 @@ NCBITaxon:7524 "Hemiptera" 0 2 0 0 0 0 MONDO:0010197 "whistling face syndrome, recessive form" 0 6 0 0 0 0 MONDO:0023038 "eccentrochondrodysplasia" 0 2 0 0 0 0 MONDO:0013950 "peroxisome biogenesis disorder 11B" 0 4 0 0 0 0 -MONDO:0011351 "autosomal recessive nonsyndromic hearing loss 21" 1 6 0 0 0 1 +MONDO:0011351 "autosomal recessive nonsyndromic hearing loss 21" 1 5 0 0 0 1 MONDO:0003165 "cerebellar astrocytoma" 1 3 0 0 0 1 MONDO:0015191 "myopathic intestinal pseudoobstruction" 0 2 0 0 0 0 MONDO:0003550 "esophageal adenosquamous carcinoma" 1 3 0 0 0 1 -MONDO:0012489 "cataract 23" 1 6 0 0 0 1 +MONDO:0012489 "cataract 23" 1 5 0 0 0 1 MONDO:0005185 "chronic childhood arthritis" 1 6 0 0 0 0 UBERON:0034925 "anatomical collection" 0 0 0 0 0 0 MONDO:0014424 "obsolete congenital deficiency in alpha-fetoprotein" 1 4 0 0 0 0 @@ -19238,12 +19256,11 @@ MONDO:0003749 "esophageal disorder" 1 11 0 0 0 1 MONDO:0015412 "median facial cleft" 0 2 0 0 0 0 UBERON:0005212 "Leydig cell region of testis" 0 0 0 0 0 1 ENVO:01000254 "environmental system" 1 0 0 0 0 0 -MONDO:0014203 "primary ciliary dyskinesia 25" 1 4 0 0 0 1 +MONDO:0014203 "primary ciliary dyskinesia 25" 1 3 0 0 0 1 PATO:0001593 "decreased curvature" 1 0 0 0 0 1 UBERON:0014851 "chorda tendinea of left ventricle" 0 0 0 0 0 1 MONDO:0012576 "supranuclear palsy, progressive, 3" 0 5 0 0 0 0 MONDO:0044279 "obsolete bone mineral density quantitative trait locus 15" 0 1 0 0 0 0 -MONDO:0020055 "autosomal uniparental disomy" 0 3 0 0 0 0 MONDO:0007735 "congenital Horner syndrome" 1 6 0 0 0 0 UBERON:0001943 "midbrain tegmentum" 0 0 0 0 0 0 MONDO:0003819 "childhood teratoma of the ovary" 1 3 0 0 0 1 @@ -19274,7 +19291,7 @@ MONDO:0003527 "obsolete Ferguson-Smith tumor" 1 0 0 0 0 0 MONDO:0022333 "5-nucleotidase syndrome" 0 3 0 0 0 0 GO:0004553 "hydrolase activity, hydrolyzing O-glycosyl compounds" 1 0 0 0 0 0 NCBITaxon:561 "Escherichia" 0 2 0 0 0 0 -MONDO:0002679 "cerebral infarction" 1 13 0 0 0 1 +MONDO:0002679 "cerebral infarction" 1 11 0 0 0 1 MONDO:0004249 "pediatric supratentorial ependymoma" 1 4 0 0 0 1 HP:0009887 "Abnormality of hair pigmentation" 1 1 0 0 0 0 GO:1901360 "organic cyclic compound metabolic process" 1 0 0 0 0 0 @@ -19289,7 +19306,7 @@ MONDO:0021058 "neoplastic syndrome" 1 1 0 0 0 1 MONDO:0008083 "ceroid lipofuscinosis, neuronal, 4 (Kufs type)" 1 9 0 0 0 0 http://identifiers.org/hgnc/21316 "ANKRD11" 0 0 0 0 0 0 MONDO:0013536 "heme oxygenase 1 deficiency" 0 4 0 0 0 0 -MONDO:0015943 "eosinophilic granulomatosis with polyangiitis" 1 11 0 0 0 0 +MONDO:0015943 "eosinophilic granulomatosis with polyangiitis" 1 10 0 0 0 0 MONDO:0100024 "self-limited familial and non-familial infantile seizures" 1 0 0 0 0 0 http://identifiers.org/hgnc/23452 "LIPN" 0 0 0 0 0 0 MONDO:0000563 "GRID2-related autosomal dominant spinocerebellar ataxia" 0 1 0 0 0 0 @@ -19305,7 +19322,7 @@ MONDO:0021929 "traumatic myositis ossificans" 1 4 0 0 0 0 CL:0000079 "stratified epithelial cell" 0 0 0 0 0 0 MONDO:0018511 "epithelial tumor of the appendix" 1 2 0 0 0 1 MONDO:0005912 "phencyclidine abuse" 1 5 0 0 0 1 -MONDO:0017255 "panuveitis" 1 12 0 0 0 0 +MONDO:0017255 "panuveitis" 1 11 0 0 0 0 MONDO:0013083 "neuroblastoma, susceptibility to, 3" 1 1 0 0 0 1 GO:0050996 "positive regulation of lipid catabolic process" 1 0 0 0 0 1 MONDO:0018612 "congenital hypothyroidism" 1 30 0 0 0 1 @@ -19318,7 +19335,7 @@ UBERON:0004792 "secretion of endocrine pancreas" 0 0 0 0 0 1 MONDO:0002941 "anal margin carcinoma" 1 4 0 0 0 1 GO:0045182 "translation regulator activity" 1 0 0 0 0 1 MONDO:0008709 "acrocephalopolydactyly" 1 9 0 0 0 0 -MONDO:0000740 "adenoid hypertrophy" 1 6 0 0 0 0 +MONDO:0000740 "adenoid hypertrophy" 1 5 0 0 0 0 MONDO:0006068 "ACTH-producing pituitary gland adenoma" 1 3 0 0 0 1 MONDO:0006970 "sialolithiasis" 1 9 0 0 0 0 ECTO:9000171 "exposure to acetate" 1 0 0 0 0 1 @@ -19326,7 +19343,7 @@ GO:0015711 "organic anion transport" 1 0 0 0 0 0 GO:0061311 "cell surface receptor signaling pathway involved in heart development" 1 0 0 0 0 1 MONDO:0018121 "mitochondrial DNA maintenance syndrome" 1 2 0 0 0 1 UBERON:0035827 "right adrenal gland cortex" 0 0 0 0 0 1 -MONDO:0002033 "cecum cancer" 1 6 0 0 0 1 +MONDO:0002033 "cecum cancer" 1 5 0 0 0 1 MONDO:0012054 "schizophrenia 12" 1 3 0 0 0 0 MONDO:0018080 "obsolete rare germ cell tumor" 1 2 0 0 0 0 UBERON:0013756 "venous blood" 0 0 0 0 0 1 @@ -19337,7 +19354,7 @@ UBERON:0001144 "testicular vein" 0 0 0 0 0 1 PATO:0001300 "optical quality" 1 0 0 0 0 0 NCBITaxon:10258 "Orf virus" 0 1 0 0 0 0 CHEBI:33429 "monoatomic monoanion" 0 0 0 0 0 0 -MONDO:0017180 "10q22.3q23.3 microduplication syndrome" 0 3 0 0 0 1 +MONDO:0017180 "10q22.3q23.3 microduplication syndrome" 0 2 0 0 0 1 MONDO:0011378 "obsolete CFM1" 0 1 0 0 0 0 MONDO:0009806 "Bruck syndrome 1" 1 4 0 0 0 1 MONDO:0016089 "infantile Krabbe disease" 0 3 0 0 0 1 @@ -19364,7 +19381,7 @@ ECTO:1000019 "exposure to high pressure environment" 1 0 0 0 0 0 MONDO:0015105 "obsolete African tick typhus" 0 0 0 0 0 0 MONDO:0017414 "obsolete rare nevus" 1 1 0 0 0 0 NCBITaxon:314145 "Laurasiatheria" 0 4 0 0 0 0 -MONDO:0000704 "lymphocytic colitis" 1 12 0 0 0 0 +MONDO:0000704 "lymphocytic colitis" 1 11 0 0 0 0 MONDO:0011634 "rippling muscle disease" 1 4 0 0 0 0 MONDO:0006691 "obsolete causalgia" 0 0 0 0 0 0 UBERON:0005472 "right vitelline vein" 0 0 0 0 0 1 @@ -19402,7 +19419,7 @@ UBERON:0003851 "diencephalon neural crest" 0 0 0 0 0 1 MONDO:0037821 "porphyrin metabolism disease" 1 1 0 0 0 1 UBERON:0001632 "temporal artery" 0 0 0 0 0 0 MONDO:0023682 "tympanic paraganglioma" 1 6 0 0 0 1 -MONDO:0002507 "gingival overgrowth" 1 5 0 0 0 0 +MONDO:0002507 "gingival overgrowth" 1 4 0 0 0 0 MONDO:0007718 "hepatic adenomas, familial" 0 4 0 0 0 0 GO:0090276 "regulation of peptide hormone secretion" 1 0 0 0 0 1 ECTO:0001108 "exposure to aflatoxin" 1 0 0 0 0 1 @@ -19417,7 +19434,7 @@ MONDO:0004428 "alveoli adenoma" 1 4 0 0 0 0 http://identifiers.org/hgnc/16940 "DGAT2" 0 0 0 0 0 0 MONDO:0012385 "metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands" 0 4 0 0 0 0 NCBITaxon:5761 "Naegleria" 0 1 0 0 0 0 -MONDO:0024619 "central nervous system infectious disorder" 1 6 0 0 0 1 +MONDO:0024619 "central nervous system infectious disorder" 1 7 0 0 0 1 MONDO:0033009 "Galloway-Mowat syndrome 5" 0 4 0 0 0 0 GO:0002181 "cytoplasmic translation" 1 0 0 0 0 0 UBERON:0011222 "intra-ocular muscle" 0 0 0 0 0 0 @@ -19434,7 +19451,7 @@ UBERON:0002111 "artery smooth muscle tissue" 0 0 0 0 0 1 MONDO:0016514 "epidermolysis bullosa simplex with anodontia/hypodontia" 0 2 0 0 0 0 MONDO:0005384 "partial epilepsy" 1 7 0 0 0 0 GO:0044428 "obsolete nuclear part" 1 0 0 0 0 0 -MONDO:0006238 "growth hormone-producing pituitary gland adenoma" 1 10 0 0 0 1 +MONDO:0006238 "growth hormone-producing pituitary gland adenoma" 1 8 0 0 0 1 MONDO:0021311 "malignant tumor of parathyroid gland" 1 4 0 0 0 1 MONDO:0008403 "scalp defects-postaxial polydactyly syndrome" 1 6 0 0 0 0 NCBITaxon:88770 "Panarthropoda" 0 1 0 0 0 0 @@ -19443,12 +19460,12 @@ MONDO:0013542 "Moyamoya disease 5" 1 3 0 0 0 1 MONDO:0010654 "Partington syndrome" 1 4 0 0 0 0 MONDO:0012240 "nemaline myopathy 4" 1 6 0 0 0 1 MONDO:0013310 "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency" 1 6 0 0 0 0 -MONDO:0001481 "femoral vein thrombophlebitis" 1 5 0 0 0 1 +MONDO:0001481 "femoral vein thrombophlebitis" 1 4 0 0 0 1 MONDO:0003516 "adult teratoma" 1 4 0 0 0 1 MONDO:0002570 "high pressure neurological syndrome" 1 3 0 0 0 0 MONDO:0020338 "adult pure red cell aplasia" 1 6 0 0 0 1 http://identifiers.org/hgnc/10721 "SELP" 0 0 0 0 0 0 -MONDO:0001788 "nutmeg liver" 0 5 0 0 0 0 +MONDO:0001788 "nutmeg liver" 0 4 0 0 0 0 NCBITaxon:28211 "Alphaproteobacteria" 0 6 0 0 0 0 MONDO:0010908 "loose anagen syndrome" 1 9 0 0 0 0 MONDO:0007402 "creatine phosphokinase, elevated serum" 0 1 0 0 0 0 @@ -19456,11 +19473,11 @@ MONDO:0011580 "cerebellar ataxia and hypergonadotropic hypogonadism" 0 4 0 0 0 0 MONDO:0014562 "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome" 0 4 0 0 0 0 http://identifiers.org/hgnc/29659 "MESP2" 0 0 0 0 0 0 http://identifiers.org/hgnc/29944 "TENM3" 0 0 0 0 0 0 -MONDO:0007011 "uveoparotid fever" 1 7 0 0 0 0 +MONDO:0007011 "uveoparotid fever" 1 6 0 0 0 0 FOODON:03412702 "kid (goat)"@en 1 0 0 0 0 0 GO:1901292 "nucleoside phosphate catabolic process" 1 0 0 0 0 0 MONDO:0019291 "obsolete rare genetic dermis disorder" 0 2 0 0 0 0 -MONDO:0011259 "retinitis pigmentosa 22" 1 6 0 0 0 0 +MONDO:0011259 "retinitis pigmentosa 22" 1 5 0 0 0 0 CHEBI:50816 "iron oxide" 0 0 0 0 0 0 MONDO:0024463 "ovarian dysgenesis 1" 0 4 0 0 0 0 MONDO:0020675 "ischemic bowel disorder" 1 1 0 0 0 1 @@ -19478,10 +19495,10 @@ MONDO:0017181 "hypnic headache" 1 7 0 0 0 0 HP:0200067 "Recurrent spontaneous abortion" 1 1 0 0 0 0 UBERON:0003823 "hindlimb zeugopod" 0 0 0 0 0 1 MONDO:0011698 "glycine N-methyltransferase deficiency" 1 7 0 0 0 0 -MONDO:0005717 "contagious pustular dermatitis" 1 7 0 0 0 0 +MONDO:0005717 "contagious pustular dermatitis" 1 6 0 0 0 0 MONDO:0003285 "fallopian tube leiomyoma" 1 3 0 0 0 1 GO:0035176 "social behavior" 1 0 0 0 0 0 -MONDO:0018477 "bilirubin encephalopathy" 0 10 0 0 0 0 +MONDO:0018477 "bilirubin encephalopathy" 0 9 0 0 0 0 MONDO:0010842 "multiple cutaneous and mucosal venous malformations" 1 6 0 0 0 0 GO:0051340 "regulation of ligase activity" 1 0 0 0 0 1 NCBITaxon:10405 "Orthohepadnavirus" 0 1 0 0 0 0 @@ -19510,11 +19527,11 @@ MONDO:0009271 "geroderma osteodysplastica" 1 9 0 0 0 0 UBERON:0012486 "muscle layer of cloaca" 0 0 0 0 0 1 MONDO:0022791 "coarse face hypotonia constipation" 0 1 0 0 0 0 http://identifiers.org/hgnc/18986 "GBA2" 0 0 0 0 0 0 -MONDO:0013067 "cataract 34 multiple types" 1 7 0 0 0 1 -MONDO:0012463 "retinitis pigmentosa 35" 1 7 0 0 0 1 +MONDO:0013067 "cataract 34 multiple types" 1 6 0 0 0 1 +MONDO:0012463 "retinitis pigmentosa 35" 1 6 0 0 0 1 MONDO:0009058 "cystathioninuria" 1 12 0 0 0 0 MONDO:0015922 "obsolete channelopathy with epilepsy" 0 1 0 0 0 0 -MONDO:0014202 "primary ciliary dyskinesia 24" 1 4 0 0 0 1 +MONDO:0014202 "primary ciliary dyskinesia 24" 1 3 0 0 0 1 MONDO:0015870 "obsolete rare malignant breast tumor" 1 2 0 0 0 0 http://identifiers.org/hgnc/2959 "DNASE1L3" 0 0 0 0 0 0 MONDO:0032857 "diarrhea 11, malabsorptive, congenital" 0 1 0 0 0 0 @@ -19537,7 +19554,7 @@ NBO:0001786 "regulation of behavior"@en 1 0 0 0 0 1 HP:0002823 "Abnormality of femur morphology" 1 1 0 0 0 0 GO:0030522 "intracellular receptor signaling pathway" 1 0 0 0 0 0 GO:1990351 "transporter complex" 1 0 0 0 0 0 -MONDO:0021651 "synpolydactyly" 1 4 0 0 0 1 +MONDO:0021651 "synpolydactyly" 1 12 0 0 0 1 MONDO:0014981 "immunodeficiency 49" 1 2 0 0 0 1 MONDO:0014769 "inherited oocyte maturation defect" 0 4 0 0 0 0 HP:0001096 "Keratoconjunctivitis" 1 3 0 0 0 0 @@ -19548,7 +19565,7 @@ NCBITaxon:34607 "Amblyomma cajennense" 0 1 0 0 0 0 UBERON:0004886 "lung hilus" 0 0 0 0 0 1 MONDO:0000804 "obsolete white shrimp allergy" 1 1 0 0 0 0 PATO:0001694 "decreased viscosity" 1 0 0 0 0 1 -MONDO:0015144 "brain inflammatory disease" 1 2 0 0 0 1 +MONDO:0015144 "brain inflammatory disease" 1 3 0 0 0 1 ECTO:9000016 "exposure to hydrogen chloride" 1 0 0 0 0 1 MONDO:0017069 "spina bifida cystica" 1 14 0 0 0 0 GO:0005980 "glycogen catabolic process" 1 0 0 0 0 0 @@ -19582,7 +19599,7 @@ UBERON:0019315 "meibum" 0 0 0 0 0 1 MONDO:0600008 "cytokine release syndrome" 1 1 0 0 0 0 MONDO:0009490 "Papillon-Lefevre disease" 1 10 0 0 0 0 GO:0006897 "endocytosis" 1 0 0 0 0 0 -MONDO:0016370 "Marchiafava-Bignami disease" 1 10 0 0 0 0 +MONDO:0016370 "Marchiafava-Bignami disease" 1 9 0 0 0 0 MONDO:0000830 "obsolete Waldenstroem's macroglobulinemia" 0 0 0 0 0 0 GO:0045444 "fat cell differentiation" 1 0 0 0 0 0 MONDO:0024525 "Fanconi renotubular syndrome 1" 0 2 0 0 0 1 @@ -19611,7 +19628,7 @@ MONDO:0017619 "congenital sucrase-isomaltase deficiency with minimal starch tole MONDO:0017818 "lethal arteriopathy syndrome due to fibulin-4 deficiency" 0 2 0 0 0 0 GO:0120188 "regulation of bile acid secretion" 1 0 0 0 0 1 UBERON:0015790 "autopod skin" 0 0 0 0 0 1 -MONDO:0016786 "partial hydatidiform mole" 1 7 0 0 0 0 +MONDO:0016786 "partial hydatidiform mole" 1 6 0 0 0 0 http://identifiers.org/hgnc/17104 "CDON" 0 0 0 0 0 0 MONDO:0012783 "RFT1-CDG" 1 8 0 0 0 0 UBERON:0003599 "tail connective tissue" 0 0 0 0 0 1 @@ -19623,7 +19640,7 @@ MONDO:0017910 "dehydrated hereditary stomatocytosis" 1 7 0 0 0 0 MONDO:0017664 "obsolete rare genetic myoclonus" 0 0 0 0 0 0 UBERON:0014402 "sex-specific anatomical structure" 0 0 0 0 0 1 MONDO:0000892 "colon medullary carcinoma" 1 4 0 0 0 1 -MONDO:0008867 "biliary atresia" 1 11 0 0 0 0 +MONDO:0008867 "biliary atresia" 1 10 0 0 0 0 MONDO:0021034 "genetic alopecia" 1 1 0 0 0 1 MONDO:0017797 "obsolete rare odontologic tumor" 1 2 0 0 0 0 MONDO:0019351 "isolated spina bifida" 1 17 0 0 0 1 @@ -19639,37 +19656,37 @@ UBERON:0003390 "mesothelium of pleural cavity" 0 0 0 0 0 1 HP:0002250 "Abnormal large intestine morphology" 1 1 0 0 0 0 GO:0060485 "mesenchyme development" 1 0 0 0 0 0 UBERON:0000161 "orifice" 0 0 0 0 0 0 -MONDO:0002136 "eczematous dermatitis of eyelid" 0 5 0 0 0 0 +MONDO:0002136 "eczematous dermatitis of eyelid" 0 4 0 0 0 0 MONDO:0005434 "skin sensitivity to sun" 1 1 0 0 0 0 UBERON:0008814 "pharyngeal arch system" 0 0 0 0 0 0 MONDO:0032575 "diarrhea 9" 0 1 0 0 0 0 MONDO:0030953 "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" 0 1 0 0 0 0 ECTO:4000035 "exposure to increased water pressure" 1 0 0 0 0 0 -MONDO:0001162 "impulse control disorder" 1 6 0 0 0 0 +MONDO:0001162 "impulse control disorder" 1 5 0 0 0 0 MONDO:0001794 "Pthirus pubis infestation" 1 6 0 0 0 1 -MONDO:0007064 "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency" 1 12 0 0 0 0 +MONDO:0007064 "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency" 1 11 0 0 0 0 HP:0030347 "Abnormal circulating androgen level" 1 1 0 0 0 0 MONDO:0005255 "mild heart failure" 1 2 0 0 0 0 http://identifiers.org/hgnc/15625 "NBAS" 0 0 0 0 0 0 MONDO:0003896 "breast capillary hemangioma" 1 3 0 0 0 1 MONDO:0016781 "maternal 14q32.2 microdeletion syndrome" 0 3 0 0 0 0 GO:0035773 "insulin secretion involved in cellular response to glucose stimulus" 1 0 0 0 0 1 -MONDO:0001694 "diffuse interstitial keratitis" 0 5 0 0 0 0 +MONDO:0001694 "diffuse interstitial keratitis" 0 4 0 0 0 0 MONDO:0003890 "infiltrating bladder urothelial carcinoma" 1 3 0 0 0 1 MONDO:0010646 "macular dystrophy, X-linked" 0 3 0 0 0 0 CL:0000354 "blastemal cell" 0 1 0 0 0 0 MONDO:0015865 "obsolete benign tumor of fallopian tubes" 0 0 0 0 0 0 MONDO:0008593 "trichomegaly" 0 2 0 0 0 0 -MONDO:0001716 "corneal argyrosis" 0 5 0 0 0 0 +MONDO:0001716 "corneal argyrosis" 0 4 0 0 0 0 MONDO:0000176 "obsolete megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome" 0 0 0 0 0 0 -MONDO:0004335 "digestive system disorder" 1 8 0 0 0 1 +MONDO:0004335 "digestive system disorder" 1 10 0 0 0 1 UBERON:0005111 "metanephric pyramid" 0 0 0 0 0 1 MONDO:0009603 "3-hydroxyisobutyryl-CoA hydrolase deficiency" 1 6 0 0 0 0 NCBITaxon:519 "Bordetella parapertussis" 0 3 0 0 0 0 MONDO:0012819 "diabetic ketoacidosis" 1 10 0 0 0 0 PATO:0001394 "diploid" 1 0 0 0 0 0 MONDO:0023692 "maple syrup urine disease type 1B" 1 2 0 0 0 0 -MONDO:0006726 "diaphragmatic eventration" 1 7 0 0 0 0 +MONDO:0006726 "diaphragmatic eventration" 1 6 0 0 0 0 MONDO:0010968 "glaucoma 3, primary infantile, B" 0 6 0 0 0 0 MONDO:0002750 "bladder colloid adenocarcinoma" 0 3 0 0 0 0 http://identifiers.org/hgnc/2188 "COL12A1" 0 0 0 0 0 0 @@ -19688,15 +19705,15 @@ HP:0002013 "Vomiting" 1 6 0 0 0 0 MONDO:0023062 "encephalocele anencephaly" 0 1 0 0 0 0 HP:0000274 "Small face" 1 1 0 0 0 0 MONDO:0012786 "juvenile cataract-microcornea-renal glucosuria syndrome" 1 6 0 0 0 0 -MONDO:0004382 "laryngeal disorder" 1 8 0 0 0 1 +MONDO:0004382 "laryngeal disorder" 1 7 0 0 0 1 GO:1903524 "positive regulation of blood circulation" 1 0 0 0 0 1 -MONDO:0002769 "leukorrhea" 1 4 0 0 0 0 +MONDO:0002769 "leukorrhea" 1 3 0 0 0 0 http://identifiers.org/hgnc/15844 "HPS4" 0 0 0 0 0 0 MONDO:0030860 "neuronopathy, distal hereditary motor, type 5C" 1 1 0 0 0 1 MONDO:0014024 "hereditary spastic paraplegia 43" 1 6 0 0 0 1 MONDO:0003341 "subungual glomus tumor" 1 5 0 0 0 1 http://identifiers.org/hgnc/5992 "IL1B" 0 0 0 0 0 0 -MONDO:0011810 "horizontal gaze palsy with progressive scoliosis" 1 8 0 0 0 0 +MONDO:0011810 "horizontal gaze palsy with progressive scoliosis" 1 9 0 0 0 0 MONDO:0010513 "obsolete intellectual disability, X-linked, syndromic, Borck type" 0 0 0 0 0 0 HP:0032101 "Unusual infection" 1 0 0 0 0 0 MONDO:0003907 "ovarian yolk sac tumor, polyvesicular vitelline pattern" 1 3 0 0 0 0 @@ -19706,7 +19723,7 @@ http://identifiers.org/hgnc/10908 "SLC11A2" 0 0 0 0 0 0 http://identifiers.org/hgnc/10907 "SLC11A1" 0 0 0 0 0 0 UBERON:0004302 "proximal phalanx" 0 0 0 0 0 1 MONDO:0006056 "squamous cell breast carcinoma" 1 5 0 0 0 1 -MONDO:0006586 "neurotic excoriation" 1 8 0 0 0 0 +MONDO:0006586 "neurotic excoriation" 1 7 0 0 0 0 http://identifiers.org/hgnc/10718 "SELE" 0 0 0 0 0 0 MONDO:0017086 "primary tethered cord syndrome" 1 4 0 0 0 0 MONDO:0010442 "46,XX sex reversal 3" 0 4 0 0 0 0 @@ -19720,7 +19737,7 @@ MONDO:0011291 "congenital disorder of glycosylation type 1C" 1 9 0 0 0 1 MONDO:0007084 "familial focal alopecia" 0 3 0 0 0 0 http://identifiers.org/hgnc/7045 "MGAT2" 0 0 0 0 0 0 MONDO:0009906 "prenatal bowing" 0 3 0 0 0 0 -MONDO:0011350 "autosomal dominant nonsyndromic hearing loss 17" 1 4 0 0 0 1 +MONDO:0011350 "autosomal dominant nonsyndromic hearing loss 17" 1 3 0 0 0 1 MONDO:0018505 "obsolete rare tumor of small intestine" 1 2 0 0 0 0 http://identifiers.org/hgnc/30664 "CLPB" 0 0 0 0 0 0 MONDO:0010897 "schizophrenia 3" 1 3 0 0 0 0 @@ -19761,7 +19778,7 @@ HP:0001004 "Lymphedema" 1 6 0 0 0 0 CHEBI:51446 "organic divalent group" 0 0 0 0 0 0 CL:2000030 "hypothalamus cell" 1 0 0 0 0 1 MONDO:0032854 "zimmermann-laband syndrome 3" 0 1 0 0 0 0 -MONDO:0014738 "autosomal dominant nonsyndromic hearing loss 69" 1 4 0 0 0 1 +MONDO:0014738 "autosomal dominant nonsyndromic hearing loss 69" 1 3 0 0 0 1 http://identifiers.org/hgnc/18550 "IER3IP1" 0 0 0 0 0 0 UBERON:0003928 "digestive system duct" 0 0 0 0 0 1 MONDO:0014295 "hereditary spastic paraplegia 57" 1 8 0 0 0 1 @@ -19773,7 +19790,7 @@ MONDO:0016026 "infant epilepsy with migrant focal crisis" 1 5 0 0 0 0 GO:0046496 "nicotinamide nucleotide metabolic process" 1 0 0 0 0 0 NCBITaxon:43816 "Anophelinae" 0 1 0 0 0 0 http://identifiers.org/hgnc/12723 "VSX1" 0 0 0 0 0 0 -MONDO:0008871 "microcephalic osteodysplastic primordial dwarfism type I" 1 5 0 0 0 1 +MONDO:0008871 "microcephalic osteodysplastic primordial dwarfism type I" 1 4 0 0 0 1 MONDO:0002143 "vaginal yolk sac tumor" 1 4 0 0 0 1 MONDO:0014259 "neuronopathy, distal hereditary motor, type 2D" 1 3 0 0 0 1 http://identifiers.org/hgnc/1762 "CDH3" 0 0 0 0 0 0 @@ -19822,7 +19839,7 @@ MONDO:0001254 "obsolete peripheral scars of retina" 0 2 0 0 0 0 MONDO:0012703 "lissencephaly due to TUBA1A mutation" 1 6 0 0 0 0 MONDO:0016403 "obsolete mitochondrial disease with peripheral neuropathy" 0 2 0 0 0 0 MONDO:0009503 "pyruvate dehydrogenase E3-binding protein deficiency" 1 5 0 0 0 0 -MONDO:0019150 "familial isolated restrictive cardiomyopathy" 1 8 0 0 0 0 +MONDO:0019150 "familial isolated restrictive cardiomyopathy" 1 7 0 0 0 0 UBERON:0000072 "proximo-distal subdivision of respiratory tract" 0 0 0 0 0 1 http://identifiers.org/hgnc/12399 "MYOT" 0 0 0 0 0 0 NCBITaxon:2732422 "Quintoviricetes" 0 1 0 0 0 0 @@ -19832,16 +19849,16 @@ GO:0022853 "active ion transmembrane transporter activity" 1 0 0 0 0 0 MONDO:0006457 "obsolete thymoma type AB" 0 0 0 0 0 0 MONDO:0015427 "paroxysmal dyskinesia" 1 4 0 0 0 0 NCBITaxon:7148 "Nematocera" 0 1 0 0 0 0 -MONDO:0013610 "retinitis pigmentosa 61" 1 4 0 0 0 0 -MONDO:0013611 "retinitis pigmentosa 62" 1 4 0 0 0 1 -MONDO:0017786 "2q23.1 microduplication syndrome" 1 4 0 0 0 1 +MONDO:0013610 "retinitis pigmentosa 61" 1 3 0 0 0 0 +MONDO:0013611 "retinitis pigmentosa 62" 1 3 0 0 0 1 +MONDO:0017786 "2q23.1 microduplication syndrome" 1 3 0 0 0 1 MONDO:0005156 "encephalomyelitis" 1 7 0 0 0 1 -MONDO:0001751 "cholestasis" 1 7 0 0 0 0 +MONDO:0001751 "cholestasis" 1 6 0 0 0 0 MONDO:0008986 "circumvallate placenta syndrome" 0 3 0 0 0 0 MONDO:0008364 "Raynaud disease" 1 9 0 0 0 0 CHEBI:76773 "EC 3.1.1.* (carboxylic ester hydrolase) inhibitor" 1 0 0 0 0 0 MONDO:0019508 "van der Woude syndrome" 1 12 0 0 0 0 -MONDO:0013935 "Usher syndrome type 1J" 1 6 0 0 0 1 +MONDO:0013935 "Usher syndrome type 1J" 1 5 0 0 0 1 MONDO:0030941 "erythrokeratodermia variabilis et progressiva 7" 0 1 0 0 0 0 MONDO:0016611 "lipoblastoma" 1 6 0 0 0 0 MONDO:0020461 "epiblepharon" 0 4 0 0 0 0 @@ -19861,13 +19878,13 @@ UBERON:0002298 "brainstem" 0 0 0 0 0 0 http://identifiers.org/hgnc/9024 "PKP2" 0 0 0 0 0 0 GO:0016248 "channel inhibitor activity" 1 0 0 0 0 1 MONDO:0004998 "obsolete chondromyxoid fibroma" 0 0 0 0 0 0 -MONDO:0012684 "arrhythmogenic right ventricular dysplasia 12" 1 6 0 0 0 1 +MONDO:0012684 "arrhythmogenic right ventricular dysplasia 12" 1 5 0 0 0 1 MONDO:0008316 "thrombophilia due to protein C deficiency, autosomal dominant" 0 2 0 0 0 0 http://identifiers.org/hgnc/6485 "LAMA5" 0 0 0 0 0 0 MONDO:0008904 "camptomelic syndrome, long-limb type" 0 5 0 0 0 0 MONDO:0004477 "adrenal gland ganglioneuroblastoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/6483 "LAMA3" 0 0 0 0 0 0 -MONDO:0006295 "malignant urinary system neoplasm" 1 7 0 0 0 1 +MONDO:0006295 "malignant urinary system neoplasm" 1 6 0 0 0 1 http://identifiers.org/hgnc/6482 "LAMA2" 0 0 0 0 0 0 http://identifiers.org/hgnc/6484 "LAMA4" 0 0 0 0 0 0 UBERON:0010161 "lumen of blood vessel" 0 0 0 0 0 1 @@ -19888,7 +19905,7 @@ MONDO:0001287 "endometriosis in cutaneous scar" 0 5 0 0 0 0 MONDO:0013222 "Miyoshi muscular dystrophy 3" 0 6 0 0 0 0 MONDO:0700126 "trisomy 21" 1 0 0 0 0 1 GO:0051099 "positive regulation of binding" 1 0 0 0 0 1 -MONDO:0003718 "occlusion precerebral artery" 0 9 0 0 0 0 +MONDO:0003718 "occlusion precerebral artery" 0 8 0 0 0 0 MONDO:0004927 "dacryocystocele" 1 3 0 0 0 0 MONDO:0013699 "colorectal cancer, hereditary nonpolyposis, type 4" 1 5 0 0 0 1 MONDO:0002648 "mammary Paget disease" 1 4 0 0 0 1 @@ -19902,7 +19919,7 @@ ENVO:01001747 "mass fluid flow"@en 0 0 0 0 0 0 CHEBI:76857 "EC 1.3.1.* (oxidoreductase acting on donor CH-CH group, NAD(+) or NADP(+) as acceptor) inhibitor" 1 0 0 0 0 0 MONDO:0021736 "proctosigmoiditis" 1 4 0 0 0 1 MONDO:0008707 "acro-renal-mandibular syndrome" 1 7 0 0 0 0 -MONDO:0013929 "autosomal recessive nonsyndromic hearing loss 98" 1 4 0 0 0 1 +MONDO:0013929 "autosomal recessive nonsyndromic hearing loss 98" 1 3 0 0 0 1 MONDO:0008815 "argininosuccinic aciduria" 1 10 0 0 0 0 MONDO:0025484 "simian acquired immunodeficiency syndrome" 1 2 0 0 0 1 MONDO:0002527 "keratoacanthoma" 1 6 0 0 0 0 @@ -19919,7 +19936,7 @@ MONDO:0008098 "mesomelic dwarfism, Nievergelt type" 0 7 0 0 0 0 GO:2000258 "negative regulation of protein activation cascade" 1 0 0 0 0 1 MONDO:0017962 "46,XX disorder of sex development induced by fetoplacental androgens excess" 0 2 0 0 0 0 ENVO:01001090 "formation of a solid aerosol from gaseous material in an atmosphere"@en 1 0 0 0 0 1 -MONDO:0001099 "lactocele" 1 7 0 0 0 0 +MONDO:0001099 "lactocele" 1 6 0 0 0 0 UBERON:0006924 "stomach glandular epithelium" 0 0 0 0 0 1 CHR:9606-chr21q22.11-q22.12 "21q22.11-q22.12 (Human)" 0 0 0 0 0 0 MONDO:0100348 "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities" 1 1 0 0 0 0 @@ -19927,28 +19944,28 @@ MONDO:0012631 "Alzheimer disease 14" 1 5 0 0 0 0 MONDO:0017380 "juvenile polyposis syndrome" 1 9 0 0 0 0 GO:0071826 "ribonucleoprotein complex subunit organization" 1 0 0 0 0 0 UBERON:0005384 "nasal cavity epithelium" 0 0 0 0 0 1 -MONDO:0001858 "Tietze syndrome" 1 8 0 0 0 1 +MONDO:0001858 "Tietze syndrome" 1 7 0 0 0 1 MONDO:0002782 "cranial nerve palsy" 1 5 0 0 0 0 MONDO:0010019 "secretory component deficiency" 0 5 0 0 0 0 http://identifiers.org/hgnc/16446 "CARD14" 0 0 0 0 0 0 http://identifiers.org/hgnc/18746 "SLURP1" 0 0 0 0 0 0 MONDO:0018991 "hepatoportal sclerosis" 1 4 0 0 0 0 GO:1904222 "positive regulation of serine C-palmitoyltransferase activity" 1 0 0 0 0 1 -MONDO:0002052 "lymphadenitis" 1 14 0 0 0 1 +MONDO:0002052 "lymphadenitis" 1 10 0 0 0 1 CL:1001602 "cerebral cortex endothelial cell" 1 1 0 0 0 1 PO:0009062 "gynoecium" 1 3 0 0 0 0 -MONDO:0001409 "esophagitis" 1 12 0 0 0 1 +MONDO:0001409 "esophagitis" 1 10 0 0 0 1 MONDO:0015384 "digestive duplication cyst of the tongue" 1 2 0 0 0 1 MONDO:0019905 "ring chromosome 9" 1 6 0 0 0 1 MONDO:0002059 "obsolete breast duct papilloma" 0 0 0 0 0 0 GO:0071738 "IgD immunoglobulin complex" 1 0 0 0 0 0 -MONDO:0003265 "adjustment disorder" 1 7 0 0 0 0 +MONDO:0003265 "adjustment disorder" 1 8 0 0 0 0 http://identifiers.org/hgnc/1943 "CHN1" 0 0 0 0 0 0 CHR:9606-chr11q24 "11q24 (Human)" 0 0 0 0 0 0 MONDO:0005610 "Kashin-Beck disease" 1 7 0 0 0 0 MONDO:0018853 "transgrediens et progrediens palmoplantar keratoderma" 0 4 0 0 0 0 MONDO:0019096 "obsolete rare pulmonary hypertension" 1 2 0 0 0 0 -MONDO:0011271 "rigid spine muscular dystrophy 1" 1 12 0 0 0 1 +MONDO:0011271 "rigid spine muscular dystrophy 1" 1 10 0 0 0 1 MONDO:0010725 "X-linked retinoschisis" 1 7 0 0 0 1 MONDO:0012239 "nemaline myopathy 1" 1 6 0 0 0 1 MONDO:0013520 "dyskeratosis congenita, autosomal recessive 3" 1 4 0 0 0 1 @@ -19981,7 +19998,7 @@ MONDO:0006693 "cerebral arterial disease" 1 4 0 0 0 0 GO:0042701 "progesterone secretion" 1 0 0 0 0 0 GO:0055026 "negative regulation of cardiac muscle tissue development" 1 0 0 0 0 1 MONDO:0008302 "centra precocious puberty 1" 1 4 0 0 0 1 -MONDO:0024306 "acquired lactic acidosis" 1 4 0 0 0 1 +MONDO:0024306 "acquired lactic acidosis" 1 2 0 0 0 1 MONDO:0008993 "cleft palate-stapes fixation-oligodontia syndrome" 1 6 0 0 0 0 ECTO:9000156 "exposure to water" 1 0 0 0 0 1 FOODON:03411301 "algae"@en 1 0 0 0 0 0 @@ -19989,7 +20006,7 @@ http://identifiers.org/hgnc/25786 "REEP1" 0 0 0 0 0 0 MONDO:0013918 "distal tetrasomy 15q" 0 6 0 0 0 0 PATO:0001789 "domed" 1 0 0 0 0 0 GO:1903781 "positive regulation of cardiac conduction" 1 0 0 0 0 1 -MONDO:0006783 "hemopneumothorax" 1 8 0 0 0 0 +MONDO:0006783 "hemopneumothorax" 1 7 0 0 0 0 GO:0001659 "temperature homeostasis" 1 0 0 0 0 0 MONDO:0018354 "Prader-Willi-like syndrome" 1 3 0 0 0 0 PO:0020144 "apical meristem" 1 1 0 0 0 0 @@ -20000,7 +20017,7 @@ UBERON:0005744 "bone foramen" 0 0 0 0 0 1 MONDO:0012630 "Alzheimer disease 13" 1 6 0 0 0 0 MONDO:0009001 "macular coloboma-cleft palate-hallux valgus syndrome" 1 6 0 0 0 0 MONDO:0000104 "anemia, hypochromic microcytic with iron overload" 0 3 0 0 0 0 -MONDO:0015517 "common variable immunodeficiency" 1 28 0 0 0 0 +MONDO:0015517 "common variable immunodeficiency" 1 27 0 0 0 0 MONDO:0044239 "obsolete median-ulnar nerve communications" 0 1 0 0 0 0 MONDO:0000963 "esophageal lipoma" 1 3 0 0 0 1 MONDO:0018158 "mitochondrial DNA depletion syndrome" 1 6 0 0 0 0 @@ -20050,7 +20067,7 @@ CL:0000806 "DN2 thymocyte" 1 0 0 0 0 0 CHEBI:52214 "ligand" 1 0 0 0 0 0 MONDO:0008436 "Sneddon syndrome" 1 10 0 0 0 0 MONDO:0012237 "nemaline myopathy 6" 1 5 0 0 0 1 -MONDO:0008637 "bifid uvula" 1 4 0 0 0 0 +MONDO:0008637 "bifid uvula" 1 3 0 0 0 0 GO:0090257 "regulation of muscle system process" 1 0 0 0 0 1 MONDO:0005182 "serous cystadenofibroma" 1 2 0 0 0 0 CHEBI:65255 "food preservative" 1 0 0 0 0 0 @@ -20095,25 +20112,26 @@ MONDO:0014360 "developmental and epileptic encephalopathy, 21" 1 3 0 0 0 1 MONDO:0025511 "inherited neuroendocrine tumor" 1 2 0 0 0 1 HP:0000707 "Abnormality of the nervous system" 1 3 0 0 0 0 MONDO:0032920 "juvenile arthritis due to defect in LACC1" 0 1 0 0 0 0 -MONDO:0006938 "pyelitis" 1 8 0 0 0 1 +MONDO:0006938 "pyelitis" 1 7 0 0 0 1 UBERON:0005226 "pedal digit epithelium" 0 0 0 0 0 1 MONDO:0003144 "medulloepithelioma" 1 6 0 0 0 0 MONDO:0017123 "arthrogryposis-renal dysfunction-cholestasis syndrome" 1 9 0 0 0 0 MONDO:0003818 "childhood mature teratoma of the ovary" 1 3 0 0 0 1 -MONDO:0011015 "cataract 24" 1 7 0 0 0 0 +MONDO:0011015 "cataract 24" 1 6 0 0 0 0 MONDO:0012390 "arthrogryposis multiplex with deafness, inguinal hernias, and early death" 0 4 0 0 0 0 MONDO:0014018 "hereditary spastic paraplegia 54" 1 7 0 0 0 1 MONDO:0003143 "angiokeratoma" 1 7 0 0 0 0 MONDO:0016934 "partial duplication of chromosome 16" 0 2 0 0 0 1 MONDO:0006510 "renal tubular transport disease" 1 4 0 0 0 1 MONDO:0015178 "congenital intestinal transport defect" 0 1 0 0 0 0 +MONDO:0009250 "obsolete fructose utilization" 0 1 0 0 0 0 PATO:0002303 "decreased object quality" 1 0 0 0 0 1 MONDO:0010871 "succinic acidemia" 0 4 0 0 0 0 http://identifiers.org/hgnc/1699 "CD79B" 0 0 0 0 0 0 CHR:9606-chr16p12.1 "16p12.1 (Human)" 0 0 0 0 0 0 UBERON:0003409 "gland of tongue" 0 0 0 0 0 1 MONDO:0001005 "kaolin pneumoconiosis" 1 6 0 0 0 1 -MONDO:0011959 "sweet syndrome" 1 10 0 0 0 0 +MONDO:0011959 "sweet syndrome" 1 9 0 0 0 0 MONDO:0007231 "brachytelephalangy-dysmorphism-Kallmann syndrome" 1 5 0 0 0 0 MONDO:0006420 "small intestinal mucosa-associated lymphoid tissue lymphoma" 1 3 0 0 0 1 UBERON:0001846 "internal ear" 0 0 0 0 0 0 @@ -20133,7 +20151,7 @@ MONDO:0023558 "Kocher-debre-Semelaigne syndrome" 0 2 0 0 0 0 CL:0002550 "fibroblast of the conjunctiva" 1 0 0 0 0 1 ECTO:0010001 "exposure to qualitative environmental quality" 1 0 0 0 0 1 HP:0000613 "Photophobia" 1 5 0 0 0 0 -MONDO:0005757 "eumycotic mycetoma" 1 6 0 0 0 0 +MONDO:0005757 "eumycotic mycetoma" 1 4 0 0 0 0 MONDO:0011513 "Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology" 0 4 0 0 0 0 ENVO:00002000 "slope" 1 0 0 0 0 0 CHR:9606-chr1p32-p31 "1p32-p31 (Human)" 0 0 0 0 0 0 @@ -20146,21 +20164,21 @@ http://identifiers.org/hgnc/30668 "SRPX2" 0 0 0 0 0 0 MONDO:0018247 "CADDS" 0 5 0 0 0 0 MONDO:0016935 "partial duplication of chromosome 17" 0 3 0 0 0 1 MONDO:0015259 "brachydactyly-mesomelia-intellectual disability-heart defects syndrome" 1 4 0 0 0 0 -MONDO:0002068 "female breast lower-inner quadrant cancer" 0 6 0 0 0 0 +MONDO:0002068 "female breast lower-inner quadrant cancer" 0 5 0 0 0 0 MONDO:0021128 "has an isolated presentation" 1 0 0 0 0 0 MONDO:0002110 "adrenal rest tumor" 1 6 0 0 0 0 MONDO:0001540 "bagassosis" 1 6 0 0 0 1 PATO:0002062 "physical quality of a process" 0 0 0 0 0 0 GO:0022412 "cellular process involved in reproduction in multicellular organism" 1 0 0 0 0 1 UBERON:0005724 "roof plate spinal cord region" 0 0 0 0 0 1 -MONDO:0011016 "type 1 diabetes mellitus 11" 1 5 0 0 0 0 +MONDO:0011016 "type 1 diabetes mellitus 11" 1 4 0 0 0 0 MONDO:0019061 "obsolete rare parathyroid disease and phosphocalcic metabolism anomaly" 0 2 0 0 0 0 CL:0001066 "erythroid progenitor cell, mammalian" 1 1 0 0 0 0 http://identifiers.org/hgnc/1397 "CACNA1S" 0 0 0 0 0 0 MONDO:0007652 "gastric mucosal hypertrophy" 1 15 0 0 0 0 MONDO:0001449 "lymphocytic choriomeningitis" 1 5 0 0 0 1 -MONDO:0000337 "exanthema subitum" 1 12 0 0 0 0 -MONDO:0014673 "cataract 44" 1 6 0 0 0 1 +MONDO:0000337 "exanthema subitum" 1 10 0 0 0 0 +MONDO:0014673 "cataract 44" 1 5 0 0 0 1 MONDO:0011028 "autosomal recessive limb-girdle muscular dystrophy type 2F" 1 7 0 0 0 1 MONDO:0016676 "recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome" 1 4 0 0 0 0 CHEBI:27314 "water-soluble vitamin" 0 0 0 0 0 0 @@ -20169,13 +20187,13 @@ MONDO:0021039 "extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal http://identifiers.org/hgnc/12011 "TPM2" 0 0 0 0 0 0 http://identifiers.org/hgnc/12012 "TPM3" 0 0 0 0 0 0 HP:0002904 "Hyperbilirubinemia" 1 2 0 0 0 0 -MONDO:0019187 "Axenfeld-Rieger syndrome" 1 16 0 0 0 0 +MONDO:0019187 "Axenfeld-Rieger syndrome" 1 15 0 0 0 0 MONDO:0015250 "spinal atrophy-ophthalmoplegia-pyramidal syndrome" 1 5 0 0 0 0 MONDO:0030329 "megacystis-microcolon-intestinal hypoperistalsis syndrome 5" 0 1 0 0 0 0 UBERON:0005891 "coelomic epithelium" 0 0 0 0 0 0 MONDO:0000096 "obsolete pulmonary surfactant metabolism dysfunction" 0 0 0 0 0 0 UBERON:0004495 "skeletal muscle tissue of diaphragm" 0 0 0 0 0 1 -MONDO:0005566 "neonatal abstinence syndrome" 1 9 0 0 0 0 +MONDO:0005566 "neonatal abstinence syndrome" 1 8 0 0 0 0 MONDO:0015643 "photosensitive epilepsy" 1 11 0 0 0 1 MONDO:0014547 "combined oxidative phosphorylation defect type 24" 1 6 0 0 0 1 MONDO:0007550 "epidermolysis bullosa simplex 1A, generalized severe" 1 7 0 0 0 0 @@ -20200,8 +20218,8 @@ MONDO:0010120 "thrombocytopenia 3" 0 5 0 0 0 1 MONDO:0013695 "colorectal cancer, hereditary nonpolyposis, type 6" 1 5 0 0 0 1 GO:0015721 "bile acid and bile salt transport" 1 0 0 0 0 0 UBERON:0001643 "oculomotor nerve" 0 0 0 0 0 1 -MONDO:0013402 "retinitis pigmentosa 27" 1 5 0 0 0 1 -MONDO:0001212 "non-suppurative otitis media" 1 7 0 0 0 0 +MONDO:0013402 "retinitis pigmentosa 27" 1 4 0 0 0 1 +MONDO:0001212 "non-suppurative otitis media" 1 4 0 0 0 0 CL:0002559 "hair follicle cell" 1 0 0 0 0 1 HP:0001710 "Conotruncal defect" 1 1 0 0 0 0 MONDO:0018795 "syndromic constitutional thrombocytopenia" 0 2 0 0 0 0 @@ -20214,7 +20232,7 @@ MONDO:0020158 "eyelids malposition disorder" 0 2 0 0 0 0 MONDO:0020989 "hereditary persistence of fetal hemoglobin" 1 4 0 0 0 0 CL:0000126 "macroglial cell" 1 3 0 0 0 0 PATO:0000984 "porous" 1 0 0 0 0 0 -MONDO:0011984 "synpolydactyly type 2" 1 7 0 0 0 1 +MONDO:0011984 "synpolydactyly type 2" 1 5 0 0 0 1 MONDO:0019477 "obsolete angioimmunoblastic T-cell lymphoma" 0 0 0 0 0 0 BFO:0000141 "immaterial entity"@en 0 0 0 0 0 0 MONDO:0007708 "Kasabach-Merritt syndrome" 1 10 0 0 0 0 @@ -20223,7 +20241,7 @@ GO:0070132 "regulation of mitochondrial translational initiation" 1 0 0 0 0 1 MONDO:0015021 "hypotonia, ataxia, and delayed development syndrome" 0 2 0 0 0 0 CL:0000300 "gamete" 1 3 0 0 0 1 MONDO:0017942 "Hendra virus infection" 1 2 0 0 0 1 -MONDO:0001034 "marginal corneal ulcer" 0 5 0 0 0 0 +MONDO:0001034 "marginal corneal ulcer" 0 4 0 0 0 0 MONDO:0018738 "benign metanephric tumour" 1 3 0 0 0 1 GO:0015701 "bicarbonate transport" 1 0 0 0 0 0 MONDO:0011941 "mycobacterium tuberculosis, susceptibility to, 1" 0 1 0 0 0 0 @@ -20232,7 +20250,7 @@ MONDO:0011039 "atrophia maculosa varioliformis cutis, familial" 0 3 0 0 0 0 MONDO:0012698 "Waardenburg syndrome type 2E" 1 5 0 0 0 1 PATO:0002304 "increased process quality" 1 0 0 0 0 1 MONDO:0008634 "urticaria, familial localized heat" 0 3 0 0 0 0 -MONDO:0001373 "urinary bladder posterior wall cancer" 0 5 0 0 0 0 +MONDO:0001373 "urinary bladder posterior wall cancer" 0 4 0 0 0 0 MONDO:0016937 "partial duplication of chromosome 19" 0 2 0 0 0 1 MONDO:0024315 "parasitic endophthalmitis" 1 4 0 0 0 1 UBERON:0001018 "axon tract" 0 0 0 0 0 0 @@ -20257,10 +20275,10 @@ MONDO:0010756 "Von Willebrand disease, X-linked form" 0 4 0 0 0 0 MONDO:0000868 "obsolete mitochondrial DNA depletion syndrome 6" 0 0 0 0 0 0 GO:0043900 "obsolete regulation of multi-organism process" 1 0 0 0 0 0 MONDO:0012307 "familial scaphocephaly syndrome, McGillivray type" 1 5 0 0 0 0 -MONDO:0012717 "renal hypomagnesemia 4" 1 6 0 0 0 1 +MONDO:0012717 "renal hypomagnesemia 4" 1 5 0 0 0 1 MONDO:0037735 "sebaceous gland cancer" 1 2 0 0 0 1 -MONDO:0000955 "ileum cancer" 1 3 0 0 0 1 -MONDO:0005753 "epiglottitis" 1 10 0 0 0 1 +MONDO:0000955 "ileum cancer" 1 2 0 0 0 1 +MONDO:0005753 "epiglottitis" 1 8 0 0 0 1 MONDO:0010145 "tibia, absence of, with congenital deafness" 0 3 0 0 0 0 UBERON:0014675 "distal interphalangeal joint of pedal digit 5" 0 0 0 0 0 1 MONDO:0016931 "partial duplication of chromosome 10" 0 2 0 0 0 1 @@ -20286,7 +20304,7 @@ MONDO:0019764 "laryngotracheoesophageal cleft type 4" 1 3 0 0 0 0 UBERON:0009920 "optic neural crest" 0 0 0 0 0 0 http://identifiers.org/hgnc/1938 "CHKB" 0 0 0 0 0 0 GO:0005216 "ion channel activity" 1 0 0 0 0 0 -MONDO:0008075 "neurofibromatosis type 3" 1 13 0 0 0 0 +MONDO:0008075 "neurofibromatosis type 3" 1 12 0 0 0 0 MONDO:0002788 "papillary craniopharyngioma" 1 6 0 0 0 0 MONDO:0019761 "laryngotracheoesophageal cleft type 1" 1 3 0 0 0 0 CHEBI:24913 "isoprenoid" 1 0 0 0 0 0 @@ -20330,12 +20348,12 @@ MONDO:0002569 "gastric dilatation" 1 3 0 0 0 0 GO:0023051 "regulation of signaling" 1 0 0 0 0 1 MONDO:0043005 "genetic multiple congenital anomalies/dysmorphic syndrome" 1 1 0 0 0 1 http://identifiers.org/hgnc/6493 "LAMC2" 0 0 0 0 0 0 -MONDO:0003059 "bile duct cancer" 1 5 0 0 0 1 +MONDO:0003059 "bile duct cancer" 1 4 0 0 0 1 MONDO:0002389 "obsolete adenofibroma" 0 0 0 0 0 0 MONDO:0010105 "teratoma, pineal" 0 3 0 0 0 0 MONDO:0000690 "body dysmorphic disorder" 1 4 0 0 0 0 http://identifiers.org/hgnc/6470 "L1CAM" 0 0 0 0 0 0 -MONDO:0009292 "glycogen storage disease due to glycogen branching enzyme deficiency" 1 16 0 0 0 1 +MONDO:0009292 "glycogen storage disease due to glycogen branching enzyme deficiency" 1 15 0 0 0 1 UBERON:0006562 "pharynx" 0 0 0 0 0 0 http://identifiers.org/hgnc/1393 "CACNA1F" 0 0 0 0 0 0 MONDO:0016557 "leukonychia totalis" 1 6 0 0 0 0 @@ -20355,7 +20373,7 @@ UBERON:0003218 "ovary septum" 0 0 0 0 0 1 GO:0050896 "response to stimulus" 1 0 0 0 0 0 NCBITaxon:2169561 "Ortervirales" 0 1 0 0 0 0 MONDO:0030437 "congenital disorder of glycosylation, type IIw" 0 1 0 0 0 0 -MONDO:0004854 "ophthalmia neonatorum" 1 7 0 0 0 0 +MONDO:0004854 "ophthalmia neonatorum" 1 6 0 0 0 0 UBERON:0001528 "radio-ulnar joint" 0 0 0 0 0 1 MONDO:0009778 "olivopontocerebellar atrophy II, autosomal recessive" 0 3 0 0 0 0 MONDO:0016932 "partial duplication of chromosome 11" 0 2 0 0 0 1 @@ -20384,20 +20402,20 @@ HP:0040006 "Mortality/Aging" 0 1 0 0 0 0 GO:0050708 "regulation of protein secretion" 1 0 0 0 0 1 MONDO:0010466 "multiple congenital anomalies-hypotonia-seizures syndrome 2" 1 6 0 0 0 1 UBERON:0004919 "external urethral sphincter" 0 0 0 0 0 0 -MONDO:0017283 "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion" 0 4 0 0 0 0 +MONDO:0017283 "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion" 0 3 0 0 0 0 MONDO:0004829 "Krukenberg carcinoma" 1 7 0 0 0 1 NCBITaxon:28844 "Diphyllobothrium" 0 1 0 0 0 0 MONDO:0018462 "Angelman syndrome due to imprinting defect in 15q11-q13" 0 3 0 0 0 0 MONDO:0032911 "hearing loss, autosomal dominant 75" 0 1 0 0 0 0 UBERON:0015055 "pubic endochondral element" 0 0 0 0 0 1 -MONDO:0006835 "lipoid nephrosis" 1 9 0 0 0 0 +MONDO:0006835 "lipoid nephrosis" 1 8 0 0 0 0 MONDO:0019935 "isochromosome Y" 0 2 0 0 0 0 MONDO:0006542 "obsolete epidermolysis bullosa acquisita" 1 0 0 0 0 0 HP:0008063 "Aplasia/Hypoplasia of the lens" 1 1 0 0 0 0 CHR:9606-chr13q "13q (Human)" 0 0 0 0 0 0 MONDO:0011516 "early response to neural induction gene" 0 1 0 0 0 0 MONDO:0007214 "brachydactyly-preaxial hallux varus syndrome" 1 7 0 0 0 0 -MONDO:0001378 "urachus cancer" 1 5 0 0 0 1 +MONDO:0001378 "urachus cancer" 1 4 0 0 0 1 MONDO:0008495 "platelet storage pool deficiency" 1 8 0 0 0 0 MONDO:0022025 "boylan dew greco syndrome" 0 3 0 0 0 0 MONDO:0010697 "ophthalmoplegia, external, and myopia" 0 3 0 0 0 0 @@ -20414,7 +20432,7 @@ MONDO:0006724 "obsolete desmoplastic small round cell tumor" 0 0 0 0 0 0 GO:0051350 "negative regulation of lyase activity" 1 0 0 0 0 1 MONDO:8000003 "streptococcus pneumoniae discitis" 1 0 0 0 0 1 MONDO:0032917 "hearing loss, autosomal dominant 76" 0 1 0 0 0 0 -MONDO:0001869 "paraurethral gland cancer" 1 5 0 0 0 1 +MONDO:0001869 "paraurethral gland cancer" 1 4 0 0 0 1 MONDO:0021971 "obsolete Baraitser Rodeck garner syndrome" 0 0 0 0 0 0 GO:1904315 "transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential" 1 0 0 0 0 1 MONDO:0042913 "Schrander-stumpel-Theunissen-Hulsmans syndrome" 0 3 0 0 0 0 @@ -20425,7 +20443,7 @@ MONDO:0004547 "reticular pattern testicular yolk sac tumor" 1 3 0 0 0 0 http://identifiers.org/hgnc/19440 "SBDS" 0 0 0 0 0 0 MONDO:0100221 "IFAP syndrome 2" 0 1 0 0 0 0 GO:0002562 "somatic diversification of immune receptors via germline recombination within a single locus" 1 0 0 0 0 0 -MONDO:0010170 "Usher syndrome type 3A" 1 6 0 0 0 1 +MONDO:0010170 "Usher syndrome type 3A" 1 5 0 0 0 1 MONDO:0007194 "familial bicuspid aortic valve" 1 8 0 0 0 0 UBERON:0004928 "submucosa of appendix" 0 0 0 0 0 1 GO:0003071 "renal system process involved in regulation of systemic arterial blood pressure" 1 0 0 0 0 1 @@ -20486,7 +20504,7 @@ GO:1903797 "positive regulation of inorganic anion transmembrane transport" 1 0 MONDO:0016865 "Kleefstra syndrome due to a point mutation" 0 3 0 0 0 0 MONDO:0008159 "postmenopausal osteoporosis" 1 5 0 0 0 0 UBERON:0004116 "nerve of tympanic cavity" 0 0 0 0 0 1 -MONDO:0001317 "phlyctenulosis" 0 5 0 0 0 0 +MONDO:0001317 "phlyctenulosis" 0 4 0 0 0 0 GO:0070256 "negative regulation of mucus secretion" 1 0 0 0 0 1 HP:0008776 "Abnormal renal artery morphology" 1 1 0 0 0 0 MONDO:0018472 "familial isolated trichomegaly" 1 4 0 0 0 0 @@ -20523,18 +20541,18 @@ MONDO:0009248 "fructose and galactose intolerance" 0 3 0 0 0 0 MONDO:0014165 "multiple congenital anomalies-hypotonia-seizures syndrome 3" 1 5 0 0 0 1 UBERON:0005879 "pharyngeal cleft" 0 0 0 0 0 0 MONDO:0016830 "Emery-Dreifuss muscular dystrophy" 1 17 0 0 0 0 -MONDO:0006718 "cutaneous syphilis" 1 3 0 0 0 1 +MONDO:0006718 "cutaneous syphilis" 1 2 0 0 0 1 http://identifiers.org/hgnc/8653 "PCCA" 0 0 0 0 0 0 GO:0034645 "cellular macromolecule biosynthetic process" 1 0 0 0 0 0 HsapDv:0000141 "47-year-old human stage" 1 0 0 0 0 0 -MONDO:0017996 "obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency" 0 2 0 0 0 0 +MONDO:0017996 "obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency" 0 3 0 0 0 0 MONDO:0004541 "pseudoglandular variant testicular seminoma" 1 3 0 0 0 0 MONDO:0018492 "hereditary clear cell renal cell carcinoma" 1 7 0 0 0 1 UBERON:0000307 "blastula" 0 0 0 0 0 1 MONDO:0007480 "dwarfism with stiff joints and ocular abnormalities" 0 5 0 0 0 0 MONDO:0009240 "formiminoglutamic aciduria" 1 9 0 0 0 0 MONDO:0003461 "fallopian tube serous adenofibroma" 1 3 0 0 0 1 -MONDO:0007142 "Townes-Brocks syndrome" 1 11 0 0 0 0 +MONDO:0007142 "Townes-Brocks syndrome" 1 13 0 0 0 0 HP:0012758 "Neurodevelopmental delay" 0 1 0 0 0 0 MONDO:0012807 "epidermolysis bullosa simplex 5C, with pyloric atresia" 1 6 0 0 0 0 MONDO:0015822 "acquired neutropenia" 1 1 0 0 0 1 @@ -20542,8 +20560,8 @@ MONDO:0000256 "systemic mycosis" 1 4 0 0 0 1 GO:0006707 "cholesterol catabolic process" 1 0 0 0 0 0 http://identifiers.org/hgnc/18647 "RTN4IP1" 0 0 0 0 0 0 MONDO:0001096 "mediastinum ganglioneuroblastoma" 1 3 0 0 0 1 -MONDO:0011441 "complex regional pain syndrome type 1" 1 18 0 0 0 0 -MONDO:0005829 "louping ill" 1 6 0 0 0 0 +MONDO:0011441 "complex regional pain syndrome type 1" 1 17 0 0 0 0 +MONDO:0005829 "louping ill" 1 5 0 0 0 0 MONDO:0020084 "lymphoproliferative disease associated with primary immune disease" 0 3 0 0 0 0 http://identifiers.org/hgnc/6487 "LAMB2" 0 0 0 0 0 0 MONDO:0013631 "lung cancer susceptibility 5" 0 2 0 0 0 0 @@ -20564,7 +20582,7 @@ GO:1903487 "regulation of lactation" 1 0 0 0 0 1 http://identifiers.org/hgnc/4584 "GRIN1" 0 0 0 0 0 0 UBERON:2001089 "myoseptum" 0 0 0 0 0 0 MONDO:0015665 "scleromyxedema" 1 10 0 0 0 1 -MONDO:0005059 "leukemia" 1 19 0 0 0 0 +MONDO:0005059 "leukemia" 1 16 0 0 0 0 MONDO:0020476 "mesial temporal lobe epilepsy with hippocampal sclerosis" 1 1 0 0 0 0 MONDO:0009249 "hereditary fructose intolerance" 1 11 0 0 0 0 UBERON:0006864 "distal metaphysis of femur" 0 0 0 0 0 1 @@ -20583,7 +20601,7 @@ UBERON:0008342 "intestinal villus of duodenum" 0 0 0 0 0 1 MONDO:0003226 "obsolete Nelson syndrome" 0 0 0 0 0 0 GO:2000382 "positive regulation of mesoderm development" 1 0 0 0 0 1 http://identifiers.org/hgnc/6486 "LAMB1" 0 0 0 0 0 0 -MONDO:0016691 "pilocytic astrocytoma" 1 11 0 0 0 0 +MONDO:0016691 "pilocytic astrocytoma" 1 10 0 0 0 0 UBERON:0029636 "lumbar spinal cord gray matter" 0 0 0 0 0 1 MONDO:0017695 "glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form" 0 4 0 0 0 0 CL:0002364 "cortical thymic epithelial cell" 1 1 0 0 0 1 @@ -20594,7 +20612,7 @@ MONDO:0021633 "cerebral astrocytoma" 1 2 0 0 0 1 MONDO:0011393 "hypoalphalipoproteinemia, primary, 1" 1 3 0 0 0 0 MONDO:0016182 "qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase" 0 1 0 0 0 1 MONDO:0019417 "X-linked intellectual disability-precocious puberty-obesity syndrome" 1 3 0 0 0 0 -MONDO:0004492 "mediastinitis" 1 8 0 0 0 1 +MONDO:0004492 "mediastinitis" 1 7 0 0 0 1 MONDO:0002091 "obsolete cryptosporidiosis" 0 0 0 0 0 0 MONDO:0021458 "benign neoplasm of penis" 1 5 0 0 0 1 UBERON:0036245 "parenchyma of mammary gland" 0 0 0 0 0 1 @@ -20617,7 +20635,7 @@ MONDO:0008881 "kyphomelic dysplasia" 1 7 0 0 0 0 MONDO:0056822 "amyotonia congenita" 0 1 0 0 0 0 CL:0000153 "glycosaminoglycan secreting cell" 1 0 0 0 0 0 UBERON:0005175 "chest organ" 0 0 0 0 0 1 -MONDO:0015692 "refractory anemia with excess blasts in transformation" 1 10 0 0 0 0 +MONDO:0015692 "refractory anemia with excess blasts in transformation" 1 9 0 0 0 0 MONDO:0036595 "ovarian Sertoli-Leydig cell tumor" 1 4 0 0 0 0 MONDO:0017365 "hereditary acrokeratotic poikiloderma, Weary type" 0 2 0 0 0 0 NCBITaxon:5073 "Penicillium" 0 1 0 0 0 0 @@ -20659,7 +20677,7 @@ MONDO:0017363 "idiopathic chronic eosinophilic pneumonia" 1 4 0 0 0 0 MONDO:0016981 "infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome" 0 2 0 0 0 0 MONDO:0007731 "obsolete HLA modifier" 0 0 0 0 0 0 MONDO:0006134 "cervical adenosquamous carcinoma" 1 6 0 0 0 0 -MONDO:0008171 "nephrolithiasis" 1 12 0 0 0 0 +MONDO:0008171 "nephrolithiasis" 1 10 0 0 0 0 CL:1000285 "smooth muscle cell of sigmoid colon" 1 1 0 0 0 1 NCBITaxon:33758 "Echovirus" 0 1 0 0 0 0 MONDO:0018297 "obsolete hypotonia-speech impairment-severe cognitive delay syndrome" 0 0 0 0 0 0 @@ -20713,24 +20731,24 @@ MONDO:0019010 "congenital isolated hyperinsulinism" 1 4 0 0 0 0 MONDO:0015779 "45,X/46,XY mixed gonadal dysgenesis" 1 4 0 0 0 0 HP:0012219 "Erythema nodosum" 1 3 0 0 0 0 UBERON:0034908 "scapular muscle" 0 0 0 0 0 1 -MONDO:0005147 "type 1 diabetes mellitus" 1 15 0 0 0 0 +MONDO:0005147 "type 1 diabetes mellitus" 1 14 0 0 0 0 UBERON:0004535 "cardiovascular system" 0 0 0 0 0 1 NCBITaxon:31286 "Trypanosoma brucei rhodesiense" 0 1 0 0 0 0 MONDO:0020119 "X-linked syndromic intellectual disability" 1 3 0 0 0 1 MONDO:0014860 "polycystic liver disease 2" 1 2 0 0 0 0 +MONDO:0003778 "inborn errors of immunity" 1 12 0 0 0 0 GO:1990266 "neutrophil migration" 1 0 0 0 0 0 -MONDO:0001451 "peripheral retinal degeneration" 1 8 0 0 0 0 +MONDO:0001451 "peripheral retinal degeneration" 1 7 0 0 0 0 MONDO:0011835 "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis" 1 12 0 0 0 0 HP:0007513 "Generalized hypopigmentation" 0 1 0 0 0 0 GO:0043413 "macromolecule glycosylation" 1 0 0 0 0 0 -MONDO:0019563 "CREST syndrome" 1 10 0 0 0 0 +MONDO:0019563 "CREST syndrome" 1 9 0 0 0 0 UBERON:0036303 "vasculature of central nervous system" 0 0 0 0 0 1 MONDO:0040654 "autosomal dominant oculocutaneous albinism" 1 1 0 0 0 1 UBERON:0005058 "hemolymphoid system gland" 0 0 0 0 0 1 GO:0034311 "diol metabolic process" 1 0 0 0 0 0 http://identifiers.org/hgnc/4699 "GYG1" 0 0 0 0 0 0 MONDO:0024555 "megalencephalic leukoencephalopathy with subcortical cysts 1" 0 3 0 0 0 0 -MONDO:0017002 "polysomy of X chromosome" 0 1 0 0 0 0 CL:1000435 "epithelial cell of lacrimal duct" 1 1 0 0 0 1 http://identifiers.org/hgnc/7981 "NR4A2" 0 0 0 0 0 0 http://identifiers.org/hgnc/7982 "NR4A3" 0 0 0 0 0 0 @@ -20745,7 +20763,7 @@ NCBITaxon:2085 "Mycoplasmatales" 0 2 0 0 0 0 UBERON:0036286 "wall of right ventricle" 0 0 0 0 0 1 MONDO:0007056 "acroosteolysis" 1 5 0 0 0 0 MONDO:0009360 "hydrocephalus, nonsyndromic, autosomal recessive 1" 1 4 0 0 0 1 -MONDO:0001745 "subserous uterine fibroid" 0 5 0 0 0 0 +MONDO:0001745 "subserous uterine fibroid" 0 4 0 0 0 0 MONDO:0000780 "obsolete apricot allergy" 1 1 0 0 0 0 MONDO:0044144 "panic disorder with agoraphobia" 1 2 0 0 0 1 http://identifiers.org/hgnc/8818 "SLC26A4" 0 0 0 0 0 0 @@ -20775,7 +20793,7 @@ CL:0002305 "epithelial cell of distal tubule" 1 3 0 0 0 1 MONDO:0016760 "microcephaly-microcornea syndrome, Seemanova type" 1 5 0 0 0 0 ENVO:01000271 "clastic sedimentary rock" 1 0 0 0 0 0 http://identifiers.org/hgnc/19185 "FRAS1" 0 0 0 0 0 0 -MONDO:0002929 "pulmonary immaturity" 0 4 0 0 0 0 +MONDO:0002929 "pulmonary immaturity" 0 3 0 0 0 0 MONDO:0006754 "esophageal diverticulosis" 1 4 0 0 0 0 http://identifiers.org/hgnc/26274 "NARS2" 0 0 0 0 0 0 UBERON:0008331 "clitoral smooth muscle" 0 0 0 0 0 1 @@ -20790,7 +20808,7 @@ MONDO:0003653 "stork bite" 0 2 0 0 0 0 MONDO:0019007 "vaginal atresia" 0 4 0 0 0 0 http://identifiers.org/hgnc/12572 "UNG" 0 0 0 0 0 0 http://identifiers.org/hgnc/4279 "GJA5" 0 0 0 0 0 0 -MONDO:0012990 "Leber congenital amaurosis 13" 1 6 0 0 0 1 +MONDO:0012990 "Leber congenital amaurosis 13" 1 5 0 0 0 1 MONDO:0017287 "IgG4-related disease" 1 7 0 0 0 0 http://identifiers.org/hgnc/10664 "CWC27" 0 0 0 0 0 0 MONDO:0013063 "ventricular fibrillation, paroxysmal familial, 2" 1 4 0 0 0 1 @@ -20814,7 +20832,7 @@ MONDO:0011857 "atrial fibrillation, familial, 3" 1 4 0 0 0 1 NCBITaxon:151340 "Papillomaviridae" 0 2 0 0 0 0 GO:0030964 "NADH dehydrogenase complex" 1 0 0 0 0 0 UBERON:0001911 "mammary gland" 1 0 0 0 0 1 -MONDO:0012527 "cataract 11 multiple types" 1 7 0 0 0 1 +MONDO:0012527 "cataract 11 multiple types" 1 6 0 0 0 1 UBERON:0001707 "nasal cavity" 0 0 0 0 0 0 http://identifiers.org/hgnc/26784 "MTRFR" 0 0 0 0 0 0 http://identifiers.org/hgnc/1068 "BMP15" 0 0 0 0 0 0 @@ -20823,7 +20841,7 @@ MONDO:0003614 "intravenous leiomyomatosis" 1 7 0 0 0 0 UBERON:0036990 "wall of pharyngotympanic tube" 0 0 0 0 0 1 MONDO:0015887 "obsolete rare diabetes mellitus type 2" 0 1 0 0 0 0 MONDO:0005269 "carotid artery disorder" 1 7 0 0 0 1 -MONDO:0016293 "congenital stationary night blindness" 0 22 0 0 0 0 +MONDO:0016293 "congenital stationary night blindness" 0 21 0 0 0 0 MONDO:0023101 "facio digito genital syndrome recessive form" 0 1 0 0 0 0 MONDO:0018636 "autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome" 0 3 0 0 0 0 CHEBI:36908 "argon molecular entity" 0 0 0 0 0 0 @@ -20847,16 +20865,18 @@ UBERON:0034907 "pineal parenchyma" 0 0 0 0 0 1 MONDO:0004262 "breast myoepitheliosis" 1 3 0 0 0 0 MONDO:0013783 "microphthalmia, isolated, with coloboma 7" 1 3 0 0 0 1 MONDO:0006845 "male genital tuberculosis" 1 5 0 0 0 1 +MONDO:0009125 "obsolete dopamine beta-hydroxylase, plasma, thermolability of" 0 1 0 0 0 0 HP:0100303 "Muscle fiber cytoplasmatic inclusion bodies" 1 1 0 0 0 0 http://identifiers.org/hgnc/29536 "MAPKBP1" 0 0 0 0 0 0 -MONDO:0009010 "aortic arch interruption" 1 7 0 0 0 0 +MONDO:0009010 "aortic arch interruption" 1 6 0 0 0 0 UBERON:0009758 "abdominal ganglion" 0 0 0 0 0 1 http://identifiers.org/hgnc/7121 "MKS1" 0 0 0 0 0 0 MONDO:0014504 "Perrault syndrome 5" 1 3 0 0 0 1 MONDO:0007182 "Machado-Joseph disease" 1 10 0 0 0 0 NCBITaxon:204428 "Chlamydiae" 0 4 0 0 0 0 MONDO:0000156 "trigonocephaly" 0 1 0 0 0 0 -MONDO:0007288 "cataract 6 multiple types" 1 7 0 0 0 1 +MONDO:0030032 "obsolete chromosome 17q11.2 duplication syndrome, 1.4-mb" 0 0 0 0 0 0 +MONDO:0007288 "cataract 6 multiple types" 1 6 0 0 0 1 MONDO:0014371 "developmental and epileptic encephalopathy, 23" 0 5 0 0 0 0 HP:0000005 "Mode of inheritance" 1 1 0 0 0 0 NCBITaxon:10241 "Chordopoxvirinae" 0 1 0 0 0 0 @@ -20881,12 +20901,12 @@ MONDO:0018849 "dentinogenesis imperfecta" 1 13 0 0 0 0 MONDO:0015039 "lissencephaly with cerebellar hypoplasia type F" 1 5 0 0 0 0 MONDO:0020302 "Angelman syndrome due to maternal 15q11q13 deletion" 0 3 0 0 0 0 MONDO:0100262 "peroxisome biogenesis disorder due to PEX5 defect" 1 0 0 0 0 0 -MONDO:0012923 "congenital generalized lipodystrophy type 3" 1 7 0 0 0 1 +MONDO:0012923 "congenital generalized lipodystrophy type 3" 1 6 0 0 0 1 MONDO:0003668 "extragonadal seminoma" 0 3 0 0 0 0 UBERON:0003314 "eye mesenchyme" 0 0 0 0 0 1 http://identifiers.org/hgnc/4277 "GJA3" 0 0 0 0 0 0 CHEBI:48901 "thiazoles" 1 0 0 0 0 0 -MONDO:0009958 "adult Refsum disease" 1 16 0 0 0 0 +MONDO:0009958 "adult Refsum disease" 1 14 0 0 0 0 CL:0000048 "multi fate stem cell" 1 1 0 0 0 1 MONDO:0010760 "XH antigen" 0 1 0 0 0 0 MONDO:0004919 "infected hydrocele" 0 5 0 0 0 0 @@ -20907,7 +20927,7 @@ CHEBI:25340 "methylpyridines" 1 0 0 0 0 0 CHR:9606-chr8p11.2 "8p11.2 (Human)" 0 0 0 0 0 0 NCBITaxon:482538 "Cystoisospora belli" 0 1 0 0 0 0 MONDO:0020688 "spinal cord ischemia" 1 1 0 0 0 0 -MONDO:0004849 "pulmonary emphysema" 1 12 0 0 0 0 +MONDO:0004849 "pulmonary emphysema" 1 11 0 0 0 0 MONDO:0008931 "Cenani-Lenz syndactyly syndrome" 1 8 0 0 0 0 http://identifiers.org/hgnc/2852 "DGKE" 0 0 0 0 0 0 CL:0000845 "marginal zone B cell of spleen" 1 0 0 0 0 0 @@ -20934,7 +20954,7 @@ MONDO:0021206 "chronic non-suppurative otitis media" 1 3 0 0 0 1 MONDO:0021811 "acute mountain sickness" 1 4 0 0 0 0 UBERON:0005418 "hindlimb bud" 0 0 0 0 0 1 MONDO:0020796 "Silver-Russell syndrome 1" 0 1 0 0 0 0 -MONDO:0004659 "eye carcinoma in situ" 1 5 0 0 0 1 +MONDO:0004659 "eye carcinoma in situ" 1 4 0 0 0 1 MONDO:0008385 "rhiny" 0 2 0 0 0 0 MONDO:0018359 "neonatal dermatomyositis" 0 2 0 0 0 0 HP:0002090 "Pneumonia" 1 3 0 0 0 0 @@ -20963,7 +20983,7 @@ MONDO:0007151 "arms, malformation of" 0 2 0 0 0 0 UBERON:0014541 "thoracic division of spinal cord central canal" 0 0 0 0 0 1 MONDO:0014096 "microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome" 1 6 0 0 0 0 UBERON:0009953 "post-embryonic organism" 0 0 0 0 0 1 -MONDO:0004936 "uterine inversion" 1 6 0 0 0 0 +MONDO:0004936 "uterine inversion" 1 5 0 0 0 0 MONDO:0020439 "patent foramen ovale" 1 8 0 0 0 0 MONDO:0020621 "obsolete blood group--scianna system" 0 1 0 0 0 0 CHEBI:58570 "D-tyrosine zwitterion" 1 0 0 0 0 0 @@ -20975,7 +20995,7 @@ CL:0002017 "Kit-negative, Ly-76 high orthochromatophilic erythroblasts" 1 0 0 0 MONDO:0042705 "prostatic malacoplakia associated with prostatic abscess" 0 3 0 0 0 0 UBERON:0010335 "maxillary process mesenchyme from head mesenchyme" 0 0 0 0 0 1 MONDO:0013129 "cone dystrophy 4" 1 4 0 0 0 1 -MONDO:0004907 "alopecia" 1 11 0 0 0 0 +MONDO:0004907 "alopecia" 1 10 0 0 0 0 MONDO:0003812 "ovarian endometrial cancer" 1 3 0 0 0 1 GO:0045605 "negative regulation of epidermal cell differentiation" 1 0 0 0 0 1 MONDO:0017813 "van Maldergem syndrome" 1 7 0 0 0 0 @@ -20989,7 +21009,7 @@ GO:0016832 "aldehyde-lyase activity" 1 0 0 0 0 0 UBERON:0013399 "blood vessel layer of choroid" 0 0 0 0 0 0 MONDO:0002477 "prostate neuroendocrine neoplasm" 1 4 0 0 0 1 UBERON:0002409 "pericardial fluid" 0 0 0 0 0 1 -MONDO:0003432 "strabismus" 1 8 0 0 0 0 +MONDO:0003432 "strabismus" 1 6 0 0 0 0 MONDO:0009925 "autosomal recessive inherited pseudoxanthoma elasticum" 1 13 0 0 0 1 MONDO:0022805 "colonic malakoplakia" 0 1 0 0 0 0 UBERON:0015152 "gland of ocular region" 0 0 0 0 0 1 @@ -21004,11 +21024,11 @@ HP:0033095 "Increased sulfur amino acid level in urine" 1 0 0 0 0 0 http://identifiers.org/hgnc/3052 "DSP" 0 0 0 0 0 0 MONDO:0013217 "Diamond-Blackfan anemia 10" 1 3 0 0 0 1 MONDO:0002079 "obsolete neuroendocrine tumor" 0 0 0 0 0 0 -MONDO:0044354 "Rosai-Dorfman disease" 1 4 0 0 0 0 +MONDO:0044354 "Rosai-Dorfman disease" 1 3 0 0 0 0 UBERON:0002109 "pair of nares" 0 0 0 0 0 1 UBERON:0003696 "metatarsophalangeal joint" 0 0 0 0 0 1 MONDO:0024382 "circadian rhythm sleep disorder, shift work type" 1 2 0 0 0 0 -MONDO:0004799 "ulcerative blepharitis" 0 5 0 0 0 0 +MONDO:0004799 "ulcerative blepharitis" 0 4 0 0 0 0 MONDO:0008689 "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema" 0 3 0 0 0 0 UBERON:0006285 "pubic pre-cartilage condensation" 0 0 0 0 0 1 http://identifiers.org/hgnc/4979 "MNX1" 0 0 0 0 0 0 @@ -21017,7 +21037,7 @@ http://identifiers.org/hgnc/29262 "IFT80" 0 0 0 0 0 0 MONDO:0018311 "acromelanosis" 1 5 0 0 0 0 MONDO:0007426 "deafness, unilateral" 0 3 0 0 0 0 PO:0025131 "plant anatomical entity" 1 1 0 0 0 0 -MONDO:0015681 "childhood disintegrative disorder" 1 8 0 0 0 0 +MONDO:0015681 "childhood disintegrative disorder" 1 7 0 0 0 0 GO:0032228 "regulation of synaptic transmission, GABAergic" 1 0 0 0 0 1 MONDO:0022932 "Davenport-Donlan syndrome" 1 4 0 0 0 0 MONDO:0030522 "spermatogenic failure 64" 0 1 0 0 0 0 @@ -21028,10 +21048,9 @@ MONDO:0017010 "partial duplication of the long arm of chromosome X" 1 5 0 0 0 1 CHEBI:33247 "organic group" 1 0 0 0 0 0 UBERON:2001364 "hemal spine" 0 0 0 0 0 0 GO:0018549 "methanethiol oxidase activity" 1 0 0 0 0 0 -MONDO:0008548 "theophylline Biotransformation" 0 2 0 0 0 0 GO:0015849 "organic acid transport" 1 0 0 0 0 0 MONDO:0020977 "granulomatous prostatitis" 1 4 0 0 0 0 -MONDO:0017817 "primary localized amyloidosis" 1 2 0 0 0 0 +MONDO:0017817 "primary localized amyloidosis" 1 1 0 0 0 0 NCBITaxon:464095 "Picornavirales" 0 1 0 0 0 0 http://identifiers.org/hgnc/4586 "GRIN2B" 0 0 0 0 0 0 MONDO:0011014 "pleuropulmonary blastoma" 1 18 0 0 0 1 @@ -21060,7 +21079,6 @@ MONDO:0043693 "alcoholic liver diseases" 1 4 0 0 0 1 MONDO:0015037 "lissencephaly with cerebellar hypoplasia type D" 1 5 0 0 0 0 MONDO:0007920 "lymphatic malformation 5" 1 9 0 0 0 0 MONDO:0017851 "erythrokeratodermia variabilis" 1 14 0 0 0 0 -MONDO:0000651 "thoracic disorder" 1 7 0 0 0 1 http://identifiers.org/hgnc/7518 "MUC7" 0 0 0 0 0 0 MONDO:0003094 "obsolete mucoepidermoid thyroid carcinoma" 0 0 0 0 0 0 UBERON:0000174 "excreta" 1 0 0 0 0 1 @@ -21068,7 +21086,7 @@ HP:0008207 "Primary adrenal insufficiency" 1 6 0 0 0 0 MONDO:0004294 "gestational ovarian choriocarcinoma" 1 3 0 0 0 1 MONDO:0033818 "Terrien marginal degeneration" 1 1 0 0 0 0 MONDO:0002409 "auditory system disorder" 1 6 0 0 0 1 -MONDO:0005070 "neoplasm" 1 12 0 0 0 0 +MONDO:0005070 "neoplasm" 1 16 0 0 0 0 MONDO:0017208 "obsolete intermediate uveitis" 0 0 0 0 0 0 GO:0098796 "membrane protein complex" 1 0 0 0 0 1 MONDO:0016787 "epithelioid trophoblastic tumor" 1 8 0 0 0 0 @@ -21076,7 +21094,7 @@ GO:0009892 "negative regulation of metabolic process" 1 0 0 0 0 1 ENVO:01001069 "metallic material"@en 1 0 0 0 0 0 MONDO:0009004 "obsolete combined inflammatory and immunologic defect" 0 0 0 0 0 0 UBERON:0005253 "head mesenchyme" 0 0 0 0 0 1 -MONDO:0001583 "diabetic polyneuropathy" 0 6 0 0 0 0 +MONDO:0001583 "diabetic polyneuropathy" 0 5 0 0 0 0 MONDO:0007543 "enolase, sperm specific" 0 1 0 0 0 0 NCBITaxon:1639 "Listeria monocytogenes" 0 4 0 0 0 0 MONDO:0015600 "X-linked intellectual disability, Cilliers type" 1 4 0 0 0 0 @@ -21093,7 +21111,7 @@ MONDO:0013849 "microcephaly 8, primary, autosomal recessive" 1 4 0 0 0 1 UBERON:0003946 "placenta labyrinth" 0 0 0 0 0 0 MONDO:0017862 "paraquat poisoning" 1 3 0 0 0 1 MONDO:0011442 "advanced sleep phase syndrome 1" 1 4 0 0 0 1 -MONDO:0013788 "Usher syndrome type 3B" 1 6 0 0 0 1 +MONDO:0013788 "Usher syndrome type 3B" 1 5 0 0 0 1 UBERON:0001770 "lacrimal canaliculus" 0 0 0 0 0 0 http://identifiers.org/hgnc/395 "ALAD" 0 0 0 0 0 0 UBERON:0017648 "ventral body wall" 0 0 0 0 0 1 @@ -21109,6 +21127,7 @@ UBERON:0002315 "gray matter of spinal cord" 0 0 0 0 0 1 MONDO:0019328 "macrocystic lymphatic malformation" 1 4 0 0 0 0 MONDO:0000146 "obsolete progeroid syndrome" 0 0 0 0 0 0 MONDO:0024521 "aortic aneurysm, familial abdominal, 1" 0 3 0 0 0 0 +MONDO:0100489 "Graves disease, susceptibility to, 1" 0 1 0 0 0 0 HP:0002410 "Aqueductal stenosis" 1 2 0 0 0 0 GO:0006563 "L-serine metabolic process" 1 0 0 0 0 0 MONDO:0011084 "psoriasis 3, susceptibility to" 0 2 0 0 0 0 @@ -21119,6 +21138,7 @@ GO:0006110 "regulation of glycolytic process" 1 0 0 0 0 1 GO:1901715 "regulation of gamma-aminobutyric acid catabolic process" 1 0 0 0 0 1 http://identifiers.org/hgnc/29205 "ERGIC1" 0 0 0 0 0 0 UBERON:0010585 "pedal digit phalanx pre-cartilage condensation" 0 0 0 0 0 1 +MONDO:0044978 "obsolete disease of cell nucleus" 0 0 0 0 0 0 MONDO:0018945 "McLeod neuroacanthocytosis syndrome" 1 8 0 0 0 0 MONDO:0020841 "neurodevelopmental disorder with cerebellar atrophy and with or without seizures" 0 2 0 0 0 0 GO:1903650 "negative regulation of cytoplasmic transport" 1 0 0 0 0 1 @@ -21145,7 +21165,7 @@ GO:0001868 "regulation of complement activation, lectin pathway" 1 0 0 0 0 1 ENVO:01001091 "formation of a liquid aerosol from gaseous material in an atmosphere"@en 1 0 0 0 0 1 MONDO:0007683 "Grant syndrome" 1 7 0 0 0 0 GO:0098609 "cell-cell adhesion" 1 0 0 0 0 0 -MONDO:0006837 "low tension glaucoma" 1 8 0 0 0 0 +MONDO:0006837 "low tension glaucoma" 1 7 0 0 0 0 MONDO:0019193 "acquired generalized lipodystrophy" 1 7 0 0 0 1 MONDO:0019253 "metabolic disease involving other neurotransmitter deficiency" 0 2 0 0 0 0 UBERON:0009129 "right atrium endocardium" 0 0 0 0 0 1 @@ -21199,7 +21219,7 @@ MONDO:0010511 "vas deferens, congenital bilateral aplasia of, X-linked" 0 2 0 0 UBERON:0001332 "prepuce of penis" 0 0 0 0 0 1 UBERON:0001049 "neural tube" 0 0 0 0 0 0 MONDO:0019325 "phakomatosis cesioflammea" 0 5 0 0 0 0 -MONDO:0011104 "cataract 3 multiple types" 1 11 0 0 0 1 +MONDO:0011104 "cataract 3 multiple types" 1 10 0 0 0 1 HsapDv:0000104 "10-year-old human stage" 1 0 0 0 0 0 HP:0001762 "Talipes equinovarus" 1 6 0 0 0 0 MONDO:0010304 "Graves disease, susceptibility to, X-linked 1" 0 1 0 0 0 0 @@ -21226,13 +21246,13 @@ MONDO:0012803 "diarrhea-vomiting due to trehalase deficiency" 1 8 0 0 0 1 PATO:0000406 "curved" 1 0 0 0 0 0 http://identifiers.org/hgnc/11021 "SLC35A1" 0 0 0 0 0 0 http://identifiers.org/hgnc/11022 "SLC35A2" 0 0 0 0 0 0 -MONDO:0009971 "newborn respiratory distress syndrome" 1 12 0 0 0 1 +MONDO:0009971 "newborn respiratory distress syndrome" 1 11 0 0 0 1 http://identifiers.org/hgnc/11023 "SLC35A3" 0 0 0 0 0 0 -MONDO:0011897 "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome" 1 10 0 0 0 0 +MONDO:0011897 "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome" 1 9 0 0 0 0 MONDO:0015034 "lissencephaly with cerebellar hypoplasia type A" 1 3 0 0 0 0 HP:0010864 "Intellectual disability, severe" 1 2 0 0 0 0 MONDO:0004910 "mitral valve prolapse" 1 4 0 0 0 0 -MONDO:0002727 "olfactory nerve disorder" 1 7 0 0 0 1 +MONDO:0002727 "olfactory nerve disorder" 1 6 0 0 0 1 MONDO:0003415 "obsolete hemoglobin d disease" 0 0 0 0 0 0 GO:0061526 "acetylcholine secretion" 1 0 0 0 0 0 http://identifiers.org/hgnc/4588 "GRIN2D" 0 0 0 0 0 0 @@ -21262,7 +21282,7 @@ MONDO:0014677 "achromatopsia 7" 1 4 0 0 0 1 MONDO:0010357 "obsolete MRX78" 0 1 0 0 0 0 GO:0033605 "positive regulation of catecholamine secretion" 1 0 0 0 0 1 HP:0010979 "Abnormality of lipoprotein cholesterol concentration" 1 1 0 0 0 0 -MONDO:0002209 "heel spur" 1 7 0 0 0 1 +MONDO:0002209 "heel spur" 1 6 0 0 0 1 MONDO:0007552 "pretibial dystrophic epidermolysis bullosa" 1 7 0 0 0 0 MONDO:0001489 "obsolete urticaria pigmentosa" 0 0 0 0 0 0 MONDO:0016303 "congenitally uncorrected transposition of the great arteries with cardiac malformation" 0 2 0 0 0 0 @@ -21279,14 +21299,14 @@ http://identifiers.org/hgnc/5973 "IL13" 0 0 0 0 0 0 MONDO:0000531 "bronchus mucoepidermoid carcinoma" 1 1 0 0 0 1 UBERON:0035553 "left cardiac chamber" 0 0 0 0 0 1 CL:0000038 "erythroid progenitor cell" 1 1 0 0 0 0 -MONDO:0018149 "GM1 gangliosidosis" 1 13 0 0 0 0 +MONDO:0018149 "GM1 gangliosidosis" 1 12 0 0 0 0 MONDO:0015698 "transient hypogammaglobulinemia of infancy" 1 8 0 0 0 0 UBERON:0012292 "embryonic cloacal fold" 0 0 0 0 0 0 -MONDO:0019610 "Zollinger-Ellison syndrome" 1 14 0 0 0 0 -MONDO:0002154 "trichomoniasis" 1 10 0 0 0 1 +MONDO:0019610 "Zollinger-Ellison syndrome" 1 13 0 0 0 0 +MONDO:0002154 "trichomoniasis" 1 9 0 0 0 1 MONDO:0019536 "typical hemolytic-uremic syndrome" 1 5 0 0 0 0 MONDO:0000211 "striatal degeneration, autosomal dominant" 1 4 0 0 0 0 -MONDO:0005277 "migraine disorder" 1 11 0 0 0 0 +MONDO:0005277 "migraine disorder" 1 9 0 0 0 0 UBERON:0003388 "mesothelium of pericardial cavity" 0 0 0 0 0 1 MONDO:0002655 "cutaneous Paget disease" 1 1 0 0 0 1 MONDO:0011088 "congenital myasthenic syndrome 1A" 1 4 0 0 0 1 @@ -21296,7 +21316,7 @@ http://identifiers.org/hgnc/17213 "COLEC11" 0 0 0 0 0 0 MONDO:0004003 "obsolete pancreatic solid pseudopapillary carcinoma" 0 0 0 0 0 0 UBERON:0005656 "lens vesicle epithelium" 0 0 0 0 0 1 MONDO:0044980 "obsolete disease of signal transduction" 0 0 0 0 0 0 -MONDO:0003441 "dystonic disorder" 1 8 0 0 0 0 +MONDO:0003441 "dystonic disorder" 1 7 0 0 0 0 GO:0009069 "serine family amino acid metabolic process" 1 0 0 0 0 0 MONDO:0000239 "adiaspiromycosis" 1 5 0 0 0 1 MONDO:0005273 "obsolete refractory anemia with excess blasts" 0 0 0 0 0 0 @@ -21321,7 +21341,7 @@ NCBITaxon:28221 "Deltaproteobacteria" 0 6 0 0 0 0 MONDO:0003981 "obsolete cervix small cell carcinoma" 0 0 0 0 0 0 MONDO:0016387 "mitochondrial oxidative phosphorylation disorder" 0 2 0 0 0 1 GO:0031347 "regulation of defense response" 1 0 0 0 0 1 -MONDO:0005520 "rickets" 1 15 0 0 0 0 +MONDO:0005520 "rickets" 1 14 0 0 0 0 MONDO:0010508 "intellectual disability, X-linked 103" 1 2 0 0 0 1 MONDO:0005369 "carcinoid tumor" 1 10 0 0 0 0 GO:0044464 "cell part"@en 1 0 0 0 0 0 @@ -21338,8 +21358,8 @@ MONDO:0011871 "Niemann-Pick disease type B" 1 11 0 0 0 0 GO:0006807 "nitrogen compound metabolic process" 1 0 0 0 0 0 MONDO:0019960 "VIPoma" 1 13 0 0 0 0 MONDO:0017524 "polydactyly of a biphalangeal thumb, bilateral" 0 3 0 0 0 0 -MONDO:0005917 "placenta disorder" 1 15 0 0 0 1 -MONDO:0001691 "laryngeal cartilage cancer" 1 5 0 0 0 1 +MONDO:0005917 "placenta disorder" 1 13 0 0 0 1 +MONDO:0001691 "laryngeal cartilage cancer" 1 4 0 0 0 1 MONDO:0005670 "blackwater fever" 1 7 0 0 0 0 UBERON:0002544 "digit" 0 0 0 0 0 1 MONDO:0020720 "X-linked hypophosphatemic rickets" 0 3 0 0 0 1 @@ -21381,14 +21401,14 @@ http://identifiers.org/hgnc/21246 "PNPLA1" 0 0 0 0 0 0 UBERON:0007798 "vascular system" 0 0 0 0 0 0 http://identifiers.org/hgnc/2950 "DNAH5" 0 0 0 0 0 0 MONDO:0005945 "rhinoscleroma" 1 6 0 0 0 1 -MONDO:0005738 "echinococcosis" 1 10 0 0 0 1 +MONDO:0005738 "echinococcosis" 1 8 0 0 0 1 NCBITaxon:2732007 "Nucleocytoviricota" 0 1 0 0 0 0 CL:0019019 "tracheobronchial smooth muscle cell"@en 1 0 0 0 0 1 MONDO:0011627 "autism, susceptibility to, 5" 0 2 0 0 0 0 MONDO:0000338 "variola major infectious disease" 0 4 0 0 0 1 UBERON:0001794 "inner limiting layer of retina" 0 0 0 0 0 0 http://identifiers.org/hgnc/1440 "CALCR" 0 0 0 0 0 0 -MONDO:0005983 "tinea favosa" 1 7 0 0 0 0 +MONDO:0005983 "tinea favosa" 1 6 0 0 0 0 GO:1900402 "obsolete regulation of carbohydrate metabolic process by regulation of transcription from RNA polymerase II promoter" 1 0 0 0 0 0 MONDO:0009107 "diastrophic dysplasia" 1 8 0 0 0 0 GO:1901228 "positive regulation of transcription from RNA polymerase II promoter involved in heart development" 1 0 0 0 0 1 @@ -21427,7 +21447,7 @@ UBERON:0014451 "tongue taste bud" 0 0 0 0 0 1 CL:0000214 "synovial cell" 1 3 0 0 0 1 MONDO:0003910 "mixed cell uveal melanoma" 1 4 0 0 0 0 MONDO:0006055 "sex cord-stromal tumor" 1 7 0 0 0 1 -MONDO:0015394 "nasal encephalocele" 1 3 0 0 0 0 +MONDO:0015394 "nasal encephalocele" 1 2 0 0 0 0 UBERON:0004178 "aorta smooth muscle tissue" 0 0 0 0 0 1 MONDO:0012248 "autosomal recessive limb-girdle muscular dystrophy type 2K" 1 8 0 0 0 1 MONDO:0018358 "neonatal autoimmune hemolytic anemia" 0 2 0 0 0 0 @@ -21442,7 +21462,7 @@ CHR:9606-chrXp22 "Xp22 (Human)" 0 0 0 0 0 0 MONDO:0010833 "Hirschsprung disease, susceptibility to, 2" 1 3 0 0 0 1 UBERON:0002133 "atrioventricular valve" 0 0 0 0 0 0 MONDO:0004419 "lymphoma-like variant infiltrating bladder urothelial carcinoma" 0 3 0 0 0 0 -MONDO:0005201 "restrictive cardiomyopathy" 1 15 0 0 0 0 +MONDO:0005201 "restrictive cardiomyopathy" 1 14 0 0 0 0 http://identifiers.org/hgnc/21528 "DIABLO" 0 0 0 0 0 0 MONDO:0014663 "Silver-Russell syndrome 3" 0 2 0 0 0 0 PATO:0000146 "temperature" 1 0 0 0 0 0 @@ -21485,16 +21505,16 @@ MONDO:0010831 "familial caudal dysgenesis" 1 11 0 0 0 0 MONDO:0017767 "rheumatic fever" 1 19 0 0 0 0 MONDO:0005167 "fibroma" 1 7 0 0 0 0 HP:0012210 "Abnormal renal morphology" 1 3 0 0 0 0 -MONDO:0000088 "precocious puberty" 1 13 0 0 0 0 +MONDO:0000088 "precocious puberty" 1 12 0 0 0 0 MONDO:0020394 "tunnel subaortic stenosis" 0 2 0 0 0 0 http://identifiers.org/hgnc/12874 "ZIC3" 0 0 0 0 0 0 UBERON:0001134 "skeletal muscle tissue" 0 0 0 0 0 1 http://identifiers.org/hgnc/12873 "ZIC2" 0 0 0 0 0 0 -MONDO:0016461 "5q35 microduplication syndrome" 1 5 0 0 0 1 +MONDO:0016461 "5q35 microduplication syndrome" 1 4 0 0 0 1 MONDO:0007538 "amelogenesis imperfecta, type 3A" 1 7 0 0 0 1 http://identifiers.org/hgnc/341 "AGXT" 0 0 0 0 0 0 -MONDO:0011033 "type 1 diabetes mellitus 13" 1 5 0 0 0 0 -MONDO:0001850 "female breast lower-outer quadrant cancer" 0 5 0 0 0 0 +MONDO:0011033 "type 1 diabetes mellitus 13" 1 4 0 0 0 0 +MONDO:0001850 "female breast lower-outer quadrant cancer" 0 4 0 0 0 0 MONDO:0016379 "erosive pustular dermatosis of the scalp" 1 4 0 0 0 0 MONDO:0006890 "parathyroid gland adenoma" 1 7 0 0 0 1 CHEBI:36735 "biladienes" 1 0 0 0 0 0 @@ -21526,13 +21546,13 @@ GO:1900118 "negative regulation of execution phase of apoptosis" 1 0 0 0 0 1 MONDO:0017597 "T-cell/histiocyte rich large B cell lymphoma" 1 8 0 0 0 0 MONDO:0016883 "partial deletion of the short arm of chromosome 1" 1 6 0 0 0 1 MONDO:0016885 "partial deletion of the short arm of chromosome 3" 0 2 0 0 0 1 -MONDO:0016887 "partial deletion of the short arm of chromosome 5" 0 3 0 0 0 1 +MONDO:0016887 "partial deletion of the short arm of chromosome 5" 0 2 0 0 0 1 MONDO:0016889 "partial deletion of the short arm of chromosome 7" 1 3 0 0 0 1 MONDO:0001651 "scrotum squamous cell carcinoma" 1 4 0 0 0 1 MONDO:0016884 "partial deletion of the short arm of chromosome 2" 0 2 0 0 0 1 MONDO:0016888 "partial deletion of the short arm of chromosome 6" 0 2 0 0 0 1 MONDO:0015268 "medullary sponge kidney" 1 10 0 0 0 0 -MONDO:0005555 "cycloplegia" 1 10 0 0 0 0 +MONDO:0005555 "cycloplegia" 1 6 0 0 0 0 http://identifiers.org/hgnc/4283 "GJB1" 0 0 0 0 0 0 CL:0002608 "hippocampal neuron" 1 0 0 0 0 1 MONDO:0007475 "duodenal ulcer, hyperpepsinogenemic 1" 0 3 0 0 0 0 @@ -21559,9 +21579,9 @@ MONDO:0005775 "G6PD deficiency" 1 6 0 0 0 1 MONDO:0018634 "hereditary amyloidosis" 1 6 0 0 0 1 UBERON:0003236 "epithelium of lower jaw" 0 0 0 0 0 1 UBERON:0014703 "anal membrane ectodermal component" 0 0 0 0 0 1 -MONDO:0014829 "immunodeficiency-centromeric instability-facial anomalies syndrome 4" 1 4 0 0 0 1 +MONDO:0014829 "immunodeficiency-centromeric instability-facial anomalies syndrome 4" 1 3 0 0 0 1 UBERON:0014783 "cloacal muscle" 0 0 0 0 0 1 -MONDO:0014828 "immunodeficiency-centromeric instability-facial anomalies syndrome 3" 1 4 0 0 0 1 +MONDO:0014828 "immunodeficiency-centromeric instability-facial anomalies syndrome 3" 1 3 0 0 0 1 UBERON:0007100 "primary circulatory organ" 0 0 0 0 0 1 GO:0060589 "nucleoside-triphosphatase regulator activity" 1 0 0 0 0 1 HP:0008873 "Disproportionate short-limb short stature" 1 1 0 0 0 0 @@ -21595,7 +21615,7 @@ MONDO:0003532 "breast papillary carcinoma" 1 4 0 0 0 1 http://identifiers.org/hgnc/19412 "ZMYND10" 0 0 0 0 0 0 MONDO:0005459 "human African trypanosomiasis" 1 16 0 0 0 0 NCIT:C12378 "Digestive System" 0 1 0 0 0 0 -MONDO:0012654 "atrial septal defect 4" 1 6 0 0 0 1 +MONDO:0012654 "atrial septal defect 4" 1 5 0 0 0 1 MONDO:0020200 "obsolete conjunctival hemangioma or hemolymphangioma" 0 1 0 0 0 0 UBERON:0005199 "cervical mammary gland" 0 0 0 0 0 1 ENVO:01000676 "contaminated air"@en 1 0 0 0 0 1 @@ -21654,15 +21674,15 @@ MONDO:0007677 "hyperglycinuria" 0 4 0 0 0 0 http://identifiers.org/hgnc/5383 "IDH2" 0 0 0 0 0 0 MONDO:0017733 "alpha-mannosidosis, adult form" 0 5 0 0 0 0 http://identifiers.org/hgnc/5382 "IDH1" 0 0 0 0 0 0 -MONDO:0018668 "scedosporiosis" 0 2 0 0 0 0 +MONDO:0018668 "scedosporiosis" 0 1 0 0 0 0 HP:0002795 "Abnormal respiratory system physiology" 0 2 0 0 0 0 MONDO:0006944 "renal aminoaciduria" 1 4 0 0 0 0 MONDO:0012464 "cone-rod dystrophy 10" 1 5 0 0 0 1 MAXO:0000014 "radiation therapy"@en 1 0 0 0 0 0 MONDO:0015403 "non-involuting congenital hemangioma" 1 5 0 0 0 0 -MONDO:0005993 "Trichomonas vaginitis urogenital infection" 1 9 0 0 0 1 +MONDO:0005993 "Trichomonas vaginitis urogenital infection" 1 8 0 0 0 1 MONDO:0019460 "acute leukemia of ambiguous lineage" 1 10 0 0 0 0 -MONDO:0013978 "autosomal recessive nonsyndromic hearing loss 70" 1 4 0 0 0 1 +MONDO:0013978 "autosomal recessive nonsyndromic hearing loss 70" 1 3 0 0 0 1 MONDO:0007592 "familial recurrent peripheral facial palsy" 0 5 0 0 0 0 ENVO:00000194 "scree" 1 0 0 0 0 1 MONDO:0002292 "obsolete granular cell tumor" 0 0 0 0 0 0 @@ -21724,12 +21744,12 @@ MONDO:0013670 "myopia, high, with cataract and vitreoretinal degeneration" 0 3 0 MONDO:0019262 "juvenile neuronal ceroid lipofuscinosis" 1 11 0 0 0 1 UBERON:0009633 "root of sacral nerve" 0 0 0 0 0 1 GO:0042613 "MHC class II protein complex" 1 0 0 0 0 0 -MONDO:0016122 "periodic paralysis" 0 6 0 0 0 0 +MONDO:0016122 "periodic paralysis" 0 5 0 0 0 0 UBERON:0003832 "esophagus muscle" 0 0 0 0 0 1 MONDO:0006010 "salmonid viral hemorrhagic septicemia" 1 3 0 0 0 0 NCBITaxon:83136 "Trombidiformes" 0 1 0 0 0 0 UBERON:0006757 "lateral lingual swelling" 0 0 0 0 0 0 -MONDO:0019887 "distal trisomy 16q" 1 3 0 0 0 0 +MONDO:0019887 "distal trisomy 16q" 1 2 0 0 0 0 MONDO:0007504 "thickened earlobes-conductive deafness syndrome" 1 5 0 0 0 0 MONDO:0020597 "angiokeratoma of scrotum" 1 2 0 0 0 1 MONDO:0700087 "Usher syndrome type 1B" 1 2 0 0 0 1 @@ -21737,7 +21757,7 @@ MONDO:0017677 "focal acral hyperkeratosis" 0 4 0 0 0 0 MONDO:0018288 "obsolete congenital disorder of glycosylation with hepatic involvement" 0 2 0 0 0 0 NCBITaxon:6032 "Apansporoblastina" 0 1 0 0 0 0 GO:0019853 "L-ascorbic acid biosynthetic process" 1 0 0 0 0 0 -MONDO:0014808 "congenital secretory sodium diarrhea 8" 1 5 0 0 0 1 +MONDO:0014808 "congenital secretory sodium diarrhea 8" 1 4 0 0 0 1 MONDO:0019058 "neurometabolic disease" 0 2 0 0 0 0 MONDO:0015542 "secondary hemophagocytic lymphohistiocytosis" 1 5 0 0 0 1 MONDO:0007842 "Ehlers-Danlos syndrome type 11" 1 7 0 0 0 0 @@ -21764,7 +21784,7 @@ NCBITaxon:6182 "Schistosoma japonicum" 0 1 0 0 0 0 UBERON:0010707 "appendage girdle complex" 0 0 0 0 0 0 MONDO:0006767 "gastric antral vascular ectasia" 1 7 0 0 0 0 MONDO:0012233 "Li-Fraumeni syndrome 2" 1 5 0 0 0 1 -MONDO:0005084 "mental disorder" 1 11 0 0 0 1 +MONDO:0005084 "mental disorder" 1 13 0 0 0 1 MONDO:0004238 "petrous apex meningioma" 1 3 0 0 0 0 MONDO:0007061 "acylase, cobalt-activated" 0 1 0 0 0 0 MONDO:0001516 "spinal muscular atrophy" 1 11 0 0 0 0 @@ -21796,14 +21816,14 @@ MONDO:0043905 "pneumonitis" 1 2 0 0 0 1 PATO:0000389 "acute" 1 0 0 0 0 0 MONDO:0009228 "gingival fibromatosis-facial dysmorphism syndrome" 1 6 0 0 0 0 MONDO:0009192 "Wolcott-Rallison syndrome" 1 9 0 0 0 0 -MONDO:0014461 "hypogonadotropic hypogonadism 22 with or without anosmia" 1 5 0 0 0 1 +MONDO:0014461 "hypogonadotropic hypogonadism 22 with or without anosmia" 1 4 0 0 0 1 MONDO:0002388 "intracystic papillary adenoma" 1 4 0 0 0 0 UBERON:1000004 "collection of hair on external ear" 0 0 0 0 0 1 http://identifiers.org/hgnc/20278 "NUBPL" 0 0 0 0 0 0 MONDO:0006336 "ovarian endometrioid adenocarcinoma with squamous differentiation" 1 2 0 0 0 0 MONDO:0007926 "obsolete Waldenstrom macroglobulinemia" 0 0 0 0 0 0 MONDO:0009088 "deafness, neural, with atypical atopic dermatitis" 0 3 0 0 0 0 -MONDO:0044746 "zoonotic bacterial infection" 1 2 0 0 0 1 +MONDO:0044746 "zoonotic bacterial infection" 1 3 0 0 0 1 UBERON:0003483 "thymus lymphoid tissue" 0 0 0 0 0 1 MONDO:0019504 "superior limbic keratoconjunctivitis" 1 6 0 0 0 0 MONDO:0011470 "hyperlipidemia, combined, 2" 0 3 0 0 0 0 @@ -21818,13 +21838,13 @@ MONDO:0013172 "polymicrogyria with optic nerve hypoplasia" 1 4 0 0 0 0 MONDO:0004105 "childhood epithelioid sarcoma" 1 3 0 0 0 1 MONDO:0013891 "amyotrophic lateral sclerosis type 18" 1 4 0 0 0 1 GO:0042827 "platelet dense granule" 1 0 0 0 0 0 -MONDO:0005178 "osteoarthritis" 1 16 0 0 0 0 +MONDO:0005178 "osteoarthritis" 1 17 0 0 0 0 UBERON:0012351 "urachal lumen" 0 0 0 0 0 1 MONDO:0020665 "high grade malignant neoplasm" 0 1 0 0 0 1 MONDO:0022850 "obsolete congenital sucrose isomaltose malabsorption" 0 0 0 0 0 0 CL:1001572 "colon endothelial cell" 1 1 0 0 0 1 UBERON:0003543 "left lung respiratory bronchiole" 0 0 0 0 0 1 -MONDO:0009528 "chylomicron retention disease" 1 9 0 0 0 0 +MONDO:0009528 "chylomicron retention disease" 1 8 0 0 0 0 MONDO:0019197 "folinic acid-responsive seizures" 1 4 0 0 0 0 FOODON:00002381 "food product by organism"@en 1 0 0 0 0 0 UBERON:0008196 "muscle of pectoral girdle" 0 0 0 0 0 1 @@ -21832,7 +21852,7 @@ MONDO:0019364 "pseudotyphus of California" 1 3 0 0 0 1 GO:0002711 "positive regulation of T cell mediated immunity" 1 0 0 0 0 1 MONDO:0012423 "MORM syndrome" 1 6 0 0 0 0 GO:0004565 "beta-galactosidase activity" 1 0 0 0 0 0 -MONDO:0012723 "Leber congenital amaurosis 10" 1 5 0 0 0 1 +MONDO:0012723 "Leber congenital amaurosis 10" 1 4 0 0 0 1 MONDO:0004224 "chronic metabolic polyneuropathy" 0 3 0 0 0 0 UBERON:0000084 "ureteric bud" 0 0 0 0 0 0 MONDO:0017257 "idiopathic posterior uveitis" 1 2 0 0 0 0 @@ -21851,7 +21871,7 @@ GO:0042304 "regulation of fatty acid biosynthetic process" 1 0 0 0 0 1 UBERON:0000331 "ileal mucosa" 0 0 0 0 0 1 MONDO:0016936 "partial trisomy/tetrasomy of chromosome 18" 1 1 0 0 0 1 http://identifiers.org/hgnc/25662 "AAGAB" 0 0 0 0 0 0 -MONDO:0010602 "hemophilia A" 1 14 0 0 0 0 +MONDO:0010602 "hemophilia A" 1 13 0 0 0 0 GO:0030595 "leukocyte chemotaxis" 1 0 0 0 0 0 HP:0100033 "Tics" 1 1 0 0 0 0 UBERON:0011767 "right recurrent laryngeal nerve" 0 0 0 0 0 1 @@ -21865,23 +21885,24 @@ MONDO:0019437 "enthesitis-related juvenile idiopathic arthritis" 1 5 0 0 0 0 MONDO:0001157 "dependent personality disorder" 1 6 0 0 0 0 ENVO:00002297 "obsolete environmental feature" 1 0 0 0 0 0 UBERON:0004253 "skin muscle" 0 0 0 0 0 1 +MONDO:0007645 "obsolete gastric sneezing" 0 3 0 0 0 0 MONDO:0010510 "intellectual disability, X-linked 105" 1 2 0 0 0 1 MONDO:0000526 "obsolete appendix carcinoid tumor" 1 0 0 0 0 0 MONDO:0019860 "thyroid hemiagenesis" 1 5 0 0 0 0 HP:0007707 "Congenital aphakia" 1 2 0 0 0 0 http://identifiers.org/hgnc/17185 "ASB10" 0 0 0 0 0 0 -MONDO:0010604 "hemophilia B" 1 12 0 0 0 0 +MONDO:0010604 "hemophilia B" 1 11 0 0 0 0 CL:0000219 "motile cell" 1 0 0 0 0 1 MONDO:0044627 "acute macular neuroretinopathy" 0 1 0 0 0 0 MONDO:0003977 "obsolete fibrillary astrocytoma" 0 0 0 0 0 0 HP:0040077 "obsolete Abnormal concentration of calcium in blood" 0 0 0 0 0 0 -MONDO:0014001 "Usher syndrome type 1K" 1 6 0 0 0 0 +MONDO:0014001 "Usher syndrome type 1K" 1 5 0 0 0 0 UBERON:0001871 "temporal lobe" 0 0 0 0 0 0 UBERON:0019263 "gray matter of hindbrain" 0 0 0 0 0 1 http://identifiers.org/hgnc/32550 "ZBTB42" 0 0 0 0 0 0 MONDO:0006422 "small intestinal tubulovillous adenoma" 1 3 0 0 0 1 MONDO:0001461 "tinea corporis" 1 6 0 0 0 0 -MONDO:0002102 "cheilitis" 1 7 0 0 0 1 +MONDO:0002102 "cheilitis" 1 6 0 0 0 1 MONDO:0006447 "testicular non-seminomatous germ cell tumor" 1 9 0 0 0 0 UBERON:0001640 "celiac artery" 0 0 0 0 0 0 MONDO:0017176 "Machado-Joseph disease type 3" 1 3 0 0 0 0 @@ -21896,7 +21917,7 @@ MONDO:0022578 "childhood bladder carcinoma" 1 3 0 0 0 0 MONDO:0011129 "glaucoma type 1C" 0 3 0 0 0 0 CL:0002503 "adventitial cell" 1 2 0 0 0 1 MONDO:0018447 "chondromyxoid fibroma" 1 6 0 0 0 0 -MONDO:0015459 "nasopharyngeal carcinoma" 1 36 0 0 0 1 +MONDO:0015459 "nasopharyngeal carcinoma" 1 34 0 0 0 1 MONDO:0026726 "nephrotic syndrome, type 20" 0 2 0 0 0 0 MONDO:0009278 "obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" 0 0 0 0 0 0 MONDO:0006461 "obsolete thyroid gland carcinoma" 0 0 0 0 0 0 @@ -21917,10 +21938,10 @@ MONDO:0008416 "palmoplantar keratoderma-sclerodactyly syndrome" 0 7 0 0 0 0 CL:0000625 "CD8-positive, alpha-beta T cell" 1 0 0 0 0 0 UBERON:0003848 "gonadal vein" 0 0 0 0 0 1 MONDO:0043771 "radiodermatitis" 1 4 0 0 0 1 -MONDO:0012968 "Usher syndrome type 1H" 1 7 0 0 0 0 +MONDO:0012968 "Usher syndrome type 1H" 1 6 0 0 0 0 MONDO:0006734 "benign duodenal neoplasm" 1 8 0 0 0 1 MONDO:0021937 "obsolete Asrar Facharzt Haque syndrome" 0 0 0 0 0 0 -MONDO:0011390 "focal segmental glomerulosclerosis 2" 1 5 0 0 0 1 +MONDO:0011390 "focal segmental glomerulosclerosis 2" 1 4 0 0 0 1 GO:0014057 "positive regulation of acetylcholine secretion, neurotransmission" 1 0 0 0 0 1 http://identifiers.org/hgnc/5218 "HSD3B2" 0 0 0 0 0 0 MONDO:0004623 "obsolete prostate carcinoma in situ" 0 0 0 0 0 0 @@ -21949,16 +21970,16 @@ MONDO:0016706 "chordoid glioma of the third ventricle" 1 10 0 0 0 0 http://identifiers.org/hgnc/7745 "NEK2" 0 0 0 0 0 0 MONDO:0018489 "autoimmune encephalopathy with parasomnia and obstructive sleep apnea" 1 4 0 0 0 1 MONDO:0011622 "nephrolithiasis, uric acid, susceptibility to" 0 1 0 0 0 0 -MONDO:0100062 "developmental and epileptic encephalopathy" 1 29 0 0 0 0 +MONDO:0100062 "developmental and epileptic encephalopathy" 1 28 0 0 0 0 MONDO:0010485 "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome" 1 4 0 0 0 0 MONDO:0001617 "transient global amnesia" 1 7 0 0 0 0 http://identifiers.org/hgnc/1665 "SCARB2" 0 0 0 0 0 0 -MONDO:0024664 "hypertension, pregnancy-induced" 1 3 0 0 0 1 +MONDO:0024664 "hypertension, pregnancy-induced" 1 4 0 0 0 1 MONDO:0003519 "malignant syringoma" 1 6 0 0 0 1 MONDO:0017174 "Machado-Joseph disease type 1" 1 3 0 0 0 0 MONDO:0020440 "persistent left superior vena cava connecting to the left-sided atrium" 1 2 0 0 0 0 MONDO:0003452 "cochlear disorder" 1 3 0 0 0 1 -MONDO:0014796 "autosomal recessive early-onset Parkinson disease 23" 1 4 0 0 0 1 +MONDO:0014796 "autosomal recessive early-onset Parkinson disease 23" 1 3 0 0 0 1 UBERON:0005837 "fasciculus of spinal cord" 0 0 0 0 0 1 http://identifiers.org/hgnc/9910 "RBMX" 0 0 0 0 0 0 MONDO:0013592 "nonsyndromic congenital nail disorder 9" 0 7 0 0 0 0 @@ -21969,7 +21990,7 @@ MONDO:0004455 "classic congenital mesoblastic nephroma" 1 3 0 0 0 0 CL:0000906 "activated CD8-positive, alpha-beta T cell" 1 0 0 0 0 0 UBERON:0008784 "lower limb segment" 0 0 0 0 0 1 MONDO:0019304 "obsolete rare photodermatosis" 0 2 0 0 0 0 -MONDO:0017866 "subpulmonary stenosis" 0 5 0 0 0 0 +MONDO:0017866 "subpulmonary stenosis" 0 4 0 0 0 0 NCIT:C125581 "Pathology Result" 0 0 0 0 0 0 MONDO:0017175 "Machado-Joseph disease type 2" 1 3 0 0 0 0 MONDO:0008222 "Andersen-Tawil syndrome" 1 10 0 0 0 0 @@ -21977,7 +21998,7 @@ http://identifiers.org/hgnc/2954 "DNAI1" 0 0 0 0 0 0 http://identifiers.org/hgnc/4539 "GPR88" 0 0 0 0 0 0 MONDO:0007908 "multiple symmetric lipomatosis" 1 11 0 0 0 0 http://identifiers.org/hgnc/11771 "TGFBI" 0 0 0 0 0 0 -MONDO:0000741 "angular cheilitis" 1 9 0 0 0 1 +MONDO:0000741 "angular cheilitis" 1 8 0 0 0 1 MONDO:0007102 "amyotrophic dystonic paraplegia" 0 3 0 0 0 0 MONDO:0043280 "Wallerian degeneration" 1 3 0 0 0 0 MONDO:0001487 "intrahepatic bile duct cancer" 1 4 0 0 0 1 @@ -22006,7 +22027,7 @@ CHEBI:63299 "carbohydrate derivative" 1 0 0 0 0 0 UBERON:0002030 "nipple" 0 0 0 0 0 0 UBERON:0005636 "caecum epithelium" 0 0 0 0 0 1 UBERON:0003929 "digestive tract epithelium" 0 0 0 0 0 1 -MONDO:0007915 "systemic lupus erythematosus" 1 31 0 0 0 0 +MONDO:0007915 "systemic lupus erythematosus" 1 26 0 0 0 0 MONDO:0009674 "muscular dystrophy, adult-onset, with leukoencephalopathy" 0 3 0 0 0 0 NCBITaxon:715962 "dothideomyceta" 0 1 0 0 0 0 UBERON:0012487 "vaginal sphincter" 0 0 0 0 0 1 @@ -22058,7 +22079,7 @@ GO:0006555 "methionine metabolic process" 1 0 0 0 0 0 MONDO:0005056 "keratinizing squamous cell carcinoma" 1 5 0 0 0 0 CHR:9606-chr20p12.3 "20p12.3 (Human)" 0 0 0 0 0 0 UBERON:0001188 "right testicular artery" 0 0 0 0 0 1 -MONDO:0012919 "type 1 diabetes mellitus 20" 1 5 0 0 0 1 +MONDO:0012919 "type 1 diabetes mellitus 20" 1 4 0 0 0 1 UBERON:0004408 "distal epiphysis of ulna" 0 0 0 0 0 1 GO:0006518 "peptide metabolic process" 1 0 0 0 0 0 MONDO:0003649 "esophageal neuroendocrine tumor" 1 5 0 0 0 1 @@ -22068,12 +22089,12 @@ MONDO:0020815 "dentigerous cyst" 1 3 0 0 0 0 NCBITaxon:6286 "Dirofilaria" 0 1 0 0 0 0 GO:0140242 "translation at postsynapse" 1 0 0 0 0 1 MONDO:0009808 "osteoid osteoma" 1 7 0 0 0 0 -MONDO:0008803 "Antley-Bixler syndrome" 1 6 0 0 0 0 +MONDO:0008803 "Antley-Bixler syndrome" 1 7 0 0 0 0 MONDO:0007013 "vasculogenic impotence" 1 4 0 0 0 0 GO:0048754 "branching morphogenesis of an epithelial tube" 1 0 0 0 0 0 MONDO:0002066 "breast adenomyoepithelioma" 1 5 0 0 0 0 UBERON:0003496 "head blood vessel" 0 0 0 0 0 1 -MONDO:0018480 "carcinoma of esophagus, salivary gland type" 0 9 0 0 0 0 +MONDO:0018480 "carcinoma of esophagus, salivary gland type" 0 2 0 0 0 0 GO:0008289 "lipid binding" 1 0 0 0 0 0 MONDO:0015837 "Unicervical bicornuate uterus" 0 2 0 0 0 0 MONDO:0004988 "breast adenocarcinoma" 1 3 0 0 0 1 @@ -22089,12 +22110,12 @@ MONDO:0020846 "intellectual disability, autosomal recessive 64" 0 1 0 0 0 0 UBERON:0001115 "left lobe of liver" 0 0 0 0 0 0 UBERON:0004160 "proepicardium" 0 0 0 0 0 0 MONDO:0036491 "obsolete rare childhood malignant neoplasm" 1 2 0 0 0 0 -MONDO:0017864 "congenital pulmonary veins atresia or stenosis" 1 5 0 0 0 0 +MONDO:0017864 "congenital pulmonary veins atresia or stenosis" 1 4 0 0 0 0 MONDO:0002090 "eccrine sweat gland neoplasm" 1 3 0 0 0 1 UBERON:0002392 "nasolacrimal duct" 0 0 0 0 0 0 HP:0001289 "Confusion" 1 3 0 0 0 0 UBERON:0011817 "skin appendage placode" 0 0 0 0 0 1 -MONDO:0010826 "childhood absence epilepsy" 1 11 0 0 0 0 +MONDO:0010826 "childhood absence epilepsy" 1 10 0 0 0 0 http://identifiers.org/hgnc/5351 "ICOS" 0 0 0 0 0 0 MONDO:0009074 "facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome" 1 5 0 0 0 0 GO:0045664 "regulation of neuron differentiation" 1 0 0 0 0 1 @@ -22102,7 +22123,7 @@ MONDO:0000005 "alopecia, isolated" 0 1 0 0 0 0 GO:0001838 "embryonic epithelial tube formation" 1 0 0 0 0 0 MONDO:0017945 "ABetaL34V amyloidosis" 1 4 0 0 0 0 http://identifiers.org/hgnc/2204 "COL4A3" 0 0 0 0 0 0 -MONDO:0000909 "Bartter disease type 4B" 1 6 0 0 0 0 +MONDO:0000909 "Bartter disease type 4B" 1 5 0 0 0 0 GO:0002757 "immune response-activating signal transduction" 1 0 0 0 0 0 GO:1900120 "regulation of receptor binding" 1 0 0 0 0 1 MONDO:0018403 "obsolete female infertility due to an implantation defect" 0 2 0 0 0 0 @@ -22121,7 +22142,6 @@ http://identifiers.org/hgnc/11365 "STAT4" 0 0 0 0 0 0 HP:0000737 "Irritability" 1 1 0 0 0 0 MONDO:0011193 "cone dystrophy 3" 1 5 0 0 0 1 MONDO:0010475 "X-linked central congenital hypothyroidism with late-onset testicular enlargement" 1 6 0 0 0 0 -MONDO:0007532 "Electroencephalographic peculiarity: occipital slow beta waves" 0 1 0 0 0 0 MONDO:0009695 "myeloproliferative disease, autosomal recessive" 0 3 0 0 0 0 http://identifiers.org/hgnc/9325 "PPT1" 0 0 0 0 0 0 MONDO:0100422 "acute myeloid leukemia, RUNX1 gene mutation" 1 2 0 0 0 0 @@ -22142,9 +22162,9 @@ MONDO:0008078 "neurofibromatosis, familial spinal" 0 5 0 0 0 0 MONDO:0003122 "striatonigral degeneration" 1 11 0 0 0 0 MONDO:0008990 "cleft larynx, posterior" 0 5 0 0 0 0 GO:0001910 "regulation of leukocyte mediated cytotoxicity" 1 0 0 0 0 1 -MONDO:0009092 "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly" 1 9 0 0 0 0 -MONDO:0300000 "SSR3-CDG" 1 1 0 0 0 0 -MONDO:0004638 "lymphosarcoma" 1 16 0 0 0 0 +MONDO:0009092 "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly" 1 10 0 0 0 0 +MONDO:0300000 "SSR3-CDG" 1 0 0 0 0 0 +MONDO:0004638 "lymphosarcoma" 1 14 0 0 0 0 CHEBI:38164 "organic heteropentacyclic compound" 0 0 0 0 0 0 MONDO:0015303 "macular amyloidosis" 1 4 0 0 0 0 UBERON:0001190 "ovarian artery" 0 0 0 0 0 1 @@ -22158,8 +22178,8 @@ GO:0098916 "anterograde trans-synaptic signaling" 1 0 0 0 0 0 MONDO:0008673 "acrofacial dysostosis, Weyers type" 1 9 0 0 0 0 MONDO:0014781 "combined oxidative phosphorylation deficiency 29" 1 3 0 0 0 1 MONDO:0002262 "capillary lymphangioma" 1 4 0 0 0 1 -MONDO:0001108 "broad ligament malignant neoplasm" 1 5 0 0 0 1 -MONDO:0006700 "choroid cancer" 1 9 0 0 0 1 +MONDO:0001108 "broad ligament malignant neoplasm" 1 4 0 0 0 1 +MONDO:0006700 "choroid cancer" 1 8 0 0 0 1 MONDO:0017691 "erythrocyte galactose epimerase deficiency" 0 4 0 0 0 0 MONDO:0017571 "Proteus-like syndrome" 1 6 0 0 0 0 UBERON:0001176 "right hepatic duct" 0 0 0 0 0 1 @@ -22170,7 +22190,7 @@ http://identifiers.org/hgnc/9912 "RBMY1A1" 0 0 0 0 0 0 GO:0008240 "tripeptidyl-peptidase activity" 1 0 0 0 0 0 CHEBI:24836 "inorganic oxide" 0 0 0 0 0 0 UBERON:0004490 "cardiac muscle tissue of atrium" 0 0 0 0 0 1 -MONDO:0018381 "osteochondrosis" 1 12 0 0 0 0 +MONDO:0018381 "osteochondrosis" 1 11 0 0 0 0 MONDO:0030996 "bleeding disorder, platelet-type, 24" 0 1 0 0 0 0 MONDO:0032932 "mitochondrial DNA depletion syndrome 18" 0 1 0 0 0 0 MONDO:0009566 "marfanoid habitus-autosomal recessive intellectual disability syndrome" 1 6 0 0 0 0 @@ -22178,7 +22198,7 @@ MONDO:0013846 "peripartum cardiomyopathy, susceptibility to" 0 1 0 0 0 0 MONDO:0032799 "mitochondrial DNA depletion syndrome 16 (hepatic type)" 0 1 0 0 0 0 MONDO:0006370 "obsolete pineoblastoma" 0 0 0 0 0 0 http://identifiers.org/hgnc/2972 "DNM1" 0 0 0 0 0 0 -MONDO:0004648 "vascular dementia" 1 12 0 0 0 0 +MONDO:0004648 "vascular dementia" 1 10 0 0 0 0 MONDO:0014246 "episodic pain syndrome, familial, 2" 1 4 0 0 0 1 MONDO:0032910 "mitochondrial complex 1 deficiency, nuclear type 34" 0 1 0 0 0 1 MONDO:0001839 "obsolete interstitial cystitis" 0 0 0 0 0 0 @@ -22217,7 +22237,7 @@ MONDO:0015366 "autosomal recessive hereditary sensory and autonomic neuropathy" MONDO:0016415 "obsolete immunodeficiency-centromeric instability-facial anomalies syndrome" 0 0 0 0 0 0 NCBITaxon:2732532 "Sepolyvirales" 0 1 0 0 0 0 NCBITaxon:8030 "Salmo salar" 0 1 0 0 0 0 -MONDO:0011428 "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3" 1 6 0 0 0 1 +MONDO:0011428 "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3" 1 5 0 0 0 1 MONDO:0003322 "epithelial predominant Wilms' tumor" 1 3 0 0 0 0 http://identifiers.org/hgnc/286 "ADRB2" 0 0 0 0 0 0 MONDO:0011604 "spondylo-ocular syndrome" 1 4 0 0 0 0 @@ -22234,10 +22254,11 @@ UBERON:0022284 "lacrimal gland bud" 0 0 0 0 0 0 MONDO:0009169 "endocardial fibroelastosis" 1 12 0 0 0 0 CHR:9606-chr11p1 "11p1 (Human)" 0 0 0 0 0 0 CL:0001030 "CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor" 0 0 0 0 0 1 +MONDO:0018983 "Tolosa-Hunt syndrome" 1 11 0 0 0 0 MONDO:0020441 "right superior vena cava connecting to left-sided atrium" 1 2 0 0 0 0 UBERON:0011004 "pharyngeal arch cartilage" 0 0 0 0 0 1 MONDO:0008472 "spondyloepiphyseal dysplasia, MacDermot type" 1 5 0 0 0 0 -MONDO:0007152 "arrhythmogenic right ventricular dysplasia 1" 1 7 0 0 0 1 +MONDO:0007152 "arrhythmogenic right ventricular dysplasia 1" 1 5 0 0 0 1 MONDO:0024744 "childhood choroid plexus neoplasm" 1 1 0 0 0 1 MONDO:0019282 "syndromic hair shaft abnormality" 0 2 0 0 0 0 UBERON:0005089 "sweat gland placode" 0 0 0 0 0 1 @@ -22251,7 +22272,6 @@ MONDO:0016154 "qualitative or quantitative defects of myotubularin" 0 1 0 0 0 1 MONDO:0020118 "dense granule disease" 0 3 0 0 0 0 MONDO:0018779 "hypercontractile muscle stiffness syndrome" 0 2 0 0 0 0 CHEBI:50176 "keratolytic drug" 1 0 0 0 0 0 -MONDO:0020734 "erythrocyte AMP deaminase deficiency" 0 3 0 0 0 1 MONDO:0015791 "peripheral precocious puberty" 1 3 0 0 0 0 CL:0011012 "neural crest cell" 1 0 0 0 0 0 MONDO:0030519 "agammaglobulinemia 9, autosomal recessive" 0 1 0 0 0 0 @@ -22261,7 +22281,7 @@ HP:0011030 "Abnormal blood transition element cation concentration" 1 1 0 0 0 0 MONDO:0032812 "developmental and epileptic encephalopathy, 78" 0 1 0 0 0 0 http://identifiers.org/hgnc/3573 "FADD" 0 0 0 0 0 0 UBERON:0004183 "placental labyrinth blood vessel" 0 0 0 0 0 1 -MONDO:0013191 "focal segmental glomerulosclerosis 5" 1 5 0 0 0 1 +MONDO:0013191 "focal segmental glomerulosclerosis 5" 1 4 0 0 0 1 MONDO:0019777 "Carpenter-Waziri syndrome" 1 3 0 0 0 0 GO:0015874 "norepinephrine transport" 1 0 0 0 0 0 HP:0031899 "Abnormal coagulation factor V activity" 1 0 0 0 0 0 @@ -22273,12 +22293,12 @@ MONDO:0017564 "macrodactyly of fingers, unilateral" 0 2 0 0 0 0 UBERON:0008824 "duct of epididymis" 0 0 0 0 0 1 HP:0008496 "Multiple rows of eyelashes" 0 3 0 0 0 0 GO:0008219 "cell death" 1 0 0 0 0 0 -MONDO:0004994 "cardiomyopathy" 1 16 0 0 0 0 +MONDO:0004994 "cardiomyopathy" 1 14 0 0 0 0 MONDO:0007491 "dystelephalangy" 0 4 0 0 0 0 -MONDO:0009468 "pseudotumor cerebri" 1 12 0 0 0 0 +MONDO:0009468 "pseudotumor cerebri" 1 11 0 0 0 0 MONDO:0014342 "female infertility due to zona pellucida defect" 1 4 0 0 0 0 -MONDO:0001915 "orbital cyst" 0 6 0 0 0 0 -MONDO:0005509 "histiocytoma" 1 12 0 0 0 0 +MONDO:0001915 "orbital cyst" 0 5 0 0 0 0 +MONDO:0005509 "histiocytoma" 1 7 0 0 0 0 UBERON:0000395 "cochlear ganglion" 0 0 0 0 0 1 MONDO:0011406 "cholesteatoma, congenital" 0 3 0 0 0 0 MONDO:0012192 "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome" 1 4 0 0 0 0 @@ -22295,7 +22315,7 @@ MONDO:0010535 "Bazex-Dupre-Christol syndrome" 1 10 0 0 0 0 UBERON:0009210 "pharyngeal membrane" 0 0 0 0 0 0 MONDO:0024614 "neurotic depression" 1 1 0 0 0 0 http://identifiers.org/hgnc/7207 "MPDU1" 0 0 0 0 0 0 -MONDO:0006861 "myeloid sarcoma" 1 13 0 0 0 0 +MONDO:0006861 "myeloid sarcoma" 1 12 0 0 0 0 NCBITaxon:6199 "Cestoda" 0 1 0 0 0 0 MONDO:0014999 "tooth agenesis, selective, 9" 1 1 0 0 0 1 MONDO:0002404 "liver hemangioma" 1 4 0 0 0 1 @@ -22305,7 +22325,7 @@ MONDO:0002585 "breast fibrocystic change, proliferative type" 1 3 0 0 0 0 MONDO:0005505 "dysembryoplastic neuroepithelial tumor" 1 9 0 0 0 0 HP:0000164 "Abnormality of the dentition" 1 4 0 0 0 0 MONDO:0018502 "hereditary gastric cancer" 1 1 0 0 0 1 -MONDO:0018020 "mercury poisoning" 1 7 0 0 0 1 +MONDO:0018020 "mercury poisoning" 1 6 0 0 0 1 MONDO:0044747 "human anaplasmosis" 1 3 0 0 0 0 UBERON:0001650 "hypoglossal nerve" 0 0 0 0 0 1 http://identifiers.org/hgnc/4177 "GBA" 0 0 0 0 0 0 @@ -22313,20 +22333,20 @@ MONDO:0024746 "immature teratoma" 1 2 0 0 0 0 MONDO:0016338 "non-familial dilated cardiomyopathy" 0 2 0 0 0 0 MONDO:0001937 "obsolete LEOPARD syndrome" 0 0 0 0 0 0 MONDO:0032568 "intellectual developmental disorder with macrocephaly, seizures, and speech delay" 0 1 0 0 0 0 -MONDO:0004952 "Hodgkins lymphoma" 1 23 0 0 0 0 +MONDO:0004952 "Hodgkins lymphoma" 1 21 0 0 0 0 MONDO:0007705 "Heinz body anemia" 0 9 0 0 0 0 MONDO:0010649 "isolated congenital megalocornea" 1 5 0 0 0 0 MONDO:0007089 "Alzheimer disease 2" 1 8 0 0 0 0 MONDO:0006375 "placental hemangioma" 1 7 0 0 0 1 MONDO:0009773 "odonto-onycho-dermal dysplasia" 1 7 0 0 0 0 -MONDO:0003784 "nasal cavity carcinoma in situ" 1 6 0 0 0 1 +MONDO:0003784 "nasal cavity carcinoma in situ" 1 5 0 0 0 1 MONDO:0005606 "tubular adenocarcinoma" 1 6 0 0 0 0 http://identifiers.org/hgnc/23109 "FAT4" 0 0 0 0 0 0 MONDO:0019999 "intestinal malformation" 0 1 0 0 0 0 MONDO:0016385 "hypogonadism-mitral valve prolapse-intellectual disability syndrome" 1 6 0 0 0 0 CL:0002571 "hepatic mesenchymal stem cell" 1 0 0 0 0 1 MONDO:0000348 "obsolete posterior polar cataract" 0 1 0 0 0 0 -MONDO:0001810 "hypoglossal nerve disorder" 1 7 0 0 0 1 +MONDO:0001810 "hypoglossal nerve disorder" 1 6 0 0 0 1 MONDO:0017582 "pituitary adenocarcinoma" 1 9 0 0 0 1 http://identifiers.org/hgnc/7106 "ATXN3" 0 0 0 0 0 0 http://identifiers.org/hgnc/15868 "ABHD12" 0 0 0 0 0 0 @@ -22350,17 +22370,17 @@ MONDO:0011408 "hereditary spastic paraplegia 10" 1 9 0 0 0 1 MONDO:0043994 "acute cholecystitis" 1 3 0 0 0 0 MONDO:0011128 "Sheldon-hall syndrome" 1 6 0 0 0 0 GO:0071331 "cellular response to hexose stimulus" 1 0 0 0 0 0 -MONDO:0009424 "Bartter disease type 2" 1 8 0 0 0 1 +MONDO:0009424 "Bartter disease type 2" 1 7 0 0 0 1 CL:1000458 "melanocyte of skin" 1 2 0 0 0 1 MONDO:0024864 "medium/large size posterior uveal melanoma" 0 2 0 0 0 0 MONDO:0004067 "gallbladder mucinous adenocarcinoma" 1 3 0 0 0 1 MONDO:0017771 "Mayer-Rokitansky-Kuster-Hauser syndrome" 1 6 0 0 0 0 -MONDO:0006736 "dysplasia of cervix" 1 9 0 0 0 0 +MONDO:0006736 "dysplasia of cervix" 1 8 0 0 0 0 MONDO:0011197 "hereditary thermosensitive neuropathy" 1 6 0 0 0 0 CHEBI:17996 "chloride" 1 0 0 0 0 0 MONDO:0012562 "holoprosencephaly 7" 1 5 0 0 0 1 MONDO:0012309 "parietal foramina 2" 1 4 0 0 0 1 -MONDO:0014666 "hypomyelinating leukodystrophy 11" 1 5 0 0 0 1 +MONDO:0014666 "hypomyelinating leukodystrophy 11" 1 4 0 0 0 1 MONDO:0007217 "brachydactyly type A3" 0 6 0 0 0 0 MONDO:0100097 "congenital alveolar dysplasia due to TBX4" 1 0 0 0 0 1 MONDO:0019260 "adult neuronal ceroid lipofuscinosis" 1 13 0 0 0 1 @@ -22378,13 +22398,13 @@ MONDO:0018524 "obsolete intraductal papillary mucinous carcinoma of pancreas" 0 MONDO:0020236 "lens position anomaly" 1 4 0 0 0 0 MONDO:0000566 "obsolete substance withdrawal disorder" 0 0 0 0 0 0 NCBITaxon:1903411 "Yersiniaceae" 0 2 0 0 0 0 -MONDO:0020115 "secondary polycythemia" 1 5 0 0 0 0 +MONDO:0020115 "secondary polycythemia" 1 4 0 0 0 0 MONDO:0014733 "Charcot-Marie-Tooth disease type 4K" 1 6 0 0 0 1 HP:0040307 "Male sexual dysfunction" 1 0 0 0 0 0 MONDO:0012142 "orofacial cleft 5" 1 5 0 0 0 1 MONDO:0056797 "neurodevelopmental disorder with midbrain and hindbrain malformations" 0 3 0 0 0 0 MONDO:0001304 "benign hypertensive renal disease" 0 5 0 0 0 0 -MONDO:0010354 "Allan-Herndon-Dudley syndrome" 1 11 0 0 0 0 +MONDO:0010354 "Allan-Herndon-Dudley syndrome" 1 10 0 0 0 0 MONDO:0013394 "porencephaly-microcephaly-bilateral congenital cataract syndrome" 0 3 0 0 0 0 MONDO:0043459 "radiation-induced disorder" 1 5 0 0 0 1 http://identifiers.org/hgnc/13733 "CDH23" 0 0 0 0 0 0 @@ -22425,12 +22445,12 @@ MONDO:0010954 "Wiskott-Aldrich syndrome, autosomal dominant form" 0 4 0 0 0 0 MONDO:0100425 "acute myeloid leukemia, KRAS gene mutation" 1 1 0 0 0 0 HP:0000036 "Abnormal penis morphology" 1 1 0 0 0 0 MONDO:0018383 "osteonecrosis of genetic origin" 1 2 0 0 0 1 -MONDO:0015691 "hypereosinophilic syndrome" 1 13 0 0 0 1 +MONDO:0015691 "hypereosinophilic syndrome" 1 11 0 0 0 1 MONDO:0019554 "idiopathic localized lipodystrophy" 1 3 0 0 0 1 UBERON:0008870 "pulmonary alveolar parenchyma" 0 0 0 0 0 1 MONDO:0009964 "short-rib thoracic dysplasia 9 with or without polydactyly" 1 8 0 0 0 0 MONDO:0020403 "congenital mitral valve agenesis" 1 2 0 0 0 0 -MONDO:0001913 "oligospermia" 1 8 0 0 0 0 +MONDO:0001913 "oligospermia" 1 6 0 0 0 0 MONDO:0010192 "Waardenburg syndrome type 4A" 1 3 0 0 0 1 GO:0060048 "cardiac muscle contraction" 1 0 0 0 0 0 MONDO:0001450 "obsolete arachnoiditis" 0 0 0 0 0 0 @@ -22444,7 +22464,7 @@ MONDO:0012556 "DK1-CDG" 1 7 0 0 0 0 MONDO:0009077 "deafness, congenital, and familial myoclonic epilepsy" 0 3 0 0 0 0 MONDO:0012302 "parietal foramina 3" 0 4 0 0 0 0 UBERON:0003920 "venous blood vessel" 0 0 0 0 0 1 -MONDO:0019719 "congenital anomaly of kidney and urinary tract" 1 5 0 0 0 0 +MONDO:0019719 "congenital anomaly of kidney and urinary tract" 1 6 0 0 0 0 http://identifiers.org/hgnc/10585 "SCN1A" 0 0 0 0 0 0 http://identifiers.org/hgnc/84 "ACACA" 0 0 0 0 0 0 NCBITaxon:129369 "Pulicoidea" 0 1 0 0 0 0 @@ -22452,7 +22472,7 @@ MONDO:0011156 "progressive familial intrahepatic cholestasis type 2" 1 9 0 0 0 1 UBERON:0035398 "branch of external carotid artery" 0 0 0 0 0 1 NCIT:C101267 "Estrogen Receptor and/or Progesterone Receptor Positive" 0 0 0 0 0 0 MONDO:0044281 "obsolete c3hex, ability to smell" 1 1 0 0 0 0 -MONDO:0007472 "basal laminar drusen" 1 6 0 0 0 1 +MONDO:0007472 "basal laminar drusen" 1 5 0 0 0 1 MONDO:0015774 "thoraco-abdominal enteric duplication" 1 4 0 0 0 0 MONDO:0007097 "Finnish type amyloidosis" 0 8 0 0 0 0 CHR:9606-chr8 "chromosome 8 (Human)" 0 0 0 0 0 0 @@ -22484,7 +22504,7 @@ MONDO:0100058 "hypervalinemia and hyperleucine-isoleucinemia" 1 1 0 0 0 0 HP:0002099 "Asthma" 1 5 0 0 0 0 NCBITaxon:445 "Legionella" 0 5 0 0 0 0 MONDO:0004699 "gastrointestinal lymphoma" 1 5 0 0 0 1 -MONDO:0010320 "retinitis pigmentosa 23" 1 6 0 0 0 1 +MONDO:0010320 "retinitis pigmentosa 23" 1 5 0 0 0 1 UBERON:0003988 "thymus corticomedullary boundary" 0 0 0 0 0 1 MONDO:0040998 "Pasteurella multocida infectious disease" 0 3 0 0 0 1 HP:0030674 "Antenatal onset" 1 1 0 0 0 0 @@ -22493,18 +22513,18 @@ MONDO:0024562 "sick sinus syndrome 1" 1 2 0 0 0 1 MONDO:0004961 "stage I endometrioid carcinoma" 1 1 0 0 0 0 MONDO:0007740 "Wagner disease" 1 8 0 0 0 0 UBERON:0006291 "scapula pre-cartilage condensation" 0 0 0 0 0 1 -MONDO:0005352 "conduct disorder" 1 9 0 0 0 0 +MONDO:0005352 "conduct disorder" 1 7 0 0 0 0 http://identifiers.org/hgnc/18286 "RAX2" 0 0 0 0 0 0 MONDO:0700002 "ATP1A3-associated neurological disorder" 1 0 0 0 0 1 MONDO:0001029 "Klippel-Feil syndrome" 1 12 0 0 0 0 -MONDO:0015486 "keratoconus" 1 23 0 0 0 0 +MONDO:0015486 "keratoconus" 1 21 0 0 0 0 UBERON:0015129 "epicardial fat" 0 0 0 0 0 1 MONDO:0002661 "uveal disorder" 1 6 0 0 0 1 MONDO:0020361 "partial cryptophthalmia" 0 3 0 0 0 0 -MONDO:0002050 "depressive disorder" 1 10 0 0 0 0 +MONDO:0002050 "depressive disorder" 1 8 0 0 0 0 MONDO:0010224 "corpus callosum agenesis-abnormal genitalia syndrome" 1 7 0 0 0 0 http://identifiers.org/hgnc/3267 "EIF2S3" 0 0 0 0 0 0 -MONDO:0018868 "metachromatic leukodystrophy" 1 13 0 0 0 0 +MONDO:0018868 "metachromatic leukodystrophy" 1 11 0 0 0 0 UBERON:0016549 "central nervous system white matter layer" 0 0 0 0 0 1 MONDO:0011019 "alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome" 1 4 0 0 0 0 MONDO:0045046 "inherited thyroid metabolism disease" 1 3 0 0 0 1 @@ -22540,8 +22560,8 @@ ENVO:01000638 "planetary crust"@en 1 0 0 0 0 0 NCIT:C36779 "Malignant Epithelial Cell" 0 0 0 0 0 0 http://identifiers.org/hgnc/3092 "DYRK1B" 0 0 0 0 0 0 MONDO:0002644 "idiopathic granulomatous myositis" 0 4 0 0 0 0 -MONDO:0009175 "eosinophilic fasciitis" 1 10 0 0 0 0 -MONDO:0021061 "neurofibromatosis" 1 17 0 0 0 0 +MONDO:0009175 "eosinophilic fasciitis" 1 9 0 0 0 0 +MONDO:0021061 "neurofibromatosis" 1 15 0 0 0 0 MONDO:0003795 "ovarian small cell carcinoma" 1 8 0 0 0 1 MONDO:0005410 "acute graft vs. host disease" 1 1 0 0 0 0 UBERON:1000021 "skin of face" 0 0 0 0 0 1 @@ -22550,7 +22570,7 @@ MONDO:0100209 "X inactivation, familial skewed" 0 0 0 0 0 0 UBERON:0001749 "parenchyma of parathyroid gland" 0 0 0 0 0 1 UBERON:0035049 "excretory duct of salivary gland" 0 0 0 0 0 1 MONDO:0021462 "benign neoplasm of rectum" 1 4 0 0 0 1 -MONDO:0011673 "autosomal dominant nonsyndromic hearing loss 30" 1 6 0 0 0 0 +MONDO:0011673 "autosomal dominant nonsyndromic hearing loss 30" 1 5 0 0 0 0 UBERON:0001276 "epithelium of stomach" 0 0 0 0 0 1 http://identifiers.org/hgnc/6323 "KIF5A" 0 0 0 0 0 0 http://identifiers.org/hgnc/16255 "TGM6" 0 0 0 0 0 0 @@ -22572,7 +22592,8 @@ MONDO:0003328 "fallopian tube adenomatoid tumor" 1 3 0 0 0 1 GO:0035305 "negative regulation of dephosphorylation" 1 0 0 0 0 1 http://identifiers.org/hgnc/7499 "MT-TT" 0 0 0 0 0 0 MONDO:0017852 "infantile spasms-broad thumbs syndrome" 1 4 0 0 0 0 -MONDO:0002866 "duodenal disorder" 1 6 0 0 0 1 +MONDO:0002866 "duodenal disorder" 1 7 0 0 0 1 +MONDO:0017005 "obsolete Y chromosome number anomaly" 0 1 0 0 0 0 MONDO:0054736 "mosaic variegated aneuploidy syndrome 3" 0 1 0 0 0 0 http://identifiers.org/hgnc/16378 "OTOA" 0 0 0 0 0 0 http://identifiers.org/hgnc/19693 "COQ4" 0 0 0 0 0 0 @@ -22584,6 +22605,7 @@ CHEBI:33653 "aliphatic compound" 1 0 0 0 0 0 NCBITaxon:2129 "Ureaplasma" 0 5 0 0 0 0 GO:0000002 "mitochondrial genome maintenance" 1 0 0 0 0 0 MONDO:0010844 "epiphyseal dysplasia, multiple, 2" 1 6 0 0 0 1 +MONDO:8000030 "obsolete morphological anomaly" 0 1 0 0 0 0 GO:0003020 "detection of reduced oxygen by chemoreceptor signaling" 1 0 0 0 0 0 MONDO:0015558 "isolated bone marrow mastocytosis" 0 2 0 0 0 0 MONDO:0018538 "inherited digestive cancer-predisposing syndrome" 0 2 0 0 0 1 @@ -22632,7 +22654,7 @@ MONDO:0008288 "popliteal cyst" 1 4 0 0 0 0 CL:0000348 "choroidal cell of the eye" 1 0 0 0 0 1 MONDO:0003991 "villoglandular endometrial endometrioid adenocarcinoma" 1 3 0 0 0 0 CHEBI:27306 "vitamin B6" 1 0 0 0 0 0 -MONDO:0007215 "brachydactyly type A1" 1 10 0 0 0 0 +MONDO:0007215 "brachydactyly type A1" 1 11 0 0 0 0 MONDO:0012448 "hereditary spastic paraplegia 33" 1 4 0 0 0 1 PATO:0001925 "surface feature shape" 1 0 0 0 0 0 HP:0004905 "Low levels of vitamin A" 1 3 0 0 0 0 @@ -22641,9 +22663,9 @@ MONDO:0003129 "epithelial predominant pulmonary blastoma" 1 3 0 0 0 0 MONDO:0017819 "atypical dentin dysplasia due to SMOC2 deficiency" 0 4 0 0 0 0 MONDO:0008618 "mesomelic dwarfism, Reinhardt-Pfeiffer type" 1 7 0 0 0 0 CHEBI:16842 "formaldehyde" 1 0 0 0 0 0 -MONDO:0012920 "type 1 diabetes mellitus 21" 1 5 0 0 0 0 -MONDO:0012921 "type 1 diabetes mellitus 22" 1 5 0 0 0 1 -MONDO:0008638 "varicose disease" 1 9 0 0 0 1 +MONDO:0012920 "type 1 diabetes mellitus 21" 1 4 0 0 0 0 +MONDO:0012921 "type 1 diabetes mellitus 22" 1 4 0 0 0 1 +MONDO:0008638 "varicose disease" 1 8 0 0 0 1 GO:0044089 "positive regulation of cellular component biogenesis" 1 0 0 0 0 1 UBERON:0006862 "diaphysis of femur" 0 0 0 0 0 1 http://identifiers.org/hgnc/6325 "KIF5C" 0 0 0 0 0 0 @@ -22651,7 +22673,7 @@ GO:0007289 "spermatid nucleus differentiation" 1 0 0 0 0 0 GO:0033144 "negative regulation of intracellular steroid hormone receptor signaling pathway" 1 0 0 0 0 1 GO:0044458 "motile cilium assembly" 1 0 0 0 0 0 http://identifiers.org/hgnc/17288 "APOA5" 0 0 0 0 0 0 -MONDO:0001793 "excessive tearing" 1 9 0 0 0 0 +MONDO:0001793 "excessive tearing" 1 7 0 0 0 0 GO:0048018 "receptor ligand activity" 1 0 0 0 0 0 GO:0038024 "cargo receptor activity" 1 0 0 0 0 0 SO:0000055 "hyperploid" 1 0 0 0 0 0 @@ -22672,7 +22694,7 @@ CL:1000376 "Purkinje myocyte of interventricular septum" 1 1 0 0 0 1 CHEBI:64459 "biaryl" 1 0 0 0 0 0 NCBITaxon:436492 "Coelurosauria" 0 1 0 0 0 0 MONDO:0020413 "encircling double aortic arch" 1 3 0 0 0 0 -MONDO:0005814 "intestinal cancer" 1 8 0 0 0 1 +MONDO:0005814 "intestinal cancer" 1 7 0 0 0 1 CHR:9606-chr10q24 "10q24 (Human)" 0 0 0 0 0 0 GO:0098871 "postsynaptic actin cytoskeleton" 1 0 0 0 0 1 MONDO:0011371 "hydroa vacciniforme, familial" 1 4 0 0 0 1 @@ -22700,7 +22722,7 @@ MONDO:0000052 "obsolete leukodystrophy, hypomyelinating" 0 0 0 0 0 0 FOODON:03305803 "goat milk (raw)"@en 0 1 0 0 0 1 MONDO:0002689 "obsolete pseudomyxoma peritonei" 0 0 0 0 0 0 MONDO:0012032 "Braddock syndrome" 1 7 0 0 0 0 -MONDO:0008475 "spondylolisthesis" 1 10 0 0 0 0 +MONDO:0008475 "spondylolisthesis" 1 8 0 0 0 0 MONDO:0008991 "Verloove Vanhorick-Brubakk syndrome" 1 7 0 0 0 0 GO:0045640 "regulation of basophil differentiation" 1 0 0 0 0 1 CHR:9606-chr19p "19p (Human)" 0 0 0 0 0 0 @@ -22727,14 +22749,14 @@ FOODON:00002507 "taurine cattle"@en 1 0 0 0 0 0 MONDO:0003079 "mastocytoma" 1 5 0 0 0 0 MONDO:0003160 "obsolete sebaceous carcinoma" 1 0 0 0 0 0 MONDO:0004330 "leptomeningeal sarcoma" 1 3 0 0 0 1 -MONDO:0007138 "anterior segment dysgenesis 1" 0 5 0 0 0 0 +MONDO:0007138 "anterior segment dysgenesis 1" 0 4 0 0 0 0 http://identifiers.org/hgnc/10457 "RS1" 0 0 0 0 0 0 MONDO:0017301 "pericardial and diaphragmatic defect" 1 1 0 0 0 0 GO:0014051 "gamma-aminobutyric acid secretion" 1 0 0 0 0 0 NCBITaxon:1783270 "FCB group" 0 1 0 0 0 0 MONDO:0045070 "digestive system melanoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/16892 "CD96" 0 0 0 0 0 0 -MONDO:0012506 "arrhythmogenic right ventricular dysplasia 11" 1 5 0 0 0 1 +MONDO:0012506 "arrhythmogenic right ventricular dysplasia 11" 1 4 0 0 0 1 MONDO:0019024 "mast cell sarcoma" 1 11 0 0 0 1 CL:0000681 "radial glial cell" 1 0 0 0 0 0 MONDO:0006287 "malignancy in giant cell tumor of bone" 1 5 0 0 0 0 @@ -22757,7 +22779,7 @@ NCIT:C45980 "Absence of a Hormonal Syndrome" 0 0 0 0 0 0 MONDO:0044262 "obsolete cyanide, inability to smell" 0 1 0 0 0 0 MONDO:0010630 "imprinting gene related to retinoblastoma" 0 1 0 0 0 0 UBERON:0001457 "skin of eyelid" 0 0 0 0 0 1 -MONDO:0008379 "retinitis pigmentosa 10" 1 5 0 0 0 1 +MONDO:0008379 "retinitis pigmentosa 10" 1 4 0 0 0 1 UBERON:0000366 "flexor muscle" 0 0 0 0 0 0 http://identifiers.org/hgnc/243 "ADD1" 0 0 0 0 0 0 MONDO:0020654 "renal pelvis/ureter urothelial carcinoma" 1 1 0 0 0 1 @@ -22781,7 +22803,7 @@ MONDO:0017821 "obsolete functioning pituitary adenoma" 0 0 0 0 0 0 MONDO:0008660 "autosomal dominant hypophosphatemic rickets" 1 7 0 0 0 1 MONDO:0021517 "benign neoplasm of trachea" 1 5 0 0 0 1 MONDO:0034143 "early-onset calcifying leukoencephalopathy-skeletal dysplasia" 0 1 0 0 0 0 -MONDO:0007850 "autosomal dominant keratitis-ichthyosis-hearing loss syndrome" 1 5 0 0 0 1 +MONDO:0007850 "autosomal dominant keratitis-ichthyosis-hearing loss syndrome" 1 4 0 0 0 1 CHEBI:29347 "monocarboxylic acid amide" 1 0 0 0 0 0 GO:0010911 "regulation of isomerase activity" 1 0 0 0 0 1 http://identifiers.org/hgnc/11769 "TGFB3" 0 0 0 0 0 0 @@ -22809,13 +22831,13 @@ ENVO:09000008 "concentration of carbon atom in soil" 1 0 0 0 0 1 MONDO:0007376 "fleck corneal dystrophy" 1 8 0 0 0 0 CHEBI:36962 "organochalcogen compound" 1 0 0 0 0 0 UBERON:0001258 "neck of urinary bladder" 0 0 0 0 0 1 -MONDO:0001768 "stenosis of lacrimal passage" 0 5 0 0 0 0 +MONDO:0001768 "stenosis of lacrimal passage" 0 3 0 0 0 0 MONDO:0004481 "pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma" 1 4 0 0 0 0 UBERON:0010679 "manual digit 5 phalanx cartilage element" 0 0 0 0 0 1 MONDO:0001114 "bacterial myocarditis" 1 7 0 0 0 0 MONDO:0000472 "obsolete rheumatic heart disease" 0 0 0 0 0 0 -MONDO:0000947 "psychosexual disorder" 0 5 0 0 0 1 -MONDO:0007880 "congenital laryngeal web" 1 9 0 0 0 0 +MONDO:0000947 "psychosexual disorder" 0 6 0 0 0 1 +MONDO:0007880 "congenital laryngeal web" 1 8 0 0 0 0 MONDO:0012072 "familial partial lipodystrophy, Kobberling type" 1 6 0 0 0 0 http://identifiers.org/hgnc/2873 "CYB5R3" 0 0 0 0 0 0 MONDO:0010574 "syndromic X-linked intellectual disability 5" 1 12 0 0 0 0 @@ -22826,7 +22848,7 @@ MONDO:0008818 "arterial tortuosity syndrome" 1 9 0 0 0 0 MONDO:0004182 "stage IVb bladder cancer" 1 3 0 0 0 0 http://identifiers.org/hgnc/32925 "ATXN8" 0 0 0 0 0 0 MONDO:0015069 "neuroendocrine tumor of the anal canal" 1 3 0 0 0 1 -MONDO:0006019 "yaws" 1 12 0 0 0 1 +MONDO:0006019 "yaws" 1 11 0 0 0 1 MONDO:0011410 "Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly" 0 3 0 0 0 0 MONDO:0011010 "Matthew-Wood syndrome" 1 11 0 0 0 0 NCBITaxon:4857 "Entomophthorales" 0 3 0 0 0 0 @@ -22862,7 +22884,7 @@ MONDO:0006053 "renal leiomyoma" 1 1 0 0 0 1 MONDO:0009640 "obsolete mitochondrial complex I deficiency, nuclear type" 0 0 0 0 0 0 GO:0006564 "L-serine biosynthetic process" 1 0 0 0 0 0 MONDO:0010983 "dystonia 9" 1 7 0 0 0 0 -MONDO:0021148 "female reproductive system neoplasm" 1 4 0 0 0 1 +MONDO:0021148 "female reproductive system neoplasm" 1 5 0 0 0 1 GO:0043412 "macromolecule modification" 1 0 0 0 0 0 NCBITaxon:5478 "[Candida] glabrata" 0 2 0 0 0 0 MONDO:0010342 "autism, susceptibility to, X-linked 3" 0 1 0 0 0 1 @@ -22889,7 +22911,7 @@ MONDO:0600009 "severe hypophosphatasia" 1 0 0 0 0 0 http://identifiers.org/hgnc/318 "AGA" 0 0 0 0 0 0 PATO:0000402 "branched" 1 0 0 0 0 0 MONDO:0012106 "microcephaly 5, primary, autosomal recessive" 1 4 0 0 0 1 -MONDO:0001535 "vagus nerve disorder" 1 7 0 0 0 1 +MONDO:0001535 "vagus nerve disorder" 1 6 0 0 0 1 IAO:8000017 "ontology module subsetted by expressivity"@en 0 0 0 0 0 0 MONDO:0016614 "autosomal recessive ataxia due to PEX10 deficiency" 0 3 0 0 0 0 CL:0000165 "neuroendocrine cell" 1 2 0 0 0 0 @@ -22903,7 +22925,7 @@ http://identifiers.org/hgnc/8515 "OTOF" 0 0 0 0 0 0 MONDO:0018787 "genetic cerebral small vessel disease" 0 2 0 0 0 0 MONDO:0002958 "signet ring basal cell carcinoma" 0 3 0 0 0 0 MONDO:0017383 "familial clubfoot due to PITX1 point mutation" 0 4 0 0 0 0 -MONDO:0002602 "central nervous system disorder" 1 6 0 0 0 1 +MONDO:0002602 "central nervous system disorder" 1 5 0 0 0 1 http://identifiers.org/hgnc/8516 "OTOG" 0 0 0 0 0 0 MONDO:0018934 "obsolete mucopolysaccharidosis type 1" 0 0 0 0 0 0 GO:0120038 "obsolete plasma membrane bounded cell projection part" 1 0 0 0 0 0 @@ -22926,13 +22948,14 @@ CHR:9606-chr11p "11p (Human)" 0 0 0 0 0 0 MONDO:0009080 "split hand-foot malformation 1 with sensorineural hearing loss" 1 7 0 0 0 0 http://identifiers.org/hgnc/22788 "FEZF1" 0 0 0 0 0 0 MONDO:0006795 "hypersplenism" 1 10 0 0 0 0 +MONDO:0013612 "geleophysic dysplasia 2" 1 4 0 0 0 1 MONDO:0011923 "osteoarthritis susceptibility 3" 1 1 0 0 0 1 NCBITaxon:46839 "Colorado tick fever virus" 0 1 0 0 0 0 http://identifiers.org/hgnc/16380 "TRIM32" 0 0 0 0 0 0 MONDO:0044979 "obsolete disease by cell type" 0 0 0 0 0 0 GO:0006090 "pyruvate metabolic process" 1 0 0 0 0 0 MONDO:0019155 "Leydig cell hypoplasia" 1 5 0 0 0 0 -MONDO:0012670 "autosomal recessive nonsyndromic hearing loss 63" 1 5 0 0 0 1 +MONDO:0012670 "autosomal recessive nonsyndromic hearing loss 63" 1 4 0 0 0 1 MONDO:0000304 "penicilliosis" 1 4 0 0 0 1 MONDO:0700120 "BAFopathy" 1 0 0 0 0 0 HP:0001644 "Dilated cardiomyopathy" 1 5 0 0 0 0 @@ -22947,7 +22970,7 @@ MONDO:0017838 "sclerosteosis" 1 12 0 0 0 0 MONDO:0017457 "Preaxial polydactyly of toes" 0 4 0 0 0 0 GO:0003018 "vascular process in circulatory system" 1 0 0 0 0 0 MONDO:0017947 "ABeta amyloidosis, Italian type" 1 4 0 0 0 0 -MONDO:0001392 "monocular exotropia" 0 6 0 0 0 0 +MONDO:0001392 "monocular exotropia" 0 5 0 0 0 0 UBERON:0006715 "radio-ulna" 0 0 0 0 0 1 GO:0048469 "cell maturation" 1 0 0 0 0 0 http://identifiers.org/hgnc/21406 "RARS2" 0 0 0 0 0 0 @@ -22961,19 +22984,19 @@ MONDO:0010317 "intellectual disability, X-linked, with or without seizures, arx- GO:0003332 "negative regulation of extracellular matrix constituent secretion" 1 0 0 0 0 1 http://identifiers.org/hgnc/2558 "CX3CR1" 0 0 0 0 0 0 GO:1905903 "negative regulation of mesoderm formation" 1 0 0 0 0 1 -MONDO:0001654 "spermatic cord cancer" 1 6 0 0 0 1 +MONDO:0001654 "spermatic cord cancer" 1 5 0 0 0 1 MONDO:0042908 "Schaap-Taylor-Baraitser syndrome" 0 1 0 0 0 0 MONDO:0003595 "sclerosing liposarcoma" 1 5 0 0 0 0 MONDO:0014655 "obsolete Bethlem myopathy 2" 0 0 0 0 0 0 MONDO:0019318 "inflammatory linear verrucous epidermal nevus" 0 5 0 0 0 0 GO:0030425 "dendrite" 1 0 0 0 0 0 -MONDO:0004981 "atrial fibrillation" 1 11 0 0 0 0 +MONDO:0004981 "atrial fibrillation" 1 8 0 0 0 0 MONDO:0014088 "advanced sleep phase syndrome 2" 1 4 0 0 0 1 MONDO:0015282 "cardiomyopathy-cataract-hip spine disease syndrome" 1 5 0 0 0 0 CHR:9606-chr3q1 "3q1 (Human)" 0 0 0 0 0 0 HP:0002797 "Osteolysis" 1 4 0 0 0 0 MONDO:0005283 "retinal disorder" 1 10 0 0 0 1 -MONDO:0019111 "familial thrombocytosis" 1 9 0 0 0 1 +MONDO:0019111 "familial thrombocytosis" 1 8 0 0 0 1 UBERON:0003458 "neck bone" 0 0 0 0 0 1 PATO:0001407 "mononucleate" 1 0 0 0 0 0 MONDO:0018174 "hereditary glaucoma" 1 4 0 0 0 1 @@ -23000,12 +23023,12 @@ MONDO:0002723 "obsolete cutaneous mastocytosis" 0 0 0 0 0 0 GO:0002433 "immune response-regulating cell surface receptor signaling pathway involved in phagocytosis" 1 0 0 0 0 1 UBERON:0003435 "pedal digit nerve" 0 0 0 0 0 1 MONDO:0021153 "obsolete genetic and acquired" 0 0 0 0 0 0 -MONDO:0001225 "opioid abuse" 1 4 0 0 0 0 +MONDO:0001225 "opioid abuse" 1 3 0 0 0 0 MONDO:0013461 "inosine triphosphatase deficiency" 1 7 0 0 0 0 http://identifiers.org/hgnc/360 "AIRE" 0 0 0 0 0 0 MONDO:0020767 "cauda equina syndrome with neurogenic bladder" 1 4 0 0 0 0 MONDO:0017785 "PENS syndrome" 1 2 0 0 0 0 -MONDO:0001590 "quadriplegia" 1 9 0 0 0 0 +MONDO:0001590 "quadriplegia" 1 7 0 0 0 0 MONDO:0002952 "follicular basal cell carcinoma" 0 4 0 0 0 0 CHEBI:76760 "EC 3.1.* (ester hydrolase) inhibitor" 1 0 0 0 0 0 UBERON:0011108 "synovial joint of pectoral girdle" 0 0 0 0 0 1 @@ -23014,19 +23037,19 @@ CL:0000327 "extracellular matrix secreting cell" 0 0 0 0 0 1 GO:1903651 "positive regulation of cytoplasmic transport" 1 0 0 0 0 1 MONDO:0021488 "benign neoplasm of lacrimal gland" 1 4 0 0 0 1 GO:0004896 "cytokine receptor activity" 1 0 0 0 0 0 -MONDO:0004812 "acute dacryoadenitis" 1 5 0 0 0 1 -MONDO:0004598 "acute cor pulmonale" 1 5 0 0 0 1 +MONDO:0004812 "acute dacryoadenitis" 1 4 0 0 0 1 +MONDO:0004598 "acute cor pulmonale" 1 4 0 0 0 1 UBERON:0004791 "thymus trabecula" 0 0 0 0 0 1 UBERON:0010252 "1st arch mandibular mesenchyme from neural crest" 0 0 0 0 0 1 MONDO:0018917 "obsolete Marfan syndrome" 0 0 0 0 0 0 MONDO:0012190 "nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome" 0 4 0 0 0 0 http://identifiers.org/hgnc/245 "ADD3" 0 0 0 0 0 0 -MONDO:0008610 "blue color blindness" 1 8 0 0 0 0 +MONDO:0008610 "blue color blindness" 1 7 0 0 0 0 MONDO:0010600 "granulomatous disease, chronic, X-linked" 0 7 0 0 0 0 -MONDO:0008753 "alkaptonuria" 1 13 0 0 0 0 +MONDO:0008753 "alkaptonuria" 1 12 0 0 0 0 MONDO:0009844 "pellagra-like syndrome" 0 5 0 0 0 0 MONDO:0003464 "cystadenofibroma" 1 4 0 0 0 0 -MONDO:0003781 "bronchitis" 1 17 0 0 0 1 +MONDO:0003781 "bronchitis" 1 13 0 0 0 1 NCBITaxon:42458 "Lichtheimia corymbifera" 0 2 0 0 0 0 http://identifiers.org/hgnc/3415 "EPO" 0 0 0 0 0 0 MONDO:0000820 "cerebral cavernous malformation" 1 3 0 0 0 0 @@ -23045,8 +23068,8 @@ UBERON:0003662 "forelimb muscle" 0 0 0 0 0 1 MONDO:0008124 "omphalocele, autosomal" 0 5 0 0 0 0 CHR:9606-chr20q11 "20q11 (Human)" 0 0 0 0 0 0 MONDO:0014955 "retinal dystrophy with or without extraocular anomalies" 0 2 0 0 0 0 -MONDO:0004810 "acute ethmoiditis" 1 6 0 0 0 1 -MONDO:0001458 "ulnar nerve lesion" 1 6 0 0 0 1 +MONDO:0004810 "acute ethmoiditis" 1 4 0 0 0 1 +MONDO:0001458 "ulnar nerve lesion" 1 4 0 0 0 1 GO:0045948 "positive regulation of translational initiation" 1 0 0 0 0 1 MONDO:0008414 "schizophrenia 1" 1 2 0 0 0 0 NCBITaxon:6687 "Penaeus monodon" 0 1 0 0 0 0 @@ -23085,7 +23108,7 @@ NBO:0000550 "recognition memory" 1 0 0 0 0 0 GO:2000215 "negative regulation of proline metabolic process" 1 0 0 0 0 1 UBERON:0006271 "orbital fissure" 0 0 0 0 0 1 MONDO:0004225 "monoclonal gammopathy of uncertain significance" 1 11 0 0 0 0 -MONDO:0007186 "gastroesophageal reflux disease" 1 11 0 0 0 0 +MONDO:0007186 "gastroesophageal reflux disease" 1 9 0 0 0 0 MONDO:0014184 "specific language impairment 5" 1 2 0 0 0 0 MONDO:0016756 "inherited nervous system cancer-predisposing syndrome" 0 2 0 0 0 0 MONDO:0014035 "severe intellectual disability-progressive spastic diplegia syndrome" 1 6 0 0 0 0 @@ -23097,21 +23120,21 @@ PATO:0000060 "spatial pattern" 1 0 0 0 0 0 UBERON:0001813 "spinal nerve plexus" 0 0 0 0 0 1 MONDO:0007923 "macrocephaly, benign familial" 0 3 0 0 0 0 HP:0001025 "Urticaria" 1 6 0 0 0 0 -MONDO:0004706 "discoid lupus erythematosus of eyelid" 0 5 0 0 0 0 +MONDO:0004706 "discoid lupus erythematosus of eyelid" 0 4 0 0 0 0 MONDO:0029042 "obsolete ureteropelvic junction obstruction" 0 1 0 0 0 0 -MONDO:0001106 "kidney failure" 1 10 0 0 0 0 +MONDO:0001106 "kidney failure" 1 9 0 0 0 0 http://identifiers.org/hgnc/8549 "BLOC1S6" 0 0 0 0 0 0 GO:1901343 "negative regulation of vasculature development" 1 0 0 0 0 1 CL:0000990 "conventional dendritic cell" 1 1 0 0 0 0 MONDO:0032813 "developmental and epileptic encephalopathy, 79" 0 1 0 0 0 0 -MONDO:0014214 "short-rib thoracic dysplasia 8 with or without polydactyly" 1 5 0 0 0 0 +MONDO:0014214 "short-rib thoracic dysplasia 8 with or without polydactyly" 1 4 0 0 0 0 MONDO:0020698 "inborn error of biotin metabolism" 0 0 0 0 0 1 -MONDO:0011266 "myotonic dystrophy type 2" 1 8 0 0 0 1 -MONDO:0008351 "pupil, egg-shaped" 0 3 0 0 0 0 +MONDO:0011266 "myotonic dystrophy type 2" 1 7 0 0 0 1 CL:0010004 "mononuclear cell of bone marrow" 1 0 0 0 0 1 MONDO:0004963 "T-cell acute lymphoblastic leukemia" 1 6 0 0 0 1 PATO:0002009 "branchiness" 1 0 0 0 0 0 GO:0032106 "positive regulation of response to extracellular stimulus" 1 0 0 0 0 1 +MONDO:0008068 "obsolete navicular bone, accessory" 0 3 0 0 0 0 CL:0000575 "corneal epithelial cell" 1 3 0 0 0 1 UBERON:0000062 "organ" 0 0 0 0 0 0 MONDO:0011605 "generalized basaloid follicular hamartoma syndrome" 1 6 0 0 0 0 @@ -23152,14 +23175,14 @@ ENVO:01001617 "snow accumulation process"@en 1 0 0 0 0 0 CHEBI:28868 "fatty acid anion" 1 0 0 0 0 0 MONDO:0012377 "asperger syndrome, susceptibility to, 4" 0 1 0 0 0 0 MONDO:0010416 "deafness, cataract, retinitis pigmentosa, and sperm abnormalities" 0 3 0 0 0 0 -MONDO:0013529 "catecholaminergic polymorphic ventricular tachycardia 3" 1 5 0 0 0 1 -MONDO:0006721 "de Quervain disease" 1 7 0 0 0 0 +MONDO:0013529 "catecholaminergic polymorphic ventricular tachycardia 3" 1 4 0 0 0 1 +MONDO:0006721 "de Quervain disease" 1 6 0 0 0 0 MONDO:0044267 "obsolete gcy" 0 1 0 0 0 0 CHR:9606-chr5q14.3 "5q14.3 (Human)" 0 0 0 0 0 0 MONDO:0009035 "craniometaphyseal dysplasia, autosomal recessive" 1 4 0 0 0 1 UBERON:0002122 "capsule of thymus" 0 0 0 0 0 1 MONDO:0011699 "inflammatory bowel disease 8" 1 4 0 0 0 0 -MONDO:0012418 "autosomal recessive nonsyndromic hearing loss 62" 1 5 0 0 0 0 +MONDO:0012418 "autosomal recessive nonsyndromic hearing loss 62" 1 4 0 0 0 0 MONDO:0600019 "acinar dysplasia caused by mutation in TBX4" 1 0 0 0 0 1 UBERON:0008447 "intertarsal joint" 0 0 0 0 0 1 UBERON:0022356 "outer layer of endometrium" 0 0 0 0 0 1 @@ -23169,7 +23192,7 @@ UBERON:0001994 "hyaline cartilage tissue" 0 0 0 0 0 0 MONDO:0032928 "T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant" 0 1 0 0 0 0 UBERON:0035804 "future mouth" 0 0 0 0 0 0 MONDO:0013836 "familial steroid-resistant nephrotic syndrome with sensorineural deafness" 0 5 0 0 0 0 -MONDO:0004978 "aortic stenosis" 1 12 0 0 0 0 +MONDO:0004978 "aortic stenosis" 1 10 0 0 0 0 MONDO:0018386 "obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder" 0 2 0 0 0 0 MONDO:0015010 "atypical glycine encephalopathy" 1 4 0 0 0 0 MONDO:0015585 "cryptogenic late-onset epileptic spasms" 1 1 0 0 0 0 @@ -23189,7 +23212,7 @@ MONDO:0011932 "hypotrichosis 6" 1 5 0 0 0 1 GO:1990611 "regulation of cytoplasmic translational initiation in response to stress" 1 0 0 0 0 1 http://identifiers.org/hgnc/5005 "HMGCL" 0 0 0 0 0 0 MONDO:0020234 "obsolete craniofacial anomaly with cataract" 0 1 0 0 0 0 -MONDO:0003282 "ovarian cyst" 0 6 0 0 0 0 +MONDO:0003282 "ovarian cyst" 0 5 0 0 0 0 MONDO:0019600 "xeroderma pigmentosum" 1 17 0 0 0 0 MONDO:0010370 "Cornelia de Lange syndrome 2" 1 5 0 0 0 1 UBERON:0034769 "lymphomyeloid tissue" 0 0 0 0 0 0 @@ -23242,10 +23265,10 @@ http://identifiers.org/hgnc/9006 "PITX3" 0 0 0 0 0 0 http://identifiers.org/hgnc/25302 "COQ9" 0 0 0 0 0 0 MONDO:0019432 "rheumatoid factor-negative juvenile idiopathic arthritis" 1 2 0 0 0 0 CL:1001430 "urethra urothelial cell" 0 1 0 0 0 1 -MONDO:0005351 "anorexia nervosa" 1 10 0 0 0 0 +MONDO:0005351 "anorexia nervosa" 1 9 0 0 0 0 MONDO:0025369 "Nairobi sheep disease" 1 3 0 0 0 0 UBERON:0003133 "reproductive organ" 0 0 0 0 0 1 -MONDO:0001642 "hordeolum externum" 1 6 0 0 0 0 +MONDO:0001642 "hordeolum externum" 1 4 0 0 0 0 UBERON:0000992 "ovary" 0 0 0 0 0 1 MONDO:0009728 "nephronophthisis 1" 1 11 0 0 0 1 MONDO:0018793 "primary condylar hyperplasia" 0 1 0 0 0 0 @@ -23258,7 +23281,7 @@ CL:0011005 "GABAergic interneuron" 1 0 0 0 0 1 MONDO:0012324 "Frias syndrome" 1 7 0 0 0 0 MONDO:0021966 "baker Vinters syndrome" 1 3 0 0 0 0 MONDO:0006271 "low grade central osteosarcoma" 1 6 0 0 0 1 -MONDO:0007354 "coloboma of optic nerve" 0 11 0 0 0 0 +MONDO:0007354 "coloboma of optic nerve" 0 8 0 0 0 0 UBERON:0000981 "femur" 0 0 0 0 0 1 UBERON:0002241 "chondrocranium" 0 0 0 0 0 0 UBERON:0019292 "white matter of pons" 0 0 0 0 0 1 @@ -23303,7 +23326,7 @@ MONDO:0016720 "obsolete atypical papilloma of choroid plexus" 0 0 0 0 0 0 MONDO:0004197 "male urethral cancer" 1 3 0 0 0 1 MONDO:0005023 "ductal breast carcinoma in situ" 1 9 0 0 0 1 MONDO:0021534 "rectal neuroendocrine tumor G1" 1 3 0 0 0 1 -MONDO:0043458 "radiation injury" 1 2 0 0 0 1 +MONDO:0043458 "radiation injury" 1 4 0 0 0 1 MONDO:0004108 "diaphragma sellae meningioma" 1 3 0 0 0 1 MONDO:0015026 "cerebroretinal microangiopathy with calcifications and cysts 2" 1 2 0 0 0 1 MONDO:0007759 "hyperlipidemia, familial combined, LPL related" 0 1 0 0 0 0 @@ -23321,7 +23344,7 @@ MONDO:0002697 "ovarian gonadoblastoma" 1 8 0 0 0 1 GO:0042310 "vasoconstriction" 1 0 0 0 0 0 UBERON:0009919 "ureter smooth muscle" 0 0 0 0 0 1 MONDO:0000612 "lymphatic system cancer" 1 1 0 0 0 1 -MONDO:0019080 "alopecia totalis" 1 10 0 0 0 0 +MONDO:0019080 "alopecia totalis" 1 9 0 0 0 0 MONDO:0010879 "CODAS syndrome" 1 9 0 0 0 0 MONDO:0006226 "gastric mucosa-associated lymphoid tissue lymphoma" 1 3 0 0 0 1 GO:0044264 "cellular polysaccharide metabolic process" 1 0 0 0 0 0 @@ -23335,11 +23358,11 @@ MONDO:0010115 "thoracic dysplasia-hydrocephalus syndrome" 0 6 0 0 0 0 GO:0007249 "I-kappaB kinase/NF-kappaB signaling" 1 0 0 0 0 0 MONDO:0020079 "obsolete plasma cell tumor" 0 0 0 0 0 0 NCBITaxon:142786 "Norovirus" 0 1 0 0 0 0 -MONDO:0018689 "plasma cell leukemia" 1 13 0 0 0 0 +MONDO:0018689 "plasma cell leukemia" 1 11 0 0 0 0 http://identifiers.org/hgnc/1149 "BUB1B" 0 0 0 0 0 0 MONDO:0003862 "melanotic psammomatous malignant peripheral nerve sheath tumor" 1 3 0 0 0 0 MONDO:0005048 "pancreatic insulin-producing neuroendocrine tumor" 1 4 0 0 0 0 -MONDO:0006558 "pemphigoid gestationis" 1 16 0 0 0 0 +MONDO:0006558 "pemphigoid gestationis" 1 13 0 0 0 0 MONDO:0015396 "congenital laryngeal cyst" 1 4 0 0 0 0 MONDO:0020747 "sitosterolemia 1" 0 1 0 0 0 0 MONDO:0016845 "21q22.11q22.12 microdeletion syndrome" 0 3 0 0 0 1 @@ -23352,8 +23375,8 @@ MONDO:0014143 "Noonan syndrome 8" 1 4 0 0 0 1 http://identifiers.org/hgnc/174 "ACVR2B" 0 0 0 0 0 0 MONDO:0000278 "obsolete Bolivian hemorrhagic fever" 0 0 0 0 0 0 MONDO:0011002 "neuropathy, hereditary motor and sensory, type 6A" 1 3 0 0 0 1 -MONDO:0015842 "bicornuate uterus" 0 4 0 0 0 0 -MONDO:0001700 "megaloblastic anemia" 1 9 0 0 0 0 +MONDO:0015842 "bicornuate uterus" 0 3 0 0 0 0 +MONDO:0001700 "megaloblastic anemia" 1 8 0 0 0 0 http://identifiers.org/hgnc/24529 "TMEM98" 0 0 0 0 0 0 NCBITaxon:169455 "Coelopellini" 0 1 0 0 0 0 MONDO:0012119 "asperger syndrome, susceptibility to, 3" 0 2 0 0 0 0 @@ -23367,14 +23390,14 @@ HP:0040066 "obsolete Abnormal morphology of bones of the lower limbs" 0 0 0 0 0 http://identifiers.org/hgnc/9005 "PITX2" 0 0 0 0 0 0 MONDO:0015033 "ABeta amyloidosis, dutch type" 1 6 0 0 0 0 http://identifiers.org/hgnc/7631 "NAGA" 0 0 0 0 0 0 -MONDO:0019629 "sclerocornea" 1 6 0 0 0 0 +MONDO:0019629 "sclerocornea" 1 5 0 0 0 0 MONDO:0008230 "peroxidase, salivary" 0 1 0 0 0 0 UBERON:0001810 "nerve plexus" 0 0 0 0 0 0 -MONDO:0005338 "open-angle glaucoma" 1 29 0 0 0 0 +MONDO:0005338 "open-angle glaucoma" 1 27 0 0 0 0 MONDO:0020748 "sitosterolemia 2" 0 1 0 0 0 0 CHEBI:35820 "antiprotozoal drug" 1 0 0 0 0 0 MONDO:0007797 "hypoparathyroidism-deafness-renal disease syndrome" 1 9 0 0 0 0 -MONDO:0002940 "anal margin basal cell carcinoma" 1 4 0 0 0 1 +MONDO:0002940 "anal margin basal cell carcinoma" 1 3 0 0 0 1 CL:0002603 "astrocyte of the cerebellum" 1 0 0 0 0 1 MONDO:0020794 "colorectal medullary carcinoma" 1 1 0 0 0 0 MONDO:0010242 "fetal akinesia syndrome, X-linked" 0 5 0 0 0 0 @@ -23410,7 +23433,7 @@ MONDO:0000849 "fibrogenesis imperfecta ossium" 1 1 0 0 0 0 MONDO:0012996 "AGAT deficiency" 1 9 0 0 0 1 MONDO:0017374 "obsolete polydactyly" 0 0 0 0 0 0 CHEBI:22693 "barbiturates" 1 0 0 0 0 0 -MONDO:0001022 "disuse amblyopia" 0 5 0 0 0 0 +MONDO:0001022 "disuse amblyopia" 0 4 0 0 0 0 GO:0005764 "lysosome" 1 0 0 0 0 0 NCBITaxon:6684 "Dendrobranchiata" 0 1 0 0 0 0 GO:1905904 "positive regulation of mesoderm formation" 1 0 0 0 0 1 @@ -23424,11 +23447,11 @@ MONDO:0021509 "benign neoplasm of myocardium" 1 3 0 0 0 1 CHEBI:25741 "oxide" 1 0 0 0 0 0 NCBITaxon:58024 "Spermatophyta" 0 1 0 0 0 0 UBERON:0039261 "pancreatic artery" 0 0 0 0 0 1 -MONDO:0001325 "penile cancer" 1 14 0 0 0 1 -MONDO:0000707 "diversion colitis" 1 6 0 0 0 0 +MONDO:0001325 "penile cancer" 1 13 0 0 0 1 +MONDO:0000707 "diversion colitis" 1 5 0 0 0 0 http://identifiers.org/hgnc/1701 "CD81" 0 0 0 0 0 0 MONDO:0018441 "obsolete hepatitis delta" 0 0 0 0 0 0 -MONDO:0018066 "trisomy X" 1 7 0 0 0 0 +MONDO:0018066 "trisomy X" 1 6 0 0 0 0 MONDO:0011649 "AVSD 1" 0 2 0 0 0 0 MONDO:0020090 "obsolete male infertility due to gonadal dysgenesis" 0 1 0 0 0 0 MONDO:0100186 "GTP cyclohydrolase I deficiency with hyperphenylalaninemia" 0 9 0 0 0 0 @@ -23446,9 +23469,9 @@ MONDO:0010739 "Taqi polymorphism" 0 1 0 0 0 0 MONDO:0017696 "glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form" 0 4 0 0 0 0 NCBITaxon:5039 "Blastomyces dermatitidis" 0 1 0 0 0 0 NCBITaxon:186536 "Ebolavirus" 0 1 0 0 0 0 -MONDO:0001349 "odontoclasia" 0 5 0 0 0 0 +MONDO:0001349 "odontoclasia" 0 4 0 0 0 0 MONDO:0016808 "mitochondrial DNA depletion syndrome, hepatocerebral form" 0 4 0 0 0 0 -MONDO:0010832 "Bardet-Biedl syndrome 3" 0 8 0 0 0 0 +MONDO:0010832 "Bardet-Biedl syndrome 3" 0 7 0 0 0 0 MONDO:0013524 "bleeding diathesis due to thromboxane synthesis deficiency" 0 3 0 0 0 0 UBERON:0003844 "upper eyelid epithelium" 0 0 0 0 0 1 MONDO:0000112 "obsolete cardioencephalomyopathy, fatal infantile" 0 0 0 0 0 0 @@ -23479,7 +23502,7 @@ UBERON:0018247 "cervical thymic artery" 0 0 0 0 0 1 UBERON:0000011 "parasympathetic nervous system" 0 0 0 0 0 0 HP:0033835 "Abnormal renal vascular morphology" 1 0 0 0 0 0 MONDO:0008892 "progressive familial intrahepatic cholestasis type 1" 1 8 0 0 0 0 -MONDO:0014385 "amelogenesis imperfecta hypomaturation type 2A5" 1 5 0 0 0 1 +MONDO:0014385 "amelogenesis imperfecta hypomaturation type 2A5" 1 4 0 0 0 1 ENVO:00000131 "glacial feature" 1 0 0 0 0 1 MONDO:0015905 "syndromic dyslipidemia" 1 3 0 0 0 1 MONDO:0003924 "adrenal cortex adenoma" 1 13 0 0 0 1 @@ -23520,7 +23543,7 @@ HP:0001387 "Joint stiffness" 1 2 0 0 0 0 HP:0020219 "Motor seizure" 1 0 0 0 0 0 GO:0071708 "immunoglobulin light chain V-J recombination" 1 0 0 0 0 0 MONDO:0007691 "Guillain-Barre syndrome, familial" 1 6 0 0 0 0 -MONDO:0019467 "CD4+/CD56+ hematodermic neoplasm" 1 10 0 0 0 0 +MONDO:0019467 "CD4+/CD56+ hematodermic neoplasm" 1 9 0 0 0 0 MONDO:0021515 "benign neoplasm of ethmoidal sinus" 1 4 0 0 0 1 MONDO:0004562 "breast apocrine carcinoma in situ" 1 3 0 0 0 0 MONDO:0018252 "focal palmoplantar keratoderma with joint keratoses" 0 4 0 0 0 0 @@ -23540,19 +23563,19 @@ MONDO:0035349 "localized dystrophic epidermolysis bullosa" 1 1 0 0 0 0 UBERON:0013759 "internal cervical os" 0 0 0 0 0 1 CHR:9606-chr14q11 "14q11 (Human)" 0 0 0 0 0 0 UBERON:0009843 "prostate epithelial cord" 0 0 0 0 0 1 -MONDO:0013754 "cutis laxa, autosomal recessive, type 1B" 1 5 0 0 0 1 +MONDO:0013754 "cutis laxa, autosomal recessive, type 1B" 1 4 0 0 0 1 UBERON:0010425 "internal naris" 0 0 0 0 0 1 SO:0000733 "feature_attribute" 1 0 0 0 0 0 UBERON:0022278 "nucleus of pudendal nerve" 0 0 0 0 0 1 MONDO:0014505 "developmental and epileptic encephalopathy, 27" 1 4 0 0 0 1 CL:0000099 "interneuron" 1 4 0 0 0 0 -MONDO:0001364 "regular astigmatism" 0 5 0 0 0 0 +MONDO:0001364 "regular astigmatism" 0 4 0 0 0 0 MONDO:0010942 "obsolete eukaryotic translation elongation factor 1 alpha-1-like 14" 0 0 0 0 0 0 MONDO:0020325 "anaplastic large cell lymphoma" 1 15 0 0 0 0 GO:0019730 "antimicrobial humoral response" 1 0 0 0 0 0 MONDO:0021132 "tertiary hyperparathyroidism" 1 4 0 0 0 0 UBERON:0005309 "pronephric nephron" 0 0 0 0 0 1 -MONDO:0005664 "bartonellosis" 1 9 0 0 0 1 +MONDO:0005664 "bartonellosis" 1 8 0 0 0 1 MONDO:0008210 "patterned macular dystrophy 1" 1 4 0 0 0 1 http://identifiers.org/hgnc/2417 "CRYGS" 0 0 0 0 0 0 GO:1901402 "negative regulation of tetrapyrrole metabolic process" 1 0 0 0 0 1 @@ -23565,7 +23588,7 @@ MONDO:0020255 "obsolete oculomotor palsy" 0 0 0 0 0 0 MONDO:0000567 "obsolete C1 inhibitor deficiency" 0 0 0 0 0 0 MONDO:0100451 "CEP290-related ciliopathy" 1 0 0 0 0 0 MONDO:0012983 "cone-rod dystrophy 12" 1 4 0 0 0 1 -MONDO:0013181 "amelogenesis imperfecta hypomaturation type 2A3" 1 6 0 0 0 1 +MONDO:0013181 "amelogenesis imperfecta hypomaturation type 2A3" 1 5 0 0 0 1 GO:0034105 "positive regulation of tissue remodeling" 1 0 0 0 0 1 MONDO:0015378 "fourth branchial cleft anomaly" 0 3 0 0 0 0 HP:0000998 "Hypertrichosis" 1 4 0 0 0 0 @@ -23607,7 +23630,7 @@ GO:0070588 "calcium ion transmembrane transport" 1 0 0 0 0 0 http://identifiers.org/hgnc/4689 "GUCY2D" 0 0 0 0 0 0 GO:0005244 "voltage-gated ion channel activity" 1 0 0 0 0 0 MONDO:0700063 "complete" 1 0 0 0 0 0 -MONDO:0018155 "lateral sclerosis" 1 12 0 0 0 0 +MONDO:0018155 "lateral sclerosis" 1 11 0 0 0 0 CHEBI:33702 "polyatomic cation" 1 0 0 0 0 0 UBERON:0010720 "hindlimb zeugopod skeleton" 0 0 0 0 0 1 MONDO:0005950 "Salmonella gastroenteritis" 1 4 0 0 0 1 @@ -23668,7 +23691,7 @@ UBERON:0003460 "arm bone" 0 0 0 0 0 1 MONDO:0019393 "idiopathic malabsorption due to bile acid synthesis defects" 1 2 0 0 0 0 MONDO:0003310 "Monckeberg arteriosclerosis" 1 3 0 0 0 0 UBERON:0013162 "right lateral ventricle" 0 0 0 0 0 1 -MONDO:0010526 "Fabry disease" 1 12 0 0 0 0 +MONDO:0010526 "Fabry disease" 1 11 0 0 0 0 MONDO:0011181 "fibrosis of extraocular muscles, congenital, 2" 1 4 0 0 0 1 MONDO:0042961 "sacral hemangiomas multiple congenital abnormalities" 0 3 0 0 0 0 MONDO:0042493 "gastric non-hodgkin lymphoma" 1 4 0 0 0 1 @@ -23676,7 +23699,7 @@ MONDO:0003041 "pediatric mesenchymal chondrosarcoma" 1 3 0 0 0 1 MONDO:0018323 "HSD10 disease, neonatal type" 1 4 0 0 0 0 MONDO:0013816 "obsolete palmoplantar keratoderma, mutilating, with periorificial keratotic plaques" 0 0 0 0 0 0 MONDO:0000439 "obsolete batten disease" 0 0 0 0 0 0 -MONDO:0001800 "equatorial staphyloma" 0 5 0 0 0 0 +MONDO:0001800 "equatorial staphyloma" 0 4 0 0 0 0 MONDO:0020186 "obsolete eyebrow hypertrophy" 0 1 0 0 0 0 GO:0002791 "regulation of peptide secretion" 1 0 0 0 0 1 GO:1902093 "positive regulation of flagellated sperm motility" 1 0 0 0 0 1 @@ -23722,7 +23745,7 @@ MONDO:0012614 "intellectual disability, autosomal recessive 6" 1 3 0 0 0 1 MONDO:0044727 "pancreatic carcinoma with mixed differentiation" 1 3 0 0 0 1 GO:0008395 "steroid hydroxylase activity" 1 0 0 0 0 0 UBERON:0005745 "optic foramen" 0 0 0 0 0 1 -MONDO:0700003 "obstetric disorder" 1 0 0 0 0 1 +MONDO:0700003 "obstetric disorder" 1 1 0 0 0 1 MONDO:0020615 "obsolete blood group system, landsteiner-wiener" 0 1 0 0 0 0 http://identifiers.org/hgnc/20670 "TWIST2" 0 0 0 0 0 0 MONDO:0017741 "disorder of protein O-glycosylation" 1 3 0 0 0 1 @@ -23739,11 +23762,11 @@ MONDO:0022734 "chorioretinopathy dominant form microcephaly" 0 1 0 0 0 0 MONDO:0020777 "congenital disorder of glycosylation with defective fucosylation 2" 0 1 0 0 0 0 MONDO:0009178 "epidermolysis bullosa dystrophica Neurotrophica" 0 4 0 0 0 0 GO:0051459 "regulation of corticotropin secretion" 1 0 0 0 0 1 -MONDO:0001494 "obsolete transvestism" 1 8 0 0 0 0 +MONDO:0001494 "obsolete transvestism" 1 6 0 0 0 0 MONDO:0014556 "congenital contractures of the limbs and face, hypotonia, and developmental delay" 0 3 0 0 0 0 MONDO:0011969 "ALG8-CDG" 1 8 0 0 0 0 MONDO:0000276 "Powassan encephalitis" 1 5 0 0 0 1 -MONDO:0002263 "female reproductive system disorder" 1 5 0 0 0 1 +MONDO:0002263 "female reproductive system disorder" 1 6 0 0 0 1 ENVO:01001679 "fluid front"@en 1 0 0 0 0 0 GO:0060055 "angiogenesis involved in wound healing" 1 0 0 0 0 1 UBERON:0000477 "anatomical cluster" 0 0 0 0 0 0 @@ -23768,13 +23791,13 @@ MONDO:0013347 "obsolete gastric cancer" 0 0 0 0 0 0 MONDO:0011732 "familial digital arthropathy-brachydactyly" 1 5 0 0 0 0 UBERON:0002089 "thoracodorsal vein" 0 0 0 0 0 1 MONDO:0003154 "hemangioma of peripheral nerve" 1 3 0 0 0 1 -MONDO:0021002 "syndactyly" 1 17 0 0 0 1 +MONDO:0021002 "syndactyly" 1 10 0 0 0 1 MONDO:0019709 "obsolete cleidocranial dysplasia and isolated cranial ossification defect" 0 1 0 0 0 0 MONDO:0014735 "Charcot-Marie-Tooth disease type 2Y" 1 5 0 0 0 1 http://identifiers.org/hgnc/13273 "DUOX2" 0 0 0 0 0 0 -MONDO:0008831 "asphyxiating thoracic dystrophy 1" 1 6 0 0 0 0 +MONDO:0008831 "asphyxiating thoracic dystrophy 1" 1 5 0 0 0 0 MONDO:0020755 "obsolete heart block" 0 1 0 0 0 0 -MONDO:0002889 "orbital cancer" 1 7 0 0 0 1 +MONDO:0002889 "orbital cancer" 1 6 0 0 0 1 MONDO:0003601 "mediastinum liposarcoma" 1 3 0 0 0 1 CHEBI:16874 "psychosine" 1 0 0 0 0 0 MONDO:0013432 "Meier-Gorlin syndrome 5" 1 4 0 0 0 1 @@ -23787,7 +23810,7 @@ http://identifiers.org/hgnc/7029 "MET" 0 0 0 0 0 0 http://identifiers.org/hgnc/3508 "EWSR1" 0 0 0 0 0 0 MONDO:0000151 "symphalangism" 0 1 0 0 0 0 ECTO:0001057 "exposure to decreased temperature" 1 0 0 0 0 1 -MONDO:0016064 "cleft palate" 1 17 0 0 0 0 +MONDO:0016064 "cleft palate" 1 16 0 0 0 0 GO:0008607 "phosphorylase kinase regulator activity" 1 0 0 0 0 1 CL:0002676 "neural crest derived neuroblast" 1 0 0 0 0 0 MONDO:0005060 "liposarcoma" 1 14 0 0 0 1 @@ -23840,7 +23863,7 @@ CHEBI:85638 "haloacetate(1-)" 1 0 0 0 0 0 MONDO:0020775 "congenital disorder of glycosylation with defective fucosylation 1" 0 1 0 0 0 0 MONDO:0000164 "obsolete corneal dystrophy, Fuchs endothelial" 0 0 0 0 0 0 http://identifiers.org/hgnc/1323 "C4A" 0 0 0 0 0 0 -MONDO:0005512 "malignant peritoneal mesothelioma" 1 6 0 0 0 1 +MONDO:0005512 "malignant peritoneal mesothelioma" 1 5 0 0 0 1 MONDO:0002591 "obsolete dendritic cell thymoma" 0 0 0 0 0 0 MONDO:0020104 "obsolete rare constitutional hemolytic anemia due to an enzyme disorder" 0 2 0 0 0 0 MONDO:0019522 "recessive dystrophic epidermolysis bullosa-generalized other" 1 4 0 0 0 0 @@ -23883,7 +23906,7 @@ GO:0006941 "striated muscle contraction" 1 0 0 0 0 0 UBERON:0012314 "embryonic facial prominence" 0 0 0 0 0 0 UBERON:0018321 "foramen for glossopharyngeal nerve" 0 0 0 0 0 1 MONDO:0019302 "obsolete mucopolysaccharidosis with skin involvement" 0 0 0 0 0 0 -MONDO:0002432 "malignant neoplasm of acoustic nerve" 1 5 0 0 0 1 +MONDO:0002432 "malignant neoplasm of acoustic nerve" 1 4 0 0 0 1 CHR:9606-chr20 "chromosome 20 (Human)" 0 0 0 0 0 0 MONDO:0023000 "dobrow syndrome" 0 1 0 0 0 0 MONDO:0011651 "intellectual disability, short stature, facial anomalies, and joint dislocations" 0 3 0 0 0 0 @@ -23894,7 +23917,7 @@ MONDO:0018337 "severe neonatal lactic acidosis due to NFS1-ISD11 complex deficie http://identifiers.org/hgnc/30000 "BBS9" 0 0 0 0 0 0 MONDO:0013591 "epiphyseal dysplasia, multiple, 6" 1 5 0 0 0 1 GO:0050748 "negative regulation of lipoprotein metabolic process" 1 0 0 0 0 1 -MONDO:0003009 "hyperaldosteronism" 1 12 0 0 0 0 +MONDO:0003009 "hyperaldosteronism" 1 11 0 0 0 0 MONDO:0011403 "left ventricular noncompaction 1" 1 3 0 0 0 1 MONDO:0004973 "adenosquamous lung carcinoma" 1 7 0 0 0 1 MONDO:0013431 "Meier-Gorlin syndrome 4" 1 4 0 0 0 1 @@ -23902,9 +23925,9 @@ GO:0010324 "membrane invagination" 1 0 0 0 0 0 UBERON:0005015 "mucosa of prostatic urethra" 0 0 0 0 0 1 http://identifiers.org/hgnc/4166 "GAS8" 0 0 0 0 0 0 MONDO:0002979 "papillary squamous carcinoma" 1 4 0 0 0 1 -MONDO:0001910 "ochronosis disorder" 1 9 0 0 0 1 +MONDO:0001910 "ochronosis disorder" 1 8 0 0 0 1 CL:0000502 "type D enteroendocrine cell" 1 1 0 0 0 0 -MONDO:0001926 "ureteral disorder" 1 6 0 0 0 1 +MONDO:0001926 "ureteral disorder" 1 7 0 0 0 1 http://identifiers.org/hgnc/32940 "NKX2-6" 0 0 0 0 0 0 CHR:9606-chr9q34 "9q34 (Human)" 0 0 0 0 0 0 GO:0046326 "positive regulation of glucose import" 1 0 0 0 0 1 @@ -23921,7 +23944,7 @@ http://identifiers.org/hgnc/7623 "MYT1L" 0 0 0 0 0 0 MONDO:0016215 "spastic quadriplegic cerebral palsy" 1 15 0 0 0 0 http://identifiers.org/hgnc/321 "AGL" 0 0 0 0 0 0 GO:0006939 "smooth muscle contraction" 1 0 0 0 0 0 -MONDO:0008823 "arthrogryposis multiplex congenita 2, neurogenic type" 1 8 0 0 0 1 +MONDO:0008823 "arthrogryposis multiplex congenita 2, neurogenic type" 1 9 0 0 0 1 GO:0070130 "negative regulation of mitochondrial translation" 1 0 0 0 0 1 CHEBI:36685 "chlorocarboxylic acid" 1 0 0 0 0 0 MONDO:0023142 "fetal brain disruption sequence" 0 1 0 0 0 0 @@ -23944,6 +23967,7 @@ MONDO:0012756 "proximal 16p11.2 microdeletion syndrome" 1 10 0 0 0 0 GO:0005743 "mitochondrial inner membrane" 1 0 0 0 0 0 MONDO:0000489 "diabetic encephalopathy" 1 1 0 0 0 1 HP:0001879 "Abnormal eosinophil morphology" 1 1 0 0 0 0 +MONDO:0007331 "obsolete cleft chin" 0 1 0 0 0 0 MONDO:0014511 "Charcot-Marie-Tooth disease axonal type 2S" 1 5 0 0 0 1 MONDO:0018867 "obsolete maple syrup urine disease" 0 0 0 0 0 0 CHEBI:72813 "exopolysaccharide" 1 0 0 0 0 0 @@ -23974,8 +23998,8 @@ MONDO:0020528 "ACTH-dependent Cushing syndrome" 1 9 0 0 0 1 UBERON:0002466 "intestine secretion" 0 0 0 0 0 1 MONDO:0006902 "obsolete periventricular leukomalacia" 0 0 0 0 0 0 UBERON:0036263 "supraglottic part of larynx" 0 0 0 0 0 0 -MONDO:0011893 "autosomal dominant nonsyndromic hearing loss 52" 1 6 0 0 0 0 -MONDO:0011074 "autosomal dominant nonsyndromic hearing loss 7" 1 5 0 0 0 0 +MONDO:0011893 "autosomal dominant nonsyndromic hearing loss 52" 1 5 0 0 0 0 +MONDO:0011074 "autosomal dominant nonsyndromic hearing loss 7" 1 4 0 0 0 0 MONDO:0021273 "leiomyoma of ciliary body" 1 4 0 0 0 1 UBERON:0003537 "left lung alveolar duct" 0 0 0 0 0 1 MONDO:0013003 "isolated congenital hypoglossia/aglossia" 1 4 0 0 0 0 @@ -23992,7 +24016,7 @@ MONDO:0005645 "ancylostomiasis" 1 16 0 0 0 1 MONDO:0700064 "aneuploidy" 1 1 0 0 0 1 HP:0000095 "Abnormal renal glomerulus morphology" 1 1 0 0 0 0 MONDO:0010265 "Simpson-Golabi-Behmel syndrome type 2" 1 6 0 0 0 1 -MONDO:0024575 "pregnancy disorder" 1 3 0 0 0 0 +MONDO:0024575 "pregnancy disorder" 1 6 0 0 0 0 MONDO:0013120 "46,XY sex reversal 5" 0 5 0 0 0 0 MONDO:0015803 "wound botulism" 1 8 0 0 0 0 GO:0004555 "alpha,alpha-trehalase activity" 1 0 0 0 0 0 @@ -24011,19 +24035,19 @@ MONDO:0006046 "ovarian serous cystadenocarcinoma" 1 4 0 0 0 1 MONDO:0020294 "atrial defect and interatrial communication" 0 2 0 0 0 0 http://identifiers.org/hgnc/6180 "ITPR1" 0 0 0 0 0 0 MONDO:0023303 "obsolete Hamanishi-Ueba-Tsuji syndrome" 0 0 0 0 0 0 -MONDO:0020555 "pleuropulmonary blastoma type 1" 1 10 0 0 0 0 +MONDO:0020555 "pleuropulmonary blastoma type 1" 1 5 0 0 0 0 http://identifiers.org/hgnc/23399 "FREM1" 0 0 0 0 0 0 -MONDO:0020556 "pleuropulmonary blastoma type 2" 1 10 0 0 0 0 +MONDO:0020556 "pleuropulmonary blastoma type 2" 1 5 0 0 0 0 MONDO:0012453 "hereditary spastic paraplegia 31" 1 8 0 0 0 1 MONDO:0100012 "paratenonitis" 1 0 0 0 0 0 MONDO:0006491 "vulvar lichen sclerosus" 1 4 0 0 0 1 UBERON:0004809 "salivary gland epithelium" 0 0 0 0 0 1 MONDO:0013302 "nephronophthisis 11" 1 4 0 0 0 1 -MONDO:0019678 "brachydactyly type A5" 1 6 0 0 0 0 +MONDO:0019678 "brachydactyly type A5" 1 7 0 0 0 0 MONDO:0020681 "Ehlers-Danlos syndrome, musculocontractural type 1" 0 2 0 0 0 1 UBERON:0019198 "dorsal nerve of clitoris" 0 0 0 0 0 1 MONDO:0013927 "peroxisome biogenesis disorder 3A (Zellweger)" 0 6 0 0 0 0 -MONDO:0011429 "juvenile idiopathic arthritis" 1 20 0 0 0 0 +MONDO:0011429 "juvenile idiopathic arthritis" 1 19 0 0 0 0 MONDO:0004834 "ischemic fasciitis" 1 4 0 0 0 0 MONDO:0030490 "oocyte maturation defect 11" 0 1 0 0 0 0 MONDO:0008193 "paralysis agitans, juvenile, of Hunt" 0 6 0 0 0 0 @@ -24031,24 +24055,24 @@ MONDO:0043653 "herpes labialis" 1 5 0 0 0 1 GO:0050867 "positive regulation of cell activation" 1 0 0 0 0 1 NCBITaxon:197562 "Pancrustacea" 0 3 0 0 0 0 NCBITaxon:41191 "Glossata" 0 1 0 0 0 0 -MONDO:0000946 "psychologic vaginismus" 1 5 0 0 0 0 +MONDO:0000946 "psychologic vaginismus" 1 4 0 0 0 0 GO:0051346 "negative regulation of hydrolase activity" 1 0 0 0 0 1 http://identifiers.org/hgnc/336 "AGTR1" 0 0 0 0 0 0 http://identifiers.org/hgnc/16406 "EFHC1" 0 0 0 0 0 0 http://identifiers.org/hgnc/16356 "USH1G" 0 0 0 0 0 0 -MONDO:0007040 "Sakati-Nyhan syndrome" 1 8 0 0 0 0 +MONDO:0007040 "Sakati-Nyhan syndrome" 1 7 0 0 0 0 MONDO:0010203 "intellectual disability, Wolff type" 1 5 0 0 0 0 -MONDO:0010619 "X-linked dominant hypophosphatemic rickets" 1 8 0 0 0 1 -MONDO:0006030 "chronic cystitis" 1 7 0 0 0 1 +MONDO:0010619 "X-linked dominant hypophosphatemic rickets" 1 7 0 0 0 1 +MONDO:0006030 "chronic cystitis" 1 6 0 0 0 1 MONDO:0024415 "hemorrhagic duodenitis" 0 3 0 0 0 1 GO:0043462 "regulation of ATPase activity" 1 0 0 0 0 1 -MONDO:0004904 "toxic maculopathy" 0 5 0 0 0 0 +MONDO:0004904 "toxic maculopathy" 0 4 0 0 0 0 MONDO:0009865 "glycogen storage disease due to phosphoglycerate mutase deficiency" 1 7 0 0 0 1 MONDO:0022769 "ciliary dyskinesia-bronchiectasis" 0 1 0 0 0 0 MONDO:0011928 "caudal duplication" 1 7 0 0 0 0 NCBITaxon:62324 "Anopheles funestus" 0 1 0 0 0 0 MONDO:0007910 "lipoprotein types--Lt system" 0 2 0 0 0 0 -MONDO:0002046 "alcohol abuse" 1 8 0 0 0 1 +MONDO:0002046 "alcohol abuse" 1 7 0 0 0 1 MONDO:0007618 "Eng-Strom syndrome" 1 4 0 0 0 0 GO:2000737 "negative regulation of stem cell differentiation" 1 0 0 0 0 1 MONDO:0015582 "obsolete rare disorder related with pregnancy, childbirth and puerperium" 1 2 0 0 0 0 @@ -24102,7 +24126,7 @@ MONDO:0011232 "migraine, familial hemiplegic, 2" 1 5 0 0 0 1 MONDO:0014602 "intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome" 1 4 0 0 0 0 MONDO:0010587 "epidermodysplasia verruciformis, X-linked" 1 4 0 0 0 1 HP:0002098 "Respiratory distress" 1 6 0 0 0 0 -MONDO:0004619 "measles" 1 10 0 0 0 1 +MONDO:0004619 "measles" 1 9 0 0 0 1 MONDO:0016624 "inherited deficiency anemia" 0 1 0 0 0 1 MONDO:0017357 "transient hyperammonemia of the newborn" 0 3 0 0 0 0 UBERON:0001975 "serosa of esophagus" 0 0 0 0 0 1 @@ -24110,7 +24134,7 @@ GO:0045581 "negative regulation of T cell differentiation" 1 0 0 0 0 1 MONDO:0024639 "gastric enterochromaffin cell serotonin-producing neuroendocrine tumor" 1 2 0 0 0 0 MONDO:0006888 "paraneoplastic polyneuropathy" 1 8 0 0 0 1 MONDO:0019790 "neuroleptic malignant syndrome" 1 11 0 0 0 0 -MONDO:0011058 "autosomal dominant nonsyndromic hearing loss 9" 1 5 0 0 0 1 +MONDO:0011058 "autosomal dominant nonsyndromic hearing loss 9" 1 4 0 0 0 1 MONDO:0001686 "anatomical narrow angle borderline glaucoma" 0 2 0 0 0 0 MONDO:0006912 "pneumatosis cystoides intestinalis" 1 8 0 0 0 0 NCBITaxon:46682 "Heterakoidea" 0 1 0 0 0 0 @@ -24135,7 +24159,7 @@ CHEBI:51151 "dipolar compound" 1 0 0 0 0 0 MONDO:0012318 "leukemia, chronic lymphocytic, susceptibility to, 1" 0 2 0 0 0 0 MONDO:0020273 "obsolete disease with potential neoplastic degeneration associated with ocular features" 0 2 0 0 0 0 MONDO:0017391 "Grayson-Wilbrandt corneal dystrophy" 1 3 0 0 0 0 -MONDO:0020479 "pituitary gigantism" 1 8 0 0 0 0 +MONDO:0020479 "pituitary gigantism" 1 7 0 0 0 0 MONDO:0021514 "benign neoplasm of pericardium" 1 3 0 0 0 1 MONDO:0004056 "bladder papillary urothelial carcinoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/8794 "PDE8B" 0 0 0 0 0 0 @@ -24155,11 +24179,11 @@ GO:0060322 "head development" 1 0 0 0 0 0 MONDO:0013797 "chromosome 17q12 deletion syndrome" 1 8 0 0 0 1 UBERON:0001756 "middle ear" 0 0 0 0 0 0 MONDO:0018939 "muscle-eye-brain disease" 1 13 0 0 0 0 -MONDO:0013495 "autosomal recessive congenital ichthyosis 8" 1 4 0 0 0 1 +MONDO:0013495 "autosomal recessive congenital ichthyosis 8" 1 3 0 0 0 1 HP:0032016 "Abnormal sputum" 1 0 0 0 0 0 MONDO:0000380 "paranasal sinus carcinoma" 1 5 0 0 0 1 MONDO:0001771 "infective urethral stricture" 0 5 0 0 0 1 -MONDO:0017307 "disorder of tyrosine metabolism" 0 5 0 0 0 1 +MONDO:0017307 "disorder of tyrosine metabolism" 0 4 0 0 0 1 MONDO:0015420 "cleft lip and alveolus" 1 15 0 0 0 0 MONDO:0017916 "pure or complex X-linked spastic paraplegia" 0 2 0 0 0 0 UBERON:0001727 "taste bud" 0 0 0 0 0 0 @@ -24186,13 +24210,13 @@ NCBITaxon:8016 "Oncorhynchus" 0 1 0 0 0 0 MONDO:0037847 "vertebral joint disorder" 1 1 0 0 0 1 MONDO:0007511 "ectodermal dysplasia, trichoodontoonychial type" 1 7 0 0 0 0 NCBITaxon:5855 "Plasmodium vivax" 0 1 0 0 0 0 -MONDO:0002103 "factitious disorder" 1 7 0 0 0 0 +MONDO:0002103 "factitious disorder" 1 6 0 0 0 0 UBERON:0002116 "ileum" 0 0 0 0 0 0 MONDO:0009115 "congenital lactase deficiency" 1 8 0 0 0 1 NCBITaxon:1496 "Clostridioides difficile" 0 4 0 0 0 0 MONDO:0032873 "retinitis pigmentosa 87 with choroidal involvement" 0 1 0 0 0 0 MONDO:0002217 "central nervous system sarcoma" 1 3 0 0 0 1 -MONDO:0020557 "pleuropulmonary blastoma type 3" 1 10 0 0 0 0 +MONDO:0020557 "pleuropulmonary blastoma type 3" 1 5 0 0 0 0 MONDO:0043777 "rhinophyma" 1 4 0 0 0 0 http://identifiers.org/hgnc/4170 "GATA1" 0 0 0 0 0 0 MONDO:0007779 "autosomal dominant Opitz G/BBB syndrome" 1 4 0 0 0 1 @@ -24230,7 +24254,7 @@ MONDO:0044705 "paranasal sinus squamous cell carcinoma" 1 3 0 0 0 1 MONDO:0011113 "Charcot-Marie-Tooth disease type 4C" 1 9 0 0 0 1 CL:0001065 "innate lymphoid cell" 1 0 0 0 0 0 UBERON:0013630 "short bone" 0 0 0 0 0 0 -MONDO:0013911 "hypogonadotropic hypogonadism 9 with or without anosmia" 1 4 0 0 0 1 +MONDO:0013911 "hypogonadotropic hypogonadism 9 with or without anosmia" 1 3 0 0 0 1 http://identifiers.org/hgnc/6912 "MATR3" 0 0 0 0 0 0 MONDO:0017234 "inherited prion disease" 1 3 0 0 0 1 MONDO:0002840 "eosinophilic gastritis" 1 7 0 0 0 0 @@ -24260,14 +24284,14 @@ MONDO:0018692 "variably protease-sensitive prionopathy" 0 4 0 0 0 0 MONDO:0015522 "situs ambiguus" 0 5 0 0 0 0 MONDO:0017289 "fetal lung interstitial tumor" 0 2 0 0 0 0 GO:1900005 "positive regulation of serine-type endopeptidase activity" 1 0 0 0 0 1 -MONDO:0004359 "delusional disorder" 1 6 0 0 0 0 +MONDO:0004359 "delusional disorder" 1 5 0 0 0 0 MONDO:0005051 "invasive lobular breast carcinoma" 1 8 0 0 0 1 http://identifiers.org/hgnc/9986 "RFX5" 0 0 0 0 0 0 MONDO:0009480 "Joubert syndrome with oculorenal defect" 1 13 0 0 0 0 http://identifiers.org/hgnc/27365 "TECRL" 0 0 0 0 0 0 MONDO:0010306 "X-linked intellectual disability, Cabezas type" 1 8 0 0 0 0 ECTO:9000107 "exposure to solvent" 1 0 0 0 0 1 -MONDO:0006666 "atrophy of thyroid" 1 7 0 0 0 0 +MONDO:0006666 "atrophy of thyroid" 1 6 0 0 0 0 http://identifiers.org/hgnc/7583 "MYL2" 0 0 0 0 0 0 MONDO:0008652 "congenital vertical talus" 1 9 0 0 0 0 UBERON:0002236 "costal cartilage" 0 0 0 0 0 0 @@ -24284,7 +24308,7 @@ http://identifiers.org/hgnc/7494 "MT-TP" 0 0 0 0 0 0 http://identifiers.org/hgnc/7495 "MT-TQ" 0 0 0 0 0 0 MONDO:0019808 "aortic valve atresia" 1 6 0 0 0 0 MONDO:0017171 "mucopolysaccharidosis type 6, rapidly progressing" 0 3 0 0 0 0 -MONDO:0001156 "borderline personality disorder" 1 7 0 0 0 0 +MONDO:0001156 "borderline personality disorder" 1 6 0 0 0 0 http://identifiers.org/hgnc/5318 "TNC" 0 0 0 0 0 0 MONDO:0027676 "congenital anomalies of kidney and urinary tract 2" 1 2 0 0 0 1 MONDO:0043953 "burkholderia infectious disease" 1 3 0 0 0 1 @@ -24299,7 +24323,7 @@ MONDO:0700061 "mosaic vs complete" 1 0 0 0 0 0 MONDO:0010375 "developmental and epileptic encephalopathy, 8" 0 6 0 0 0 0 MONDO:0003078 "extraocular retinoblastoma" 1 3 0 0 0 0 http://identifiers.org/hgnc/11773 "TGFBR2" 0 0 0 0 0 0 -MONDO:0001965 "sclerosing keratitis" 0 5 0 0 0 0 +MONDO:0001965 "sclerosing keratitis" 0 4 0 0 0 0 MONDO:0005883 "ophthalmic herpes zoster" 1 6 0 0 0 0 http://identifiers.org/hgnc/87 "ACAD8" 0 0 0 0 0 0 MONDO:0014938 "aniridia 3" 1 1 0 0 0 1 @@ -24308,7 +24332,7 @@ MONDO:0014937 "aniridia 2" 0 3 0 0 0 0 MONDO:0019628 "Rieger anomaly" 1 6 0 0 0 0 MONDO:0019389 "obsolete X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome" 0 3 0 0 0 0 MONDO:0005043 "hyperplasia" 1 3 0 0 0 0 -MONDO:0001658 "nontoxic goiter" 1 5 0 0 0 0 +MONDO:0001658 "nontoxic goiter" 1 3 0 0 0 0 MONDO:0010143 "lethal restrictive dermopathy" 1 8 0 0 0 0 MONDO:0002677 "conventional fibrosarcoma" 1 3 0 0 0 0 MONDO:0011936 "microphthalmia with brain and digit anomalies" 1 8 0 0 0 0 @@ -24363,7 +24387,7 @@ MONDO:0012617 "intellectual disability, autosomal recessive 9" 0 4 0 0 0 0 GO:0051198 "obsolete negative regulation of coenzyme metabolic process" 1 0 0 0 0 0 GO:0042113 "B cell activation" 1 0 0 0 0 0 MONDO:0003209 "thymus gland adenocarcinoma" 1 3 0 0 0 1 -MONDO:0005090 "schizophrenia" 1 14 0 0 0 0 +MONDO:0005090 "schizophrenia" 1 15 0 0 0 0 MONDO:0006110 "obsolete bladder adenocarcinoma" 0 0 0 0 0 0 GO:0003411 "cell motility involved in camera-type eye morphogenesis" 1 0 0 0 0 1 HP:0001660 "Truncus arteriosus" 1 7 0 0 0 0 @@ -24390,10 +24414,10 @@ MONDO:0016916 "obsolete partial deletion of the long arm of chromosome 18" 0 0 0 GO:0015696 "ammonium transport" 1 0 0 0 0 0 MONDO:0013029 "cerebellar ataxia type 9" 0 4 0 0 0 0 MONDO:0019794 "autosomal dominant cerebellar ataxia type IV" 0 3 0 0 0 0 +MONDO:0020745 "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome" 0 2 0 0 0 0 MONDO:0016577 "biliary atresia with splenic malformation syndrome" 1 5 0 0 0 0 MONDO:0012689 "premature ovarian failure 5" 1 3 0 0 0 1 CL:2000057 "femural osteoblast" 1 0 0 0 0 1 -MONDO:0006588 "nonepidermolytic palmoplantar keratoderma" 1 10 0 0 0 0 MONDO:0008913 "cardiac valvular defect, developmental" 0 4 0 0 0 0 MONDO:0006852 "obsolete meningococcal meningitis" 0 0 0 0 0 0 MONDO:0009481 "Jumping Frenchmen of Maine" 0 2 0 0 0 0 @@ -24429,7 +24453,7 @@ MONDO:0008482 "Sprengel deformity" 0 8 0 0 0 0 MONDO:0012619 "intellectual disability, autosomal recessive 11" 0 4 0 0 0 0 MONDO:0001952 "parietal lobe cancer" 1 8 0 0 0 1 MONDO:0004888 "partial circumpapillary choroid dystrophy" 0 4 0 0 0 0 -MONDO:0001310 "Bowman's membrane folds or rupture" 0 5 0 0 0 0 +MONDO:0001310 "Bowman's membrane folds or rupture" 0 4 0 0 0 0 MONDO:0021066 "urinary system neoplasm" 1 4 0 0 0 1 MONDO:0007430 "dens evaginatus" 0 2 0 0 0 0 MONDO:0100401 "acute myeloid leukemia, del(5q31-q32)" 1 1 0 0 0 0 @@ -24454,7 +24478,7 @@ GO:0016595 "glutamate binding" 1 0 0 0 0 0 MONDO:0009269 "geleophysic dysplasia 1" 1 4 0 0 0 1 UBERON:0010273 "zone of hyoid bone" 0 0 0 0 0 1 MONDO:0009155 "EEM syndrome" 1 7 0 0 0 0 -MONDO:0000747 "obsolete umbilical hernia" 1 9 0 0 0 0 +MONDO:0000747 "obsolete umbilical hernia" 1 8 0 0 0 0 UBERON:0003532 "hindlimb skin" 0 0 0 0 0 1 MONDO:0006118 "breast fibrosis" 1 7 0 0 0 0 MONDO:0009372 "encephalopathy due to hydroxykynureninuria" 1 8 0 0 0 0 @@ -24478,7 +24502,7 @@ MONDO:0004532 "auditory system cancer" 1 1 0 0 0 1 MONDO:0033613 "neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities" 0 6 0 0 0 0 MONDO:0016434 "acquired dermis elastic tissue disorder" 1 2 0 0 0 1 MONDO:0009649 "moyamoya disease 1" 0 4 0 0 0 0 -MONDO:0004587 "hereditary night blindness" 1 4 0 0 0 1 +MONDO:0004587 "hereditary night blindness" 1 3 0 0 0 1 UBERON:0001032 "sensory system" 0 0 0 0 0 0 UBERON:0034875 "future pituitary gland" 0 0 0 0 0 1 MONDO:0030900 "intellectual developmental disorder with paroxysmal dyskinesia or seizures" 0 1 0 0 0 0 @@ -24488,7 +24512,7 @@ http://identifiers.org/hgnc/4331 "GLS" 0 0 0 0 0 0 ECTO:9001687 "exposure to micronutrient" 1 0 0 0 0 1 MONDO:0003806 "thyroid hyalinizing trabecular adenoma" 1 6 0 0 0 0 GO:0050975 "sensory perception of touch" 1 0 0 0 0 0 -MONDO:0004804 "dacryoadenitis" 1 9 0 0 0 1 +MONDO:0004804 "dacryoadenitis" 1 7 0 0 0 1 MONDO:0013384 "Hirschsprung disease, susceptibility to, 4" 1 2 0 0 0 1 MONDO:0005984 "tinea pedis" 1 7 0 0 0 1 UBERON:0015813 "middle ear epithelium" 0 0 0 0 0 1 @@ -24499,7 +24523,7 @@ MONDO:0018076 "tuberculosis" 1 15 0 0 0 1 GO:0030097 "hemopoiesis" 1 0 0 0 0 0 MONDO:0002248 "obsolete myeloproliferative neoplasm" 0 0 0 0 0 0 UBERON:0013748 "ulnar metaphysis" 0 0 0 0 0 1 -MONDO:0001682 "diphtheritic peritonitis" 1 5 0 0 0 0 +MONDO:0001682 "diphtheritic peritonitis" 1 4 0 0 0 0 UBERON:0008883 "osteoid" 0 0 0 0 0 0 GO:0035936 "testosterone secretion" 1 0 0 0 0 0 HP:0003272 "Abnormal hip bone morphology" 1 1 0 0 0 0 @@ -24511,7 +24535,7 @@ MONDO:0015955 "obsolete rare genetic epilepsy" 1 2 0 0 0 0 CL:0000988 "hematopoietic cell" 1 4 0 0 0 0 MONDO:0009009 "hypoplasminogenemia" 1 8 0 0 0 0 MONDO:0001873 "geniculate ganglionitis" 1 6 0 0 0 1 -MONDO:0004974 "adrenal gland pheochromocytoma" 1 5 0 0 0 0 +MONDO:0004974 "adrenal gland pheochromocytoma" 1 4 0 0 0 0 MONDO:0000225 "human monocytic ehrlichiosis" 1 5 0 0 0 1 MONDO:0021075 "neoplastic polyp" 0 2 0 0 0 0 NCBITaxon:1350 "Enterococcus" 0 3 0 0 0 0 @@ -24556,7 +24580,7 @@ MONDO:0017659 "sporadic hyperekplexia" 0 2 0 0 0 0 MONDO:0002533 "papillary adenoma" 1 4 0 0 0 1 MONDO:0003616 "salpingitis isthmica nodosa" 1 4 0 0 0 0 GO:0097186 "amelogenesis" 1 0 0 0 0 0 -MONDO:0006966 "secondary Parkinson disease" 1 9 0 0 0 0 +MONDO:0006966 "secondary Parkinson disease" 1 7 0 0 0 0 MONDO:0010165 "ulna hypoplasia-intellectual disability syndrome" 1 7 0 0 0 0 MONDO:0004109 "epiglottis neoplasm" 1 4 0 0 0 1 MONDO:0021745 "psychosocial short stature" 1 4 0 0 0 0 @@ -24568,7 +24592,6 @@ MONDO:0032850 "neurooculocardiogenitourinary syndrome" 0 2 0 0 0 0 http://identifiers.org/hgnc/23044 "NANOS1" 0 0 0 0 0 0 GO:0051098 "regulation of binding" 1 0 0 0 0 1 MONDO:0012623 "intellectual disability, autosomal recessive 4" 0 3 0 0 0 0 -MONDO:0020062 "chromosome X structural anomaly" 0 2 0 0 0 0 UBERON:0003635 "pedal digit 5" 0 0 0 0 0 1 GO:0016331 "morphogenesis of embryonic epithelium" 1 0 0 0 0 0 MONDO:0007760 "hyperlipoproteinemia, type II, and deafness" 0 3 0 0 0 0 @@ -24579,7 +24602,7 @@ MONDO:0001675 "obsolete porphyria" 0 0 0 0 0 0 MONDO:0013751 "cutis laxa, autosomal dominant 2" 1 3 0 0 0 1 MONDO:0013983 "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive" 0 5 0 0 0 0 CL:0002144 "capillary endothelial cell" 1 3 0 0 0 1 -MONDO:0005297 "urethritis" 1 9 0 0 0 1 +MONDO:0005297 "urethritis" 1 8 0 0 0 1 http://identifiers.org/hgnc/89 "ACADM" 0 0 0 0 0 0 GO:0150073 "regulation of protein-glutamine gamma-glutamyltransferase activity" 1 0 0 0 0 1 NCIT:C25218 "Intervention or Procedure" 0 0 0 0 0 0 @@ -24588,7 +24611,7 @@ MONDO:0010315 "T-B+ severe combined immunodeficiency due to gamma chain deficien UBERON:0012468 "anal tooth" 0 0 0 0 0 1 GO:0008373 "sialyltransferase activity" 1 0 0 0 0 0 MONDO:0007776 "hypersensitivity pneumonitis, familial" 1 3 0 0 0 1 -MONDO:0016608 "megalencephaly" 1 9 0 0 0 0 +MONDO:0016608 "megalencephaly" 1 8 0 0 0 0 CHR:9606-chr17q "17q (Human)" 0 0 0 0 0 0 GO:0100002 "negative regulation of protein kinase activity by protein phosphorylation" 1 0 0 0 0 1 CHEBI:25362 "elemental molecule" 1 0 0 0 0 0 @@ -24615,7 +24638,7 @@ MONDO:0016340 "familial restrictive cardiomyopathy" 1 4 0 0 0 1 CHEBI:33842 "aromatic annulene" 0 0 0 0 0 0 MONDO:0044778 "nodular lymphocyte predominant Hodgkin lymphoma" 1 6 0 0 0 0 NCBITaxon:1783272 "Terrabacteria group" 0 3 0 0 0 0 -MONDO:0002933 "osteosclerosis" 1 6 0 0 0 0 +MONDO:0002933 "osteosclerosis" 1 5 0 0 0 0 UBERON:0004867 "orbital cavity" 0 0 0 0 0 1 UBERON:0000086 "zona pellucida" 0 0 0 0 0 0 MONDO:0009217 "Fanconi-like syndrome" 1 5 0 0 0 0 @@ -24630,7 +24653,7 @@ http://identifiers.org/hgnc/18318 "ASXL1" 0 0 0 0 0 0 UBERON:0007243 "tunica media of vein" 0 0 0 0 0 1 MONDO:0040677 "invasive carcinoma" 1 2 0 0 0 1 HP:0007957 "Corneal opacity" 1 6 0 0 0 0 -MONDO:0009891 "acquired polycythemia vera" 1 13 0 0 0 0 +MONDO:0009891 "acquired polycythemia vera" 1 14 0 0 0 0 MONDO:0021424 "hemangiopericytoma of skin" 1 3 0 0 0 1 http://identifiers.org/hgnc/3157 "EDA" 0 0 0 0 0 0 NCBITaxon:745 "Pasteurella" 0 2 0 0 0 0 @@ -24639,7 +24662,7 @@ UBERON:0001230 "glomerular capsule" 0 0 0 0 0 0 MONDO:0008266 "polydactyly, postaxial, type A1" 0 3 0 0 0 0 MONDO:0010890 "acrocardiofacial syndrome" 1 6 0 0 0 0 MONDO:0015085 "bathing suit ichthyosis" 1 5 0 0 0 0 -MONDO:0005631 "actinomycosis" 1 17 0 0 0 1 +MONDO:0005631 "actinomycosis" 1 15 0 0 0 1 MONDO:0016172 "acquired sensory ganglionopathy" 1 1 0 0 0 1 MONDO:0010928 "dwarfism, familial, with muscle spasms" 0 4 0 0 0 0 MONDO:0016489 "delta-beta-thalassemia" 1 8 0 0 0 0 @@ -24667,14 +24690,14 @@ http://identifiers.org/hgnc/4806 "HAL" 0 0 0 0 0 0 MONDO:0009812 "osteomalacia, sclerosing, with cerebral calcification" 0 3 0 0 0 0 MONDO:0014942 "developmental and epileptic encephalopathy, 45" 1 3 0 0 0 1 MONDO:0014452 "familial dysfibrinogenemia" 1 11 0 0 0 0 -MONDO:0010328 "alpha-thalassemia-myelodysplastic syndrome" 1 8 0 0 0 0 +MONDO:0010328 "alpha-thalassemia-myelodysplastic syndrome" 1 7 0 0 0 0 MONDO:0020032 "obsolete rare urinary tract tumor" 1 2 0 0 0 0 MONDO:0010413 "intellectual disability, X-linked 95" 0 4 0 0 0 0 ENVO:01001691 "mass of compounded environmental materials"@en 1 0 0 0 0 1 GO:2000252 "negative regulation of feeding behavior" 1 0 0 0 0 1 http://identifiers.org/hgnc/8785 "PDE6A" 0 0 0 0 0 0 UBERON:0003836 "abdominal segment skin" 0 0 0 0 0 1 -MONDO:0008740 "agnathia-otocephaly complex" 1 10 0 0 0 0 +MONDO:0008740 "agnathia-otocephaly complex" 1 9 0 0 0 0 http://identifiers.org/hgnc/8787 "PDE6C" 0 0 0 0 0 0 MONDO:0019839 "panhypophysitis" 0 2 0 0 0 0 CHR:9606-chr15q14 "15q14 (Human)" 0 0 0 0 0 0 @@ -24684,7 +24707,7 @@ MONDO:0016402 "obsolete mitochondrial disease with epilepsy" 0 2 0 0 0 0 UBERON:0011137 "axial skeletal system" 0 0 0 0 0 0 http://identifiers.org/hgnc/10588 "SCN2A" 0 0 0 0 0 0 MONDO:0024876 "tendon sheath disorder" 1 3 0 0 0 1 -MONDO:0010963 "autosomal dominant nonsyndromic hearing loss 6" 1 6 0 0 0 1 +MONDO:0010963 "autosomal dominant nonsyndromic hearing loss 6" 1 5 0 0 0 1 MONDO:0017611 "pituitary tumor" 1 5 0 0 0 1 MONDO:0024464 "pituitary hormone deficiency, combined, 1" 1 5 0 0 0 1 GO:0035227 "regulation of glutamate-cysteine ligase activity" 1 0 0 0 0 1 @@ -24695,7 +24718,7 @@ UBERON:0006246 "humerus pre-cartilage condensation" 0 0 0 0 0 1 MONDO:0032904 "corneal dystrophy, Meesmann, 2" 0 1 0 0 0 0 MONDO:0016377 "Pitt-Hopkins-like syndrome" 1 5 0 0 0 0 MONDO:0001324 "hyperandrogenism" 1 5 0 0 0 1 -MONDO:0006012 "viral pneumonia" 1 9 0 0 0 1 +MONDO:0006012 "viral pneumonia" 1 8 0 0 0 1 http://identifiers.org/hgnc/8800 "PDGFB" 0 0 0 0 0 0 GO:0009311 "oligosaccharide metabolic process" 1 0 0 0 0 0 MONDO:0030841 "mismatch repair cancer syndrome 3" 0 1 0 0 0 0 @@ -24711,9 +24734,9 @@ UBERON:0010528 "pneumatic cavity of bone" 0 0 0 0 0 0 http://identifiers.org/hgnc/12843 "YME1L1" 0 0 0 0 0 0 MONDO:0011204 "obsolete cerebellar degeneration-related autoantigen 3" 0 1 0 0 0 0 UBERON:0014382 "collection of hairs on head or neck" 0 0 0 0 0 1 -MONDO:0023696 "Marinesco-Sjogren-like syndrome" 1 3 0 0 0 0 -MONDO:0014706 "cutis laxa, autosomal dominant 3" 1 4 0 0 0 1 -MONDO:0007955 "Meckel diverticulum" 1 9 0 0 0 0 +MONDO:0023696 "Marinesco-Sjogren-like syndrome" 1 4 0 0 0 0 +MONDO:0014706 "cutis laxa, autosomal dominant 3" 1 3 0 0 0 1 +MONDO:0007955 "Meckel diverticulum" 1 8 0 0 0 0 MONDO:0014717 "early-onset Lafora body disease" 1 7 0 0 0 0 http://identifiers.org/hgnc/6211 "ANOS1" 0 0 0 0 0 0 MONDO:0018280 "muscle-eye-brain disease with bilateral multicystic leucodystrophy" 1 3 0 0 0 0 @@ -24735,12 +24758,12 @@ CHEBI:30742 "ethylene glycol" 1 0 0 0 0 0 MONDO:0010673 "modifier, X-linked, for Neurofunctional defects" 0 3 0 0 0 0 MFOMD:0000119 "dissociation"@en 1 0 0 0 0 0 MONDO:0044246 "obsolete nystagmus, voluntary" 1 1 0 0 0 0 -MONDO:0001909 "renal tubular acidosis" 1 11 0 0 0 1 +MONDO:0001909 "renal tubular acidosis" 1 10 0 0 0 1 MONDO:0005875 "Newcastle disease" 1 5 0 0 0 0 GO:0009126 "purine nucleoside monophosphate metabolic process" 1 0 0 0 0 0 MONDO:0014298 "chromosome 5q12 deletion syndrome" 1 4 0 0 0 1 MONDO:0015915 "cerebellar malformation" 0 1 0 0 0 0 -MONDO:0001115 "familial polycythemia" 1 6 0 0 0 1 +MONDO:0001115 "familial polycythemia" 1 5 0 0 0 1 UBERON:0004121 "ectoderm-derived structure" 0 0 0 0 0 1 MONDO:0011917 "focal segmental glomerulosclerosis 3, susceptibility to" 1 1 0 0 0 1 UBERON:0005157 "epithelial fold" 0 0 0 0 0 0 @@ -24814,17 +24837,17 @@ MONDO:0100057 "food-dependent exercise-induced anaphylaxis" 1 0 0 0 0 0 MONDO:0016184 "qualitative or quantitative defects of protein O-mannosyltransferase 1" 0 1 0 0 0 0 MONDO:0019744 "obsolete rare renal tubular disease" 0 1 0 0 0 0 MONDO:0017697 "glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form" 0 4 0 0 0 0 -MONDO:0010227 "retinitis pigmentosa 3" 1 7 0 0 0 0 +MONDO:0010227 "retinitis pigmentosa 3" 1 6 0 0 0 0 HP:0011858 "Reduced factor IX activity" 1 1 0 0 0 0 -MONDO:0005371 "mood disorder" 1 10 0 0 0 0 +MONDO:0005371 "mood disorder" 1 8 0 0 0 0 GO:0003030 "detection of hydrogen ion" 1 0 0 0 0 0 http://identifiers.org/hgnc/27337 "ANO5" 0 0 0 0 0 0 MONDO:0400004 "phrynoderma" 1 0 0 0 0 0 http://identifiers.org/hgnc/3013 "DPYS" 0 0 0 0 0 0 GO:0002523 "leukocyte migration involved in inflammatory response" 1 0 0 0 0 1 MONDO:0016647 "autosomal recessive Stickler syndrome" 1 5 0 0 0 1 -MONDO:0019431 "primitive portal vein thrombosis" 1 3 0 0 0 0 -MONDO:0001859 "algoneurodystrophy" 0 4 0 0 0 0 +MONDO:0019431 "primitive portal vein thrombosis" 1 2 0 0 0 0 +MONDO:0001859 "algoneurodystrophy" 0 3 0 0 0 0 MONDO:0009720 "Keipert syndrome" 1 8 0 0 0 0 CL:0000209 "taste receptor cell" 1 1 0 0 0 1 MONDO:0001261 "Mobitz type II atrioventricular block" 1 5 0 0 0 0 @@ -24837,7 +24860,7 @@ GO:0042303 "molting cycle" 1 0 0 0 0 0 http://identifiers.org/hgnc/10606 "SCP2" 0 0 0 0 0 0 MONDO:0001702 "labia majora carcinoma" 1 3 0 0 0 1 MONDO:0016185 "qualitative or quantitative defects of protein O-mannosyltransferase 2" 0 1 0 0 0 0 -MONDO:0015663 "diencephalic syndrome" 1 9 0 0 0 0 +MONDO:0015663 "diencephalic syndrome" 1 8 0 0 0 0 CHR:9606-chr2 "chromosome 2 (Human)" 0 0 0 0 0 0 MONDO:0015289 "infectious epithelial keratitis" 1 1 0 0 0 1 UBERON:0001270 "bony pelvis" 0 0 0 0 0 0 @@ -24868,9 +24891,9 @@ UBERON:0010164 "collection of hairs" 0 0 0 0 0 1 GO:0016670 "oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor" 1 0 0 0 0 0 MONDO:0003889 "infiltrating bladder urothelial carcinoma, clear cell variant" 1 3 0 0 0 0 UBERON:0006539 "mammary gland fluid/secretion" 0 0 0 0 0 1 -MONDO:0002494 "substance-related disorder" 1 3 0 0 0 0 +MONDO:0002494 "substance-related disorder" 1 4 0 0 0 0 UBERON:0009973 "ureterovesical junction" 0 0 0 0 0 1 -MONDO:0010374 "retinitis pigmentosa 34" 1 6 0 0 0 0 +MONDO:0010374 "retinitis pigmentosa 34" 1 5 0 0 0 0 GO:0050818 "regulation of coagulation" 1 0 0 0 0 1 MONDO:0010982 "ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin" 0 4 0 0 0 0 http://identifiers.org/hgnc/2379 "CRTAP" 0 0 0 0 0 0 @@ -24890,16 +24913,16 @@ MONDO:0004669 "salivary gland cancer" 1 6 0 0 0 1 MONDO:0008879 "Bowen-Conradi syndrome" 1 9 0 0 0 0 MONDO:0010701 "obsolete opticoacoustic nerve atrophy with dementia" 0 0 0 0 0 0 MONDO:0032818 "neurodevelopmental disorder with cerebellar hypoplasia and spasticity" 0 1 0 0 0 0 -MONDO:0013435 "primary ciliary dyskinesia 15" 1 5 0 0 0 1 +MONDO:0013435 "primary ciliary dyskinesia 15" 1 4 0 0 0 1 MONDO:0018081 "hemorrhagic fever-renal syndrome" 1 7 0 0 0 0 MONDO:0009833 "Shwachman-Diamond syndrome" 1 11 0 0 0 0 http://identifiers.org/hgnc/1583 "CCND2" 0 0 0 0 0 0 CHR:9606-chr17q2 "17q2 (Human)" 0 0 0 0 0 0 -MONDO:0018044 "idiopathic hypersomnia" 1 7 0 0 0 1 +MONDO:0018044 "idiopathic hypersomnia" 1 6 0 0 0 1 GO:0060005 "vestibular reflex" 1 0 0 0 0 0 MONDO:0007762 "hyperlipoproteinemia type V" 1 9 0 0 0 0 -MONDO:0012460 "autosomal recessive nonsyndromic hearing loss 67" 1 5 0 0 0 1 -MONDO:0005654 "ascariasis" 1 10 0 0 0 1 +MONDO:0012460 "autosomal recessive nonsyndromic hearing loss 67" 1 4 0 0 0 1 +MONDO:0005654 "ascariasis" 1 9 0 0 0 1 GO:1901362 "organic cyclic compound biosynthetic process" 1 0 0 0 0 0 MONDO:0032934 "genitourinary and/or brain malformation syndrome" 0 1 0 0 0 0 MONDO:0004760 "urethral false passage" 0 4 0 0 0 0 @@ -24911,7 +24934,7 @@ HsapDv:0000115 "21-year-old human stage" 1 0 0 0 0 0 GO:2000273 "positive regulation of signaling receptor activity" 1 0 0 0 0 1 HP:0012531 "Pain" 1 3 0 0 0 0 CHR:9606-chr13 "chromosome 13 (Human)" 0 0 0 0 0 0 -MONDO:0009291 "glycogen storage disease III" 1 13 0 0 0 1 +MONDO:0009291 "glycogen storage disease III" 1 12 0 0 0 1 MONDO:0020618 "obsolete blood group--private systems" 0 1 0 0 0 0 CHEBI:33432 "monoatomic chlorine" 0 0 0 0 0 0 http://identifiers.org/hgnc/10547 "SC5D" 0 0 0 0 0 0 @@ -24923,12 +24946,12 @@ GO:0015171 "amino acid transmembrane transporter activity" 1 0 0 0 0 0 GO:0097237 "cellular response to toxic substance" 1 0 0 0 0 0 MONDO:0010333 "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome" 1 7 0 0 0 0 GO:0070126 "mitochondrial translational termination" 1 0 0 0 0 1 -MONDO:0006648 "anterior compartment syndrome" 1 7 0 0 0 0 +MONDO:0006648 "anterior compartment syndrome" 1 6 0 0 0 0 http://identifiers.org/hgnc/29812 "DCPS" 0 0 0 0 0 0 NCBITaxon:42407 "Neotoma" 0 1 0 0 0 0 CHEBI:38077 "polypyrrole" 1 0 0 0 0 0 MONDO:0015071 "middle ear neuroendocrine tumor" 1 4 0 0 0 1 -MONDO:0011383 "autoimmune lymphoproliferative syndrome type 2A" 1 8 0 0 0 1 +MONDO:0011383 "autoimmune lymphoproliferative syndrome type 2A" 1 7 0 0 0 1 GO:0045806 "negative regulation of endocytosis" 1 0 0 0 0 1 GO:0045144 "meiotic sister chromatid segregation" 1 0 0 0 0 1 GO:0006885 "regulation of pH" 1 0 0 0 0 0 @@ -24938,7 +24961,7 @@ CHEBI:24621 "hormone" 1 0 0 0 0 0 MONDO:0015713 "idiopathic central precocious puberty" 0 6 0 0 0 1 MONDO:0013323 "cranioectodermal dysplasia 2" 1 3 0 0 0 1 http://identifiers.org/hgnc/13013 "KAT6A" 0 0 0 0 0 0 -MONDO:0006962 "sebaceous adenocarcinoma" 1 12 0 0 0 1 +MONDO:0006962 "sebaceous adenocarcinoma" 1 11 0 0 0 1 UBERON:0000126 "cranial nerve nucleus" 0 0 0 0 0 1 MONDO:0011314 "Graves disease, susceptibility to, 2" 0 1 0 0 0 0 UBERON:0013280 "diaphysis of tibia" 0 0 0 0 0 1 @@ -24981,10 +25004,10 @@ GO:1903532 "positive regulation of secretion by cell" 1 0 0 0 0 1 MONDO:0005561 "aortic disorder" 1 7 0 0 0 1 HP:0000286 "Epicanthus" 1 1 0 0 0 0 MONDO:0007870 "labia minora, incomplete adhesion of" 0 1 0 0 0 0 -MONDO:0013434 "primary ciliary dyskinesia 14" 1 5 0 0 0 1 +MONDO:0013434 "primary ciliary dyskinesia 14" 1 4 0 0 0 1 MONDO:0007031 "familial abdominal aortic aneurysm" 1 11 0 0 0 1 http://identifiers.org/hgnc/21686 "RNASET2" 0 0 0 0 0 0 -MONDO:0003582 "hereditary breast ovarian cancer syndrome" 1 15 0 0 0 0 +MONDO:0003582 "hereditary breast ovarian cancer syndrome" 1 13 0 0 0 0 MONDO:0020036 "obsolete rare nervous system tumor" 1 1 0 0 0 0 GO:0031323 "regulation of cellular metabolic process" 1 0 0 0 0 1 MONDO:0030840 "mismatch repair cancer syndrome 2" 0 1 0 0 0 0 @@ -24993,9 +25016,9 @@ MONDO:0015497 "hypoglossia/aglossia" 0 2 0 0 0 0 NCBITaxon:5722 "Trichomonas vaginalis" 0 1 0 0 0 0 UBERON:0004774 "inferior eyelid tarsus" 0 0 0 0 0 1 HP:0000932 "Abnormal posterior cranial fossa morphology" 1 1 0 0 0 0 -MONDO:0001255 "ventilation pneumonitis" 1 5 0 0 0 0 +MONDO:0001255 "ventilation pneumonitis" 1 4 0 0 0 0 NCBITaxon:83158 "Sarcoptoidea" 0 1 0 0 0 0 -MONDO:0005112 "malignant pleural mesothelioma" 1 6 0 0 0 1 +MONDO:0005112 "malignant pleural mesothelioma" 1 5 0 0 0 1 MONDO:0024390 "obsolete actinomycotic infectious disease" 0 0 0 0 0 0 GO:0050806 "positive regulation of synaptic transmission" 1 0 0 0 0 1 MONDO:0012238 "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2" 1 5 0 0 0 1 @@ -25024,7 +25047,7 @@ GO:0048608 "reproductive structure development" 1 0 0 0 0 0 UBERON:0003315 "mesenchyme of ovary" 0 0 0 0 0 1 MONDO:0044309 "Diamond-Blackfan anemia 16" 0 3 0 0 0 0 UBERON:0009661 "midbrain nucleus" 0 0 0 0 0 1 -MONDO:0019475 "subcutaneous panniculitis-like T-cell lymphoma" 1 13 0 0 0 0 +MONDO:0019475 "subcutaneous panniculitis-like T-cell lymphoma" 1 12 0 0 0 0 MONDO:0018471 "generalized eruptive keratoacanthoma" 1 5 0 0 0 0 MONDO:0015644 "audiogenic seizures" 1 4 0 0 0 0 CL:0010002 "epithelial cell of umbilical artery" 1 0 0 0 0 1 @@ -25041,7 +25064,7 @@ HP:0003677 "Slowly progressive" 1 1 0 0 0 0 MONDO:0011398 "dystrophic epidermolysis bullosa pruriginosa" 1 7 0 0 0 0 MONDO:0100441 "GUCY2D-related dominant retinopathy" 1 0 0 0 0 0 MONDO:0004932 "null-cell leukemia" 0 3 0 0 0 0 -MONDO:0016120 "myotonic syndrome" 0 4 0 0 0 1 +MONDO:0016120 "myotonic syndrome" 0 3 0 0 0 1 GO:0016064 "immunoglobulin mediated immune response" 1 0 0 0 0 0 MONDO:0007416 "Balkan nephropathy" 1 12 0 0 0 0 MONDO:0007398 "craniorhiny" 0 5 0 0 0 0 @@ -25099,26 +25122,26 @@ MONDO:0011436 "autosomal recessive distal spinal muscular atrophy 1" 1 9 0 0 0 1 MONDO:0024348 "obsolete pityriasis capitis" 0 1 0 0 0 0 GO:0090174 "organelle membrane fusion" 1 0 0 0 0 0 MONDO:0004824 "neonatal candidiasis" 1 6 0 0 0 0 -MONDO:0000739 "uvulitis" 1 7 0 0 0 1 -MONDO:0012602 "autosomal recessive nonsyndromic hearing loss 24" 1 5 0 0 0 1 +MONDO:0000739 "uvulitis" 1 6 0 0 0 1 +MONDO:0012602 "autosomal recessive nonsyndromic hearing loss 24" 1 4 0 0 0 1 MONDO:0006596 "photoallergic dermatitis" 1 7 0 0 0 1 GO:0061626 "pharyngeal arch artery morphogenesis" 1 0 0 0 0 0 ENVO:01000617 "lentic water body"@en 1 0 0 0 0 0 GO:0007498 "mesoderm development" 1 0 0 0 0 0 ENVO:01000041 "neritic sea surface microlayer biome" 1 0 0 0 0 0 CL:0002631 "epithelial cell of upper respiratory tract" 0 0 0 0 0 1 -MONDO:0002088 "partial retinal vein occlusion" 0 5 0 0 0 0 +MONDO:0002088 "partial retinal vein occlusion" 0 4 0 0 0 0 MONDO:0001202 "prostatic cyst" 0 6 0 0 0 0 http://identifiers.org/hgnc/33235 "PWRN1" 0 0 0 0 0 0 MONDO:0015911 "obsolete rare acquired hemolytic anemia" 1 3 0 0 0 0 MONDO:0100239 "inherited hypertrophic pyloric stenosis" 1 6 0 0 0 0 -MONDO:0045019 "lactation disease" 0 2 0 0 0 1 +MONDO:0045019 "lactation disease" 0 3 0 0 0 1 GO:0005887 "integral component of plasma membrane" 1 0 0 0 0 1 http://identifiers.org/hgnc/12463 "UBB" 0 0 0 0 0 0 MONDO:0003188 "obsolete juvenile myoclonic epilepsy" 0 0 0 0 0 0 GO:0002349 "histamine production involved in inflammatory response" 1 0 0 0 0 0 MONDO:0015800 "osteosclerosis-developmental delay-craniosynostosis syndrome" 1 4 0 0 0 0 -MONDO:0001480 "malignant tumor of undescended testis" 0 5 0 0 0 0 +MONDO:0001480 "malignant tumor of undescended testis" 0 4 0 0 0 0 MONDO:0012877 "major affective disorder 8" 0 2 0 0 0 0 http://identifiers.org/hgnc/17089 "SYNE1" 0 0 0 0 0 0 UBERON:0001806 "sympathetic ganglion" 0 0 0 0 0 1 @@ -25146,17 +25169,17 @@ CL:1000090 "pronephric nephron tubule epithelial cell" 0 0 0 0 0 1 MONDO:0014541 "motor developmental delay due to 14q32.2 paternally expressed gene defect" 1 5 0 0 0 0 MONDO:0015896 "obsolete rare hypoparathyroidism" 1 1 0 0 0 0 HP:0005445 "Enlarged posterior fossa" 1 1 0 0 0 0 -MONDO:0007279 "cataract 7" 1 4 0 0 0 0 +MONDO:0007279 "cataract 7" 1 3 0 0 0 0 MONDO:0003081 "thalamic disorder" 1 4 0 0 0 1 MONDO:0044317 "premature ovarian failure 13" 0 2 0 0 0 0 MONDO:0012839 "pyogenic bacterial infections due to MyD88 deficiency" 1 6 0 0 0 0 MONDO:0056795 "X-linked spermatogenic failure 1" 0 2 0 0 0 0 -MONDO:0004800 "chronic dacryoadenitis" 1 5 0 0 0 1 +MONDO:0004800 "chronic dacryoadenitis" 1 4 0 0 0 1 MONDO:0015764 "mosaic trisomy 20" 1 2 0 0 0 1 GO:0009617 "response to bacterium" 1 0 0 0 0 0 UBERON:0001785 "cranial nerve" 0 0 0 0 0 1 -MONDO:0004902 "interstitial keratitis" 0 4 0 0 0 0 -MONDO:0004903 "deep keratitis" 0 6 0 0 0 0 +MONDO:0004902 "interstitial keratitis" 0 3 0 0 0 0 +MONDO:0004903 "deep keratitis" 0 5 0 0 0 0 CL:1000410 "myocyte of atrioventricular node" 1 1 0 0 0 1 CHEBI:25704 "organic sulfate" 1 0 0 0 0 0 MONDO:0017525 "polydactyly of a triphalangeal thumb, unilateral" 0 3 0 0 0 0 @@ -25201,7 +25224,7 @@ MONDO:0100284 "X-linked intellectual disability" 1 0 0 0 0 1 http://identifiers.org/hgnc/7526 "MMUT" 0 0 0 0 0 0 http://identifiers.org/hgnc/28403 "TRMT10A" 0 0 0 0 0 0 http://identifiers.org/hgnc/4421 "GNRHR" 0 0 0 0 0 0 -MONDO:0018104 "obsolete Torg-Winchester syndrome" 0 4 0 0 0 0 +MONDO:0018104 "obsolete Torg-Winchester syndrome" 0 2 0 0 0 0 MONDO:0014652 "exudative vitreoretinopathy 6" 1 4 0 0 0 1 http://identifiers.org/hgnc/20439 "UPF3B" 0 0 0 0 0 0 GO:0008757 "S-adenosylmethionine-dependent methyltransferase activity" 1 0 0 0 0 0 @@ -25210,12 +25233,12 @@ MONDO:0018993 "Charcot-Marie-Tooth disease type 2" 1 8 0 0 0 0 http://identifiers.org/hgnc/29216 "ARHGAP31" 0 0 0 0 0 0 MONDO:0018578 "obsolete hypophosphatemic rickets" 0 0 0 0 0 0 UBERON:0004638 "blood vessel endothelium" 0 0 0 0 0 1 -MONDO:0002134 "physiological sexual disorder" 1 7 0 0 0 0 +MONDO:0002134 "physiological sexual disorder" 1 5 0 0 0 0 UBERON:0004637 "otic capsule" 0 0 0 0 0 0 MONDO:0006266 "Leydig cell tumor" 1 6 0 0 0 0 MONDO:0006671 "Bacteroides infectious disease" 1 5 0 0 0 1 MONDO:0010417 "syndromic X-linked intellectual disability Najm type" 1 7 0 0 0 0 -MONDO:0010787 "Kearns-Sayre syndrome" 1 11 0 0 0 0 +MONDO:0010787 "Kearns-Sayre syndrome" 1 10 0 0 0 0 MONDO:0006087 "appendix adenocarcinoma" 1 7 0 0 0 1 CL:0000069 "branched duct epithelial cell" 0 0 0 0 0 0 CHEBI:53368 "ionic macromolecule" 1 0 0 0 0 0 @@ -25224,7 +25247,7 @@ MONDO:0010779 "mitochondrial non-syndromic sensorineural hearing loss" 0 6 0 0 0 MONDO:0011985 "hyper-IgM syndrome type 4" 1 8 0 0 0 0 MONDO:0010164 "phocomelia, Schinzel type" 1 7 0 0 0 0 MONDO:0016176 "axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy" 0 2 0 0 0 0 -MONDO:0019362 "epidemic louse-borne typhus" 1 5 0 0 0 1 +MONDO:0019362 "epidemic louse-borne typhus" 1 4 0 0 0 1 MONDO:0034021 "spondylodysplastic Ehlers-Danlos syndrome" 0 1 0 0 0 0 http://identifiers.org/hgnc/18831 "CTHRC1" 0 0 0 0 0 0 MONDO:0010441 "CK syndrome" 0 3 0 0 0 0 @@ -25258,19 +25281,19 @@ GO:0043228 "non-membrane-bounded organelle" 1 0 0 0 0 0 MONDO:0060760 "intellectual developmental disorder with dysmorphic facies and behavioral abnormalities" 0 1 0 0 0 0 UBERON:0013695 "colon endothelium" 0 0 0 0 0 1 CHEBI:24870 "ion" 1 0 0 0 0 0 -MONDO:0006932 "pulmonary edema" 1 9 0 0 0 0 +MONDO:0006932 "pulmonary edema" 1 8 0 0 0 0 MONDO:0014538 "fibrosis of extraocular muscles, congenital, 5" 1 3 0 0 0 1 MONDO:0000806 "obsolete horned turban snail allergy" 1 1 0 0 0 0 MONDO:0013884 "neuronopathy, distal hereditary motor, type 5B" 1 4 0 0 0 1 GO:1901999 "homogentisate metabolic process" 1 0 0 0 0 0 -MONDO:0004846 "placental abruption" 1 11 0 0 0 0 +MONDO:0004846 "placental abruption" 1 10 0 0 0 0 MONDO:0016467 "isotretinoin syndrome" 1 6 0 0 0 0 NCBITaxon:91888 "lamiids" 0 2 0 0 0 0 MONDO:0019606 "simple cryoglobulinemia" 1 5 0 0 0 0 GO:0019955 "cytokine binding" 1 0 0 0 0 0 MONDO:0020020 "visceral malformation of the liver, biliary tract, pancreas or spleen" 0 1 0 0 0 0 UBERON:0004872 "splanchnic layer of lateral plate mesoderm" 0 0 0 0 0 0 -MONDO:0008757 "alopecia universalis congenita" 1 12 0 0 0 1 +MONDO:0008757 "alopecia universalis congenita" 1 11 0 0 0 1 MONDO:0020137 "obsolete frontotemporal degeneration with dementia" 0 2 0 0 0 0 GO:1903531 "negative regulation of secretion by cell" 1 0 0 0 0 1 MONDO:0009991 "obsolete Rh deficiency syndrome" 0 0 0 0 0 0 @@ -25289,7 +25312,7 @@ http://identifiers.org/hgnc/1975 "VSX2" 0 0 0 0 0 0 HP:0010976 "B lymphocytopenia" 1 1 0 0 0 0 IAO:8000003 "main release ontology module"@en 1 0 0 0 0 0 MONDO:0007846 "KBG syndrome" 1 9 0 0 0 0 -MONDO:0001715 "basilar artery occlusion" 0 6 0 0 0 1 +MONDO:0001715 "basilar artery occlusion" 0 5 0 0 0 1 UBERON:0002385 "muscle tissue" 0 0 0 0 0 1 MONDO:0011333 "light fixation seizure syndrome" 0 3 0 0 0 0 http://identifiers.org/hgnc/26624 "KDF1" 0 0 0 0 0 0 @@ -25299,7 +25322,7 @@ MONDO:0004317 "multiple spinal canal and spinal cord meningioma" 1 3 0 0 0 0 MONDO:0002935 "penis basal cell carcinoma" 1 3 0 0 0 1 MONDO:0015325 "cataract-deafness-hypogonadism syndrome" 1 4 0 0 0 0 CHEBI:15841 "polypeptide" 1 0 0 0 0 0 -MONDO:0010979 "Timothy syndrome" 1 10 0 0 0 0 +MONDO:0010979 "Timothy syndrome" 1 9 0 0 0 0 UBERON:0006059 "falx cerebri" 0 0 0 0 0 0 GO:0050911 "detection of chemical stimulus involved in sensory perception of smell" 1 0 0 0 0 1 GO:0002822 "regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains" 1 0 0 0 0 1 @@ -25324,7 +25347,7 @@ GO:0042537 "benzene-containing compound metabolic process" 1 0 0 0 0 0 http://identifiers.org/hgnc/5103 "HOXA2" 0 0 0 0 0 0 MONDO:0015230 "anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome" 1 5 0 0 0 0 MONDO:0016782 "paternal 14q32.2 hypomethylation syndrome" 0 2 0 0 0 0 -MONDO:0001200 "secondary hypertension" 1 10 0 0 0 0 +MONDO:0001200 "secondary hypertension" 1 9 0 0 0 0 CL:0008017 "adult skeletal muscle myoblast" 1 0 0 0 0 1 http://identifiers.org/hgnc/32698 "DUOXA2" 0 0 0 0 0 0 MONDO:0020554 "Heiner syndrome" 1 6 0 0 0 0 @@ -25340,7 +25363,7 @@ MONDO:0020244 "obsolete unclassified primitive or secondary maculopathy" 0 1 0 0 MONDO:0004006 "rete ovarii cystadenofibroma" 1 3 0 0 0 1 CHEBI:27027 "micronutrient" 1 0 0 0 0 0 http://identifiers.org/hgnc/28557 "KLHDC8B" 0 0 0 0 0 0 -MONDO:0005823 "legionellosis" 1 12 0 0 0 0 +MONDO:0005823 "legionellosis" 1 11 0 0 0 0 MONDO:0100253 "Roberts-SC phocomelia syndrome" 1 2 0 0 0 0 UBERON:0005037 "mucosa of lobar bronchus" 0 0 0 0 0 1 NCBITaxon:4893 "Saccharomycetaceae" 0 1 0 0 0 0 @@ -25363,7 +25386,6 @@ MONDO:0018067 "triploidy" 1 8 0 0 0 0 NCBITaxon:85819 "Phthiraptera" 0 1 0 0 0 0 http://identifiers.org/hgnc/1171 "ELP4" 0 0 0 0 0 0 UBERON:0001620 "central retinal artery" 0 0 0 0 0 0 -MONDO:0033552 "blood group, lewis system" 0 1 0 0 0 0 MONDO:0016329 "obsolete familial syndrome associated with hypertrophic cardiomyopathy" 0 0 0 0 0 0 MONDO:0002785 "skull base neoplasm" 1 4 0 0 0 1 MONDO:0037255 "ovarian serous tumor" 1 2 0 0 0 1 @@ -25378,7 +25400,7 @@ CL:1000448 "epithelial cell of sweat gland" 1 1 0 0 0 1 MONDO:0019223 "inborn disorder of fatty acid oxidation and ketone body metabolism" 0 3 0 0 0 0 IAO:8000008 "analysis subset ontology module"@en 1 0 0 0 0 0 MONDO:0019343 "obsolete mixed connective tissue disease" 0 0 0 0 0 0 -MONDO:0002003 "papilledema" 1 10 0 0 0 0 +MONDO:0002003 "papilledema" 1 7 0 0 0 0 MONDO:0030006 "combined oxidative phosphorylation deficiency 40" 0 2 0 0 0 0 MONDO:0008398 "salivary substance, Clostridium botulinum type" 0 2 0 0 0 0 MONDO:0024291 "vascular malformation" 1 1 0 0 0 1 @@ -25389,7 +25411,7 @@ GO:0002675 "positive regulation of acute inflammatory response" 1 0 0 0 0 1 MONDO:0021136 "rare" 1 0 0 0 0 0 SO:0001504 "assortment_derived_variation" 1 0 0 0 0 0 MONDO:0002377 "breast intracanalicular fibroadenoma" 1 4 0 0 0 0 -MONDO:0010973 "autosomal dominant nonsyndromic hearing loss 5" 1 5 0 0 0 1 +MONDO:0010973 "autosomal dominant nonsyndromic hearing loss 5" 1 4 0 0 0 1 MONDO:0003403 "testicular non-seminomatous germ cell cancer" 1 3 0 0 0 1 CHEBI:33309 "noble gas atom" 0 0 0 0 0 0 MONDO:0010742 "pentalogy of Cantrell" 1 9 0 0 0 0 @@ -25425,7 +25447,7 @@ MONDO:0021427 "squamous cell carcinoma of lip" 1 5 0 0 0 1 http://identifiers.org/hgnc/10975 "SLC24A1" 0 0 0 0 0 0 http://identifiers.org/hgnc/21652 "OSTM1" 0 0 0 0 0 0 IAO:8000015 "template generated ontology module"@en 1 0 0 0 0 0 -MONDO:0012452 "autosomal recessive nonsyndromic hearing loss 65" 1 5 0 0 0 0 +MONDO:0012452 "autosomal recessive nonsyndromic hearing loss 65" 1 4 0 0 0 0 MONDO:0006187 "duodenal villous adenoma" 1 4 0 0 0 1 MONDO:0000242 "tinea barbae" 1 3 0 0 0 1 MONDO:0009636 "mitochondrial DNA depletion syndrome 3" 1 5 0 0 0 1 @@ -25454,7 +25476,7 @@ HP:0011729 "Abnormality of joint mobility" 1 1 0 0 0 0 MONDO:0011011 "skeletal dysplasia-epilepsy-short stature syndrome" 1 7 0 0 0 0 UBERON:0004990 "mucosa of ascending colon" 0 0 0 0 0 1 GO:1904318 "regulation of smooth muscle contraction involved in micturition" 1 0 0 0 0 1 -MONDO:0017844 "Sezary syndrome" 1 15 0 0 0 0 +MONDO:0017844 "Sezary syndrome" 1 14 0 0 0 0 GO:0033046 "negative regulation of sister chromatid segregation" 1 0 0 0 0 1 MONDO:0004637 "aryepiglottic fold cancer" 1 4 0 0 0 1 MONDO:0045051 "cortical cataract" 1 2 0 0 0 1 @@ -25470,17 +25492,16 @@ MONDO:0016516 "Kenny-Caffey syndrome" 1 10 0 0 0 0 MONDO:0014396 "dilated cardiomyopathy 1NN" 1 4 0 0 0 1 MONDO:0030008 "combined oxidative phosphorylation deficiency 42" 0 1 0 0 0 0 MONDO:0032858 "developmental and epileptic encephalopathy, 81" 0 1 0 0 0 0 -MONDO:0008513 "synpolydactyly type 1" 1 6 0 0 0 1 +MONDO:0008513 "synpolydactyly type 1" 1 4 0 0 0 1 MONDO:0014930 "intellectual disability, autosomal recessive 56" 1 2 0 0 0 1 -MONDO:0003274 "thoracic cancer" 1 9 0 0 0 1 +MONDO:0003274 "thoracic cancer" 1 8 0 0 0 1 MONDO:0014553 "Tenorio syndrome" 0 2 0 0 0 0 ENVO:01001293 "bush area"@en 1 0 0 0 0 1 HP:0011458 "Abdominal symptom" 1 1 0 0 0 0 MONDO:0009734 "hyperinsulinemic hypoglycemia, familial, 1" 1 7 0 0 0 1 NCIT:C49163 "Surgical Procedure by Site or System" 0 0 0 0 0 0 GO:0043433 "negative regulation of DNA-binding transcription factor activity" 1 0 0 0 0 1 -MONDO:0000255 "subcutaneous mycosis" 1 1 0 0 0 1 -MONDO:0018186 "ring chromosome" 1 4 0 0 0 0 +MONDO:0000255 "subcutaneous mycosis" 1 2 0 0 0 1 MONDO:0014458 "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" 1 3 0 0 0 1 CHEBI:33484 "chalcogen oxoacid" 0 0 0 0 0 0 NCBITaxon:1511862 "Carnivore amdoparvovirus 1" 0 1 0 0 0 0 @@ -25507,7 +25528,7 @@ MONDO:0013784 "lethal neonatal spasticity-epileptic encephalopathy syndrome" 0 5 NCBITaxon:1678 "Bifidobacterium" 0 6 0 0 0 0 MONDO:0010068 "spondyloepimetaphyseal dysplasia, sponastrime type" 1 9 0 0 0 0 MONDO:0022812 "complement receptor deficiency" 1 4 0 0 0 0 -MONDO:0011908 "juvenile myelomonocytic leukemia" 1 15 0 0 0 0 +MONDO:0011908 "juvenile myelomonocytic leukemia" 1 13 0 0 0 0 MONDO:0018595 "single-organ polyarteritis nodosa" 1 3 0 0 0 0 MONDO:0016396 "pontocerebellar hypoplasia type 1" 1 9 0 0 0 0 MONDO:0015519 "congenital or early infantile CACH syndrome" 0 3 0 0 0 0 @@ -25522,7 +25543,7 @@ UBERON:0005366 "olfactory lobe" 0 0 0 0 0 0 MONDO:0002700 "obsolete epithelioid trophoblastic tumor" 0 0 0 0 0 0 HP:0001156 "Brachydactyly" 1 3 0 0 0 0 MONDO:0014288 "Joubert syndrome 21" 1 5 0 0 0 1 -MONDO:0011473 "Leber congenital amaurosis 5" 1 6 0 0 0 1 +MONDO:0011473 "Leber congenital amaurosis 5" 1 5 0 0 0 1 MONDO:0003391 "vulvar alveolar soft part sarcoma" 1 3 0 0 0 1 MONDO:0022945 "deafness peripheral neuropathy arterial disease" 0 1 0 0 0 0 MONDO:0013002 "cone-rod dystrophy 9" 1 3 0 0 0 1 @@ -25544,7 +25565,7 @@ MONDO:0032679 "combined oxidative phosphorylation deficiency 37" 0 2 0 0 0 0 MONDO:0005483 "chemotherapy-induced alopecia" 1 1 0 0 0 1 CL:1000298 "mesothelial cell of dura mater" 1 1 0 0 0 1 MONDO:0024297 "obsolete nutritional or metabolic disease" 1 3 0 0 0 0 -MONDO:0004886 "diffuse secondary choroid atrophy" 0 5 0 0 0 0 +MONDO:0004886 "diffuse secondary choroid atrophy" 0 4 0 0 0 0 UBERON:0005172 "abdomen element" 0 0 0 0 0 1 GO:0014048 "regulation of glutamate secretion" 1 0 0 0 0 1 MONDO:0000447 "autosomal dominant polycystic liver disease" 1 14 0 0 0 0 @@ -25566,7 +25587,7 @@ MONDO:0020661 "undifferentiated round cell sarcoma" 1 1 0 0 0 0 CL:0000169 "type B pancreatic cell" 1 5 0 0 0 1 MONDO:0019166 "obsolete strongyloidiasis" 0 0 0 0 0 0 MONDO:0002822 "trabecular adenocarcinoma" 1 5 0 0 0 1 -MONDO:0001175 "immature cataract" 1 6 0 0 0 0 +MONDO:0001175 "immature cataract" 1 5 0 0 0 0 MONDO:0001899 "rheumatic congestive heart failure" 0 5 0 0 0 0 http://identifiers.org/hgnc/21150 "RNF125" 0 0 0 0 0 0 MONDO:0032877 "neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures" 0 1 0 0 0 0 @@ -25595,24 +25616,25 @@ MONDO:0100115 "acute flaccid myelitis" 1 1 0 0 0 0 GO:0044238 "primary metabolic process" 1 0 0 0 0 0 MONDO:0007219 "Osebold-Remondini syndrome" 1 8 0 0 0 0 MONDO:0012639 "hereditary spastic paraplegia 18" 1 7 0 0 0 1 -MONDO:0016570 "primary pulmonary lymphoma" 1 6 0 0 0 0 +MONDO:0016570 "primary pulmonary lymphoma" 1 5 0 0 0 0 MONDO:0019854 "thyroid ectopia" 1 4 0 0 0 0 MONDO:0012882 "major affective disorder 9" 0 2 0 0 0 0 -MONDO:0001791 "neonatal urinary tract infectious disease" 0 5 0 0 0 0 +MONDO:0001791 "neonatal urinary tract infectious disease" 0 4 0 0 0 0 MONDO:0015953 "genetic central nervous system and retinal vascular disease" 0 2 0 0 0 1 UBERON:0005296 "ovary sex cord" 0 0 0 0 0 1 UBERON:0009676 "early telencephalic vesicle" 0 0 0 0 0 0 -MONDO:0000919 "ampulla of vater cancer" 1 6 0 0 0 1 +MONDO:0000919 "ampulla of vater cancer" 1 5 0 0 0 1 MONDO:0015655 "obsolete cerebral malformation with epilepsy" 0 1 0 0 0 0 CHEBI:36830 "monoanion" 0 0 0 0 0 0 MONDO:0004726 "liver inflammatory myofibroblastic tumor" 1 5 0 0 0 1 MONDO:0032884 "ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies" 0 1 0 0 0 0 -MONDO:0004573 "ariboflavinosis" 1 5 0 0 0 0 +MONDO:0004573 "ariboflavinosis" 1 4 0 0 0 0 MONDO:0012573 "vesicoureteral reflux 2" 1 4 0 0 0 1 http://identifiers.org/hgnc/18782 "CCDC6" 0 0 0 0 0 0 MONDO:0005191 "metastatic melanoma" 1 4 0 0 0 1 MONDO:0017894 "acute myeloid leukemia with CEBPA somatic mutations" 1 6 0 0 0 0 UBERON:0006965 "vascular cord" 0 0 0 0 0 0 +MONDO:0000651 "obsolete thoracic disorder" 1 7 0 0 0 0 MONDO:0005202 "atopic IgE-mediated allergic disorder" 1 5 0 0 0 0 NCBITaxon:5690 "Trypanosoma" 0 1 0 0 0 0 MONDO:0022435 "Mauriac syndrome" 1 6 0 0 0 0 @@ -25626,7 +25648,7 @@ MONDO:0018353 "refractory celiac disease" 1 4 0 0 0 0 MONDO:0010709 "early-onset parkinsonism-intellectual disability syndrome" 1 8 0 0 0 0 MONDO:0018665 "X-linked acrogigantism due to a point mutation" 0 3 0 0 0 0 MONDO:0005472 "obsolete congenital heart malformation" 0 0 0 0 0 0 -MONDO:0009533 "Dahlberg-Borer-Newcomer syndrome" 1 7 0 0 0 0 +MONDO:0009533 "Dahlberg-Borer-Newcomer syndrome" 1 6 0 0 0 0 MONDO:0019717 "obsolete chromosomal disease with overgrowth" 0 2 0 0 0 0 PATO:0000386 "hard" 1 0 0 0 0 1 MONDO:0018306 "Griscelli syndrome" 1 11 0 0 0 0 @@ -25642,14 +25664,14 @@ NCBITaxon:34486 "Ancylistaceae" 0 1 0 0 0 0 MONDO:0003886 "mucinous cystadenofibroma" 1 3 0 0 0 1 MONDO:0024554 "D-2-hydroxyglutaric aciduria 1" 1 4 0 0 0 1 ENVO:00002872 "bagasse" 1 0 0 0 0 0 -MONDO:0002028 "personality disorder" 1 7 0 0 0 0 +MONDO:0002028 "personality disorder" 1 9 0 0 0 0 MONDO:0019382 "obsolete Colorado tick fever" 0 0 0 0 0 0 UBERON:0001257 "trigone of urinary bladder" 0 0 0 0 0 0 MONDO:0001581 "obsolete tolosa-hunt syndrome" 0 0 0 0 0 0 MONDO:0023538 "Kaplowitz-Bodurtha syndrome" 0 2 0 0 0 0 NCBITaxon:5583 "Exophiala" 0 1 0 0 0 0 MONDO:0018333 "multiple acyl-CoA dehydrogenase deficiency, mild type" 0 3 0 0 0 0 -MONDO:0013171 "purine nucleoside phosphorylase deficiency" 1 11 0 0 0 0 +MONDO:0013171 "purine nucleoside phosphorylase deficiency" 1 10 0 0 0 0 MONDO:0015174 "autoimmune enteropathy type 3" 0 3 0 0 0 0 MONDO:0032782 "immunodeficiency 63 with lymphoproliferation and autoimmunity" 0 1 0 0 0 0 MONDO:0007177 "auriculoosteodysplasia" 1 6 0 0 0 0 @@ -25671,7 +25693,7 @@ HP:0001260 "Dysarthria" 1 3 0 0 0 0 MONDO:0010368 "immunodeficiency without anhidrotic ectodermal dysplasia" 0 4 0 0 0 0 PATO:0002422 "acinar" 1 0 0 0 0 0 ENVO:00002982 "clay" 1 0 0 0 0 0 -MONDO:0006572 "lichen planus" 1 9 0 0 0 0 +MONDO:0006572 "lichen planus" 1 8 0 0 0 0 MONDO:0013466 "orofacial cleft 13" 0 4 0 0 0 0 MONDO:0013333 "odontoid hypoplasia" 1 2 0 0 0 0 CL:0012000 "astrocyte of the forebrain" 1 0 0 0 0 1 @@ -25695,13 +25717,13 @@ MONDO:0014533 "developmental and epileptic encephalopathy, 28" 1 3 0 0 0 1 CHEBI:35191 "triterpene" 1 0 0 0 0 0 MONDO:0016681 "gliosarcoma" 1 11 0 0 0 0 UBERON:0003500 "corneal blood vessel" 0 0 0 0 0 1 -MONDO:0006733 "dry eye syndrome" 1 15 0 0 0 0 +MONDO:0006733 "dry eye syndrome" 1 14 0 0 0 0 MONDO:0012219 "spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type" 0 3 0 0 0 0 MONDO:0017599 "splenic diffuse red pulp small B-cell lymphoma" 1 7 0 0 0 0 MONDO:0020314 "obsolete refractory anemia" 0 0 0 0 0 0 MONDO:0013017 "hypotrichosis 5" 1 5 0 0 0 0 GO:0017144 "drug metabolic process" 1 0 0 0 0 0 -MONDO:0020323 "primary mediastinal large B-cell lymphoma" 1 10 0 0 0 0 +MONDO:0020323 "primary mediastinal large B-cell lymphoma" 1 9 0 0 0 0 UBERON:0036269 "penis blood vessel" 0 0 0 0 0 1 MONDO:0001354 "obsolete acute endophthalmitis" 0 0 0 0 0 0 CHR:9606-chr8q2 "8q2 (Human)" 0 0 0 0 0 0 @@ -25709,7 +25731,7 @@ MONDO:0009149 "ectodermal dysplasia-intellectual disability-central nervous syst MONDO:0019306 "congenital non-bullous ichthyosiform erythroderma" 1 11 0 0 0 0 http://identifiers.org/hgnc/9277 "PPM1D" 0 0 0 0 0 0 MONDO:0018050 "tibial aplasia-ectrodactyly syndrome" 1 6 0 0 0 0 -MONDO:0042487 "uterine cervix carcinoma in situ" 1 10 0 0 0 1 +MONDO:0042487 "uterine cervix carcinoma in situ" 1 6 0 0 0 1 MONDO:0020307 "benign childhood occipital epilepsy, Panayiotopoulos type" 1 5 0 0 0 0 FOODON:00003004 "animal"@en 1 0 0 0 0 0 CL:0002028 "basophil mast progenitor cell" 1 0 0 0 0 0 @@ -25754,7 +25776,7 @@ MONDO:0016714 "obsolete ganglioneuroblastoma" 0 0 0 0 0 0 MONDO:0005766 "fungal lung infectious disease" 1 3 0 0 0 1 http://identifiers.org/hgnc/25088 "SGO1" 0 0 0 0 0 0 MONDO:0015189 "obsolete adenocarcinoma of small instestine" 1 0 0 0 0 0 -MONDO:0006827 "lateral medullary syndrome" 1 10 0 0 0 0 +MONDO:0006827 "lateral medullary syndrome" 1 9 0 0 0 0 UBERON:0036523 "wall of vagina" 0 0 0 0 0 1 UBERON:0004062 "neural tube marginal layer" 0 0 0 0 0 0 MONDO:0010125 "upper limb defect-eye and ear abnormalities syndrome" 1 5 0 0 0 0 @@ -25777,7 +25799,7 @@ UBERON:0001499 "muscle of arm" 0 0 0 0 0 1 MONDO:0016800 "mitochondrial membrane transport disorder" 0 2 0 0 0 1 NCBITaxon:12475 "Hepatitis delta virus" 0 1 0 0 0 0 MONDO:0008893 "C syndrome" 1 8 0 0 0 0 -MONDO:0010544 "cataract 40" 1 8 0 0 0 1 +MONDO:0010544 "cataract 40" 1 7 0 0 0 1 MONDO:0008086 "neuropathy, hereditary sensory and autonomic, type 1A" 1 4 0 0 0 1 UBERON:0003323 "mesenchyme of upper jaw" 0 0 0 0 0 1 CHEBI:27638 "cobalt atom" 1 0 0 0 0 0 @@ -25857,7 +25879,7 @@ MONDO:0016267 "undifferentiated carcinoma of the corpus uteri" 1 2 0 0 0 1 CL:0002013 "GlyA-positive basophillic erythroblast" 1 0 0 0 0 0 MONDO:0014766 "leukodystrophy and acquired microcephaly with or without dystonia;" 0 2 0 0 0 0 UBERON:0004819 "kidney epithelium" 0 0 0 0 0 1 -MONDO:0001817 "acute closed-angle glaucoma" 1 5 0 0 0 1 +MONDO:0001817 "acute closed-angle glaucoma" 1 4 0 0 0 1 http://identifiers.org/hgnc/4706 "GYS1" 0 0 0 0 0 0 MONDO:0014248 "autism spectrum disorder - epilepsy - arthrogryposis syndrome" 1 4 0 0 0 0 MONDO:0002476 "anuria" 1 4 0 0 0 0 @@ -25873,7 +25895,7 @@ http://identifiers.org/hgnc/20997 "ZMYND15" 0 0 0 0 0 0 MONDO:0009205 "faciocardiorenal syndrome" 1 7 0 0 0 0 MONDO:0002583 "mucinous ovarian cystadenoma" 1 4 0 0 0 1 UBERON:0009880 "carpal skeleton" 0 0 0 0 0 1 -MONDO:0019805 "twin to twin transfusion syndrome" 1 12 0 0 0 0 +MONDO:0019805 "twin to twin transfusion syndrome" 1 10 0 0 0 0 GO:0001867 "complement activation, lectin pathway" 1 0 0 0 0 0 MONDO:0056813 "hormone-resistant breast carcinoma" 1 1 0 0 0 1 MONDO:0007155 "arteritis, familial granulomatous, with juvenile polyarthritis" 0 3 0 0 0 0 @@ -25881,7 +25903,7 @@ GO:0010975 "regulation of neuron projection development" 1 0 0 0 0 1 MONDO:0014517 "generalized epilepsy with febrile seizures plus, type 9" 1 4 0 0 0 1 MONDO:0011575 "cerebrooculonasal syndrome" 1 7 0 0 0 0 MONDO:0013225 "congenital generalized lipodystrophy type 4" 1 7 0 0 0 1 -MONDO:0007033 "abducens nerve palsy" 1 7 0 0 0 1 +MONDO:0007033 "abducens nerve palsy" 1 6 0 0 0 1 MONDO:0004093 "esophageal basaloid carcinoma" 1 3 0 0 0 1 UBERON:0003897 "axial muscle" 0 0 0 0 0 1 MONDO:0000504 "obsolete follicular lymphoma" 0 0 0 0 0 0 @@ -25922,11 +25944,11 @@ MONDO:0009463 "internal carotid arteries, hypoplasia of" 0 1 0 0 0 0 MONDO:0019076 "circumscribed palmoplantar hypokeratosis" 1 1 0 0 0 0 MONDO:0005061 "lung adenocarcinoma" 1 11 0 0 0 1 MONDO:0006139 "cervical metaplasia" 1 3 0 0 0 0 -MONDO:0001822 "hypolipoproteinemia" 1 7 0 0 0 0 +MONDO:0001822 "hypolipoproteinemia" 1 6 0 0 0 0 http://identifiers.org/hgnc/8754 "PCYT1A" 0 0 0 0 0 0 MONDO:0017501 "congenital absence of both lower leg and foot, bilateral" 0 3 0 0 0 0 MONDO:0002286 "renal artery disease" 1 6 0 0 0 1 -MONDO:0016003 "ehrlichiosis" 1 11 0 0 0 0 +MONDO:0016003 "ehrlichiosis" 1 9 0 0 0 0 MONDO:0021222 "lacrimal gland neoplasm" 1 1 0 0 0 1 MONDO:0003401 "central nervous system endodermal sinus tumor" 1 3 0 0 0 1 MONDO:0009398 "hyperphosphatasia with intellectual disability syndrome 1" 1 4 0 0 0 1 @@ -25955,7 +25977,7 @@ SO:0001877 "lncRNA" 1 0 0 0 0 0 NCBITaxon:777 "Coxiella burnetii" 0 2 0 0 0 0 MONDO:0018678 "polyclonal hyperviscosity syndrome" 0 3 0 0 0 0 GO:0022407 "regulation of cell-cell adhesion" 1 0 0 0 0 1 -MONDO:0010144 "tibial hemimelia" 1 6 0 0 0 0 +MONDO:0010144 "tibial hemimelia" 1 5 0 0 0 0 MONDO:0024518 "reactive thrombocytosis" 1 3 0 0 0 0 UBERON:0001556 "lower urinary tract" 0 0 0 0 0 0 MONDO:0004831 "proliferative fasciitis" 1 4 0 0 0 0 @@ -25968,7 +25990,7 @@ MONDO:0003498 "obsolete gallbladder squamous cell carcinoma" 0 0 0 0 0 0 MONDO:0043985 "central nervous system lupus" 1 3 0 0 0 0 UBERON:0008202 "bone of hip region" 0 0 0 0 0 0 UBERON:0003980 "cerebellum fissure" 0 0 0 0 0 1 -MONDO:0012604 "isolated microphthalmia 3" 1 6 0 0 0 1 +MONDO:0012604 "isolated microphthalmia 3" 1 5 0 0 0 1 http://identifiers.org/hgnc/3551 "F9" 0 0 0 0 0 0 http://identifiers.org/hgnc/16973 "PPP1R17" 0 0 0 0 0 0 UBERON:0004269 "upper arm connective tissue" 0 0 0 0 0 1 @@ -26015,15 +26037,15 @@ NCBITaxon:11266 "Filoviridae" 0 1 0 0 0 0 GO:1903282 "regulation of glutathione peroxidase activity" 1 0 0 0 0 1 MONDO:0012549 "autosomal recessive ataxia, Beauce type" 1 7 0 0 0 0 MONDO:0016222 "spindle cell hemangioma" 1 9 0 0 0 1 -MONDO:0020369 "Chandler syndrome" 1 11 0 0 0 0 +MONDO:0020369 "Chandler syndrome" 1 10 0 0 0 0 FOODON:03420177 "gluten"@en 1 1 0 0 0 1 MONDO:0008297 "variegate porphyria" 1 9 0 0 0 0 MONDO:0009513 "laryngo-onycho-cutaneous syndrome" 1 7 0 0 0 0 CHR:9606-chrY "chromosome Y (Human)" 0 0 0 0 0 0 UBERON:0010801 "calcaneum pre-cartilage condensation" 0 0 0 0 0 1 UBERON:0002180 "ventral funiculus of spinal cord" 0 0 0 0 0 0 -MONDO:0014798 "brachydactyly type A1D" 1 3 0 0 0 1 -MONDO:0019889 "distal trisomy 22q" 1 3 0 0 0 0 +MONDO:0014798 "brachydactyly type A1D" 1 3 0 0 0 0 +MONDO:0019889 "distal trisomy 22q" 1 2 0 0 0 0 MONDO:0009791 "oral sensibility, disturbance of" 0 2 0 0 0 0 MONDO:0005641 "aleutian mink disease" 1 6 0 0 0 1 ENVO:03000110 "cryoform"@en 1 0 0 0 0 1 @@ -26042,7 +26064,7 @@ MONDO:0000846 "obsolete craniodiaphyseal dysplasia" 0 0 0 0 0 0 GO:0051194 "obsolete positive regulation of cofactor metabolic process" 1 0 0 0 0 0 MONDO:0021441 "benign neoplasm of exocrine pancreas" 1 3 0 0 0 1 MONDO:0011870 "annular epidermolytic ichthyosis" 1 7 0 0 0 0 -MONDO:0013721 "complement component 4a deficiency" 1 6 0 0 0 1 +MONDO:0013721 "complement component 4a deficiency" 1 5 0 0 0 1 MONDO:0021271 "villous adenoma of colon" 1 3 0 0 0 1 MONDO:0011550 "fibromatosis, gingival, with hypertrichosis and intellectual disability" 0 3 0 0 0 0 MONDO:0018093 "arbovirus fever" 1 3 0 0 0 0 @@ -26052,7 +26074,8 @@ UBERON:0018243 "thymic artery" 0 0 0 0 0 1 HP:0009714 "Abnormality of the epididymis" 1 1 0 0 0 0 MONDO:0100000 "MED12-related intellectual disability syndrome" 1 0 0 0 0 1 MONDO:0017189 "adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia" 1 4 0 0 0 0 -MONDO:0005129 "cataract" 1 17 0 0 0 0 +MONDO:0007139 "obsolete Antipyrine metabolism" 0 2 0 0 0 0 +MONDO:0005129 "cataract" 1 16 0 0 0 0 MONDO:0007225 "fibular aplasia-ectrodactyly syndrome" 1 6 0 0 0 0 FOODON:03315150 "mammalian milk product"@en 0 1 0 0 0 0 MONDO:0013232 "brachydactylous dwarfism, Mseleni type" 1 7 0 0 0 0 @@ -26076,7 +26099,7 @@ UBERON:0005843 "sacral spinal cord" 0 0 0 0 0 1 CHEBI:28976 "carbonic acid" 0 0 0 0 0 0 PATO:0070002 "basket cell morphology" 1 0 0 0 0 0 UBERON:0011273 "nail of manual digit 1" 0 0 0 0 0 1 -MONDO:0002212 "pneumonic tularemia" 1 5 0 0 0 0 +MONDO:0002212 "pneumonic tularemia" 1 4 0 0 0 0 HP:0045005 "Neural tube defect" 1 3 0 0 0 0 MONDO:0015849 "longitudinal vaginal septum" 0 3 0 0 0 0 MONDO:0023607 "Laurence-Prosser-Rocker syndrome" 0 3 0 0 0 0 @@ -26112,7 +26135,7 @@ MONDO:0008047 "episodic ataxia type 1" 1 8 0 0 0 1 MONDO:0043125 "mcpherson robertson cammarano syndrome" 0 3 0 0 0 0 http://identifiers.org/hgnc/3544 "F7" 0 0 0 0 0 0 CHEBI:26743 "sphing-4-enine" 1 0 0 0 0 0 -MONDO:0013540 "deafness-lymphedema-leukemia syndrome" 1 7 0 0 0 0 +MONDO:0013540 "deafness-lymphedema-leukemia syndrome" 1 6 0 0 0 0 NCIT:C53637 "Malignant Spindle Cell" 0 0 0 0 0 0 MONDO:0007893 "Noonan syndrome with multiple lentigines" 1 14 0 0 0 0 NCBITaxon:803 "Bartonella quintana" 0 2 0 0 0 0 @@ -26135,7 +26158,7 @@ MONDO:0033282 "multiple mitochondrial dysfunctions syndrome 5" 0 3 0 0 0 0 NCBITaxon:71585 "Balantioides coli" 0 3 0 0 0 0 MONDO:0002611 "obsolete benign epilepsy with centrotemporal spikes" 0 0 0 0 0 0 http://identifiers.org/hgnc/9291 "PPP1R3A" 0 0 0 0 0 0 -MONDO:0001563 "vestibulocochlear nerve disorder" 1 8 0 0 0 1 +MONDO:0001563 "vestibulocochlear nerve disorder" 1 6 0 0 0 1 http://identifiers.org/hgnc/13711 "POF1B" 0 0 0 0 0 0 UBERON:3000972 "head external integument structure" 0 0 0 0 0 1 MONDO:0013618 "craniofacial anomalies and anterior segment dysgenesis syndrome" 0 2 0 0 0 0 @@ -26171,14 +26194,14 @@ MONDO:0003963 "diffuse infiltrative lymphocytosis syndrome" 1 4 0 0 0 0 GO:0051785 "positive regulation of nuclear division" 1 0 0 0 0 1 GO:0098573 "intrinsic component of mitochondrial membrane" 1 0 0 0 0 1 MONDO:0010931 "vitamin D-dependent rickets, type 2B" 1 5 0 0 0 0 -MONDO:0012442 "autosomal recessive nonsyndromic hearing loss 66" 1 5 0 0 0 1 +MONDO:0012442 "autosomal recessive nonsyndromic hearing loss 66" 1 4 0 0 0 1 MONDO:0007768 "hyperparathyroidism 2 with jaw tumors" 1 7 0 0 0 0 MONDO:0020474 "cheirospondyloenchondromatosis" 1 3 0 0 0 0 MONDO:0004413 "cervical non-keratinizing squamous cell carcinoma" 1 3 0 0 0 0 UBERON:0002200 "vasculature of head" 0 0 0 0 0 1 http://identifiers.org/hgnc/10360 "RPL5" 0 0 0 0 0 0 MONDO:0003568 "disorder of optic chiasm" 1 6 0 0 0 1 -MONDO:0006998 "tonsil cancer" 1 11 0 0 0 1 +MONDO:0006998 "tonsil cancer" 1 10 0 0 0 1 MONDO:0009686 "musk, inability to smell" 0 3 0 0 0 0 GO:0015723 "bilirubin transport" 1 0 0 0 0 0 MONDO:0007076 "obsolete ocular albinism with sensorineural deafness" 0 0 0 0 0 0 @@ -26190,10 +26213,10 @@ NCBITaxon:43733 "Muscomorpha" 0 1 0 0 0 0 UBERON:0035529 "left common iliac artery" 0 0 0 0 0 1 GO:0001848 "complement binding" 1 0 0 0 0 0 MONDO:0015326 "night blindness-skeletal anomalies-dysmorphism syndrome" 1 4 0 0 0 0 -MONDO:0004768 "keratoconjunctivitis" 1 11 0 0 0 1 +MONDO:0004768 "keratoconjunctivitis" 1 10 0 0 0 1 MONDO:0015271 "idiopathic camptocormia" 1 6 0 0 0 0 GO:0008211 "glucocorticoid metabolic process" 1 0 0 0 0 0 -MONDO:0001440 "neurotrophic keratoconjunctivitis" 0 5 0 0 0 0 +MONDO:0001440 "neurotrophic keratoconjunctivitis" 0 4 0 0 0 0 MONDO:0013640 "familial retinal arterial macroaneurysm" 0 5 0 0 0 0 HP:0000504 "Abnormality of vision" 1 1 0 0 0 0 MONDO:0022901 "Crohn disease of the esophagus" 1 2 0 0 0 1 @@ -26201,6 +26224,7 @@ MONDO:0022201 "obsolete has treatment by surgery" 0 0 0 0 0 0 MONDO:0018008 "idiopathic giant cell myocarditis" 0 2 0 0 0 0 CHEBI:17087 "ketone" 1 0 0 0 0 0 MONDO:0003342 "benign perivascular tumor" 1 3 0 0 0 1 +MONDO:0044967 "obsolete limb disorder" 1 3 0 0 0 0 MONDO:0020087 "genetic lipodystrophy" 1 4 0 0 0 1 GO:1900372 "negative regulation of purine nucleotide biosynthetic process" 1 0 0 0 0 1 MONDO:0016684 "anaplastic astrocytoma" 1 12 0 0 0 1 @@ -26218,25 +26242,25 @@ MONDO:0042973 "familial osteosclerosis" 1 1 0 0 0 1 MONDO:0009244 "Freesia Flowers, inability to smell" 0 1 0 0 0 0 MONDO:0019286 "sebaceous gland anomaly" 1 1 0 0 0 1 MONDO:0010101 "Teebi-Shaltout syndrome" 1 5 0 0 0 0 -MONDO:0015483 "mandibulofacial dysostosis" 1 4 0 0 0 0 +MONDO:0015483 "mandibulofacial dysostosis" 1 3 0 0 0 0 MONDO:0010348 "dyslexia, susceptibility to, 9" 0 1 0 0 0 0 MONDO:0018027 "duplication/inversion 15q11" 1 5 0 0 0 0 HP:0040215 "Abnormal circulating insulin level" 1 1 0 0 0 0 MONDO:0017789 "idiopathic linear interstitial keratitis" 1 2 0 0 0 0 MONDO:0045030 "non-infectious diarrheal disease" 0 2 0 0 0 0 -MONDO:0003319 "scrotum neoplasm" 1 10 0 0 0 1 +MONDO:0003319 "scrotum neoplasm" 1 9 0 0 0 1 MONDO:0012281 "obsolete sarcoidosis, early-onset" 0 0 0 0 0 0 -MONDO:0000916 "intestinal infectious disease" 1 8 0 0 0 1 +MONDO:0000916 "intestinal infectious disease" 1 7 0 0 0 1 MONDO:0000210 "thiopurine metabolic disease" 0 1 0 0 0 0 MONDO:0032650 "neurodegeneration, childhood-onset, with cerebellar atrophy" 0 1 0 0 0 0 MONDO:0000914 "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1" 1 10 0 0 0 1 GO:0033240 "positive regulation of cellular amine metabolic process" 1 0 0 0 0 1 -MONDO:0000979 "pinta disease" 1 19 0 0 0 0 +MONDO:0000979 "pinta disease" 1 13 0 0 0 0 MONDO:0016116 "generalized bulbospinal muscular atrophy" 0 2 0 0 0 0 MONDO:0010763 "spermatogenic failure, Y-linked, 1" 0 3 0 0 0 0 UBERON:0018649 "cardiac muscle tissue of ventricle" 0 0 0 0 0 1 MONDO:0012771 "asthma-related traits, susceptibility to, 7" 1 1 0 0 0 1 -MONDO:0001774 "posterior scleritis" 0 5 0 0 0 0 +MONDO:0001774 "posterior scleritis" 0 4 0 0 0 0 MONDO:0016050 "obsolete thiamine-responsive encephalopathy" 0 0 0 0 0 0 MONDO:0012872 "thrombophilia, familial, due to decreased release of tissue plasminogen activator" 0 2 0 0 0 0 UBERON:0010890 "pelvic complex muscle" 0 0 0 0 0 1 @@ -26247,7 +26271,7 @@ CL:0000981 "double negative memory B cell" 1 0 0 0 0 0 MONDO:0044992 "mouth mucosa disorder" 1 2 0 0 0 1 UBERON:0002453 "ethmoid sinus" 0 0 0 0 0 0 MONDO:0003622 "pancreatic vasoactive intestinal peptide producing tumor" 1 3 0 0 0 0 -MONDO:0016367 "dermatomyositis" 1 15 0 0 0 1 +MONDO:0016367 "dermatomyositis" 1 12 0 0 0 1 MONDO:0013535 "hydroxyacyl glutathione hydrolase deficiency" 0 3 0 0 0 0 UBERON:0011277 "nail of manual digit 5" 0 0 0 0 0 1 http://identifiers.org/hgnc/18871 "MMAA" 0 0 0 0 0 0 @@ -26282,15 +26306,15 @@ ENVO:03000111 "snow mass"@en 1 0 0 0 0 1 http://identifiers.org/hgnc/7216 "MPI" 0 0 0 0 0 0 MONDO:0015484 "cysticercosis" 1 16 0 0 0 0 UBERON:0004861 "right lung alveolus" 0 0 0 0 0 1 -MONDO:0001050 "malignant otitis externa" 1 6 0 0 0 0 +MONDO:0001050 "malignant otitis externa" 1 5 0 0 0 0 MONDO:0001568 "mixed receptive-expressive language disorder" 1 5 0 0 0 0 MONDO:0019795 "acalvaria" 1 6 0 0 0 0 MONDO:0010767 "spermatogenic failure, Y-linked, 2" 0 4 0 0 0 0 MONDO:0006789 "hyperamylasemia" 1 4 0 0 0 0 -MONDO:0008312 "autosomal dominant prognathism" 1 6 0 0 0 0 +MONDO:0008312 "autosomal dominant prognathism" 1 5 0 0 0 0 UBERON:0000490 "unilaminar epithelium" 0 0 0 0 0 0 MONDO:0007895 "platyspondylic dysplasia, Torrance type" 0 7 0 0 0 0 -MONDO:0011657 "autosomal dominant nonsyndromic hearing loss 24" 1 6 0 0 0 0 +MONDO:0011657 "autosomal dominant nonsyndromic hearing loss 24" 1 5 0 0 0 0 UBERON:0007386 "pelvic appendage lymph vessel" 0 0 0 0 0 1 MONDO:0004432 "mature pericardial teratoma" 1 3 0 0 0 1 HP:0001396 "Cholestasis" 1 5 0 0 0 0 @@ -26360,8 +26384,8 @@ GO:0043648 "dicarboxylic acid metabolic process" 1 0 0 0 0 0 MONDO:0008979 "chorea, benign familial" 1 6 0 0 0 0 HP:0000119 "Abnormality of the genitourinary system" 1 6 0 0 0 0 UBERON:0001611 "sublingual artery" 0 0 0 0 0 1 -MONDO:0012662 "Usher syndrome type 2D" 1 5 0 0 0 1 -MONDO:0005377 "nephrotic syndrome" 1 19 0 0 0 0 +MONDO:0012662 "Usher syndrome type 2D" 1 4 0 0 0 1 +MONDO:0005377 "nephrotic syndrome" 1 18 0 0 0 0 http://identifiers.org/hgnc/15512 "VANGL1" 0 0 0 0 0 0 CHR:9606-chr6q "6q (Human)" 0 0 0 0 0 0 MONDO:0100381 "acute myeloid leukemia, t(6;11)(q27;q23)" 1 2 0 0 0 0 @@ -26369,7 +26393,7 @@ MONDO:0005744 "yolk sac tumor" 1 12 0 0 0 0 CL:0002109 "B220-positive CD38-positive naive B cell" 1 0 0 0 0 0 http://identifiers.org/hgnc/11847 "TLR1" 0 0 0 0 0 0 MONDO:0013507 "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3" 0 4 0 0 0 0 -MONDO:0013276 "Reynolds syndrome" 1 7 0 0 0 0 +MONDO:0013276 "Reynolds syndrome" 1 5 0 0 0 0 MONDO:0007371 "cornea guttata with anterior polar cataracts" 0 4 0 0 0 0 MONDO:0006960 "sciatic neuropathy" 1 6 0 0 0 0 CHEBI:33521 "metal atom" 1 0 0 0 0 0 @@ -26411,12 +26435,12 @@ MONDO:0016742 "mixed germ cell tumor of central nervous system" 1 4 0 0 0 1 MONDO:0008699 "achalasia microcephaly syndrome" 1 8 0 0 0 0 http://identifiers.org/hgnc/6826 "MAN2B1" 0 0 0 0 0 0 MONDO:0008643 "veins, pattern of, on anterior thorax" 0 1 0 0 0 0 -MONDO:0001914 "scleromalacia perforans" 1 5 0 0 0 0 +MONDO:0001914 "scleromalacia perforans" 1 4 0 0 0 0 http://identifiers.org/hgnc/15511 "VANGL2" 0 0 0 0 0 0 PO:0009008 "plant organ" 1 1 0 0 0 0 MONDO:0014707 "14q32 duplication syndrome" 1 3 0 0 0 1 http://identifiers.org/hgnc/11848 "TLR2" 0 0 0 0 0 0 -MONDO:0004946 "hypoglycemia" 1 8 0 0 0 0 +MONDO:0004946 "hypoglycemia" 1 7 0 0 0 0 NCBITaxon:548681 "Herpesvirales" 0 1 0 0 0 0 ENVO:01000216 "montane shrubland biome" 1 0 0 0 0 0 MONDO:0005752 "epidural abscess" 1 5 0 0 0 0 @@ -26460,9 +26484,9 @@ HP:0011042 "Abnormal blood potassium concentration" 1 1 0 0 0 0 UBERON:0001750 "lacrimal apparatus" 0 0 0 0 0 0 MONDO:0008407 "neurogenic scapuloperoneal syndrome, Kaeser type" 0 7 0 0 0 0 MONDO:0005131 "cervical carcinoma" 1 7 0 0 0 1 -MONDO:0009053 "ALDH18A1-related de Barsy syndrome" 1 8 0 0 0 0 +MONDO:0009053 "ALDH18A1-related de Barsy syndrome" 1 7 0 0 0 0 MONDO:0009406 "hypertrichotic osteochondrodysplasia Cantu type" 1 8 0 0 0 0 -MONDO:0005530 "opiate dependence" 1 7 0 0 0 0 +MONDO:0005530 "opiate dependence" 1 6 0 0 0 0 HP:0100774 "Hyperostosis" 1 4 0 0 0 0 UBERON:0000456 "secretion of exocrine gland" 0 0 0 0 0 1 http://identifiers.org/hgnc/23845 "SLX4" 0 0 0 0 0 0 @@ -26501,7 +26525,7 @@ MONDO:0008630 "urinary bladder, atony of" 0 1 0 0 0 0 MONDO:0003045 "anal gland neoplasm" 1 4 0 0 0 1 GO:1903552 "negative regulation of extracellular exosome assembly" 1 0 0 0 0 1 MONDO:0001782 "mature cataract" 1 3 0 0 0 0 -MONDO:0005011 "Crohn disease" 1 11 0 0 0 0 +MONDO:0005011 "Crohn disease" 1 10 0 0 0 0 UBERON:0013526 "otocyst lumen" 0 0 0 0 0 1 HP:0003418 "Back pain" 1 3 0 0 0 0 MONDO:0000126 "obsolete gastric cancer" 0 0 0 0 0 0 @@ -26524,7 +26548,7 @@ MONDO:0013189 "trichotillomania" 1 8 0 0 0 0 MONDO:0003512 "mediastinal mesenchymal tumor" 1 3 0 0 0 1 MONDO:0017948 "ABetaA21G amyloidosis" 1 4 0 0 0 0 MONDO:0012769 "prostate cancer, hereditary, 14" 0 4 0 0 0 0 -MONDO:0004667 "sublingual gland cancer" 1 6 0 0 0 1 +MONDO:0004667 "sublingual gland cancer" 1 5 0 0 0 1 UBERON:0001143 "hepatic vein" 0 0 0 0 0 1 CHR:9606-chr11p15.4 "11p15.4 (Human)" 0 0 0 0 0 0 MONDO:0008640 "vasculitis, lymphocytic, nodular" 1 4 0 0 0 1 @@ -26535,7 +26559,7 @@ GO:0002384 "hepatic immune response" 1 0 0 0 0 0 MONDO:0030065 "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" 0 1 0 0 0 0 MONDO:0014849 "obsolete autosomal recessive nonsyndromic deafness 105" 0 1 0 0 0 0 UBERON:0010009 "aggregate regional part of brain" 0 0 0 0 0 1 -MONDO:0007191 "Behcet disease" 1 12 0 0 0 0 +MONDO:0007191 "Behcet disease" 1 11 0 0 0 0 MONDO:0010699 "Charcot-Marie-Tooth disease X-linked recessive 5" 1 7 0 0 0 0 http://identifiers.org/hgnc/3542 "F5" 0 0 0 0 0 0 MONDO:0004737 "homocystinuria" 1 10 0 0 0 1 @@ -26560,7 +26584,7 @@ MONDO:0010435 "nystagmus 6, congenital, X-linked" 0 2 0 0 0 0 CL:1000500 "kidney interstitial cell" 0 1 0 0 0 1 MONDO:0010730 "combined immunodeficiency, X-linked" 0 1 0 0 0 0 UBERON:0004427 "proximal epiphysis of first metatarsal bone" 0 0 0 0 0 1 -MONDO:0006815 "jejunal cancer" 1 8 0 0 0 1 +MONDO:0006815 "jejunal cancer" 1 7 0 0 0 1 MONDO:0006021 "Prinzmetal angina" 1 11 0 0 0 0 GO:0042158 "lipoprotein biosynthetic process" 1 0 0 0 0 0 UBERON:0007271 "appendage musculature" 0 0 0 0 0 1 @@ -26569,8 +26593,9 @@ HP:0001482 "Subcutaneous nodule" 1 3 0 0 0 0 GO:0045779 "negative regulation of bone resorption" 1 0 0 0 0 1 MONDO:0011023 "hereditary mixed polyposis syndrome" 1 8 0 0 0 0 UBERON:0016554 "white matter of midbrain" 0 0 0 0 0 1 +MONDO:0020057 "obsolete uniparental disomy of paternal origin" 0 3 0 0 0 0 MONDO:0005250 "placental villitis" 1 3 0 0 0 1 -MONDO:0002815 "acute myocarditis" 1 9 0 0 0 1 +MONDO:0002815 "acute myocarditis" 1 8 0 0 0 1 MONDO:0009024 "cortical blindness-intellectual disability-polydactyly syndrome" 1 5 0 0 0 0 http://identifiers.org/hgnc/6572 "LGI1" 0 0 0 0 0 0 UBERON:0002247 "uterine horn" 0 0 0 0 0 0 @@ -26630,7 +26655,6 @@ FOODON:03411201 "dairy cow"@en 1 0 0 0 0 1 MONDO:0015261 "pseudopelade of Brocq" 1 5 0 0 0 0 ECTO:9001701 "exposure to reagent" 1 0 0 0 0 1 MONDO:0015339 "adrenomyeloneuropathy" 1 6 0 0 0 0 -MONDO:0021059 "head or neck disorder/disorder" 1 2 0 0 0 1 UBERON:0000325 "gastric gland" 0 0 0 0 0 0 GO:0045989 "positive regulation of striated muscle contraction" 1 0 0 0 0 1 MONDO:0018540 "PFAPA syndrome" 1 7 0 0 0 0 @@ -26670,7 +26694,7 @@ CHEBI:33743 "manganese group molecular entity" 0 0 0 0 0 0 http://identifiers.org/hgnc/3444 "ERF" 0 0 0 0 0 0 UBERON:0005753 "caudal part of nephrogenic cord" 0 0 0 0 0 0 MONDO:0000053 "obsolete macroglobulinemia, Waldenstrom" 0 0 0 0 0 0 -MONDO:0017727 "fixed subaortic stenosis" 1 3 0 0 0 0 +MONDO:0017727 "fixed subaortic stenosis" 1 2 0 0 0 0 NCBITaxon:5593 "Microascaceae" 0 1 0 0 0 0 MONDO:0014413 "orofaciodigital syndrome type 14" 1 5 0 0 0 1 MONDO:0005474 "obsolete non-small cell lung adenocarcinoma" 0 0 0 0 0 0 @@ -26704,7 +26728,7 @@ GO:0090482 "vitamin transmembrane transporter activity" 1 0 0 0 0 0 MONDO:0000136 "keratosis follicularis spinulosa decalvans" 1 9 0 0 0 0 MONDO:0043123 "massa casaer ceulemans syndrome" 0 3 0 0 0 0 MONDO:0003362 "cutaneous leiomyosarcoma" 1 5 0 0 0 1 -MONDO:0005714 "congenital syphilis" 1 11 0 0 0 1 +MONDO:0005714 "congenital syphilis" 1 10 0 0 0 1 MONDO:0100050 "Usher syndrome, type 1D/F" 1 1 0 0 0 1 MONDO:0001141 "middle ear cholesterol granuloma" 1 5 0 0 0 0 FOODON:03420295 "fruit seed (anatomical part)"@en 1 0 0 0 0 0 @@ -26719,15 +26743,15 @@ MONDO:0003964 "myositis ossificans" 1 4 0 0 0 0 MONDO:0037939 "porphyria" 1 1 0 0 0 0 MONDO:0020466 "monosomy X" 0 6 0 0 0 1 MONDO:0001606 "central nervous system leukemia" 1 3 0 0 0 1 -MONDO:0001742 "interval angle-closure glaucoma" 0 5 0 0 0 0 +MONDO:0001742 "interval angle-closure glaucoma" 0 4 0 0 0 0 MONDO:0010443 "macular degeneration, X-linked atrophic" 0 2 0 0 0 0 MONDO:0010859 "atrioventricular septal defect 3" 1 3 0 0 0 1 MONDO:0014840 "agammaglobulinemia 8, autosomal dominant" 1 2 0 0 0 1 GO:0090285 "negative regulation of protein glycosylation in Golgi" 1 0 0 0 0 1 MONDO:0006337 "ovarian endometriosis" 1 7 0 0 0 1 MONDO:0013790 "mirror movements 2" 1 3 0 0 0 1 -MONDO:0005025 "endocarditis" 1 9 0 0 0 1 -MONDO:0001775 "chronic duodenal ileus" 0 5 0 0 0 0 +MONDO:0005025 "endocarditis" 1 8 0 0 0 1 +MONDO:0001775 "chronic duodenal ileus" 0 4 0 0 0 0 NCBITaxon:2805591 "Tropherymataceae" 0 1 0 0 0 0 http://identifiers.org/hgnc/12762 "WFS1" 0 0 0 0 0 0 UBERON:0006642 "muscle layer of oviduct" 0 0 0 0 0 1 @@ -26736,14 +26760,14 @@ GO:0038023 "signaling receptor activity" 1 0 0 0 0 0 MONDO:0000631 "bone benign neoplasm" 1 4 0 0 0 1 MONDO:0007901 "levator-medial rectus synkinesis" 0 3 0 0 0 0 MONDO:0014167 "epilepsy, familial adult myoclonic, 5" 1 4 0 0 0 1 -MONDO:0013823 "autosomal dominant nonsyndromic hearing loss 4B" 1 4 0 0 0 1 +MONDO:0013823 "autosomal dominant nonsyndromic hearing loss 4B" 1 3 0 0 0 1 CL:1000492 "mesothelial cell of parietal pleura" 1 1 0 0 0 1 http://identifiers.org/hgnc/4036 "FYB1" 0 0 0 0 0 0 MONDO:0004935 "acquired carotenemia" 0 3 0 0 0 1 CHEBI:136849 "3-oxo-Delta(4)-steroid group" 1 0 0 0 0 0 UBERON:0005085 "ectodermal placode" 0 0 0 0 0 0 MONDO:0060774 "vaginal fibroepithelial polyp" 1 2 0 0 0 1 -MONDO:0003619 "salpingitis" 1 6 0 0 0 1 +MONDO:0003619 "salpingitis" 1 5 0 0 0 1 MONDO:0005767 "gas gangrene" 1 7 0 0 0 0 MONDO:0008350 "pulmonic stenosis and deafness" 0 2 0 0 0 0 MONDO:0023100 "facial clefting corpus callosum agenesis" 0 1 0 0 0 0 @@ -26753,11 +26777,11 @@ NCBITaxon:1781 "Mycobacterium marinum" 0 2 0 0 0 0 FOODON:03400217 "meat, poultry, seafood or related product (us cfr)"@en 1 1 0 0 0 0 MONDO:0060627 "glycosylphosphatidylinositol biosynthesis defect 15" 0 3 0 0 0 0 MONDO:0020386 "double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis" 0 4 0 0 0 0 -MONDO:0005439 "familial hypercholesterolemia" 1 12 0 0 0 1 +MONDO:0005439 "familial hypercholesterolemia" 1 11 0 0 0 1 GO:0002719 "negative regulation of cytokine production involved in immune response" 1 0 0 0 0 1 MONDO:0006369 "pineal parenchymal tumor of intermediate differentiation" 1 7 0 0 0 0 http://identifiers.org/hgnc/3765 "FLT3" 0 0 0 0 0 0 -MONDO:0020022 "central nervous system malformation" 0 2 0 0 0 0 +MONDO:0020022 "central nervous system malformation" 0 3 0 0 0 0 MONDO:0019575 "hypotrichosis simplex of the scalp" 1 5 0 0 0 0 UBERON:0006589 "round ligament of uterus" 0 0 0 0 0 0 MONDO:0019689 "perlecan-related bone disorder" 0 2 0 0 0 0 @@ -26793,7 +26817,7 @@ ECTO:0000487 "exposure to chemical with chemical role" 1 0 0 0 0 1 MONDO:0020746 "contractures, pterygia, and variable skeletal fusions syndrome 1B" 0 1 0 0 0 1 MONDO:0014964 "obsolete encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" 0 0 0 0 0 0 NCBITaxon:452563 "Cladosporiaceae" 0 2 0 0 0 0 -MONDO:0012445 "autosomal recessive nonsyndromic hearing loss 59" 1 5 0 0 0 1 +MONDO:0012445 "autosomal recessive nonsyndromic hearing loss 59" 1 4 0 0 0 1 MONDO:0007362 "cone-rod dystrophy 2" 1 8 0 0 0 1 MONDO:0018629 "focal stiff limb syndrome" 0 4 0 0 0 0 MONDO:0005614 "pancreatic adenosquamous carcinoma" 1 5 0 0 0 1 @@ -26832,9 +26856,9 @@ NCBITaxon:242060 "Cystoisospora" 0 1 0 0 0 0 MONDO:0003111 "gastric neuroendocrine neoplasm" 1 5 0 0 0 1 http://identifiers.org/hgnc/7497 "MT-TS1" 0 0 0 0 0 0 MONDO:0004211 "L-cell glucagon-like peptide-producing neuroendocrine tumor" 1 4 0 0 0 0 -MONDO:0011142 "Ehlers-Danlos syndrome, musculocontractural type" 1 7 0 0 0 0 +MONDO:0011142 "Ehlers-Danlos syndrome, musculocontractural type" 1 8 0 0 0 0 UBERON:0003269 "skeletal muscle tissue of eye" 0 0 0 0 0 1 -MONDO:0001253 "obsolete solar retinopathy" 0 5 0 0 0 0 +MONDO:0001253 "obsolete solar retinopathy" 0 4 0 0 0 0 NCBITaxon:186625 "Clupeocephala" 0 1 0 0 0 0 MONDO:0018045 "Hoyeraal-Hreidarsson syndrome" 1 12 0 0 0 0 MONDO:0011180 "broad terminal phalanges, familial" 0 3 0 0 0 0 @@ -26842,11 +26866,12 @@ UBERON:0015281 "pancreas right lobe" 0 0 0 0 0 1 UBERON:0003968 "peripheral lymph node" 0 0 0 0 0 0 MONDO:0007361 "C1 inhibitor deficiency" 0 6 0 0 0 0 MONDO:0008663 "snowflake vitreoretinal degeneration" 1 7 0 0 0 0 +MONDO:0020056 "obsolete uniparental disomy of maternal origin" 0 3 0 0 0 0 UBERON:0007175 "inferior angle of scapula" 0 0 0 0 0 0 CL:0000473 "defensive cell" 1 0 0 0 0 0 UBERON:0010743 "meningeal cluster" 0 0 0 0 0 1 MONDO:0004580 "retinal degeneration" 1 4 0 0 0 0 -MONDO:0008675 "freeman-Sheldon syndrome" 1 12 0 0 0 0 +MONDO:0008675 "freeman-Sheldon syndrome" 1 11 0 0 0 0 CHEBI:26895 "tetracyclines" 1 0 0 0 0 0 http://identifiers.org/hgnc/19743 "POMT2" 0 0 0 0 0 0 MONDO:0013577 "Lipedema" 1 7 0 0 0 0 @@ -26871,7 +26896,7 @@ http://identifiers.org/hgnc/5716 "IGKC" 0 0 0 0 0 0 MONDO:0016386 "hypogonadotropic hypogonadism-retinitis pigmentosa syndrome" 1 3 0 0 0 0 MONDO:0012653 "persistent hyperplastic primary vitreous, autosomal dominant" 0 3 0 0 0 0 MONDO:0015964 "obsolete obsolete rare genetic palpebral, lacrimal system and conjunctival disease" 0 0 0 0 0 0 -MONDO:0007280 "cataract 8 multiple types" 1 8 0 0 0 0 +MONDO:0007280 "cataract 8 multiple types" 1 7 0 0 0 0 MONDO:0003783 "lymphopenia" 1 8 0 0 0 0 MONDO:0044231 "obsolete eyebrow, whorl 1n" 0 1 0 0 0 0 MONDO:0030020 "combined oxidative phosphorylation deficiency 44" 0 1 0 0 0 0 @@ -26883,7 +26908,7 @@ HP:0001952 "Glucose intolerance" 1 1 0 0 0 0 http://identifiers.org/hgnc/7498 "MT-TS2" 0 0 0 0 0 0 GO:0051957 "positive regulation of amino acid transport" 1 0 0 0 0 1 MONDO:0013444 "nephronophthisis 9" 1 4 0 0 0 1 -MONDO:0017762 "disorder of copper metabolism" 1 7 0 0 0 1 +MONDO:0017762 "disorder of copper metabolism" 1 6 0 0 0 1 MONDO:0024461 "angiomatosis" 1 4 0 0 0 0 CHEBI:35623 "anticonvulsant" 1 0 0 0 0 0 MONDO:0019857 "congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies" 1 4 0 0 0 0 @@ -26911,8 +26936,8 @@ http://identifiers.org/hgnc/17075 "TAB2" 0 0 0 0 0 0 CL:0000094 "granulocyte" 1 4 0 0 0 0 CHEBI:37327 "isoalloxazine" 0 0 0 0 0 0 MONDO:0008721 "medium chain acyl-CoA dehydrogenase deficiency" 1 11 0 0 0 1 -MONDO:0012128 "dextro-looped transposition of the great arteries 1" 1 7 0 0 0 1 -MONDO:0000750 "dental abscess" 1 4 0 0 0 0 +MONDO:0012128 "dextro-looped transposition of the great arteries 1" 1 6 0 0 0 1 +MONDO:0000750 "dental abscess" 1 3 0 0 0 0 MONDO:0000385 "benign digestive system neoplasm" 1 3 0 0 0 1 MONDO:0017260 "obsolete systemic diseases with posterior uveitis" 0 2 0 0 0 0 http://identifiers.org/hgnc/16297 "UPB1" 0 0 0 0 0 0 @@ -26933,7 +26958,7 @@ http://identifiers.org/hgnc/7432 "MTHFD1" 0 0 0 0 0 0 MONDO:0019951 "rigid spine syndrome" 1 5 0 0 0 0 GO:0000820 "regulation of glutamine family amino acid metabolic process" 1 0 0 0 0 1 http://identifiers.org/hgnc/1037 "CFB" 0 0 0 0 0 0 -MONDO:0005475 "migraine with aura" 1 13 0 0 0 0 +MONDO:0005475 "migraine with aura" 1 11 0 0 0 0 FOODON:03411017 "oil-producing plant"@en 0 0 0 0 0 0 GO:1903303 "negative regulation of pyruvate kinase activity" 1 0 0 0 0 1 MONDO:0012461 "obsolete bulimia nervosa, susceptibility to, 2" 0 1 0 0 0 0 @@ -26945,7 +26970,7 @@ MONDO:0054782 "leukodystrophy, hypomyelinating, 15" 0 2 0 0 0 0 MONDO:0004589 "obsolete hereditary retinal dystrophy" 0 0 0 0 0 0 MONDO:0016266 "squamous cell carcinoma of the corpus uteri" 1 2 0 0 0 1 GO:0042088 "T-helper 1 type immune response" 1 0 0 0 0 0 -MONDO:0018846 "penile agenesis" 1 6 0 0 0 0 +MONDO:0018846 "penile agenesis" 1 5 0 0 0 0 MONDO:0018361 "neonatal scleroderma" 0 2 0 0 0 0 http://identifiers.org/hgnc/950 "BAP1" 0 0 0 0 0 0 FOODON:00001054 "fermented fish or seafood food product"@en 0 0 0 0 0 1 @@ -26957,7 +26982,7 @@ MONDO:0019330 "pili gemini" 1 5 0 0 0 0 MONDO:0015379 "cervical dermoid cyst" 1 3 0 0 0 1 MONDO:0009200 "eyebrow duplication-syndactyly syndrome" 1 5 0 0 0 0 NCBITaxon:6308 "Strongylida" 0 1 0 0 0 0 -MONDO:0005833 "lymphatic system disorder" 1 6 0 0 0 1 +MONDO:0005833 "lymphatic system disorder" 1 7 0 0 0 1 MONDO:0010321 "autism, susceptibility to, X-linked 1" 0 1 0 0 0 1 http://identifiers.org/hgnc/3535 "F2" 0 0 0 0 0 0 UBERON:0010846 "radius pre-cartilage condensation" 0 0 0 0 0 1 @@ -26985,14 +27010,14 @@ MONDO:0008935 "cerebellar ataxia-hypogonadism syndrome" 1 8 0 0 0 0 GO:0099103 "channel activator activity" 1 0 0 0 0 1 http://identifiers.org/hgnc/7436 "MTHFR" 0 0 0 0 0 0 MONDO:0033204 "ciliary dyskinesia, primary, 37" 0 3 0 0 0 0 -MONDO:0015769 "distal trisomy 6p" 1 4 0 0 0 0 +MONDO:0015769 "distal trisomy 6p" 1 3 0 0 0 0 MONDO:0000661 "alexithymia" 1 1 0 0 0 0 -MONDO:0009945 "pyridoxine-dependent epilepsy" 1 9 0 0 0 0 +MONDO:0009945 "pyridoxine-dependent epilepsy" 1 8 0 0 0 0 MONDO:0004226 "diffuse intraductal papillomatosis" 0 3 0 0 0 0 OBI:0000684 "specimen collection objective" 1 0 0 0 0 0 http://identifiers.org/hgnc/9829 "RAF1" 0 0 0 0 0 0 UBERON:0003834 "thoracic segment blood vessel" 0 0 0 0 0 1 -MONDO:0013613 "Leber congenital amaurosis 16" 1 6 0 0 0 1 +MONDO:0013613 "Leber congenital amaurosis 16" 1 5 0 0 0 1 MONDO:0008788 "IRIDA syndrome" 1 6 0 0 0 0 MONDO:0004103 "tall cell variant thyroid gland papillary carcinoma" 1 3 0 0 0 0 HP:0001743 "Abnormality of the spleen" 1 1 0 0 0 0 @@ -27003,12 +27028,12 @@ http://identifiers.org/hgnc/3767 "FLT4" 0 0 0 0 0 0 BFO:0000029 "site"@en 0 0 0 0 0 0 http://identifiers.org/hgnc/11600 "TBX22" 0 0 0 0 0 0 GO:0031982 "vesicle" 1 0 0 0 0 0 -MONDO:0015013 "retinitis pigmentosa 77" 1 4 0 0 0 1 +MONDO:0015013 "retinitis pigmentosa 77" 1 3 0 0 0 1 http://identifiers.org/hgnc/17024 "PHF11" 0 0 0 0 0 0 MONDO:0012808 "dilated cardiomyopathy 1AA" 1 5 0 0 0 1 GO:1902017 "regulation of cilium assembly" 1 0 0 0 0 1 MONDO:0013546 "mitochondrial complex V (ATP synthase) deficiency nuclear type 2" 1 7 0 0 0 0 -MONDO:0013547 "mitochondrial complex V (ATP synthase) deficiency nuclear type 3" 1 5 0 0 0 1 +MONDO:0013547 "mitochondrial complex V (ATP synthase) deficiency nuclear type 3" 1 4 0 0 0 1 MONDO:0035004 "serine biosynthesis pathway deficiency, infantile/juvenile form" 0 1 0 0 0 0 UBERON:0006288 "rib cartilage element" 0 0 0 0 0 1 UBERON:0000323 "late embryo" 0 0 0 0 0 1 @@ -27046,7 +27071,7 @@ GO:0002704 "negative regulation of leukocyte mediated immunity" 1 0 0 0 0 1 MONDO:0020238 "inherited vitreous-retinal disease" 0 2 0 0 0 1 MONDO:0007481 "Leri-Weill dyschondrosteosis" 1 10 0 0 0 0 MONDO:0005200 "viral dilated cardiomyopathy" 1 4 0 0 0 1 -MONDO:0019632 "Lyme disease" 1 12 0 0 0 1 +MONDO:0019632 "Lyme disease" 1 11 0 0 0 1 UBERON:0004341 "primitive streak" 0 0 0 0 0 0 UBERON:0014385 "aryepiglottic fold" 0 0 0 0 0 0 http://identifiers.org/hgnc/6562 "LGALS2" 0 0 0 0 0 0 @@ -27067,7 +27092,7 @@ GO:0006464 "cellular protein modification process" 1 0 0 0 0 0 MONDO:0010639 "laryngeal abductor paralysis-intellectual disability syndrome" 1 5 0 0 0 0 MONDO:0014254 "otofaciocervical syndrome 2" 1 3 0 0 0 1 MONDO:0010849 "palmoplantar keratoderma, Bothnian type" 0 4 0 0 0 0 -MONDO:0014231 "juvenile onset Parkinson disease 19A" 1 5 0 0 0 1 +MONDO:0014231 "juvenile onset Parkinson disease 19A" 1 4 0 0 0 1 MONDO:0009752 "neuropathy, painful" 0 3 0 0 0 0 MONDO:0018147 "idiopathic macular telangiectasia type 3" 1 3 0 0 0 0 NCBITaxon:11723 "Simian immunodeficiency virus" 0 1 0 0 0 0 @@ -27077,7 +27102,7 @@ MONDO:0014632 "hypomyelinating leukodystrophy 10" 1 3 0 0 0 1 MONDO:0015219 "non-syndromic central nervous system malformation" 1 1 0 0 0 1 MONDO:0033555 "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia" 0 1 0 0 0 0 MONDO:0011335 "spondyloepimetaphyseal dysplasia with multiple dislocations" 1 9 0 0 0 0 -MONDO:0007172 "atrial septal defect 1" 1 5 0 0 0 0 +MONDO:0007172 "atrial septal defect 1" 1 4 0 0 0 0 CHEBI:37332 "tropane alkaloid" 0 0 0 0 0 0 MONDO:0020470 "49,XYYYY syndrome" 1 5 0 0 0 0 UBERON:0004100 "renal collecting system" 0 0 0 0 0 0 @@ -27118,7 +27143,7 @@ MONDO:0016588 "infantile mercury poisoning" 1 5 0 0 0 0 MONDO:0009606 "methemoglobinemia due to deficiency of methemoglobin reductase" 0 3 0 0 0 0 CL:0002121 "CD24-negative CD38-negative IgG-negative class switched memory B cell" 1 0 0 0 0 0 MONDO:0017077 "myelocystocele" 0 12 0 0 0 0 -MONDO:0008814 "hyperargininemia" 1 11 0 0 0 0 +MONDO:0008814 "hyperargininemia" 1 10 0 0 0 0 http://identifiers.org/hgnc/6512 "LARS1" 0 0 0 0 0 0 CHEBI:33452 "benzylic group" 1 0 0 0 0 0 GO:0070640 "vitamin D3 metabolic process" 1 0 0 0 0 0 @@ -27133,7 +27158,7 @@ MONDO:0002215 "obsolete atypical teratoid rhabdoid tumor" 0 0 0 0 0 0 MONDO:0043156 "nephrotic syndrome ocular anomalies" 0 3 0 0 0 0 MONDO:0011437 "microcephaly 4, primary, autosomal recessive" 0 4 0 0 0 0 MONDO:0017071 "thoracolumbosacral spina bifida cystica" 0 1 0 0 0 0 -MONDO:0004496 "myocarditis" 1 10 0 0 0 1 +MONDO:0004496 "myocarditis" 1 9 0 0 0 1 CL:1000222 "stomach neuroendocrine cell" 0 0 0 0 0 1 MONDO:0023022 "dwarfism thin bones multiple fractures" 0 1 0 0 0 0 MONDO:0100247 "multiple congenital anomalies-hypotonia-seizures syndrome" 0 1 0 0 0 0 @@ -27145,6 +27170,7 @@ MONDO:0015151 "muscular dystrophy, limb-girdle, autosomal dominant" 1 6 0 0 0 1 MONDO:0008439 "spastic paraplegia-epilepsy-intellectual disability syndrome" 0 6 0 0 0 0 http://identifiers.org/hgnc/6770 "SMAD4" 0 0 0 0 0 0 MONDO:0012294 "obsolete drug metabolism, poor, Cyp2C19-related" 0 3 0 0 0 0 +MONDO:0026768 "obsolete warfarin sensitivity, X-linked" 0 1 0 0 0 0 MONDO:0044993 "sympathetic nervous system disorder" 1 1 0 0 0 1 UBERON:0001350 "coccyx" 0 0 0 0 0 1 http://identifiers.org/hgnc/8975 "PIK3CA" 0 0 0 0 0 0 @@ -27186,7 +27212,7 @@ MONDO:0018341 "3q27.3 microdeletion syndrome" 1 3 0 0 0 1 ENVO:01001357 "desert"@en 1 0 0 0 0 0 GO:0047598 "7-dehydrocholesterol reductase activity" 1 0 0 0 0 0 MONDO:0009156 "ectrodactyly-polydactyly syndrome" 1 6 0 0 0 0 -MONDO:0006362 "peritoneal mesothelioma" 1 6 0 0 0 1 +MONDO:0006362 "peritoneal mesothelioma" 1 5 0 0 0 1 GO:0045938 "positive regulation of circadian sleep/wake cycle, sleep" 1 0 0 0 0 1 GO:1990613 "mitochondrial membrane fusion" 1 0 0 0 0 1 MONDO:0004567 "ileus" 1 6 0 0 0 0 @@ -27201,12 +27227,12 @@ http://identifiers.org/hgnc/18672 "CDK5RAP2" 0 0 0 0 0 0 CL:1000324 "duodenal goblet cell" 1 1 0 0 0 1 http://identifiers.org/hgnc/8604 "PAPSS2" 0 0 0 0 0 0 http://identifiers.org/hgnc/5971 "IL12RB1" 0 0 0 0 0 0 -MONDO:0011660 "autosomal dominant nonsyndromic hearing loss 22" 1 6 0 0 0 1 +MONDO:0011660 "autosomal dominant nonsyndromic hearing loss 22" 1 5 0 0 0 1 HP:0100659 "Abnormal cerebral vascular morphology" 1 1 0 0 0 0 MONDO:0015089 "autosomal recessive complex spastic paraplegia" 1 3 0 0 0 1 UBERON:0004700 "arterial system endothelium" 0 0 0 0 0 1 UBERON:0002437 "cerebral hemisphere white matter" 0 0 0 0 0 1 -MONDO:0024582 "male reproductive system neoplasm" 1 3 0 0 0 1 +MONDO:0024582 "male reproductive system neoplasm" 1 4 0 0 0 1 MONDO:0001902 "congenital agammaglobulinemia" 1 3 0 0 0 1 UBERON:0022351 "parietal serous membrane" 0 0 0 0 0 1 MONDO:0020823 "infantile miliaria" 0 1 0 0 0 0 @@ -27216,7 +27242,7 @@ MONDO:0005944 "Rhabdoviridae infectious disease" 1 3 0 0 0 1 MONDO:0017832 "mycobacterium xenopi infection" 1 4 0 0 0 1 MONDO:0000238 "pestis minor" 1 4 0 0 0 1 http://identifiers.org/hgnc/9008 "PKD1" 0 0 0 0 0 0 -MONDO:0006002 "urogenital tuberculosis" 1 11 0 0 0 1 +MONDO:0006002 "urogenital tuberculosis" 1 9 0 0 0 1 MONDO:0000545 "sublingual gland adenoid cystic carcinoma" 1 1 0 0 0 1 ENVO:01000998 "environmental system determined by a material"@en 1 0 0 0 0 1 http://identifiers.org/hgnc/8977 "PIK3CD" 0 0 0 0 0 0 @@ -27224,11 +27250,11 @@ MONDO:0011756 "Senior-Loken syndrome 4" 1 4 0 0 0 1 MONDO:0002675 "neurofibrosarcoma" 1 3 0 0 0 0 MONDO:0003676 "inferolateral myocardial infarct" 1 2 0 0 0 0 CHEBI:46723 "phosphate mineral" 0 0 0 0 0 0 -MONDO:0020334 "mast cell leukemia" 1 13 0 0 0 0 +MONDO:0020334 "mast cell leukemia" 1 12 0 0 0 0 MONDO:0005407 "childhood eosinophilic esophagitis" 1 1 0 0 0 1 MONDO:0001498 "varicocele" 1 6 0 0 0 1 MONDO:0002362 "serous surface papilloma" 1 4 0 0 0 0 -MONDO:0005113 "bacterial infectious disease" 1 13 0 0 0 1 +MONDO:0005113 "bacterial infectious disease" 1 12 0 0 0 1 MONDO:0001482 "testicular leukemia" 1 3 0 0 0 0 MONDO:0002942 "sebaceous basal cell carcinoma" 0 1 0 0 0 0 MONDO:0003273 "sternum cancer" 1 6 0 0 0 1 @@ -27244,7 +27270,7 @@ GO:0030154 "cell differentiation" 1 0 0 0 0 0 ENVO:01000687 "coast"@en 1 0 0 0 0 1 GO:0017148 "negative regulation of translation" 1 0 0 0 0 1 MONDO:0002187 "vulvar disease" 1 5 0 0 0 0 -MONDO:0015253 "Diamond-Blackfan anemia" 1 27 0 0 0 0 +MONDO:0015253 "Diamond-Blackfan anemia" 1 26 0 0 0 0 MONDO:0010426 "X-linked endothelial corneal dystrophy" 1 7 0 0 0 0 MONDO:0003167 "obsolete pleomorphic xanthoastrocytoma" 0 0 0 0 0 0 MONDO:0000068 "obsolete mucolipidosis" 0 0 0 0 0 0 @@ -27252,7 +27278,7 @@ GO:1904115 "axon cytoplasm" 1 0 0 0 0 1 MONDO:0013768 "arterial calcification, generalized, of infancy, 2" 1 3 0 0 0 1 MONDO:0020254 "obsolete craniostenosis associated with a strabismus" 0 1 0 0 0 0 MONDO:0007881 "tooth agenesis, selective, 4" 1 3 0 0 0 1 -MONDO:0013144 "hereditary antithrombin deficiency" 1 11 0 0 0 0 +MONDO:0013144 "hereditary antithrombin deficiency" 1 10 0 0 0 0 MONDO:0006398 "retroperitoneal inflammatory myofibroblastic tumor" 1 3 0 0 0 1 GO:0030141 "secretory granule" 1 0 0 0 0 0 MONDO:0030529 "agammaglobulinemia 10, autosomal dominant" 0 1 0 0 0 0 @@ -27295,7 +27321,7 @@ MONDO:0000769 "chicken egg allergy" 1 1 0 0 0 0 MONDO:0017308 "obsolete Marfan syndrome type 2" 1 7 0 0 0 0 MONDO:0014245 "Diamond-Blackfan anemia 12" 1 3 0 0 0 1 CL:0000710 "neurecto-epithelial cell" 1 2 0 0 0 1 -MONDO:0002183 "enthesopathy" 1 7 0 0 0 1 +MONDO:0002183 "enthesopathy" 1 6 0 0 0 1 MONDO:0015302 "nodular cutaneous amyloidosis" 1 8 0 0 0 0 UBERON:0009883 "medullary ray" 0 0 0 0 0 0 MONDO:0007377 "granular corneal dystrophy type I" 1 8 0 0 0 0 @@ -27307,14 +27333,14 @@ UBERON:0003583 "larynx connective tissue" 0 0 0 0 0 1 MONDO:0022610 "bronchiectasis oligospermia" 0 1 0 0 0 0 HP:0002198 "Dilated fourth ventricle" 1 1 0 0 0 0 GO:0140056 "organelle localization by membrane tethering" 1 0 0 0 0 0 -MONDO:0011458 "Leber congenital amaurosis 4" 1 9 0 0 0 1 +MONDO:0011458 "Leber congenital amaurosis 4" 1 8 0 0 0 1 GO:0015893 "drug transport" 1 0 0 0 0 0 MONDO:0021351 "neoplasm of neck" 1 4 0 0 0 1 CL:0005022 "vascular lymphangioblast" 1 0 0 0 0 1 HP:0000846 "Adrenal insufficiency" 1 5 0 0 0 0 MONDO:0015674 "late infantile neuronal ceroid lipofuscinosis" 1 10 0 0 0 0 GO:0007215 "glutamate receptor signaling pathway" 1 0 0 0 0 0 -MONDO:0001056 "gastric cancer" 1 20 0 0 0 1 +MONDO:0001056 "gastric cancer" 1 16 0 0 0 1 HP:0000256 "Macrocephaly" 1 5 0 0 0 0 HP:0000708 "Behavioral abnormality" 1 6 0 0 0 0 PATO:0002070 "affinity" 1 0 0 0 0 0 @@ -27359,7 +27385,7 @@ CL:0000242 "Merkel cell" 1 1 0 0 0 0 GO:0002644 "negative regulation of tolerance induction" 1 0 0 0 0 1 MONDO:0020139 "obsolete early-onset ataxia with dementia" 0 1 0 0 0 0 MONDO:0011179 "leishmaniasis, tegumentary, susceptibility to" 0 1 0 0 0 0 -MONDO:0001457 "secondary vitreoretinal degeneration" 0 5 0 0 0 0 +MONDO:0001457 "secondary vitreoretinal degeneration" 0 4 0 0 0 0 MONDO:0009939 "pulmonic stenosis and congenital nephrosis" 0 4 0 0 0 0 ENVO:00000070 "human construction" 1 0 0 0 0 1 http://identifiers.org/hgnc/29594 "UQCRQ" 0 0 0 0 0 0 @@ -27378,11 +27404,11 @@ MONDO:0010250 "intellectual disability, X-linked 49" 0 1 0 0 0 0 UBERON:0004770 "articular system" 0 0 0 0 0 1 MONDO:0008920 "carnitine deficiency, myopathic" 0 4 0 0 0 0 UBERON:0005328 "mesonephric comma-shaped body" 0 0 0 0 0 1 -MONDO:0002185 "hyperostosis" 1 8 0 0 0 0 +MONDO:0002185 "hyperostosis" 1 6 0 0 0 0 NCBITaxon:555407 "Centramoebida" 0 1 0 0 0 0 UBERON:0001305 "ovarian follicle" 0 0 0 0 0 0 NCBITaxon:6029 "Microsporidia" 0 7 0 0 0 0 -MONDO:0001624 "acute sphenoidal sinusitis" 1 6 0 0 0 1 +MONDO:0001624 "acute sphenoidal sinusitis" 1 5 0 0 0 1 UBERON:0004698 "vena cava endothelium" 0 0 0 0 0 1 http://identifiers.org/hgnc/1630 "CD151" 0 0 0 0 0 0 MONDO:0000363 "gummatous syphilis" 1 1 0 0 0 0 @@ -27405,19 +27431,19 @@ http://identifiers.org/hgnc/7573 "MYH3" 0 0 0 0 0 0 CL:0000811 "CD8-positive, alpha-beta thymocyte" 1 0 0 0 0 0 CL:0000150 "glandular epithelial cell" 1 2 0 0 0 0 MONDO:0010266 "intellectual disability, X-linked 58" 1 3 0 0 0 1 -MONDO:0017775 "melioidosis" 1 17 0 0 0 1 +MONDO:0017775 "melioidosis" 1 15 0 0 0 1 MONDO:0022786 "cleft palate colobomata radial synostosis deafness" 0 1 0 0 0 0 http://identifiers.org/hgnc/7576 "MYH6" 0 0 0 0 0 0 MONDO:0000585 "obsolete Good syndrome" 0 0 0 0 0 0 http://identifiers.org/hgnc/7577 "MYH7" 0 0 0 0 0 0 MONDO:0006015 "Waterhouse-Friderichsen syndrome" 1 13 0 0 0 0 -MONDO:0002420 "tic disorder" 1 7 0 0 0 0 +MONDO:0002420 "tic disorder" 1 6 0 0 0 0 MONDO:0022652 "obsolete cardiomyopathy dilated with conduction defect type 2" 0 0 0 0 0 0 UBERON:0009870 "zone of stomach" 0 0 0 0 0 1 CHEBI:39745 "dihydrogenphosphate" 1 0 0 0 0 0 -MONDO:0006561 "eyelid hypopigmentation" 1 6 0 0 0 0 +MONDO:0006561 "eyelid hypopigmentation" 1 5 0 0 0 0 GO:0045833 "negative regulation of lipid metabolic process" 1 0 0 0 0 1 -MONDO:0016011 "fetal alcohol syndrome" 1 8 0 0 0 0 +MONDO:0016011 "fetal alcohol syndrome" 1 7 0 0 0 0 FOODON:00001262 "botanical fruit food product"@en 1 0 0 0 0 0 NCIT:C37109 "Malignant Epithelial Spindle Cell" 0 0 0 0 0 0 NCBITaxon:2560319 "Avian orthoavulavirus 1" 0 1 0 0 0 0 @@ -27427,6 +27453,7 @@ MONDO:0000410 "funisitis" 1 5 0 0 0 0 MONDO:0015862 "obsolete embryonal carcinoma" 0 0 0 0 0 0 HP:0030191 "Abnormal peripheral nervous system synaptic transmission" 1 1 0 0 0 0 MONDO:0020797 "decompression sickness" 1 4 0 0 0 0 +MONDO:0008677 "obsolete widow's peak" 0 2 0 0 0 0 MONDO:0021468 "benign neoplasm of adrenal medulla" 1 3 0 0 0 1 MONDO:0005613 "mesonephric adenocarcinoma" 1 3 0 0 0 0 MONDO:0100412 "acute myeloid leukemia, monoallelic CEBPA gene mutation" 1 1 0 0 0 0 @@ -27436,11 +27463,10 @@ MONDO:0011396 "loricrin keratoderma" 1 6 0 0 0 0 MONDO:0005710 "composite lymphoma" 1 8 0 0 0 0 UBERON:0004099 "joint space of elbow" 0 0 0 0 0 1 http://identifiers.org/hgnc/13486 "USP27X" 0 0 0 0 0 0 -MONDO:0011625 "autosomal dominant nonsyndromic hearing loss 18" 1 6 0 0 0 0 +MONDO:0011625 "autosomal dominant nonsyndromic hearing loss 18" 1 5 0 0 0 0 MONDO:0020569 "intermediate DEND syndrome" 1 2 0 0 0 0 HsapDv:0000080 "immature stage" 1 0 0 0 0 0 MONDO:0018325 "juvenile myasthenia gravis" 1 2 0 0 0 1 -MONDO:0044978 "disease of cell nucleus" 0 0 0 0 0 1 http://identifiers.org/hgnc/9802 "RAC2" 0 0 0 0 0 0 MONDO:0000681 "tactile agnosia" 1 1 0 0 0 1 UBERON:0016405 "pulmonary capillary" 0 0 0 0 0 1 @@ -27450,7 +27476,7 @@ MONDO:0016181 "obsolete solid tumor associated with an acquired peripheral neuro http://identifiers.org/hgnc/8574 "PAFAH1B1" 0 0 0 0 0 0 MONDO:0018771 "congenital anomaly of ventricular septum" 1 1 0 0 0 1 MONDO:0018546 "serotonin syndrome" 1 6 0 0 0 0 -MONDO:0002155 "cholecystitis" 1 10 0 0 0 1 +MONDO:0002155 "cholecystitis" 1 8 0 0 0 1 CL:0000570 "parafollicular cell" 1 2 0 0 0 0 GO:0030193 "regulation of blood coagulation" 1 0 0 0 0 1 http://identifiers.org/hgnc/29450 "GLIS2" 0 0 0 0 0 0 @@ -27458,20 +27484,20 @@ UBERON:0010304 "non-keratinized stratified squamous epithelium" 0 0 0 0 0 0 GO:0097708 "intracellular vesicle" 1 0 0 0 0 1 GO:0043255 "regulation of carbohydrate biosynthetic process" 1 0 0 0 0 1 UBERON:0008987 "renal parenchyma" 0 0 0 0 0 1 -MONDO:0001355 "ocular siderosis" 1 5 0 0 0 1 +MONDO:0001355 "ocular siderosis" 1 4 0 0 0 1 MONDO:0018154 "Madelung deformity" 1 7 0 0 0 0 MONDO:0022651 "obsolete cardiomyopathy dilated with conduction defect type 1" 0 0 0 0 0 0 -MONDO:0023275 "Graham-Boyle-Troxell syndrome" 1 7 0 0 0 0 +MONDO:0023275 "Graham-Boyle-Troxell syndrome" 1 6 0 0 0 0 MONDO:0022648 "cardiomyopathy and deafness due to tRNA lysine gene mutation" 1 5 0 0 0 0 UBERON:0035050 "excretory duct" 0 0 0 0 0 0 MONDO:0020713 "pulmonary venoocclusive disease 1" 0 1 0 0 0 1 NCBITaxon:2037 "Actinomycetales" 0 5 0 0 0 0 -MONDO:0004985 "bipolar disorder" 1 18 0 0 0 0 +MONDO:0004985 "bipolar disorder" 1 17 0 0 0 0 MONDO:0022968 "dextrocardia with situs inversus" 1 1 0 0 0 0 MONDO:0015508 "genetic parenchymatous liver disease" 0 2 0 0 0 1 GO:0007147 "female meiosis II" 1 0 0 0 0 1 http://identifiers.org/hgnc/23573 "MORC2" 0 0 0 0 0 0 -MONDO:0019339 "47,XYY syndrome" 1 7 0 0 0 0 +MONDO:0019339 "47,XYY syndrome" 1 6 0 0 0 0 NCBITaxon:227984 "SARS coronavirus Tor2" 0 1 0 0 0 0 MONDO:0033311 "Joubert syndrome 33" 0 3 0 0 0 0 MONDO:0021367 "leukemia, myeloid, accelerated-phase" 1 3 0 0 0 0 @@ -27485,7 +27511,7 @@ MONDO:0015285 "Carney complex" 1 11 0 0 0 0 MONDO:0019231 "inborn disorder of pentose phosphate metabolism" 0 3 0 0 0 0 MONDO:0100296 "Olmsted syndrome 1" 1 7 0 0 0 0 MONDO:0017704 "familial partial epilepsy" 1 4 0 0 0 1 -MONDO:0019888 "distal trisomy 20q" 1 3 0 0 0 0 +MONDO:0019888 "distal trisomy 20q" 1 2 0 0 0 0 MONDO:0012130 "myofibrillar myopathy 2" 1 7 0 0 0 1 CL:1001608 "foreskin fibroblast" 1 1 0 0 0 1 MONDO:0014841 "trichothiodystrophy 6, nonphotosensitive" 1 2 0 0 0 1 @@ -27494,7 +27520,7 @@ MONDO:0001442 "dysthymic disorder" 1 7 0 0 0 0 CL:0002224 "lens epithelial cell" 1 1 0 0 0 1 MONDO:0018591 "ITM2B amyloidosis" 0 8 0 0 0 0 http://identifiers.org/hgnc/25230 "AHDC1" 0 0 0 0 0 0 -MONDO:0004884 "eye degenerative disorder" 1 10 0 0 0 1 +MONDO:0004884 "eye degenerative disorder" 1 9 0 0 0 1 MONDO:0019113 "benign paroxysmal torticollis of infancy" 1 4 0 0 0 0 MONDO:0013277 "developmental and epileptic encephalopathy, 5" 1 4 0 0 0 1 MONDO:0011626 "acromegaloid features, overgrowth, cleft palate, and hernia" 0 4 0 0 0 0 @@ -27527,7 +27553,7 @@ HP:0001371 "Flexion contracture" 1 11 0 0 0 0 UBERON:0034709 "hindbrain marginal layer" 0 0 0 0 0 1 http://identifiers.org/hgnc/2745 "DDX3X" 0 0 0 0 0 0 MONDO:0001987 "senile degeneration of brain" 0 4 0 0 0 0 -MONDO:0007721 "hiatus hernia" 1 7 0 0 0 0 +MONDO:0007721 "hiatus hernia" 1 6 0 0 0 0 MONDO:0043455 "humoral hypercalcemia of malignancy" 1 4 0 0 0 0 UBERON:0006003 "integumentary adnexa" 0 0 0 0 0 0 MONDO:0006163 "colorectal serrated adenocarcinoma" 1 4 0 0 0 0 @@ -27627,8 +27653,8 @@ MONDO:0020690 "adult glioblastoma" 0 1 0 0 0 1 CL:1000497 "kidney cell" 0 1 0 0 0 1 GO:0032838 "plasma membrane bounded cell projection cytoplasm" 1 0 0 0 0 1 MONDO:0008154 "osteomas of mandible" 0 3 0 0 0 0 -MONDO:0009688 "myasthenia gravis" 1 16 0 0 0 0 -MONDO:0009144 "Ebstein anomaly" 1 11 0 0 0 0 +MONDO:0009688 "myasthenia gravis" 1 15 0 0 0 0 +MONDO:0009144 "Ebstein anomaly" 1 10 0 0 0 0 PATO:0001411 "structured" 1 0 0 0 0 0 MONDO:0001949 "acute thyroiditis" 1 5 0 0 0 1 MONDO:0000903 "myoclonus-dystonia syndrome" 1 9 0 0 0 0 @@ -27646,7 +27672,7 @@ http://identifiers.org/hgnc/2195 "COL18A1" 0 0 0 0 0 0 GO:0008228 "opsonization" 1 0 0 0 0 0 MONDO:0024379 "circadian rhythm sleep disorder, irregular sleep wake type" 1 4 0 0 0 0 UBERON:0036291 "myocardium of anterior wall of right ventricle" 0 0 0 0 0 1 -MONDO:0004778 "epididymo-orchitis" 1 7 0 0 0 1 +MONDO:0004778 "epididymo-orchitis" 1 6 0 0 0 1 GO:1903061 "positive regulation of protein lipidation" 1 0 0 0 0 1 UBERON:0004212 "glomerular capillary" 0 0 0 0 0 1 MONDO:0012922 "pyloric stenosis, infantile hypertrophic, 5" 0 3 0 0 0 0 @@ -27673,7 +27699,7 @@ GO:0002894 "positive regulation of type II hypersensitivity" 1 0 0 0 0 1 UBERON:0010948 "cleidooccipital muscle" 0 0 0 0 0 1 CL:0000835 "myeloblast" 1 2 0 0 0 1 MONDO:0000725 "obsolete Simpson-Golabi-Behmel syndrome" 0 0 0 0 0 0 -MONDO:0005172 "skeletal system disorder" 1 3 0 0 0 1 +MONDO:0005172 "skeletal system disorder" 1 4 0 0 0 1 MONDO:0009036 "cardiocranial syndrome, Pfeiffer type" 1 7 0 0 0 0 http://identifiers.org/hgnc/2027 "CLCNKB" 0 0 0 0 0 0 UBERON:0004795 "pancreas secretion" 0 0 0 0 0 1 @@ -27687,7 +27713,7 @@ GO:0022832 "voltage-gated channel activity" 1 0 0 0 0 0 MONDO:0002387 "liver angiosarcoma" 1 8 0 0 0 1 GO:0001508 "action potential" 1 0 0 0 0 0 MONDO:0003840 "epicardium lipoma" 1 3 0 0 0 1 -MONDO:0004431 "hemarthrosis" 1 9 0 0 0 0 +MONDO:0004431 "hemarthrosis" 1 8 0 0 0 0 MONDO:0032828 "spastic tetraplegia and axial hypotonia, progressive" 0 1 0 0 0 0 MONDO:0008716 "acrogeria" 1 9 0 0 0 0 MONDO:0014882 "hereditary spastic paraplegia 77" 1 5 0 0 0 1 @@ -27701,7 +27727,7 @@ CL:0002594 "smooth muscle cell of the umbilical artery" 1 0 0 0 0 1 MONDO:0011565 "metabolic syndrome X" 0 11 0 0 0 0 UBERON:0004114 "tympanic cavity" 0 0 0 0 0 1 MONDO:0015397 "oculo-auriculo-vertebral spectrum" 0 13 0 0 0 0 -MONDO:0008854 "Bardet-Biedl syndrome 1" 1 22 0 0 0 1 +MONDO:0008854 "Bardet-Biedl syndrome 1" 1 21 0 0 0 1 GO:0043901 "obsolete negative regulation of multi-organism process" 1 0 0 0 0 0 MONDO:0019430 "X-linked intellectual disability-ataxia-apraxia syndrome" 1 3 0 0 0 0 http://identifiers.org/hgnc/14881 "ZEB2" 0 0 0 0 0 0 @@ -27738,7 +27764,7 @@ CHEBI:60643 "NMDA receptor antagonist" 1 0 0 0 0 0 MONDO:0001314 "chondrocalcinosis" 1 11 0 0 0 0 MONDO:0017824 "familial isolated pituitary adenoma" 0 8 0 0 0 1 GO:0070201 "regulation of establishment of protein localization" 1 0 0 0 0 1 -MONDO:0022018 "Borrone di Rocco Crovato syndrome" 0 3 0 0 0 0 +MONDO:0022018 "Borrone di Rocco Crovato syndrome" 0 4 0 0 0 0 MONDO:0014037 "spermatogenic failure 11" 1 3 0 0 0 1 FOODON:03460111 "food treatment process"@en 1 1 0 0 0 0 MONDO:0007900 "nonsyndromic congenital nail disorder 3" 1 7 0 0 0 1 @@ -27751,7 +27777,7 @@ MONDO:0029140 "glycosylphosphatidylinositol biosynthesis defect 18" 0 1 0 0 0 0 UBERON:8410019 "jejuno-ileal junction" 0 0 0 0 0 1 CL:0002518 "kidney epithelial cell" 1 1 0 0 0 1 MONDO:0032653 "cardiac-urogenital syndrome" 0 1 0 0 0 0 -MONDO:0004680 "primary thrombocytopenia" 0 8 0 0 0 0 +MONDO:0004680 "primary thrombocytopenia" 0 6 0 0 0 0 MONDO:0015852 "excess breast volume or number" 0 1 0 0 0 0 HP:0000271 "Abnormality of the face" 1 7 0 0 0 0 MONDO:0041536 "Far-East scarlet-like fever" 1 2 0 0 0 0 @@ -27767,7 +27793,7 @@ MONDO:0044216 "obsolete artichoke, modification of taste by" 0 1 0 0 0 0 MONDO:0002211 "B cell deficiency" 1 3 0 0 0 0 MONDO:0006440 "obsolete systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease" 0 0 0 0 0 0 MONDO:0010286 "syndromic X-linked intellectual disability Siderius type" 0 7 0 0 0 0 -MONDO:0008170 "ovarian cancer" 1 12 0 0 0 1 +MONDO:0008170 "ovarian cancer" 1 11 0 0 0 1 MONDO:0004450 "carotid artery occlusion" 1 4 0 0 0 1 http://identifiers.org/hgnc/8847 "PER3" 0 0 0 0 0 0 GO:0007565 "female pregnancy" 1 0 0 0 0 0 @@ -27807,12 +27833,11 @@ MONDO:0013005 "EAST syndrome" 1 7 0 0 0 0 MONDO:0018160 "hereditary retinoblastoma" 1 6 0 0 0 1 MONDO:0018558 "obsolete syndrome with woolly hair" 0 1 0 0 0 0 MONDO:0008489 "sternum, premature obliteration of sutures of" 0 1 0 0 0 0 -MONDO:0016574 "hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome" 1 5 0 0 0 0 +MONDO:0016574 "hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome" 1 6 0 0 0 0 HP:0003119 "Abnormal circulating lipid concentration" 1 4 0 0 0 0 GO:0007423 "sensory organ development" 1 0 0 0 0 0 UBERON:0001472 "vaginal venous plexus" 0 0 0 0 0 1 MONDO:0014671 "neuropathy, hereditary motor and sensory, type 6B" 1 4 0 0 0 1 -MONDO:0022794 "chromosome 8 deletion" 1 1 0 0 0 0 CHR:9606-chr12q15-q21.1 "12q15-q21.1 (Human)" 0 0 0 0 0 0 ENVO:01001620 "mass of ice and snow"@en 1 0 0 0 0 1 MONDO:0002495 "colon signet ring cell adenocarcinoma" 1 3 0 0 0 1 @@ -27821,7 +27846,7 @@ http://identifiers.org/hgnc/10933 "SLC17A5" 0 0 0 0 0 0 MONDO:0018388 "obsolete rare male infertility due to testicular endocrine disorder" 0 2 0 0 0 0 MONDO:0032742 "encephalopathy, acute, infection-induced, susceptibility to, 9" 0 1 0 0 0 0 UBERON:0002073 "hair follicle" 0 0 0 0 0 0 -MONDO:0002345 "cervicitis" 1 7 0 0 0 0 +MONDO:0002345 "cervicitis" 1 6 0 0 0 0 ENVO:01001040 "saline environment"@en 1 0 0 0 0 1 MONDO:0011929 "chromosome 1p36 deletion syndrome" 1 10 0 0 0 1 MONDO:0023180 "fragile X syndrome type 3" 0 1 0 0 0 0 @@ -27856,7 +27881,6 @@ CL:0002073 "transitional myocyte" 1 1 0 0 0 0 PATO:0002300 "increased quality" 1 0 0 0 0 1 MONDO:0018295 "obsolete congenital disorder of glycosylation with deafness as a major feature" 0 1 0 0 0 0 MONDO:0011509 "low density lipoprotein cholesterol, mild elevation of" 0 1 0 0 0 0 -MONDO:0044965 "abdominal and pelvic region disorder" 1 2 0 0 0 1 MONDO:0008026 "autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures" 0 6 0 0 0 0 CHEBI:33888 "cobalt molecular entity" 0 0 0 0 0 0 HP:0012825 "Mild" 1 2 0 0 0 0 @@ -27882,7 +27906,7 @@ UBERON:0013758 "cervical os" 0 0 0 0 0 1 http://identifiers.org/hgnc/15974 "TRIM2" 0 0 0 0 0 0 MONDO:0006260 "kidney medullary carcinoma" 1 8 0 0 0 1 MONDO:0018249 "finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome" 0 3 0 0 0 0 -MONDO:0012844 "primary ciliary dyskinesia 8" 1 6 0 0 0 0 +MONDO:0012844 "primary ciliary dyskinesia 8" 1 5 0 0 0 0 MONDO:0003809 "malignant mediastinum hemangiopericytoma" 1 3 0 0 0 1 MONDO:0011952 "amyotrophic lateral sclerosis type 7" 0 6 0 0 0 0 MONDO:0010507 "Xq25 microduplication syndrome" 0 3 0 0 0 1 @@ -27896,7 +27920,7 @@ MONDO:0002702 "ovarian cystadenocarcinoma" 1 5 0 0 0 1 http://identifiers.org/hgnc/1358 "C9" 0 0 0 0 0 0 http://identifiers.org/hgnc/11138 "SNCA" 0 0 0 0 0 0 MONDO:0013321 "forsythe-wakeling syndrome" 0 2 0 0 0 0 -MONDO:0012020 "chromosome 22q11.2 microduplication syndrome" 1 9 0 0 0 1 +MONDO:0012020 "chromosome 22q11.2 microduplication syndrome" 1 8 0 0 0 1 ECTO:9001982 "exposure to anti-inflammatory agent" 1 0 0 0 0 1 UBERON:0001365 "sacro-iliac joint" 0 0 0 0 0 1 CHEBI:25248 "methyl ester" 1 0 0 0 0 0 @@ -27909,6 +27933,7 @@ CL:0000817 "precursor B cell" 1 2 0 0 0 0 GO:0030343 "vitamin D3 25-hydroxylase activity" 1 0 0 0 0 0 CL:0000948 "IgE memory B cell" 1 0 0 0 0 1 UBERON:0014613 "cervical spinal cord gray matter" 0 0 0 0 0 1 +MONDO:0015153 "obsolete autosomal monosomy" 0 10 0 0 0 0 MONDO:0004965 "acinar cell carcinoma" 1 8 0 0 0 1 MONDO:0004010 "infiltrating renal pelvis/ureter urothelial carcinoma" 0 2 0 0 0 1 http://identifiers.org/hgnc/7096 "MID2" 0 0 0 0 0 0 @@ -27920,7 +27945,7 @@ MONDO:0018394 "male infertility with teratozoospermia due to single gene mutatio MONDO:0007667 "subependymoma" 1 11 0 0 0 0 UBERON:0003574 "elbow connective tissue" 0 0 0 0 0 1 GO:1901403 "positive regulation of tetrapyrrole metabolic process" 1 0 0 0 0 1 -MONDO:0002708 "retinitis" 1 6 0 0 0 1 +MONDO:0002708 "retinitis" 1 5 0 0 0 1 GO:0002652 "regulation of tolerance induction dependent upon immune response" 1 0 0 0 0 1 NCBITaxon:72273 "Thiotrichales" 0 2 0 0 0 0 MONDO:0005763 "Flaviviridae infectious disease" 1 3 0 0 0 1 @@ -27940,7 +27965,7 @@ MONDO:0600024 "familial idiopathic inflammatory myopathy" 1 2 0 0 0 0 UBERON:0005075 "forebrain-midbrain boundary" 0 0 0 0 0 1 UBERON:0004755 "skeletal tissue" 0 0 0 0 0 0 UBERON:0007475 "matrix-based tissue" 0 0 0 0 0 1 -MONDO:0013411 "cataract 16 multiple types" 1 7 0 0 0 1 +MONDO:0013411 "cataract 16 multiple types" 1 6 0 0 0 1 UBERON:0007689 "thyroid diverticulum" 0 0 0 0 0 0 MONDO:0100070 "neuroendocrine disorder" 1 0 0 0 0 1 CL:0000097 "mast cell" 1 3 0 0 0 0 @@ -27952,7 +27977,7 @@ UBERON:8410021 "inguinal region skin" 0 0 0 0 0 1 MONDO:0011693 "glaucoma, normal tension, susceptibility to" 0 1 0 0 0 0 SO:0000301 "vertebrate_immune_system_gene_recombination_feature" 1 0 0 0 0 0 MONDO:0020364 "posterior polymorphous corneal dystrophy" 1 8 0 0 0 0 -MONDO:0006851 "meconium aspiration syndrome" 1 13 0 0 0 0 +MONDO:0006851 "meconium aspiration syndrome" 1 10 0 0 0 0 MONDO:0011564 "cone-rod dystrophy 8" 1 4 0 0 0 0 MONDO:0019176 "trichorhinophalangeal syndrome type I or III" 1 5 0 0 0 1 MONDO:0009152 "ectopia lentis 2, isolated, autosomal recessive" 1 5 0 0 0 0 @@ -27963,6 +27988,7 @@ MONDO:0006986 "substernal goiter" 1 5 0 0 0 0 CHEBI:29340 "hydridonitrate(2-)" 1 0 0 0 0 0 MONDO:0700066 "myopathy caused by variation in FKRP" 1 0 0 0 0 1 NCBITaxon:34630 "Rhipicephalus " 0 2 0 0 0 0 +MONDO:0008616 "obsolete twinning due to superfetation" 0 2 0 0 0 0 http://identifiers.org/hgnc/17800 "FARSB" 0 0 0 0 0 0 http://identifiers.org/hgnc/3005 "DPM1" 0 0 0 0 0 0 GO:0001956 "positive regulation of neurotransmitter secretion" 1 0 0 0 0 1 @@ -27981,7 +28007,7 @@ MONDO:0014532 "autosomal dominant mitochondrial myopathy with exercise intoleran MONDO:0013710 "colorectal cancer, hereditary nonpolyposis, type 5" 1 5 0 0 0 1 GO:0001819 "positive regulation of cytokine production" 1 0 0 0 0 1 CHEBI:15734 "primary alcohol" 1 0 0 0 0 0 -MONDO:0020316 "acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)" 1 3 0 0 0 0 +MONDO:0020316 "acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)" 1 2 0 0 0 0 MONDO:0021126 "syndromic or isolated" 1 0 0 0 0 0 MONDO:0001862 "malignant visceral pleura tumor" 0 3 0 0 0 0 MONDO:0002107 "unilateral hyperactive labyrinth" 0 3 0 0 0 0 @@ -27997,7 +28023,7 @@ MONDO:0014549 "lethal congenital contracture syndrome 6" 1 2 0 0 0 1 http://identifiers.org/hgnc/4367 "GM2A" 0 0 0 0 0 0 GO:0034249 "negative regulation of cellular amide metabolic process" 1 0 0 0 0 1 http://identifiers.org/hgnc/30718 "DNAJB13" 0 0 0 0 0 0 -MONDO:0012000 "specific phobia" 1 8 0 0 0 0 +MONDO:0012000 "specific phobia" 1 7 0 0 0 0 MONDO:0021281 "cavernous hemangioma of retina" 1 3 0 0 0 1 UBERON:0013136 "vein of lip" 0 0 0 0 0 1 MONDO:0011951 "amyotrophic lateral sclerosis type 6" 1 6 0 0 0 1 @@ -28022,7 +28048,7 @@ MONDO:0020764 "Brown-Pearce carcinoma" 0 3 0 0 0 0 MONDO:0016496 "pharyngeal-cervical-brachial variant of Guillain-Barre syndrome" 0 3 0 0 0 0 CL:0000807 "DN3 thymocyte" 1 0 0 0 0 0 MONDO:0044336 "colorectal signet ring cell carcinoma" 1 2 0 0 0 1 -MONDO:0016567 "locked-in syndrome" 1 8 0 0 0 0 +MONDO:0016567 "locked-in syndrome" 1 7 0 0 0 0 NCBITaxon:436486 "Dinosauria" 0 1 0 0 0 0 NCBITaxon:6682 "Eucarida" 0 1 0 0 0 0 MONDO:0020694 "salivary gland epithelial myoepithelial carcinoma" 1 1 0 0 0 1 @@ -28032,7 +28058,7 @@ MONDO:0014656 "progressive external ophthalmoplegia with mitochondrial DNA delet CHEBI:63248 "oxidising agent" 1 0 0 0 0 0 GO:0043470 "regulation of carbohydrate catabolic process" 1 0 0 0 0 1 MONDO:0000999 "obsolete pneumoconiosis" 0 0 0 0 0 0 -MONDO:0005406 "gestational diabetes" 1 7 0 0 0 1 +MONDO:0005406 "gestational diabetes" 1 6 0 0 0 1 GO:0030431 "sleep" 1 0 0 0 0 0 MONDO:0006430 "splenic mantle cell lymphoma" 1 3 0 0 0 0 UBERON:0003470 "artery of upper lip" 0 0 0 0 0 1 @@ -28048,11 +28074,11 @@ UBERON:0001323 "tibial nerve" 0 0 0 0 0 0 MONDO:0017493 "fibular hemimelia, bilateral" 0 2 0 0 0 0 MONDO:0022841 "congenital hypotrichosis milia" 0 1 0 0 0 0 GO:0071417 "cellular response to organonitrogen compound" 1 0 0 0 0 0 -MONDO:0005850 "milker's nodule" 1 8 0 0 0 0 +MONDO:0005850 "milker's nodule" 1 7 0 0 0 0 http://identifiers.org/hgnc/12811 "XK" 0 0 0 0 0 0 MONDO:0008129 "ophthalmoplegia, familial total, with iris transillumination" 0 3 0 0 0 0 MONDO:0011931 "ovarian cancer, susceptibility to, 1" 0 1 0 0 0 0 -MONDO:0019123 "continuous spikes and waves during sleep" 1 6 0 0 0 0 +MONDO:0019123 "continuous spikes and waves during sleep" 1 5 0 0 0 0 NCBITaxon:262 "Francisella" 0 3 0 0 0 0 MONDO:0001549 "hemolytic-uremic syndrome" 1 17 0 0 0 0 MONDO:0019942 "distal arthrogryposis" 1 7 0 0 0 0 @@ -28099,14 +28125,14 @@ UBERON:0004064 "neural tube basal plate" 0 0 0 0 0 0 UBERON:0012081 "patella pre-cartilage condensation" 0 0 0 0 0 1 GO:0051353 "positive regulation of oxidoreductase activity" 1 0 0 0 0 1 MONDO:0003239 "obsolete Camurati-Engelmann disease" 0 0 0 0 0 0 -MONDO:0006788 "hydrophthalmos" 1 7 0 0 0 0 -MONDO:0013847 "chromosome 16p11.2 duplication syndrome" 1 7 0 0 0 1 +MONDO:0006788 "hydrophthalmos" 1 6 0 0 0 0 +MONDO:0013847 "chromosome 16p11.2 duplication syndrome" 1 6 0 0 0 1 MONDO:0004079 "lung mucous gland adenoma" 1 3 0 0 0 1 MONDO:0002791 "large cell medulloblastoma" 1 5 0 0 0 0 UBERON:0010064 "open anatomical space" 0 0 0 0 0 1 MONDO:0004695 "liver lymphoma" 1 3 0 0 0 1 UBERON:8410018 "right colic vein" 0 0 0 0 0 1 -MONDO:0003454 "conjunctival cancer" 1 6 0 0 0 1 +MONDO:0003454 "conjunctival cancer" 1 5 0 0 0 1 GO:0007267 "cell-cell signaling" 1 0 0 0 0 0 MONDO:0018672 "IgG4-related aortitis" 0 2 0 0 0 0 MONDO:0019044 "tumor of hematopoietic and lymphoid tissues" 0 2 0 0 0 0 @@ -28145,7 +28171,7 @@ http://identifiers.org/hgnc/9752 "QDPR" 0 0 0 0 0 0 UBERON:0005319 "mesonephric collecting duct" 0 0 0 0 0 1 MONDO:0011338 "Omenn syndrome" 1 9 0 0 0 0 CL:0000125 "glial cell" 1 3 0 0 0 0 -MONDO:0009047 "cryptorchidism" 1 10 0 0 0 0 +MONDO:0009047 "cryptorchidism" 1 9 0 0 0 0 HP:0025015 "Abnormal vascular morphology" 0 0 0 0 0 0 CL:1000495 "small intestine goblet cell" 1 1 0 0 0 1 MONDO:0045054 "cancer-related condition" 1 2 0 0 0 0 @@ -28156,31 +28182,31 @@ MONDO:0008010 "antigen defined by monoclonal antibody Aj9" 0 1 0 0 0 0 GO:0055085 "transmembrane transport" 1 0 0 0 0 0 MONDO:0015210 "syndromic gastroduodenal malformation" 1 2 0 0 0 1 MONDO:0020287 "pulmonary artery or pulmonary branch anomaly" 0 1 0 0 0 0 -MONDO:0007606 "fibrodysplasia ossificans progressiva" 1 11 0 0 0 0 +MONDO:0007606 "fibrodysplasia ossificans progressiva" 1 9 0 0 0 0 MONDO:0004288 "scirrhous breast carcinoma" 1 5 0 0 0 0 MONDO:0019861 "thyroid hypoplasia" 1 5 0 0 0 0 MONDO:0009471 "intrinsic factor and r binder, combined congenital deficiency of" 0 4 0 0 0 0 http://identifiers.org/hgnc/29022 "SPECC1L" 0 0 0 0 0 0 MONDO:0017361 "congenital rubella syndrome" 1 10 0 0 0 1 MONDO:0013954 "mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency" 1 4 0 0 0 0 -MONDO:0013454 "Leber congenital amaurosis 11" 1 7 0 0 0 1 +MONDO:0013454 "Leber congenital amaurosis 11" 1 6 0 0 0 1 UBERON:0007307 "pronephric glomerular basement membrane" 0 0 0 0 0 1 MONDO:0003524 "gastric gastrin-producing neuroendocrine tumor" 1 3 0 0 0 1 UBERON:0004573 "systemic artery" 0 0 0 0 0 1 -MONDO:0004929 "constant exophthalmos" 0 5 0 0 0 0 +MONDO:0004929 "constant exophthalmos" 0 4 0 0 0 0 MONDO:0019613 "non-functioning pituitary adenoma" 1 6 0 0 0 1 MONDO:0100112 "acyl-CoA binding domain containing protein 5 deficiency" 1 0 0 0 0 0 HP:0012503 "Abnormality of the pituitary gland" 1 3 0 0 0 0 NCBITaxon:27479 "Reduviidae" 0 1 0 0 0 0 UBERON:0005956 "outflow part of left ventricle" 0 0 0 0 0 1 -MONDO:0001331 "conjunctival deposit" 0 5 0 0 0 0 +MONDO:0001331 "conjunctival deposit" 0 4 0 0 0 0 MONDO:0008909 "congenital disorder of glycosylation, type i/IIx" 0 4 0 0 0 0 MONDO:0002169 "rectum adenocarcinoma" 1 6 0 0 0 1 UBERON:0006311 "chamber of eyeball" 0 0 0 0 0 1 MONDO:0000885 "obsolete cloacal exstrophy" 0 0 0 0 0 0 FOODON:00001143 "fungus food product"@en 1 0 0 0 0 1 GO:0009566 "fertilization" 1 0 0 0 0 0 -MONDO:0000949 "conjunctival degeneration" 0 5 0 0 0 0 +MONDO:0000949 "conjunctival degeneration" 0 4 0 0 0 0 MONDO:0007202 "blepharoptosis-myopia-ectopia lentis syndrome" 1 7 0 0 0 0 http://identifiers.org/hgnc/3378 "EPB41L1" 0 0 0 0 0 0 MONDO:0001413 "ulceroglandular tularemia" 1 5 0 0 0 0 @@ -28194,7 +28220,7 @@ UBERON:0002411 "clitoris" 0 0 0 0 0 0 MONDO:0019711 "obsolete dysostosis with predominant vertebral and costal involvement" 0 1 0 0 0 0 MONDO:0060765 "fibroepithelial polyp" 1 1 0 0 0 0 UBERON:0010165 "collection of hair on face" 0 0 0 0 0 1 -MONDO:0004662 "heterophyiasis" 1 6 0 0 0 1 +MONDO:0004662 "heterophyiasis" 1 5 0 0 0 1 MONDO:0014007 "Aicardi-Goutieres syndrome 6" 1 3 0 0 0 1 GO:0016050 "vesicle organization" 1 0 0 0 0 0 MONDO:0005583 "non-human animal disease" 1 3 0 0 0 0 @@ -28214,7 +28240,7 @@ CHEBI:25555 "nitrogen atom" 0 0 0 0 0 0 MONDO:0032939 "intellectual developmental disorder, autosomal dominant 63, with macrocephaly" 0 1 0 0 0 0 UBERON:0009911 "lobule" 0 0 0 0 0 0 MF:0000074 "bodily quality"@en 1 0 0 0 0 0 -MONDO:0005698 "cervical incompetence" 1 8 0 0 0 0 +MONDO:0005698 "cervical incompetence" 1 7 0 0 0 0 MONDO:0014851 "hypercalcemia, infantile, 2" 1 5 0 0 0 1 GO:0048819 "regulation of hair follicle maturation" 1 0 0 0 0 1 GO:0031343 "positive regulation of cell killing" 1 0 0 0 0 1 @@ -28223,8 +28249,8 @@ GO:0033239 "negative regulation of cellular amine metabolic process" 1 0 0 0 0 1 MONDO:0004685 "Waldeyer's ring cancer" 1 5 0 0 0 1 MONDO:0010976 "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive" 1 4 0 0 0 0 UBERON:0015059 "orbitosphenoid endochondral element" 0 0 0 0 0 1 -MONDO:0001855 "rubeosis iridis" 0 5 0 0 0 0 -MONDO:0010521 "amelogenesis imperfecta type 1E" 1 5 0 0 0 1 +MONDO:0001855 "rubeosis iridis" 0 4 0 0 0 0 +MONDO:0010521 "amelogenesis imperfecta type 1E" 1 4 0 0 0 1 http://identifiers.org/hgnc/1810 "CDY2A" 0 0 0 0 0 0 GO:0006351 "transcription, DNA-templated" 1 0 0 0 0 0 MONDO:0005394 "brain infarction" 1 6 0 0 0 0 @@ -28281,7 +28307,7 @@ MONDO:0018018 "wild type ATTR amyloidosis" 0 6 0 0 0 0 MONDO:0011751 "COPD, severe early onset" 0 1 0 0 0 0 GO:0044422 "obsolete organelle part" 1 0 0 0 0 0 ECTO:7000068 "exposure to particulate matter" 1 0 0 0 0 0 -MONDO:0001357 "hypochromic anemia" 1 6 0 0 0 1 +MONDO:0001357 "hypochromic anemia" 1 5 0 0 0 1 MONDO:0008500 "striae distensae, familial" 0 3 0 0 0 0 CHEBI:33340 "zinc group element atom" 0 0 0 0 0 0 MONDO:0000309 "aniseikonia" 1 6 0 0 0 0 @@ -28303,11 +28329,11 @@ MONDO:0010591 "fingerprint body myopathy" 1 6 0 0 0 0 http://identifiers.org/hgnc/11277 "SPTLC1" 0 0 0 0 0 0 MONDO:0013303 "autoimmune disease, susceptibility to, 6" 1 1 0 0 0 1 UBERON:0008858 "pyloric canal" 0 0 0 0 0 0 -MONDO:0004813 "tuberculous pneumothorax" 1 10 0 0 0 0 +MONDO:0004813 "tuberculous pneumothorax" 1 9 0 0 0 0 HP:0000491 "Keratitis" 1 3 0 0 0 0 MONDO:0016450 "autoimmune hemolytic anemia, cold type" 1 3 0 0 0 0 MONDO:0015534 "juvenile xanthogranuloma" 1 8 0 0 0 0 -MONDO:0019365 "scrub typhus" 1 9 0 0 0 1 +MONDO:0019365 "scrub typhus" 1 8 0 0 0 1 MONDO:0020452 "inferior vena cava interruption" 0 4 0 0 0 0 MONDO:0009514 "Laurence-Moon syndrome" 1 12 0 0 0 0 UBERON:0004248 "pedal digit bone" 0 0 0 0 0 1 @@ -28327,7 +28353,7 @@ http://identifiers.org/hgnc/16075 "RAB33B" 0 0 0 0 0 0 CHR:9606-chr9p13 "9p13 (Human)" 0 0 0 0 0 0 http://identifiers.org/hgnc/17063 "RAB3GAP1" 0 0 0 0 0 0 MONDO:0043291 "Rokitansky-Aschoff sinuses of the gallbladder" 1 4 0 0 0 0 -MONDO:0001713 "inherited aplastic anemia" 1 11 0 0 0 1 +MONDO:0001713 "inherited aplastic anemia" 1 10 0 0 0 1 MONDO:0007884 "leg ulcers, familial, of juvenile onset" 0 3 0 0 0 0 http://identifiers.org/hgnc/2876 "DIAPH1" 0 0 0 0 0 0 http://identifiers.org/hgnc/2877 "DIAPH2" 0 0 0 0 0 0 @@ -28344,7 +28370,7 @@ MONDO:0004544 "chordoid meningioma" 1 5 0 0 0 0 MONDO:0010584 "dyskeratosis congenita, X-linked" 1 8 0 0 0 1 CL:0000216 "Sertoli cell" 1 4 0 0 0 1 MONDO:0033308 "Joubert syndrome 30" 0 3 0 0 0 0 -MONDO:0009509 "Landau-Kleffner syndrome" 1 16 0 0 0 0 +MONDO:0009509 "Landau-Kleffner syndrome" 1 15 0 0 0 0 MONDO:0020600 "acute pharyngitis" 1 2 0 0 0 1 CHR:9606-chr18 "chromosome 18 (Human)" 0 0 0 0 0 0 GO:0051119 "sugar transmembrane transporter activity" 1 0 0 0 0 0 @@ -28356,16 +28382,16 @@ MONDO:0020606 "sex-linked disease" 0 2 0 0 0 1 MONDO:0016766 "obsolete rare lichen planus" 1 2 0 0 0 0 MONDO:0018216 "Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome" 0 9 0 0 0 1 MONDO:0018800 "Kallmann syndrome" 1 29 0 0 0 0 -MONDO:0004620 "Hodgkin's lymphoma, lymphocytic depletion" 1 8 0 0 0 0 +MONDO:0004620 "Hodgkin's lymphoma, lymphocytic depletion" 1 7 0 0 0 0 http://identifiers.org/hgnc/11278 "SPTLC2" 0 0 0 0 0 0 -MONDO:0009319 "pantothenate kinase-associated neurodegeneration" 1 10 0 0 0 0 +MONDO:0009319 "pantothenate kinase-associated neurodegeneration" 1 9 0 0 0 0 MONDO:0030031 "lissencephaly 10" 0 1 0 0 0 0 FOODON:03412972 "food additive"@en 0 0 0 0 0 0 MONDO:0015411 "facial cleft" 1 4 0 0 0 0 UBERON:0003865 "distal phalanx of manus" 0 0 0 0 0 1 MONDO:0019745 "cystinuria type A" 0 4 0 0 0 0 MONDO:0019334 "autosomal recessive hyperinsulinism due to Kir6.2 deficiency" 0 4 0 0 0 0 -MONDO:0013457 "Leber congenital amaurosis 15" 1 5 0 0 0 1 +MONDO:0013457 "Leber congenital amaurosis 15" 1 4 0 0 0 1 MONDO:0015965 "obsolete rare genetic refraction anomaly" 0 2 0 0 0 0 CHEBI:26819 "sulfuric ester" 1 0 0 0 0 0 MONDO:0015541 "genetic hemophagocytic lymphohistiocytosis" 1 6 0 0 0 1 @@ -28381,7 +28407,7 @@ http://identifiers.org/hgnc/3616 "FCGR2A" 0 0 0 0 0 0 MONDO:0003573 "pleomorphic carcinoma" 1 4 0 0 0 0 UBERON:0001996 "elastic cartilage tissue" 0 0 0 0 0 0 MONDO:0017426 "postaxial polydactyly of fingers" 0 4 0 0 0 0 -MONDO:0005276 "dental caries" 1 13 0 0 0 0 +MONDO:0005276 "dental caries" 1 11 0 0 0 0 MONDO:0030801 "monosomy 7 myelodysplasia and leukemia syndrome 2" 0 1 0 0 0 0 HsapDv:0000088 "human early adulthood stage" 1 0 0 0 0 0 MONDO:0015649 "micturation-induced seizures" 1 3 0 0 0 1 @@ -28398,7 +28424,7 @@ CL:0000680 "muscle precursor cell" 1 0 0 0 0 1 MONDO:0019538 "Gaisbock syndrome" 1 11 0 0 0 0 MONDO:0013264 "amyotrophic lateral sclerosis type 12" 1 4 0 0 0 1 PATO:0001396 "cellular quality" 1 0 0 0 0 0 -MONDO:0008747 "oculocutaneous albinism type 3" 1 9 0 0 0 1 +MONDO:0008747 "oculocutaneous albinism type 3" 1 10 0 0 0 1 MONDO:0014099 "nephrotic syndrome, type 8" 1 4 0 0 0 1 MONDO:0011548 "cerebral palsy, ataxic, autosomal recessive" 0 3 0 0 0 0 GO:1901569 "fatty acid derivative catabolic process" 1 0 0 0 0 0 @@ -28421,7 +28447,7 @@ UBERON:0005567 "rhombomere 1 lateral wall" 0 0 0 0 0 1 GO:0032892 "positive regulation of organic acid transport" 1 0 0 0 0 1 GO:0001649 "osteoblast differentiation" 1 0 0 0 0 0 NCBITaxon:6248 "Strongyloides stercoralis" 0 1 0 0 0 0 -MONDO:0020110 "pulmonary agenesis" 1 8 0 0 0 0 +MONDO:0020110 "pulmonary agenesis" 1 7 0 0 0 0 NCBITaxon:6947 "Prostigmata" 0 1 0 0 0 0 MONDO:0020467 "mosaic monosomy X" 0 6 0 0 0 1 MONDO:0020184 "obsolete rare eyebrow/eyelashes anomaly" 0 2 0 0 0 0 @@ -28435,7 +28461,7 @@ UBERON:0002173 "pulmonary alveolar duct" 0 0 0 0 0 0 MONDO:0020524 "primary parathyroid hyperplasia" 0 3 0 0 0 0 http://identifiers.org/hgnc/3287 "EIF4E" 0 0 0 0 0 0 HP:0004374 "Hemiplegia/hemiparesis" 1 1 0 0 0 0 -MONDO:0002290 "clitoris cancer" 1 8 0 0 0 1 +MONDO:0002290 "clitoris cancer" 1 7 0 0 0 1 MONDO:0003002 "dysgerminoma" 1 6 0 0 0 0 UBERON:0016520 "epithelium of female urethra" 0 0 0 0 0 1 UBERON:0004582 "venous system" 0 0 0 0 0 0 @@ -28446,10 +28472,10 @@ CHR:9606-chr9q "9q (Human)" 0 0 0 0 0 0 ECTO:0000922 "exposure to EC 3.5.1.4 (amidase) inhibitor" 1 0 0 0 0 1 MONDO:0015621 "obsolete rare abdominal surgical disease" 0 2 0 0 0 0 MPATH:0 "pathological entity" 1 0 0 0 0 0 -MONDO:0006676 "beriberi" 1 12 0 0 0 0 +MONDO:0006676 "beriberi" 1 10 0 0 0 0 http://identifiers.org/hgnc/20134 "GLRX5" 0 0 0 0 0 0 ENVO:01000952 "anthropisation"@en 1 0 0 0 0 1 -MONDO:0004745 "priapism" 1 9 0 0 0 0 +MONDO:0004745 "priapism" 1 8 0 0 0 0 http://identifiers.org/hgnc/23088 "SLC10A7" 0 0 0 0 0 0 HP:0002059 "Cerebral atrophy" 1 6 0 0 0 0 ENVO:01001570 "terrestrial ecoregion"@en 1 0 0 0 0 0 @@ -28464,7 +28490,7 @@ GO:0043436 "oxoacid metabolic process" 1 0 0 0 0 0 MONDO:0009037 "craniosynostosis with anomalies of the cranial base and digits" 0 3 0 0 0 0 CL:0000642 "folliculostellate cell" 1 0 0 0 0 0 http://identifiers.org/hgnc/9587 "PTDSS1" 0 0 0 0 0 0 -MONDO:0007925 "chromosome 5q deletion syndrome" 1 10 0 0 0 0 +MONDO:0007925 "chromosome 5q deletion syndrome" 1 9 0 0 0 0 UBERON:0007213 "mesenchyme derived from head neural crest" 0 0 0 0 0 1 MONDO:0010689 "Charcot-Marie-Tooth disease X-linked recessive 4" 1 6 0 0 0 0 MONDO:0021316 "malignant tumor of minor salivary gland" 1 3 0 0 0 1 @@ -28483,7 +28509,7 @@ MONDO:0022414 "allain-babin-demarquez syndrome" 0 2 0 0 0 0 MONDO:0030893 "leukoencephalopathy, progressive, infantile-onset, with or without deafness" 0 1 0 0 0 0 http://identifiers.org/hgnc/3619 "FCGR3A" 0 0 0 0 0 0 MONDO:0005079 "polyp" 1 5 0 0 0 0 -MONDO:0001831 "irregular astigmatism" 0 5 0 0 0 0 +MONDO:0001831 "irregular astigmatism" 0 4 0 0 0 0 UBERON:0016566 "pit" 0 0 0 0 0 0 http://identifiers.org/hgnc/8840 "PEPD" 0 0 0 0 0 0 MONDO:0005183 "ovarian cystadenoma" 1 6 0 0 0 1 @@ -28499,7 +28525,7 @@ MONDO:0020751 "orthostatic hypotension 2" 0 1 0 0 0 0 MONDO:0015552 "acral dystrophic epidermolysis bullosa" 1 5 0 0 0 0 GO:0007154 "cell communication" 1 0 0 0 0 0 MONDO:0008043 "myoclonus-cerebellar ataxia-deafness syndrome" 1 6 0 0 0 0 -MONDO:0011962 "endometrial cancer" 1 10 0 0 0 1 +MONDO:0011962 "endometrial cancer" 1 9 0 0 0 1 MONDO:0013371 "dilated cardiomyopathy 1U" 1 6 0 0 0 1 MONDO:0700122 "PBRM1-related BAFopathy" 1 0 0 0 0 0 GO:0007548 "sex differentiation" 1 0 0 0 0 0 @@ -28514,13 +28540,13 @@ MONDO:0002867 "pancreatic cystadenocarcinoma" 1 4 0 0 0 1 GO:1904170 "regulation of bleb assembly" 1 0 0 0 0 1 http://identifiers.org/hgnc/24475 "DMGDH" 0 0 0 0 0 0 UBERON:0003619 "aorta tunica intima" 0 0 0 0 0 1 -MONDO:0018873 "anterior cutaneous nerve entrapment syndrome" 1 3 0 0 0 0 -MONDO:0014594 "autosomal dominant nonsyndromic hearing loss 67" 1 4 0 0 0 1 +MONDO:0018873 "anterior cutaneous nerve entrapment syndrome" 1 2 0 0 0 0 +MONDO:0014594 "autosomal dominant nonsyndromic hearing loss 67" 1 3 0 0 0 1 GO:0033604 "negative regulation of catecholamine secretion" 1 0 0 0 0 1 GO:0001707 "mesoderm formation" 1 0 0 0 0 0 MONDO:0015883 "hidrotic ectodermal dysplasia, Halal type" 1 6 0 0 0 0 HP:0100639 "Erectile dysfunction" 1 0 0 0 0 0 -MONDO:0014256 "retinitis pigmentosa 67" 1 4 0 0 0 1 +MONDO:0014256 "retinitis pigmentosa 67" 1 3 0 0 0 1 GO:0007618 "mating" 1 0 0 0 0 0 GO:0050865 "regulation of cell activation" 1 0 0 0 0 1 GO:0097530 "granulocyte migration" 1 0 0 0 0 0 @@ -28530,14 +28556,14 @@ MONDO:0009630 "microphthalmia, isolated, with coloboma 4" 0 4 0 0 0 0 NCBITaxon:600669 "Nakaseomyces/Candida clade" 0 1 0 0 0 0 UBERON:0003115 "pharyngeal arch 4" 0 0 0 0 0 0 MONDO:0018433 "acute myeloid leukemia with t(6;9)(p23;q34)" 1 2 0 0 0 0 -MONDO:0015977 "agammaglobulinemia" 1 16 0 0 0 0 +MONDO:0015977 "agammaglobulinemia" 1 15 0 0 0 0 MONDO:0015215 "non-syndromic diaphragmatic or abdominal wall malformation" 1 1 0 0 0 1 MONDO:0013373 "dilated cardiomyopathy 1V" 1 5 0 0 0 1 MONDO:0019027 "otopalatodigital syndrome" 1 7 0 0 0 0 MONDO:0016404 "obsolete metabolic neurotransmission anomaly with epilepsy" 0 1 0 0 0 0 -MONDO:0008234 "multiple endocrine neoplasia type 2A" 1 14 0 0 0 0 +MONDO:0008234 "multiple endocrine neoplasia type 2A" 1 13 0 0 0 0 http://identifiers.org/hgnc/7562 "MYD88" 0 0 0 0 0 0 -MONDO:0001176 "lens disorder" 1 8 0 0 0 1 +MONDO:0001176 "lens disorder" 1 7 0 0 0 1 UBERON:0005484 "tricuspid valve leaflet" 0 0 0 0 0 1 MONDO:0002953 "skin infiltrative basal cell carcinoma" 1 4 0 0 0 0 MONDO:0011292 "dermatitis, atopic" 0 1 0 0 0 0 @@ -28600,7 +28626,7 @@ MONDO:0021154 "dermis disorder" 1 2 0 0 0 1 MONDO:0006373 "pituitary gland adenoma" 1 10 0 0 0 1 MONDO:0024296 "vascular neoplasm" 1 1 0 0 0 1 MONDO:0006121 "calcifying fibrous tumor" 1 3 0 0 0 0 -MONDO:0002069 "female breast axillary tail cancer" 1 6 0 0 0 1 +MONDO:0002069 "female breast axillary tail cancer" 1 5 0 0 0 1 MONDO:0004987 "urinary bladder neoplasm" 1 5 0 0 0 1 MONDO:0005699 "cervicofacial actinomycosis" 1 7 0 0 0 0 GO:1900004 "negative regulation of serine-type endopeptidase activity" 1 0 0 0 0 1 @@ -28610,11 +28636,11 @@ CHEBI:51061 "hormone receptor modulator" 1 0 0 0 0 0 MONDO:0011963 "Joubert syndrome 2" 1 6 0 0 0 1 MONDO:0009020 "macular corneal dystrophy" 1 13 0 0 0 0 NCBITaxon:34620 "Dermacentor andersoni" 0 1 0 0 0 0 -MONDO:0001769 "acquired tear duct stenosis" 0 4 0 0 0 0 +MONDO:0001769 "acquired tear duct stenosis" 0 3 0 0 0 0 UBERON:0002237 "true rib" 0 0 0 0 0 1 UBERON:0003117 "pharyngeal arch 6" 0 0 0 0 0 0 MONDO:0023472 "chondrodysplasia situs inversus imperforate anus polydactyly" 0 1 0 0 0 0 -MONDO:0010589 "Aarskog-Scott syndrome, X-linked" 1 10 0 0 0 0 +MONDO:0010589 "Aarskog-Scott syndrome, X-linked" 1 9 0 0 0 0 CHEBI:140310 "phenyl acetates" 1 0 0 0 0 0 MONDO:0020663 "malignant spindle cell neoplasm" 1 1 0 0 0 1 UBERON:0005124 "metanephric proximal convoluted tubule" 0 0 0 0 0 1 @@ -28628,13 +28654,13 @@ MONDO:0014227 "hypopigmentation-punctate palmoplantar keratoderma syndrome" 0 7 MONDO:0013550 "distal myopathy with posterior leg and anterior hand involvement" 1 6 0 0 0 0 CHEBI:65212 "polysaccharide derivative" 1 0 0 0 0 0 MONDO:0016599 "autosomal dominant secondary polycythemia" 1 5 0 0 0 1 -MONDO:0001334 "hypertrichosis of eyelid" 1 5 0 0 0 1 +MONDO:0001334 "hypertrichosis of eyelid" 1 4 0 0 0 1 GO:1903578 "regulation of ATP metabolic process" 1 0 0 0 0 1 -MONDO:0014075 "cataract 39 multiple types" 1 8 0 0 0 1 +MONDO:0014075 "cataract 39 multiple types" 1 7 0 0 0 1 MONDO:0009263 "gapo syndrome" 1 5 0 0 0 0 MONDO:0016439 "elastoderma" 1 5 0 0 0 0 CL:1000804 "kidney outer medulla interstitial cell" 0 1 0 0 0 1 -MONDO:0001243 "disseminated intravascular coagulation" 1 8 0 0 0 0 +MONDO:0001243 "disseminated intravascular coagulation" 1 7 0 0 0 0 MONDO:0017662 "obsolete miscellaneous movement disorder due to genetic neurodegenerative disease" 0 2 0 0 0 0 MONDO:0014780 "hyperphosphatasia with intellectual disability syndrome 6" 1 2 0 0 0 1 MONDO:0016585 "obsolete mansonelliasis" 0 0 0 0 0 0 @@ -28660,7 +28686,7 @@ GO:0051726 "regulation of cell cycle" 1 0 0 0 0 1 ECTO:0000496 "exposure to alkylating agent" 1 0 0 0 0 1 GO:2001200 "positive regulation of dendritic cell differentiation" 1 0 0 0 0 1 http://identifiers.org/hgnc/12736 "WIPF1" 0 0 0 0 0 0 -MONDO:0010020 "congenital generalized lipodystrophy type 2" 1 5 0 0 0 1 +MONDO:0010020 "congenital generalized lipodystrophy type 2" 1 4 0 0 0 1 MONDO:0016351 "anti-HLA hyperimmunization" 1 3 0 0 0 0 MONDO:0007815 "obsolete immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist" 0 0 0 0 0 0 MONDO:0014313 "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity" 0 4 0 0 0 0 @@ -28692,7 +28718,7 @@ MONDO:0005776 "gnathomiasis" 1 9 0 0 0 0 UBERON:0001295 "endometrium" 0 0 0 0 0 1 MONDO:0005545 "staphylococcus aureus infection" 1 4 0 0 0 1 MONDO:0009184 "epidermolysis bullosa with diaphragmatic hernia" 0 2 0 0 0 0 -MONDO:0013915 "hypogonadotropic hypogonadism 13 with or without anosmia" 1 4 0 0 0 1 +MONDO:0013915 "hypogonadotropic hypogonadism 13 with or without anosmia" 1 3 0 0 0 1 GO:0048638 "regulation of developmental growth" 1 0 0 0 0 1 MONDO:0016210 "alternating hemiplegia" 0 2 0 0 0 0 MONDO:0002658 "iris cancer" 1 7 0 0 0 1 @@ -28702,7 +28728,7 @@ UBERON:0008845 "nonskeletal ligament" 0 0 0 0 0 0 MONDO:0054805 "microcephaly 22, primary, autosomal recessive" 0 1 0 0 0 0 UBERON:0003403 "skin of forearm" 0 0 0 0 0 1 GO:0016814 "hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines" 1 0 0 0 0 0 -MONDO:0001372 "bladder neck cancer" 1 4 0 0 0 1 +MONDO:0001372 "bladder neck cancer" 1 3 0 0 0 1 NCBITaxon:7387 "Oestridae" 0 1 0 0 0 0 http://identifiers.org/hgnc/24525 "MMACHC" 0 0 0 0 0 0 http://identifiers.org/hgnc/17142 "OPTN" 0 0 0 0 0 0 @@ -28723,22 +28749,21 @@ CHEBI:33424 "sulfur oxoacid derivative" 0 0 0 0 0 0 http://identifiers.org/hgnc/8022 "NT5C2" 0 0 0 0 0 0 MONDO:0010830 "neuronal ceroid lipofuscinosis 8" 1 8 0 0 0 1 MONDO:0016712 "classic medulloblastoma" 1 6 0 0 0 0 -MONDO:0011167 "type 1 diabetes mellitus 6" 1 5 0 0 0 0 -MONDO:0011692 "basal ganglia calcification, idiopathic, 2" 0 4 0 0 0 0 +MONDO:0011167 "type 1 diabetes mellitus 6" 1 4 0 0 0 0 UBERON:0002368 "endocrine gland" 0 0 0 0 0 1 -MONDO:0010984 "Usher syndrome type 1D" 1 6 0 0 0 0 +MONDO:0010984 "Usher syndrome type 1D" 1 5 0 0 0 0 GO:0051463 "negative regulation of cortisol secretion" 1 0 0 0 0 1 CHR:9606-chr7q11.23 "7q11.23 (Human)" 0 0 0 0 0 0 HP:0000940 "Abnormal diaphysis morphology" 1 1 0 0 0 0 MONDO:0021192 "odontogenic neoplasm" 1 4 0 0 0 1 http://identifiers.org/hgnc/18540 "CPT1C" 0 0 0 0 0 0 -MONDO:0001215 "allescheriosis" 1 5 0 0 0 1 +MONDO:0001215 "allescheriosis" 1 4 0 0 0 1 MONDO:0013731 "MEGF10-Related Myopathy" 0 7 0 0 0 0 UBERON:0007125 "pharyngeal pouch 4" 0 0 0 0 0 1 MONDO:0000434 "obsolete peripheral T-cell lymphoma" 0 0 0 0 0 0 UBERON:0007122 "pharyngeal pouch 1" 0 0 0 0 0 1 CHR:9606-chrXq22 "Xq22 (Human)" 0 0 0 0 0 0 -MONDO:0009973 "reticular dysgenesis" 1 9 0 0 0 0 +MONDO:0009973 "reticular dysgenesis" 1 8 0 0 0 0 CL:0010009 "camera-type eye photoreceptor cell" 0 0 0 0 0 1 HP:0011962 "Obstructive azoospermia" 1 1 0 0 0 0 GO:0090066 "regulation of anatomical structure size" 1 0 0 0 0 0 @@ -28761,7 +28786,7 @@ UBERON:0004103 "alveolar ridge" 0 0 0 0 0 0 CHEBI:25046 "linear tetrapyrrole" 0 0 0 0 0 0 MONDO:0010695 "occipital hair, white lock of" 0 1 0 0 0 0 MONDO:0002127 "urethral stricture" 1 7 0 0 0 0 -MONDO:0000270 "lower respiratory tract disorder" 1 5 0 0 0 1 +MONDO:0000270 "lower respiratory tract disorder" 1 8 0 0 0 1 CL:1000612 "kidney corpuscule cell" 0 1 0 0 0 1 GO:2000283 "negative regulation of cellular amino acid biosynthetic process" 1 0 0 0 0 1 MONDO:0006013 "visna disease" 1 3 0 0 0 1 @@ -28772,7 +28797,7 @@ CHEBI:139590 "primary alpha-hydroxy ketone" 1 0 0 0 0 0 MONDO:0019071 "pure hair and nail ectodermal dysplasia" 1 6 0 0 0 0 MONDO:0009747 "Navajo neurohepatopathy" 0 5 0 0 0 0 MONDO:0019739 "atypical hemolytic-uremic syndrome with anti-factor H antibodies" 0 4 0 0 0 0 -MONDO:0004671 "penis carcinoma in situ" 1 8 0 0 0 1 +MONDO:0004671 "penis carcinoma in situ" 1 6 0 0 0 1 MONDO:0015474 "cryptosporidiosis" 1 11 0 0 0 1 MONDO:0001068 "osteomalacia" 1 8 0 0 0 0 http://identifiers.org/hgnc/8941 "SERPINA1" 0 0 0 0 0 0 @@ -28780,7 +28805,7 @@ http://identifiers.org/hgnc/18085 "TMEM199" 0 0 0 0 0 0 http://identifiers.org/hgnc/491 "ANGPTL3" 0 0 0 0 0 0 GO:0061702 "inflammasome complex" 1 0 0 0 0 0 MONDO:0007820 "fused mandibular incisors" 1 6 0 0 0 0 -MONDO:0006993 "systolic heart failure" 1 10 0 0 0 0 +MONDO:0006993 "systolic heart failure" 1 8 0 0 0 0 http://identifiers.org/hgnc/17095 "LARS2" 0 0 0 0 0 0 CL:0000507 "endorphin secreting cell" 1 0 0 0 0 0 ECTO:9001712 "exposure to antiparasitic agent" 1 0 0 0 0 1 @@ -28846,9 +28871,9 @@ UBERON:0000487 "simple squamous epithelium" 0 0 0 0 0 1 UBERON:0035004 "preputial swelling" 0 0 0 0 0 0 UBERON:0034921 "multi organ part structure" 0 0 0 0 0 0 MONDO:0015437 "ring chromosome 21" 1 6 0 0 0 1 -MONDO:0043579 "enteritis" 1 4 0 0 0 1 +MONDO:0043579 "enteritis" 1 5 0 0 0 1 MONDO:0018599 "congenital oculomotor nerve palsy" 0 2 0 0 0 0 -MONDO:0002314 "chronic conjunctivitis" 1 8 0 0 0 1 +MONDO:0002314 "chronic conjunctivitis" 1 7 0 0 0 1 MONDO:0004969 "acute quadriplegic myopathy" 1 1 0 0 0 0 MONDO:0011277 "obsolete leukoregulin" 0 1 0 0 0 0 MONDO:0100185 "immune reconstitution inflammatory syndrome" 1 0 0 0 0 0 @@ -28870,7 +28895,7 @@ http://identifiers.org/hgnc/2472 "CSRP3" 0 0 0 0 0 0 MONDO:0008984 "ciliary discoordination due to random ciliary orientation" 0 6 0 0 0 0 http://identifiers.org/hgnc/6174 "ITM2B" 0 0 0 0 0 0 MONDO:0022552 "Bazopoulou Kyrkanidou syndrome" 0 2 0 0 0 0 -MONDO:0011572 "type 1 diabetes mellitus 18" 1 5 0 0 0 0 +MONDO:0011572 "type 1 diabetes mellitus 18" 1 4 0 0 0 0 MONDO:0002360 "chondroma" 1 6 0 0 0 0 CL:0002294 "type-1 epithelial cell of thymus" 1 1 0 0 0 0 CL:0000447 "carbohydrate secreting cell" 0 0 0 0 0 0 @@ -28882,12 +28907,12 @@ MONDO:0010131 "thyroid hormone resistance, generalized, autosomal recessive" 1 5 MONDO:0007490 "carpotarsal osteochondromatosis" 1 7 0 0 0 0 NCBITaxon:526524 "Erysipelotrichia" 0 2 0 0 0 0 MONDO:0005890 "osteitis fibrosa" 1 6 0 0 0 0 -MONDO:0006346 "pancreatic acinar cell carcinoma" 1 11 0 0 0 1 +MONDO:0006346 "pancreatic acinar cell carcinoma" 1 6 0 0 0 1 UBERON:0003339 "ganglion of central nervous system" 0 0 0 0 0 1 MONDO:0015436 "ring chromosome 20" 1 7 0 0 0 1 UBERON:0006716 "mesopodium region" 0 0 0 0 0 1 GO:0045936 "negative regulation of phosphate metabolic process" 1 0 0 0 0 1 -MONDO:0014009 "autosomal recessive congenital ichthyosis 7" 1 5 0 0 0 0 +MONDO:0014009 "autosomal recessive congenital ichthyosis 7" 1 4 0 0 0 0 GO:0002377 "immunoglobulin production" 1 0 0 0 0 0 MONDO:0020666 "Löfgren syndrome" 1 1 0 0 0 0 NCBITaxon:455381 "Capillariidae" 0 1 0 0 0 0 @@ -28907,7 +28932,7 @@ GO:0050308 "sugar-phosphatase activity" 1 0 0 0 0 0 MONDO:0044314 "retinitis pigmentosa 78" 0 3 0 0 0 0 HP:0005541 "Congenital agranulocytosis" 1 3 0 0 0 0 MONDO:0002236 "ocular cancer" 1 7 0 0 0 1 -MONDO:0003414 "skin pilomatrix carcinoma" 1 8 0 0 0 0 +MONDO:0003414 "skin pilomatrix carcinoma" 1 6 0 0 0 0 MONDO:0003787 "childhood testicular mixed germ cell cancer" 1 3 0 0 0 1 GO:0048738 "cardiac muscle tissue development" 1 0 0 0 0 0 UBERON:0003371 "pelvic appendage bud ectoderm" 0 0 0 0 0 1 @@ -28919,7 +28944,7 @@ MONDO:0026767 "immunodeficiency 74, COVID-19-related, X-linked" 0 1 0 0 0 0 MONDO:0007118 "isolated anhidrosis with normal sweat glands" 1 4 0 0 0 1 MONDO:0012291 "immunoglobulin A deficiency 2" 1 4 0 0 0 1 MONDO:0008325 "Pseudoatrophoderma colli" 0 4 0 0 0 0 -MONDO:0012485 "autosomal recessive nonsyndromic hearing loss 68" 1 6 0 0 0 1 +MONDO:0012485 "autosomal recessive nonsyndromic hearing loss 68" 1 5 0 0 0 1 MONDO:0003555 "Bartholin gland adenosquamous carcinoma" 1 3 0 0 0 1 GO:1900248 "negative regulation of cytoplasmic translational elongation" 1 0 0 0 0 1 MONDO:0005368 "obsolete obsessive-compulsive disorder" 0 0 0 0 0 0 @@ -28948,7 +28973,7 @@ http://identifiers.org/hgnc/12840 "YARS1" 0 0 0 0 0 0 http://identifiers.org/hgnc/15968 "GDAP1" 0 0 0 0 0 0 MONDO:0025449 "paratuberculosis" 1 2 0 0 0 0 MONDO:0003409 "colonic disorder" 1 4 0 0 0 1 -MONDO:0016785 "complete hydatidiform mole" 1 8 0 0 0 0 +MONDO:0016785 "complete hydatidiform mole" 1 7 0 0 0 0 MONDO:0006677 "bile reflux" 1 4 0 0 0 0 MONDO:0011914 "hypotrichosis-lymphedema-telangiectasia syndrome" 0 5 0 0 0 0 GO:1905902 "regulation of mesoderm formation" 1 0 0 0 0 1 @@ -28980,11 +29005,11 @@ MONDO:0008355 "pyloric stenosis, infantile hypertrophic, 1" 0 2 0 0 0 0 MONDO:0008333 "pseudoxanthoma elasticum, forme fruste" 1 3 0 0 0 0 UBERON:0000388 "epiglottis" 0 0 0 0 0 0 MONDO:0012029 "microcephaly 6, primary, autosomal recessive" 1 4 0 0 0 1 -MONDO:0019497 "nonsyndromic genetic hearing loss" 1 7 0 0 0 1 +MONDO:0019497 "nonsyndromic genetic hearing loss" 1 6 0 0 0 1 MONDO:0008215 "adult-onset autosomal dominant demyelinating leukodystrophy" 1 7 0 0 0 0 NCBITaxon:783 "Rickettsia rickettsii" 0 1 0 0 0 0 MONDO:0012924 "Diamond-Blackfan anemia 4" 1 3 0 0 0 1 -MONDO:0011602 "autosomal recessive nonsyndromic hearing loss 27" 1 6 0 0 0 0 +MONDO:0011602 "autosomal recessive nonsyndromic hearing loss 27" 1 5 0 0 0 0 UBERON:0003831 "respiratory system muscle" 0 0 0 0 0 1 MONDO:0015438 "ring chromosome 22" 1 6 0 0 0 1 MONDO:0000731 "obsolete peeling skin syndrome" 0 0 0 0 0 0 @@ -29004,7 +29029,7 @@ MONDO:0015207 "non-syndromic esophageal malformation" 1 1 0 0 0 1 MONDO:0007998 "microspherophakia-metaphyseal dysplasia syndrome" 1 6 0 0 0 0 CHR:9606-chr4 "chromosome 4 (Human)" 0 0 0 0 0 0 MONDO:0008304 "premature chromatid separation trait" 0 3 0 0 0 0 -MONDO:0014591 "autosomal dominant Robinow syndrome 2" 1 6 0 0 0 1 +MONDO:0014591 "autosomal dominant Robinow syndrome 2" 1 5 0 0 0 1 NCBITaxon:28901 "Salmonella enterica" 0 5 0 0 0 0 NCBITaxon:967 "Spirillum" 0 2 0 0 0 0 CL:0011013 "motile sperm cell" 1 0 0 0 0 1 @@ -29013,9 +29038,8 @@ CHEBI:33250 "atom" 1 0 0 0 0 0 MONDO:0017742 "disorder of O-xylosylglycan synthesis" 0 3 0 0 0 0 UBERON:0014887 "distal epiphysis of distal phalanx of digit" 0 0 0 0 0 1 GO:1904774 "negative regulation of ubiquinone biosynthetic process" 1 0 0 0 0 1 -MONDO:0030032 "chromosome 17q11.2 duplication syndrome, 1.4-mb" 0 1 0 0 0 0 MONDO:0009289 "obsolete glycogen storage disease IC" 0 0 0 0 0 0 -MONDO:0005965 "spinal stenosis" 1 12 0 0 0 0 +MONDO:0005965 "spinal stenosis" 1 8 0 0 0 0 MONDO:0003039 "nominal aphasia" 1 3 0 0 0 0 GO:0033143 "regulation of intracellular steroid hormone receptor signaling pathway" 1 0 0 0 0 1 MONDO:0024326 "pleural adenomatoid tumor" 1 1 0 0 0 1 @@ -29032,7 +29056,7 @@ MONDO:0015288 "herpes simplex virus keratitis" 1 9 0 0 0 1 http://identifiers.org/hgnc/1836 "CEBPE" 0 0 0 0 0 0 MONDO:0012520 "insulin-resistance syndrome type A" 1 7 0 0 0 0 MONDO:0011414 "Peters anomaly" 1 11 0 0 0 0 -MONDO:0021063 "malignant colon neoplasm" 1 9 0 0 0 1 +MONDO:0021063 "malignant colon neoplasm" 1 7 0 0 0 1 GO:0045920 "negative regulation of exocytosis" 1 0 0 0 0 1 GO:0008643 "carbohydrate transport" 1 0 0 0 0 0 MONDO:0018829 "familial schizencephaly" 1 5 0 0 0 1 @@ -29052,7 +29076,7 @@ MONDO:0014554 "obsolete infantile multisystem neurologic-endocrine-pancreatic di MONDO:0054866 "sudden arrhythmia death syndrome" 0 3 0 0 0 0 GO:1902476 "chloride transmembrane transport" 1 0 0 0 0 0 MONDO:0015751 "craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome" 1 4 0 0 0 0 -MONDO:0008039 "tropical spastic paraparesis" 1 11 0 0 0 0 +MONDO:0008039 "tropical spastic paraparesis" 1 10 0 0 0 0 GO:2000065 "negative regulation of cortisol biosynthetic process" 1 0 0 0 0 1 UBERON:0005096 "descending thin limb" 0 0 0 0 0 0 http://identifiers.org/hgnc/1833 "CEBPA" 0 0 0 0 0 0 @@ -29064,7 +29088,7 @@ CHEBI:33306 "carbon group element atom" 0 0 0 0 0 0 MONDO:0019137 "non-24-hour sleep-wake syndrome" 1 5 0 0 0 0 MONDO:0019270 "erythrokeratoderma" 0 4 0 0 0 0 http://identifiers.org/hgnc/6107 "PDX1" 0 0 0 0 0 0 -MONDO:0006497 "cerebral palsy" 1 13 0 0 0 0 +MONDO:0006497 "cerebral palsy" 1 12 0 0 0 0 MONDO:0010667 "Prieto syndrome" 1 7 0 0 0 0 GO:1905207 "regulation of cardiocyte differentiation" 1 0 0 0 0 1 MONDO:0017256 "idiopathic anterior uveitis" 0 8 0 0 0 1 @@ -29103,10 +29127,10 @@ GO:0120036 "plasma membrane bounded cell projection organization" 1 0 0 0 0 0 MONDO:0001723 "progressive peripheral pterygium" 0 4 0 0 0 0 MONDO:0100391 "acute myeloid leukemia, t(2;12)" 1 1 0 0 0 0 MONDO:0009363 "hydrocephaly-tall stature-joint laxity syndrome" 1 7 0 0 0 0 -MONDO:0013480 "renal hypomagnesemia 6" 0 6 0 0 0 0 +MONDO:0013480 "renal hypomagnesemia 6" 0 5 0 0 0 0 GO:0051707 "response to other organism" 1 0 0 0 0 0 MONDO:0020658 "infiltrating ureter transitional cell carcinoma" 0 1 0 0 0 1 -MONDO:0002124 "secondary lacrimal atrophy" 0 4 0 0 0 0 +MONDO:0002124 "secondary lacrimal atrophy" 0 3 0 0 0 0 MONDO:0010782 "myopathy, lactic acidosis, and sideroblastic anemia 3" 0 4 0 0 0 0 http://identifiers.org/hgnc/8773 "PDE11A" 0 0 0 0 0 0 MONDO:0015435 "ring chromosome 19" 1 6 0 0 0 1 @@ -29115,7 +29139,7 @@ NCBITaxon:42230 "Mansonella" 0 1 0 0 0 0 MONDO:0008676 "white sponge nevus 1" 1 4 0 0 0 1 MONDO:0017368 "obsolete systemic disease with skin involvement" 0 2 0 0 0 0 MONDO:0001593 "rectal disorder" 1 5 0 0 0 1 -MONDO:0004775 "lens-induced iridocyclitis" 0 5 0 0 0 0 +MONDO:0004775 "lens-induced iridocyclitis" 0 4 0 0 0 0 MONDO:0019594 "obsolete 46,XY disorder of sex development due to a testosterone synthesis defect" 0 2 0 0 0 0 GO:0001976 "nervous system process involved in regulation of systemic arterial blood pressure" 1 0 0 0 0 1 NCBITaxon:11072 "Japanese encephalitis virus" 0 1 0 0 0 0 @@ -29133,7 +29157,7 @@ MONDO:0011924 "panic disorder 2" 0 2 0 0 0 0 MONDO:0014135 "pulmonary hypertension, primary, 3" 1 3 0 0 0 1 MONDO:0007054 "acromial dimples" 0 2 0 0 0 0 MONDO:0015716 "moderately severe hemophilia B" 1 3 0 0 0 0 -MONDO:0021644 "esophageal varices without bleeding" 0 5 0 0 0 0 +MONDO:0021644 "esophageal varices without bleeding" 0 4 0 0 0 0 GO:0047045 "testosterone 17-beta-dehydrogenase (NADP+) activity" 1 0 0 0 0 0 GO:0042645 "mitochondrial nucleoid" 1 0 0 0 0 1 HP:0000508 "Ptosis" 1 3 0 0 0 0 @@ -29161,11 +29185,11 @@ ECTO:9001804 "exposure to protein synthesis inhibitor" 1 0 0 0 0 1 MONDO:0012010 "coronary heart disease, susceptibility to, 4" 0 2 0 0 0 0 MONDO:0020836 "autism, susceptiblity to" 0 1 0 0 0 1 MONDO:0008686 "isolated familial woolly hair disorder" 1 13 0 0 0 0 -MONDO:0007411 "cutis laxa, autosomal dominant 1" 1 5 0 0 0 1 +MONDO:0007411 "cutis laxa, autosomal dominant 1" 1 4 0 0 0 1 MONDO:0002642 "trochlear nerve neoplasm" 1 5 0 0 0 1 ENVO:01001054 "non-saline aerosol environment"@en 1 0 0 0 0 1 MONDO:0018567 "autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation" 0 4 0 0 0 1 -MONDO:0001630 "branch retinal artery occlusion" 1 7 0 0 0 0 +MONDO:0001630 "branch retinal artery occlusion" 1 6 0 0 0 0 MONDO:0008869 "Seckel syndrome 1" 1 6 0 0 0 1 MONDO:0020640 "autoimmune encephalitis" 1 3 0 0 0 1 MONDO:0021658 "vascular ectasia" 0 2 0 0 0 0 @@ -29211,7 +29235,7 @@ UBERON:0010384 "lumen of laryngopharynx" 0 0 0 0 0 1 MONDO:0007053 "restless legs syndrome 1" 0 4 0 0 0 0 MONDO:0003434 "vaginal adenoma" 1 3 0 0 0 1 UBERON:2000364 "hypural" 0 0 0 0 0 0 -MONDO:0016044 "cleft lip/palate" 1 26 0 0 0 0 +MONDO:0016044 "cleft lip/palate" 1 27 0 0 0 0 MONDO:0013747 "atrioventricular septal defect 4" 1 3 0 0 0 1 MONDO:0014751 "palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome" 1 3 0 0 0 0 UBERON:0010213 "laryngeal pre-cartilage condensation" 0 0 0 0 0 0 @@ -29230,7 +29254,7 @@ GO:0005759 "mitochondrial matrix" 1 0 0 0 0 0 GO:2000381 "negative regulation of mesoderm development" 1 0 0 0 0 1 MONDO:0100452 "RPE65-related dominant retinopathy" 1 0 0 0 0 0 MONDO:0013391 "sterol carrier protein 2 deficiency" 1 5 0 0 0 0 -MONDO:0018113 "isolated plagiocephaly" 1 5 0 0 0 0 +MONDO:0018113 "isolated plagiocephaly" 1 4 0 0 0 0 MONDO:0015434 "ring chromosome 18" 1 7 0 0 0 1 MONDO:0015505 "tracheal anomaly" 0 1 0 0 0 0 UBERON:0006063 "cartilaginous neural arch" 0 0 0 0 0 0 @@ -29243,11 +29267,11 @@ UBERON:0001219 "ileocolic vein" 0 0 0 0 0 1 CHEBI:37577 "heteroatomic molecular entity" 1 0 0 0 0 0 MONDO:0001544 "tibial nerve palsy" 0 4 0 0 0 0 MONDO:0017304 "ocular albinism" 1 8 0 0 0 0 -MONDO:0001547 "atrophic nonflaccid tympanic membrane" 0 5 0 0 0 0 +MONDO:0001547 "atrophic nonflaccid tympanic membrane" 0 4 0 0 0 0 MONDO:0018582 "GCGR-related hyperglucagonemia" 0 4 0 0 0 0 MONDO:0010577 "hearing loss, X-linked 1" 0 5 0 0 0 0 GO:0032275 "luteinizing hormone secretion" 1 0 0 0 0 0 -MONDO:0000920 "duodenum cancer" 1 8 0 0 0 1 +MONDO:0000920 "duodenum cancer" 1 7 0 0 0 1 CHR:9606-chr2p16.1-p15 "2p16.1-p15 (Human)" 0 0 0 0 0 0 MONDO:0004714 "atrophic muscular disease" 1 2 0 0 0 0 MONDO:0006913 "pneumococcal meningitis" 1 9 0 0 0 1 @@ -29257,7 +29281,7 @@ MONDO:0007515 "ectopia pupillae" 0 5 0 0 0 0 MONDO:0018603 "interstitial lung disease due to SP-C deficiency" 0 4 0 0 0 0 MONDO:0041154 "disorder of neck of urinary bladder" 0 1 0 0 0 1 MONDO:0012026 "obsolete myotonia, potassium-aggravated" 0 0 0 0 0 0 -MONDO:0005976 "syphilis" 1 9 0 0 0 1 +MONDO:0005976 "syphilis" 1 8 0 0 0 1 HP:0002617 "Vascular dilatation" 1 6 0 0 0 0 UBERON:2001457 "postcranial axial cartilage" 0 0 0 0 0 1 NCBITaxon:5654 "Trypanosomatidae" 0 1 0 0 0 0 @@ -29292,13 +29316,12 @@ MONDO:0009847 "pericardial effusion, chronic" 1 3 0 0 0 1 MONDO:0012546 "nephrotic syndrome, type 3" 1 3 0 0 0 1 MONDO:0002636 "accessory nerve disorder" 1 6 0 0 0 1 MONDO:0042968 "partial duplication of chromosome 12" 0 0 0 0 0 1 -MONDO:0009250 "fructose utilization" 0 1 0 0 0 0 UBERON:0012353 "fin skeleton" 0 0 0 0 0 1 GO:0009060 "aerobic respiration" 1 0 0 0 0 0 MONDO:0013599 "autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome" 1 5 0 0 0 1 NCBITaxon:468 "Moraxellaceae" 0 2 0 0 0 0 CHR:9606-chr16 "chromosome 16 (Human)" 0 0 0 0 0 0 -MONDO:0018906 "follicular lymphoma" 1 20 0 0 0 0 +MONDO:0018906 "follicular lymphoma" 1 19 0 0 0 0 http://identifiers.org/hgnc/12631 "USP8" 0 0 0 0 0 0 GO:2000349 "negative regulation of CD40 signaling pathway" 1 0 0 0 0 1 MONDO:0006168 "obsolete common hematopoietic neoplasm" 0 2 0 0 0 0 @@ -29307,17 +29330,17 @@ CL:0000973 "IgA memory B cell" 1 0 0 0 0 1 UBERON:0003229 "epithelium of elbow" 0 0 0 0 0 1 GO:0050766 "positive regulation of phagocytosis" 1 0 0 0 0 1 HP:0040211 "Abnormal skin morphology of the palm" 1 1 0 0 0 0 -MONDO:0020082 "dendritic cell tumor" 1 7 0 0 0 1 +MONDO:0020082 "dendritic cell tumor" 1 6 0 0 0 1 MONDO:0009999 "autosomal recessive Robinow syndrome" 1 7 0 0 0 1 MONDO:0022559 "benign angiitis of the central nervous system" 1 1 0 0 0 0 -MONDO:0003117 "somatoform disorder" 1 11 0 0 0 0 +MONDO:0003117 "somatoform disorder" 1 10 0 0 0 0 http://identifiers.org/hgnc/4796 "HAAO" 0 0 0 0 0 0 MONDO:0002408 "hereditary hyperbilirubinemia" 1 5 0 0 0 1 MONDO:0008520 "brachydactyly-elbow wrist dysplasia syndrome" 1 7 0 0 0 0 MONDO:0018882 "vasculitis" 1 12 0 0 0 1 UBERON:0035286 "lateral wall of oropharynx" 0 0 0 0 0 1 MONDO:0019048 "obsolete rare vascular disease" 1 1 0 0 0 0 -MONDO:0005682 "bronchopneumonia" 1 8 0 0 0 0 +MONDO:0005682 "bronchopneumonia" 1 7 0 0 0 0 MONDO:0013499 "Fanconi anemia complementation group P" 1 2 0 0 0 1 UBERON:0036294 "mucosa of lip" 0 0 0 0 0 1 UBERON:0010134 "secretory circumventricular organ" 0 0 0 0 0 1 @@ -29333,7 +29356,7 @@ UBERON:0003942 "somatic sensory system" 0 0 0 0 0 1 MONDO:0003807 "obsolete follicular thyroid adenoma" 0 0 0 0 0 0 MONDO:0017494 "obsolete congenital absence of upper arm and forearm with hand present, unilateral" 0 2 0 0 0 0 CHEBI:35573 "organic mancude parent" 0 0 0 0 0 0 -MONDO:0014010 "autosomal recessive congenital ichthyosis 9" 1 5 0 0 0 1 +MONDO:0014010 "autosomal recessive congenital ichthyosis 9" 1 4 0 0 0 1 HP:0003351 "Decreased circulating renin level" 1 1 0 0 0 0 MONDO:0100270 "peroxisome biogenesis disorder due to PEX19 defect" 1 0 0 0 0 0 MONDO:0008107 "nystagmus, hereditary vertical" 0 4 0 0 0 0 @@ -29359,7 +29382,7 @@ UBERON:0001781 "layer of retina" 0 0 0 0 0 0 UBERON:0004319 "distal phalanx of pedal digit 5" 0 0 0 0 0 1 MONDO:0020699 "biotin metabolic disease" 1 0 0 0 0 1 GO:0032353 "negative regulation of hormone biosynthetic process" 1 0 0 0 0 1 -MONDO:0002342 "chondromalacia" 1 7 0 0 0 0 +MONDO:0002342 "chondromalacia" 1 6 0 0 0 0 MONDO:0003727 "animal phobia" 1 3 0 0 0 0 MONDO:0007531 "electroencephalographic peculiarity: fronto-precentral beta wave groups" 0 1 0 0 0 0 MONDO:0004316 "acantholytic squamous cell skin carcinoma" 1 4 0 0 0 0 @@ -29406,13 +29429,13 @@ MONDO:0008557 "Paris-Trousseau thrombocytopenia" 1 6 0 0 0 0 MONDO:0010795 "oncocytic neoplasm" 1 4 0 0 0 0 MONDO:0011772 "B4GALT1-CDG" 1 8 0 0 0 0 MONDO:0018036 "obsolete immunodeficiency due to absence of thymus" 0 2 0 0 0 0 -MONDO:0005680 "Brill-Zinsser disease" 1 7 0 0 0 0 -MONDO:0012943 "retinitis pigmentosa 46" 1 6 0 0 0 1 +MONDO:0005680 "Brill-Zinsser disease" 1 6 0 0 0 0 +MONDO:0012943 "retinitis pigmentosa 46" 1 5 0 0 0 1 MONDO:0007269 "dilated cardiomyopathy 1A" 1 7 0 0 0 1 MONDO:0006621 "vulvar inverted follicular keratosis" 1 4 0 0 0 1 UBERON:0004224 "muscular coat of vas deferens" 0 0 0 0 0 1 MONDO:0004057 "micropapillary variant infiltrating bladder urothelial carcinoma" 1 4 0 0 0 0 -MONDO:0013011 "atrial septal defect 5" 1 6 0 0 0 1 +MONDO:0013011 "atrial septal defect 5" 1 5 0 0 0 1 MONDO:0024757 "cardiovascular neoplasm" 1 3 0 0 0 1 UBERON:0007750 "metatarsophalangeal joint of pedal digit 1" 0 0 0 0 0 1 GO:0061134 "peptidase regulator activity" 1 0 0 0 0 1 @@ -29447,7 +29470,7 @@ UBERON:0005020 "mucosa of tongue" 0 0 0 0 0 1 MONDO:0016205 "IRVAN syndrome" 0 4 0 0 0 0 http://identifiers.org/hgnc/6026 "CXCR1" 0 0 0 0 0 0 UBERON:0036225 "respiratory system gland" 0 0 0 0 0 1 -MONDO:0001352 "round ligament malignant neoplasm" 1 5 0 0 0 1 +MONDO:0001352 "round ligament malignant neoplasm" 1 4 0 0 0 1 MONDO:0006186 "duodenal adenocarcinoma" 1 6 0 0 0 1 UBERON:0000013 "sympathetic nervous system" 0 0 0 0 0 0 MONDO:0043170 "Pavone Fiumara Rizzo syndrome" 0 3 0 0 0 0 @@ -29483,10 +29506,10 @@ MONDO:0003677 "lateral myocardial infarction" 0 1 0 0 0 0 http://identifiers.org/hgnc/29092 "OBSL1" 0 0 0 0 0 0 MONDO:0019092 "infantile apnea" 1 5 0 0 0 0 MONDO:0010066 "familial isolated congenital asplenia" 1 5 0 0 0 0 -MONDO:0007885 "Legg-Calve-Perthes disease" 1 13 0 0 0 0 +MONDO:0007885 "Legg-Calve-Perthes disease" 1 10 0 0 0 0 MONDO:0009465 "multiple intestinal atresia" 1 10 0 0 0 0 GO:0009123 "nucleoside monophosphate metabolic process" 1 0 0 0 0 0 -MONDO:0002691 "liver cancer" 1 11 0 0 0 1 +MONDO:0002691 "liver cancer" 1 9 0 0 0 1 MONDO:0011260 "pancreatic lymphoma, familial" 1 3 0 0 0 1 MONDO:0030846 "spermatogenic failure 48" 0 1 0 0 0 0 http://identifiers.org/hgnc/17869 "AFF4" 0 0 0 0 0 0 @@ -29521,14 +29544,14 @@ MONDO:0008177 "extramammary Paget disease" 1 12 0 0 0 0 MONDO:0009552 "mal de Meleda" 1 8 0 0 0 0 MONDO:0008001 "milia, multiple eruptive" 0 4 0 0 0 0 MONDO:0100396 "acute myeloid leukemia, t(7;12)(q36;p13)" 1 2 0 0 0 0 -MONDO:0014102 "hypogonadotropic hypogonadism 17 with or without anosmia" 1 5 0 0 0 1 +MONDO:0014102 "hypogonadotropic hypogonadism 17 with or without anosmia" 1 4 0 0 0 1 MONDO:0010408 "syndactyly-telecanthus-anogenital and renal malformations syndrome" 1 7 0 0 0 0 UBERON:0003682 "palatal muscle" 0 0 0 0 0 1 -MONDO:0013453 "Leber congenital amaurosis 8" 1 5 0 0 0 1 +MONDO:0013453 "Leber congenital amaurosis 8" 1 4 0 0 0 1 MONDO:0017108 "isolated total cerebellar vermis agenesis" 0 2 0 0 0 0 MONDO:0019081 "obsolete alopecia universalis" 0 0 0 0 0 0 MONDO:0002397 "liver sarcoma" 1 4 0 0 0 1 -MONDO:0000465 "atrioventricular block" 1 9 0 0 0 0 +MONDO:0000465 "atrioventricular block" 1 7 0 0 0 0 UBERON:0007619 "limiting membrane of retina" 0 0 0 0 0 0 CL:2000027 "cerebellum basket cell" 1 0 0 0 0 1 MONDO:0005289 "paranasal sinus neoplasm" 1 6 0 0 0 1 @@ -29566,20 +29589,19 @@ UBERON:0004832 "anal region skeletal muscle" 0 0 0 0 0 1 MONDO:0100107 "non-neonatal early infantile epileptic encephalopathy" 1 0 0 0 0 0 http://identifiers.org/hgnc/12563 "UMPS" 0 0 0 0 0 0 http://identifiers.org/hgnc/1152 "BVES" 0 0 0 0 0 0 -MONDO:0009959 "peroxisome biogenesis disorder type 3B" 1 7 0 0 0 0 +MONDO:0009959 "peroxisome biogenesis disorder type 3B" 1 6 0 0 0 0 FOODON:03460180 "obsolete: food added"@en 0 1 0 0 0 0 HP:0002977 "Aplasia/Hypoplasia involving the central nervous system" 1 1 0 0 0 0 MONDO:0013623 "platelet-type bleeding disorder 11" 1 8 0 0 0 1 MONDO:0020670 "antithrombin deficiency type 2" 0 2 0 0 0 0 PATO:0001544 "flexible" 1 0 0 0 0 0 -MONDO:0011554 "deafness, nonsyndromic, modifier 1" 0 1 0 0 0 0 NCBITaxon:2731360 "Heunggongvirae" 0 1 0 0 0 0 http://identifiers.org/hgnc/12029 "TRAC" 0 0 0 0 0 0 UBERON:0003295 "pharyngeal gland" 0 0 0 0 0 1 MONDO:0009442 "ichthyosis congenita with biliary atresia" 0 4 0 0 0 0 UBERON:0034905 "gland lumen" 0 0 0 0 0 1 MONDO:0018690 "Holmes-Adie syndrome" 1 10 0 0 0 0 -MONDO:0018301 "interstitial cystitis" 1 16 0 0 0 0 +MONDO:0018301 "interstitial cystitis" 1 15 0 0 0 0 MONDO:0032605 "intellectual disability, autosomal recessive 66" 0 1 0 0 0 0 UBERON:0002275 "reticular formation" 0 0 0 0 0 0 MONDO:0002144 "obsolete hyperuricemia" 0 7 0 0 0 0 @@ -29601,14 +29623,14 @@ MONDO:0000398 "obsolete female breast cancer" 0 0 0 0 0 0 MONDO:0004381 "pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia" 1 5 0 0 0 0 GO:0106120 "positive regulation of sterol biosynthetic process" 1 0 0 0 0 1 GO:0004252 "serine-type endopeptidase activity" 1 0 0 0 0 0 -MONDO:0013114 "autosomal dominant nonsyndromic hearing loss 50" 1 3 0 0 0 1 +MONDO:0013114 "autosomal dominant nonsyndromic hearing loss 50" 1 2 0 0 0 1 MONDO:0003830 "type 1 papillary adenoma of the kidney" 0 3 0 0 0 0 MONDO:0100461 "gastrointestinal defects and immunodeficiency syndrome" 1 2 0 0 0 0 MONDO:0023188 "Freiberg disease" 1 4 0 0 0 0 UBERON:0013751 "metaphysis of radius" 0 0 0 0 0 1 MONDO:0005442 "obsolete type 1 diabetes nephropathy" 0 0 0 0 0 0 http://identifiers.org/hgnc/18505 "RNF43" 0 0 0 0 0 0 -MONDO:0001734 "tuberous sclerosis" 1 9 0 0 0 0 +MONDO:0001734 "tuberous sclerosis" 1 8 0 0 0 0 GO:0017099 "very-long-chain-acyl-CoA dehydrogenase activity" 1 0 0 0 0 0 HP:0001507 "Growth abnormality" 0 1 0 0 0 0 MONDO:0009848 "dissecting cellulitis of the scalp" 1 9 0 0 0 0 @@ -29632,7 +29654,7 @@ MONDO:0023644 "lip and oral cavity carcinoma" 1 4 0 0 0 0 MONDO:0002939 "skin pigmented basal cell carcinoma" 1 4 0 0 0 0 MONDO:0017188 "diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency" 0 3 0 0 0 0 NCBITaxon:1963758 "Myomorpha" 0 1 0 0 0 0 -MONDO:0005485 "psychotic disorder" 1 8 0 0 0 0 +MONDO:0005485 "psychotic disorder" 1 9 0 0 0 0 MONDO:0017572 "tick-borne encephalitis" 1 13 0 0 0 0 MONDO:0005203 "ischemia reperfusion injury" 1 3 0 0 0 0 NCBITaxon:85006 "Micrococcales" 0 6 0 0 0 0 @@ -29649,20 +29671,20 @@ GO:0045836 "positive regulation of meiotic nuclear division" 1 0 0 0 0 1 UBERON:0009846 "embryonic cloacal epithelium" 0 0 0 0 0 1 http://identifiers.org/hgnc/30417 "SH2B1" 0 0 0 0 0 0 MONDO:0000756 "parameningeal embryonal rhabdomyosarcoma" 1 1 0 0 0 0 -MONDO:0011935 "retinitis pigmentosa 30" 1 5 0 0 0 1 +MONDO:0011935 "retinitis pigmentosa 30" 1 4 0 0 0 1 MONDO:0002555 "trigeminal schwannoma" 1 5 0 0 0 1 MONDO:0011166 "lymphedema-atrial septal defects-facial changes syndrome" 1 7 0 0 0 0 UBERON:0001003 "skin epidermis" 0 0 0 0 0 1 MONDO:0021350 "neoplasm of thorax" 1 4 0 0 0 1 -MONDO:0001250 "keratomalacia" 1 7 0 0 0 0 +MONDO:0001250 "keratomalacia" 1 6 0 0 0 0 MONDO:0009425 "hypomandibular faciocranial dysostosis" 1 6 0 0 0 0 CL:0000236 "B cell" 1 4 0 0 0 1 MONDO:0015782 "dysmorphism-cleft palate-loose skin syndrome" 1 2 0 0 0 0 -MONDO:0005029 "essential thrombocythemia" 1 18 0 0 0 0 +MONDO:0005029 "essential thrombocythemia" 1 16 0 0 0 0 MONDO:0013206 "corneal dystrophy, Fuchs endothelial, 6" 1 3 0 0 0 1 MONDO:0015431 "ring chromosome 10" 1 7 0 0 0 1 MONDO:0020172 "palpebral epidermal tumor" 1 3 0 0 0 1 -MONDO:0013395 "retinitis pigmentosa 4" 1 7 0 0 0 1 +MONDO:0013395 "retinitis pigmentosa 4" 1 6 0 0 0 1 http://identifiers.org/hgnc/19100 "IL23R" 0 0 0 0 0 0 GO:0030808 "regulation of nucleotide biosynthetic process" 1 0 0 0 0 1 MONDO:0014136 "pulmonary hypertension, primary, 4" 1 3 0 0 0 1 @@ -29670,7 +29692,7 @@ MONDO:0005543 "autoimmune hepatitis type 1" 1 4 0 0 0 0 CL:0011022 "fibroblast of skin of back" 1 0 0 0 0 1 MONDO:0004095 "B-cell neoplasm" 1 5 0 0 0 1 UBERON:0007354 "cartilage of pharyngotympanic tube" 0 0 0 0 0 1 -MONDO:0002508 "gingivitis" 1 12 0 0 0 1 +MONDO:0002508 "gingivitis" 1 8 0 0 0 1 MONDO:0010696 "omphalocele, X-linked" 0 3 0 0 0 0 ENVO:00001995 "rock" 1 0 0 0 0 0 UBERON:0010062 "pharyngotympanic tube epithelium" 0 0 0 0 0 0 @@ -29683,8 +29705,8 @@ MONDO:0018265 "obsolete rare disorder with dystonia and other neurologic or syst PATO:0001545 "inflexible" 1 0 0 0 0 0 MONDO:0008497 "Stormorken syndrome" 1 9 0 0 0 0 MONDO:0020580 "germinomatous germ cell tumor" 1 2 0 0 0 0 -MONDO:0001385 "cortical blindness" 1 7 0 0 0 1 -MONDO:0001921 "chronic atticoantral disease" 1 7 0 0 0 0 +MONDO:0001385 "cortical blindness" 1 6 0 0 0 1 +MONDO:0001921 "chronic atticoantral disease" 1 5 0 0 0 0 MONDO:0012253 "multiple epiphyseal dysplasia, with severe proximal femoral dysplasia" 1 5 0 0 0 0 http://identifiers.org/hgnc/33867 "SDHAF1" 0 0 0 0 0 0 MONDO:0100338 "urinary tract infection" 0 0 0 0 0 1 @@ -29703,7 +29725,7 @@ NCBITaxon:54285 "Oestrinae" 0 1 0 0 0 0 NCBITaxon:38820 "Poales" 0 2 0 0 0 0 MONDO:0001908 "obsolete hypophosphatasia" 0 0 0 0 0 0 NCBITaxon:314293 "Simiiformes" 0 1 0 0 0 0 -MONDO:0009984 "late-adult onset retinitis pigmentosa" 1 5 0 0 0 0 +MONDO:0009984 "late-adult onset retinitis pigmentosa" 1 4 0 0 0 0 NCBITaxon:13373 "Burkholderia mallei" 0 4 0 0 0 0 MONDO:0024485 "papillary urothelial hyperplasia" 1 1 0 0 0 0 MONDO:0008109 "ocular cicatricial pemphigoid" 1 7 0 0 0 0 @@ -29711,7 +29733,7 @@ MONDO:0013943 "peroxisome biogenesis disorder 8B" 0 4 0 0 0 0 http://identifiers.org/hgnc/7128 "MLH3" 0 0 0 0 0 0 MONDO:0019429 "X-linked neurodegenerative syndrome, Hamel type" 1 4 0 0 0 0 GO:0045598 "regulation of fat cell differentiation" 1 0 0 0 0 1 -MONDO:0001213 "serous glue ear" 1 8 0 0 0 1 +MONDO:0001213 "serous glue ear" 1 6 0 0 0 1 MONDO:0015960 "obsolete rare genetic developmental defect during embryogenesis" 0 2 0 0 0 0 MONDO:0010886 "2q37 microdeletion syndrome" 1 10 0 0 0 1 MONDO:0009221 "femur-fibula-ulna complex" 1 7 0 0 0 0 @@ -29735,8 +29757,8 @@ MONDO:0020871 "obsolete name syndrome" 0 1 0 0 0 0 MONDO:0010401 "X-linked myopathy with postural muscle atrophy" 1 7 0 0 0 0 MONDO:0025082 "helminthiasis, animal" 1 2 0 0 0 0 CL:0000402 "CNS interneuron" 0 0 0 0 0 1 -MONDO:0001541 "plantar nerve lesion" 1 6 0 0 0 1 -MONDO:0004425 "hyperthyroidism" 1 10 0 0 0 0 +MONDO:0001541 "plantar nerve lesion" 1 4 0 0 0 1 +MONDO:0004425 "hyperthyroidism" 1 9 0 0 0 0 MONDO:0009411 "autoimmune polyendocrine syndrome type 1" 1 10 0 0 0 1 MONDO:0021762 "acrocoxomesomelic dysplasia" 1 1 0 0 0 0 http://identifiers.org/hgnc/2212 "COL6A2" 0 0 0 0 0 0 @@ -29778,7 +29800,7 @@ MONDO:0030873 "cardiofacioneurodevelopmental syndrome" 0 1 0 0 0 0 MONDO:0045016 "cholesterol catabolic process disease" 1 2 0 0 0 1 ENVO:01001211 "stellar radiation"@en 1 0 0 0 0 1 PATO:0000001 "quality" 1 0 0 0 0 0 -MONDO:0018375 "traumatic avascular necrosis" 0 2 0 0 0 0 +MONDO:0018375 "traumatic avascular necrosis" 0 1 0 0 0 0 MONDO:0031009 "Glanzmann thrombasthenia 2" 0 1 0 0 0 0 MONDO:0021390 "polyp of ureter" 1 4 0 0 0 1 UBERON:0003714 "neural tissue" 0 0 0 0 0 1 @@ -29786,7 +29808,7 @@ MONDO:0011250 "microcephaly, macrotia, and intellectual disability" 0 3 0 0 0 0 http://identifiers.org/hgnc/2211 "COL6A1" 0 0 0 0 0 0 MONDO:0019064 "hereditary spastic paraplegia" 1 12 0 0 0 0 MONDO:0014816 "split-foot malformation-mesoaxial polydactyly syndrome" 0 3 0 0 0 0 -MONDO:0013052 "retinitis pigmentosa 42" 1 5 0 0 0 1 +MONDO:0013052 "retinitis pigmentosa 42" 1 4 0 0 0 1 MONDO:0003373 "kidney leiomyosarcoma" 1 3 0 0 0 1 MONDO:0000935 "larynx squamous papilloma" 1 3 0 0 0 1 MONDO:0004117 "ampulla of vater small cell neuroendocrine carcinoma" 1 3 0 0 0 1 @@ -29796,7 +29818,7 @@ GO:0010673 "positive regulation of transcription from RNA polymerase II promoter MONDO:0013901 "spermatogenic failure 10" 1 4 0 0 0 1 http://identifiers.org/hgnc/3247 "EHHADH" 0 0 0 0 0 0 HP:0005558 "Chronic leukemia" 1 4 0 0 0 0 -MONDO:0004843 "pathologic nystagmus" 1 7 0 0 0 0 +MONDO:0004843 "pathologic nystagmus" 1 5 0 0 0 0 http://identifiers.org/hgnc/26513 "NSMCE2" 0 0 0 0 0 0 MONDO:0013700 "pancreatic triacylglycerol lipase deficiency" 1 10 0 0 0 0 MONDO:0013869 "adenine phosphoribosyltransferase deficiency" 1 10 0 0 0 0 @@ -29810,14 +29832,14 @@ MONDO:0007727 "autosomal dominant familial periodic fever" 1 8 0 0 0 0 MONDO:0002189 "nodular hidradenoma" 1 4 0 0 0 0 http://identifiers.org/hgnc/10947 "SLC20A2" 0 0 0 0 0 0 MONDO:0013843 "intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency" 1 5 0 0 0 1 -MONDO:0003606 "adrenal medulla cancer" 1 8 0 0 0 1 +MONDO:0003606 "adrenal medulla cancer" 1 7 0 0 0 1 MONDO:0005697 "cerebral toxoplasmosis" 1 5 0 0 0 0 HP:0000532 "Abnormal chorioretinal morphology" 1 1 0 0 0 0 MONDO:0014335 "diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome" 0 4 0 0 0 0 MONDO:0017321 "pili torti-onychodysplasia syndrome" 1 2 0 0 0 0 MONDO:0022020 "Boudhina Yedes Khiari syndrome" 1 3 0 0 0 0 CL:0000027 "smooth muscle cell neural crest derived" 1 0 0 0 0 1 -MONDO:0010085 "Schilder disease" 1 6 0 0 0 0 +MONDO:0010085 "Schilder disease" 1 5 0 0 0 0 MONDO:0008777 "gelatinous drop-like corneal dystrophy" 1 8 0 0 0 0 http://identifiers.org/hgnc/31399 "SLC6A17" 0 0 0 0 0 0 http://identifiers.org/hgnc/21504 "PRY2" 0 0 0 0 0 0 @@ -29829,14 +29851,14 @@ MONDO:0010648 "major affective disorder 2" 0 3 0 0 0 0 MONDO:0007274 "carpal displacement" 0 2 0 0 0 0 MONDO:0018769 "isosporiasis" 1 10 0 0 0 1 MONDO:0020387 "double outlet right ventricle with subpulmonary ventricular septal defect" 0 4 0 0 0 0 -MONDO:0001574 "capillary disorder" 1 7 0 0 0 1 +MONDO:0001574 "capillary disorder" 1 5 0 0 0 1 MONDO:0030471 "Galloway-Mowat syndrome 9" 0 1 0 0 0 0 GO:2000834 "regulation of androgen secretion" 1 0 0 0 0 1 GO:0001568 "blood vessel development" 1 0 0 0 0 0 UBERON:0005295 "sex cord" 0 0 0 0 0 0 MONDO:0010647 "spermatogenic failure, X-linked, 2" 1 3 0 0 0 1 -MONDO:0013273 "chromosome 16p13.3 duplication syndrome" 1 8 0 0 0 1 -MONDO:0006639 "adrenal cortex carcinoma" 1 17 0 0 0 1 +MONDO:0013273 "chromosome 16p13.3 duplication syndrome" 1 7 0 0 0 1 +MONDO:0006639 "adrenal cortex carcinoma" 1 16 0 0 0 1 GO:1901606 "alpha-amino acid catabolic process" 1 0 0 0 0 0 MONDO:0016352 "idiopathic inherited hypercalciuria" 0 4 0 0 0 0 UBERON:0014387 "mesenchyme derived from neural crest" 0 0 0 0 0 1 @@ -29876,11 +29898,11 @@ MONDO:0018351 "adenocarcinoma of penis" 1 6 0 0 0 1 MONDO:0006199 "endometrial undifferentiated carcinoma" 1 3 0 0 0 1 MONDO:0021096 "papillary epithelial neoplasm" 0 2 0 0 0 0 http://identifiers.org/hgnc/20305 "SLC34A3" 0 0 0 0 0 0 -MONDO:0001172 "salpingo-oophoritis" 0 7 0 0 0 1 +MONDO:0001172 "salpingo-oophoritis" 0 4 0 0 0 1 NCBITaxon:1463975 "Cryptostroma corticale" 0 1 0 0 0 0 GO:0016614 "oxidoreductase activity, acting on CH-OH group of donors" 1 0 0 0 0 0 UBERON:0003469 "respiratory system artery" 0 0 0 0 0 1 -MONDO:0001613 "vertebrobasilar insufficiency" 1 7 0 0 0 0 +MONDO:0001613 "vertebrobasilar insufficiency" 1 6 0 0 0 0 CL:2000004 "pituitary gland cell" 1 0 0 0 0 1 CL:0002202 "epithelial cell of tracheobronchial tree" 1 1 0 0 0 1 MONDO:0008208 "patella, familial recurrent dislocation of" 0 3 0 0 0 0 @@ -29916,13 +29938,13 @@ MONDO:0018144 "congenital myasthenic syndromes with glycosylation defect" 0 6 0 MONDO:0001279 "intraspinal meningioma" 1 3 0 0 0 0 MONDO:0100073 "methicillin-resistant staphylococcus aureus infectious disease" 1 0 0 0 0 0 http://identifiers.org/hgnc/7460 "MT-ND4L" 0 0 0 0 0 0 -MONDO:0016526 "trisomy 9p" 1 3 0 0 0 0 +MONDO:0016526 "trisomy 9p" 1 5 0 0 0 0 NCBITaxon:2169971 "Visna-maedi virus" 0 1 0 0 0 0 MONDO:0021725 "obsolete Abderhalden-Kaufmann-Lignac syndrome" 0 0 0 0 0 0 MONDO:0020156 "syndromic ankyloblepharon" 0 2 0 0 0 0 -MONDO:0006770 "giant cell reparative granuloma" 1 8 0 0 0 0 +MONDO:0006770 "giant cell reparative granuloma" 1 7 0 0 0 0 UBERON:0035652 "fibular nerve" 0 0 0 0 0 1 -MONDO:0017792 "7p22.1 microduplication syndrome" 1 4 0 0 0 1 +MONDO:0017792 "7p22.1 microduplication syndrome" 1 3 0 0 0 1 MONDO:0002368 "papillary serous cystadenocarcinoma" 1 5 0 0 0 1 HP:0011390 "Morphological abnormality of the inner ear" 1 1 0 0 0 0 GO:2000293 "negative regulation of defecation" 1 0 0 0 0 1 @@ -29937,11 +29959,10 @@ MONDO:0010780 "mitochondrial myopathy with reversible cytochrome C oxidase defic MONDO:0007772 "pseudohypoaldosteronism type 2A" 0 7 0 0 0 0 GO:0019220 "regulation of phosphate metabolic process" 1 0 0 0 0 1 MONDO:0006081 "anal melanoma" 1 6 0 0 0 1 -MONDO:0009006 "complement component 2 deficiency" 1 7 0 0 0 1 +MONDO:0009006 "complement component 2 deficiency" 1 6 0 0 0 1 MONDO:0005228 "obsolete anaplastic large cell lymphoma" 0 0 0 0 0 0 MONDO:0030270 "lymphatic malformation 9" 0 1 0 0 0 0 -MONDO:0016962 "partial duplication of the long arm of chromosome 11" 0 2 0 0 0 0 -MONDO:0002462 "glomerulonephritis" 1 10 0 0 0 1 +MONDO:0002462 "glomerulonephritis" 1 8 0 0 0 1 MONDO:0003944 "endobronchial leiomyoma" 1 3 0 0 0 1 MONDO:0009901 "Bartsocas-Papas syndrome" 1 7 0 0 0 0 http://identifiers.org/hgnc/11528 "TACR3" 0 0 0 0 0 0 @@ -29951,7 +29972,7 @@ NCBITaxon:2497571 "Polyploviricotina" 0 1 0 0 0 0 MONDO:0005904 "pericarditis" 1 8 0 0 0 1 FOODON:03420293 "fruit core (anatomical part)"@en 1 0 0 0 0 0 MONDO:0019333 "autosomal recessive hyperinsulinism due to SUR1 deficiency" 0 4 0 0 0 0 -MONDO:0001703 "color vision disorder" 1 11 0 0 0 0 +MONDO:0001703 "color vision disorder" 1 10 0 0 0 0 MONDO:0012111 "hypertrophic cardiomyopathy 8" 1 4 0 0 0 1 UBERON:0001119 "right lobe of thyroid gland" 0 0 0 0 0 1 MONDO:0016964 "partial duplication of the long arm of chromosome 14" 0 2 0 0 0 1 @@ -29962,6 +29983,7 @@ MONDO:0100137 "telomere syndrome" 1 0 0 0 0 0 MONDO:0018271 "peripheral primitive neuroectodermal tumor" 1 6 0 0 0 0 MONDO:0010241 "congenital stationary night blindness 2A" 1 3 0 0 0 1 GO:0106122 "negative regulation of cobalamin metabolic process" 1 0 0 0 0 1 +MONDO:0016998 "obsolete complex chromosomal rearrangement" 0 1 0 0 0 0 UBERON:0006234 "femur pre-cartilage condensation" 0 0 0 0 0 1 CHEBI:17883 "hydrogen chloride" 1 0 0 0 0 0 CHEBI:35508 "steroid fundamental parent" 0 0 0 0 0 0 @@ -29973,7 +29995,7 @@ UBERON:0006553 "renal duct" 0 0 0 0 0 1 UBERON:0002365 "exocrine gland" 0 0 0 0 0 1 MONDO:0030870 "premature ovarian failure 17" 0 1 0 0 0 0 UBERON:0015144 "autopod hair" 0 0 0 0 0 1 -MONDO:0002438 "acquired polycythemia" 1 5 0 0 0 1 +MONDO:0002438 "acquired polycythemia" 1 4 0 0 0 1 CHR:9606-chr13q14 "13q14 (Human)" 0 0 0 0 0 0 MONDO:0060677 "chromosome 1p35 deletion syndrome" 0 2 0 0 0 1 MONDO:0019714 "non-syndromic polydactyly, syndactyly and/or hyperphalangy" 0 1 0 0 0 0 @@ -30000,7 +30022,6 @@ MONDO:0014398 "combined oxidative phosphorylation defect type 21" 1 7 0 0 0 1 http://identifiers.org/hgnc/9462 "PRPS1" 0 0 0 0 0 0 MONDO:0009546 "macrosomia adiposa congenita" 0 3 0 0 0 0 MONDO:0022314 "obsolete Hernandez Aguirre-Negrete syndrome" 0 0 0 0 0 0 -MONDO:0016963 "partial duplication of the long arm of chromosome 13" 1 2 0 0 0 0 MPATH:608 "abscess" 1 0 0 0 0 0 MONDO:0017315 "short stature-webbed neck-heart disease syndrome" 1 6 0 0 0 0 http://identifiers.org/hgnc/20207 "B3GLCT" 0 0 0 0 0 0 @@ -30036,7 +30057,7 @@ http://identifiers.org/hgnc/17328 "DTNBP1" 0 0 0 0 0 0 MONDO:0011407 "facial paresis, hereditary congenital, 2" 0 3 0 0 0 0 MONDO:0003234 "optic nerve astrocytoma" 1 5 0 0 0 1 MONDO:0054748 "Fanconi anemia, complementation group S" 0 1 0 0 0 0 -MONDO:0001046 "imperforate anus" 1 9 0 0 0 0 +MONDO:0001046 "imperforate anus" 1 8 0 0 0 0 MONDO:0021080 "blood vessel neoplasm" 1 2 0 0 0 1 MONDO:0020169 "obsolete rare disorder with ptosis" 0 2 0 0 0 0 MONDO:0014886 "severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome" 0 3 0 0 0 0 @@ -30108,7 +30129,7 @@ MONDO:0009933 "congenital pulmonary lymphangiectasia" 1 8 0 0 0 0 http://identifiers.org/hgnc/9644 "PTPN11" 0 0 0 0 0 0 MONDO:0014315 "obsolete Mitchell-Riley syndrome" 0 0 0 0 0 0 http://identifiers.org/hgnc/11115 "KDM5D" 0 0 0 0 0 0 -MONDO:0008758 "mitochondrial DNA depletion syndrome 4a" 1 12 0 0 0 0 +MONDO:0008758 "mitochondrial DNA depletion syndrome 4a" 1 11 0 0 0 0 MONDO:0007293 "leukocyte adhesion deficiency 1" 1 10 0 0 0 1 MONDO:0010275 "spondyloepimetaphyseal dysplasia, Bieganski type" 1 8 0 0 0 0 UBERON:0015149 "ventral hair" 0 0 0 0 0 1 @@ -30120,9 +30141,9 @@ MONDO:0007848 "autosomal dominant keratitis" 1 10 0 0 0 1 http://identifiers.org/hgnc/2719 "DDC" 0 0 0 0 0 0 MONDO:0000133 "immunodeficiency-centromeric instability-facial anomalies syndrome" 1 12 0 0 0 0 GO:0051356 "visual perception involved in equilibrioception" 1 0 0 0 0 1 -MONDO:0017409 "fetal cytomegalovirus syndrome" 1 7 0 0 0 1 +MONDO:0017409 "fetal cytomegalovirus syndrome" 1 6 0 0 0 1 HP:0008055 "Aplasia/Hypoplasia affecting the uvea" 1 1 0 0 0 0 -MONDO:0011302 "type 1 diabetes mellitus 17" 1 5 0 0 0 0 +MONDO:0011302 "type 1 diabetes mellitus 17" 1 4 0 0 0 0 MONDO:0019558 "discoid lupus erythematosus" 1 7 0 0 0 0 MONDO:0001692 "pedophilia" 1 6 0 0 0 0 MONDO:0020534 "obsolete farmer's lung" 0 0 0 0 0 0 @@ -30142,7 +30163,7 @@ MONDO:0019235 "inborn disorder of phenylalanin or tyrosine metabolism" 0 2 0 0 0 MONDO:0007557 "epidermolysis bullosa with congenital localized absence of skin and deformity of nails" 0 5 0 0 0 0 MONDO:0013563 "multiple congenital anomalies-hypotonia-seizures syndrome 1" 1 6 0 0 0 1 HP:0011463 "Childhood onset" 1 1 0 0 0 0 -MONDO:0006007 "vesicoureteral reflux" 1 11 0 0 0 0 +MONDO:0006007 "vesicoureteral reflux" 1 9 0 0 0 0 UBERON:0002268 "olfactory organ" 0 0 0 0 0 1 UBERON:0004492 "cardiac muscle tissue of cardiac septum" 0 0 0 0 0 1 NCBITaxon:53258 "Variola minor virus" 0 1 0 0 0 0 @@ -30158,18 +30179,18 @@ MONDO:0019086 "carcinoma of esophagus" 1 9 0 0 0 1 GO:0014053 "negative regulation of gamma-aminobutyric acid secretion" 1 0 0 0 0 1 CHR:9606-chr4p16 "4p16 (Human)" 0 0 0 0 0 0 MONDO:0016291 "craniosynostosis, Herrmann-Opitz type" 1 4 0 0 0 0 -MONDO:0015195 "atresia of urethra" 1 5 0 0 0 0 +MONDO:0015195 "atresia of urethra" 1 4 0 0 0 0 http://identifiers.org/hgnc/3097 "DYSF" 0 0 0 0 0 0 GO:1900544 "positive regulation of purine nucleotide metabolic process" 1 0 0 0 0 1 GO:0033145 "positive regulation of intracellular steroid hormone receptor signaling pathway" 1 0 0 0 0 1 -MONDO:0001152 "amnestic disorder" 1 6 0 0 0 0 +MONDO:0001152 "amnestic disorder" 1 5 0 0 0 0 NBO:0002603 "regulation of sexual activity"@en 1 0 0 0 0 1 MONDO:0000285 "obsolete lujo hemorrhagic fever" 0 0 0 0 0 0 UBERON:0003665 "post-anal tail muscle" 0 0 0 0 0 1 -MONDO:0002177 "hyperinsulinism" 1 8 0 0 0 1 +MONDO:0002177 "hyperinsulinism" 1 7 0 0 0 1 MONDO:0016349 "congenital hydrocephalus" 1 13 0 0 0 1 CHEBI:23906 "monoatomic cation" 0 0 0 0 0 0 -MONDO:0017356 "inborn disorder of ornithine metabolism" 1 4 0 0 0 1 +MONDO:0017356 "inborn disorder of ornithine metabolism" 1 3 0 0 0 1 MONDO:0004380 "dendritic cell sarcoma" 1 4 0 0 0 1 MONDO:0009908 "pterin-4 alpha-carbinolamine dehydratase 1 deficiency" 1 8 0 0 0 0 UBERON:0036553 "wall of synovial tendon sheath" 0 0 0 0 0 1 @@ -30183,7 +30204,6 @@ GO:0009124 "nucleoside monophosphate biosynthetic process" 1 0 0 0 0 0 HP:0030680 "Abnormality of cardiovascular system morphology" 1 1 0 0 0 0 MONDO:0033926 "prepubertal anorexia nervosa" 0 1 0 0 0 0 MONDO:0012531 "xeroderma pigmentosum group B" 1 11 0 0 0 1 -MONDO:0014320 "optic atrophy-intellectual disability syndrome" 1 4 0 0 0 0 NCBITaxon:6334 "Trichinella spiralis" 0 1 0 0 0 0 MONDO:0006315 "obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm" 0 2 0 0 0 0 UBERON:0003659 "pedal digit muscle" 0 0 0 0 0 1 @@ -30215,14 +30235,14 @@ GO:0006955 "immune response" 1 0 0 0 0 0 MONDO:0018918 "carcinoma of gallbladder and extrahepatic biliary tract" 1 3 0 0 0 0 MONDO:0044808 "obsolete early onset primary dystonia" 0 0 0 0 0 0 UBERON:0005185 "renal medulla collecting duct" 0 0 0 0 0 1 -MONDO:0014657 "primary ciliary dyskinesia 32" 1 5 0 0 0 1 +MONDO:0014657 "primary ciliary dyskinesia 32" 1 4 0 0 0 1 MONDO:0004008 "flat ductal epithelial atypia" 1 3 0 0 0 0 -MONDO:0010863 "type 1 diabetes mellitus 5" 1 5 0 0 0 1 +MONDO:0010863 "type 1 diabetes mellitus 5" 1 4 0 0 0 1 MONDO:0012366 "gallbladder disease 3" 0 3 0 0 0 0 GO:0030857 "negative regulation of epithelial cell differentiation" 1 0 0 0 0 1 CHEBI:43474 "hydrogenphosphate" 1 0 0 0 0 0 MONDO:0013467 "immunodeficiency due to ficolin3 deficiency" 0 5 0 0 0 0 -MONDO:0005728 "diaphragm disorder" 1 6 0 0 0 1 +MONDO:0005728 "diaphragm disorder" 1 5 0 0 0 1 MONDO:0003257 "posterior pituitary gland neoplasm" 1 3 0 0 0 1 PATO:0002478 "transversely striated" 1 0 0 0 0 0 http://identifiers.org/hgnc/30829 "TUBB2B" 0 0 0 0 0 0 @@ -30241,7 +30261,7 @@ http://identifiers.org/hgnc/17761 "TREM2" 0 0 0 0 0 0 HP:0032309 "Abnormal granulocyte count" 1 0 0 0 0 0 NCBITaxon:2547934 "Blastocystidae" 0 1 0 0 0 0 UBERON:2005260 "fenestrated capillary" 0 0 0 0 0 0 -MONDO:0010864 "type 1 diabetes mellitus 7" 1 5 0 0 0 0 +MONDO:0010864 "type 1 diabetes mellitus 7" 1 4 0 0 0 0 MONDO:0025556 "isocyanate induced asthma" 0 4 0 0 0 1 MONDO:0011747 "dyslexia, susceptibility to, 5" 0 1 0 0 0 0 MONDO:0000333 "early congenital syphilis" 1 4 0 0 0 0 @@ -30261,14 +30281,14 @@ UBERON:0009581 "midbrain mantle layer" 0 0 0 0 0 1 MONDO:0014718 "developmental and epileptic encephalopathy, 34" 1 3 0 0 0 1 MONDO:0005551 "eye allergy" 1 1 0 0 0 1 GO:0071953 "elastic fiber" 1 0 0 0 0 0 -MONDO:0010862 "type 1 diabetes mellitus 4" 1 5 0 0 0 0 +MONDO:0010862 "type 1 diabetes mellitus 4" 1 4 0 0 0 0 MONDO:0008119 "spinocerebellar ataxia type 1" 1 8 0 0 0 1 CHEBI:18407 "hydrogen cyanide" 1 0 0 0 0 0 UBERON:0005844 "spinal cord segment" 0 0 0 0 0 0 MONDO:0021446 "benign neoplasm of epiglottis" 1 3 0 0 0 1 GO:0030594 "neurotransmitter receptor activity" 1 0 0 0 0 0 MONDO:0015794 "antenatal multiminicore disease with arthrogryposis multiplex congenita" 0 4 0 0 0 0 -MONDO:0005546 "fibromyalgia" 1 11 0 0 0 0 +MONDO:0005546 "fibromyalgia" 1 10 0 0 0 0 MONDO:0008224 "hyperkalemic periodic paralysis" 1 10 0 0 0 1 GO:0002343 "peripheral B cell selection" 1 0 0 0 0 0 MONDO:0006751 "Erysipelothrix infectious disease" 1 4 0 0 0 1 @@ -30278,18 +30298,18 @@ UBERON:0014780 "palatine aponeurosis" 0 0 0 0 0 1 PATO:0001306 "decreased temperature" 1 0 0 0 0 1 MONDO:0017452 "non-syndromic brachydactyly of toes" 1 4 0 0 0 1 MONDO:0008948 "cerebrotendinous xanthomatosis" 1 9 0 0 0 0 -MONDO:0005961 "sinusitis" 1 11 0 0 0 1 +MONDO:0005961 "sinusitis" 1 8 0 0 0 1 NCBITaxon:474019 "Sarcoptinae" 0 1 0 0 0 0 UBERON:0003080 "anterior neural tube" 0 0 0 0 0 0 MONDO:0005574 "tauopathy" 1 4 0 0 0 0 GO:0071941 "nitrogen cycle metabolic process" 1 0 0 0 0 0 GO:0071326 "cellular response to monosaccharide stimulus" 1 0 0 0 0 0 -MONDO:0021084 "vision disorder" 1 4 0 0 0 1 +MONDO:0021084 "vision disorder" 1 5 0 0 0 1 http://identifiers.org/hgnc/2736 "DDX11" 0 0 0 0 0 0 MONDO:0003080 "obsolete indolent systemic mastocytosis" 0 0 0 0 0 0 MONDO:0009740 "neurofaciodigitorenal syndrome" 1 7 0 0 0 0 MONDO:0014824 "craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome" 0 3 0 0 0 0 -MONDO:0012447 "synpolydactyly type 3" 0 7 0 0 0 0 +MONDO:0012447 "synpolydactyly type 3" 0 5 0 0 0 0 UBERON:0005687 "orbitosphenoid cartilage element" 0 0 0 0 0 1 UBERON:0004681 "vestibular system" 0 0 0 0 0 1 http://identifiers.org/hgnc/7481 "MT-TF" 0 0 0 0 0 0 @@ -30300,11 +30320,11 @@ GO:0098651 "basement membrane collagen trimer" 1 0 0 0 0 1 UBERON:0034969 "epithelial layer of duct" 0 0 0 0 0 1 GO:0008119 "thiopurine S-methyltransferase activity" 1 0 0 0 0 0 MONDO:0007587 "external auditory canal atresia-vertical talus-hypertelorism syndrome" 0 5 0 0 0 0 -MONDO:0015845 "uterine cervical aplasia and agenesis" 0 2 0 0 0 0 +MONDO:0015845 "uterine cervical aplasia and agenesis" 0 1 0 0 0 0 MONDO:0030064 "episodic ataxia, type 9" 0 1 0 0 0 0 -MONDO:0010861 "type 1 diabetes mellitus 3" 1 5 0 0 0 0 +MONDO:0010861 "type 1 diabetes mellitus 3" 1 4 0 0 0 0 ENVO:01001366 "aerosolised particle formation process"@en 1 0 0 0 0 0 -MONDO:0020704 "inherited rippling muscle disease" 1 6 0 0 0 1 +MONDO:0020704 "inherited rippling muscle disease" 1 5 0 0 0 1 UBERON:0011585 "cell condensation" 0 0 0 0 0 0 UBERON:0010047 "oral gland" 0 0 0 0 0 1 MONDO:0001895 "acute retrobulbar neuritis" 1 4 0 0 0 1 @@ -30313,7 +30333,7 @@ MONDO:0017473 "patella aplasia/hypoplasia, bilateral" 0 2 0 0 0 0 MONDO:0002634 "liposarcoma of bone" 1 3 0 0 0 1 MONDO:0006474 "transitional cell carcinoma" 1 7 0 0 0 1 http://identifiers.org/hgnc/799 "ATP1A1" 0 0 0 0 0 0 -MONDO:0019883 "distal trisomy 9q" 1 3 0 0 0 0 +MONDO:0019883 "distal trisomy 9q" 1 2 0 0 0 0 MONDO:0022849 "congenital stenosis of cervical medullary canal" 0 1 0 0 0 0 MONDO:0007825 "incisors, rotation of upper central" 0 1 0 0 0 0 CL:0002232 "epithelial cell of prostatic duct" 1 1 0 0 0 1 @@ -30322,7 +30342,7 @@ MONDO:0013068 "age-related hearing impairment 2" 0 3 0 0 0 0 MONDO:0011828 "intellectual disability, autosomal recessive 2" 1 3 0 0 0 1 MONDO:0014875 "hyperaldosteronism, familial, type IV" 0 2 0 0 0 0 MONDO:0016680 "high grade astrocytic tumor" 1 3 0 0 0 0 -MONDO:0000390 "vitelliform macular dystrophy" 1 14 0 0 0 0 +MONDO:0000390 "vitelliform macular dystrophy" 1 13 0 0 0 0 MONDO:0013256 "chromosome 15q24 deletion syndrome" 1 9 0 0 0 1 MONDO:0030056 "Fanconi renotubular syndrome 5" 0 1 0 0 0 0 MONDO:0032774 "cerebellar, ocular, craniofacial, and genital syndrome" 0 1 0 0 0 0 @@ -30333,7 +30353,7 @@ MONDO:0007120 "aniridia-absent patella syndrome" 1 6 0 0 0 0 MONDO:0008632 "urticaria, aquagenic" 1 6 0 0 0 1 MONDO:0017462 "congenital pseudoarthrosis of the tibia" 1 5 0 0 0 0 MONDO:0016594 "superficial siderosis" 1 3 0 0 0 0 -MONDO:0013446 "Leber congenital amaurosis 6" 1 6 0 0 0 1 +MONDO:0013446 "Leber congenital amaurosis 6" 1 5 0 0 0 1 CHEBI:46787 "solvent" 1 0 0 0 0 0 MONDO:0007364 "arthrogryposis, distal, type 2E" 0 3 0 0 0 0 GO:0045580 "regulation of T cell differentiation" 1 0 0 0 0 1 @@ -30384,9 +30404,9 @@ MONDO:0030500 "Loeys-Dietz syndrome 6" 0 1 0 0 0 0 MONDO:0018417 "autosomal recessive spastic paraplegia type 60" 0 3 0 0 0 0 MONDO:0032829 "neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities" 0 1 0 0 0 0 GO:0061615 "glycolytic process through fructose-6-phosphate" 1 0 0 0 0 1 -MONDO:0004901 "lingual-facial-buccal dyskinesia" 1 6 0 0 0 0 +MONDO:0004901 "lingual-facial-buccal dyskinesia" 1 5 0 0 0 0 ECTO:0000231 "exposure to chemical" 1 0 0 0 0 1 -MONDO:0006906 "pigmented villonodular synovitis" 1 13 0 0 0 0 +MONDO:0006906 "pigmented villonodular synovitis" 1 12 0 0 0 0 MONDO:0600003 "bacterial hemorrhagic fever" 1 0 0 0 0 1 UBERON:0002165 "endocardium" 0 0 0 0 0 0 MONDO:0030476 "Galloway-Mowat syndrome 10" 0 1 0 0 0 0 @@ -30405,7 +30425,7 @@ MONDO:0002054 "obsolete breast cancer" 0 0 0 0 0 0 UBERON:0010959 "craniocervical muscle" 0 0 0 0 0 1 HP:0002350 "Cerebellar cyst" 0 1 0 0 0 0 http://identifiers.org/hgnc/10260 "RORC" 0 0 0 0 0 0 -MONDO:0001972 "Brucella melitensis brucellosis" 1 5 0 0 0 0 +MONDO:0001972 "Brucella melitensis brucellosis" 1 4 0 0 0 0 MONDO:0020011 "obsolete rare headache disorder" 1 1 0 0 0 0 GO:0009106 "lipoate metabolic process" 1 0 0 0 0 0 MONDO:0000431 "obsolete mantle cell lymphoma" 0 0 0 0 0 0 @@ -30428,7 +30448,7 @@ MONDO:0032661 "neurodevelopmental disorder with impaired intellectual developmen MONDO:0021629 "uterine ligament neoplasm" 1 2 0 0 0 1 MONDO:0006900 "perinephritis" 1 6 0 0 0 1 MONDO:0016290 "Hernández-Aguirre Negrete syndrome" 1 5 0 0 0 0 -MONDO:0017638 "manganese poisoning" 1 7 0 0 0 1 +MONDO:0017638 "manganese poisoning" 1 6 0 0 0 1 CL:0000171 "pancreatic A cell" 1 2 0 0 0 1 MONDO:0012501 "obsolete mutagen sensitivity" 0 2 0 0 0 0 MONDO:0010555 "X-linked chondrodysplasia punctata 1" 1 7 0 0 0 1 @@ -30448,7 +30468,7 @@ MONDO:0037743 "mediastinal soft tissue cancer" 1 2 0 0 0 1 MONDO:0022884 "craniofacial dysostosis arthrogryposis progeroid appearence" 0 1 0 0 0 0 MONDO:0011488 "microcephaly 3, primary, autosomal recessive" 1 5 0 0 0 1 MONDO:0007400 "Jackson-Weiss syndrome" 1 10 0 0 0 0 -MONDO:0010439 "cardiomyopathy, fatal fetal, due to myocardial calcification" 0 4 0 0 0 0 +MONDO:0010439 "cardiomyopathy, fatal fetal, due to myocardial calcification" 0 5 0 0 0 0 MONDO:0002146 "hypogonadism" 1 8 0 0 0 0 MONDO:0004309 "sarcomatosis" 1 4 0 0 0 0 MONDO:0000752 "obsolete myelomeningocele" 0 0 0 0 0 0 @@ -30459,7 +30479,7 @@ MONDO:0018862 "obsolete cat-scratch disease" 0 0 0 0 0 0 MONDO:0018412 "obsolete rare female infertility due to adrenal disorder of genetic origin" 0 2 0 0 0 0 UBERON:0006800 "anatomical line" 0 0 0 0 0 0 MONDO:0014633 "myoclonic-atonic epilepsy" 0 3 0 0 0 0 -MONDO:0001564 "binocular vision disease" 1 5 0 0 0 0 +MONDO:0001564 "binocular vision disease" 1 4 0 0 0 0 MONDO:0009435 "hypospadias-intellectual disability, Goldblatt type syndrome" 1 6 0 0 0 0 UBERON:0001769 "iris" 0 0 0 0 0 0 http://identifiers.org/hgnc/8940 "PHYH" 0 0 0 0 0 0 @@ -30473,7 +30493,7 @@ GO:0042633 "hair cycle" 1 0 0 0 0 0 UBERON:0001894 "diencephalon" 0 0 0 0 0 0 MONDO:0009296 "glycoprotein storage disease" 0 5 0 0 0 0 http://identifiers.org/hgnc/26401 "MARVELD2" 0 0 0 0 0 0 -MONDO:0013449 "Leber congenital amaurosis 7" 1 6 0 0 0 1 +MONDO:0013449 "Leber congenital amaurosis 7" 1 5 0 0 0 1 MONDO:0010572 "occipital horn syndrome" 1 7 0 0 0 0 MONDO:0016325 "obsolete glycogen storage disease with hypertrophic cardiomyopathy" 0 3 0 0 0 0 GO:0002893 "negative regulation of type II hypersensitivity" 1 0 0 0 0 1 @@ -30498,12 +30518,12 @@ MONDO:0016235 "obsolete complex vascular malformation with associated anomalies" HP:0011357 "obsolete Abnormality of hair density" 0 0 0 0 0 0 CL:0011101 "chorionic trophoblast cell" 1 0 0 0 0 1 MONDO:0008743 "Stimmler syndrome" 1 6 0 0 0 0 -MONDO:0012170 "autosomal recessive nonsyndromic hearing loss 36" 1 4 0 0 0 1 -MONDO:0008764 "Leber congenital amaurosis 1" 1 5 0 0 0 1 +MONDO:0012170 "autosomal recessive nonsyndromic hearing loss 36" 1 3 0 0 0 1 +MONDO:0008764 "Leber congenital amaurosis 1" 1 4 0 0 0 1 UBERON:0036266 "pars interarticularis of vertebra" 0 0 0 0 0 0 -MONDO:0008765 "Leber congenital amaurosis 2" 1 6 0 0 0 1 +MONDO:0008765 "Leber congenital amaurosis 2" 1 5 0 0 0 1 http://identifiers.org/hgnc/10591 "SCN4A" 0 0 0 0 0 0 -MONDO:0001488 "anterior corneal pigmentation" 0 5 0 0 0 0 +MONDO:0001488 "anterior corneal pigmentation" 0 4 0 0 0 0 MONDO:0012559 "primary immunodeficiency syndrome due to p14 deficiency" 1 7 0 0 0 0 MONDO:0003343 "retinal hemangioblastoma" 1 3 0 0 0 1 MONDO:0001870 "acute poststreptococcal glomerulonephritis" 1 4 0 0 0 0 @@ -30540,7 +30560,7 @@ MONDO:0008973 "chondrodysplasia punctata, Toriello type" 1 5 0 0 0 0 MONDO:0004502 "parapharyngeal meningioma" 0 3 0 0 0 0 MONDO:0001626 "traumatic glaucoma" 0 4 0 0 0 0 http://identifiers.org/hgnc/10592 "SCN4B" 0 0 0 0 0 0 -MONDO:0020355 "coloboma of eye lens" 0 3 0 0 0 0 +MONDO:0020355 "coloboma of eye lens" 0 2 0 0 0 0 MONDO:0015106 "obsolete rare urogenital disease" 0 2 0 0 0 0 UBERON:0003529 "respiratory system lymphatic vessel endothelium" 0 0 0 0 0 1 MONDO:0002883 "intestinal neuroendocrine neoplasm" 1 3 0 0 0 1 @@ -30586,9 +30606,9 @@ MONDO:0003933 "chest wall bone cancer" 1 3 0 0 0 1 SO:1000036 "inversion" 1 0 0 0 0 0 CHEBI:37022 "amino-acid anion" 0 0 0 0 0 0 MONDO:0005318 "canker sore" 1 6 0 0 0 0 -MONDO:0010643 "acute leukemia" 1 12 0 0 0 1 +MONDO:0010643 "acute leukemia" 1 10 0 0 0 1 HP:0005339 "Abnormality of complement system" 1 1 0 0 0 0 -MONDO:0012961 "type 1 diabetes mellitus 23" 1 5 0 0 0 0 +MONDO:0012961 "type 1 diabetes mellitus 23" 1 4 0 0 0 0 MONDO:0020578 "obsolete vitamin D deficiency" 1 0 0 0 0 0 http://identifiers.org/hgnc/26144 "PALB2" 0 0 0 0 0 0 MONDO:0016194 "qualitative or quantitative defects of nebulin" 0 1 0 0 0 0 @@ -30597,16 +30617,16 @@ GO:0010877 "lipid transport involved in lipid storage" 1 0 0 0 0 1 MONDO:0003451 "obsolete laryngeal neuroendocrine tumor" 0 0 0 0 0 0 MONDO:0015008 "amelogenesis imperfecta, type 1J" 0 1 0 0 0 0 UBERON:0018227 "pulmonary lymphatic vessel" 0 0 0 0 0 1 -MONDO:0006292 "malignant mesothelioma" 1 19 0 0 0 1 +MONDO:0006292 "malignant mesothelioma" 1 18 0 0 0 1 MONDO:0006159 "colorectal gastrointestinal stromal tumor" 1 3 0 0 0 0 MONDO:0001628 "tinea unguium" 1 12 0 0 0 1 MONDO:0021291 "carcinoma in situ of fundus of stomach" 1 3 0 0 0 1 MONDO:0015185 "intestinal polyposis syndrome" 0 7 0 0 0 0 MONDO:0700022 "chromosome 15 disorder" 1 0 0 0 0 1 GO:0032768 "regulation of monooxygenase activity" 1 0 0 0 0 1 -MONDO:0010030 "Sjogren syndrome" 1 12 0 0 0 0 +MONDO:0010030 "Sjogren syndrome" 1 10 0 0 0 0 MONDO:0019089 "obsolete adult acute respiratory distress syndrome" 0 0 0 0 0 0 -MONDO:0003082 "filamentary keratitis" 0 5 0 0 0 0 +MONDO:0003082 "filamentary keratitis" 0 4 0 0 0 0 ECTO:0000524 "exposure to mycotoxin" 1 0 0 0 0 1 MONDO:0012885 "SRD5A3-CDG" 1 8 0 0 0 0 http://identifiers.org/hgnc/21144 "DSE" 0 0 0 0 0 0 @@ -30619,7 +30639,7 @@ GO:0051056 "regulation of small GTPase mediated signal transduction" 1 0 0 0 0 1 UBERON:0004716 "conceptus" 0 0 0 0 0 0 NCBITaxon:41196 "Neolepidoptera" 0 1 0 0 0 0 MONDO:0001956 "capillary leak syndrome" 1 10 0 0 0 0 -MONDO:0003785 "leukopenia" 1 8 0 0 0 0 +MONDO:0003785 "leukopenia" 1 7 0 0 0 0 NCBITaxon:33342 "Paraneoptera" 0 1 0 0 0 0 MONDO:0015944 "axial mesodermal dysplasia spectrum" 1 6 0 0 0 0 MONDO:0025095 "malaria, avian" 1 2 0 0 0 0 @@ -30642,7 +30662,7 @@ MONDO:0600014 "alveolar capillary dysplasia without misalignment of pulmonary ve MONDO:0008453 "adult-onset proximal spinal muscular atrophy, autosomal dominant" 0 5 0 0 0 0 ECTO:3000001 "exposure to virus" 1 0 0 0 0 1 http://identifiers.org/hgnc/10257 "ROR2" 0 0 0 0 0 0 -MONDO:0003648 "tympanic membrane disorder" 1 6 0 0 0 1 +MONDO:0003648 "tympanic membrane disorder" 1 4 0 0 0 1 MONDO:0020396 "anomaly of the tricuspid valve chordae" 1 2 0 0 0 0 CHEBI:50511 "bipyridines" 1 0 0 0 0 0 MONDO:0017624 "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis" 1 4 0 0 0 0 @@ -30652,7 +30672,7 @@ GO:0019747 "regulation of isoprenoid metabolic process" 1 0 0 0 0 1 NCBITaxon:6946 "Acariformes" 0 1 0 0 0 0 MONDO:0032641 "mirror movements 4" 0 1 0 0 0 0 CHEBI:25154 "manganese molecular entity" 0 0 0 0 0 0 -MONDO:0017843 "congenital pulmonary sequestration" 1 7 0 0 0 0 +MONDO:0017843 "congenital pulmonary sequestration" 1 6 0 0 0 0 MONDO:0017023 "obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease" 0 2 0 0 0 0 MONDO:0019018 "Tako-tsubo cardiomyopathy" 1 10 0 0 0 0 http://identifiers.org/hgnc/6024 "IL7R" 0 0 0 0 0 0 @@ -30685,14 +30705,14 @@ MONDO:0016079 "sporadic Creutzfeldt-Jakob disease" 1 7 0 0 0 0 UBERON:0008188 "tendon of biceps brachii" 0 0 0 0 0 1 MONDO:0024474 "intraepithelial neoplasia" 1 1 0 0 0 0 UBERON:0001957 "submucosa of bronchus" 0 0 0 0 0 1 -MONDO:0013130 "isolated microphthalmia 4" 1 6 0 0 0 1 +MONDO:0013130 "isolated microphthalmia 4" 1 5 0 0 0 1 MONDO:0700014 "chromosome 7 disorder" 1 0 0 0 0 1 CHEBI:52625 "inorganic hydroxy compound" 0 0 0 0 0 0 MONDO:0024945 "hepatitis, non-human animal" 1 1 0 0 0 0 PATO:0010001 "disconnected" 1 0 0 0 0 0 MONDO:0025505 "mink viral enteritis" 1 2 0 0 0 0 GO:0045926 "negative regulation of growth" 1 0 0 0 0 1 -MONDO:0001220 "hypoparathyroidism" 1 11 0 0 0 0 +MONDO:0001220 "hypoparathyroidism" 1 10 0 0 0 0 UBERON:0016565 "cerebral blood vessel" 0 0 0 0 0 1 MONDO:0007396 "dysostosis, Stanescu type" 1 7 0 0 0 0 MONDO:0002848 "skeletal muscle neoplasm" 1 5 0 0 0 1 @@ -30722,7 +30742,7 @@ MONDO:0018987 "granulomatous mastitis" 1 6 0 0 0 0 MONDO:0019982 "bilateral multicystic dysplastic kidney" 1 5 0 0 0 0 MONDO:0005304 "biliary tract neoplasm" 1 8 0 0 0 1 UBERON:0009611 "midbrain neural plate" 0 0 0 0 0 0 -MONDO:0006875 "ocular hypertension" 1 9 0 0 0 0 +MONDO:0006875 "ocular hypertension" 1 8 0 0 0 0 CL:0009044 "lymphocyte of small intestine lamina propria" 1 0 0 0 0 1 MONDO:0000392 "obsolete fetal alcohol syndrome" 0 0 0 0 0 0 MONDO:0006086 "angiomyxoma" 1 8 0 0 0 0 @@ -30742,15 +30762,15 @@ http://identifiers.org/hgnc/21143 "ZBTB24" 0 0 0 0 0 0 MONDO:0100407 "acute myeloid leukemia, t(11;15)(p15;q35)" 1 2 0 0 0 0 GO:0004757 "sepiapterin reductase activity" 1 0 0 0 0 0 MONDO:0008179 "paroxysmal extreme pain disorder" 1 9 0 0 0 0 -MONDO:0004842 "stomatitis" 1 10 0 0 0 1 -MONDO:0006873 "nutritional deficiency disease" 1 10 0 0 0 0 +MONDO:0004842 "stomatitis" 1 9 0 0 0 1 +MONDO:0006873 "nutritional deficiency disease" 1 11 0 0 0 0 MONDO:0011656 "paget disease of bone 4" 0 3 0 0 0 0 UBERON:0000039 "follicular antrum" 0 0 0 0 0 1 MONDO:0014309 "obesity due to CEP19 deficiency" 0 4 0 0 0 1 FOODON:00001173 "plant seed food product"@en 0 0 0 0 0 1 HP:0003249 "Genital ulcers" 0 1 0 0 0 0 MONDO:0010937 "isoproterenol-mediated vasodilatation" 0 2 0 0 0 0 -MONDO:0002459 "type IV hypersensitivity disease" 1 4 0 0 0 1 +MONDO:0002459 "type IV hypersensitivity disease" 1 3 0 0 0 1 MONDO:0012441 "migraine with or without aura, susceptibility to, 11" 0 1 0 0 0 0 CL:0000438 "luteinizing hormone secreting cell" 1 0 0 0 0 1 PATO:0001404 "nucleate quality" 1 0 0 0 0 0 @@ -30805,7 +30825,7 @@ MONDO:0009818 "autosomal recessive osteopetrosis 3" 1 10 0 0 0 1 GO:0033578 "protein glycosylation in Golgi" 1 0 0 0 0 1 MONDO:0021299 "carcinoma in situ of extrahepatic bile duct" 1 3 0 0 0 1 MONDO:0006217 "gallbladder adenosquamous carcinoma" 1 5 0 0 0 1 -MONDO:0012988 "hypogonadotropic hypogonadism 6 with or without anosmia" 1 6 0 0 0 1 +MONDO:0012988 "hypogonadotropic hypogonadism 6 with or without anosmia" 1 5 0 0 0 1 MONDO:0054637 "Noonan syndrome-like disorder with loose anagen hair 1" 0 1 0 0 0 0 MONDO:0017290 "familial intrahepatic cholestasis" 1 6 0 0 0 1 http://identifiers.org/hgnc/7490 "MT-TL1" 0 0 0 0 0 0 @@ -30832,13 +30852,13 @@ GO:0060606 "tube closure" 1 0 0 0 0 0 UBERON:0004337 "distal phalanx of manual digit 1" 0 0 0 0 0 1 MONDO:0020267 "obsolete genetic keratinization disorder associated with ocular features" 0 2 0 0 0 0 http://identifiers.org/hgnc/26114 "EDC3" 0 0 0 0 0 0 -MONDO:0018221 "immune hydrops fetalis" 1 6 0 0 0 0 +MONDO:0018221 "immune hydrops fetalis" 1 5 0 0 0 0 CHEBI:59740 "nucleophilic reagent" 1 0 0 0 0 0 GO:0051341 "regulation of oxidoreductase activity" 1 0 0 0 0 1 MONDO:0009413 "immunodeficiency, common variable, 2" 0 3 0 0 0 0 MONDO:0016295 "neuronal ceroid lipofuscinosis" 1 9 0 0 0 0 MONDO:0023170 "focal or multifocal malformations in neuronal migration" 0 1 0 0 0 0 -MONDO:0013471 "autosomal recessive nonsyndromic hearing loss 61" 1 4 0 0 0 1 +MONDO:0013471 "autosomal recessive nonsyndromic hearing loss 61" 1 3 0 0 0 1 NCBITaxon:188543 "Demodicidae" 0 1 0 0 0 0 MONDO:0012476 "hereditary spastic paraplegia 30" 1 7 0 0 0 1 MONDO:0009568 "mast syndrome" 1 7 0 0 0 0 @@ -30847,7 +30867,7 @@ http://identifiers.org/hgnc/3148 "TYMP" 0 0 0 0 0 0 MONDO:0011503 "cortisone reductase deficiency 1" 1 5 0 0 0 1 MONDO:0004959 "plasma cell neoplasm" 1 9 0 0 0 1 UBERON:0002376 "cranial muscle" 0 0 0 0 0 1 -MONDO:0016837 "16p13.11 microduplication syndrome" 1 6 0 0 0 1 +MONDO:0016837 "16p13.11 microduplication syndrome" 1 5 0 0 0 1 MONDO:0017702 "obsolete glycerol kinase deficiency" 0 0 0 0 0 0 MONDO:0007494 "obsolete episodic kinesigenic dyskinesia 1" 0 0 0 0 0 0 MONDO:0012749 "mesomelic dysplasia, camera type" 0 3 0 0 0 0 @@ -30893,7 +30913,7 @@ MONDO:0042724 "macrocephaly, intellectual disability, short stature, spastic par MONDO:0017293 "obsolete small cell carcinoma of the bladder" 0 0 0 0 0 0 http://identifiers.org/hgnc/9399 "PRKCD" 0 0 0 0 0 0 CHR:9606-chr7p "7p (Human)" 0 0 0 0 0 0 -MONDO:0011233 "Axenfeld-Rieger syndrome type 3" 1 8 0 0 0 1 +MONDO:0011233 "Axenfeld-Rieger syndrome type 3" 1 7 0 0 0 1 CHR:9606-chr16p13.2 "16p13.2 (Human)" 0 0 0 0 0 0 MONDO:0011549 "hypotrichosis 1" 1 4 0 0 0 1 http://identifiers.org/hgnc/1512 "CASQ1" 0 0 0 0 0 0 @@ -30933,7 +30953,7 @@ GO:0045579 "positive regulation of B cell differentiation" 1 0 0 0 0 1 GO:0043067 "regulation of programmed cell death" 1 0 0 0 0 1 GO:0007010 "cytoskeleton organization" 1 0 0 0 0 0 MONDO:0004675 "mitochondrial encephalomyopathy" 1 5 0 0 0 0 -MONDO:0001938 "vulvar dystrophy" 1 7 0 0 0 0 +MONDO:0001938 "vulvar dystrophy" 1 6 0 0 0 0 SO:0000342 "site_specific_recombination_target_region" 1 0 0 0 0 0 UBERON:0005257 "manual digit mesenchyme" 0 0 0 0 0 1 MONDO:0007684 "obsolete granulomatous disease, chronic, autosomal dominant type" 0 0 0 0 0 0 @@ -30941,7 +30961,7 @@ MONDO:0012315 "distal 10q deletion syndrome" 1 9 0 0 0 0 MONDO:0010717 "pyruvate dehydrogenase E1-alpha deficiency" 1 7 0 0 0 0 CL:1000283 "smooth muscle fiber of transverse colon" 1 1 0 0 0 1 ENVO:01001346 "erosion"@en 1 0 0 0 0 0 -MONDO:0005941 "retroperitoneal cancer" 1 9 0 0 0 1 +MONDO:0005941 "retroperitoneal cancer" 1 7 0 0 0 1 MONDO:0003902 "brain stem hemangioblastoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/67 "ABCD3" 0 0 0 0 0 0 GO:0003015 "heart process" 1 0 0 0 0 0 @@ -30949,11 +30969,11 @@ UBERON:0002336 "corpus callosum" 0 0 0 0 0 0 http://identifiers.org/hgnc/1301 "CFAP298" 0 0 0 0 0 0 MONDO:0007938 "46,XY sex reversal 4" 1 6 0 0 0 0 MONDO:0020542 "malignant Sertoli-Leydig cell tumor of ovary" 1 6 0 0 0 1 -MONDO:0009484 "primary ciliary dyskinesia 1" 1 4 0 0 0 1 +MONDO:0009484 "primary ciliary dyskinesia 1" 1 3 0 0 0 1 http://identifiers.org/hgnc/17020 "IRAK3" 0 0 0 0 0 0 MONDO:0001621 "tick-borne relapsing fever" 1 6 0 0 0 1 MONDO:0002359 "periosteal chondroma" 1 4 0 0 0 1 -MONDO:0006573 "lipodystrophy" 1 10 0 0 0 1 +MONDO:0006573 "lipodystrophy" 1 9 0 0 0 1 MONDO:0018495 "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome" 1 3 0 0 0 0 NCBITaxon:12066 "Coxsackievirus" 0 1 0 0 0 0 MONDO:0005808 "inclusion conjunctivitis" 1 10 0 0 0 0 @@ -30966,10 +30986,10 @@ MONDO:0100432 "FNIP1-associated syndrome" 1 0 0 0 0 1 GO:0007165 "signal transduction" 1 0 0 0 0 0 CHEBI:15966 "D-glutamic acid" 1 0 0 0 0 0 MONDO:0000621 "immune system cancer" 1 1 0 0 0 1 -MONDO:0019470 "aggressive NK-cell leukemia" 1 12 0 0 0 1 +MONDO:0019470 "aggressive NK-cell leukemia" 1 10 0 0 0 1 ECTO:4000027 "exposure to freezing water" 1 0 0 0 0 0 MONDO:0023035 "Eagle syndrome" 1 4 0 0 0 0 -MONDO:0015926 "pneumoconiosis" 1 10 0 0 0 0 +MONDO:0015926 "pneumoconiosis" 1 9 0 0 0 0 ENVO:01000293 "ice mass" 1 0 0 0 0 1 http://identifiers.org/hgnc/4440 "GP1BB" 0 0 0 0 0 0 MONDO:0022060 "calloso-genital dysplasia" 0 3 0 0 0 0 @@ -31004,7 +31024,7 @@ GO:0043574 "peroxisomal transport" 1 0 0 0 0 0 MONDO:0006220 "gallbladder squamous cell carcinoma" 1 4 0 0 0 1 GO:0002225 "positive regulation of antimicrobial peptide production" 1 0 0 0 0 1 http://identifiers.org/hgnc/16501 "PDLIM4" 0 0 0 0 0 0 -MONDO:0005515 "oral cavity cancer" 1 15 0 0 0 1 +MONDO:0005515 "oral cavity cancer" 1 11 0 0 0 1 MONDO:0007236 "branchiootorenal syndrome 1" 0 4 0 0 0 0 MONDO:0008914 "cardioauditory syndrome of Sanchez Cascos" 0 4 0 0 0 0 http://identifiers.org/hgnc/4329 "GLRB" 0 0 0 0 0 0 @@ -31012,14 +31032,14 @@ GO:0055078 "sodium ion homeostasis" 1 0 0 0 0 0 UBERON:0005457 "left thymus lobe" 0 0 0 0 0 1 MONDO:0003260 "adult cerebellar neoplasm" 1 3 0 0 0 1 UBERON:0003845 "lower eyelid epithelium" 0 0 0 0 0 1 -MONDO:0002268 "dyspepsia" 1 6 0 0 0 0 +MONDO:0002268 "dyspepsia" 1 4 0 0 0 0 MONDO:0009851 "peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain" 0 3 0 0 0 0 UBERON:0009674 "accessory XI nerve spinal component" 0 0 0 0 0 0 MONDO:0001665 "oculoglandular tularemia" 1 5 0 0 0 0 MONDO:0008568 "thyroid hormone plasma membrane transport defect" 0 4 0 0 0 0 UBERON:0001177 "left hepatic duct" 0 0 0 0 0 1 -MONDO:0001063 "cardia cancer" 1 5 0 0 0 1 -MONDO:0006834 "lip cancer" 1 12 0 0 0 1 +MONDO:0001063 "cardia cancer" 1 4 0 0 0 1 +MONDO:0006834 "lip cancer" 1 11 0 0 0 1 MONDO:0018720 "common cystic lymphatic malformation" 0 1 0 0 0 0 GO:0106118 "regulation of sterol biosynthetic process" 1 0 0 0 0 1 UBERON:0002094 "interventricular septum" 0 0 0 0 0 1 @@ -31086,10 +31106,10 @@ MONDO:0002254 "syndromic disease" 1 6 0 0 0 1 MONDO:0011412 "familial encephalopathy with neuroserpin inclusion bodies" 0 9 0 0 0 0 MONDO:0020164 "epicanthal fold" 0 2 0 0 0 1 UBERON:0008823 "neural tube derived brain" 0 0 0 0 0 1 -MONDO:0100318 "SARS-CoV-2-related disease" 1 0 0 0 0 1 +MONDO:0100318 "SARS-CoV-2-related disease" 1 1 0 0 0 1 NCBITaxon:8048 "Gadus" 0 1 0 0 0 0 -MONDO:0015723 "trisomy 12p" 1 5 0 0 0 0 -MONDO:0021839 "spirochaetales infections" 1 3 0 0 0 1 +MONDO:0015723 "trisomy 12p" 1 4 0 0 0 0 +MONDO:0021839 "spirochaetales infections" 1 4 0 0 0 1 MONDO:0000876 "obsolete herpes simplex virus keratitis" 0 0 0 0 0 0 MONDO:0009645 "chronic mucocutaneous candidiasis due to monocyte chemotactic disorder" 0 3 0 0 0 0 MONDO:0000065 "microvascular complications of diabetes, susceptibility" 0 2 0 0 0 1 @@ -31097,22 +31117,22 @@ MONDO:0005481 "contact dermatitis due to nickel" 1 3 0 0 0 1 http://identifiers.org/hgnc/61 "ABCD1" 0 0 0 0 0 0 MONDO:0002302 "obsolete acromegaly" 0 0 0 0 0 0 GO:0043933 "protein-containing complex subunit organization" 1 0 0 0 0 0 -MONDO:0000984 "thalassemia" 1 12 0 0 0 0 +MONDO:0000984 "thalassemia" 1 11 0 0 0 0 HP:0005406 "Recurrent bacterial skin infections" 1 1 0 0 0 0 MONDO:0002547 "nerve sheath neoplasm" 1 4 0 0 0 1 UBERON:0018408 "infra-orbital nerve" 0 0 0 0 0 1 MONDO:0003291 "leiomyoma cutis" 1 4 0 0 0 1 CL:0000020 "spermatogonium" 1 5 0 0 0 1 -MONDO:0019890 "non-distal trisomy 9q" 1 3 0 0 0 0 -MONDO:0001984 "candidal paronychia" 1 6 0 0 0 0 +MONDO:0019890 "non-distal trisomy 9q" 1 2 0 0 0 0 +MONDO:0001984 "candidal paronychia" 1 5 0 0 0 0 MONDO:0014175 "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" 1 6 0 0 0 0 -MONDO:0021048 "benign mastocytoma" 1 7 0 0 0 1 +MONDO:0021048 "benign mastocytoma" 1 6 0 0 0 1 MONDO:0043512 "traumatic encephalopathy" 1 3 0 0 0 0 MONDO:0000007 "obsolete atypical Mycobacteriosis, familial" 0 0 0 0 0 0 MONDO:0013358 "Seckel syndrome 4" 1 4 0 0 0 1 GO:0061061 "muscle structure development" 1 0 0 0 0 0 http://identifiers.org/hgnc/11937 "CD70" 0 0 0 0 0 0 -MONDO:0004298 "stomach disorder" 1 7 0 0 0 1 +MONDO:0004298 "stomach disorder" 1 8 0 0 0 1 NCBITaxon:10358 "Cytomegalovirus" 0 1 0 0 0 0 MONDO:0016239 "cystinosis" 1 14 0 0 0 0 UBERON:0007375 "roof of mouth" 0 0 0 0 0 0 @@ -31184,7 +31204,6 @@ MONDO:0008760 "beta-ketothiolase deficiency" 1 7 0 0 0 0 CL:0000240 "stratified squamous epithelial cell" 0 0 0 0 0 0 UBERON:0003041 "trigeminal nerve fibers" 0 0 0 0 0 1 http://identifiers.org/hgnc/6938 "CHST6" 0 0 0 0 0 0 -MONDO:0010994 "micromelic dwarfism, Fryns type" 0 7 0 0 0 0 CL:0000604 "retinal rod cell" 1 3 0 0 0 0 UBERON:0001051 "hypopharynx" 0 0 0 0 0 0 MONDO:0015395 "congenital subglottic stenosis" 0 4 0 0 0 0 @@ -31214,8 +31233,8 @@ ECTO:0000135 "exposure to organic compound" 1 0 0 0 0 1 MONDO:0014067 "short ulna-dysmorphism-hypotonia-intellectual disability syndrome" 0 4 0 0 0 0 HP:0000711 "Restlessness" 1 2 0 0 0 0 MONDO:0013036 "Zechi-Ceide syndrome" 0 6 0 0 0 0 -MONDO:0000594 "pervasive developmental disorder" 1 5 0 0 0 0 -MONDO:0100125 "hallucinogen-persisting perception disorder" 1 1 0 0 0 0 +MONDO:0000594 "pervasive developmental disorder" 1 6 0 0 0 0 +MONDO:0100125 "hallucinogen-persisting perception disorder" 1 0 0 0 0 0 UBERON:0003614 "blood vessel elastic tissue" 0 0 0 0 0 1 MONDO:0014217 "telangiectasia, hereditary hemorrhagic, type 5" 1 3 0 0 0 1 MONDO:0005163 "simian immunodeficiency virus infection" 1 1 0 0 0 1 @@ -31266,7 +31285,7 @@ MFOMD:0000013 "depressed mood episode"@en 1 0 0 0 0 0 MONDO:0010188 "familial isolated deficiency of vitamin E" 1 10 0 0 0 0 UBERON:0001514 "descending aorta" 0 0 0 0 0 0 MONDO:0021994 "Berk-Tabatznik syndrome" 0 3 0 0 0 0 -MONDO:0019874 "distal trisomy 7p" 1 3 0 0 0 0 +MONDO:0019874 "distal trisomy 7p" 1 2 0 0 0 0 MONDO:0009475 "isovaleric acidemia" 1 10 0 0 0 0 CL:0002257 "epithelial cell of thyroid gland" 1 1 0 0 0 1 http://identifiers.org/hgnc/2567 "OFD1" 0 0 0 0 0 0 @@ -31302,7 +31321,7 @@ MONDO:0030024 "neurodevelopmental disorder with or without autistic features and MONDO:0005174 "acute hypotension" 1 1 0 0 0 1 MONDO:0023119 "familial myelofibrosis" 0 3 0 0 0 0 MONDO:0032678 "developmental and epileptic encephalopathy, 71" 0 1 0 0 0 0 -MONDO:0001730 "urethral syndrome" 0 5 0 0 0 0 +MONDO:0001730 "urethral syndrome" 0 4 0 0 0 0 ECTO:9001695 "exposure to nutrient" 1 0 0 0 0 1 MONDO:0008601 "triglyceride storage disease, type 1" 0 3 0 0 0 0 MONDO:0008120 "spinocerebellar ataxia type 7" 1 8 0 0 0 1 @@ -31319,7 +31338,7 @@ MONDO:0044346 "echinococcus granulosus infectious disease" 1 4 0 0 0 1 GO:0006487 "protein N-linked glycosylation" 1 0 0 0 0 0 MONDO:0004101 "multicentric papillary thyroid carcinoma" 1 3 0 0 0 0 MONDO:0014830 "platelet-type bleeding disorder 20" 1 4 0 0 0 1 -MONDO:0006583 "necrobiosis lipoidica" 1 10 0 0 0 0 +MONDO:0006583 "necrobiosis lipoidica" 1 9 0 0 0 0 UBERON:0009664 "gut mesentery" 0 0 0 0 0 0 MONDO:0008940 "endosteal sclerosis-cerebellar hypoplasia syndrome" 1 6 0 0 0 0 MONDO:0012857 "porokeratosis 5, disseminated superficial actinic type" 0 4 0 0 0 0 @@ -31330,7 +31349,7 @@ MONDO:0001553 "phacolytic glaucoma" 1 4 0 0 0 0 MONDO:0010520 "X-linked Alport syndrome" 1 8 0 0 0 1 UBERON:0004200 "kidney pyramid" 0 0 0 0 0 0 MONDO:0011124 "spondyloepimetaphyseal dysplasia-abnormal dentition syndrome" 1 5 0 0 0 0 -MONDO:0005393 "gout" 1 13 0 0 0 0 +MONDO:0005393 "gout" 1 12 0 0 0 0 MONDO:0012989 "microcephaly 7, primary, autosomal recessive" 1 5 0 0 0 1 MONDO:0100283 "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes" 1 0 0 0 0 0 BFO:0000031 "generically dependent continuant"@en 2 0 0 0 0 0 @@ -31339,15 +31358,15 @@ GO:0001216 "DNA-binding transcription activator activity" 1 0 0 0 0 1 http://identifiers.org/hgnc/7559 "MYCN" 0 0 0 0 0 0 MONDO:0019986 "sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy" 0 3 0 0 0 0 MONDO:0014900 "autosomal recessive limb-girdle muscular dystrophy type 2Y" 1 6 0 0 0 1 -MONDO:0001465 "superficial keratitis" 0 5 0 0 0 0 +MONDO:0001465 "superficial keratitis" 0 4 0 0 0 0 UBERON:0003395 "mesentery of rectum" 0 0 0 0 0 1 GO:0000976 "transcription cis-regulatory region binding" 1 0 0 0 0 0 -MONDO:0019472 "extranodal nasal NK/T cell lymphoma" 1 7 0 0 0 0 +MONDO:0019472 "extranodal nasal NK/T cell lymphoma" 1 6 0 0 0 0 MONDO:0006340 "ovarian serous adenofibroma" 1 4 0 0 0 1 GO:0022804 "active transmembrane transporter activity" 1 0 0 0 0 0 http://identifiers.org/hgnc/1713 "CDAN1" 0 0 0 0 0 0 http://identifiers.org/hgnc/68 "ABCD4" 0 0 0 0 0 0 -MONDO:0001110 "chronic pyelonephritis" 1 7 0 0 0 1 +MONDO:0001110 "chronic pyelonephritis" 1 5 0 0 0 1 MONDO:0004682 "retromolar area cancer" 1 4 0 0 0 1 UBERON:0006173 "pronephric proximal tubule" 0 0 0 0 0 1 http://identifiers.org/hgnc/13221 "BCL11A" 0 0 0 0 0 0 @@ -31362,7 +31381,7 @@ MONDO:0700010 "chromosome 3 disorder" 1 0 0 0 0 1 NCBITaxon:44556 "Phlebotomus " 0 1 0 0 0 0 MONDO:0014994 "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" 0 2 0 0 0 0 CL:0002149 "epithelial cell of uterus" 1 1 0 0 0 1 -MONDO:0013078 "type 1 diabetes mellitus 24" 1 5 0 0 0 0 +MONDO:0013078 "type 1 diabetes mellitus 24" 1 4 0 0 0 0 MONDO:0010127 "thymoma, familial" 1 4 0 0 0 1 MONDO:0044238 "obsolete lunulae of fingernails" 0 1 0 0 0 0 CL:0002681 "kidney cortical cell" 0 0 0 0 0 1 @@ -31388,14 +31407,14 @@ http://identifiers.org/hgnc/13222 "BCL11B" 0 0 0 0 0 0 MONDO:0010829 "CARASIL syndrome" 1 8 0 0 0 0 MONDO:0016487 "beta-thalassemia intermedia" 1 6 0 0 0 0 MONDO:0004508 "periapical periodontitis" 1 6 0 0 0 0 -MONDO:0001569 "acoustic neuroma" 1 10 0 0 0 0 +MONDO:0001569 "acoustic neuroma" 1 9 0 0 0 0 MONDO:0024537 "Brown-Vialetto-van Laere syndrome 1" 1 4 0 0 0 1 GO:0015850 "organic hydroxy compound transport" 1 0 0 0 0 0 ENVO:01000256 "mineral material" 1 0 0 0 0 1 NCBITaxon:2560080 "Rubulavirinae" 0 1 0 0 0 0 MONDO:0004820 "peripheral nerve schwannoma" 1 3 0 0 0 0 MONDO:0020512 "precursor T-cell acute lymphoblastic leukemia" 0 2 0 0 0 0 -MONDO:0005507 "gingival cancer" 1 11 0 0 0 1 +MONDO:0005507 "gingival cancer" 1 9 0 0 0 1 MONDO:0020612 "obsolete blood group, kidd system" 0 1 0 0 0 0 UBERON:0010133 "neuroendocrine gland" 0 0 0 0 0 1 NBO:0000747 "jaw movement" 0 0 0 0 0 0 @@ -31416,8 +31435,8 @@ MONDO:0010001 "ectodermal dysplasia-blindness syndrome" 1 6 0 0 0 0 CHR:9606-chr2p16.3 "2p16.3 (Human)" 0 0 0 0 0 0 MONDO:0004734 "obsolete erythromelalgia" 0 0 0 0 0 0 MONDO:0003823 "obsolete transient hypogammaglobulinemia of infancy" 0 0 0 0 0 0 -MONDO:0005388 "primary biliary cholangitis" 1 19 0 0 0 0 -MONDO:0002277 "arteriosclerosis disorder" 1 17 0 0 0 0 +MONDO:0005388 "primary biliary cholangitis" 1 17 0 0 0 0 +MONDO:0002277 "arteriosclerosis disorder" 1 16 0 0 0 0 MONDO:0017026 "interstitial lung disease specific to adulthood" 0 2 0 0 0 0 MONDO:0056818 "skin adenosquamous carcinoma" 1 2 0 0 0 1 MONDO:0014375 "congenital diarrhea 7 with exudative enteropathy" 1 5 0 0 0 1 @@ -31432,7 +31451,7 @@ GO:0032649 "regulation of interferon-gamma production" 1 0 0 0 0 1 UBERON:0017654 "buccal gland" 0 0 0 0 0 1 NCBITaxon:6072 "Eumetazoa" 0 1 0 0 0 0 MONDO:0700065 "trisomy" 1 2 0 0 0 0 -MONDO:0019147 "myiasis" 1 17 0 0 0 0 +MONDO:0019147 "myiasis" 1 16 0 0 0 0 MONDO:0021055 "classic familial adenomatous polyposis" 1 14 0 0 0 0 MONDO:0015137 "periodic fever syndrome" 1 6 0 0 0 0 MONDO:0006486 "uveal melanoma" 1 14 0 0 0 1 @@ -31451,15 +31470,14 @@ MONDO:0008602 "triglyceride storage disease, type 2" 0 3 0 0 0 0 MONDO:0007387 "Cornelia de Lange syndrome 1" 1 7 0 0 0 1 http://identifiers.org/hgnc/14508 "MRPS22" 0 0 0 0 0 0 MONDO:0013426 "aneurysm-osteoarthritis syndrome" 0 5 0 0 0 0 -MONDO:0007289 "cataract 13 with adult I phenotype" 1 5 0 0 0 0 +MONDO:0007289 "cataract 13 with adult I phenotype" 1 4 0 0 0 0 http://identifiers.org/hgnc/8783 "PDE4D" 0 0 0 0 0 0 MONDO:0008653 "vesicoureteral reflux 1" 0 4 0 0 0 0 -MONDO:0018871 "acute myelomonocytic leukemia M4" 1 10 0 0 0 0 +MONDO:0018871 "acute myelomonocytic leukemia M4" 1 9 0 0 0 0 MONDO:0024487 "nail infection" 1 2 0 0 0 1 -MONDO:0024229 "miliaria crystallina" 1 2 0 0 0 0 +MONDO:0024229 "miliaria crystallina" 1 1 0 0 0 0 NCBITaxon:742845 "Malasseziaceae" 0 1 0 0 0 0 CL:1000510 "kidney glomerular epithelial cell" 0 1 0 0 0 1 -MONDO:0020061 "chromosome Y structural anomaly" 0 2 0 0 0 0 MONDO:0017506 "congenital absence/hypoplasia of thumb, unilateral" 1 2 0 0 0 0 MONDO:0003827 "transient hypogammaglobulinemia" 1 3 0 0 0 0 NCBITaxon:2732415 "Cossaviricota" 0 1 0 0 0 0 @@ -31488,7 +31506,7 @@ MONDO:0000860 "obsolete neural tube defect" 0 0 0 0 0 0 GO:0060491 "regulation of cell projection assembly" 1 0 0 0 0 1 MONDO:0004022 "parasagittal meningioma" 1 4 0 0 0 0 MONDO:0007704 "osteoarthritis susceptibility 2" 0 1 0 0 0 1 -MONDO:0014688 "short-rib thoracic dysplasia 14 with polydactyly" 1 4 0 0 0 0 +MONDO:0014688 "short-rib thoracic dysplasia 14 with polydactyly" 1 3 0 0 0 0 MONDO:0002138 "allergic contact dermatitis of eyelid" 1 5 0 0 0 1 UBERON:0008429 "cervical vertebral foramen" 0 0 0 0 0 1 MONDO:0006747 "enterotoxemia" 1 5 0 0 0 0 @@ -31509,7 +31527,7 @@ MONDO:0008838 "ataxia - deafness - intellectual disability syndrome" 1 6 0 0 0 0 MONDO:0010254 "obsolete hematopoietic stem cell kinetics, control of" 0 1 0 0 0 0 MONDO:0018222 "X-linked intellectual disability due to GRIA3 anomalies" 0 3 0 0 0 0 MONDO:0018809 "idiopathic peliosis hepatis" 0 1 0 0 0 0 -MONDO:0008231 "Peyronie disease" 1 6 0 0 0 0 +MONDO:0008231 "Peyronie disease" 1 5 0 0 0 0 GO:0071621 "granulocyte chemotaxis" 1 0 0 0 0 0 MONDO:0013340 "Parkinson disease 5, autosomal dominant, susceptibility to" 1 3 0 0 0 1 MONDO:0003869 "childhood brain stem glioma" 1 4 0 0 0 1 @@ -31519,14 +31537,15 @@ http://identifiers.org/hgnc/7579 "MYH9" 0 0 0 0 0 0 UBERON:0003389 "mesothelium of diaphragm" 0 0 0 0 0 1 MONDO:0011043 "myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay" 0 3 0 0 0 0 MONDO:0012317 "visceral neuropathy, familial, 3, autosomal dominant" 0 3 0 0 0 0 -MONDO:0007454 "type 1 diabetes mellitus 2" 1 5 0 0 0 1 +MONDO:0007454 "type 1 diabetes mellitus 2" 1 4 0 0 0 1 MONDO:0018193 "testicular teratoma" 0 6 0 0 0 0 GO:0002696 "positive regulation of leukocyte activation" 1 0 0 0 0 1 HP:0002012 "Abnormality of the abdominal organs" 1 1 0 0 0 0 MONDO:0002856 "gallbladder rhabdomyosarcoma" 1 3 0 0 0 1 MONDO:0016257 "obsolete adenosarcoma of the corpus uteri" 0 0 0 0 0 0 MONDO:0001833 "lacrimal duct obstruction" 1 4 0 0 0 0 -MONDO:0001322 "pericardium cancer" 1 6 0 0 0 1 +MONDO:0019683 "obsolete syndactyly type 2" 0 0 0 0 0 0 +MONDO:0001322 "pericardium cancer" 1 5 0 0 0 1 MONDO:0002455 "exocervical carcinoma" 1 4 0 0 0 1 MONDO:0043361 "May-Thurner syndrome" 1 4 0 0 0 0 NCBITaxon:10780 "Parvoviridae" 0 1 0 0 0 0 @@ -31551,7 +31570,6 @@ MONDO:0013807 "congenital stationary night blindness 1E" 1 3 0 0 0 1 MONDO:0005755 "equine infectious anemia" 1 3 0 0 0 0 MONDO:0019528 "IgG4-related hepatopathy" 1 2 0 0 0 0 MONDO:0008569 "thyroid hormone resistance, generalized, autosomal dominant" 0 4 0 0 0 0 -MONDO:0044967 "limb disorder" 1 3 0 0 0 1 PATO:0015022 "increased combustibility" 1 0 0 0 0 1 MONDO:0004912 "obsolete muscular dystrophy" 0 0 0 0 0 0 MONDO:0002040 "dermatomycosis" 1 6 0 0 0 0 @@ -31587,7 +31605,7 @@ CHR:9606-chr16q24 "16q24 (Human)" 0 0 0 0 0 0 http://identifiers.org/hgnc/10969 "SLC22A5" 0 0 0 0 0 0 MONDO:0016138 "obsolete malignant lymphoma with peripheral neuropathy" 0 1 0 0 0 0 MONDO:0007690 "aromatase excess syndrome" 1 10 0 0 0 0 -MONDO:0013215 "autosomal recessive nonsyndromic hearing loss 79" 1 5 0 0 0 1 +MONDO:0013215 "autosomal recessive nonsyndromic hearing loss 79" 1 4 0 0 0 1 MONDO:0042484 "disseminated sporotrichosis" 0 2 0 0 0 1 GO:0051956 "negative regulation of amino acid transport" 1 0 0 0 0 1 http://identifiers.org/hgnc/10298 "RPL10" 0 0 0 0 0 0 @@ -31626,7 +31644,7 @@ http://identifiers.org/hgnc/10968 "SLC22A4" 0 0 0 0 0 0 GO:0009260 "ribonucleotide biosynthetic process" 1 0 0 0 0 0 GO:0090303 "positive regulation of wound healing" 1 0 0 0 0 1 MONDO:0015801 "hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation" 0 2 0 0 0 0 -MONDO:0018069 "distal trisomy 17q" 1 3 0 0 0 0 +MONDO:0018069 "distal trisomy 17q" 1 2 0 0 0 0 MONDO:0008427 "sister chromatid exchange, frequency of" 0 1 0 0 0 0 UBERON:0004786 "gastrointestinal system mucosa" 0 0 0 0 0 1 http://identifiers.org/hgnc/8950 "SERPINB6" 0 0 0 0 0 0 @@ -31637,7 +31655,7 @@ MONDO:0006288 "malignant adrenal gland pheochromocytoma" 1 6 0 0 0 1 MONDO:8000002 "escherichia coli discitis" 1 0 0 0 0 1 HP:0002352 "Leukoencephalopathy" 1 3 0 0 0 0 CL:0000119 "cerebellar Golgi cell" 1 0 0 0 0 0 -MONDO:0014428 "autosomal recessive nonsyndromic hearing loss 102" 1 4 0 0 0 1 +MONDO:0014428 "autosomal recessive nonsyndromic hearing loss 102" 1 3 0 0 0 1 MONDO:0030339 "microcephaly 28, primary, autosomal recessive" 0 1 0 0 0 0 MONDO:0020094 "obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature" 1 2 0 0 0 0 CHEBI:29988 "L-glutamate(2-)" 1 0 0 0 0 0 @@ -31651,7 +31669,7 @@ UBERON:0002196 "adenohypophysis" 0 0 0 0 0 0 MONDO:0001565 "abnormal retinal correspondence" 0 5 0 0 0 0 MONDO:0054654 "combined oxidative phosphorylation deficiency 32" 0 3 0 0 0 0 MONDO:0100388 "acute myeloid leukemia, Monosomy 5" 1 1 0 0 0 0 -MONDO:0013961 "hypogonadotropic hypogonadism 16 with or without anosmia" 1 4 0 0 0 1 +MONDO:0013961 "hypogonadotropic hypogonadism 16 with or without anosmia" 1 3 0 0 0 1 MONDO:0018141 "pyruvate carboxylase deficiency, infantile form" 1 4 0 0 0 0 http://identifiers.org/hgnc/10057 "RNF13" 0 0 0 0 0 0 GO:0033280 "response to vitamin D" 1 0 0 0 0 0 @@ -31722,7 +31740,7 @@ CHEBI:18291 "manganese atom" 0 0 0 0 0 0 MONDO:0008832 "right atrial isomerism" 1 7 0 0 0 0 MONDO:0016230 "simple vascular malformation" 0 1 0 0 0 0 MONDO:0001693 "ego-dystonic sexual orientation" 1 2 0 0 0 0 -MONDO:0013489 "autosomal recessive nonsyndromic hearing loss 89" 1 5 0 0 0 1 +MONDO:0013489 "autosomal recessive nonsyndromic hearing loss 89" 1 4 0 0 0 1 MONDO:0008565 "familial thyroglossal duct cyst" 1 7 0 0 0 1 HP:0100502 "Vitamin B12 deficiency" 0 3 0 0 0 0 GO:0002269 "leukocyte activation involved in inflammatory response" 1 0 0 0 0 1 @@ -31730,7 +31748,7 @@ MONDO:0017508 "congenital absence/hypoplasia of fingers excluding thumb, bilater MONDO:0015598 "obsolete acrodermatitis continua suppurativa of Hallopeau" 0 0 0 0 0 0 CL:0000358 "sphincter associated smooth muscle cell" 1 0 0 0 0 1 MONDO:0032776 "hearing loss, autosomal recessive 99" 0 2 0 0 0 0 -MONDO:0012883 "acute promyelocytic leukemia" 1 13 0 0 0 0 +MONDO:0012883 "acute promyelocytic leukemia" 1 11 0 0 0 0 http://identifiers.org/hgnc/3178 "EDN3" 0 0 0 0 0 0 http://identifiers.org/hgnc/3176 "EDN1" 0 0 0 0 0 0 HP:0002334 "Abnormal cerebellar vermis morphology" 1 1 0 0 0 0 @@ -31742,7 +31760,7 @@ http://identifiers.org/hgnc/14124 "NPRL3" 0 0 0 0 0 0 MONDO:0007100 "familial amyloid neuropathy" 1 15 0 0 0 0 MONDO:0003681 "myxoid chondrosarcoma" 1 5 0 0 0 0 http://identifiers.org/hgnc/1424 "CAD" 0 0 0 0 0 0 -MONDO:0001154 "Siberian tick typhus" 1 5 0 0 0 1 +MONDO:0001154 "Siberian tick typhus" 1 4 0 0 0 1 GO:0014046 "dopamine secretion" 1 0 0 0 0 0 GO:1901532 "regulation of hematopoietic progenitor cell differentiation" 1 0 0 0 0 1 MONDO:0008283 "Cronkhite-Canada syndrome" 1 10 0 0 0 0 @@ -31753,7 +31771,7 @@ UBERON:0003542 "right lung respiratory bronchiole" 0 0 0 0 0 1 MONDO:0000403 "obsolete organ system cancer" 0 0 0 0 0 0 GO:0045648 "positive regulation of erythrocyte differentiation" 1 0 0 0 0 1 MONDO:0012510 "combined oxidative phosphorylation defect type 2" 1 7 0 0 0 1 -MONDO:0004909 "urethral gland abscess" 0 4 0 0 0 0 +MONDO:0004909 "urethral gland abscess" 0 3 0 0 0 0 http://identifiers.org/hgnc/28358 "D2HGDH" 0 0 0 0 0 0 MONDO:0018764 "microcephalic primordial dwarfism due to RTTN deficiency" 1 2 0 0 0 0 MONDO:0007310 "Charcot-Marie-Tooth disease, Guadalajara neuronal type" 0 3 0 0 0 0 @@ -31761,14 +31779,14 @@ CHEBI:16716 "benzene" 1 0 0 0 0 0 UBERON:0003083 "trunk neural crest" 0 0 0 0 0 0 UBERON:0034728 "autonomic nerve" 0 0 0 0 0 0 MONDO:0016201 "qualitative or quantitative defects of myotilin" 0 1 0 0 0 0 -MONDO:0019091 "bronchopulmonary dysplasia" 1 8 0 0 0 0 +MONDO:0019091 "bronchopulmonary dysplasia" 1 7 0 0 0 0 http://identifiers.org/hgnc/22962 "MED13L" 0 0 0 0 0 0 ECTO:9001811 "exposure to protic solvent" 1 0 0 0 0 1 MONDO:0100135 "Dravet syndrome" 1 7 0 0 0 0 MONDO:0021895 "temporomandibular joint dysfunction syndrome" 1 3 0 0 0 0 GO:0140039 "cell-cell adhesion in response to extracellular stimulus" 1 0 0 0 0 1 MONDO:0011826 "glucocorticoid deficiency 2" 1 4 0 0 0 1 -MONDO:0007769 "hyperpigmentation of eyelid" 1 8 0 0 0 0 +MONDO:0007769 "hyperpigmentation of eyelid" 1 7 0 0 0 0 http://identifiers.org/hgnc/2171 "CNTN1" 0 0 0 0 0 0 MONDO:0014736 "Charcot-Marie-Tooth disease axonal type 2Z" 1 4 0 0 0 1 MONDO:0016170 "chronic polyradiculoneuropathy" 1 2 0 0 0 1 @@ -31791,16 +31809,16 @@ MONDO:0010450 "intellectual disability, X-linked 89" 0 3 0 0 0 0 http://identifiers.org/hgnc/897 "AVPR2" 0 0 0 0 0 0 MONDO:0014690 "dyskeratosis congenita, autosomal dominant 6" 1 5 0 0 0 1 HP:0025354 "Abnormal cellular phenotype" 1 0 0 0 0 0 -MONDO:0008346 "pulmonary hemosiderosis" 1 14 0 0 0 0 +MONDO:0008346 "pulmonary hemosiderosis" 1 12 0 0 0 0 http://identifiers.org/hgnc/8952 "SERPINB8" 0 0 0 0 0 0 CHEBI:38234 "DNA polymerase inhibitor" 1 0 0 0 0 0 -MONDO:0004847 "senile cataract" 1 6 0 0 0 0 +MONDO:0004847 "senile cataract" 1 5 0 0 0 0 MONDO:0009467 "natal teeth-intestinal pseudoobstruction-patent ductus syndrome" 0 6 0 0 0 0 -MONDO:0001084 "primary optic atrophy" 0 5 0 0 0 0 +MONDO:0001084 "primary optic atrophy" 0 4 0 0 0 0 MONDO:0012972 "febrile seizures, familial, 10" 0 4 0 0 0 0 MONDO:0054699 "proteasome-associated autoinflammatory syndrome 3" 0 1 0 0 0 0 NCBITaxon:46683 "Ascaridiidae" 0 1 0 0 0 0 -MONDO:0014091 "mitochondrial complex V (ATP synthase) deficiency nuclear type 4" 1 5 0 0 0 1 +MONDO:0014091 "mitochondrial complex V (ATP synthase) deficiency nuclear type 4" 1 4 0 0 0 1 SO:1000008 "point_mutation" 1 0 0 0 0 0 GO:1902064 "regulation of transcription from RNA polymerase II promoter involved in spermatogenesis" 1 0 0 0 0 1 MONDO:0015528 "congenital epulis" 1 6 0 0 0 0 @@ -31817,7 +31835,7 @@ MONDO:0043247 "Mallory-Weiss syndrome" 1 5 0 0 0 0 MONDO:0008691 "zinc, elevated plasma" 0 3 0 0 0 0 UBERON:0014794 "pectoral appendage muscle" 0 0 0 0 0 1 MFOMD:0000001 "mental disease" 1 0 0 0 0 0 -MONDO:0013274 "retinitis pigmentosa 51" 1 4 0 0 0 0 +MONDO:0013274 "retinitis pigmentosa 51" 1 3 0 0 0 0 UBERON:0001171 "portal lobule" 0 0 0 0 0 0 GO:0002688 "regulation of leukocyte chemotaxis" 1 0 0 0 0 1 MONDO:0013938 "peroxisome biogenesis disorder 7A (Zellweger)" 0 3 0 0 0 0 @@ -31838,12 +31856,12 @@ MONDO:0011207 "xanthomatosis, susceptibility to" 0 3 0 0 0 0 MONDO:0011543 "obsolete BRCA3" 0 4 0 0 0 0 MONDO:0014486 "intellectual disability, autosomal dominant 30" 1 4 0 0 0 1 UBERON:0007723 "interphalangeal joint of manual digit 1" 0 0 0 0 0 1 -MONDO:0003634 "proteinuria" 1 6 0 0 0 0 +MONDO:0003634 "proteinuria" 1 5 0 0 0 0 MONDO:0004536 "obsolete villoglandular variant cervical mucinous adenocarcinoma" 0 0 0 0 0 0 http://identifiers.org/hgnc/1509 "CASP8" 0 0 0 0 0 0 MONDO:0019274 "obsolete other epidermal disorder" 0 2 0 0 0 0 UBERON:0003861 "neural arch" 0 0 0 0 0 0 -MONDO:0000908 "arrhythmogenic right ventricular dysplasia 13" 1 5 0 0 0 1 +MONDO:0000908 "arrhythmogenic right ventricular dysplasia 13" 1 4 0 0 0 1 MONDO:0032659 "mucocutaneous ulceration, chronic" 0 1 0 0 0 0 CL:0011111 "gonadotropin releasing neuron" 1 0 0 0 0 1 MONDO:0003487 "pseudoglandular squamous cell carcinoma" 1 6 0 0 0 0 @@ -31890,10 +31908,10 @@ MONDO:0004473 "epiglottis cancer" 1 6 0 0 0 1 MONDO:0017353 "neonatal glycine encephalopathy" 1 3 0 0 0 0 NCBITaxon:34503 "Paragonimus" 0 1 0 0 0 0 MONDO:0013022 "restless legs syndrome, susceptibility to, 7" 0 1 0 0 0 0 -MONDO:0013854 "primary ciliary dyskinesia 17" 1 4 0 0 0 1 +MONDO:0013854 "primary ciliary dyskinesia 17" 1 3 0 0 0 1 MONDO:0005704 "Ciliophora infectious disease" 1 3 0 0 0 1 GO:0050820 "positive regulation of coagulation" 1 0 0 0 0 1 -MONDO:0002013 "lymphangioma" 1 11 0 0 0 0 +MONDO:0002013 "lymphangioma" 1 10 0 0 0 0 HP:0000843 "Hyperparathyroidism" 1 3 0 0 0 0 MONDO:0041403 "toxic amblyopia" 1 1 0 0 0 1 MONDO:0014223 "amyotrophic lateral sclerosis type 19" 1 4 0 0 0 1 @@ -31901,9 +31919,9 @@ MONDO:0014516 "microcephaly and chorioretinopathy 2" 1 4 0 0 0 1 MONDO:0009735 "Netherton syndrome" 1 10 0 0 0 0 UBERON:0004808 "gastrointestinal system epithelium" 0 0 0 0 0 1 SO:1000045 "ring_chromosome" 1 0 0 0 0 0 -MONDO:0008485 "sebocystomatosis" 1 8 0 0 0 0 +MONDO:0008485 "sebocystomatosis" 1 7 0 0 0 0 UBERON:0004199 "S-shaped body" 0 0 0 0 0 0 -MONDO:0018521 "squamous cell carcinoma of pancreas" 1 9 0 0 0 1 +MONDO:0018521 "squamous cell carcinoma of pancreas" 1 4 0 0 0 1 MONDO:0015487 "fatal infantile encephalocardiomyopathy" 1 9 0 0 0 0 MONDO:0023200 "Fryns Fabry Remans syndrome" 0 1 0 0 0 0 MONDO:0042960 "Sackey-Sakati-Aur syndrome" 0 3 0 0 0 0 @@ -31926,7 +31944,7 @@ MONDO:0019802 "secondary short bowel syndrome" 1 3 0 0 0 0 CHR:9606-chrXp11 "Xp11 (Human)" 0 0 0 0 0 0 MONDO:0020428 "congenital Gerbode defect" 0 3 0 0 0 0 http://identifiers.org/hgnc/11762 "TFR2" 0 0 0 0 0 0 -MONDO:0004844 "oral mucosa leukoplakia" 1 9 0 0 0 1 +MONDO:0004844 "oral mucosa leukoplakia" 1 7 0 0 0 1 MONDO:0017355 "inborn disorder of proline metabolism" 1 3 0 0 0 1 MONDO:0005986 "torovirus infectious disease" 1 3 0 0 0 1 GO:0022008 "neurogenesis" 1 0 0 0 0 0 @@ -31962,7 +31980,7 @@ UBERON:0005174 "dorsal region element" 0 0 0 0 0 1 MONDO:0012264 "preeclampsia/eclampsia 2" 0 3 0 0 0 0 ENVO:01000845 "crystal"@en 1 0 0 0 0 0 UBERON:0013502 "5th arch mesenchyme" 0 0 0 0 0 1 -MONDO:0002306 "angular blepharoconjunctivitis" 1 5 0 0 0 0 +MONDO:0002306 "angular blepharoconjunctivitis" 1 4 0 0 0 0 MONDO:0003259 "obsolete melioidosis" 0 0 0 0 0 0 MONDO:0016789 "pyruvate metabolism disorder" 1 3 0 0 0 1 http://identifiers.org/hgnc/1339 "C6" 0 0 0 0 0 0 @@ -31975,7 +31993,7 @@ UBERON:0011645 "iliofemoralis muscle" 0 0 0 0 0 1 MONDO:0008974 "Greenberg dysplasia" 1 9 0 0 0 0 MONDO:0016199 "qualitative or quantitative defects of protein SERCA1" 0 1 0 0 0 0 MONDO:0045031 "obsolete infectious diarrheal disease" 0 0 0 0 0 0 -MONDO:0002325 "tooth erosion, non-bacterial" 1 9 0 0 0 0 +MONDO:0002325 "tooth erosion, non-bacterial" 1 8 0 0 0 0 http://identifiers.org/hgnc/3495 "ETV6" 0 0 0 0 0 0 MONDO:0006805 "intermediate coronary syndrome" 1 8 0 0 0 0 MONDO:0015381 "commissural lip fistula" 1 2 0 0 0 1 @@ -32008,13 +32026,13 @@ GO:0006517 "protein deglycosylation" 1 0 0 0 0 0 UBERON:0019319 "exocrine gland of integumental system" 0 0 0 0 0 1 MONDO:0002934 "intravascular angioleiomyoma" 1 3 0 0 0 0 MONDO:0003794 "obsolete mediastinal neurilemmoma" 0 0 0 0 0 0 -MONDO:0008855 "MHC class II deficiency" 1 10 0 0 0 0 +MONDO:0008855 "MHC class II deficiency" 1 8 0 0 0 0 MONDO:0010599 "granulomas, congenital cerebral" 0 4 0 0 0 0 MONDO:0008299 "posterior column ataxia" 0 4 0 0 0 0 HP:0010522 "Dyslexia" 1 5 0 0 0 0 CHEBI:50846 "immunomodulator" 1 0 0 0 0 0 MONDO:0029132 "Liddle syndrome 3" 0 1 0 0 0 0 -MONDO:0011057 "cerebrovascular disorder" 1 19 0 0 0 0 +MONDO:0011057 "cerebrovascular disorder" 1 16 0 0 0 0 MONDO:0016163 "autosomal dominant cerebellar ataxia type II" 0 2 0 0 0 0 MONDO:0015330 "overgrowth/obesity syndrome" 0 2 0 0 0 0 MONDO:0018642 "NIK deficiency" 1 2 0 0 0 1 @@ -32027,14 +32045,14 @@ HP:0011563 "Abnormal ventriculoarterial connection" 1 1 0 0 0 0 MONDO:0002891 "obsolete gastrointestinal neuroendocrine benign tumor" 0 1 0 0 0 0 UBERON:0009891 "facial mesenchyme" 0 0 0 0 0 1 MONDO:0016418 "multiple system atrophy, cerebellar type" 1 3 0 0 0 0 -MONDO:0004646 "decubitus ulcer" 1 10 0 0 0 0 +MONDO:0004646 "decubitus ulcer" 1 8 0 0 0 0 http://identifiers.org/hgnc/3585 "FANCD2" 0 0 0 0 0 0 MONDO:0015679 "autosomal thrombocytopenia with normal platelets" 0 6 0 0 0 0 CHEBI:16150 "benzoate" 1 0 0 0 0 0 MONDO:0020370 "Cogan-Reese syndrome" 1 8 0 0 0 0 MONDO:0005533 "distal colitis" 1 4 0 0 0 1 MONDO:0021203 "serous otitis media" 0 1 0 0 0 0 -MONDO:0001165 "tongue disorder" 1 8 0 0 0 1 +MONDO:0001165 "tongue disorder" 1 6 0 0 0 1 GO:0000096 "sulfur amino acid metabolic process" 1 0 0 0 0 0 MONDO:0003790 "prostatic urethra urothelial carcinoma" 1 3 0 0 0 1 MONDO:0009981 "obsolete retinitis pigmentosa type 1" 0 0 0 0 0 0 @@ -32062,7 +32080,7 @@ NCIT:C83490 "Microscopic Finding" 0 0 0 0 0 0 MONDO:0005235 "smoldering plasma cell myeloma" 1 4 0 0 0 0 MONDO:0018422 "autosomal recessive spastic paraplegia type 70" 1 3 0 0 0 0 UBERON:0005236 "osseus labyrinth vestibule" 0 0 0 0 0 0 -MONDO:0020533 "streptobacillary rat-bite fever" 1 7 0 0 0 1 +MONDO:0020533 "streptobacillary rat-bite fever" 1 6 0 0 0 1 CHEBI:61655 "steroid saponin" 1 0 0 0 0 0 MONDO:0010182 "hypercarotenemia and vitamin A deficiency, autosomal recessive" 0 4 0 0 0 0 GO:0010821 "regulation of mitochondrion organization" 1 0 0 0 0 1 @@ -32093,7 +32111,7 @@ MONDO:0000497 "pyometritis" 1 6 0 0 0 1 IAO:8000019 "ontology module subsetted by OWL profile"@en 0 0 0 0 0 0 MONDO:0043358 "engraftment syndrome" 1 4 0 0 0 0 http://identifiers.org/hgnc/2488 "NKX2-5" 0 0 0 0 0 0 -MONDO:0001423 "drug-induced mental disorder" 0 3 0 0 0 1 +MONDO:0001423 "drug-induced mental disorder" 0 4 0 0 0 1 MONDO:0002281 "macrocytic anemia" 1 6 0 0 0 0 UBERON:0002342 "neural crest" 0 0 0 0 0 0 UBERON:0009124 "geniculate placode" 0 0 0 0 0 0 @@ -32131,7 +32149,7 @@ MONDO:0010549 "Charcot-Marie-Tooth disease X-linked dominant 1" 1 8 0 0 0 1 MONDO:0044642 "c11orf73-related autosomal recessive hypomyelinating leukodystrophy" 0 1 0 0 0 0 MONDO:0016857 "blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome" 1 4 0 0 0 0 UBERON:0004390 "epiphysis of metacarpal bone" 0 0 0 0 0 1 -MONDO:0019870 "distal trisomy 1p36" 1 4 0 0 0 0 +MONDO:0019870 "distal trisomy 1p36" 1 3 0 0 0 0 GO:0016202 "regulation of striated muscle tissue development" 1 0 0 0 0 1 UBERON:0001830 "minor salivary gland" 0 0 0 0 0 0 MONDO:0003114 "obsolete bone giant cell sarcoma" 0 0 0 0 0 0 @@ -32151,7 +32169,7 @@ GO:0003354 "negative regulation of cilium movement" 1 0 0 0 0 1 HP:0100963 "Hyperesthesia" 1 3 0 0 0 0 MONDO:0006659 "arteriosclerosis obliterans" 1 7 0 0 0 0 CL:0002546 "embryonic blood vessel endothelial progenitor cell" 1 0 0 0 0 0 -MONDO:0014107 "hypogonadotropic hypogonadism 21 with or without anosmia" 1 5 0 0 0 1 +MONDO:0014107 "hypogonadotropic hypogonadism 21 with or without anosmia" 1 4 0 0 0 1 GO:0070013 "intracellular organelle lumen" 1 0 0 0 0 1 UBERON:0004875 "nephrogenic cord" 0 0 0 0 0 0 MONDO:0006910 "obsolete pituitary-dependent Cushing disease" 0 0 0 0 0 0 @@ -32168,7 +32186,7 @@ UBERON:0035826 "left adrenal gland medulla" 0 0 0 0 0 1 MONDO:0015161 "multiple congenital anomalies/dysmorphic syndrome without intellectual disability" 0 1 0 0 0 0 GO:0031987 "locomotion involved in locomotory behavior" 1 0 0 0 0 1 MONDO:0000273 "Kunjin virus infectous disease" 0 1 0 0 0 1 -MONDO:0014675 "autosomal recessive nonsyndromic hearing loss 104" 1 4 0 0 0 1 +MONDO:0014675 "autosomal recessive nonsyndromic hearing loss 104" 1 3 0 0 0 1 MONDO:0021198 "obsolete rare genetic disease" 0 2 0 0 0 0 CL:0000762 "nucleated thrombocyte" 1 0 0 0 0 1 MONDO:0010611 "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius" 1 7 0 0 0 0 @@ -32192,7 +32210,7 @@ MONDO:0032852 "myopathy, congenital, with structured cores and z-line abnormalit CHEBI:74818 "heteroaryl hydroxy compound" 1 0 0 0 0 0 NCBITaxon:222544 "Sordariomycetidae" 0 1 0 0 0 0 HP:0000924 "Abnormality of the skeletal system" 1 1 0 0 0 0 -MONDO:0003085 "keratitis" 1 10 0 0 0 1 +MONDO:0003085 "keratitis" 1 9 0 0 0 1 UBERON:0009610 "forebrain neural plate" 0 0 0 0 0 0 http://identifiers.org/hgnc/16783 "CDC73" 0 0 0 0 0 0 CL:0002350 "endocardial cell" 1 1 0 0 0 1 @@ -32218,13 +32236,13 @@ GO:0006743 "ubiquinone metabolic process" 1 0 0 0 0 0 UBERON:0007304 "appendage vasculature" 0 0 0 0 0 1 GO:0036161 "calcitonin secretion" 1 0 0 0 0 0 GO:0050885 "neuromuscular process controlling balance" 1 0 0 0 0 0 -MONDO:0004684 "plantar fibromatosis" 1 7 0 0 0 1 +MONDO:0004684 "plantar fibromatosis" 1 6 0 0 0 1 GO:0090394 "negative regulation of excitatory postsynaptic potential" 1 0 0 0 0 1 MONDO:0022034 "lentivirus infection" 1 3 0 0 0 1 MONDO:0010663 "X-linked intellectual disability-hypotonic face syndrome" 1 10 0 0 0 0 MONDO:0019775 "Chudley-Lowry-Hoar syndrome" 1 5 0 0 0 0 UBERON:0003672 "dentition" 0 0 0 0 0 1 -MONDO:0014296 "Warburg micro syndrome 4" 1 5 0 0 0 1 +MONDO:0014296 "Warburg micro syndrome 4" 1 4 0 0 0 1 MONDO:0013356 "vesicoureteral reflux 3" 1 3 0 0 0 1 UBERON:0007239 "tunica media of artery" 0 0 0 0 0 1 UBERON:0005034 "mucosa of right main bronchus" 0 0 0 0 0 1 @@ -32266,7 +32284,7 @@ MONDO:0009815 "autosomal recessive osteopetrosis 1" 1 5 0 0 0 1 http://identifiers.org/hgnc/7643 "NARS1" 0 0 0 0 0 0 CHR:9606-chr20p "20p (Human)" 0 0 0 0 0 0 MONDO:0010906 "orofacial cleft 11" 1 4 0 0 0 1 -MONDO:0007319 "chondrocalcinosis 2" 1 7 0 0 0 0 +MONDO:0007319 "chondrocalcinosis 2" 1 6 0 0 0 0 MONDO:0012680 "nephronophthisis 7" 1 5 0 0 0 1 MONDO:0000487 "hemidystonia" 1 4 0 0 0 0 MONDO:0003245 "aflatoxin-related hepatocellular carcinoma" 1 3 0 0 0 1 @@ -32285,7 +32303,7 @@ CHEBI:35605 "carbon oxoacid" 0 0 0 0 0 0 GO:1900115 "extracellular regulation of signal transduction" 1 0 0 0 0 1 MONDO:0014247 "familial episodic pain syndrome with predominantly lower limb involvement" 1 6 0 0 0 0 http://identifiers.org/hgnc/7989 "NRAS" 0 0 0 0 0 0 -MONDO:0013367 "long QT syndrome 2" 1 10 0 0 0 0 +MONDO:0013367 "long QT syndrome 2" 1 9 0 0 0 0 CHEBI:33284 "nutrient" 1 0 0 0 0 0 GO:0032277 "negative regulation of gonadotropin secretion" 1 0 0 0 0 1 NCBITaxon:12721 "Human immunodeficiency virus" 0 1 0 0 0 0 @@ -32299,8 +32317,8 @@ UBERON:0005109 "metanephric smooth muscle tissue" 0 0 0 0 0 1 GO:0016840 "carbon-nitrogen lyase activity" 1 0 0 0 0 0 UBERON:0035383 "lateral wall of nasopharynx" 0 0 0 0 0 1 HP:0005607 "Abnormal tracheobronchial morphology" 0 2 0 0 0 0 -MONDO:0014577 "short-rib thoracic dysplasia 13 with or without polydactyly" 1 5 0 0 0 0 -MONDO:0001231 "orbital periostitis" 0 5 0 0 0 0 +MONDO:0014577 "short-rib thoracic dysplasia 13 with or without polydactyly" 1 4 0 0 0 0 +MONDO:0001231 "orbital periostitis" 0 4 0 0 0 0 MONDO:0000175 "obsolete ataxia-telangiectasia-like disorder" 0 0 0 0 0 0 MONDO:0011114 "familial multiple trichoepithelioma" 0 8 0 0 0 0 http://identifiers.org/hgnc/16915 "HAX1" 0 0 0 0 0 0 @@ -32335,7 +32353,7 @@ http://identifiers.org/hgnc/9236 "PPARG" 0 0 0 0 0 0 MONDO:0023577 "Krieble Bixler syndrome" 0 3 0 0 0 0 MONDO:0030318 "spinocerebellar ataxia, autosomal recessive 30" 0 1 0 0 0 0 MONDO:0018369 "immature ovarian teratoma" 1 8 0 0 0 1 -MONDO:0005722 "croup" 1 8 0 0 0 0 +MONDO:0005722 "croup" 1 7 0 0 0 0 MONDO:0001057 "malignant gastric granular cell tumor" 1 3 0 0 0 0 MONDO:0011386 "microvascular complications of diabetes, susceptibility to, 1" 1 1 0 0 0 1 UBERON:0003424 "mesenchyme of hard palate" 0 0 0 0 0 1 @@ -32356,7 +32374,7 @@ MONDO:0020367 "juvenile open angle glaucoma" 1 12 0 0 0 1 MONDO:0000064 "obsolete syndromic microphthalmia" 0 0 0 0 0 0 UBERON:0002209 "fibrous joint" 0 0 0 0 0 0 NCBITaxon:43920 "Chrysopsinae" 0 1 0 0 0 0 -MONDO:0001754 "eclampsia" 1 10 0 0 0 0 +MONDO:0001754 "eclampsia" 1 9 0 0 0 0 http://identifiers.org/hgnc/16035 "STRC" 0 0 0 0 0 0 MONDO:0044656 "epidermolytic nevus" 0 3 0 0 0 0 MONDO:0012942 "lung cancer susceptibility 3" 0 2 0 0 0 0 @@ -32425,7 +32443,7 @@ MONDO:0019590 "obsolete rare endocrine growth disease" 0 2 0 0 0 0 GO:0099004 "calmodulin dependent kinase signaling pathway" 1 0 0 0 0 1 http://identifiers.org/hgnc/23215 "PIGO" 0 0 0 0 0 0 MONDO:0015399 "glossopalatine ankylosis" 1 5 0 0 0 0 -MONDO:0018362 "persistent idiopathic facial pain" 0 2 0 0 0 0 +MONDO:0018362 "persistent idiopathic facial pain" 0 1 0 0 0 0 UBERON:0004267 "back connective tissue" 0 0 0 0 0 1 UBERON:0002412 "vertebra" 0 0 0 0 0 1 MONDO:0003724 "non-proliferative fibrocystic change of the breast" 1 3 0 0 0 0 @@ -32443,12 +32461,12 @@ MONDO:0007593 "facial spasm" 0 1 0 0 0 0 MONDO:0017078 "cephalocele" 1 10 0 0 0 0 MONDO:0010373 "premature ovarian failure 2B" 1 3 0 0 0 1 UBERON:0004296 "respiratory system lymphatic vessel smooth muscle" 0 0 0 0 0 1 -MONDO:0002104 "conversion disorder" 1 5 0 0 0 0 +MONDO:0002104 "conversion disorder" 1 4 0 0 0 0 UBERON:0002080 "heart right ventricle" 0 0 0 0 0 1 -MONDO:0001171 "acute salpingo-oophoritis" 1 6 0 0 0 1 +MONDO:0001171 "acute salpingo-oophoritis" 1 4 0 0 0 1 MONDO:0005658 "Astroviridae infectious disease" 1 3 0 0 0 1 MONDO:0022765 "chronic demyelinizing neuropathy with IgM monoclonal" 0 1 0 0 0 0 -MONDO:0020106 "obsolete hemolytic anemia due to a disorder of glycolytic enzymes" 0 3 0 0 0 0 +MONDO:0020106 "obsolete hemolytic anemia due to a disorder of glycolytic enzymes" 0 2 0 0 0 0 MONDO:0010812 "macrocytosis, familial" 0 3 0 0 0 0 MONDO:0018449 "acquired cystic disease-associated renal cell carcinoma" 1 3 0 0 0 0 GO:0043264 "extracellular non-membrane-bounded organelle" 1 0 0 0 0 1 @@ -32465,7 +32483,7 @@ MONDO:0010121 "thrombocytopenia-absent radius syndrome" 1 11 0 0 0 0 MONDO:0008957 "cervical vertebrae, agenesis of" 0 2 0 0 0 0 MONDO:0004444 "bladder tubulo-cystic clear cell adenocarcinoma" 1 3 0 0 0 0 GO:1903010 "regulation of bone development" 1 0 0 0 0 1 -MONDO:0005180 "Parkinson disease" 1 22 0 0 0 0 +MONDO:0005180 "Parkinson disease" 1 21 0 0 0 0 CHEBI:145795 "digoxin(1-)" 1 0 0 0 0 0 UBERON:0003615 "lung elastic tissue" 0 0 0 0 0 1 MONDO:0003289 "deep leiomyoma" 1 3 0 0 0 0 @@ -32473,7 +32491,7 @@ GO:0098976 "excitatory chemical synaptic transmission" 1 0 0 0 0 1 MONDO:0002160 "obsolete cerebral palsy" 0 0 0 0 0 0 MONDO:0021069 "malignant endocrine neoplasm" 1 7 0 0 0 1 MONDO:0018456 "polyarticular juvenile idiopathic arthritis" 0 3 0 0 0 0 -MONDO:0020453 "congenital partial pulmonary venous return anomaly" 1 4 0 0 0 0 +MONDO:0020453 "congenital partial pulmonary venous return anomaly" 1 3 0 0 0 0 CHEBI:35992 "penams" 1 0 0 0 0 0 MONDO:0100386 "acute myeloid leukemia, t(v;11q23.3)" 1 1 0 0 0 0 http://identifiers.org/hgnc/6522 "LCAT" 0 0 0 0 0 0 @@ -32484,7 +32502,7 @@ CL:0000164 "enteroendocrine cell" 1 2 0 0 0 0 UBERON:0002419 "skin gland" 0 0 0 0 0 1 MONDO:0014255 "complement factor b deficiency" 0 2 0 0 0 0 MONDO:0042971 "congenital herpes virus infection" 1 4 0 0 0 1 -MONDO:0005397 "goiter" 1 8 0 0 0 0 +MONDO:0005397 "goiter" 1 7 0 0 0 0 HP:0011146 "Dialeptic seizure" 1 0 0 0 0 0 MONDO:0024885 "malignant ovarian serous tumor" 1 1 0 0 0 1 GO:0030659 "cytoplasmic vesicle membrane" 1 0 0 0 0 1 @@ -32493,7 +32511,7 @@ MONDO:0003457 "obsolete ovarian serous adenofibroma" 0 0 0 0 0 0 MONDO:0100088 "obsolete late-onset familial alzheimer disease" 0 0 0 0 0 0 GO:2000348 "regulation of CD40 signaling pathway" 1 0 0 0 0 1 MONDO:0017585 "painful orbital and systemic neurofibromas-marfanoid habitus syndrome" 0 3 0 0 0 0 -MONDO:0007896 "acute monocytic leukemia" 1 18 0 0 0 1 +MONDO:0007896 "acute monocytic leukemia" 1 17 0 0 0 1 PO:0000037 "shoot axis apex" 1 1 0 0 0 0 MONDO:0008430 "skeletal dysplasia with delayed epiphyseal and carpal bone ossification" 0 3 0 0 0 0 MONDO:0005026 "endometrioid adenocarcinoma" 1 5 0 0 0 0 @@ -32502,13 +32520,13 @@ MONDO:0100233 "long COVID-19" 1 0 0 0 0 0 http://identifiers.org/hgnc/6556 "LETM1" 0 0 0 0 0 0 GO:1903862 "positive regulation of oxidative phosphorylation" 1 0 0 0 0 1 MONDO:0033557 "hemophagocytic lymphohistiocytosis, familial, 6" 0 1 0 0 0 0 -MONDO:0001351 "uterine adnexa cancer" 0 4 0 0 0 0 +MONDO:0001351 "uterine adnexa cancer" 0 3 0 0 0 0 GO:0004860 "protein kinase inhibitor activity" 1 0 0 0 0 1 GO:0045723 "positive regulation of fatty acid biosynthetic process" 1 0 0 0 0 1 MONDO:0001554 "phacogenic glaucoma" 1 4 0 0 0 0 MONDO:0016925 "partial trisomy/tetrasomy of chromosome 5" 0 1 0 0 0 1 -MONDO:0019882 "distal trisomy 8q" 1 3 0 0 0 0 -MONDO:0006940 "radial nerve lesion" 1 10 0 0 0 1 +MONDO:0019882 "distal trisomy 8q" 1 2 0 0 0 0 +MONDO:0006940 "radial nerve lesion" 1 8 0 0 0 1 MONDO:0015323 "teratogenic Pierre Robin syndrome" 0 2 0 0 0 0 GO:0015136 "sialic acid transmembrane transporter activity" 1 0 0 0 0 0 HP:0030850 "Abnormal pulse pressure" 1 1 0 0 0 0 @@ -32521,7 +32539,7 @@ NCBITaxon:10066 "Muridae" 0 2 0 0 0 0 http://identifiers.org/hgnc/13815 "BCO1" 0 0 0 0 0 0 NCBITaxon:1851469 "Trichosporonales" 0 1 0 0 0 0 UBERON:0004816 "larynx epithelium" 0 0 0 0 0 1 -MONDO:0001329 "accommodative spasm" 0 5 0 0 0 0 +MONDO:0001329 "accommodative spasm" 0 4 0 0 0 0 MONDO:0002227 "ovarian lymphoma" 1 3 0 0 0 1 MONDO:0011282 "tumor suppressor gene on chromosome 11" 0 2 0 0 0 0 UBERON:0002082 "cardiac ventricle" 0 0 0 0 0 0 @@ -32529,7 +32547,7 @@ MONDO:0041114 "peripheral ischemia" 1 1 0 0 0 0 GO:0099523 "presynaptic cytosol" 1 0 0 0 0 1 http://identifiers.org/hgnc/2032 "CLDN1" 0 0 0 0 0 0 http://identifiers.org/hgnc/22986 "COL27A1" 0 0 0 0 0 0 -MONDO:0011374 "hypercholesterolemia, familial, 4" 1 7 0 0 0 0 +MONDO:0011374 "hypercholesterolemia, familial, 4" 1 6 0 0 0 0 MONDO:0017243 "bullous diffuse cutaneous mastocytosis" 1 2 0 0 0 0 MONDO:0004749 "myocardium cancer" 1 6 0 0 0 1 GO:0008652 "cellular amino acid biosynthetic process" 1 0 0 0 0 0 @@ -32548,8 +32566,8 @@ http://identifiers.org/hgnc/24431 "KRT75" 0 0 0 0 0 0 MONDO:0020707 "central hearing loss" 1 1 0 0 0 1 MONDO:0000614 "obsolete estrogen-receptor negative breast cancer" 0 0 0 0 0 0 NCBITaxon:2662056 "Retaria" 0 1 0 0 0 0 -MONDO:0004790 "fatty liver disease" 1 11 0 0 0 1 -MONDO:0002049 "thrombocytopenia" 1 14 0 0 0 0 +MONDO:0004790 "fatty liver disease" 1 10 0 0 0 1 +MONDO:0002049 "thrombocytopenia" 1 13 0 0 0 0 NCIT:C35681 "Negative Test Result" 0 0 0 0 0 0 http://identifiers.org/hgnc/11854 "TSPAN7" 0 0 0 0 0 0 http://identifiers.org/hgnc/4799 "HADH" 0 0 0 0 0 0 @@ -32565,9 +32583,9 @@ UBERON:0001821 "sebaceous gland" 0 0 0 0 0 0 UBERON:0005564 "gonad primordium" 0 0 0 0 0 0 UBERON:0004389 "epiphysis of metatarsal bone" 0 0 0 0 0 1 NBO:0000313 "behavior process" 1 0 0 0 0 0 -MONDO:0001964 "chronic tubotympanic suppurative otitis media" 1 6 0 0 0 0 +MONDO:0001964 "chronic tubotympanic suppurative otitis media" 1 5 0 0 0 0 ECTO:8000000 "exposure to environmental process" 1 0 0 0 0 0 -MONDO:0013755 "PYCR1-related de Barsy syndrome" 1 7 0 0 0 1 +MONDO:0013755 "PYCR1-related de Barsy syndrome" 1 6 0 0 0 1 MONDO:0019319 "verrucous nevus" 1 5 0 0 0 0 MONDO:0016448 "pseudoxanthoma elasticum-like papillary dermal elastolysis" 1 2 0 0 0 0 http://identifiers.org/hgnc/18683 "EIF4A3" 0 0 0 0 0 0 @@ -32576,7 +32594,7 @@ NCBITaxon:7164 "Anopheles " 0 1 0 0 0 0 GO:0030073 "insulin secretion" 1 0 0 0 0 0 GO:0098643 "banded collagen fibril" 1 0 0 0 0 0 GO:0048260 "positive regulation of receptor-mediated endocytosis" 1 0 0 0 0 1 -MONDO:0022673 "autosomal dominant non-nuclear cataract" 0 2 0 0 0 0 +MONDO:0022673 "autosomal dominant non-nuclear cataract" 0 3 0 0 0 0 MONDO:0003585 "adult liposarcoma" 1 3 0 0 0 1 MONDO:0016018 "diabetic embryopathy" 1 6 0 0 0 0 MONDO:0016997 "obsolete hereditary epidermolysis bullosa associated with ocular features" 0 1 0 0 0 0 @@ -32585,6 +32603,7 @@ MONDO:0044700 "SIN3A-related intellectual disability syndrome due to a point mut MONDO:0005591 "pit and fissure surface dental caries" 0 2 0 0 0 0 http://identifiers.org/hgnc/1936 "CHIT1" 0 0 0 0 0 0 MONDO:0007244 "Caffey disease" 1 10 0 0 0 0 +MONDO:0008405 "obsolete scapula, contour of vertebral border of" 0 1 0 0 0 0 NCBITaxon:110618 "Nectriaceae" 0 1 0 0 0 0 NCBITaxon:2605435 "Evosea" 0 1 0 0 0 0 UBERON:0010882 "limb bone pre-cartilage condensation" 0 0 0 0 0 1 @@ -32592,7 +32611,7 @@ MONDO:0014776 "spinocerebellar ataxia type 42" 0 7 0 0 0 0 UBERON:0005113 "metanephric cortex mesenchyme" 0 0 0 0 0 0 GO:0006936 "muscle contraction" 1 0 0 0 0 0 UBERON:0003868 "proximal phalanx of pes" 0 0 0 0 0 1 -MONDO:0011832 "autosomal dominant nonsyndromic hearing loss 44" 1 6 0 0 0 1 +MONDO:0011832 "autosomal dominant nonsyndromic hearing loss 44" 1 5 0 0 0 1 GO:1903564 "regulation of protein localization to cilium" 1 0 0 0 0 1 MONDO:0000929 "balloon cell malignant melanoma" 1 5 0 0 0 0 MONDO:0013675 "multiple mitochondrial dysfunctions syndrome 2" 1 6 0 0 0 1 @@ -32606,17 +32625,17 @@ MONDO:0010559 "MASA syndrome" 1 9 0 0 0 0 MONDO:0021418 "polyp of ethmoidal sinus" 1 4 0 0 0 1 GO:0060785 "regulation of apoptosis involved in tissue homeostasis" 1 0 0 0 0 1 CL:2000001 "peripheral blood mononuclear cell" 1 0 0 0 0 1 -MONDO:0004588 "night blindness" 1 11 0 0 0 0 +MONDO:0004588 "night blindness" 1 10 0 0 0 0 MONDO:0007914 "lumbar stenosis, familial" 0 3 0 0 0 0 MONDO:0005118 "human granulocytic ehrlichiosis" 1 5 0 0 0 1 -MONDO:0004900 "peripheral vertigo" 0 9 0 0 0 0 +MONDO:0004900 "peripheral vertigo" 0 6 0 0 0 0 MONDO:0015891 "obsolete hypogonadotropic hypogonadism associated with other endocrinopathies" 0 1 0 0 0 0 UBERON:0001166 "pylorus" 0 0 0 0 0 1 MONDO:0013149 "hydrops fetalis, nonimmune, with gracile bones and dysmorphic features" 0 3 0 0 0 0 UBERON:0002018 "synovial membrane of synovial joint" 0 0 0 0 0 0 MONDO:0006133 "cervical adenoid cystic carcinoma" 1 5 0 0 0 0 MONDO:0013812 "Baraitser-winter syndrome 2" 1 3 0 0 0 1 -MONDO:0005647 "anogenital human papillomavirus infection" 1 7 0 0 0 0 +MONDO:0005647 "anogenital human papillomavirus infection" 1 6 0 0 0 0 UBERON:0018239 "rhombomere boundary" 0 0 0 0 0 1 GO:0007623 "circadian rhythm" 1 0 0 0 0 0 http://identifiers.org/hgnc/15840 "KMT2B" 0 0 0 0 0 0 @@ -32632,16 +32651,14 @@ UBERON:0001102 "cartilage of main bronchus" 0 0 0 0 0 1 MONDO:0003460 "clear cell adenofibroma" 1 5 0 0 0 0 http://identifiers.org/hgnc/19977 "RDH12" 0 0 0 0 0 0 UBERON:0010413 "parametrial fat pad" 0 0 0 0 0 1 -MONDO:0013263 "retinitis pigmentosa 54" 1 4 0 0 0 1 +MONDO:0013263 "retinitis pigmentosa 54" 1 3 0 0 0 1 UBERON:0001204 "mucosa of small intestine" 0 0 0 0 0 1 GO:0002760 "positive regulation of antimicrobial humoral response" 1 0 0 0 0 1 GO:0100026 "positive regulation of DNA repair by transcription from RNA polymerase II promoter" 1 0 0 0 0 1 UBERON:0010894 "keratinous tooth" 0 0 0 0 0 1 MONDO:0008218 "Hailey-Hailey disease" 1 9 0 0 0 0 -http://identifiers.org/hgnc/11577 "TAZ" 0 0 0 0 0 0 CHEBI:16336 "hyaluronic acid" 1 0 0 0 0 0 -MONDO:0060593 "actn3 deficiency" 0 1 0 0 0 0 -MONDO:0001456 "cobblestone retinal degeneration" 0 5 0 0 0 0 +MONDO:0001456 "cobblestone retinal degeneration" 0 4 0 0 0 0 CHR:9606-chr12q14 "12q14 (Human)" 0 0 0 0 0 0 GO:0019221 "cytokine-mediated signaling pathway" 1 0 0 0 0 0 UBERON:0036352 "wall of subclavian artery" 0 0 0 0 0 1 @@ -32652,7 +32669,7 @@ MONDO:0024520 "renal hypodysplasia/aplasia 3" 0 3 0 0 0 0 MONDO:0021805 "acromesomelic dysplasia, Campailla Martinelli type" 0 3 0 0 0 0 GO:0002538 "arachidonic acid metabolite production involved in inflammatory response" 1 0 0 0 0 0 http://identifiers.org/hgnc/31582 "MIR204" 0 0 0 0 0 0 -MONDO:0001746 "optic disk drusen" 1 6 0 0 0 0 +MONDO:0001746 "optic disk drusen" 1 5 0 0 0 0 MONDO:0003205 "renal pelvis adenocarcinoma" 1 3 0 0 0 1 MONDO:0012518 "congenital myasthenic syndrome 12" 1 4 0 0 0 1 MONDO:0016420 "familial flecked retinopathy" 0 3 0 0 0 0 @@ -32660,7 +32677,7 @@ MONDO:0005855 "molluscum contagiosum" 1 7 0 0 0 0 MONDO:0017277 "partial deletion of chromosome 12" 0 2 0 0 0 1 MONDO:0009620 "Say-Barber-Miller syndrome" 1 6 0 0 0 0 MONDO:0007313 "cheilitis glandularis" 1 7 0 0 0 0 -MONDO:0006608 "seborrheic dermatitis" 1 11 0 0 0 0 +MONDO:0006608 "seborrheic dermatitis" 1 9 0 0 0 0 GO:0071072 "negative regulation of phospholipid biosynthetic process" 1 0 0 0 0 1 http://identifiers.org/hgnc/9153 "PNKD" 0 0 0 0 0 0 MONDO:0013758 "Charcot-Marie-Tooth disease dominant intermediate E" 1 8 0 0 0 0 @@ -32673,29 +32690,28 @@ GO:0030936 "transmembrane collagen trimer" 1 0 0 0 0 1 MONDO:0013686 "distal myopathy, Tateyama type" 1 5 0 0 0 0 MONDO:0021464 "benign neoplasm of cecum" 1 4 0 0 0 1 FOODON:03420127 "animal body or body part"@en 1 0 0 0 0 0 -MONDO:0017006 "X and Y chromosomal anomaly" 0 2 0 0 0 0 MONDO:0006399 "obsolete rhabdoid tumor of the kidney" 0 0 0 0 0 0 UBERON:0007732 "interphalangeal joint of manual digit 5" 0 0 0 0 0 1 MONDO:0008804 "obsolete anus, imperforate" 0 0 0 0 0 0 GO:0044262 "cellular carbohydrate metabolic process" 1 0 0 0 0 0 NCBITaxon:1980416 "Peribunyaviridae" 0 1 0 0 0 0 MONDO:0006929 "Proteus infectious disease" 1 4 0 0 0 1 -MONDO:0009631 "isolated microphthalmia 1" 1 6 0 0 0 0 +MONDO:0009631 "isolated microphthalmia 1" 1 5 0 0 0 0 GO:0060557 "positive regulation of vitamin D biosynthetic process" 1 0 0 0 0 1 UBERON:0009133 "pleuroperitoneal membrane" 0 0 0 0 0 0 CHEBI:55324 "gastrointestinal drug" 1 0 0 0 0 0 MONDO:0017223 "Pelizaeus-Merzbacher disease, transitional form" 1 2 0 0 0 0 UBERON:0005173 "abdominal segment element" 0 0 0 0 0 1 GO:0035082 "axoneme assembly" 1 0 0 0 0 0 -MONDO:0011938 "atrial septal defect 2" 1 6 0 0 0 1 +MONDO:0011938 "atrial septal defect 2" 1 5 0 0 0 1 http://identifiers.org/hgnc/5326 "HYMAI" 0 0 0 0 0 0 UBERON:0011980 "crurotarsal joint" 0 0 0 0 0 1 MONDO:0007140 "obsolete antiphospholipid syndrome" 0 0 0 0 0 0 MONDO:0008946 "cerebral angiopathy, dysphoric" 0 3 0 0 0 0 -MONDO:0024996 "obsolete Usher syndrome, type 2b" 0 1 0 0 0 0 +MONDO:0024996 "obsolete Usher syndrome, type 2b" 0 2 0 0 0 0 MONDO:0013933 "peroxisome biogenesis disorder 5B" 0 5 0 0 0 0 MONDO:0010836 "nanophthalmos 1" 0 4 0 0 0 0 -MONDO:0001979 "dumping syndrome" 1 7 0 0 0 0 +MONDO:0001979 "dumping syndrome" 1 6 0 0 0 0 UBERON:0004992 "mucosa of descending colon" 0 0 0 0 0 1 MONDO:0014205 "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome" 0 4 0 0 0 0 MONDO:0014850 "retinitis pigmentosa and erythrocytic microcytosis" 0 2 0 0 0 0 @@ -32719,13 +32735,13 @@ MONDO:0005038 "obsolete genetic disorder" 0 0 0 0 0 0 MONDO:0001689 "hypertrophy of tongue papillae" 0 5 0 0 0 0 MONDO:0003271 "iodine hypothyroidism" 0 4 0 0 0 0 MONDO:0007158 "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome" 1 7 0 0 0 0 -MONDO:0013377 "isolated microphthalmia 7" 1 5 0 0 0 1 +MONDO:0013377 "isolated microphthalmia 7" 1 4 0 0 0 1 UBERON:0000315 "subarachnoid space" 0 0 0 0 0 1 MONDO:0021088 "papillary meningioma" 1 4 0 0 0 0 MONDO:0015551 "basal epidermolysis bullosa simplex" 1 4 0 0 0 1 UBERON:0005344 "peritoneal vaginal process" 0 0 0 0 0 0 CHEBI:35366 "fatty acid" 1 0 0 0 0 0 -MONDO:0004894 "cyclotropia" 0 5 0 0 0 0 +MONDO:0004894 "cyclotropia" 0 4 0 0 0 0 MONDO:0008887 "bronchiectasis with or without elevated sweat chloride 1" 0 5 0 0 0 0 PO:0025497 "collective plant structure" 1 1 0 0 0 0 HP:0011793 "Neoplasm by anatomical site" 1 1 0 0 0 0 @@ -32739,15 +32755,15 @@ UBERON:0007778 "umbilical artery endothelium" 0 0 0 0 0 1 UBERON:0012283 "femoral fat pad" 0 0 0 0 0 1 UBERON:0002095 "mesentery" 0 0 0 0 0 0 UBERON:0013505 "cervical vertebra cartilage element" 0 0 0 0 0 1 -MONDO:0013370 "long QT syndrome 6" 1 9 0 0 0 1 +MONDO:0013370 "long QT syndrome 6" 1 8 0 0 0 1 MONDO:0005524 "sweat gland carcinoma" 1 7 0 0 0 1 GO:0045165 "cell fate commitment" 1 0 0 0 0 0 -MONDO:0008264 "autosomal dominant medullary cystic kidney disease with or without hyperuricemia" 1 15 0 0 0 0 +MONDO:0008264 "autosomal dominant medullary cystic kidney disease with or without hyperuricemia" 1 14 0 0 0 0 MONDO:0017367 "obsolete kindler syndrome" 0 0 0 0 0 0 CHEBI:29989 "D-glutamate(2-)" 0 0 0 0 0 0 MONDO:0005242 "empyema" 1 5 0 0 0 0 GO:1905880 "negative regulation of oogenesis" 1 0 0 0 0 1 -MONDO:0007803 "multiple system atrophy" 1 11 0 0 0 0 +MONDO:0007803 "multiple system atrophy" 1 10 0 0 0 0 UBERON:0004702 "respiratory system blood vessel endothelium" 0 0 0 0 0 1 UBERON:0001089 "sweat" 0 0 0 0 0 1 UBERON:0004692 "external naris epithelium" 0 0 0 0 0 1 @@ -32757,12 +32773,12 @@ MONDO:0002695 "sagittal sinus thrombosis" 1 4 0 0 0 0 UBERON:0003611 "respiratory system elastic tissue" 0 0 0 0 0 1 NCBITaxon:1868215 "Orthopneumovirus" 0 1 0 0 0 0 MONDO:0004613 "acute intestinal ischemia" 1 5 0 0 0 0 -MONDO:0000708 "Crohn jejunoileitis" 0 2 0 0 0 1 +MONDO:0000708 "Crohn jejunoileitis" 0 1 0 0 0 1 MONDO:0018357 "neonatal antiphospholipid syndrome" 0 3 0 0 0 0 MONDO:0007944 "Treacher-Collins syndrome 1" 1 2 0 0 0 1 MONDO:0033199 "hearing loss, autosomal recessive 107" 0 3 0 0 0 0 -MONDO:0011612 "glycine encephalopathy" 1 10 0 0 0 1 -MONDO:0020076 "myeloproliferative neoplasm" 1 16 0 0 0 1 +MONDO:0011612 "glycine encephalopathy" 1 9 0 0 0 1 +MONDO:0020076 "myeloproliferative neoplasm" 1 15 0 0 0 1 MONDO:0003017 "malignant peritoneal solitary fibrous tumor" 1 1 0 0 0 1 MONDO:0005389 "obsolete sclerosing cholangitis" 0 0 0 0 0 0 MONDO:0016002 "Ehlers-Danlos syndrome, kyphoscoliotic type 1" 1 9 0 0 0 0 @@ -32804,7 +32820,7 @@ MONDO:0024389 "anaerobic bacteria infectious disease" 0 3 0 0 0 0 UBERON:0013761 "cervical cavity" 0 0 0 0 0 1 NCBITaxon:207245 "Fornicata" 0 1 0 0 0 0 MONDO:0024512 "spondyloarthropathy, susceptibility to" 0 2 0 0 0 1 -MONDO:0013372 "long QT syndrome 5" 1 9 0 0 0 1 +MONDO:0013372 "long QT syndrome 5" 1 8 0 0 0 1 UBERON:0010227 "future cardiac atrium" 0 0 0 0 0 0 MONDO:0005210 "uterine corpus sarcoma" 1 10 0 0 0 1 MONDO:0010636 "Kallmann syndrome with spastic paraplegia" 0 3 0 0 0 0 @@ -32821,7 +32837,7 @@ MONDO:0005037 "gastric intestinal type adenocarcinoma" 1 4 0 0 0 1 http://identifiers.org/hgnc/26050 "TMEM70" 0 0 0 0 0 0 GO:0051272 "positive regulation of cellular component movement" 1 0 0 0 0 1 UBERON:0010883 "forelimb cartilage element" 0 0 0 0 0 1 -MONDO:0008464 "split hand-foot malformation 1" 1 7 0 0 0 0 +MONDO:0008464 "split hand-foot malformation 1" 1 6 0 0 0 0 UBERON:0035177 "abdominal part of esophagus" 0 0 0 0 0 0 MONDO:0004512 "meningeal melanomatosis" 1 4 0 0 0 1 MONDO:0004602 "obsolete polymyalgia rheumatica" 0 0 0 0 0 0 @@ -32834,7 +32850,7 @@ MONDO:0032614 "epidermodysplasia verruciformis, susceptibility to, 2" 0 1 0 0 0 MONDO:0003385 "obsolete cervical clear cell adenocarcinoma" 0 0 0 0 0 0 UBERON:0012464 "cloacal vent" 0 0 0 0 0 1 GO:1904000 "positive regulation of eating behavior" 1 0 0 0 0 1 -MONDO:0016875 "partial deletion of chromosome 10" 0 2 0 0 0 1 +MONDO:0016875 "partial deletion of chromosome 10" 0 1 0 0 0 1 MONDO:0008306 "ABri amyloidosis" 1 8 0 0 0 0 MONDO:0005342 "IgA glomerulonephritis" 1 10 0 0 0 0 CHR:9606-chr2p21 "2p21 (Human)" 0 0 0 0 0 0 @@ -32856,7 +32872,7 @@ MONDO:0011087 "inflammatory bowel disease 2" 1 4 0 0 0 0 HP:0000240 "Abnormality of skull size" 1 1 0 0 0 0 http://identifiers.org/hgnc/16628 "SLC49A4" 0 0 0 0 0 0 UBERON:8410030 "lymphatic vessel of appendix" 0 0 0 0 0 1 -MONDO:0005345 "hypospadias" 1 24 0 0 0 0 +MONDO:0005345 "hypospadias" 1 23 0 0 0 0 MONDO:0032598 "developmental and epileptic encephalopathy, 68" 0 1 0 0 0 0 MONDO:0006828 "nasal cavity and paranasal sinus lethal midline granuloma" 1 7 0 0 0 0 HP:0011277 "Abnormality of the urinary system physiology" 0 1 0 0 0 0 @@ -32874,7 +32890,7 @@ MONDO:0011677 "Megarbane syndrome" 0 4 0 0 0 0 MONDO:0010381 "Tn polyagglutination syndrome" 0 4 0 0 0 0 MONDO:0016876 "partial deletion of chromosome 11" 0 2 0 0 0 1 MONDO:0014257 "nephrotic syndrome, type 9" 1 4 0 0 0 1 -MONDO:0015168 "arthrogryposis multiplex congenita" 1 5 0 0 0 0 +MONDO:0015168 "arthrogryposis multiplex congenita" 1 4 0 0 0 0 MONDO:0000923 "interstitial emphysema" 1 6 0 0 0 0 MONDO:0008347 "idiopathic and/or familial pulmonary arterial hypertension" 1 8 0 0 0 0 UBERON:0000055 "vessel" 0 0 0 0 0 0 @@ -32936,7 +32952,7 @@ http://identifiers.org/hgnc/15864 "RBCK1" 0 0 0 0 0 0 UBERON:0014394 "uterine fat pad" 0 0 0 0 0 1 http://identifiers.org/hgnc/16466 "SUFU" 0 0 0 0 0 0 MONDO:0033649 "mitochondrial complex 4 deficiency, nuclear type 14" 0 1 0 0 0 0 -MONDO:0008076 "amyotrophic neuralgia" 1 9 0 0 0 0 +MONDO:0008076 "amyotrophic neuralgia" 1 8 0 0 0 0 MONDO:0100358 "ectodermal dysplasia WNT10A related" 0 0 0 0 0 1 MONDO:0012358 "leprosy, susceptibility to, 1" 0 2 0 0 0 0 HP:0000025 "Functional abnormality of male internal genitalia" 0 1 0 0 0 0 @@ -32971,12 +32987,12 @@ GO:0071705 "nitrogen compound transport" 1 0 0 0 0 0 MONDO:0007623 "flushing of ears and somnolence" 0 2 0 0 0 0 MONDO:0009834 "obsolete pancreatic insufficiency, combined exocrine" 0 0 0 0 0 0 ENVO:01000875 "precipitation process"@en 1 0 0 0 0 0 -MONDO:0002682 "cerebral ventricle cancer" 1 8 0 0 0 1 +MONDO:0002682 "cerebral ventricle cancer" 1 7 0 0 0 1 http://identifiers.org/hgnc/5037 "HNRNPDL" 0 0 0 0 0 0 MONDO:0002553 "cerebellopontine angle tumor" 1 3 0 0 0 1 GO:0099524 "postsynaptic cytosol" 1 0 0 0 0 1 MONDO:0002593 "obsolete thymic carcinoma" 0 0 0 0 0 0 -MONDO:0001273 "megacolon" 1 6 0 0 0 0 +MONDO:0001273 "megacolon" 1 5 0 0 0 0 http://identifiers.org/hgnc/11782 "TH" 0 0 0 0 0 0 MONDO:0012169 "premature ovarian failure 3" 0 3 0 0 0 0 MONDO:0012330 "talo-patello-scaphoid osteolysis" 1 5 0 0 0 0 @@ -32989,7 +33005,7 @@ MONDO:0000826 "obsolete syndromic X-linked intellectual disability Cabezas type" MONDO:0009172 "enterocolitis" 1 8 0 0 0 0 MONDO:0015882 "obsolete rare tumor of pancreas" 1 1 0 0 0 0 CL:0002140 "acinar cell of sebaceous gland" 1 2 0 0 0 1 -MONDO:0018072 "persistent truncus arteriosus" 1 5 0 0 0 0 +MONDO:0018072 "persistent truncus arteriosus" 1 4 0 0 0 0 GO:0030656 "regulation of vitamin metabolic process" 1 0 0 0 0 1 MONDO:0006603 "reactive cutaneous fibrous lesion" 1 4 0 0 0 0 MONDO:0000872 "B-cell childhood acute lymphoblastic leukemia" 1 4 0 0 0 0 @@ -33047,12 +33063,11 @@ ECTO:0000672 "exposure to agonist" 1 0 0 0 0 1 MONDO:0004514 "chronic rhinitis" 1 6 0 0 0 1 MONDO:0020142 "obsolete metabolic disease with dementia" 0 2 0 0 0 0 http://identifiers.org/hgnc/17245 "CPA6" 0 0 0 0 0 0 -MONDO:0003778 "primary immunodeficiency disease" 1 13 0 0 0 0 UBERON:0001285 "nephron" 0 0 0 0 0 0 MONDO:0007098 "ACys amyloidosis" 1 9 0 0 0 0 http://identifiers.org/hgnc/9725 "PYGL" 0 0 0 0 0 0 MONDO:0016995 "familial multiple meningioma" 1 4 0 0 0 0 -MONDO:0044137 "vitreous body disorder" 1 5 0 0 0 1 +MONDO:0044137 "vitreous body disorder" 1 6 0 0 0 1 http://identifiers.org/hgnc/9726 "PYGM" 0 0 0 0 0 0 GO:0010678 "negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-templated" 1 0 0 0 0 1 CHEBI:26666 "short-chain fatty acid" 1 0 0 0 0 0 @@ -33062,7 +33077,7 @@ MONDO:0005398 "upper aerodigestive tract neoplasm" 1 3 0 0 0 0 MONDO:0044253 "obsolete dermatoglyphics--palmar triradius d, absence of" 0 1 0 0 0 0 MONDO:0012970 "microvascular complications of diabetes, susceptibility to, 6" 1 1 0 0 0 1 MONDO:0012971 "microvascular complications of diabetes, susceptibility to, 7" 1 1 0 0 0 1 -MONDO:0000265 "aspiration pneumonia" 1 7 0 0 0 0 +MONDO:0000265 "aspiration pneumonia" 1 6 0 0 0 0 MONDO:0003520 "obsolete malignant acrospiroma" 0 0 0 0 0 0 GO:0002883 "regulation of hypersensitivity" 1 0 0 0 0 1 MONDO:0010154 "trigonocephaly-bifid nose-acral anomalies syndrome" 1 7 0 0 0 0 @@ -33071,7 +33086,7 @@ UBERON:0007602 "stratified columnar epithelium" 0 0 0 0 0 0 MONDO:0100011 "tendinosis" 1 1 0 0 0 0 MONDO:0007931 "vitelliform macular dystrophy 2" 1 7 0 0 0 1 MONDO:0019255 "sphingolipidosis" 1 12 0 0 0 1 -MONDO:0012105 "granulomatosis with polyangiitis" 1 14 0 0 0 0 +MONDO:0012105 "granulomatosis with polyangiitis" 1 13 0 0 0 0 GO:0010243 "response to organonitrogen compound" 1 0 0 0 0 0 MONDO:0019926 "X small rings" 1 3 0 0 0 1 NCBITaxon:117571 "Euteleostomi" 0 1 0 0 0 0 @@ -33081,9 +33096,9 @@ http://identifiers.org/hgnc/1382 "CA8" 0 0 0 0 0 0 MONDO:0002167 "rectum malignant melanoma" 1 4 0 0 0 1 MONDO:0012426 "immunodeficiency 25" 1 5 0 0 0 1 ENVO:01000739 "habitat"@en 1 0 0 0 0 0 -MONDO:0023679 "hematohidrosis" 1 5 0 0 0 0 +MONDO:0023679 "hematohidrosis" 1 4 0 0 0 0 UBERON:0001968 "semen" 0 0 0 0 0 0 -MONDO:0003001 "seminoma" 1 10 0 0 0 0 +MONDO:0003001 "seminoma" 1 9 0 0 0 0 GO:0006366 "transcription by RNA polymerase II" 1 0 0 0 0 0 MONDO:0010869 "motor neuron disease with dementia and ophthalmoplegia" 0 3 0 0 0 0 UBERON:0001304 "germinal epithelium of ovary" 0 0 0 0 0 1 @@ -33094,7 +33109,6 @@ GO:0006493 "protein O-linked glycosylation" 1 0 0 0 0 0 CL:0000047 "neuronal stem cell" 1 3 0 0 0 1 MONDO:0004563 "physiological polycythemia" 1 3 0 0 0 0 UBERON:0014792 "musculature of pelvic complex" 0 0 0 0 0 1 -http://identifiers.org/hgnc/12910 "MKRN3-AS1" 0 0 0 0 0 0 MONDO:0018059 "meningococcal meningitis" 1 12 0 0 0 0 MONDO:0020791 "corneal dystrophy, Meesmann, 1" 0 1 0 0 0 0 UBERON:0036217 "coelomic fluid" 0 0 0 0 0 1 @@ -33111,22 +33125,22 @@ UBERON:0002198 "neurohypophysis" 0 0 0 0 0 0 MONDO:0012914 "chromosome 1q21.1 deletion syndrome" 1 7 0 0 0 1 MONDO:0007723 "Hirschsprung disease, susceptibility to, 1" 1 3 0 0 0 1 MONDO:0019484 "hypothalamic hamartomas with gelastic seizures" 1 2 0 0 0 0 -MONDO:0012002 "autosomal recessive nonsyndromic hearing loss 40" 1 6 0 0 0 0 +MONDO:0012002 "autosomal recessive nonsyndromic hearing loss 40" 1 5 0 0 0 0 MONDO:0007891 "familial generalized lentiginosis" 1 7 0 0 0 0 http://identifiers.org/hgnc/7326 "MSH3" 0 0 0 0 0 0 MONDO:0060688 "hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency" 0 2 0 0 0 0 MONDO:0020140 "obsolete late-onset ataxia with dementia" 0 1 0 0 0 0 HP:0005832 "Dysharmonic delayed bone age" 1 1 0 0 0 0 CHEBI:37134 "elemental barium" 0 0 0 0 0 0 -MONDO:0017778 "lamellar ichthyosis" 1 13 0 0 0 0 -MONDO:0007245 "cafe au lait spots, multiple" 1 8 0 0 0 0 +MONDO:0017778 "lamellar ichthyosis" 1 12 0 0 0 0 +MONDO:0007245 "cafe au lait spots, multiple" 1 7 0 0 0 0 MONDO:0006480 "undifferentiated pleomorphic sarcoma, inflammatory variant" 1 4 0 0 0 0 MONDO:0002065 "benign breast adenomyoepithelioma" 1 3 0 0 0 1 MONDO:0006937 "pulpitis" 1 9 0 0 0 1 NCBITaxon:34105 "Streptobacillus moniliformis" 0 3 0 0 0 0 MONDO:0018526 "obsolete serous cystadenocarcinoma of pancreas" 0 0 0 0 0 0 MONDO:0018651 "obsolete lipoyl transferase 2 deficiency" 0 1 0 0 0 0 -MONDO:0008546 "thanatophoric dysplasia type 1" 1 9 0 0 0 0 +MONDO:0008546 "thanatophoric dysplasia type 1" 1 10 0 0 0 0 MONDO:0001560 "hypertrophic pyloric stenosis" 1 7 0 0 0 0 MONDO:0003450 "eccrine papillary adenoma" 1 6 0 0 0 1 HP:0031365 "Macular purpura" 1 0 0 0 0 0 @@ -33178,6 +33192,7 @@ FOODON:03411433 "shellfish"@en 1 0 0 0 0 0 MONDO:0020793 "oculopharyngodistal myopathy 1" 0 1 0 0 0 0 UBERON:0007418 "neural decussation" 0 0 0 0 0 0 MONDO:0018487 "autosomal recessive severe congenital neutropenia due to CXCR2 deficiency" 0 2 0 0 0 1 +MONDO:0009553 "obsolete Plasmodium falciparum blood infection level" 0 1 0 0 0 0 MONDO:0015123 "obsolete rare inherited dyslipidemia" 1 1 0 0 0 0 MONDO:0020071 "infantile epilepsy syndrome" 1 3 0 0 0 1 GO:0014848 "urinary tract smooth muscle contraction" 1 0 0 0 0 0 @@ -33197,17 +33212,17 @@ UBERON:0012358 "manual digitopodium bone" 0 0 0 0 0 1 MONDO:0008917 "heart defects-limb shortening syndrome" 1 7 0 0 0 0 MONDO:0005801 "human T-lymphotropic virus 1 infectious disease" 1 4 0 0 0 1 UBERON:0001071 "superficial cervical artery" 0 0 0 0 0 1 -MONDO:0004983 "azoospermia" 1 26 0 0 0 0 +MONDO:0004983 "azoospermia" 1 24 0 0 0 0 CHEBI:22333 "alkylating agent" 1 0 0 0 0 0 HP:0001889 "Megaloblastic anemia" 1 3 0 0 0 0 UBERON:0001549 "dorsal metatarsal vein" 0 0 0 0 0 1 http://identifiers.org/hgnc/6930 "MC2R" 0 0 0 0 0 0 -MONDO:0019976 "dementia pugilistica" 1 5 0 0 0 0 +MONDO:0019976 "dementia pugilistica" 1 4 0 0 0 0 UBERON:0001281 "hepatic sinusoid" 0 0 0 0 0 1 MONDO:0018240 "TRPV4-related bone disorder" 0 2 0 0 0 0 -MONDO:0005231 "hepatitis C virus infection" 1 12 0 0 0 1 +MONDO:0005231 "hepatitis C virus infection" 1 10 0 0 0 1 MONDO:0002617 "bone angiosarcoma" 1 3 0 0 0 1 -MONDO:0001543 "lesion of sciatic nerve" 1 8 0 0 0 1 +MONDO:0001543 "lesion of sciatic nerve" 1 7 0 0 0 1 MONDO:0014281 "cholangiocarcinoma, susceptibility to" 0 2 0 0 0 0 MONDO:0000523 "obsolete conjunctival nevus" 0 0 0 0 0 0 MONDO:0006926 "haemophilus infectious disease" 1 4 0 0 0 1 @@ -33298,11 +33313,11 @@ http://identifiers.org/hgnc/20665 "SCN3B" 0 0 0 0 0 0 UBERON:0037455 "wall of female urethra" 0 0 0 0 0 1 ENVO:01001698 "polar front"@en 1 0 0 0 0 0 HP:0002648 "Abnormality of calvarial morphology" 1 2 0 0 0 0 -MONDO:0005815 "pancreatic neuroendocrine neoplasm" 1 9 0 0 0 1 +MONDO:0005815 "pancreatic neuroendocrine neoplasm" 1 8 0 0 0 1 MONDO:0100481 "active tuberculosis" 1 0 0 0 0 0 http://identifiers.org/hgnc/1232 "EGLN1" 0 0 0 0 0 0 HP:0000201 "Pierre-Robin sequence" 1 3 0 0 0 0 -MONDO:0007603 "Felty syndrome" 1 13 0 0 0 0 +MONDO:0007603 "Felty syndrome" 1 12 0 0 0 0 UBERON:0007844 "cartilage element" 0 0 0 0 0 1 MONDO:0004049 "combat disorder" 1 4 0 0 0 0 MONDO:0009458 "Schimke immuno-osseous dysplasia" 1 10 0 0 0 0 @@ -33327,7 +33342,7 @@ MONDO:0012310 "fibrosis of extraocular muscles, congenital, with synergistic div MONDO:0011733 "parasomnia, sleep bruxism type" 0 3 0 0 0 0 UBERON:0001464 "hip" 0 0 0 0 0 0 UBERON:0004000 "tarsal gland acinus" 0 0 0 0 0 1 -MONDO:0009571 "Meckel syndrome, type 1" 1 6 0 0 0 1 +MONDO:0009571 "Meckel syndrome, type 1" 1 5 0 0 0 1 MONDO:0009165 "Aicardi-Goutieres syndrome 1" 1 4 0 0 0 1 MONDO:0019127 "polymyositis" 1 11 0 0 0 0 HP:0010927 "Abnormal blood inorganic cation concentration" 1 1 0 0 0 0 @@ -33373,15 +33388,15 @@ MONDO:0008048 "autosomal dominant centronuclear myopathy" 1 9 0 0 0 1 MONDO:0001514 "prolapse of urethra" 1 7 0 0 0 0 MONDO:0006414 "skin sarcoma" 1 4 0 0 0 1 MONDO:0003545 "intradural extramedullary spinal canal neoplasm" 1 3 0 0 0 0 -MONDO:0012293 "autosomal recessive nonsyndromic hearing loss 23" 1 6 0 0 0 1 +MONDO:0012293 "autosomal recessive nonsyndromic hearing loss 23" 1 5 0 0 0 1 MONDO:0014194 "mitochondrial complex III deficiency nuclear type 6" 1 4 0 0 0 1 -MONDO:0010522 "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2" 1 6 0 0 0 0 +MONDO:0010522 "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2" 1 5 0 0 0 0 MONDO:0009233 "Fibulo-ulnar hypoplasia-renal anomalies syndrome" 1 7 0 0 0 0 MONDO:0018033 "obsolete other immunodeficiency syndromes due to defects in innate immunity" 0 2 0 0 0 0 MONDO:0044913 "metastatic malignant neoplasm in the eye" 1 3 0 0 0 1 -MONDO:0007761 "hyperlipoproteinemia type IV" 1 11 0 0 0 0 +MONDO:0007761 "hyperlipoproteinemia type IV" 1 10 0 0 0 0 http://identifiers.org/hgnc/11109 "SMARCE1" 0 0 0 0 0 0 -MONDO:0001298 "congenital mitral valve insufficiency" 1 8 0 0 0 1 +MONDO:0001298 "congenital mitral valve insufficiency" 1 7 0 0 0 1 UBERON:0009912 "anatomical lobe" 0 0 0 0 0 0 MONDO:0044332 "childhood-onset benign chorea with striatal involvement" 0 1 0 0 0 0 MONDO:0021221 "vestibulocochlear nerve neoplasm" 1 3 0 0 0 1 @@ -33396,13 +33411,13 @@ GO:0002430 "complement receptor mediated signaling pathway" 1 0 0 0 0 0 MONDO:0004448 "frontal sinus inverted papilloma" 1 3 0 0 0 1 NCBITaxon:122277 "Pectobacterium" 0 3 0 0 0 0 http://identifiers.org/hgnc/11634 "TCF4" 0 0 0 0 0 0 -MONDO:0019780 "anotia" 1 7 0 0 0 0 +MONDO:0019780 "anotia" 1 5 0 0 0 0 MONDO:0014983 "congenital myasthenic syndrome 21" 1 3 0 0 0 1 MONDO:0023212 "Garret-Tripp syndrome" 0 3 0 0 0 0 UBERON:0035091 "extrinsic post-anal tail muscle" 0 0 0 0 0 1 MONDO:0000077 "obsolete nystagmus" 0 0 0 0 0 0 MONDO:0015908 "chromomycosis" 1 15 0 0 0 0 -MONDO:0015304 "arachnoiditis" 1 12 0 0 0 1 +MONDO:0015304 "arachnoiditis" 1 11 0 0 0 1 MONDO:0000482 "focal hand dystonia" 1 5 0 0 0 0 http://identifiers.org/hgnc/93 "ACAT1" 0 0 0 0 0 0 CHR:9606-chr7q31 "7q31 (Human)" 0 0 0 0 0 0 @@ -33410,10 +33425,10 @@ UBERON:0002804 "left limbic lobe" 0 0 0 0 0 1 MONDO:0002405 "hepatic vascular disorder" 1 5 0 0 0 1 http://identifiers.org/hgnc/37276 "CRPPA" 0 0 0 0 0 0 GO:0060097 "cytoskeletal rearrangement involved in phagocytosis, engulfment" 1 0 0 0 0 1 -MONDO:0004883 "hereditary choroidal atrophy" 0 7 0 0 0 0 +MONDO:0004883 "hereditary choroidal atrophy" 0 5 0 0 0 0 MONDO:0001424 "sarcoid meningitis" 1 5 0 0 0 0 -MONDO:0000744 "lung abscess" 1 9 0 0 0 0 -MONDO:0001801 "staphyloma posticum" 0 5 0 0 0 0 +MONDO:0000744 "lung abscess" 1 8 0 0 0 0 +MONDO:0001801 "staphyloma posticum" 0 4 0 0 0 0 http://identifiers.org/hgnc/5344 "ICAM1" 0 0 0 0 0 0 MONDO:0013566 "Fanconi anemia complementation group L" 1 2 0 0 0 1 CHEBI:33249 "organyl group" 1 0 0 0 0 0 @@ -33431,10 +33446,10 @@ GO:0090155 "negative regulation of sphingolipid biosynthetic process" 1 0 0 0 0 MONDO:0013517 "beta-thalassemia HBB/LCRB" 1 5 0 0 0 0 UBERON:0004275 "third ventricle choroid plexus epithelium" 0 0 0 0 0 1 MONDO:0003846 "viral esophagitis" 1 4 0 0 0 1 -MONDO:0008903 "lung cancer" 1 19 0 0 0 1 +MONDO:0008903 "lung cancer" 1 16 0 0 0 1 UBERON:0000173 "amniotic fluid" 0 0 0 0 0 0 UBERON:0001186 "left renal artery" 0 0 0 0 0 1 -MONDO:0004781 "acute myocardial infarction" 1 15 0 0 0 1 +MONDO:0004781 "acute myocardial infarction" 1 14 0 0 0 1 http://identifiers.org/hgnc/11633 "TCF3" 0 0 0 0 0 0 GO:0050668 "positive regulation of homocysteine metabolic process" 1 0 0 0 0 1 MONDO:0005518 "pseudohermaphroditism" 1 10 0 0 0 0 @@ -33454,7 +33469,7 @@ MONDO:0008199 "late-onset Parkinson disease" 1 13 0 0 0 1 MONDO:0016197 "qualitative or quantitative defects of selenoprotein N1" 0 1 0 0 0 0 MONDO:0009972 "respiratory underresponsiveness to hypoxia and hypercapnia" 0 2 0 0 0 0 MONDO:0019807 "mesocardia" 0 5 0 0 0 0 -MONDO:0012603 "episodic kinesigenic dyskinesia 2" 1 6 0 0 0 0 +MONDO:0012603 "episodic kinesigenic dyskinesia 2" 1 5 0 0 0 0 MONDO:0006918 "posterior uveitis" 1 10 0 0 0 1 MONDO:0011978 "CoQ-responsive OXPHOS deficiency" 0 4 0 0 0 0 NCBITaxon:38323 "Bartonella henselae" 0 3 0 0 0 0 @@ -33463,7 +33478,7 @@ UBERON:0005001 "mucosa of common hepatic duct" 0 0 0 0 0 1 MONDO:0014475 "spinocerebellar ataxia type 40" 1 10 0 0 0 0 http://identifiers.org/hgnc/16171 "CHMP4B" 0 0 0 0 0 0 MONDO:0033201 "hearing loss, autosomal recessive 57" 0 3 0 0 0 0 -MONDO:0002042 "mechanical ectropion" 1 5 0 0 0 0 +MONDO:0002042 "mechanical ectropion" 1 4 0 0 0 0 ENVO:01001122 "gas planet"@en 1 0 0 0 0 1 MONDO:0042451 "endomyometritis" 1 1 0 0 0 1 MONDO:0001545 "obsolete von willebrand disease" 0 0 0 0 0 0 @@ -33476,7 +33491,7 @@ GO:0051053 "negative regulation of DNA metabolic process" 1 0 0 0 0 1 HP:0004338 "Abnormal circulating aromatic amino acid concentration" 1 1 0 0 0 0 MONDO:0014606 "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome" 1 4 0 0 0 0 GO:1903522 "regulation of blood circulation" 1 0 0 0 0 1 -MONDO:0003608 "optic atrophy" 1 11 0 0 0 0 +MONDO:0003608 "optic atrophy" 1 10 0 0 0 0 MONDO:0004410 "sarcomatoid penile squamous cell carcinoma" 1 3 0 0 0 1 MONDO:0014823 "hypotonia, infantile, with psychomotor retardation and characteristic facies 3" 1 3 0 0 0 0 MONDO:0005427 "obsolete vasuclar dementia" 0 0 0 0 0 0 @@ -33486,7 +33501,7 @@ UBERON:0003259 "endoderm of midgut" 0 0 0 0 0 1 http://identifiers.org/hgnc/20858 "SLC39A14" 0 0 0 0 0 0 http://identifiers.org/hgnc/20859 "SLC39A13" 0 0 0 0 0 0 MONDO:0015493 "lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy" 0 1 0 0 0 0 -MONDO:0002908 "glucose metabolism disease" 1 6 0 0 0 1 +MONDO:0002908 "glucose metabolism disease" 1 7 0 0 0 1 MONDO:0022875 "cortada Koussef Matsumoto syndrome" 0 1 0 0 0 0 CL:1000332 "serous cell of epithelium of terminal bronchiole" 1 1 0 0 0 1 MONDO:0017584 "Sagliker syndrome" 1 2 0 0 0 0 @@ -33495,11 +33510,11 @@ HP:0011461 "Fetal onset" 1 1 0 0 0 0 http://identifiers.org/hgnc/27424 "RBM20" 0 0 0 0 0 0 http://identifiers.org/hgnc/10535 "SAR1B" 0 0 0 0 0 0 CHEBI:2679 "amphetamine" 1 0 0 0 0 0 -MONDO:0019341 "tuberous sclerosis complex" 1 7 0 0 0 0 +MONDO:0019341 "tuberous sclerosis complex" 1 6 0 0 0 0 HsapDv:0000090 "25-44 year-old human stage" 1 0 0 0 0 0 HP:0000035 "Abnormal testis morphology" 1 2 0 0 0 0 MONDO:0016130 "fungal myositis" 0 4 0 0 0 1 -MONDO:0005311 "atherosclerosis" 1 10 0 0 0 0 +MONDO:0005311 "atherosclerosis" 1 9 0 0 0 0 MONDO:0002075 "spontaneous tension pneumothorax" 0 5 0 0 0 0 MONDO:0020472 "Turner syndrome due to structural X chromosome anomalies" 0 4 0 0 0 0 http://identifiers.org/hgnc/12816 "XPC" 0 0 0 0 0 0 @@ -33512,7 +33527,7 @@ http://identifiers.org/hgnc/18248 "ELP2" 0 0 0 0 0 0 MONDO:0013565 "Fanconi anemia complementation group G" 1 4 0 0 0 0 MONDO:0000867 "obsolete multiple pterygium syndrome" 0 0 0 0 0 0 MONDO:0012455 "Kleefstra syndrome" 1 6 0 0 0 0 -MONDO:0003916 "overnutrition" 1 5 0 0 0 0 +MONDO:0003916 "overnutrition" 1 6 0 0 0 0 MONDO:0019194 "localized lipodystrophy" 1 6 0 0 0 0 MONDO:0005642 "atopic conjunctivitis" 1 7 0 0 0 1 MONDO:0013598 "myostatin-related muscle hypertrophy" 1 8 0 0 0 0 @@ -33521,6 +33536,7 @@ MONDO:0007439 "deoxyribose-5-phosphate aldolase deficiency" 0 3 0 0 0 0 MONDO:0001733 "occlusion of tributary of retinal vein" 0 2 0 0 0 1 MONDO:0007129 "tooth agenesis, selective, 1" 1 2 0 0 0 1 UBERON:0015145 "pes hair" 0 0 0 0 0 1 +MONDO:0014053 "obsolete stomatin-like protein-2, hyperphosphorylation of" 0 1 0 0 0 0 ENVO:01000997 "environmental system determined by a quality"@en 1 0 0 0 0 1 GO:0006508 "proteolysis" 1 0 0 0 0 0 MONDO:0014351 "pontocerebellar hypoplasia type 9" 1 5 0 0 0 1 @@ -33548,13 +33564,13 @@ http://identifiers.org/hgnc/4553 "GPX1" 0 0 0 0 0 0 UBERON:0006002 "vitelline artery" 0 0 0 0 0 1 MONDO:0015973 "obsolete rare genetic coagulation disorder" 0 0 0 0 0 0 MONDO:0021702 "alcohol amnestic disorder" 1 3 0 0 0 1 -MONDO:0012367 "retinitis pigmentosa 31" 1 6 0 0 0 1 -MONDO:0001143 "paralytic strabismus" 0 8 0 0 0 0 +MONDO:0012367 "retinitis pigmentosa 31" 1 5 0 0 0 1 +MONDO:0001143 "paralytic strabismus" 0 6 0 0 0 0 MONDO:0011094 "dilated cardiomyopathy 1C" 1 7 0 0 0 0 ECTO:7000045 "exposure to stellar radiation" 1 0 0 0 0 0 MONDO:0100219 "growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant" 0 1 0 0 0 0 http://identifiers.org/hgnc/25133 "MARS2" 0 0 0 0 0 0 -MONDO:0003900 "connective tissue disorder" 1 5 0 0 0 0 +MONDO:0003900 "connective tissue disorder" 1 10 0 0 0 0 http://identifiers.org/hgnc/30939 "ZFHX4" 0 0 0 0 0 0 MONDO:0006112 "bladder inflammatory myofibroblastic tumor" 1 4 0 0 0 1 MONDO:0018989 "recurrent acute pancreatitis" 1 10 0 0 0 0 @@ -33562,7 +33578,7 @@ UBERON:0003840 "hindlimb joint" 0 0 0 0 0 1 CL:0000075 "columnar/cuboidal epithelial cell" 1 0 0 0 0 0 MONDO:0011359 "acromelic frontonasal dysostosis" 1 9 0 0 0 0 MONDO:0015632 "FASTKD2-related infantile mitochondrial encephalomyopathy" 0 2 0 0 0 0 -MONDO:0011688 "muscular dystrophy-dystroglycanopathy type B5" 1 9 0 0 0 0 +MONDO:0011688 "muscular dystrophy-dystroglycanopathy type B5" 1 8 0 0 0 0 MONDO:0006083 "obsolete anaplastic large cell lymphoma, ALK-negative" 0 0 0 0 0 0 PATO:0002007 "convex 3-D shape" 1 0 0 0 0 0 MONDO:0006821 "kidney papillary necrosis" 1 7 0 0 0 0 @@ -33577,7 +33593,6 @@ ENVO:01001682 "air mass"@en 1 0 0 0 0 1 MONDO:0010670 "X-linked intellectual disability-spastic quadriparesis syndrome" 0 4 0 0 0 0 MONDO:0022800 "type 2 collagenopathy" 1 6 0 0 0 1 MONDO:0032820 "neurodevelopmental disorder with structural brain anomalies and dysmorphic facies" 0 1 0 0 0 0 -MONDO:0016999 "X chromosome number anomaly" 0 1 0 0 0 0 MONDO:0020674 "vascular insufficiency disorder" 0 1 0 0 0 0 http://identifiers.org/hgnc/1142 "BTNL2" 0 0 0 0 0 0 MONDO:0023204 "Fukuda-Miyanomae-Nakata syndrome" 0 6 0 0 0 0 @@ -33588,15 +33603,14 @@ http://identifiers.org/hgnc/7983 "NR5A1" 0 0 0 0 0 0 MONDO:0005444 "obsolete leishmaniasis" 0 0 0 0 0 0 ENVO:01001155 "astrogeological gas"@en 1 0 0 0 0 0 MONDO:0011395 "cone-rod dystrophy 3" 1 5 0 0 0 1 -MONDO:0001766 "eversion of lacrimal punctum" 0 5 0 0 0 0 +MONDO:0001766 "eversion of lacrimal punctum" 0 4 0 0 0 0 SO:0000298 "recombination_feature" 1 0 0 0 0 0 MONDO:0013693 "inflammatory skin and bowel disease, neonatal, 1" 1 3 0 0 0 1 MONDO:0008247 "robin sequence-oligodactyly syndrome" 1 6 0 0 0 0 MONDO:0001861 "malignant parietal pleura tumor" 0 3 0 0 0 0 GO:1903059 "regulation of protein lipidation" 1 0 0 0 0 1 -MONDO:0001198 "acquired thrombocytopenia" 1 5 0 0 0 1 +MONDO:0001198 "acquired thrombocytopenia" 1 4 0 0 0 1 CHEBI:27207 "univalent carboacyl group" 1 0 0 0 0 0 -MONDO:0009125 "dopamine beta-hydroxylase, plasma, thermolability of" 0 1 0 0 0 0 HP:0001384 "Abnormal hip joint morphology" 1 1 0 0 0 0 MONDO:0022825 "congenital cystic eye" 0 2 0 0 0 0 MONDO:0005701 "chlamydia trachomatis infectious disease" 1 7 0 0 0 1 @@ -33613,7 +33627,7 @@ http://identifiers.org/hgnc/4428 "GOLGA5" 0 0 0 0 0 0 MONDO:0016442 "elastoma" 0 4 0 0 0 0 MONDO:0015369 "Joubert syndrome and related disorders" 1 2 0 0 0 0 MONDO:0006001 "urinary schistosomiasis" 1 8 0 0 0 1 -MONDO:0012363 "retinitis pigmentosa 32" 1 6 0 0 0 0 +MONDO:0012363 "retinitis pigmentosa 32" 1 5 0 0 0 0 GO:0033085 "negative regulation of T cell differentiation in thymus" 1 0 0 0 0 1 MONDO:0018129 "autosomal recessive cerebellar ataxia with late-onset spasticity" 1 4 0 0 0 0 CHEBI:33482 "sulfur oxoanion" 0 0 0 0 0 0 @@ -33627,7 +33641,7 @@ MONDO:0008714 "acrofacial dysostosis Rodriguez type" 1 8 0 0 0 0 http://identifiers.org/hgnc/30262 "PYCR2" 0 0 0 0 0 0 UBERON:0003857 "upper eyelid mesenchyme" 0 0 0 0 0 1 UBERON:0007198 "hermaphrodite anatomical structure" 0 0 0 0 0 1 -MONDO:0002688 "duodenal obstruction" 1 7 0 0 0 0 +MONDO:0002688 "duodenal obstruction" 1 6 0 0 0 0 HP:0001394 "Cirrhosis" 1 3 0 0 0 0 MONDO:0002128 "mononeuritis multiplex" 1 7 0 0 0 0 http://identifiers.org/hgnc/30242 "TUSC3" 0 0 0 0 0 0 @@ -33644,10 +33658,10 @@ UBERON:0010230 "eyeball of camera-type eye" 0 0 0 0 0 0 http://identifiers.org/hgnc/1373 "CA2" 0 0 0 0 0 0 UBERON:0004905 "articulation" 0 0 0 0 0 0 UBERON:0004445 "proximal epiphysis of proximal phalanx of manual digit 1" 0 0 0 0 0 1 -MONDO:0013365 "autosomal recessive nonsyndromic hearing loss 83" 1 3 0 0 0 0 +MONDO:0013365 "autosomal recessive nonsyndromic hearing loss 83" 1 2 0 0 0 0 UBERON:0003292 "meninx of spinal cord" 0 0 0 0 0 1 MONDO:0024500 "duodenal neuroendocrine neoplasm" 1 0 0 0 0 1 -MONDO:0004750 "language disorder" 1 6 0 0 0 0 +MONDO:0004750 "language disorder" 1 5 0 0 0 0 MONDO:0010150 "head and neck squamous cell carcinoma" 1 10 0 0 0 1 CHEBI:23114 "chloride salt" 0 0 0 0 0 0 NCBITaxon:848 "Fusobacterium" 0 3 0 0 0 0 @@ -33668,24 +33682,24 @@ UBERON:0015458 "mediastinal fat pad" 0 0 0 0 0 1 CL:0012001 "neuron of the forebrain" 1 0 0 0 0 1 MONDO:0012584 "systemic lupus erythematosus, susceptibility to, 9" 1 1 0 0 0 1 MONDO:0007127 "diffuse idiopathic skeletal hyperostosis" 1 12 0 0 0 0 -MONDO:0013119 "autosomal recessive nonsyndromic hearing loss 77" 1 5 0 0 0 1 +MONDO:0013119 "autosomal recessive nonsyndromic hearing loss 77" 1 4 0 0 0 1 UBERON:0003329 "submucosa of anal canal" 0 0 0 0 0 1 MONDO:0016725 "pineal parenchymal tumor of intermediate differenciation" 1 3 0 0 0 0 -MONDO:0004796 "infectious meningitis" 1 13 0 0 0 1 +MONDO:0004796 "infectious meningitis" 1 11 0 0 0 1 UBERON:0010160 "lumen of lymphatic vessel" 0 0 0 0 0 1 GO:0045901 "positive regulation of translational elongation" 1 0 0 0 0 1 MONDO:0007299 "Sotos syndrome 1" 1 5 0 0 0 1 GO:0006560 "proline metabolic process" 1 0 0 0 0 0 http://identifiers.org/hgnc/94 "ACAT2" 0 0 0 0 0 0 -MONDO:0005960 "silicosis" 1 10 0 0 0 1 +MONDO:0005960 "silicosis" 1 8 0 0 0 1 MONDO:0011095 "dilated cardiomyopathy 1D" 1 7 0 0 0 1 MONDO:0009273 "hydatidiform mole, recurrent, 1" 1 4 0 0 0 1 -MONDO:0006602 "porokeratosis" 1 17 0 0 0 0 +MONDO:0006602 "porokeratosis" 1 16 0 0 0 0 UBERON:0004443 "proximal epiphysis of proximal phalanx of manual digit 5" 0 0 0 0 0 1 HP:0005508 "Monoclonal immunoglobulin M proteinemia" 1 5 0 0 0 0 -MONDO:0005062 "lymphoma" 1 19 0 0 0 0 +MONDO:0005062 "lymphoma" 1 18 0 0 0 0 GO:0043400 "cortisol secretion" 1 0 0 0 0 0 -MONDO:0017690 "disorder of galactose metabolism" 0 4 0 0 0 1 +MONDO:0017690 "disorder of galactose metabolism" 0 3 0 0 0 1 MONDO:0006403 "salivary gland carcinoma ex pleomorphic adenoma" 1 4 0 0 0 1 UBERON:0001325 "muscle of pelvis" 0 0 0 0 0 0 MONDO:0000698 "gamma-amino butyric acid metabolism disorder" 1 1 0 0 0 1 @@ -33694,7 +33708,7 @@ http://identifiers.org/hgnc/30100 "PSENEN" 0 0 0 0 0 0 CHEBI:64416 "EC 1.3.1.43 (arogenate dehydrogenase) inhibitor" 1 0 0 0 0 0 MONDO:0017795 "ameloblastoma" 1 11 0 0 0 0 MONDO:0006796 "hypertensive encephalopathy" 1 9 0 0 0 1 -MONDO:0001312 "acute serous otitis media" 1 6 0 0 0 0 +MONDO:0001312 "acute serous otitis media" 1 5 0 0 0 0 UBERON:0000398 "cartilage tissue of sternum" 0 0 0 0 0 1 GO:0099503 "secretory vesicle" 1 0 0 0 0 0 http://identifiers.org/hgnc/11521 "TAC3" 0 0 0 0 0 0 @@ -33707,7 +33721,7 @@ GO:0009894 "regulation of catabolic process" 1 0 0 0 0 1 MONDO:0022205 "pustular psoriasis" 0 5 0 0 0 0 MONDO:0001562 "displacement of cardia through esophageal hiatus" 0 4 0 0 0 0 MONDO:0013889 "short stature-optic atrophy-Pelger-HuC+t anomaly syndrome" 0 5 0 0 0 0 -MONDO:0016158 "narcolepsy-cataplexy syndrome" 1 19 0 0 0 0 +MONDO:0016158 "narcolepsy-cataplexy syndrome" 1 18 0 0 0 0 MONDO:0006644 "alcoholic liver cirrhosis" 1 11 0 0 0 1 MONDO:0019313 "lymphatic malformation" 1 14 0 0 0 1 HP:0002017 "Nausea and vomiting" 1 2 0 0 0 0 @@ -33722,9 +33736,8 @@ MONDO:0019272 "hereditary palmoplantar keratoderma" 1 4 0 0 0 1 NCBITaxon:121759 "Paracoccidioides brasiliensis" 0 1 0 0 0 0 GO:0004970 "ionotropic glutamate receptor activity" 1 0 0 0 0 0 MONDO:0016708 "embryonal tumor of neuroepithelial tissue" 0 2 0 0 0 1 -MONDO:0044988 "hip region disorder" 1 2 0 0 0 1 MONDO:0021175 "herpetic vulvovaginitis" 1 4 0 0 0 1 -MONDO:0014507 "Catel-Manzke syndrome" 1 7 0 0 0 0 +MONDO:0014507 "Catel-Manzke syndrome" 1 8 0 0 0 0 MONDO:0007356 "Lynch syndrome 1" 1 4 0 0 0 0 CHEBI:51269 "acenes" 1 0 0 0 0 0 HP:0003128 "Lactic acidosis" 1 5 0 0 0 0 @@ -33737,12 +33750,12 @@ GO:0004737 "pyruvate decarboxylase activity" 1 0 0 0 0 0 CL:0000393 "electrically responsive cell" 1 0 0 0 0 0 MONDO:0004452 "childhood central nervous system germinoma" 1 3 0 0 0 1 MONDO:0010691 "Norrie disease" 1 10 0 0 0 0 -MONDO:0009718 "myxedema" 1 9 0 0 0 0 +MONDO:0009718 "myxedema" 1 8 0 0 0 0 UBERON:0035216 "thoracic part of esophagus" 0 0 0 0 0 0 MONDO:0034103 "infection-related hemolytic uremic syndrome" 0 1 0 0 0 1 MONDO:0005693 "cauda equina syndrome" 1 8 0 0 0 1 CHEBI:37133 "barium molecular entity" 0 0 0 0 0 0 -MONDO:0010967 "autosomal recessive nonsyndromic hearing loss 7" 1 5 0 0 0 1 +MONDO:0010967 "autosomal recessive nonsyndromic hearing loss 7" 1 4 0 0 0 1 UBERON:0003244 "epithelium of mammary gland" 0 0 0 0 0 1 MONDO:0001130 "nasal cavity lymphoma" 1 3 0 0 0 1 MONDO:0002520 "hepatic porphyria" 1 10 0 0 0 1 @@ -33764,11 +33777,11 @@ MONDO:0004176 "childhood extraosseous osteosarcoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/4556 "GPX4" 0 0 0 0 0 0 MONDO:0020039 "46,XX disorder of sex development induced by androgens excess" 0 2 0 0 0 0 CHR:9606-chr1p21.3 "1p21.3 (Human)" 0 0 0 0 0 0 -MONDO:0013328 "retinitis pigmentosa 58" 1 4 0 0 0 1 -MONDO:0014186 "retinitis pigmentosa with or without situs inversus" 1 4 0 0 0 1 +MONDO:0013328 "retinitis pigmentosa 58" 1 3 0 0 0 1 +MONDO:0014186 "retinitis pigmentosa with or without situs inversus" 1 3 0 0 0 1 FOODON:03307455 "cow milk (raw)"@en 0 1 0 0 0 1 MONDO:0100365 "mucopolysaccharidosis or mucopolysaccharidosis-like disorder" 1 0 0 0 0 0 -MONDO:0010965 "autosomal recessive nonsyndromic hearing loss 6" 1 5 0 0 0 1 +MONDO:0010965 "autosomal recessive nonsyndromic hearing loss 6" 1 4 0 0 0 1 UBERON:0014538 "subdivision of spinal cord central canal" 0 0 0 0 0 1 GO:0007265 "Ras protein signal transduction" 1 0 0 0 0 0 MONDO:0000445 "obsolete neuroacanthocytosis" 0 0 0 0 0 0 @@ -33785,7 +33798,7 @@ http://identifiers.org/hgnc/3801 "FOXC2" 0 0 0 0 0 0 http://identifiers.org/hgnc/160 "ACTL6B" 0 0 0 0 0 0 MONDO:0014623 "microcephaly 14, primary, autosomal recessive" 1 3 0 0 0 1 http://identifiers.org/hgnc/28209 "CEP19" 0 0 0 0 0 0 -MONDO:0006977 "spermatocele" 1 12 0 0 0 0 +MONDO:0006977 "spermatocele" 1 10 0 0 0 0 UBERON:0022248 "cerebral nerve fasciculus" 0 0 0 0 0 1 MONDO:0011648 "radiation-induced meningioma" 0 5 0 0 0 1 NCBITaxon:71583 "Balantidiidae" 0 1 0 0 0 0 @@ -33793,7 +33806,7 @@ MONDO:0019851 "acquired primary ovarian failure" 1 4 0 0 0 1 MONDO:0000139 "obsolete microcephalic primordial dwarfism" 0 0 0 0 0 0 CL:0002453 "oligodendrocyte precursor cell" 1 0 0 0 0 1 MONDO:0019995 "peripheral resistance to thyroid hormones" 1 8 0 0 0 0 -MONDO:0001955 "protozoal dysentery" 1 4 0 0 0 1 +MONDO:0001955 "protozoal dysentery" 1 3 0 0 0 1 http://identifiers.org/hgnc/8923 "PHGDH" 0 0 0 0 0 0 MONDO:0014022 "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10" 1 4 0 0 0 1 CHEBI:33679 "helium molecular entity" 0 0 0 0 0 0 @@ -33811,9 +33824,9 @@ NCBITaxon:1653 "Corynebacteriaceae" 0 4 0 0 0 0 MONDO:0006489 "vaginal melanoma" 1 4 0 0 0 1 MONDO:0017027 "primary interstitial lung disease specific to adulthood" 0 2 0 0 0 0 GO:0010605 "negative regulation of macromolecule metabolic process" 1 0 0 0 0 1 -MONDO:0006615 "sweat gland disorder" 1 10 0 0 0 1 +MONDO:0006615 "sweat gland disorder" 1 8 0 0 0 1 MONDO:0003040 "retrograde amnesia" 1 4 0 0 0 0 -MONDO:0015229 "Bardet-Biedl syndrome" 1 32 0 0 0 0 +MONDO:0015229 "Bardet-Biedl syndrome" 1 31 0 0 0 0 UBERON:0009970 "epithelium of pancreatic duct" 0 0 0 0 0 1 GO:0008611 "ether lipid biosynthetic process" 1 0 0 0 0 0 MONDO:0006811 "intracranial hypotension" 1 7 0 0 0 0 @@ -33840,7 +33853,7 @@ MONDO:0018542 "severe congenital neutropenia" 0 16 0 0 0 0 MONDO:0002166 "rectum lymphoma" 1 3 0 0 0 1 HP:0011014 "Abnormal glucose homeostasis" 1 1 0 0 0 0 UBERON:0006645 "adventitia of epididymis" 0 0 0 0 0 1 -MONDO:0003627 "rheumatic pulmonary valve disease" 1 5 0 0 0 1 +MONDO:0003627 "rheumatic pulmonary valve disease" 1 4 0 0 0 1 MONDO:0013289 "agammaglobulinemia 4, autosomal recessive" 1 4 0 0 0 1 http://identifiers.org/hgnc/7794 "NFKB1" 0 0 0 0 0 0 http://identifiers.org/hgnc/7795 "NFKB2" 0 0 0 0 0 0 @@ -33866,7 +33879,7 @@ MONDO:0008238 "phosphatase, acid, of tissues" 0 1 0 0 0 0 http://identifiers.org/hgnc/30605 "SEPSECS" 0 0 0 0 0 0 MONDO:0000448 "paraganglioma" 1 15 0 0 0 1 MONDO:0016495 "functional variant of Guillain-Barre syndrome" 0 3 0 0 0 0 -MONDO:0002754 "extramedullary plasmacytoma" 1 9 0 0 0 0 +MONDO:0002754 "extramedullary plasmacytoma" 1 8 0 0 0 0 MONDO:0006384 "obsolete primary effusion lymphoma" 0 0 0 0 0 0 http://identifiers.org/hgnc/663 "ARG1" 0 0 0 0 0 0 NCBITaxon:506 "Alcaligenaceae" 0 1 0 0 0 0 @@ -33874,7 +33887,7 @@ CHEBI:6067 "isotretinoin" 1 0 0 0 0 0 http://identifiers.org/hgnc/30528 "DNAJC19" 0 0 0 0 0 0 ExO:0000000 "exposure stressor" 1 0 0 0 0 0 HP:0002224 "Woolly hair" 1 6 0 0 0 0 -MONDO:0019053 "peroxisomal disease" 1 9 0 0 0 1 +MONDO:0019053 "peroxisomal disease" 1 7 0 0 0 1 MONDO:0100402 "acute myeloid leukemia, del(13q14-q21)" 1 1 0 0 0 0 UBERON:0004058 "biliary ductule" 0 0 0 0 0 0 HP:0010987 "Abnormal cellular immune system morphology" 1 1 0 0 0 0 @@ -33899,12 +33912,12 @@ MONDO:0011997 "Hermansky-Pudlak syndrome 2" 1 9 0 0 0 1 MONDO:0005785 "henipavirus infectious disease" 1 2 0 0 0 1 MONDO:0020656 "human papillomavirus-related penile squamous cell carcinoma" 1 1 0 0 0 1 MONDO:0044765 "steroid-resistant nephrotic syndrome" 1 7 0 0 0 0 -MONDO:0019759 "epispadias" 1 10 0 0 0 0 +MONDO:0019759 "epispadias" 1 9 0 0 0 0 MONDO:0020368 "Axenfeld anomaly" 1 7 0 0 0 0 -MONDO:0019736 "dense deposit disease" 1 7 0 0 0 0 +MONDO:0019736 "dense deposit disease" 1 6 0 0 0 0 MONDO:0006943 "obsolete relapsing polychondritis" 0 0 0 0 0 0 -MONDO:0020290 "atrioventricular septal defect" 1 16 0 0 0 0 -MONDO:0013210 "autosomal recessive nonsyndromic hearing loss 25" 1 5 0 0 0 1 +MONDO:0020290 "atrioventricular septal defect" 1 15 0 0 0 0 +MONDO:0013210 "autosomal recessive nonsyndromic hearing loss 25" 1 4 0 0 0 1 NCBITaxon:6193 "Opisthorchiida" 0 1 0 0 0 0 MONDO:0016692 "pilomyxoid astrocytoma" 1 7 0 0 0 0 MONDO:0017935 "hyperinsulinism due to HNF1A deficiency" 1 4 0 0 0 0 @@ -33926,14 +33939,14 @@ http://identifiers.org/hgnc/18762 "SLC36A2" 0 0 0 0 0 0 NCBITaxon:10292 "Herpesviridae" 0 1 0 0 0 0 UBERON:0002451 "endometrial gland" 0 0 0 0 0 1 http://identifiers.org/hgnc/15924 "SALL4" 0 0 0 0 0 0 -MONDO:0001603 "paralytic lagophthalmos" 0 5 0 0 0 0 +MONDO:0001603 "paralytic lagophthalmos" 0 4 0 0 0 0 MONDO:0010448 "moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome" 1 3 0 0 0 0 MONDO:0006730 "drug psychosis" 1 6 0 0 0 1 MONDO:0008599 "trigeminal neuralgia" 1 11 0 0 0 1 MONDO:0018238 "obsolete rare bone disease related to a common gene or pathway defect" 0 0 0 0 0 0 MONDO:0044625 "autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation" 0 1 0 0 0 1 CL:1000546 "kidney medulla collecting duct epithelial cell" 0 1 0 0 0 1 -MONDO:0000592 "specific developmental disorder" 1 3 0 0 0 0 +MONDO:0000592 "specific developmental disorder" 1 4 0 0 0 0 GO:0000098 "sulfur amino acid catabolic process" 1 0 0 0 0 0 MONDO:0019489 "diffuse palmoplantar keratoderma - acrocyanosis syndrome" 1 3 0 0 0 0 MONDO:0005220 "collecting duct carcinoma" 1 10 0 0 0 1 @@ -33972,7 +33985,7 @@ http://identifiers.org/hgnc/40 "ABCB1" 0 0 0 0 0 0 MONDO:0040653 "autosomal recessive ocular albinism" 1 1 0 0 0 1 MONDO:0003115 "subglottic hemangioma" 1 3 0 0 0 1 CHR:9606-chr7p22.1 "7p22.1 (Human)" 0 0 0 0 0 0 -MONDO:0002152 "intermittent squint" 0 7 0 0 0 0 +MONDO:0002152 "intermittent squint" 0 5 0 0 0 0 MONDO:0014379 "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder" 1 7 0 0 0 0 MONDO:0000071 "obsolete myopathy, myofibrillar" 0 0 0 0 0 0 MONDO:0011966 "periventricular heterotopia with microcephaly, autosomal recessive" 0 5 0 0 0 0 @@ -34004,7 +34017,7 @@ MONDO:0020723 "vitamin D-dependent rickets, type 1A" 0 3 0 0 0 1 GO:0000977 "RNA polymerase II transcription regulatory region sequence-specific DNA binding" 1 0 0 0 0 0 MONDO:0010653 "Renpenning syndrome" 1 9 0 0 0 0 MONDO:0006251 "obsolete inclusion body fibromatosis" 0 0 0 0 0 0 -MONDO:0002471 "bursitis" 1 7 0 0 0 1 +MONDO:0002471 "bursitis" 1 6 0 0 0 1 GO:0048646 "anatomical structure formation involved in morphogenesis" 1 0 0 0 0 0 UBERON:0002527 "pancreatic lymph node" 0 0 0 0 0 1 MONDO:0012682 "immunodeficiency 35" 1 5 0 0 0 0 @@ -34020,7 +34033,7 @@ MONDO:0014761 "hereditary pediatric Behçet-like disease" 0 3 0 0 0 0 MONDO:0017143 "genetic infertility" 1 1 0 0 0 1 HP:0009118 "Aplasia/Hypoplasia of the mandible" 1 6 0 0 0 0 NCBITaxon:11974 "Caliciviridae" 0 1 0 0 0 0 -MONDO:0005441 "otitis media" 1 10 0 0 0 1 +MONDO:0005441 "otitis media" 1 8 0 0 0 1 MONDO:0021969 "Banti syndrome" 1 2 0 0 0 0 MONDO:0004705 "liver solitary fibrous tumor" 1 3 0 0 0 1 HP:0010892 "Abnormal circulating branched chain amino acid concentration" 1 1 0 0 0 0 @@ -34038,7 +34051,7 @@ GO:0002702 "positive regulation of production of molecular mediator of immune re MONDO:0008262 "Poland syndrome" 1 11 0 0 0 0 MONDO:0018157 "obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis" 0 3 0 0 0 0 MF:0000013 "thinking" 1 0 0 0 0 0 -MONDO:0020315 "obsolete unclassified myelodysplastic syndrome" 1 3 0 0 0 0 +MONDO:0020315 "obsolete unclassified myelodysplastic syndrome" 1 2 0 0 0 0 UBERON:0009132 "peroneus" 0 0 0 0 0 0 MONDO:0008715 "acrofrontofacionasal dysostosis" 1 9 0 0 0 0 MONDO:0100148 "X-linked complex neurodevelopmental disorder" 1 0 0 0 0 1 @@ -34046,7 +34059,7 @@ MONDO:0015276 "obsolete prostate cancer" 0 0 0 0 0 0 MONDO:0002478 "mixed germ cell-sex cord-stromal tumor" 1 3 0 0 0 0 MONDO:0006128 "central nervous system anaplastic large cell lymphoma" 1 3 0 0 0 1 UBERON:0000403 "scalp" 0 0 0 0 0 0 -MONDO:0006248 "hydatidiform mole" 1 17 0 0 0 0 +MONDO:0006248 "hydatidiform mole" 1 18 0 0 0 0 MONDO:0004525 "scabies" 1 7 0 0 0 1 MONDO:0040500 "glycosylphosphatidylinositol biosynthesis defect 16" 0 1 0 0 0 0 MONDO:0022778 "cleft lip palate intellectual disability corneal opacity" 0 1 0 0 0 0 @@ -34054,11 +34067,11 @@ GO:0033554 "cellular response to stress" 1 0 0 0 0 0 MONDO:0006901 "peritoneal neoplasm" 1 5 0 0 0 1 GO:2000253 "positive regulation of feeding behavior" 1 0 0 0 0 1 MONDO:0020545 "staphylococcal toxic-shock syndrome" 1 5 0 0 0 1 -MONDO:0019670 "ulnar hemimelia" 1 4 0 0 0 0 +MONDO:0019670 "ulnar hemimelia" 1 3 0 0 0 0 MONDO:0003405 "adult central nervous system germ cell tumor" 1 3 0 0 0 1 MONDO:0003828 "growth hormone-producing pituitary gland carcinoma" 1 3 0 0 0 1 NCBITaxon:7962 "Cyprinus carpio" 0 1 0 0 0 0 -MONDO:0004583 "transient retinal arterial occlusion" 1 6 0 0 0 1 +MONDO:0004583 "transient retinal arterial occlusion" 1 5 0 0 0 1 MONDO:0011898 "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive" 0 3 0 0 0 0 MONDO:0001756 "frontal sinus cancer" 1 6 0 0 0 1 CL:2000010 "dermis blood vessel endothelial cell" 1 0 0 0 0 1 @@ -34089,20 +34102,20 @@ UBERON:0002113 "kidney" 0 0 0 0 0 0 MONDO:0003611 "uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease" 1 3 0 0 0 1 MONDO:0011862 "hereditary spastic paraplegia 24" 1 7 0 0 0 0 MONDO:0001405 "dermatophytosis of groin and perianal area" 1 5 0 0 0 0 -MONDO:0014192 "primary ciliary dyskinesia 22" 1 4 0 0 0 1 -MONDO:0004739 "urea cycle disorder" 1 10 0 0 0 1 +MONDO:0014192 "primary ciliary dyskinesia 22" 1 3 0 0 0 1 +MONDO:0004739 "urea cycle disorder" 1 9 0 0 0 1 MONDO:0022615 "burn goodship syndrome" 0 1 0 0 0 0 http://identifiers.org/hgnc/18704 "NAA10" 0 0 0 0 0 0 MONDO:0012893 "osteoarthritis susceptibility 5" 1 3 0 0 0 1 MONDO:0000111 "camptodactyly syndrome, Guadalajara" 0 0 0 0 0 0 MONDO:0021303 "adenoma of small intestine" 1 3 0 0 0 1 -MONDO:0001760 "photokeratitis" 1 6 0 0 0 1 +MONDO:0001760 "photokeratitis" 1 5 0 0 0 1 UBERON:0003077 "paraxial mesoderm" 0 0 0 0 0 0 http://identifiers.org/hgnc/4192 "GCGR" 0 0 0 0 0 0 HP:0100022 "Abnormality of movement" 1 3 0 0 0 0 UBERON:0004947 "submucosa of right main bronchus" 0 0 0 0 0 1 MONDO:0003171 "pineal gland astrocytoma" 1 3 0 0 0 1 -MONDO:0017450 "split foot" 0 4 0 0 0 0 +MONDO:0017450 "split foot" 0 3 0 0 0 0 MONDO:0019772 "blepharospasm-oromandibular dystonia syndrome" 1 6 0 0 0 0 MONDO:0017451 "non-syndromic brachydactyly of fingers" 1 2 0 0 0 1 MONDO:0000906 "obsolete Alzheimer disease 5" 0 0 0 0 0 0 @@ -34123,11 +34136,11 @@ MONDO:0004350 "pediatric extraocular retinoblastoma" 1 3 0 0 0 1 UBERON:0005928 "external naris" 0 0 0 0 0 1 CHEBI:25414 "monoatomic monocation" 0 0 0 0 0 0 GO:0010907 "positive regulation of glucose metabolic process" 1 0 0 0 0 1 -MONDO:0014193 "primary ciliary dyskinesia 23" 1 5 0 0 0 1 +MONDO:0014193 "primary ciliary dyskinesia 23" 1 4 0 0 0 1 UBERON:0011299 "white matter of telencephalon" 0 0 0 0 0 1 MONDO:0020034 "obsolete rare respiratory tract neoplasm" 1 2 0 0 0 0 UBERON:0005049 "mucosa of infundibulum of uterine tube" 0 0 0 0 0 1 -MONDO:0015961 "genetic head and neck malformation" 0 1 0 0 0 0 +MONDO:0015961 "genetic head and neck malformation" 0 2 0 0 0 0 CHEBI:33575 "carboxylic acid" 1 0 0 0 0 0 http://identifiers.org/hgnc/23505 "BMS1" 0 0 0 0 0 0 MONDO:0033640 "vitamin D-dependent rickets, type 3" 0 1 0 0 0 0 @@ -34179,7 +34192,7 @@ MONDO:0001053 "acute infection of pinna" 1 4 0 0 0 0 UBERON:0008424 "inguinal mammary gland" 0 0 0 0 0 1 GO:0016175 "superoxide-generating NAD(P)H oxidase activity" 1 0 0 0 0 0 MONDO:0040797 "obsolete vascular headache" 1 3 0 0 0 0 -MONDO:0012003 "autosomal recessive nonsyndromic hearing loss 39" 1 7 0 0 0 1 +MONDO:0012003 "autosomal recessive nonsyndromic hearing loss 39" 1 6 0 0 0 1 MONDO:0016520 "isolated Klippel-Feil syndrome" 1 5 0 0 0 1 HP:0007360 "Aplasia/Hypoplasia of the cerebellum" 0 1 0 0 0 0 MONDO:0001004 "slate pneumoconiosis" 1 5 0 0 0 1 @@ -34218,7 +34231,7 @@ MONDO:0008762 "autosomal recessive Alport syndrome" 1 8 0 0 0 1 MONDO:0018543 "autosomal dominant hypocalcemia" 1 9 0 0 0 0 GO:1901859 "negative regulation of mitochondrial DNA metabolic process" 1 0 0 0 0 1 MONDO:0022946 "deafness progressive cataract autosomal dominant" 0 1 0 0 0 0 -MONDO:0019809 "congenital aortic valve insufficiency" 1 7 0 0 0 0 +MONDO:0019809 "congenital aortic valve insufficiency" 1 6 0 0 0 0 GO:0035636 "obsolete multi-organism signaling" 1 0 0 0 0 0 MONDO:0012966 "microvascular complications of diabetes, susceptibility to, 4" 1 1 0 0 0 1 UBERON:0014719 "intralobular duct" 0 0 0 0 0 1 @@ -34234,7 +34247,7 @@ MONDO:0032770 "intellectual developmental disorder with severe speech and ambula MONDO:0024545 "Miyoshi muscular dystrophy 1" 1 5 0 0 0 1 SO:0001500 "heritable_phenotypic_marker" 1 0 0 0 0 0 http://identifiers.org/hgnc/33848 "COA5" 0 0 0 0 0 0 -MONDO:0000367 "taeniasis" 1 9 0 0 0 1 +MONDO:0000367 "taeniasis" 1 8 0 0 0 1 MONDO:0010993 "Harrod syndrome" 1 7 0 0 0 0 http://identifiers.org/hgnc/16901 "SPEG" 0 0 0 0 0 0 UBERON:0014892 "skeletal muscle organ" 0 0 0 0 0 1 @@ -34253,7 +34266,7 @@ SO:0000946 "integration_excision_site" 1 0 0 0 0 0 CHEBI:589779 "piperidinium" 1 0 0 0 0 0 MONDO:0018699 "obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy" 0 1 0 0 0 0 MONDO:0021455 "benign neoplasm of neck" 1 4 0 0 0 1 -MONDO:0018537 "squamous cell carcinoma of gallbladder and extrahepatic biliary tract" 1 8 0 0 0 1 +MONDO:0018537 "squamous cell carcinoma of gallbladder and extrahepatic biliary tract" 1 3 0 0 0 1 MONDO:0005064 "obsolete infectious meningitis" 0 0 0 0 0 0 NCBITaxon:2212703 "Mucoromycetes" 0 1 0 0 0 0 MONDO:0010062 "spinocerebellar ataxia-dysmorphism syndrome" 1 6 0 0 0 0 @@ -34277,7 +34290,7 @@ http://identifiers.org/hgnc/11094 "SNAI2" 0 0 0 0 0 0 MONDO:0030397 "portal hypertension, noncirrhotic, 2" 0 1 0 0 0 0 MONDO:0000628 "central nervous system organ benign neoplasm" 1 1 0 0 0 1 http://identifiers.org/hgnc/11536 "TAF2" 0 0 0 0 0 0 -MONDO:0007378 "posterior polymorphous corneal dystrophy 1" 1 7 0 0 0 1 +MONDO:0007378 "posterior polymorphous corneal dystrophy 1" 1 6 0 0 0 1 MONDO:0016913 "partial deletion of the long arm of chromosome 15" 0 4 0 0 0 1 MONDO:0013228 "spondylo-megaepiphyseal-metaphyseal dysplasia" 0 5 0 0 0 0 http://identifiers.org/hgnc/11535 "TAF1" 0 0 0 0 0 0 @@ -34301,10 +34314,10 @@ MONDO:0020860 "faucial diphtheria" 1 4 0 0 0 1 MONDO:0019603 "osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome" 1 4 0 0 0 0 NCBITaxon:5739 "Hexamitidae" 0 1 0 0 0 0 HP:0000123 "Nephritis" 1 3 0 0 0 0 -MONDO:0002279 "iron metabolism disease" 1 7 0 0 0 0 -MONDO:0013386 "autosomal recessive nonsyndromic hearing loss 74" 1 5 0 0 0 1 +MONDO:0002279 "iron metabolism disease" 1 6 0 0 0 0 +MONDO:0013386 "autosomal recessive nonsyndromic hearing loss 74" 1 4 0 0 0 1 MONDO:0016104 "obsolete infectious disease with peripheral neuropathy" 1 3 0 0 0 0 -MONDO:0009669 "spinal muscular atrophy, type 1" 1 16 0 0 0 0 +MONDO:0009669 "spinal muscular atrophy, type 1" 1 15 0 0 0 0 MONDO:0033981 "obsolete krt1-related diffuse nonepidermolytic keratoderma" 0 0 0 0 0 0 MONDO:0002797 "childhood medulloblastoma" 1 5 0 0 0 1 MONDO:0019898 "distal monosomy 14q" 1 2 0 0 0 0 @@ -34316,8 +34329,8 @@ UBERON:0000990 "reproductive system" 0 0 0 0 0 1 MONDO:0054838 "cardiomyopathy, familial hypertrophic 27" 0 2 0 0 0 0 MONDO:0016912 "partial deletion of the long arm of chromosome 14" 1 3 0 0 0 1 MONDO:0016914 "partial deletion of the long arm of chromosome 16" 0 2 0 0 0 1 -MONDO:0001217 "pseudomembranous conjunctivitis" 1 7 0 0 0 0 -MONDO:0002282 "West Nile fever" 1 7 0 0 0 1 +MONDO:0001217 "pseudomembranous conjunctivitis" 1 6 0 0 0 0 +MONDO:0002282 "West Nile fever" 1 5 0 0 0 1 UBERON:0010414 "omental fat pad" 0 0 0 0 0 1 MONDO:0100312 "vestibular ataxia" 1 0 0 0 0 1 MONDO:0019464 "heavy chain disease" 1 16 0 0 0 0 @@ -34333,7 +34346,7 @@ http://identifiers.org/hgnc/6937 "MCCC2" 0 0 0 0 0 0 MONDO:0000734 "Ohdo syndrome and variants" 0 6 0 0 0 0 MONDO:0024247 "benign eccrine neoplasm" 1 3 0 0 0 1 MONDO:0005797 "HIV wasting syndrome" 1 4 0 0 0 1 -MONDO:0018083 "transient tyrosinemia of the newborn" 1 4 0 0 0 0 +MONDO:0018083 "transient tyrosinemia of the newborn" 1 3 0 0 0 0 MONDO:0008518 "calcaneonavicular coalition" 1 8 0 0 0 0 MONDO:0044870 "acquired torsion dystonia" 1 2 0 0 0 1 MONDO:0044268 "obsolete transsexuality" 0 1 0 0 0 0 @@ -34350,11 +34363,11 @@ MONDO:0004735 "obsolete Alagille syndrome" 0 0 0 0 0 0 MONDO:0030298 "angioedema, hereditary, 8" 0 1 0 0 0 0 MONDO:0005325 "radius fracture" 1 4 0 0 0 0 MONDO:0016915 "partial deletion of the long arm of chromosome 17" 0 2 0 0 0 1 -MONDO:0006994 "tarsal tunnel syndrome" 1 11 0 0 0 0 +MONDO:0006994 "tarsal tunnel syndrome" 1 10 0 0 0 0 UBERON:0001891 "midbrain" 0 0 0 0 0 0 http://identifiers.org/hgnc/11020 "SLC34A2" 0 0 0 0 0 0 GO:1902667 "regulation of axon guidance" 1 0 0 0 0 1 -MONDO:0002158 "fallopian tube cancer" 1 14 0 0 0 1 +MONDO:0002158 "fallopian tube cancer" 1 13 0 0 0 1 UBERON:0001511 "skin of leg" 0 0 0 0 0 1 GO:0004423 "iduronate-2-sulfatase activity" 1 0 0 0 0 0 http://identifiers.org/hgnc/12786 "WNT7A" 0 0 0 0 0 0 @@ -34369,7 +34382,7 @@ UBERON:0035597 "profundal placode" 0 0 0 0 0 0 MONDO:0016062 "median cleft lip/mandibule" 1 3 0 0 0 0 MONDO:0007681 "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors" 1 7 0 0 0 1 MONDO:0011479 "postural orthostatic tachycardia syndrome" 1 6 0 0 0 0 -MONDO:0007827 "inclusion body myositis" 1 16 0 0 0 0 +MONDO:0007827 "inclusion body myositis" 1 15 0 0 0 0 MONDO:0001885 "lateral cystocele" 0 5 0 0 0 0 UBERON:0002539 "pharyngeal arch" 0 0 0 0 0 0 GO:0051606 "detection of stimulus" 1 0 0 0 0 0 @@ -34384,7 +34397,7 @@ GO:0007566 "embryo implantation" 1 0 0 0 0 0 GO:0031967 "organelle envelope" 1 0 0 0 0 0 MONDO:0043297 "vibrio vulnificus infectious disease" 1 4 0 0 0 1 MONDO:0011886 "torsion dystonia 13" 1 6 0 0 0 0 -MONDO:0004608 "oropharynx cancer" 1 20 0 0 0 1 +MONDO:0004608 "oropharynx cancer" 1 16 0 0 0 1 MONDO:0032936 "myopathy, congenital, with respiratory insufficiency and bone fractures" 0 1 0 0 0 0 GO:0001818 "negative regulation of cytokine production" 1 0 0 0 0 1 GO:0003690 "double-stranded DNA binding" 1 0 0 0 0 0 @@ -34418,7 +34431,7 @@ NCBITaxon:7162 "Ochlerotatus triseriatus" 0 1 0 0 0 0 CHEBI:61313 "C21-steroid" 1 0 0 0 0 0 GO:0045700 "regulation of spermatid nuclear differentiation" 1 0 0 0 0 1 MONDO:0022817 "congenital amputation" 0 1 0 0 0 0 -MONDO:0010818 "retinitis pigmentosa 12" 1 6 0 0 0 1 +MONDO:0010818 "retinitis pigmentosa 12" 1 5 0 0 0 1 CL:2000008 "microvascular endothelial cell" 1 0 0 0 0 1 NCBITaxon:40119 "Parvovirinae" 0 1 0 0 0 0 UBERON:3011045 "gasserian ganglion" 0 0 0 0 0 0 @@ -34430,7 +34443,7 @@ http://identifiers.org/hgnc/30022 "PPARGC1B" 0 0 0 0 0 0 MONDO:0032645 "trichohepatoneurodevelopmental syndrome" 0 1 0 0 0 0 MONDO:0012145 "macular degeneration, age-related, 3" 1 3 0 0 0 1 MONDO:0008877 "blue diaper syndrome" 1 7 0 0 0 0 -MONDO:0015463 "craniodigital syndrome-intellectual disability syndrome" 1 6 0 0 0 0 +MONDO:0015463 "craniodigital syndrome-intellectual disability syndrome" 1 7 0 0 0 0 MONDO:0002761 "cervical verrucous carcinoma" 1 3 0 0 0 1 MONDO:0100210 "growth hormone insensitivity syndrome with immune dysregulation" 0 1 0 0 0 0 MONDO:0014322 "premature ovarian failure 9" 1 2 0 0 0 1 @@ -34447,7 +34460,7 @@ MONDO:0018086 "ulerythema ophryogenesis" 1 3 0 0 0 0 MONDO:0001299 "diabetic autonomic neuropathy" 1 6 0 0 0 1 MONDO:0005687 "Caliciviridae infectious disease" 1 2 0 0 0 1 MONDO:0032763 "immunodeficiency 62" 0 1 0 0 0 0 -MONDO:0020365 "congenital hereditary endothelial dystrophy type I" 1 3 0 0 0 0 +MONDO:0020365 "congenital hereditary endothelial dystrophy type I" 1 4 0 0 0 0 MONDO:0005358 "Dengue hemorrhagic fever" 1 5 0 0 0 1 MONDO:0005243 "obsolete Cushing syndrome" 0 0 0 0 0 0 MONDO:0014792 "Paget disease of bone 6" 0 2 0 0 0 1 @@ -34457,14 +34470,14 @@ MONDO:0009704 "carnitine palmitoyl transferase II deficiency, myopathic form" 1 http://identifiers.org/hgnc/16252 "SUN5" 0 0 0 0 0 0 CHEBI:38099 "thiadiazoles" 0 0 0 0 0 0 MONDO:0018404 "obsolete rare genetic male infertility" 1 2 0 0 0 0 -MONDO:0005321 "Fuchs' endothelial dystrophy" 1 19 0 0 0 0 +MONDO:0005321 "Fuchs' endothelial dystrophy" 1 18 0 0 0 0 MONDO:0002000 "anaerobic meningitis" 0 4 0 0 0 1 MONDO:0002344 "obsolete corneal dystrophy" 0 0 0 0 0 0 http://identifiers.org/hgnc/30859 "SNRNP200" 0 0 0 0 0 0 UBERON:0001243 "serosa of intestine" 0 0 0 0 0 1 GO:0034104 "negative regulation of tissue remodeling" 1 0 0 0 0 1 http://identifiers.org/hgnc/11164 "SNRPN" 0 0 0 0 0 0 -MONDO:0006564 "irritant dermatitis" 1 9 0 0 0 0 +MONDO:0006564 "irritant dermatitis" 1 7 0 0 0 0 MONDO:0015506 "obsolete rare syndrome with cardiac malformations" 0 2 0 0 0 0 http://identifiers.org/hgnc/14966 "PXDN" 0 0 0 0 0 0 http://identifiers.org/hgnc/6663 "LORICRIN" 0 0 0 0 0 0 @@ -34509,7 +34522,7 @@ MONDO:0009312 "lipodystrophy due to peptidic growth factors deficiency" 1 8 0 0 MONDO:0012379 "asthma-related traits, susceptibility to, 3" 0 1 0 0 0 0 GO:1900450 "negative regulation of glutamate receptor signaling pathway" 1 0 0 0 0 1 MONDO:0015745 "microcephaly-polymicrogyria-corpus callosum agenesis syndrome" 1 3 0 0 0 0 -MONDO:0005865 "mushroom workers' lung" 1 6 0 0 0 0 +MONDO:0005865 "mushroom workers' lung" 1 5 0 0 0 0 UBERON:0008716 "hilum of kidney" 0 0 0 0 0 1 MONDO:0011052 "amelia cleft lip palate hydrocephalus iris coloboma" 0 5 0 0 0 0 UBERON:0015080 "proximal carpal bone pre-cartilage condensation" 0 0 0 0 0 1 @@ -34535,7 +34548,7 @@ NCBITaxon:163159 "Xenopsylla cheopis" 0 1 0 0 0 0 HP:0010525 "Finger agnosia" 1 3 0 0 0 0 MONDO:0017521 "hyperphalangy, unilateral" 0 2 0 0 0 0 MONDO:0006114 "obsolete bladder squamous cell carcinoma" 0 0 0 0 0 0 -MONDO:0001950 "corneal ectasia" 0 5 0 0 0 0 +MONDO:0001950 "corneal ectasia" 0 4 0 0 0 0 MONDO:0022586 "bone dysplasia Moore type" 0 1 0 0 0 0 BFO:0000030 "object"@en 0 0 0 0 0 0 BFO:0000030 "object" 0 0 0 0 0 0 @@ -34559,16 +34572,15 @@ MONDO:0021535 "pancreatic neuroendocrine tumor G1" 1 2 0 0 0 1 GO:0033692 "cellular polysaccharide biosynthetic process" 1 0 0 0 0 0 MONDO:0001981 "obsolete cholesterol ester storage disease" 0 0 0 0 0 0 MONDO:0014404 "Webb-Dattani syndrome" 0 3 0 0 0 0 -MONDO:0010635 "hypogonadotropic hypogonadism 1 with or without anosmia" 1 7 0 0 0 1 +MONDO:0010635 "hypogonadotropic hypogonadism 1 with or without anosmia" 1 6 0 0 0 1 MONDO:0008258 "platelet signal processing defect" 0 3 0 0 0 0 -MONDO:0000809 "purpura fulminans" 1 5 0 0 0 0 +MONDO:0000809 "purpura fulminans" 1 4 0 0 0 0 MONDO:0013907 "bilateral generalized polymicrogyria" 1 6 0 0 0 0 MONDO:0006482 "ureter small cell carcinoma" 1 4 0 0 0 1 MONDO:0007817 "IgE responsiveness, atopic" 1 3 0 0 0 0 HP:0012874 "Abnormal male reproductive system physiology" 1 1 0 0 0 0 GO:0002279 "mast cell activation involved in immune response" 1 0 0 0 0 1 MONDO:0017718 "obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes" 0 2 0 0 0 0 -MONDO:0020053 "total autosomal monosomy" 0 3 0 0 0 0 HP:0008372 "Abnormality of vitamin A metabolism" 0 1 0 0 0 0 MONDO:0002641 "subclavian artery aneurysm" 1 4 0 0 0 0 GO:0043603 "cellular amide metabolic process" 1 0 0 0 0 0 @@ -34608,7 +34620,7 @@ MONDO:0015770 "congenital hypogonadotropic hypogonadism" 1 5 0 0 0 0 MONDO:0000437 "cerebellar ataxia" 1 8 0 0 0 1 UBERON:0000476 "acellular anatomical structure" 0 0 0 0 0 0 GO:0048585 "negative regulation of response to stimulus" 1 0 0 0 0 1 -MONDO:0016035 "Nelson syndrome" 1 10 0 0 0 0 +MONDO:0016035 "Nelson syndrome" 1 9 0 0 0 0 MONDO:0012993 "dyschromatosis universalis hereditaria 2" 0 4 0 0 0 0 MONDO:0016666 "unexplained long-lasting fever/inflammatory syndrome" 0 2 0 0 0 0 NCBITaxon:552467 "Cryptococcus gattii VGIII" 0 1 0 0 0 0 @@ -34634,14 +34646,14 @@ CHR:9606-chr16p13 "16p13 (Human)" 0 0 0 0 0 0 GO:0034248 "regulation of cellular amide metabolic process" 1 0 0 0 0 1 UBERON:0005856 "developing mesenchymal condensation" 0 0 0 0 0 0 MONDO:0013992 "obesity due to leptin receptor gene deficiency" 0 5 0 0 0 1 -MONDO:0008323 "Liddle syndrome" 1 11 0 0 0 0 -MONDO:0007661 "Tourette syndrome" 1 10 0 0 0 0 +MONDO:0008323 "Liddle syndrome" 1 12 0 0 0 0 +MONDO:0007661 "Tourette syndrome" 1 9 0 0 0 0 MONDO:0012007 "scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities" 0 3 0 0 0 0 http://identifiers.org/hgnc/13356 "MCOLN1" 0 0 0 0 0 0 UBERON:0002182 "main bronchus" 0 0 0 0 0 0 MONDO:0013355 "congenital dyserythropoietic anemia type 4" 1 6 0 0 0 0 UBERON:0009644 "trachea non-cartilage connective tissue" 0 0 0 0 0 0 -MONDO:0018897 "primary cutaneous CD30+ T-cell lymphoproliferative disease" 0 6 0 0 0 0 +MONDO:0018897 "primary cutaneous CD30+ T-cell lymphoproliferative disease" 0 5 0 0 0 0 CHR:9606-chr6p22 "6p22 (Human)" 0 0 0 0 0 0 NCBITaxon:2499399 "Cornidovirineae" 0 1 0 0 0 0 GO:1990542 "mitochondrial transmembrane transport" 1 0 0 0 0 0 @@ -34676,7 +34688,7 @@ CL:0000622 "acinar cell" 1 1 0 0 0 0 MONDO:0012486 "preauricular tag, isolated, autosomal dominant, 1" 0 3 0 0 0 0 CL:0000895 "naive thymus-derived CD4-positive, alpha-beta T cell" 1 0 0 0 0 0 MONDO:0033885 "mitochondrial complex IV deficiency, nuclear-type" 0 1 0 0 0 0 -MONDO:0005135 "parasitic infectious disease" 1 18 0 0 0 0 +MONDO:0005135 "parasitic infectious disease" 1 17 0 0 0 0 MONDO:0012491 "macroglobulinemia, Waldenstrom, 2" 0 2 0 0 0 0 CHEBI:35223 "catalyst" 1 0 0 0 0 0 MONDO:0020763 "Menke-Hennekam syndrome 1" 0 1 0 0 0 0 @@ -34699,7 +34711,7 @@ GO:0032881 "regulation of polysaccharide metabolic process" 1 0 0 0 0 1 MONDO:0010139 "isolated thyroid-stimulating hormone deficiency" 1 7 0 0 0 0 MONDO:0020672 "vascular occlusion disorder" 1 0 0 0 0 0 HP:0011603 "Congenital malformation of the great arteries" 1 1 0 0 0 0 -MONDO:0005729 "dicrocoeliasis" 1 8 0 0 0 1 +MONDO:0005729 "dicrocoeliasis" 1 7 0 0 0 1 CHEBI:32863 "secondary amine" 1 0 0 0 0 0 MONDO:0009434 "hypoproteinemia, hypercatabolic" 0 3 0 0 0 0 MONDO:0018604 "familial colorectal cancer type X" 1 12 0 0 0 0 @@ -34714,7 +34726,7 @@ MONDO:0004510 "inflammatory liposarcoma" 1 3 0 0 0 0 MONDO:0012479 "congenital malabsorptive diarrhea 4" 1 7 0 0 0 1 MONDO:0100315 "isolated adrenal insufficiency" 1 0 0 0 0 0 CHR:9606-chr5 "chromosome 5 (Human)" 0 0 0 0 0 0 -MONDO:0012030 "autosomal dominant nonsyndromic hearing loss 43" 1 5 0 0 0 0 +MONDO:0012030 "autosomal dominant nonsyndromic hearing loss 43" 1 4 0 0 0 0 MONDO:0002296 "obsolete glomus tumor" 0 0 0 0 0 0 MONDO:0004875 "xanthogranulomatous cholecystitis" 1 6 0 0 0 0 GO:0100023 "obsolete regulation of meiotic nuclear division by transcription from RNA polymerase II promoter" 1 0 0 0 0 0 @@ -34726,19 +34738,19 @@ http://identifiers.org/hgnc/9364 "PRG4" 0 0 0 0 0 0 MONDO:0005798 "HIV-associated nephropathy" 1 4 0 0 0 1 MONDO:0019463 "non-amyloid monoclonal immunoglobulin deposition disease" 0 3 0 0 0 0 OBI:0002076 "collection of specimens"@en 1 0 0 0 0 1 -MONDO:0010915 "autosomal dominant nonsyndromic hearing loss 4A" 1 5 0 0 0 1 +MONDO:0010915 "autosomal dominant nonsyndromic hearing loss 4A" 1 4 0 0 0 1 http://identifiers.org/hgnc/29106 "DDHD2" 0 0 0 0 0 0 MONDO:0020655 "juvenile ankylosing spondylitis" 0 2 0 0 0 1 NCBITaxon:5810 "Toxoplasma" 0 1 0 0 0 0 MONDO:0008955 "cerebrooculofacioskeletal syndrome 1" 1 4 0 0 0 1 MONDO:0002968 "lymphocele" 1 6 0 0 0 0 MONDO:0000425 "X-linked disease" 1 7 0 0 0 1 -MONDO:0013679 "sclerosteosis 2" 1 5 0 0 0 1 +MONDO:0013679 "sclerosteosis 2" 1 4 0 0 0 1 UBERON:0007724 "interphalangeal joint of pedal digit 1" 0 0 0 0 0 1 MONDO:0012876 "heparin cofactor 2 deficiency" 0 5 0 0 0 0 -MONDO:0011912 "autosomal recessive nonsyndromic hearing loss 37" 1 5 0 0 0 1 +MONDO:0011912 "autosomal recessive nonsyndromic hearing loss 37" 1 4 0 0 0 1 UBERON:0007728 "interphalangeal joint of pedal digit 5" 0 0 0 0 0 1 -MONDO:0011873 "Niemann-Pick disease, type C2" 1 8 0 0 0 0 +MONDO:0011873 "Niemann-Pick disease, type C2" 1 7 0 0 0 0 MONDO:0010641 "X-linked diffuse leiomyomatosis-Alport syndrome" 1 6 0 0 0 0 HP:0011821 "Abnormality of facial skeleton" 1 2 0 0 0 0 MONDO:0002796 "melanotic medulloblastoma" 1 5 0 0 0 0 @@ -34756,7 +34768,7 @@ MONDO:0019317 "follicular atrophoderma-basal cell carcinoma" 0 3 0 0 0 0 MONDO:0002452 "prostate leiomyoma" 1 3 0 0 0 1 UBERON:0015860 "visceral abdominal lymph node" 0 0 0 0 0 0 MONDO:0021481 "benign neoplasm of submandibular gland" 1 3 0 0 0 1 -MONDO:0021697 "chlamydia infectious disease" 1 3 0 0 0 1 +MONDO:0021697 "chlamydia infectious disease" 1 4 0 0 0 1 MONDO:0012068 "brachial palsy, familial congenital" 0 3 0 0 0 0 MONDO:0005618 "anxiety disorder" 1 8 0 0 0 0 CHEBI:33459 "pnictogen oxoanion" 0 0 0 0 0 0 @@ -34772,7 +34784,7 @@ MONDO:0010985 "epilepsy, familial adult myoclonic, 1" 0 5 0 0 0 0 MONDO:0004113 "obsolete HCL-v" 0 0 0 0 0 0 MONDO:0022535 "autonomic facial cephalgia" 0 4 0 0 0 0 MONDO:0003501 "external ear squamous cell carcinoma" 1 3 0 0 0 1 -MONDO:0014287 "short-rib thoracic dysplasia 11 with or without polydactyly" 1 6 0 0 0 0 +MONDO:0014287 "short-rib thoracic dysplasia 11 with or without polydactyly" 1 5 0 0 0 0 MONDO:0030988 "developmental delay with dysmorphic facies and dental anomalies" 0 1 0 0 0 0 NCBITaxon:499556 "Chapare mammarenavirus" 0 1 0 0 0 0 MONDO:0003023 "aorta angiosarcoma" 1 3 0 0 0 1 @@ -34790,9 +34802,9 @@ MONDO:0040675 "myofibroblastoma" 1 2 0 0 0 0 HP:0004444 "Spherocytosis" 1 2 0 0 0 0 MONDO:0013654 "aneurysm, intracranial berry, 11" 0 3 0 0 0 0 UBERON:0010272 "hyoid apparatus" 0 0 0 0 0 0 -MONDO:0017580 "11p15.4 microduplication syndrome" 1 3 0 0 0 1 +MONDO:0017580 "11p15.4 microduplication syndrome" 1 2 0 0 0 1 MONDO:0008666 "volvulus of midgut" 1 5 0 0 0 0 -MONDO:0002586 "thymus cancer" 1 6 0 0 0 1 +MONDO:0002586 "thymus cancer" 1 5 0 0 0 1 GO:0042092 "type 2 immune response" 1 0 0 0 0 0 UBERON:0000400 "jejunal epithelium" 0 0 0 0 0 1 http://identifiers.org/hgnc/1641 "CD209" 0 0 0 0 0 0 @@ -34805,13 +34817,13 @@ MONDO:0100265 "peroxisome biogenesis disorder due to PEX5 defect in the PEX7-bin MONDO:0013009 "Megarbane-Jalkh syndrome" 0 4 0 0 0 0 NCBITaxon:171637 "Amygdaloideae" 0 2 0 0 0 0 UBERON:0035841 "esophagogastric junction muscularis propria" 0 0 0 0 0 1 -MONDO:0010987 "autosomal recessive nonsyndromic hearing loss 8" 1 4 0 0 0 0 +MONDO:0010987 "autosomal recessive nonsyndromic hearing loss 8" 1 3 0 0 0 0 MONDO:0012299 "nanophthalmos 2" 1 4 0 0 0 1 HP:0010535 "Sleep apnea" 1 3 0 0 0 0 UBERON:0002811 "left frontal lobe" 0 0 0 0 0 1 MONDO:0016381 "hypertrichosis lanuginosa congenita" 1 8 0 0 0 0 UBERON:0006682 "hypoglossal canal" 0 0 0 0 0 1 -MONDO:0010986 "autosomal recessive nonsyndromic hearing loss 9" 1 3 0 0 0 1 +MONDO:0010986 "autosomal recessive nonsyndromic hearing loss 9" 1 2 0 0 0 1 MONDO:0002734 "anal mucinous adenocarcinoma" 1 3 0 0 0 1 HP:0004337 "Abnormality of amino acid metabolism" 1 1 0 0 0 0 MONDO:0009953 "leukocyte adhesion deficiency type II" 1 11 0 0 0 0 @@ -34829,9 +34841,9 @@ http://identifiers.org/hgnc/2861 "DHFR" 0 0 0 0 0 0 UBERON:0007389 "paired limb/fin cartilage" 0 0 0 0 0 1 MONDO:0007324 "obsolete chorea" 0 0 0 0 0 0 MONDO:0012825 "extraskeletal myxoid chondrosarcoma" 1 10 0 0 0 0 -MONDO:0018658 "19p13.3 microduplication syndrome" 1 4 0 0 0 1 +MONDO:0018658 "19p13.3 microduplication syndrome" 1 3 0 0 0 1 MONDO:0000093 "Schistosoma mansoni infection, susceptibility" 0 0 0 0 0 1 -MONDO:0001166 "nephritis" 1 10 0 0 0 1 +MONDO:0001166 "nephritis" 1 8 0 0 0 1 MONDO:0000794 "obsolete beta-lactam allergy" 1 1 0 0 0 0 MONDO:0000802 "obsolete Indian prawn allergy" 1 1 0 0 0 0 MONDO:0005987 "toxascariasis" 1 4 0 0 0 1 @@ -34864,7 +34876,7 @@ MONDO:0000408 "fetal alcohol spectrum disorder" 1 8 0 0 0 0 UBERON:0000313 "portion of cartilage tissue in tibia" 0 0 0 0 0 1 MONDO:0030293 "angioedema, hereditary, 5" 0 1 0 0 0 0 UBERON:0003922 "pancreatic epithelial bud" 0 0 0 0 0 0 -MONDO:0019934 "polyploidy" 1 4 0 0 0 1 +MONDO:0019934 "polyploidy" 1 3 0 0 0 1 MONDO:0018030 "tetrasomy 9p" 1 6 0 0 0 0 GO:0016887 "ATP hydrolysis activity" 1 0 0 0 0 0 MONDO:0019684 "obsolete rare bone disease" 1 2 0 0 0 0 @@ -34873,8 +34885,8 @@ MONDO:0009743 "neurologic disease, infantile multisystem, with osseous fragility MONDO:0018997 "Noonan syndrome" 1 22 0 0 0 0 MONDO:0001772 "ulcer of anus and rectum" 0 3 0 0 0 0 UBERON:0010570 "manual digit 1 metacarpus cartilage element" 0 0 0 0 0 1 -MONDO:0005826 "lipid pneumonia" 1 7 0 0 0 0 -MONDO:0019498 "tungiasis" 1 9 0 0 0 1 +MONDO:0005826 "lipid pneumonia" 1 6 0 0 0 0 +MONDO:0019498 "tungiasis" 1 8 0 0 0 1 MONDO:0009054 "autosomal recessive cutis laxa type 2, classic type" 0 11 0 0 0 0 UBERON:0001301 "epididymis" 0 0 0 0 0 0 MONDO:0020590 "mycobacterial infectious disease" 1 4 0 0 0 1 @@ -34906,9 +34918,9 @@ http://identifiers.org/hgnc/6929 "MC1R" 0 0 0 0 0 0 MONDO:0003994 "botryoid-type embryonal rhabdomyosarcoma of the vagina" 1 3 0 0 0 1 MONDO:0015256 "blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome" 0 1 0 0 0 0 MONDO:0000763 "epithelial and subepithelial corneal dystrophy" 0 1 0 0 0 0 -MONDO:0011382 "sickle cell anemia" 1 17 0 0 0 0 +MONDO:0011382 "sickle cell anemia" 1 15 0 0 0 0 MONDO:0004517 "ureter tuberculosis" 1 5 0 0 0 1 -MONDO:0019433 "oligoarticular juvenile idiopathic arthritis" 1 8 0 0 0 0 +MONDO:0019433 "oligoarticular juvenile idiopathic arthritis" 1 7 0 0 0 0 MONDO:0016278 "obsolete carcinosarcoma of the cervix uteri" 1 0 0 0 0 0 GO:0004351 "glutamate decarboxylase activity" 1 0 0 0 0 0 CHEBI:26833 "sulfur atom" 0 0 0 0 0 0 @@ -34931,7 +34943,7 @@ http://identifiers.org/hgnc/24682 "FLVCR1" 0 0 0 0 0 0 UBERON:0005734 "tunica adventitia of blood vessel" 0 0 0 0 0 0 http://identifiers.org/hgnc/25576 "NAXD" 0 0 0 0 0 0 http://identifiers.org/hgnc/7464 "MTNR1B" 0 0 0 0 0 0 -MONDO:0005364 "Graves disease" 1 13 0 0 0 0 +MONDO:0005364 "Graves disease" 1 12 0 0 0 0 MONDO:0002587 "encapsulated thymoma" 1 3 0 0 0 0 UBERON:0011593 "maxillary tooth" 0 0 0 0 0 1 MONDO:0012757 "lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome" 1 5 0 0 0 0 @@ -34945,13 +34957,13 @@ MONDO:0002284 "obsolete gangliosidosis" 0 0 0 0 0 0 MONDO:0004962 "stage II endometrioid carcinoma" 1 1 0 0 0 0 UBERON:0004548 "left eye" 0 0 0 0 0 1 MONDO:0006627 "obsolete microscopic polyangiitis" 0 0 0 0 0 0 -MONDO:0002220 "tooth hard tissue disease" 0 8 0 0 0 0 +MONDO:0002220 "tooth hard tissue disease" 0 6 0 0 0 0 MONDO:0008084 "neuropathy, congenital, with arthrogryposis multiplex" 0 4 0 0 0 0 http://identifiers.org/hgnc/12362 "TSC1" 0 0 0 0 0 0 MONDO:0019311 "woolly hair nevus" 1 5 0 0 0 0 MONDO:0020222 "obsolete rare disease with glaucoma as a major feature" 0 2 0 0 0 0 http://identifiers.org/hgnc/12363 "TSC2" 0 0 0 0 0 0 -MONDO:0006678 "bladder calculus" 1 9 0 0 0 0 +MONDO:0006678 "bladder calculus" 1 8 0 0 0 0 NCBITaxon:6945 "Ixodes scapularis" 0 1 0 0 0 0 MONDO:0000011 "obsolete chondrodysplasia" 0 0 0 0 0 0 MONDO:0020187 "obsolete eyelashes hypertrophy" 0 1 0 0 0 0 @@ -34966,12 +34978,12 @@ MONDO:0014818 "nephrotic syndrome, type 13" 1 3 0 0 0 1 MONDO:0007133 "anonychia-onychodystrophy with brachydactyly type b and ectrodactyly" 0 5 0 0 0 0 MONDO:0014817 "nephrotic syndrome, type 12" 1 3 0 0 0 1 GO:0007006 "mitochondrial membrane organization" 1 0 0 0 0 1 -MONDO:0018694 "isolated tracheo-esophageal fistula" 1 3 0 0 0 0 +MONDO:0018694 "isolated tracheo-esophageal fistula" 1 2 0 0 0 0 MONDO:0008633 "Muckle-Wells syndrome" 1 11 0 0 0 0 CHEBI:84144 "L-phenylalanine derivative" 1 0 0 0 0 0 MONDO:0006954 "obsolete rheumatic fever" 0 0 0 0 0 0 MONDO:0016590 "obsolete collecting duct carcinoma" 0 0 0 0 0 0 -MONDO:0001803 "myringitis bullosa hemorrhagica" 1 5 0 0 0 0 +MONDO:0001803 "myringitis bullosa hemorrhagica" 1 4 0 0 0 0 MONDO:0054573 "Lopes-Maciel-Rodan syndrome" 0 2 0 0 0 0 MONDO:0014388 "familial median cleft of the upper and lower lips" 1 3 0 0 0 0 GO:0051347 "positive regulation of transferase activity" 1 0 0 0 0 1 @@ -35003,7 +35015,7 @@ MONDO:0002481 "ovarian neuroendocrine neoplasm" 1 3 0 0 0 1 UBERON:0013150 "future brain vesicle" 0 0 0 0 0 0 MONDO:0004318 "pulmonary type ovarian small cell carcinoma" 1 3 0 0 0 0 HP:0010576 "Intracranial cystic lesion" 1 1 0 0 0 0 -MONDO:0004914 "celiac artery stenosis from compression by median arcuate ligament of diaphragm" 1 8 0 0 0 1 +MONDO:0004914 "celiac artery stenosis from compression by median arcuate ligament of diaphragm" 1 7 0 0 0 1 UBERON:0010533 "metanephros cortex" 0 0 0 0 0 1 MONDO:0008728 "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" 1 11 0 0 0 0 http://identifiers.org/hgnc/10961 "SLCO1B3" 0 0 0 0 0 0 @@ -35057,7 +35069,7 @@ MONDO:0016346 "hydrocephalus-obesity-hypogonadism syndrome" 1 4 0 0 0 0 MONDO:0014555 "peeling skin syndrome type A" 1 5 0 0 0 0 MONDO:0002055 "benign eccrine breast spiradenoma" 1 3 0 0 0 0 UBERON:0009885 "interlobar artery" 0 0 0 0 0 1 -MONDO:0005068 "myocardial infarction" 1 11 0 0 0 0 +MONDO:0005068 "myocardial infarction" 1 10 0 0 0 0 MONDO:0002484 "obsolete breast ductal carcinoma" 0 0 0 0 0 0 NCBITaxon:51291 "Chlamydiales" 0 7 0 0 0 0 HP:0000822 "Hypertension" 1 5 0 0 0 0 @@ -35070,12 +35082,12 @@ GO:0002534 "cytokine production involved in inflammatory response" 1 0 0 0 0 1 MONDO:0005224 "acute myeloblastic leukemia without maturation" 1 8 0 0 0 0 MONDO:0011243 "grange syndrome" 1 6 0 0 0 0 MONDO:0015989 "obsolete congenital valvular dysplasia" 0 0 0 0 0 0 -MONDO:0005929 "postpartum depression" 1 6 0 0 0 0 +MONDO:0005929 "postpartum depression" 1 5 0 0 0 0 MONDO:0045047 "neurosarcoidosis" 1 3 0 0 0 1 MONDO:0002369 "cystadenoma" 1 5 0 0 0 0 NCBITaxon:11623 "Lymphocytic choriomeningitis mammarenavirus" 0 1 0 0 0 0 MONDO:0011404 "Caronte" 0 1 0 0 0 0 -MONDO:0011123 "type 1 diabetes mellitus 15" 1 5 0 0 0 0 +MONDO:0011123 "type 1 diabetes mellitus 15" 1 4 0 0 0 0 UBERON:0004391 "epiphysis of first metacarpal bone" 0 0 0 0 0 1 UBERON:0003299 "roof plate of midbrain" 0 0 0 0 0 1 MONDO:0014958 "Harel-Yoon syndrome" 0 2 0 0 0 0 @@ -35085,14 +35097,14 @@ NCBITaxon:6274 "Spirurina" 0 1 0 0 0 0 MONDO:0002067 "female breast upper-inner quadrant cancer" 0 5 0 0 0 0 MONDO:0002920 "malignant ovarian Brenner tumor" 1 6 0 0 0 1 MONDO:0008096 "nevus flammeus of nape of neck" 0 2 0 0 0 0 -MONDO:0007514 "ectopia lentis 1, isolated, autosomal dominant" 1 5 0 0 0 1 +MONDO:0007514 "ectopia lentis 1, isolated, autosomal dominant" 1 4 0 0 0 1 MONDO:0015237 "arrhinia" 1 6 0 0 0 0 CL:0002658 "glandular cell of the large intestine" 1 1 0 0 0 1 MONDO:0020308 "benign childhood occipital epilepsy, Gastaut type" 1 3 0 0 0 0 http://identifiers.org/hgnc/21056 "ERMARD" 0 0 0 0 0 0 MONDO:0017231 "erythropoietic uroporphyria associated with myeloid malignancy" 0 3 0 0 0 0 MONDO:0010813 "pancreatic beta cell agenesis with neonatal diabetes mellitus" 0 4 0 0 0 0 -MONDO:0001205 "hypersecretion glaucoma" 0 5 0 0 0 0 +MONDO:0001205 "hypersecretion glaucoma" 0 4 0 0 0 0 MONDO:0035112 "acute myeloid leukemia with BCR-ABL1" 0 2 0 0 0 0 GO:1903796 "negative regulation of inorganic anion transmembrane transport" 1 0 0 0 0 1 MONDO:0017779 "alpha-N-acetylgalactosaminidase deficiency" 1 6 0 0 0 1 @@ -35107,7 +35119,7 @@ UBERON:2001544 "sublingual cartilage" 0 0 0 0 0 0 CHR:9606-chr3q13 "3q13 (Human)" 0 0 0 0 0 0 MONDO:0016819 "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome" 1 2 0 0 0 0 MONDO:0013663 "platelet-activating factor acetylhydrolase deficiency" 0 4 0 0 0 0 -MONDO:0010806 "retinitis pigmentosa 13" 1 6 0 0 0 1 +MONDO:0010806 "retinitis pigmentosa 13" 1 5 0 0 0 1 http://identifiers.org/hgnc/26703 "SYNE4" 0 0 0 0 0 0 GO:0002262 "myeloid cell homeostasis" 1 0 0 0 0 0 NCBITaxon:6685 "Penaeidae" 0 1 0 0 0 0 @@ -35150,7 +35162,7 @@ UBERON:0002523 "tunica intima" 0 0 0 0 0 0 MONDO:0020769 "Menke-Hennekam syndrome 2" 0 1 0 0 0 0 http://identifiers.org/hgnc/10959 "SLCO1B1" 0 0 0 0 0 0 http://identifiers.org/hgnc/9823 "RAD51D" 0 0 0 0 0 0 -MONDO:0005150 "age-related macular degeneration" 1 13 0 0 0 0 +MONDO:0005150 "age-related macular degeneration" 1 12 0 0 0 0 NCBITaxon:194924 "Desulfovibrionaceae" 0 2 0 0 0 0 http://identifiers.org/hgnc/2260 "COX10" 0 0 0 0 0 0 MONDO:0030909 "intellectual disability, X-linked, syndromic, Houge type" 0 3 0 0 0 0 @@ -35159,16 +35171,16 @@ NCBITaxon:11040 "Rubivirus" 0 1 0 0 0 0 UBERON:0004998 "mucosa of pylorus" 0 0 0 0 0 1 GO:0051193 "obsolete regulation of cofactor metabolic process" 1 0 0 0 0 0 GO:0043084 "penile erection" 1 0 0 0 0 0 -MONDO:0012273 "autosomal recessive nonsyndromic hearing loss 48" 1 5 0 0 0 1 +MONDO:0012273 "autosomal recessive nonsyndromic hearing loss 48" 1 4 0 0 0 1 MONDO:0015704 "familial scaphocephaly syndrome" 0 3 0 0 0 0 MONDO:0011658 "autosomal recessive early-onset Parkinson disease 7" 1 5 0 0 0 1 GO:0000003 "reproduction" 1 0 0 0 0 0 -MONDO:0002724 "mast cell neoplasm" 1 7 0 0 0 1 +MONDO:0002724 "mast cell neoplasm" 1 6 0 0 0 1 CL:0002616 "perirenal adipocyte cell" 1 0 0 0 0 1 MONDO:0009854 "peroneus tertius muscle, absence of" 0 1 0 0 0 0 UBERON:0002731 "vestibulocochlear nerve root" 0 0 0 0 0 1 UBERON:0001460 "arm" 0 0 0 0 0 0 -MONDO:0004674 "chorioretinitis" 1 10 0 0 0 0 +MONDO:0004674 "chorioretinitis" 1 8 0 0 0 0 MONDO:0043085 "chromosome 1, uniparental disomy 1q12 q21" 0 3 0 0 0 0 NCBITaxon:85552 "Scylla paramamosain" 0 1 0 0 0 0 MONDO:0017215 "calciphylaxis" 1 10 0 0 0 0 @@ -35190,7 +35202,7 @@ CL:0000118 "basket cell" 1 0 0 0 0 1 UBERON:0005040 "mucosa of terminal bronchiole" 0 0 0 0 0 1 MONDO:0001847 "nuclear senile cataract" 1 3 0 0 0 1 http://identifiers.org/hgnc/4189 "GCDH" 0 0 0 0 0 0 -MONDO:0001510 "lateral displacement of eye" 0 5 0 0 0 0 +MONDO:0001510 "lateral displacement of eye" 0 4 0 0 0 0 PO:0030108 "berry fruit" 1 1 0 0 0 0 NCBITaxon:11216 "Human respirovirus 3" 0 1 0 0 0 0 MONDO:0009786 "optic atrophy 6" 0 5 0 0 0 0 @@ -35211,7 +35223,7 @@ ECTO:0000259 "exposure to glucocorticoid" 1 0 0 0 0 1 MONDO:0011635 "goiter, multinodular 3" 0 3 0 0 0 0 UBERON:0010186 "male urethral gland" 0 0 0 0 0 1 UBERON:0000390 "lens nucleus" 0 0 0 0 0 1 -MONDO:0700092 "neurodevelopmental disorder" 1 5 0 0 0 0 +MONDO:0700092 "neurodevelopmental disorder" 1 6 0 0 0 0 UBERON:0001223 "left ureter" 0 0 0 0 0 1 MONDO:0012436 "neonatal diabetes mellitus with congenital hypothyroidism" 1 5 0 0 0 0 GO:0050995 "negative regulation of lipid catabolic process" 1 0 0 0 0 1 @@ -35219,7 +35231,7 @@ UBERON:0002102 "forelimb" 0 0 0 0 0 1 ENVO:01001785 "land"@en 1 0 0 0 0 0 MONDO:0006272 "low grade fibromyxoid sarcoma" 1 6 0 0 0 1 MONDO:0015402 "mandibular arteriovenous malformation" 1 3 0 0 0 0 -MONDO:0002109 "pituitary cancer" 1 10 0 0 0 1 +MONDO:0002109 "pituitary cancer" 1 9 0 0 0 1 CL:0000506 "enkephalin secreting cell" 1 0 0 0 0 0 GO:0033003 "regulation of mast cell activation" 1 0 0 0 0 1 MONDO:0020211 "syndromic keratoconus" 1 2 0 0 0 1 @@ -35230,6 +35242,7 @@ MONDO:0023147 "fetal parainfluenza virus type 3 syndrome" 1 1 0 0 0 1 NCBITaxon:4858 "Basidiobolaceae" 0 1 0 0 0 0 http://identifiers.org/hgnc/17192 "TIRAP" 0 0 0 0 0 0 FOODON:00001916 "grain based alcoholic beverage"@en 0 0 0 0 0 1 +MONDO:0100491 "generalized pustular psoriasis" 1 3 0 0 0 0 http://identifiers.org/hgnc/6502 "RPSA" 0 0 0 0 0 0 CL:0000117 "CNS neuron (sensu Vertebrata)" 0 0 0 0 0 0 GO:0098813 "nuclear chromosome segregation" 1 0 0 0 0 0 @@ -35266,7 +35279,7 @@ GO:0062149 "detection of stimulus involved in sensory perception of pain" 1 0 0 MONDO:0006505 "basal ganglia cerebrovascular disorder" 1 4 0 0 0 1 UBERON:0013645 "gular gland" 0 0 0 0 0 1 UBERON:0002072 "hypodermis" 0 0 0 0 0 0 -MONDO:0011067 "autosomal recessive nonsyndromic hearing loss 12" 1 5 0 0 0 1 +MONDO:0011067 "autosomal recessive nonsyndromic hearing loss 12" 1 4 0 0 0 1 ENVO:01000319 "rocky slope" 1 0 0 0 0 1 UBERON:0005087 "tooth placode" 0 0 0 0 0 1 http://identifiers.org/hgnc/3214 "EEF2" 0 0 0 0 0 0 @@ -35282,7 +35295,7 @@ MONDO:0011109 "multiple epiphyseal dysplasia, Lowry type" 1 6 0 0 0 0 UBERON:0001535 "vertebral artery" 0 0 0 0 0 0 UBERON:0009974 "lumen of Rathke's pouch" 0 0 0 0 0 1 MONDO:0014074 "Charcot-Marie-Tooth disease dominant intermediate F" 1 6 0 0 0 0 -MONDO:0007972 "Meniere disease" 1 11 0 0 0 0 +MONDO:0007972 "Meniere disease" 1 9 0 0 0 0 GO:0051240 "positive regulation of multicellular organismal process" 1 0 0 0 0 1 UBERON:0006964 "pars distalis of adenohypophysis" 0 0 0 0 0 0 http://identifiers.org/hgnc/4326 "GLRA1" 0 0 0 0 0 0 @@ -35308,12 +35321,12 @@ UBERON:0022355 "basal layer of endometrium" 0 0 0 0 0 1 CL:0000059 "ameloblast" 1 2 0 0 0 0 GO:0071830 "triglyceride-rich lipoprotein particle clearance" 1 0 0 0 0 0 MONDO:0016689 "gemistocytic astrocytoma" 1 7 0 0 0 0 -MONDO:0018469 "pulmonary non-tuberculous mycobacterial infection" 0 4 0 0 0 0 +MONDO:0018469 "pulmonary non-tuberculous mycobacterial infection" 0 3 0 0 0 0 UBERON:0002810 "right frontal lobe" 0 0 0 0 0 1 MONDO:0009190 "epiphyseal dysplasia of femoral head, myopia, and deafness" 0 3 0 0 0 0 MONDO:0015688 "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2" 0 4 0 0 0 0 http://identifiers.org/hgnc/23631 "NPSR1" 0 0 0 0 0 0 -MONDO:0014540 "amelogenesis imperfecta type 1H" 1 6 0 0 0 1 +MONDO:0014540 "amelogenesis imperfecta type 1H" 1 5 0 0 0 1 GO:0010986 "positive regulation of lipoprotein particle clearance" 1 0 0 0 0 1 MONDO:0026729 "congenital disorder of glycosylation, type ICC" 0 1 0 0 0 0 MONDO:0011755 "senior-loken syndrome 3" 0 4 0 0 0 0 @@ -35330,7 +35343,7 @@ MONDO:0012811 "aneurysm, intracranial berry, 8" 0 4 0 0 0 0 ECTO:4000032 "exposure to decreased water temperature" 1 0 0 0 0 0 MONDO:0013165 "hereditary spastic paraplegia 45" 1 6 0 0 0 1 MONDO:0020712 "46,XY sex reversal 1" 0 2 0 0 0 1 -MONDO:0005709 "common cold" 1 8 0 0 0 0 +MONDO:0005709 "common cold" 1 7 0 0 0 0 MONDO:0010418 "hereditary spastic paraplegia 34" 1 7 0 0 0 0 MONDO:0000429 "autosomal genetic disease" 1 4 0 0 0 0 MONDO:0010071 "obsolete spondyloenchondrodysplasia" 0 0 0 0 0 0 @@ -35340,7 +35353,7 @@ http://identifiers.org/hgnc/8819 "PDXK" 0 0 0 0 0 0 HP:0002829 "Arthralgia" 1 3 0 0 0 0 MONDO:0005581 "AVL induced bursal lymphoma" 1 1 0 0 0 0 MONDO:0017288 "DICER1 syndrome" 1 10 0 0 0 0 -MONDO:0002087 "peritoneum cancer" 1 8 0 0 0 1 +MONDO:0002087 "peritoneum cancer" 1 7 0 0 0 1 GO:0060784 "regulation of cell proliferation involved in tissue homeostasis" 1 0 0 0 0 1 UBERON:0002213 "cartilaginous joint" 0 0 0 0 0 1 http://identifiers.org/hgnc/7675 "NDN" 0 0 0 0 0 0 @@ -35358,7 +35371,7 @@ HP:0000315 "Abnormality of the orbital region" 0 1 0 0 0 0 GO:1905879 "regulation of oogenesis" 1 0 0 0 0 1 GO:0060300 "regulation of cytokine activity" 1 0 0 0 0 1 MONDO:0001147 "meningocele" 1 9 0 0 0 0 -MONDO:0005711 "congenital diaphragmatic hernia" 1 14 0 0 0 0 +MONDO:0005711 "congenital diaphragmatic hernia" 1 11 0 0 0 0 MONDO:0044644 "congenital agenesis of the scrotum" 0 1 0 0 0 0 MONDO:0024642 "gastric neuroendocrine tumor G2" 1 2 0 0 0 1 http://identifiers.org/hgnc/3057 "DTNA" 0 0 0 0 0 0 @@ -35389,12 +35402,12 @@ MONDO:0008156 "autosomal dominant osteopetrosis 2" 1 7 0 0 0 0 MONDO:0021060 "RASopathy" 1 2 0 0 0 1 MONDO:0044328 "short-rib thoracic dysplasia 20 with polydactyly" 1 2 0 0 0 0 PATO:0000998 "viscous" 1 0 0 0 0 0 -MONDO:0002099 "Histoplasma capsulatum infectious disease" 1 5 0 0 0 1 +MONDO:0002099 "Histoplasma capsulatum infectious disease" 1 4 0 0 0 1 MONDO:0000544 "mucosal melanoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/13890 "ITCH" 0 0 0 0 0 0 http://identifiers.org/hgnc/6460 "KRT83" 0 0 0 0 0 0 NCBITaxon:84529 "Metagonimus yokogawai" 0 1 0 0 0 0 -MONDO:0010731 "Simpson-Golabi-Behmel syndrome" 1 8 0 0 0 0 +MONDO:0010731 "Simpson-Golabi-Behmel syndrome" 1 9 0 0 0 0 MONDO:0002580 "orbit rhabdomyosarcoma" 1 5 0 0 0 1 http://identifiers.org/hgnc/6462 "KRT85" 0 0 0 0 0 0 UBERON:0001716 "secondary palate" 0 0 0 0 0 0 @@ -35418,7 +35431,7 @@ MONDO:0016237 "diffuse neonatal hemangiomatosis" 1 5 0 0 0 0 MONDO:0002180 "obsolete gestational choriocarcinoma" 0 0 0 0 0 0 MONDO:0016192 "qualitative or quantitative defects of telethonin" 0 1 0 0 0 1 http://identifiers.org/hgnc/2698 "DBT" 0 0 0 0 0 0 -MONDO:0001037 "ring corneal ulcer" 0 5 0 0 0 0 +MONDO:0001037 "ring corneal ulcer" 0 4 0 0 0 0 MONDO:0015509 "genetic biliary tract disease" 1 2 0 0 0 1 HP:0001257 "Spasticity" 1 4 0 0 0 0 NCBITaxon:29263 "tick-borne encephalitis virus group" 0 1 0 0 0 0 @@ -35428,14 +35441,14 @@ UBERON:0001744 "lymphoid tissue" 0 0 0 0 0 0 http://identifiers.org/hgnc/29007 "FRMPD4" 0 0 0 0 0 0 MONDO:0000644 "cervical benign neoplasm" 1 4 0 0 0 1 MONDO:0044660 "menstrual cycle-dependent periodic fever" 0 3 0 0 0 0 -MONDO:0004995 "cardiovascular disorder" 1 20 0 0 0 1 +MONDO:0004995 "cardiovascular disorder" 1 21 0 0 0 1 MONDO:0017132 "hereditary ATTR amyloidosis" 0 2 0 0 0 0 MONDO:0019435 "rheumatoid factor-positive polyarticular juvenile idiopathic arthritis" 1 4 0 0 0 0 HsapDv:0000137 "43-year-old human stage" 1 0 0 0 0 0 MONDO:0008295 "sporadic porphyria cutanea tarda" 1 8 0 0 0 1 GO:0045932 "negative regulation of muscle contraction" 1 0 0 0 0 1 CHEBI:76815 "EC 2.7.7.* (nucleotidyltransferase) inhibitor" 1 0 0 0 0 0 -MONDO:0002317 "central nervous system origin vertigo" 1 6 0 0 0 0 +MONDO:0002317 "central nervous system origin vertigo" 1 4 0 0 0 0 MONDO:0017577 "spontaneous periodic hypothermia" 1 5 0 0 0 0 MONDO:0000334 "multinodular goiter" 1 9 0 0 0 0 MONDO:0004220 "endometrial endometrioid adenocarcinoma with spindled epithelial cells" 1 3 0 0 0 0 @@ -35467,7 +35480,7 @@ ENVO:01000406 "snow" 1 0 0 0 0 0 UBERON:0001007 "digestive system" 0 0 0 0 0 1 HP:0000750 "Delayed speech and language development" 1 9 0 0 0 0 MONDO:0011796 "epilepsy, partial, with pericentral spikes" 0 3 0 0 0 0 -MONDO:0009451 "Nezelof syndrome" 0 9 0 0 0 0 +MONDO:0009451 "Nezelof syndrome" 0 8 0 0 0 0 MONDO:0005341 "skin basal cell carcinoma" 1 19 0 0 0 1 MONDO:0004058 "pancreatic cholera" 1 4 0 0 0 0 MONDO:0013400 "Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency" 1 7 0 0 0 0 @@ -35512,8 +35525,8 @@ GO:0050839 "cell adhesion molecule binding" 1 0 0 0 0 0 MONDO:0033655 "mitochondrial complex 4 deficiency, nuclear type 20" 0 1 0 0 0 0 GO:0046835 "carbohydrate phosphorylation" 1 0 0 0 0 0 MONDO:0008331 "obsolete pseudopapilledema" 1 7 0 0 0 0 -MONDO:0001377 "vitreous syneresis" 0 5 0 0 0 0 -MONDO:0006868 "neurogenic bowel" 1 8 0 0 0 0 +MONDO:0001377 "vitreous syneresis" 0 4 0 0 0 0 +MONDO:0006868 "neurogenic bowel" 1 7 0 0 0 0 MONDO:0033969 "inflammatory bowel disease-recurrent sinopulmonary infections syndrome" 0 1 0 0 0 0 MONDO:0024240 "eccrine carcinoma" 1 7 0 0 0 1 HP:0100533 "Inflammatory abnormality of the eye" 1 1 0 0 0 0 @@ -35535,9 +35548,10 @@ ENVO:01001618 "ice accumulation process"@en 1 0 0 0 0 0 MONDO:0020480 "sulfite oxidase deficiency due to molybdenum cofactor deficiency" 0 8 0 0 0 0 GO:0099160 "postsynaptic intermediate filament cytoskeleton" 1 0 0 0 0 1 MONDO:0004173 "adenocarcinoma of skene gland origin" 1 3 0 0 0 1 -MONDO:0020145 "developmental defect of the eye" 0 1 0 0 0 1 +MONDO:0020145 "developmental defect of the eye" 0 2 0 0 0 1 MONDO:0004060 "peripheral epithelioid sarcoma" 1 3 0 0 0 0 MONDO:0011930 "epilepsy, familial adult myoclonic, 2" 1 5 0 0 0 1 +MONDO:0018186 "obsolete ring chromosome" 1 4 0 0 0 0 http://identifiers.org/hgnc/2291 "COX7B" 0 0 0 0 0 0 MONDO:0030043 "congenital disorder of glycosylation, type iit" 0 1 0 0 0 0 MONDO:0005643 "Alphavirus infectious disease" 1 3 0 0 0 1 @@ -35565,7 +35579,7 @@ MONDO:0024570 "hyperparathyroidism 4" 1 4 0 0 0 1 CL:0002504 "enteric smooth muscle cell" 1 0 0 0 0 1 GO:1905209 "positive regulation of cardiocyte differentiation" 1 0 0 0 0 1 MONDO:0015398 "hemifacial microsomia" 0 5 0 0 0 0 -MONDO:0001860 "folic acid deficiency anemia" 0 6 0 0 0 0 +MONDO:0001860 "folic acid deficiency anemia" 0 4 0 0 0 0 UBERON:4200172 "neck of humerus" 0 0 0 0 0 1 MONDO:0003394 "dental pulp disorder" 1 6 0 0 0 1 MONDO:0012397 "brachydactyly, coloboma, and anterior segment dysgenesis" 0 3 0 0 0 0 @@ -35576,7 +35590,7 @@ HP:0001608 "Abnormality of the voice" 0 1 0 0 0 0 GO:0007584 "response to nutrient" 1 0 0 0 0 0 NCBITaxon:6939 "Ixodidae" 0 1 0 0 0 0 UBERON:0001042 "chordate pharynx" 0 0 0 0 0 0 -MONDO:0001036 "hypopyon" 1 6 0 0 0 0 +MONDO:0001036 "hypopyon" 1 5 0 0 0 0 GO:2000259 "positive regulation of protein activation cascade" 1 0 0 0 0 1 MONDO:0003347 "inflammatory leiomyosarcoma" 1 3 0 0 0 0 MONDO:0011138 "systemic lupus erythematosus, susceptibility to, 1" 1 1 0 0 0 1 @@ -35597,7 +35611,7 @@ MONDO:0030602 "Klebsiella pneumonia" 1 5 0 0 0 1 NCBITaxon:1930602 "Psocodea" 0 1 0 0 0 0 UBERON:0001085 "skin of trunk" 0 0 0 0 0 1 MONDO:0022425 "alpha-thalassemia-abnormal morphogenesis" 0 1 0 0 0 0 -MONDO:0001460 "dyshormonogenic goiter" 0 5 0 0 0 0 +MONDO:0001460 "dyshormonogenic goiter" 0 4 0 0 0 0 http://identifiers.org/hgnc/430 "ALOX12B" 0 0 0 0 0 0 MONDO:0030465 "cataract 49" 0 1 0 0 0 0 MONDO:0004957 "mucinous adenocarcinoma" 1 8 0 0 0 1 @@ -35620,10 +35634,11 @@ MONDO:0024935 "foot rot" 1 2 0 0 0 0 CL:1000428 "stem cell of epidermis" 1 1 0 0 0 1 MONDO:0023581 "Kuster syndrome" 0 3 0 0 0 0 http://identifiers.org/hgnc/7473 "MTRR" 0 0 0 0 0 0 +MONDO:0700130 "partial trisomy 21" 1 0 0 0 0 1 MONDO:0029001 "obsolete chemically-induced disorder" 1 1 0 0 0 0 MONDO:0018162 "neurometabolic disorder due to serine deficiency" 1 3 0 0 0 0 CHEBI:24873 "iron molecular entity" 0 0 0 0 0 0 -MONDO:0042975 "pseudoachondroplastic dysplasia 2" 0 4 0 0 0 0 +MONDO:0042975 "pseudoachondroplastic dysplasia 2" 0 5 0 0 0 0 http://identifiers.org/hgnc/4886 "HFE" 0 0 0 0 0 0 MONDO:0018389 "obsolete male infertility due to gonadal dysgenesis or sperm disorder" 0 3 0 0 0 0 GO:0002922 "positive regulation of humoral immune response" 1 0 0 0 0 1 @@ -35700,13 +35715,13 @@ GO:0019219 "regulation of nucleobase-containing compound metabolic process" 1 0 ECTO:0000523 "exposure to mutagen" 1 0 0 0 0 1 MONDO:0013545 "atrial fibrillation, familial, 12" 1 3 0 0 0 1 UBERON:0012481 "cloacal epithelium" 0 0 0 0 0 1 -MONDO:0021146 "headache disorder" 1 2 0 0 0 1 +MONDO:0021146 "headache disorder" 1 3 0 0 0 1 MONDO:0008033 "obsolete autosomal dominant limb-girdle muscular dystrophy type 1B" 1 0 0 0 0 0 MONDO:0032833 "lower urinary tract obstruction, congenital" 0 1 0 0 0 0 CHEBI:46964 "2-aminooctadec-4-ene-1,3-diol" 1 0 0 0 0 0 MONDO:0014478 "mirror movements 3" 1 3 0 0 0 1 MONDO:0017685 "vitamin B12-responsive methylmalonic acidemia, type cblDv2" 0 4 0 0 0 0 -MONDO:0005689 "cannabis dependence" 1 13 0 0 0 0 +MONDO:0005689 "cannabis dependence" 1 10 0 0 0 0 MONDO:0023616 "obsolete familial leiomyomatosis" 0 0 0 0 0 0 MONDO:0008592 "tricho-dento-osseous syndrome" 1 9 0 0 0 0 MONDO:0015976 "hyper-IgM syndrome without susceptibility to opportunistic infections" 0 6 0 0 0 0 @@ -35718,7 +35733,7 @@ UBERON:0005691 "4th arch mesenchyme" 0 0 0 0 0 1 MONDO:0008437 "hereditary spastic paraplegia 3A" 1 8 0 0 0 1 HP:0002983 "Micromelia" 1 3 0 0 0 0 GO:0033120 "positive regulation of RNA splicing" 1 0 0 0 0 1 -MONDO:0100309 "hereditary ataxia" 1 7 0 0 0 1 +MONDO:0100309 "hereditary ataxia" 1 8 0 0 0 1 UBERON:0006058 "multi-limb segment region" 0 0 0 0 0 0 GO:0014049 "positive regulation of glutamate secretion" 1 0 0 0 0 1 UBERON:0001091 "calcareous tooth" 0 0 0 0 0 0 @@ -35733,11 +35748,11 @@ MONDO:0002450 "prostatic adenoma" 1 7 0 0 0 1 MONDO:0032592 "cardiomyopathy, dilated, 2c" 0 1 0 0 0 0 MONDO:0011196 "amyotrophic lateral sclerosis type 5" 1 6 0 0 0 1 MONDO:0004789 "cholangitis" 1 7 0 0 0 1 -MONDO:0005411 "gallbladder cancer" 1 12 0 0 0 1 +MONDO:0005411 "gallbladder cancer" 1 11 0 0 0 1 MONDO:0032845 "spermatogenic failure 39" 0 1 0 0 0 0 -MONDO:0006574 "lipomatosis" 1 9 0 0 0 0 +MONDO:0006574 "lipomatosis" 1 8 0 0 0 0 MONDO:0000938 "gastric leiomyoma" 1 4 0 0 0 1 -MONDO:0019751 "autoinflammatory syndrome" 1 5 0 0 0 0 +MONDO:0019751 "autoinflammatory syndrome" 1 6 0 0 0 0 CHEBI:36132 "alicyclic ketone" 1 0 0 0 0 0 MONDO:0018946 "rhombencephalosynapsis" 1 5 0 0 0 0 MONDO:0017169 "multiple endocrine neoplasia" 1 9 0 0 0 0 @@ -35761,13 +35776,13 @@ NCBITaxon:2585030 "unclassified Riboviria" 0 1 0 0 0 0 MONDO:0020168 "obsolete kinetic eyelid anomaly" 0 1 0 0 0 0 MONDO:0007862 "Waardenburg syndrome type 3" 1 6 0 0 0 0 UBERON:0000118 "lung bud" 0 0 0 0 0 0 -MONDO:0008272 "polysyndactyly 4" 1 11 0 0 0 0 +MONDO:0008272 "polysyndactyly 4" 1 10 0 0 0 0 MONDO:0017898 "obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" 1 3 0 0 0 0 GO:1901361 "organic cyclic compound catabolic process" 1 0 0 0 0 0 UBERON:0035483 "left suprarenal vein" 0 0 0 0 0 1 UBERON:0010090 "future falx cerebri" 0 0 0 0 0 1 UBERON:0011769 "cartilaginous projection" 0 0 0 0 0 1 -MONDO:0000988 "discharging ear" 1 6 0 0 0 0 +MONDO:0000988 "discharging ear" 1 4 0 0 0 0 GO:0048240 "sperm capacitation" 1 0 0 0 0 0 UBERON:0006260 "lingual swellings" 0 0 0 0 0 0 ENVO:01001288 "kaolin dust"@en 1 0 0 0 0 1 @@ -35783,7 +35798,7 @@ GO:0097712 "vesicle targeting, trans-Golgi to periciliary membrane compartment" MONDO:0019214 "inborn carbohydrate metabolic disorder" 1 7 0 0 0 1 CHEBI:79387 "trivalent inorganic anion" 1 0 0 0 0 0 http://identifiers.org/hgnc/19353 "SIN3A" 0 0 0 0 0 0 -MONDO:0002125 "status epilepticus" 1 8 0 0 0 0 +MONDO:0002125 "status epilepticus" 1 7 0 0 0 0 MONDO:0054615 "spermatogenic failure 18" 0 2 0 0 0 0 MONDO:0010289 "intellectual disability, X-linked 72" 0 4 0 0 0 0 MONDO:0015476 "cysts and fistulae of the face and oral cavity" 0 2 0 0 0 0 @@ -35791,7 +35806,7 @@ GO:0010558 "negative regulation of macromolecule biosynthetic process" 1 0 0 0 0 GO:0002654 "positive regulation of tolerance induction dependent upon immune response" 1 0 0 0 0 1 MONDO:0017048 "pseudomyxoma peritonei" 1 12 0 0 0 0 CL:0002086 "specialized cardiac myocyte" 1 1 0 0 0 0 -MONDO:0001321 "scleral staphyloma" 0 6 0 0 0 0 +MONDO:0001321 "scleral staphyloma" 0 5 0 0 0 0 GO:0106016 "positive regulation of inflammatory response to wounding" 1 0 0 0 0 1 UBERON:0010376 "pancreas ventral primordium" 0 0 0 0 0 1 UBERON:0010544 "metacarpus skeleton" 0 0 0 0 0 1 @@ -35810,7 +35825,7 @@ MONDO:0010561 "Coffin-Lowry syndrome" 1 12 0 0 0 0 UBERON:0001356 "medial circumflex femoral artery" 0 0 0 0 0 1 HP:0100491 "Abnormality of lower limb joint" 0 1 0 0 0 0 CL:0002341 "basal cell of prostate epithelium" 1 0 0 0 0 0 -MONDO:0017364 "POEMS syndrome" 1 10 0 0 0 0 +MONDO:0017364 "POEMS syndrome" 1 9 0 0 0 0 MONDO:0010612 "hydrocephaly-cerebellar agenesis syndrome" 1 6 0 0 0 0 MONDO:0041261 "disorder of acid-base balance" 0 2 0 0 0 1 MONDO:0020798 "hypoparathyroidism, familial isolated, 2" 0 1 0 0 0 1 @@ -35819,7 +35834,7 @@ MONDO:0009112 "rhizomelic chondrodysplasia punctata type 2" 1 8 0 0 0 1 GO:1901192 "positive regulation of formation of translation initiation ternary complex" 1 0 0 0 0 1 MONDO:0014269 "combined oxidative phosphorylation deficiency 19" 1 4 0 0 0 1 MONDO:0020521 "Ehlers-Danlos syndrome type 7A" 0 4 0 0 0 0 -MONDO:0005900 "parotitis" 1 7 0 0 0 1 +MONDO:0005900 "parotitis" 1 6 0 0 0 1 GO:0048770 "pigment granule" 1 0 0 0 0 0 MONDO:0044718 "alkaline ceramidase 3 deficiency" 0 3 0 0 0 0 MONDO:0004346 "signet ring cell intrahepatic cholangiocarcinoma" 1 3 0 0 0 1 @@ -35836,14 +35851,14 @@ MONDO:0014931 "Alazami-Yuan syndrome" 0 2 0 0 0 0 MONDO:0017871 "bilateral massive adrenal hemorrhage" 0 3 0 0 0 0 CHEBI:76738 "EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor" 1 0 0 0 0 0 MONDO:0019695 "acromelic dysplasia" 0 2 0 0 0 0 -MONDO:0019145 "hereditary thrombophilia due to congenital protein C deficiency" 1 10 0 0 0 0 +MONDO:0019145 "hereditary thrombophilia due to congenital protein C deficiency" 1 9 0 0 0 0 GO:0060249 "anatomical structure homeostasis" 1 0 0 0 0 0 UBERON:0003847 "thyroid artery" 0 0 0 0 0 1 http://identifiers.org/hgnc/15766 "ADNP" 0 0 0 0 0 0 MONDO:0700023 "chromosome 16 disorder" 1 0 0 0 0 1 MONDO:0008202 "Parotidomegaly, hereditary bilateral" 0 3 0 0 0 0 CHEBI:48377 "imidic acid" 1 0 0 0 0 0 -MONDO:0044739 "Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome" 0 2 0 0 0 0 +MONDO:0044739 "Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome" 0 1 0 0 0 0 MONDO:0033810 "isolated iridoschisis" 0 1 0 0 0 0 MONDO:0042485 "infective arthritis" 1 2 0 0 0 1 MONDO:0021339 "carcinoma of hard palate" 1 3 0 0 0 1 @@ -35857,13 +35872,13 @@ MONDO:0021180 "acquired xanthinuria" 1 0 0 0 0 1 HP:0001072 "Thickened skin" 1 5 0 0 0 0 MONDO:0006476 "undifferentiated gallbladder carcinoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/25221 "MMADHC" 0 0 0 0 0 0 -MONDO:0003664 "hemolytic anemia" 1 9 0 0 0 0 -MONDO:0002037 "pleural disorder" 1 6 0 0 0 1 -MONDO:0029000 "poisoning" 1 4 0 0 0 0 +MONDO:0003664 "hemolytic anemia" 1 8 0 0 0 0 +MONDO:0002037 "pleural disorder" 1 7 0 0 0 1 +MONDO:0029000 "poisoning" 1 7 0 0 0 0 GO:0009166 "nucleotide catabolic process" 1 0 0 0 0 0 MONDO:0012772 "Stevenson-Carey syndrome" 0 3 0 0 0 0 NCBITaxon:11676 "Human immunodeficiency virus 1" 0 1 0 0 0 0 -MONDO:0022173 "chromosome 11q trisomy" 0 1 0 0 0 1 +MONDO:0022173 "chromosome 11q trisomy" 0 3 0 0 0 1 GO:0002366 "leukocyte activation involved in immune response" 1 0 0 0 0 1 UBERON:0003444 "pelvis nerve" 0 0 0 0 0 1 GO:0071827 "plasma lipoprotein particle organization" 1 0 0 0 0 0 @@ -35892,7 +35907,7 @@ PATO:0001291 "electromagnetic (EM) radiation quality" 1 0 0 0 0 0 CHEBI:33693 "oxygen hydride" 0 0 0 0 0 0 MONDO:0008796 "aniridia-renal agenesis-psychomotor retardation syndrome" 1 7 0 0 0 0 UBERON:0006134 "nerve fiber" 0 0 0 0 0 1 -MONDO:0005489 "dyslexia" 1 13 0 0 0 0 +MONDO:0005489 "dyslexia" 1 12 0 0 0 0 UBERON:0014392 "sweat of palm" 0 0 0 0 0 1 MONDO:0023230 "Ghose-Sachdev-Kumar syndrome" 0 3 0 0 0 0 MONDO:0014499 "intellectual disability, autosomal recessive 46" 1 2 0 0 0 1 @@ -35914,7 +35929,7 @@ CL:2000078 "placental pericyte" 1 0 0 0 0 1 MONDO:0012203 "familial hyperthyroidism due to mutations in TSH receptor" 1 6 0 0 0 0 MONDO:0034976 "iatrogenic Creutzfeldt-Jakob disease" 0 1 0 0 0 1 MONDO:0021948 "cutaneous tuberculosis" 0 3 0 0 0 1 -MONDO:0007349 "familial cold autoinflammatory syndrome 1" 1 6 0 0 0 1 +MONDO:0007349 "familial cold autoinflammatory syndrome 1" 1 5 0 0 0 1 MONDO:0005522 "small intestine carcinoma" 1 5 0 0 0 1 MONDO:0008509 "distal symphalangism" 1 6 0 0 0 0 MONDO:0007489 "dysplasia epiphysealis hemimelica" 1 8 0 0 0 0 @@ -35957,7 +35972,8 @@ MONDO:0032942 "neurodevelopmental disorder with microcephaly and dysmorphic faci MONDO:0011838 "Bothnia retinal dystrophy" 1 7 0 0 0 0 UBERON:0009978 "epicondyle" 0 0 0 0 0 0 MONDO:0016498 "acute pure sensory neuropathy" 0 3 0 0 0 0 -MONDO:0006003 "uterine corpus cancer" 1 7 0 0 0 1 +MONDO:0006003 "uterine corpus cancer" 1 5 0 0 0 1 +MONDO:0020060 "obsolete gonosome structural anomaly" 0 1 0 0 0 0 MONDO:0016806 "maternally-inherited mitochondrial dystonia" 1 4 0 0 0 0 UBERON:0000415 "artery wall" 0 0 0 0 0 1 GO:0050790 "regulation of catalytic activity" 1 0 0 0 0 1 @@ -35978,6 +35994,7 @@ NCIT:C36843 "Abnormal Connective and Soft Tissue Cell" 0 0 0 0 0 0 MONDO:0024532 "otofaciocervical syndrome 1" 1 4 0 0 0 1 NCBITaxon:4069 "Solanales" 0 1 0 0 0 0 MONDO:0100445 "LCA5-related retinopathy" 1 0 0 0 0 0 +MONDO:0020055 "obsolete autosomal uniparental disomy" 0 3 0 0 0 0 http://identifiers.org/hgnc/3705 "FIBP" 0 0 0 0 0 0 MONDO:0014856 "combined oxidative phosphorylation defect type 30" 1 5 0 0 0 1 HP:0025270 "Abnormality of esophagus physiology" 1 0 0 0 0 0 @@ -36024,7 +36041,7 @@ UBERON:0000463 "organism substance"@en 2 0 0 0 0 0 UBERON:0000463 "organism substance" 2 0 0 0 0 0 MONDO:0011716 "acute hemorrhagic leukoencephalitis" 1 9 0 0 0 0 MONDO:0010232 "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked" 1 5 0 0 0 0 -MONDO:0022714 "chester porphyria" 1 1 0 0 0 0 +MONDO:0022714 "chester porphyria" 1 2 0 0 0 0 MONDO:0010011 "schizencephaly" 1 7 0 0 0 0 MONDO:0005503 "developmental disorder of mental health" 1 4 0 0 0 0 MONDO:0007751 "hypercholesterolemia, autosomal dominant, type B" 0 2 0 0 0 1 @@ -36044,7 +36061,7 @@ MONDO:0010495 "trichothiodystrophy 5, nonphotosensitive" 1 2 0 0 0 1 GO:0099547 "regulation of translation at synapse, modulating synaptic transmission" 1 0 0 0 0 1 UBERON:0001072 "posterior vena cava" 0 0 0 0 0 1 NCBITaxon:2683628 "Bigyra" 0 1 0 0 0 0 -MONDO:0008487 "polycystic ovary syndrome" 1 10 0 0 0 0 +MONDO:0008487 "polycystic ovary syndrome" 1 9 0 0 0 0 MONDO:0020346 "synaptic congenital myasthenic syndrome" 0 3 0 0 0 0 UBERON:0001231 "nephron tubule" 0 0 0 0 0 0 NCBITaxon:747 "Pasteurella multocida" 0 2 0 0 0 0 @@ -36062,7 +36079,7 @@ MONDO:0004616 "herpetic whitlow" 1 5 0 0 0 1 MONDO:0016372 "glossopharyngeal neuralgia" 1 8 0 0 0 1 GO:0030263 "apoptotic chromosome condensation" 1 0 0 0 0 0 MONDO:0005501 "congenital disorder of glycosylation type II" 1 20 0 0 0 0 -MONDO:0013828 "hyperekplexia 2" 1 5 0 0 0 1 +MONDO:0013828 "hyperekplexia 2" 1 4 0 0 0 1 NCBITaxon:29461 "Brucella suis" 0 1 0 0 0 0 GO:1902495 "transmembrane transporter complex" 1 0 0 0 0 0 MONDO:0030335 "diarrhea 12, with microvillus atrophy" 0 1 0 0 0 0 @@ -36099,7 +36116,7 @@ MONDO:0020522 "Ehlers-Danlos syndrome type 7B" 0 10 0 0 0 0 UBERON:0012241 "male urethral meatus" 0 0 0 0 0 1 NCBITaxon:138950 "Enterovirus C" 0 1 0 0 0 0 NCBITaxon:138951 "Enterovirus D" 0 1 0 0 0 0 -MONDO:0010843 "dyslexia, susceptibility to, 2" 0 1 0 0 0 0 +MONDO:0010843 "dyslexia, susceptibility to, 2" 0 1 0 0 0 1 PATO:0001374 "ploidy" 1 0 0 0 0 0 MONDO:0011373 "urinary tract infections, recurrent, susceptibility to" 0 1 0 0 0 0 MONDO:0030999 "neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism" 0 1 0 0 0 0 @@ -36119,7 +36136,7 @@ HP:0004370 "Abnormality of temperature regulation" 1 3 0 0 0 0 MONDO:0021542 "hemangioma of choroid" 1 4 0 0 0 1 MONDO:0013368 "mammary-digital-nail syndrome" 1 5 0 0 0 0 MONDO:0024193 "portal hypertension, noncirrhotic" 0 1 0 0 0 0 -MONDO:0004594 "puerperal pulmonary embolism" 0 7 0 0 0 0 +MONDO:0004594 "puerperal pulmonary embolism" 0 5 0 0 0 0 CHEBI:26873 "terpenoid" 1 0 0 0 0 0 http://identifiers.org/hgnc/4893 "HGF" 0 0 0 0 0 0 UBERON:0009657 "artery of lip" 0 0 0 0 0 1 @@ -36131,18 +36148,17 @@ NCBITaxon:170 "Leptospiraceae" 0 2 0 0 0 0 HP:0001637 "Abnormal myocardium morphology" 1 1 0 0 0 0 MONDO:0032780 "hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities" 0 1 0 0 0 0 CL:0008019 "mesenchymal cell" 1 0 0 0 0 0 -MONDO:0014363 "autosomal recessive nonsyndromic hearing loss 101" 1 5 0 0 0 1 +MONDO:0014363 "autosomal recessive nonsyndromic hearing loss 101" 1 4 0 0 0 1 MONDO:0015923 "acquired peripheral neuropathy" 1 1 0 0 0 1 MONDO:0021038 "Ewing sarcoma/peripheral primitive neuroectodermal tumor" 1 3 0 0 0 0 GO:0001979 "regulation of systemic arterial blood pressure by chemoreceptor signaling" 1 0 0 0 0 0 MONDO:0018099 "obsolete Whipple disease" 0 0 0 0 0 0 -MONDO:0001748 "maxillary sinus carcinoma" 1 6 0 0 0 1 +MONDO:0001748 "maxillary sinus carcinoma" 1 5 0 0 0 1 CHEBI:23334 "cobalamins" 0 0 0 0 0 0 -MONDO:0008432 "ketone compounds, ability to smell" 0 1 0 0 0 0 MONDO:0015954 "obsolete rare genetic headache disorder" 0 2 0 0 0 0 MONDO:0004214 "ovarian endometrioid cystadenofibroma" 1 3 0 0 0 1 CHEBI:76712 "EC 4.2.* (C-O lyase) inhibitor" 1 0 0 0 0 0 -MONDO:0008608 "Down syndrome" 1 17 0 0 0 0 +MONDO:0008608 "Down syndrome" 1 16 0 0 0 0 UBERON:0001044 "saliva-secreting gland" 0 0 0 0 0 1 NCBITaxon:1239 "Firmicutes" 0 8 0 0 0 0 MONDO:0020415 "Kommerell diverticulum" 1 3 0 0 0 0 @@ -36160,7 +36176,7 @@ UBERON:0004370 "anterior limiting lamina of cornea" 0 0 0 0 0 1 NCBITaxon:1399770 "Entomophthoromycetes" 0 1 0 0 0 0 NCBITaxon:4081 "Solanum lycopersicum" 0 1 0 0 0 0 UBERON:0002443 "choroidal blood vessel" 0 0 0 0 0 1 -MONDO:0011438 "acne" 1 10 0 0 0 0 +MONDO:0011438 "acne" 1 7 0 0 0 0 MONDO:0022772 "classic Kaposi sarcoma" 1 2 0 0 0 0 CHEBI:25442 "mycotoxin" 1 0 0 0 0 0 MONDO:0043230 "ciguatera fish poisoning" 1 3 0 0 0 0 @@ -36174,7 +36190,7 @@ NCBITaxon:33340 "Neoptera" 0 1 0 0 0 0 MONDO:0043472 "ectopic ACTH secretion syndrome" 1 4 0 0 0 0 MONDO:0001623 "cicatricial lagophthalmos" 0 5 0 0 0 0 ENVO:00002114 "chemically enriched sediment" 1 0 0 0 0 1 -MONDO:0018902 "hepatocellular adenoma" 1 12 0 0 0 0 +MONDO:0018902 "hepatocellular adenoma" 1 11 0 0 0 0 MONDO:0010778 "cyclic vomiting syndrome" 1 2 0 0 0 0 MONDO:0017398 "3MC syndrome" 1 10 0 0 0 0 MONDO:0008594 "familial multiple discoid fibromas" 1 5 0 0 0 0 @@ -36202,7 +36218,7 @@ http://identifiers.org/hgnc/6547 "LDLR" 0 0 0 0 0 0 MONDO:0017639 "carbon monoxide-induced parkinsonism" 0 4 0 0 0 1 MONDO:0100453 "GUCY2D-related recessive retinopathy" 1 0 0 0 0 0 MONDO:0024501 "appendix neuroendocrine neoplasm" 1 1 0 0 0 1 -MONDO:0002047 "pulmonary systemic sclerosis" 0 5 0 0 0 0 +MONDO:0002047 "pulmonary systemic sclerosis" 0 4 0 0 0 0 GO:1902742 "apoptotic process involved in development" 1 0 0 0 0 1 MONDO:0003382 "eyelid disorder" 1 8 0 0 0 1 UBERON:0014395 "proximal mesopodial bone" 0 0 0 0 0 1 @@ -36253,7 +36269,7 @@ CHEBI:35352 "organonitrogen compound" 1 0 0 0 0 0 UBERON:0005291 "embryonic tissue" 0 0 0 0 0 1 UBERON:0012418 "respiratory system venous smooth muscle" 0 0 0 0 0 1 UBERON:0016399 "lymph node of upper limb" 0 0 0 0 0 1 -MONDO:0018874 "acute myeloid leukemia" 1 18 0 0 0 1 +MONDO:0018874 "acute myeloid leukemia" 1 16 0 0 0 1 HP:0003474 "Somatic sensory dysfunction" 1 5 0 0 0 0 MONDO:0014980 "cone-rod dystrophy and hearing loss" 0 3 0 0 0 0 MONDO:0023483 "infectious myositis" 1 4 0 0 0 0 @@ -36298,7 +36314,7 @@ MONDO:0011358 "blue nevi, familial multiple" 0 3 0 0 0 0 MONDO:0018706 "syndromic sensorineural deafness due to combined oxidative phosphorylation defect" 0 3 0 0 0 0 MONDO:0009800 "Blount disease, adolescent" 0 3 0 0 0 0 MONDO:0000540 "small intestinal neuroendocrine tumor G1" 1 4 0 0 0 1 -MONDO:0005575 "colorectal cancer" 1 27 0 0 0 1 +MONDO:0005575 "colorectal cancer" 1 26 0 0 0 1 HsapDv:0000103 "9-year-old human stage" 1 0 0 0 0 0 MONDO:0017788 "contractures - webbed neck - micrognathia - hypoplastic nipples syndrome" 0 2 0 0 0 0 CL:0000185 "myoepithelial cell" 1 3 0 0 0 0 @@ -36324,6 +36340,7 @@ PATO:0002181 "displaced" 1 0 0 0 0 0 UBERON:0002146 "pulmonary valve" 0 0 0 0 0 1 MONDO:0016721 "pineal tumor of neuroepithelial tissue" 0 2 0 0 0 0 MONDO:0002151 "obsolete dysostosis" 0 0 0 0 0 0 +MONDO:0020053 "obsolete total autosomal monosomy" 0 3 0 0 0 0 CL:1000454 "kidney collecting duct epithelial cell" 1 2 0 0 0 1 MONDO:0005257 "advanced heart failure" 1 2 0 0 0 0 http://identifiers.org/hgnc/7501 "MT-TW" 0 0 0 0 0 0 @@ -36335,7 +36352,7 @@ GO:0015718 "monocarboxylic acid transport" 1 0 0 0 0 0 MONDO:0022981 "die Smulders droog van dijk syndrome" 0 1 0 0 0 0 MONDO:0010951 "dilated cardiomyopathy 1B" 1 4 0 0 0 0 UBERON:0013472 "upper esophagus" 0 0 0 0 0 0 -MONDO:0005649 "appendicitis" 1 9 0 0 0 1 +MONDO:0005649 "appendicitis" 1 8 0 0 0 1 HP:0012440 "Abnormal biliary tract morphology" 1 1 0 0 0 0 MONDO:0006298 "mediastinal malignant germ cell tumor" 1 4 0 0 0 1 UBERON:0001272 "innominate bone" 0 0 0 0 0 0 @@ -36374,7 +36391,6 @@ MONDO:0700011 "chromosome 4 disorder" 1 0 0 0 0 1 MONDO:0020749 "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1" 0 1 0 0 0 0 NCBITaxon:41665 "Neopterygii" 0 1 0 0 0 0 MONDO:0013743 "autosomal systemic lupus erythematosus type 16" 1 4 0 0 0 1 -MONDO:0007331 "cleft chin" 0 1 0 0 0 0 UBERON:0015783 "smooth muscle layer in fatty layer of subcutaneous tissue" 0 0 0 0 0 1 UBERON:2002260 "premaxillary-maxillary joint" 0 0 0 0 0 1 MONDO:0020007 "absence of the pulmonary artery" 1 3 0 0 0 0 @@ -36403,7 +36419,7 @@ MONDO:0005676 "borna disease" 1 4 0 0 0 1 MONDO:0016509 "microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome" 0 4 0 0 0 0 MONDO:0003329 "ureteral obstruction" 1 5 0 0 0 0 MONDO:0024236 "obsolete degenerative disorder" 1 4 0 0 0 0 -MONDO:0010827 "retinitis pigmentosa 14" 1 5 0 0 0 1 +MONDO:0010827 "retinitis pigmentosa 14" 1 4 0 0 0 1 CL:0009004 "retinal cell" 1 1 0 0 0 1 GO:0099738 "cell cortex region" 1 0 0 0 0 1 MONDO:0019505 "hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome" 1 6 0 0 0 0 @@ -36437,7 +36453,7 @@ MONDO:0100165 "permanent neonatal diabetes mellitus 1" 1 1 0 0 0 1 MONDO:0010340 "Asperger syndrome, X-linked, susceptibility to, 1" 0 2 0 0 0 1 MONDO:0002514 "hepatobiliary neoplasm" 1 4 0 0 0 1 MONDO:0006018 "Wissler syndrome" 1 4 0 0 0 0 -MONDO:0011547 "cataract 31 multiple types" 1 7 0 0 0 1 +MONDO:0011547 "cataract 31 multiple types" 1 6 0 0 0 1 MONDO:0024360 "central sleep apnea caused by high altitude" 0 2 0 0 0 0 CL:0000816 "immature B cell" 1 0 0 0 0 0 UBERON:0007807 "connecting stalk vasculature" 0 0 0 0 0 1 @@ -36448,7 +36464,7 @@ MONDO:0007697 "hand clasping pattern" 0 1 0 0 0 0 MONDO:0005196 "obsolete teratozoospermia" 1 4 0 0 0 0 UBERON:0004085 "labium majora" 0 0 0 0 0 0 MONDO:0018799 "obsolete rare hypercholesterolemia" 1 2 0 0 0 0 -MONDO:0006496 "palsy" 1 3 0 0 0 0 +MONDO:0006496 "palsy" 1 4 0 0 0 0 MONDO:0013625 "Parkinson disease 17" 1 4 0 0 0 1 CHEBI:23357 "cofactor" 1 0 0 0 0 0 UBERON:0003404 "lobar bronchus of right lung" 0 0 0 0 0 1 @@ -36465,7 +36481,7 @@ UBERON:0011875 "ligament of sternoclavicular joint" 0 0 0 0 0 1 CHR:9606-chr19p1 "19p1 (Human)" 0 0 0 0 0 0 http://identifiers.org/hgnc/16510 "FBXO31" 0 0 0 0 0 0 UBERON:0010083 "future dermis" 0 0 0 0 0 1 -MONDO:0007639 "fundus albipunctatus" 1 10 0 0 0 0 +MONDO:0007639 "fundus albipunctatus" 1 9 0 0 0 0 UBERON:0015054 "iliac endochondral element" 0 0 0 0 0 1 MONDO:0023305 "heavy metal poisoning" 1 5 0 0 0 0 GO:1902622 "regulation of neutrophil migration" 1 0 0 0 0 1 @@ -36507,7 +36523,7 @@ GO:0007420 "brain development" 1 0 0 0 0 0 UBERON:0003473 "thoracic cavity artery" 0 0 0 0 0 1 ENVO:00000012 "hydrographic feature" 1 0 0 0 0 1 PATO:0002045 "dendritic" 1 0 0 0 0 0 -MONDO:0001918 "epiphora due to excess lacrimation" 0 5 0 0 0 0 +MONDO:0001918 "epiphora due to excess lacrimation" 0 4 0 0 0 0 MONDO:0100304 "disorder of bile acid aminotransferase" 1 0 0 0 0 0 CL:1001581 "lateral ventricle glial cell" 1 1 0 0 0 1 MONDO:0035357 "portosinusoidal vascular disease" 0 2 0 0 0 0 @@ -36530,20 +36546,20 @@ MONDO:0014906 "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a http://identifiers.org/hgnc/2976 "DNMT1" 0 0 0 0 0 0 MONDO:0006387 "primary pulmonary diffuse large B-cell lymphoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/7208 "MPDZ" 0 0 0 0 0 0 -MONDO:0009016 "band keratopathy" 1 8 0 0 0 0 +MONDO:0009016 "band keratopathy" 1 7 0 0 0 0 MONDO:0012181 "hereditary spastic paraplegia 27" 1 6 0 0 0 0 MONDO:0016899 "Duchenne and Becker muscular dystrophy" 1 3 0 0 0 0 http://identifiers.org/hgnc/30922 "LINS1" 0 0 0 0 0 0 MONDO:0054761 "microcephaly 20, primary, autosomal recessive" 0 1 0 0 0 0 UBERON:0010233 "stroma of thyroid gland" 0 0 0 0 0 1 -MONDO:0011587 "cataract 25" 1 6 0 0 0 0 +MONDO:0011587 "cataract 25" 1 5 0 0 0 0 GO:0010883 "regulation of lipid storage" 1 0 0 0 0 1 GO:1903779 "regulation of cardiac conduction" 1 0 0 0 0 1 MONDO:0020280 "obsolete metabolic disease with cataract" 0 2 0 0 0 0 MONDO:0044349 "acquired hemoglobinopathy" 1 2 0 0 0 1 MONDO:0008341 "ptosis-strabismus-ectopic pupils syndrome" 1 5 0 0 0 0 MONDO:0009078 "obsolete Jervell and Lange-Nielsen syndrome" 0 0 0 0 0 0 -MONDO:0010828 "retinitis pigmentosa 11" 1 6 0 0 0 1 +MONDO:0010828 "retinitis pigmentosa 11" 1 5 0 0 0 1 MONDO:0001155 "gastrojejunal ulcer" 0 10 0 0 0 0 NCBITaxon:1257 "Peptostreptococcus" 0 2 0 0 0 0 MONDO:0021107 "narcolepsy" 1 8 0 0 0 0 @@ -36560,17 +36576,16 @@ UBERON:0004362 "pharyngeal arch 1" 0 0 0 0 0 0 MONDO:0020348 "acute motor and sensory axonal neuropathy" 1 5 0 0 0 0 UBERON:0010745 "sacral vertebra cartilage element" 0 0 0 0 0 1 MONDO:0054867 "paraomphalocele" 0 1 0 0 0 0 -MONDO:0013626 "psoriasis 14, pustular" 1 15 0 0 0 1 -MONDO:0019154 "androgen insensitivity syndrome" 1 17 0 0 0 0 +MONDO:0013626 "psoriasis 14, pustular" 1 14 0 0 0 1 +MONDO:0019154 "androgen insensitivity syndrome" 1 15 0 0 0 0 MONDO:0021935 "aspergillus niger infection" 1 2 0 0 0 1 MONDO:0004204 "squamous cell skin papilloma" 1 4 0 0 0 1 MONDO:0006791 "hyperemesis gravidarum" 1 6 0 0 0 0 MONDO:0020111 "obsolete constitutional megaloblastic anemia due to folate metabolism disorder" 0 3 0 0 0 0 -MONDO:0020745 "autosomal dominant cardiac arrhythmia (Kuhn)" 0 1 0 0 0 0 http://identifiers.org/hgnc/7159 "MMP13" 0 0 0 0 0 0 MONDO:0003150 "male reproductive system disorder" 1 8 0 0 0 1 UBERON:0001778 "ciliary epithelium" 0 0 0 0 0 1 -MONDO:0021178 "injury" 1 4 0 0 0 0 +MONDO:0021178 "injury" 1 18 0 0 0 0 UBERON:0009713 "endocardium of left ventricle" 0 0 0 0 0 1 MONDO:0022496 "arthrogryposis IUGR thoracic dystrophy" 1 1 0 0 0 0 GO:0071745 "IgA immunoglobulin complex" 1 0 0 0 0 0 @@ -36581,9 +36596,9 @@ MONDO:0014352 "abdominal obesity-metabolic syndrome 3" 1 3 0 0 0 1 UBERON:0015791 "digit connective tissue" 0 0 0 0 0 1 GO:0055086 "nucleobase-containing small molecule metabolic process" 1 0 0 0 0 0 GO:0002674 "negative regulation of acute inflammatory response" 1 0 0 0 0 1 -MONDO:0020460 "acquired von willebrand syndrome" 1 10 0 0 0 1 +MONDO:0020460 "acquired von willebrand syndrome" 1 9 0 0 0 1 CHEBI:76740 "EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor" 1 0 0 0 0 0 -MONDO:0056798 "disorder of appendix" 1 4 0 0 0 1 +MONDO:0056798 "disorder of appendix" 1 5 0 0 0 1 MONDO:0007413 "Cyprus facial-neuromusculoskeletal syndrome" 1 7 0 0 0 0 NCBITaxon:444 "Legionellaceae" 0 2 0 0 0 0 ECTO:9002063 "exposure to food component" 1 0 0 0 0 1 @@ -36607,8 +36622,8 @@ MONDO:0033203 "nephrotic syndrome 14" 0 4 0 0 0 1 GO:2000310 "regulation of NMDA receptor activity" 1 0 0 0 0 1 MONDO:0030439 "spermatogenic failure 57" 0 1 0 0 0 0 UBERON:0010125 "future superior salivatory nucleus" 0 0 0 0 0 1 -MONDO:0001247 "social phobia" 1 8 0 0 0 0 -MONDO:0004698 "intestine carcinoma in situ" 1 5 0 0 0 1 +MONDO:0001247 "social phobia" 1 6 0 0 0 0 +MONDO:0004698 "intestine carcinoma in situ" 1 4 0 0 0 1 MONDO:0008486 "steatocystoma multiplex-natal teeth syndrome" 1 6 0 0 0 0 MONDO:0044790 "obsolete congenital melanocytic nevus" 0 0 0 0 0 0 MONDO:0006417 "small intestinal diffuse large B-cell lymphoma" 1 3 0 0 0 1 @@ -36616,7 +36631,7 @@ UBERON:0002807 "right occipital lobe" 0 0 0 0 0 1 UBERON:0006230 "extrinsic ocular pre-muscle mass" 0 0 0 0 0 0 MONDO:0022854 "congenital unilateral pulmonary hypoplasia" 0 1 0 0 0 0 MONDO:0005445 "visceral leishmaniasis" 1 9 0 0 0 0 -MONDO:0004568 "paralytic ileus" 1 8 0 0 0 0 +MONDO:0004568 "paralytic ileus" 1 7 0 0 0 0 MONDO:0006780 "heartwater disease" 1 3 0 0 0 1 NCBITaxon:2748762 "Colorado tick fever coltivirus" 0 1 0 0 0 0 MONDO:0007409 "cryptomicrotia-brachydactyly-excess fingertip arch syndrome" 1 7 0 0 0 0 @@ -36642,7 +36657,7 @@ MONDO:0007059 "acrorenal syndrome" 1 10 0 0 0 0 http://identifiers.org/hgnc/1968 "LYST" 0 0 0 0 0 0 MONDO:0017221 "Pelizaeus-Merzbacher disease, connatal form" 1 3 0 0 0 0 GO:0010954 "positive regulation of protein processing" 1 0 0 0 0 1 -MONDO:0011032 "autosomal dominant nonsyndromic hearing loss 11" 1 6 0 0 0 1 +MONDO:0011032 "autosomal dominant nonsyndromic hearing loss 11" 1 5 0 0 0 1 CHEBI:88188 "drug allergen" 1 0 0 0 0 0 MONDO:0100356 "classic presentation" 1 0 0 0 0 0 GO:0072363 "obsolete regulation of glycolytic process by positive regulation of transcription from RNA polymerase II promoter" 1 0 0 0 0 0 @@ -36654,18 +36669,17 @@ FOODON:03400139 "multicomponent meal (us cfr)"@en 1 1 0 0 0 0 UBERON:0001712 "upper eyelid" 0 0 0 0 0 0 NCBITaxon:186804 "Peptostreptococcaceae" 0 1 0 0 0 0 MONDO:0004533 "perineural angioma" 1 3 0 0 0 0 -MONDO:0012023 "autosomal dominant nonsyndromic hearing loss 49" 1 5 0 0 0 0 +MONDO:0012023 "autosomal dominant nonsyndromic hearing loss 49" 1 4 0 0 0 0 UBERON:0004736 "metanephric glomerulus" 0 0 0 0 0 1 MONDO:0019965 "obsolete rare benign ovarian tumor" 1 1 0 0 0 0 MONDO:0010253 "migraine, familial typical, susceptibility to, 2" 0 1 0 0 0 0 -MONDO:0007823 "insulin receptors, familial increase 1N" 0 1 0 0 0 0 PATO:0000586 "increased size" 1 0 0 0 0 1 MONDO:0017672 "focal palmoplantar keratoderma" 0 2 0 0 0 0 MONDO:0001673 "diarrheal disease" 1 6 0 0 0 1 UBERON:0012488 "muscle layer of duodenum" 0 0 0 0 0 1 CL:0000488 "visible light photoreceptor cell" 1 0 0 0 0 1 MONDO:0025690 "microcephaly, epilepsy, and diabetes syndrome 2" 0 1 0 0 0 0 -MONDO:0006637 "acute kidney tubular necrosis" 1 10 0 0 0 0 +MONDO:0006637 "acute kidney tubular necrosis" 1 9 0 0 0 0 MONDO:0016468 "toxin-mediated infectious botulism" 1 2 0 0 0 0 GO:0061547 "glycogen synthase activity, transferring glucose-1-phosphate" 1 0 0 0 0 0 MONDO:0600002 "hemorrhagic fever" 1 1 0 0 0 0 @@ -36673,19 +36687,19 @@ MONDO:0031332 "Glanzmann thrombasthenia 1" 1 8 0 0 0 0 MONDO:0003808 "mediastinal extraskeletal osteosarcoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/2961 "DYNC1H1" 0 0 0 0 0 0 UBERON:0006530 "seminal fluid" 0 0 0 0 0 1 -MONDO:0013553 "immunodeficiency-centromeric instability-facial anomalies syndrome 2" 1 5 0 0 0 1 +MONDO:0013553 "immunodeficiency-centromeric instability-facial anomalies syndrome 2" 1 4 0 0 0 1 CHEBI:35571 "mancude organic heterocyclic parent" 0 0 0 0 0 0 UBERON:0001344 "epithelium of vagina" 0 0 0 0 0 1 UBERON:0010428 "flat bone" 0 0 0 0 0 0 MONDO:0004417 "nested variant infiltrating bladder urothelial carcinoma" 0 3 0 0 0 0 -MONDO:0005609 "herpes zoster" 1 9 0 0 0 1 +MONDO:0005609 "herpes zoster" 1 8 0 0 0 1 MONDO:0043277 "mosaic trisomy 6" 1 3 0 0 0 1 UBERON:0034878 "prechordal mesoderm" 0 0 0 0 0 1 UBERON:0009768 "distal interphalangeal joint" 0 0 0 0 0 1 -MONDO:0016077 "congenital aortopulmonary window" 0 5 0 0 0 0 +MONDO:0016077 "congenital aortopulmonary window" 0 4 0 0 0 0 MONDO:0008824 "fetal akinesia deformation sequence" 1 9 0 0 0 0 MONDO:0021655 "secondary catabolic mucinosis of skin" 0 3 0 0 0 0 -MONDO:0011031 "autosomal dominant nonsyndromic hearing loss 10" 1 5 0 0 0 1 +MONDO:0011031 "autosomal dominant nonsyndromic hearing loss 10" 1 4 0 0 0 1 MONDO:0011245 "ichthyosis, hystrix-like, with hearing loss" 0 4 0 0 0 0 http://identifiers.org/hgnc/14872 "ASPN" 0 0 0 0 0 0 MONDO:0007790 "Charcot-Marie-Tooth disease type 3" 0 8 0 0 0 0 @@ -36696,7 +36710,7 @@ MONDO:0010711 "TARP syndrome" 1 8 0 0 0 0 UBERON:0010204 "tail vasculature" 0 0 0 0 0 1 MONDO:0011817 "coronary heart disease, susceptibility to, 1" 1 2 0 0 0 1 CHR:9606-chr14q32.2 "14q32.2 (Human)" 0 0 0 0 0 0 -MONDO:0005119 "anthrax infection" 1 12 0 0 0 1 +MONDO:0005119 "anthrax infection" 1 10 0 0 0 1 UBERON:0004225 "respiratory system smooth muscle" 0 0 0 0 0 1 MONDO:0020332 "systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease" 1 8 0 0 0 0 GO:0045914 "negative regulation of catecholamine metabolic process" 1 0 0 0 0 1 @@ -36712,18 +36726,18 @@ MONDO:0012505 "pigmented nodular adrenocortical disease, primary, 2" 1 4 0 0 0 1 UBERON:0006555 "excretory tube" 0 0 0 0 0 1 GO:0001578 "microtubule bundle formation" 1 0 0 0 0 0 MONDO:0016502 "Hermansky-Pudlak syndrome without pulmonary fibrosis" 1 6 0 0 0 0 -MONDO:0005260 "autism" 1 8 0 0 0 0 +MONDO:0005260 "autism" 1 7 0 0 0 0 http://identifiers.org/hgnc/1497 "CASK" 0 0 0 0 0 0 MONDO:0019257 "hemochromatosis type 2" 1 9 0 0 0 0 -MONDO:0004925 "chronic dacryocystitis" 1 5 0 0 0 1 +MONDO:0004925 "chronic dacryocystitis" 1 4 0 0 0 1 UBERON:0008822 "posterior mediastinum" 0 0 0 0 0 0 GO:2000835 "negative regulation of androgen secretion" 1 0 0 0 0 1 MONDO:0005685 "obsolete bullous pemphigoid" 0 0 0 0 0 0 MONDO:0600017 "acinar dysplasia caused by mutation in FGF10" 1 0 0 0 0 1 FOODON:00001785 "crab food product"@en 0 0 0 0 0 1 -MONDO:0009197 "transient erythroblastopenia of childhood" 1 10 0 0 0 0 +MONDO:0009197 "transient erythroblastopenia of childhood" 1 9 0 0 0 0 MONDO:0007305 "cervical vertebral dysplasia" 0 4 0 0 0 0 -MONDO:0041806 "drug-resistant tuberculosis" 1 1 0 0 0 0 +MONDO:0041806 "drug-resistant tuberculosis" 1 2 0 0 0 0 GO:0031346 "positive regulation of cell projection organization" 1 0 0 0 0 1 MONDO:0012514 "hypomyelinating leukodystrophy 5" 1 9 0 0 0 1 MONDO:0004076 "tendon sheath lipoma" 1 3 0 0 0 1 @@ -36740,7 +36754,7 @@ MONDO:0012509 "pigmented nodular adrenocortical disease, primary, 1" 1 3 0 0 0 1 MONDO:0021668 "obsolete disorder involving pain" 0 4 0 0 0 0 MONDO:0016149 "qualitative or quantitative defects of merosin" 0 1 0 0 0 1 MONDO:0013868 "porokeratosis 7, multiple types" 0 2 0 0 0 0 -MONDO:0009251 "fructose-1,6-bisphosphatase deficiency" 1 9 0 0 0 0 +MONDO:0009251 "fructose-1,6-bisphosphatase deficiency" 1 8 0 0 0 0 HP:0032245 "Abnormal metabolism" 1 0 0 0 0 0 MONDO:0017066 "cervical spina bifida aperta" 0 4 0 0 0 0 MONDO:0015296 "cardiac anomalies-heterotaxy syndrome" 1 3 0 0 0 0 @@ -36749,10 +36763,10 @@ MONDO:0001027 "gonococcal seminal vesiculitis" 1 3 0 0 0 1 MONDO:0017615 "benign familial infantile epilepsy" 1 13 0 0 0 0 PATO:0002039 "biconcave" 1 0 0 0 0 0 MONDO:0019110 "obsolete rare central nervous system or retinal vascular disease" 0 2 0 0 0 0 -MONDO:0013567 "atrial septal defect 3" 1 6 0 0 0 1 +MONDO:0013567 "atrial septal defect 3" 1 5 0 0 0 1 GO:0044848 "biological phase" 1 0 0 0 0 0 MONDO:0027353 "autosomal recessive dyskeratosis congenita 4" 1 2 0 0 0 0 -MONDO:0011920 "autosomal dominant nonsyndromic hearing loss 48" 1 5 0 0 0 1 +MONDO:0011920 "autosomal dominant nonsyndromic hearing loss 48" 1 4 0 0 0 1 http://identifiers.org/hgnc/26404 "NADK2" 0 0 0 0 0 0 MONDO:0004379 "female breast carcinoma" 1 8 0 0 0 0 UBERON:0017650 "developing mesenchymal structure" 0 0 0 0 0 1 @@ -36763,7 +36777,7 @@ MONDO:0017107 "isolated cerebellar vermis agenesis" 0 2 0 0 0 0 MONDO:0011499 "Okamoto syndrome" 1 7 0 0 0 0 HP:0001155 "Abnormality of the hand" 1 3 0 0 0 0 ENVO:04000004 "concentration of carbon dioxide in air"@en 1 0 0 0 0 1 -MONDO:0005848 "miliary tuberculosis" 1 13 0 0 0 0 +MONDO:0005848 "miliary tuberculosis" 1 12 0 0 0 0 MONDO:0015832 "true unicornuate uterus" 1 2 0 0 0 0 HP:0000290 "Abnormality of the forehead" 1 1 0 0 0 0 GO:0110111 "negative regulation of animal organ morphogenesis" 1 0 0 0 0 1 @@ -36795,7 +36809,7 @@ MONDO:0011161 "sperm-specific antigen 1" 0 1 0 0 0 0 UBERON:0003957 "Bruch's membrane" 0 0 0 0 0 0 CHEBI:137419 "secondary ammonium ion" 1 0 0 0 0 0 UBERON:0016515 "muscular layer of prostatic urethra" 0 0 0 0 0 1 -MONDO:0001335 "hypotrichosis of eyelid" 1 5 0 0 0 1 +MONDO:0001335 "hypotrichosis of eyelid" 1 4 0 0 0 1 MONDO:0011030 "epithelial basolateral chloride conductance regulator, rabbit, homolog of" 0 1 0 0 0 0 http://identifiers.org/hgnc/11935 "CD40LG" 0 0 0 0 0 0 MONDO:0004453 "testicular yolk sac tumor, myxomatous pattern" 1 3 0 0 0 0 @@ -36805,7 +36819,7 @@ HP:0010549 "Weakness due to upper motor neuron dysfunction" 1 1 0 0 0 0 MONDO:0009376 "carbamoyl phosphate synthetase I deficiency disease" 1 10 0 0 0 0 MONDO:0016919 "partial deletion of the long arm of chromosome 21" 0 2 0 0 0 1 UBERON:0001222 "right ureter" 0 0 0 0 0 1 -MONDO:0006728 "obsolete discitis" 1 7 0 0 0 0 +MONDO:0006728 "obsolete discitis" 1 6 0 0 0 0 MONDO:0030436 "anemia, sideroblastic, 5" 0 1 0 0 0 0 MONDO:0016693 "subependymal giant cell astrocytoma" 1 9 0 0 0 0 CHEBI:76710 "EC 4.* (lyase) inhibitor" 1 0 0 0 0 0 @@ -36820,7 +36834,7 @@ MONDO:0007388 "congenitally short costocoracoid ligament" 1 6 0 0 0 0 GO:0003012 "muscle system process" 1 0 0 0 0 0 http://identifiers.org/hgnc/17655 "GREM2" 0 0 0 0 0 0 http://identifiers.org/hgnc/20731 "GNB4" 0 0 0 0 0 0 -MONDO:0011523 "Bardet-Biedl syndrome 6" 0 8 0 0 0 0 +MONDO:0011523 "Bardet-Biedl syndrome 6" 0 7 0 0 0 0 MONDO:0003367 "gastric leiomyosarcoma" 1 5 0 0 0 1 HP:0008609 "Morphological abnormality of the middle ear" 1 1 0 0 0 0 GO:0051460 "negative regulation of corticotropin secretion" 1 0 0 0 0 1 @@ -36828,7 +36842,7 @@ NCBITaxon:2497576 "Ellioviricetes" 0 1 0 0 0 0 ENVO:01000818 "cryosphere"@en 1 0 0 0 0 0 UBERON:0001860 "endolymphatic duct" 0 0 0 0 0 0 MONDO:0018497 "obsolete rare autonomic nervous system disorder" 1 1 0 0 0 0 -MONDO:0019374 "CAMOS syndrome" 1 6 0 0 0 0 +MONDO:0019374 "CAMOS syndrome" 1 7 0 0 0 0 MONDO:0000880 "obsolete lupus nephritis" 0 0 0 0 0 0 MONDO:0100192 "liver failure" 1 1 0 0 0 0 GO:0005775 "vacuolar lumen" 1 0 0 0 0 1 @@ -36891,7 +36905,7 @@ HP:0002373 "Febrile seizure (within the age range of 3 months to 6 years)" 1 3 0 GO:0006903 "vesicle targeting" 1 0 0 0 0 0 GO:0006310 "DNA recombination" 1 0 0 0 0 0 MONDO:0008531 "obsolete T-complex locus TCP10B" 0 1 0 0 0 0 -MONDO:0003802 "cornea cancer" 1 8 0 0 0 1 +MONDO:0003802 "cornea cancer" 1 7 0 0 0 1 MONDO:0005653 "obsolete asbestosis" 0 0 0 0 0 0 MONDO:0014171 "complex cortical dysplasia with other brain malformations 4" 1 3 0 0 0 1 MONDO:0014170 "complex cortical dysplasia with other brain malformations 3" 1 3 0 0 0 1 @@ -36935,15 +36949,15 @@ MONDO:0007911 "lipoprotein, variant of beta" 0 1 0 0 0 0 MONDO:0003810 "bladder diffuse clear cell adenocarcinoma" 1 3 0 0 0 0 http://identifiers.org/hgnc/5961 "IKBKG" 0 0 0 0 0 0 MONDO:0003395 "testicular granulosa cell tumor" 1 4 0 0 0 1 -MONDO:0019665 "monostotic fibrous dysplasia" 1 9 0 0 0 0 +MONDO:0019665 "monostotic fibrous dysplasia" 1 8 0 0 0 0 MONDO:0015041 "myelodysplastic syndrome with excess blasts-2" 1 4 0 0 0 0 MONDO:0013224 "rhabdoid tumor predisposition syndrome 2" 1 5 0 0 0 1 -MONDO:0006590 "palmoplantar keratosis" 1 7 0 0 0 0 +MONDO:0006590 "palmoplantar keratosis" 1 6 0 0 0 0 MONDO:0011221 "Weyers ulnar ray/oligodactyly syndrome" 0 4 0 0 0 0 UBERON:0000458 "endocervix" 0 0 0 0 0 1 http://identifiers.org/hgnc/2942 "DNAH11" 0 0 0 0 0 0 GO:0016868 "intramolecular transferase activity, phosphotransferases" 1 0 0 0 0 0 -MONDO:0000701 "ischemic colitis" 1 5 0 0 0 1 +MONDO:0000701 "ischemic colitis" 1 4 0 0 0 1 MONDO:0044329 "osteogenesis imperfecta, type 18" 1 2 0 0 0 0 UBERON:0005598 "trunk somite" 0 0 0 0 0 1 MONDO:0017581 "familial infantile gigantism" 0 4 0 0 0 0 @@ -36980,8 +36994,8 @@ MONDO:0000717 "obsolete acrofrontofacionasal dysostosis" 0 0 0 0 0 0 MONDO:0001571 "gynecomastia" 1 7 0 0 0 1 http://identifiers.org/hgnc/795 "ATM" 0 0 0 0 0 0 MONDO:0013135 "familial hemophagocytic lymphohistiocytosis 5" 1 5 0 0 0 1 -MONDO:0006052 "pulmonary tuberculosis" 1 19 0 0 0 0 -MONDO:0005146 "post-traumatic stress disorder" 1 10 0 0 0 0 +MONDO:0006052 "pulmonary tuberculosis" 1 17 0 0 0 0 +MONDO:0005146 "post-traumatic stress disorder" 1 8 0 0 0 0 UBERON:0011919 "yolk sac blood island" 0 0 0 0 0 1 NCBITaxon:90338 "Rhinosporidium" 0 1 0 0 0 0 MONDO:0011603 "GNE myopathy" 1 6 0 0 0 0 @@ -36990,13 +37004,13 @@ MONDO:0017483 "humeral agenesis/hypoplasia, bilateral" 0 2 0 0 0 0 GO:0099577 "regulation of translation at presynapse, modulating synaptic transmission" 1 0 0 0 0 1 MONDO:0016443 "papular elastorrhexis" 1 5 0 0 0 0 NCBITaxon:6157 "Platyhelminthes" 0 1 0 0 0 0 -MONDO:0021562 "omphalitis" 1 4 0 0 0 1 +MONDO:0021562 "omphalitis" 1 5 0 0 0 1 MONDO:0015404 "rapidly involuting congenital hemangioma" 1 4 0 0 0 0 MONDO:0019352 "obsolete sporotrichosis" 0 0 0 0 0 0 MONDO:0018545 "obsolete primary immunodeficiency with predisposition to severe viral infection" 0 1 0 0 0 0 MONDO:0004399 "obsolete epithelial malignant thymoma" 0 0 0 0 0 0 MONDO:0003161 "obsolete benign ependymoma" 0 0 0 0 0 0 -MONDO:0013051 "autosomal recessive cutis laxa type 2B" 1 8 0 0 0 1 +MONDO:0013051 "autosomal recessive cutis laxa type 2B" 1 7 0 0 0 1 MONDO:0043103 "hypothyroidism due to iodide transport defect" 1 4 0 0 0 0 MONDO:0008882 "congenital bowing of long bones" 1 10 0 0 0 0 UBERON:0007026 "presumptive gut" 0 0 0 0 0 1 @@ -37042,9 +37056,9 @@ CL:0000317 "sebum secreting cell" 1 0 0 0 0 1 GO:0150075 "negative regulation of protein-glutamine gamma-glutamyltransferase activity" 1 0 0 0 0 1 MONDO:0023071 "enterovirus antenatal infection" 0 1 0 0 0 0 MONDO:0011387 "psoriasis 4, susceptibility to" 0 2 0 0 0 0 -MONDO:0001816 "scleroperikeratitis" 0 5 0 0 0 1 +MONDO:0001816 "scleroperikeratitis" 0 4 0 0 0 1 MONDO:0004045 "pediatric intraocular retinoblastoma" 1 3 0 0 0 1 -MONDO:0002304 "protein S deficiency" 1 9 0 0 0 0 +MONDO:0002304 "protein S deficiency" 1 8 0 0 0 0 MONDO:0032871 "leukodystrophy, hypomyelinating, 19, transient infantile" 0 1 0 0 0 0 MONDO:0007973 "mental and growth retardation with amblyopia" 0 3 0 0 0 0 MONDO:0003410 "Wolffian duct adenocarcinoma" 1 3 0 0 0 1 @@ -37059,24 +37073,24 @@ MONDO:0014208 "Charcot-Marie-Tooth disease type 2R" 1 6 0 0 0 1 HP:0010917 "Abnormal circulating tyrosine concentration" 1 1 0 0 0 0 MONDO:0003661 "breast lymphoma" 1 5 0 0 0 1 MONDO:0002200 "eccrine mixed tumor of skin" 1 5 0 0 0 1 -MONDO:0013312 "retinitis pigmentosa 55" 1 4 0 0 0 0 +MONDO:0013312 "retinitis pigmentosa 55" 1 3 0 0 0 0 http://identifiers.org/hgnc/12335 "TRPC3" 0 0 0 0 0 0 MONDO:0000418 "obsolete Ohtahara syndrome" 0 0 0 0 0 0 UBERON:0010077 "cuboidal epithelium" 0 0 0 0 0 0 GO:0001675 "acrosome assembly" 1 0 0 0 0 0 -MONDO:0020420 "pulmonary branch stenosis" 1 4 0 0 0 0 +MONDO:0020420 "pulmonary branch stenosis" 1 3 0 0 0 0 NCBITaxon:11157 "Mononegavirales" 0 1 0 0 0 0 NCBITaxon:1485 "Clostridium" 0 3 0 0 0 0 UBERON:0004822 "extrahepatic bile duct epithelium" 0 0 0 0 0 1 MONDO:0004798 "obsolete Sheehan syndrome" 0 0 0 0 0 0 -MONDO:0010402 "syndromic X-linked intellectual disability 94" 1 6 0 0 0 0 +MONDO:0010402 "syndromic X-linked intellectual disability 94" 1 5 0 0 0 0 UBERON:0003506 "chest blood vessel" 0 0 0 0 0 1 MONDO:0014310 "hereditary sclerosing poikiloderma with tendon and pulmonary involvement" 1 5 0 0 0 0 MONDO:0015235 "arachnodactyly-intellectual disability-dysmorphism syndrome" 1 5 0 0 0 0 NCBITaxon:5878 "Ciliophora" 0 1 0 0 0 0 MONDO:0010264 "X-linked adrenal hypoplasia congenita" 1 9 0 0 0 0 GO:0007268 "chemical synaptic transmission" 1 0 0 0 0 0 -MONDO:0002428 "protozoa infectious disease" 1 5 0 0 0 0 +MONDO:0002428 "protozoa infectious disease" 1 4 0 0 0 0 MONDO:0020301 "Prader-Willi syndrome due to paternal 15q11q13 deletion" 0 3 0 0 0 0 MONDO:0003386 "bladder clear cell adenocarcinoma" 1 3 0 0 0 1 MONDO:0011183 "Paget disease of bone 2, early-onset" 0 3 0 0 0 0 @@ -37086,7 +37100,7 @@ MONDO:0018691 "obsolete endometrioid carcinoma of ovary" 0 0 0 0 0 0 MONDO:0024517 "schwannomatosis 1" 0 3 0 0 0 0 http://identifiers.org/hgnc/18658 "NUP205" 0 0 0 0 0 0 MONDO:0003390 "glycogen-rich clear cell breast carcinoma" 1 4 0 0 0 1 -MONDO:0000271 "tuberculous salpingitis" 1 6 0 0 0 1 +MONDO:0000271 "tuberculous salpingitis" 1 5 0 0 0 1 UBERON:0009500 "periotic mesenchyme" 0 0 0 0 0 1 MONDO:0013865 "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" 1 5 0 0 0 1 http://identifiers.org/hgnc/6081 "INS" 0 0 0 0 0 0 @@ -37106,10 +37120,10 @@ GO:0016482 "cytosolic transport" 1 0 0 0 0 1 MONDO:0000539 "striated muscle rhabdoid tumor" 1 1 0 0 0 1 UBERON:0009577 "metencephalon sulcus limitans" 0 0 0 0 0 1 MONDO:0018401 "obsolete female infertility due to an anomaly of ovarian function" 0 2 0 0 0 0 -MONDO:0001579 "corneal staphyloma" 0 5 0 0 0 0 -MONDO:0013912 "hypogonadotropic hypogonadism 10 with or without anosmia" 1 4 0 0 0 1 +MONDO:0001579 "corneal staphyloma" 0 4 0 0 0 0 +MONDO:0013912 "hypogonadotropic hypogonadism 10 with or without anosmia" 1 3 0 0 0 1 http://identifiers.org/hgnc/435 "ALOX5" 0 0 0 0 0 0 -MONDO:0005015 "diabetes mellitus" 1 13 0 0 0 0 +MONDO:0005015 "diabetes mellitus" 1 11 0 0 0 0 MONDO:0011715 "Seckel syndrome 2" 1 5 0 0 0 1 http://identifiers.org/hgnc/10521 "SAG" 0 0 0 0 0 0 MONDO:0019238 "inborn disorder of pyrimidine metabolism" 1 3 0 0 0 1 @@ -37119,7 +37133,6 @@ GO:0042866 "pyruvate biosynthetic process" 1 0 0 0 0 0 MONDO:0013142 "neuropathy, hereditary sensory and autonomic, type 2B" 1 4 0 0 0 1 MONDO:0012502 "normophosphatemic familial tumoral calcinosis" 0 7 0 0 0 0 MONDO:0016455 "virus-associated trichodysplasia spinulosa" 1 2 0 0 0 0 -MONDO:0007591 "facial hypertrichosis" 0 3 0 0 0 0 MONDO:0020373 "early-onset anterior polar cataract" 0 5 0 0 0 0 UBERON:0005039 "mucosa of bronchiole" 0 0 0 0 0 1 CHEBI:42485 "formyl group" 0 0 0 0 0 0 @@ -37172,13 +37185,12 @@ NCBITaxon:33090 "Viridiplantae" 0 3 0 0 0 0 MONDO:0015646 "orgasm-induced seizures" 1 3 0 0 0 1 CL:0002242 "nucleate cell" 1 1 0 0 0 1 UBERON:0013697 "exocrine pancreas epithelium" 0 0 0 0 0 1 -MONDO:0020054 "partial autosomal monosomy" 0 4 0 0 0 0 GO:1903561 "extracellular vesicle" 1 0 0 0 0 1 -MONDO:0006531 "cholesteatoma of attic" 1 7 0 0 0 0 +MONDO:0006531 "cholesteatoma of attic" 1 5 0 0 0 0 CL:1001517 "stomach enteroendocrine cell" 1 0 0 0 0 1 MONDO:0042915 "Schmitt-Gillenwater-Kelly syndrome" 0 1 0 0 0 0 -MONDO:0006625 "altitude sickness" 1 4 0 0 0 0 -MONDO:0019975 "pellagra" 1 11 0 0 0 0 +MONDO:0006625 "altitude sickness" 1 3 0 0 0 0 +MONDO:0019975 "pellagra" 1 10 0 0 0 0 MONDO:0020547 "chronic graft versus host disease" 1 10 0 0 0 1 MONDO:0021045 "fibroepithelial neoplasm" 1 4 0 0 0 0 http://identifiers.org/hgnc/9535 "PSMA6" 0 0 0 0 0 0 @@ -37196,9 +37208,9 @@ http://identifiers.org/hgnc/753 "ASNS" 0 0 0 0 0 0 UBERON:0008434 "cervical vertebral arch" 0 0 0 0 0 1 HP:0003107 "Abnormal circulating cholesterol concentration" 1 1 0 0 0 0 CL:0002067 "type A enteroendocrine cell" 1 1 0 0 0 1 -MONDO:0013315 "retinitis pigmentosa 57" 1 5 0 0 0 1 +MONDO:0013315 "retinitis pigmentosa 57" 1 4 0 0 0 1 MONDO:0019230 "inborn disorder of ornithine or proline metabolism" 0 2 0 0 0 0 -MONDO:0013314 "retinitis pigmentosa 56" 1 5 0 0 0 1 +MONDO:0013314 "retinitis pigmentosa 56" 1 4 0 0 0 1 MONDO:0003932 "childhood optic nerve glioma" 1 4 0 0 0 1 MONDO:0004630 "substance-induced psychosis" 0 2 0 0 0 0 MONDO:0016658 "8p23.1 microdeletion syndrome" 1 6 0 0 0 1 @@ -37211,11 +37223,11 @@ UBERON:0001884 "phrenic nerve" 0 0 0 0 0 1 MONDO:0001079 "pancreatic steatorrhea" 0 5 0 0 0 0 UBERON:8410036 "medullary venule of lymph node" 0 0 0 0 0 1 MONDO:0018430 "partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome" 1 3 0 0 0 0 -MONDO:0020105 "obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies" 0 2 0 0 0 0 +MONDO:0020105 "obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies" 0 1 0 0 0 0 MONDO:0010194 "Weill-Marchesani syndrome 1" 1 2 0 0 0 1 MONDO:0700118 "proximal chromosome 18q deletion syndrome" 1 1 0 0 0 0 UBERON:0001183 "inferior mesenteric artery" 0 0 0 0 0 1 -MONDO:0025598 "pneumonia caused by chlamydia" 1 6 0 0 0 1 +MONDO:0025598 "pneumonia caused by chlamydia" 1 5 0 0 0 1 UBERON:0005233 "medial-nasal process ectoderm" 0 0 0 0 0 1 MONDO:0016374 "cranial neuralgia" 1 3 0 0 0 1 MONDO:0009651 "obsolete pseudo-Hurler polydystrophy" 0 0 0 0 0 0 @@ -37234,15 +37246,15 @@ MONDO:0000696 "obsolete juvenile absence epilepsy" 0 0 0 0 0 0 MONDO:0019056 "neuromuscular disease" 1 9 0 0 0 1 MONDO:0024950 "horse disease" 1 2 0 0 0 0 UBERON:0001801 "anterior segment of eyeball" 0 0 0 0 0 0 -MONDO:0002351 "glottis cancer" 1 6 0 0 0 1 +MONDO:0002351 "glottis cancer" 1 5 0 0 0 1 UBERON:0001062 "anatomical entity" 1 0 0 0 0 0 UBERON:0004796 "prostate gland secretion" 0 0 0 0 0 1 MONDO:0012913 "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome" 1 5 0 0 0 0 UBERON:0015004 "tibia endochondral element" 0 0 0 0 0 1 -MONDO:0006965 "secondary hypertrophic osteoarthropathy" 1 7 0 0 0 0 +MONDO:0006965 "secondary hypertrophic osteoarthropathy" 1 6 0 0 0 0 SO:0000056 "hypoploid" 1 0 0 0 0 0 MONDO:0024333 "sciatica" 1 3 0 0 0 0 -MONDO:0010933 "autosomal recessive nonsyndromic hearing loss 4" 1 5 0 0 0 1 +MONDO:0010933 "autosomal recessive nonsyndromic hearing loss 4" 1 4 0 0 0 1 MONDO:0017587 "onychomatricoma" 1 2 0 0 0 1 MONDO:0002502 "obsolete giant cell glioblastoma" 0 0 0 0 0 0 HP:0001298 "Encephalopathy" 1 3 0 0 0 0 @@ -37254,7 +37266,7 @@ GO:0120031 "plasma membrane bounded cell projection assembly" 1 0 0 0 0 0 GO:0044267 "cellular protein metabolic process" 1 0 0 0 0 0 MONDO:0024478 "mesenchymal hamartoma" 0 2 0 0 0 0 MONDO:0017856 "X-linked spasticity-intellectual disability-epilepsy syndrome" 0 4 0 0 0 0 -MONDO:0007275 "carpal tunnel syndrome" 1 13 0 0 0 0 +MONDO:0007275 "carpal tunnel syndrome" 1 12 0 0 0 0 MONDO:0004723 "liver leiomyoma" 1 3 0 0 0 1 GO:0051966 "regulation of synaptic transmission, glutamatergic" 1 0 0 0 0 1 MONDO:0000214 "hypermanganesemia with dystonia" 0 3 0 0 0 0 @@ -37287,12 +37299,12 @@ http://identifiers.org/hgnc/18233 "BANK1" 0 0 0 0 0 0 CHEBI:33672 "heterobicyclic compound" 1 0 0 0 0 0 MONDO:0024863 "small size posterior uveal melanoma" 0 2 0 0 0 0 MONDO:0010565 "red color blindness" 1 7 0 0 0 0 -MONDO:0009255 "galactokinase deficiency" 1 11 0 0 0 0 +MONDO:0009255 "galactokinase deficiency" 1 10 0 0 0 0 MONDO:0011508 "lymphoma, non-Hodgkin, familial" 0 5 0 0 0 0 MONDO:0024531 "myopathy, tubular aggregate, 1" 1 3 0 0 0 1 PATO:0001190 "juvenile" 1 0 0 0 0 0 MONDO:0002444 "melancholia" 1 4 0 0 0 0 -MONDO:0013445 "complement component 9 deficiency" 1 6 0 0 0 1 +MONDO:0013445 "complement component 9 deficiency" 1 5 0 0 0 1 CHEBI:4551 "digoxin" 1 0 0 0 0 0 UBERON:2001073 "axial vasculature" 0 0 0 0 0 0 MONDO:0021321 "malignant tumor of extrahepatic bile duct" 1 5 0 0 0 1 @@ -37333,14 +37345,14 @@ UBERON:0016510 "epithelium of male urethra" 0 0 0 0 0 1 MONDO:0001737 "tetanus neonatorum" 1 6 0 0 0 0 CL:0000593 "androgen secreting cell" 1 0 0 0 0 1 MONDO:0010597 "glutamyl ribose-5-phosphate storage disease" 0 3 0 0 0 0 -MONDO:0018309 "Hirschsprung disease" 1 20 0 0 0 0 +MONDO:0018309 "Hirschsprung disease" 1 19 0 0 0 0 MONDO:0014331 "Moyamoya disease with early-onset achalasia" 1 5 0 0 0 0 MONDO:0019381 "obsolete eastern equine encephalitis" 0 0 0 0 0 0 MONDO:0011765 "multiple epiphyseal dysplasia type 5" 1 9 0 0 0 1 MONDO:0009883 "alpha-2-plasmin inhibitor deficiency" 1 8 0 0 0 0 http://identifiers.org/hgnc/9594 "PTGER2" 0 0 0 0 0 0 MONDO:0005033 "ganglioneuroma" 1 14 0 0 0 0 -MONDO:0008090 "cyclic hematopoiesis" 1 11 0 0 0 0 +MONDO:0008090 "cyclic hematopoiesis" 1 10 0 0 0 0 MONDO:0007227 "Sillence syndrome" 1 7 0 0 0 0 MONDO:0006773 "gonadal tissue neoplasm" 1 3 0 0 0 0 MONDO:0001678 "intestinal tuberculosis" 1 5 0 0 0 1 @@ -37372,7 +37384,7 @@ MONDO:0014307 "Dowling-Degos disease 4" 1 3 0 0 0 1 CHEBI:48355 "non-polar solvent" 0 0 0 0 0 0 GO:0055007 "cardiac muscle cell differentiation" 1 0 0 0 0 0 MONDO:0005877 "obsolete nocardiosis" 0 0 0 0 0 0 -MONDO:0010723 "retinitis pigmentosa 2" 1 6 0 0 0 1 +MONDO:0010723 "retinitis pigmentosa 2" 1 5 0 0 0 1 MONDO:0019630 "congenital ectropion uveae" 1 2 0 0 0 0 MONDO:0014645 "BENTA disease" 1 5 0 0 0 0 GO:0051650 "establishment of vesicle localization" 1 0 0 0 0 0 @@ -37394,7 +37406,7 @@ http://identifiers.org/hgnc/9082 "PLOD2" 0 0 0 0 0 0 http://identifiers.org/hgnc/9083 "PLOD3" 0 0 0 0 0 0 MONDO:0012716 "spondyloepiphyseal dysplasia, Cantu type" 1 7 0 0 0 0 MONDO:0044313 "intellectual disability, autosomal recessive 60" 0 1 0 0 0 0 -MONDO:0005962 "skeletal tuberculosis" 1 8 0 0 0 1 +MONDO:0005962 "skeletal tuberculosis" 1 7 0 0 0 1 http://identifiers.org/hgnc/21050 "CDKAL1" 0 0 0 0 0 0 MONDO:0017954 "pyogenic autoinflammatory syndrome" 0 2 0 0 0 0 MONDO:0002347 "barbiturate dependence" 1 4 0 0 0 0 @@ -37446,7 +37458,7 @@ MONDO:0016099 "overlap myositis" 1 1 0 0 0 0 MONDO:0060781 "Preeyasombat-Varavithya syndrome" 0 2 0 0 0 1 UBERON:0003126 "trachea" 0 0 0 0 0 0 MONDO:0002741 "uterine ligament adenocarcinoma" 1 3 0 0 0 1 -MONDO:0004753 "mechanical strabismus" 0 7 0 0 0 0 +MONDO:0004753 "mechanical strabismus" 0 6 0 0 0 0 GO:0045988 "negative regulation of striated muscle contraction" 1 0 0 0 0 1 CHEBI:35238 "amino acid zwitterion" 1 0 0 0 0 0 MONDO:0003493 "thymus squamous cell carcinoma" 1 4 0 0 0 1 @@ -37454,8 +37466,8 @@ http://identifiers.org/hgnc/7602 "MYO5A" 0 0 0 0 0 0 http://identifiers.org/hgnc/7603 "MYO5B" 0 0 0 0 0 0 MONDO:0019462 "splenic marginal zone lymphoma" 1 10 0 0 0 0 MONDO:0032859 "spermatogenic failure 40" 0 1 0 0 0 0 -MONDO:0003620 "peripheral nervous system disorder" 1 8 0 0 0 1 -MONDO:0002053 "obsolete hypoglycemic coma" 0 6 0 0 0 0 +MONDO:0003620 "peripheral nervous system disorder" 1 9 0 0 0 1 +MONDO:0002053 "obsolete hypoglycemic coma" 0 5 0 0 0 0 MONDO:0010865 "pseudoaminopterin syndrome" 1 7 0 0 0 0 MONDO:0018483 "secondary pulmonary alveolar proteinosis" 1 4 0 0 0 0 CHEBI:13850 "apoprotein" 1 0 0 0 0 0 @@ -37477,7 +37489,7 @@ GO:0045822 "negative regulation of heart contraction" 1 0 0 0 0 1 PO:0009007 "portion of plant tissue" 1 1 0 0 0 0 MONDO:0000865 "obsolete congenital fiber-type disproportion" 0 0 0 0 0 0 MONDO:0014984 "lung disease, immunodeficiency, and chromosome breakage syndrome;" 0 2 0 0 0 0 -MONDO:0013744 "cataract 37" 1 5 0 0 0 0 +MONDO:0013744 "cataract 37" 1 4 0 0 0 0 MONDO:0024985 "sheep disease" 1 2 0 0 0 0 UBERON:0011824 "fibrous connective tissue" 0 0 0 0 0 0 MONDO:0024711 "malignant mixed epithelial stromal tumor of the kidney" 1 2 0 0 0 1 @@ -37491,9 +37503,9 @@ MONDO:0016589 "progressive cerebello-cerebral atrophy" 0 2 0 0 0 0 MONDO:0008254 "platelet disorder, undefined" 0 3 0 0 0 0 GO:0045840 "positive regulation of mitotic nuclear division" 1 0 0 0 0 1 MONDO:0044242 "obsolete mydriasis, congenital" 0 1 0 0 0 0 -MONDO:0001308 "corneal deposit" 0 6 0 0 0 0 +MONDO:0001308 "corneal deposit" 0 5 0 0 0 0 MONDO:0017554 "radio-ulnar synostosis, unilateral" 0 3 0 0 0 0 -MONDO:0006565 "juvenile dermatitis herpetiformis" 1 6 0 0 0 0 +MONDO:0006565 "juvenile dermatitis herpetiformis" 1 5 0 0 0 0 MONDO:0012687 "familial cavitary optic disc anomaly" 0 4 0 0 0 0 MONDO:0005579 "epilepsy, idiopathic generalized" 1 20 0 0 0 1 CHEBI:32761 "L-tyrosinate(2-)" 1 0 0 0 0 0 @@ -37528,7 +37540,6 @@ GO:0051050 "positive regulation of transport" 1 0 0 0 0 1 MONDO:0043183 "podder-tolmie syndrome" 0 3 0 0 0 0 MONDO:0006365 "Peutz-Jeghers polyp" 1 2 0 0 0 0 MONDO:0008101 "familial supernumerary nipples" 1 3 0 0 0 0 -MONDO:0008110 "ocular dominance" 0 1 0 0 0 0 MONDO:0013153 "inflammatory bowel disease 28" 1 5 0 0 0 1 FOODON:00001293 "shellfish food product"@en 0 0 0 0 0 1 GO:0046888 "negative regulation of hormone secretion" 1 0 0 0 0 1 @@ -37538,21 +37549,21 @@ MONDO:0018164 "arterial thoracic outlet syndrome" 1 4 0 0 0 0 UBERON:0000085 "morula" 0 0 0 0 0 0 UBERON:0001763 "odontogenic papilla" 0 0 0 0 0 1 UBERON:0005145 "metanephric comma-shaped body" 0 0 0 0 0 1 -MONDO:0011279 "autosomal recessive nonsyndromic hearing loss 17" 1 5 0 0 0 0 +MONDO:0011279 "autosomal recessive nonsyndromic hearing loss 17" 1 4 0 0 0 0 MONDO:0003741 "juvenile type testicular granulosa cell tumor" 1 4 0 0 0 1 MONDO:0005616 "pulmonary mucoepidermoid carcinoma" 1 5 0 0 0 1 MONDO:0006582 "mongolian spot" 1 7 0 0 0 0 NCBITaxon:317865 "Rickettsia conorii subsp. indica" 0 2 0 0 0 0 HP:0000651 "Diplopia" 1 3 0 0 0 0 UBERON:0009662 "hindbrain nucleus" 0 0 0 0 0 1 -MONDO:0005381 "bone disorder" 1 9 0 0 0 1 +MONDO:0005381 "bone disorder" 1 10 0 0 0 1 UBERON:0001268 "peritoneal fluid" 0 0 0 0 0 1 MONDO:0011448 "PPARG-related familial partial lipodystrophy" 0 5 0 0 0 0 UBERON:0004402 "bone tissue of proximal epiphysis" 0 0 0 0 0 1 MONDO:0005840 "obsolete mast-cell leukemia" 0 0 0 0 0 0 MONDO:0007826 "incisors, shovel-shaped" 0 1 0 0 0 0 CL:1000467 "chromaffin cell of left ovary" 1 1 0 0 0 1 -MONDO:0004549 "cork-handlers' disease" 1 5 0 0 0 1 +MONDO:0004549 "cork-handlers' disease" 1 4 0 0 0 1 MONDO:0023603 "hereditary disorder of connective tissue" 1 3 0 0 0 1 CL:2000084 "conjunctiva goblet cell" 1 0 0 0 0 1 GO:0045900 "negative regulation of translational elongation" 1 0 0 0 0 1 @@ -37580,7 +37591,7 @@ GO:0050921 "positive regulation of chemotaxis" 1 0 0 0 0 1 MONDO:0032765 "bleeding disorder, platelet-type, 22" 0 1 0 0 0 0 MONDO:0016401 "obsolete energy metabolism disorder with epilepsy" 0 2 0 0 0 0 HP:0031481 "Abnormal mitral valve physiology" 1 0 0 0 0 0 -MONDO:0004605 "chronic ulcer of skin" 0 8 0 0 0 0 +MONDO:0004605 "chronic ulcer of skin" 0 7 0 0 0 0 MONDO:0024392 "anaerobic balanitis" 0 2 0 0 0 1 MONDO:0012285 "left ventricular noncompaction 2" 0 3 0 0 0 0 MONDO:0000542 "obsolete duodenum adenoma" 0 0 0 0 0 0 @@ -37589,7 +37600,7 @@ MONDO:0014998 "glaucoma 3, primary congenital, E" 0 2 0 0 0 0 MONDO:0011310 "long chain fatty acids, defect in transport of" 0 1 0 0 0 0 MONDO:0015942 "frontometaphyseal dysplasia" 1 10 0 0 0 0 HP:0003225 "Reduced coagulation factor V activity" 1 4 0 0 0 0 -MONDO:0009299 "46 XX gonadal dysgenesis" 1 15 0 0 0 0 +MONDO:0009299 "46 XX gonadal dysgenesis" 1 14 0 0 0 0 MONDO:0030134 "oculopharyngodistal myopathy 2" 0 1 0 0 0 0 UBERON:0004176 "external genitalia" 0 0 0 0 0 0 http://identifiers.org/hgnc/7165 "MMP19" 0 0 0 0 0 0 @@ -37610,7 +37621,7 @@ HP:0009815 "Aplasia/hypoplasia of the extremities" 1 1 0 0 0 0 MONDO:0015467 "craniosynostosis, Philadelphia type" 1 5 0 0 0 0 MF:0000076 "intentional modality"@en 1 0 0 0 0 0 HP:0004299 "Hernia of the abdominal wall" 1 3 0 0 0 0 -MONDO:0008340 "congenital ptosis" 1 12 0 0 0 0 +MONDO:0008340 "congenital ptosis" 1 11 0 0 0 0 GO:2000155 "positive regulation of cilium-dependent cell motility" 1 0 0 0 0 1 MONDO:0001126 "gastric ulcer" 1 8 0 0 0 1 CL:2000086 "neocortex basket cell" 1 0 0 0 0 1 @@ -37645,7 +37656,7 @@ MONDO:0007410 "isolated cryptophthalmia" 1 7 0 0 0 1 UBERON:0007684 "uriniferous tubule" 0 0 0 0 0 0 http://identifiers.org/hgnc/7160 "MMP14" 0 0 0 0 0 0 UBERON:0003426 "dermis adipose tissue" 0 0 0 0 0 1 -MONDO:0012880 "hypogonadotropic hypogonadism 5 with or without anosmia" 1 6 0 0 0 1 +MONDO:0012880 "hypogonadotropic hypogonadism 5 with or without anosmia" 1 5 0 0 0 1 MONDO:0020141 "obsolete infectious disease with dementia" 0 2 0 0 0 0 MONDO:0019730 "light chain deposition disease" 1 6 0 0 0 0 MONDO:0000157 "obsolete episodic pain syndrome, familial" 0 0 0 0 0 0 @@ -37680,7 +37691,7 @@ http://identifiers.org/hgnc/29478 "ROGDI" 0 0 0 0 0 0 MONDO:0005747 "enterovirus infectious disease" 1 5 0 0 0 1 UBERON:0014686 "angular vein" 0 0 0 0 0 0 MONDO:0044037 "livedo reticularis" 1 3 0 0 0 0 -MONDO:0000733 "cornea plana" 0 8 0 0 0 0 +MONDO:0000733 "cornea plana" 0 7 0 0 0 0 FOODON:03315173 "fish product (unspecified species)"@en 1 1 0 0 0 0 UBERON:0001869 "cerebral hemisphere" 0 0 0 0 0 0 MONDO:0021057 "classic or attenuated familial adenomatous polyposis" 1 0 0 0 0 0 @@ -37705,7 +37716,7 @@ MONDO:0002885 "erythrasma" 1 8 0 0 0 0 HP:0004364 "Abnormal circulating nitrogen compound concentration" 1 1 0 0 0 0 MONDO:0002871 "testicular trophoblastic tumor" 1 3 0 0 0 1 MONDO:0009222 "Gollop-Wolfgang complex" 1 7 0 0 0 0 -MONDO:0015042 "primary plasmacytoma of the bone" 0 3 0 0 0 0 +MONDO:0015042 "primary plasmacytoma of the bone" 0 2 0 0 0 0 MONDO:0005366 "chronic hepatitis B virus infection" 1 3 0 0 0 1 CL:0002183 "stem cell of gastric gland" 1 1 0 0 0 1 http://identifiers.org/hgnc/25507 "VAC14" 0 0 0 0 0 0 @@ -37745,14 +37756,14 @@ FOODON:03000001 "food peeling process"@en 1 0 0 0 0 0 MONDO:0007755 "hyperimmunoglobulin G1(A1) syndrome" 0 3 0 0 0 0 UBERON:0016632 "isthmus of fallopian tube" 0 0 0 0 0 0 MONDO:0004302 "chief cell adenoma" 1 4 0 0 0 1 -MONDO:0007339 "blepharocheilodontic syndrome" 1 8 0 0 0 0 +MONDO:0007339 "blepharocheilodontic syndrome" 1 9 0 0 0 0 ECTO:0000207 "exposure to carbon monoxide" 1 0 0 0 0 1 MONDO:0003864 "chronic lymphocytic leukemia/small lymphocytic lymphoma" 1 5 0 0 0 0 MONDO:0006638 "acute retinal necrosis syndrome" 1 5 0 0 0 0 NCBITaxon:72274 "Pseudomonadales" 0 1 0 0 0 0 UBERON:0001351 "lacrimal sac" 0 0 0 0 0 0 MONDO:0009396 "hyperparathyroidism, neonatal self-limited primary, with hypercalciuria" 0 3 0 0 0 0 -MONDO:0008190 "obsolete human papillomavirus type 18 integration site 1" 0 0 0 0 0 0 +MONDO:0008190 "obsolete human papillomavirus type 18 integration site 1" 0 1 0 0 0 0 GO:0051093 "negative regulation of developmental process" 1 0 0 0 0 1 CHEBI:67079 "anti-inflammatory agent" 1 0 0 0 0 0 MONDO:0000678 "simultanagnosia" 1 2 0 0 0 0 @@ -37770,11 +37781,11 @@ NCBITaxon:2842407 "Alpharhabdovirinae" 0 1 0 0 0 0 MONDO:0012524 "corticosterone methyloxidase type 2 deficiency" 0 4 0 0 0 0 MONDO:0019124 "microscopic polyangiitis" 1 9 0 0 0 0 MONDO:0024659 "colorectal Kaposi sarcoma" 1 2 0 0 0 1 -MONDO:0015231 "Bartter syndrome" 1 20 0 0 0 0 +MONDO:0015231 "Bartter syndrome" 1 19 0 0 0 0 GO:0100025 "obsolete negative regulation of cellular amino acid biosynthetic process by transcription from RNA polymerase II promoter" 1 0 0 0 0 0 -MONDO:0008564 "DiGeorge syndrome" 1 10 0 0 0 0 +MONDO:0008564 "DiGeorge syndrome" 1 9 0 0 0 0 CL:0002115 "B220-positive CD38-positive unswitched memory B cell" 1 0 0 0 0 0 -MONDO:0005791 "herpangina" 1 7 0 0 0 0 +MONDO:0005791 "herpangina" 1 6 0 0 0 0 MONDO:0001328 "thyroid hormone resistance syndrome" 1 8 0 0 0 0 HP:0001939 "Abnormality of metabolism/homeostasis" 0 1 0 0 0 1 MONDO:0025114 "protozoan infections, animal" 1 2 0 0 0 0 @@ -37788,9 +37799,9 @@ CHEBI:50334 "pyridinium ion" 0 0 0 0 0 0 MONDO:0045003 "scrotal disorder" 1 2 0 0 0 1 GO:0002053 "positive regulation of mesenchymal cell proliferation" 1 0 0 0 0 1 UBERON:0011282 "nail of pedal digit 5" 0 0 0 0 0 1 -MONDO:0001182 "idiopathic corneal edema" 0 5 0 0 0 1 +MONDO:0001182 "idiopathic corneal edema" 0 4 0 0 0 1 MONDO:0032766 "hypoalphalipoproteinemia, primary, 2" 0 2 0 0 0 0 -MONDO:0001197 "qualitative platelet defect" 0 5 0 0 0 0 +MONDO:0001197 "qualitative platelet defect" 0 4 0 0 0 0 MONDO:0003024 "breast angiosarcoma" 1 6 0 0 0 1 MONDO:0007154 "arteriovenous malformations of the brain" 1 9 0 0 0 0 http://identifiers.org/hgnc/19012 "CORIN" 0 0 0 0 0 0 @@ -37830,7 +37841,7 @@ MONDO:0011185 "Thiel-Behnke corneal dystrophy" 1 9 0 0 0 0 UBERON:0011602 "gingiva of lower jaw" 0 0 0 0 0 1 UBERON:0012480 "cloacal mucosa" 0 0 0 0 0 1 HP:0001450 "Y-linked inheritance" 1 2 0 0 0 0 -MONDO:0008191 "obsolete human papillomavirus type 18 integration site 2" 0 0 0 0 0 0 +MONDO:0008191 "obsolete human papillomavirus type 18 integration site 2" 0 1 0 0 0 0 GO:0070564 "positive regulation of vitamin D receptor signaling pathway" 1 0 0 0 0 1 http://identifiers.org/hgnc/29298 "CEP152" 0 0 0 0 0 0 ENVO:01001510 "material congelation process"@en 1 0 0 0 0 0 @@ -37843,7 +37854,7 @@ MONDO:0011861 "breath-holding Spells" 0 1 0 0 0 0 ENVO:01001216 "ultraviolet stellar radiation"@en 1 0 0 0 0 1 MONDO:0002463 "lacrimal gland carcinoma" 1 3 0 0 0 1 NCBITaxon:51026 "Oxyuridae" 0 1 0 0 0 0 -MONDO:0006662 "aseptic meningitis" 1 9 0 0 0 0 +MONDO:0006662 "aseptic meningitis" 1 8 0 0 0 0 GO:0060406 "positive regulation of penile erection" 1 0 0 0 0 1 MONDO:0011655 "alveolar soft part sarcoma" 1 17 0 0 0 0 NCBITaxon:9845 "Ruminantia" 0 1 0 0 0 0 @@ -37865,7 +37876,7 @@ CL:0002535 "epithelial cell of cervix" 1 0 0 0 0 1 ENVO:01000724 "condensation process"@en 1 0 0 0 0 0 MONDO:0010893 "malignant hyperthermia, susceptibility to, 4" 0 4 0 0 0 0 HP:0004360 "Abnormality of acid-base homeostasis" 1 2 0 0 0 0 -MONDO:0000471 "tricuspid valve disorder" 1 8 0 0 0 1 +MONDO:0000471 "tricuspid valve disorder" 1 6 0 0 0 1 MONDO:0007228 "brachymesomelia-renal syndrome" 0 4 0 0 0 0 CHEBI:6495 "lipoprotein" 1 0 0 0 0 0 MONDO:0007435 "dentatorubral-pallidoluysian atrophy" 1 9 0 0 0 0 @@ -37894,13 +37905,13 @@ MONDO:0041447 "metastatic malignant neoplasm in the colon" 1 2 0 0 0 1 GO:0022839 "ion gated channel activity" 1 0 0 0 0 0 MONDO:0024913 "cattle disease" 1 2 0 0 0 0 MONDO:0002334 "hematopoietic and lymphoid system neoplasm" 1 7 0 0 0 1 -MONDO:0004939 "hallucinogen dependence" 1 6 0 0 0 0 +MONDO:0004939 "hallucinogen dependence" 1 5 0 0 0 0 UBERON:0006668 "carotid canal" 0 0 0 0 0 1 MONDO:0045022 "disorder of organic acid metabolism" 1 2 0 0 0 1 MONDO:0013380 "LEOPARD syndrome 3" 1 4 0 0 0 1 GO:0022836 "gated channel activity" 1 0 0 0 0 0 -MONDO:0002181 "exostosis" 1 8 0 0 0 0 -MONDO:0004769 "orbital plasma cell granuloma" 1 7 0 0 0 0 +MONDO:0002181 "exostosis" 1 7 0 0 0 0 +MONDO:0004769 "orbital plasma cell granuloma" 1 6 0 0 0 0 HP:0100257 "Ectrodactyly" 1 4 0 0 0 0 NCBITaxon:34613 "Ixodes ricinus" 0 1 0 0 0 0 MONDO:0010118 "inherited threoninemia" 0 1 0 0 0 0 @@ -37918,7 +37929,7 @@ MONDO:0007741 "congenital hydronephrosis" 1 7 0 0 0 0 ECTO:3000000 "exposure to organism" 1 0 0 0 0 1 MONDO:0008440 "spastic paraplegia-nephritis-deafness syndrome" 1 5 0 0 0 0 http://identifiers.org/hgnc/14450 "LPIN2" 0 0 0 0 0 0 -MONDO:0013827 "hyperekplexia 3" 1 5 0 0 0 1 +MONDO:0013827 "hyperekplexia 3" 1 4 0 0 0 1 http://identifiers.org/hgnc/6932 "MC4R" 0 0 0 0 0 0 GO:1905652 "negative regulation of artery morphogenesis" 1 0 0 0 0 1 GO:0009890 "negative regulation of biosynthetic process" 1 0 0 0 0 1 @@ -37934,7 +37945,7 @@ CL:0000842 "mononuclear cell" 1 3 0 0 0 1 CL:0002022 "Ly-76 high positive erythrocyte" 1 0 0 0 0 0 MONDO:0000735 "obsolete oculodentodigital dysplasia" 0 0 0 0 0 0 MONDO:0044629 "congenital amyoplasia" 0 1 0 0 0 0 -MONDO:0001438 "postinflammatory pulmonary fibrosis" 0 5 0 0 0 1 +MONDO:0001438 "postinflammatory pulmonary fibrosis" 0 4 0 0 0 1 MONDO:0011147 "chromosome 18q deletion syndrome" 1 12 0 0 0 1 CHEBI:47857 "ureas" 0 0 0 0 0 0 MONDO:0010205 "Wolman disease with hypolipoproteinemia and acanthocytosis" 0 3 0 0 0 0 @@ -37976,7 +37987,7 @@ UBERON:0005475 "sigmoid sinus" 0 0 0 0 0 0 MONDO:0018605 "disorders of pentose/polyol metabolism" 0 2 0 0 0 0 UBERON:0001584 "left subclavian artery" 0 0 0 0 0 1 MONDO:0002439 "obsolete stress polycythemia" 0 0 0 0 0 0 -MONDO:0019637 "renal hypoplasia" 1 8 0 0 0 0 +MONDO:0019637 "renal hypoplasia" 1 7 0 0 0 0 MONDO:0002783 "Shwartzman phenomenon" 1 4 0 0 0 0 MONDO:0030463 "spermatogenic failure 58" 0 1 0 0 0 0 MONDO:0016180 "obsolete hematological disease associated with an acquired peripheral neuropathy" 0 2 0 0 0 0 @@ -37992,11 +38003,11 @@ CL:0011019 "mesothelial cell of epicardium" 1 0 0 0 0 1 MONDO:0004222 "ovarian clear cell cystadenocarcinoma" 1 3 0 0 0 1 CL:0002570 "mesenchymal stem cell of adipose" 1 0 0 0 0 1 MONDO:0003481 "dysgerminoma of ovary" 1 6 0 0 0 1 -MONDO:0009887 "desquamative interstitial pneumonia" 1 12 0 0 0 0 +MONDO:0009887 "desquamative interstitial pneumonia" 1 10 0 0 0 0 HP:0008905 "Rhizomelia" 1 1 0 0 0 0 HP:0031097 "Abnormal thyroid-stimulating hormone level" 1 0 0 0 0 0 MONDO:0021114 "Bartholin gland neoplasm" 1 1 0 0 0 1 -MONDO:0011286 "autosomal recessive nonsyndromic hearing loss 13" 1 5 0 0 0 0 +MONDO:0011286 "autosomal recessive nonsyndromic hearing loss 13" 1 4 0 0 0 0 CL:0000548 "animal cell" 0 0 0 0 0 1 NCBITaxon:1570301 "Saccotheciaceae" 0 1 0 0 0 0 MONDO:0003797 "obsolete inflammatory MFH" 0 0 0 0 0 0 @@ -38011,7 +38022,7 @@ MONDO:0010894 "maturity-onset diabetes of the young type 3" 1 8 0 0 0 1 http://identifiers.org/hgnc/757 "ASPH" 0 0 0 0 0 0 HP:0030681 "Abnormal morphology of myocardial trabeculae" 1 1 0 0 0 0 MONDO:0010160 "tyrosinemia type II" 1 8 0 0 0 0 -MONDO:0002182 "communication disorder" 1 6 0 0 0 1 +MONDO:0002182 "communication disorder" 1 5 0 0 0 1 MONDO:0010061 "autosomal recessive cerebellar ataxia-blindness-deafness syndrome" 0 7 0 0 0 0 MONDO:0005841 "maxillary neoplasm" 1 5 0 0 0 1 http://identifiers.org/hgnc/868 "ATP6AP1" 0 0 0 0 0 0 @@ -38033,7 +38044,7 @@ http://identifiers.org/hgnc/6931 "MC3R" 0 0 0 0 0 0 MONDO:0015440 "ring chromosome 6" 1 6 0 0 0 1 GO:1903037 "regulation of leukocyte cell-cell adhesion" 1 0 0 0 0 1 CHEBI:25513 "neutral glycosphingolipid" 1 0 0 0 0 0 -MONDO:0018923 "22q11.2 deletion syndrome" 1 7 0 0 0 1 +MONDO:0018923 "22q11.2 deletion syndrome" 1 6 0 0 0 1 UBERON:0011278 "nail of pedal digit 1" 0 0 0 0 0 1 UBERON:0003216 "hard palate" 0 0 0 0 0 0 MONDO:0010462 "syndromic X-linked intellectual disability Chudley-Schwartz type" 1 3 0 0 0 0 @@ -38047,7 +38058,7 @@ http://identifiers.org/hgnc/21641 "TSPAN12" 0 0 0 0 0 0 MONDO:0001662 "obsolete right bundle branch block" 0 5 0 0 0 0 MONDO:0024340 "retinal neuroblastoma" 1 1 0 0 0 1 MONDO:0021908 "aplasia cutis congenita dominant" 1 1 0 0 0 0 -MONDO:0004678 "dermatophytosis" 1 9 0 0 0 0 +MONDO:0004678 "dermatophytosis" 1 8 0 0 0 0 MONDO:0020328 "obsolete classic Hodgkin lymphoma, mixed cellularity type" 0 0 0 0 0 0 MONDO:0043735 "osteoradionecrosis" 1 3 0 0 0 1 MONDO:0019371 "narcolepsy without cataplexy" 1 8 0 0 0 0 @@ -38055,7 +38066,7 @@ MONDO:0012194 "aneurysm, intracranial berry, 3" 0 4 0 0 0 0 http://identifiers.org/hgnc/8021 "NT5E" 0 0 0 0 0 0 MONDO:0002631 "conventional osteosarcoma" 1 6 0 0 0 0 CL:0000712 "stratum granulosum cell" 0 0 0 0 0 1 -MONDO:0017445 "acheiria" 0 3 0 0 0 0 +MONDO:0017445 "acheiria" 0 2 0 0 0 0 UBERON:0004376 "fin bone" 0 0 0 0 0 1 CL:0007003 "preodontoblast" 1 0 0 0 0 0 UBERON:0004727 "cochlear nerve" 0 0 0 0 0 1 @@ -38065,7 +38076,7 @@ MONDO:0029141 "Usher syndrome, type 4" 0 1 0 0 0 0 MONDO:0018085 "umbilical cord ulceration-intestinal atresia syndrome" 1 4 0 0 0 0 UBERON:0001899 "epithalamus" 0 0 0 0 0 0 http://identifiers.org/hgnc/11916 "TNFRSF1A" 0 0 0 0 0 0 -MONDO:0004860 "vitreous disorder" 1 4 0 0 0 1 +MONDO:0004860 "vitreous disorder" 1 2 0 0 0 1 MONDO:0001052 "chronic fungal otitis externa" 1 4 0 0 0 1 MONDO:0010168 "Usher syndrome type 1" 1 17 0 0 0 0 UBERON:0034874 "air in respiratory system" 0 0 0 0 0 1 @@ -38127,7 +38138,7 @@ MONDO:0014140 "muscular dystrophy-dystroglycanopathy (congenital with brain and FOODON:00003374 "harvested food material"@en 1 0 0 0 0 0 MONDO:0006095 "atypical carcinoid tumor" 1 5 0 0 0 0 NCBITaxon:4751 "Fungi" 0 3 0 0 0 0 -MONDO:0001685 "chronic follicular conjunctivitis" 0 5 0 0 0 0 +MONDO:0001685 "chronic follicular conjunctivitis" 0 4 0 0 0 0 MONDO:0020298 "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15" 0 3 0 0 0 0 GO:0046889 "positive regulation of lipid biosynthetic process" 1 0 0 0 0 1 MONDO:0009654 "obsolete mucopolysaccharidoses, unclassified types" 0 3 0 0 0 0 @@ -38194,10 +38205,10 @@ MONDO:0008270 "polydactyly of a triphalangeal thumb" 1 7 0 0 0 0 MONDO:0003603 "non-functioning pituitary gland neoplasm" 1 2 0 0 0 1 MONDO:0015202 "obsolete babesiosis" 0 0 0 0 0 0 MONDO:0001507 "viral labyrinthitis" 1 4 0 0 0 1 -MONDO:0011591 "cataract 26 multiple types" 1 7 0 0 0 0 +MONDO:0011591 "cataract 26 multiple types" 1 6 0 0 0 0 CL:1000436 "epithelial cell of lacrimal sac" 1 1 0 0 0 1 http://identifiers.org/hgnc/11497 "SYNGAP1" 0 0 0 0 0 0 -MONDO:0004896 "esotropia" 1 10 0 0 0 0 +MONDO:0004896 "esotropia" 1 8 0 0 0 0 MONDO:0014081 "severe combined immunodeficiency due to CARD11 deficiency" 1 4 0 0 0 0 MONDO:0044211 "idiopathic urticaria" 0 4 0 0 0 1 MONDO:0006027 "breast synovial sarcoma" 1 1 0 0 0 1 @@ -38228,13 +38239,13 @@ MONDO:0024934 "fish disease" 1 2 0 0 0 0 MONDO:0014861 "autoimmune disease, multisystem, infantile-onset, 2" 1 2 0 0 0 1 MONDO:0015611 "neutral lipid storage disease" 1 5 0 0 0 0 NCBITaxon:480118 "Eremoneura" 0 1 0 0 0 0 -MONDO:0006584 "neonatal jaundice" 1 9 0 0 0 0 +MONDO:0006584 "neonatal jaundice" 1 8 0 0 0 0 UBERON:0005711 "foregut duodenum mesentery" 0 0 0 0 0 1 MONDO:0018052 "hypoplastic tibiae-postaxial polydactyly syndrome" 1 6 0 0 0 0 MONDO:0100257 "peroxisomal single enzyme/protein defect" 1 0 0 0 0 0 UBERON:0006877 "vasculature of liver" 0 0 0 0 0 1 UBERON:0011189 "lamina propria of large intestine" 0 0 0 0 0 1 -MONDO:0016695 "oligodendroglioma" 1 14 0 0 0 1 +MONDO:0016695 "oligodendroglioma" 1 13 0 0 0 1 http://identifiers.org/hgnc/11030 "SLC4A4" 0 0 0 0 0 0 MONDO:0002600 "obsolete mixed germ cell cancer" 0 0 0 0 0 0 MONDO:0012733 "autosomal recessive bestrophinopathy" 1 8 0 0 0 0 @@ -38247,7 +38258,7 @@ http://identifiers.org/hgnc/17755 "TNFRSF13C" 0 0 0 0 0 0 MONDO:0010644 "proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis" 0 4 0 0 0 0 MONDO:0004246 "obsolete lymphatic system disease" 0 0 0 0 0 0 CL:0002551 "fibroblast of dermis" 0 0 0 0 0 1 -MONDO:0010761 "retinitis pigmentosa Y-linked" 1 6 0 0 0 1 +MONDO:0010761 "retinitis pigmentosa Y-linked" 1 5 0 0 0 1 MONDO:0019054 "congenital limb malformation" 0 1 0 0 0 0 MONDO:0033645 "mitochondrial complex 4 deficiency, nuclear type 11" 0 1 0 0 0 0 MONDO:0014535 "hyperproinsulinemia" 0 5 0 0 0 0 @@ -38276,7 +38287,6 @@ http://identifiers.org/hgnc/7788 "NFIX" 0 0 0 0 0 0 MONDO:0006655 "aortic valve prolapse" 1 5 0 0 0 0 MONDO:0014457 "hyperphosphatasia with intellectual disability syndrome 5" 1 3 0 0 0 1 MONDO:0002133 "chronic rheumatic pericarditis" 1 5 0 0 0 1 -MONDO:0008677 "widow's peak" 0 2 0 0 0 0 MONDO:0008710 "RAB23-related Carpenter syndrome" 1 4 0 0 0 1 http://identifiers.org/hgnc/31648 "MIR96" 0 0 0 0 0 0 CHEBI:79314 "flame retardant" 1 0 0 0 0 0 @@ -38285,7 +38295,7 @@ GO:0099106 "ion channel regulator activity" 1 0 0 0 0 1 http://identifiers.org/hgnc/11048 "SLC6A2" 0 0 0 0 0 0 MONDO:0016227 "hereditary episodic ataxia" 1 8 0 0 0 0 MONDO:0018264 "oculocutaneous albinism type 6" 1 6 0 0 0 0 -MONDO:0002846 "granulomatous gastritis" 1 4 0 0 0 0 +MONDO:0002846 "granulomatous gastritis" 1 3 0 0 0 0 UBERON:0000019 "camera-type eye" 0 0 0 0 0 0 MONDO:0019383 "acute disseminated encephalomyelitis" 1 10 0 0 0 0 MONDO:0006775 "obsolete haemophilus influenzae meningitis" 0 0 0 0 0 0 @@ -38298,19 +38308,18 @@ MONDO:0007114 "angel-shaped phalango-epiphyseal dysplasia" 1 7 0 0 0 0 MONDO:0012270 "Tukel syndrome" 0 4 0 0 0 0 MONDO:0014838 "Coffin-Siris syndrome 5" 1 2 0 0 0 1 MONDO:0004955 "metabolic syndrome" 1 11 0 0 0 0 -MONDO:0015153 "autosomal monosomy" 0 11 0 0 0 0 MONDO:0013719 "cranioectodermal dysplasia 4" 0 3 0 0 0 0 PO:0025233 "portion of embryo plant tissue" 1 1 0 0 0 1 MONDO:0015298 "pellucid marginal degeneration" 0 4 0 0 0 0 GO:0002764 "immune response-regulating signaling pathway" 1 0 0 0 0 0 UBERON:0010330 "eyelid mesenchyme" 0 0 0 0 0 1 -MONDO:0000700 "familial hemiplegic migraine" 1 13 0 0 0 1 +MONDO:0000700 "familial hemiplegic migraine" 1 12 0 0 0 1 MONDO:0005913 "phlebotomus fever" 1 7 0 0 0 1 CL:1000682 "kidney medulla interstitial cell" 0 1 0 0 0 1 GO:0071295 "cellular response to vitamin" 1 0 0 0 0 0 MONDO:0019819 "double-orifice mitral valve" 0 4 0 0 0 0 CHEBI:76863 "EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor" 1 0 0 0 0 0 -MONDO:0014378 "primary ciliary dyskinesia 29" 1 5 0 0 0 1 +MONDO:0014378 "primary ciliary dyskinesia 29" 1 4 0 0 0 1 HP:0011844 "Abnormal appendicular skeleton morphology" 1 1 0 0 0 0 MONDO:0002222 "urethra leiomyoma" 1 3 0 0 0 1 MONDO:0005531 "morphine dependence" 1 4 0 0 0 0 @@ -38318,12 +38327,12 @@ MONDO:0020029 "obsolete rare genetic cardiac disease" 1 2 0 0 0 0 http://identifiers.org/hgnc/2666 "DAG1" 0 0 0 0 0 0 MONDO:0011489 "hereditary spastic paraplegia 12" 1 8 0 0 0 1 MONDO:0031001 "vitreoretinopathy with phalangeal epiphyseal dysplasia" 0 1 0 0 0 0 -MONDO:0000723 "stutter disorder" 1 8 0 0 0 0 +MONDO:0000723 "stutter disorder" 1 7 0 0 0 0 MONDO:0009209 "autosomal recessive faciodigitogenital syndrome" 1 3 0 0 0 0 NCBITaxon:7203 "Brachycera" 0 1 0 0 0 0 CL:0002113 "B220-low CD38-negative unswitched memory B cell" 1 0 0 0 0 0 HP:0025278 "Cold-induced sweating" 1 0 0 0 0 0 -MONDO:0014011 "autosomal recessive congenital ichthyosis 10" 1 5 0 0 0 1 +MONDO:0014011 "autosomal recessive congenital ichthyosis 10" 1 4 0 0 0 1 MONDO:0010093 "syndesmodysplasic dwarfism" 0 4 0 0 0 0 MONDO:0003183 "obsolete trachea adenoid cystic carcinoma" 0 0 0 0 0 0 MONDO:0013087 "bronchiectasis with or without elevated sweat chloride 2" 1 5 0 0 0 1 @@ -38339,14 +38348,14 @@ UBERON:0004993 "mucosa of sigmoid colon" 0 0 0 0 0 1 MONDO:0008655 "vestibulocochlear dysfunction, progressive" 0 4 0 0 0 0 MONDO:0017091 "bilateral polymicrogyria" 1 10 0 0 0 0 MONDO:0010724 "obsolete RP6" 0 0 0 0 0 0 -MONDO:0005385 "vascular disorder" 1 9 0 0 0 1 +MONDO:0005385 "vascular disorder" 1 12 0 0 0 1 MONDO:0006324 "normal breast-like subtype of breast carcinoma" 1 3 0 0 0 0 CL:0002267 "type D cell of stomach" 1 1 0 0 0 1 MONDO:0010609 "obsolete Hirschsprung disease with type d brachydactyly" 0 0 0 0 0 0 HP:0010989 "Abnormality of the intrinsic pathway" 1 1 0 0 0 0 MONDO:0004205 "lymphohistiocytoid mesothelioma" 0 3 0 0 0 0 CL:0000362 "epidermal cell" 1 3 0 0 0 1 -MONDO:0011001 "Brugada syndrome 1" 1 6 0 0 0 1 +MONDO:0011001 "Brugada syndrome 1" 1 5 0 0 0 1 MONDO:0003339 "obsolete hepatoerythropoietic porphyria" 0 0 0 0 0 0 MONDO:0024530 "Bethlem myopathy 1" 0 4 0 0 0 0 UBERON:0015037 "pedal digit 1 metatarsal endochondral element" 0 0 0 0 0 2 @@ -38372,7 +38381,7 @@ GO:1905125 "positive regulation of glucosylceramidase activity" 1 0 0 0 0 1 CHEBI:17781 "lumichrome" 1 0 0 0 0 0 MONDO:0020354 "coloboma of choroid and retina" 1 5 0 0 0 0 MONDO:0005140 "ovarian carcinoma" 1 6 0 0 0 0 -MONDO:0019672 "fibular hemimelia" 1 2 0 0 0 0 +MONDO:0019672 "fibular hemimelia" 1 1 0 0 0 0 MONDO:0001221 "esophageal varices" 1 12 0 0 0 1 MONDO:0021932 "infection by Trypanosoma gambiense" 1 5 0 0 0 1 MONDO:0043343 "Chilaiditi syndrome" 1 3 0 0 0 0 @@ -38380,8 +38389,8 @@ CL:0002231 "epithelial cell of prostate" 1 2 0 0 0 1 http://identifiers.org/hgnc/14412 "AGXT2" 0 0 0 0 0 0 MONDO:0008766 "amaurosis-hypertrichosis syndrome" 1 6 0 0 0 0 MONDO:0033565 "oocyte maturation defect 9" 0 1 0 0 0 0 -MONDO:0006668 "bacterial conjunctivitis" 1 9 0 0 0 1 -MONDO:0006170 "conjunctival disorder" 1 3 0 0 0 1 +MONDO:0006668 "bacterial conjunctivitis" 1 8 0 0 0 1 +MONDO:0006170 "conjunctival disorder" 1 4 0 0 0 1 NCBITaxon:27872 "Xiphidiata" 0 1 0 0 0 0 MONDO:0033564 "oocyte maturation defect 8" 0 1 0 0 0 0 UBERON:0011159 "primary subdivision of cranial skeletal system" 0 0 0 0 0 0 @@ -38402,7 +38411,7 @@ MONDO:0700013 "chromosome 6 disorder" 1 0 0 0 0 1 MONDO:0012667 "dilated cardiomyopathy 1W" 1 5 0 0 0 1 UBERON:0002507 "abdominal lymph node" 0 0 0 0 0 1 CHR:9606-chr5q22 "5q22 (Human)" 0 0 0 0 0 0 -MONDO:0007278 "cataract 32 multiple types" 1 6 0 0 0 0 +MONDO:0007278 "cataract 32 multiple types" 1 5 0 0 0 0 http://identifiers.org/hgnc/568 "AP3D1" 0 0 0 0 0 0 MONDO:0018704 "obsolete actinomycosis" 0 0 0 0 0 0 http://identifiers.org/hgnc/10914 "SLC12A6" 0 0 0 0 0 0 @@ -38412,7 +38421,7 @@ MONDO:0006641 "afferent loop syndrome" 1 7 0 0 0 0 MONDO:0011063 "hidrotic ectodermal dysplasia, Christianson-Fourie type" 1 6 0 0 0 0 MONDO:0019627 "isolated congenital alacrima" 1 6 0 0 0 1 NCBITaxon:39107 "Murinae" 0 1 0 0 0 0 -MONDO:0016032 "femoral agenesis/hypoplasia" 1 5 0 0 0 0 +MONDO:0016032 "femoral agenesis/hypoplasia" 1 4 0 0 0 0 GO:0070278 "extracellular matrix constituent secretion" 1 0 0 0 0 0 ECTO:9001655 "exposure to cofactor" 1 0 0 0 0 1 UBERON:0001780 "spinal nerve" 0 0 0 0 0 1 @@ -38428,7 +38437,7 @@ GO:0016525 "negative regulation of angiogenesis" 1 0 0 0 0 1 GO:0006163 "purine nucleotide metabolic process" 1 0 0 0 0 0 GO:0051640 "organelle localization" 1 0 0 0 0 0 http://identifiers.org/hgnc/14244 "RAB18" 0 0 0 0 0 0 -MONDO:0013717 "asphyxiating thoracic dystrophy 5" 1 5 0 0 0 1 +MONDO:0013717 "asphyxiating thoracic dystrophy 5" 1 4 0 0 0 1 http://identifiers.org/hgnc/417 "ALDOB" 0 0 0 0 0 0 GO:0005634 "nucleus"@en 1 0 0 0 0 0 GO:0005634 "nucleus" 1 0 0 0 0 0 @@ -38443,7 +38452,7 @@ MONDO:0018952 "argyria" 1 4 0 0 0 0 http://identifiers.org/hgnc/10818 "SGSH" 0 0 0 0 0 0 UBERON:0010913 "vertebral element" 0 0 0 0 0 0 MONDO:0007441 "dentinogenesis imperfecta type 2" 1 5 0 0 0 0 -MONDO:0010726 "Rett syndrome" 1 14 0 0 0 0 +MONDO:0010726 "Rett syndrome" 1 13 0 0 0 0 ENVO:01000343 "altitudinal condition" 1 0 0 0 0 0 MONDO:0011663 "juvenile primary lateral sclerosis" 1 7 0 0 0 0 MONDO:0006141 "cervical villoglandular adenocarcinoma" 1 5 0 0 0 1 @@ -38452,7 +38461,7 @@ GO:0016817 "hydrolase activity, acting on acid anhydrides" 1 0 0 0 0 0 MONDO:0024245 "ductal eccrine adenocarcinoma" 0 3 0 0 0 0 http://identifiers.org/hgnc/11389 "STK11" 0 0 0 0 0 0 UBERON:0001568 "muscle of larynx" 0 0 0 0 0 1 -MONDO:0010016 "sclerosteosis 1" 1 6 0 0 0 1 +MONDO:0010016 "sclerosteosis 1" 1 5 0 0 0 1 HP:0030724 "Central nervous system cyst" 1 3 0 0 0 0 GO:2000828 "regulation of parathyroid hormone secretion" 1 0 0 0 0 1 NCBITaxon:32066 "Fusobacteria" 0 4 0 0 0 0 @@ -38485,7 +38494,7 @@ MONDO:0017729 "metachromatic leukodystrophy, late infantile form" 0 2 0 0 0 0 http://identifiers.org/hgnc/414 "ALDOA" 0 0 0 0 0 0 CHR:9606-chr16q22 "16q22 (Human)" 0 0 0 0 0 0 MONDO:0044906 "bladder urothelial papilloma" 1 1 0 0 0 1 -MONDO:0007015 "viral meningitis" 1 12 0 0 0 0 +MONDO:0007015 "viral meningitis" 1 11 0 0 0 0 UBERON:0002006 "cortex of lymph node" 0 0 0 0 0 1 MONDO:0017109 "isolated partial cerebellar vermis agenesis" 0 2 0 0 0 0 MONDO:0003655 "cerebral lymphoma" 1 4 0 0 0 0 @@ -38506,8 +38515,8 @@ MONDO:0020766 "neuropathy, congenital hypomyelinating, 3" 0 1 0 0 0 0 HP:0011029 "Internal hemorrhage" 1 1 0 0 0 0 GO:0042755 "eating behavior" 1 0 0 0 0 0 MONDO:0012066 "atrial fibrillation, familial, 1" 0 4 0 0 0 0 -MONDO:0002305 "thrombophilia" 1 8 0 0 0 0 -MONDO:0004037 "retinal edema" 0 5 0 0 0 0 +MONDO:0002305 "thrombophilia" 1 7 0 0 0 0 +MONDO:0004037 "retinal edema" 0 4 0 0 0 0 MONDO:0005956 "septicemic plague" 1 7 0 0 0 1 CL:1000615 "kidney cortex tubule cell" 0 1 0 0 0 1 HP:0000820 "Abnormality of the thyroid gland" 1 3 0 0 0 0 @@ -38520,7 +38529,7 @@ MONDO:0014837 "thrombocytopenia 6" 0 3 0 0 0 1 MONDO:0014929 "retinitis pigmentosa 76" 1 2 0 0 0 1 HP:0003077 "Hyperlipidemia" 1 3 0 0 0 0 MONDO:0009084 "conductive deafness-ptosis-skeletal anomalies syndrome" 1 6 0 0 0 0 -MONDO:0005349 "otosclerosis" 1 21 0 0 0 0 +MONDO:0005349 "otosclerosis" 1 19 0 0 0 0 UBERON:0010884 "forelimb bone pre-cartilage condensation" 0 0 0 0 0 1 MONDO:0019722 "glomerular disorder" 1 6 0 0 0 1 http://identifiers.org/hgnc/7660 "NCF1" 0 0 0 0 0 0 @@ -38550,11 +38559,11 @@ UBERON:0035839 "esophagogastric junction submucosa" 0 0 0 0 0 1 CHEBI:25985 "phenylalanine derivative" 1 0 0 0 0 0 GO:0043903 "regulation of biological process involved in symbiotic interaction" 1 0 0 0 0 1 http://identifiers.org/hgnc/15508 "PUS1" 0 0 0 0 0 0 -MONDO:0009324 "Hartnup disease" 1 11 0 0 0 0 -MONDO:0005357 "Creutzfeldt Jacob disease" 1 11 0 0 0 0 +MONDO:0009324 "Hartnup disease" 1 10 0 0 0 0 +MONDO:0005357 "Creutzfeldt Jacob disease" 1 9 0 0 0 0 UBERON:0004986 "mucosa of deferent duct" 0 0 0 0 0 1 UBERON:0000094 "membrane organ" 0 0 0 0 0 0 -MONDO:0019356 "urogenital tract malformation" 0 1 0 0 0 0 +MONDO:0019356 "urogenital tract malformation" 0 3 0 0 0 0 UBERON:0015057 "scapula endochondral element" 0 0 0 0 0 1 MONDO:0006576 "Ludwig's angina" 1 8 0 0 0 1 MONDO:0024377 "circadian rhythm sleep disorder, delayed sleep phase type" 1 5 0 0 0 0 @@ -38563,7 +38572,7 @@ MONDO:0004279 "glossopharyngeal motor neuropathy" 1 3 0 0 0 1 MONDO:0020765 "neuropathy, congenital hypomyelinating, 2" 0 1 0 0 0 0 UBERON:0011198 "muscle layer of large intestine" 0 0 0 0 0 1 MONDO:0000223 "obsolete chikungunya" 0 0 0 0 0 0 -MONDO:0013780 "retinitis pigmentosa 63" 1 5 0 0 0 0 +MONDO:0013780 "retinitis pigmentosa 63" 1 4 0 0 0 0 MONDO:0012416 "Devriendt syndrome" 0 4 0 0 0 0 MONDO:0001301 "rumination disorder" 1 6 0 0 0 0 UBERON:0019207 "chorioretinal region" 0 0 0 0 0 0 @@ -38582,7 +38591,7 @@ MONDO:0024298 "vitamin deficiency disorder" 1 8 0 0 0 0 HP:0004447 "Poikilocytosis" 1 2 0 0 0 0 GO:0016628 "oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor" 1 0 0 0 0 0 GO:0060556 "regulation of vitamin D biosynthetic process" 1 0 0 0 0 1 -MONDO:0009101 "Wolfram syndrome 1" 1 5 0 0 0 1 +MONDO:0009101 "Wolfram syndrome 1" 1 4 0 0 0 1 http://identifiers.org/hgnc/2594 "CYP19A1" 0 0 0 0 0 0 UBERON:0035608 "dura mater lymph vessel" 0 0 0 0 0 1 MONDO:0019461 "B-cell prolymphocytic leukemia" 1 9 0 0 0 0 @@ -38593,7 +38602,7 @@ MONDO:0017487 "radial hemimelia, bilateral" 0 2 0 0 0 0 GO:0046916 "cellular transition metal ion homeostasis" 1 0 0 0 0 0 UBERON:0007530 "migrating mesenchyme population" 0 0 0 0 0 1 GO:2001257 "regulation of cation channel activity" 1 0 0 0 0 1 -MONDO:0009076 "autosomal recessive nonsyndromic hearing loss 1A" 1 6 0 0 0 0 +MONDO:0009076 "autosomal recessive nonsyndromic hearing loss 1A" 1 5 0 0 0 0 MONDO:0019753 "localized Castleman disease" 1 6 0 0 0 0 NCBITaxon:6760 "Scylla" 0 1 0 0 0 0 MONDO:0007981 "metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A" 0 4 0 0 0 0 @@ -38612,8 +38621,8 @@ MONDO:0005774 "glanders" 1 9 0 0 0 1 MONDO:0000269 "obsolete inhalation anthrax" 0 0 0 0 0 0 MONDO:0000721 "xanthinuria" 1 2 0 0 0 1 UBERON:0009889 "secondary heart field" 0 0 0 0 0 0 -MONDO:0019118 "inherited retinal dystrophy" 1 18 0 0 0 1 -MONDO:0018513 "squamous cell carcinoma of colon" 1 15 0 0 0 1 +MONDO:0019118 "inherited retinal dystrophy" 1 17 0 0 0 1 +MONDO:0018513 "squamous cell carcinoma of colon" 1 6 0 0 0 1 UBERON:0005017 "mucosa of lacrimal sac" 0 0 0 0 0 1 http://identifiers.org/hgnc/12726 "VWF" 0 0 0 0 0 0 GO:0060841 "venous blood vessel development" 1 0 0 0 0 0 @@ -38635,7 +38644,7 @@ GO:0060986 "endocrine hormone secretion" 1 0 0 0 0 0 CHEBI:38070 "anti-arrhythmia drug" 1 0 0 0 0 0 MONDO:0000686 "alexia without agraphia" 1 2 0 0 0 0 NCBITaxon:90964 "Staphylococcaceae" 0 1 0 0 0 0 -MONDO:0007130 "congenital total pulmonary venous return anomaly" 1 13 0 0 0 0 +MONDO:0007130 "congenital total pulmonary venous return anomaly" 1 11 0 0 0 0 MONDO:0001739 "purulent labyrinthitis" 1 4 0 0 0 0 GO:0044062 "regulation of excretion" 1 0 0 0 0 1 MONDO:0009120 "diverticulosis of bowel, hernia, and retinal detachment" 1 5 0 0 0 0 @@ -38647,9 +38656,9 @@ MONDO:0022410 "retinal ciliopathy" 0 1 0 0 0 1 MONDO:0007940 "malignant hyperthermia, susceptibility to, 3" 0 4 0 0 0 0 MONDO:0021385 "extrahepatic bile duct neoplasm" 1 3 0 0 0 1 MONDO:0019949 "zebra body myopathy" 0 5 0 0 0 0 -MONDO:0017814 "primary bone lymphoma" 1 7 0 0 0 1 +MONDO:0017814 "primary bone lymphoma" 1 5 0 0 0 1 MONDO:0017269 "X-linked ichthyosis syndrome" 1 2 0 0 0 1 -MONDO:0005967 "splenic tuberculosis" 1 7 0 0 0 1 +MONDO:0005967 "splenic tuberculosis" 1 6 0 0 0 1 GO:0061307 "cardiac neural crest cell differentiation involved in heart development" 1 0 0 0 0 1 MONDO:0021381 "neoplasm of pericardium" 1 3 0 0 0 1 MONDO:0013862 "immunodeficiency, common variable, 7" 0 3 0 0 0 0 @@ -38682,23 +38691,26 @@ http://identifiers.org/hgnc/7468 "MTR" 0 0 0 0 0 0 CHEBI:24319 "EC 6.3.1.2 (glutamate--ammonia ligase) inhibitor" 1 0 0 0 0 0 ENVO:02000091 "coal" 1 0 0 0 0 0 UBERON:0011773 "upper jaw opening" 0 0 0 0 0 1 +MONDO:0016963 "obsolete partial duplication of the long arm of chromosome 13" 0 0 0 0 0 0 UBERON:0001653 "facial vein" 0 0 0 0 0 0 -MONDO:0001588 "chronic lacrimal gland enlargement" 0 5 0 0 0 0 +MONDO:0001588 "chronic lacrimal gland enlargement" 0 4 0 0 0 0 http://identifiers.org/hgnc/10998 "SLC27A4" 0 0 0 0 0 0 UBERON:0006321 "superior oblique extraocular muscle" 0 0 0 0 0 0 MONDO:0007137 "isolated congenital anosmia" 1 6 0 0 0 0 UBERON:0000068 "embryo stage" 1 0 0 0 0 0 +MONDO:0007622 "obsolete flood factor deficiency" 0 3 0 0 0 0 UBERON:0002772 "olfactory sulcus" 0 0 0 0 0 0 MONDO:0030907 "intellectual disability, X-linked 106" 0 2 0 0 0 0 -MONDO:0010822 "Warburg micro syndrome 1" 1 4 0 0 0 1 +MONDO:0010822 "Warburg micro syndrome 1" 1 3 0 0 0 1 MONDO:0020813 "benign testicular sertoli cell tumor" 1 1 0 0 0 1 MONDO:0030859 "COACH syndrome 2" 0 1 0 0 0 1 MONDO:0006153 "colon juvenile polyp" 1 3 0 0 0 0 CL:0005024 "somatomotor neuron"@en 1 0 0 0 0 1 -MONDO:0005041 "glaucoma" 1 14 0 0 0 0 +MONDO:0005041 "glaucoma" 1 11 0 0 0 0 HP:0000316 "Hypertelorism" 1 4 0 0 0 0 MONDO:0001785 "malignant secondary hypertension" 0 5 0 0 0 1 MONDO:0017980 "syngnathia multiple anomalies" 0 2 0 0 0 0 +MONDO:0011554 "obsolete deafness, nonsyndromic, modifier 1" 0 1 0 0 0 0 UBERON:0008425 "mammary ridge" 0 0 0 0 0 0 MONDO:0020792 "dwarfism with tall vertebrae" 0 1 0 0 0 0 GO:0016747 "acyltransferase activity, transferring groups other than amino-acyl groups" 1 0 0 0 0 0 @@ -38744,6 +38756,7 @@ UBERON:0006614 "aponeurosis" 0 0 0 0 0 0 MONDO:0005482 "molar-incisor hypomineralization" 1 3 0 0 0 0 MONDO:0002280 "anemia" 1 9 0 0 0 0 CL:0000103 "bipolar neuron" 1 1 0 0 0 1 +MONDO:0016962 "obsolete partial duplication of the long arm of chromosome 11" 0 0 0 0 0 0 CHEBI:33295 "diagnostic agent" 1 0 0 0 0 0 HP:0010936 "Abnormality of the lower urinary tract" 1 1 0 0 0 0 UBERON:0008951 "left lung lobe" 0 0 0 0 0 1 @@ -38760,7 +38773,7 @@ MONDO:0014265 "Alzheimer disease 18" 1 3 0 0 0 1 BFO:0000015 "process"@en 4 0 0 0 0 0 BFO:0000015 "process" 4 0 0 0 0 0 GO:0003097 "renal water transport" 1 0 0 0 0 0 -MONDO:0020743 "mixed phenotype acute leukemia" 1 4 0 0 0 0 +MONDO:0020743 "mixed phenotype acute leukemia" 1 3 0 0 0 0 UBERON:0006535 "skin secretion" 0 0 0 0 0 1 UBERON:0004332 "proximal phalanx of pedal digit 1" 0 0 0 0 0 1 MONDO:0007060 "spermatogenic failure 6" 1 5 0 0 0 1 @@ -38822,7 +38835,7 @@ MONDO:0006710 "complex partial epilepsy" 1 6 0 0 0 0 http://identifiers.org/hgnc/10313 "RPL21" 0 0 0 0 0 0 HP:0007858 "Chorioretinal lacunae" 1 2 0 0 0 0 UBERON:0015796 "liver blood vessel" 0 0 0 0 0 1 -MONDO:0001663 "hole retinal cyst" 0 5 0 0 0 0 +MONDO:0001663 "hole retinal cyst" 0 4 0 0 0 0 MONDO:0014636 "combined oxidative phosphorylation defect type 25" 1 6 0 0 0 1 GO:0106119 "negative regulation of sterol biosynthetic process" 1 0 0 0 0 1 GO:0098679 "obsolete regulation of carbohydrate catabolic process by regulation of transcription from RNA polymerase II promoter" 1 0 0 0 0 0 @@ -38839,7 +38852,7 @@ MONDO:0019518 "Waardenburg-Shah syndrome" 1 8 0 0 0 0 GO:0051181 "obsolete cofactor transport" 1 0 0 0 0 0 http://identifiers.org/hgnc/26006 "TTC19" 0 0 0 0 0 0 MONDO:0004437 "obsolete gastric signet ring cell adenocarcinoma" 0 0 0 0 0 0 -MONDO:0014123 "primary ciliary dyskinesia 21" 1 4 0 0 0 1 +MONDO:0014123 "primary ciliary dyskinesia 21" 1 3 0 0 0 1 HP:0002143 "Abnormality of the spinal cord" 1 4 0 0 0 0 http://identifiers.org/hgnc/3024 "DRD3" 0 0 0 0 0 0 CHR:9606-chr4q "4q (Human)" 0 0 0 0 0 0 @@ -38859,7 +38872,7 @@ GO:0022835 "transmitter-gated channel activity" 1 0 0 0 0 0 MONDO:0007012 "variant Creutzfeldt-Jakob disease" 1 12 0 0 0 0 http://identifiers.org/hgnc/815 "ATP2B2" 0 0 0 0 0 0 http://identifiers.org/hgnc/24526 "ATL3" 0 0 0 0 0 0 -MONDO:0001469 "cascade stomach" 0 5 0 0 0 0 +MONDO:0001469 "cascade stomach" 0 4 0 0 0 0 MONDO:0022855 "congenital vagal hyperreflexivity" 0 1 0 0 0 0 HP:0002249 "Melena" 1 8 0 0 0 0 MONDO:0006442 "tendon sheath fibroma" 1 5 0 0 0 1 @@ -38940,24 +38953,24 @@ MONDO:0019022 "sensorineural hearing loss-early graying-essential tremor syndrom http://identifiers.org/hgnc/2148 "CNGA1" 0 0 0 0 0 0 MONDO:0014927 "Joubert syndrome 27" 1 3 0 0 0 1 UBERON:0004365 "vitelline blood vessel" 0 0 0 0 0 1 -MONDO:0007239 "epidermolytic ichthyosis" 1 9 0 0 0 0 +MONDO:0007239 "epidermolytic ichthyosis" 1 8 0 0 0 0 GO:0046165 "alcohol biosynthetic process" 1 0 0 0 0 0 MONDO:0013177 "congenital muscular dystrophy due to integrin alpha-7 deficiency" 1 7 0 0 0 1 HP:0002921 "Abnormality of the cerebrospinal fluid" 1 1 0 0 0 0 GO:0001569 "branching involved in blood vessel morphogenesis" 1 0 0 0 0 1 MONDO:0005721 "obsolete coxsackievirus infectious disease" 0 0 0 0 0 0 -MONDO:0011413 "cataract 9 multiple types" 1 8 0 0 0 1 +MONDO:0011413 "cataract 9 multiple types" 1 7 0 0 0 1 GO:0051195 "obsolete negative regulation of cofactor metabolic process" 1 0 0 0 0 0 MONDO:0044714 "mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome" 0 3 0 0 0 0 GO:0009448 "gamma-aminobutyric acid metabolic process" 1 0 0 0 0 0 http://identifiers.org/hgnc/4933 "HLA-C" 0 0 0 0 0 0 http://identifiers.org/hgnc/15894 "PANK2" 0 0 0 0 0 0 MONDO:0100390 "acute myeloid leukemia, der12p" 1 1 0 0 0 0 -MONDO:0018935 "hairy cell leukemia" 1 15 0 0 0 0 +MONDO:0018935 "hairy cell leukemia" 1 14 0 0 0 0 MONDO:0019052 "inborn errors of metabolism" 1 10 0 0 0 1 NCBITaxon:11051 "Flavivirus" 0 1 0 0 0 0 CL:0000484 "connective tissue type mast cell" 1 0 0 0 0 1 -MONDO:0006543 "epidermolysis bullosa dystrophica" 1 10 0 0 0 0 +MONDO:0006543 "epidermolysis bullosa dystrophica" 1 9 0 0 0 0 MONDO:0020525 "transient neonatal diabetes mellitus" 1 10 0 0 0 1 ENVO:01001429 "land conversion process"@en 1 0 0 0 0 0 MONDO:0014201 "developmental and epileptic encephalopathy, 18" 0 5 0 0 0 0 @@ -38973,10 +38986,10 @@ MONDO:0001753 "female infertility of uterine origin" 0 4 0 0 0 0 MONDO:0016637 "obsolete thrombotic disorder due to an acquired platelet anomaly" 0 2 0 0 0 0 MONDO:0018620 "hypothalamic adipsic hypernatraemia syndrome" 0 3 0 0 0 0 MONDO:0011839 "Newfoundland cone-rod dystrophy" 1 4 0 0 0 1 -MONDO:0013174 "primary ciliary dyskinesia 13" 1 6 0 0 0 1 +MONDO:0013174 "primary ciliary dyskinesia 13" 1 5 0 0 0 1 MONDO:0014928 "Joubert syndrome 28" 1 3 0 0 0 1 GO:0031342 "negative regulation of cell killing" 1 0 0 0 0 1 -MONDO:0004863 "purulent endophthalmitis" 0 7 0 0 0 0 +MONDO:0004863 "purulent endophthalmitis" 0 6 0 0 0 0 UBERON:0006266 "nasolacrimal groove" 0 0 0 0 0 0 MONDO:0017240 "acrodysostosis with multiple hormone resistance" 0 5 0 0 0 0 MONDO:0024287 "congenital vascular malformation" 1 1 0 0 0 1 @@ -38990,7 +39003,6 @@ http://identifiers.org/hgnc/4932 "HLA-B" 0 0 0 0 0 0 FOODON:03411021 "fish or lower water animal"@en 1 0 0 0 0 1 UBERON:0007373 "inferior surface of tongue" 0 0 0 0 0 1 MONDO:0012999 "guanidinoacetate methyltransferase deficiency" 1 9 0 0 0 1 -MONDO:0007822 "incisors, long upper central" 0 1 0 0 0 0 MONDO:0100382 "acute myeloid leukemia, t(6;9)(p23;q34.1)" 1 2 0 0 0 0 MONDO:0100037 "juvenile onset pityriasis rubra pilaris" 1 1 0 0 0 1 http://identifiers.org/hgnc/3481 "ETFA" 0 0 0 0 0 0 @@ -39012,7 +39024,7 @@ MONDO:0010530 "obsolete anus, imperforate" 0 0 0 0 0 0 MONDO:0006991 "obsolete sympathetic ophthalmia" 0 0 0 0 0 0 GO:0060341 "regulation of cellular localization" 1 0 0 0 0 1 UBERON:0004989 "mucosa of appendix" 0 0 0 0 0 1 -MONDO:0017735 "congenital aortic valve stenosis" 0 5 0 0 0 0 +MONDO:0017735 "congenital aortic valve stenosis" 0 4 0 0 0 0 MONDO:0016115 "bulbospinal muscular atrophy of adulthood" 1 2 0 0 0 1 http://identifiers.org/hgnc/7820 "NHS" 0 0 0 0 0 0 http://identifiers.org/hgnc/9411 "PRKCSH" 0 0 0 0 0 0 @@ -39030,7 +39042,7 @@ http://identifiers.org/hgnc/4931 "HLA-A" 0 0 0 0 0 0 ENVO:01000010 "obsolete abiotic mesoscopic physical object" 0 0 0 0 0 0 CL:0001033 "hippocampal granule cell" 1 0 0 0 0 1 GO:0002715 "regulation of natural killer cell mediated immunity" 1 0 0 0 0 1 -MONDO:0019142 "inherited porphyria" 1 15 0 0 0 1 +MONDO:0019142 "inherited porphyria" 1 14 0 0 0 1 http://identifiers.org/hgnc/14344 "C1QTNF5" 0 0 0 0 0 0 UBERON:0035240 "posterior wall of oropharynx" 0 0 0 0 0 1 MONDO:0009308 "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative" 0 5 0 0 0 0 @@ -39038,10 +39050,10 @@ UBERON:0002726 "cervical spinal cord" 0 0 0 0 0 1 UBERON:0004805 "seminal vesicle epithelium" 0 0 0 0 0 1 MONDO:0043327 "cerebrospinal fluid leak" 1 3 0 0 0 0 MONDO:0019852 "inherited primary ovarian failure" 1 15 0 0 0 1 -MONDO:0006594 "pemphigus" 1 11 0 0 0 0 +MONDO:0006594 "pemphigus" 1 10 0 0 0 0 MONDO:0004523 "clear cell squamous cell skin carcinoma" 1 4 0 0 0 0 UBERON:0007148 "lumen of hindgut" 0 0 0 0 0 1 -MONDO:0000706 "chemical colitis" 1 5 0 0 0 1 +MONDO:0000706 "chemical colitis" 1 4 0 0 0 1 MONDO:0017170 "idiopathic recurrent stupor" 1 3 0 0 0 0 HP:0200000 "Dysharmonic bone age" 1 1 0 0 0 0 HP:0003112 "Abnormal circulating amino acid concentration" 1 1 0 0 0 0 @@ -39070,22 +39082,22 @@ UBERON:0018114 "right kidney interstitium" 0 0 0 0 0 1 http://identifiers.org/hgnc/21365 "LYRM4" 0 0 0 0 0 0 NCBITaxon:27458 "Chrysops" 0 1 0 0 0 0 MONDO:0011717 "hyperinsulinism-hyperammonemia syndrome" 1 8 0 0 0 0 -MONDO:0009099 "nephrogenic diabetes insipidus-intracranial calcification syndrome" 1 5 0 0 0 0 +MONDO:0009099 "nephrogenic diabetes insipidus-intracranial calcification syndrome" 1 4 0 0 0 0 MONDO:0010174 "Valinemia" 1 5 0 0 0 0 http://identifiers.org/hgnc/986 "BCKDHA" 0 0 0 0 0 0 MONDO:0016497 "paraparetic variant of Guillain-Barre syndrome" 1 3 0 0 0 0 http://identifiers.org/hgnc/20800 "SLC35D1" 0 0 0 0 0 0 HP:0002664 "Neoplasm" 1 6 0 0 0 0 MONDO:0006548 "facial dermatosis" 1 4 0 0 0 0 -MONDO:0000836 "disease of bone structure" 0 1 0 0 0 0 +MONDO:0000836 "disease of bone structure" 0 4 0 0 0 0 MONDO:0011956 "autism, susceptibility to, 3" 0 1 0 0 0 0 -MONDO:0005340 "alopecia areata" 1 11 0 0 0 0 +MONDO:0005340 "alopecia areata" 1 10 0 0 0 0 http://identifiers.org/hgnc/32528 "PRCD" 0 0 0 0 0 0 MONDO:0003717 "renal pelvis papillary tumor" 1 3 0 0 0 0 HP:0011123 "Inflammatory abnormality of the skin" 1 5 0 0 0 0 MONDO:0005006 "clear cell sarcoma of kidney" 1 9 0 0 0 1 MONDO:0014519 "chronic mountain sickness, susceptibility to" 0 2 0 0 0 0 -MONDO:0002884 "nail disorder" 1 9 0 0 0 1 +MONDO:0002884 "nail disorder" 1 7 0 0 0 1 http://identifiers.org/hgnc/15964 "DAZ2" 0 0 0 0 0 0 http://identifiers.org/hgnc/15965 "DAZ3" 0 0 0 0 0 0 MONDO:0016400 "obsolete metal transport or utilization disorder with epilepsy" 0 2 0 0 0 0 @@ -39109,7 +39121,7 @@ MONDO:0020259 "obsolete myopathy with eye involvement" 0 1 0 0 0 0 MONDO:0017502 "acheiria, unilateral" 0 2 0 0 0 0 CHEBI:32988 "amide" 1 0 0 0 0 0 MONDO:0010771 "histiocytoid cardiomyopathy" 1 10 0 0 0 0 -MONDO:0002449 "nodular degeneration of cornea" 0 5 0 0 0 0 +MONDO:0002449 "nodular degeneration of cornea" 0 4 0 0 0 0 MONDO:0012335 "obesity due to pro-opiomelanocortin deficiency" 1 9 0 0 0 1 GO:0014061 "regulation of norepinephrine secretion" 1 0 0 0 0 1 MONDO:0011512 "Brooke-Spiegler syndrome" 1 11 0 0 0 0 @@ -39132,8 +39144,8 @@ NCBITaxon:517 "Bordetella" 0 2 0 0 0 0 MONDO:0008212 "Pechet factor deficiency" 0 3 0 0 0 0 NCBITaxon:2845253 "Treponemataceae" 0 1 0 0 0 0 MONDO:0002860 "testis rhabdomyosarcoma" 1 3 0 0 0 1 -MONDO:0015758 "primary cutaneous T-cell lymphoma" 0 5 0 0 0 0 -MONDO:0004822 "bronchiectasis" 1 13 0 0 0 0 +MONDO:0015758 "primary cutaneous T-cell lymphoma" 0 4 0 0 0 0 +MONDO:0004822 "bronchiectasis" 1 12 0 0 0 0 MONDO:0015132 "immunodeficiency predominantly affecting antibody production" 0 11 0 0 0 0 GO:0044065 "regulation of respiratory system process" 1 0 0 0 0 1 MONDO:0011375 "brittle bone disorder" 0 3 0 0 0 0 @@ -39167,7 +39179,7 @@ MONDO:0002521 "obsolete multiple symmetrical lipomatosis" 0 0 0 0 0 0 http://identifiers.org/hgnc/20672 "PHF8" 0 0 0 0 0 0 MONDO:0044326 "developmental delay and seizures with or without movement abnormalities" 1 3 0 0 0 0 MONDO:0008959 "CHAND syndrome" 0 6 0 0 0 0 -MONDO:0016474 "drug-induced lupus erythematosus" 1 7 0 0 0 1 +MONDO:0016474 "drug-induced lupus erythematosus" 1 6 0 0 0 1 CL:0002537 "amnion mesenchymal stem cell" 1 0 0 0 0 1 MONDO:0005820 "Lassa fever" 1 10 0 0 0 1 MONDO:0013746 "ventricular septal defect 1" 1 2 0 0 0 1 @@ -39210,7 +39222,7 @@ MONDO:0000515 "bone chondrosarcoma" 1 1 0 0 0 1 MONDO:0011399 "alpha thalassemia" 1 12 0 0 0 0 GO:0045834 "positive regulation of lipid metabolic process" 1 0 0 0 0 1 http://identifiers.org/hgnc/11281 "SRA1" 0 0 0 0 0 0 -MONDO:0004591 "impetigo herpetiformis" 1 6 0 0 0 0 +MONDO:0004591 "impetigo herpetiformis" 1 5 0 0 0 0 http://identifiers.org/hgnc/17820 "NT5C3A" 0 0 0 0 0 0 GO:0042060 "wound healing" 1 0 0 0 0 0 HP:0011996 "Elevated coagulation factor V activity" 1 1 0 0 0 0 @@ -39296,7 +39308,7 @@ MONDO:0007074 "ainhum" 1 10 0 0 0 0 MONDO:0013378 "orofacial cleft 10" 1 4 0 0 0 1 GO:0051101 "regulation of DNA binding" 1 0 0 0 0 1 MONDO:0011668 "maturity-onset diabetes of the young type 6" 1 8 0 0 0 1 -MONDO:0004566 "postgastrectomy syndrome" 1 6 0 0 0 0 +MONDO:0004566 "postgastrectomy syndrome" 1 5 0 0 0 0 MONDO:0008994 "cleidocranial dysplasia, recessive form" 0 5 0 0 0 0 http://identifiers.org/hgnc/4867 "HERC1" 0 0 0 0 0 0 CL:0002043 "CD34-positive, CD38-negative multipotent progenitor cell" 1 0 0 0 0 0 @@ -39304,13 +39316,13 @@ MONDO:0006860 "obsolete mucoepidermoid tumor" 0 0 0 0 0 0 MONDO:0008731 "familial adrenal hypoplasia with absent pituitary luteinizing hormone" 0 5 0 0 0 0 UBERON:0001005 "respiratory airway" 0 0 0 0 0 0 NCBITaxon:2157 "Archaea" 0 26 0 0 0 0 -MONDO:0024305 "acquired hyperprolactinemia" 1 2 0 0 0 1 +MONDO:0024305 "acquired hyperprolactinemia" 1 1 0 0 0 1 UBERON:0035965 "wall of blood vessel" 0 0 0 0 0 1 GO:0009987 "cellular process" 1 0 0 0 0 0 MONDO:0017018 "isolated pulmonary capillaritis" 1 4 0 0 0 0 MONDO:0013651 "intellectual disability, autosomal recessive 18" 1 3 0 0 0 1 MONDO:0004017 "pineal region immature teratoma" 0 3 0 0 0 1 -MONDO:0011097 "Axenfeld-Rieger syndrome type 2" 1 6 0 0 0 0 +MONDO:0011097 "Axenfeld-Rieger syndrome type 2" 1 5 0 0 0 0 MONDO:0003168 "cerebellar pilocytic astrocytoma" 1 4 0 0 0 1 MONDO:0001326 "dental pulp necrosis" 1 6 0 0 0 0 MONDO:0014045 "Cowden syndrome 3" 1 3 0 0 0 1 @@ -39343,7 +39355,7 @@ GO:0030424 "axon" 1 0 0 0 0 0 CL:1000549 "kidney cortex collecting duct epithelial cell" 0 1 0 0 0 1 CL:0002292 "type I cell of carotid body" 1 1 0 0 0 0 MONDO:0005786 "Hepadnaviridae infectious disease" 1 3 0 0 0 1 -MONDO:0012762 "catecholaminergic polymorphic ventricular tachycardia 2" 1 6 0 0 0 1 +MONDO:0012762 "catecholaminergic polymorphic ventricular tachycardia 2" 1 5 0 0 0 1 ENVO:01001678 "fluid layer"@en 1 0 0 0 0 1 GO:0009991 "response to extracellular stimulus" 1 0 0 0 0 0 GO:0070134 "positive regulation of mitochondrial translational initiation" 1 0 0 0 0 1 @@ -39381,11 +39393,11 @@ MONDO:0000758 "bacillary angiomatosis" 1 6 0 0 0 1 MONDO:0019525 "tetrasomy X" 1 7 0 0 0 0 UBERON:0003838 "abdominal segment connective tissue" 0 0 0 0 0 1 HP:0031690 "Opportunistic infection" 1 0 0 0 0 0 -MONDO:0017438 "amelia of lower limb" 1 4 0 0 0 1 +MONDO:0017438 "amelia of lower limb" 1 3 0 0 0 1 MONDO:0010117 "3M syndrome 1" 1 2 0 0 0 1 UBERON:0004404 "distal epiphysis of humerus" 0 0 0 0 0 1 -MONDO:0018911 "maturity-onset diabetes of the young" 1 24 0 0 0 0 -MONDO:0008056 "myotonic dystrophy type 1" 1 11 0 0 0 1 +MONDO:0018911 "maturity-onset diabetes of the young" 1 23 0 0 0 0 +MONDO:0008056 "myotonic dystrophy type 1" 1 10 0 0 0 1 MONDO:0020393 "discrete fibromuscular subaortic stenosis" 0 2 0 0 0 0 MONDO:0012015 "nystagmus 3, congenital, autosomal dominant" 0 4 0 0 0 0 MONDO:0021522 "benign neoplasm of lower jaw bone" 1 5 0 0 0 1 @@ -39402,7 +39414,7 @@ UBERON:0011974 "epiphysis of proximal phalanx of pes" 0 0 0 0 0 1 MONDO:0018962 "common mesentery" 0 4 0 0 0 0 MONDO:0003713 "angiokeratoma circumscriptum" 0 4 0 0 0 0 MONDO:0008793 "angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert" 0 4 0 0 0 0 -MONDO:0019562 "localized scleroderma" 1 10 0 0 0 0 +MONDO:0019562 "localized scleroderma" 1 9 0 0 0 0 MONDO:0025453 "pneumonia, progressive interstitial, of sheep" 1 2 0 0 0 0 GO:0032057 "negative regulation of translational initiation in response to stress" 1 0 0 0 0 1 MONDO:0014120 "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13" 0 4 0 0 0 0 @@ -39419,10 +39431,10 @@ MONDO:0024540 "Jervell and Lange-Nielsen syndrome 1" 1 5 0 0 0 1 GO:0043270 "positive regulation of ion transport" 1 0 0 0 0 1 MONDO:0009094 "dermochondrocorneal dystrophy" 1 7 0 0 0 0 MONDO:0014801 "even-plus syndrome" 0 3 0 0 0 0 -MONDO:0008846 "atransferrinemia" 1 9 0 0 0 0 +MONDO:0008846 "atransferrinemia" 1 8 0 0 0 0 MONDO:0012646 "glaucoma 1, open angle, H" 0 3 0 0 0 0 MONDO:0002382 "benign mesenchymoma" 1 4 0 0 0 1 -MONDO:0013966 "catecholaminergic polymorphic ventricular tachycardia 4" 1 5 0 0 0 1 +MONDO:0013966 "catecholaminergic polymorphic ventricular tachycardia 4" 1 4 0 0 0 1 MONDO:0009997 "Roberts syndrome" 1 8 0 0 0 0 MONDO:0023008 "obsolete drachtman weinblatt sitarz syndrome" 0 0 0 0 0 0 ENVO:09000005 "amount of carbon atom in soil" 1 0 0 0 0 1 @@ -39451,7 +39463,6 @@ MONDO:0007020 "Wernicke encephalopathy" 1 8 0 0 0 0 MONDO:0001845 "uterine corpus lipoleiomyoma" 1 4 0 0 0 0 http://identifiers.org/hgnc/25583 "ODAD2" 0 0 0 0 0 0 FOODON:03414374 "bovine"@en 1 0 0 0 0 0 -MONDO:0007692 "hairy ears" 0 3 0 0 0 0 MONDO:0019848 "posterior hypospadias" 1 3 0 0 0 0 MONDO:0008670 "Waardenburg syndrome type 1" 1 8 0 0 0 0 MONDO:0011003 "dilated cardiomyopathy 1E" 1 7 0 0 0 1 @@ -39486,7 +39497,7 @@ MONDO:0003286 "extrahepatic bile duct leiomyoma" 1 3 0 0 0 1 MONDO:0009952 "radioulnar synostosis-developmental delay-hypotonia syndrome" 1 7 0 0 0 0 MONDO:0017126 "oculo-skeletal-renal syndrome" 0 3 0 0 0 0 GO:0046323 "glucose import" 1 0 0 0 0 0 -MONDO:0004681 "learning disability" 1 7 0 0 0 0 +MONDO:0004681 "learning disability" 1 6 0 0 0 0 GO:0002344 "B cell affinity maturation" 1 0 0 0 0 0 NCBITaxon:1980519 "Crimean-Congo hemorrhagic fever orthonairovirus" 0 1 0 0 0 0 MONDO:0010970 "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies" 0 4 0 0 0 0 @@ -39506,7 +39517,7 @@ MONDO:0016327 "obsolete mitochondrial disease with hypertrophic cardiomyopathy" CHEBI:29202 "isocyanic acid" 1 0 0 0 0 0 MONDO:0013246 "fatty liver disease, nonalcoholic, susceptibility to, 2" 0 1 0 0 0 0 http://identifiers.org/hgnc/10548 "ATXN1" 0 0 0 0 0 0 -MONDO:0001160 "dissociative disorder" 1 7 0 0 0 0 +MONDO:0001160 "dissociative disorder" 1 5 0 0 0 0 CHEBI:35274 "ammonium ion derivative" 1 0 0 0 0 0 FOODON:03420194 "egg or egg component"@en 1 0 0 0 0 0 MONDO:0023113 "familial colorectal cancer" 1 3 0 0 0 1 @@ -39544,7 +39555,7 @@ MONDO:0008338 "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1 http://identifiers.org/hgnc/8148 "OPHN1" 0 0 0 0 0 0 GO:0005246 "calcium channel regulator activity" 1 0 0 0 0 1 PO:0000003 "whole plant" 1 2 0 0 0 0 -MONDO:0013632 "autosomal dominant nonsyndromic hearing loss 33" 1 4 0 0 0 0 +MONDO:0013632 "autosomal dominant nonsyndromic hearing loss 33" 1 3 0 0 0 0 MONDO:0006839 "Lutembacher syndrome" 1 5 0 0 0 0 http://identifiers.org/hgnc/6091 "INSR" 0 0 0 0 0 0 MONDO:0013450 "congenital stationary night blindness 1D" 1 3 0 0 0 1 @@ -39565,7 +39576,7 @@ UBERON:0003725 "cervical nerve plexus" 0 0 0 0 0 1 UBERON:0003820 "prostate bud" 0 0 0 0 0 1 MONDO:0011145 "colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome" 0 5 0 0 0 0 UBERON:0001834 "upper lip" 0 0 0 0 0 1 -MONDO:0001561 "pyloric stenosis" 1 10 0 0 0 0 +MONDO:0001561 "pyloric stenosis" 1 9 0 0 0 0 http://identifiers.org/hgnc/4135 "GALT" 0 0 0 0 0 0 MONDO:0016823 "mycetoma" 1 11 0 0 0 0 HP:0011675 "Arrhythmia" 1 11 0 0 0 0 @@ -39574,7 +39585,7 @@ MONDO:0003152 "adult brainstem gliosarcoma" 0 3 0 0 0 0 MONDO:0015214 "syndromic visceral malformation" 0 2 0 0 0 0 MONDO:0013479 "dilated cardiomyopathy 1HH" 1 5 0 0 0 1 UBERON:0012193 "phrenic vein" 0 0 0 0 0 1 -MONDO:0007542 "Camurati-Engelmann disease" 1 10 0 0 0 0 +MONDO:0007542 "Camurati-Engelmann disease" 1 9 0 0 0 0 UBERON:0011755 "female labial swelling" 0 0 0 0 0 1 MONDO:0012230 "myopia 10" 0 3 0 0 0 0 MONDO:0010104 "non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome" 1 6 0 0 0 0 @@ -39611,7 +39622,7 @@ UBERON:0004054 "internal male genitalia" 0 0 0 0 0 1 GO:1902271 "D3 vitamins binding" 1 0 0 0 0 0 MONDO:0007322 "chondrodysplasia punctata, tibial-metacarpal type" 0 6 0 0 0 0 MONDO:0004216 "pineal region germinoma" 1 6 0 0 0 1 -MONDO:0004230 "adenomatoid tumor" 1 8 0 0 0 0 +MONDO:0004230 "adenomatoid tumor" 1 7 0 0 0 0 CL:0002597 "smooth muscle cell of bladder" 1 1 0 0 0 1 MONDO:0017029 "Langerhans cell histiocytosis specific to adulthood" 1 3 0 0 0 0 GO:0018904 "ether metabolic process" 1 0 0 0 0 0 @@ -39625,10 +39636,10 @@ MONDO:0015129 "chronic primary adrenal insufficiency" 1 13 0 0 0 1 http://identifiers.org/hgnc/21699 "CERKL" 0 0 0 0 0 0 MONDO:0011047 "deafness-epiphyseal dysplasia-short stature syndrome" 1 6 0 0 0 0 UBERON:0001482 "muscle of shoulder" 0 0 0 0 0 1 -MONDO:0001596 "hypochondriasis" 1 7 0 0 0 0 +MONDO:0001596 "hypochondriasis" 1 5 0 0 0 0 GO:0008380 "RNA splicing" 1 0 0 0 0 0 UBERON:0006312 "ocular refractive media" 0 0 0 0 0 0 -MONDO:0005272 "refractory anemia" 1 10 0 0 0 0 +MONDO:0005272 "refractory anemia" 1 9 0 0 0 0 GO:0017168 "5-oxoprolinase (ATP-hydrolyzing) activity" 1 0 0 0 0 0 MONDO:0001727 "active cochleovestibular Meniere disease" 0 4 0 0 0 0 MONDO:0060714 "tumoral calcinosis, hyperphosphatemic, familial, 2" 0 1 0 0 0 0 @@ -39636,7 +39647,7 @@ MONDO:0007646 "Gamstorp-Wohlfart syndrome" 1 7 0 0 0 0 MONDO:0021025 "cirrhosis, familial, with antigenemia" 0 1 0 0 0 0 HP:0011843 "Abnormality of musculoskeletal physiology" 1 1 0 0 0 0 MONDO:0032760 "developmental delay with or without dysmorphic facies and autism" 0 1 0 0 0 0 -MONDO:0005881 "oligohydramnios" 1 10 0 0 0 0 +MONDO:0005881 "oligohydramnios" 1 8 0 0 0 0 MONDO:0021047 "breast phyllodes tumor" 1 4 0 0 0 1 http://identifiers.org/hgnc/4315 "GLE1" 0 0 0 0 0 0 GO:0019184 "nonribosomal peptide biosynthetic process" 1 0 0 0 0 0 @@ -39665,7 +39676,7 @@ MONDO:0013527 "lissencephaly 4" 1 3 0 0 0 1 UBERON:0003893 "capsule" 0 0 0 0 0 0 MONDO:0044996 "cerebral cortex disorder" 1 2 0 0 0 1 MONDO:0005078 "phyllodes tumor" 1 3 0 0 0 0 -MONDO:0007018 "vulvitis" 1 7 0 0 0 1 +MONDO:0007018 "vulvitis" 1 6 0 0 0 1 CHEBI:33856 "aromatic amino acid" 1 0 0 0 0 0 MONDO:0002366 "autonomic nervous system neoplasm" 1 3 0 0 0 1 IAO:8000001 "base ontology module"@en 1 0 0 0 0 0 @@ -39714,7 +39725,7 @@ MONDO:0042486 "polyposis syndrome, hereditary mixed, 1" 0 3 0 0 0 0 MONDO:0016209 "benign familial nocturnal alternating hemiplegia of childhood" 1 2 0 0 0 0 CL:1001601 "adrenal gland glandular cell" 1 1 0 0 0 1 UBERON:0034710 "spinal cord ventricular layer" 0 0 0 0 0 1 -MONDO:0021162 "carotenemia" 0 5 0 0 0 1 +MONDO:0021162 "carotenemia" 0 4 0 0 0 1 http://identifiers.org/hgnc/2205 "CERT1" 0 0 0 0 0 0 CL:0000847 "ciliated olfactory receptor neuron" 1 0 0 0 0 1 http://identifiers.org/hgnc/4198 "GCM2" 0 0 0 0 0 0 @@ -39753,7 +39764,7 @@ GO:0098642 "network-forming collagen trimer" 1 0 0 0 0 1 MONDO:0009869 "isolated Pierre-Robin syndrome" 1 8 0 0 0 0 HP:0004339 "Abnormal circulating sulfur amino acid concentration" 1 1 0 0 0 0 MONDO:0000894 "mucinous bronchioloalveolar adenocarcinoma" 1 1 0 0 0 1 -MONDO:0004612 "malignant histiocytosis" 1 11 0 0 0 0 +MONDO:0004612 "malignant histiocytosis" 1 9 0 0 0 0 CL:0002036 "Slamf1-positive multipotent progenitor cell" 1 0 0 0 0 0 MONDO:0018807 "idiopathic ductopenia" 0 2 0 0 0 0 MONDO:0019221 "obsolete creatine deficiency syndrome" 0 0 0 0 0 0 @@ -39767,7 +39778,7 @@ NCBITaxon:2759 "Eukaryota" 0 3 0 0 0 0 NCBITaxon:53467 "Mesocestoides" 0 1 0 0 0 0 MONDO:0004940 "acute female pelvic peritonitis" 0 5 0 0 0 0 http://identifiers.org/hgnc/13187 "ZP1" 0 0 0 0 0 0 -MONDO:0004579 "retinoschisis" 1 7 0 0 0 0 +MONDO:0004579 "retinoschisis" 1 6 0 0 0 0 http://identifiers.org/hgnc/11602 "TBX3" 0 0 0 0 0 0 MONDO:0020299 "obsolete spinocerebellar ataxia type 15/16" 0 0 0 0 0 0 CL:0000638 "acidophil cell of pars distalis of adenohypophysis" 1 1 0 0 0 0 @@ -39803,7 +39814,7 @@ CL:0002062 "type I pneumocyte" 1 2 0 0 0 1 MONDO:0022405 "retinal ciliopathy due to mutation in nephronophthisis gene" 0 1 0 0 0 0 UBERON:5003635 "pedal digit 5 plus metapodial segment" 0 0 0 0 0 1 UBERON:0004066 "frontonasal prominence" 0 0 0 0 0 0 -MONDO:0019624 "acquired angioedema" 1 6 0 0 0 1 +MONDO:0019624 "acquired angioedema" 1 5 0 0 0 1 MONDO:0012017 "Parkes Weber syndrome" 1 9 0 0 0 0 CL:0002352 "gestational hematopoietic stem cell" 1 0 0 0 0 1 MONDO:0004406 "adult central nervous system mixed germ cell tumor" 1 3 0 0 0 1 @@ -39818,7 +39829,7 @@ CHR:9606-chr1p35 "1p35 (Human)" 0 0 0 0 0 0 MONDO:0001002 "obsolete pulmonary siderosis" 0 0 0 0 0 0 http://identifiers.org/hgnc/11595 "TBX18" 0 0 0 0 0 0 UBERON:0004779 "respiratory system lamina propria" 0 0 0 0 0 1 -MONDO:0005557 "calcium metabolic disease" 1 14 0 0 0 1 +MONDO:0005557 "calcium metabolic disease" 1 8 0 0 0 1 MONDO:0016699 "myxopapillary ependymoma" 1 9 0 0 0 0 MONDO:0017064 "thoracolumbosacral spina bifida aperta" 0 2 0 0 0 0 GO:0052547 "regulation of peptidase activity" 1 0 0 0 0 1 @@ -39826,10 +39837,11 @@ MONDO:0009310 "granulomatous disease, chronic, autosomal recessive, cytochrome b MONDO:0020047 "autosomal recessive syndromic cerebellar ataxia" 0 2 0 0 0 0 MONDO:0002937 "nodular basal cell carcinoma" 1 4 0 0 0 0 NCBITaxon:5579 "Aureobasidium" 0 1 0 0 0 0 -MONDO:0009303 "anti-glomerular basement membrane disease" 1 14 0 0 0 0 +MONDO:0009303 "anti-glomerular basement membrane disease" 1 13 0 0 0 0 UBERON:0006075 "sacral region of vertebral column" 0 0 0 0 0 1 UBERON:0011677 "trunk vertebra" 0 0 0 0 0 1 MONDO:0002956 "skin cystic basal cell carcinoma" 0 4 0 0 0 0 +MONDO:0020054 "obsolete partial autosomal monosomy" 0 4 0 0 0 0 MONDO:0016674 "46,XY partial gonadal dysgenesis" 1 11 0 0 0 0 MONDO:0014087 "Smith-McCort dysplasia 2" 1 3 0 0 0 1 NCBITaxon:2560074 "Mammantavirinae" 0 1 0 0 0 0 @@ -39852,19 +39864,20 @@ HP:0000163 "Abnormal oral cavity morphology" 1 1 0 0 0 0 CL:0011027 "skeletal muscle fibroblast" 1 0 0 0 0 1 MONDO:0002765 "plantar verrucous skin carcinoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/6106 "FOXP3" 0 0 0 0 0 0 -MONDO:0003482 "Pediculus humanus corporis infestation" 1 5 0 0 0 1 +MONDO:0003482 "Pediculus humanus corporis infestation" 1 4 0 0 0 1 HP:0003581 "Adult onset" 1 1 0 0 0 0 MONDO:0017190 "sporadic pheochromocytoma/secreting paraganglioma" 1 5 0 0 0 0 MONDO:0025708 "megacystis-microcolon-intestinal hypoperistalsis syndrome 2" 0 1 0 0 0 0 MONDO:0019114 "psychogenic movement disorders" 1 4 0 0 0 0 MONDO:0017535 "central polydactyly of fingers, unilateral" 0 2 0 0 0 0 UBERON:0003233 "epithelium of shoulder" 0 0 0 0 0 1 -MONDO:0001307 "corneal abscess" 1 6 0 0 0 0 +MONDO:0001307 "corneal abscess" 1 5 0 0 0 0 MONDO:0020603 "X-linked chondrodysplasia punctata 2" 1 4 0 0 0 1 GO:1904950 "negative regulation of establishment of protein localization" 1 0 0 0 0 1 http://identifiers.org/hgnc/11551 "BRF1" 0 0 0 0 0 0 GO:0032270 "positive regulation of cellular protein metabolic process" 1 0 0 0 0 1 -MONDO:0005845 "meningoencephalitis" 1 8 0 0 0 1 +MONDO:0005845 "meningoencephalitis" 1 6 0 0 0 1 +MONDO:0014253 "obsolete autoimmune lymphoproliferative syndrome type 3" 1 1 0 0 0 0 UBERON:0016887 "entire extraembryonic component" 0 0 0 0 0 0 MONDO:0011059 "holoprosencephaly-craniosynostosis syndrome" 1 7 0 0 0 0 MONDO:0004255 "Wolffian adnexal tumor" 1 5 0 0 0 1 @@ -39879,7 +39892,7 @@ MONDO:0021122 "obsolete small cell neuroendocrine carcinoma" 0 0 0 0 0 0 UBERON:0000423 "eccrine sweat gland" 0 0 0 0 0 0 HsapDv:0000001 "human life cycle" 1 0 0 0 0 0 UBERON:0007005 "cardiogenic splanchnic mesoderm" 0 0 0 0 0 0 -MONDO:0005044 "hypertensive disorder" 1 13 0 0 0 0 +MONDO:0005044 "hypertensive disorder" 1 12 0 0 0 0 http://identifiers.org/hgnc/9117 "PMP2" 0 0 0 0 0 0 MONDO:0021979 "Basaran Yilmaz syndrome" 1 3 0 0 0 0 MONDO:0021849 "alopecia macular degeneration growth retardation syndrome" 0 2 0 0 0 0 @@ -39890,14 +39903,14 @@ http://identifiers.org/hgnc/18514 "SPART" 0 0 0 0 0 0 http://identifiers.org/hgnc/1077 "BMPR1B" 0 0 0 0 0 0 CHEBI:41609 "carbonate" 0 0 0 0 0 0 http://identifiers.org/hgnc/18662 "RAX" 0 0 0 0 0 0 -MONDO:0000709 "Crohn ileitis" 1 10 0 0 0 1 +MONDO:0000709 "Crohn ileitis" 1 9 0 0 0 1 MONDO:0018575 "microcephalic primordial dwarfism-insulin resistance syndrome" 0 5 0 0 0 0 MONDO:0010420 "X-linked erythropoietic protoporphyria" 1 6 0 0 0 1 UBERON:0003707 "sinus of Valsalva" 0 0 0 0 0 0 ENVO:09000007 "concentration of carbon atom in environmental material" 1 0 0 0 0 1 MONDO:0020412 "congenital patent ductus arteriosus aneurysm" 1 3 0 0 0 0 http://identifiers.org/hgnc/11603 "TBX4" 0 0 0 0 0 0 -MONDO:0001528 "vulva cancer" 1 9 0 0 0 1 +MONDO:0001528 "vulva cancer" 1 7 0 0 0 1 MONDO:0032795 "intellectual developmental disorder 59" 0 1 0 0 0 0 MONDO:0017324 "autosomal recessive hypophosphatemic rickets" 1 7 0 0 0 1 MONDO:0018467 "nephropathic infantile cystinosis" 1 6 0 0 0 1 @@ -39931,39 +39944,38 @@ UBERON:0001215 "inferior mesenteric vein" 0 0 0 0 0 1 MONDO:0044283 "obsolete body mass index quantitative trait locus 18" 0 1 0 0 0 0 MONDO:0003153 "adult brainstem glioma" 1 3 0 0 0 1 http://identifiers.org/hgnc/4416 "GNPAT" 0 0 0 0 0 0 -MONDO:0004880 "bowel dysfunction" 1 5 0 0 0 1 +MONDO:0004880 "bowel dysfunction" 1 4 0 0 0 1 UBERON:0003527 "kidney capillary" 0 0 0 0 0 1 http://identifiers.org/hgnc/11604 "TBX5" 0 0 0 0 0 0 UBERON:0006211 "buccopharyngeal membrane" 0 0 0 0 0 0 NCBITaxon:11084 "Tick-borne encephalitis virus" 0 1 0 0 0 0 http://identifiers.org/hgnc/2396 "CRYBA4" 0 0 0 0 0 0 -MONDO:0013612 "Geleophysic dysplasia 2" 1 4 0 0 0 1 HP:0002150 "Hypercalciuria" 0 3 0 0 0 0 http://identifiers.org/hgnc/13176 "IKZF1" 0 0 0 0 0 0 -MONDO:0013770 "atrial septal defect 9" 1 5 0 0 0 1 +MONDO:0013770 "atrial septal defect 9" 1 4 0 0 0 1 UBERON:0004709 "pelvic appendage" 0 0 0 0 0 1 CHEBI:37326 "benzo[g]pteridine-2,4-dione" 0 0 0 0 0 0 GO:0100032 "obsolete positive regulation of phospholipid biosynthetic process by transcription from RNA polymerase II promoter" 1 0 0 0 0 0 MONDO:0007629 "fragile site 10Q23" 0 2 0 0 0 0 MONDO:0021368 "neoplasm of major salivary gland" 1 3 0 0 0 1 -MONDO:0014440 "Bardet-Biedl syndrome 12" 1 7 0 0 0 1 -MONDO:0014441 "Bardet-Biedl syndrome 13" 1 6 0 0 0 1 -MONDO:0014442 "Bardet-Biedl syndrome 14" 1 6 0 0 0 1 -MONDO:0014443 "Bardet-Biedl syndrome 15" 1 5 0 0 0 1 +MONDO:0014440 "Bardet-Biedl syndrome 12" 1 6 0 0 0 1 +MONDO:0014441 "Bardet-Biedl syndrome 13" 1 5 0 0 0 1 +MONDO:0014442 "Bardet-Biedl syndrome 14" 1 5 0 0 0 1 +MONDO:0014443 "Bardet-Biedl syndrome 15" 1 4 0 0 0 1 UBERON:0001423 "radius bone" 0 0 0 0 0 1 GO:2001223 "negative regulation of neuron migration" 1 0 0 0 0 1 MONDO:0004516 "bulbomembranous urethral cancer" 0 3 0 0 0 0 -MONDO:0011189 "arrhythmogenic right ventricular dysplasia 4" 1 6 0 0 0 0 +MONDO:0011189 "arrhythmogenic right ventricular dysplasia 4" 1 5 0 0 0 0 MONDO:0017808 "duplication of the pituitary gland" 0 3 0 0 0 0 MONDO:0004997 "chondroblastoma" 1 9 0 0 0 0 CHEBI:35346 "11beta-hydroxy steroid" 1 0 0 0 0 0 CL:1000327 "appendix goblet cell" 1 1 0 0 0 1 -MONDO:0014444 "Bardet-Biedl syndrome 16" 1 5 0 0 0 1 -MONDO:0014445 "Bardet-Biedl syndrome 17" 1 4 0 0 0 1 -MONDO:0014446 "Bardet-Biedl syndrome 18" 1 4 0 0 0 1 -MONDO:0014447 "Bardet-Biedl syndrome 19" 1 4 0 0 0 1 +MONDO:0014444 "Bardet-Biedl syndrome 16" 1 4 0 0 0 1 +MONDO:0014445 "Bardet-Biedl syndrome 17" 1 3 0 0 0 1 +MONDO:0014446 "Bardet-Biedl syndrome 18" 1 3 0 0 0 1 +MONDO:0014447 "Bardet-Biedl syndrome 19" 1 3 0 0 0 1 http://identifiers.org/hgnc/21176 "RMND1" 0 0 0 0 0 0 -MONDO:0011188 "arrhythmogenic right ventricular dysplasia 3" 1 6 0 0 0 0 +MONDO:0011188 "arrhythmogenic right ventricular dysplasia 3" 1 5 0 0 0 0 UBERON:0019190 "mucous gland of lung" 0 0 0 0 0 1 HP:0010988 "Abnormality of the extrinsic pathway" 1 1 0 0 0 0 MONDO:8000011 "visceral neuropathy, familial, 1, autosomal recessive" 1 7 0 0 0 0 @@ -39974,14 +39986,13 @@ MONDO:0015833 "pseudounicornuate uterus" 1 2 0 0 0 0 UBERON:0009680 "set of upper jaw teeth" 0 0 0 0 0 1 MONDO:0008989 "citrulline transport defect" 0 4 0 0 0 0 MONDO:0030077 "vertebral, cardiac, renal, and limb defects syndrome 3" 0 1 0 0 0 0 -MONDO:0008068 "navicular bone, accessory" 0 3 0 0 0 0 -MONDO:0001252 "Plummer disease" 1 8 0 0 0 0 +MONDO:0001252 "Plummer disease" 1 7 0 0 0 0 MONDO:0011457 "ataxia-telangiectasia-like disorder" 1 10 0 0 0 0 MONDO:0003961 "obsolete cervical large cell neuroendocrine carcinoma" 0 0 0 0 0 0 http://identifiers.org/hgnc/11605 "TBX6" 0 0 0 0 0 0 MONDO:0044227 "obsolete dimples, facial" 0 1 0 0 0 0 NCBITaxon:570 "Klebsiella" 0 4 0 0 0 0 -MONDO:0014819 "autosomal dominant Robinow syndrome 3" 1 6 0 0 0 1 +MONDO:0014819 "autosomal dominant Robinow syndrome 3" 1 5 0 0 0 1 NCBITaxon:123367 "Ctenosquamata" 0 1 0 0 0 0 MONDO:0015626 "Charcot-Marie-Tooth disease" 1 10 0 0 0 0 CL:0000586 "germ cell" 1 3 0 0 0 0 @@ -39992,7 +40003,7 @@ MONDO:0001234 "adhesive otitis media" 1 6 0 0 0 0 GO:0019230 "proprioception" 1 0 0 0 0 0 GO:0030182 "neuron differentiation" 1 0 0 0 0 0 GO:0034255 "regulation of urea metabolic process" 1 0 0 0 0 1 -MONDO:0015454 "multiple carboxylase deficiency" 1 9 0 0 0 0 +MONDO:0015454 "multiple carboxylase deficiency" 1 8 0 0 0 0 MONDO:0007180 "Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities" 0 4 0 0 0 0 MONDO:0025417 "fowlpox" 1 1 0 0 0 0 http://identifiers.org/hgnc/16650 "MRPL44" 0 0 0 0 0 0 @@ -40004,7 +40015,7 @@ MONDO:0001190 "Brucella suis brucellosis" 1 1 0 0 0 1 GO:1903708 "positive regulation of hemopoiesis" 1 0 0 0 0 1 MONDO:0018491 "3-phosphoglycerate dehydrogenase deficiency" 0 4 0 0 0 0 GO:0008144 "drug binding" 1 0 0 0 0 0 -MONDO:0007520 "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1" 1 6 0 0 0 0 +MONDO:0007520 "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1" 1 5 0 0 0 0 MONDO:0019534 "mixed-type autoimmune hemolytic anemia" 1 4 0 0 0 0 MONDO:0016855 "Mowat-Wilson syndrome due to monosomy 2q22" 0 3 0 0 0 0 MONDO:0007613 "obsolete fibromuscular dysplasia of arteries" 0 0 0 0 0 0 @@ -40014,7 +40025,7 @@ MONDO:0006302 "micropapillary serous carcinoma" 1 2 0 0 0 0 MONDO:0009576 "megalocornea" 0 8 0 0 0 0 CL:1000718 "kidney inner medulla collecting duct principal cell" 0 1 0 0 0 1 MONDO:0006237 "granulocytic sarcoma" 1 2 0 0 0 0 -MONDO:0006664 "atrial septal defect" 1 20 0 0 0 0 +MONDO:0006664 "atrial septal defect" 1 19 0 0 0 0 MONDO:0100349 "COACH syndrome" 1 4 0 0 0 0 GO:0005740 "mitochondrial envelope" 1 0 0 0 0 0 GO:1905653 "positive regulation of artery morphogenesis" 1 0 0 0 0 1 @@ -40022,20 +40033,20 @@ MONDO:0003119 "obsolete histiocytoid hemangioma" 0 0 0 0 0 0 UBERON:0003523 "manus blood vessel" 0 0 0 0 0 1 MONDO:0003147 "space motion sickness" 1 4 0 0 0 0 UBERON:0002408 "parietal serous pericardium" 0 0 0 0 0 1 -MONDO:0019952 "congenital myopathy" 0 7 0 0 0 0 +MONDO:0019952 "congenital myopathy" 0 6 0 0 0 0 GO:0008217 "regulation of blood pressure" 1 0 0 0 0 0 MONDO:0017122 "obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature" 0 2 0 0 0 0 MONDO:0000630 "immune system organ benign neoplasm" 1 1 0 0 0 1 http://identifiers.org/hgnc/3395 "EPHB4" 0 0 0 0 0 0 MONDO:0007545 "Eosinophilopenia" 0 2 0 0 0 0 MONDO:0005320 "tibia fracture" 1 4 0 0 0 1 -MONDO:0002246 "perichondritis of auricle" 1 8 0 0 0 0 +MONDO:0002246 "perichondritis of auricle" 1 5 0 0 0 0 http://identifiers.org/hgnc/3393 "EPHB2" 0 0 0 0 0 0 http://identifiers.org/hgnc/17341 "TRNT1" 0 0 0 0 0 0 UBERON:0004696 "venous system smooth muscle" 0 0 0 0 0 1 MONDO:0005478 "torsades de pointes" 1 5 0 0 0 0 MONDO:0030864 "Ritscher-Schinzel syndrome 3" 0 1 0 0 0 0 -MONDO:0007576 "esophageal cancer" 1 21 0 0 0 1 +MONDO:0007576 "esophageal cancer" 1 18 0 0 0 1 MONDO:0008135 "optic atrophy 13 with retinal and foveal abnormalities" 0 3 0 0 0 0 GO:2000846 "regulation of corticosteroid hormone secretion" 1 0 0 0 0 1 MONDO:0005424 "elephantiasis" 1 5 0 0 0 0 @@ -40048,7 +40059,7 @@ GO:1901652 "response to peptide" 1 0 0 0 0 0 CHEBI:33833 "heteroarene" 1 0 0 0 0 0 MONDO:0003237 "adenomyoma of uterine corpus" 1 3 0 0 0 1 http://identifiers.org/hgnc/1122 "BTD" 0 0 0 0 0 0 -MONDO:0043519 "burn" 1 4 0 0 0 0 +MONDO:0043519 "burn" 1 7 0 0 0 0 UBERON:0001824 "mucosa of larynx" 0 0 0 0 0 1 UBERON:0007223 "osseus cochlea" 0 0 0 0 0 0 MONDO:0008167 "dermoid cyst of ovary" 1 6 0 0 0 1 @@ -40072,13 +40083,13 @@ MONDO:0012567 "autism, susceptibility to, 12" 0 1 0 0 0 0 UBERON:0007197 "hermaphroditic organism" 0 0 0 0 0 0 MONDO:0037938 "inborn disorder of aspartate family metabolism" 1 0 0 0 0 1 ENVO:01001310 "liquid surface layer"@en 1 0 0 0 0 1 -MONDO:0008680 "Wilms tumor 2" 0 4 0 0 0 0 +MONDO:0008680 "Wilms tumor 2" 0 5 0 0 0 0 MONDO:0012539 "Joubert syndrome 6" 1 5 0 0 0 1 http://identifiers.org/hgnc/9642 "PTPN1" 0 0 0 0 0 0 MONDO:0020509 "secondary syringomyelia" 1 2 0 0 0 0 MONDO:0100337 "SEC61A1 deficiency" 1 0 0 0 0 1 MONDO:0001471 "histoplasmosis meningitis" 1 2 0 0 0 1 -MONDO:0009894 "short-rib thoracic dysplasia 6 with or without polydactyly" 1 5 0 0 0 0 +MONDO:0009894 "short-rib thoracic dysplasia 6 with or without polydactyly" 1 4 0 0 0 0 MONDO:0006185 "ductal or ductular proliferation" 1 2 0 0 0 0 MONDO:0000070 "mycobacterium tuberculosis, susceptibility" 0 0 0 0 0 1 http://identifiers.org/hgnc/17772 "TXN2" 0 0 0 0 0 0 @@ -40097,7 +40108,7 @@ MONDO:0008835 "asthma, short stature, and elevated IgA" 0 3 0 0 0 0 CHEBI:49475 "argon atom" 0 0 0 0 0 0 MONDO:0003281 "ovarian cystic teratoma" 1 3 0 0 0 1 MONDO:0054722 "geleophysic dysplasia 3" 0 2 0 0 0 0 -MONDO:0017437 "amelia of upper limb" 1 4 0 0 0 1 +MONDO:0017437 "amelia of upper limb" 1 3 0 0 0 1 MONDO:0005124 "leprosy" 1 27 0 0 0 1 MONDO:0009557 "mandibuloacral dysplasia with type A lipodystrophy" 1 10 0 0 0 0 MONDO:0007856 "palmoplantar keratoderma-esophageal carcinoma syndrome" 1 6 0 0 0 0 @@ -40130,7 +40141,7 @@ GO:0050957 "equilibrioception" 1 0 0 0 0 0 MONDO:0015353 "neuronopathy, distal hereditary motor, type 5A" 0 5 0 0 0 1 http://identifiers.org/hgnc/600 "APOA1" 0 0 0 0 0 0 MONDO:0000837 "bone resorption disease" 1 2 0 0 0 1 -MONDO:0004811 "simple chronic conjunctivitis" 0 5 0 0 0 0 +MONDO:0004811 "simple chronic conjunctivitis" 0 4 0 0 0 0 MONDO:0030484 "immunodeficiency 89 and autoimmunity" 0 1 0 0 0 0 GO:1902653 "secondary alcohol biosynthetic process" 1 0 0 0 0 0 http://identifiers.org/hgnc/10050 "RNASEL" 0 0 0 0 0 0 @@ -40177,9 +40188,9 @@ MONDO:0013570 "combined oxidative phosphorylation defect type 8" 1 7 0 0 0 1 CHEBI:76414 "propellant" 1 0 0 0 0 0 MONDO:0013681 "alpha-methylacyl-CoA racemase deficiency" 1 8 0 0 0 0 MONDO:0013076 "attention deficit-hyperactivity disorder, susceptibility to, 7" 0 1 0 0 0 1 -MONDO:0011262 "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye" 1 7 0 0 0 0 +MONDO:0011262 "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye" 1 6 0 0 0 0 MONDO:0004355 "childhood leukemia" 1 3 0 0 0 1 -MONDO:0001586 "mucopolysaccharidosis type 1" 1 10 0 0 0 0 +MONDO:0001586 "mucopolysaccharidosis type 1" 1 9 0 0 0 0 ENVO:00000339 "piece of rock" 1 0 0 0 0 1 http://identifiers.org/hgnc/1919 "CHD4" 0 0 0 0 0 0 GO:0030854 "positive regulation of granulocyte differentiation" 1 0 0 0 0 1 @@ -40207,8 +40218,8 @@ GO:0072369 "obsolete regulation of lipid transport by positive regulation of tra CHR:9606-chr11 "chromosome 11 (Human)" 0 0 0 0 0 0 MONDO:0016715 "ependymoblastoma" 1 10 0 0 0 0 MONDO:0018947 "centronuclear myopathy" 1 14 0 0 0 0 -MONDO:0001064 "acute eustachian salpingitis" 1 6 0 0 0 1 -MONDO:0002350 "familial nephrotic syndrome" 1 7 0 0 0 1 +MONDO:0001064 "acute eustachian salpingitis" 1 4 0 0 0 1 +MONDO:0002350 "familial nephrotic syndrome" 1 6 0 0 0 1 MONDO:0015766 "cholera" 1 14 0 0 0 1 NCBITaxon:121224 "Pediculus humanus corporis" 0 3 0 0 0 0 GO:0030003 "cellular cation homeostasis" 1 0 0 0 0 0 @@ -40245,14 +40256,14 @@ MONDO:0030492 "spermatogenic failure 59" 0 1 0 0 0 0 MONDO:0016510 "epibulbar lipodermoid-preauricular appendage-polythelia syndrome" 1 2 0 0 0 0 ENVO:01001012 "lithometeor"@en 1 0 0 0 0 1 NCBITaxon:3745 "Rosaceae" 0 1 0 0 0 0 -MONDO:0018380 "idiopathic avascular necrosis" 0 2 0 0 0 0 +MONDO:0018380 "idiopathic avascular necrosis" 0 1 0 0 0 0 HP:0031797 "Clinical course" 1 0 0 0 0 0 UBERON:0007159 "lumen of colon" 0 0 0 0 0 1 http://identifiers.org/hgnc/4226 "GDI1" 0 0 0 0 0 0 http://identifiers.org/hgnc/20492 "COA8" 0 0 0 0 0 0 MONDO:0016010 "vitamin K-antagonist embryofetopathy" 1 9 0 0 0 0 UBERON:0011185 "gastrointestinal sphincter" 0 0 0 0 0 1 -MONDO:0003249 "pineal gland cancer" 1 8 0 0 0 1 +MONDO:0003249 "pineal gland cancer" 1 7 0 0 0 1 MONDO:0017693 "obsolete glycogen storage disease due to glycogen synthase deficiency" 0 3 0 0 0 0 http://identifiers.org/hgnc/9884 "RB1" 0 0 0 0 0 0 MONDO:0002774 "obsolete chordoid glioma" 0 0 0 0 0 0 @@ -40263,7 +40274,7 @@ CHEBI:64911 "antimitotic" 1 0 0 0 0 0 MONDO:0011325 "Fanconi anemia complementation group F" 1 4 0 0 0 0 MONDO:0004393 "mixed astrocytoma-ependymoma" 1 3 0 0 0 0 MONDO:0000981 "Histoplasma pericarditis" 1 4 0 0 0 1 -MONDO:0008586 "esophageal atresia/tracheoesophageal fistula" 1 10 0 0 0 0 +MONDO:0008586 "esophageal atresia/tracheoesophageal fistula" 1 8 0 0 0 0 UBERON:0006567 "right ventricle myocardium" 0 0 0 0 0 1 GO:2001233 "regulation of apoptotic signaling pathway" 1 0 0 0 0 1 MONDO:0030074 "spondylometaphyseal dysplasia with corneal dystrophy" 0 1 0 0 0 0 @@ -40275,17 +40286,17 @@ MONDO:0021099 "intraductal papillomatosis" 1 3 0 0 0 1 HP:0001510 "Growth delay" 1 8 0 0 0 0 MONDO:0005390 "obsolete cardiac arrhythmia" 0 0 0 0 0 0 MONDO:0019891 "monosomy 22" 0 4 0 0 0 1 -MONDO:0019360 "rickettsialpox" 0 7 0 0 0 1 +MONDO:0019360 "rickettsialpox" 0 6 0 0 0 1 GO:0048880 "sensory system development" 1 0 0 0 0 0 MONDO:0004527 "congenital granular cell tumor" 1 1 0 0 0 1 MONDO:0003927 "posterior uveal melanoma" 0 5 0 0 0 0 GO:1903018 "regulation of glycoprotein metabolic process" 1 0 0 0 0 1 CL:0000351 "trophoblast cell" 1 1 0 0 0 0 -MONDO:0005372 "male infertility" 1 9 0 0 0 1 +MONDO:0005372 "male infertility" 1 8 0 0 0 1 MONDO:0010075 "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures" 1 3 0 0 0 1 CHR:9606-chr2q37 "2q37 (Human)" 0 0 0 0 0 0 http://identifiers.org/hgnc/1917 "CHD2" 0 0 0 0 0 0 -MONDO:0001336 "familial hyperlipidemia" 1 3 0 0 0 1 +MONDO:0001336 "familial hyperlipidemia" 1 2 0 0 0 1 UBERON:0034876 "future neurohypophysis" 0 0 0 0 0 1 MONDO:0030534 "hypogonadotropic hypogonadism 26 with or without anosmia" 0 1 0 0 0 0 MONDO:0007871 "familial congenital nasolacrimal duct obstruction" 0 5 0 0 0 0 @@ -40310,13 +40321,13 @@ MONDO:0007512 "ectodermal dysplasia syndrome with distinctive facial appearance MONDO:0009665 "biotinidase deficiency" 1 13 0 0 0 1 UBERON:0008836 "liver bud" 0 0 0 0 0 0 MONDO:0005334 "hereditary nephritis" 1 3 0 0 0 1 -MONDO:0100086 "perinatal disease" 1 0 0 0 0 0 +MONDO:0100086 "perinatal disease" 1 6 0 0 0 0 MONDO:0016462 "isolated agammaglobulinemia" 1 12 0 0 0 1 MONDO:0013692 "BAP1-related tumor predisposition syndrome" 1 5 0 0 0 0 MONDO:0013742 "familial mesial temporal lobe epilepsy with febrile seizures" 0 2 0 0 0 0 NCBITaxon:33630 "Alveolata" 0 1 0 0 0 0 UBERON:0016888 "transitional anatomical structure" 0 0 0 0 0 0 -MONDO:0002137 "noninfectious dermatoses of eyelid" 0 5 0 0 0 0 +MONDO:0002137 "noninfectious dermatoses of eyelid" 0 4 0 0 0 0 MONDO:0015931 "obsolete rare urogenital tumor" 0 2 0 0 0 0 MONDO:0019774 "Holmes-Gang syndrome" 1 4 0 0 0 0 ENVO:01000281 "layer" 1 0 0 0 0 0 @@ -40333,7 +40344,7 @@ http://identifiers.org/hgnc/17797 "MAP3K20" 0 0 0 0 0 0 http://identifiers.org/hgnc/25455 "TSR2" 0 0 0 0 0 0 CL:0009024 "mesothelial cell of small intestine" 1 0 0 0 0 1 HP:0001098 "Abnormal fundus morphology" 1 1 0 0 0 0 -MONDO:0002041 "fungal infectious disease" 1 9 0 0 0 1 +MONDO:0002041 "fungal infectious disease" 1 7 0 0 0 1 GO:0050709 "negative regulation of protein secretion" 1 0 0 0 0 1 MONDO:0012354 "platelet-type bleeding disorder 8" 1 8 0 0 0 0 MONDO:0009423 "hypokalemic alkalosis, familial, with specific renal tubulopathy" 0 4 0 0 0 0 @@ -40366,9 +40377,9 @@ MONDO:0015478 "paramedian facial cleft" 0 2 0 0 0 0 MONDO:0011746 "symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch" 0 4 0 0 0 0 NCBITaxon:34384 "Arthrodermataceae" 0 1 0 0 0 0 MONDO:0012815 "Coats plus syndrome" 1 9 0 0 0 0 -MONDO:0014603 "autosomal dominant nonsyndromic hearing loss 40" 1 4 0 0 0 1 +MONDO:0014603 "autosomal dominant nonsyndromic hearing loss 40" 1 3 0 0 0 1 MONDO:0009934 "alveolar capillary dysplasia with misalignment of pulmonary veins" 1 14 0 0 0 0 -MONDO:0004660 "lung carcinoma in situ" 1 6 0 0 0 1 +MONDO:0004660 "lung carcinoma in situ" 1 5 0 0 0 1 HP:0012649 "Increased inflammatory response" 1 1 0 0 0 0 MONDO:0002117 "pancreas sarcoma" 1 3 0 0 0 1 CL:0002552 "fibroblast of gingiva" 0 0 0 0 0 1 @@ -40377,14 +40388,14 @@ GO:1903942 "positive regulation of respiratory gaseous exchange" 1 0 0 0 0 1 MONDO:0014125 "symphalangism, proximal, 1B" 1 3 0 0 0 1 GO:0016505 "peptidase activator activity involved in apoptotic process" 1 0 0 0 0 1 MONDO:0007404 "Cri-du-chat syndrome" 1 13 0 0 0 0 -MONDO:0001941 "blindness (disorder)" 1 6 0 0 0 1 +MONDO:0001941 "blindness (disorder)" 1 7 0 0 0 1 MONDO:0001948 "obsolete Riedel's fibrosing thyroiditis" 0 0 0 0 0 0 MONDO:0002340 "tactile epilepsy" 0 4 0 0 0 0 UBERON:0000031 "lamina propria of trachea" 0 0 0 0 0 1 MONDO:0022746 "chromosome 13p duplication" 0 2 0 0 0 1 MONDO:0000825 "obsolete hypomyelinating leukodystrophy" 0 0 0 0 0 0 MONDO:0015829 "non-syndromic uterovaginal malformation" 1 1 0 0 0 1 -MONDO:0014439 "Bardet-Biedl syndrome 11" 1 6 0 0 0 1 +MONDO:0014439 "Bardet-Biedl syndrome 11" 1 5 0 0 0 1 MONDO:0019413 "ischio-vertebral syndrome" 1 5 0 0 0 0 UBERON:0035465 "endometrial cavity" 0 0 0 0 0 1 GO:0009179 "purine ribonucleoside diphosphate metabolic process" 1 0 0 0 0 0 @@ -40422,7 +40433,7 @@ CHEBI:33434 "elemental halogen" 0 0 0 0 0 0 http://identifiers.org/hgnc/18119 "SPATA5" 0 0 0 0 0 0 MONDO:0003508 "choriocarcinoma of testis" 1 5 0 0 0 1 MONDO:0037792 "carbohydrate metabolism disease" 1 1 0 0 0 1 -MONDO:0008900 "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia" 1 5 0 0 0 0 +MONDO:0008900 "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia" 1 4 0 0 0 0 MONDO:0012647 "obsolete generalized epilepsy with febrile seizures plus, type 3" 0 0 0 0 0 0 MONDO:0001720 "gonococcal synovitis" 1 5 0 0 0 1 NCBITaxon:5796 "Coccidia" 0 1 0 0 0 0 @@ -40449,28 +40460,28 @@ MONDO:0015717 "mild hemophilia B" 1 3 0 0 0 0 MONDO:0005869 "obsolete myiasis" 0 0 0 0 0 0 MONDO:0019602 "obsolete other inborn metabolic disease" 0 2 0 0 0 0 MONDO:0018920 "peripartum cardiomyopathy" 1 10 0 0 0 0 -MONDO:0012395 "cataract 18" 1 7 0 0 0 1 +MONDO:0012395 "cataract 18" 1 6 0 0 0 1 MONDO:0001558 "Potter sequence" 1 6 0 0 0 0 -MONDO:0016426 "fusariosis" 1 7 0 0 0 1 +MONDO:0016426 "fusariosis" 1 6 0 0 0 1 MONDO:0009186 "epilepsy, photogenic, with spastic diplegia and intellectual disability" 0 3 0 0 0 0 MONDO:0013523 "Nestor-Guillermo progeria syndrome" 0 5 0 0 0 0 UBERON:0013631 "sesamoid element" 0 0 0 0 0 0 MONDO:0012685 "major affective disorder 5" 0 2 0 0 0 0 -MONDO:0019544 "cocaine intoxication" 0 4 0 0 0 1 +MONDO:0019544 "cocaine intoxication" 0 3 0 0 0 1 MONDO:0015673 "obsolete rare cardiac tumor" 1 1 0 0 0 0 MONDO:0006569 "leg dermatosis" 1 4 0 0 0 0 MONDO:0044202 "episodic kinesigenic dyskinesia" 1 2 0 0 0 0 MONDO:0016482 "silver-Russell syndrome due to maternal uniparental disomy of chromosome 11" 0 3 0 0 0 0 CL:1000398 "endothelial cell of hepatic sinusoid" 1 2 0 0 0 1 -MONDO:0020595 "disorder of retroperitoneum" 1 2 0 0 0 1 +MONDO:0020595 "disorder of retroperitoneum" 1 3 0 0 0 1 MONDO:0018237 "acrofacial dysostosis" 0 4 0 0 0 0 MONDO:0009378 "hyper-beta-alaninemia" 1 8 0 0 0 0 MONDO:0017549 "humero-radio-ulnar synostosis, bilateral" 0 2 0 0 0 0 -MONDO:0007527 "Ehlers-Danlos syndrome, periodontitis type" 1 6 0 0 0 0 +MONDO:0007527 "Ehlers-Danlos syndrome, periodontitis type" 1 7 0 0 0 0 MONDO:0017541 "obsolete central polydactyly of toes, unilateral" 0 2 0 0 0 0 MONDO:0015696 "Good syndrome" 1 5 0 0 0 0 MONDO:0003033 "prostate angiosarcoma" 1 3 0 0 0 1 -MONDO:0001332 "palindromic rheumatism" 1 14 0 0 0 0 +MONDO:0001332 "palindromic rheumatism" 1 13 0 0 0 0 GO:2000026 "regulation of multicellular organismal development" 1 0 0 0 0 1 GO:0090139 "mitochondrial DNA packaging" 1 0 0 0 0 1 CL:0000458 "serotonin secreting cell" 1 0 0 0 0 1 @@ -40481,8 +40492,8 @@ MONDO:0019182 "inherited obesity" 0 3 0 0 0 1 NCBITaxon:2092 "Mycoplasmataceae" 0 3 0 0 0 0 http://identifiers.org/hgnc/14579 "VPS45" 0 0 0 0 0 0 MONDO:0002737 "acute sanguinous otitis media" 1 4 0 0 0 0 -MONDO:0002226 "tuberculous oophoritis" 1 6 0 0 0 1 -MONDO:0005933 "pulmonary blastoma" 1 14 0 0 0 1 +MONDO:0002226 "tuberculous oophoritis" 1 5 0 0 0 1 +MONDO:0005933 "pulmonary blastoma" 1 9 0 0 0 1 MONDO:0005603 "pancreatic tubular adenocarcinoma" 1 1 0 0 0 1 MONDO:0030440 "cone-rod dystrophy 22" 0 1 0 0 0 0 MONDO:0010708 "Pallister-W syndrome" 1 7 0 0 0 0 @@ -40522,7 +40533,7 @@ MONDO:0014356 "mitochondrial complex III deficiency nuclear type 7" 1 4 0 0 0 1 MONDO:0006201 "ethmoid sinus adenoid cystic carcinoma" 1 4 0 0 0 1 MONDO:0011468 "hereditary motor and sensory neuropathy, Okinawa type" 1 5 0 0 0 0 GO:0060051 "negative regulation of protein glycosylation" 1 0 0 0 0 1 -MONDO:0019878 "3q26 microduplication syndrome" 1 3 0 0 0 1 +MONDO:0019878 "3q26 microduplication syndrome" 1 2 0 0 0 1 MONDO:0017743 "disorder of O-N-acetylgalactosaminylglycan synthesis" 0 3 0 0 0 0 GO:0031336 "negative regulation of sulfur amino acid metabolic process" 1 0 0 0 0 1 GO:0062012 "regulation of small molecule metabolic process" 1 0 0 0 0 1 @@ -40562,8 +40573,8 @@ NCBITaxon:337687 "Muroidea" 0 3 0 0 0 0 UBERON:0011132 "intercarpal joint" 0 0 0 0 0 1 GO:0051954 "positive regulation of amine transport" 1 0 0 0 0 1 MONDO:0003702 "uterus intravascular leiomyomatosis" 1 2 0 0 0 1 -MONDO:0006742 "endemic goiter" 1 9 0 0 0 1 -MONDO:0014103 "hypogonadotropic hypogonadism 18 with or without anosmia" 1 5 0 0 0 1 +MONDO:0006742 "endemic goiter" 1 7 0 0 0 1 +MONDO:0014103 "hypogonadotropic hypogonadism 18 with or without anosmia" 1 4 0 0 0 1 UBERON:0003577 "knee connective tissue" 0 0 0 0 0 1 MONDO:0013839 "hereditary sensory and autonomic neuropathy type 6" 1 5 0 0 0 1 MONDO:0026771 "developmental and epileptic encephalopathy, 85, with or without midline brain defects" 0 1 0 0 0 1 @@ -40585,7 +40596,7 @@ MONDO:0005582 "binge eating disorder" 1 4 0 0 0 0 MONDO:0011863 "prostate cancer aggressiveness quantitative trait locus on chromosome 19" 0 1 0 0 0 0 GO:0032055 "negative regulation of translation in response to stress" 1 0 0 0 0 1 MONDO:0007837 "Johnson neuroectodermal syndrome" 1 7 0 0 0 0 -MONDO:0018090 "double outlet left ventricle" 1 6 0 0 0 0 +MONDO:0018090 "double outlet left ventricle" 1 5 0 0 0 0 CL:0000696 "PP cell" 1 2 0 0 0 0 NCBITaxon:207598 "Homininae" 0 1 0 0 0 0 UBERON:0001235 "adrenal cortex" 0 0 0 0 0 1 @@ -40598,7 +40609,7 @@ MONDO:0023175 "Fontaine farriaux blanckaert syndrome" 0 1 0 0 0 0 MONDO:0002355 "glottis carcinoma" 1 4 0 0 0 1 http://identifiers.org/hgnc/20297 "SLITRK1" 0 0 0 0 0 0 MONDO:0014985 "Fanconi anemia complementation group V" 1 3 0 0 0 1 -MONDO:0004553 "extrinsic allergic alveolitis" 1 6 0 0 0 1 +MONDO:0004553 "extrinsic allergic alveolitis" 1 5 0 0 0 1 MONDO:0016560 "ptosis-syndactyly-learning difficulties syndrome" 0 2 0 0 0 0 MONDO:0000818 "obsolete lethal congenital contracture syndrome 4" 0 0 0 0 0 0 MONDO:0054743 "polycystic liver disease 3 with or without kidney cysts" 1 2 0 0 0 0 @@ -40609,7 +40620,7 @@ MONDO:0005312 "pouchitis" 1 6 0 0 0 0 MONDO:0010372 "obsolete Clark-Baraitser syndrome" 0 0 0 0 0 0 MONDO:0001808 "chronic subinvolution of uterus" 0 4 0 0 0 0 MONDO:0020097 "obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature" 1 2 0 0 0 0 -MONDO:0016331 "infantile systemic hyalinosis" 1 4 0 0 0 0 +MONDO:0016331 "infantile systemic hyalinosis" 1 5 0 0 0 0 MONDO:0033572 "intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies" 0 1 0 0 0 0 GO:0009206 "purine ribonucleoside triphosphate biosynthetic process" 1 0 0 0 0 0 NCBITaxon:4564 "Triticum" 0 1 0 0 0 0 @@ -40713,7 +40724,7 @@ MONDO:0019102 "dentinogenesis imperfecta-short stature-hearing loss-intellectual MONDO:0011270 "prostate cancer, hereditary, 8" 0 3 0 0 0 0 HsapDv:0000118 "24-year-old human stage" 1 0 0 0 0 0 UBERON:0011592 "future upper lip" 0 0 0 0 0 0 -MONDO:0016136 "obsolete cerebellar ataxia with peripheral neuropathy" 0 2 0 0 0 0 +MONDO:0016136 "obsolete cerebellar ataxia with peripheral neuropathy" 0 1 0 0 0 0 MONDO:0008781 "juvenile amyotrophic lateral sclerosis with dementia" 1 4 0 0 0 0 MONDO:0025385 "bluetongue" 1 2 0 0 0 0 HP:0011849 "Abnormal bone ossification" 1 3 0 0 0 0 @@ -40727,12 +40738,12 @@ http://identifiers.org/hgnc/11598 "TBX20" 0 0 0 0 0 0 MONDO:0019500 "extragonadal teratoma" 1 3 0 0 0 0 HP:0002630 "Fat malabsorption" 1 2 0 0 0 0 MONDO:0017770 "Robinow-like syndrome" 1 5 0 0 0 0 -MONDO:0002265 "stereotypic movement disorder" 1 5 0 0 0 0 +MONDO:0002265 "stereotypic movement disorder" 1 4 0 0 0 0 GO:0009653 "anatomical structure morphogenesis" 1 0 0 0 0 0 MONDO:0037738 "cauda equina cancer" 1 2 0 0 0 1 MONDO:0008392 "Roussy-Levy syndrome" 0 6 0 0 0 0 UBERON:0003549 "brain pia mater" 0 0 0 0 0 1 -MONDO:0012523 "retinitis pigmentosa 36" 1 6 0 0 0 1 +MONDO:0012523 "retinitis pigmentosa 36" 1 5 0 0 0 1 ENVO:01000435 "montane forest" 0 0 0 0 0 1 MONDO:0008292 "punctate palmoplantar keratoderma type 2" 1 7 0 0 0 0 http://identifiers.org/hgnc/11599 "TBX21" 0 0 0 0 0 0 @@ -40740,7 +40751,7 @@ MONDO:0011712 "van der Woude syndrome 2" 1 5 0 0 0 1 MONDO:0011263 "skeletal dysplasia and progressive central nervous system degeneration, lethal" 0 3 0 0 0 0 GO:0009790 "embryo development" 1 0 0 0 0 0 PATO:0002198 "quality of a substance" 1 0 0 0 0 0 -MONDO:0001988 "external pathological resorption" 0 5 0 0 0 0 +MONDO:0001988 "external pathological resorption" 0 4 0 0 0 0 http://identifiers.org/hgnc/25928 "WDR73" 0 0 0 0 0 0 MONDO:0012470 "prostate cancer, hereditary, 7" 0 3 0 0 0 0 UBERON:0000475 "organism subdivision" 0 0 0 0 0 0 @@ -40761,9 +40772,9 @@ MONDO:0019213 "cerebral organic aciduria" 1 1 0 0 0 1 MONDO:0054806 "microcephaly 23, primary, autosomal recessive" 0 2 0 0 0 0 HsapDv:0000136 "42-year-old human stage" 1 0 0 0 0 0 UBERON:0004942 "submucosa of left hepatic duct" 0 0 0 0 0 1 -MONDO:0002875 "parasitic ectoparasitic infectious disease" 1 3 0 0 0 0 +MONDO:0002875 "parasitic ectoparasitic infectious disease" 1 4 0 0 0 0 http://identifiers.org/hgnc/25712 "PGAP1" 0 0 0 0 0 0 -MONDO:0015385 "external auditory canal aplasia/hypoplasia" 0 4 0 0 0 0 +MONDO:0015385 "external auditory canal aplasia/hypoplasia" 0 3 0 0 0 0 MONDO:0010296 "immunodeficiency 61" 0 6 0 0 0 0 MONDO:0032898 "spermatogenic failure 43" 0 1 0 0 0 0 ECTO:7000114 "exposure to aerosol" 1 0 0 0 0 0 @@ -40788,7 +40799,7 @@ MONDO:0015187 "obsolete rare inflammatory bowel disease" 1 1 0 0 0 0 GO:0045719 "negative regulation of glycogen biosynthetic process" 1 0 0 0 0 1 MONDO:0010428 "chromosome Xp11.23-p11.22 duplication syndrome" 1 7 0 0 0 0 UBERON:0002486 "glottis" 0 0 0 0 0 0 -MONDO:0011415 "Leber congenital amaurosis 3" 1 5 0 0 0 1 +MONDO:0011415 "Leber congenital amaurosis 3" 1 4 0 0 0 1 MONDO:0017931 "hereditary inclusion body myopathy type 4" 1 3 0 0 0 0 MONDO:0007824 "incisors, lower central, absence of" 0 1 0 0 0 0 UBERON:0002017 "portal vein" 0 0 0 0 0 0 @@ -40800,14 +40811,14 @@ MONDO:0019595 "obsolete 46,XY disorder of sex development due to adrenal and tes CHEBI:76823 "EC 6.3.1.* (acid-ammonia/amine ligase) inhibitor" 1 0 0 0 0 0 CL:1001588 "colon glandular cell" 1 1 0 0 0 1 MONDO:0002162 "fallopian tube adenosarcoma" 1 3 0 0 0 1 -MONDO:0001719 "gonococcal bursitis" 1 6 0 0 0 1 +MONDO:0001719 "gonococcal bursitis" 1 4 0 0 0 1 GO:0097325 "melanocyte proliferation" 1 0 0 0 0 0 MONDO:0033862 "primary autoimmune enteropathy" 0 1 0 0 0 0 http://identifiers.org/hgnc/2186 "COL11A1" 0 0 0 0 0 0 http://identifiers.org/hgnc/13254 "FTSJ1" 0 0 0 0 0 0 MONDO:0022863 "corneal crystals myopathy neuropathy" 0 1 0 0 0 0 MONDO:0003523 "gastrin-producing neuroendocrine tumor" 1 5 0 0 0 0 -MONDO:0008054 "juvenile dermatomyositis" 1 12 0 0 0 1 +MONDO:0008054 "juvenile dermatomyositis" 1 11 0 0 0 1 MONDO:0009445 "ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome" 1 8 0 0 0 0 GO:1903431 "positive regulation of cell maturation" 1 0 0 0 0 1 GO:0050871 "positive regulation of B cell activation" 1 0 0 0 0 1 @@ -40833,7 +40844,7 @@ MONDO:0017667 "isolated diffuse palmoplantar keratoderma" 1 3 0 0 0 1 GO:0032780 "negative regulation of ATPase activity" 1 0 0 0 0 1 MONDO:0000280 "obsolete Brazilian hemorrhagic fever" 0 0 0 0 0 0 http://identifiers.org/hgnc/1353 "C8B" 0 0 0 0 0 0 -MONDO:0004565 "intestinal obstruction" 1 9 0 0 0 0 +MONDO:0004565 "intestinal obstruction" 1 7 0 0 0 0 PATO:0001563 "increased mass" 1 0 0 0 0 1 UBERON:8300000 "skin of scalp" 0 0 0 0 0 1 UBERON:0001530 "common carotid artery plus branches" 0 0 0 0 0 0 @@ -40863,7 +40874,7 @@ MONDO:0004372 "chronic toxic polyneuropathy" 0 3 0 0 0 0 http://identifiers.org/hgnc/2252 "CORO1A" 0 0 0 0 0 0 UBERON:0002426 "chest muscle" 0 0 0 0 0 1 UBERON:0001949 "gingival epithelium" 0 0 0 0 0 1 -MONDO:0005058 "leiomyosarcoma" 1 14 0 0 0 0 +MONDO:0005058 "leiomyosarcoma" 1 13 0 0 0 0 MONDO:0014006 "Schuurs-Hoeijmakers syndrome" 1 6 0 0 0 0 CL:1000042 "forebrain neuroblast" 0 0 0 0 0 1 MONDO:0007246 "calcific aortic disease with immunologic abnormalities, familial" 0 3 0 0 0 0 @@ -40877,14 +40888,14 @@ UBERON:0005192 "deferent duct artery" 0 0 0 0 0 1 MONDO:0030316 "lymphatic malformation 11" 0 1 0 0 0 0 MONDO:0016975 "thymoma type AB" 1 8 0 0 0 0 MONDO:0016751 "malignant perineurioma" 1 5 0 0 0 1 -MONDO:0019499 "Turner syndrome" 1 20 0 0 0 0 +MONDO:0019499 "Turner syndrome" 1 19 0 0 0 0 CL:0002431 "CD4-positive, CD8-intermediate double-positive thymocyte" 1 0 0 0 0 0 GO:0010463 "mesenchymal cell proliferation" 1 0 0 0 0 0 MONDO:0011029 "myeloid tumor suppressor" 0 1 0 0 0 0 UBERON:0035131 "auditory ossicle cartilage element" 0 0 0 0 0 1 -MONDO:0014438 "Bardet-Biedl syndrome 10" 1 7 0 0 0 1 +MONDO:0014438 "Bardet-Biedl syndrome 10" 1 6 0 0 0 1 GO:0051055 "negative regulation of lipid biosynthetic process" 1 0 0 0 0 1 -MONDO:0015844 "agenesis and aplasia of uterine body" 0 2 0 0 0 0 +MONDO:0015844 "agenesis and aplasia of uterine body" 0 1 0 0 0 0 http://identifiers.org/hgnc/17616 "IL17RD" 0 0 0 0 0 0 HP:0000297 "Facial hypotonia" 1 2 0 0 0 0 http://identifiers.org/hgnc/7610 "MYOC" 0 0 0 0 0 0 @@ -40906,12 +40917,12 @@ MONDO:0011417 "hemochromatosis type 3" 1 8 0 0 0 1 GO:0100051 "obsolete positive regulation of meiotic nuclear division by transcription from RNA polymerase II promoter" 1 0 0 0 0 0 UBERON:0007831 "pectoral girdle skeleton" 0 0 0 0 0 1 MONDO:0006923 "Bacillaceae infectious disease" 1 3 0 0 0 1 -MONDO:0001282 "fallopian tube endometriosis" 1 6 0 0 0 1 +MONDO:0001282 "fallopian tube endometriosis" 1 5 0 0 0 1 MONDO:0006262 "lacrimal gland adenoid cystic carcinoma" 1 5 0 0 0 1 UBERON:0003530 "pedal digit skin" 0 0 0 0 0 1 MONDO:0000965 "liver lipoma" 1 3 0 0 0 1 MONDO:0022576 "bilirubin induced brain injury in the newborn" 0 1 0 0 0 0 -MONDO:0013516 "retinitis pigmentosa 60" 1 4 0 0 0 1 +MONDO:0013516 "retinitis pigmentosa 60" 1 3 0 0 0 1 http://identifiers.org/hgnc/4551 "TECR" 0 0 0 0 0 0 MONDO:0007085 "alopecia-epilepsy-pyorrhea-intellectual disability syndrome" 1 7 0 0 0 0 MONDO:0056820 "nasal cavity and paranasal sinus neoplasm" 1 2 0 0 0 0 @@ -40949,7 +40960,7 @@ http://identifiers.org/hgnc/9603 "PTGIS" 0 0 0 0 0 0 MONDO:0024363 "rapid eye movement sleep disorder" 0 2 0 0 0 1 http://identifiers.org/hgnc/5985 "IL17RA" 0 0 0 0 0 0 MONDO:0019388 "pelvis syndrome" 1 5 0 0 0 0 -MONDO:0001462 "descending colon cancer" 1 5 0 0 0 1 +MONDO:0001462 "descending colon cancer" 1 4 0 0 0 1 GO:0002443 "leukocyte mediated immunity" 1 0 0 0 0 0 MONDO:0012861 "premature ovarian failure 6" 1 3 0 0 0 1 MONDO:0004033 "familial ovarian carcinoma" 1 3 0 0 0 1 @@ -40968,7 +40979,7 @@ MONDO:0010135 "thyroid dyshormonogenesis 3" 1 5 0 0 0 1 CHEBI:26932 "tetrapyrrole" 1 0 0 0 0 0 UBERON:0002827 "vestibulocochlear ganglion" 0 0 0 0 0 0 MONDO:0021520 "benign neoplasm of floor of mouth" 1 5 0 0 0 1 -MONDO:0005921 "Plasmodium vivax malaria" 1 9 0 0 0 1 +MONDO:0005921 "Plasmodium vivax malaria" 1 8 0 0 0 1 MONDO:0015213 "non-syndromic visceral malformation" 0 1 0 0 0 0 MONDO:0018482 "obsolete squamous cell carcinoma of stomach" 0 0 0 0 0 0 http://identifiers.org/hgnc/7797 "NFKBIA" 0 0 0 0 0 0 @@ -40991,7 +41002,7 @@ MONDO:0014364 "mitochondrial complex III deficiency nuclear type 8" 1 4 0 0 0 1 MONDO:0010048 "spastic paraplegia with myoclonic epilepsy" 0 3 0 0 0 0 HP:0007556 "Plantar hyperkeratosis" 1 1 0 0 0 0 MONDO:0017830 "severe Canavan disease" 1 3 0 0 0 0 -MONDO:0011899 "Noonan syndrome-like disorder with loose anagen hair" 1 8 0 0 0 0 +MONDO:0011899 "Noonan syndrome-like disorder with loose anagen hair" 1 10 0 0 0 0 MONDO:0007649 "gastric juice peptides" 0 1 0 0 0 0 NCIT:C43431 "Activity" 1 0 0 0 0 0 GO:0003104 "positive regulation of glomerular filtration" 1 0 0 0 0 1 @@ -41025,7 +41036,7 @@ UBERON:0001886 "choroid plexus" 0 0 0 0 0 0 GO:1902116 "negative regulation of organelle assembly" 1 0 0 0 0 1 GO:0016504 "peptidase activator activity" 1 0 0 0 0 1 MONDO:0012473 "right pulmonary artery, anomalous origin of, familial" 0 4 0 0 0 0 -MONDO:0004624 "uvula cancer" 1 6 0 0 0 1 +MONDO:0004624 "uvula cancer" 1 5 0 0 0 1 http://identifiers.org/hgnc/2180 "COCH" 0 0 0 0 0 0 UBERON:0002673 "vestibular nuclear complex" 0 0 0 0 0 0 UBERON:0006286 "radius cartilage element" 0 0 0 0 0 1 @@ -41033,7 +41044,7 @@ GO:0090326 "positive regulation of locomotion involved in locomotory behavior" 1 MONDO:0011719 "gastrointestinal stromal tumor" 1 13 0 0 0 0 MONDO:0020289 "congenital tricuspid malformation" 0 6 0 0 0 1 UBERON:0001919 "endothelium of vein" 0 0 0 0 0 1 -MONDO:0005186 "cocaine dependence" 1 7 0 0 0 1 +MONDO:0005186 "cocaine dependence" 1 6 0 0 0 1 http://identifiers.org/hgnc/5042 "HNRNPH2" 0 0 0 0 0 0 CHEBI:16670 "peptide" 1 0 0 0 0 0 MONDO:0020161 "congenital ectropion" 0 3 0 0 0 0 @@ -41099,7 +41110,7 @@ ENVO:00000446 "terrestrial biome" 1 0 0 0 0 1 MONDO:0001977 "ureteral lymphoma" 1 3 0 0 0 1 http://identifiers.org/hgnc/17175 "PLCE1" 0 0 0 0 0 0 MONDO:0008798 "nonsyndromic congenital nail disorder 4" 1 7 0 0 0 1 -MONDO:0005952 "scarlet fever" 1 10 0 0 0 0 +MONDO:0005952 "scarlet fever" 1 9 0 0 0 0 GO:1900132 "positive regulation of lipid binding" 1 0 0 0 0 1 http://identifiers.org/hgnc/13875 "FOXP2" 0 0 0 0 0 0 MONDO:0000715 "lymph node adenoid cystic carcinoma" 1 1 0 0 0 1 @@ -41116,7 +41127,7 @@ MONDO:0001330 "presbyopia" 1 6 0 0 0 0 UBERON:0010367 "conjunctival vein" 0 0 0 0 0 1 MONDO:0006866 "neonatal myasthenia gravis" 1 6 0 0 0 0 CHEBI:29745 "barbiturate" 1 0 0 0 0 0 -MONDO:0011226 "autosomal dominant nonsyndromic hearing loss 15" 1 5 0 0 0 1 +MONDO:0011226 "autosomal dominant nonsyndromic hearing loss 15" 1 4 0 0 0 1 GO:0006767 "water-soluble vitamin metabolic process" 1 0 0 0 0 0 MONDO:0016815 "Leigh syndrome with leukodystrophy" 0 5 0 0 0 0 CL:0000541 "melanoblast" 1 2 0 0 0 0 @@ -41126,7 +41137,7 @@ UBERON:0005025 "mucosa of uvula" 0 0 0 0 0 1 MONDO:0030997 "mitochondrial complex 1 deficiency, nuclear type 37" 0 1 0 0 0 0 MONDO:0007748 "hypercalciuria, absorptive, 2" 0 5 0 0 0 1 UBERON:0011200 "sacrococcygeal symphysis" 0 0 0 0 0 1 -MONDO:0005149 "pulmonary hypertension" 1 7 0 0 0 0 +MONDO:0005149 "pulmonary hypertension" 1 6 0 0 0 0 MONDO:0007276 "cat-eye syndrome" 1 8 0 0 0 0 NCBITaxon:810 "Chlamydia" 0 9 0 0 0 0 MONDO:0018434 "acute myeloid leukemia with t(9;11)(p22;q23)" 0 2 0 0 0 0 @@ -41135,7 +41146,7 @@ MONDO:0013417 "complement component 3 deficiency" 1 8 0 0 0 1 UBERON:0003864 "middle phalanx of manus" 0 0 0 0 0 1 MONDO:0012637 "COG1-CDG" 1 7 0 0 0 0 UBERON:0004182 "mammary gland cord" 0 0 0 0 0 1 -MONDO:0001503 "primary eye hypotony" 0 5 0 0 0 0 +MONDO:0001503 "primary eye hypotony" 0 4 0 0 0 0 UBERON:0009853 "body of uterus" 0 0 0 0 0 1 MONDO:0007043 "Pfeiffer syndrome" 1 9 0 0 0 0 GO:0008654 "phospholipid biosynthetic process" 1 0 0 0 0 0 @@ -41146,7 +41157,7 @@ MONDO:0000765 "obsolete corneal stromal dystrophy" 0 0 0 0 0 0 MONDO:0006257 "jejunal neuroendocrine tumor G1" 1 3 0 0 0 1 UBERON:5106052 "digit 5 digitopodial skeleton" 0 0 0 0 0 1 NCBITaxon:1776223 "Gorgoderoidea" 0 1 0 0 0 0 -MONDO:0008963 "Chediak-Higashi syndrome" 1 12 0 0 0 0 +MONDO:0008963 "Chediak-Higashi syndrome" 1 11 0 0 0 0 MONDO:0000074 "obsolete neurodegeneration with brain iron accumulation" 0 0 0 0 0 0 UBERON:0008788 "posterior cranial fossa" 0 0 0 0 0 0 http://identifiers.org/hgnc/3330 "EML1" 0 0 0 0 0 0 @@ -41163,7 +41174,7 @@ GO:0090316 "positive regulation of intracellular protein transport" 1 0 0 0 0 1 MONDO:0002489 "malignant breast phyllodes tumor" 1 7 0 0 0 1 http://identifiers.org/hgnc/10729 "SEMA4A" 0 0 0 0 0 0 MONDO:0019835 "primary hypophysitis" 1 7 0 0 0 0 -MONDO:0014145 "Leber congenital amaurosis 17" 1 4 0 0 0 1 +MONDO:0014145 "Leber congenital amaurosis 17" 1 3 0 0 0 1 MONDO:0001765 "polyneuropathy in collagen vascular disease" 0 5 0 0 0 0 HP:0000479 "Abnormal retinal morphology" 1 4 0 0 0 0 NCBITaxon:147368 "Pooideae" 0 1 0 0 0 0 @@ -41191,10 +41202,10 @@ MONDO:0014324 "pachyonychia congenita 3" 1 3 0 0 0 1 MONDO:0010293 "ectodermal dysplasia and immune deficiency" 0 11 0 0 0 0 MONDO:0012212 "Loeys-Dietz syndrome 1" 1 8 0 0 0 1 MONDO:0044657 "MME-related autosomal dominant Charcot Marie Tooth disease type 2" 0 2 0 0 0 0 -MONDO:0004641 "skin carcinoma in situ" 1 22 0 0 0 1 +MONDO:0004641 "skin carcinoma in situ" 1 15 0 0 0 1 UBERON:0035552 "deep vein" 0 0 0 0 0 1 MONDO:0020268 "obsolete ichthyosis associated with ocular features" 0 1 0 0 0 0 -MONDO:0002070 "ventricular septal defect" 1 13 0 0 0 0 +MONDO:0002070 "ventricular septal defect" 1 12 0 0 0 0 MONDO:0021134 "acquired factor X deficiency" 1 4 0 0 0 1 MONDO:0006626 "diabetic neuropathy" 1 7 0 0 0 1 MONDO:0043731 "lytic metastatic bone lesion" 1 4 0 0 0 0 @@ -41222,7 +41233,7 @@ http://identifiers.org/hgnc/5009 "HMGA2" 0 0 0 0 0 0 CHEBI:37395 "mucopolysaccharide" 1 0 0 0 0 0 UBERON:0002125 "thymus lobule" 0 0 0 0 0 1 MONDO:0042604 "Sandhaus-Ben-Ami syndrome" 0 3 0 0 0 0 -MONDO:0004917 "internal hordeolum" 1 5 0 0 0 1 +MONDO:0004917 "internal hordeolum" 1 4 0 0 0 1 UBERON:0015063 "autopod endochondral element" 0 0 0 0 0 1 NCBITaxon:3760 "Prunus persica" 0 1 0 0 0 0 UBERON:0008436 "thoracic vertebral arch" 0 0 0 0 0 1 @@ -41249,7 +41260,7 @@ MONDO:0012765 "lymphatic malformation 2" 0 5 0 0 0 0 http://identifiers.org/hgnc/5541 "IGHM" 0 0 0 0 0 0 http://identifiers.org/hgnc/6317 "KIF1C" 0 0 0 0 0 0 MONDO:0017323 "hypocalcemic rickets" 1 5 0 0 0 0 -MONDO:0006663 "perinatal asphyxia" 1 10 0 0 0 0 +MONDO:0006663 "perinatal asphyxia" 1 9 0 0 0 0 MONDO:0003588 "larynx liposarcoma" 1 3 0 0 0 1 CHEBI:22586 "antioxidant" 1 0 0 0 0 0 UBERON:0000060 "anatomical wall" 0 0 0 0 0 0 @@ -41261,7 +41272,7 @@ UBERON:0004528 "alveolar ridge of mandible" 0 0 0 0 0 1 NBO:0000388 "involuntary movement behavior" 1 0 0 0 0 0 CL:0000138 "chondrocyte" 1 3 0 0 0 0 MONDO:0013741 "familial temporal lobe epilepsy 5" 1 5 0 0 0 0 -MONDO:0000705 "Clostridium difficile colitis" 1 7 0 0 0 1 +MONDO:0000705 "Clostridium difficile colitis" 1 6 0 0 0 1 MONDO:0006377 "pleural biphasic mesothelioma" 1 3 0 0 0 0 MONDO:0018820 "recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome" 1 5 0 0 0 0 http://identifiers.org/hgnc/3309 "ELANE" 0 0 0 0 0 0 @@ -41293,29 +41304,29 @@ HsapDv:0000133 "39-year-old human stage" 1 0 0 0 0 0 http://identifiers.org/hgnc/1984 "CISH" 0 0 0 0 0 0 CHR:9606-chr16q24.1 "16q24.1 (Human)" 0 0 0 0 0 0 MONDO:0025370 "urogenital neoplasm" 1 2 0 0 0 1 -MONDO:0002307 "blepharoconjunctivitis" 1 8 0 0 0 1 +MONDO:0002307 "blepharoconjunctivitis" 1 7 0 0 0 1 MONDO:0018977 "polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG" 1 3 0 0 0 0 UBERON:0012252 "endocervical epithelium" 0 0 0 0 0 1 NCBITaxon:2082224 "Strongyloidoidea" 0 1 0 0 0 0 MONDO:0016144 "qualitative or quantitative defects of delta-sarcoglycan" 0 3 0 0 0 1 -MONDO:0001421 "frontal lobe neoplasm" 1 6 0 0 0 1 +MONDO:0001421 "frontal lobe neoplasm" 1 5 0 0 0 1 http://identifiers.org/hgnc/14048 "MRPS16" 0 0 0 0 0 0 UBERON:0014463 "cardiac ganglion" 0 0 0 0 0 1 -MONDO:0001936 "brawny scleritis" 0 5 0 0 0 0 +MONDO:0001936 "brawny scleritis" 0 4 0 0 0 0 GO:0051146 "striated muscle cell differentiation" 1 0 0 0 0 0 MONDO:0006669 "bacterial endocarditis" 1 7 0 0 0 1 UBERON:0008397 "tracheobronchial epithelium" 0 0 0 0 0 1 UBERON:0003442 "hindlimb nerve" 0 0 0 0 0 1 MONDO:0014600 "dyskeratosis congenita, autosomal recessive 6" 1 5 0 0 0 1 -MONDO:0012629 "paroxysmal nonkinesigenic dyskinesia 2" 1 6 0 0 0 0 -MONDO:0012163 "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" 1 8 0 0 0 0 +MONDO:0012629 "paroxysmal nonkinesigenic dyskinesia 2" 1 5 0 0 0 0 +MONDO:0012163 "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" 1 7 0 0 0 0 http://identifiers.org/hgnc/2509 "CTNNA1" 0 0 0 0 0 0 MONDO:0003632 "endocervicitis" 1 4 0 0 0 1 MONDO:0019185 "obsolete rhabdomyosarcoma" 0 0 0 0 0 0 MONDO:0018043 "Thomas syndrome" 1 6 0 0 0 0 MONDO:0015737 "typical nemaline myopathy" 1 9 0 0 0 0 UBERON:0007806 "connecting stalk" 0 0 0 0 0 0 -MONDO:0011480 "autosomal dominant nonsyndromic hearing loss 20" 1 6 0 0 0 1 +MONDO:0011480 "autosomal dominant nonsyndromic hearing loss 20" 1 5 0 0 0 1 MONDO:0030302 "immunodeficiency 81" 0 1 0 0 0 0 MONDO:0032723 "immunodeficiency 60" 0 1 0 0 0 0 MONDO:0009547 "macrosomia-microphthalmia-cleft palate syndrome" 1 6 0 0 0 0 @@ -41361,7 +41372,7 @@ MONDO:0010693 "nystagmus 1, congenital, X-linked" 1 3 0 0 0 1 MONDO:0017252 "congenital pulmonary airway malformation type 4" 0 2 0 0 0 0 MONDO:0013419 "complement component C1s deficiency" 1 4 0 0 0 0 HP:0000243 "Trigonocephaly" 1 5 0 0 0 0 -MONDO:0013750 "atrial septal defect 8" 1 4 0 0 0 1 +MONDO:0013750 "atrial septal defect 8" 1 3 0 0 0 1 CHEBI:35692 "dicarboxylic acid" 1 0 0 0 0 0 MONDO:0002902 "obsolete pseudohypoparathyroidism" 0 0 0 0 0 0 MONDO:0001517 "dysentery" 1 7 0 0 0 1 @@ -41374,11 +41385,11 @@ MONDO:0023045 "ectodermal dysplasia arthrogryposis diabetes mellitus" 0 1 0 0 0 MONDO:0018000 "hereditary thrombocytosis with transverse limb defect" 1 3 0 0 0 0 http://identifiers.org/hgnc/6971 "MDH2" 0 0 0 0 0 0 UBERON:0001251 "marginal zone of spleen" 0 0 0 0 0 0 -MONDO:0027462 "autosomal recessive cutis laxa type 2C" 1 4 0 0 0 0 +MONDO:0027462 "autosomal recessive cutis laxa type 2C" 1 3 0 0 0 0 MONDO:0001245 "microcytic anemia" 1 6 0 0 0 1 MONDO:0013676 "obsolete hypermethioninemia due to adenosine kinase deficiency" 0 0 0 0 0 0 NCBITaxon:11673 "Feline immunodeficiency virus" 0 1 0 0 0 0 -MONDO:0014182 "autosomal recessive nonsyndromic hearing loss 88" 1 4 0 0 0 1 +MONDO:0014182 "autosomal recessive nonsyndromic hearing loss 88" 1 3 0 0 0 1 http://identifiers.org/hgnc/8646 "PCBD1" 0 0 0 0 0 0 HP:0000646 "Amblyopia" 1 3 0 0 0 0 NCBITaxon:54292 "Apodemus flavicollis" 0 1 0 0 0 0 @@ -41416,13 +41427,13 @@ http://identifiers.org/hgnc/11100 "SMARCA4" 0 0 0 0 0 0 MONDO:0024311 "cancer affecting bone of limb skeleton" 1 1 0 0 0 1 MONDO:0003379 "rectum leiomyosarcoma" 1 3 0 0 0 1 MONDO:0014301 "dowling-degos disease 3" 0 3 0 0 0 0 -MONDO:0002352 "larynx cancer" 1 11 0 0 0 1 +MONDO:0002352 "larynx cancer" 1 9 0 0 0 1 NCBITaxon:6448 "Gastropoda" 0 1 0 0 0 0 MONDO:0007657 "giant neutrophil leukocytes" 0 2 0 0 0 0 UBERON:0022292 "splenic arteriole" 0 0 0 0 0 1 GO:0002577 "regulation of antigen processing and presentation" 1 0 0 0 0 1 http://identifiers.org/hgnc/7684 "NDUFA10" 0 0 0 0 0 0 -MONDO:0017874 "Argentine hemorrhagic fever" 1 5 0 0 0 1 +MONDO:0017874 "Argentine hemorrhagic fever" 1 4 0 0 0 1 MONDO:0012548 "Kostmann syndrome" 1 5 0 0 0 0 MONDO:0009524 "intellectual disability-spasticity-ectrodactyly syndrome" 1 6 0 0 0 0 MONDO:0020789 "pseudo-TORCH syndrome 1" 0 1 0 0 0 0 @@ -41430,7 +41441,7 @@ MONDO:0020363 "honey-droplet corneal dystrophy" 0 3 0 0 0 0 FOODON:03430150 "whole, natural shape"@en 0 0 0 0 0 0 http://identifiers.org/hgnc/2511 "CTNNA3" 0 0 0 0 0 0 GO:0042481 "regulation of odontogenesis" 1 0 0 0 0 1 -MONDO:0017088 "isolated amyelia" 0 2 0 0 0 0 +MONDO:0017088 "isolated amyelia" 0 1 0 0 0 0 UBERON:0010323 "cranial skeletal system" 0 0 0 0 0 0 UBERON:8410020 "venule of appendix" 0 0 0 0 0 1 MONDO:0018478 "obsolete primary hyperoxaluria" 0 0 0 0 0 0 @@ -41443,14 +41454,14 @@ MONDO:0041996 "thallium poisoning" 0 1 0 0 0 0 http://identifiers.org/hgnc/2895 "EDAR" 0 0 0 0 0 0 MONDO:0002517 "tenosynovitis of foot and ankle" 0 2 0 0 0 0 MONDO:0007167 "atelosteogenesis type I" 1 6 0 0 0 0 -MONDO:0005916 "placenta accreta" 1 6 0 0 0 0 +MONDO:0005916 "placenta accreta" 1 5 0 0 0 0 UBERON:0006694 "cerebellum vasculature" 0 0 0 0 0 1 GO:0019216 "regulation of lipid metabolic process" 1 0 0 0 0 1 GO:0050778 "positive regulation of immune response" 1 0 0 0 0 1 SO:1000002 "substitution" 1 0 0 0 0 0 -MONDO:0015347 "multicentric reticulohistiocytosis" 1 11 0 0 0 0 -MONDO:0002083 "Richter syndrome" 1 6 0 0 0 0 -MONDO:0008375 "retinal detachment" 1 14 0 0 0 0 +MONDO:0015347 "multicentric reticulohistiocytosis" 1 10 0 0 0 0 +MONDO:0002083 "Richter syndrome" 1 5 0 0 0 0 +MONDO:0008375 "retinal detachment" 1 11 0 0 0 0 GO:0099699 "integral component of synaptic membrane" 1 0 0 0 0 1 UBERON:0012651 "mucosa of gastroduodenal junction" 0 0 0 0 0 1 MONDO:0009072 "Dandy-Walker syndrome" 1 11 0 0 0 0 @@ -41465,8 +41476,8 @@ MONDO:0015878 "obsolete rare disease with autism" 0 2 0 0 0 0 MONDO:0015651 "obsolete neurocutaneous syndrome with epilepsy" 0 2 0 0 0 0 MONDO:0035133 "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome" 0 1 0 0 0 0 MONDO:0002997 "anterior cranial fossa meningioma" 1 3 0 0 0 1 -MONDO:0000948 "xerophthalmia" 1 10 0 0 0 0 -MONDO:0004746 "myopathy of extraocular muscle" 1 5 0 0 0 1 +MONDO:0000948 "xerophthalmia" 1 8 0 0 0 0 +MONDO:0004746 "myopathy of extraocular muscle" 1 4 0 0 0 1 http://identifiers.org/hgnc/15993 "CHST8" 0 0 0 0 0 0 MONDO:0013629 "intellectual disability, autosomal recessive 16" 0 2 0 0 0 0 UBERON:0006936 "thymus subcapsular epithelium" 0 0 0 0 0 1 @@ -41484,14 +41495,14 @@ MONDO:0045008 "cholesterol metabolism disease" 1 2 0 0 0 1 GO:0002574 "thrombocyte differentiation" 1 0 0 0 0 0 MONDO:0016648 "multiple epiphyseal dysplasia" 1 16 0 0 0 0 MONDO:0009013 "convulsive disorder, familial, with prenatal or early onset" 0 3 0 0 0 0 +MONDO:0008351 "obsolete pupil, egg-shaped" 0 3 0 0 0 0 MONDO:0018522 "obsolete acinar cell carcinoma of pancreas" 0 0 0 0 0 0 http://identifiers.org/hgnc/746 "ASL" 0 0 0 0 0 0 -MONDO:0008326 "pseudocholinesterase, increase in plasma level of" 0 1 0 0 0 0 MONDO:0024685 "Philadelphia-positive myelogenous leukemia" 0 2 0 0 0 0 MONDO:0004221 "uterine corpus perivascular epithelioid cell tumor" 1 4 0 0 0 1 MONDO:0044347 "erythrocyte disorder" 1 3 0 0 0 1 MONDO:0018725 "corpus callosum agenesis-macrocephaly-hypertelorism syndrome" 0 3 0 0 0 0 -MONDO:0013796 "chromosome 17q12 duplication syndrome" 1 7 0 0 0 1 +MONDO:0013796 "chromosome 17q12 duplication syndrome" 1 6 0 0 0 1 GO:0019229 "regulation of vasoconstriction" 1 0 0 0 0 1 MONDO:0018166 "oral submucous fibrosis" 1 11 0 0 0 0 CHEBI:17602 "4-aminophenol" 1 0 0 0 0 0 @@ -41509,18 +41520,18 @@ FOODON:03400644 "a. primary food commodities of plant origin (ccpr)"@en 0 1 0 0 MONDO:0001991 "malignant cardiac germ cell tumor" 1 3 0 0 0 1 UBERON:0004222 "stomach smooth muscle" 0 0 0 0 0 1 MONDO:0006560 "hypohidrosis" 1 9 0 0 0 0 -MONDO:0008965 "CHARGE syndrome" 1 12 0 0 0 0 +MONDO:0008965 "CHARGE syndrome" 1 11 0 0 0 0 GO:0035148 "tube formation" 1 0 0 0 0 0 BFO:0000027 "object aggregate"@en 0 0 0 0 0 0 http://identifiers.org/hgnc/6318 "KIF2A" 0 0 0 0 0 0 -MONDO:0009154 "hypothyroidism, congenital, nongoitrous, 5" 1 9 0 0 0 1 +MONDO:0009154 "hypothyroidism, congenital, nongoitrous, 5" 1 8 0 0 0 1 UBERON:0000479 "tissue" 0 0 0 0 0 0 MONDO:0007222 "brachydactyly type D" 1 4 0 0 0 0 MONDO:0004192 "urethra cancer" 1 8 0 0 0 1 MONDO:0054752 "multiple synostoses syndrome 4" 0 2 0 0 0 0 MONDO:0005414 "treatment-refractory schizophrenia" 1 1 0 0 0 1 MONDO:0019451 "chronic neutrophilic leukemia" 1 12 0 0 0 0 -MONDO:0012761 "chromosome 3q29 microduplication syndrome" 1 8 0 0 0 1 +MONDO:0012761 "chromosome 3q29 microduplication syndrome" 1 7 0 0 0 1 GO:0051885 "positive regulation of timing of anagen" 1 0 0 0 0 1 MONDO:0006599 "physical urticaria" 1 3 0 0 0 0 PATO:0000150 "texture" 1 0 0 0 0 0 @@ -41538,7 +41549,7 @@ MONDO:0006768 "obsolete gastric outlet obstruction" 1 0 0 0 0 0 MONDO:0012587 "hypertension, essential, susceptibility to, 7" 0 1 0 0 0 0 UBERON:0001016 "nervous system" 0 0 0 0 0 0 MONDO:0001483 "obsolete Crimean-Congo hemorrhagic fever" 0 0 0 0 0 0 -MONDO:0014624 "Brown syndrome" 1 7 0 0 0 0 +MONDO:0014624 "Brown syndrome" 1 6 0 0 0 0 NCIT:C12913 "Abnormal Cell" 0 0 0 0 0 0 UBERON:0001256 "wall of urinary bladder" 0 0 0 0 0 1 http://identifiers.org/hgnc/14637 "ABCA12" 0 0 0 0 0 0 @@ -41546,7 +41557,7 @@ MONDO:0010303 "obsolete colobomatous microphthalmia" 0 0 0 0 0 0 MONDO:0019133 "visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome" 1 3 0 0 0 0 http://identifiers.org/hgnc/11391 "AURKC" 0 0 0 0 0 0 MONDO:0000993 "prostate squamous cell carcinoma" 1 5 0 0 0 1 -MONDO:0017325 "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation" 1 2 0 0 0 0 +MONDO:0017325 "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation" 1 3 0 0 0 0 GO:0050879 "multicellular organismal movement" 1 0 0 0 0 0 MONDO:0009585 "encephalopathy due to beta-mercaptolactate-cysteine disulfiduria" 0 6 0 0 0 0 PATO:0002129 "neoplastic, invasive" 1 0 0 0 0 0 @@ -41560,7 +41571,7 @@ MONDO:0044880 "cystic tumor of the pancreas" 0 1 0 0 0 0 CL:1001431 "kidney collecting duct principal cell" 0 1 0 0 0 1 NCBITaxon:169495 "This" 0 1 0 0 0 0 MONDO:0000970 "breast lipoma" 1 5 0 0 0 1 -MONDO:0013826 "autosomal recessive nonsyndromic hearing loss 86" 1 5 0 0 0 1 +MONDO:0013826 "autosomal recessive nonsyndromic hearing loss 86" 1 4 0 0 0 1 GO:0015926 "glucosidase activity" 1 0 0 0 0 0 MONDO:0009005 "complement component C1r/C1s deficiency" 1 4 0 0 0 0 UBERON:0010698 "manual digit metacarpus pre-cartilage condensation" 0 0 0 0 0 1 @@ -41603,7 +41614,7 @@ MONDO:0014667 "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxi MONDO:0015609 "advanced sleep phase syndrome" 1 9 0 0 0 0 CL:0000509 "gastrin secreting cell" 1 0 0 0 0 0 MONDO:0023191 "obsolete Freire-Maia odontotrichomelic syndrome" 0 0 0 0 0 0 -MONDO:0019100 "neuromyelitis optica" 1 11 0 0 0 0 +MONDO:0019100 "neuromyelitis optica" 1 10 0 0 0 0 GO:0008406 "gonad development" 1 0 0 0 0 0 GO:0044403 "biological process involved in symbiotic interaction" 1 0 0 0 0 0 HP:0001254 "Lethargy" 1 3 0 0 0 0 @@ -41685,7 +41696,7 @@ MONDO:0023567 "Kozlowski Brown Hardwick syndrome" 0 3 0 0 0 0 MONDO:0007032 "prune belly syndrome" 1 13 0 0 0 0 MONDO:0014896 "congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome" 0 3 0 0 0 0 MONDO:0014466 "Neu-Laxova syndrome 2" 1 4 0 0 0 1 -MONDO:0017941 "chikungunya" 1 8 0 0 0 1 +MONDO:0017941 "chikungunya" 1 7 0 0 0 1 GO:0050962 "detection of light stimulus involved in sensory perception" 1 0 0 0 0 1 UBERON:0002537 "hermaphrodite gonad" 0 0 0 0 0 1 MONDO:0003638 "lung meningioma" 1 3 0 0 0 1 @@ -41722,7 +41733,7 @@ MONDO:0033374 "developmental and epileptic encephalopathy, 65" 0 3 0 0 0 0 MONDO:0011527 "Charcot-Marie-Tooth disease type 4E" 1 8 0 0 0 0 FOODON:03420113 "mammalian milk or milk component"@en 1 0 0 0 0 0 GO:0006521 "regulation of cellular amino acid metabolic process" 1 0 0 0 0 1 -MONDO:0019082 "bullous pemphigoid" 1 12 0 0 0 0 +MONDO:0019082 "bullous pemphigoid" 1 10 0 0 0 0 CHEBI:35479 "alkali metal salt" 0 0 0 0 0 0 UBERON:0001247 "falciform ligament" 0 0 0 0 0 1 UBERON:0011955 "left hepatic vein" 0 0 0 0 0 1 @@ -41779,7 +41790,7 @@ UBERON:0000165 "mouth" 0 0 0 0 0 1 CHEBI:16526 "carbon dioxide" 1 0 0 0 0 0 UBERON:0004707 "pharyngula stage" 0 0 0 0 0 0 http://identifiers.org/hgnc/17073 "ARHGAP26" 0 0 0 0 0 0 -MONDO:0018624 "spontaneous intracranial hypotension" 0 3 0 0 0 0 +MONDO:0018624 "spontaneous intracranial hypotension" 0 2 0 0 0 0 MONDO:0000323 "obsolete familial adenomatous polyposis" 0 0 0 0 0 0 MONDO:0023102 "facio skeletal genital syndrome rippberger type" 0 1 0 0 0 0 http://identifiers.org/hgnc/2501 "CTH" 0 0 0 0 0 0 @@ -41787,20 +41798,18 @@ http://identifiers.org/hgnc/12592 "UROS" 0 0 0 0 0 0 UBERON:0007391 "pelvic appendage cartilage tissue" 0 0 0 0 0 1 MONDO:0018822 "global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome" 1 2 0 0 0 0 MONDO:0100246 "migraine with or without aura, susceptibility to" 1 3 0 0 0 0 -MONDO:0020059 "gonosome number anomaly" 0 1 0 0 0 0 MONDO:0004199 "vulvar keratinizing squamous cell carcinoma" 1 3 0 0 0 1 MONDO:0024330 "infectious otitis media" 1 3 0 0 0 1 CHEBI:13941 "carbamate" 0 0 0 0 0 0 MONDO:0017886 "MIT family translocation renal cell carcinoma" 1 5 0 0 0 0 -MONDO:0006935 "pulmonary subvalvular stenosis" 1 7 0 0 0 0 +MONDO:0006935 "pulmonary subvalvular stenosis" 1 6 0 0 0 0 NCBITaxon:641 "Vibrionaceae" 0 4 0 0 0 0 -MONDO:0014854 "autosomal dominant nonsyndromic hearing loss 66" 1 4 0 0 0 1 +MONDO:0014854 "autosomal dominant nonsyndromic hearing loss 66" 1 3 0 0 0 1 MONDO:0003658 "B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma" 1 5 0 0 0 0 MONDO:0002603 "angiomyolipoma" 1 6 0 0 0 0 http://identifiers.org/hgnc/26038 "TMEM127" 0 0 0 0 0 0 MONDO:0400003 "skeletal fluorosis" 1 0 0 0 0 0 MONDO:0009402 "acrofrontofacionasal dysostosis 2" 1 6 0 0 0 0 -MONDO:0019683 "syndactyly type 2" 1 9 0 0 0 0 MONDO:0010737 "spondyloepiphyseal dysplasia tarda, X-linked" 1 3 0 0 0 1 MONDO:0009196 "ermine phenotype" 1 11 0 0 0 0 MONDO:0021492 "benign neoplasm of major salivary gland" 1 4 0 0 0 1 @@ -41813,7 +41822,7 @@ CHR:9606-chr7q3 "7q3 (Human)" 0 0 0 0 0 0 MONDO:0003325 "nodular ganglioneuroblastoma" 1 3 0 0 0 0 MONDO:0012697 "otosclerosis 7" 0 3 0 0 0 0 http://identifiers.org/hgnc/21679 "RSPO1" 0 0 0 0 0 0 -MONDO:0012796 "retinitis pigmentosa 41" 1 6 0 0 0 1 +MONDO:0012796 "retinitis pigmentosa 41" 1 5 0 0 0 1 MONDO:0005399 "venous thromboembolism" 1 4 0 0 0 0 MONDO:0002210 "obsolete vulva squamous cell carcinoma" 0 0 0 0 0 0 MONDO:0020319 "obsolete acute myeloblastic leukemia without maturation" 0 0 0 0 0 0 @@ -41821,7 +41830,7 @@ MONDO:0014760 "TFRC-related combined immunodeficiency" 0 3 0 0 0 0 UBERON:0015009 "lumbar vertebra endochondral element" 0 0 0 0 0 2 MONDO:0003583 "obsolete atypical lipomatous tumor" 0 0 0 0 0 0 MONDO:0012369 "systemic lupus erythematosus, susceptibility to, 6" 0 1 0 0 0 1 -MONDO:0005335 "colorectal neoplasm" 1 4 0 0 0 1 +MONDO:0005335 "colorectal neoplasm" 1 3 0 0 0 1 MONDO:0017343 "Epstein-Barr virus-associated malignant lymphoproliferative disorder" 0 3 0 0 0 0 CHR:9606-chr13q1 "13q1 (Human)" 0 0 0 0 0 0 UBERON:0000979 "tibia" 0 0 0 0 0 1 @@ -41841,14 +41850,14 @@ NCBITaxon:91347 "Enterobacterales" 0 2 0 0 0 0 http://identifiers.org/hgnc/5013 "HMOX1" 0 0 0 0 0 0 GO:0044107 "cellular alcohol metabolic process" 1 0 0 0 0 0 UBERON:0008785 "upper limb segment" 0 0 0 0 0 1 -MONDO:0023288 "green sandford davison syndrome" 0 3 0 0 0 0 +MONDO:0023288 "green sandford davison syndrome" 0 4 0 0 0 0 UBERON:0004925 "submucosa of laryngopharynx" 0 0 0 0 0 1 ENVO:01001654 "aerosol formation process"@en 1 0 0 0 0 1 HP:0012826 "Moderate" 1 3 0 0 0 0 GO:1905554 "negative regulation of vessel branching" 1 0 0 0 0 1 CL:0000995 "CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor" 0 0 0 0 0 1 ENVO:01001686 "mass of environmental material"@en 1 0 0 0 0 1 -MONDO:0001430 "deep corneal vascularisation" 0 5 0 0 0 0 +MONDO:0001430 "deep corneal vascularisation" 0 4 0 0 0 0 MONDO:0013787 "psychomotor retardation, epilepsy, and craniofacial dysmorphism" 0 2 0 0 0 0 GO:0003824 "catalytic activity" 1 0 0 0 0 0 MONDO:0020722 "nephrolithiasis susceptibility caused by SLC26A1" 0 2 0 0 0 1 @@ -41861,7 +41870,7 @@ MONDO:0013957 "mendelian susceptibility to mycobacterial diseases due to partial CL:2000022 "cardiac septum cell" 1 0 0 0 0 1 GO:0001808 "negative regulation of type IV hypersensitivity" 1 0 0 0 0 1 UBERON:0006136 "unmyelinated nerve fiber" 0 0 0 0 0 0 -MONDO:0016354 "xeroderma pigmentosum-Cockayne syndrome complex" 1 8 0 0 0 0 +MONDO:0016354 "xeroderma pigmentosum-Cockayne syndrome complex" 1 7 0 0 0 0 http://identifiers.org/hgnc/12513 "UCHL1" 0 0 0 0 0 0 MONDO:0018031 "granulomatous slack skin disease" 1 6 0 0 0 0 NCIT:C36862 "Neoplastic Melanocyte" 0 0 0 0 0 0 @@ -41897,7 +41906,7 @@ MONDO:0008856 "immunodeficiency 27A" 0 6 0 0 0 1 MONDO:0003563 "diffuse pulmonary fibrosis" 1 3 0 0 0 0 MONDO:0008319 "protoporphyria, erythropoietic, 1" 1 4 0 0 0 0 MONDO:0100282 "SC phocomelia syndrome" 0 3 0 0 0 0 -MONDO:0001585 "hallucinogen abuse" 1 4 0 0 0 0 +MONDO:0001585 "hallucinogen abuse" 1 3 0 0 0 0 MONDO:0003814 "obsolete gastric diffuse adenocarcinoma" 0 0 0 0 0 0 MONDO:0012864 "chromosome 2q32-q33 deletion syndrome" 1 9 0 0 0 1 GO:0048863 "stem cell differentiation" 1 0 0 0 0 0 @@ -41929,7 +41938,7 @@ MONDO:0023595 "congenital myotonic dystrophy" 1 3 0 0 0 0 UBERON:0010565 "manual digit 1 metacarpus pre-cartilage condensation" 0 0 0 0 0 1 MONDO:0012050 "major depressive disorder 1" 0 3 0 0 0 0 MONDO:0013420 "age related macular degeneration 12" 1 3 0 0 0 1 -MONDO:0024183 "wet beriberi" 0 2 0 0 0 1 +MONDO:0024183 "wet beriberi" 0 1 0 0 0 1 MONDO:0003268 "mixed glioma" 1 6 0 0 0 0 UBERON:0003565 "hindbrain dura mater" 0 0 0 0 0 1 MONDO:0042491 "cervical squamous intraepithelial neoplasia" 1 2 0 0 0 1 @@ -41951,7 +41960,7 @@ http://identifiers.org/hgnc/20653 "SLC9A9" 0 0 0 0 0 0 CHEBI:51959 "organic tricyclic compound" 0 0 0 0 0 0 UBERON:0001307 "capsule of ovary" 0 0 0 0 0 1 http://identifiers.org/hgnc/8565 "PABPN1" 0 0 0 0 0 0 -MONDO:0000980 "aortic atherosclerosis" 1 6 0 0 0 1 +MONDO:0000980 "aortic atherosclerosis" 1 5 0 0 0 1 CL:0010007 "His-Purkinje system cell" 0 0 0 0 0 1 MONDO:0014836 "Charcot-Marie-Tooth disease axonal type 2CC" 1 3 0 0 0 1 HP:0001718 "Mitral stenosis" 1 6 0 0 0 0 @@ -41965,10 +41974,10 @@ GO:0046878 "positive regulation of saliva secretion" 1 0 0 0 0 1 GO:0008242 "omega peptidase activity" 1 0 0 0 0 0 MONDO:0000896 "obsolete chronic neutrophilic leukemia" 0 0 0 0 0 0 MONDO:0002566 "obsolete complex regional pain syndrome" 0 0 0 0 0 0 -MONDO:0019216 "inborn disorder of amino acid absorption and transport" 0 5 0 0 0 0 +MONDO:0019216 "inborn disorder of amino acid absorption and transport" 0 4 0 0 0 0 GO:0010941 "regulation of cell death" 1 0 0 0 0 1 ENVO:01001088 "aerosolised liquids"@en 1 0 0 0 0 1 -MONDO:0005081 "preeclampsia" 1 24 0 0 0 0 +MONDO:0005081 "preeclampsia" 1 22 0 0 0 0 MONDO:0014614 "congenital stationary night blindness 1G" 1 4 0 0 0 1 http://identifiers.org/hgnc/29253 "CC2D2A" 0 0 0 0 0 0 http://identifiers.org/hgnc/3571 "ACSL4" 0 0 0 0 0 0 @@ -41988,7 +41997,7 @@ MONDO:0013669 "breast-ovarian cancer, familial, susceptibility to, 4" 1 2 0 0 0 UBERON:0000080 "mesonephros" 0 0 0 0 0 0 http://identifiers.org/hgnc/14153 "CCDC78" 0 0 0 0 0 0 MONDO:0007605 "fibrinolytic defect" 0 3 0 0 0 0 -MONDO:0010396 "developmental and epileptic encephalopathy, 2" 1 6 0 0 0 1 +MONDO:0010396 "developmental and epileptic encephalopathy, 2" 1 5 0 0 0 1 ECTO:4000036 "exposure to decreased air pressure" 1 0 0 0 0 0 SO:0000704 "gene" 1 0 0 0 0 0 UBERON:0015410 "heart plus pericardium" 0 0 0 0 0 0 @@ -42013,7 +42022,7 @@ CHEBI:27902 "tetracycline" 1 0 0 0 0 0 MONDO:0003187 "Bartholin gland adenoid cystic carcinoma" 1 3 0 0 0 1 MONDO:0005949 "roseolovirus infectious disease" 1 3 0 0 0 1 CL:0000839 "myeloid lineage restricted progenitor cell" 1 3 0 0 0 1 -MONDO:0005836 "male reproductive organ cancer" 1 11 0 0 0 1 +MONDO:0005836 "male reproductive organ cancer" 1 9 0 0 0 1 MONDO:0011703 "spongiform encephalopathy with neuropsychiatric features" 0 3 0 0 0 0 GO:0042592 "homeostatic process" 1 0 0 0 0 0 MONDO:0013408 "FADD-related immunodeficiency" 1 5 0 0 0 0 @@ -42040,9 +42049,9 @@ NCBITaxon:520 "Bordetella pertussis" 0 2 0 0 0 0 MONDO:0018780 "congenital generalized hypercontractile muscle stiffness syndrome" 0 1 0 0 0 0 MONDO:0003130 "mesoblastic nephroma" 1 5 0 0 0 0 MONDO:0019492 "obsolete desmoid tumor" 0 0 0 0 0 0 -MONDO:0016483 "intracranial berry aneurysm" 1 19 0 0 0 0 +MONDO:0016483 "intracranial berry aneurysm" 1 18 0 0 0 0 MONDO:0002416 "ethmoid sinus squamous cell carcinoma" 1 4 0 0 0 1 -MONDO:0001388 "glans penis cancer" 1 5 0 0 0 1 +MONDO:0001388 "glans penis cancer" 1 4 0 0 0 1 GO:0036160 "melanocyte-stimulating hormone secretion" 1 0 0 0 0 0 NCBITaxon:6251 "Ascaris" 0 1 0 0 0 0 GO:0009295 "nucleoid" 1 0 0 0 0 0 @@ -42058,7 +42067,7 @@ MONDO:0020284 "heart position anomaly" 0 1 0 0 0 0 MONDO:0015102 "non-secreting chemodectoma" 0 1 0 0 0 0 GO:0002698 "negative regulation of immune effector process" 1 0 0 0 0 1 MONDO:0001186 "depersonalization disorder" 1 5 0 0 0 0 -MONDO:0001061 "pylorus cancer" 1 5 0 0 0 1 +MONDO:0001061 "pylorus cancer" 1 4 0 0 0 1 MONDO:0000875 "adult acute monocytic leukemia" 1 3 0 0 0 1 MONDO:0013712 "surfactant metabolism dysfunction, pulmonary, 5" 1 3 0 0 0 1 MONDO:0004629 "subacute delirium" 0 3 0 0 0 0 @@ -42087,7 +42096,7 @@ http://identifiers.org/hgnc/9498 "PSAP" 0 0 0 0 0 0 GO:0031981 "nuclear lumen" 1 0 0 0 0 0 http://identifiers.org/hgnc/20318 "SMOC1" 0 0 0 0 0 0 HP:0002047 "Malignant hyperthermia" 1 4 0 0 0 0 -MONDO:0001402 "vaginal cancer" 1 9 0 0 0 1 +MONDO:0001402 "vaginal cancer" 1 8 0 0 0 1 HP:0001669 "Transposition of the great arteries" 1 3 0 0 0 0 GO:0042488 "positive regulation of odontogenesis of dentin-containing tooth" 1 0 0 0 0 1 MONDO:0011099 "human HOXA1 syndromes" 1 7 0 0 0 0 @@ -42096,10 +42105,10 @@ MONDO:0018531 "carcinoma of liver and intrahepatic biliary tract" 1 4 0 0 0 1 NCBITaxon:69474 "Orientia" 0 2 0 0 0 0 MONDO:0028742 "obsolete dysostosis with brachydactyly without extraskeletal manifestations" 0 1 0 0 0 0 CL:1000073 "spinal cord radial glial cell" 0 0 0 0 0 1 -MONDO:0008816 "Chiari malformation type II" 1 6 0 0 0 0 +MONDO:0008816 "Chiari malformation type II" 1 5 0 0 0 0 MONDO:0019847 "obsolete congenital adrenal hypoplasia of maternal cause" 0 2 0 0 0 0 MONDO:0030266 "immunodeficiency 80 with or without congenital cardiomyopathy" 0 1 0 0 0 0 -MONDO:0000127 "geleophysic dysplasia" 1 10 0 0 0 0 +MONDO:0000127 "geleophysic dysplasia" 1 11 0 0 0 0 MONDO:0018109 "fulminant viral hepatitis" 1 2 0 0 0 0 UBERON:0000310 "breast" 0 0 0 0 0 0 MONDO:0019743 "nephropathy secondary to a storage or other metabolic disease" 0 2 0 0 0 0 @@ -42139,7 +42148,7 @@ MONDO:0030607 "Bryant-Li-Bhoj neurodevelopmental syndrome 2" 0 1 0 0 0 0 MONDO:0011326 "citrullinemia, type II, adult-onset" 1 4 0 0 0 0 MONDO:0032721 "spondyloepiphyseal dysplasia, kondo-fu type" 0 1 0 0 0 0 MONDO:0018111 "idiopathic severe pneumococcemia" 0 2 0 0 0 0 -MONDO:0011502 "Wolfram syndrome 2" 1 6 0 0 0 1 +MONDO:0011502 "Wolfram syndrome 2" 1 5 0 0 0 1 MONDO:0008911 "cardiac lipidosis, familial" 0 4 0 0 0 0 http://identifiers.org/hgnc/21708 "CCM2" 0 0 0 0 0 0 MONDO:0003338 "obsolete von Economo disease" 0 0 0 0 0 0 @@ -42158,11 +42167,12 @@ http://identifiers.org/hgnc/11741 "TFAM" 0 0 0 0 0 0 MONDO:0002971 "amelanotic melanoma" 1 6 0 0 0 0 http://identifiers.org/hgnc/28510 "GLIS3" 0 0 0 0 0 0 NCBITaxon:10376 "Human gammaherpesvirus 4" 0 1 0 0 0 0 -MONDO:0016022 "early myoclonic encephalopathy" 1 12 0 0 0 0 +MONDO:0016022 "early myoclonic encephalopathy" 1 11 0 0 0 0 MONDO:0009681 "Ullrich congenital muscular dystrophy 1" 0 2 0 0 0 0 UBERON:0008255 "right clavicle" 0 0 0 0 0 1 MONDO:0005278 "serous adenocarcinoma" 1 5 0 0 0 0 MONDO:0006763 "frozen shoulder" 1 7 0 0 0 0 +MONDO:0043195 "Rubinstein Taybi like syndrome" 0 4 0 0 0 0 GO:0099643 "signal release from synapse" 1 0 0 0 0 1 MONDO:0010151 "tricarboxylic acid cycle, defect of" 0 3 0 0 0 0 MONDO:0003804 "blood protein disease" 0 3 0 0 0 0 @@ -42177,7 +42187,7 @@ MONDO:0002331 "nephrosis" 1 4 0 0 0 0 MONDO:0012019 "spondyloepiphyseal dysplasia, Kimberley type" 1 5 0 0 0 0 MONDO:0017656 "motor stereotypies" 0 1 0 0 0 0 MONDO:0100126 "P5CS deficiency" 1 0 0 0 0 1 -MONDO:0001227 "chronic tympanitis" 1 6 0 0 0 1 +MONDO:0001227 "chronic tympanitis" 1 4 0 0 0 1 MONDO:0013292 "chromosome 4q21 deletion syndrome" 1 7 0 0 0 1 MONDO:0005387 "primary ovarian failure" 1 12 0 0 0 0 MONDO:0020372 "early-onset sutural cataract" 0 3 0 0 0 0 @@ -42198,7 +42208,7 @@ MONDO:0006357 "parotid gland carcinoma ex pleomorphic adenoma" 1 4 0 0 0 1 MONDO:0016368 "Rothmund-Thomson syndrome type 1" 1 4 0 0 0 0 MONDO:0002293 "cutaneous ganglioneuroma" 1 4 0 0 0 0 MONDO:0018424 "inherited lipoic acid biosynthesis defect" 1 3 0 0 0 1 -MONDO:0017449 "split hand" 1 3 0 0 0 0 +MONDO:0017449 "split hand" 1 2 0 0 0 0 http://identifiers.org/hgnc/9388 "PRKAR1A" 0 0 0 0 0 0 http://identifiers.org/hgnc/23230 "UBA5" 0 0 0 0 0 0 MONDO:0018435 "acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)" 1 3 0 0 0 0 @@ -42218,7 +42228,7 @@ CL:2000072 "adipose microvascular endothelial cell" 1 0 0 0 0 1 UBERON:0002427 "arm skin" 0 0 0 0 0 1 MONDO:0021531 "fibroma of lung" 1 3 0 0 0 1 MONDO:0004707 "anal canal carcinoma in situ" 1 7 0 0 0 1 -MONDO:0019139 "acquired hemophilia" 1 7 0 0 0 1 +MONDO:0019139 "acquired hemophilia" 1 6 0 0 0 1 CHEBI:25696 "organic anion" 1 0 0 0 0 0 CL:0000451 "dendritic cell" 1 3 0 0 0 0 MONDO:0003337 "acute hemorrhagic encephalitis" 1 3 0 0 0 1 @@ -42246,8 +42256,8 @@ MONDO:0010009 "obsolete SC phocomelia syndrome" 0 0 0 0 0 0 ENVO:09200011 "pressure of air" 1 0 0 0 0 1 MONDO:0015580 "distal monosomy 7q36" 1 3 0 0 0 0 MONDO:0005552 "ocular vascular disorder" 1 2 0 0 0 1 -MONDO:0001610 "acute dacryocystitis" 1 5 0 0 0 1 -MONDO:0015854 "supernumerary breasts" 0 3 0 0 0 0 +MONDO:0001610 "acute dacryocystitis" 1 4 0 0 0 1 +MONDO:0015854 "supernumerary breasts" 0 2 0 0 0 0 MONDO:0044638 "hypopharynx squamous cell carcinoma" 1 4 0 0 0 1 GO:0042368 "vitamin D biosynthetic process" 1 0 0 0 0 0 MONDO:0000597 "Munchausen by proxy" 1 4 0 0 0 0 @@ -42269,10 +42279,10 @@ UBERON:0002393 "pharyngotympanic tube" 0 0 0 0 0 0 MONDO:0003670 "posteroinferior myocardial infarction" 1 2 0 0 0 0 MONDO:0014684 "combined oxidative phosphorylation defect type 26" 1 5 0 0 0 1 UBERON:0007182 "muscle layer of infundibulum of uterine tube" 0 0 0 0 0 1 -MONDO:0013720 "complement component 4b deficiency" 1 5 0 0 0 1 -MONDO:0017376 "reactive arthritis" 1 21 0 0 0 0 +MONDO:0013720 "complement component 4b deficiency" 1 4 0 0 0 1 +MONDO:0017376 "reactive arthritis" 1 16 0 0 0 0 UBERON:0035649 "nerve of penis" 0 0 0 0 0 1 -MONDO:0001761 "favism" 1 6 0 0 0 0 +MONDO:0001761 "favism" 1 5 0 0 0 0 UBERON:0036146 "cardiopharyngeal field" 0 0 0 0 0 0 http://identifiers.org/hgnc/26113 "TCTN1" 0 0 0 0 0 0 MONDO:0008301 "Guttmacher syndrome" 1 8 0 0 0 0 @@ -42302,7 +42312,7 @@ CHEBI:52206 "biochemical role" 1 0 0 0 0 0 GO:1903706 "regulation of hemopoiesis" 1 0 0 0 0 1 MONDO:0016564 "progressive supranuclear palsy-progressive non-fluent aphasia syndrome" 1 3 0 0 0 0 MONDO:0005777 "granuloma inguinale" 1 9 0 0 0 0 -MONDO:0005789 "hepatitis D virus infection" 1 7 0 0 0 1 +MONDO:0005789 "hepatitis D virus infection" 1 6 0 0 0 1 UBERON:0004985 "mucosa of ejaculatory duct" 0 0 0 0 0 1 UBERON:0034696 "fold of peritoneum" 0 0 0 0 0 0 http://identifiers.org/hgnc/1940 "CHM" 0 0 0 0 0 0 @@ -42334,7 +42344,7 @@ MONDO:0020270 "obsolete pigmentation disorder with eye involvement" 0 2 0 0 0 0 MONDO:0007839 "Aase-Smith syndrome" 1 8 0 0 0 0 MONDO:0000866 "myoglobinuria" 0 8 0 0 0 0 MONDO:0010855 "short tarsus-absence of lower eyelashes syndrome" 1 7 0 0 0 0 -MONDO:0020283 "uveitis" 1 11 0 0 0 1 +MONDO:0020283 "uveitis" 1 10 0 0 0 1 MONDO:0004818 "obsolete benign neurilemmoma" 0 0 0 0 0 0 CHEBI:25558 "organonitrogen heterocyclic antibiotic" 0 0 0 0 0 0 MONDO:0019444 "Trichinellosis" 1 6 0 0 0 0 @@ -42362,7 +42372,7 @@ MONDO:0018454 "dysostosis of genetic origin" 1 1 0 0 0 1 MONDO:0006364 "peritoneal well differentiated papillary mesothelioma" 1 3 0 0 0 0 MONDO:0002318 "trachea leiomyoma" 1 5 0 0 0 1 GO:0002768 "immune response-regulating cell surface receptor signaling pathway" 1 0 0 0 0 0 -MONDO:0001302 "hypertensive heart disease" 1 8 0 0 0 1 +MONDO:0001302 "hypertensive heart disease" 1 6 0 0 0 1 MONDO:0015362 "autosomal dominant distal hereditary motor neuropathy" 1 4 0 0 0 1 MONDO:0018942 "macrophagic myofasciitis" 0 6 0 0 0 0 MONDO:0003252 "granular cell cancer" 1 6 0 0 0 1 @@ -42390,22 +42400,23 @@ MONDO:0023530 "kallikrein hypertension" 0 4 0 0 0 0 MONDO:0024618 "poliovirus infection" 1 2 0 0 0 1 http://identifiers.org/hgnc/812 "ATP2A2" 0 0 0 0 0 0 MONDO:0020330 "obsolete classic Hodgkin lymphoma, lymphocyte-depleted type" 0 0 0 0 0 0 -MONDO:0014799 "cataract 45" 1 4 0 0 0 1 +MONDO:0014799 "cataract 45" 1 3 0 0 0 1 MONDO:0013874 "glucocorticoid deficiency 4" 1 4 0 0 0 1 GO:0016620 "oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor" 1 0 0 0 0 0 MONDO:0017118 "obsolete syndrome with a cerebellar malformation as major feature" 0 2 0 0 0 0 -MONDO:0012421 "autosomal recessive nonsyndromic hearing loss 44" 1 5 0 0 0 1 +MONDO:0012421 "autosomal recessive nonsyndromic hearing loss 44" 1 4 0 0 0 1 ENVO:03000043 "material transformation process"@en 1 0 0 0 0 0 MONDO:0012580 "hereditary pulmonary alveolar proteinosis" 1 11 0 0 0 1 MONDO:0012069 "keratoconus 3" 0 3 0 0 0 0 MONDO:0010558 "choroideremia-deafness-obesity syndrome" 1 7 0 0 0 0 +MONDO:0009829 "obsolete pallidal degeneration, progressive, with retinitis pigmentosa" 0 3 0 0 0 0 MONDO:0044921 "atypical lymphoproliferative disorder" 0 3 0 0 0 0 NCBITaxon:39744 "Rubulavirus" 0 1 0 0 0 0 MONDO:0021783 "streptococcal sore throat" 1 5 0 0 0 1 CHEBI:35136 "iron protein" 0 0 0 0 0 0 NCBITaxon:1884637 "Cryptococcus gattii species complex" 0 1 0 0 0 0 MONDO:0012552 "multiple endocrine neoplasia type 4" 1 9 0 0 0 1 -MONDO:0006545 "erythema multiforme" 1 10 0 0 0 0 +MONDO:0006545 "erythema multiforme" 1 11 0 0 0 0 MONDO:0007168 "atelosteogenesis type III" 1 6 0 0 0 0 MONDO:0022575 "biliary hypoplasia" 1 1 0 0 0 0 http://identifiers.org/hgnc/25660 "TTC21B" 0 0 0 0 0 0 @@ -42417,7 +42428,7 @@ MONDO:0020710 "amnionitis" 1 4 0 0 0 1 MONDO:0004696 "larynx carcinoma in situ" 1 6 0 0 0 1 MONDO:0020605 "X-linked recessive disease" 1 1 0 0 0 1 HP:0031247 "Whooping cough" 1 0 0 0 0 0 -MONDO:0015570 "isolated congenital auditory ossicle malformation" 1 2 0 0 0 0 +MONDO:0015570 "isolated congenital auditory ossicle malformation" 1 1 0 0 0 0 GO:0044448 "obsolete cell cortex part" 1 0 0 0 0 0 UBERON:0012273 "periampullary region of duodenum" 0 0 0 0 0 0 MONDO:0011143 "cone-rod dystrophy 6" 1 5 0 0 0 1 @@ -42457,14 +42468,14 @@ MONDO:0012660 "susceptibility to visceral leishmaniasis, 2" 0 1 0 0 0 0 UBERON:0003481 "tail vein" 0 0 0 0 0 1 MONDO:0016316 "mucopolysaccharidosis type 2, attenuated form" 1 3 0 0 0 0 http://identifiers.org/hgnc/3180 "EDNRB" 0 0 0 0 0 0 -MONDO:0018905 "diffuse large B-cell lymphoma" 1 11 0 0 0 0 +MONDO:0018905 "diffuse large B-cell lymphoma" 1 10 0 0 0 0 UBERON:0004068 "medial nasal prominence" 0 0 0 0 0 0 CHEBI:57986 "riboflavin(1-)" 1 0 0 0 0 0 MONDO:0024293 "obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980" 0 1 0 0 0 0 CHR:9606-chr15q11-q13 "15q11-q13 (Human)" 0 0 0 0 0 0 MONDO:0010116 "thoracomelic dysplasia" 0 6 0 0 0 0 http://identifiers.org/hgnc/811 "ATP2A1" 0 0 0 0 0 0 -MONDO:0004673 "lower lip cancer" 1 5 0 0 0 1 +MONDO:0004673 "lower lip cancer" 1 4 0 0 0 1 MONDO:0013056 "developmental and epileptic encephalopathy, 39" 1 8 0 0 0 1 CL:1000449 "epithelial cell of nephron" 1 1 0 0 0 1 GO:0004634 "phosphopyruvate hydratase activity" 1 0 0 0 0 0 @@ -42476,11 +42487,11 @@ MONDO:0005528 "inborn vitamin metabolic disorder" 1 2 0 0 0 1 MONDO:0023111 "familial capillaro-venous leptomeningeal angiomatosis" 0 3 0 0 0 0 MONDO:0010867 "PARC syndrome" 1 6 0 0 0 0 UBERON:0013776 "skin of palmar/plantar part of autopod" 0 0 0 0 0 1 -MONDO:0006877 "oophoritis" 1 7 0 0 0 1 +MONDO:0006877 "oophoritis" 1 6 0 0 0 1 UBERON:0004356 "apical ectodermal ridge" 0 0 0 0 0 0 -MONDO:0001148 "iliac vein thrombophlebitis" 1 5 0 0 0 1 +MONDO:0001148 "iliac vein thrombophlebitis" 1 4 0 0 0 1 MONDO:0016231 "capillary malformation" 0 2 0 0 0 0 -MONDO:0004645 "cheek mucosa cancer" 1 6 0 0 0 1 +MONDO:0004645 "cheek mucosa cancer" 1 5 0 0 0 1 MONDO:0019757 "alobar holoprosencephaly" 1 6 0 0 0 0 UBERON:0003547 "brain meninx" 0 0 0 0 0 1 MONDO:0030472 "developmental and epileptic encephalopathy 98" 0 1 0 0 0 0 @@ -42494,7 +42505,7 @@ MONDO:0000463 "Ochoa syndrome" 1 9 0 0 0 0 MONDO:0012661 "susceptibility to visceral leishmaniasis, 3" 0 1 0 0 0 0 MONDO:0000208 "microcephaly, short stature, and impaired glucose metabolism 1" 0 2 0 0 0 0 MONDO:0017135 "olivopontocerebellar atrophy-deafness syndrome" 1 3 0 0 0 0 -MONDO:0004633 "Hodgkin's lymphoma, mixed cellularity" 1 9 0 0 0 0 +MONDO:0004633 "Hodgkin's lymphoma, mixed cellularity" 1 8 0 0 0 0 MONDO:0011066 "Charcot-Marie-Tooth disease type 4B1" 1 8 0 0 0 1 GO:0044445 "obsolete cytosolic part" 1 0 0 0 0 0 MONDO:0022504 "arthrogryposis spinal muscular atrophy" 0 1 0 0 0 0 @@ -42521,7 +42532,7 @@ MONDO:0032646 "congenital anomalies of kidney and urinary tract 3" 0 1 0 0 0 0 MONDO:0021826 "aerobic Actinomyces infection" 1 3 0 0 0 0 MONDO:0007463 "distal osteosclerosis" 0 3 0 0 0 0 MONDO:0009762 "nystagmus, congenital, autosomal recessive" 0 4 0 0 0 0 -MONDO:0007947 "Marfan syndrome" 1 15 0 0 0 0 +MONDO:0007947 "Marfan syndrome" 1 14 0 0 0 0 UBERON:0004228 "urinary bladder smooth muscle" 0 0 0 0 0 1 HP:0002905 "Hyperphosphatemia" 1 4 0 0 0 0 MONDO:0024665 "indeterminate sex and/or pseudohermaphroditism" 0 3 0 0 0 0 @@ -42542,7 +42553,7 @@ MONDO:0003645 "cavernous hemangioma of face" 1 5 0 0 0 1 MONDO:0019074 "bilateral acute depigmentation of the iris" 1 2 0 0 0 0 MONDO:0008525 "syringomyelia, isolated" 0 3 0 0 0 0 NCBITaxon:1913638 "Zoopagomycota" 0 2 0 0 0 0 -MONDO:0000995 "familial periodic paralysis" 1 7 0 0 0 1 +MONDO:0000995 "familial periodic paralysis" 1 6 0 0 0 1 MONDO:0008717 "acromesomelic dysplasia 2C, Hunter-Thompson type" 1 5 0 0 0 0 GO:0010629 "negative regulation of gene expression" 1 0 0 0 0 1 MONDO:0700033 "complete trisomy 13" 1 0 0 0 0 1 @@ -42550,7 +42561,7 @@ UBERON:0002134 "tricuspid valve" 0 0 0 0 0 1 MONDO:0033211 "diencephalic-mesencephalic junction dysplasia syndrome" 0 1 0 0 0 0 SO:0002122 "immunoglobulin_gene" 1 0 0 0 0 0 NCBITaxon:297308 "Ixodoidea" 0 1 0 0 0 0 -MONDO:0009295 "glycogen storage disease VII" 1 11 0 0 0 1 +MONDO:0009295 "glycogen storage disease VII" 1 10 0 0 0 1 GO:0046676 "negative regulation of insulin secretion" 1 0 0 0 0 1 MONDO:0016705 "angiocentric glioma" 1 6 0 0 0 0 MONDO:0020151 "obsolete rare palpebral disease" 1 1 0 0 0 0 @@ -42586,15 +42597,15 @@ GO:0060453 "regulation of gastric acid secretion" 1 0 0 0 0 1 UBERON:0005028 "mucosa of maxillary sinus" 0 0 0 0 0 1 NCBITaxon:36830 "Clostridium botulinum E" 0 1 0 0 0 0 NCBITaxon:36831 "Clostridium botulinum F" 0 2 0 0 0 0 -MONDO:0001653 "prepuce cancer" 1 5 0 0 0 1 +MONDO:0001653 "prepuce cancer" 1 4 0 0 0 1 MONDO:0016993 "generalized peeling skin syndrome type C" 0 3 0 0 0 0 http://identifiers.org/hgnc/11957 "MED12" 0 0 0 0 0 0 MONDO:0009350 "Holzgreve-Wagner-Rehder syndrome" 1 7 0 0 0 0 MONDO:0008444 "spastic paraplegia, optic atrophy, and dementia" 0 3 0 0 0 0 MONDO:0019420 "X-linked intellectual disability, Pai type" 1 4 0 0 0 0 MONDO:0016437 "late-onset focal dermal elastosis" 1 1 0 0 0 0 -MONDO:0005769 "geniculate herpes zoster" 1 9 0 0 0 0 -MONDO:0005749 "eosinophilic pneumonia" 1 5 0 0 0 0 +MONDO:0005769 "geniculate herpes zoster" 1 8 0 0 0 0 +MONDO:0005749 "eosinophilic pneumonia" 1 4 0 0 0 0 MONDO:0011327 "neuronal intranuclear inclusion disease" 1 8 0 0 0 0 CHEBI:76736 "EC 1.9.* (oxidoreductase acting on donor heme group) inhibitor" 1 0 0 0 0 0 ECTO:9001334 "exposure to primary alcohol" 1 0 0 0 0 1 @@ -42619,7 +42630,7 @@ MONDO:0015784 "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 MONDO:0006880 "oral leukoedema" 1 7 0 0 0 0 GO:0102175 "3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity" 1 0 0 0 0 0 http://identifiers.org/hgnc/8803 "PDGFRA" 0 0 0 0 0 0 -MONDO:0004992 "cancer" 1 17 0 0 0 1 +MONDO:0004992 "cancer" 1 16 0 0 0 1 UBERON:0003978 "valve" 0 0 0 0 0 0 http://identifiers.org/hgnc/4400 "GNB3" 0 0 0 0 0 0 MONDO:0018608 "pure autonomic failure" 1 8 0 0 0 0 @@ -42646,22 +42657,22 @@ MONDO:0017285 "penoscrotal transposition" 1 9 0 0 0 0 GO:0032224 "positive regulation of synaptic transmission, cholinergic" 1 0 0 0 0 1 MONDO:0019174 "obsolete infantile Refsum disease" 1 17 0 0 0 0 MONDO:0004690 "tonsillar fossa cancer" 1 5 0 0 0 1 -MONDO:0014853 "autosomal dominant nonsyndromic hearing loss 70" 1 4 0 0 0 1 -MONDO:0000950 "asthenopia" 1 4 0 0 0 0 +MONDO:0014853 "autosomal dominant nonsyndromic hearing loss 70" 1 3 0 0 0 1 +MONDO:0000950 "asthenopia" 1 3 0 0 0 0 MONDO:0015321 "obsolete Pierre Robin syndrome associated with branchial archs anomalies" 0 0 0 0 0 0 MONDO:0014456 "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency" 0 4 0 0 0 1 GO:0045542 "positive regulation of cholesterol biosynthetic process" 1 0 0 0 0 1 GO:0009087 "methionine catabolic process" 1 0 0 0 0 0 MONDO:0016803 "unspecified inborn mitochondrial disorder" 0 2 0 0 0 0 CHEBI:24531 "heterocyclic antibiotic" 0 0 0 0 0 0 -MONDO:0013421 "type II complement component 8 deficiency" 1 7 0 0 0 1 +MONDO:0013421 "type II complement component 8 deficiency" 1 6 0 0 0 1 http://identifiers.org/hgnc/11786 "THBS2" 0 0 0 0 0 0 NCBITaxon:513040 "Dioctophymatidae" 0 1 0 0 0 0 MONDO:0019830 "congenital anomaly of the inferior vena cava" 0 4 0 0 0 0 UBERON:0003846 "thymus epithelium" 0 0 0 0 0 1 MONDO:0017413 "Reunion island Larsen syndrome" 0 4 0 0 0 0 -MONDO:0018493 "malignant hyperthermia of anesthesia" 1 17 0 0 0 0 -MONDO:0005571 "polycythemia" 1 9 0 0 0 0 +MONDO:0018493 "malignant hyperthermia of anesthesia" 1 16 0 0 0 0 +MONDO:0005571 "polycythemia" 1 8 0 0 0 0 MONDO:0006250 "ileal neuroendocrine tumor G1" 1 5 0 0 0 1 ENVO:01000637 "outer space"@en 1 0 0 0 0 0 CL:2000069 "gallbladder fibroblast" 1 0 0 0 0 1 @@ -42672,7 +42683,7 @@ UBERON:0004493 "cardiac muscle tissue of myocardium" 0 0 0 0 0 1 CL:0000177 "testosterone secreting cell" 0 0 0 0 0 1 MONDO:0044983 "benign lipomatous neoplasm" 1 1 0 0 0 1 MONDO:0000288 "polycystic echinococcosis" 0 1 0 0 0 1 -MONDO:0014768 "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" 1 4 0 0 0 1 +MONDO:0014768 "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" 1 3 0 0 0 1 CL:0002275 "pancreatic PP cell" 1 2 0 0 0 1 MONDO:0009333 "mullerian derivatives-lymphangiectasia-polydactyly syndrome" 1 5 0 0 0 0 http://identifiers.org/hgnc/8124 "OGDH" 0 0 0 0 0 0 @@ -42690,7 +42701,7 @@ MONDO:0032924 "ciliary dyskinesia, primary, 45" 0 1 0 0 0 0 http://identifiers.org/hgnc/30778 "GATAD2B" 0 0 0 0 0 0 MONDO:0045045 "selective IgG immunodeficiency" 1 4 0 0 0 0 MONDO:0001645 "crescentic glomerulonephritis" 1 5 0 0 0 0 -MONDO:0002970 "ciliary body disorder" 1 4 0 0 0 1 +MONDO:0002970 "ciliary body disorder" 1 5 0 0 0 1 http://identifiers.org/hgnc/28018 "NIPAL4" 0 0 0 0 0 0 NCBITaxon:2560076 "Orthoparamyxovirinae" 0 1 0 0 0 0 UBERON:0015873 "heel skin" 0 0 0 0 0 1 @@ -42739,14 +42750,14 @@ MONDO:0012074 "mandibuloacral dysplasia with type B lipodystrophy" 0 7 0 0 0 0 MONDO:0000452 "progressive relapsing multiple sclerosis" 1 4 0 0 0 0 MONDO:0006115 "blast phase chronic myelogenous leukemia, BCR-ABL1 positive" 1 5 0 0 0 0 MONDO:0030333 "immunodeficiency 84" 0 1 0 0 0 0 -MONDO:0005541 "spondylolysis" 1 10 0 0 0 0 +MONDO:0005541 "spondylolysis" 1 7 0 0 0 0 MONDO:0021017 "synaptopathy" 1 0 0 0 0 1 HP:0002637 "Cerebral ischemia" 0 5 0 0 0 0 MONDO:0021276 "papilloma of buccal mucosa" 1 4 0 0 0 1 MONDO:0004954 "obsolete malt lymphoma" 0 0 0 0 0 0 IAO:0000078 "curation status specification"@en 1 0 0 0 0 1 CL:0000556 "megakaryocyte" 1 3 0 0 0 1 -MONDO:0011137 "retinitis pigmentosa 19" 1 7 0 0 0 1 +MONDO:0011137 "retinitis pigmentosa 19" 1 6 0 0 0 1 UBERON:8410041 "venule of lymph node" 0 0 0 0 0 1 MONDO:0100326 "Glanzmann thrombasthenia" 0 2 0 0 0 0 MONDO:0009370 "L-2-hydroxyglutaric aciduria" 1 8 0 0 0 0 @@ -42776,10 +42787,10 @@ MONDO:0013786 "cone-rod dystrophy 16" 1 3 0 0 0 1 MONDO:0008018 "Muir-Torre syndrome" 1 10 0 0 0 0 http://identifiers.org/hgnc/7097 "MIF" 0 0 0 0 0 0 NCBITaxon:2 "Bacteria" 0 26 0 0 0 0 -MONDO:0001416 "female reproductive organ cancer" 1 7 0 0 0 1 +MONDO:0001416 "female reproductive organ cancer" 1 6 0 0 0 1 http://identifiers.org/hgnc/22140 "FAM20C" 0 0 0 0 0 0 MONDO:0100184 "GTP cyclohydrolase I deficiency" 1 0 0 0 0 0 -MONDO:0006995 "tethered spinal cord syndrome" 1 8 0 0 0 0 +MONDO:0006995 "tethered spinal cord syndrome" 1 6 0 0 0 0 MONDO:0018286 "obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature" 0 1 0 0 0 0 MONDO:0019822 "arterial duct anomaly" 0 1 0 0 0 0 MONDO:0021160 "gonococcal cystitis" 1 2 0 0 0 1 @@ -42800,7 +42811,7 @@ UBERON:0009537 "vascular element of right lung" 0 0 0 0 0 1 MONDO:0013708 "intellectual disability, autosomal recessive 25" 0 2 0 0 0 0 UBERON:0002349 "myocardium" 0 0 0 0 0 1 http://identifiers.org/hgnc/10990 "SLC25A4" 0 0 0 0 0 0 -MONDO:0005420 "hypothyroidism" 1 7 0 0 0 0 +MONDO:0005420 "hypothyroidism" 1 6 0 0 0 0 MONDO:0013707 "intellectual disability, autosomal recessive 24" 0 2 0 0 0 0 CL:0000413 "haploid cell" 1 0 0 0 0 1 MONDO:0005401 "colonic neoplasm" 1 5 0 0 0 1 @@ -42821,7 +42832,7 @@ CHEBI:30089 "acetate" 1 0 0 0 0 0 GO:2000678 "negative regulation of transcription regulatory region DNA binding" 1 0 0 0 0 1 MONDO:0011385 "intervertebral disc degenerative disorder" 1 9 0 0 0 0 UBERON:0012175 "acoustico-facial VII-VIII ganglion complex" 0 0 0 0 0 0 -MONDO:0002186 "acute maxillary sinusitis" 1 6 0 0 0 1 +MONDO:0002186 "acute maxillary sinusitis" 1 5 0 0 0 1 GO:0043555 "regulation of translation in response to stress" 1 0 0 0 0 1 MONDO:0044784 "myxoma" 1 3 0 0 0 0 MONDO:0033622 "spermatogenic failure 44" 0 1 0 0 0 1 @@ -42862,6 +42873,7 @@ MONDO:0044280 "obsolete glycerol quantitative trait locus" 0 1 0 0 0 0 UBERON:0005397 "brain arachnoid mater" 0 0 0 0 0 1 MONDO:0009404 "hypertelorism, microtia, facial clefting syndrome" 1 8 0 0 0 0 MONDO:0005097 "squamous cell lung carcinoma" 1 7 0 0 0 1 +MONDO:0100487 "TPM4-related platelet disorder" 1 0 0 0 0 0 http://identifiers.org/hgnc/27962 "STING1" 0 0 0 0 0 0 UBERON:0010212 "laryngeal apparatus" 0 0 0 0 0 0 MONDO:0015860 "anomaly of puberty or/and menstrual cycle" 0 1 0 0 0 0 @@ -42902,10 +42914,10 @@ MONDO:0013706 "intellectual disability, autosomal recessive 23" 0 2 0 0 0 0 MONDO:0004551 "Meckel diverticulitis" 1 4 0 0 0 1 MONDO:0010850 "Tessier number 4 facial cleft" 0 4 0 0 0 0 UBERON:0001280 "liver parenchyma" 0 0 0 0 0 1 -MONDO:0024268 "superficial mycosis" 1 8 0 0 0 1 +MONDO:0024268 "superficial mycosis" 1 7 0 0 0 1 MONDO:0013702 "intellectual disability, autosomal recessive 27" 1 3 0 0 0 1 MONDO:0021443 "benign neoplasm of lymph node" 1 5 0 0 0 1 -MONDO:0004497 "tertiary syphilis" 1 11 0 0 0 0 +MONDO:0004497 "tertiary syphilis" 1 9 0 0 0 0 UBERON:0016553 "respiratory system mucus" 0 0 0 0 0 1 UBERON:0007490 "keratin-based acellular structure" 0 0 0 0 0 1 MONDO:0012875 "inflammatory bowel disease 21" 1 4 0 0 0 0 @@ -42919,12 +42931,12 @@ MONDO:0010585 "X-linked hypohidrotic ectodermal dysplasia" 1 6 0 0 0 1 http://identifiers.org/hgnc/17893 "PGAP2" 0 0 0 0 0 0 MONDO:0000435 "obsolete splenic marginal zone lymphoma" 0 0 0 0 0 0 http://identifiers.org/hgnc/3179 "EDNRA" 0 0 0 0 0 0 -MONDO:0001629 "Jaccoud syndrome" 0 6 0 0 0 0 +MONDO:0001629 "Jaccoud syndrome" 0 4 0 0 0 0 MONDO:0018826 "Lewis-Sumner syndrome" 1 5 0 0 0 0 MONDO:0000862 "obsolete reducing body myopathy" 0 0 0 0 0 0 UBERON:0001225 "cortex of kidney" 0 0 0 0 0 1 MONDO:0012082 "asperger syndrome, susceptibility to, 1" 0 2 0 0 0 0 -MONDO:0012420 "autosomal recessive nonsyndromic hearing loss 49" 1 6 0 0 0 1 +MONDO:0012420 "autosomal recessive nonsyndromic hearing loss 49" 1 5 0 0 0 1 MONDO:0008745 "oculocutaneous albinism type 1A" 1 7 0 0 0 1 MONDO:0008343 "pulmonary atresia with ventricular septal defect" 1 8 0 0 0 0 MONDO:0006232 "giant cell tumor of soft tissue" 1 4 0 0 0 0 @@ -42958,7 +42970,7 @@ HP:0025032 "Abnormality of digestive system physiology" 1 0 0 0 0 0 MONDO:0010474 "linear skin defects with multiple congenital anomalies 2" 1 3 0 0 0 1 UBERON:0014478 "rib skeletal system" 0 0 0 0 0 0 MONDO:0000508 "syndromic intellectual disability" 1 5 0 0 0 1 -MONDO:0010805 "bladder exstrophy" 1 12 0 0 0 0 +MONDO:0010805 "bladder exstrophy" 1 11 0 0 0 0 MONDO:0019293 "skin vascular disease" 1 8 0 0 0 1 GO:0070092 "regulation of glucagon secretion" 1 0 0 0 0 1 GO:0060467 "negative regulation of fertilization" 1 0 0 0 0 1 @@ -43003,7 +43015,7 @@ UBERON:0011120 "laryngeal joint" 0 0 0 0 0 1 MONDO:0020122 "acquired idiopathic inflammatory myopathy" 1 6 0 0 0 0 MONDO:0015956 "obsolete rare hereditary ataxia" 1 0 0 0 0 0 http://identifiers.org/hgnc/3694 "FGG" 0 0 0 0 0 0 -MONDO:0003155 "cavernous hemangioma" 1 10 0 0 0 0 +MONDO:0003155 "cavernous hemangioma" 1 9 0 0 0 0 MONDO:0015986 "bilateral renal agenesis" 1 4 0 0 0 0 CHEBI:35190 "diterpene" 1 0 0 0 0 0 UBERON:0000059 "large intestine" 0 0 0 0 0 0 @@ -43071,7 +43083,7 @@ MONDO:0007412 "Beare-Stevenson cutis gyrata syndrome" 1 10 0 0 0 0 MONDO:0022762 "chromosome 4 short arm deletion" 0 4 0 0 0 1 MONDO:0018440 "autosomal recessive distal renal tubular acidosis" 1 5 0 0 0 1 MONDO:0004793 "obsolete uterine corpus cancer" 0 0 0 0 0 0 -MONDO:0006952 "retinopathy of prematurity" 1 15 0 0 0 0 +MONDO:0006952 "retinopathy of prematurity" 1 12 0 0 0 0 MONDO:0036688 "rhabdomyoma" 1 5 0 0 0 0 UBERON:0006175 "pronephric distal tubule" 0 0 0 0 0 1 MONDO:0015093 "sub-cortical nodular heterotopia" 0 2 0 0 0 0 @@ -43082,7 +43094,7 @@ MONDO:0020044 "autosomal recessive metabolic cerebellar ataxia" 0 2 0 0 0 0 http://identifiers.org/hgnc/2418 "CRYM" 0 0 0 0 0 0 BFO:0000016 "disposition"@en 0 0 0 0 0 0 MONDO:0005590 "breast ductal adenocarcinoma" 1 4 0 0 0 1 -MONDO:0004247 "peptic ulcer disease" 1 7 0 0 0 0 +MONDO:0004247 "peptic ulcer disease" 1 6 0 0 0 0 MONDO:0003397 "gingival hypertrophy" 1 4 0 0 0 0 MONDO:0010650 "Melnick-Needles syndrome" 1 9 0 0 0 0 UBERON:0002078 "right cardiac atrium" 0 0 0 0 0 1 @@ -43110,7 +43122,7 @@ NCBITaxon:6934 "Parasitiformes" 0 1 0 0 0 0 MONDO:0017158 "obsolete pulmonary hypertension with unclear multifactorial mechanism" 0 1 0 0 0 0 http://identifiers.org/hgnc/29683 "SLC25A32" 0 0 0 0 0 0 MONDO:0016746 "meningeal melanocytoma" 1 7 0 0 0 0 -MONDO:0014436 "Bardet-Biedl syndrome 8" 1 7 0 0 0 1 +MONDO:0014436 "Bardet-Biedl syndrome 8" 1 6 0 0 0 1 HP:0012323 "Sleep myoclonus" 1 3 0 0 0 0 ECTO:9002062 "exposure to food propellant" 1 0 0 0 0 1 MONDO:0011713 "melanoma-pancreatic cancer syndrome" 0 2 0 0 0 0 @@ -43119,7 +43131,7 @@ http://identifiers.org/hgnc/12469 "UBA1" 0 0 0 0 0 0 MONDO:0021667 "neuralgia" 1 3 0 0 0 1 CL:0002601 "uterine smooth muscle cell" 1 0 0 0 0 1 MONDO:0017995 "spondylocostal dysostosis-hypospadias-intellectual disability syndrome" 0 2 0 0 0 0 -MONDO:0002974 "cervical cancer" 1 11 0 0 0 1 +MONDO:0002974 "cervical cancer" 1 9 0 0 0 1 MONDO:0009684 "muscular hypertonia, lethal" 0 3 0 0 0 0 GO:0033365 "protein localization to organelle" 1 0 0 0 0 0 CHEBI:50906 "role" 1 0 0 0 0 0 @@ -43142,10 +43154,10 @@ MONDO:0044720 "cerebellar ataxia with neuropathy and bilateral vestibular arefle MONDO:0005675 "border disease" 1 3 0 0 0 0 MONDO:0014168 "severe combined immunodeficiency due to CORO1A deficiency" 0 5 0 0 0 0 MONDO:0019093 "immunodeficiency due to selective anti-polysaccharide antibody deficiency" 1 5 0 0 0 0 -MONDO:0005864 "muscle cancer" 1 9 0 0 0 1 +MONDO:0005864 "muscle cancer" 1 8 0 0 0 1 GO:0099571 "postsynaptic cytoskeleton" 1 0 0 0 0 1 MONDO:0001083 "Fanconi renotubular syndrome" 1 7 0 0 0 0 -MONDO:0014437 "Bardet-Biedl syndrome 9" 1 8 0 0 0 1 +MONDO:0014437 "Bardet-Biedl syndrome 9" 1 7 0 0 0 1 MONDO:0032881 "premature ovarian failure 16" 0 1 0 0 0 0 MONDO:0030475 "heterotaxy, visceral, 11, autosomal, with male infertility" 0 1 0 0 0 0 CL:0010020 "cardiac glial cell" 0 0 0 0 0 1 @@ -43165,7 +43177,8 @@ MONDO:0020031 "obsolete rare tumor" 1 1 0 0 0 0 UBERON:0001793 "nerve fiber layer of retina" 0 0 0 0 0 0 NCBITaxon:574145 "Demodex brevis" 0 1 0 0 0 0 UBERON:0002056 "inferior suprarenal artery" 0 0 0 0 0 1 -MONDO:0006712 "corneal edema" 1 10 0 0 0 0 +MONDO:0006712 "corneal edema" 1 9 0 0 0 0 +MONDO:0044988 "obsolete hip region disorder" 1 2 0 0 0 0 MONDO:0002375 "sebaceous adenoma" 1 4 0 0 0 1 MONDO:0017458 "obsolete postaxial polydactyly of toes" 0 4 0 0 0 0 UBERON:0009482 "associated mesenchyme of foregut-midgut junction" 0 0 0 0 0 1 @@ -43177,7 +43190,7 @@ UBERON:0004852 "cardiovascular system endothelium" 0 0 0 0 0 1 MONDO:0017053 "intermittent maple syrup urine disease" 1 4 0 0 0 0 GO:1902624 "positive regulation of neutrophil migration" 1 0 0 0 0 1 MONDO:0009362 "growth delay-hydrocephaly-lung hypoplasia syndrome" 1 7 0 0 0 0 -MONDO:0010091 "Cold-induced sweating syndrome 1" 1 8 0 0 0 0 +MONDO:0010091 "Cold-induced sweating syndrome 1" 1 9 0 0 0 0 ENVO:01000242 "desert scrubland" 1 0 0 0 0 1 NCBITaxon:5125 "Hypocreales" 0 1 0 0 0 0 UBERON:0005426 "lens vesicle" 0 0 0 0 0 0 @@ -43186,7 +43199,7 @@ MONDO:0005695 "central nervous system AIDS arteritis" 1 5 0 0 0 0 CHEBI:140499 "kaolinite" 1 0 0 0 0 0 UBERON:0005357 "brain ependyma" 0 0 0 0 0 1 http://identifiers.org/hgnc/29284 "DIP2B" 0 0 0 0 0 0 -MONDO:0001717 "posterior corneal pigmentation" 0 5 0 0 0 0 +MONDO:0001717 "posterior corneal pigmentation" 0 4 0 0 0 0 MONDO:0008875 "blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome" 1 6 0 0 0 0 MONDO:0007706 "cavernous hemangiomas of face-supraumbilical midline raphe syndrome" 0 7 0 0 0 0 MONDO:0018287 "obsolete congenital disorder of glycosylation with epilepsy as a major feature" 0 1 0 0 0 0 @@ -43195,23 +43208,23 @@ ENVO:01001057 "environment associated with a plant part or small plant"@en 1 0 0 GO:0033342 "negative regulation of collagen binding" 1 0 0 0 0 1 NCBITaxon:33833 "Vestibuliferida" 0 1 0 0 0 0 MONDO:0008621 "uncombable hair syndrome" 1 9 0 0 0 0 -MONDO:0004054 "acute canaliculitis" 0 5 0 0 0 0 +MONDO:0004054 "acute canaliculitis" 0 4 0 0 0 0 NCBITaxon:6181 "Schistosoma" 0 1 0 0 0 0 UBERON:0008819 "inferior mediastinum" 0 0 0 0 0 0 CHEBI:33543 "sulfonate" 1 0 0 0 0 0 MONDO:0000118 "reticulate pigment disorder" 0 1 0 0 0 0 MONDO:0006228 "gastric papillary adenocarcinoma" 1 5 0 0 0 1 -MONDO:0014093 "retinitis pigmentosa 66" 1 5 0 0 0 1 -MONDO:0009889 "autosomal recessive polycystic kidney disease" 1 9 0 0 0 1 +MONDO:0014093 "retinitis pigmentosa 66" 1 4 0 0 0 1 +MONDO:0009889 "autosomal recessive polycystic kidney disease" 1 8 0 0 0 1 MONDO:0044768 "vagus nerve paraganglioma" 1 5 0 0 0 1 -MONDO:0004632 "obsolete Hodgkin's granuloma" 1 26 0 0 0 0 +MONDO:0004632 "obsolete Hodgkin's granuloma" 1 20 0 0 0 0 NCBITaxon:555280 "Discosea" 0 1 0 0 0 0 UBERON:0011119 "carpometacarpal joint" 0 0 0 0 0 1 MONDO:0019514 "hepatic veno-occlusive disease" 1 10 0 0 0 0 MONDO:0004788 "cervix squamous papilloma" 1 3 0 0 0 1 UBERON:0019042 "reproductive system mucosa" 0 0 0 0 0 1 MONDO:0044282 "obsolete blood group, vel system" 1 1 0 0 0 0 -MONDO:0008082 "multiple endocrine neoplasia type 2B" 1 14 0 0 0 1 +MONDO:0008082 "multiple endocrine neoplasia type 2B" 1 13 0 0 0 1 MONDO:0011426 "aceruloplasminemia" 1 7 0 0 0 0 GO:0030100 "regulation of endocytosis" 1 0 0 0 0 1 HP:0009804 "Tooth agenesis" 1 2 0 0 0 0 @@ -43222,9 +43235,9 @@ MONDO:0700030 "complete trisomy 21" 1 0 0 0 0 1 MONDO:0000212 "hypercalcemia, infantile" 1 11 0 0 0 1 ENVO:01000888 "area of gramanoid or herbaceous vegetation"@en 1 0 0 0 0 0 MONDO:0003398 "anterograde amnesia" 1 3 0 0 0 0 -MONDO:0001799 "localized anterior staphyloma" 0 5 0 0 0 0 +MONDO:0001799 "localized anterior staphyloma" 0 4 0 0 0 0 MONDO:0005727 "obsolete cystoisosporiasis" 0 0 0 0 0 0 -MONDO:0014435 "Bardet-Biedl syndrome 7" 1 8 0 0 0 1 +MONDO:0014435 "Bardet-Biedl syndrome 7" 1 7 0 0 0 1 UBERON:0003417 "mesenchyme of soft palate" 0 0 0 0 0 1 http://identifiers.org/hgnc/6354 "KLHL3" 0 0 0 0 0 0 MONDO:0020566 "obsolete Klatskin tumor" 0 0 0 0 0 0 @@ -43233,11 +43246,11 @@ MONDO:0000931 "endometrial disorder" 1 3 0 0 0 1 MONDO:0002898 "skin cancer" 1 9 0 0 0 1 MONDO:0009419 "Woodhouse-Sakati syndrome" 1 8 0 0 0 0 GO:0019098 "reproductive behavior" 1 0 0 0 0 1 -MONDO:0014432 "Bardet-Biedl syndrome 2" 1 8 0 0 0 1 +MONDO:0014432 "Bardet-Biedl syndrome 2" 1 7 0 0 0 1 MONDO:0030438 "pontocerebellar hypoplasia, type 16" 0 1 0 0 0 0 UBERON:0002361 "pia mater" 0 0 0 0 0 0 MONDO:0002301 "frontal sinus squamous cell carcinoma" 1 4 0 0 0 1 -MONDO:0018019 "lead poisoning" 1 6 0 0 0 0 +MONDO:0018019 "lead poisoning" 1 5 0 0 0 0 UBERON:0005221 "liver right lobe parenchyma" 0 0 0 0 0 1 GO:0070857 "regulation of bile acid biosynthetic process" 1 0 0 0 0 1 MONDO:0017417 "renal-hepatic-pancreatic dysplasia" 1 7 0 0 0 0 @@ -43249,11 +43262,11 @@ UBERON:0010675 "manual digit 1 phalanx cartilage element" 0 0 0 0 0 1 UBERON:0002341 "epithelium of segmental bronchus" 0 0 0 0 0 1 MONDO:0008300 "Prader-Willi syndrome" 1 12 0 0 0 0 UBERON:0003585 "dermis connective tissue" 0 0 0 0 0 1 -MONDO:0001437 "pulmonary alveolar proteinosis" 1 14 0 0 0 0 +MONDO:0001437 "pulmonary alveolar proteinosis" 1 13 0 0 0 0 MONDO:0013117 "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5" 1 5 0 0 0 1 MONDO:0016688 "fibrillary astrocytoma" 1 8 0 0 0 0 CHEBI:48376 "carbamimidic acid" 0 0 0 0 0 0 -MONDO:0001035 "hypopyon ulcer" 0 5 0 0 0 0 +MONDO:0001035 "hypopyon ulcer" 0 4 0 0 0 0 ENVO:09000014 "amount of nitrogen atom in soil" 1 0 0 0 0 1 GO:0031947 "negative regulation of glucocorticoid biosynthetic process" 1 0 0 0 0 1 NCBITaxon:56212 "Calomys musculinus" 0 1 0 0 0 0 @@ -43275,7 +43288,7 @@ UBERON:0003692 "acromioclavicular joint" 0 0 0 0 0 1 MONDO:0009025 "apparent mineralocorticoid excess" 1 11 0 0 0 0 MONDO:0009655 "Sanfilippo syndrome type A" 1 10 0 0 0 0 MONDO:0009658 "Sanfilippo syndrome type D" 1 9 0 0 0 0 -MONDO:0004872 "hemorrhoid" 1 8 0 0 0 0 +MONDO:0004872 "hemorrhoid" 1 7 0 0 0 0 http://identifiers.org/hgnc/15977 "HES7" 0 0 0 0 0 0 http://identifiers.org/hgnc/25033 "LRTOMT" 0 0 0 0 0 0 CHEBI:48560 "dopaminergic agent" 1 0 0 0 0 0 @@ -43287,25 +43300,25 @@ MONDO:0002191 "syringoma" 1 7 0 0 0 0 MONDO:0006862 "myofascial pain syndrome" 1 7 0 0 0 0 MONDO:0009564 "Marden-Walker syndrome" 1 7 0 0 0 0 MONDO:0016771 "annular atrophic lichen planus" 1 5 0 0 0 0 -MONDO:0008978 "chordoma" 1 12 0 0 0 0 +MONDO:0008978 "chordoma" 1 11 0 0 0 0 MONDO:0008287 "Greig cephalopolysyndactyly syndrome" 1 10 0 0 0 0 UBERON:0035642 "laryngeal nerve" 0 0 0 0 0 1 UBERON:0001509 "triceps brachii" 0 0 0 0 0 0 -MONDO:0014434 "Bardet-Biedl syndrome 5" 1 7 0 0 0 1 +MONDO:0014434 "Bardet-Biedl syndrome 5" 1 6 0 0 0 1 MONDO:0004321 "endometrial mixed adenocarcinoma" 1 3 0 0 0 0 -MONDO:0011168 "type 1 diabetes mellitus 10" 1 5 0 0 0 1 +MONDO:0011168 "type 1 diabetes mellitus 10" 1 4 0 0 0 1 UBERON:0010152 "skin mucus" 0 0 0 0 0 1 MONDO:0016389 "obsolete lymphoma" 0 0 0 0 0 0 http://identifiers.org/hgnc/8108 "OCRL" 0 0 0 0 0 0 -MONDO:0014433 "Bardet-Biedl syndrome 4" 0 9 0 0 0 0 +MONDO:0014433 "Bardet-Biedl syndrome 4" 0 8 0 0 0 0 MONDO:0014716 "macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome" 0 4 0 0 0 0 -MONDO:0006864 "necrotizing sialometaplasia" 1 8 0 0 0 0 +MONDO:0006864 "necrotizing sialometaplasia" 1 7 0 0 0 0 GO:0080135 "regulation of cellular response to stress" 1 0 0 0 0 1 GO:0016068 "type I hypersensitivity" 1 0 0 0 0 0 MONDO:0019832 "acquired pituitary hormone deficiency" 1 2 0 0 0 1 MONDO:0004366 "mixed astrocytoma-ependymoma-oligodendroglioma" 1 3 0 0 0 0 UBERON:0000956 "cerebral cortex" 0 0 0 0 0 0 -MONDO:0002164 "focal chorioretinitis" 0 7 0 0 0 0 +MONDO:0002164 "focal chorioretinitis" 0 5 0 0 0 0 MONDO:0015999 "primary pigmented nodular adrenocortical disease" 1 16 0 0 0 0 http://identifiers.org/hgnc/18969 "IL31RA" 0 0 0 0 0 0 MONDO:0007338 "cleft soft palate" 1 6 0 0 0 0 @@ -43326,7 +43339,7 @@ MONDO:0002862 "bile duct sarcoma" 1 1 0 0 0 1 NCIT:C36292 "Laboratory Test Result" 0 0 0 0 0 0 MONDO:0009761 "cystic hygroma" 1 11 0 0 0 0 MONDO:0002957 "sarcomatoid basal cell carcinoma" 0 3 0 0 0 0 -MONDO:0007336 "isolated cleft palate" 1 10 0 0 0 1 +MONDO:0007336 "isolated cleft palate" 1 7 0 0 0 1 MONDO:0032785 "polydactyly, postaxial, type a10" 0 1 0 0 0 0 MONDO:0003853 "Bartholin gland adenocarcinoma" 1 3 0 0 0 1 UBERON:0009669 "embryonic cloacal lumen" 0 0 0 0 0 1 @@ -43335,7 +43348,7 @@ CL:1000279 "smooth muscle cell of large intestine" 1 1 0 0 0 1 MONDO:0010941 "nocturnal enuresis, 2" 1 3 0 0 0 0 GO:0008080 "N-acetyltransferase activity" 1 0 0 0 0 0 UBERON:0003124 "chorion membrane" 0 0 0 0 0 0 -MONDO:0001945 "postencephalitic Parkinson disease" 1 8 0 0 0 0 +MONDO:0001945 "postencephalitic Parkinson disease" 1 7 0 0 0 0 MONDO:0020423 "stenosis or atrophy of the coronary ostium" 0 2 0 0 0 0 CL:1000505 "kidney pelvis cell" 0 1 0 0 0 1 MONDO:0016539 "atypical hypotonia-cystinuria syndrome" 1 4 0 0 0 0 @@ -43384,7 +43397,7 @@ MONDO:0014154 "Charcot-Marie-Tooth disease recessive intermediate C" 1 5 0 0 0 1 UBERON:0001421 "pectoral girdle region" 0 0 0 0 0 1 MONDO:0009875 "achromatopsia 3" 1 5 0 0 0 1 HP:0000006 "Autosomal dominant inheritance" 1 2 0 0 0 0 -MONDO:0001857 "Brucella canis brucellosis" 1 5 0 0 0 1 +MONDO:0001857 "Brucella canis brucellosis" 1 4 0 0 0 1 GO:0048193 "Golgi vesicle transport" 1 0 0 0 0 0 MONDO:0012754 "nanophthalmos 3" 0 4 0 0 0 0 MONDO:0022892 "craniosynostosis alopecia brain defect" 0 1 0 0 0 0 @@ -43407,7 +43420,7 @@ GO:0016127 "sterol catabolic process" 1 0 0 0 0 0 UBERON:0010336 "mandibular process mesenchyme from neural crest" 0 0 0 0 0 1 MONDO:0027048 "deafness, Y-linked 2" 0 2 0 0 0 0 MONDO:0000428 "Y-linked disease" 1 3 0 0 0 1 -MONDO:0005240 "kidney disorder" 1 9 0 0 0 1 +MONDO:0005240 "kidney disorder" 1 8 0 0 0 1 MONDO:0007948 "marfanoid hypermobility syndrome" 0 4 0 0 0 0 MONDO:0009086 "deafness-small bowel diverticulosis-neuropathy syndrome" 1 6 0 0 0 0 GO:0051058 "negative regulation of small GTPase mediated signal transduction" 1 0 0 0 0 1 @@ -43420,17 +43433,18 @@ http://identifiers.org/hgnc/8877 "PFKM" 0 0 0 0 0 0 CHR:9606-chr4p1 "4p1 (Human)" 0 0 0 0 0 0 CHR:9606-chr5q "5q (Human)" 0 0 0 0 0 0 GO:1901860 "positive regulation of mitochondrial DNA metabolic process" 1 0 0 0 0 1 +MONDO:0007823 "obsolete insulin receptors, familial increase 1N" 0 1 0 0 0 0 NCBITaxon:11572 "Orthobunyavirus" 0 1 0 0 0 0 MONDO:0011613 "autosomal recessive early-onset Parkinson disease 6" 1 4 0 0 0 1 -MONDO:0014032 "brachydactyly type A1C" 1 4 0 0 0 1 +MONDO:0014032 "brachydactyly type A1C" 1 4 0 0 0 0 NCBITaxon:69773 "Penicillium glabrum" 0 1 0 0 0 0 NCBITaxon:6296 "Onchocercidae" 0 1 0 0 0 0 MONDO:0004887 "obsolete polyarteritis nodosa" 0 0 0 0 0 0 -MONDO:0018223 "systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood" 1 8 0 0 0 0 +MONDO:0018223 "systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood" 1 7 0 0 0 0 UBERON:0001383 "muscle of leg" 0 0 0 0 0 1 -MONDO:0005300 "chronic kidney disease" 1 13 0 0 0 1 +MONDO:0005300 "chronic kidney disease" 1 14 0 0 0 1 UBERON:0006518 "right lung lobe" 0 0 0 0 0 1 -MONDO:0012444 "neurodegeneration with brain iron accumulation 2B" 0 5 0 0 0 0 +MONDO:0012444 "neurodegeneration with brain iron accumulation 2B" 0 4 0 0 0 0 MONDO:0005309 "spinal fracture" 1 4 0 0 0 1 FOODON:00001118 "cattle dairy food product"@en 0 0 0 0 0 0 MONDO:0032914 "ciliary dyskinesia, primary, 44" 0 1 0 0 0 0 @@ -43452,8 +43466,8 @@ CL:0000667 "collagen secreting cell" 1 0 0 0 0 0 GO:1905039 "carboxylic acid transmembrane transport" 1 0 0 0 0 0 MONDO:0019573 "autosomal recessive cutis laxa type 2" 1 2 0 0 0 0 MONDO:0018705 "infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome" 0 2 0 0 0 0 -MONDO:0009349 "holoprosencephaly 1" 1 7 0 0 0 0 -MONDO:0004893 "hypertropia" 1 6 0 0 0 0 +MONDO:0009349 "holoprosencephaly 1" 1 6 0 0 0 0 +MONDO:0004893 "hypertropia" 1 5 0 0 0 0 MONDO:0003992 "childhood botryoid rhabdomyosarcoma" 1 3 0 0 0 1 MONDO:0013704 "intellectual disability, autosomal recessive 30" 0 3 0 0 0 0 NCBITaxon:7174 "Culex " 0 1 0 0 0 0 @@ -43479,7 +43493,7 @@ MONDO:0002195 "vulvar squamous neoplasm" 1 3 0 0 0 1 http://identifiers.org/hgnc/10891 "SIX5" 0 0 0 0 0 0 UBERON:0003592 "bronchus connective tissue" 0 0 0 0 0 1 GO:0006629 "lipid metabolic process" 1 0 0 0 0 0 -MONDO:0009813 "chronic recurrent multifocal osteomyelitis" 1 10 0 0 0 0 +MONDO:0009813 "chronic recurrent multifocal osteomyelitis" 1 9 0 0 0 0 UBERON:0002352 "atrioventricular node" 0 0 0 0 0 0 MONDO:0017960 "obsolete CANDLE syndrome" 0 0 0 0 0 0 MONDO:0015000 "developmental and epileptic encephalopathy, 48" 1 3 0 0 0 1 @@ -43487,7 +43501,7 @@ CL:0000031 "neuroblast (sensu Vertebrata)" 1 2 0 0 0 0 MONDO:0024965 "muscular dystrophy, non-human animal" 0 2 0 0 0 0 MONDO:0009840 "Partington-Anderson syndrome" 0 5 0 0 0 0 MONDO:0016121 "congenital myotonia" 0 3 0 0 0 0 -MONDO:0005619 "typhoid fever" 1 11 0 0 0 0 +MONDO:0005619 "typhoid fever" 1 9 0 0 0 0 UBERON:0036304 "anatomical border" 0 0 0 0 0 0 CL:1000849 "kidney distal convoluted tubule epithelial cell" 0 1 0 0 0 1 MONDO:0014239 "testicular anomalies with or without congenital heart disease" 0 3 0 0 0 0 @@ -43497,7 +43511,7 @@ MONDO:0019014 "obsolete mutilating palmoplantar keratoderma with periorificial k GO:0051245 "negative regulation of cellular defense response" 1 0 0 0 0 1 UBERON:0001255 "urinary bladder" 0 0 0 0 0 0 GO:0045641 "negative regulation of basophil differentiation" 1 0 0 0 0 1 -MONDO:0012908 "complement component 6 deficiency" 1 5 0 0 0 1 +MONDO:0012908 "complement component 6 deficiency" 1 4 0 0 0 1 UBERON:0001970 "bile" 0 0 0 0 0 1 MONDO:0032915 "long QT syndrome 16" 0 1 0 0 0 0 MONDO:0002777 "obsolete pleural empyema" 0 0 0 0 0 0 @@ -43567,7 +43581,7 @@ MONDO:0012116 "spinocerebellar ataxia type 8" 1 8 0 0 0 0 UBERON:0006603 "presumptive mesoderm" 0 0 0 0 0 1 MONDO:0014083 "agammaglobulinemia 7, autosomal recessive" 1 4 0 0 0 1 MONDO:0019863 "obsolete acro-renal-ocular syndrome" 0 0 0 0 0 0 -MONDO:0004390 "ocular hypotension" 1 8 0 0 0 0 +MONDO:0004390 "ocular hypotension" 1 6 0 0 0 0 GO:0006096 "glycolytic process" 1 0 0 0 0 0 MONDO:0014992 "lissencephaly 8" 1 2 0 0 0 1 MONDO:0019902 "monosomy 13q34" 1 3 0 0 0 1 @@ -43576,11 +43590,11 @@ GO:0016491 "oxidoreductase activity" 1 0 0 0 0 0 MONDO:0003816 "articular cartilage disorder" 1 6 0 0 0 1 MONDO:0000490 "glomerulosclerosis" 1 4 0 0 0 0 MONDO:0015940 "obsolete rare rheumatologic disease" 1 2 0 0 0 0 -MONDO:0018960 "congenital primary megaureter" 1 5 0 0 0 0 +MONDO:0018960 "congenital primary megaureter" 1 4 0 0 0 0 MONDO:0008317 "proteolytic capacity of plasma" 0 1 0 0 0 0 HP:0008066 "Abnormal blistering of the skin" 1 3 0 0 0 0 MONDO:0033551 "immunodeficiency 72 with autoinflammation" 0 1 0 0 0 0 -MONDO:0001232 "orbital osteomyelitis" 0 5 0 0 0 0 +MONDO:0001232 "orbital osteomyelitis" 0 4 0 0 0 0 http://identifiers.org/hgnc/4964 "HLA-G" 0 0 0 0 0 0 http://identifiers.org/hgnc/6018 "IL6" 0 0 0 0 0 0 GO:1905940 "negative regulation of gonad development" 1 0 0 0 0 1 @@ -43593,7 +43607,7 @@ MONDO:0014529 "cerebellar-facial-dental syndrome" 0 6 0 0 0 0 ENVO:01001434 "anthropogenic ecosystem conversion process"@en 1 0 0 0 0 0 MONDO:0006294 "pleural cancer" 1 12 0 0 0 1 MONDO:0005932 "pseudorabies" 1 3 0 0 0 0 -MONDO:0004861 "ophthalmia nodosa" 0 5 0 0 0 0 +MONDO:0004861 "ophthalmia nodosa" 0 4 0 0 0 0 http://identifiers.org/hgnc/24035 "APPL1" 0 0 0 0 0 0 CL:2000013 "fibroblast of skin of abdomen" 1 0 0 0 0 1 CHEBI:33245 "organic fundamental parent" 1 0 0 0 0 0 @@ -43602,12 +43616,12 @@ MONDO:0015799 "Smith-McCort dysplasia" 1 9 0 0 0 0 MONDO:0013815 "FGFR2-related bent bone dysplasia" 0 4 0 0 0 0 MONDO:0016774 "lichen planus pigmentosus" 1 5 0 0 0 0 MONDO:0013771 "transient infantile hypertriglyceridemia and hepatosteatosis" 0 3 0 0 0 0 -MONDO:0018532 "adenocarcinoma of liver and intrahepatic biliary tract" 0 4 0 0 0 1 +MONDO:0018532 "adenocarcinoma of liver and intrahepatic biliary tract" 0 2 0 0 0 1 GO:0032410 "negative regulation of transporter activity" 1 0 0 0 0 1 MONDO:0031011 "neurodevelopmental disorder with dysmorphic facies and variable seizures" 0 1 0 0 0 0 MONDO:0003751 "childhood germ cell tumor" 1 3 0 0 0 1 MONDO:0011721 "distal myopathy with anterior tibial onset" 0 6 0 0 0 0 -MONDO:0018378 "osteonecrosis of the jaw" 1 6 0 0 0 0 +MONDO:0018378 "osteonecrosis of the jaw" 1 5 0 0 0 0 GO:0031641 "regulation of myelination" 1 0 0 0 0 1 HP:0100360 "Contractures of the joints of the upper limbs" 0 1 0 0 0 0 CL:0000808 "DN4 thymocyte" 1 0 0 0 0 0 @@ -43633,13 +43647,13 @@ MONDO:0002498 "obsolete glioblastoma multiforme" 0 0 0 0 0 0 MONDO:0007460 "discrimination, Two-point, reduction 1N" 0 1 0 0 0 0 GO:0050900 "leukocyte migration" 1 0 0 0 0 0 NCBITaxon:197911 "Alphainfluenzavirus" 0 1 0 0 0 0 -MONDO:0011562 "autosomal dominant Parkinson disease 4" 1 6 0 0 0 0 +MONDO:0011562 "autosomal dominant Parkinson disease 4" 1 5 0 0 0 0 MONDO:0018988 "iridocorneal endothelial syndrome" 1 9 0 0 0 0 http://identifiers.org/hgnc/17022 "HPS5" 0 0 0 0 0 0 CHR:9606-chr16p11 "16p11 (Human)" 0 0 0 0 0 0 MONDO:0013136 "hereditary hypotrichosis with recurrent skin vesicles" 1 5 0 0 0 0 MONDO:0001959 "labyrinthine bilateral reactive loss" 0 4 0 0 0 0 -MONDO:0005027 "epilepsy" 1 15 0 0 0 0 +MONDO:0005027 "epilepsy" 1 14 0 0 0 0 NCBITaxon:10298 "Human alphaherpesvirus 1" 0 1 0 0 0 0 MONDO:0008779 "arthrogryposis" 1 4 0 0 0 0 MONDO:0000229 "Indian tick typhus" 1 2 0 0 0 1 @@ -43651,7 +43665,7 @@ MONDO:0014178 "inclusion body myopathy with early-onset Paget disease with or wi MONDO:0030025 "neurodevelopmental disorder with hypotonia, microcephaly, and seizures" 0 1 0 0 0 0 MONDO:0018626 "paratyphoid fever" 1 18 0 0 0 0 MONDO:0013696 "chromosome 2P16.3 deletion syndrome" 0 2 0 0 0 1 -MONDO:0004744 "borderline glaucoma" 0 5 0 0 0 0 +MONDO:0004744 "borderline glaucoma" 0 4 0 0 0 0 http://identifiers.org/hgnc/2343 "CRB1" 0 0 0 0 0 0 MONDO:0010838 "gonadal agenesis" 1 2 0 0 0 0 http://identifiers.org/hgnc/19857 "ISCA2" 0 0 0 0 0 0 @@ -43670,10 +43684,9 @@ GO:0051955 "regulation of amino acid transport" 1 0 0 0 0 1 MONDO:0019740 "acquired thrombotic thrombocytopenic purpura" 1 8 0 0 0 1 MONDO:0009279 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rdfs:subClassOf MONDO:0005144 MONDO:0044033 rdfs:subClassOf MONDO:0002254 MONDO:0009411 rdfs:subClassOf MONDO:0005495 @@ -34341,7 +34316,6 @@ MONDO:0004681 rdfs:subClassOf MONDO:0000592 MONDO:0017283 rdfs:subClassOf MONDO:0014741 CHEBI:39015 rdfs:subClassOf CHEBI:13850 MONDO:0013715 rdfs:subClassOf MONDO:0017593 -MONDO:0019907 rdfs:subClassOf MONDO:0018186 UBERON:0010186 rdfs:subClassOf UBERON:0001338 MONDO:0010526 rdfs:subClassOf MONDO:0015905 MONDO:0009925 rdfs:subClassOf MONDO:0019755 @@ -34458,7 +34432,6 @@ MONDO:0013264 rdfs:subClassOf MONDO:0005144 GO:0051884 rdfs:subClassOf GO:0048819 MONDO:0019080 rdfs:subClassOf MONDO:0004907 MONDO:0019993 rdfs:subClassOf MONDO:0005385 -MONDO:0044978 rdfs:subClassOf MONDO:0000001 CL:0002095 rdfs:subClassOf CL:0000593 MONDO:0029148 rdfs:subClassOf MONDO:0004983 MONDO:0009515 rdfs:subClassOf MONDO:0001822 @@ -34549,11 +34522,11 @@ MONDO:0018095 rdfs:subClassOf MONDO:0002320 NCBITaxon:116704 rdfs:subClassOf NCBITaxon:6752 MONDO:0023142 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MONDO:0003452 rdfs:subClassOf MONDO:0024654 CL:1000426 rdfs:subClassOf CL:0000150 @@ -34891,8 +34860,8 @@ MONDO:0006297 rdfs:subClassOf MONDO:0001748 MONDO:0010238 rdfs:subClassOf MONDO:0019586 CHEBI:33482 rdfs:subClassOf CHEBI:33485 UBERON:0001071 rdfs:subClassOf UBERON:0012320 -GO:0033145 rdfs:subClassOf GO:0009967 CL:0002571 rdfs:subClassOf CL:0000134 +GO:0033145 rdfs:subClassOf GO:0009967 UBERON:0002106 rdfs:subClassOf UBERON:0013765 MONDO:0001337 rdfs:subClassOf MONDO:0008420 http://identifiers.org/hgnc/23068 rdfs:subClassOf SO:0000704 @@ -34924,9 +34893,9 @@ NCBITaxon:60516 rdfs:subClassOf NCBITaxon:2267273 http://identifiers.org/hgnc/29683 rdfs:subClassOf SO:0000704 MONDO:0012819 rdfs:subClassOf MONDO:0019052 MONDO:0100112 rdfs:subClassOf MONDO:0100372 +MONDO:0002187 rdfs:subClassOf MONDO:0002263 CHEBI:17883 rdfs:subClassOf CHEBI:18140 MONDO:0002778 rdfs:subClassOf MONDO:0001279 -MONDO:0002187 rdfs:subClassOf MONDO:0002263 MONDO:0011530 rdfs:subClassOf MONDO:0019697 UBERON:0010133 rdfs:subClassOf CARO:0000000 GO:0016051 rdfs:subClassOf GO:0005975 @@ -34969,7 +34938,6 @@ UBERON:0009552 rdfs:subClassOf UBERON:0005451 MONDO:0007670 rdfs:subClassOf MONDO:0019520 HP:0009797 rdfs:subClassOf HP:0008609 MONDO:0006955 rdfs:subClassOf MONDO:0005267 -MONDO:0015153 rdfs:subClassOf MONDO:0020049 MONDO:0013076 rdfs:subClassOf MONDO:0020573 UBERON:0001777 rdfs:subClassOf UBERON:0003891 MONDO:0008869 rdfs:subClassOf MONDO:0019342 @@ -35008,8 +34976,8 @@ MONDO:0014012 rdfs:subClassOf MONDO:0018993 GO:0007281 rdfs:subClassOf GO:0048468 GO:0043235 rdfs:subClassOf GO:0032991 UBERON:0012465 rdfs:subClassOf UBERON:0000464 -MONDO:0004004 rdfs:subClassOf MONDO:0002122 GO:0090273 rdfs:subClassOf GO:0090276 +MONDO:0004004 rdfs:subClassOf MONDO:0002122 http://identifiers.org/hgnc/1366 rdfs:subClassOf SO:0000704 MONDO:0010506 rdfs:subClassOf MONDO:0019181 MONDO:0007615 rdfs:subClassOf MONDO:0003847 @@ -35024,7 +34992,6 @@ MONDO:0004822 rdfs:subClassOf MONDO:0005002 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rdfs:subClassOf MONDO:0018230 @@ -35081,7 +35047,6 @@ http://identifiers.org/hgnc/7551 rdfs:subClassOf SO:0000704 MONDO:0030456 rdfs:subClassOf MONDO:0015152 MONDO:0012210 rdfs:subClassOf MONDO:0100246 MONDO:0014416 rdfs:subClassOf MONDO:0017143 -MONDO:0001481 rdfs:subClassOf MONDO:0044967 MONDO:0004273 rdfs:subClassOf MONDO:0021489 MONDO:0018171 rdfs:subClassOf MONDO:0018365 MONDO:0016070 rdfs:subClassOf MONDO:0021147 @@ -35102,7 +35067,6 @@ MONDO:0009213 rdfs:subClassOf MONDO:0019391 MONDO:0019126 rdfs:subClassOf MONDO:0005020 MONDO:0009232 rdfs:subClassOf MONDO:0015335 MONDO:0001385 rdfs:subClassOf MONDO:0001941 -MONDO:0026768 rdfs:subClassOf MONDO:0003847 MONDO:0005311 rdfs:subClassOf MONDO:0002277 http://identifiers.org/hgnc/7976 rdfs:subClassOf SO:0000704 GO:1903531 rdfs:subClassOf GO:0051048 @@ -35154,13 +35118,14 @@ PATO:0001873 rdfs:subClassOf PATO:0002007 MONDO:0020256 rdfs:subClassOf MONDO:0001146 MONDO:0011279 rdfs:subClassOf MONDO:0019588 GO:0009250 rdfs:subClassOf 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UBERON:0035597 rdfs:subClassOf UBERON:0009955 HP:0002900 rdfs:subClassOf HP:0011042 MONDO:0013760 rdfs:subClassOf MONDO:0017270 @@ -35536,7 +35498,6 @@ MONDO:0016505 rdfs:subClassOf MONDO:0003924 MONDO:0019787 rdfs:subClassOf MONDO:0020598 ECTO:7000058 rdfs:subClassOf ECTO:0000015 MONDO:0005099 rdfs:subClassOf MONDO:0043218 -MONDO:0014708 rdfs:subClassOf MONDO:0018186 HP:0001962 rdfs:subClassOf HP:0011675 MONDO:0011669 rdfs:subClassOf MONDO:0018246 GO:2000851 rdfs:subClassOf GO:2000848 @@ -35594,6 +35555,7 @@ MONDO:0015411 rdfs:subClassOf MONDO:0019755 MONDO:0011557 rdfs:subClassOf MONDO:0024237 NCBITaxon:2842407 rdfs:subClassOf NCBITaxon:11270 ENVO:01000685 rdfs:subClassOf ENVO:01001476 +MONDO:0100490 rdfs:subClassOf MONDO:0015855 CHEBI:25216 rdfs:subClassOf CHEBI:33909 UBERON:0015716 rdfs:subClassOf UBERON:0001278 MONDO:0009480 rdfs:subClassOf MONDO:0020240 @@ -35665,9 +35627,9 @@ NCBITaxon:1386 rdfs:subClassOf NCBITaxon:186817 MONDO:0012085 rdfs:subClassOf MONDO:0016575 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MONDO:0006304 rdfs:subClassOf MONDO:0045069 MONDO:0017376 rdfs:subClassOf MONDO:0005578 @@ -36433,8 +36396,8 @@ GO:0051276 rdfs:subClassOf GO:0006996 MONDO:0012569 rdfs:subClassOf MONDO:0008004 MONDO:0001713 rdfs:subClassOf MONDO:0015909 MONDO:0004214 rdfs:subClassOf MONDO:0003463 -MONDO:0002464 rdfs:subClassOf MONDO:0002460 GO:0097325 rdfs:subClassOf GO:0050673 +MONDO:0002464 rdfs:subClassOf MONDO:0002460 MONDO:0000751 rdfs:subClassOf MONDO:0002256 MONDO:0003708 rdfs:subClassOf MONDO:0000402 MONDO:0004323 rdfs:subClassOf MONDO:0005336 @@ -36473,8 +36436,8 @@ ENVO:01000283 rdfs:subClassOf ENVO:01000325 MONDO:0030905 rdfs:subClassOf MONDO:0019588 MONDO:0044311 rdfs:subClassOf MONDO:0003847 MONDO:0001461 rdfs:subClassOf MONDO:0004678 -UBERON:0005874 rdfs:subClassOf UBERON:0005879 MONDO:0014601 rdfs:subClassOf MONDO:0020022 +UBERON:0005874 rdfs:subClassOf UBERON:0005879 MONDO:0001272 rdfs:subClassOf MONDO:0003409 UBERON:0001474 rdfs:subClassOf UBERON:0004765 MONDO:0001218 rdfs:subClassOf 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rdfs:subClassOf SO:0000704 MONDO:0016852 rdfs:subClassOf MONDO:0700027 @@ -36809,8 +36771,8 @@ CHEBI:48730 rdfs:subClassOf CHEBI:46663 MONDO:0017064 rdfs:subClassOf MONDO:0017062 MONDO:0009621 rdfs:subClassOf MONDO:0015159 MONDO:0008181 rdfs:subClassOf MONDO:0003847 -HP:0001317 rdfs:subClassOf HP:0011283 MONDO:0018107 rdfs:subClassOf MONDO:0005108 +HP:0001317 rdfs:subClassOf HP:0011283 ENVO:02500026 rdfs:subClassOf OBI:0000011 MONDO:0016262 rdfs:subClassOf MONDO:0005058 GO:0002087 rdfs:subClassOf GO:0044065 @@ -36931,8 +36893,8 @@ GO:0044271 rdfs:subClassOf GO:0034641 MONDO:0019177 rdfs:subClassOf MONDO:0019046 GO:0001811 rdfs:subClassOf GO:0002884 GO:1902117 rdfs:subClassOf GO:0044089 -CL:0002062 rdfs:subClassOf CL:0000322 MONDO:0014514 rdfs:subClassOf MONDO:0019625 +CL:0002062 rdfs:subClassOf CL:0000322 MONDO:0032793 rdfs:subClassOf MONDO:0003847 MONDO:0012113 rdfs:subClassOf MONDO:0020573 UBERON:0005863 rdfs:subClassOf UBERON:0005856 @@ -37047,6 +37009,7 @@ MONDO:0100448 rdfs:subClassOf MONDO:0019118 MONDO:0016048 rdfs:subClassOf MONDO:0017626 MONDO:0016576 rdfs:subClassOf MONDO:0017423 MONDO:0019270 rdfs:subClassOf MONDO:0019268 +MONDO:0010843 rdfs:subClassOf MONDO:0020573 http://identifiers.org/hgnc/28526 rdfs:subClassOf SO:0000704 MONDO:0015801 rdfs:subClassOf MONDO:0002243 MONDO:0002624 rdfs:subClassOf MONDO:0005058 @@ -37213,8 +37176,8 @@ UBERON:0002372 rdfs:subClassOf UBERON:0001962 GO:0007620 rdfs:subClassOf GO:0007618 MONDO:0006702 rdfs:subClassOf MONDO:0006915 MONDO:0012331 rdfs:subClassOf MONDO:0100246 -MONDO:0011202 rdfs:subClassOf MONDO:0020240 GO:0022602 rdfs:subClassOf GO:0048511 +MONDO:0011202 rdfs:subClassOf MONDO:0020240 http://identifiers.org/hgnc/2726 rdfs:subClassOf SO:0000704 http://identifiers.org/hgnc/14154 rdfs:subClassOf SO:0000704 MONDO:0004020 rdfs:subClassOf MONDO:0004021 @@ -37303,8 +37266,8 @@ MONDO:0001066 rdfs:subClassOf MONDO:0006718 UBERON:0003277 rdfs:subClassOf UBERON:0010912 GO:0001818 rdfs:subClassOf GO:0051241 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rdfs:subClassOf PATO:0002305 @@ -37557,13 +37519,13 @@ GO:0098815 rdfs:subClassOf GO:0009966 MONDO:0009093 rdfs:subClassOf MONDO:0019292 MONDO:0019378 rdfs:subClassOf MONDO:0021641 MONDO:0010790 rdfs:subClassOf MONDO:0016333 +MONDO:0016854 rdfs:subClassOf MONDO:0700027 ENVO:21001216 rdfs:subClassOf ENVO:01001026 MONDO:0011182 rdfs:subClassOf MONDO:0011610 MONDO:0014212 rdfs:subClassOf MONDO:0020480 MONDO:0014690 rdfs:subClassOf MONDO:0015780 UBERON:0034696 rdfs:subClassOf UBERON:0002358 MONDO:0002459 rdfs:subClassOf MONDO:0000605 -MONDO:0000369 rdfs:subClassOf MONDO:0044965 MONDO:0013688 rdfs:subClassOf MONDO:0006499 MONDO:0019409 rdfs:subClassOf MONDO:0005298 MONDO:0010893 rdfs:subClassOf MONDO:0018493 @@ -37630,8 +37592,8 @@ MONDO:0003621 rdfs:subClassOf MONDO:0002995 UBERON:0012429 rdfs:subClassOf UBERON:0034769 GO:0048639 rdfs:subClassOf GO:0045927 MONDO:0013775 rdfs:subClassOf MONDO:0002242 -GO:0006860 rdfs:subClassOf GO:0006858 NCBITaxon:172148 rdfs:subClassOf NCBITaxon:33743 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+GO:0060688 rdfs:subClassOf GO:0022603 MONDO:0020072 rdfs:subClassOf MONDO:0015650 MONDO:0017985 rdfs:subClassOf MONDO:0017429 MONDO:0008394 rdfs:subClassOf MONDO:0019040 @@ -41480,11 +41432,11 @@ ECTO:0010002 rdfs:subClassOf ECTO:0010000 MONDO:0000482 rdfs:subClassOf MONDO:0000477 GO:0050764 rdfs:subClassOf GO:0060627 MONDO:0012885 rdfs:subClassOf MONDO:0017749 -GO:0098645 rdfs:subClassOf GO:0098644 UBERON:0000164 rdfs:subClassOf UBERON:0002050 +GO:0098645 rdfs:subClassOf GO:0098644 MONDO:0042495 rdfs:subClassOf MONDO:0002311 -http://identifiers.org/hgnc/20773 rdfs:subClassOf SO:0000704 CL:0002485 rdfs:subClassOf CL:0000148 +http://identifiers.org/hgnc/20773 rdfs:subClassOf SO:0000704 MONDO:0002860 rdfs:subClassOf MONDO:0005212 MONDO:0011564 rdfs:subClassOf MONDO:0015993 MONDO:0032624 rdfs:subClassOf MONDO:0100223 @@ -41539,7 +41491,6 @@ UBERON:0000016 rdfs:subClassOf UBERON:0000471 MONDO:0019036 rdfs:subClassOf MONDO:0005135 MONDO:0018451 rdfs:subClassOf MONDO:0018894 UBERON:0015025 rdfs:subClassOf UBERON:0015024 -MONDO:0016875 rdfs:subClassOf MONDO:0020054 MONDO:0043141 rdfs:subClassOf MONDO:0008797 GO:0048873 rdfs:subClassOf GO:0048872 MONDO:0019493 rdfs:subClassOf MONDO:0021209 @@ -41846,8 +41797,8 @@ UBERON:0008789 rdfs:subClassOf UBERON:0004704 MONDO:0001436 rdfs:subClassOf MONDO:0002279 MONDO:0020073 rdfs:subClassOf MONDO:0015650 MONDO:0005751 rdfs:subClassOf MONDO:0005108 -UBERON:0035322 rdfs:subClassOf UBERON:0015212 HP:0030191 rdfs:subClassOf HP:0012535 +UBERON:0035322 rdfs:subClassOf UBERON:0015212 MONDO:0009067 rdfs:subClassOf MONDO:0019216 GO:1902113 rdfs:subClassOf GO:0046939 MONDO:0002463 rdfs:subClassOf MONDO:0002466 @@ -41966,8 +41917,8 @@ MONDO:0010435 rdfs:subClassOf MONDO:0005712 MONDO:0021209 rdfs:subClassOf MONDO:0021350 MONDO:0000845 rdfs:subClassOf MONDO:0000833 MONDO:0003374 rdfs:subClassOf MONDO:0002448 -MONDO:0021808 rdfs:subClassOf MONDO:0021809 GO:0002719 rdfs:subClassOf GO:0001818 +MONDO:0021808 rdfs:subClassOf MONDO:0021809 MONDO:0003812 rdfs:subClassOf MONDO:0018364 MONDO:0012497 rdfs:subClassOf MONDO:0016293 http://identifiers.org/hgnc/11781 rdfs:subClassOf SO:0000704 @@ -41976,7 +41927,6 @@ GO:0098643 rdfs:subClassOf GO:0098644 MONDO:0030878 rdfs:subClassOf MONDO:0003847 GO:0070192 rdfs:subClassOf GO:0051276 MONDO:0006026 rdfs:subClassOf MONDO:0002118 -MONDO:0016878 rdfs:subClassOf MONDO:0020054 MONDO:0019494 rdfs:subClassOf MONDO:0021209 MONDO:0005597 rdfs:subClassOf MONDO:0005086 FOODON:03420293 rdfs:subClassOf FOODON:03420110 @@ -42038,8 +41988,8 @@ UBERON:0001961 rdfs:subClassOf UBERON:0012069 GO:0051931 rdfs:subClassOf GO:0031644 NCBITaxon:2611341 rdfs:subClassOf NCBITaxon:2759 MONDO:0021913 rdfs:subClassOf MONDO:0005093 -MONDO:0001993 rdfs:subClassOf MONDO:0002790 UBERON:0006815 rdfs:subClassOf UBERON:0011825 +MONDO:0001993 rdfs:subClassOf MONDO:0002790 MONDO:0009461 rdfs:subClassOf MONDO:0004983 ECTO:9000026 rdfs:subClassOf ECTO:0000135 UBERON:0000485 rdfs:subClassOf UBERON:0012274 @@ -42081,7 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MONDO:0005041 +UBERON:0006904 rdfs:subClassOf UBERON:0004120 UBERON:0018142 rdfs:subClassOf UBERON:0010913 MONDO:0007398 rdfs:subClassOf MONDO:0018751 MONDO:0005770 rdfs:subClassOf MONDO:0100330 @@ -42297,8 +42245,8 @@ MONDO:0003710 rdfs:subClassOf MONDO:0015864 MONDO:0019121 rdfs:subClassOf MONDO:0005766 GO:0045640 rdfs:subClassOf GO:0030852 NCBITaxon:1980418 rdfs:subClassOf NCBITaxon:1980410 -MONDO:0010534 rdfs:subClassOf MONDO:0016612 UBERON:0010760 rdfs:subClassOf UBERON:4100000 +MONDO:0010534 rdfs:subClassOf MONDO:0016612 MONDO:0017933 rdfs:subClassOf MONDO:0016387 MONDO:0000320 rdfs:subClassOf MONDO:0004928 UBERON:0003856 rdfs:subClassOf UBERON:0007529 @@ -42378,24 +42326,24 @@ GO:0009081 rdfs:subClassOf GO:0006520 MONDO:0009033 rdfs:subClassOf MONDO:0002320 CHEBI:23132 rdfs:subClassOf CHEBI:22712 NCBITaxon:7952 rdfs:subClassOf NCBITaxon:186627 -MONDO:0000385 rdfs:subClassOf MONDO:0021223 GO:0072175 rdfs:subClassOf GO:0035148 +MONDO:0000385 rdfs:subClassOf MONDO:0021223 MONDO:0016518 rdfs:subClassOf MONDO:0017675 CHEBI:33280 rdfs:subClassOf CHEBI:24432 MONDO:0010379 rdfs:subClassOf MONDO:0004736 MONDO:0003998 rdfs:subClassOf MONDO:0024660 -GO:1903781 rdfs:subClassOf GO:0023056 CHEBI:58945 rdfs:subClassOf CHEBI:25696 MONDO:0009350 rdfs:subClassOf MONDO:0002254 MONDO:0011631 rdfs:subClassOf MONDO:0006507 +GO:1903781 rdfs:subClassOf GO:0023056 UBERON:0007134 rdfs:subClassOf UBERON:0000045 http://identifiers.org/hgnc/27375 rdfs:subClassOf SO:0000704 UBERON:0003701 rdfs:subClassOf UBERON:0000043 GO:0006568 rdfs:subClassOf GO:0009072 MONDO:0011473 rdfs:subClassOf MONDO:0018998 CL:0002178 rdfs:subClassOf CL:0002251 -UBERON:0036074 rdfs:subClassOf UBERON:0001638 MONDO:0002162 rdfs:subClassOf MONDO:0005636 +UBERON:0036074 rdfs:subClassOf UBERON:0001638 MONDO:0013601 rdfs:subClassOf MONDO:0019052 http://identifiers.org/hgnc/11822 rdfs:subClassOf SO:0000704 http://identifiers.org/hgnc/6694 rdfs:subClassOf SO:0000704 @@ -42448,8 +42396,8 @@ UBERON:0000924 rdfs:subClassOf UBERON:0000923 MONDO:0004976 rdfs:subClassOf MONDO:0020128 UBERON:0001344 rdfs:subClassOf UBERON:0004804 MONDO:0010362 rdfs:subClassOf MONDO:0016118 -MONDO:0007982 rdfs:subClassOf MONDO:0003847 MONDO:0600019 rdfs:subClassOf MONDO:0600016 +MONDO:0007982 rdfs:subClassOf MONDO:0003847 MONDO:0014976 rdfs:subClassOf MONDO:0005267 GO:0045938 rdfs:subClassOf GO:0042753 MONDO:0004122 rdfs:subClassOf MONDO:0020516 @@ -42517,7 +42465,6 @@ MONDO:0002512 rdfs:subClassOf MONDO:0004970 http://identifiers.org/hgnc/29932 rdfs:subClassOf SO:0000704 MONDO:0021895 rdfs:subClassOf MONDO:0002254 MONDO:0044725 rdfs:subClassOf MONDO:0021094 -MONDO:0008110 rdfs:subClassOf MONDO:0003847 MONDO:0017920 rdfs:subClassOf MONDO:0015159 http://identifiers.org/hgnc/3036 rdfs:subClassOf SO:0000704 MONDO:0007663 rdfs:subClassOf MONDO:0018174 @@ -42625,6 +42572,7 @@ GO:1990351 rdfs:subClassOf GO:0032991 MONDO:0013668 rdfs:subClassOf MONDO:0016951 http://identifiers.org/hgnc/13711 rdfs:subClassOf SO:0000704 MONDO:0032629 rdfs:subClassOf MONDO:0100223 +MONDO:0024623 rdfs:subClassOf MONDO:0000001 MONDO:0033546 rdfs:subClassOf MONDO:0003847 GO:1990204 rdfs:subClassOf GO:1902494 MONDO:0013440 rdfs:subClassOf MONDO:0015152 @@ -42677,7 +42625,6 @@ MONDO:0030529 rdfs:subClassOf MONDO:0015977 CHEBI:32504 rdfs:subClassOf CHEBI:33558 MONDO:0012308 rdfs:subClassOf MONDO:0022409 HP:0001651 rdfs:subClassOf HP:0004307 -MONDO:0016872 rdfs:subClassOf MONDO:0020054 MONDO:0025484 rdfs:subClassOf MONDO:0021674 http://identifiers.org/hgnc/7594 rdfs:subClassOf SO:0000704 MONDO:0600025 rdfs:subClassOf MONDO:0002156 @@ -42753,9 +42700,9 @@ MONDO:0000615 rdfs:subClassOf MONDO:0006116 MONDO:0016067 rdfs:subClassOf MONDO:0019282 MONDO:0008097 rdfs:subClassOf MONDO:0020179 HP:0000526 rdfs:subClassOf HP:0008053 +MONDO:0003193 rdfs:subClassOf MONDO:0018532 UBERON:0000443 rdfs:subClassOf UBERON:0001144 MONDO:0016331 rdfs:subClassOf MONDO:0009229 -MONDO:0003193 rdfs:subClassOf MONDO:0018532 GO:0090277 rdfs:subClassOf GO:0090276 MONDO:0018891 rdfs:subClassOf MONDO:0019052 HP:0001977 rdfs:subClassOf HP:0001871 @@ -42835,8 +42782,8 @@ http://identifiers.org/hgnc/23801 rdfs:subClassOf SO:0000704 MONDO:0010163 rdfs:subClassOf MONDO:0003847 ENVO:01001008 rdfs:subClassOf BFO:0000030 ECTO:0000207 rdfs:subClassOf ECTO:0000371 -MONDO:0012343 rdfs:subClassOf MONDO:0007031 MONDO:0017755 rdfs:subClassOf MONDO:0024431 +MONDO:0012343 rdfs:subClassOf MONDO:0007031 MONDO:0014507 rdfs:subClassOf MONDO:0002320 MONDO:0001907 rdfs:subClassOf MONDO:0016367 UBERON:5103635 rdfs:subClassOf UBERON:5106052 @@ -42932,9 +42879,9 @@ HP:0007378 rdfs:subClassOf HP:0011793 MONDO:0008612 rdfs:subClassOf MONDO:0001734 http://identifiers.org/hgnc/10418 rdfs:subClassOf SO:0000704 CL:0019001 rdfs:subClassOf CL:0000313 -MONDO:0002643 rdfs:subClassOf MONDO:0019056 MONDO:0024340 rdfs:subClassOf MONDO:0021231 GO:0061370 rdfs:subClassOf GO:1901617 +MONDO:0002643 rdfs:subClassOf MONDO:0019056 CHEBI:35605 rdfs:subClassOf CHEBI:24833 MONDO:0024278 rdfs:subClassOf MONDO:0005538 MONDO:0002131 rdfs:subClassOf MONDO:0002132 @@ -42949,7 +42896,6 @@ MONDO:0006740 rdfs:subClassOf MONDO:0002254 UBERON:0009210 rdfs:subClassOf UBERON:0002050 CHR:9606-chr5q12 rdfs:subClassOf GO:0098687 MONDO:0016449 rdfs:subClassOf MONDO:0016434 -MONDO:0021350 rdfs:subClassOf MONDO:0000651 MONDO:0014564 rdfs:subClassOf MONDO:0100372 UBERON:0014398 rdfs:subClassOf UBERON:0003831 MONDO:0002335 rdfs:subClassOf MONDO:0003334 @@ -42973,7 +42919,6 @@ MONDO:0060763 rdfs:subClassOf MONDO:0019117 MONDO:0004530 rdfs:subClassOf MONDO:0005153 GO:0120316 rdfs:subClassOf GO:0044458 MONDO:0003832 rdfs:subClassOf MONDO:0021094 -MONDO:0005154 rdfs:subClassOf MONDO:0044965 CHEBI:15765 rdfs:subClassOf CHEBI:83822 HP:0100267 rdfs:subClassOf HP:0100276 MONDO:0011407 rdfs:subClassOf MONDO:0017627 @@ -43042,11 +42987,10 @@ UBERON:0000317 rdfs:subClassOf UBERON:0001207 PATO:0000992 rdfs:subClassOf PATO:0001548 MONDO:0015034 rdfs:subClassOf MONDO:0019450 MONDO:0009928 rdfs:subClassOf MONDO:0003847 -CHEBI:50683 rdfs:subClassOf CHEBI:76863 UBERON:0006273 rdfs:subClassOf UBERON:0016566 +CHEBI:50683 rdfs:subClassOf CHEBI:76863 MONDO:0008961 rdfs:subClassOf MONDO:0018995 GO:0002461 rdfs:subClassOf GO:0002507 -MONDO:0017006 rdfs:subClassOf MONDO:0020059 MONDO:0002938 rdfs:subClassOf MONDO:0005341 GO:0030001 rdfs:subClassOf GO:0006812 MONDO:0008589 rdfs:subClassOf MONDO:0003847 @@ -43063,8 +43007,8 @@ MONDO:0004708 rdfs:subClassOf MONDO:0004647 MONDO:0030543 rdfs:subClassOf MONDO:0000732 MONDO:0000405 rdfs:subClassOf MONDO:0024634 MONDO:0012193 rdfs:subClassOf MONDO:0015151 -MONDO:0015249 rdfs:subClassOf MONDO:0003767 http://identifiers.org/hgnc/9364 rdfs:subClassOf SO:0000704 +MONDO:0015249 rdfs:subClassOf MONDO:0003767 MONDO:0005774 rdfs:subClassOf MONDO:0000314 MONDO:0001470 rdfs:subClassOf MONDO:0006082 MONDO:0016164 rdfs:subClassOf MONDO:0018745 @@ -43088,7 +43032,6 @@ MONDO:0001717 rdfs:subClassOf MONDO:0001308 CL:0002076 rdfs:subClassOf CL:0000066 MONDO:0020419 rdfs:subClassOf MONDO:0020287 PO:0025029 rdfs:subClassOf PO:0025004 -MONDO:0016871 rdfs:subClassOf MONDO:0020054 MONDO:0019562 rdfs:subClassOf MONDO:0019340 CHEBI:36054 rdfs:subClassOf CHEBI:62732 MONDO:0002934 rdfs:subClassOf MONDO:0000629 @@ -43141,10 +43084,10 @@ UBERON:0001980 rdfs:subClassOf UBERON:0003509 GO:0016712 rdfs:subClassOf GO:0016705 MONDO:0008771 rdfs:subClassOf MONDO:0021147 MONDO:0012699 rdfs:subClassOf MONDO:0016333 +MONDO:0019468 rdfs:subClassOf MONDO:0003540 MONDO:0007248 rdfs:subClassOf MONDO:0017673 -MONDO:0017907 rdfs:subClassOf MONDO:0004034 MONDO:0003675 rdfs:subClassOf MONDO:0005068 -MONDO:0019468 rdfs:subClassOf MONDO:0003540 +MONDO:0017907 rdfs:subClassOf MONDO:0004034 MONDO:0008853 rdfs:subClassOf MONDO:0001334 MONDO:0002815 rdfs:subClassOf MONDO:0020683 MONDO:0001857 rdfs:subClassOf MONDO:0005683 @@ -43187,8 +43130,8 @@ GO:0002892 rdfs:subClassOf GO:0002889 MONDO:0005266 rdfs:subClassOf MONDO:0002311 CL:0000788 rdfs:subClassOf CL:0000785 MONDO:0002982 rdfs:subClassOf MONDO:0018271 -GO:0005622 rdfs:subClassOf GO:0110165 NCIT:C19683 rdfs:subClassOf NCIT:C16326 +GO:0005622 rdfs:subClassOf GO:0110165 http://identifiers.org/hgnc/22082 rdfs:subClassOf SO:0000704 MONDO:0008695 rdfs:subClassOf MONDO:0019268 MONDO:0015085 rdfs:subClassOf MONDO:0017265 @@ -43242,6 +43185,7 @@ MONDO:0001618 rdfs:subClassOf MONDO:0006672 MONDO:0004055 rdfs:subClassOf MONDO:0001854 MONDO:0006356 rdfs:subClassOf MONDO:0021331 UBERON:0000956 rdfs:subClassOf CARO:0000000 +MONDO:0100491 rdfs:subClassOf MONDO:0022205 MONDO:0019661 rdfs:subClassOf MONDO:0007043 http://identifiers.org/hgnc/6414 rdfs:subClassOf SO:0000704 CHEBI:77182 rdfs:subClassOf CHEBI:64047 @@ -43304,16 +43248,15 @@ MONDO:0016028 rdfs:subClassOf MONDO:0005294 MONDO:0007186 rdfs:subClassOf MONDO:0003749 UBERON:0002049 rdfs:subClassOf BFO:0000040 http://identifiers.org/hgnc/2197 rdfs:subClassOf SO:0000704 -MONDO:0014751 rdfs:subClassOf MONDO:0019117 MONDO:0016166 rdfs:subClassOf MONDO:0001741 MONDO:0022896 rdfs:subClassOf MONDO:0015469 MONDO:0003303 rdfs:subClassOf MONDO:0005411 +MONDO:0014751 rdfs:subClassOf MONDO:0019117 CHEBI:38104 rdfs:subClassOf CHEBI:24532 MONDO:0019633 rdfs:subClassOf MONDO:0000314 MONDO:0005304 rdfs:subClassOf MONDO:0004721 UBERON:0004234 rdfs:subClassOf UBERON:0003386 MONDO:0012921 rdfs:subClassOf MONDO:0005147 -MONDO:0011757 rdfs:subClassOf MONDO:0007215 http://identifiers.org/hgnc/10419 rdfs:subClassOf SO:0000704 MONDO:0017880 rdfs:subClassOf MONDO:0100120 UBERON:0001871 rdfs:subClassOf UBERON:0016526 @@ -43335,8 +43278,8 @@ GO:1902722 rdfs:subClassOf GO:0050714 MONDO:0004868 rdfs:subClassOf MONDO:0002515 MONDO:0019662 rdfs:subClassOf MONDO:0015461 http://identifiers.org/hgnc/9279 rdfs:subClassOf SO:0000704 -MONDO:0004125 rdfs:subClassOf MONDO:0003299 MONDO:0012275 rdfs:subClassOf MONDO:0018262 +MONDO:0004125 rdfs:subClassOf MONDO:0003299 MONDO:0017061 rdfs:subClassOf MONDO:0018968 UBERON:0007827 rdfs:subClassOf UBERON:0034929 MONDO:0014651 rdfs:subClassOf MONDO:0018237 @@ -43416,11 +43359,11 @@ MONDO:0014807 rdfs:subClassOf MONDO:0000209 http://identifiers.org/hgnc/20318 rdfs:subClassOf SO:0000704 MONDO:0007067 rdfs:subClassOf MONDO:0016789 http://identifiers.org/hgnc/20778 rdfs:subClassOf SO:0000704 -UBERON:0010332 rdfs:subClassOf UBERON:0000490 MONDO:0001658 rdfs:subClassOf MONDO:0005397 +UBERON:0010332 rdfs:subClassOf UBERON:0000490 MONDO:0020690 rdfs:subClassOf MONDO:0018177 -MONDO:0011410 rdfs:subClassOf MONDO:0003847 MONDO:0000705 rdfs:subClassOf MONDO:0006039 +MONDO:0011410 rdfs:subClassOf MONDO:0003847 GO:0046390 rdfs:subClassOf GO:0090407 ENVO:01001346 rdfs:subClassOf ENVO:03000010 MONDO:0006150 rdfs:subClassOf MONDO:0023113 @@ -43428,7 +43371,6 @@ GO:1901362 rdfs:subClassOf GO:1901360 MONDO:0008728 rdfs:subClassOf MONDO:0015327 MONDO:0006745 rdfs:subClassOf MONDO:0003311 HP:0000944 rdfs:subClassOf HP:0011314 -MONDO:0017005 rdfs:subClassOf MONDO:0020059 MONDO:0008871 rdfs:subClassOf MONDO:0000060 MONDO:0008072 rdfs:subClassOf MONDO:0005342 GO:0009583 rdfs:subClassOf GO:0009416 @@ -43490,7 +43432,6 @@ MONDO:0009565 rdfs:subClassOf MONDO:0000508 MONDO:0001992 rdfs:subClassOf MONDO:0005447 MONDO:0003502 rdfs:subClassOf MONDO:0005096 UBERON:0001826 rdfs:subClassOf UBERON:0000379 -MONDO:0016874 rdfs:subClassOf MONDO:0020054 MONDO:0005651 rdfs:subClassOf MONDO:0005650 MONDO:0019753 rdfs:subClassOf MONDO:0015564 NCBITaxon:178830 rdfs:subClassOf NCBITaxon:11157 @@ -43499,7 +43440,6 @@ MONDO:0020292 rdfs:subClassOf MONDO:0019512 MONDO:0018840 rdfs:subClassOf MONDO:0007329 http://identifiers.org/hgnc/4311 rdfs:subClassOf SO:0000704 MONDO:0025155 rdfs:subClassOf MONDO:0024913 -MONDO:0022173 rdfs:subClassOf MONDO:0000762 MONDO:0008921 rdfs:subClassOf MONDO:0009351 CL:0000624 rdfs:subClassOf CL:0000791 GO:0002763 rdfs:subClassOf GO:0002761 @@ -43511,8 +43451,8 @@ MONDO:0010865 rdfs:subClassOf MONDO:0019117 CL:0000670 rdfs:subClassOf CL:0000219 MONDO:0007116 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-CL:0000442 rdfs:subClassOf CL:0000473 +MONDO:0006650 rdfs:subClassOf MONDO:0002254 MONDO:0009597 rdfs:subClassOf MONDO:0003847 UBERON:0001752 rdfs:subClassOf UBERON:4000013 +CL:0000442 rdfs:subClassOf CL:0000473 MONDO:0003655 rdfs:subClassOf MONDO:0002571 -MONDO:0006650 rdfs:subClassOf MONDO:0002254 UBERON:0002539 rdfs:subClassOf UBERON:0000481 MONDO:0001400 rdfs:subClassOf MONDO:0000638 MONDO:0013356 rdfs:subClassOf MONDO:0017329 @@ -43736,8 +43676,8 @@ MONDO:0000721 rdfs:subClassOf MONDO:0005066 HP:0002410 rdfs:subClassOf HP:0002118 CL:0002220 rdfs:subClassOf CL:0000710 MONDO:0014601 rdfs:subClassOf MONDO:0015159 -MONDO:0008197 rdfs:subClassOf MONDO:0018953 MONDO:0017270 rdfs:subClassOf MONDO:0017263 +MONDO:0008197 rdfs:subClassOf MONDO:0018953 UBERON:0010413 rdfs:subClassOf UBERON:0015143 MONDO:0019873 rdfs:subClassOf MONDO:0019716 HP:0012719 rdfs:subClassOf HP:0025032 @@ -43830,13 +43770,12 @@ ENVO:01000743 rdfs:subClassOf ENVO:01000952 MONDO:0015828 rdfs:subClassOf MONDO:0002263 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MONDO:0005045 GO:0002795 rdfs:subClassOf GO:0002794 @@ -44694,8 +44628,8 @@ MONDO:0007682 rdfs:subClassOf MONDO:0003847 GO:0002441 rdfs:subClassOf GO:0001821 HP:0004328 rdfs:subClassOf HP:0012372 MONDO:0003671 rdfs:subClassOf MONDO:0005068 -MONDO:0019926 rdfs:subClassOf MONDO:0019852 MONDO:0034212 rdfs:subClassOf MONDO:0029000 +MONDO:0019926 rdfs:subClassOf MONDO:0019852 MONDO:0002616 rdfs:subClassOf MONDO:0005070 MONDO:0100084 rdfs:subClassOf MONDO:0019952 MONDO:0020161 rdfs:subClassOf MONDO:0002043 @@ -44719,12 +44653,12 @@ http://identifiers.org/hgnc/2037 rdfs:subClassOf SO:0000704 http://identifiers.org/hgnc/25221 rdfs:subClassOf SO:0000704 MONDO:0020502 rdfs:subClassOf MONDO:0100120 HP:0002536 rdfs:subClassOf HP:0002269 +MONDO:0011945 rdfs:subClassOf MONDO:0017270 MONDO:0010137 rdfs:subClassOf MONDO:0045046 MONDO:0011172 rdfs:subClassOf MONDO:0003847 -MONDO:0011945 rdfs:subClassOf MONDO:0017270 -http://identifiers.org/hgnc/20665 rdfs:subClassOf SO:0000704 MONDO:0018756 rdfs:subClassOf MONDO:0007179 MONDO:0013189 rdfs:subClassOf MONDO:0001162 +http://identifiers.org/hgnc/20665 rdfs:subClassOf SO:0000704 http://identifiers.org/hgnc/6469 rdfs:subClassOf SO:0000704 HP:0031375 rdfs:subClassOf HP:0012823 MONDO:0002642 rdfs:subClassOf MONDO:0002633 @@ -44735,8 +44669,8 @@ HP:0001911 rdfs:subClassOf HP:0010974 NCBITaxon:2267273 rdfs:subClassOf NCBITaxon:28843 MONDO:0021747 rdfs:subClassOf MONDO:0005550 MONDO:0018037 rdfs:subClassOf MONDO:0015823 -UBERON:0001723 rdfs:subClassOf UBERON:0013765 MONDO:0011292 rdfs:subClassOf MONDO:0004980 +UBERON:0001723 rdfs:subClassOf UBERON:0013765 MONDO:0007303 rdfs:subClassOf MONDO:0005381 GO:0002892 rdfs:subClassOf GO:0002886 MONDO:0017138 rdfs:subClassOf MONDO:0015246 @@ -44746,9 +44680,9 @@ HP:0004408 rdfs:subClassOf HP:0012638 http://identifiers.org/hgnc/3513 rdfs:subClassOf SO:0000704 MONDO:0011193 rdfs:subClassOf MONDO:0000455 MONDO:0035133 rdfs:subClassOf MONDO:0019117 -GO:1902018 rdfs:subClassOf GO:0120033 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MONDO:0056804 rdfs:subClassOf MONDO:0000628 +CHEBI:36132 rdfs:subClassOf CHEBI:3992 NCBITaxon:147571 rdfs:subClassOf NCBITaxon:134362 NCBITaxon:5754 rdfs:subClassOf NCBITaxon:33677 GO:0045271 rdfs:subClassOf GO:0030964 @@ -44930,6 +44864,7 @@ MONDO:0011076 rdfs:subClassOf MONDO:0016340 CHEBI:24834 rdfs:subClassOf CHEBI:22563 CL:1000416 rdfs:subClassOf CL:0000185 UBERON:0009844 rdfs:subClassOf UBERON:0000464 +MONDO:0020466 rdfs:subClassOf MONDO:0700027 MONDO:0021969 rdfs:subClassOf MONDO:0002254 UBERON:0006590 rdfs:subClassOf UBERON:0005160 http://identifiers.org/hgnc/24229 rdfs:subClassOf SO:0000704 @@ -44959,11 +44894,10 @@ MONDO:0011849 rdfs:subClassOf MONDO:0002254 MONDO:0004357 rdfs:subClassOf MONDO:0002358 MONDO:0100401 rdfs:subClassOf MONDO:0018874 GO:0002281 rdfs:subClassOf GO:0042116 -MONDO:0015879 rdfs:subClassOf MONDO:0000651 UBERON:0002473 rdfs:subClassOf UBERON:0019294 MONDO:0005061 rdfs:subClassOf MONDO:0004970 -UBERON:2001431 rdfs:subClassOf UBERON:0000483 UBERON:0013150 rdfs:subClassOf UBERON:0010064 +UBERON:2001431 rdfs:subClassOf UBERON:0000483 HP:0003110 rdfs:subClassOf HP:0001939 NCBITaxon:5807 rdfs:subClassOf NCBITaxon:5806 MONDO:0011145 rdfs:subClassOf MONDO:0016073 @@ -44986,7 +44920,6 @@ UBERON:0004408 rdfs:subClassOf UBERON:0004379 MONDO:0013091 rdfs:subClassOf MONDO:0020693 http://identifiers.org/hgnc/9713 rdfs:subClassOf SO:0000704 MONDO:0002207 rdfs:subClassOf MONDO:0024336 -MONDO:0004797 rdfs:subClassOf MONDO:0044967 MONDO:0015374 rdfs:subClassOf MONDO:0015953 http://identifiers.org/hgnc/32700 rdfs:subClassOf SO:0000704 MONDO:0003637 rdfs:subClassOf MONDO:0020581 @@ -45070,16 +45003,16 @@ UBERON:0013637 rdfs:subClassOf UBERON:0015212 GO:0120034 rdfs:subClassOf GO:0120032 http://identifiers.org/hgnc/8977 rdfs:subClassOf SO:0000704 MONDO:0008436 rdfs:subClassOf MONDO:0015953 -MONDO:0015037 rdfs:subClassOf MONDO:0019450 MONDO:0014260 rdfs:subClassOf MONDO:0015517 MONDO:0014617 rdfs:subClassOf MONDO:0100172 +MONDO:0015037 rdfs:subClassOf MONDO:0019450 MONDO:0017555 rdfs:subClassOf MONDO:0017985 UBERON:3010200 rdfs:subClassOf UBERON:0003504 http://identifiers.org/hgnc/4315 rdfs:subClassOf SO:0000704 MONDO:0001991 rdfs:subClassOf MONDO:0020589 ENVO:01001053 rdfs:subClassOf ENVO:01001052 -MONDO:0009774 rdfs:subClassOf MONDO:0015620 MONDO:0030973 rdfs:subClassOf MONDO:0021094 +MONDO:0009774 rdfs:subClassOf MONDO:0015620 MONDO:0006226 rdfs:subClassOf MONDO:0018502 MONDO:0013742 rdfs:subClassOf MONDO:0000032 UBERON:8300001 rdfs:subClassOf UBERON:0002102 @@ -45169,7 +45102,6 @@ MONDO:0004078 rdfs:subClassOf MONDO:0002739 MONDO:0012104 rdfs:subClassOf MONDO:0027767 MONDO:0009352 rdfs:subClassOf MONDO:0019058 MONDO:0030872 rdfs:subClassOf MONDO:0005144 -MONDO:0008351 rdfs:subClassOf MONDO:0003847 http://identifiers.org/hgnc/6251 rdfs:subClassOf SO:0000704 MONDO:0016059 rdfs:subClassOf MONDO:0019589 MONDO:0017779 rdfs:subClassOf MONDO:0019251 @@ -45295,8 +45227,8 @@ MONDO:0008583 rdfs:subClassOf MONDO:0023603 MONDO:0006783 rdfs:subClassOf MONDO:0002076 MONDO:0004255 rdfs:subClassOf MONDO:0021629 GO:0010892 rdfs:subClassOf GO:0032056 -http://identifiers.org/hgnc/11847 rdfs:subClassOf SO:0000704 MONDO:0004215 rdfs:subClassOf MONDO:0024295 +http://identifiers.org/hgnc/11847 rdfs:subClassOf SO:0000704 MONDO:0011111 rdfs:subClassOf MONDO:0003847 HP:0100306 rdfs:subClassOf HP:0100303 CL:0002312 rdfs:subClassOf CL:0000638 @@ -45333,8 +45265,8 @@ UBERON:0010303 rdfs:subClassOf UBERON:0000483 CHEBI:25696 rdfs:subClassOf CHEBI:25699 MONDO:0000262 rdfs:subClassOf MONDO:0000254 CL:0000072 rdfs:subClassOf CL:0000068 -GO:0051674 rdfs:subClassOf GO:0009987 MONDO:0004710 rdfs:subClassOf MONDO:0004647 +GO:0051674 rdfs:subClassOf GO:0009987 http://identifiers.org/hgnc/28862 rdfs:subClassOf SO:0000704 GO:0005996 rdfs:subClassOf GO:0044281 GO:0006493 rdfs:subClassOf GO:0006486 @@ -45374,9 +45306,8 @@ UBERON:0004087 rdfs:subClassOf UBERON:0003479 MONDO:0017811 rdfs:subClassOf MONDO:0019117 MONDO:0007105 rdfs:subClassOf MONDO:0005144 MONDO:0016784 rdfs:subClassOf MONDO:0021148 -UBERON:0001009 rdfs:subClassOf UBERON:0000467 MONDO:0018460 rdfs:subClassOf MONDO:0005283 -MONDO:0004431 rdfs:subClassOf MONDO:0044967 +UBERON:0001009 rdfs:subClassOf UBERON:0000467 MONDO:0015314 rdfs:subClassOf MONDO:0015504 MONDO:0001971 rdfs:subClassOf MONDO:0020537 MONDO:0033856 rdfs:subClassOf MONDO:0005554 @@ -45407,7 +45338,6 @@ HP:0001903 rdfs:subClassOf HP:0001877 MONDO:0009188 rdfs:subClassOf MONDO:0002320 MONDO:0032670 rdfs:subClassOf MONDO:0015253 MONDO:0007486 rdfs:subClassOf MONDO:0020215 -MONDO:0005275 rdfs:subClassOf MONDO:0000651 MONDO:0002464 rdfs:subClassOf MONDO:0021222 MONDO:0018879 rdfs:subClassOf MONDO:0004907 MONDO:0000162 rdfs:subClassOf MONDO:0020573 @@ -45423,9 +45353,9 @@ NCBITaxon:2732462 rdfs:subClassOf NCBITaxon:2732406 MONDO:0015213 rdfs:subClassOf MONDO:0020020 MONDO:0021364 rdfs:subClassOf MONDO:0005586 PATO:0001748 rdfs:subClassOf PATO:0001857 -UBERON:7500094 rdfs:subClassOf UBERON:0005813 MONDO:0012267 rdfs:subClassOf MONDO:0016296 MONDO:0032599 rdfs:subClassOf MONDO:0021094 +UBERON:7500094 rdfs:subClassOf UBERON:0005813 MONDO:0014605 rdfs:subClassOf MONDO:0015159 MONDO:0012426 rdfs:subClassOf MONDO:0015703 MONDO:0018515 rdfs:subClassOf MONDO:0044937 @@ -45443,8 +45373,8 @@ MONDO:0010539 rdfs:subClassOf MONDO:0018237 MONDO:0017357 rdfs:subClassOf MONDO:0005087 UBERON:0002247 rdfs:subClassOf UBERON:0015212 GO:0051495 rdfs:subClassOf GO:0010638 -MONDO:0014606 rdfs:subClassOf MONDO:0015159 MONDO:0004529 rdfs:subClassOf MONDO:0037745 +MONDO:0014606 rdfs:subClassOf MONDO:0015159 MONDO:0011174 rdfs:subClassOf MONDO:0003847 MONDO:0020336 rdfs:subClassOf MONDO:0000426 MONDO:0025159 rdfs:subClassOf MONDO:0024990 @@ -45588,8 +45518,8 @@ PCO:0000029 rdfs:subClassOf PCO:0000000 MONDO:0030976 rdfs:subClassOf MONDO:0003847 MONDO:0012765 rdfs:subClassOf MONDO:0019313 UBERON:0035228 rdfs:subClassOf UBERON:0000464 -MONDO:0001268 rdfs:subClassOf MONDO:0002021 MONDO:0014310 rdfs:subClassOf MONDO:0017027 +MONDO:0001268 rdfs:subClassOf MONDO:0002021 UBERON:0013280 rdfs:subClassOf UBERON:0004769 GO:0031343 rdfs:subClassOf GO:0048522 CL:0002425 rdfs:subClassOf CL:0000827 @@ -45598,7 +45528,6 @@ MONDO:0004650 rdfs:subClassOf MONDO:0002095 MONDO:0001374 rdfs:subClassOf MONDO:0001187 GO:0006259 rdfs:subClassOf GO:0044260 MONDO:0014323 rdfs:subClassOf MONDO:0019200 -MONDO:0016478 rdfs:subClassOf MONDO:0016998 http://identifiers.org/hgnc/9891 rdfs:subClassOf SO:0000704 HP:0010461 rdfs:subClassOf HP:0012243 HP:0001010 rdfs:subClassOf HP:0001000 @@ -45645,7 +45574,6 @@ HP:0011893 rdfs:subClassOf HP:0001881 GO:0060341 rdfs:subClassOf GO:0050794 MONDO:0003274 rdfs:subClassOf MONDO:0021350 MONDO:0007153 rdfs:subClassOf MONDO:0003847 -MONDO:0022760 rdfs:subClassOf MONDO:0020054 GO:0046851 rdfs:subClassOf GO:0046850 MONDO:0006807 rdfs:subClassOf MONDO:0005020 MONDO:0007180 rdfs:subClassOf MONDO:0003847 @@ -45669,8 +45597,8 @@ MONDO:0016127 rdfs:subClassOf MONDO:0005113 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CHEBI:76738 rdfs:subClassOf CHEBI:76725 MONDO:0005124 rdfs:subClassOf MONDO:0005372 MONDO:0010788 rdfs:subClassOf MONDO:0016387 @@ -48159,8 +48073,8 @@ http://identifiers.org/hgnc/6243 rdfs:subClassOf SO:0000704 MONDO:0018565 rdfs:subClassOf MONDO:0015934 MONDO:0019390 rdfs:subClassOf MONDO:0000603 HP:0100659 rdfs:subClassOf HP:0002597 -MONDO:0014163 rdfs:subClassOf MONDO:0015470 GO:0043207 rdfs:subClassOf GO:0009605 +MONDO:0014163 rdfs:subClassOf MONDO:0015470 UBERON:0003333 rdfs:subClassOf UBERON:0001205 MONDO:0002834 rdfs:subClassOf MONDO:0006474 MONDO:0016567 rdfs:subClassOf MONDO:0005071 @@ -48179,7 +48093,6 @@ MONDO:0000994 rdfs:subClassOf MONDO:0037003 MONDO:0004288 rdfs:subClassOf MONDO:0004953 UBERON:0003247 rdfs:subClassOf UBERON:0000483 MONDO:0007971 rdfs:subClassOf MONDO:0020018 -MONDO:0000651 rdfs:subClassOf MONDO:0000001 GO:1902532 rdfs:subClassOf GO:0009968 MONDO:0012922 rdfs:subClassOf MONDO:0100239 GO:0010186 rdfs:subClassOf GO:0010185 @@ -48208,8 +48121,8 @@ 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UBERON:0006931 rdfs:subClassOf UBERON:0001199 MONDO:0019402 rdfs:subClassOf MONDO:0017145 @@ -48670,9 +48581,9 @@ PATO:0000963 rdfs:subClassOf PATO:0000957 http://identifiers.org/hgnc/9462 rdfs:subClassOf SO:0000704 http://identifiers.org/hgnc/7427 rdfs:subClassOf SO:0000704 MONDO:0015912 rdfs:subClassOf MONDO:0002254 +HP:0000031 rdfs:subClassOf HP:0009714 MONDO:0008237 rdfs:subClassOf MONDO:0019589 MONDO:0006601 rdfs:subClassOf MONDO:0002406 -HP:0000031 rdfs:subClassOf HP:0009714 GO:2001153 rdfs:subClassOf GO:2001151 GO:0006469 rdfs:subClassOf GO:0045859 UBERON:0001471 rdfs:subClassOf UBERON:0001331 @@ -48730,15 +48641,15 @@ MONDO:0003608 rdfs:subClassOf MONDO:0002135 MONDO:0023726 rdfs:subClassOf MONDO:0006298 MONDO:0016888 rdfs:subClassOf MONDO:0016871 UBERON:0006875 rdfs:subClassOf UBERON:0010130 -MONDO:0014187 rdfs:subClassOf MONDO:0019625 UBERON:0004116 rdfs:subClassOf UBERON:0011779 +MONDO:0014187 rdfs:subClassOf MONDO:0019625 MONDO:0001607 rdfs:subClassOf MONDO:0017814 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UBERON:0010377 rdfs:subClassOf UBERON:0005291 MONDO:0013690 rdfs:subClassOf MONDO:0019117 MONDO:0007800 rdfs:subClassOf MONDO:0002254 MONDO:0044302 rdfs:subClassOf MONDO:0003847 -MONDO:0008207 rdfs:subClassOf MONDO:0044967 MONDO:0042980 rdfs:subClassOf MONDO:0000995 MONDO:0009496 rdfs:subClassOf MONDO:0003847 HP:0001419 rdfs:subClassOf HP:0001417 MONDO:0013157 rdfs:subClassOf MONDO:0000171 MONDO:0018027 rdfs:subClassOf MONDO:0005027 -GO:0090023 rdfs:subClassOf GO:0090022 ENVO:01000869 rdfs:subClassOf ENVO:01001293 +GO:0090023 rdfs:subClassOf GO:0090022 MONDO:0012447 rdfs:subClassOf MONDO:0000722 MONDO:0019485 rdfs:subClassOf MONDO:0005579 UBERON:0010165 rdfs:subClassOf UBERON:0014382 @@ -49633,8 +49538,8 @@ CHEBI:15966 rdfs:subClassOf CHEBI:18237 MONDO:0014900 rdfs:subClassOf MONDO:0018529 MONDO:0002156 rdfs:subClassOf MONDO:0002263 MONDO:0002912 rdfs:subClassOf MONDO:0021228 -MONDO:0018471 rdfs:subClassOf MONDO:0002527 NCBITaxon:8028 rdfs:subClassOf NCBITaxon:504568 +MONDO:0018471 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rdfs:subClassOf MONDO:0000508 MONDO:0020550 rdfs:subClassOf MONDO:0003578 @@ -59256,16 +59124,16 @@ GO:1902652 rdfs:subClassOf GO:0006066 MONDO:0001712 rdfs:subClassOf MONDO:0002039 MONDO:0013384 rdfs:subClassOf MONDO:0018309 MONDO:0024611 rdfs:subClassOf MONDO:0002022 -MONDO:0032705 rdfs:subClassOf MONDO:0017313 MONDO:0003685 rdfs:subClassOf MONDO:0024645 +MONDO:0032705 rdfs:subClassOf MONDO:0017313 CHEBI:22313 rdfs:subClassOf CHEBI:33559 UBERON:0015917 rdfs:subClassOf UBERON:0000029 MONDO:0033657 rdfs:subClassOf MONDO:0019046 -UBERON:0010551 rdfs:subClassOf UBERON:0015041 MONDO:0008485 rdfs:subClassOf MONDO:0021029 +UBERON:0010551 rdfs:subClassOf UBERON:0015041 CHEBI:28938 rdfs:subClassOf CHEBI:50313 -MONDO:0007674 rdfs:subClassOf MONDO:0003847 MONDO:0009513 rdfs:subClassOf MONDO:0017612 +MONDO:0007674 rdfs:subClassOf MONDO:0003847 MONDO:0002336 rdfs:subClassOf MONDO:0021166 HP:0000090 rdfs:subClassOf HP:0100957 FOODON:03460177 rdfs:subClassOf FOODON:00001015 @@ -59281,7 +59149,6 @@ 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rdfs:subClassOf GO:0098771 MONDO:0000284 rdfs:subClassOf MONDO:0100120 @@ -60883,8 +60744,8 @@ MONDO:0044342 rdfs:subClassOf MONDO:0011385 MONDO:0011452 rdfs:subClassOf MONDO:0008686 MONDO:0016190 rdfs:subClassOf MONDO:0016186 http://identifiers.org/hgnc/4122 rdfs:subClassOf SO:0000704 -MONDO:0009340 rdfs:subClassOf MONDO:0003689 UBERON:0011587 rdfs:subClassOf UBERON:0010313 +MONDO:0009340 rdfs:subClassOf MONDO:0003689 http://identifiers.org/hgnc/1777 rdfs:subClassOf SO:0000704 GO:0046390 rdfs:subClassOf GO:0019693 MONDO:0010467 rdfs:subClassOf MONDO:0017010 @@ -60896,6 +60757,7 @@ MONDO:0009853 rdfs:subClassOf MONDO:0019743 MONDO:0013867 rdfs:subClassOf MONDO:0008891 NCBITaxon:2732544 rdfs:subClassOf NCBITaxon:2732461 MONDO:0006876 rdfs:subClassOf MONDO:0000368 +MONDO:0005755 rdfs:subClassOf MONDO:0005583 MONDO:0014165 rdfs:subClassOf MONDO:0015905 MONDO:0006790 rdfs:subClassOf MONDO:0002220 MONDO:0012000 rdfs:subClassOf MONDO:0019117 @@ -60910,10 +60772,10 @@ MONDO:0000141 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GO:0031667 rdfs:subClassOf GO:0009991 -MONDO:0019913 rdfs:subClassOf MONDO:0020056 GO:0050776 rdfs:subClassOf GO:0048583 MONDO:0017681 rdfs:subClassOf MONDO:0019270 MONDO:0006207 rdfs:subClassOf MONDO:0002928 @@ -61179,8 +61039,8 @@ MONDO:0008358 rdfs:subClassOf MONDO:0018562 MONDO:0015431 rdfs:subClassOf MONDO:0700091 MONDO:0003421 rdfs:subClassOf MONDO:0021043 http://identifiers.org/hgnc/9453 rdfs:subClassOf SO:0000704 -UBERON:0009617 rdfs:subClassOf UBERON:0005253 MONDO:0007263 rdfs:subClassOf MONDO:0005267 +UBERON:0009617 rdfs:subClassOf UBERON:0005253 http://identifiers.org/hgnc/21679 rdfs:subClassOf SO:0000704 MONDO:0011060 rdfs:subClassOf MONDO:0005129 http://identifiers.org/hgnc/28434 rdfs:subClassOf SO:0000704 @@ -61348,8 +61208,9 @@ MONDO:0004012 rdfs:subClassOf MONDO:0002578 http://identifiers.org/hgnc/2340 rdfs:subClassOf SO:0000704 GO:0120316 rdfs:subClassOf GO:0003006 UBERON:0011108 rdfs:subClassOf UBERON:0002217 -MONDO:0009517 rdfs:subClassOf MONDO:0015327 MONDO:0008478 rdfs:subClassOf MONDO:0016763 +MONDO:0009517 rdfs:subClassOf MONDO:0015327 +MONDO:0020052 rdfs:subClassOf MONDO:0020049 GO:0010927 rdfs:subClassOf GO:0022607 MONDO:0017999 rdfs:subClassOf MONDO:0018609 MONDO:0004885 rdfs:subClassOf MONDO:0004884 @@ -61366,7 +61227,6 @@ MONDO:0020604 rdfs:subClassOf MONDO:0000425 MONDO:0011932 rdfs:subClassOf MONDO:0021034 MONDO:0002368 rdfs:subClassOf MONDO:0024621 MONDO:0020950 rdfs:subClassOf MONDO:0005108 -MONDO:0044965 rdfs:subClassOf MONDO:0000001 MONDO:0025485 rdfs:subClassOf MONDO:0022034 MONDO:0017373 rdfs:subClassOf MONDO:0020683 MONDO:0020511 rdfs:subClassOf MONDO:0004967 @@ -61381,11 +61241,10 @@ HP:0033354 rdfs:subClassOf HP:0003110 MONDO:0015592 rdfs:subClassOf MONDO:0015591 MONDO:0009589 rdfs:subClassOf MONDO:0018751 MONDO:0045003 rdfs:subClassOf MONDO:0003150 -UBERON:0007172 rdfs:subClassOf UBERON:0005913 MONDO:0019364 rdfs:subClassOf MONDO:0001195 +UBERON:0007172 rdfs:subClassOf UBERON:0005913 MONDO:0008740 rdfs:subClassOf MONDO:0043005 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rdfs:subClassOf MONDO:0018570 MONDO:0009794 rdfs:subClassOf MONDO:0015375 @@ -61525,8 +61383,8 @@ MONDO:0009772 rdfs:subClassOf MONDO:0003847 GO:0030885 rdfs:subClassOf GO:0002694 MONDO:0007045 rdfs:subClassOf MONDO:0015334 HP:0002812 rdfs:subClassOf HP:0003367 -NCBITaxon:28845 rdfs:subClassOf NCBITaxon:2267273 MONDO:0012529 rdfs:subClassOf MONDO:0015253 +NCBITaxon:28845 rdfs:subClassOf NCBITaxon:2267273 MONDO:0015326 rdfs:subClassOf MONDO:0043008 MONDO:0002140 rdfs:subClassOf MONDO:0018078 MONDO:0008327 rdfs:subClassOf MONDO:0018174 @@ -61560,7 +61418,6 @@ MONDO:0012370 rdfs:subClassOf MONDO:0019588 MONDO:0006988 rdfs:subClassOf MONDO:0003804 UBERON:0035554 rdfs:subClassOf UBERON:0004151 GO:1905881 rdfs:subClassOf GO:1905879 -MONDO:0020055 rdfs:subClassOf MONDO:0020049 MONDO:0003756 rdfs:subClassOf MONDO:0002229 http://identifiers.org/hgnc/2312 rdfs:subClassOf SO:0000704 UBERON:0001982 rdfs:subClassOf UBERON:0001981 @@ -61597,6 +61454,7 @@ MONDO:0044651 rdfs:subClassOf MONDO:0000508 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MONDO:0008963 rdfs:subClassOf MONDO:0015541 MONDO:0015073 rdfs:subClassOf MONDO:0015509 -MONDO:0010215 rdfs:subClassOf MONDO:0016354 http://identifiers.org/hgnc/9811 rdfs:subClassOf SO:0000704 +MONDO:0010215 rdfs:subClassOf MONDO:0016354 MONDO:0005134 rdfs:subClassOf MONDO:0005156 GO:0002701 rdfs:subClassOf GO:0010629 GO:0002866 rdfs:subClassOf GO:0002864 @@ -61886,8 +61741,8 @@ MONDO:0010223 rdfs:subClassOf MONDO:0010622 MONDO:0044201 rdfs:subClassOf MONDO:0015974 MONDO:0021479 rdfs:subClassOf MONDO:0021523 MONDO:0002552 rdfs:subClassOf MONDO:0002545 -MONDO:0013541 rdfs:subClassOf MONDO:0000904 MONDO:0003360 rdfs:subClassOf MONDO:0003361 +MONDO:0013541 rdfs:subClassOf MONDO:0000904 MONDO:0018761 rdfs:subClassOf MONDO:0000376 MONDO:0012832 rdfs:subClassOf MONDO:0005265 MONDO:0010672 rdfs:subClassOf MONDO:0024255 @@ -62015,13 +61870,13 @@ MONDO:0009670 rdfs:subClassOf MONDO:0017436 MONDO:0013110 rdfs:subClassOf MONDO:0017313 MONDO:0007794 rdfs:subClassOf MONDO:0014103 MONDO:0014497 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NCBITaxon:715962 MONDO:0016046 rdfs:subClassOf MONDO:0019054 @@ -62150,7 +62002,6 @@ MONDO:0000009 rdfs:subClassOf MONDO:0003847 UBERON:0010574 rdfs:subClassOf UBERON:0010699 MONDO:0004109 rdfs:subClassOf MONDO:0004427 MONDO:0004262 rdfs:subClassOf MONDO:0002483 -MONDO:0024623 rdfs:subClassOf MONDO:0021059 CL:0000638 rdfs:subClassOf CL:0000637 MONDO:0030701 rdfs:subClassOf MONDO:0000589 MONDO:0021935 rdfs:subClassOf MONDO:0005657 @@ -62167,8 +62018,8 @@ GO:0048608 rdfs:subClassOf GO:0048856 CL:0000082 rdfs:subClassOf CL:0000066 http://identifiers.org/hgnc/11919 rdfs:subClassOf SO:0000704 MONDO:0009798 rdfs:subClassOf MONDO:0000508 -GO:0140657 rdfs:subClassOf GO:0003674 MONDO:0019337 rdfs:subClassOf MONDO:0007179 +GO:0140657 rdfs:subClassOf GO:0003674 GO:0140631 rdfs:subClassOf GO:0004857 UBERON:0005026 rdfs:subClassOf UBERON:0000344 CL:1000615 rdfs:subClassOf CL:0002584 @@ -62187,11 +62038,10 @@ MONDO:0002612 rdfs:subClassOf MONDO:0005384 UBERON:0009879 rdfs:subClassOf UBERON:0009878 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MONDO:0020167 rdfs:subClassOf MONDO:0020163 MONDO:0016033 rdfs:subClassOf MONDO:0019054 @@ -64010,11 +63853,11 @@ http://identifiers.org/hgnc/11908 rdfs:subClassOf SO:0000704 MONDO:0024456 rdfs:subClassOf MONDO:0011119 MONDO:0017812 rdfs:subClassOf MONDO:0019716 UBERON:0004199 rdfs:subClassOf UBERON:0005423 -UBERON:0015228 rdfs:subClassOf UBERON:0003103 MONDO:0003764 rdfs:subClassOf MONDO:0003761 MONDO:0004990 rdfs:subClassOf MONDO:0006116 GO:0045836 rdfs:subClassOf GO:0051785 MONDO:0012783 rdfs:subClassOf MONDO:0005500 +UBERON:0015228 rdfs:subClassOf UBERON:0003103 HP:0003560 rdfs:subClassOf HP:0011805 NCBITaxon:8048 rdfs:subClassOf NCBITaxon:8045 MONDO:0022742 rdfs:subClassOf MONDO:0004979 @@ -64141,8 +63984,8 @@ NCBITaxon:1897064 rdfs:subClassOf NCBITaxon:5206 GO:0071840 rdfs:subClassOf GO:0009987 MONDO:0010569 rdfs:subClassOf MONDO:0017140 UBERON:0010400 rdfs:subClassOf UBERON:0013126 -GO:0010678 rdfs:subClassOf GO:0010677 GO:0090316 rdfs:subClassOf GO:0032388 +GO:0010678 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MONDO:0005632 rdfs:subClassOf MONDO:0002254 MONDO:0009706 rdfs:subClassOf MONDO:0044970 @@ -66215,8 +66049,8 @@ CHEBI:16670 rdfs:subClassOf CHEBI:50047 UBERON:0006800 rdfs:subClassOf UBERON:0000015 UBERON:0000199 rdfs:subClassOf UBERON:0005055 MONDO:0011408 rdfs:subClassOf MONDO:0017914 -HP:0025015 rdfs:subClassOf HP:0002597 CL:0002370 rdfs:subClassOf CL:0000160 +HP:0025015 rdfs:subClassOf HP:0002597 MONDO:0003172 rdfs:subClassOf MONDO:0006500 http://identifiers.org/hgnc/492 rdfs:subClassOf SO:0000704 GO:0006417 rdfs:subClassOf GO:2000112 @@ -66278,7 +66112,6 @@ http://identifiers.org/hgnc/13222 rdfs:subClassOf SO:0000704 MONDO:0044634 rdfs:subClassOf MONDO:0019589 MONDO:0018953 rdfs:subClassOf MONDO:0020018 http://identifiers.org/hgnc/9652 rdfs:subClassOf SO:0000704 -MONDO:0044339 rdfs:subClassOf MONDO:0044965 MONDO:0021524 rdfs:subClassOf MONDO:0005165 MONDO:0018160 rdfs:subClassOf MONDO:0019117 MONDO:0018343 rdfs:subClassOf MONDO:0019117 @@ -66369,8 +66202,8 @@ 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MONDO:0015013 rdfs:subClassOf MONDO:0019200 @@ -73849,8 +73658,8 @@ MONDO:0014510 rdfs:subClassOf MONDO:0005328 http://identifiers.org/hgnc/9403 rdfs:subClassOf SO:0000704 MONDO:0004795 rdfs:subClassOf MONDO:0021666 MONDO:0019882 rdfs:subClassOf MONDO:0016959 -MONDO:0008007 rdfs:subClassOf MONDO:0002257 CHEBI:23359 rdfs:subClassOf CHEBI:35618 +MONDO:0008007 rdfs:subClassOf MONDO:0002257 MONDO:0007205 rdfs:subClassOf MONDO:0019060 MONDO:0015769 rdfs:subClassOf MONDO:0016943 GO:0034655 rdfs:subClassOf GO:0046700 @@ -73890,7 +73699,6 @@ MONDO:0021932 rdfs:subClassOf MONDO:0005459 ENVO:03000055 rdfs:subClassOf ENVO:02500031 NBO:0000339 rdfs:subClassOf NBO:0000317 MONDO:0021012 rdfs:subClassOf MONDO:0005445 -MONDO:0044342 rdfs:subClassOf MONDO:0000651 http://identifiers.org/hgnc/24415 rdfs:subClassOf SO:0000704 MONDO:0003060 rdfs:subClassOf MONDO:0002691 GO:0045165 rdfs:subClassOf GO:0048869 @@ -73902,8 +73710,8 @@ CHEBI:16827 rdfs:subClassOf CHEBI:35346 MONDO:0000888 rdfs:subClassOf 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rdfs:subClassOf MONDO:0700007 MONDO:0004829 rdfs:subClassOf MONDO:0024879 UBERON:0001175 rdfs:subClassOf UBERON:0003703 @@ -74000,13 +73806,13 @@ MONDO:0002828 rdfs:subClassOf MONDO:0002829 http://identifiers.org/hgnc/18060 rdfs:subClassOf SO:0000704 http://identifiers.org/hgnc/4446 rdfs:subClassOf SO:0000704 MONDO:0014384 rdfs:subClassOf MONDO:0003037 -MONDO:0025598 rdfs:subClassOf MONDO:0005701 MONDO:0002640 rdfs:subClassOf MONDO:0002135 +MONDO:0025598 rdfs:subClassOf MONDO:0005701 MONDO:0001420 rdfs:subClassOf MONDO:0002633 MONDO:0003110 rdfs:subClassOf MONDO:0024666 MONDO:0016370 rdfs:subClassOf MONDO:0005559 -UBERON:0005225 rdfs:subClassOf UBERON:0000483 http://identifiers.org/hgnc/16001 rdfs:subClassOf SO:0000704 +UBERON:0005225 rdfs:subClassOf UBERON:0000483 NCBITaxon:4107 rdfs:subClassOf NCBITaxon:424574 MONDO:0007993 rdfs:subClassOf MONDO:0015160 MONDO:0007319 rdfs:subClassOf MONDO:0005554 @@ -74016,7 +73822,6 @@ MONDO:0015688 rdfs:subClassOf MONDO:0015756 MONDO:0011994 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NCBITaxon:194 MONDO:0019111 rdfs:subClassOf MONDO:0002249 MONDO:0011660 rdfs:subClassOf MONDO:0019587 @@ -74275,8 +74079,8 @@ MONDO:0100065 rdfs:subClassOf MONDO:0100064 MONDO:0002664 rdfs:subClassOf MONDO:0002665 MONDO:0018572 rdfs:subClassOf MONDO:0000508 MONDO:0010733 rdfs:subClassOf MONDO:0019046 -MONDO:0008535 rdfs:subClassOf MONDO:0019180 http://identifiers.org/hgnc/16791 rdfs:subClassOf SO:0000704 +MONDO:0008535 rdfs:subClassOf MONDO:0019180 MONDO:0018956 rdfs:subClassOf MONDO:0700007 MONDO:0011679 rdfs:subClassOf MONDO:0015469 MONDO:0007561 rdfs:subClassOf MONDO:0016648 @@ -74358,8 +74162,8 @@ MONDO:0006389 rdfs:subClassOf MONDO:0005212 CHEBI:50817 rdfs:subClassOf CHEBI:50816 MONDO:0007837 rdfs:subClassOf MONDO:0043005 MONDO:0000075 rdfs:subClassOf MONDO:0020128 -HP:0009815 rdfs:subClassOf HP:0009115 MONDO:0003281 rdfs:subClassOf MONDO:0011366 +HP:0009815 rdfs:subClassOf HP:0009115 NCBITaxon:2750822 rdfs:subClassOf NCBITaxon:120793 MONDO:0001687 rdfs:subClassOf MONDO:0005129 MONDO:0002670 rdfs:subClassOf MONDO:0017590 @@ -74373,8 +74177,8 @@ UBERON:0005323 rdfs:subClassOf UBERON:0003104 GO:1904951 rdfs:subClassOf GO:0048518 GO:0032869 rdfs:subClassOf GO:0071375 UBERON:0004412 rdfs:subClassOf UBERON:0004380 -MONDO:0009285 rdfs:subClassOf MONDO:0019241 CHEBI:38313 rdfs:subClassOf CHEBI:38101 +MONDO:0009285 rdfs:subClassOf MONDO:0019241 MONDO:0001212 rdfs:subClassOf MONDO:0005441 MONDO:0008332 rdfs:subClassOf MONDO:0019565 GO:0019693 rdfs:subClassOf GO:0006796 @@ -74406,7 +74210,6 @@ MONDO:0100189 rdfs:subClassOf MONDO:0019052 MONDO:0013184 rdfs:subClassOf MONDO:0045032 GO:1903708 rdfs:subClassOf GO:0051240 MONDO:0006572 rdfs:subClassOf MONDO:0002406 -MONDO:0019923 rdfs:subClassOf MONDO:0020057 MONDO:0020548 rdfs:subClassOf MONDO:0005328 MONDO:0004608 rdfs:subClassOf MONDO:0021364 UBERON:0009213 rdfs:subClassOf UBERON:0009210 @@ -74441,11 +74244,11 @@ MONDO:0043472 rdfs:subClassOf MONDO:0021058 PATO:0015023 rdfs:subClassOf PATO:0002303 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MONDO:0100035 rdfs:subClassOf MONDO:0005027 MONDO:0014455 rdfs:subClassOf MONDO:0020225 @@ -78949,12 +78731,12 @@ http://identifiers.org/hgnc/3072 rdfs:subClassOf SO:0000704 MONDO:0018263 rdfs:subClassOf MONDO:0018262 NCBITaxon:55194 rdfs:subClassOf NCBITaxon:55193 UBERON:0003358 rdfs:subClassOf UBERON:0003235 -MONDO:0005807 rdfs:subClassOf MONDO:0003780 MONDO:0020474 rdfs:subClassOf MONDO:0018230 -GO:0050905 rdfs:subClassOf GO:0050877 +MONDO:0005807 rdfs:subClassOf MONDO:0003780 MONDO:0018443 rdfs:subClassOf MONDO:0015159 MONDO:0033652 rdfs:subClassOf MONDO:0033885 MONDO:0033123 rdfs:subClassOf MONDO:0019516 +GO:0050905 rdfs:subClassOf GO:0050877 MONDO:0018153 rdfs:subClassOf MONDO:0017955 MONDO:0015850 rdfs:subClassOf MONDO:0015848 MONDO:0033669 rdfs:subClassOf MONDO:0018997 @@ -79031,11 +78813,10 @@ UBERON:0000011 rdfs:subClassOf UBERON:0010314 CHEBI:35472 rdfs:subClassOf CHEBI:67079 MONDO:0030917 rdfs:subClassOf MONDO:0015802 UBERON:0000006 rdfs:subClassOf UBERON:0034922 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MONDO:0020331 MONDO:0002933 rdfs:subClassOf MONDO:0000833 @@ -82917,8 +82682,8 @@ UBERON:0002018 rdfs:subClassOf UBERON:0012275 UBERON:0013139 rdfs:subClassOf UBERON:0013765 MONDO:0018187 rdfs:subClassOf MONDO:0021147 MONDO:0003355 rdfs:subClassOf MONDO:0005058 -CHR:9606-chr16p rdfs:subClassOf GO:0098687 MONDO:0054696 rdfs:subClassOf MONDO:0021094 +CHR:9606-chr16p rdfs:subClassOf GO:0098687 GO:0031325 rdfs:subClassOf GO:0048522 MONDO:0009702 rdfs:subClassOf MONDO:0003847 ECTO:9000156 rdfs:subClassOf ECTO:9000172 @@ -82936,6 +82701,7 @@ MONDO:0021607 rdfs:subClassOf MONDO:0003382 MONDO:0000649 rdfs:subClassOf MONDO:0005872 MONDO:0005688 rdfs:subClassOf MONDO:0000314 MONDO:0030883 rdfs:subClassOf MONDO:0007275 +UBERON:8410028 rdfs:subClassOf UBERON:0001980 MONDO:0005121 rdfs:subClassOf MONDO:0005113 CHEBI:23018 rdfs:subClassOf CHEBI:76907 MONDO:0021137 rdfs:subClassOf MONDO:0021135 @@ -82944,7 +82710,6 @@ GO:0042701 rdfs:subClassOf GO:0035929 CL:1000546 rdfs:subClassOf CL:1000497 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rdfs:subClassOf SO:0000704 UBERON:0008337 rdfs:subClassOf UBERON:0000475 +http://identifiers.org/hgnc/9832 rdfs:subClassOf SO:0000704 MONDO:0015150 rdfs:subClassOf MONDO:0002254 UBERON:0004200 rdfs:subClassOf UBERON:0000064 MONDO:0008275 rdfs:subClassOf MONDO:0019707 @@ -84529,6 +84290,7 @@ UBERON:0012273 rdfs:subClassOf UBERON:0004921 MONDO:0009074 rdfs:subClassOf MONDO:0000508 MONDO:0022529 rdfs:subClassOf MONDO:0005784 MONDO:0003652 rdfs:subClassOf MONDO:0008171 +MONDO:0002657 rdfs:subClassOf MONDO:0000001 MONDO:0011143 rdfs:subClassOf MONDO:0015993 GO:0035929 rdfs:subClassOf GO:0060986 UBERON:0014908 rdfs:subClassOf UBERON:0002616 @@ -84645,9 +84407,9 @@ ENVO:01001788 rdfs:subClassOf ENVO:01000320 MONDO:0100389 rdfs:subClassOf MONDO:0018874 MONDO:0010974 rdfs:subClassOf MONDO:0019006 MONDO:0013690 rdfs:subClassOf MONDO:0016377 -MONDO:0009134 rdfs:subClassOf MONDO:0019403 MONDO:0010305 rdfs:subClassOf MONDO:0015327 MONDO:0006894 rdfs:subClassOf MONDO:0006816 +MONDO:0009134 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_:B172e60a9X2Dbe1dX2D4205X2Da058X2D92a912fed3f4genid9332 MONDO:0019875 rdfs:subClassOf MONDO:0007534 UBERON:0001228 rdfs:subClassOf UBERON:0000064 MONDO:0010826 rdfs:subClassOf MONDO:0000414 @@ -85120,8 +84881,8 @@ CHEBI:36043 rdfs:subClassOf CHEBI:33281 NCBITaxon:27841 rdfs:subClassOf NCBITaxon:27871 UBERON:0004806 rdfs:subClassOf UBERON:0034969 MONDO:0024336 rdfs:subClassOf MONDO:0002198 -MONDO:0000874 rdfs:subClassOf MONDO:0003659 MONDO:0006282 rdfs:subClassOf MONDO:0005089 +MONDO:0000874 rdfs:subClassOf MONDO:0003659 CL:2000027 rdfs:subClassOf CL:0000118 MONDO:0022938 rdfs:subClassOf MONDO:0002254 MONDO:0043127 rdfs:subClassOf MONDO:0015469 @@ -85132,8 +84893,8 @@ MONDO:0011604 rdfs:subClassOf MONDO:0020247 MONDO:0020790 rdfs:subClassOf MONDO:0011810 MONDO:0044321 rdfs:subClassOf MONDO:0003847 MONDO:0032931 rdfs:subClassOf MONDO:0003847 -http://identifiers.org/hgnc/16084 rdfs:subClassOf SO:0000704 MONDO:0017256 rdfs:subClassOf MONDO:0006651 +http://identifiers.org/hgnc/16084 rdfs:subClassOf SO:0000704 MONDO:0019187 rdfs:subClassOf MONDO:0015246 http://identifiers.org/hgnc/12410 rdfs:subClassOf SO:0000704 UBERON:0004347 rdfs:subClassOf UBERON:0004357 @@ -85153,8 +84914,8 @@ MONDO:0014085 rdfs:subClassOf MONDO:0016349 MONDO:0015401 rdfs:subClassOf MONDO:0015500 MONDO:0019675 rdfs:subClassOf MONDO:0003847 MONDO:0012199 rdfs:subClassOf MONDO:0020364 -UBERON:0000981 rdfs:subClassOf UBERON:0015052 http://identifiers.org/hgnc/2745 rdfs:subClassOf SO:0000704 +UBERON:0000981 rdfs:subClassOf UBERON:0015052 MONDO:0018188 rdfs:subClassOf MONDO:0000147 GO:0046928 rdfs:subClassOf GO:0051588 MONDO:0010800 rdfs:subClassOf MONDO:0018105 @@ -85181,7 +84942,6 @@ MONDO:0008522 rdfs:subClassOf MONDO:0003847 MONDO:0005167 rdfs:subClassOf MONDO:0006209 HP:0000177 rdfs:subClassOf HP:0000159 UBERON:0035480 rdfs:subClassOf UBERON:0036215 -MONDO:0016998 rdfs:subClassOf MONDO:0020049 MONDO:0004440 rdfs:subClassOf MONDO:0021232 HP:0004325 rdfs:subClassOf HP:0004323 CHR:9606-chr16p1 rdfs:subClassOf GO:0098687 @@ -85252,13 +85012,14 @@ MONDO:0032819 rdfs:subClassOf MONDO:0000045 UBERON:0006915 rdfs:subClassOf UBERON:0006914 MONDO:0005292 rdfs:subClassOf MONDO:0002269 UBERON:0010561 rdfs:subClassOf UBERON:0015041 +MONDO:0011747 rdfs:subClassOf MONDO:0020573 MONDO:0000974 rdfs:subClassOf MONDO:0005106 MONDO:0036976 rdfs:subClassOf MONDO:0005165 http://identifiers.org/hgnc/6637 rdfs:subClassOf SO:0000704 MONDO:0010451 rdfs:subClassOf MONDO:0019181 -UBERON:0006858 rdfs:subClassOf UBERON:0004120 MONDO:0012564 rdfs:subClassOf MONDO:0003847 MONDO:0016596 rdfs:subClassOf MONDO:0000508 +UBERON:0006858 rdfs:subClassOf UBERON:0004120 MONDO:0015066 rdfs:subClassOf MONDO:0024501 MONDO:0004635 rdfs:subClassOf MONDO:0005806 MONDO:0013719 rdfs:subClassOf MONDO:0009032 @@ -85302,8 +85063,8 @@ NCBITaxon:11089 rdfs:subClassOf NCBITaxon:11051 MONDO:0700123 rdfs:subClassOf MONDO:0700120 MONDO:0015775 rdfs:subClassOf MONDO:0019701 MONDO:0000248 rdfs:subClassOf MONDO:0005358 -MONDO:0012726 rdfs:subClassOf MONDO:0018788 MONDO:0024676 rdfs:subClassOf MONDO:0036511 +MONDO:0012726 rdfs:subClassOf MONDO:0018788 MONDO:0019902 rdfs:subClassOf MONDO:0015246 UBERON:0004803 rdfs:subClassOf UBERON:0000483 MONDO:0005187 rdfs:subClassOf MONDO:0005794 @@ -85365,9 +85126,9 @@ MONDO:0013137 rdfs:subClassOf MONDO:0008982 MONDO:0005616 rdfs:subClassOf MONDO:0003036 MONDO:0024666 rdfs:subClassOf MONDO:0021634 MONDO:0003960 rdfs:subClassOf MONDO:0003050 +MONDO:0030056 rdfs:subClassOf MONDO:0100238 MONDO:0003879 rdfs:subClassOf MONDO:0008170 NCBITaxon:7197 rdfs:subClassOf NCBITaxon:41831 -MONDO:0030056 rdfs:subClassOf MONDO:0100238 UBERON:0005327 rdfs:subClassOf UBERON:0005330 MONDO:0001567 rdfs:subClassOf MONDO:0005240 MONDO:0004684 rdfs:subClassOf MONDO:0016037 @@ -85411,8 +85172,8 @@ CHEBI:61313 rdfs:subClassOf CHEBI:35341 GO:0032991 rdfs:subClassOf GO:0005575 UBERON:0006757 rdfs:subClassOf UBERON:0002050 NCBITaxon:562 rdfs:subClassOf NCBITaxon:561 -UBERON:0005340 rdfs:subClassOf UBERON:0019294 GO:0002686 rdfs:subClassOf GO:0002683 +UBERON:0005340 rdfs:subClassOf UBERON:0019294 MONDO:0060732 rdfs:subClassOf MONDO:0010110 UBERON:0019263 rdfs:subClassOf UBERON:0003528 MONDO:0009371 rdfs:subClassOf MONDO:0004736 @@ -85496,8 +85257,8 @@ GO:0046173 rdfs:subClassOf GO:0019751 MONDO:0018662 rdfs:subClassOf MONDO:0015262 MONDO:0023035 rdfs:subClassOf MONDO:0002254 MONDO:0005558 rdfs:subClassOf MONDO:0002259 -MONDO:0011584 rdfs:subClassOf MONDO:0017891 MONDO:0020121 rdfs:subClassOf MONDO:0019056 +MONDO:0011584 rdfs:subClassOf MONDO:0017891 MONDO:0007610 rdfs:subClassOf MONDO:0019287 GO:0006139 rdfs:subClassOf GO:0046483 HP:0000829 rdfs:subClassOf HP:0011767 @@ -85582,8 +85343,8 @@ MONDO:0022405 rdfs:subClassOf MONDO:0022410 MONDO:0015197 rdfs:subClassOf MONDO:0020293 MONDO:0014716 rdfs:subClassOf MONDO:0002320 MONDO:0014195 rdfs:subClassOf MONDO:0019118 -GO:0019852 rdfs:subClassOf GO:0019752 UBERON:0010842 rdfs:subClassOf UBERON:0035129 +GO:0019852 rdfs:subClassOf GO:0019752 MONDO:0012812 rdfs:subClassOf MONDO:0100062 MONDO:0003168 rdfs:subClassOf MONDO:0021499 CL:0002539 rdfs:subClassOf CL:0000359 @@ -85597,8 +85358,8 @@ UBERON:0001771 rdfs:subClassOf UBERON:0000464 MONDO:0024292 rdfs:subClassOf MONDO:0004335 MONDO:0020555 rdfs:subClassOf MONDO:0011014 MONDO:0020531 rdfs:subClassOf MONDO:0017713 -ECTO:0000485 rdfs:subClassOf ExO:0000002 MONDO:0009329 rdfs:subClassOf MONDO:0009937 +ECTO:0000485 rdfs:subClassOf ExO:0000002 MONDO:0008142 rdfs:subClassOf MONDO:0018385 MONDO:0006711 rdfs:subClassOf MONDO:0005904 CL:0002436 rdfs:subClassOf CL:0000624 @@ -85692,8 +85453,8 @@ MONDO:0021522 rdfs:subClassOf MONDO:0021580 GO:0045760 rdfs:subClassOf GO:0048518 MONDO:0005729 rdfs:subClassOf MONDO:0004664 MONDO:0007218 rdfs:subClassOf MONDO:0021004 -NCBITaxon:1723728 rdfs:subClassOf NCBITaxon:151341 CHEBI:35508 rdfs:subClassOf CHEBI:35507 +NCBITaxon:1723728 rdfs:subClassOf NCBITaxon:151341 MONDO:0010314 rdfs:subClassOf MONDO:0020340 GO:0071692 rdfs:subClassOf GO:0008104 GO:0045820 rdfs:subClassOf GO:1903579 @@ -85732,8 +85493,8 @@ MONDO:0060714 rdfs:subClassOf MONDO:0018891 MONDO:0015776 rdfs:subClassOf MONDO:0019701 MONDO:0023143 rdfs:subClassOf MONDO:0005747 HP:0031691 rdfs:subClassOf HP:0032169 -MONDO:0006694 rdfs:subClassOf MONDO:0005311 MONDO:0006291 rdfs:subClassOf MONDO:0002132 +MONDO:0006694 rdfs:subClassOf MONDO:0005311 MONDO:0009192 rdfs:subClassOf MONDO:0019052 UBERON:0002498 rdfs:subClassOf UBERON:4100000 MONDO:0000605 rdfs:subClassOf MONDO:0005046 diff --git a/reports/obsoletes.tsv b/reports/obsoletes.tsv index 2822ee0e4c..d19b91284a 100644 --- a/reports/obsoletes.tsv +++ b/reports/obsoletes.tsv @@ -266,7 +266,6 @@ MONDO:0000132 MONDO:0000134 "MONDO:0000507" MONDO:0000135 "MONDO:0016516" MONDO:0000139 "MONDO:0017950" -MONDO:0000140 MONDO:0016558 MONDO:0000142 "MONDO:0019042" MONDO:0000143 MONDO:0000145 @@ -408,8 +407,6 @@ MONDO:0000512 "MONDO:0017795" MONDO:0000522 "MONDO:0015798" MONDO:0000523 "MONDO:0006172" MONDO:0000526 "MONDO:0006091" -MONDO:0000528 MONDO:0005008 -MONDO:0000529 MONDO:0005484 MONDO:0000533 "MONDO:0015867" MONDO:0000537 "MONDO:0006181" MONDO:0000538 "MONDO:0006466" @@ -420,7 +417,6 @@ MONDO:0000555 "MONDO:0017324" MONDO:0000556 "MONDO:0015244" MONDO:0000557 "MONDO:0100309" MONDO:0000558 "MONDO:0017845" -MONDO:0000559 MONDO:0016612 MONDO:0000560 "MONDO:0010847" MONDO:0000562 MONDO:0000564 "MONDO:0009133" @@ -429,7 +425,6 @@ MONDO:0000567 "MONDO:0007361" MONDO:0000570 "MONDO:0011225" MONDO:0000571 "MONDO:0012426" MONDO:0000574 "MONDO:0015702" -MONDO:0000575 MONDO:0015701 MONDO:0000576 "MONDO:0014280" MONDO:0000578 "MONDO:0014276" MONDO:0000579 "MONDO:0014168" @@ -449,6 +444,7 @@ MONDO:0000622 "MONDO:0005165" MONDO:0000623 "MONDO:0005165" MONDO:0000635 "MONDO:0018936" MONDO:0000641 "MONDO:0007959" +MONDO:0000651 MONDO:0000655 "MONDO:0019464" MONDO:0000656 "MONDO:0015045" MONDO:0000657 "MONDO:0015046" @@ -514,11 +510,8 @@ MONDO:0000805 MONDO:0000806 MONDO:0000808 "MONDO:0006243" MONDO:0000810 "MONDO:0010542" -MONDO:0000817 MONDO:0010015 MONDO:0000818 "MONDO:0013965" -MONDO:0000821 MONDO:0011305 MONDO:0000822 "MONDO:0016537" -MONDO:0000823 MONDO:0012705 MONDO:0000825 "MONDO:0019046" MONDO:0000826 "MONDO:0010306" MONDO:0000829 "MONDO:0017279" @@ -529,8 +522,6 @@ MONDO:0000835 "MONDO:0005380" MONDO:0000838 "MONDO:0019040" MONDO:0000839 MONDO:0000841 "MONDO:0009943" -MONDO:0000842 MONDO:0007982 -MONDO:0000843 MONDO:0009833 MONDO:0000844 "MONDO:0016761" MONDO:0000846 "MONDO:0009031" MONDO:0000847 "MONDO:0009940" @@ -568,7 +559,6 @@ MONDO:0000905 "MONDO:0000193" MONDO:0000906 "MONDO:0011194" MONDO:0000907 "MONDO:0008770" MONDO:0000911 -MONDO:0000915 MONDO:0007930 MONDO:0000917 "MONDO:0019962" MONDO:0000932 "MONDO:0005208" MONDO:0000982 "MONDO:0014624" @@ -598,7 +588,6 @@ MONDO:0001140 "MONDO:0018071" MONDO:0001189 "MONDO:0019086" MONDO:0001193 "HP:0007777" MONDO:0001194 "MONDO:0019360" -MONDO:0001201 MONDO:0010811 MONDO:0001248 "MONDO:0019173" MONDO:0001253 MONDO:0001254 @@ -633,9 +622,7 @@ MONDO:0001581 "MONDO:0018983" MONDO:0001587 "MONDO:0018938" MONDO:0001589 "HP:0100672" MONDO:0001599 "MONDO:0019191" -MONDO:0001605 MONDO:0003730 MONDO:0001619 "MONDO:0019633" -MONDO:0001659 MONDO:0021259 MONDO:0001662 "HP:0011712" MONDO:0001669 "MONDO:0008903" MONDO:0001675 "MONDO:0019142" @@ -787,14 +774,11 @@ MONDO:0002709 "MONDO:0018800" MONDO:0002711 "MONDO:0006085" MONDO:0002723 "MONDO:0019023" MONDO:0002725 "MONDO:0019315" -MONDO:0002733 MONDO:0024432 MONDO:0002743 "MONDO:0006067" MONDO:0002753 "MONDO:0006309" MONDO:0002767 "MONDO:0019145" -MONDO:0002773 MONDO:0016706 MONDO:0002774 "MONDO:0016706" MONDO:0002777 "MONDO:0018667" -MONDO:0002780 MONDO:0006423 MONDO:0002784 "MONDO:0006175" MONDO:0002793 "MONDO:0006300" MONDO:0002818 "MONDO:0006639" @@ -882,7 +866,6 @@ MONDO:0003267 "MONDO:0016699" MONDO:0003269 "MONDO:0016693" MONDO:0003270 "MONDO:0016733" MONDO:0003309 "MONDO:0006294" -MONDO:0003323 MONDO:0006144 MONDO:0003324 "MONDO:0006432" MONDO:0003338 "MONDO:0019384" MONDO:0003339 "MONDO:0019799" @@ -924,15 +907,12 @@ MONDO:0003560 "MONDO:0005614" MONDO:0003566 "MONDO:0016718" MONDO:0003571 "HP:0000359" MONDO:0003571 "MONDO:0002467" -MONDO:0003576 MONDO:0005575 MONDO:0003577 "MONDO:0006176" MONDO:0003580 "MONDO:0006446" MONDO:0003583 "MONDO:0006097" -MONDO:0003597 MONDO:0013280 MONDO:0003605 "MONDO:0006076" MONDO:0003613 "MONDO:0006183" MONDO:0003623 "MONDO:0006346" -MONDO:0003625 MONDO:0005211 MONDO:0003642 "MONDO:0018166" MONDO:0003657 "MONDO:0019483" MONDO:0003662 "MONDO:0006335" @@ -966,7 +946,6 @@ MONDO:0003961 "MONDO:0006138" MONDO:0003974 "MONDO:0016757" MONDO:0003977 "MONDO:0016688" MONDO:0003981 "MONDO:0006142" -MONDO:0003986 MONDO:0017814 MONDO:0004002 "MONDO:0019035" MONDO:0004003 "MONDO:0018525" MONDO:0004011 "MONDO:0018961" @@ -975,7 +954,6 @@ MONDO:0004023 "MONDO:0018666" MONDO:0004025 "MONDO:0006426" MONDO:0004027 "MONDO:0005564" MONDO:0004029 "MONDO:0006482" -MONDO:0004036 MONDO:0006459 MONDO:0004061 "MONDO:0009637" MONDO:0004068 "MONDO:0000001" MONDO:0004070 "MONDO:0016689" @@ -988,7 +966,6 @@ MONDO:0004115 "MONDO:0006219" MONDO:0004119 "MONDO:0006197" MONDO:0004121 "MONDO:0006390" MONDO:0004123 "MONDO:0006265" -MONDO:0004137 MONDO:0018492 MONDO:0004138 "MONDO:0006297" MONDO:0004154 "MONDO:0018843" MONDO:0004157 "MONDO:0018523" @@ -1001,7 +978,6 @@ MONDO:0004282 "MONDO:0006189" MONDO:0004284 MONDO:0004300 "MONDO:0002631" MONDO:0004342 "MONDO:0006479" -MONDO:0004347 MONDO:0018523 MONDO:0004362 "MONDO:0005917" MONDO:0004388 "MONDO:0020513" MONDO:0004391 "MONDO:0012825" @@ -1056,8 +1032,6 @@ MONDO:0004887 "MONDO:0019170" MONDO:0004906 "MONDO:0009249" MONDO:0004908 "MONDO:0018116" MONDO:0004912 "MONDO:0020121" -MONDO:0004915 MONDO:0005076 -MONDO:0004916 MONDO:0006906 MONDO:0004921 "MONDO:0017882" MONDO:0004945 "MONDO:0015691" MONDO:0004954 "MONDO:0007650" @@ -1101,14 +1075,12 @@ MONDO:0005263 "MONDO:0002009" MONDO:0005268 "MONDO:0007699" MONDO:0005270 "MONDO:0020128" MONDO:0005273 "MONDO:0019454" -MONDO:0005274 MONDO:0019157 MONDO:0005285 "MONDO:0008171" MONDO:0005305 "HP:0000421" MONDO:0005317 "MONDO:0004790" MONDO:0005329 "MONDO:0016982" MONDO:0005330 "MONDO:0016982" MONDO:0005331 "MONDO:0019796" -MONDO:0005332 MONDO:0006238 MONDO:0005337 "MONDO:0005244" MONDO:0005343 "MONDO:0006011" MONDO:0005353 "MONDO:0005689" @@ -1158,7 +1130,6 @@ MONDO:0005637 "MONDO:0019355" MONDO:0005646 "MONDO:0015200" MONDO:0005653 "MONDO:0016466" MONDO:0005666 "MONDO:0015274" -MONDO:0005681 MONDO:0015265 MONDO:0005685 "MONDO:0019082" MONDO:0005686 "MONDO:0021641" MONDO:0005702 "MONDO:0015908" @@ -1180,7 +1151,6 @@ MONDO:0005816 "MONDO:0019209" MONDO:0005818 "MONDO:0019480" MONDO:0005839 "MONDO:0020500" MONDO:0005840 "MONDO:0020334" -MONDO:0005860 MONDO:0019136 MONDO:0005863 MONDO:0000989 MONDO:0005869 "MONDO:0019147" MONDO:0005877 "MONDO:0017776" @@ -1200,7 +1170,6 @@ MONDO:0005958 "MONDO:0006055" MONDO:0006016 "MONDO:0019376" MONDO:0006017 "MONDO:0019380" MONDO:0006020 "MONDO:0019610" -MONDO:0006023 MONDO:0016505 MONDO:0006024 MONDO:0003050 MONDO:0006048 "MONDO:0019954" MONDO:0006057 "MONDO:0000951" @@ -1300,6 +1269,7 @@ MONDO:0006562 "MONDO:0010302" MONDO:0006568 "MONDO:0018830" MONDO:0006575 "MONDO:0016566" MONDO:0006587 "MONDO:0018063" +MONDO:0006588 "MONDO:0010962" MONDO:0006623 "MONDO:0017227" MONDO:0006627 "MONDO:0019124" MONDO:0006628 "MONDO:0017844" @@ -1311,7 +1281,6 @@ MONDO:0006691 "MONDO:0020572" MONDO:0006695 "MONDO:0007303" MONDO:0006697 "MONDO:0021697" MONDO:0006703 "MONDO:0018301" -MONDO:0006707 MONDO:0024388 MONDO:0006719 "MONDO:0009761" MONDO:0006724 "MONDO:0019373" MONDO:0006725 "MONDO:0000960" @@ -1331,7 +1300,6 @@ MONDO:0006860 "MONDO:0003036" MONDO:0006867 "MONDO:0019783" MONDO:0006870 "MONDO:0017124" MONDO:0006872 "SCTID:395654004" -MONDO:0006885 MONDO:0017255 MONDO:0006902 "MONDO:0015742" MONDO:0006910 "MONDO:0020528" MONDO:0006911 "MONDO:0020552" @@ -1355,7 +1323,9 @@ MONDO:0007069 "MONDO:0018690" MONDO:0007076 "MONDO:0018138" MONDO:0007081 "MONDO:0015243" MONDO:0007117 "MONDO:0033946" +MONDO:0007139 MONDO:0007140 "MONDO:8000010" +MONDO:0007141 MONDO:0007146 "MONDO:0008807" MONDO:0007149 MONDO:0007189 @@ -1364,8 +1334,10 @@ MONDO:0007255 "MONDO:0005575" MONDO:0007262 "MONDO:0006689" MONDO:0007291 "MONDO:0031037" MONDO:0007292 "MONDO:0004914" +MONDO:0007317 MONDO:0007324 "MONDO:0001595" MONDO:0007326 "MONDO:0700089" +MONDO:0007331 "HP:0400001" MONDO:0007347 MONDO:0007348 MONDO:0007386 @@ -1378,20 +1350,25 @@ MONDO:0007484 "MONDO:0000736" MONDO:0007494 "MONDO:0100352" MONDO:0007506 "MONDO:0005740" MONDO:0007521 +MONDO:0007532 MONDO:0007563 MONDO:0007567 MONDO:0007575 "MONDO:0017851" MONDO:0007582 "MONDO:0019570" +MONDO:0007591 "HP:0002219" MONDO:0007596 "MONDO:0010602" MONDO:0007602 "MONDO:0010480" MONDO:0007611 "MONDO:0000200" MONDO:0007613 "MONDO:0006761" +MONDO:0007622 MONDO:0007632 "MONDO:0002399" MONDO:0007641 +MONDO:0007645 MONDO:0007658 "MONDO:0044793" MONDO:0007659 "MONDO:0007954" MONDO:0007678 MONDO:0007684 "MONDO:0010600" +MONDO:0007692 MONDO:0007703 "MONDO:0009327" MONDO:0007714 "MONDO:0000700" MONDO:0007714 "MONDO:0020756" @@ -1406,6 +1383,8 @@ MONDO:0007798 "MONDO:0600011" MONDO:0007801 "MONDO:0007436" MONDO:0007815 "MONDO:0007818" MONDO:0007821 +MONDO:0007822 "HP:0000675" +MONDO:0007823 MONDO:0007889 "MONDO:0021582" MONDO:0007897 "MONDO:0004948" MONDO:0007926 "MONDO:0100280" @@ -1416,11 +1395,13 @@ MONDO:0007960 "MONDO:0100354" MONDO:0007978 "MONDO:0006292" MONDO:0008032 "MONDO:0012215" MONDO:0008033 "MONDO:0021569" +MONDO:0008068 MONDO:0008074 MONDO:0008077 "MONDO:0018975" MONDO:0008091 "MONDO:0007883" MONDO:0008091 "MONDO:0009646" MONDO:0008091 "MONDO:0018037" +MONDO:0008110 MONDO:0008112 "MONDO:0015397" MONDO:0008117 "MONDO:0020793" MONDO:0008122 "MONDO:0011781" @@ -1431,21 +1412,29 @@ MONDO:0008191 "http://identifiers.org/hgnc/5167" MONDO:0008204 "MONDO:0007841" MONDO:0008220 MONDO:0008279 "MONDO:0021055" +MONDO:0008326 MONDO:0008331 "HP:0000538" +MONDO:0008351 MONDO:0008360 "MONDO:0017985" +MONDO:0008405 MONDO:0008413 "MONDO:0005090" MONDO:0008415 "MONDO:0010505" +MONDO:0008432 MONDO:0008480 "MONDO:0031169" MONDO:0008531 MONDO:0008539 "MONDO:0016675" +MONDO:0008548 MONDO:0008550 "MONDO:0008551" MONDO:0008574 +MONDO:0008616 +MONDO:0008625 MONDO:0008631 "MONDO:0018470" MONDO:0008646 "MONDO:0100316" MONDO:0008656 "MONDO:8000018" MONDO:0008657 "MONDO:0007447" MONDO:0008664 "MONDO:0006928" MONDO:0008674 "MONDO:0023880" +MONDO:0008677 "HP:0000349" MONDO:0008697 MONDO:0008761 MONDO:0008784 "MONDO:0020108" @@ -1465,8 +1454,10 @@ MONDO:0009065 "MONDO:0100151" MONDO:0009078 "MONDO:0002441" MONDO:0009116 "MONDO:0100345" MONDO:0009117 +MONDO:0009125 MONDO:0009160 "MONDO:0016002" MONDO:0009245 "MONDO:0100339" +MONDO:0009250 MONDO:0009278 "MONDO:0012382" MONDO:0009289 "MONDO:0009288" MONDO:0009304 "MONDO:0012853" @@ -1486,6 +1477,7 @@ MONDO:0009494 "MONDO:0008774" MONDO:0009510 "MONDO:0100211" MONDO:0009531 MONDO:0009535 "MONDO:0007919" +MONDO:0009553 MONDO:0009639 "MONDO:0016825" MONDO:0009640 "MONDO:0100223" MONDO:0009641 "MONDO:0100294" @@ -1496,7 +1488,9 @@ MONDO:0009739 "MONDO:0024457" MONDO:0009753 MONDO:0009799 "MONDO:0016620" MONDO:0009819 "MONDO:0019409" +MONDO:0009829 "HP:0007132" MONDO:0009834 "MONDO:0009479" +MONDO:0009930 "HP:0006548" MONDO:0009981 "MONDO:0008377" MONDO:0009989 "MONDO:0100288" MONDO:0009991 "MONDO:0019107" @@ -1543,6 +1537,7 @@ MONDO:0010616 "MONDO:0009421" MONDO:0010624 "MONDO:0100213" MONDO:0010666 "MONDO:0010758" MONDO:0010701 "MONDO:0010578" +MONDO:0010705 MONDO:0010715 "MONDO:0010720" MONDO:0010724 "MONDO:0000910" MONDO:0010766 "MONDO:0100250" @@ -1554,6 +1549,7 @@ MONDO:0010935 "MONDO:0015353" MONDO:0010942 "OMIM:600841" MONDO:0010990 "HP:0031394" MONDO:0010990 "NCIT:C74637" +MONDO:0010994 MONDO:0011127 "MONDO:0100344" MONDO:0011140 "MONDO:0011904" MONDO:0011204 @@ -1573,11 +1569,13 @@ MONDO:0011495 "MONDO:0018310" MONDO:0011515 "MONDO:0017884" MONDO:0011526 "MONDO:0007954" MONDO:0011543 "MONDO:0016419" +MONDO:0011554 MONDO:0011623 "MONDO:0018996" MONDO:0011643 "MONDO:0100164" MONDO:0011645 "MONDO:0018815" MONDO:0011665 "MONDO:0016532" MONDO:0011666 "MONDO:0018911" +MONDO:0011692 "MONDO:0024538" MONDO:0011750 MONDO:0011769 "MONDO:0019625" MONDO:0011791 "MONDO:0019588" @@ -1617,18 +1615,23 @@ MONDO:0013347 "MONDO:0001056" MONDO:0013399 "MONDO:0000911" MONDO:0013451 "MONDO:0011835" MONDO:0013494 "MONDO:0100226" +MONDO:0013538 +MONDO:0013586 MONDO:0013596 "MONDO:0008060" MONDO:0013617 "MONDO:0013357" MONDO:0013647 "MONDO:0031481" MONDO:0013667 "MONDO:0018881" MONDO:0013676 "MONDO:0100255" MONDO:0013701 "MONDO:0016396" +MONDO:0013799 MONDO:0013804 "MONDO:0007617" MONDO:0013816 "MONDO:0019014" MONDO:0013850 "MONDO:0044660" MONDO:0013861 "MONDO:0010936" MONDO:0013958 "MONDO:0009194" -MONDO:0014188 MONDO:0024568 +MONDO:0014053 +MONDO:0014253 "MONDO:8000023" +MONDO:0014253 "MONDO:8000024" MONDO:0014279 "MONDO:0000908" MONDO:0014315 "MONDO:0017400" MONDO:0014330 @@ -1642,18 +1645,18 @@ MONDO:0014709 "MONDO:0100263" MONDO:0014721 "MONDO:0000913" MONDO:0014763 MONDO:0014812 "MONDO:0018820" +MONDO:0014826 MONDO:0014849 "MONDO:0012091" MONDO:0014852 "MONDO:0014089" MONDO:0014879 "MONDO:0024266" MONDO:0014897 "MONDO:0024193" -MONDO:0014913 MONDO:0044300 MONDO:0014964 "MONDO:0044646" MONDO:0014988 "MONDO:0044723" MONDO:0015052 "MONDO:0017015" MONDO:0015058 "MONDO:0006015" -MONDO:0015076 "MONDO:0021360" "ICD10:C75.0" -MONDO:0015076 "MONDO:0021360" "ICD10:D35.1" -MONDO:0015076 "MONDO:0021360" "ICD10:D44.2" +MONDO:0015076 "MONDO:0021360" "ICD10CM:C75.0" +MONDO:0015076 "MONDO:0021360" "ICD10CM:D35.1" +MONDO:0015076 "MONDO:0021360" "ICD10CM:D44.2" MONDO:0015076 "MONDO:0021360" "UMLS:C0030521" MONDO:0015078 "MONDO:0024503" MONDO:0015080 "MONDO:0005197" @@ -1677,34 +1680,35 @@ MONDO:0015120 "MONDO:0000001" MONDO:0015121 "MONDO:0021220" "UMLS:C0015414" MONDO:0015122 "MONDO:0005015" "UMLS:C0011849" MONDO:0015122 "MONDO:0005015" "UMLS:C0011860" -MONDO:0015123 "MONDO:0002525" "ICD10:E78.0" -MONDO:0015123 "MONDO:0002525" "ICD10:E78.1" -MONDO:0015123 "MONDO:0002525" "ICD10:E78.2" -MONDO:0015123 "MONDO:0002525" "ICD10:E78.3" -MONDO:0015123 "MONDO:0002525" "ICD10:E78.4" -MONDO:0015123 "MONDO:0002525" "ICD10:E78.5" -MONDO:0015123 "MONDO:0002525" "ICD10:E78.6" -MONDO:0015123 "MONDO:0002525" "ICD10:E78.8" -MONDO:0015123 "MONDO:0002525" "ICD10:E78.9" +MONDO:0015123 "MONDO:0002525" "ICD10CM:E78.0" +MONDO:0015123 "MONDO:0002525" "ICD10CM:E78.1" +MONDO:0015123 "MONDO:0002525" "ICD10CM:E78.2" +MONDO:0015123 "MONDO:0002525" "ICD10CM:E78.3" +MONDO:0015123 "MONDO:0002525" "ICD10CM:E78.4" +MONDO:0015123 "MONDO:0002525" "ICD10CM:E78.5" +MONDO:0015123 "MONDO:0002525" "ICD10CM:E78.6" +MONDO:0015123 "MONDO:0002525" "ICD10CM:E78.8" +MONDO:0015123 "MONDO:0002525" "ICD10CM:E78.9" MONDO:0015123 "MONDO:0002525" "UMLS:C0242339" MONDO:0015124 "MONDO:0005495" "UMLS:C0001621" MONDO:0015125 "MONDO:0003240" "UMLS:C0040128" MONDO:0015136 "MONDO:0003778" MONDO:0015138 "MONDO:0003778" "MedDRA:10064859" -MONDO:0015139 "MONDO:0005027" "ICD10:G40.0" -MONDO:0015139 "MONDO:0005027" "ICD10:G40.1" -MONDO:0015139 "MONDO:0005027" "ICD10:G40.2" -MONDO:0015139 "MONDO:0005027" "ICD10:G40.3" -MONDO:0015139 "MONDO:0005027" "ICD10:G40.4" -MONDO:0015139 "MONDO:0005027" "ICD10:G40.5" -MONDO:0015139 "MONDO:0005027" "ICD10:G40.6" -MONDO:0015139 "MONDO:0005027" "ICD10:G40.7" -MONDO:0015139 "MONDO:0005027" "ICD10:G40.8" -MONDO:0015139 "MONDO:0005027" "ICD10:G40.9" +MONDO:0015139 "MONDO:0005027" "ICD10CM:G40.0" +MONDO:0015139 "MONDO:0005027" "ICD10CM:G40.1" +MONDO:0015139 "MONDO:0005027" "ICD10CM:G40.2" +MONDO:0015139 "MONDO:0005027" "ICD10CM:G40.3" +MONDO:0015139 "MONDO:0005027" "ICD10CM:G40.4" +MONDO:0015139 "MONDO:0005027" "ICD10CM:G40.5" +MONDO:0015139 "MONDO:0005027" "ICD10CM:G40.6" +MONDO:0015139 "MONDO:0005027" "ICD10CM:G40.7" +MONDO:0015139 "MONDO:0005027" "ICD10CM:G40.8" +MONDO:0015139 "MONDO:0005027" "ICD10CM:G40.9" MONDO:0015139 "MONDO:0005027" "UMLS:C0014544" MONDO:0015142 "MONDO:0000437" MONDO:0015143 "MONDO:0005395" "UMLS:C0026650" -MONDO:0015147 "ICD10:Q04.3" +MONDO:0015147 "ICD10CM:Q04.3" +MONDO:0015153 MONDO:0015154 "MONDO:0006956" MONDO:0015155 "MONDO:0001195" MONDO:0015156 "MONDO:0001246" @@ -1724,7 +1728,7 @@ MONDO:0015218 "MONDO:0005328" MONDO:0015220 "MONDO:0002254" MONDO:0015223 "MONDO:0002280" "UMLS:C0002871" MONDO:0015224 "MONDO:0029000" -MONDO:0015226 "ICD10:Q87.2" +MONDO:0015226 "ICD10CM:Q87.2" MONDO:0015242 "MONDO:0005657" MONDO:0015245 "MONDO:0005020" "UMLS:C0021831" MONDO:0015251 "MONDO:0005662" @@ -1733,15 +1737,15 @@ MONDO:0015266 "MONDO:0005683" MONDO:0015276 "MONDO:0008315" MONDO:0015287 "MONDO:0005198" MONDO:0015297 "MONDO:0009622" -MONDO:0015305 "MONDO:0005133" "ICD10:N80.0" -MONDO:0015305 "MONDO:0005133" "ICD10:N80.1" -MONDO:0015305 "MONDO:0005133" "ICD10:N80.2" -MONDO:0015305 "MONDO:0005133" "ICD10:N80.3" -MONDO:0015305 "MONDO:0005133" "ICD10:N80.4" -MONDO:0015305 "MONDO:0005133" "ICD10:N80.5" -MONDO:0015305 "MONDO:0005133" "ICD10:N80.6" -MONDO:0015305 "MONDO:0005133" "ICD10:N80.8" -MONDO:0015305 "MONDO:0005133" "ICD10:N80.9" +MONDO:0015305 "MONDO:0005133" "ICD10CM:N80.0" +MONDO:0015305 "MONDO:0005133" "ICD10CM:N80.1" +MONDO:0015305 "MONDO:0005133" "ICD10CM:N80.2" +MONDO:0015305 "MONDO:0005133" "ICD10CM:N80.3" +MONDO:0015305 "MONDO:0005133" "ICD10CM:N80.4" +MONDO:0015305 "MONDO:0005133" "ICD10CM:N80.5" +MONDO:0015305 "MONDO:0005133" "ICD10CM:N80.6" +MONDO:0015305 "MONDO:0005133" "ICD10CM:N80.8" +MONDO:0015305 "MONDO:0005133" "ICD10CM:N80.9" MONDO:0015305 "MONDO:0005133" "UMLS:C0014175" MONDO:0015309 "MONDO:0000107" MONDO:0015318 "MONDO:0018187" @@ -1809,14 +1813,14 @@ MONDO:0015670 "MONDO:0004994" MONDO:0015671 "MONDO:0005504" MONDO:0015673 "MONDO:0021209" "UMLS:C0018809" MONDO:0015676 "MONDO:0000193" -MONDO:0015680 "MONDO:0000594" "ICD10:F84.0" -MONDO:0015680 "MONDO:0000594" "ICD10:F84.1" -MONDO:0015680 "MONDO:0000594" "ICD10:F84.2" -MONDO:0015680 "MONDO:0000594" "ICD10:F84.3" -MONDO:0015680 "MONDO:0000594" "ICD10:F84.4" -MONDO:0015680 "MONDO:0000594" "ICD10:F84.5" -MONDO:0015680 "MONDO:0000594" "ICD10:F84.8" -MONDO:0015680 "MONDO:0000594" "ICD10:F84.9" +MONDO:0015680 "MONDO:0000594" "ICD10CM:F84.0" +MONDO:0015680 "MONDO:0000594" "ICD10CM:F84.1" +MONDO:0015680 "MONDO:0000594" "ICD10CM:F84.2" +MONDO:0015680 "MONDO:0000594" "ICD10CM:F84.3" +MONDO:0015680 "MONDO:0000594" "ICD10CM:F84.4" +MONDO:0015680 "MONDO:0000594" "ICD10CM:F84.5" +MONDO:0015680 "MONDO:0000594" "ICD10CM:F84.8" +MONDO:0015680 "MONDO:0000594" "ICD10CM:F84.9" MONDO:0015680 "MONDO:0000594" "MESH:D002659" MONDO:0015680 "MONDO:0000594" "MedDRA:10061345" MONDO:0015680 "MONDO:0000594" "UMLS:C0524528" @@ -1861,48 +1865,48 @@ MONDO:0015889 MONDO:0015890 "UMLS:C0271623" MONDO:0015891 MONDO:0015893 "MONDO:0005420" "UMLS:C0020676" -MONDO:0015894 "MONDO:0004425" "ICD10:E05.0" -MONDO:0015894 "MONDO:0004425" "ICD10:E05.1" -MONDO:0015894 "MONDO:0004425" "ICD10:E05.2" -MONDO:0015894 "MONDO:0004425" "ICD10:E05.3" -MONDO:0015894 "MONDO:0004425" "ICD10:E05.4" -MONDO:0015894 "MONDO:0004425" "ICD10:E05.5" -MONDO:0015894 "MONDO:0004425" "ICD10:E05.8" -MONDO:0015894 "MONDO:0004425" "ICD10:E05.9" +MONDO:0015894 "MONDO:0004425" "ICD10CM:E05.0" +MONDO:0015894 "MONDO:0004425" "ICD10CM:E05.1" +MONDO:0015894 "MONDO:0004425" "ICD10CM:E05.2" +MONDO:0015894 "MONDO:0004425" "ICD10CM:E05.3" +MONDO:0015894 "MONDO:0004425" "ICD10CM:E05.4" +MONDO:0015894 "MONDO:0004425" "ICD10CM:E05.5" +MONDO:0015894 "MONDO:0004425" "ICD10CM:E05.8" +MONDO:0015894 "MONDO:0004425" "ICD10CM:E05.9" MONDO:0015894 "MONDO:0004425" "UMLS:C0020550" MONDO:0015895 "MONDO:0002254" -MONDO:0015896 "MONDO:0001220" "ICD10:E20.0" -MONDO:0015896 "MONDO:0001220" "ICD10:E20.1" -MONDO:0015896 "MONDO:0001220" "ICD10:E20.8" -MONDO:0015896 "MONDO:0001220" "ICD10:E20.9" +MONDO:0015896 "MONDO:0001220" "ICD10CM:E20.0" +MONDO:0015896 "MONDO:0001220" "ICD10CM:E20.1" +MONDO:0015896 "MONDO:0001220" "ICD10CM:E20.8" +MONDO:0015896 "MONDO:0001220" "ICD10CM:E20.9" MONDO:0015896 "MONDO:0001220" "UMLS:C0020626" -MONDO:0015897 "MONDO:0001741" "ICD10:E21.0" -MONDO:0015897 "MONDO:0001741" "ICD10:E21.1" -MONDO:0015897 "MONDO:0001741" "ICD10:E21.2" -MONDO:0015897 "MONDO:0001741" "ICD10:E21.3" +MONDO:0015897 "MONDO:0001741" "ICD10CM:E21.0" +MONDO:0015897 "MONDO:0001741" "ICD10CM:E21.1" +MONDO:0015897 "MONDO:0001741" "ICD10CM:E21.2" +MONDO:0015897 "MONDO:0001741" "ICD10CM:E21.3" MONDO:0015897 "MONDO:0001741" "UMLS:C0020502" -MONDO:0015899 "MONDO:0001422" "ICD10:E26.0" +MONDO:0015899 "MONDO:0001422" "ICD10CM:E26.0" MONDO:0015899 "MONDO:0001422" "UMLS:C1384514" -MONDO:0015901 "MONDO:0021187" "ICD10:E78.0" -MONDO:0015901 "MONDO:0021187" "ICD10:E78.1" -MONDO:0015901 "MONDO:0021187" "ICD10:E78.2" -MONDO:0015901 "MONDO:0021187" "ICD10:E78.3" -MONDO:0015901 "MONDO:0021187" "ICD10:E78.4" -MONDO:0015901 "MONDO:0021187" "ICD10:E78.5" +MONDO:0015901 "MONDO:0021187" "ICD10CM:E78.0" +MONDO:0015901 "MONDO:0021187" "ICD10CM:E78.1" +MONDO:0015901 "MONDO:0021187" "ICD10CM:E78.2" +MONDO:0015901 "MONDO:0021187" "ICD10CM:E78.3" +MONDO:0015901 "MONDO:0021187" "ICD10CM:E78.4" +MONDO:0015901 "MONDO:0021187" "ICD10CM:E78.5" MONDO:0015901 "MONDO:0021187" "ICD9:272.4" MONDO:0015901 "MONDO:0021187" "UMLS:C0020473" -MONDO:0015904 "MONDO:0000001" "ICD10:E78.6" +MONDO:0015904 "MONDO:0000001" "ICD10CM:E78.6" MONDO:0015906 "MONDO:0000001" MONDO:0015910 "MONDO:0003664" -MONDO:0015911 "MONDO:0003664" "ICD10:D59.0" -MONDO:0015911 "MONDO:0003664" "ICD10:D59.1" -MONDO:0015911 "MONDO:0003664" "ICD10:D59.2" -MONDO:0015911 "MONDO:0003664" "ICD10:D59.3" -MONDO:0015911 "MONDO:0003664" "ICD10:D59.4" -MONDO:0015911 "MONDO:0003664" "ICD10:D59.5" -MONDO:0015911 "MONDO:0003664" "ICD10:D59.6" -MONDO:0015911 "MONDO:0003664" "ICD10:D59.8" -MONDO:0015911 "MONDO:0003664" "ICD10:D59.9" +MONDO:0015911 "MONDO:0003664" "ICD10CM:D59.0" +MONDO:0015911 "MONDO:0003664" "ICD10CM:D59.1" +MONDO:0015911 "MONDO:0003664" "ICD10CM:D59.2" +MONDO:0015911 "MONDO:0003664" "ICD10CM:D59.3" +MONDO:0015911 "MONDO:0003664" "ICD10CM:D59.4" +MONDO:0015911 "MONDO:0003664" "ICD10CM:D59.5" +MONDO:0015911 "MONDO:0003664" "ICD10CM:D59.6" +MONDO:0015911 "MONDO:0003664" "ICD10CM:D59.8" +MONDO:0015911 "MONDO:0003664" "ICD10CM:D59.9" MONDO:0015911 "MONDO:0003664" "UMLS:C0002879" MONDO:0015913 MONDO:0015916 @@ -1978,12 +1982,12 @@ MONDO:0016180 "MONDO:0005570" MONDO:0016181 "MONDO:0005070" MONDO:0016212 "MONDO:0005725" MONDO:0016228 "MONDO:0024296" "UMLS:C0282607" -MONDO:0016232 "ICD10:Q27.8" +MONDO:0016232 "ICD10CM:Q27.8" MONDO:0016232 "MedDRA:10025532" MONDO:0016232 "UMLS:C0265950" MONDO:0016232 "UMLS:C2937220" MONDO:0016233 -MONDO:0016234 "MONDO:0001256" "ICD10:Q27.3" +MONDO:0016234 "MONDO:0001256" "ICD10CM:Q27.3" MONDO:0016234 "MONDO:0001256" "MESH:D001165" MONDO:0016234 "MONDO:0001256" "MedDRA:10003193" MONDO:0016234 "MONDO:0001256" "UMLS:C0003857" @@ -1992,14 +1996,14 @@ MONDO:0016235 "MONDO:0019063" MONDO:0016245 "MONDO:0008170" MONDO:0016246 "MONDO:0002752" MONDO:0016247 MONDO:0003792 -MONDO:0016250 "MONDO:0004988" "ICD10:C50.0" -MONDO:0016250 "MONDO:0004988" "ICD10:C50.1" -MONDO:0016250 "MONDO:0004988" "ICD10:C50.2" -MONDO:0016250 "MONDO:0004988" "ICD10:C50.3" -MONDO:0016250 "MONDO:0004988" "ICD10:C50.4" -MONDO:0016250 "MONDO:0004988" "ICD10:C50.5" -MONDO:0016250 "MONDO:0004988" "ICD10:C50.6" -MONDO:0016250 "MONDO:0004988" "ICD10:C50.8" +MONDO:0016250 "MONDO:0004988" "ICD10CM:C50.0" +MONDO:0016250 "MONDO:0004988" "ICD10CM:C50.1" +MONDO:0016250 "MONDO:0004988" "ICD10CM:C50.2" +MONDO:0016250 "MONDO:0004988" "ICD10CM:C50.3" +MONDO:0016250 "MONDO:0004988" "ICD10CM:C50.4" +MONDO:0016250 "MONDO:0004988" "ICD10CM:C50.5" +MONDO:0016250 "MONDO:0004988" "ICD10CM:C50.6" +MONDO:0016250 "MONDO:0004988" "ICD10CM:C50.8" MONDO:0016250 "MONDO:0004988" "UMLS:C0858252" MONDO:0016252 "MONDO:0002715" "UMLS:C0153567" MONDO:0016253 "MONDO:0004992" "UMLS:C0153574" @@ -2019,7 +2023,7 @@ MONDO:0016314 "MONDO:0005192" "MedDRA:10033604" MONDO:0016314 "MONDO:0005192" "MedDRA:10033609" MONDO:0016314 "MONDO:0005192" "UMLS:C0235974" MONDO:0016314 "MONDO:0005192" "UMLS:C0346647" -MONDO:0016320 "ICD10:D68.5" +MONDO:0016320 "ICD10CM:D68.5" MONDO:0016324 "MONDO:0005045" MONDO:0016325 "MONDO:0002412" MONDO:0016326 "MONDO:0002561" @@ -2034,7 +2038,7 @@ MONDO:0016339 "MONDO:0005201" MONDO:0016341 "MONDO:0002561" MONDO:0016343 "MONDO:0004994" MONDO:0016347 "MONDO:0007263" -MONDO:0016363 "MONDO:0006507" "ICD10:E83.1" +MONDO:0016363 "MONDO:0006507" "ICD10CM:E83.1" MONDO:0016363 "MONDO:0006507" "ICD9:275.01" MONDO:0016363 "MONDO:0006507" "NCIT:C84764" MONDO:0016363 "MONDO:0006507" "Orphanet:139498" @@ -2099,21 +2103,21 @@ MONDO:0016737 "MONDO:0005033" MONDO:0016741 "MONDO:0002718" MONDO:0016753 "MONDO:0002546" MONDO:0016754 "MONDO:0001569" -MONDO:0016766 "MONDO:0006572" "ICD10:L43.0" -MONDO:0016766 "MONDO:0006572" "ICD10:L43.1" -MONDO:0016766 "MONDO:0006572" "ICD10:L43.2" -MONDO:0016766 "MONDO:0006572" "ICD10:L43.3" -MONDO:0016766 "MONDO:0006572" "ICD10:L43.8" -MONDO:0016766 "MONDO:0006572" "ICD10:L43.9" -MONDO:0016766 "MONDO:0006572" "ICD10:L66.1" +MONDO:0016766 "MONDO:0006572" "ICD10CM:L43.0" +MONDO:0016766 "MONDO:0006572" "ICD10CM:L43.1" +MONDO:0016766 "MONDO:0006572" "ICD10CM:L43.2" +MONDO:0016766 "MONDO:0006572" "ICD10CM:L43.3" +MONDO:0016766 "MONDO:0006572" "ICD10CM:L43.8" +MONDO:0016766 "MONDO:0006572" "ICD10CM:L43.9" +MONDO:0016766 "MONDO:0006572" "ICD10CM:L66.1" MONDO:0016766 "MONDO:0006572" "UMLS:C0023646" MONDO:0016767 "MONDO:0006572" -MONDO:0016768 "ICD10:L43.0" -MONDO:0016768 "ICD10:L43.1" -MONDO:0016768 "ICD10:L43.2" -MONDO:0016768 "ICD10:L43.3" -MONDO:0016768 "ICD10:L43.8" -MONDO:0016768 "ICD10:L43.9" +MONDO:0016768 "ICD10CM:L43.0" +MONDO:0016768 "ICD10CM:L43.1" +MONDO:0016768 "ICD10CM:L43.2" +MONDO:0016768 "ICD10CM:L43.3" +MONDO:0016768 "ICD10CM:L43.8" +MONDO:0016768 "ICD10CM:L43.9" MONDO:0016788 "HP:0003281" MONDO:0016791 "MONDO:0016387" MONDO:0016792 "MONDO:0016387" @@ -2131,11 +2135,20 @@ MONDO:0016900 "MONDO:0022756" MONDO:0016916 "MONDO:0011147" MONDO:0016920 "MONDO:0022760" MONDO:0016926 "MONDO:0000127" +MONDO:0016946 "MONDO:0016526" +MONDO:0016962 "MONDO:0022173" +MONDO:0016963 "MONDO:0022177" MONDO:0016973 "MONDO:0002588" MONDO:0016992 "MONDO:0024548" MONDO:0016997 "MONDO:0019276" +MONDO:0016998 +MONDO:0016999 "MONDO:0700064" MONDO:0017000 MONDO:0017001 +MONDO:0017002 "MONDO:0700064" +MONDO:0017005 "MONDO:0700064" +MONDO:0017006 +MONDO:0017011 MONDO:0017016 "MONDO:0015925" MONDO:0017017 "MONDO:0015925" MONDO:0017020 "MONDO:0015925" @@ -2162,7 +2175,7 @@ MONDO:0017125 "MONDO:0010261" MONDO:0017130 MONDO:0017133 "MONDO:0000001" MONDO:0017141 "MONDO:0002243" -MONDO:0017142 "ICD10:D69.8" +MONDO:0017142 "ICD10CM:D69.8" MONDO:0017150 "MONDO:0015924" MONDO:0017151 "MONDO:0015924" MONDO:0017152 "MONDO:0015924" @@ -2199,6 +2212,7 @@ MONDO:0017371 "MONDO:0005586" "UMLS:C0018671" MONDO:0017374 "MONDO:0011348" MONDO:0017378 "MONDO:0000087" MONDO:0017390 "MONDO:0002012" +MONDO:0017412 "MONDO:0013363" MONDO:0017414 "MONDO:0005073" "UMLS:C0027960" MONDO:0017432 "MONDO:0002254" MONDO:0017433 @@ -2236,9 +2250,9 @@ MONDO:0017662 "MONDO:0005395" MONDO:0017663 "MONDO:0005395" MONDO:0017664 "MONDO:0017663" MONDO:0017665 -MONDO:0017669 "ICD10:Q82.8" -MONDO:0017671 "ICD10:Q82.8" -MONDO:0017674 "ICD10:Q82.8" +MONDO:0017669 "ICD10CM:Q82.8" +MONDO:0017671 "ICD10CM:Q82.8" +MONDO:0017674 "ICD10CM:Q82.8" MONDO:0017678 "Orphanet:308023" MONDO:0017678 "UMLS:CN203565" MONDO:0017679 "Orphanet:308031" @@ -2294,7 +2308,7 @@ MONDO:0018035 "MONDO:0002254" MONDO:0018036 "MONDO:0003778" MONDO:0018038 MONDO:0018040 "MONDO:0003947" -MONDO:0018041 "ICD10:D80.8" +MONDO:0018041 "ICD10CM:D80.8" MONDO:0018042 "MONDO:0021094" MONDO:0018049 "MONDO:0005055" MONDO:0018057 "MONDO:0005988" @@ -2312,6 +2326,7 @@ MONDO:0018140 "MONDO:0006687" MONDO:0018157 "MONDO:0004069" MONDO:0018176 "MONDO:0000087" MONDO:0018179 "MONDO:0001881" +MONDO:0018186 "MONDO:0700091" MONDO:0018194 "MONDO:0003125" MONDO:0018195 "MONDO:0002873" MONDO:0018196 "MONDO:0010108" @@ -2328,16 +2343,16 @@ MONDO:0018265 MONDO:0018272 "MONDO:0003795" MONDO:0018275 "MONDO:0018274" MONDO:0018284 "MONDO:0015286" -MONDO:0018285 "ICD10:E77.8" -MONDO:0018286 "ICD10:E77.8" -MONDO:0018287 "ICD10:E77.8" +MONDO:0018285 "ICD10CM:E77.8" +MONDO:0018286 "ICD10CM:E77.8" +MONDO:0018287 "ICD10CM:E77.8" MONDO:0018288 "MONDO:0015286" MONDO:0018289 "MONDO:0015286" -MONDO:0018290 "ICD10:E77.8" +MONDO:0018290 "ICD10CM:E77.8" MONDO:0018291 "MONDO:0015286" MONDO:0018293 "MONDO:0015286" -MONDO:0018294 "ICD10:E77.8" -MONDO:0018295 "ICD10:E77.8" +MONDO:0018294 "ICD10CM:E77.8" +MONDO:0018295 "ICD10CM:E77.8" MONDO:0018296 "MONDO:0015286" MONDO:0018297 "MONDO:0014176" MONDO:0018299 @@ -2354,31 +2369,31 @@ MONDO:0018366 "MONDO:0005601" MONDO:0018367 "MONDO:0006045" MONDO:0018372 "MONDO:0005380" MONDO:0018377 -MONDO:0018386 "ICD10:N46" -MONDO:0018387 "ICD10:N46" -MONDO:0018388 "ICD10:N46" +MONDO:0018386 "ICD10CM:N46" +MONDO:0018387 "ICD10CM:N46" +MONDO:0018388 "ICD10CM:N46" MONDO:0018389 "MONDO:0005372" MONDO:0018390 "MONDO:0005372" MONDO:0018391 "MONDO:0005372" MONDO:0018392 "MONDO:0005372" MONDO:0018395 "MONDO:0005372" MONDO:0018396 -MONDO:0018397 "ICD10:N97.0" +MONDO:0018397 "ICD10CM:N97.0" MONDO:0018398 "MONDO:0021124" MONDO:0018399 "MONDO:0018398" MONDO:0018400 -MONDO:0018401 "ICD10:N97.0" +MONDO:0018401 "ICD10CM:N97.0" MONDO:0018402 "MONDO:0021124" MONDO:0018403 "MONDO:0021124" MONDO:0018404 "MONDO:0005372" -MONDO:0018405 "ICD10:N46" -MONDO:0018406 "ICD10:N46" +MONDO:0018405 "ICD10CM:N46" +MONDO:0018406 "ICD10CM:N46" MONDO:0018407 "MONDO:0005372" MONDO:0018409 MONDO:0018410 "MONDO:0021124" -MONDO:0018411 "ICD10:N97.0" +MONDO:0018411 "ICD10CM:N97.0" MONDO:0018412 -MONDO:0018413 "ICD10:N97.0" +MONDO:0018413 "ICD10CM:N97.0" MONDO:0018414 "MONDO:0021124" MONDO:0018415 "MONDO:0005802" MONDO:0018427 "MONDO:0006210" @@ -2463,9 +2478,9 @@ MONDO:0018863 "MONDO:0005825" MONDO:0018867 "MONDO:0009563" MONDO:0018880 MONDO:0018886 "MONDO:0005828" -MONDO:0018887 "MONDO:0005282" "ICD10:L93.0" -MONDO:0018887 "MONDO:0005282" "ICD10:L93.1" -MONDO:0018887 "MONDO:0005282" "ICD10:L93.2" +MONDO:0018887 "MONDO:0005282" "ICD10CM:L93.0" +MONDO:0018887 "MONDO:0005282" "ICD10CM:L93.1" +MONDO:0018887 "MONDO:0005282" "ICD10CM:L93.2" MONDO:0018887 "MONDO:0005282" "MESH:D008178" MONDO:0018887 "MONDO:0005282" "MedDRA:10056509" MONDO:0018887 "MONDO:0005282" "UMLS:C0024137" @@ -2509,7 +2524,7 @@ MONDO:0019081 "MONDO:0008757" MONDO:0019089 "MONDO:0006502" MONDO:0019090 "MONDO:0006851" MONDO:0019096 "MONDO:0005149" -MONDO:0019097 "ICD10:D69.1" +MONDO:0019097 "ICD10CM:D69.1" MONDO:0019099 "MONDO:0006424" "UMLS:C0037579" MONDO:0019106 "MONDO:0006183" MONDO:0019110 "MONDO:0020676" @@ -2579,6 +2594,7 @@ MONDO:0019616 "MONDO:0002999" MONDO:0019657 "MONDO:0019006" MONDO:0019658 "MONDO:0019006" MONDO:0019663 "MONDO:0013127" +MONDO:0019683 "MONDO:0021651" MONDO:0019684 "MONDO:0005381" MONDO:0019686 "MONDO:0022800" MONDO:0019687 "MONDO:0005381" @@ -2660,6 +2676,16 @@ MONDO:0020038 "MONDO:0002145" MONDO:0020041 "MONDO:0017969" MONDO:0020042 "MONDO:0002254" MONDO:0020045 "MONDO:0015244" +MONDO:0020050 "MONDO:0700065" +MONDO:0020053 "MONDO:0020639" +MONDO:0020054 "MONDO:0000761" +MONDO:0020055 "MONDO:0700086" +MONDO:0020056 +MONDO:0020057 +MONDO:0020059 "MONDO:0700064" +MONDO:0020060 +MONDO:0020061 +MONDO:0020062 MONDO:0020063 "MONDO:0019755" MONDO:0020078 "MONDO:0018874" MONDO:0020079 "MONDO:0004959" @@ -2669,19 +2695,19 @@ MONDO:0020086 "MONDO:0002429" MONDO:0020090 "MONDO:0005372" MONDO:0020091 "MONDO:0005372" MONDO:0020092 "MONDO:0005372" -MONDO:0020094 "ICD10:Q82.8" -MONDO:0020095 "ICD10:Q82.8" -MONDO:0020097 "ICD10:Q82.8" +MONDO:0020094 "ICD10CM:Q82.8" +MONDO:0020095 "ICD10CM:Q82.8" +MONDO:0020097 "ICD10CM:Q82.8" MONDO:0020098 "MONDO:0016624" MONDO:0020100 "MONDO:0003664" "UMLS:C0002878" MONDO:0020101 "MONDO:0003664" MONDO:0020103 "MONDO:0003664" -MONDO:0020104 "ICD10:D55.0" -MONDO:0020104 "ICD10:D55.1" -MONDO:0020104 "ICD10:D55.2" -MONDO:0020104 "ICD10:D55.3" -MONDO:0020104 "ICD10:D55.8" -MONDO:0020104 "ICD10:D55.9" +MONDO:0020104 "ICD10CM:D55.0" +MONDO:0020104 "ICD10CM:D55.1" +MONDO:0020104 "ICD10CM:D55.2" +MONDO:0020104 "ICD10CM:D55.3" +MONDO:0020104 "ICD10CM:D55.8" +MONDO:0020104 "ICD10CM:D55.9" MONDO:0020105 "MONDO:0003664" MONDO:0020106 "MONDO:0003664" MONDO:0020107 "MONDO:0003664" @@ -2833,9 +2859,9 @@ MONDO:0020671 "HP:0002140" MONDO:0020691 MONDO:0005990 MONDO:0020700 "MONDO:0000208" MONDO:0020719 "MONDO:0018309" +MONDO:0020734 MONDO:0020742 "MONDO:0008926" MONDO:0020755 "HP:0012722" -MONDO:0020758 MONDO:0037872 MONDO:0020784 MONDO:0020786 MONDO:0020802 "MONDO:0020804" @@ -2849,6 +2875,7 @@ MONDO:0021007 MONDO:0021037 "MONDO:0024237" MONDO:0021044 "MONDO:0006058" MONDO:0021051 "MONDO:0015540" +MONDO:0021059 MONDO:0021062 "MONDO:0016382" MONDO:0021087 "MONDO:0003252" MONDO:0021103 "MONDO:0003900" @@ -2879,7 +2906,6 @@ MONDO:0021255 MONDO:0021254 MONDO:0021256 MONDO:0021254 MONDO:0021278 MONDO:0002469 MONDO:0021286 MONDO:0000371 -MONDO:0021307 MONDO:0005575 MONDO:0021347 MONDO:0004109 MONDO:0021362 MONDO:0005375 MONDO:0021376 MONDO:0006801 @@ -2906,6 +2932,7 @@ MONDO:0021909 "MONDO:0007145" MONDO:0021910 "MONDO:0010988" MONDO:0021937 "MONDO:0011273" MONDO:0021971 "MONDO:0009041" +MONDO:0022109 MONDO:0022145 "MONDO:0008816" MONDO:0022200 "MAXO:0000002" MONDO:0022201 "MAXO:0000004" @@ -2938,6 +2965,8 @@ MONDO:0022698 MONDO:0001167 MONDO:0022725 "MONDO:0015425" MONDO:0022728 MONDO:0007321 MONDO:0022732 +MONDO:0022794 "MONDO:0700015" +MONDO:0022794 "MONDO:0700035" MONDO:0022808 MONDO:0022236 MONDO:0022850 "MONDO:0009114" MONDO:0022856 MONDO:0001217 @@ -2964,7 +2993,6 @@ MONDO:0023211 MONDO:0009260 MONDO:0023217 "MONDO:0015078" MONDO:0023303 "MONDO:0008809" MONDO:0023310 "MONDO:0018925" -MONDO:0023539 MONDO:0023540 MONDO:0023616 "MONDO:0007888" MONDO:0023663 "MONDO:0008318" MONDO:0023807 @@ -2990,7 +3018,6 @@ MONDO:0024460 "MONDO:0005794" MONDO:0024486 "MONDO:0015279" MONDO:0024505 MONDO:0024544 "MONDO:0100259" -MONDO:0024581 MONDO:0024664 MONDO:0024583 "HP:0100790" MONDO:0024597 "MONDO:0014278" MONDO:0024624 @@ -3004,6 +3031,7 @@ MONDO:0025518 "ICD9:995.27" MONDO:0025518 "IEDB:RV" MONDO:0025518 "UMLS:C0004058" MONDO:0026754 "MONDO:0009346" +MONDO:0026768 MONDO:0026782 "MONDO:0020603" MONDO:0026856 MONDO:0027416 "MONDO:0011143" @@ -3016,13 +3044,13 @@ MONDO:0028743 MONDO:0029001 "MONDO:0029000" MONDO:0029042 "HP:0000074" MONDO:0029146 "MONDO:0019407" -MONDO:0030016 MONDO:0100058 +MONDO:0030032 "MONDO:0015350" MONDO:0030965 -MONDO:0032576 MONDO:0100095 MONDO:0032840 MONDO:0016368 MONDO:0032856 MONDO:0019531 MONDO:0033196 MONDO:0033550 +MONDO:0033552 MONDO:0033571 MONDO:0033939 "MONDO:0060564" MONDO:0033967 "MONDO:0015823" @@ -3122,20 +3150,25 @@ MONDO:0044766 MONDO:0044790 "MONDO:0044792" MONDO:0044808 "MONDO:0007492" MONDO:0044924 "MONDO:0017894" +MONDO:0044965 +MONDO:0044967 MONDO:0044969 MONDO:0044971 MONDO:0044974 MONDO:0044975 MONDO:0044976 MONDO:0044977 +MONDO:0044978 MONDO:0044979 MONDO:0044980 +MONDO:0044988 MONDO:0045021 "MONDO:0009114" MONDO:0045027 MONDO:0002051 MONDO:0045028 MONDO:0045029 "MONDO:0002041" MONDO:0045031 "MONDO:0001517" MONDO:0054749 +MONDO:0060593 MONDO:0060649 "MONDO:0100297" MONDO:0060722 "MONDO:0013346" MONDO:0100007 "MONDO:0006702" @@ -3153,6 +3186,11 @@ MONDO:0100229 "MONDO:0100259" MONDO:0100334 "MONDO:0100321" MONDO:0100411 "MONDO:0044923" MONDO:0200001 +MONDO:8000030 +MONDO:8000031 +MONDO:8000032 "MONDO:0019755" +MONDO:8000033 +MONDO:8000034 "MONDO:0000001" NCBITaxon:10624 NCBITaxon:36362 NCBITaxon:10629 NCBITaxon:1891762 NCBITaxon:11027 NCBITaxon:2169701 diff --git a/reports/obsoletion-candidates.tsv b/reports/obsoletion-candidates.tsv index d233efa8ae..a18214e021 100644 --- a/reports/obsoletion-candidates.tsv +++ b/reports/obsoletion-candidates.tsv @@ -1,126 +1,68 @@ cls clsLabel -MONDO:0000651 "thoracic disorder" +MONDO:0003804 "blood protein disease" MONDO:0004553 "extrinsic allergic alveolitis" MONDO:0004771 "Fuchs' heterochromic uveitis" +MONDO:0004955 "metabolic syndrome" +MONDO:0005042 "head disorder" MONDO:0005992 "trichinosis" MONDO:0006147 "chronic eosinophilic leukemia, not otherwise specified" MONDO:0006584 "neonatal jaundice" -MONDO:0006588 "nonepidermolytic palmoplantar keratoderma" MONDO:0006600 "pigmentation disease" MONDO:0007061 "acylase, cobalt-activated" -MONDO:0007139 "Antipyrine metabolism" -MONDO:0007141 "antiviral state repressor, regulator of" -MONDO:0007317 "chlorpropamide-alcohol flushing" -MONDO:0007331 "cleft chin" -MONDO:0007532 "Electroencephalographic peculiarity: occipital slow beta waves" -MONDO:0007591 "facial hypertrichosis" -MONDO:0007622 "flood factor deficiency" -MONDO:0007645 "gastric sneezing" -MONDO:0007692 "hairy ears" MONDO:0007780 "hypertelorism, Teebi type" MONDO:0007810 "autosomal dominant ichthyosis vulgaris" -MONDO:0007822 "incisors, long upper central" -MONDO:0007823 "insulin receptors, familial increase 1N" MONDO:0008042 "myoclonus and ataxia" -MONDO:0008068 "navicular bone, accessory" -MONDO:0008110 "ocular dominance" -MONDO:0008326 "pseudocholinesterase, increase in plasma level of" MONDO:0008345 "idiopathic pulmonary fibrosis" -MONDO:0008351 "pupil, egg-shaped" -MONDO:0008405 "scapula, contour of vertebral border of" -MONDO:0008432 "ketone compounds, ability to smell" -MONDO:0008548 "theophylline Biotransformation" -MONDO:0008616 "twinning due to superfetation" -MONDO:0008625 "urate-binding globulin, decrease 1N" -MONDO:0008677 "widow's peak" -MONDO:0008791 "isolated anencephaly/exencephaly" MONDO:0008852 "congenital central hypoventilation syndrome" MONDO:0008856 "immunodeficiency 27A" MONDO:0008940 "endosteal sclerosis-cerebellar hypoplasia syndrome" MONDO:0008942 "cerebelloparenchymal disorder II" MONDO:0009096 "hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia" -MONDO:0009125 "dopamine beta-hydroxylase, plasma, thermolability of" -MONDO:0009250 "fructose utilization" MONDO:0009316 "hair defect-photosensitivity-intellectual disability syndrome" -MONDO:0009553 "Plasmodium falciparum blood infection level" -MONDO:0009829 "pallidal degeneration, progressive, with retinitis pigmentosa" -MONDO:0009930 "pulmonary arteriovenous malformation" MONDO:0010113 "thalidomide susceptibility" -MONDO:0010705 "ouabain resistance" MONDO:0010783 "Alzheimer disease, susceptibility to, mitochondrial" -MONDO:0010994 "micromelic dwarfism, Fryns type" MONDO:0011111 "horns in sheep" MONDO:0011319 "activator of liver function 1" -MONDO:0011554 "deafness, nonsyndromic, modifier 1" -MONDO:0011692 "basal ganglia calcification, idiopathic, 2" MONDO:0011707 "familial dyskinesia and facial myokymia" -MONDO:0013538 "alpha-2-macroglobulin deficiency" -MONDO:0013586 "Chitotriosidase deficiency" MONDO:0013733 "accelerated tumor formation, susceptibility to" -MONDO:0013799 "efavirenz, poor metabolism of" -MONDO:0014053 "stomatin-like protein-2, hyperphosphorylation of" -MONDO:0014253 "autoimmune lymphoproliferative syndrome type 3" +MONDO:0014129 "autosomal recessive limb-girdle muscular dystrophy type 2R" MONDO:0014616 "Skint1-like pseudogene" -MONDO:0014826 "nucleoside diphosphate-linked moiety X Motif 15 deficiency" -MONDO:0015153 "autosomal monosomy" MONDO:0015551 "basal epidermolysis bullosa simplex" +MONDO:0015879 "non-syndromic diaphragmatic or thoracic malformation" +MONDO:0015880 "syndromic diaphragmatic or thoracic malformation" MONDO:0016036 "Ledderhose disease" MONDO:0016626 "hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency" -MONDO:0016946 "partial trisomy of the short arm of chromosome 9" -MONDO:0016962 "partial duplication of the long arm of chromosome 11" -MONDO:0016963 "partial duplication of the long arm of chromosome 13" -MONDO:0016998 "complex chromosomal rearrangement" -MONDO:0016999 "X chromosome number anomaly" -MONDO:0017002 "polysomy of X chromosome" -MONDO:0017005 "Y chromosome number anomaly" -MONDO:0017006 "X and Y chromosomal anomaly" -MONDO:0017011 "uniparental disomy of chromosome X" -MONDO:0017412 "2q31.1 microduplication syndrome" -MONDO:0018186 "ring chromosome" +MONDO:0018138 "ocular albinism with congenital sensorineural hearing loss" MONDO:0019341 "tuberous sclerosis complex" MONDO:0019511 "autosomal dominant medullary cystic kidney disease with hyperuricemia" -MONDO:0019683 "syndactyly type 2" +MONDO:0019664 "short rib-polydactyly syndrome, Verma-Naumoff type" MONDO:0019774 "Holmes-Gang syndrome" -MONDO:0020050 "autosomal trisomy" -MONDO:0020053 "total autosomal monosomy" -MONDO:0020054 "partial autosomal monosomy" -MONDO:0020055 "autosomal uniparental disomy" -MONDO:0020056 "uniparental disomy of maternal origin" -MONDO:0020057 "uniparental disomy of paternal origin" -MONDO:0020059 "gonosome number anomaly" -MONDO:0020060 "gonosome structural anomaly" -MONDO:0020061 "chromosome Y structural anomaly" -MONDO:0020062 "chromosome X structural anomaly" +MONDO:0020051 "total autosomal trisomy" +MONDO:0020052 "partial autosomal trisomy/tetrasomy" MONDO:0020218 "goniodysgenesis" MONDO:0020220 "corneoiridogoniodysgenesis" MONDO:0020247 "congenital vitreoretinal dysplasia" MONDO:0020248 "vitreoretinal degeneration" MONDO:0020312 "atypical chronic myeloid leukemia" MONDO:0020358 "coloboma of optic disc" +MONDO:0020591 "disorder of peritoneum" +MONDO:0020595 "disorder of retroperitoneum" MONDO:0020670 "antithrombin deficiency type 2" -MONDO:0020734 "erythrocyte AMP deaminase deficiency" -MONDO:0021059 "head or neck disorder/disorder" +MONDO:0021016 "channelopathy" MONDO:0021191 "malignant ependymoma" -MONDO:0022109 "catatrichy" MONDO:0022556 "oculo-cerebral dysplasia" -MONDO:0022794 "chromosome 8 deletion" MONDO:0022916 "cystic hygroma lethal cleft palate" MONDO:0022926 "daentl towsend Siegel syndrome" MONDO:0023000 "dobrow syndrome" -MONDO:0026768 "warfarin sensitivity, X-linked" -MONDO:0030032 "chromosome 17q11.2 duplication syndrome, 1.4-mb" MONDO:0032647 "global developmental delay, lung cysts, overgrowth, and wilms tumor" -MONDO:0033552 "blood group, lewis system" MONDO:0035370 "ALPI-related inflammatory bowel disease" MONDO:0042908 "Schaap-Taylor-Baraitser syndrome" +MONDO:0043707 "mediastinal disorder" MONDO:0044354 "Rosai-Dorfman disease" MONDO:0044684 "tuberculous meningitis" -MONDO:0044965 "abdominal and pelvic region disorder" -MONDO:0044967 "limb disorder" -MONDO:0044978 "disease of cell nucleus" -MONDO:0044988 "hip region disorder" +MONDO:0044989 "foot disorder" +MONDO:0044990 "hand disorder" MONDO:0056821 "bronchiolitis obliterans organizing pneumonia" -MONDO:0060593 "actn3 deficiency" MONDO:0100243 "inherited paroxysmal nocturnal hemoglobinuria" MONDO:0100245 "acquired paroxysmal nocturnal hemoglobinuria" MONDO:0100376 "acute myeloid leukemia, t(9;11)(p21.3;q23.3)" diff --git a/reports/superclass-count.tsv b/reports/superclass-count.tsv index 352580e021..ce2adb1ae9 100644 --- a/reports/superclass-count.tsv +++ b/reports/superclass-count.tsv @@ -34,7 +34,6 @@ GO:2001200 "positive regulation of dendritic cell differentiation" 2 ECTO:0000496 "exposure to alkylating agent" 1 MONDO:0011167 "type 1 diabetes mellitus 6" 1 UBERON:0002368 "endocrine gland" 1 -MONDO:0011692 "basal ganglia calcification, idiopathic, 2" 2 MONDO:0010830 "neuronal ceroid lipofuscinosis 8" 2 MONDO:0016712 "classic medulloblastoma" 1 http://identifiers.org/hgnc/8022 "NT5C2" 1 @@ -694,7 +693,7 @@ GO:0043470 "regulation of carbohydrate catabolic process" 2 MONDO:0014656 "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2" 2 CHEBI:63248 "oxidising agent" 1 MONDO:0005406 "gestational diabetes" 2 -MONDO:0022760 "chromosome 22q deletion" 2 +MONDO:0022760 "chromosome 22q deletion" 1 GO:2000829 "negative regulation of parathyroid hormone secretion" 3 NCBITaxon:6682 "Eucarida" 1 MONDO:0020694 "salivary gland epithelial myoepithelial carcinoma" 2 @@ -804,7 +803,6 @@ MONDO:0100070 "neuroendocrine disorder" 2 UBERON:0005075 "forebrain-midbrain boundary" 1 UBERON:0004755 "skeletal tissue" 1 UBERON:0007475 "matrix-based tissue" 1 -MONDO:0022794 "chromosome 8 deletion" 1 UBERON:0001472 "vaginal venous plexus" 2 MONDO:0014671 "neuropathy, hereditary motor and sensory, type 6B" 2 CHR:9606-chr12q15-q21.1 "12q15-q21.1 (Human)" 1 @@ -835,7 +833,7 @@ CHEBI:35293 "fused compound" 1 NCBITaxon:120793 "Mycobacterium avium complex (MAC)" 1 MONDO:0012256 "hereditary spastic paraplegia 28" 1 UBERON:0002184 "segmental bronchus" 1 -MONDO:0044789 "digital papillary eccrine carcinoma" 2 +MONDO:0044789 "digital papillary eccrine carcinoma" 1 http://identifiers.org/hgnc/6015 "IL4R" 1 http://identifiers.org/hgnc/6769 "SMAD3" 1 UBERON:0003608 "hindlimb long bone" 2 @@ -846,7 +844,6 @@ HP:0012825 "Mild" 1 ENVO:00001999 "marine water body" 3 ENVO:01000755 "aeroform"@en 1 FOODON:03420144 "plant above surface, excluding fruit and seed"@en 1 -MONDO:0044965 "abdominal and pelvic region disorder" 1 MONDO:0011509 "low density lipoprotein cholesterol, mild elevation of" 1 CHEBI:33888 "cobalt molecular entity" 1 MONDO:0008026 "autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures" 1 @@ -884,7 +881,7 @@ NCIT:C16273 "Alcohol Consumption" 1 GO:0016101 "diterpenoid metabolic process" 1 CHEBI:35358 "sulfonamide" 3 MONDO:0012275 "fetal valproate syndrome" 3 -MONDO:0016851 "maternal uniparental disomy of chromosome X" 3 +MONDO:0016851 "maternal uniparental disomy of chromosome X" 2 HP:0010980 "Hyperlipoproteinemia" 1 MONDO:0009544 "macrocephaly/megalencephaly syndrome, autosomal recessive" 1 GO:0010923 "negative regulation of phosphatase activity" 3 @@ -1004,7 +1001,7 @@ MONDO:0014749 "tooth agenesis, selective, 7" 1 GO:0022832 "voltage-gated channel activity" 1 GO:0001508 "action potential" 1 MONDO:0003840 "epicardium lipoma" 2 -MONDO:0004431 "hemarthrosis" 2 +MONDO:0004431 "hemarthrosis" 1 UBERON:0001648 "vestibulocochlear nerve" 2 UBERON:0005619 "secondary palatal shelf" 1 MONDO:0009724 "nail-patella-like renal disease" 1 @@ -1155,10 +1152,9 @@ NCBITaxon:227984 "SARS coronavirus Tor2" 1 MONDO:0033311 "Joubert syndrome 33" 1 GO:0007147 "female meiosis II" 2 http://identifiers.org/hgnc/23573 "MORC2" 1 -MONDO:0019339 "47,XYY syndrome" 3 +MONDO:0019339 "47,XYY syndrome" 2 http://identifiers.org/hgnc/18971 "AP1S3" 1 MONDO:0021367 "leukemia, myeloid, accelerated-phase" 1 -MONDO:0044978 "disease of cell nucleus" 1 http://identifiers.org/hgnc/9802 "RAC2" 1 MONDO:0000681 "tactile agnosia" 1 HsapDv:0000080 "immature stage" 1 @@ -1389,7 +1385,6 @@ MONDO:0007393 "cranioacrofacial syndrome" 1 UBERON:0003416 "mesenchyme of tongue" 1 MONDO:0014398 "combined oxidative phosphorylation defect type 21" 2 MONDO:0009546 "macrosomia adiposa congenita" 1 -MONDO:0016963 "partial duplication of the long arm of chromosome 13" 1 http://identifiers.org/hgnc/9462 "PRPS1" 1 MONDO:0001842 "uterine corpus dissecting leiomyoma" 1 MONDO:0014397 "combined oxidative phosphorylation defect type 20" 2 @@ -1519,7 +1514,6 @@ GO:0019203 "carbohydrate phosphatase activity" 1 CHEBI:52209 "aetiopathogenetic role" 1 http://identifiers.org/hgnc/19189 "DOCK6" 1 MONDO:0030270 "lymphatic malformation 9" 1 -MONDO:0016962 "partial duplication of the long arm of chromosome 11" 1 MONDO:0002462 "glomerulonephritis" 2 GO:0019220 "regulation of phosphate metabolic process" 1 MONDO:0006081 "anal melanoma" 2 @@ -1698,7 +1692,7 @@ MONDO:0002508 "gingivitis" 2 MONDO:0004095 "B-cell neoplasm" 2 MONDO:0020172 "palpebral epidermal tumor" 1 MONDO:0013395 "retinitis pigmentosa 4" 1 -MONDO:0015431 "ring chromosome 10" 5 +MONDO:0015431 "ring chromosome 10" 4 http://identifiers.org/hgnc/19100 "IL23R" 1 MONDO:0005029 "essential thrombocythemia" 2 MONDO:0013206 "corneal dystrophy, Fuchs endothelial, 6" 1 @@ -1718,7 +1712,7 @@ PATO:0001910 "folded" 1 http://identifiers.org/hgnc/2212 "COL6A2" 1 UBERON:0001311 "inferior vesical artery" 2 PATO:0002266 "3-D shape" 1 -MONDO:0015432 "ring chromosome 12" 3 +MONDO:0015432 "ring chromosome 12" 2 MONDO:0008659 "transcobalamin I deficiency" 1 HP:0000234 "Abnormality of the head" 1 MONDO:0009411 "autoimmune polyendocrine syndrome type 1" 4 @@ -1727,7 +1721,7 @@ MONDO:0010401 "X-linked myopathy with postural muscle atrophy" 1 MONDO:0025082 "helminthiasis, animal" 2 MONDO:0004425 "hyperthyroidism" 1 CL:0000402 "CNS interneuron" 3 -MONDO:0001541 "plantar nerve lesion" 2 +MONDO:0001541 "plantar nerve lesion" 1 MONDO:0032706 "spinocerebellar ataxia, autosomal recessive 27" 1 MONDO:0009189 "multiple epiphyseal dysplasia type 4" 2 GO:0033343 "positive regulation of collagen binding" 2 @@ -1751,7 +1745,7 @@ MONDO:0017884 "papillary renal cell carcinoma" 2 UBERON:0003294 "gland of foregut" 1 NCBITaxon:633 "Yersinia pseudotuberculosis" 1 MONDO:0024462 "familial cutaneous melanoma" 1 -MONDO:0015433 "ring chromosome 17" 3 +MONDO:0015433 "ring chromosome 17" 2 http://identifiers.org/hgnc/2213 "COL6A3" 1 MONDO:0018758 "familial patent arterial duct" 2 UBERON:0010183 "liver trabecula" 1 @@ -1772,7 +1766,6 @@ MONDO:0004381 "pancreatic intraductal papillary-mucinous neoplasm with low grade MONDO:0017074 "cervicothoracic spina bifida cystica" 1 CHEBI:84143 "D-phenylalanine derivative" 2 PATO:0001544 "flexible" 1 -MONDO:0011554 "deafness, nonsyndromic, modifier 1" 1 MONDO:0013623 "platelet-type bleeding disorder 11" 1 MONDO:0020670 "antithrombin deficiency type 2" 1 MONDO:0009959 "peroxisome biogenesis disorder type 3B" 1 @@ -1796,7 +1789,7 @@ MONDO:0017572 "tick-borne encephalitis" 2 MONDO:0002939 "skin pigmented basal cell carcinoma" 1 MONDO:0017188 "diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency" 2 NCBITaxon:1963758 "Myomorpha" 1 -MONDO:0021350 "neoplasm of thorax" 2 +MONDO:0021350 "neoplasm of thorax" 1 MONDO:0001250 "keratomalacia" 1 MONDO:0009425 "hypomandibular faciocranial dysostosis" 2 CL:0000236 "B cell" 1 @@ -1953,7 +1946,7 @@ MONDO:0019552 "centrifugal lipodystrophy" 1 http://identifiers.org/hgnc/29092 "OBSL1" 1 MONDO:0019092 "infantile apnea" 1 MONDO:0010066 "familial isolated congenital asplenia" 2 -MONDO:0007885 "Legg-Calve-Perthes disease" 2 +MONDO:0007885 "Legg-Calve-Perthes disease" 1 MONDO:0018832 "HTRA1-related autosomal dominant cerebral small vessel disease" 1 SO:0000669 "sequence_rearrangement_feature" 1 MONDO:0009537 "lymphoid interstitial pneumonia" 1 @@ -2118,7 +2111,6 @@ UBERON:0012353 "fin skeleton" 1 MONDO:0002636 "accessory nerve disorder" 2 MONDO:0012546 "nephrotic syndrome, type 3" 1 MONDO:0042968 "partial duplication of chromosome 12" 3 -MONDO:0009250 "fructose utilization" 1 MONDO:0009847 "pericardial effusion, chronic" 2 HP:0012730 "Aglossia" 1 CL:0000973 "IgA memory B cell" 1 @@ -2167,7 +2159,7 @@ MONDO:0001544 "tibial nerve palsy" 1 MONDO:0003789 "hereditary papillary renal cell carcinoma" 2 MONDO:0006686 "brain stem infarction" 1 FOODON:00002451 "food transformation process"@en 1 -MONDO:0015434 "ring chromosome 18" 3 +MONDO:0015434 "ring chromosome 18" 2 MONDO:0015505 "tracheal anomaly" 2 MONDO:0018113 "isolated plagiocephaly" 2 MONDO:0016479 "silver-Russell syndrome due to 7p11.2p13 microduplication" 2 @@ -2213,7 +2205,7 @@ MONDO:0008676 "white sponge nevus 1" 1 MONDO:0001593 "rectal disorder" 1 NCBITaxon:42230 "Mansonella" 1 CL:1000284 "smooth muscle fiber of descending colon" 1 -MONDO:0015435 "ring chromosome 19" 3 +MONDO:0015435 "ring chromosome 19" 2 MONDO:0010782 "myopathy, lactic acidosis, and sideroblastic anemia 3" 1 http://identifiers.org/hgnc/8773 "PDE11A" 1 PATO:0002507 "keratinous" 1 @@ -2297,7 +2289,7 @@ GO:0033157 "regulation of intracellular protein transport" 3 MONDO:0013583 "occipital pachygyria and polymicrogyria" 2 MONDO:0002982 "peripheral primitive neuroectodermal tumor of soft tissues" 2 UBERON:0004934 "submucosa of body of stomach" 1 -MONDO:0015028 "48,XXYY syndrome" 5 +MONDO:0015028 "48,XXYY syndrome" 3 GO:0030521 "androgen receptor signaling pathway" 1 MONDO:0024327 "chronic renal failure syndrome" 2 UBERON:0006232 "facio-acoustic VII-VIII preganglion complex" 1 @@ -2328,7 +2320,6 @@ MONDO:0024326 "pleural adenomatoid tumor" 4 MONDO:0005965 "spinal stenosis" 2 UBERON:0014887 "distal epiphysis of distal phalanx of digit" 1 MONDO:0017742 "disorder of O-xylosylglycan synthesis" 1 -MONDO:0030032 "chromosome 17q11.2 duplication syndrome, 1.4-mb" 1 GO:1904774 "negative regulation of ubiquinone biosynthetic process" 3 NCBITaxon:186538 "Zaire ebolavirus" 1 MONDO:0020582 "benign uterine ligament neoplasm" 3 @@ -2415,7 +2406,7 @@ MONDO:0008325 "Pseudoatrophoderma colli" 1 MONDO:0012291 "immunoglobulin A deficiency 2" 1 MONDO:0011602 "autosomal recessive nonsyndromic hearing loss 27" 1 UBERON:0003831 "respiratory system muscle" 1 -MONDO:0015438 "ring chromosome 22" 3 +MONDO:0015438 "ring chromosome 22" 2 MONDO:0032758 "neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia" 1 NCBITaxon:783 "Rickettsia rickettsii" 1 MONDO:0012924 "Diamond-Blackfan anemia 4" 1 @@ -2436,7 +2427,7 @@ HP:0010541 "Cutis gyrata of scalp" 2 CL:1000426 "chromaffin cell of adrenal gland" 2 MONDO:0018724 "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome" 5 MONDO:0003430 "prolactin producing pituitary tumor" 1 -MONDO:0021512 "benign neoplasm of thymus" 4 +MONDO:0021512 "benign neoplasm of thymus" 3 MONDO:0012044 "corneal dystrophy, lattice type 3A" 2 MONDO:0001650 "acute cystitis" 3 MONDO:0007157 "arthrogryposis, distal, type 1A" 1 @@ -2463,7 +2454,7 @@ MONDO:0010875 "pachydermodactyly, familial" 1 MONDO:0043579 "enteritis" 2 MONDO:0018599 "congenital oculomotor nerve palsy" 2 UBERON:0034921 "multi organ part structure" 1 -MONDO:0015437 "ring chromosome 21" 3 +MONDO:0015437 "ring chromosome 21" 2 UBERON:0000487 "simple squamous epithelium" 2 UBERON:0035004 "preputial swelling" 1 ENVO:01000334 "talus slope" 1 @@ -2501,7 +2492,7 @@ GO:0045936 "negative regulation of phosphate metabolic process" 2 MONDO:0014009 "autosomal recessive congenital ichthyosis 7" 1 GO:0002377 "immunoglobulin production" 1 UBERON:0003339 "ganglion of central nervous system" 1 -MONDO:0015436 "ring chromosome 20" 5 +MONDO:0015436 "ring chromosome 20" 4 MONDO:0006346 "pancreatic acinar cell carcinoma" 2 MONDO:0005890 "osteitis fibrosa" 1 MONDO:0010131 "thyroid hormone resistance, generalized, autosomal recessive" 2 @@ -2668,7 +2659,6 @@ CL:2000007 "articular chondrocyte of knee joint" 1 NCBITaxon:742845 "Malasseziaceae" 1 CL:1000510 "kidney glomerular epithelial cell" 1 MONDO:0017506 "congenital absence/hypoplasia of thumb, unilateral" 1 -MONDO:0020061 "chromosome Y structural anomaly" 1 MONDO:0024487 "nail infection" 2 MONDO:0024229 "miliaria crystallina" 1 MONDO:0008653 "vesicoureteral reflux 1" 1 @@ -2815,7 +2805,7 @@ http://identifiers.org/hgnc/2433 "CSF1R" 1 MONDO:0003850 "clivus chondroid chordoma" 2 MONDO:0020837 "oocyte maturation defect 5" 1 MONDO:0016775 "lichen planus pemphigoides" 1 -MONDO:0044343 "cervical disc degenerative disorder" 2 +MONDO:0044343 "cervical disc degenerative disorder" 1 MONDO:0003760 "pediatric ovarian germ cell tumor" 2 UBERON:0001148 "median nerve" 1 MONDO:0015283 "maternally-inherited cardiomyopathy and hearing loss" 1 @@ -2867,7 +2857,6 @@ MONDO:0001625 "corpus luteum cyst" 1 UBERON:0003041 "trigeminal nerve fibers" 1 http://identifiers.org/hgnc/6938 "CHST6" 1 CL:0000240 "stratified squamous epithelial cell" 2 -MONDO:0010994 "micromelic dwarfism, Fryns type" 2 MONDO:0044787 "nasal cavity and paranasal sinus squamous cell carcinoma" 2 CL:0009029 "mesothelial cell of appendix" 2 MONDO:0008760 "beta-ketothiolase deficiency" 3 @@ -3530,7 +3519,7 @@ MONDO:0004502 "parapharyngeal meningioma" 1 MONDO:0001626 "traumatic glaucoma" 1 MONDO:0030491 "immunodeficiency 91 and hyperinflammation" 1 NCBITaxon:6944 "Ixodes" 1 -MONDO:0016651 "maternal uniparental disomy of chromosome 1" 3 +MONDO:0016651 "maternal uniparental disomy of chromosome 1" 2 UBERON:0011775 "vagus nerve nucleus" 2 GO:0045843 "negative regulation of striated muscle tissue development" 3 NCBITaxon:33265 "Dictyocaulinae" 1 @@ -3733,7 +3722,7 @@ http://identifiers.org/hgnc/30551 "TXNL4A" 1 http://identifiers.org/hgnc/30829 "TUBB2B" 1 MONDO:0044915 "salivary duct carcinoma" 2 MONDO:0013467 "immunodeficiency due to ficolin3 deficiency" 1 -MONDO:0005728 "diaphragm disorder" 3 +MONDO:0005728 "diaphragm disorder" 2 MONDO:0003257 "posterior pituitary gland neoplasm" 1 PATO:0002478 "transversely striated" 1 MONDO:0009914 "pseudodiastrophic dysplasia" 1 @@ -3743,7 +3732,7 @@ GO:0030857 "negative regulation of epithelial cell differentiation" 2 UBERON:2005260 "fenestrated capillary" 2 MONDO:0010864 "type 1 diabetes mellitus 7" 1 MONDO:0025556 "isocyanate induced asthma" 1 -MONDO:0011747 "dyslexia, susceptibility to, 5" 2 +MONDO:0011747 "dyslexia, susceptibility to, 5" 1 NCBITaxon:2547934 "Blastocystidae" 1 http://identifiers.org/hgnc/17761 "TREM2" 1 HP:0032309 "Abnormal granulocyte count" 2 @@ -3772,7 +3761,7 @@ UBERON:0034969 "epithelial layer of duct" 1 http://identifiers.org/hgnc/7481 "MT-TF" 1 UBERON:0004681 "vestibular system" 1 MONDO:0014824 "craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome" 6 -MONDO:0012447 "synpolydactyly type 3" 2 +MONDO:0012447 "synpolydactyly type 3" 1 UBERON:0005687 "orbitosphenoid cartilage element" 5 GO:0002343 "peripheral B cell selection" 1 MONDO:0006751 "Erysipelothrix infectious disease" 1 @@ -3862,7 +3851,6 @@ UBERON:0003659 "pedal digit muscle" 1 NCBITaxon:2732408 "Pisuviricota" 1 GO:0060073 "micturition" 2 MONDO:0012531 "xeroderma pigmentosum group B" 2 -MONDO:0014320 "optic atrophy-intellectual disability syndrome" 3 NCBITaxon:6334 "Trichinella spiralis" 1 HP:0030680 "Abnormality of cardiovascular system morphology" 1 MONDO:0033926 "prepubertal anorexia nervosa" 1 @@ -3965,7 +3953,6 @@ MONDO:0013933 "peroxisome biogenesis disorder 5B" 1 UBERON:0011980 "crurotarsal joint" 1 FOODON:03420127 "animal body or body part"@en 1 UBERON:0007732 "interphalangeal joint of manual digit 5" 1 -MONDO:0017006 "X and Y chromosomal anomaly" 1 MONDO:0021464 "benign neoplasm of cecum" 2 MONDO:0013686 "distal myopathy, Tateyama type" 1 MONDO:0007556 "epidermolysis bullosa simplex 2F, with mottled pigmentation" 1 @@ -4071,7 +4058,6 @@ http://identifiers.org/hgnc/1678 "CD4" 1 CHR:9606-chr12q14 "12q14 (Human)" 1 GO:0019221 "cytokine-mediated signaling pathway" 1 CHEBI:16336 "hyaluronic acid" 2 -MONDO:0060593 "actn3 deficiency" 1 MONDO:0001456 "cobblestone retinal degeneration" 1 http://identifiers.org/hgnc/9153 "PNKD" 1 MONDO:0006608 "seborrheic dermatitis" 1 @@ -4081,7 +4067,7 @@ MONDO:0013758 "Charcot-Marie-Tooth disease dominant intermediate E" 2 GO:0010951 "negative regulation of endopeptidase activity" 2 MONDO:0016420 "familial flecked retinopathy" 1 MONDO:0005855 "molluscum contagiosum" 1 -MONDO:0017277 "partial deletion of chromosome 12" 3 +MONDO:0017277 "partial deletion of chromosome 12" 2 MONDO:0012518 "congenital myasthenic syndrome 12" 2 MONDO:0009620 "Say-Barber-Miller syndrome" 6 MONDO:0007313 "cheilitis glandularis" 1 @@ -4104,7 +4090,6 @@ UBERON:0002018 "synovial membrane of synovial joint" 4 MONDO:0013812 "Baraitser-winter syndrome 2" 1 UBERON:0010894 "keratinous tooth" 1 MONDO:0008218 "Hailey-Hailey disease" 3 -http://identifiers.org/hgnc/11577 "TAZ" 1 MONDO:0013263 "retinitis pigmentosa 54" 1 UBERON:0001204 "mucosa of small intestine" 1 GO:0002760 "positive regulation of antimicrobial humoral response" 4 @@ -4429,7 +4414,7 @@ CHEBI:33284 "nutrient" 1 GO:0032277 "negative regulation of gonadotropin secretion" 3 NCBITaxon:12721 "Human immunodeficiency virus" 1 MONDO:0013367 "long QT syndrome 2" 1 -MONDO:0016854 "49,XXXYY syndrome" 1 +MONDO:0016854 "49,XXXYY syndrome" 3 MONDO:0010611 "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius" 2 CL:0000762 "nucleated thrombocyte" 2 GO:0016830 "carbon-carbon lyase activity" 1 @@ -5009,9 +4994,8 @@ MONDO:0004990 "breast tumor luminal A or B" 1 GO:0003022 "detection of pH by chemoreceptor signaling" 1 MONDO:0000643 "vulvar benign neoplasm" 2 GO:0002578 "negative regulation of antigen processing and presentation" 2 -MONDO:0044967 "limb disorder" 1 PATO:0015022 "increased combustibility" 2 -MONDO:0005755 "equine infectious anemia" 1 +MONDO:0005755 "equine infectious anemia" 2 MONDO:0019528 "IgG4-related hepatopathy" 1 MONDO:0008569 "thyroid hormone resistance, generalized, autosomal dominant" 2 MONDO:0002040 "dermatomycosis" 1 @@ -5261,7 +5245,7 @@ MONDO:0019243 "inborn disorder of energy metabolism" 1 FOODON:03400172 "prepared food product (us cfr)"@en 1 CL:2000087 "dentate gyrus of hippocampal formation basket cell" 1 http://identifiers.org/hgnc/317 "AFP" 1 -MONDO:0011975 "paternal uniparental disomy of chromosome 14" 6 +MONDO:0011975 "paternal uniparental disomy of chromosome 14" 5 MONDO:0000770 "shellfish allergy" 1 GO:2000196 "positive regulation of female gonad development" 2 UBERON:0004761 "cartilaginous neurocranium" 1 @@ -5454,7 +5438,6 @@ GO:0032106 "positive regulation of response to extracellular stimulus" 2 CL:0010004 "mononuclear cell of bone marrow" 2 MONDO:0004963 "T-cell acute lymphoblastic leukemia" 1 MONDO:0014214 "short-rib thoracic dysplasia 8 with or without polydactyly" 2 -MONDO:0008351 "pupil, egg-shaped" 1 MONDO:0020698 "inborn error of biotin metabolism" 3 MONDO:0011266 "myotonic dystrophy type 2" 2 NBO:0000550 "recognition memory" 1 @@ -5627,6 +5610,7 @@ UBERON:0001296 "myometrium" 2 MONDO:0004177 "benign urethral neoplasm" 2 MONDO:0001492 "kyphoscoliotic heart disease" 1 MONDO:0006679 "bladder neck obstruction" 1 +MONDO:0013612 "geleophysic dysplasia 2" 1 MONDO:0011923 "osteoarthritis susceptibility 3" 1 MONDO:0009080 "split hand-foot malformation 1 with sensorineural hearing loss" 5 http://identifiers.org/hgnc/22788 "FEZF1" 1 @@ -6146,7 +6130,6 @@ MONDO:0013191 "focal segmental glomerulosclerosis 5" 1 CL:0011012 "neural crest cell" 2 MONDO:0017575 "mitochondrial neurogastrointestinal encephalomyopathy" 4 MONDO:0030519 "agammaglobulinemia 9, autosomal recessive" 1 -MONDO:0020734 "erythrocyte AMP deaminase deficiency" 1 CHEBI:50176 "keratolytic drug" 1 MONDO:0015791 "peripheral precocious puberty" 1 MONDO:0009468 "pseudotumor cerebri" 2 @@ -6167,6 +6150,7 @@ MONDO:0020441 "right superior vena cava connecting to left-sided atrium" 1 MONDO:0007152 "arrhythmogenic right ventricular dysplasia 1" 1 MONDO:0008472 "spondyloepiphyseal dysplasia, MacDermot type" 2 CL:0001030 "CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor" 1 +MONDO:0018983 "Tolosa-Hunt syndrome" 3 UBERON:0022284 "lacrimal gland bud" 2 MONDO:0009169 "endocardial fibroelastosis" 1 CHR:9606-chr11p1 "11p1 (Human)" 1 @@ -6352,7 +6336,6 @@ MONDO:0018480 "carcinoma of esophagus, salivary gland type" 1 MONDO:0007013 "vasculogenic impotence" 1 MONDO:0100422 "acute myeloid leukemia, RUNX1 gene mutation" 1 http://identifiers.org/hgnc/9325 "PPT1" 1 -MONDO:0007532 "Electroencephalographic peculiarity: occipital slow beta waves" 1 MONDO:0011193 "cone dystrophy 3" 2 MONDO:0010475 "X-linked central congenital hypothyroidism with late-onset testicular enlargement" 3 MONDO:0009695 "myeloproliferative disease, autosomal recessive" 1 @@ -6552,7 +6535,6 @@ UBERON:0003635 "pedal digit 5" 2 GO:0016331 "morphogenesis of embryonic epithelium" 2 GO:0051098 "regulation of binding" 1 MONDO:0012623 "intellectual disability, autosomal recessive 4" 1 -MONDO:0020062 "chromosome X structural anomaly" 1 http://identifiers.org/hgnc/23044 "NANOS1" 1 UBERON:0003631 "pedal digit 1" 2 MONDO:0032850 "neurooculocardiogenitourinary syndrome" 1 @@ -6701,9 +6683,9 @@ GO:0030097 "hemopoiesis" 1 UBERON:0013748 "ulnar metaphysis" 1 MONDO:0008913 "cardiac valvular defect, developmental" 1 MONDO:0016577 "biliary atresia with splenic malformation syndrome" 1 +MONDO:0020745 "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome" 2 MONDO:0012689 "premature ovarian failure 5" 1 CL:2000057 "femural osteoblast" 1 -MONDO:0006588 "nonepidermolytic palmoplantar keratoderma" 1 MONDO:0019794 "autosomal dominant cerebellar ataxia type IV" 1 UBERON:0007699 "tract of spinal cord" 1 MONDO:0013029 "cerebellar ataxia type 9" 1 @@ -6836,7 +6818,7 @@ MONDO:0005090 "schizophrenia" 1 MONDO:0003209 "thymus gland adenocarcinoma" 2 MONDO:0008015 "motion sickness" 3 PATO:0001795 "increased coiling" 2 -MONDO:0023628 "levator syndrome" 4 +MONDO:0023628 "levator syndrome" 3 MONDO:0005762 "Filoviridae infectious disease" 1 MONDO:0002419 "transient tic disorder" 2 GO:0061037 "negative regulation of cartilage development" 3 @@ -6852,7 +6834,7 @@ MONDO:0005970 "staphylococcal pneumonia" 2 MONDO:0019278 "hair anomaly" 2 MONDO:0000417 "early onset absence epilepsy" 1 MONDO:0020523 "familial parathyroid adenoma" 2 -MONDO:0000749 "breast abscess" 1 +MONDO:0000749 "breast abscess" 2 MONDO:0006383 "primary cutaneous diffuse large B-cell lymphoma, Leg type" 2 UBERON:0000962 "nerve of cervical vertebra" 1 GO:1904319 "negative regulation of smooth muscle contraction involved in micturition" 2 @@ -6915,7 +6897,7 @@ CHEBI:24129 "furans" 2 http://identifiers.org/hgnc/7583 "MYL2" 1 MONDO:0008652 "congenital vertical talus" 2 UBERON:0002236 "costal cartilage" 1 -MONDO:0016478 "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion" 2 +MONDO:0016478 "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion" 1 GO:0140110 "transcription regulator activity" 1 UBERON:0012054 "myocoele" 1 UBERON:0000377 "maxillary nerve" 1 @@ -7256,7 +7238,7 @@ GO:0007288 "sperm axoneme assembly" 3 MONDO:0001910 "ochronosis disorder" 3 GO:0046326 "positive regulation of glucose import" 2 CL:0000502 "type D enteroendocrine cell" 2 -MONDO:0001926 "ureteral disorder" 2 +MONDO:0001926 "ureteral disorder" 1 http://identifiers.org/hgnc/32940 "NKX2-6" 1 CHR:9606-chr9q34 "9q34 (Human)" 1 MONDO:0024658 "extrahepatic bile duct sarcoma" 2 @@ -7678,7 +7660,7 @@ UBERON:0001913 "milk" 4 MONDO:0007725 "hereditary progressive mucinous histiocytosis" 1 CHEBI:58315 "L-tyrosine zwitterion" 1 MONDO:0100186 "GTP cyclohydrolase I deficiency with hyperphenylalaninemia" 2 -MONDO:0018066 "trisomy X" 5 +MONDO:0018066 "trisomy X" 4 MONDO:0011649 "AVSD 1" 1 UBERON:0003352 "epithelium of midgut" 1 MONDO:0010902 "spondyloepiphyseal dysplasia, Reardon type" 1 @@ -8195,7 +8177,6 @@ MONDO:0014680 "herpes simplex encephalitis, susceptibility to, 7" 3 UBERON:0002244 "premaxilla" 4 MONDO:0006040 "lactic acidosis" 1 MONDO:0000255 "subcutaneous mycosis" 1 -MONDO:0018186 "ring chromosome" 1 MONDO:0014458 "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" 3 CHEBI:33484 "chalcogen oxoacid" 1 NCBITaxon:1511862 "Carnivore amdoparvovirus 1" 1 @@ -8222,7 +8203,7 @@ NCIT:C49163 "Surgical Procedure by Site or System" 1 GO:0043433 "negative regulation of DNA-binding transcription factor activity" 2 MONDO:0009734 "hyperinsulinemic hypoglycemia, familial, 1" 1 MONDO:0014930 "intellectual disability, autosomal recessive 56" 1 -MONDO:0008513 "synpolydactyly type 1" 2 +MONDO:0008513 "synpolydactyly type 1" 1 ENVO:01001293 "bush area"@en 1 MONDO:0003274 "thoracic cancer" 2 MONDO:0014553 "Tenorio syndrome" 1 @@ -8238,7 +8219,6 @@ GO:0005979 "regulation of glycogen biosynthetic process" 2 MONDO:0017606 "facial nerve palsy due to herpes zoster infection" 3 MONDO:0037255 "ovarian serous tumor" 2 UBERON:0001233 "right adrenal gland" 1 -MONDO:0033552 "blood group, lewis system" 1 UBERON:0001620 "central retinal artery" 2 MONDO:0002785 "skull base neoplasm" 1 NCBITaxon:85819 "Phthiraptera" 1 @@ -8488,8 +8468,8 @@ http://identifiers.org/hgnc/17089 "SYNE1" 1 UBERON:0001829 "major salivary gland" 2 MONDO:0021111 "ureter neoplasm" 2 NCBITaxon:6200 "Eucestoda" 1 -MONDO:0019920 "paternal uniparental disomy of chromosome 5" 3 -MONDO:0019921 "paternal uniparental disomy of chromosome 6" 3 +MONDO:0019920 "paternal uniparental disomy of chromosome 5" 2 +MONDO:0019921 "paternal uniparental disomy of chromosome 6" 2 MONDO:0002194 "vestibular papilloma" 3 MONDO:0001277 "cerebral arteritis" 3 MONDO:0004268 "subareolar duct papillomatosis" 1 @@ -8562,7 +8542,7 @@ GO:0048608 "reproductive structure development" 2 MONDO:0000684 "verbal auditory agnosia" 1 NCBITaxon:32561 "Sauria" 1 MONDO:0020754 "visceral myopathy" 1 -MONDO:0019922 "paternal uniparental disomy of chromosome 7" 3 +MONDO:0019922 "paternal uniparental disomy of chromosome 7" 2 CHEBI:33267 "elemental nitrogen" 2 NCBITaxon:2701 "Gardnerella" 1 http://identifiers.org/hgnc/15646 "KLHL7" 1 @@ -8840,7 +8820,7 @@ GO:2000385 "positive regulation of ectoderm development" 2 MONDO:0100057 "food-dependent exercise-induced anaphylaxis" 1 CHR:9606-chr20q13.33 "20q13.33 (Human)" 1 MONDO:0015020 "intellectual disability, autosomal recessive 59" 1 -MONDO:0007006 "ulnar neuropathy" 3 +MONDO:0007006 "ulnar neuropathy" 2 http://identifiers.org/hgnc/12974 "RNF113A" 1 MONDO:0015133 "quantitative and/or qualitative congenital phagocyte defect" 2 UBERON:0010528 "pneumatic cavity of bone" 1 @@ -9160,7 +9140,7 @@ MONDO:0017569 "de Barsy syndrome" 2 UBERON:0009913 "renal lobe" 1 MONDO:0016087 "progressive non-infectious anterior vertebral fusion" 2 NCBITaxon:5794 "Apicomplexa" 1 -MONDO:0020470 "49,XYYYY syndrome" 4 +MONDO:0020470 "49,XYYYY syndrome" 3 UBERON:0004100 "renal collecting system" 1 MONDO:0007172 "atrial septal defect 1" 1 CHEBI:37332 "tropane alkaloid" 2 @@ -9510,7 +9490,7 @@ MONDO:0001775 "chronic duodenal ileus" 1 MONDO:0001742 "interval angle-closure glaucoma" 1 MONDO:0010859 "atrioventricular septal defect 3" 1 MONDO:0010443 "macular degeneration, X-linked atrophic" 2 -MONDO:0020466 "monosomy X" 2 +MONDO:0020466 "monosomy X" 3 MONDO:0001606 "central nervous system leukemia" 2 UBERON:0005085 "ectodermal placode" 2 MONDO:0004935 "acquired carotenemia" 2 @@ -9586,7 +9566,6 @@ MONDO:0022196 "chronic erosive gastritis" 1 MONDO:0020375 "coralliform cataract" 1 ENVO:01000983 "technosphere"@en 1 MONDO:0019950 "congenital muscular dystrophy" 2 -MONDO:0021059 "head or neck disorder/disorder" 1 UBERON:0000325 "gastric gland" 2 ECTO:9001701 "exposure to reagent" 1 MONDO:0015339 "adrenomyeloneuropathy" 2 @@ -9969,9 +9948,9 @@ MONDO:0020726 "tubulointerstitial kidney disease, autosomal dominant, 2" 2 MONDO:0010858 "macrocephaly-spastic paraplegia-dysmorphism syndrome" 6 CL:0000981 "double negative memory B cell" 1 UBERON:0010890 "pelvic complex muscle" 1 -MONDO:0018027 "duplication/inversion 15q11" 3 +MONDO:0018027 "duplication/inversion 15q11" 1 MONDO:0015483 "mandibulofacial dysostosis" 1 -MONDO:0010348 "dyslexia, susceptibility to, 9" 2 +MONDO:0010348 "dyslexia, susceptibility to, 9" 1 HP:0040215 "Abnormal circulating insulin level" 1 MONDO:0019286 "sebaceous gland anomaly" 2 MONDO:0010101 "Teebi-Shaltout syndrome" 2 @@ -10349,7 +10328,6 @@ MONDO:0013671 "hydatidiform mole, recurrent, 2" 2 MONDO:0019848 "posterior hypospadias" 1 MONDO:0008670 "Waardenburg syndrome type 1" 1 MONDO:0011003 "dilated cardiomyopathy 1E" 2 -MONDO:0007692 "hairy ears" 1 UBERON:0006916 "non-keratinized epithelium of tongue" 2 MONDO:0000483 "oculogyric crisis" 1 MONDO:0022685 "cerebellar agenesis" 1 @@ -10429,7 +10407,7 @@ GO:0098542 "defense response to other organism" 3 GO:1901862 "negative regulation of muscle tissue development" 2 HP:0000252 "Microcephaly" 2 ENVO:00002030 "aquatic biome" 2 -MONDO:0003607 "neuritis of upper limb" 2 +MONDO:0003607 "neuritis of upper limb" 1 http://identifiers.org/hgnc/8927 "PHKB" 1 MONDO:0016481 "silver-Russell syndrome due to 11p15 microduplication" 2 GO:0051983 "regulation of chromosome segregation" 1 @@ -10485,7 +10463,7 @@ MONDO:0008793 "angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert" MONDO:0019562 "localized scleroderma" 1 MONDO:0003713 "angiokeratoma circumscriptum" 1 MONDO:0018962 "common mesentery" 1 -MONDO:0019525 "tetrasomy X" 4 +MONDO:0019525 "tetrasomy X" 3 UBERON:0003838 "abdominal segment connective tissue" 1 MONDO:0000758 "bacillary angiomatosis" 4 MONDO:0017708 "mevalonate kinase deficiency" 3 @@ -10497,7 +10475,7 @@ MONDO:0020393 "discrete fibromuscular subaortic stenosis" 1 MONDO:0012015 "nystagmus 3, congenital, autosomal dominant" 1 MONDO:0018911 "maturity-onset diabetes of the young" 1 MONDO:0008056 "myotonic dystrophy type 1" 4 -MONDO:0017438 "amelia of lower limb" 2 +MONDO:0017438 "amelia of lower limb" 1 MONDO:0010117 "3M syndrome 1" 1 UBERON:0004404 "distal epiphysis of humerus" 2 HP:0031690 "Opportunistic infection" 1 @@ -10510,7 +10488,7 @@ MONDO:0010423 "hypospadias 2, X-linked" 1 GO:0019363 "pyridine nucleotide biosynthetic process" 3 MONDO:0002515 "hepatobiliary disorder" 1 NCBITaxon:451507 "Mucoromycotina" 1 -MONDO:0016654 "ring chromosome 5" 3 +MONDO:0016654 "ring chromosome 5" 2 MONDO:0007937 "renal hypomagnesemia 2" 1 MONDO:0016847 "trisomy 1q" 1 MONDO:0002816 "adrenal cortex disorder" 1 @@ -10701,7 +10679,7 @@ http://identifiers.org/hgnc/20800 "SLC35D1" 1 http://identifiers.org/hgnc/986 "BCKDHA" 1 MONDO:0010628 "immunoglobulin M, level of" 1 MONDO:0003445 "extrahepatic bile duct adenoma" 2 -MONDO:0002884 "nail disorder" 2 +MONDO:0002884 "nail disorder" 1 http://identifiers.org/hgnc/15964 "DAZ2" 1 http://identifiers.org/hgnc/15965 "DAZ3" 1 MONDO:0005006 "clear cell sarcoma of kidney" 2 @@ -10842,7 +10820,6 @@ MONDO:0001631 "vertebral artery insufficiency" 4 http://identifiers.org/hgnc/8028 "NTHL1" 1 MONDO:0012999 "guanidinoacetate methyltransferase deficiency" 3 UBERON:0007373 "inferior surface of tongue" 1 -MONDO:0007822 "incisors, long upper central" 1 MONDO:0016211 "non-papillary transitional cell carcinoma of the bladder" 1 MONDO:0043885 "eye infectious disorder" 2 http://identifiers.org/hgnc/4932 "HLA-B" 1 @@ -10895,7 +10872,7 @@ MONDO:0007564 "pilomatrixoma" 1 GO:0061448 "connective tissue development" 1 MONDO:0005750 "ephemeral fever" 1 UBERON:0011921 "connecting stalk blood islands" 3 -MONDO:0015197 "aneurysm of sinus of Valsalva" 3 +MONDO:0015197 "aneurysm of sinus of Valsalva" 2 MONDO:0017636 "hemiparkinsonism-hemiatrophy syndrome" 1 CHR:9606-chrXp11.23-p11.22 "Xp11.23-p11.22 (Human)" 1 MONDO:0006442 "tendon sheath fibroma" 2 @@ -10960,7 +10937,7 @@ MONDO:0013124 "pelvic organ prolapse, susceptibility to, 2" 2 GO:0051173 "positive regulation of nitrogen compound metabolic process" 2 NCBITaxon:5719 "Parabasalia" 1 MONDO:0005296 "sleep apnea syndrome" 2 -MONDO:0001875 "epicondylitis" 3 +MONDO:0001875 "epicondylitis" 2 UBERON:0008343 "intestinal villus of jejunum" 1 CL:0000239 "brush border epithelial cell" 2 http://identifiers.org/hgnc/3023 "DRD2" 1 @@ -11245,7 +11222,7 @@ MONDO:0014745 "congenital myasthenic syndrome 19" 2 MONDO:0020178 "palpebral lentiginosis" 4 MONDO:0006643 "alcoholic cardiomyopathy" 2 MONDO:0008542 "tetralogy of fallot" 3 -MONDO:0044339 "lumbar disc degenerative disorder" 2 +MONDO:0044339 "lumbar disc degenerative disorder" 1 GO:0001773 "myeloid dendritic cell activation" 1 MONDO:0013780 "retinitis pigmentosa 63" 1 MONDO:0012416 "Devriendt syndrome" 1 @@ -11500,7 +11477,7 @@ UBERON:0004912 "biliary bud" 4 GO:0012506 "vesicle membrane" 1 UBERON:0034944 "zone of organ" 1 MONDO:0006883 "malignant superior sulcus neoplasm" 2 -MONDO:0004797 "mononeuritis of lower limb" 2 +MONDO:0004797 "mononeuritis of lower limb" 1 GO:0106121 "positive regulation of cobalamin metabolic process" 3 GO:0098660 "inorganic ion transmembrane transport" 1 GO:0045947 "negative regulation of translational initiation" 2 @@ -11544,7 +11521,7 @@ HP:0100737 "Abnormal hard palate morphology" 1 GO:0044147 "negative regulation of formation of structure involved in a symbiotic process" 2 MONDO:0002131 "jaw cancer" 3 GO:0010463 "mesenchymal cell proliferation" 1 -MONDO:0019499 "Turner syndrome" 10 +MONDO:0019499 "Turner syndrome" 8 CL:0002431 "CD4-positive, CD8-intermediate double-positive thymocyte" 1 MONDO:0030316 "lymphatic malformation 11" 1 UBERON:0005192 "deferent duct artery" 2 @@ -11779,7 +11756,7 @@ GO:0002658 "regulation of peripheral tolerance induction" 1 NCBITaxon:6960 "Hexapoda" 1 MONDO:0014747 "familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome" 4 http://identifiers.org/hgnc/10560 "ATXN7" 1 -MONDO:0005281 "gallbladder disorder" 3 +MONDO:0005281 "gallbladder disorder" 2 MONDO:0012686 "major affective disorder 6" 2 MONDO:0020001 "respiratory or thoracic malformation" 1 MONDO:0010907 "familial hypertryptophanemia" 1 @@ -11951,7 +11928,7 @@ MONDO:0015696 "Good syndrome" 2 MONDO:0003033 "prostate angiosarcoma" 2 MONDO:0001332 "palindromic rheumatism" 3 MONDO:0006569 "leg dermatosis" 1 -MONDO:0016482 "silver-Russell syndrome due to maternal uniparental disomy of chromosome 11" 4 +MONDO:0016482 "silver-Russell syndrome due to maternal uniparental disomy of chromosome 11" 3 CL:1000398 "endothelial cell of hepatic sinusoid" 1 MONDO:0020595 "disorder of retroperitoneum" 1 MONDO:0044202 "episodic kinesigenic dyskinesia" 1 @@ -12221,7 +12198,7 @@ CL:0000351 "trophoblast cell" 1 HP:0001510 "Growth delay" 1 MONDO:0019360 "rickettsialpox" 1 GO:0048880 "sensory system development" 1 -MONDO:0019891 "monosomy 22" 3 +MONDO:0019891 "monosomy 22" 2 NCBITaxon:3745 "Rosaceae" 1 MONDO:0018380 "idiopathic avascular necrosis" 2 MONDO:0016510 "epibulbar lipodermoid-preauricular appendage-polythelia syndrome" 1 @@ -12266,7 +12243,7 @@ MONDO:0008683 "Wilms tumor 3" 1 http://identifiers.org/hgnc/16472 "SLC45A2" 1 http://identifiers.org/hgnc/493 "ANK2" 1 MONDO:0007856 "palmoplantar keratoderma-esophageal carcinoma syndrome" 2 -MONDO:0017437 "amelia of upper limb" 2 +MONDO:0017437 "amelia of upper limb" 1 MONDO:0005124 "leprosy" 3 MONDO:0009557 "mandibuloacral dysplasia with type A lipodystrophy" 2 MONDO:0009374 "hydroxyprolinemia" 1 @@ -12350,7 +12327,7 @@ http://identifiers.org/hgnc/3393 "EPHB2" 1 MONDO:0007545 "Eosinophilopenia" 1 http://identifiers.org/hgnc/3395 "EPHB4" 1 MONDO:0002246 "perichondritis of auricle" 1 -MONDO:0005320 "tibia fracture" 3 +MONDO:0005320 "tibia fracture" 2 GO:0010562 "positive regulation of phosphorus metabolic process" 2 HP:0002027 "Abdominal pain" 2 MONDO:0001931 "pericholangitis" 1 @@ -12409,11 +12386,9 @@ MONDO:0001252 "Plummer disease" 1 MONDO:0011457 "ataxia-telangiectasia-like disorder" 5 MONDO:0008989 "citrulline transport defect" 1 UBERON:0009680 "set of upper jaw teeth" 1 -MONDO:0008068 "navicular bone, accessory" 1 MONDO:0030077 "vertebral, cardiac, renal, and limb defects syndrome 3" 1 http://identifiers.org/hgnc/13176 "IKZF1" 1 HP:0002150 "Hypercalciuria" 1 -MONDO:0013612 "Geleophysic dysplasia 2" 1 http://identifiers.org/hgnc/11604 "TBX5" 1 UBERON:0006211 "buccopharyngeal membrane" 1 NCBITaxon:11084 "Tick-borne encephalitis virus" 1 @@ -12961,6 +12936,7 @@ MONDO:0002667 "gallbladder signet ring cell adenocarcinoma" 2 CHEBI:24400 "glycoside" 1 MONDO:0044299 "myasthenic syndrome, congenital, 22" 2 NCBITaxon:447134 "Myodes" 1 +MONDO:0043195 "Rubinstein Taybi like syndrome" 1 MONDO:0010151 "tricarboxylic acid cycle, defect of" 1 MONDO:0003804 "blood protein disease" 1 UBERON:0001529 "brachiocephalic artery" 1 @@ -13131,7 +13107,7 @@ MONDO:0003563 "diffuse pulmonary fibrosis" 1 MONDO:0008319 "protoporphyria, erythropoietic, 1" 1 MONDO:0100282 "SC phocomelia syndrome" 1 MONDO:0008856 "immunodeficiency 27A" 1 -MONDO:0019913 "silver-Russell syndrome due to maternal uniparental disomy of chromosome 7" 4 +MONDO:0019913 "silver-Russell syndrome due to maternal uniparental disomy of chromosome 7" 3 MONDO:0008501 "Sturge-Weber syndrome" 3 http://identifiers.org/hgnc/1324 "C4B" 1 GO:0033008 "positive regulation of mast cell activation involved in immune response" 3 @@ -13223,10 +13199,8 @@ MONDO:0024330 "infectious otitis media" 2 CHEBI:13941 "carbamate" 1 MONDO:0004199 "vulvar keratinizing squamous cell carcinoma" 2 MONDO:0017886 "MIT family translocation renal cell carcinoma" 1 -MONDO:0020059 "gonosome number anomaly" 1 MONDO:0010737 "spondyloepiphyseal dysplasia tarda, X-linked" 2 MONDO:0009196 "ermine phenotype" 1 -MONDO:0019683 "syndactyly type 2" 2 MONDO:0400003 "skeletal fluorosis" 1 MONDO:0009402 "acrofrontofacionasal dysostosis 2" 3 http://identifiers.org/hgnc/26038 "TMEM127" 1 @@ -13370,7 +13344,7 @@ MONDO:0004217 "childhood brain germinoma" 2 HP:0000517 "Abnormality of the lens" 1 CHEBI:38182 "monohydroxypyridine" 1 UBERON:0022299 "upper eyelid nerve" 1 -MONDO:0001557 "olecranon bursitis" 3 +MONDO:0001557 "olecranon bursitis" 2 CHEBI:33721 "carbohydrate acid anion" 1 MONDO:0012387 "osteosclerosis-ichthyosis-premature ovarian failure syndrome" 2 MONDO:0100204 "parainfluenza virus type 2 infectious disease" 1 @@ -13397,7 +13371,7 @@ UBERON:0034909 "intermaxillary suture" 2 NCBITaxon:41827 "Culicoidea" 1 MONDO:0001758 "paranasal sinus sarcoma" 2 MONDO:0005871 "Nematoda infectious disease" 1 -MONDO:0002337 "intra-abdominal hemangioma" 2 +MONDO:0002337 "intra-abdominal hemangioma" 1 GO:0046890 "regulation of lipid biosynthetic process" 2 NCBITaxon:181550 "Trichomonadidae" 1 MONDO:0003157 "disappearing bone disease" 1 @@ -13572,7 +13546,6 @@ GO:0019229 "regulation of vasoconstriction" 2 MONDO:0044347 "erythrocyte disorder" 1 MONDO:0018725 "corpus callosum agenesis-macrocephaly-hypertelorism syndrome" 5 http://identifiers.org/hgnc/746 "ASL" 1 -MONDO:0008326 "pseudocholinesterase, increase in plasma level of" 1 MONDO:0024685 "Philadelphia-positive myelogenous leukemia" 1 MONDO:0006848 "marasmus" 1 GO:0030295 "protein kinase activator activity" 2 @@ -13638,7 +13611,7 @@ UBERON:0022292 "splenic arteriole" 2 MONDO:0014301 "dowling-degos disease 3" 1 NCBITaxon:6448 "Gastropoda" 1 MONDO:0002352 "larynx cancer" 2 -MONDO:0024311 "cancer affecting bone of limb skeleton" 2 +MONDO:0024311 "cancer affecting bone of limb skeleton" 1 MONDO:0003379 "rectum leiomyosarcoma" 2 MONDO:0017088 "isolated amyelia" 1 UBERON:0010323 "cranial skeletal system" 1 @@ -13733,7 +13706,7 @@ http://identifiers.org/hgnc/29882 "ISCU" 1 MONDO:0020687 "supratentorial ependymal tumor" 1 GO:0002866 "positive regulation of acute inflammatory response to antigenic stimulus" 3 MONDO:0002604 "pericytic neoplasm" 1 -MONDO:0001459 "radial neuropathy" 3 +MONDO:0001459 "radial neuropathy" 2 MONDO:0011534 "Charcot-Marie-Tooth disease type 4G" 2 GO:0005747 "mitochondrial respiratory chain complex I" 2 MONDO:0012826 "scoliosis, isolated, susceptibility to, 4" 1 @@ -14124,7 +14097,6 @@ NCIT:C36285 "Endocrine System Finding" 1 UBERON:0036343 "wall of gallbladder" 1 MONDO:0010288 "adrenomyodystrophy" 1 CHEBI:33292 "fuel" 1 -MONDO:0008616 "twinning due to superfetation" 1 MONDO:0019740 "acquired thrombotic thrombocytopenic purpura" 2 MONDO:0009279 "triple-A syndrome" 6 MONDO:0018904 "primary membranoproliferative glomerulonephritis" 2 @@ -14389,7 +14361,7 @@ MONDO:0019800 "chronic hepatic porphyria" 1 MONDO:0009086 "deafness-small bowel diverticulosis-neuropathy syndrome" 1 GO:0005929 "cilium" 2 MONDO:0022795 "deficiency of coenzyme q cytochrome c reductase" 1 -MONDO:0005240 "kidney disorder" 2 +MONDO:0005240 "kidney disorder" 1 MONDO:0007948 "marfanoid hypermobility syndrome" 1 UBERON:0010336 "mandibular process mesenchyme from neural crest" 2 MONDO:0027048 "deafness, Y-linked 2" 1 @@ -14867,6 +14839,7 @@ MONDO:0009355 "Hooft disease" 1 MONDO:0009280 "monosodium glutamate sensitivity" 1 MONDO:0005097 "squamous cell lung carcinoma" 2 UBERON:0010212 "laryngeal apparatus" 2 +MONDO:0100487 "TPM4-related platelet disorder" 2 http://identifiers.org/hgnc/27962 "STING1" 1 UBERON:0005397 "brain arachnoid mater" 2 MONDO:0009404 "hypertelorism, microtia, facial clefting syndrome" 9 @@ -14951,7 +14924,7 @@ MONDO:0010556 "X-linked chondrodysplasia punctata" 3 MONDO:0015469 "craniosynostosis" 3 GO:0019359 "nicotinamide nucleotide biosynthetic process" 2 CHR:9606-chrXq28 "Xq28 (Human)" 1 -MONDO:0018007 "mosaic genome-wide paternal uniparental disomy" 2 +MONDO:0018007 "mosaic genome-wide paternal uniparental disomy" 1 CL:0002489 "double negative thymocyte" 1 CHEBI:76725 "EC 1.* (oxidoreductase) inhibitor" 1 http://identifiers.org/hgnc/8740 "CHMP1A" 1 @@ -15034,7 +15007,7 @@ UBERON:0002007 "medulla of lymph node" 1 MONDO:0014543 "congenital myasthenic syndrome 14" 2 ENVO:09200012 "temperature of soil" 1 NCBITaxon:30005 "Anoplura" 1 -MONDO:0014708 "ring chromosome 14" 5 +MONDO:0014708 "ring chromosome 14" 4 MONDO:0033821 "fungal keratitis" 2 NCBITaxon:31244 "Schistosomatoidea" 1 http://identifiers.org/hgnc/8124 "OGDH" 1 @@ -15303,7 +15276,7 @@ UBERON:0008424 "inguinal mammary gland" 2 MONDO:0001053 "acute infection of pinna" 1 http://identifiers.org/hgnc/11540 "TAF6" 1 GO:0006468 "protein phosphorylation" 2 -MONDO:0016882 "partial deletion of chromosome 20" 3 +MONDO:0016882 "partial deletion of chromosome 20" 2 MONDO:0000355 "Ullrich congenital muscular dystrophy" 2 http://identifiers.org/hgnc/12310 "TRIP4" 1 http://identifiers.org/hgnc/7716 "NDUFV1" 1 @@ -15414,7 +15387,7 @@ UBERON:0001839 "bony labyrinth" 1 http://identifiers.org/hgnc/12680 "VEGFA" 1 http://identifiers.org/hgnc/12682 "VEGFC" 1 UBERON:0005049 "mucosa of infundibulum of uterine tube" 1 -MONDO:0015961 "genetic head and neck malformation" 2 +MONDO:0015961 "genetic head and neck malformation" 1 CHEBI:33575 "carboxylic acid" 3 http://identifiers.org/hgnc/23505 "BMS1" 1 MONDO:0033640 "vitamin D-dependent rickets, type 3" 2 @@ -15487,7 +15460,7 @@ MONDO:0009559 "mandibulofacial dysostosis with mental deficiency" 1 CL:1001590 "epididymis glandular cell" 1 MONDO:0002114 "pancreas lymphoma" 2 http://identifiers.org/hgnc/1677 "CD247" 1 -MONDO:0006894 "patellofemoral pain syndrome" 2 +MONDO:0006894 "patellofemoral pain syndrome" 1 MONDO:0016276 "high-grade neuroendocrine carcinoma of the cervix uteri" 1 MONDO:0011830 "lissencephaly due to LIS1 mutation" 1 MONDO:0008800 "microphthalmia with limb anomalies" 2 @@ -15729,7 +15702,6 @@ MONDO:0022205 "pustular psoriasis" 1 MONDO:0021175 "herpetic vulvovaginitis" 3 NCBITaxon:121759 "Paracoccidioides brasiliensis" 1 MONDO:0016708 "embryonal tumor of neuroepithelial tissue" 2 -MONDO:0044988 "hip region disorder" 1 GO:0004970 "ionotropic glutamate receptor activity" 2 http://identifiers.org/hgnc/1321 "TIMMDC1" 1 MONDO:0019272 "hereditary palmoplantar keratoderma" 3 @@ -15921,7 +15893,6 @@ MONDO:0005701 "chlamydia trachomatis infectious disease" 2 MONDO:0001892 "spinal cord lymphoma" 2 http://identifiers.org/hgnc/11257 "SPR" 1 NCBITaxon:693660 "unclassified Primate lentivirus group" 1 -MONDO:0009125 "dopamine beta-hydroxylase, plasma, thermolability of" 1 CHEBI:27207 "univalent carboacyl group" 1 MONDO:0022825 "congenital cystic eye" 1 HP:0001384 "Abnormal hip joint morphology" 3 @@ -15940,7 +15911,6 @@ MONDO:0020674 "vascular insufficiency disorder" 1 http://identifiers.org/hgnc/1142 "BTNL2" 1 MONDO:0023204 "Fukuda-Miyanomae-Nakata syndrome" 2 MONDO:0021143 "melanocytic neoplasm" 2 -MONDO:0016999 "X chromosome number anomaly" 1 MONDO:0010670 "X-linked intellectual disability-spastic quadriparesis syndrome" 1 MONDO:0022800 "type 2 collagenopathy" 2 MONDO:0032820 "neurodevelopmental disorder with structural brain anomalies and dysmorphic facies" 2 @@ -16178,8 +16148,8 @@ NCBITaxon:203691 "Spirochaetes" 1 MONDO:0001059 "gastric lymphoma" 2 MONDO:0002649 "scrotum Paget disease" 2 UBERON:0001094 "sacral vertebra" 4 -MONDO:0016880 "partial deletion of chromosome 18" 3 -MONDO:0016881 "partial deletion of chromosome 19" 3 +MONDO:0016880 "partial deletion of chromosome 18" 2 +MONDO:0016881 "partial deletion of chromosome 19" 2 http://identifiers.org/hgnc/30260 "PNPO" 1 MONDO:0000928 "eyelid melanoma" 3 MONDO:0000244 "endothrix infectious disease" 2 @@ -16259,7 +16229,7 @@ GO:1903131 "mononuclear cell differentiation" 1 MONDO:0021718 "polyneuritis" 2 UBERON:0000489 "cavitated compound organ" 1 MONDO:0022620 "CD4 deficiency" 1 -MONDO:0016878 "partial deletion of chromosome 16" 3 +MONDO:0016878 "partial deletion of chromosome 16" 2 NCBITaxon:118968 "Coxiellaceae" 1 MONDO:0014302 "hereditary spastic paraplegia 62" 1 MONDO:0030037 "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures" 6 @@ -16345,7 +16315,6 @@ MONDO:0007098 "ACys amyloidosis" 1 http://identifiers.org/hgnc/9726 "PYGM" 1 MONDO:0044137 "vitreous body disorder" 1 UBERON:0001285 "nephron" 1 -MONDO:0003778 "primary immunodeficiency disease" 1 GO:0002883 "regulation of hypersensitivity" 1 http://identifiers.org/hgnc/2699 "DDX3Y" 1 MONDO:0010154 "trigonocephaly-bifid nose-acral anomalies syndrome" 1 @@ -16391,7 +16360,6 @@ http://identifiers.org/hgnc/20001 "PCSK9" 1 ECTO:9000409 "exposure to salt" 1 HP:0007773 "Vitreoretinopathy" 1 NCBITaxon:2682482 "Mastigamoebida" 1 -http://identifiers.org/hgnc/12910 "MKRN3-AS1" 1 MONDO:0018059 "meningococcal meningitis" 1 MONDO:0020791 "corneal dystrophy, Meesmann, 1" 1 UBERON:0036217 "coelomic fluid" 1 @@ -16415,7 +16383,7 @@ http://identifiers.org/hgnc/1382 "CA8" 1 MONDO:0019255 "sphingolipidosis" 1 MONDO:0012105 "granulomatosis with polyangiitis" 4 MONDO:0007931 "vitelliform macular dystrophy 2" 1 -MONDO:0019926 "X small rings" 4 +MONDO:0019926 "X small rings" 3 GO:0010243 "response to organonitrogen compound" 2 UBERON:0007602 "stratified columnar epithelium" 2 MONDO:0100011 "tendinosis" 1 @@ -16435,7 +16403,7 @@ GO:0006879 "cellular iron ion homeostasis" 2 MONDO:0012456 "congenital primary aphakia" 2 MONDO:0018261 "Nevada syndrome" 1 MONDO:0021324 "malignant neoplasm of abdominal esophagus" 1 -MONDO:0016879 "partial deletion of chromosome 17" 3 +MONDO:0016879 "partial deletion of chromosome 17" 2 MONDO:0044925 "oral cavity carcinoma" 3 http://identifiers.org/hgnc/7325 "MSH2" 1 MONDO:0002682 "cerebral ventricle cancer" 1 @@ -16538,7 +16506,7 @@ CHR:9606-chr2p21 "2p21 (Human)" 1 MONDO:0008306 "ABri amyloidosis" 2 GO:1904000 "positive regulation of eating behavior" 2 UBERON:0012464 "cloacal vent" 1 -MONDO:0016875 "partial deletion of chromosome 10" 3 +MONDO:0016875 "partial deletion of chromosome 10" 2 UBERON:0003430 "neck nerve" 1 UBERON:0002075 "viscus" 1 MONDO:0032614 "epidermodysplasia verruciformis, susceptibility to, 2" 1 @@ -16590,7 +16558,7 @@ MONDO:0017516 "brachydactyly of fingers, bilateral" 1 MONDO:0010381 "Tn polyagglutination syndrome" 1 GO:1900426 "positive regulation of defense response to bacterium" 5 MONDO:0011677 "Megarbane syndrome" 1 -MONDO:0016876 "partial deletion of chromosome 11" 3 +MONDO:0016876 "partial deletion of chromosome 11" 2 MONDO:0003353 "heart leiomyosarcoma" 2 MONDO:0017568 "Prata-Liberal-Goncalves syndrome" 1 http://identifiers.org/hgnc/10889 "SIX3" 1 @@ -16927,6 +16895,7 @@ MONDO:0012436 "neonatal diabetes mellitus with congenital hypothyroidism" 3 FOODON:00001916 "grain based alcoholic beverage"@en 1 http://identifiers.org/hgnc/6502 "RPSA" 1 CL:0000117 "CNS neuron (sensu Vertebrata)" 1 +MONDO:0100491 "generalized pustular psoriasis" 1 http://identifiers.org/hgnc/17192 "TIRAP" 1 GO:0048873 "homeostasis of number of cells within a tissue" 2 GO:0051604 "protein maturation" 1 @@ -16939,7 +16908,7 @@ http://identifiers.org/hgnc/18062 "GPT2" 1 MONDO:0007599 "factor 9 and Factor XI, combined deficiency of" 1 MONDO:0006919 "potassium deficiency" 1 UBERON:0001684 "mandible" 2 -MONDO:0019928 "48,XXXY syndrome" 9 +MONDO:0019928 "48,XXXY syndrome" 8 PO:0030108 "berry fruit" 1 NCBITaxon:11216 "Human respirovirus 3" 1 MONDO:0009786 "optic atrophy 6" 1 @@ -16980,7 +16949,7 @@ MONDO:0014074 "Charcot-Marie-Tooth disease dominant intermediate F" 1 MONDO:0006283 "lymphoepithelioma-like lung carcinoma" 1 UBERON:0001535 "vertebral artery" 1 MONDO:0005659 "atrophic rhinitis" 1 -MONDO:0015430 "ring chromosome 1" 3 +MONDO:0015430 "ring chromosome 1" 2 MONDO:0011109 "multiple epiphyseal dysplasia, Lowry type" 1 NCBITaxon:36330 "Plasmodium ovale" 1 MONDO:0033651 "mitochondrial complex 4 deficiency, nuclear type 16" 1 @@ -17008,7 +16977,7 @@ UBERON:0001772 "corneal epithelium" 1 http://identifiers.org/hgnc/6257 "KCNJ11" 1 http://identifiers.org/hgnc/2220 "COLEC10" 1 MONDO:0016848 "juvenile temporal arteritis" 1 -MONDO:0018957 "pudendal neuralgia" 3 +MONDO:0018957 "pudendal neuralgia" 2 GO:0006821 "chloride transport" 1 http://identifiers.org/hgnc/20347 "VIPAS39" 1 NCBITaxon:55194 "Malassezia furfur" 1 @@ -17275,7 +17244,7 @@ UBERON:0003922 "pancreatic epithelial bud" 3 MONDO:0019934 "polyploidy" 1 MONDO:0030293 "angioedema, hereditary, 5" 1 MONDO:0000408 "fetal alcohol spectrum disorder" 3 -MONDO:0016911 "partial deletion of the long arm of chromosome 13" 2 +MONDO:0016911 "partial deletion of the long arm of chromosome 13" 1 GO:1903793 "positive regulation of anion transport" 2 http://identifiers.org/hgnc/30764 "TRAIP" 1 MONDO:0005634 "acute hemorrhagic conjunctivitis" 3 @@ -17394,7 +17363,7 @@ GO:1904226 "regulation of glycogen synthase activity, transferring glucose-1-pho GO:0002824 "positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains" 2 MONDO:0008342 "pubic bone dysplasia" 1 MONDO:0012462 "autosomal recessive frontotemporal pachygyria" 1 -MONDO:0002586 "thymus cancer" 4 +MONDO:0002586 "thymus cancer" 3 MONDO:0008666 "volvulus of midgut" 1 UBERON:0000400 "jejunal epithelium" 1 GO:0042092 "type 2 immune response" 1 @@ -17607,7 +17576,6 @@ NCBITaxon:9922 "Capra" 1 ECTO:0000738 "exposure to ligand" 1 MONDO:0007916 "primary intestinal lymphangiectasia" 1 CHEBI:37581 "gamma-lactone" 1 -MONDO:0020053 "total autosomal monosomy" 1 MONDO:0002641 "subclavian artery aneurysm" 1 GO:0043603 "cellular amide metabolic process" 1 MONDO:0013932 "peroxisome biogenesis disorder 5A (Zellweger)" 1 @@ -17694,7 +17662,7 @@ GO:0061178 "regulation of insulin secretion involved in cellular response to glu NCBITaxon:7162 "Ochlerotatus triseriatus" 1 MONDO:0004043 "ureter inverted papilloma" 2 UBERON:0005147 "metanephric renal vesicle" 3 -MONDO:0016853 "ring chromosome Y" 3 +MONDO:0016853 "ring chromosome Y" 2 NCBITaxon:2082223 "Panagrolaimomorpha" 1 MONDO:0011367 "Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia" 1 MONDO:0030921 "intellectual disability, autosomal dominant 55, with seizures" 1 @@ -17827,7 +17795,7 @@ MONDO:0013228 "spondylo-megaepiphyseal-metaphyseal dysplasia" 2 http://identifiers.org/hgnc/11536 "TAF2" 1 MONDO:0007378 "posterior polymorphous corneal dystrophy 1" 1 MONDO:0000628 "central nervous system organ benign neoplasm" 2 -MONDO:0016913 "partial deletion of the long arm of chromosome 15" 2 +MONDO:0016913 "partial deletion of the long arm of chromosome 15" 1 http://identifiers.org/hgnc/11094 "SNAI2" 1 MONDO:0014118 "congenital neutropenia-myelofibrosis-nephromegaly syndrome" 1 MONDO:0030397 "portal hypertension, noncirrhotic, 2" 1 @@ -17865,7 +17833,7 @@ MONDO:0020391 "pulmonary artery coming from the aorta" 1 UBERON:0000990 "reproductive system" 2 MONDO:0054838 "cardiomyopathy, familial hypertrophic 27" 1 MONDO:0001217 "pseudomembranous conjunctivitis" 2 -MONDO:0016912 "partial deletion of the long arm of chromosome 14" 2 +MONDO:0016912 "partial deletion of the long arm of chromosome 14" 1 MONDO:0016914 "partial deletion of the long arm of chromosome 16" 1 MONDO:0002797 "childhood medulloblastoma" 2 MONDO:0019898 "distal monosomy 14q" 1 @@ -17878,7 +17846,7 @@ MONDO:0002975 "malignant breast melanoma" 4 MONDO:0009766 "oculocerebral hypopigmentation syndrome of Preus" 1 UBERON:0004314 "distal phalanx of manual digit 5" 3 GO:0055081 "anion homeostasis" 1 -MONDO:0020860 "faucial diphtheria" 2 +MONDO:0020860 "faucial diphtheria" 1 MONDO:0011797 "infantile-onset ascending hereditary spastic paralysis" 1 MONDO:0013054 "microcephaly, growth retardation, cataract, hearing loss, and unusual appearance" 1 MONDO:0016910 "partial deletion of the long arm of chromosome 11" 1 @@ -17986,7 +17954,7 @@ UBERON:0000358 "blastocyst" 1 MONDO:0003982 "bilateral breast carcinoma" 1 GO:0009895 "negative regulation of catabolic process" 2 MONDO:0009376 "carbamoyl phosphate synthetase I deficiency disease" 1 -MONDO:0016919 "partial deletion of the long arm of chromosome 21" 2 +MONDO:0016919 "partial deletion of the long arm of chromosome 21" 1 UBERON:0001222 "right ureter" 1 MONDO:0004479 "malignant childhood germ cell neoplasm" 3 NCIT:C35920 "Cribriform Pattern" 1 @@ -18127,7 +18095,6 @@ CL:0000488 "visible light photoreceptor cell" 1 MONDO:0001673 "diarrheal disease" 1 UBERON:0012488 "muscle layer of duodenum" 1 MONDO:0017672 "focal palmoplantar keratoderma" 1 -MONDO:0007823 "insulin receptors, familial increase 1N" 1 PATO:0000586 "increased size" 2 MONDO:0003808 "mediastinal extraskeletal osteosarcoma" 2 MONDO:0031332 "Glanzmann thrombasthenia 1" 1 @@ -18181,7 +18148,7 @@ MONDO:0012505 "pigmented nodular adrenocortical disease, primary, 2" 1 UBERON:0006555 "excretory tube" 1 MONDO:0010263 "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome" 7 UBERON:0034878 "prechordal mesoderm" 1 -MONDO:0043277 "mosaic trisomy 6" 3 +MONDO:0043277 "mosaic trisomy 6" 2 MONDO:0008824 "fetal akinesia deformation sequence" 4 MONDO:0021655 "secondary catabolic mucinosis of skin" 1 MONDO:0011031 "autosomal dominant nonsyndromic hearing loss 10" 1 @@ -18212,7 +18179,6 @@ MONDO:0021178 "injury" 1 MONDO:0003150 "male reproductive system disorder" 1 UBERON:0001778 "ciliary epithelium" 2 http://identifiers.org/hgnc/7159 "MMP13" 1 -MONDO:0020745 "autosomal dominant cardiac arrhythmia (Kuhn)" 2 MONDO:0006791 "hyperemesis gravidarum" 1 MONDO:0020460 "acquired von willebrand syndrome" 3 GO:0002674 "negative regulation of acute inflammatory response" 2 @@ -18414,7 +18380,6 @@ UBERON:0007425 "decussation of diencephalon" 1 MONDO:0013743 "autosomal systemic lupus erythematosus type 16" 4 UBERON:2002260 "premaxillary-maxillary joint" 1 MONDO:0020007 "absence of the pulmonary artery" 1 -MONDO:0007331 "cleft chin" 1 UBERON:0015783 "smooth muscle layer in fatty layer of subcutaneous tissue" 1 MONDO:0020749 "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1" 1 MONDO:0700011 "chromosome 4 disorder" 1 @@ -18620,10 +18585,9 @@ NCBITaxon:170 "Leptospiraceae" 1 http://identifiers.org/hgnc/10778 "SFRP4" 1 MONDO:0022876 "Cortes Lacassie syndrome" 1 PATO:0001402 "multipotent" 1 -MONDO:0008608 "Down syndrome" 2 +MONDO:0008608 "Down syndrome" 1 CHEBI:76712 "EC 4.2.* (C-O lyase) inhibitor" 1 UBERON:0001044 "saliva-secreting gland" 1 -MONDO:0008432 "ketone compounds, ability to smell" 1 MONDO:0004214 "ovarian endometrioid cystadenofibroma" 2 MONDO:0001748 "maxillary sinus carcinoma" 4 CHEBI:23334 "cobalamins" 2 @@ -18745,7 +18709,7 @@ MONDO:0011373 "urinary tract infections, recurrent, susceptibility to" 1 UBERON:0012241 "male urethral meatus" 2 NCBITaxon:138950 "Enterovirus C" 1 NCBITaxon:138951 "Enterovirus D" 1 -MONDO:0010843 "dyslexia, susceptibility to, 2" 2 +MONDO:0010843 "dyslexia, susceptibility to, 2" 1 MONDO:0020522 "Ehlers-Danlos syndrome type 7B" 1 PATO:0001374 "ploidy" 1 CHR:9606-chr16p1 "16p1 (Human)" 1 @@ -19113,6 +19077,7 @@ CHEBI:24873 "iron molecular entity" 1 MONDO:0018162 "neurometabolic disorder due to serine deficiency" 3 MONDO:0023581 "Kuster syndrome" 3 http://identifiers.org/hgnc/7473 "MTRR" 1 +MONDO:0700130 "partial trisomy 21" 2 http://identifiers.org/hgnc/28052 "XPNPEP3" 1 MONDO:0024935 "foot rot" 1 CL:1000428 "stem cell of epidermis" 1 @@ -19203,7 +19168,6 @@ http://identifiers.org/hgnc/11030 "SLC4A4" 1 MONDO:0016695 "oligodendroglioma" 2 MONDO:0015298 "pellucid marginal degeneration" 1 PO:0025233 "portion of embryo plant tissue" 2 -MONDO:0015153 "autosomal monosomy" 1 MONDO:0013719 "cranioectodermal dysplasia 4" 1 MONDO:0007114 "angel-shaped phalango-epiphyseal dysplasia" 1 http://identifiers.org/hgnc/5414 "IFITM3" 1 @@ -19221,7 +19185,6 @@ GO:0002764 "immune response-regulating signaling pathway" 2 http://identifiers.org/hgnc/31648 "MIR96" 1 CHEBI:79314 "flame retardant" 1 MONDO:0002133 "chronic rheumatic pericarditis" 1 -MONDO:0008677 "widow's peak" 1 MONDO:0008710 "RAB23-related Carpenter syndrome" 1 http://identifiers.org/hgnc/7788 "NFIX" 1 MONDO:0006655 "aortic valve prolapse" 1 @@ -19314,7 +19277,7 @@ CL:1000436 "epithelial cell of lacrimal sac" 2 MONDO:0001507 "viral labyrinthitis" 2 GO:0014059 "regulation of dopamine secretion" 2 MONDO:0012889 "sarcoidosis, susceptibility to, 3" 1 -MONDO:0008207 "chondromalacia patellae" 3 +MONDO:0008207 "chondromalacia patellae" 2 MONDO:0020443 "absence of innominate vein" 1 GO:0045930 "negative regulation of mitotic cell cycle" 2 CHEBI:48154 "sulfur oxide" 2 @@ -19349,7 +19312,7 @@ MONDO:0100444 "RLBP1-related retinopathy" 1 MONDO:0045018 "creatine biosynthetic process disease" 1 MONDO:0012888 "sarcoidosis, susceptibility to, 2" 1 GO:0046889 "positive regulation of lipid biosynthetic process" 3 -MONDO:0020298 "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15" 4 +MONDO:0020298 "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15" 3 NCBITaxon:4751 "Fungi" 1 MONDO:0001685 "chronic follicular conjunctivitis" 1 http://identifiers.org/hgnc/756 "ASPA" 1 @@ -19424,7 +19387,7 @@ MONDO:0004222 "ovarian clear cell cystadenocarcinoma" 2 FOODON:03302116 "cow milk (liquid)"@en 2 GO:1990748 "cellular detoxification" 2 GO:1905951 "mitochondrion DNA recombination" 2 -MONDO:0015441 "ring chromosome 7" 3 +MONDO:0015441 "ring chromosome 7" 2 MONDO:0009586 "mesangial sclerosis, diffuse renal, with ocular abnormalities" 1 UBERON:0000107 "cleavage stage" 2 http://identifiers.org/hgnc/8021 "NT5E" 1 @@ -19461,7 +19424,7 @@ MONDO:0010462 "syndromic X-linked intellectual disability Chudley-Schwartz type" MONDO:0011313 "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1" 1 CL:0001023 "Kit-positive, CD34-positive common myeloid progenitor" 2 GO:1903037 "regulation of leukocyte cell-cell adhesion" 1 -MONDO:0015440 "ring chromosome 6" 3 +MONDO:0015440 "ring chromosome 6" 2 UBERON:0003216 "hard palate" 1 CHEBI:25513 "neutral glycosphingolipid" 1 MONDO:0018923 "22q11.2 deletion syndrome" 11 @@ -19631,7 +19594,7 @@ MONDO:0006638 "acute retinal necrosis syndrome" 1 MONDO:0003912 "malignant ciliary body melanoma" 2 NCBITaxon:2842407 "Alpharhabdovirinae" 1 MONDO:0012524 "corticosterone methyloxidase type 2 deficiency" 2 -MONDO:0015439 "ring chromosome 4" 3 +MONDO:0015439 "ring chromosome 4" 2 CHEBI:60832 "tubulin modulator" 1 MONDO:0019124 "microscopic polyangiitis" 3 UBERON:0005408 "circumventricular organ" 1 @@ -19912,7 +19875,6 @@ UBERON:0000085 "morula" 1 MONDO:0013153 "inflammatory bowel disease 28" 1 MONDO:0006365 "Peutz-Jeghers polyp" 1 MONDO:0008101 "familial supernumerary nipples" 2 -MONDO:0008110 "ocular dominance" 1 FOODON:00001293 "shellfish food product"@en 2 GO:0046888 "negative regulation of hormone secretion" 4 MONDO:0009955 "rapadilino syndrome" 6 @@ -20124,7 +20086,7 @@ MONDO:0002444 "melancholia" 1 MONDO:0013445 "complement component 9 deficiency" 2 CHEBI:4551 "digoxin" 2 PATO:0001190 "juvenile" 1 -MONDO:0005322 "ulna fracture" 3 +MONDO:0005322 "ulna fracture" 2 UBERON:0001442 "skeleton of manus" 1 MONDO:0013132 "hereditary spastic paraplegia 36" 1 MONDO:0019121 "pneumocystosis" 4 @@ -20160,7 +20122,6 @@ MONDO:0018816 "isolated neonatal sclerosing cholangitis" 2 http://identifiers.org/hgnc/18233 "BANK1" 1 GO:1903561 "extracellular vesicle" 2 CL:0002242 "nucleate cell" 1 -MONDO:0020054 "partial autosomal monosomy" 1 UBERON:0013697 "exocrine pancreas epithelium" 1 NCBITaxon:33090 "Viridiplantae" 1 MONDO:0015646 "orgasm-induced seizures" 1 @@ -20296,7 +20257,6 @@ MONDO:0029134 "severe combined immunodeficiency due to CARMIL2 deficiency" 3 MONDO:0020373 "early-onset anterior polar cataract" 1 MONDO:0012502 "normophosphatemic familial tumoral calcinosis" 1 MONDO:0013142 "neuropathy, hereditary sensory and autonomic, type 2B" 1 -MONDO:0007591 "facial hypertrichosis" 1 MONDO:0016455 "virus-associated trichodysplasia spinulosa" 2 GO:0042866 "pyruvate biosynthetic process" 2 MONDO:0003911 "ciliary body mixed cell melanoma" 2 @@ -20560,7 +20520,7 @@ http://identifiers.org/hgnc/6442 "KRT5" 1 http://identifiers.org/hgnc/5172 "HR" 1 MONDO:0021682 "viral sexually transmitted disease" 2 MONDO:0040501 "ehlers-danlos syndrome, arthrochalasia type, 2" 1 -MONDO:0019923 "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11" 4 +MONDO:0019923 "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11" 3 NCBITaxon:5765 "Vahlkampfiidae" 1 GO:0005179 "hormone activity" 1 http://identifiers.org/hgnc/7728 "NEDD4L" 1 @@ -20966,7 +20926,7 @@ MONDO:0014750 "primary ciliary dyskinesia 33" 1 GO:0051355 "proprioception involved in equilibrioception" 1 GO:0099111 "microtubule-based transport" 2 NCBITaxon:485 "Neisseria gonorrhoeae" 1 -MONDO:0019915 "maternal uniparental disomy of chromosome 14" 4 +MONDO:0019915 "maternal uniparental disomy of chromosome 14" 3 MONDO:0030258 "pontocerebellar hypoplasia, type 14" 1 CHEBI:77746 "human metabolite" 1 UBERON:0012469 "external anal region" 1 @@ -20980,7 +20940,7 @@ HP:0100496 "Abnormality of the vitamin B3 metabolism" 1 UBERON:0003591 "lobar bronchus connective tissue" 2 MONDO:0012370 "autosomal recessive nonsyndromic hearing loss 51" 1 CHEBI:60466 "peptide zwitterion" 1 -MONDO:0019916 "maternal uniparental disomy of chromosome 16" 4 +MONDO:0019916 "maternal uniparental disomy of chromosome 16" 3 MONDO:0043765 "presbycusis" 1 MONDO:0016226 "specific language disorder" 1 UBERON:0003562 "midbrain dura mater" 2 @@ -21175,7 +21135,7 @@ MONDO:0009781 "Onychotrichodysplasia and neutropenia" 1 MONDO:0002410 "pyeloureteritis cystica" 1 MONDO:0008619 "ulna metaphyseal dysplasia syndrome" 1 MONDO:0005212 "rhabdomyosarcoma" 3 -MONDO:0004077 "lumbosacral lipoma" 3 +MONDO:0004077 "lumbosacral lipoma" 2 MONDO:0020539 "extragonadal non-dysgerminomatous germ cell tumor" 2 ENVO:00000300 "scrubland area" 1 UBERON:0013126 "vein of abdomen" 2 @@ -21228,7 +21188,7 @@ MONDO:0004720 "variola minor infection" 1 GO:0006396 "RNA processing" 1 MONDO:0001073 "idiopathic progressive polyneuropathy" 2 CHEBI:38418 "1,3-thiazoles" 1 -MONDO:0044753 "lumbar spinal stenosis" 2 +MONDO:0044753 "lumbar spinal stenosis" 1 GO:0001960 "negative regulation of cytokine-mediated signaling pathway" 3 GO:2001258 "negative regulation of cation channel activity" 3 MONDO:0014470 "autosomal dominant nonsyndromic hearing loss 65" 1 @@ -21336,8 +21296,6 @@ MONDO:0016522 "Kousseff syndrome" 1 GO:1901190 "regulation of formation of translation initiation ternary complex" 1 http://identifiers.org/hgnc/18127 "TUBGCP6" 1 MONDO:0010308 "thrombocytopenia, X-linked, with or without dyserythropoietic anemia" 1 -MONDO:0020060 "gonosome structural anomaly" 1 -MONDO:0013586 "Chitotriosidase deficiency" 1 MONDO:0006470 "tonsillar squamous cell carcinoma" 1 MONDO:0020454 "congenital complete agenesis of pericardium" 1 MONDO:0014954 "Ehlers-Danlos syndrome, periodontal type 2" 1 @@ -21385,11 +21343,10 @@ MONDO:0016619 "autosomal recessive hypohidrotic ectodermal dysplasia" 2 UBERON:0003607 "forelimb long bone" 2 ECTO:0000750 "exposure to biomarker" 1 UBERON:0035039 "rectal artery" 1 -MONDO:0000961 "endobronchial lipoma" 5 +MONDO:0000961 "endobronchial lipoma" 4 MONDO:0032599 "immunodeficiency 15a" 1 MONDO:0015275 "partial atrioventricular canal" 1 http://identifiers.org/hgnc/2228 "COMT" 1 -MONDO:0008791 "isolated anencephaly/exencephaly" 5 MONDO:0020800 "demyelinating disease of central nervous system" 1 MONDO:0005497 "bone development disease" 2 MONDO:0032882 "Heyn-Sproul-Jackson syndrome" 1 @@ -21397,7 +21354,7 @@ GO:0006706 "steroid catabolic process" 3 MONDO:0001025 "seminal vesicle chronic gonorrhea" 1 MONDO:0000172 "muscular dystrophy-dystroglycanopathy, type B" 2 http://identifiers.org/hgnc/11817 "TIMM8A" 1 -MONDO:0019918 "maternal uniparental disomy of chromosome 21" 3 +MONDO:0019918 "maternal uniparental disomy of chromosome 21" 2 GO:0046146 "tetrahydrobiopterin metabolic process" 2 MONDO:0000171 "muscular dystrophy-dystroglycanopathy, type A" 11 MONDO:0001398 "ureter benign neoplasm" 2 @@ -21437,7 +21394,7 @@ UBERON:0002028 "hindbrain" 2 GO:0045766 "positive regulation of angiogenesis" 2 GO:0042423 "catecholamine biosynthetic process" 3 MONDO:0009573 "megaepiphyseal dwarfism" 1 -MONDO:0019917 "maternal uniparental disomy of chromosome 20" 3 +MONDO:0019917 "maternal uniparental disomy of chromosome 20" 2 HP:0030875 "Abnormality of pulmonary circulation" 2 GO:1901738 "regulation of vitamin A metabolic process" 2 CHEBI:79020 "alpha,beta-unsaturated monocarboxylic acid" 1 @@ -21457,7 +21414,7 @@ MONDO:0004571 "intestinal impaction" 1 MONDO:0008505 "surface antigen, glycoprotein 75" 1 HP:0031653 "Abnormal heart valve physiology" 1 CL:0008009 "transversely striated visceral muscle cell"@en 1 -MONDO:0022177 "chromosome 13q trisomy" 1 +MONDO:0022177 "chromosome 13q trisomy" 2 MONDO:0017264 "syndromic recessive X-linked ichthyosis" 2 MONDO:0018881 "myelodysplastic syndrome" 2 UBERON:0004572 "arterial system" 1 @@ -21465,7 +21422,7 @@ http://identifiers.org/hgnc/1058 "BLM" 1 MONDO:0018303 "generalized isolated dystonia" 2 MONDO:0015856 "syndromic breast hypoplasia/aplasia" 1 GO:0045275 "respiratory chain complex III" 4 -MONDO:0019919 "maternal uniparental disomy of chromosome 22" 3 +MONDO:0019919 "maternal uniparental disomy of chromosome 22" 2 HP:0000174 "Abnormal palate morphology" 1 GO:0090032 "negative regulation of steroid hormone biosynthetic process" 3 NCIT:C36887 "Neoplastic Connective and Soft Tissue Cell" 2 @@ -21823,7 +21780,7 @@ MONDO:0024432 "nerve plexus disorder" 1 UBERON:0000459 "uterine wall" 2 MONDO:0020560 "atypical teratoid rhabdoid tumor" 3 MONDO:0022337 "AIDS dysmorphic syndrome" 1 -MONDO:0010962 "diffuse nonepidermolytic palmoplantar keratoderma" 2 +MONDO:0010962 "diffuse nonepidermolytic palmoplantar keratoderma" 1 MONDO:0015974 "severe combined immunodeficiency" 1 UBERON:0003726 "thoracic nerve" 1 http://identifiers.org/hgnc/26926 "JAGN1" 1 @@ -21876,7 +21833,7 @@ MONDO:0005657 "aspergillosis" 1 GO:0010608 "posttranscriptional regulation of gene expression" 1 MONDO:0015781 "facial dysmorphism-shawl scrotum-joint laxity syndrome" 3 MONDO:0019569 "Cockayne syndrome type 1" 1 -MONDO:0016852 "paternal uniparental disomy of chromosome X" 3 +MONDO:0016852 "paternal uniparental disomy of chromosome X" 2 MONDO:0020125 "acquired neuromuscular junction disease" 1 MONDO:0016727 "extraventricular neurocytoma" 2 UBERON:0000975 "sternum" 2 @@ -21934,7 +21891,6 @@ GO:0030809 "negative regulation of nucleotide biosynthetic process" 3 CL:0002030 "Fc-epsilon RIalpha-high basophil progenitor cell" 1 MONDO:0010916 "polycystic kidney disease 3 with or without polycystic liver disease" 1 MONDO:0001827 "white piedra" 2 -MONDO:0013799 "efavirenz, poor metabolism of" 1 MONDO:0011306 "muscular dystrophy, congenital, with cerebellar atrophy" 1 GO:0045738 "negative regulation of DNA repair" 3 http://identifiers.org/hgnc/7908 "NPHS1" 1 @@ -22226,6 +22182,7 @@ HP:0100806 "Sepsis" 1 MONDO:0018499 "double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy" 1 MONDO:0001578 "hernia of ovary and fallopian tube" 1 MONDO:0014683 "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9" 1 +http://identifiers.org/hgnc/11577 "TAFAZZIN" 1 UBERON:0003098 "optic stalk" 2 MONDO:0014368 "melanoma, cutaneous malignant, susceptibility to, 10" 2 MONDO:0018225 "ALK-positive large B-cell lymphoma" 1 @@ -22347,7 +22304,7 @@ UBERON:0005499 "rhombomere 1" 1 UBERON:0000945 "stomach" 2 MONDO:0030458 "Charcot-Marie-Tooth disease, axonal, Type 2HH" 1 GO:0032502 "developmental process" 1 -MONDO:0017008 "partial duplication of chromosome X" 3 +MONDO:0017008 "partial duplication of chromosome X" 2 MONDO:0018898 "primary cutaneous lymphoma" 2 MONDO:0030927 "myofibrillar myopathy 11" 1 MONDO:0016641 "limb transversal defect-cardiac anomaly syndrome" 2 @@ -22381,7 +22338,7 @@ MONDO:0000460 "neural glioblastoma" 1 MONDO:0030296 "megacystis-microcolon-intestinal hypoperistalsis syndrome 4" 1 MONDO:0030936 "epilepsy, progressive myoclonic, 12" 1 CHEBI:35481 "non-narcotic analgesic" 1 -MONDO:0012168 "dyslexia, susceptibility to, 8" 2 +MONDO:0012168 "dyslexia, susceptibility to, 8" 1 MONDO:0008561 "thumb deformity" 1 CL:0002605 "astrocyte of the cerebral cortex" 2 UBERON:0010255 "3rd arch mesenchyme from neural crest" 3 @@ -22678,7 +22635,7 @@ GO:1903508 "positive regulation of nucleic acid-templated transcription" 2 CHEBI:138675 "gas molecular entity" 1 MONDO:0014243 "Schaaf-Yang syndrome" 1 MONDO:0002882 "colon neuroendocrine neoplasm" 2 -MONDO:0003598 "median nerve neuropathy" 2 +MONDO:0003598 "median nerve neuropathy" 1 UBERON:0011368 "brachiocephalic muscle" 1 MONDO:0016160 "X-linked intellectual disability-epilepsy syndrome" 2 MONDO:0023605 "Laugier-Hunziker syndrome" 1 @@ -22818,7 +22775,7 @@ NCBITaxon:12059 "Enterovirus" 1 MONDO:0019196 "Foix-Alajouanine syndrome" 2 GO:0030885 "regulation of myeloid dendritic cell activation" 1 UBERON:0003249 "epithelium of otic placode" 2 -MONDO:0019924 "paternal uniparental disomy of chromosome 20" 3 +MONDO:0019924 "paternal uniparental disomy of chromosome 20" 2 GO:0015108 "chloride transmembrane transporter activity" 1 GO:0001811 "negative regulation of type I hypersensitivity" 3 MONDO:0001144 "partial third-nerve palsy" 1 @@ -22851,7 +22808,7 @@ MONDO:0016183 "qualitative or quantitative defects of protein glycosyltransferas UBERON:8410015 "arteriole of colon" 1 NCBITaxon:6033 "Encephalitozoon" 1 HP:0009830 "Peripheral neuropathy" 1 -MONDO:0019925 "paternal uniparental disomy of chromosome 21" 3 +MONDO:0019925 "paternal uniparental disomy of chromosome 21" 2 MONDO:0020653 "vaginal adenocarcinoma" 3 MONDO:0013474 "hypertrophic cardiomyopathy 17" 1 MONDO:0025513 "autoimmune urticaria" 2 @@ -23057,7 +23014,6 @@ MONDO:0002025 "psychiatric disorder" 1 http://identifiers.org/hgnc/3146 "ECE1" 1 http://identifiers.org/hgnc/6224 "KCNA5" 1 GO:0045596 "negative regulation of cell differentiation" 3 -MONDO:0016946 "partial trisomy of the short arm of chromosome 9" 1 MONDO:0007007 "Ureaplasma urethritis" 1 UBERON:0035267 "neck of gallbladder" 1 UBERON:0006170 "mesonephric capsule" 1 @@ -23140,7 +23096,7 @@ MONDO:0004106 "testicular yolk sac tumor, macrocystic pattern" 1 MONDO:0005490 "large artery stroke" 2 MONDO:0010129 "thymic-renal-anal-lung dysplasia" 2 UBERON:0010025 "dorsal part of pharyngeal pouch 3" 3 -MONDO:0016650 "paternal uniparental disomy of chromosome 1" 3 +MONDO:0016650 "paternal uniparental disomy of chromosome 1" 2 MONDO:0010484 "hearing loss, X-linked 6" 1 MONDO:0010792 "lethal infantile mitochondrial myopathy" 2 HP:0002846 "Abnormal B cell morphology" 1 @@ -23175,7 +23131,7 @@ MONDO:0015540 "hemophagocytic syndrome" 2 MONDO:0030375 "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2" 1 http://identifiers.org/hgnc/9220 "POU4F3" 1 MONDO:0018695 "avian influenza" 1 -MONDO:0002156 "fallopian tube disorder" 2 +MONDO:0002156 "fallopian tube disorder" 1 UBERON:0001732 "pharyngeal tonsil" 2 MONDO:0016901 "partial deletion of the long arm of chromosome 2" 1 CHEBI:32952 "amine" 1 @@ -23385,7 +23341,7 @@ MONDO:0014376 "intellectual disability, autosomal dominant 27" 2 CHEBI:33308 "carboxylic ester" 2 UBERON:0006544 "kidney vasculature" 2 MONDO:0000426 "autosomal dominant disease" 1 -MONDO:0001468 "synovial plica syndrome" 3 +MONDO:0001468 "synovial plica syndrome" 2 GO:0044272 "sulfur compound biosynthetic process" 2 UBERON:0008998 "vasculature of brain" 2 MONDO:0011578 "familial papillary thyroid carcinoma with renal papillary neoplasia" 3 @@ -23685,7 +23641,7 @@ MONDO:0014561 "3-methylglutaconic aciduria with cataracts, neurologic involvemen MONDO:0009068 "cytochrome-c oxidase deficiency disease" 2 GO:0006099 "tricarboxylic acid cycle" 1 http://identifiers.org/hgnc/10879 "STIL" 1 -MONDO:0015228 "pentasomy X" 4 +MONDO:0015228 "pentasomy X" 3 http://identifiers.org/hgnc/6443 "KRT6A" 1 ECTO:7000018 "exposure to rock" 1 MONDO:0030060 "neurodevelopmental disorder with language impairment and behavioral abnormalities" 2 @@ -23718,7 +23674,7 @@ GO:1904675 "regulation of somatic stem cell division" 1 MONDO:0003504 "anal canal neuroendocrine neoplasm" 3 MONDO:0013441 "asphyxiating thoracic dystrophy 4" 1 UBERON:0006558 "lymphatic part of lymphoid system" 1 -MONDO:0005327 "hip fracture" 3 +MONDO:0005327 "hip fracture" 2 MONDO:0007030 "autosomal dominant Aarskog syndrome" 2 NCBITaxon:9903 "Bos" 1 UBERON:0009578 "myelencephalon sulcus limitans" 1 @@ -23726,9 +23682,10 @@ MONDO:0018310 "Langerhans cell histiocytosis" 3 GO:0045934 "negative regulation of nucleobase-containing compound metabolic process" 3 MONDO:0007497 "ear antitragus, tag at base of" 1 MONDO:0006041 "lung carcinoid tumor" 2 -MONDO:0005495 "adrenal gland disorder" 2 +MONDO:0005495 "adrenal gland disorder" 1 SO:0001637 "rRNA_gene" 1 MONDO:0100330 "disease arising from reactivation of latent virus" 1 +http://identifiers.org/hgnc/27232 "CFAP418" 1 MONDO:0021636 "astrocytic tumor" 1 MONDO:0001491 "cough variant asthma" 1 http://identifiers.org/hgnc/6621 "LIPE" 1 @@ -24175,7 +24132,7 @@ MONDO:0004555 "kidney angiomyolipoma" 3 MONDO:0000677 "semantic agnosia" 1 MONDO:0004663 "colon carcinoma in situ" 2 MONDO:0003505 "femoral cancer" 2 -MONDO:0000953 "cancer of short bone of lower limb" 2 +MONDO:0000953 "cancer of short bone of lower limb" 1 MONDO:0005164 "fibrosarcoma" 2 UBERON:0005305 "thyroid follicle" 1 MONDO:0022883 "craniofacial and skeletal defects" 1 @@ -24310,7 +24267,6 @@ GO:2000832 "negative regulation of steroid hormone secretion" 4 UBERON:0004380 "proximal epiphysis" 1 MONDO:0004931 "residual stage corticosteroid-induced glaucoma" 1 MONDO:0001967 "gonadal dysgenesis" 1 -http://identifiers.org/hgnc/27232 "C8orf37" 1 GO:0004683 "calmodulin-dependent protein kinase activity" 1 MONDO:0007903 "Li-Fraumeni syndrome 1" 1 UBERON:0001302 "right uterine tube" 1 @@ -24331,7 +24287,7 @@ UBERON:0004772 "eyelid tarsus" 1 MONDO:0042452 "tertiary lesion of yaws" 1 PATO:0001657 "increased osmolarity" 2 UBERON:0011971 "calcaneofibular ligament" 1 -MONDO:0017003 "partial deletion of chromosome X" 3 +MONDO:0017003 "partial deletion of chromosome X" 2 http://identifiers.org/hgnc/14897 "ITPKC" 1 MONDO:0003399 "pineal region yolk sac tumor" 2 MONDO:0002493 "prostatic acinar adenocarcinoma" 2 @@ -24382,7 +24338,7 @@ MONDO:0004858 "occlusion of gallbladder" 1 MONDO:0008127 "ophthalmomandibulomelic dysplasia" 1 MONDO:0013359 "familial hyperaldosteronism type III" 1 MONDO:0001647 "benign renovascular hypertension" 2 -MONDO:0014220 "myopathy due to myoadenylate deaminase deficiency" 1 +MONDO:0014220 "myopathy due to myoadenylate deaminase deficiency" 2 MONDO:0003966 "testicular monophasic choriocarcinoma" 1 CL:0002006 "Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell" 1 MONDO:0020790 "gaze palsy, familial horizontal, with progressive scoliosis 1" 1 @@ -24639,7 +24595,6 @@ MONDO:0030976 "oculomotor-abducens synkinesis" 1 HP:0031263 "Abnormal renal corpuscle morphology" 2 NCBITaxon:7586 "Echinodermata" 1 UBERON:0011850 "acinus of salivary gland" 1 -MONDO:0007141 "antiviral state repressor, regulator of" 1 MONDO:0011518 "Wiedemann-Steiner syndrome" 5 GO:1904803 "regulation of translation involved in cellular response to UV" 1 MONDO:0018352 "squamous cell carcinoma of penis" 2 @@ -24690,7 +24645,7 @@ MONDO:0018244 "obesity due to SIM1 deficiency" 1 MONDO:0008263 "polycystic kidney disease 1" 1 oboInOwl:Subset 1 NCBITaxon:8287 "Sarcopterygii" 1 -MONDO:0005197 "thymus neoplasm" 4 +MONDO:0005197 "thymus neoplasm" 3 NCBITaxon:565995 "Bundibugyo ebolavirus" 1 http://identifiers.org/hgnc/17210 "DHX37" 1 MONDO:0020546 "acute graft versus host disease" 2 @@ -24709,7 +24664,7 @@ HP:0008386 "Aplasia/Hypoplasia of the nails" 1 MONDO:0032617 "mitochondrial complex 1 deficiency, nuclear type 11" 1 MONDO:0012750 "lethal arthrogryposis-anterior horn cell disease syndrome" 1 http://identifiers.org/hgnc/18744 "DNAI2" 1 -MONDO:0001712 "alexia" 2 +MONDO:0001712 "alexia" 3 CHEBI:50860 "organic molecular entity" 1 MONDO:0017282 "alveolar echinococcosis" 1 CL:0000355 "multi-potent skeletal muscle stem cell" 2 @@ -25072,7 +25027,7 @@ MONDO:0005628 "male breast carcinoma" 1 MONDO:0008769 "neuronal ceroid lipofuscinosis 2" 2 MONDO:0016618 "rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies" 1 MONDO:0016780 "paternal 14q32.2 microdeletion syndrome" 2 -MONDO:0001594 "Achilles bursitis" 4 +MONDO:0001594 "Achilles bursitis" 3 http://identifiers.org/hgnc/28033 "CCDC174" 1 CL:0002656 "glandular cell of endometrium" 1 MONDO:0001879 "anus cancer" 2 @@ -25217,7 +25172,7 @@ MONDO:0005748 "enzootic pneumonia of calves" 2 GO:0002228 "natural killer cell mediated immunity" 2 MONDO:0004234 "chronic lymphoproliferative disorder of NK-cells" 1 MONDO:0014526 "polyglucosan body myopathy type 2" 4 -MONDO:0005154 "liver disorder" 3 +MONDO:0005154 "liver disorder" 2 http://identifiers.org/hgnc/9451 "PROC" 1 GO:0045724 "positive regulation of cilium assembly" 3 MONDO:0013552 "hereditary spastic paraplegia 52" 1 @@ -25370,7 +25325,7 @@ MONDO:0019513 "esophageal malformation" 2 MONDO:0004816 "refractory plasma cell neoplasm" 2 CHEBI:50910 "neurotoxin" 2 MONDO:0003000 "central nervous system germ cell tumor" 2 -MONDO:0000491 "limb ischemia" 2 +MONDO:0000491 "limb ischemia" 1 MONDO:0018937 "mucopolysaccharidosis type 3" 4 MONDO:0013645 "autosomal recessive spinocerebellar ataxia 11" 1 NCBITaxon:45258 "Rickettsia conorii subsp. israelensis" 1 @@ -25458,7 +25413,7 @@ http://identifiers.org/hgnc/6637 "LMNB1" 1 UBERON:0004742 "dentary" 3 MONDO:0023657 "intellectual developmental disorder, autosomal dominant 65" 1 CHEBI:37175 "organic hydride" 1 -MONDO:0044342 "thoracic disc degenerative disorder" 2 +MONDO:0044342 "thoracic disc degenerative disorder" 1 MONDO:0020550 "gestational choriocarcinoma" 4 CHR:9606-chr2p12-p11.2 "2p12-p11.2 (Human)" 1 MONDO:0003874 "ovarian serous surface papillary adenocarcinoma" 3 @@ -25945,7 +25900,6 @@ MONDO:0010355 "syndromic X-linked intellectual disability Claes-Jensen type" 4 UBERON:0006833 "lumen of trachea" 1 UBERON:0005686 "caecum dorsal mesentery" 1 MONDO:0004169 "premenstrual tension" 1 -MONDO:0022109 "catatrichy" 1 MONDO:0017393 "blepharophimosis - intellectual disability syndrome" 3 NCBITaxon:11036 "Venezuelan equine encephalitis virus" 1 GO:0006909 "phagocytosis" 1 @@ -26000,7 +25954,7 @@ GO:0043467 "regulation of generation of precursor metabolites and energy" 1 CHEBI:35221 "antimetabolite" 1 UBERON:0016928 "metaphysis of fibula" 1 MONDO:0008861 "3-methylcrotonyl-CoA carboxylase 1 deficiency" 2 -MONDO:0019906 "ring chromosome 11" 3 +MONDO:0019906 "ring chromosome 11" 2 CL:0000095 "neuron associated cell" 1 CHR:9606-chr2q31 "2q31 (Human)" 1 http://identifiers.org/hgnc/7392 "MSX2" 1 @@ -26036,7 +25990,7 @@ http://identifiers.org/hgnc/11647 "TCIRG1" 1 UBERON:0003548 "forebrain meninges" 1 MONDO:0017861 "ethylene glycol poisoning" 1 MONDO:0042603 "Sanderson-Fraser syndrome" 1 -MONDO:0019909 "ring chromosome 16" 3 +MONDO:0019909 "ring chromosome 16" 2 GO:0090596 "sensory organ morphogenesis" 1 MONDO:0022519 "autoimmune myocarditis" 2 http://identifiers.org/hgnc/3383 "STOM" 1 @@ -26059,13 +26013,13 @@ MONDO:0016057 "isolated encephalocele" 1 HP:0040194 "Increased head circumference" 1 MONDO:0011522 "hereditary spastic paraplegia 14" 1 UBERON:0000179 "haemolymphatic fluid" 1 -MONDO:0019907 "ring chromosome 13" 4 +MONDO:0019907 "ring chromosome 13" 3 MONDO:0008423 "sinus node disease and myopia" 1 HP:0003074 "Hyperglycemia" 1 MONDO:0020456 "pleuro-pericardial cyst" 1 GO:0098858 "actin-based cell projection" 1 GO:0033363 "secretory granule organization" 1 -MONDO:0000369 "abdominal tuberculosis" 2 +MONDO:0000369 "abdominal tuberculosis" 1 HP:0410043 "Abnormal neural tube morphology" 1 GO:0097503 "sialylation" 1 HP:0000275 "Narrow face" 1 @@ -26112,7 +26066,7 @@ MONDO:0045004 "skeletal ligament disorder" 2 MONDO:0004229 "acantholytic variant squamous cell breast carcinoma" 1 MONDO:0012992 "pancreatic insufficiency-anemia-hyperostosis syndrome" 4 MONDO:0016189 "qualitative or quantitative defects of filamin C" 1 -MONDO:0019908 "ring chromosome 15" 3 +MONDO:0019908 "ring chromosome 15" 2 MONDO:0002289 "iris disorder" 1 CL:0000954 "small pre-B-II cell" 1 MONDO:0003330 "urinary tract obstruction" 1 @@ -26188,7 +26142,7 @@ MONDO:0013674 "neurodegeneration with brain iron accumulation 4" 3 CHEBI:8058 "phencyclidine" 2 UBERON:0000045 "ganglion" 1 MONDO:0018142 "pyruvate carboxylase deficiency, severe neonatal type" 1 -MONDO:0001358 "bronchial disorder" 2 +MONDO:0001358 "bronchial disorder" 1 MONDO:0014453 "immunodeficiency 36" 1 MONDO:0042499 "benign familial neonatal-infantile seizures 1" 1 UBERON:0035825 "left adrenal gland cortex" 1 @@ -26315,7 +26269,6 @@ HP:0011446 "Abnormality of higher mental function" 1 GO:0071825 "protein-lipid complex subunit organization" 1 UBERON:0005316 "endocardial endothelium" 1 UBERON:0000326 "pancreatic juice" 1 -MONDO:0014053 "stomatin-like protein-2, hyperphosphorylation of" 1 GO:0019211 "phosphatase activator activity" 2 GO:0030183 "B cell differentiation" 2 MONDO:0011990 "seizures, benign familial neonatal, 3" 1 @@ -26364,7 +26317,7 @@ MONDO:0041959 "fibrosis of bile duct" 1 MONDO:0018548 "acute poisoning by drugs with membrane-stabilizing effect" 1 MONDO:0004979 "asthma" 1 MONDO:0013685 "pancreatic cancer, susceptibility to, 4" 1 -MONDO:0005319 "humerus fracture" 3 +MONDO:0005319 "humerus fracture" 2 MONDO:0007335 "orofacial cleft 1" 1 UBERON:0017659 "ventral surface of penis" 1 http://identifiers.org/hgnc/16512 "BSND" 1 @@ -26581,7 +26534,7 @@ MONDO:0060562 "encephalopathy, neonatal severe, with lactic acidosis and brain a UBERON:0007220 "late embryonic stage" 1 MONDO:0004693 "squamous carcinoma in situ" 2 MONDO:0006484 "usual ductal breast hyperplasia" 2 -MONDO:0024429 "Alice in Wonderland syndrome" 2 +MONDO:0024429 "Alice in Wonderland syndrome" 3 http://identifiers.org/hgnc/3229 "EGF" 1 MONDO:0005661 "babesiosis" 1 GO:0051924 "regulation of calcium ion transport" 1 @@ -26972,7 +26925,7 @@ NCBITaxon:1760 "Actinomycetia" 1 CL:0000740 "retinal ganglion cell" 1 CHEBI:33710 "alpha-amino-acid residue" 1 GO:0016667 "oxidoreductase activity, acting on a sulfur group of donors" 1 -MONDO:0019929 "49,XXXXY syndrome" 9 +MONDO:0019929 "49,XXXXY syndrome" 8 MONDO:0001634 "bladder leiomyoma" 2 MONDO:0013881 "congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome" 3 UBERON:0016528 "white matter of frontal lobe" 1 @@ -27234,7 +27187,7 @@ CHR:9606-chr3q23 "3q23 (Human)" 1 MONDO:0032738 "gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy" 1 MONDO:0018226 "infantile epileptic-dyskinetic encephalopathy" 1 UBERON:0002068 "urachus" 1 -MONDO:0003528 "Volkmann contracture" 2 +MONDO:0003528 "Volkmann contracture" 1 http://identifiers.org/hgnc/15492 "ANKH" 1 GO:1905636 "positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding" 2 MONDO:0019073 "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome" 2 @@ -27354,7 +27307,6 @@ MONDO:0043096 "holoacardius amorphus" 1 NCBITaxon:1658400 "Hectopsyllidae" 1 MONDO:0019126 "intractable diarrhea of infancy" 1 MONDO:0011672 "persistent polyclonal B-cell lymphocytosis" 2 -MONDO:0043195 "rubinstein taybi like syndrome" 1 MONDO:0001512 "intermittent proptosis" 1 CL:1000443 "ciliary muscle cell" 1 MONDO:0007986 "metatropic dysplasia" 3 @@ -27366,7 +27318,6 @@ CHEBI:76729 "EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor" 1 MONDO:0016545 "leukoencephalopathy-palmoplantar keratoderma syndrome" 1 MONDO:0014864 "hypermanganesemia with dystonia 2" 4 CHR:9606-chr17p13.3 "17p13.3 (Human)" 1 -MONDO:0008625 "urate-binding globulin, decrease 1N" 1 MONDO:0012778 "celiac disease, susceptibility to, 9" 1 MONDO:0012950 "aneurysm, intracranial berry, 10" 1 NCBITaxon:34622 "Haemaphysalis" 1 @@ -27469,7 +27420,7 @@ MONDO:0009287 "glycogen storage disease due to glucose-6-phosphatase deficiency NCBITaxon:2732541 "Reovirales" 1 MONDO:0012305 "photoparoxysmal response 3" 1 MONDO:0012304 "photoparoxysmal response 2" 1 -MONDO:0001042 "patellar tendinitis" 3 +MONDO:0001042 "patellar tendinitis" 2 HP:0100716 "Self-injurious behavior" 1 NCBITaxon:642 "Aeromonas" 1 UBERON:0011133 "intermetatarsal joint" 1 @@ -27667,7 +27618,7 @@ MONDO:0032767 "paragangliomas 6" 1 MONDO:0009993 "embryonal rhabdomyosarcoma" 2 http://identifiers.org/hgnc/12731 "WAS" 1 MONDO:0013396 "chromosome 1p32-p31 deletion syndrome" 2 -MONDO:0019886 "distal trisomy 13q" 2 +MONDO:0019886 "distal trisomy 13q" 1 MONDO:0100054 "idiopathic anaphylaxis" 2 GO:0004497 "monooxygenase activity" 1 http://identifiers.org/hgnc/6267 "KCNJ6" 1 @@ -27907,7 +27858,6 @@ NCBITaxon:63330 "Hendra henipavirus" 1 MONDO:0019434 "systemic-onset juvenile idiopathic arthritis" 2 HP:0011016 "Abnormality of urine glucose concentration" 1 MONDO:0021957 "autosomal recessive nonsyndromic congenital nuclear cataract" 1 -MONDO:0017005 "Y chromosome number anomaly" 1 http://identifiers.org/hgnc/5950 "IGSF3" 1 MONDO:0031013 "autoimmune optic neuritis" 3 MONDO:0011553 "autosomal recessive nonsyndromic hearing loss 26" 1 @@ -28237,7 +28187,6 @@ MONDO:0017621 "congenital sucrase-isomaltase deficiency with starch and lactose MONDO:0009191 "Lowry-Wood syndrome" 1 UBERON:0003412 "pelvic appendage bud mesenchyme" 1 MONDO:0009454 "immunodeficiency-centromeric instability-facial anomalies syndrome 1" 1 -MONDO:0007622 "flood factor deficiency" 2 GO:0002865 "negative regulation of acute inflammatory response to antigenic stimulus" 3 NCBITaxon:33317 "Protostomia" 1 MONDO:0005927 "polyomavirus infectious disease" 1 @@ -28538,7 +28487,7 @@ MONDO:0014383 "myopathy, tubular aggregate, 2" 1 MONDO:0001239 "anemia of prematurity" 1 http://identifiers.org/hgnc/6139 "ITGA3" 1 ECTO:4000026 "exposure to decreased pressure" 2 -MONDO:0016045 "tetragametic chimerism" 2 +MONDO:0016045 "tetragametic chimerism" 1 UBERON:0036295 "renal pelvis/ureter" 1 MONDO:0700070 "myopathy caused by variation in POMT1" 2 http://identifiers.org/hgnc/6902 "MASP2" 1 @@ -28895,6 +28844,7 @@ MONDO:0014260 "immunodeficiency, common variable, 10" 1 NCBITaxon:29120 "Oligoryzomys" 1 UBERON:0003551 "midbrain pia mater" 2 UBERON:0011779 "nerve of head region" 1 +MONDO:8000023 "type 3 autoimmune lymphoproliferative syndrome" 1 UBERON:0002407 "pericardium" 2 MONDO:0009234 "congenital high-molecular-weight kininogen deficiency" 3 MONDO:0060704 "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" 2 @@ -28968,7 +28918,7 @@ MONDO:0003073 "trilateral retinoblastoma" 1 http://identifiers.org/hgnc/11199 "SOX3" 1 MONDO:0040673 "malignant peritoneal germ cell tumor" 2 MONDO:0011212 "sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth" 1 -MONDO:0002258 "pharyngitis" 3 +MONDO:0002258 "pharyngitis" 2 http://identifiers.org/hgnc/30492 "DNAAF3" 1 MONDO:0011831 "arrhythmogenic right ventricular dysplasia 8" 1 MONDO:0009210 "congenital factor V deficiency" 3 @@ -29068,17 +29018,17 @@ http://identifiers.org/hgnc/29515 "PLEKHG2" 1 MONDO:0021193 "neuroepithelial neoplasm" 1 MONDO:0001711 "hepatic encephalopathy" 1 GO:0042593 "glucose homeostasis" 1 -MONDO:0018930 "monosomy 21" 2 +MONDO:0018930 "monosomy 21" 1 MONDO:0003686 "apocrine sweat gland neoplasm" 2 http://identifiers.org/hgnc/6156 "ITGB3" 1 -MONDO:0004869 "pelvic varices" 2 +MONDO:0004869 "pelvic varices" 1 GO:0098588 "bounding membrane of organelle" 1 MONDO:0017588 "nail tumor" 2 http://identifiers.org/hgnc/6155 "ITGB2" 1 CHEBI:35143 "hemoglobin" 1 GO:0010927 "cellular component assembly involved in morphogenesis" 2 MONDO:0005810 "infectious mononucleosis" 1 -MONDO:0019885 "distal trisomy 11q" 2 +MONDO:0019885 "distal trisomy 11q" 1 MONDO:0016862 "Alagille syndrome due to a JAG1 point mutation" 1 CHEBI:33431 "elemental chlorine" 2 MONDO:0012788 "coronary heart disease, susceptibility to, 9" 2 @@ -29102,7 +29052,7 @@ MONDO:0020636 "mendelian susceptibility to mycobacterial diseases due to a compl UBERON:0001805 "autonomic ganglion" 1 UBERON:0010955 "trapezius pre-muscle mass" 2 MONDO:0009239 "hypogonadotropic hypogonadism 24 without anosmia" 1 -MONDO:0020468 "paternal uniparental disomy of chromosome 13" 3 +MONDO:0020468 "paternal uniparental disomy of chromosome 13" 2 UBERON:0001445 "skeleton of pes" 1 MONDO:0022736 "occupational lung disease" 2 UBERON:0009744 "lymph node medullary sinus" 1 @@ -29255,7 +29205,7 @@ MONDO:0020018 "cranial malformation" 1 MONDO:0012834 "systemic lupus erythematosus, susceptibility to, 10" 1 MONDO:0025113 "poultry disease" 1 MONDO:0011484 "catecholaminergic polymorphic ventricular tachycardia 1" 1 -MONDO:0003393 "thymus gland disorder" 4 +MONDO:0003393 "thymus gland disorder" 3 MONDO:0005988 "toxocariasis" 1 MONDO:0009267 "Gaucher disease type III" 7 MONDO:0009873 "pilodental dysplasia-refractive errors syndrome" 1 @@ -29742,7 +29692,7 @@ MONDO:0018838 "lissencephaly spectrum disorders" 4 SO:0000988 "circular" 1 http://identifiers.org/hgnc/19041 "COQ8B" 1 MONDO:0012011 "coronary artery disease, autosomal dominant, 1" 2 -MONDO:0011689 "dyslexia, susceptibility to, 6" 2 +MONDO:0011689 "dyslexia, susceptibility to, 6" 1 MONDO:0005173 "actinic keratosis" 2 UBERON:0034720 "head taste bud" 1 MONDO:0010175 "van Bogaert-Hozay syndrome" 1 @@ -29800,6 +29750,7 @@ MONDO:0016595 "inhalational anthrax" 1 MONDO:0024626 "defective phagocytic cell engulfment" 1 MONDO:0016009 "fetal trimethadione syndrome" 2 http://identifiers.org/hgnc/2932 "DMP1" 1 +MONDO:0700043 "syndrome caused by partial chromosomal duplication of the short arm of chromosome 9" 1 http://identifiers.org/hgnc/10526 "SALL2" 1 MONDO:0001880 "median rhomboid glossitis" 1 GO:0005262 "calcium channel activity" 2 @@ -29827,7 +29778,7 @@ http://identifiers.org/hgnc/23785 "PIKFYVE" 1 HP:0000301 "Abnormality of facial musculature" 2 UBERON:0006866 "terminal part of digestive tract" 1 GO:0051253 "negative regulation of RNA metabolic process" 3 -MONDO:0001127 "tibialis tendinitis" 2 +MONDO:0001127 "tibialis tendinitis" 1 UBERON:0005908 "conjunctival sac" 1 MONDO:0003758 "childhood testicular germ cell tumor" 3 UBERON:0000074 "renal glomerulus" 2 @@ -29926,7 +29877,7 @@ MONDO:0014522 "retinal dystrophy and obesity" 1 UBERON:0004327 "middle phalanx of pedal digit 5" 3 GO:0001906 "cell killing" 1 MONDO:0018379 "primary avascular necrosis" 1 -MONDO:0018248 "intellectual disability-seizures-macrocephaly-obesity syndrome" 7 +MONDO:0018248 "intellectual disability-seizures-macrocephaly-obesity syndrome" 6 GO:0046579 "positive regulation of Ras protein signal transduction" 2 MONDO:0002076 "pneumothorax" 1 MONDO:0010500 "intellectual disability, X-linked, syndromic 33" 1 @@ -30180,7 +30131,7 @@ MONDO:0015196 "vein of Galen aneurysm" 4 CHEBI:22718 "benzoates" 1 GO:0032352 "positive regulation of hormone metabolic process" 2 MONDO:0019372 "solitary bone cyst" 1 -MONDO:0019912 "maternal uniparental disomy of chromosome 6" 3 +MONDO:0019912 "maternal uniparental disomy of chromosome 6" 2 MONDO:0004930 "steroid-induced glaucoma" 1 MONDO:0009789 "nonarteritic anterior ischemic optic neuropathy, susceptibility to" 1 HP:0000979 "Purpura" 1 @@ -30281,9 +30232,9 @@ MONDO:0033619 "myopathy, epilepsy, and progressive cerebral atrophy" 1 MONDO:0013882 "hyperphosphatasia with intellectual disability syndrome 2" 1 NCBITaxon:5763 "Naegleria fowleri" 1 MONDO:0060577 "neurodevelopmental disorder with microcephaly, ataxia, and seizures" 2 -MONDO:0019914 "maternal uniparental disomy of chromosome 9" 3 +MONDO:0019914 "maternal uniparental disomy of chromosome 9" 2 UBERON:0004787 "urethra urothelium" 2 -MONDO:0019911 "maternal uniparental disomy of chromosome 4" 3 +MONDO:0019911 "maternal uniparental disomy of chromosome 4" 2 MONDO:0014587 "congenital myasthenic syndrome 9" 1 UBERON:0010538 "paired limb/fin segment" 1 MONDO:0010099 "Tay-Sachs disease AB variant" 1 @@ -30368,7 +30319,7 @@ MONDO:0014915 "short-rib thoracic dysplasia 16 with or without polydactyly" 2 http://identifiers.org/hgnc/14974 "SNX10" 1 UBERON:0009882 "anal column" 1 MONDO:0005725 "cyclosporiasis" 1 -MONDO:0011418 "dyslexia, susceptibility to, 3" 2 +MONDO:0011418 "dyslexia, susceptibility to, 3" 1 GO:0015980 "energy derivation by oxidation of organic compounds" 1 MONDO:0022982 "die Smulders Vles Fryns syndrome" 1 MONDO:0002121 "mononeuritis simplex" 2 @@ -30389,7 +30340,7 @@ MONDO:0003055 "secretory meningioma" 1 HP:0003552 "Muscle stiffness" 1 MONDO:0041259 "diphtheritic myocarditis" 2 MONDO:0011780 "specific language impairment 3" 1 -MONDO:0019910 "maternal uniparental disomy of chromosome 2" 3 +MONDO:0019910 "maternal uniparental disomy of chromosome 2" 2 MONDO:0013212 "Charcot-Marie-Tooth disease axonal type 2N" 1 MONDO:0005094 "hemangiopericytoma" 1 OBA:1001084 "feces osmolality" 2 @@ -31096,7 +31047,7 @@ MONDO:0007572 "primary familial polycythemia due to EPO receptor mutation" 1 MONDO:0007469 "double nail for fifth toe" 2 MONDO:0016863 "Okihiro syndrome due to 20q13 microdeletion" 2 HP:0040069 "Abnormal lower limb bone morphology" 2 -MONDO:0000922 "pelvic inflammatory disease" 3 +MONDO:0000922 "pelvic inflammatory disease" 2 MONDO:0004635 "postcricoid region cancer" 1 MONDO:0024492 "tumor grade 2, general grading system" 2 HP:0031466 "Impairment in personality functioning" 1 @@ -31867,7 +31818,6 @@ MONDO:0013772 "congenital cataract-hearing loss-severe developmental delay syndr GO:0000791 "euchromatin" 1 GO:0015985 "energy coupled proton transport, down electrochemical gradient" 1 CHEBI:26607 "saturated fatty acid" 1 -MONDO:0020056 "uniparental disomy of maternal origin" 1 http://identifiers.org/hgnc/24229 "CIDEC" 1 MONDO:0004853 "gonococcal endophthalmia" 2 UBERON:0004264 "lower leg skin" 1 @@ -32149,7 +32099,6 @@ MONDO:0003453 "conjunctival intraepithelial neoplasm" 2 MONDO:0005213 "uterine carcinoma" 2 MONDO:0010660 "intellectual disability, X-linked 9" 1 http://identifiers.org/hgnc/4922 "HK1" 1 -MONDO:0010705 "ouabain resistance" 1 MONDO:0016954 "partial duplication of the long arm of chromosome 3" 1 MONDO:0016958 "partial duplication of the long arm of chromosome 7" 1 MONDO:0017640 "cyanide-induced parkinsonism" 2 @@ -32163,7 +32112,7 @@ MONDO:0030518 "trichothiodystrophy 9, nonphotosensitive" 1 HP:0002414 "Spina bifida" 1 MONDO:0014264 "otosclerosis 10" 1 MONDO:0032841 "Usher syndrome, type 1M" 1 -MONDO:0006061 "cervical artery dissection" 2 +MONDO:0006061 "cervical artery dissection" 1 UBERON:0014770 "palpebral artery" 2 UBERON:0009712 "endocardium of right ventricle" 1 MONDO:0030314 "inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive" 1 @@ -32226,7 +32175,7 @@ HP:0002239 "Gastrointestinal hemorrhage" 2 CL:0000223 "endodermal cell" 1 GO:0042044 "fluid transport" 1 MONDO:0013837 "deafness-encephaloneuropathy-obesity-valvulopathy syndrome" 1 -MONDO:0006988 "sulfhemoglobinemia" 1 +MONDO:0006988 "sulfhemoglobinemia" 2 MONDO:0001272 "functional diarrhea" 1 MONDO:0006506 "congenital nonspherocytic hemolytic anemia" 3 HP:0011031 "Abnormality of iron homeostasis" 1 @@ -32264,7 +32213,7 @@ GO:0032769 "negative regulation of monooxygenase activity" 2 http://identifiers.org/hgnc/13806 "NEUROG3" 1 MONDO:0001000 "mixed mineral dust pneumoconiosis" 1 MONDO:0008118 "odontomatosis-aortae esophagus stenosis syndrome" 1 -MONDO:0001672 "bronchus cancer" 3 +MONDO:0001672 "bronchus cancer" 2 http://identifiers.org/hgnc/735 "ASAH1" 1 NCBITaxon:1824 "Nocardia asteroides" 1 MONDO:0044956 "paranasal sinus mucoepidermoid carcinoma" 2 @@ -32503,7 +32452,6 @@ UBERON:0004403 "periosteum of epiphysis" 1 http://identifiers.org/hgnc/13872 "RIPOR2" 1 MONDO:0010969 "cone-rod dystrophy 5" 1 http://identifiers.org/hgnc/28625 "NDUFAF6" 1 -MONDO:0007139 "Antipyrine metabolism" 1 CHEBI:35544 "EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor" 1 MONDO:0011491 "epilepsy, idiopathic generalized, susceptibility to, 7" 1 UBERON:0000015 "non-material anatomical boundary" 1 @@ -32528,6 +32476,7 @@ UBERON:0013232 "serous acinus" 1 MONDO:0043077 "weinstein kliman scully syndrome" 3 MONDO:0014971 "amelogenesis imperfecta, hypomaturation type, IIa6" 1 MONDO:0022699 "cerebral palsy spastic hemiplegic" 1 +MONDO:0100490 "breasts and/or nipples, aplasia or hypoplasia of, 1" 1 GO:0016407 "acetyltransferase activity" 1 MONDO:0009830 "parkinsonian-pyramidal syndrome" 1 GO:1900425 "negative regulation of defense response to bacterium" 5 @@ -32700,7 +32649,7 @@ http://identifiers.org/hgnc/13997 "PRDM12" 1 ENVO:01000280 "ecozone" 1 CHR:9606-chr3q29 "3q29 (Human)" 1 MONDO:0004882 "angioid streaks of choroid" 3 -MONDO:0019904 "ring chromosome 3" 3 +MONDO:0019904 "ring chromosome 3" 2 MONDO:0004081 "extrahepatic bile duct clear cell adenocarcinoma" 2 MONDO:0016598 "autosomal recessive secondary polycythemia not associated with VHL gene" 1 MONDO:0020805 "benign basal cell neoplasm" 2 @@ -32726,7 +32675,6 @@ GO:0070613 "regulation of protein processing" 2 GO:0042105 "alpha-beta T cell receptor complex" 1 MONDO:0009672 "spinal muscular atrophy, type III" 1 MONDO:0005910 "phagocyte bactericidal dysfunction" 3 -MONDO:0017011 "uniparental disomy of chromosome X" 1 FOODON:00002501 "multi-component food product"@en 1 GO:1903788 "positive regulation of glutathione biosynthetic process" 4 GO:0044042 "glucan metabolic process" 1 @@ -32739,7 +32687,7 @@ GO:0045652 "regulation of megakaryocyte differentiation" 1 MONDO:0019583 "localized lichen myxedematosus with mixed features of different subtypes" 1 NCBITaxon:144051 "Cripavirus" 1 MONDO:0010490 "SSR4-CDG" 7 -MONDO:0002332 "splenic disorder" 3 +MONDO:0002332 "splenic disorder" 2 ENVO:01000639 "planetary structural layer"@en 1 MONDO:0011089 "patent ductus venosus" 1 UBERON:0004938 "submucosa of biliary tree" 1 @@ -32822,7 +32770,7 @@ UBERON:0005865 "pre-muscle condensation" 1 CHEBI:45696 "hydrogensulfate" 1 MONDO:0009133 "cerebellar ataxia, intellectual disability, and dysequilibrium" 2 GO:0032113 "regulation of carbohydrate phosphatase activity" 1 -MONDO:0021726 "abdominal cystic lymphangioma" 2 +MONDO:0021726 "abdominal cystic lymphangioma" 1 MONDO:0008720 "congenital isolated adrenocorticotropic hormone deficiency" 2 MONDO:0018078 "soft tissue sarcoma" 2 GO:0055074 "calcium ion homeostasis" 2 @@ -32830,7 +32778,7 @@ MONDO:0007840 "internal carotid artery, spontaneous dissection of" 1 MONDO:0019692 "multiple epiphyseal dysplasia and pseudoachondroplasia" 1 MONDO:0034145 "oculocerebrodental syndrome" 6 MONDO:0012143 "hereditary cryohydrocytosis with reduced stomatin" 4 -MONDO:0019903 "ring chromosome 2" 3 +MONDO:0019903 "ring chromosome 2" 2 MONDO:0007428 "deafness-craniofacial syndrome" 3 UBERON:0016491 "vertebral centrum element" 1 ENVO:01001008 "meteor"@en 1 @@ -32841,6 +32789,7 @@ MONDO:0014595 "developmental and epileptic encephalopathy, 30" 4 HP:0009064 "Generalized lipodystrophy" 1 http://identifiers.org/hgnc/9713 "PEX19" 1 CL:0002014 "Kit-negative, Ly-76 high basophilic erythroblast" 1 +http://identifiers.org/hgnc/12013 "TPM4" 1 MONDO:0010774 "striatonigral degeneration, infantile, mitochondrial" 1 UBERON:0002040 "bronchial artery" 1 NCBITaxon:577468 "Micrococcales incertae sedis" 1 @@ -32854,7 +32803,6 @@ http://identifiers.org/hgnc/24587 "FAM126A" 1 MONDO:0011891 "febrile seizures, familial, 8" 3 http://identifiers.org/hgnc/10683 "SDHD" 1 NCBITaxon:169440 "Coelopidae" 1 -MONDO:0009829 "pallidal degeneration, progressive, with retinitis pigmentosa" 1 MONDO:0014285 "congenital dyserythropoietic anemia type type 1B" 1 MONDO:0009061 "cystic fibrosis" 2 GO:0070561 "vitamin D receptor signaling pathway" 1 @@ -33011,7 +32959,7 @@ http://identifiers.org/hgnc/4081 "GABRB1" 1 http://identifiers.org/hgnc/11079 "SLC9A6" 1 MONDO:0004131 "anal verrucous carcinoma" 3 MONDO:0009179 "recessive dystrophic epidermolysis bullosa" 1 -MONDO:0025514 "livedoid vasculopathy" 3 +MONDO:0025514 "livedoid vasculopathy" 2 MONDO:0000670 "cortical deafness" 1 NCBITaxon:51028 "Enterobius vermicularis" 1 FOODON:03411041 "chemical food component"@en 1 @@ -33068,7 +33016,6 @@ MONDO:0010033 "generalized peeling skin syndrome" 1 http://identifiers.org/hgnc/20778 "TUBB" 1 MONDO:0030525 "epidermolysis bullosa simplex 2B, generalized intermediate" 1 CHR:9606-chr3q2 "3q2 (Human)" 1 -MONDO:0026768 "warfarin sensitivity, X-linked" 1 MONDO:0003287 "central nervous system leiomyoma" 2 UBERON:0010400 "spleen trabecular vein" 1 MONDO:0010972 "hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome" 1 @@ -33179,7 +33126,7 @@ http://identifiers.org/hgnc/4083 "GABRB3" 1 MONDO:0014593 "developmental and epileptic encephalopathy, 29" 2 MONDO:0012474 "autosomal dominant nocturnal frontal lobe epilepsy 4" 2 http://identifiers.org/hgnc/12605 "CLRN1" 1 -MONDO:0015724 "non-distal trisomy 13q" 2 +MONDO:0015724 "non-distal trisomy 13q" 1 GO:0047865 "dimethylglycine dehydrogenase activity" 1 MONDO:0008514 "syndactyly type 3" 1 http://identifiers.org/hgnc/188 "ADAM10" 1 @@ -33189,7 +33136,7 @@ HP:0000726 "Dementia" 1 MONDO:0032835 "spondyloepiphyseal dysplasia, nishimura type" 2 UBERON:0035048 "parotid gland excretory duct" 1 UBERON:0001480 "proximal carpal bone" 3 -MONDO:0005275 "lung disorder" 2 +MONDO:0005275 "lung disorder" 1 NCBITaxon:92088 "Trombiculoidea" 1 NCBITaxon:8006 "Salmoniformes" 1 UBERON:0000402 "nasal vestibule" 1 @@ -33283,7 +33230,7 @@ UBERON:0003277 "skeleton of upper jaw" 1 MONDO:0023196 "frontonasal malformation cloacal exstrophy" 1 MONDO:0033547 "Li-Ghorbani-Weisz-Hubshman syndrome" 1 NCBITaxon:81852 "Enterococcaceae" 1 -MONDO:0004862 "vitreous abscess" 2 +MONDO:0004862 "vitreous abscess" 3 GO:0032060 "bleb assembly" 1 MONDO:0008532 "teeth present at birth" 1 http://identifiers.org/hgnc/16732 "MCEE" 1 @@ -33456,7 +33403,7 @@ GO:0046541 "saliva secretion" 3 MONDO:0004261 "periductal breast myoepitheliosis" 1 MONDO:0016557 "leukonychia totalis" 1 GO:0043388 "positive regulation of DNA binding" 2 -MONDO:0003067 "cervical lymphadenitis" 2 +MONDO:0003067 "cervical lymphadenitis" 1 UBERON:0006562 "pharynx" 1 http://identifiers.org/hgnc/1393 "CACNA1F" 1 http://identifiers.org/hgnc/1394 "CACNA1G" 1 @@ -33660,7 +33607,7 @@ MONDO:0011016 "type 1 diabetes mellitus 11" 1 MONDO:0015021 "hypotonia, ataxia, and delayed development syndrome" 1 CL:0000300 "gamete" 2 BFO:0000141 "immaterial entity"@en 1 -MONDO:0011984 "synpolydactyly type 2" 2 +MONDO:0011984 "synpolydactyly type 2" 1 MONDO:0030457 "immunodeficiency 87 and autoimmunity" 1 GO:0070132 "regulation of mitochondrial translational initiation" 2 MONDO:0007708 "Kasabach-Merritt syndrome" 1 @@ -33935,7 +33882,7 @@ MONDO:0017197 "osteopathia striata-pigmentary dermopathy-white forelock syndrome MONDO:0008883 "brachydactyly, type A2, with microcephaly" 1 HP:0002653 "Bone pain" 2 http://identifiers.org/hgnc/8607 "PRKN" 1 -MONDO:0019905 "ring chromosome 9" 3 +MONDO:0019905 "ring chromosome 9" 2 GO:0071738 "IgD immunoglobulin complex" 1 MONDO:0003265 "adjustment disorder" 1 http://identifiers.org/hgnc/1943 "CHN1" 1 @@ -34397,7 +34344,7 @@ GO:2000113 "negative regulation of cellular macromolecule biosynthetic process" MONDO:0010057 "spinal muscular atrophy, Ryukyuan type" 1 GO:0009110 "vitamin biosynthetic process" 3 MONDO:0013310 "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency" 4 -MONDO:0001481 "femoral vein thrombophlebitis" 2 +MONDO:0001481 "femoral vein thrombophlebitis" 1 MONDO:0013542 "Moyamoya disease 5" 1 MONDO:0010654 "Partington syndrome" 2 MONDO:0012240 "nemaline myopathy 4" 3 @@ -34443,7 +34390,7 @@ UBERON:0005005 "mucosa of left ureter" 1 UBERON:0005410 "cartilaginous otic capsule" 2 MONDO:0012459 "hypertension, essential, susceptibility to, 6" 1 UBERON:0004792 "secretion of endocrine pancreas" 1 -MONDO:0002941 "anal margin carcinoma" 3 +MONDO:0002941 "anal margin carcinoma" 2 MONDO:0043133 "microcephaly micropenis convulsions" 1 UBERON:2001626 "premaxillary tooth" 1 http://identifiers.org/hgnc/15804 "OVOL2" 1 @@ -34518,7 +34465,7 @@ UBERON:0002367 "prostate gland" 2 MONDO:0006842 "lymphangiomyoma" 1 MONDO:0100370 "acute hepatitis B virus infection" 2 UBERON:0034707 "differentiating neuroepithelium" 1 -MONDO:0006759 "femoral neuropathy" 3 +MONDO:0006759 "femoral neuropathy" 2 MONDO:0018436 "megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)" 1 http://identifiers.org/hgnc/5012 "HMMR" 1 MONDO:0013085 "neuroblastoma, susceptibility to, 5" 1 @@ -34550,7 +34497,6 @@ MONDO:0007735 "congenital Horner syndrome" 1 UBERON:0001943 "midbrain tegmentum" 1 MONDO:0003819 "childhood teratoma of the ovary" 2 MONDO:0010025 "short stature-obesity syndrome" 1 -MONDO:0020055 "autosomal uniparental disomy" 1 GO:0030030 "cell projection organization" 1 MONDO:0100443 "RDH5-related retinopathy" 1 MONDO:0013975 "ectodermal dysplasia 7, hair/nail type" 1 @@ -34562,7 +34508,7 @@ MONDO:0004398 "mediastinal schwannoma" 5 UBERON:0005212 "Leydig cell region of testis" 2 ENVO:01000254 "environmental system" 1 MONDO:0014203 "primary ciliary dyskinesia 25" 1 -MONDO:0003749 "esophageal disorder" 3 +MONDO:0003749 "esophageal disorder" 2 MONDO:0015412 "median facial cleft" 1 MONDO:0030925 "oocyte maturation defect 10" 1 CL:0009066 "stratified squamous epithelial cell of anal canal" 1 @@ -35404,13 +35350,11 @@ MONDO:0004294 "gestational ovarian choriocarcinoma" 3 MONDO:0002409 "auditory system disorder" 1 MONDO:0033818 "Terrien marginal degeneration" 1 MONDO:0017851 "erythrokeratodermia variabilis" 3 -MONDO:0000651 "thoracic disorder" 1 http://identifiers.org/hgnc/7518 "MUC7" 1 UBERON:0000174 "excreta" 1 MONDO:0007920 "lymphatic malformation 5" 4 CHEBI:33247 "organic group" 2 GO:0018549 "methanethiol oxidase activity" 1 -MONDO:0008548 "theophylline Biotransformation" 1 UBERON:2001364 "hemal spine" 2 MONDO:0030522 "spermatogenic failure 64" 1 http://identifiers.org/hgnc/6490 "LAMB3" 1 @@ -35446,6 +35390,7 @@ MONDO:0006509 "papillary carcinoma" 2 HP:0002410 "Aqueductal stenosis" 1 MONDO:0011084 "psoriasis 3, susceptibility to" 1 GO:0006563 "L-serine metabolic process" 1 +MONDO:0100489 "Graves disease, susceptibility to, 1" 1 MONDO:0002626 "spinal accessory nerve neoplasm" 2 UBERON:0002371 "bone marrow" 1 MONDO:0016703 "anaplastic oligoastrocytoma" 3 @@ -35725,11 +35670,12 @@ MONDO:0001451 "peripheral retinal degeneration" 1 MONDO:0011835 "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis" 5 MONDO:0014860 "polycystic liver disease 2" 1 MONDO:0020119 "X-linked syndromic intellectual disability" 2 +MONDO:0003778 "inborn errors of immunity" 1 MONDO:0005147 "type 1 diabetes mellitus" 3 UBERON:0034908 "scapular muscle" 1 NCBITaxon:31286 "Trypanosoma brucei rhodesiense" 1 UBERON:0004535 "cardiovascular system" 2 -MONDO:0015779 "45,X/46,XY mixed gonadal dysgenesis" 7 +MONDO:0015779 "45,X/46,XY mixed gonadal dysgenesis" 3 HP:0012219 "Erythema nodosum" 1 UBERON:0001043 "esophagus" 3 MONDO:0044619 "propylthiouracil embryofetopathy" 2 @@ -35789,7 +35735,6 @@ MONDO:0005790 "hepatitis A virus infection" 1 http://identifiers.org/hgnc/7981 "NR4A2" 1 http://identifiers.org/hgnc/7982 "NR4A3" 1 http://identifiers.org/hgnc/4699 "GYG1" 1 -MONDO:0017002 "polysomy of X chromosome" 1 CL:1000435 "epithelial cell of lacrimal duct" 1 MONDO:0024555 "megalencephalic leukoencephalopathy with subcortical cysts 1" 1 MONDO:0015692 "refractory anemia with excess blasts in transformation" 2 @@ -35833,7 +35778,7 @@ MONDO:0008171 "nephrolithiasis" 2 NCBITaxon:33758 "Echovirus" 1 CL:1000285 "smooth muscle cell of sigmoid colon" 1 MONDO:0016981 "infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome" 3 -MONDO:0015443 "chromosome 8-derived supernumerary ring/marker" 3 +MONDO:0015443 "chromosome 8-derived supernumerary ring/marker" 2 UBERON:0000341 "throat" 1 http://identifiers.org/hgnc/118 "ACO2" 1 GO:0008066 "glutamate receptor activity" 1 @@ -35889,7 +35834,6 @@ GO:0001990 "regulation of systemic arterial blood pressure by hormone" 2 UBERON:0004378 "proximal metaphysis" 1 http://identifiers.org/hgnc/2770 "DES" 1 MONDO:0033187 "combined oxidative phosphorylation defect type 29" 3 -MONDO:0013538 "alpha-2-macroglobulin deficiency" 1 MONDO:0010216 "xeroderma pigmentosum group G" 3 MONDO:0015145 "neurovascular malformation" 1 UBERON:0001685 "hyoid bone" 2 @@ -36019,7 +35963,6 @@ MONDO:0009913 "prune belly syndrome with pulmonic stenosis, intellectual disabil MONDO:0018869 "cobblestone lissencephaly" 1 MONDO:0013857 "alar cleft, isolated" 1 MONDO:0006983 "subclavian steal syndrome" 2 -MONDO:0008405 "scapula, contour of vertebral border of" 1 MONDO:0009968 "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss" 1 UBERON:0003422 "mesenchyme of umbilical cord" 2 MONDO:0032913 "congenital heart defects, multiple types, 7" 1 @@ -36155,10 +36098,10 @@ GO:0030054 "cell junction" 1 http://identifiers.org/hgnc/6860 "MAP3K8" 1 MONDO:0004440 "pineal region meningioma" 2 MONDO:0008605 "triphalangeal thumb, Nonopposable" 1 -MONDO:0016873 "partial deletion of chromosome 8" 3 +MONDO:0016873 "partial deletion of chromosome 8" 2 CL:0008028 "visual system neuron" 1 UBERON:4000013 "mineralized skeletal tissue" 1 -MONDO:0016874 "partial deletion of chromosome 9" 3 +MONDO:0016874 "partial deletion of chromosome 9" 2 MONDO:0003061 "benign muscle neoplasm" 2 ENVO:01000323 "atmospheric boundary layer" 2 UBERON:0000333 "intestinal gland" 1 @@ -36326,7 +36269,6 @@ MONDO:0006327 "ocular sebaceous carcinoma" 2 GO:0090357 "regulation of tryptophan metabolic process" 1 http://identifiers.org/hgnc/11067 "SLC7A9" 1 GO:0006816 "calcium ion transport" 1 -MONDO:0020050 "autosomal trisomy" 1 CHR:9606-chr5p1 "5p1 (Human)" 1 MONDO:0600005 "venom allergy" 1 http://identifiers.org/hgnc/11065 "SLC7A7" 1 @@ -36394,7 +36336,6 @@ http://identifiers.org/hgnc/6716 "LTBP3" 1 CHEBI:58945 "organophosphate oxoanion" 2 UBERON:0006929 "glandular columnar epithelium" 2 CP:0000043 "cartwheel heterochromatin" 1 -MONDO:0007645 "gastric sneezing" 1 GO:0008037 "cell recognition" 1 MONDO:0010221 "CHIME syndrome" 11 MONDO:0002880 "ovarian adenosarcoma" 2 @@ -36452,7 +36393,7 @@ MONDO:0014821 "complex lethal osteochondrodysplasia" 2 HP:0000421 "Epistaxis" 2 MONDO:0006841 "lymphangioendothelioma" 1 FOODON:00003402 "pre-harvest food material"@en 1 -MONDO:0020469 "48,XYYY syndrome" 8 +MONDO:0020469 "48,XYYY syndrome" 7 UBERON:0006742 "canthus" 1 MONDO:0013873 "IMAGe syndrome" 2 HP:0002257 "Chronic rhinitis" 1 @@ -36494,7 +36435,6 @@ MONDO:0015094 "subependymal nodular heterotopia" 1 MONDO:0001971 "farmer's lung disease" 2 MONDO:0006680 "blue nevus" 1 MONDO:0100366 "occupational disorder" 1 -MONDO:0017412 "2q31.1 microduplication syndrome" 1 MONDO:0030503 "cholestasis, progressive familial intrahepatic, 7, with or without hearing loss" 1 UBERON:0010709 "pelvic complex" 1 UBERON:0005732 "paired limb/fin field" 3 @@ -36705,7 +36645,6 @@ MONDO:0022729 "chondrodysplasia punctata with steroid sulfatase deficiency" 1 MONDO:0006612 "steroid lipomatosis" 1 UBERON:0004862 "left lung alveolus" 1 MONDO:0007799 "hypophosphatemic bone disease" 1 -MONDO:0018983 "tolosa-Hunt syndrome" 3 UBERON:0003301 "roof plate of diencephalon" 1 MONDO:0100116 "Middle East respiratory syndrome" 2 UBERON:0022297 "palpebral branch of infra-orbital nerve" 2 @@ -36763,7 +36702,7 @@ CHR:9606-chr11q "11q (Human)" 1 GO:0010892 "positive regulation of mitochondrial translation in response to stress" 2 MONDO:0020532 "spirillary rat-bite fever" 2 MONDO:0016536 "autosomal recessive lymphoproliferative disease" 2 -MONDO:0019994 "maternal uniparental disomy of chromosome 13" 3 +MONDO:0019994 "maternal uniparental disomy of chromosome 13" 2 MONDO:0002261 "keratopathy" 1 GO:0000323 "lytic vacuole" 1 GO:0046649 "lymphocyte activation" 1 @@ -36793,6 +36732,7 @@ MONDO:0018782 "type 1 interferonopathy" 1 http://identifiers.org/hgnc/3600 "FBLN1" 1 NCBITaxon:29171 "Dictyocaulus" 1 MONDO:0010481 "angioedema" 2 +MONDO:0014320 "Bosch-Boonstra-Schaaf optic atrophy syndrome" 3 MONDO:0006653 "anthracosilicosis" 1 MONDO:0014692 "retinitis pigmentosa 74" 1 MONDO:0005391 "restless legs syndrome" 1 @@ -36834,7 +36774,7 @@ http://identifiers.org/hgnc/9039 "PLA2G6" 1 http://identifiers.org/hgnc/3602 "FBLN5" 1 http://identifiers.org/hgnc/9038 "PLA2G5" 1 MONDO:0013801 "developmental and epileptic encephalopathy, 13" 2 -MONDO:0043452 "chromosome 8, trisomy" 3 +MONDO:0043452 "chromosome 8, trisomy" 2 MONDO:0020317 "acute myeloid leukemia with 11q23 abnormalities" 1 GO:0045911 "positive regulation of DNA recombination" 2 UBERON:0029503 "sacral spinal cord gray matter" 1 @@ -36857,10 +36797,10 @@ UBERON:0000171 "respiration organ" 1 GO:0030258 "lipid modification" 1 UBERON:0008115 "surface of cartilage" 1 MONDO:0024539 "choroidal dystrophy, central areolar, 1" 3 -MONDO:0016871 "partial deletion of chromosome 6" 3 +MONDO:0016871 "partial deletion of chromosome 6" 2 UBERON:0003837 "thoracic segment connective tissue" 1 UBERON:0003066 "pharyngeal arch 2" 1 -MONDO:0016872 "partial deletion of chromosome 7" 3 +MONDO:0016872 "partial deletion of chromosome 7" 2 MONDO:0013468 "retinitis pigmentosa 59" 1 GO:0042322 "negative regulation of circadian sleep/wake cycle, REM sleep" 2 MONDO:0005768 "gastrointestinal tuberculosis" 2 @@ -37249,8 +37189,9 @@ UBERON:0003448 "manus nerve" 1 MONDO:0008827 "progressive pseudorheumatoid arthropathy of childhood" 2 UBERON:0003596 "ankle connective tissue" 1 SO:0000655 "ncRNA" 1 -MONDO:0005586 "head and neck neoplasm" 2 +MONDO:0005586 "head and neck neoplasm" 1 MONDO:0008623 "Undritz anomaly" 1 +MONDO:8000024 "autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD" 1 CL:1001603 "lung macrophage" 1 UBERON:0005130 "metanephric loop of Henle" 2 UBERON:0022296 "inferior palpebral branch of infra-orbital nerve" 2 @@ -37615,7 +37556,7 @@ MONDO:0009598 "metaphyseal chondrodysplasia-retinitis pigmentosa syndrome" 2 MONDO:0003298 "vulvar leiomyoma" 2 GO:0009968 "negative regulation of signal transduction" 4 GO:1903379 "regulation of mitotic chromosome condensation" 2 -MONDO:0004528 "lymph node palisaded myofibroblastoma" 3 +MONDO:0004528 "lymph node palisaded myofibroblastoma" 2 MONDO:0012364 "dilated cardiomyopathy 1Q" 1 UBERON:0007105 "vitelline duct" 1 UBERON:0007267 "trachea pre-cartilage rings" 2 @@ -37697,7 +37638,6 @@ MONDO:0013665 "epilepsy, juvenile myoclonic, susceptibility to, 9" 1 GO:0002695 "negative regulation of leukocyte activation" 3 http://identifiers.org/hgnc/28249 "PHYKPL" 1 MONDO:0017720 "GM2 gangliosidosis" 3 -MONDO:0014253 "autoimmune lymphoproliferative syndrome type 3" 1 UBERON:0001621 "coronary artery" 2 UBERON:0013501 "cloacal sphincter" 2 NCBITaxon:1717 "Corynebacterium diphtheriae" 1 @@ -37847,7 +37787,7 @@ SO:0002121 "vertebrate_immune_system_gene" 1 MONDO:0021289 "carcinoma in situ of cecum" 2 MONDO:0014169 "dyschromatosis universalis hereditaria 3" 1 MONDO:0010493 "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis" 1 -MONDO:0020303 "Angelman syndrome due to paternal uniparental disomy of chromosome 15" 4 +MONDO:0020303 "Angelman syndrome due to paternal uniparental disomy of chromosome 15" 3 MONDO:0018614 "undetermined early-onset epileptic encephalopathy" 2 MONDO:0004679 "leukoplakia of vagina" 2 http://identifiers.org/hgnc/1067 "BMP1" 1 @@ -38429,7 +38369,7 @@ GO:0060632 "regulation of microtubule-based movement" 2 MONDO:0008137 "orofaciodigital syndrome X" 3 MONDO:0011187 "polydactyly, postaxial, type A2" 1 CL:0009000 "sensory neuron of spinal nerve" 1 -MONDO:0000518 "sacrum chordoma" 3 +MONDO:0000518 "sacrum chordoma" 2 MONDO:0009274 "ghosal hematodiaphyseal dysplasia" 2 ENVO:00000016 "sea" 2 MONDO:0001067 "early yaws" 1 @@ -38719,7 +38659,7 @@ MONDO:0004578 "flat retinoschisis" 1 MONDO:0002385 "benign cystic nephroma" 1 MONDO:0009712 "congenital multicore myopathy with external ophthalmoplegia" 2 MONDO:0006748 "epilepsia partialis continua" 1 -MONDO:0021579 "neoplasm of femur" 2 +MONDO:0021579 "neoplasm of femur" 1 MONDO:0020205 "bulbar conjunctival dermoid or conjunctival dermolipoma" 1 GO:1990204 "oxidoreductase complex" 1 MONDO:0008044 "myoclonic dystonia 11" 1 @@ -39105,7 +39045,7 @@ UBERON:0007735 "metacarpophalangeal joint of manual digit 1" 1 NCBITaxon:422676 "Aconoidasida" 1 GO:0033685 "negative regulation of luteinizing hormone secretion" 2 UBERON:0001236 "adrenal medulla" 2 -MONDO:0004649 "anaerobic pneumonia" 3 +MONDO:0004649 "anaerobic pneumonia" 2 GO:0051462 "regulation of cortisol secretion" 1 MONDO:0007268 "hypertrophic cardiomyopathy 4" 1 MONDO:0010344 "intellectual disability, X-linked 45" 1 @@ -39173,7 +39113,7 @@ MONDO:0005928 "post-thrombotic syndrome" 1 MONDO:0012437 "cataract 21 multiple types" 1 MONDO:0005063 "medullary breast carcinoma" 1 UBERON:8410044 "vein of appendix" 1 -MONDO:0000516 "phalanx chondroma" 3 +MONDO:0000516 "phalanx chondroma" 2 http://identifiers.org/hgnc/21869 "AGK" 1 NCBITaxon:10407 "Hepatitis B virus" 1 MONDO:0041903 "gonococcal infection of joint" 2 @@ -39262,7 +39202,6 @@ NCBITaxon:29930 "Ixodes pacificus" 1 UBERON:0001028 "diaphysis of radius" 1 CHR:9606-chr14 "chromosome 14 (Human)" 3 http://identifiers.org/hgnc/4389 "GNAO1" 1 -MONDO:0016998 "complex chromosomal rearrangement" 1 GO:0001802 "type III hypersensitivity" 3 CL:2000092 "hair follicular keratinocyte" 2 CL:0009019 "nephrogenic zone cell" 1 @@ -39433,7 +39372,7 @@ UBERON:0002521 "elastic tissue" 1 MONDO:0014728 "combined oxidative phosphorylation defect type 27" 2 CL:0000333 "migratory neural crest cell" 3 MONDO:0025986 "megacystis-microcolon-intestinal hypoperistalsis syndrome" 4 -MONDO:0009386 "hyperlexia" 1 +MONDO:0009386 "hyperlexia" 2 MONDO:0020159 "congenital entropion" 2 UBERON:0001636 "posterior cerebral artery" 3 CHEBI:30099 "diazynediium" 1 @@ -39475,7 +39414,6 @@ MONDO:0002913 "cerebellar neoplasm" 2 http://identifiers.org/hgnc/10936 "SLC18A3" 1 HP:0011842 "Abnormality of skeletal morphology" 1 http://identifiers.org/hgnc/21191 "DAOA" 1 -MONDO:0009553 "Plasmodium falciparum blood infection level" 1 MONDO:0016052 "atypical autism" 1 GO:0032350 "regulation of hormone metabolic process" 2 http://identifiers.org/hgnc/30500 "PRRT2" 1 @@ -39823,7 +39761,7 @@ MONDO:0043589 "femoral neck fracture" 1 http://identifiers.org/hgnc/13487 "VPS35" 1 MONDO:0015826 "autosomal dominant spondylocostal dysostosis" 2 MONDO:0017666 "diffuse palmoplantar keratoderma" 1 -MONDO:0005267 "heart disorder" 2 +MONDO:0005267 "heart disorder" 1 MONDO:0016996 "NK-cell enteropathy" 1 MONDO:0100090 "congenital alveolar dysplasia due to FGF10" 2 MONDO:0015568 "isolated congenital nasal pyriform aperture stenosis" 1 @@ -39931,7 +39869,6 @@ MONDO:0017900 "autosomal recessive mendelian susceptibility to mycobacterial dis MONDO:0010817 "autosomal dominant nonsyndromic hearing loss 2A" 1 MONDO:0018326 "transient neonatal myasthenia gravis" 2 MONDO:0020478 "Leber plus disease" 3 -MONDO:0020057 "uniparental disomy of paternal origin" 1 MONDO:0008722 "short chain acyl-CoA dehydrogenase deficiency" 2 MONDO:0008580 "toes, space between first and second" 1 MONDO:0016169 "chronic acquired demyelinating polyneuropathy" 1 @@ -39952,7 +39889,7 @@ UBERON:0000485 "simple columnar epithelium" 2 MONDO:0009783 "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1" 2 UBERON:0009671 "nasal fin" 2 ENVO:02500003 "atmospheric process"@en 1 -MONDO:0016870 "partial deletion of chromosome 5" 3 +MONDO:0016870 "partial deletion of chromosome 5" 2 GO:0034644 "cellular response to UV" 2 MONDO:0030514 "leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy" 1 NCBITaxon:201174 "Actinobacteria" 1 @@ -40039,7 +39976,7 @@ NCBITaxon:42113 "Clitellata" 1 MONDO:0022557 "behrens baumann dust syndrome" 3 MONDO:0017089 "isolated megalencephaly" 3 UBERON:0016511 "lamina propria of fundus of stomach" 1 -MONDO:0016866 "partial deletion of chromosome 1" 3 +MONDO:0016866 "partial deletion of chromosome 1" 2 MONDO:0020242 "genetic macular dystrophy" 1 MONDO:0010547 "X-linked progressive cerebellar ataxia" 2 GO:0034284 "response to monosaccharide" 1 @@ -40141,7 +40078,7 @@ GO:0042470 "melanosome" 1 MONDO:0011607 "narcolepsy 2, susceptibility to" 1 MONDO:0014354 "intellectual disability, autosomal recessive 43" 1 http://identifiers.org/hgnc/7108 "MKKS" 1 -MONDO:0011035 "neurofibromatosis-Noonan syndrome" 4 +MONDO:0011035 "neurofibromatosis-Noonan syndrome" 5 NCBITaxon:12092 "Hepatovirus A" 1 MONDO:0020673 "arterial occlusion" 2 MONDO:0006463 "thyroid gland mucoepidermoid carcinoma" 2 @@ -40195,7 +40132,7 @@ UBERON:0003288 "meninx of midbrain" 1 CHEBI:25698 "ether" 1 MONDO:0003643 "giant hemangioma" 1 MONDO:0011246 "megaconial type congenital muscular dystrophy" 3 -MONDO:0016869 "partial deletion of chromosome 4" 3 +MONDO:0016869 "partial deletion of chromosome 4" 2 MONDO:0032750 "arthrogryposis, distal, type 2B2" 2 http://identifiers.org/hgnc/21484 "MCM9" 1 MONDO:0014334 "severe combined immunodeficiency due to LCK deficiency" 1 @@ -40254,7 +40191,7 @@ GO:1901374 "acetate ester transport" 1 HP:0000130 "Abnormality of the uterus" 1 HP:0001927 "Acanthocytosis" 1 MONDO:0005527 "toxic encephalopathy" 1 -MONDO:0016867 "partial deletion of chromosome 2" 3 +MONDO:0016867 "partial deletion of chromosome 2" 2 UBERON:0005036 "mucosa of main bronchus" 1 MONDO:0032651 "fibrosis, neurodegeneration, and cerebral angiomatosis" 1 UBERON:0001555 "digestive tract" 1 @@ -40292,7 +40229,7 @@ http://identifiers.org/hgnc/4056 "G6PC1" 1 MONDO:0010765 "46,XY complete gonadal dysgenesis" 3 http://identifiers.org/hgnc/21478 "RFX6" 1 UBERON:0004119 "endoderm-derived structure" 1 -MONDO:0016868 "partial deletion of chromosome 3" 3 +MONDO:0016868 "partial deletion of chromosome 3" 2 MONDO:0002656 "skin carcinoma" 3 MONDO:0032697 "neurodevelopmental disorder and language delay with or without structural brain abnormalities" 2 MONDO:0100005 "primary mast cell activation syndrome" 1 @@ -40342,6 +40279,7 @@ http://identifiers.org/hgnc/9155 "PNLIP" 1 http://identifiers.org/hgnc/9359 "SLC26A5" 1 GO:0045321 "leukocyte activation" 2 MONDO:0020133 "posterior fossa malformation" 1 +MONDO:0100488 "CDH1-related diffuse gastric and lobular breast cancer" 1 UBERON:0004461 "skeletal musculature of head" 1 MONDO:0011720 "spermatogenic failure 3" 2 MONDO:0010058 "scapuloperoneal spinal muscular atrophy, autosomal recessive" 3 @@ -40453,12 +40391,10 @@ MONDO:0016147 "qualitative or quantitative defects of dystrophin" 1 UBERON:0004667 "interventricular septum muscular part" 1 MONDO:0018941 "furuncular myiasis" 1 http://identifiers.org/hgnc/8965 "PIGK" 1 -MONDO:0014826 "nucleoside diphosphate-linked moiety X Motif 15 deficiency" 1 http://identifiers.org/hgnc/8966 "PIGL" 1 MONDO:0003764 "pediatric leptomeningeal melanoma" 3 MONDO:0018092 "Vogt-Koyanagi-Harada disease" 2 MONDO:0002654 "uterine disorder" 1 -MONDO:0007317 "chlorpropamide-alcohol flushing" 1 UBERON:0010399 "spleen trabecular artery" 2 HP:0000032 "Abnormality of male external genitalia" 2 MONDO:0014569 "lethal congenital contracture syndrome 7" 2 @@ -40529,7 +40465,6 @@ MONDO:0013252 "Warsaw breakage syndrome" 1 NCBITaxon:52281 "Sarcoptidae" 1 http://identifiers.org/hgnc/1090 "DST" 1 http://identifiers.org/hgnc/443 "ALS2" 1 -MONDO:0009930 "pulmonary arteriovenous malformation" 2 CHEBI:51422 "organodiyl group" 1 UBERON:0012084 "lumen of secondary bronchus" 1 MONDO:0008840 "ataxia telangiectasia" 8 @@ -40573,7 +40508,7 @@ MONDO:0020482 "myotonia permanens" 1 MONDO:0008081 "neurofibromatosis, type IV, of Riccardi" 1 MONDO:0012405 "polyposis syndrome, hereditary mixed, 2" 1 MONDO:0002202 "outlet dysfunction constipation" 1 -MONDO:0015607 "partial chromosome Y deletion" 5 +MONDO:0015607 "partial chromosome Y deletion" 4 MONDO:0005957 "setariasis" 2 http://identifiers.org/hgnc/15574 "RB1CC1" 1 MONDO:0008189 "papillomatosis, florid, of nipple" 1 @@ -40586,7 +40521,7 @@ http://identifiers.org/hgnc/11811 "KLF11" 1 MONDO:0017138 "Opitz G/BBB syndrome" 6 MONDO:0008092 "hereditary neutrophilia" 2 UBERON:0001673 "central retinal vein" 2 -MONDO:0002807 "bronchial neoplasm" 3 +MONDO:0002807 "bronchial neoplasm" 2 NCBITaxon:715340 "Pleosporineae" 1 MONDO:0017226 "Pelizaeus-Merzbacher-like disease" 1 UBERON:0006283 "future cardiac ventricle" 1 @@ -40637,7 +40572,6 @@ MONDO:0009246 "Friedreich ataxia and congenital glaucoma" 1 http://identifiers.org/hgnc/5466 "IGF2" 1 MONDO:0008967 "congenital bile acid synthesis defect 4" 3 GO:0009888 "tissue development" 1 -MONDO:0700130 "partial Trisomy 21" 2 UBERON:7500062 "tibial tuberosity" 2 MONDO:0020808 "testicular sertoli cell tumor" 2 UBERON:0001359 "cerebrospinal fluid" 1 @@ -40679,7 +40613,7 @@ MONDO:0044203 "foveal hypoplasia" 1 HP:0004566 "Pear-shaped vertebrae" 1 MONDO:0000815 "fetal nicotine spectrum disorder" 1 HP:0001331 "Absent septum pellucidum" 1 -MONDO:0043759 "abdominal ectopic pregnancy" 2 +MONDO:0043759 "abdominal ectopic pregnancy" 1 UBERON:0003318 "mesenchyme of elbow" 1 MONDO:0020947 "parasitic eye infection" 2 MONDO:0004404 "refractory precursor T-lymphoblastic lymphoma/leukemia" 2 @@ -40856,6 +40790,7 @@ UBERON:0005339 "outflow tract pulmonary component" 1 MONDO:0017773 "hypoalphalipoproteinemia" 1 UBERON:0000349 "limbic system" 1 MONDO:0019335 "mild hyperphenylalaninemia" 1 +MONDO:0008791 "anencephaly 1" 5 HP:0000155 "Oral ulcer" 1 MONDO:0022468 "antigen-peptide-transporter 2 deficiency" 1 MONDO:0014237 "autosomal recessive nonsyndromic hearing loss 76" 1 @@ -40889,7 +40824,7 @@ PATO:0000387 "soft" 2 MONDO:0033560 "mitochondrial complex 1 deficiency, nuclear type 35" 1 MONDO:0017183 "hyperinsulinism due to UCP2 deficiency" 1 HP:0001320 "Cerebellar vermis hypoplasia" 2 -MONDO:0006823 "Klinefelter syndrome" 8 +MONDO:0006823 "Klinefelter syndrome" 7 MONDO:0021083 "congenital fibrosis of extraocular muscles type 1" 2 MONDO:0005323 "bacterial sexually transmitted disease" 2 NCBITaxon:171549 "Bacteroidales" 1 diff --git a/reports/synonyms.tsv b/reports/synonyms.tsv index ca295f966e..263f6178f6 100644 --- a/reports/synonyms.tsv +++ b/reports/synonyms.tsv @@ -34,9 +34,9 @@ MFOMD:0000004 rdfs:label "mental disorder" MONDO:0021327 rdfs:label "carcinoma of urethra" CHEBI:50511 rdfs:label "bipyridines" MONDO:0021503 rdfs:label "benign neoplasm of gallbladder" -MONDO:0018691 rdfs:label "obsolete endometrioid carcinoma of ovary" http://identifiers.org/hgnc/2638 rdfs:label "CYP3A5" GO:0045921 rdfs:label "positive regulation of exocytosis" +MONDO:0018691 rdfs:label "obsolete endometrioid carcinoma of ovary" MONDO:0003687 rdfs:label "endocardium cancer" MONDO:0016110 rdfs:label "non-dystrophic myopathy" http://identifiers.org/hgnc/4838 rdfs:label "SERPIND1" @@ -115,11 +115,11 @@ GO:0033685 rdfs:label "negative regulation of luteinizing hormone secretion" MONDO:0005746 rdfs:label "enterobiasis" CHEBI:35692 rdfs:label "dicarboxylic acid" MONDO:0021495 rdfs:label "benign neoplasm of sublingual gland" -MONDO:0021148 rdfs:label "female reproductive system neoplasm" GO:0140238 rdfs:label "presynaptic endocytosis" CHEBI:15036 rdfs:label "retinoate" MONDO:0018354 rdfs:label "Prader-Willi-like syndrome" MONDO:0017100 rdfs:label "neutropenia-monocytopenia-deafness syndrome" +MONDO:0021148 rdfs:label "female reproductive system neoplasm" MONDO:0012837 rdfs:label "inflammatory bowel disease 15" CL:0002663 rdfs:label "myocardial endocrine cell of atrium" UBERON:0001606 rdfs:label "muscle of iris" @@ -206,8 +206,8 @@ MONDO:0015329 rdfs:label "obsolete malformation syndrome with short stature" http://identifiers.org/hgnc/28927 rdfs:label "KRT71" http://identifiers.org/hgnc/1908 rdfs:label "VPS13A" MONDO:0017961 rdfs:label "46,XX disorder of gonadal development" -MONDO:0007340 rdfs:label "cleidocranial dysplasia" GO:0031335 rdfs:label "regulation of sulfur amino acid metabolic process" +MONDO:0007340 rdfs:label "cleidocranial dysplasia" NCBITaxon:27592 rdfs:label "Bovinae" PO:0000018 rdfs:label "ovule primordium" MONDO:0020747 rdfs:label "sitosterolemia 1" @@ -307,8 +307,8 @@ MONDO:0006901 rdfs:label "peritoneal neoplasm" MONDO:0012998 rdfs:label "faciocardiomelic syndrome" NCBITaxon:1980519 rdfs:label "Crimean-Congo hemorrhagic fever orthonairovirus" MONDO:0002652 rdfs:label "anus adenocarcinoma" -MONDO:0044207 rdfs:label "specific granule deficiency 1" MONDO:0011606 rdfs:label "baby rattle pelvis dysplasia" +MONDO:0044207 rdfs:label "specific granule deficiency 1" MONDO:0022650 rdfs:label "cardiomyopathy diabetes deafness" http://identifiers.org/hgnc/11849 rdfs:label "TLR3" UBERON:0002052 rdfs:label "adrenal gland capsule" @@ -329,8 +329,8 @@ MONDO:0010847 rdfs:label "spinocerebellar ataxia type 4" http://identifiers.org/hgnc/25360 rdfs:label "DDX59" UBERON:0001816 rdfs:label "autonomic nerve plexus" MONDO:0013294 rdfs:label "atopic dermatitis 8" -MONDO:0013470 rdfs:label "generalized epilepsy with febrile seizures plus, type 7" HP:0003473 rdfs:label "Fatigable weakness" +MONDO:0013470 rdfs:label "generalized epilepsy with febrile seizures plus, type 7" MONDO:0100112 rdfs:label "acyl-CoA binding domain containing protein 5 deficiency" MONDO:0041095 rdfs:label "malignant otitis externa caused by Pseudomonas aeruginosa" MONDO:0023232 rdfs:label "giant cell myocarditis" @@ -383,8 +383,8 @@ MONDO:0007249 rdfs:label "camptobrachydactyly" MONDO:0018816 rdfs:label "isolated neonatal sclerosing cholangitis" MONDO:0016655 rdfs:label "6p22 microdeletion syndrome" MONDO:0011427 rdfs:label "Ascaris lumbricoides infection, susceptibility to" -ECTO:9000019 rdfs:label "exposure to acetic acid" GO:1905332 rdfs:label "positive regulation of morphogenesis of an epithelium" +ECTO:9000019 rdfs:label "exposure to acetic acid" MONDO:0006034 rdfs:label "gastric adenosquamous carcinoma" MONDO:0017601 rdfs:label "diffuse large B-cell lymphoma with chronic inflammation" MONDO:0004722 rdfs:label "obsolete Wiskott-Aldrich syndrome" @@ -412,8 +412,8 @@ MONDO:0019426 rdfs:label "X-linked intellectual disability-corpus callosum agene MONDO:0044320 rdfs:label "retinitis pigmentosa 79" MONDO:0024276 rdfs:label "glandular cell neoplasm" MONDO:0005478 rdfs:label "torsades de pointes" -UBERON:0005726 rdfs:label "chemosensory system" MONDO:0003391 rdfs:label "vulvar alveolar soft part sarcoma" +UBERON:0005726 rdfs:label "chemosensory system" UBERON:0001112 rdfs:label "latissimus dorsi muscle" GO:0004634 rdfs:label "phosphopyruvate hydratase activity" CL:0000502 rdfs:label "type D enteroendocrine cell" @@ -460,8 +460,8 @@ GO:0006446 rdfs:label "regulation of translational initiation" MONDO:0017909 rdfs:label "inherited glutathione synthetase deficiency" UBERON:0004240 rdfs:label "gall bladder smooth muscle" MONDO:0019834 rdfs:label "pituitary hormone deficiency from meningeal origin" -UBERON:0005477 rdfs:label "stomach fundus epithelium" MONDO:0014522 rdfs:label "retinal dystrophy and obesity" +UBERON:0005477 rdfs:label "stomach fundus epithelium" http://identifiers.org/hgnc/6158 rdfs:label "ITGB4" GO:0035305 rdfs:label "negative regulation of dephosphorylation" MONDO:0034122 rdfs:label "obsolete NAD(P)HX epimerase deficiency" @@ -472,8 +472,8 @@ MONDO:0021326 rdfs:label "malignant neoplasm of cervical esophagus" CL:0000118 rdfs:label "basket cell" GO:0016042 rdfs:label "lipid catabolic process" ENVO:01000639 rdfs:label "planetary structural layer"@en -MONDO:0032834 rdfs:label "retinitis pigmentosa 86" NCBITaxon:5579 rdfs:label "Aureobasidium" +MONDO:0032834 rdfs:label "retinitis pigmentosa 86" ENVO:01000815 rdfs:label "liquid environmental material"@en MONDO:0009002 rdfs:label "coloboma, ocular, autosomal recessive" MONDO:0030931 rdfs:label "proteasome-associated autoinflammatory syndrome 4" @@ -489,8 +489,8 @@ CHEBI:25806 rdfs:label "oxygen molecular entity" MONDO:0005257 rdfs:label "advanced heart failure" http://identifiers.org/hgnc/3585 rdfs:label "FANCD2" UBERON:4000162 rdfs:label "median fin" -GO:0040008 rdfs:label "regulation of growth" UBERON:0012283 rdfs:label "femoral fat pad" +GO:0040008 rdfs:label "regulation of growth" http://identifiers.org/hgnc/8977 rdfs:label "PIK3CD" MONDO:0012751 rdfs:label "aortic aneurysm, familial abdominal, 3" MONDO:0000979 rdfs:label "pinta disease" @@ -500,11 +500,11 @@ MONDO:0011293 rdfs:label "obsolete Homocysteinemia" GO:0001944 rdfs:label "vasculature development" http://identifiers.org/hgnc/30551 rdfs:label "TXNL4A" MONDO:0008446 rdfs:label "sperm protamine P4" -UBERON:0004934 rdfs:label "submucosa of body of stomach" NCBITaxon:30727 rdfs:label "Cyprinoidei" -http://identifiers.org/hgnc/21033 rdfs:label "HACE1" MONDO:0018511 rdfs:label "epithelial tumor of the appendix" +http://identifiers.org/hgnc/21033 rdfs:label "HACE1" http://identifiers.org/hgnc/33778 rdfs:label "MYMK" +UBERON:0004934 rdfs:label "submucosa of body of stomach" MONDO:0013472 rdfs:label "fatal infantile hypertonic myofibrillar myopathy" MONDO:0017406 rdfs:label "hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome" PATO:0001411 rdfs:label "structured" @@ -516,11 +516,11 @@ CL:0002000 rdfs:label "Kit-positive erythroid progenitor cell" MONDO:0011480 rdfs:label "autosomal dominant nonsyndromic hearing loss 20" NCBITaxon:4892 rdfs:label "Saccharomycetales" MONDO:0018639 rdfs:label "caudal regression-sirenomelia spectrum" -MONDO:0013680 rdfs:label "cognitive impairment with or without cerebellar ataxia" MONDO:0012122 rdfs:label "moyamoya disease 3" CL:0000979 rdfs:label "IgG memory B cell" -MONDO:0002115 rdfs:label "obsolete pancreatic cancer" +MONDO:0013680 rdfs:label "cognitive impairment with or without cerebellar ataxia" CHEBI:26421 rdfs:label "pyridines" +MONDO:0002115 rdfs:label "obsolete pancreatic cancer" NCBITaxon:6181 rdfs:label "Schistosoma" MONDO:0008018 rdfs:label "Muir-Torre syndrome" GO:0010562 rdfs:label "positive regulation of phosphorus metabolic process" @@ -588,8 +588,8 @@ MONDO:0019639 rdfs:label "congenital megacalycosis" http://identifiers.org/hgnc/12731 rdfs:label "WAS" MONDO:0002046 rdfs:label "alcohol abuse" MONDO:0024665 rdfs:label "indeterminate sex and/or pseudohermaphroditism" -UBERON:0003135 rdfs:label "male reproductive organ" MONDO:0013112 rdfs:label "bronchiectasis with or without elevated sweat chloride 3" +UBERON:0003135 rdfs:label "male reproductive organ" CHR:9606-chr19q rdfs:label "19q (Human)" MONDO:0011800 rdfs:label "glioma susceptibility 4" MONDO:0016332 rdfs:label "hypertrophic cardiomyopathy due to intensive athletic training" @@ -598,7 +598,7 @@ http://identifiers.org/hgnc/7609 rdfs:label "MYO9B" MONDO:0009319 rdfs:label "pantothenate kinase-associated neurodegeneration" MONDO:0005422 rdfs:label "obsolete nodular sclerosis Hodgkin lymphoma" MONDO:0006980 rdfs:label "struma ovarii" -MONDO:0007622 rdfs:label "flood factor deficiency" +MONDO:0007622 rdfs:label "obsolete flood factor deficiency" MONDO:0011974 rdfs:label "retinitis pigmentosa 7" HP:0002883 rdfs:label "Hyperventilation" GO:0032042 rdfs:label "mitochondrial DNA metabolic process" @@ -658,10 +658,10 @@ HP:0001941 rdfs:label "Acidosis" MONDO:0004937 rdfs:label "hypervitaminosis D" MONDO:0009551 rdfs:label "magnesium, elevated red cell" http://identifiers.org/hgnc/14103 rdfs:label "ARHGEF10" +OBA:VT0010454 rdfs:label "organism trait" MONDO:0018542 rdfs:label "severe congenital neutropenia" MONDO:0014106 rdfs:label "hypogonadotropic hypogonadism 20 with or without anosmia" CL:0000511 rdfs:label "androgen binding protein secreting cell" -OBA:VT0010454 rdfs:label "organism trait" http://identifiers.org/hgnc/11752 rdfs:label "TFE3" MONDO:0002451 rdfs:label "benign prostate phyllodes tumor" MONDO:0005968 rdfs:label "sporotrichosis" @@ -803,8 +803,8 @@ CHEBI:33720 rdfs:label "carbohydrate acid" MONDO:0009059 rdfs:label "cysteine Peptiduria" MONDO:0030988 rdfs:label "developmental delay with dysmorphic facies and dental anomalies" MONDO:0012408 rdfs:label "microphthalmia, isolated, with coloboma 3" -MONDO:0010156 rdfs:label "Troyer syndrome" MONDO:0054665 rdfs:label "pituitary adenoma 3, multiple types" +MONDO:0010156 rdfs:label "Troyer syndrome" UBERON:0004704 rdfs:label "bone fossa" CHEBI:15705 rdfs:label "L-alpha-amino acid" MONDO:0020221 rdfs:label "obsolete secondary glaucoma due to a proliferation and differentiation anomaly" @@ -822,9 +822,9 @@ MONDO:0009374 rdfs:label "hydroxyprolinemia" UBERON:0006286 rdfs:label "radius cartilage element" GO:0042116 rdfs:label "macrophage activation" MONDO:0017823 rdfs:label "somatomammotropinoma" -MONDO:0021758 rdfs:label "acquired agranulocytosis" http://identifiers.org/hgnc/3334 rdfs:label "EMP2" MONDO:0011597 rdfs:label "atopic dermatitis 3" +MONDO:0021758 rdfs:label "acquired agranulocytosis" http://identifiers.org/hgnc/4892 rdfs:label "HGD" UBERON:0005089 rdfs:label "sweat gland placode" MONDO:0011426 rdfs:label "aceruloplasminemia" @@ -842,8 +842,8 @@ MONDO:0018568 rdfs:label "obsolete COG2-CDG" http://identifiers.org/hgnc/8125 rdfs:label "OGG1" UBERON:0012074 rdfs:label "bony part of hard palate" MONDO:0012999 rdfs:label "guanidinoacetate methyltransferase deficiency" -UBERON:0010336 rdfs:label "mandibular process mesenchyme from neural crest" MONDO:0002653 rdfs:label "Paget disease of the penis" +UBERON:0010336 rdfs:label "mandibular process mesenchyme from neural crest" MONDO:0700062 rdfs:label "mosaic" MONDO:0044208 rdfs:label "specific granule deficiency 2" MONDO:0001262 rdfs:label "African histoplasmosis" @@ -854,8 +854,8 @@ UBERON:0000126 rdfs:label "cranial nerve nucleus" MONDO:0004779 rdfs:label "epididymitis" MONDO:0021945 rdfs:label "hearing disorder" MONDO:0012030 rdfs:label "autosomal dominant nonsyndromic hearing loss 43" -MONDO:0007341 rdfs:label "cleidorhizomelic syndrome" GO:0031336 rdfs:label "negative regulation of sulfur amino acid metabolic process" +MONDO:0007341 rdfs:label "cleidorhizomelic syndrome" UBERON:0017650 rdfs:label "developing mesenchymal structure" SO:1000030 rdfs:label "chromosomal_inversion" MONDO:0013941 rdfs:label "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria" @@ -902,8 +902,8 @@ GO:0044454 rdfs:label "obsolete nuclear chromosome part" ECTO:9001712 rdfs:label "exposure to antiparasitic agent" CHR:9606-chr7q3 rdfs:label "7q3 (Human)" CL:0002079 rdfs:label "pancreatic ductal cell" -http://identifiers.org/hgnc/17935 rdfs:label "CD207" UBERON:0034986 rdfs:label "sacral nerve plexus" +http://identifiers.org/hgnc/17935 rdfs:label "CD207" MONDO:0006622 rdfs:label "vulvar seborrheic keratosis" MONDO:0000988 rdfs:label "discharging ear" MONDO:0001934 rdfs:label "obsolete primary hypertrophic osteoarthropathy" @@ -913,11 +913,11 @@ MONDO:0000765 rdfs:label "obsolete corneal stromal dystrophy" PATO:0015008 rdfs:label "distensibility" MONDO:0006668 rdfs:label "bacterial conjunctivitis" MONDO:0012891 rdfs:label "pontocerebellar hypoplasia type 2C" -UBERON:0003860 rdfs:label "hindlimb mesenchyme" UBERON:0002302 rdfs:label "myocardium of atrium" GO:0097756 rdfs:label "obsolete negative regulation of blood vessel diameter" -UBERON:0003513 rdfs:label "trunk blood vessel" +UBERON:0003860 rdfs:label "hindlimb mesenchyme" MONDO:0004254 rdfs:label "focal intraductal papillomatosis" +UBERON:0003513 rdfs:label "trunk blood vessel" MONDO:0015215 rdfs:label "non-syndromic diaphragmatic or abdominal wall malformation" UBERON:0001616 rdfs:label "maxillary artery" CHEBI:35338 rdfs:label "amphetamines" @@ -1029,8 +1029,8 @@ MONDO:0015423 rdfs:label "obsolete anaplastic thyroid carcinoma" HP:0011282 rdfs:label "Abnormality of hindbrain morphology" MONDO:0009003 rdfs:label "achromatopsia 2" MONDO:0008447 rdfs:label "hereditary spherocytosis type 1" -http://identifiers.org/hgnc/4598 rdfs:label "GRM6" UBERON:0009906 rdfs:label "root of optic nerve" +http://identifiers.org/hgnc/4598 rdfs:label "GRM6" MONDO:0018512 rdfs:label "obsolete rare epithelial tumor of colon" http://identifiers.org/hgnc/9451 rdfs:label "PROC" MONDO:0001347 rdfs:label "facioscapulohumeral muscular dystrophy" @@ -1044,8 +1044,8 @@ MONDO:0016168 rdfs:label "cryopyrin-associated periodic syndrome" MONDO:0015081 rdfs:label "obsolete neuroendocrine tumor with other location" NCBITaxon:4893 rdfs:label "Saccharomycetaceae" MONDO:0003918 rdfs:label "angiomatous meningioma" -MONDO:0019544 rdfs:label "cocaine intoxication" CL:0000473 rdfs:label "defensive cell" +MONDO:0019544 rdfs:label "cocaine intoxication" MONDO:0017110 rdfs:label "isolated Dandy-Walker malformation with hydrocephalus" MONDO:0009888 rdfs:label "polycystic kidney, cataract, and congenital blindness" http://identifiers.org/hgnc/3586 rdfs:label "FANCE" @@ -1073,10 +1073,10 @@ http://identifiers.org/hgnc/23213 rdfs:label "PIGW" HP:0000711 rdfs:label "Restlessness" http://identifiers.org/hgnc/11104 rdfs:label "SMARCC1" FOODON:03420122 rdfs:label "nonmeat part of animal"@en -NCIT:C25218 rdfs:label "Intervention or Procedure" GO:0048770 rdfs:label "pigment granule" -NCBITaxon:6182 rdfs:label "Schistosoma japonicum" +NCIT:C25218 rdfs:label "Intervention or Procedure" MONDO:0002116 rdfs:label "malignant exocrine pancreas neoplasm" +NCBITaxon:6182 rdfs:label "Schistosoma japonicum" MONDO:0008019 rdfs:label "mullerian aplasia and hyperandrogenism" GO:0010563 rdfs:label "negative regulation of phosphorus metabolic process" MONDO:0018870 rdfs:label "arterial calcification of infancy" @@ -1141,9 +1141,9 @@ UBERON:0004538 rdfs:label "left kidney" MONDO:0021952 rdfs:label "autoimmune progesterone dermatitis" MONDO:0005108 rdfs:label "viral infectious disease" MONDO:0007740 rdfs:label "Wagner disease" +MONDO:0030134 rdfs:label "oculopharyngodistal myopathy 2" MONDO:0004021 rdfs:label "mediastinal malignant lymphoma" CHR:9606-chr16p11.2-p12.2 rdfs:label "16p11.2-p12.2 (Human)" -MONDO:0030134 rdfs:label "oculopharyngodistal myopathy 2" UBERON:0007914 rdfs:label "bone of craniocervical region" MONDO:0008308 rdfs:label "priapism, familial idiopathic" http://identifiers.org/hgnc/29040 rdfs:label "SZT2" @@ -1158,12 +1158,12 @@ MONDO:0016333 rdfs:label "familial dilated cardiomyopathy" GO:2000241 rdfs:label "regulation of reproductive process" UBERON:0005979 rdfs:label "crista terminalis" CL:0000642 rdfs:label "folliculostellate cell" -UBERON:0005181 rdfs:label "thoracic segment organ" MONDO:0005423 rdfs:label "obsolete pelvic organ prolapse" +UBERON:0005181 rdfs:label "thoracic segment organ" MONDO:0011294 rdfs:label "schizophrenia 5" MONDO:0006981 rdfs:label "subacute bacterial endocarditis" -http://identifiers.org/hgnc/19041 rdfs:label "COQ8B" MONDO:0007623 rdfs:label "flushing of ears and somnolence" +http://identifiers.org/hgnc/19041 rdfs:label "COQ8B" MONDO:0012240 rdfs:label "nemaline myopathy 4" MONDO:0014736 rdfs:label "Charcot-Marie-Tooth disease axonal type 2Z" CHEBI:38337 rdfs:label "pyrimidone" @@ -1229,10 +1229,10 @@ http://identifiers.org/hgnc/10418 rdfs:label "RPS28" GO:0007589 rdfs:label "body fluid secretion" NCBITaxon:2732007 rdfs:label "Nucleocytoviricota" MONDO:0004938 rdfs:label "substance dependence" +UBERON:0001826 rdfs:label "nasal cavity mucosa" MONDO:0044313 rdfs:label "intellectual disability, autosomal recessive 60" MONDO:0011803 rdfs:label "hereditary spastic paraplegia 7" GO:1900132 rdfs:label "positive regulation of lipid binding" -UBERON:0001826 rdfs:label "nasal cavity mucosa" MONDO:0019890 rdfs:label "non-distal trisomy 9q" GO:1903649 rdfs:label "regulation of cytoplasmic transport" UBERON:0002359 rdfs:label "fibrous pericardium" @@ -1306,8 +1306,8 @@ MONDO:0003927 rdfs:label "posterior uveal melanoma" MONDO:0019553 rdfs:label "drug-induced localized lipodystrophy" http://identifiers.org/hgnc/30417 rdfs:label "SH2B1" MONDO:0001504 rdfs:label "fetishism" -MONDO:0018356 rdfs:label "secondary neonatal autoimmune disease" http://identifiers.org/hgnc/29669 rdfs:label "IFT43" +MONDO:0018356 rdfs:label "secondary neonatal autoimmune disease" MONDO:0003704 rdfs:label "uterine corpus diffuse leiomyomatosis" MONDO:0017102 rdfs:label "isolated focal cortical dysplasia type IIb" UBERON:0005853 rdfs:label "sacral spinal cord ventral column" @@ -1339,8 +1339,8 @@ MONDO:0013044 rdfs:label "atypical hemolytic-uremic syndrome with thrombomodulin UBERON:0034681 rdfs:label "vocal organ" http://identifiers.org/hgnc/5111 rdfs:label "HOXB1" CHR:9606-chr20q11.2 rdfs:label "20q11.2 (Human)" -GO:0005764 rdfs:label "lysosome" MONDO:0020035 rdfs:label "obsolete rare otorhinolaryngologic tumor" +GO:0005764 rdfs:label "lysosome" MONDO:0004394 rdfs:label "maxillary sinus squamous cell carcinoma" MONDO:0000987 rdfs:label "cholesterolosis of gallbladder" UBERON:0003692 rdfs:label "acromioclavicular joint" @@ -1412,12 +1412,12 @@ MONDO:0020749 rdfs:label "polycystic lipomembranous osteodysplasia with sclerosi http://identifiers.org/hgnc/10978 rdfs:label "SLC24A4" MONDO:0014381 rdfs:label "cholestasis, progressive familial intrahepatic, 4" http://identifiers.org/hgnc/24212 rdfs:label "CISD2" -UBERON:0007195 rdfs:label "stroma of bone marrow" http://identifiers.org/hgnc/25583 rdfs:label "ODAD2" MONDO:0012722 rdfs:label "Dauwerse-Peters syndrome" +UBERON:0007195 rdfs:label "stroma of bone marrow" MONDO:0023069 rdfs:label "enlarged vestibular aqueduct syndrome" -MONDO:0003706 rdfs:label "adult brainstem astrocytoma" MONDO:0030072 rdfs:label "developmental and epileptic encephalopathy, 88" +MONDO:0003706 rdfs:label "adult brainstem astrocytoma" ECTO:4000031 rdfs:label "exposure to increased water temperature" GO:1902573 rdfs:label "positive regulation of serine-type peptidase activity" MONDO:0023704 rdfs:label "Martinez Monasterio Pinheiro syndrome" @@ -1433,16 +1433,16 @@ MONDO:0006669 rdfs:label "bacterial endocarditis" UBERON:0003514 rdfs:label "limb blood vessel" MONDO:0008760 rdfs:label "beta-ketothiolase deficiency" FOODON:03400643 rdfs:label "Codex Alimentarius classification of food and feed commodities"@en -http://identifiers.org/hgnc/1774 rdfs:label "CDK5" UBERON:0006871 rdfs:label "embryonic footplate" -UBERON:0013695 rdfs:label "colon endothelium" +http://identifiers.org/hgnc/1774 rdfs:label "CDK5" +MONDO:0022809 rdfs:label "Colver Steer Godman syndrome" CHEBI:50910 rdfs:label "neurotoxin" MONDO:0015587 rdfs:label "rolandic epilepsy-speech dyspraxia syndrome" MONDO:0015216 rdfs:label "syndromic diaphragmatic or abdominal wall malformation" -MONDO:0022809 rdfs:label "Colver Steer Godman syndrome" MONDO:0010614 rdfs:label "X-linked congenital generalized hypertrichosis" MONDO:0016774 rdfs:label "lichen planus pigmentosus" MONDO:0001748 rdfs:label "maxillary sinus carcinoma" +UBERON:0013695 rdfs:label "colon endothelium" MONDO:0017416 rdfs:label "postpoliomyelitis syndrome" MONDO:0019343 rdfs:label "obsolete mixed connective tissue disease" UBERON:0012480 rdfs:label "cloacal mucosa" @@ -1489,8 +1489,8 @@ MONDO:0002257 rdfs:label "ankylosis" MONDO:0015645 rdfs:label "eating seizures" MONDO:0009225 rdfs:label "fever, familial lifelong persistent" MONDO:0015821 rdfs:label "mycosis fungoides and variants" -MONDO:0004559 rdfs:label "malignant glandular tumor of peripheral nerve sheath" MONDO:0010322 rdfs:label "intellectual disability, X-linked 2" +MONDO:0004559 rdfs:label "malignant glandular tumor of peripheral nerve sheath" MONDO:0011880 rdfs:label "candidiasis, familial, 3" MONDO:0005633 rdfs:label "obsolete acute disseminated encephalomyelitis" MONDO:0001569 rdfs:label "acoustic neuroma" @@ -1503,9 +1503,9 @@ MONDO:0044322 rdfs:label "intellectual developmental disorder with neuropsychiat MONDO:0012501 rdfs:label "obsolete mutagen sensitivity" http://identifiers.org/hgnc/5962 rdfs:label "IL10" http://identifiers.org/hgnc/2649 rdfs:label "CYP51A1" -MONDO:0003698 rdfs:label "penis verrucous carcinoma" MONDO:0000475 rdfs:label "obsolete pyrimidine metabolic disorder" MONDO:0009583 rdfs:label "blepharophimosis - intellectual disability syndrome, Ohdo type" +MONDO:0003698 rdfs:label "penis verrucous carcinoma" MONDO:0019766 rdfs:label "X-linked intellectual disability, Porteous type" CL:1000746 rdfs:label "glomerular cell" HP:0000168 rdfs:label "Abnormality of the gingiva" @@ -1519,8 +1519,8 @@ FOODON:03460225 rdfs:label "food component addition process"@en MONDO:0006903 rdfs:label "peroneal nerve paralysis" UBERON:0010409 rdfs:label "ocular surface region" GO:0030100 rdfs:label "regulation of endocytosis" -MONDO:0011608 rdfs:label "atopic dermatitis 5" GO:0034655 rdfs:label "nucleobase-containing compound catabolic process" +MONDO:0011608 rdfs:label "atopic dermatitis 5" UBERON:0013526 rdfs:label "otocyst lumen" GO:0099103 rdfs:label "channel activator activity" MONDO:0014055 rdfs:label "epilepsy, familial adult myoclonic, 4" @@ -1600,8 +1600,8 @@ UBERON:0003497 rdfs:label "abdomen blood vessel" MONDO:0014420 rdfs:label "short stature due to primary acid-labile subunit deficiency" UBERON:0004443 rdfs:label "proximal epiphysis of proximal phalanx of manual digit 5" UBERON:0000379 rdfs:label "tracheal mucosa" -MONDO:0007110 rdfs:label "Diamond-Blackfan anemia 1" UBERON:0003380 rdfs:label "cardiac muscle of left atrium" +MONDO:0007110 rdfs:label "Diamond-Blackfan anemia 1" MONDO:0040964 rdfs:label "obsolete superimposed infection" MONDO:0004724 rdfs:label "submandibular gland cancer" MONDO:0010971 rdfs:label "infundibulopelvic stenosis-multicystic kidney syndrome" @@ -1610,8 +1610,8 @@ HP:0002329 rdfs:label "Drowsiness" GO:0005773 rdfs:label "vacuole" MONDO:0015082 rdfs:label "alopecia antibody deficiency" http://identifiers.org/hgnc/6357 rdfs:label "KLK1" -NCBITaxon:6183 rdfs:label "Schistosoma mansoni" HP:0032039 rdfs:label "Abnormality of the ocular adnexa" +NCBITaxon:6183 rdfs:label "Schistosoma mansoni" MONDO:0003919 rdfs:label "obsolete inherited metabolic disorder" MONDO:0019545 rdfs:label "systemic monochloroacetate poisoning" FOODON:00001293 rdfs:label "shellfish food product"@en @@ -1635,8 +1635,8 @@ MONDO:0004590 rdfs:label "obsolete fundus dystrophy" MONDO:0021055 rdfs:label "classic familial adenomatous polyposis" MONDO:0024278 rdfs:label "proctocolitis" MONDO:0003393 rdfs:label "thymus gland disorder" -UBERON:0002368 rdfs:label "endocrine gland" MONDO:0012345 rdfs:label "acral peeling skin syndrome" +UBERON:0002368 rdfs:label "endocrine gland" UBERON:0001114 rdfs:label "right lobe of liver" MONDO:0060562 rdfs:label "encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities" MONDO:0019040 rdfs:label "chromosomal disorder" @@ -1756,8 +1756,8 @@ MONDO:0013682 rdfs:label "vesicoureteral reflux 4" MONDO:0033282 rdfs:label "multiple mitochondrial dysfunctions syndrome 5" GO:0010564 rdfs:label "regulation of cell cycle process" http://identifiers.org/hgnc/10419 rdfs:label "RPS29" -MONDO:0015849 rdfs:label "longitudinal vaginal septum" HP:0002360 rdfs:label "Sleep disturbance" +MONDO:0015849 rdfs:label "longitudinal vaginal septum" MONDO:0005992 rdfs:label "trichinosis" MONDO:0100193 rdfs:label "chronic liver failure" NCBITaxon:2732008 rdfs:label "Preplasmiviricota" @@ -1791,9 +1791,9 @@ MONDO:0015980 rdfs:label "obsolete rare genetic gynecological and obstetrical di UBERON:0022292 rdfs:label "splenic arteriole" CL:1000410 rdfs:label "myocyte of atrioventricular node" MONDO:0017207 rdfs:label "primary organ-specific lymphoma" +MONDO:0020927 rdfs:label "postaxial polydactyly" MONDO:0018765 rdfs:label "cryptogenic multifocal ulcerous stenosing enteritis" MONDO:0014329 rdfs:label "atrial standstill 2" -MONDO:0020927 rdfs:label "postaxial polydactyly" MONDO:0010353 rdfs:label "deafness-intellectual disability, Martin-Probst type syndrome" MONDO:0009950 rdfs:label "pyruvate kinase deficiency of red cells" HP:0003117 rdfs:label "Abnormal circulating hormone concentration" @@ -1874,8 +1874,8 @@ MONDO:0018357 rdfs:label "neonatal antiphospholipid syndrome" MONDO:0017103 rdfs:label "encephaloclastic disorder" UBERON:0005854 rdfs:label "cervical spinal cord ventral column" MONDO:0014909 rdfs:label "primary ciliary dyskinesia 34" -GO:0002184 rdfs:label "cytoplasmic translational termination" MONDO:0007447 rdfs:label "autosomal dominant vibratory urticaria" +GO:0002184 rdfs:label "cytoplasmic translational termination" MONDO:0008151 rdfs:label "gnathodiaphyseal dysplasia" UBERON:0003693 rdfs:label "retroperitoneal space" http://identifiers.org/hgnc/7662 rdfs:label "NCF4" @@ -1889,28 +1889,29 @@ MONDO:0100486 rdfs:label "adult acne" GO:0004363 rdfs:label "glutathione synthase activity" MONDO:0044776 rdfs:label "premature ovarian failure 10" http://identifiers.org/hgnc/6553 rdfs:label "LEP" -UBERON:0004706 rdfs:label "bulbus cordis" CHEBI:29214 rdfs:label "sulfonic acid" +UBERON:0004706 rdfs:label "bulbus cordis" MONDO:0019741 rdfs:label "familial cystic renal disease" MONDO:0015145 rdfs:label "neurovascular malformation" MONDO:0008479 rdfs:label "spondylometaphyseal dysplasia, 'corner fracture' type" MONDO:0043975 rdfs:label "autonomic dysreflexia" -MONDO:0009553 rdfs:label "Plasmodium falciparum blood infection level" +MONDO:0009553 rdfs:label "obsolete Plasmodium falciparum blood infection level" MONDO:0005489 rdfs:label "dyslexia" MONDO:0030326 rdfs:label "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)" MONDO:0008051 rdfs:label "tubular aggregate myopathy" CL:0000513 rdfs:label "cardiac muscle myoblast" -UBERON:0007026 rdfs:label "presumptive gut" MONDO:0006435 rdfs:label "submandibular gland adenocarcinoma" +UBERON:0007026 rdfs:label "presumptive gut" +MONDO:8000030 rdfs:label "obsolete morphological anomaly" http://identifiers.org/hgnc/1352 rdfs:label "C8A" MONDO:0008865 rdfs:label "Bietti crystalline corneoretinal dystrophy" MONDO:0009811 rdfs:label "osteoma of middle ear" CHEBI:131604 rdfs:label "Mycoplasma genitalium metabolite" HP:0100806 rdfs:label "Sepsis" PO:0004010 rdfs:label "meristematic cell" +MONDO:0021251 rdfs:label "endometrium neoplasm" MONDO:0015028 rdfs:label "48,XXYY syndrome" MONDO:0009083 rdfs:label "conductive deafness-malformed external ear syndrome" -MONDO:0021251 rdfs:label "endometrium neoplasm" MONDO:0000190 rdfs:label "ventricular fibrillation" MONDO:0016586 rdfs:label "systemic mastocytosis" MONDO:0007813 rdfs:label "superficial epidermolytic ichthyosis" @@ -1926,9 +1927,9 @@ UBERON:0000989 rdfs:label "penis" MONDO:0002655 rdfs:label "cutaneous Paget disease" UBERON:0010338 rdfs:label "1st arch maxillary mesenchyme from head mesenchyme" MONDO:0700064 rdfs:label "aneuploidy" -MONDO:0022653 rdfs:label "cardiomyopathy due to anthracyclines" MONDO:0001264 rdfs:label "obsolete Kyasanur forest disease" MONDO:0007167 rdfs:label "atelosteogenesis type I" +MONDO:0022653 rdfs:label "cardiomyopathy due to anthracyclines" FOODON:03400004 rdfs:label "obsolete: product type, other"@en MONDO:0017964 rdfs:label "46,XX disorder of sex development induced by exogenous maternal-derived androgen" NCBITaxon:7509 rdfs:label "Siphonaptera" @@ -1973,7 +1974,7 @@ MONDO:0021524 rdfs:label "benign neoplasm of buccal mucosa" MONDO:0005268 rdfs:label "obsolete Hashimoto's thyroiditis" MONDO:0004640 rdfs:label "alcoholic gastritis" MONDO:0016835 rdfs:label "14q11.2 microduplication syndrome" -MONDO:0044965 rdfs:label "abdominal and pelvic region disorder" +MONDO:0044965 rdfs:label "obsolete abdominal and pelvic region disorder" UBERON:0002113 rdfs:label "kidney" http://identifiers.org/hgnc/10979 rdfs:label "SLC25A1" CHR:9606-chr3q rdfs:label "3q (Human)" @@ -2018,8 +2019,8 @@ GO:0016747 rdfs:label "acyltransferase activity, transferring groups other than UBERON:0002460 rdfs:label "vesical vein" MONDO:0008029 rdfs:label "Bethlem myopathy" MONDO:0016680 rdfs:label "high grade astrocytic tumor" -UBERON:0001733 rdfs:label "soft palate" MONDO:0020036 rdfs:label "obsolete rare nervous system tumor" +UBERON:0001733 rdfs:label "soft palate" NCBITaxon:11019 rdfs:label "Alphavirus" MONDO:0018880 rdfs:label "obsolete rare teratologic disease" MONDO:0008644 rdfs:label "velocardiofacial syndrome" @@ -2060,13 +2061,13 @@ MONDO:0009376 rdfs:label "carbamoyl phosphate synthetase I deficiency disease" MONDO:0002516 rdfs:label "digestive system cancer" GO:0030030 rdfs:label "cell projection organization" UBERON:0006288 rdfs:label "rib cartilage element" -UBERON:0002391 rdfs:label "lymph" MONDO:0012725 rdfs:label "lipoprotein glomerulopathy" CL:0002551 rdfs:label "fibroblast of dermis" +UBERON:0002391 rdfs:label "lymph" GO:0032230 rdfs:label "positive regulation of synaptic transmission, GABAergic" MONDO:0017825 rdfs:label "silent pituitary adenoma" -MONDO:0011599 rdfs:label "birdshot chorioretinopathy" MONDO:0004946 rdfs:label "hypoglycemia" +MONDO:0011599 rdfs:label "birdshot chorioretinopathy" MONDO:0044323 rdfs:label "Rahman syndrome" NCBITaxon:201174 rdfs:label "Actinobacteria" NCBITaxon:1809 rdfs:label "Mycobacterium ulcerans" @@ -2075,8 +2076,8 @@ NCBITaxon:188550 rdfs:label "Raphignathae" MONDO:0016250 rdfs:label "obsolete rare adenocarcinoma of the breast" MONDO:0009584 rdfs:label "intellectual disability, Buenos-Aires type" MONDO:0019767 rdfs:label "hamel cerebro-palato-cardiac syndrome" -http://identifiers.org/hgnc/13487 rdfs:label "VPS35" MONDO:0005164 rdfs:label "fibrosarcoma" +http://identifiers.org/hgnc/13487 rdfs:label "VPS35" MONDO:0004875 rdfs:label "xanthogranulomatous cholecystitis" http://identifiers.org/hgnc/18762 rdfs:label "SLC36A2" MONDO:0023235 rdfs:label "giant congenital nevus" @@ -2095,7 +2096,7 @@ MONDO:0010544 rdfs:label "cataract 40" MONDO:0010720 rdfs:label "partial androgen insensitivity syndrome" MONDO:0013943 rdfs:label "peroxisome biogenesis disorder 8B" MONDO:0018407 rdfs:label "obsolete male infertility due to obstructive azoospermia of genetic origin" -MONDO:0044967 rdfs:label "limb disorder" +MONDO:0044967 rdfs:label "obsolete limb disorder" MONDO:0033543 rdfs:label "cone-rod synaptic disorder syndrome, congenital nonprogressive" MONDO:0017691 rdfs:label "erythrocyte galactose epimerase deficiency" MONDO:0003248 rdfs:label "adult pineal parenchymal tumor" @@ -2163,9 +2164,9 @@ MONDO:0010323 rdfs:label "Atkin-Flaitz syndrome" MONDO:0011881 rdfs:label "keratosis palmoplantaris striata 3" MONDO:0019167 rdfs:label "immunoglobulin a vasculitis" MONDO:0002518 rdfs:label "gallbladder papillary neoplasm" +MONDO:0017470 rdfs:label "congenital knee dislocation" GO:0007599 rdfs:label "hemostasis" GO:1901661 rdfs:label "quinone metabolic process" -MONDO:0017470 rdfs:label "congenital knee dislocation" UBERON:0003498 rdfs:label "heart blood vessel" MONDO:0014245 rdfs:label "Diamond-Blackfan anemia 12" MONDO:0004948 rdfs:label "B-cell chronic lymphocytic leukemia" @@ -2187,9 +2188,9 @@ NCBITaxon:590 rdfs:label "Salmonella" MONDO:0011764 rdfs:label "autosomal dominant Parkinson disease 8" CL:0002153 rdfs:label "corneocyte" UBERON:0011968 rdfs:label "radio-carpal joint" -MONDO:0020067 rdfs:label "infectious encephalitis" HP:0008372 rdfs:label "Abnormality of vitamin A metabolism" CHR:9606-chr6p rdfs:label "6p (Human)" +MONDO:0020067 rdfs:label "infectious encephalitis" MONDO:0009092 rdfs:label "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly" CHR:9606-chr20p1 rdfs:label "20p1 (Human)" MONDO:0015341 rdfs:label "congenital panfollicular nevus" @@ -2198,8 +2199,8 @@ UBERON:0003685 rdfs:label "cranial suture" http://identifiers.org/hgnc/16466 rdfs:label "SUFU" MONDO:0054708 rdfs:label "retinitis pigmentosa 80" MONDO:0004079 rdfs:label "lung mucous gland adenoma" -UBERON:0015023 rdfs:label "phalanx endochondral element" MONDO:0000182 rdfs:label "congenital myasthenic syndrome with tubular aggregates" +UBERON:0015023 rdfs:label "phalanx endochondral element" MONDO:0002382 rdfs:label "benign mesenchymoma" GO:0004879 rdfs:label "nuclear receptor activity" MONDO:0009616 rdfs:label "microcephalic primordial dwarfism, Toriello type" @@ -2369,8 +2370,8 @@ MONDO:0006340 rdfs:label "ovarian serous adenofibroma" MONDO:0100252 rdfs:label "tumoral calcinosis, hyperphosphatemic, familial, 1" MONDO:0021087 rdfs:label "obsolete malignant granular cell myoblastoma" MONDO:0004118 rdfs:label "cystitis cystica" -MONDO:0015597 rdfs:label "pustulosis palmaris et plantaris" UBERON:0014703 rdfs:label "anal membrane ectodermal component" +MONDO:0015597 rdfs:label "pustulosis palmaris et plantaris" MONDO:0000504 rdfs:label "obsolete follicular lymphoma" MONDO:0024340 rdfs:label "retinal neuroblastoma" MONDO:0011157 rdfs:label "Gomez-Lopez-Hernandez syndrome" @@ -2412,11 +2413,11 @@ MONDO:0006178 rdfs:label "dedifferentiated solitary fibrous tumor" GO:0045684 rdfs:label "positive regulation of epidermis development" NCBITaxon:948 rdfs:label "Anaplasma phagocytophilum" HP:0001287 rdfs:label "Meningitis" +UBERON:0004453 rdfs:label "metacarpus region" HP:0000998 rdfs:label "Hypertrichosis" HP:0010719 rdfs:label "Abnormality of hair texture" MONDO:0015146 rdfs:label "classic lissencephaly" http://identifiers.org/hgnc/29300 rdfs:label "KANK2" -UBERON:0004453 rdfs:label "metacarpus region" GO:0006835 rdfs:label "dicarboxylic acid transport" MONDO:0009554 rdfs:label "3MC syndrome 3" HP:0000486 rdfs:label "Strabismus" @@ -2446,6 +2447,7 @@ MONDO:0000672 rdfs:label "form agnosia" MONDO:0022831 rdfs:label "congenital heart disease ptosis hypodontia craniostosis" MONDO:0006575 rdfs:label "obsolete loiasis" UBERON:0013705 rdfs:label "fascia of Scarpa" +MONDO:0100487 rdfs:label "TPM4-related platelet disorder" CHEBI:16150 rdfs:label "benzoate" http://identifiers.org/hgnc/20373 rdfs:label "SPG21" UBERON:0003420 rdfs:label "mesenchyme of sublingual gland" @@ -2459,6 +2461,7 @@ CL:0000514 rdfs:label "smooth muscle myoblast" UBERON:0002682 rdfs:label "abducens nucleus" UBERON:0000326 rdfs:label "pancreatic juice" MONDO:0009929 rdfs:label "neonatal acute respiratory distress due to SP-B deficiency" +MONDO:8000031 rdfs:label "obsolete subtype of a disorder" MONDO:0008866 rdfs:label "bifid nose, autosomal recessive" GO:0006281 rdfs:label "DNA repair" MONDO:0009812 rdfs:label "osteomalacia, sclerosing, with cerebral calcification" @@ -2499,8 +2502,8 @@ MONDO:0000309 rdfs:label "aniseikonia" MONDO:0002421 rdfs:label "obsolete chorioangioma" MONDO:0012724 rdfs:label "familial cold autoinflammatory syndrome 2" GO:0016108 rdfs:label "tetraterpenoid metabolic process" -MONDO:0030074 rdfs:label "spondylometaphyseal dysplasia with corneal dystrophy" NCBITaxon:1489843 rdfs:label "Gadariae" +MONDO:0030074 rdfs:label "spondylometaphyseal dysplasia with corneal dystrophy" http://identifiers.org/hgnc/20580 rdfs:label "CYP2R1" HP:0040126 rdfs:label "Abnormal vitamin B12 level" UBERON:0036263 rdfs:label "supraglottic part of larynx" @@ -2734,12 +2737,12 @@ MONDO:0019605 rdfs:label "immunotactoid or fibrillary glomerulopathy" MONDO:0000183 rdfs:label "obsolete hypertrophic osteoarthropathy, primary" UBERON:0015024 rdfs:label "manual digit phalanx endochondral element" UBERON:0035651 rdfs:label "glans" -UBERON:0034945 rdfs:label "excreted gas" MONDO:0013308 rdfs:label "CBL-related disorder" MONDO:0002383 rdfs:label "Pacinian tumor" MONDO:0002012 rdfs:label "methylmalonic acidemia" MONDO:0018408 rdfs:label "cystic echinococcosis" CL:0000748 rdfs:label "retinal bipolar neuron" +UBERON:0034945 rdfs:label "excreted gas" MONDO:0033544 rdfs:label "Tolchin-Le Caignec syndrome" MONDO:0005529 rdfs:label "obsolete methylmalonic aciduria and homocystinuria type cblG" GO:0055076 rdfs:label "transition metal ion homeostasis" @@ -2772,11 +2775,11 @@ MONDO:0006133 rdfs:label "cervical adenoid cystic carcinoma" MONDO:0020289 rdfs:label "congenital tricuspid malformation" MONDO:0014526 rdfs:label "polyglucosan body myopathy type 2" GO:1905503 rdfs:label "regulation of motile cilium assembly" -MONDO:0022109 rdfs:label "catatrichy" +MONDO:0022109 rdfs:label "obsolete catatrichy" MONDO:0018274 rdfs:label "GM3 synthase deficiency" +MONDO:0022888 rdfs:label "craniostenosis cataract" MONDO:0004446 rdfs:label "olfactory groove meningioma" http://identifiers.org/hgnc/7104 rdfs:label "MIPEP" -MONDO:0022888 rdfs:label "craniostenosis cataract" GO:0045654 rdfs:label "positive regulation of megakaryocyte differentiation" MONDO:0001632 rdfs:label "intracranial arteriosclerosis" CL:0000593 rdfs:label "androgen secreting cell" @@ -2812,8 +2815,8 @@ MONDO:0011297 rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 2" ENVO:01000314 rdfs:label "high osmolarity environment" GO:0002718 rdfs:label "regulation of cytokine production involved in immune response" MONDO:0012243 rdfs:label "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations" -GO:0071900 rdfs:label "regulation of protein serine/threonine kinase activity" MONDO:0019712 rdfs:label "patellar dysostosis" +GO:0071900 rdfs:label "regulation of protein serine/threonine kinase activity" MONDO:0006491 rdfs:label "vulvar lichen sclerosus" UBERON:0014702 rdfs:label "frontonasal process epithelium" MONDO:0018515 rdfs:label "squamous cell carcinoma of rectum" @@ -2836,9 +2839,9 @@ MONDO:0044912 rdfs:label "metastatic malignant neoplasm in the spinal cord" MONDO:0013684 rdfs:label "vesicoureteral reflux 6" UBERON:0018120 rdfs:label "right renal medulla interstitium" GO:0010566 rdfs:label "regulation of ketone biosynthetic process" -UBERON:0035818 rdfs:label "visceral fat" MONDO:0009093 rdfs:label "dermatoleukodystrophy" UBERON:0011265 rdfs:label "carpometacarpal joint of digit 1" +UBERON:0035818 rdfs:label "visceral fat" MONDO:0015342 rdfs:label "acute transverse myelitis" http://identifiers.org/hgnc/6619 rdfs:label "LIPC" MONDO:0012464 rdfs:label "cone-rod dystrophy 10" @@ -2862,8 +2865,8 @@ GO:0002888 rdfs:label "positive regulation of myeloid leukocyte mediated immunit MONDO:0012347 rdfs:label "hamartoma, Precalcaneal congenital fibrolipomatous" http://identifiers.org/hgnc/11506 rdfs:label "SYP" http://identifiers.org/hgnc/14872 rdfs:label "ASPN" -MONDO:0019042 rdfs:label "multiple congenital anomalies/dysmorphic syndrome" ENVO:01000034 rdfs:label "oceanic sea surface microlayer biome" +MONDO:0019042 rdfs:label "multiple congenital anomalies/dysmorphic syndrome" MONDO:0016095 rdfs:label "vaginal rhabdomyosarcoma" CHEBI:33262 rdfs:label "elemental oxygen" http://identifiers.org/hgnc/12665 rdfs:label "VCL" @@ -2926,11 +2929,11 @@ MONDO:0017731 rdfs:label "glycoproteinosis" MONDO:0023267 rdfs:label "goldstein hutt syndrome" MONDO:0024341 rdfs:label "retinal cell neoplasm" MONDO:0011158 rdfs:label "autoimmune lymphoproliferative syndrome type 1" -MONDO:0032712 rdfs:label "combined oxidative phosphorylation deficiency 38" UBERON:0006173 rdfs:label "pronephric proximal tubule" +MONDO:0032712 rdfs:label "combined oxidative phosphorylation deficiency 38" +GO:0060688 rdfs:label "regulation of morphogenesis of a branching structure" MONDO:0005582 rdfs:label "binge eating disorder" MONDO:0017777 rdfs:label "obsolete rat-bite fever" -GO:0060688 rdfs:label "regulation of morphogenesis of a branching structure" http://identifiers.org/hgnc/29043 rdfs:label "DSTYK" http://identifiers.org/hgnc/25403 rdfs:label "SASS6" CHR:9606-chr19p13 rdfs:label "19p13 (Human)" @@ -2961,6 +2964,7 @@ NCBITaxon:41831 rdfs:label "Psychodoidea" CHEBI:15379 rdfs:label "dioxygen" MONDO:0011891 rdfs:label "febrile seizures, familial, 8" MONDO:0022832 rdfs:label "congenital heart disease radio ulnar synostosis intellectual disability" +MONDO:0100488 rdfs:label "CDH1-related diffuse gastric and lobular breast cancer" UBERON:0010537 rdfs:label "mesonephric nephron progenitor" MONDO:0044778 rdfs:label "nodular lymphocyte predominant Hodgkin lymphoma" HP:0200036 rdfs:label "Skin nodule" @@ -2978,6 +2982,7 @@ GO:0022402 rdfs:label "cell cycle process" MONDO:0002455 rdfs:label "exocervical carcinoma" http://identifiers.org/hgnc/12830 rdfs:label "XRCC3" UBERON:0007830 rdfs:label "pelvic girdle bone/zone" +MONDO:8000032 rdfs:label "obsolete malformation syndrome" GO:0006282 rdfs:label "regulation of DNA repair" MONDO:0005174 rdfs:label "acute hypotension" MONDO:0017326 rdfs:label "infective dermatitis associated with HTLV-1" @@ -2998,8 +3003,8 @@ http://identifiers.org/hgnc/4232 rdfs:label "GDNF" MONDO:0000673 rdfs:label "integrative agnosia" MONDO:0006576 rdfs:label "Ludwig's angina" MONDO:0019964 rdfs:label "thymic neuroendocrine tumor" -GO:0051239 rdfs:label "regulation of multicellular organismal process" MONDO:0009776 rdfs:label "spermatogenic failure 1" +GO:0051239 rdfs:label "regulation of multicellular organismal process" MONDO:0018767 rdfs:label "severe primary trimethylaminuria" CHEBI:51269 rdfs:label "acenes" MONDO:0009952 rdfs:label "radioulnar synostosis-developmental delay-hypotonia syndrome" @@ -3069,6 +3074,7 @@ MONDO:0007566 rdfs:label "multiple self-healing squamous epithelioma" UBERON:0004454 rdfs:label "tarsal region" HP:0100871 rdfs:label "Abnormality of the palm" HP:0001698 rdfs:label "Pericardial effusion" +MONDO:8000034 rdfs:label "obsolete disorder" UBERON:0035767 rdfs:label "intrapulmonary bronchus" NCBITaxon:6194 rdfs:label "Opisthorchiata" CL:2000082 rdfs:label "melanocyte of foreskin" @@ -3093,8 +3099,8 @@ MONDO:0009626 rdfs:label "pseudo-TORCH syndrome" http://identifiers.org/hgnc/18374 rdfs:label "HPSE2" MONDO:0015280 rdfs:label "cardiofaciocutaneous syndrome" GO:0006355 rdfs:label "regulation of transcription, DNA-templated" -MONDO:0030483 rdfs:label "immunodeficiency 88" MONDO:0015670 rdfs:label "obsolete cardiomyopathy" +MONDO:0030483 rdfs:label "immunodeficiency 88" http://identifiers.org/hgnc/7501 rdfs:label "MT-TW" MONDO:0020851 rdfs:label "spermatogenic failure 30" MONDO:0013875 rdfs:label "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome" @@ -3129,7 +3135,6 @@ http://identifiers.org/hgnc/11303 rdfs:label "SRP72" MONDO:0003826 rdfs:label "mediastinum seminoma" MONDO:0008366 rdfs:label "red cell permeability defect" GO:0006721 rdfs:label "terpenoid metabolic process" -UBERON:0022357 rdfs:label "mesentery of ileum" MONDO:0018431 rdfs:label "cold-induced sweating syndrome - hyperthermia spectrum" CHEBI:37622 rdfs:label "carboxamide" CL:0000771 rdfs:label "eosinophil" @@ -3137,6 +3142,7 @@ MONDO:0009449 rdfs:label "ciliary dyskinesia with defective radial spokes" MONDO:0002657 rdfs:label "breast disorder" HP:0010972 rdfs:label "Anemia of inadequate production" GO:0030103 rdfs:label "vasopressin secretion" +UBERON:0022357 rdfs:label "mesentery of ileum" MONDO:0001266 rdfs:label "erysipelas" UBERON:0013191 rdfs:label "ovarian cortex" MONDO:0007169 rdfs:label "atherosclerosis susceptibility" @@ -3186,8 +3192,8 @@ UBERON:0002115 rdfs:label "jejunum" MONDO:0000946 rdfs:label "psychologic vaginismus" GO:0044458 rdfs:label "motile cilium assembly" UBERON:0001737 rdfs:label "larynx" -MONDO:0017536 rdfs:label "central polydactyly of fingers, bilateral" UBERON:0003937 rdfs:label "reproductive gland" +MONDO:0017536 rdfs:label "central polydactyly of fingers, bilateral" GO:0043243 rdfs:label "positive regulation of protein-containing complex disassembly" MONDO:0032672 rdfs:label "intellectual developmental disorder with cardiac defects and dysmorphic facies" MONDO:0006626 rdfs:label "diabetic neuropathy" @@ -3227,8 +3233,8 @@ GO:1901663 rdfs:label "quinone biosynthetic process" UBERON:0004160 rdfs:label "proepicardium" UBERON:0010020 rdfs:label "tubotympanic recess epithelium" http://identifiers.org/hgnc/10682 rdfs:label "SDHC" -MONDO:0018023 rdfs:label "hemoglobin M disease" UBERON:0004446 rdfs:label "epiphysis of phalanx" +MONDO:0018023 rdfs:label "hemoglobin M disease" http://identifiers.org/hgnc/15979 rdfs:label "TP63" UBERON:0008188 rdfs:label "tendon of biceps brachii" UBERON:0006876 rdfs:label "vasculature of organ" @@ -3243,12 +3249,12 @@ MONDO:0010548 rdfs:label "spinocerebellar ataxia, X-linked 2" MONDO:0017264 rdfs:label "syndromic recessive X-linked ichthyosis" MONDO:0015648 rdfs:label "startle epilepsy" NCBITaxon:29169 rdfs:label "Ancylostoma" -SO:1000036 rdfs:label "inversion" UBERON:0035652 rdfs:label "fibular nerve" +SO:1000036 rdfs:label "inversion" MONDO:0009618 rdfs:label "microcephaly-cardiomyopathy syndrome" GO:0051248 rdfs:label "negative regulation of protein metabolic process" -UBERON:0004667 rdfs:label "interventricular septum muscular part" MONDO:0014644 rdfs:label "hereditary spastic paraplegia 74" +UBERON:0004667 rdfs:label "interventricular septum muscular part" UBERON:0002393 rdfs:label "pharyngotympanic tube" FOODON:00001304 rdfs:label "food fermentation"@en http://identifiers.org/hgnc/2606 rdfs:label "CYP27B1" @@ -3285,8 +3291,8 @@ http://identifiers.org/hgnc/7190 rdfs:label "MOCS1" MONDO:0019606 rdfs:label "simple cryoglobulinemia" MONDO:0007752 rdfs:label "hyperheparinemia" MONDO:0030522 rdfs:label "spermatogenic failure 64" -MONDO:0013309 rdfs:label "chromosome 2p12-p11.2 deletion syndrome" MONDO:0004447 rdfs:label "pituitary stalk meningioma" +MONDO:0013309 rdfs:label "chromosome 2p12-p11.2 deletion syndrome" MONDO:0002013 rdfs:label "lymphangioma" MONDO:0018409 rdfs:label "obsolete rare genetic disorder with obstructive azoospermia" UBERON:0034946 rdfs:label "gas excreted from digestive tract" @@ -3306,13 +3312,13 @@ MONDO:0013515 rdfs:label "osteogenesis imperfecta type 6" CHEBI:33484 rdfs:label "chalcogen oxoacid" http://identifiers.org/hgnc/21024 rdfs:label "CUL7" MONDO:0006993 rdfs:label "systolic heart failure" +MONDO:0021487 rdfs:label "benign neoplasm of choroid" ENVO:00003075 rdfs:label "obsolete anthropogenic abiotic mesoscopic feature" MONDO:0003762 rdfs:label "malignant leptomeningeal tumor" -MONDO:0021487 rdfs:label "benign neoplasm of choroid" MONDO:0005888 rdfs:label "ornithosis" MONDO:0000231 rdfs:label "Far eastern spotted fever" -MONDO:0006134 rdfs:label "cervical adenosquamous carcinoma" UBERON:0010276 rdfs:label "space in vertebral column" +MONDO:0006134 rdfs:label "cervical adenosquamous carcinoma" UBERON:0001850 rdfs:label "lacrimal drainage system" MONDO:0001468 rdfs:label "synovial plica syndrome" MONDO:0010260 rdfs:label "arthrogryposis, congenital, lower limb, X-linked" @@ -3360,9 +3366,9 @@ UBERON:0010684 rdfs:label "pedal digit 5 phalanx cartilage element" http://identifiers.org/hgnc/4922 rdfs:label "HK1" MONDO:0024563 rdfs:label "herpes simplex encephalitis, susceptibility to, 1" UBERON:0035431 rdfs:label "mediastinal pleura" +UBERON:0001579 rdfs:label "olfactory nerve" MONDO:0005309 rdfs:label "spinal fracture" MONDO:0015156 rdfs:label "obsolete typhus-group rickettsiosis" -UBERON:0001579 rdfs:label "olfactory nerve" NCBITaxon:318479 rdfs:label "Dracunculus medinensis" MONDO:0014247 rdfs:label "familial episodic pain syndrome with predominantly lower limb involvement" MONDO:0007941 rdfs:label "malocclusion due to protuberant upper front teeth" @@ -3388,9 +3394,9 @@ MONDO:0000010 rdfs:label "obsolete cerebrooculofacioskeletal syndrome" HP:0002718 rdfs:label "Recurrent bacterial infections" CHEBI:29412 rdfs:label "oxonium" CL:0000843 rdfs:label "follicular B cell" -UBERON:0035819 rdfs:label "abdominopelvic cavity" MONDO:0020069 rdfs:label "chronic encephalitis" MONDO:0009094 rdfs:label "dermochondrocorneal dystrophy" +UBERON:0035819 rdfs:label "abdominopelvic cavity" http://identifiers.org/hgnc/9004 rdfs:label "PITX1" MONDO:0015343 rdfs:label "secondary acute transverse myelitis" MONDO:0012465 rdfs:label "hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency" @@ -3432,8 +3438,8 @@ MONDO:0019301 rdfs:label "obsolete metabolic disease with skin involvement" GO:2000832 rdfs:label "negative regulation of steroid hormone secretion" MONDO:0034127 rdfs:label "IgA pemphigus" MONDO:0000400 rdfs:label "mixed cerebral palsy" -MONDO:0018275 rdfs:label "obsolete salt and pepper syndrome" UBERON:0010536 rdfs:label "nephron progenitor" +MONDO:0018275 rdfs:label "obsolete salt and pepper syndrome" MONDO:0021652 rdfs:label "diffuse type adenocarcinoma" MONDO:0012758 rdfs:label "prostate cancer, hereditary, 13" MONDO:0005396 rdfs:label "thoracic aortic aneurysm" @@ -3472,14 +3478,14 @@ BFO:0000002 rdfs:label "continuant"@en BFO:0000002 rdfs:label "continuant" PATO:0000587 rdfs:label "decreased size" MONDO:0016337 rdfs:label "obsolete syndrome associated with dilated cardiomyopathy" -NCBITaxon:1513 rdfs:label "Clostridium tetani" UBERON:0001673 rdfs:label "central retinal vein" +NCBITaxon:1513 rdfs:label "Clostridium tetani" MONDO:0012068 rdfs:label "brachial palsy, familial congenital" MONDO:0011298 rdfs:label "schizophrenia 8" UBERON:0003526 rdfs:label "respiratory system capillary" MONDO:0030453 rdfs:label "developmental and epileptic encephalopathy 97" -MONDO:0019713 rdfs:label "non-syndromic limb reduction defect" MONDO:0012244 rdfs:label "prostate cancer, hereditary, 5" +MONDO:0019713 rdfs:label "non-syndromic limb reduction defect" MONDO:0008772 rdfs:label "amelogenesis imperfecta type 2A1" GO:1902932 rdfs:label "positive regulation of alcohol biosynthetic process" GO:0071901 rdfs:label "negative regulation of protein serine/threonine kinase activity" @@ -3523,12 +3529,14 @@ MONDO:0008154 rdfs:label "osteomas of mandible" MONDO:0020644 rdfs:label "lung non-Hodgkin lymphoma" http://identifiers.org/hgnc/16915 rdfs:label "HAX1" GO:0015276 rdfs:label "ligand-gated ion channel activity" +MONDO:0100489 rdfs:label "Graves disease, susceptibility to, 1" UBERON:0003422 rdfs:label "mesenchyme of umbilical cord" CL:1000413 rdfs:label "endothelial cell of artery" MONDO:0011807 rdfs:label "systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1" MONDO:0033671 rdfs:label "spermatogenic failure 45" MONDO:0016261 rdfs:label "obsolete sarcoma of the corpus uteri" MONDO:0019778 rdfs:label "Smith-Fineman-Myers syndrome" +MONDO:8000033 rdfs:label "obsolete group of disorders" MONDO:0017498 rdfs:label "congenital absence of both forearm and hand, unilateral" MONDO:0005175 rdfs:label "aggressive insulitis" UBERON:0012303 rdfs:label "ureteral orifice" @@ -3544,7 +3552,7 @@ CHEBI:57986 rdfs:label "riboflavin(1-)" UBERON:0011860 rdfs:label "collection of collagen fibrils" MONDO:0011501 rdfs:label "wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia" http://identifiers.org/hgnc/3287 rdfs:label "EIF4E" -MONDO:0044978 rdfs:label "disease of cell nucleus" +MONDO:0044978 rdfs:label "obsolete disease of cell nucleus" http://identifiers.org/hgnc/29659 rdfs:label "MESP2" HP:0003498 rdfs:label "Disproportionate short stature" MONDO:0054869 rdfs:label "nondystrophic myotonia" @@ -3591,8 +3599,8 @@ MONDO:0002879 rdfs:label "uterine body mixed cancer" MONDO:0003825 rdfs:label "kidney oncocytoma" MONDO:0011671 rdfs:label "Huntington disease-like 2" CHR:9606-chr16q24.3 rdfs:label "16q24.3 (Human)" -MONDO:0006635 rdfs:label "Acinetobacter infectious disease" MONDO:0001664 rdfs:label "submucous uterine fibroid" +MONDO:0006635 rdfs:label "Acinetobacter infectious disease" MONDO:0007567 rdfs:label "obsolete Epstein-Barr virus insertion site 1" HP:0100872 rdfs:label "Abnormality of the plantar skin of foot" http://identifiers.org/hgnc/25740 rdfs:label "CEP78" @@ -3637,8 +3645,8 @@ http://identifiers.org/hgnc/7315 rdfs:label "MS4A1" MONDO:0020039 rdfs:label "46,XX disorder of sex development induced by androgens excess" UBERON:8410021 rdfs:label "inguinal region skin" UBERON:0015080 rdfs:label "proximal carpal bone pre-cartilage condensation" -MONDO:0023153 rdfs:label "tuberculous ascites" UBERON:0011979 rdfs:label "epiphysis of distal phalanx of manus" +MONDO:0023153 rdfs:label "tuberculous ascites" NCBITaxon:42414 rdfs:label "Sigmodon" MONDO:0004398 rdfs:label "mediastinal schwannoma" http://identifiers.org/hgnc/17996 rdfs:label "NAGS" @@ -3654,8 +3662,8 @@ NCBITaxon:11974 rdfs:label "Caliciviridae" MONDO:0008985 rdfs:label "ciliary dyskinesia with transposition of ciliary microtubules" MONDO:0009627 rdfs:label "Galloway-Mowat syndrome" MONDO:0044274 rdfs:label "obsolete hemoglobin, high altitude adaptation" -MONDO:0020449 rdfs:label "persistent eustachian valve" MONDO:0015788 rdfs:label "symptomatic form of hemophilia B in female carriers" +MONDO:0020449 rdfs:label "persistent eustachian valve" MONDO:0014653 rdfs:label "retinitis pigmentosa 72" http://identifiers.org/hgnc/6556 rdfs:label "LETM1" GO:0032350 rdfs:label "regulation of hormone metabolic process" @@ -3684,12 +3692,12 @@ MONDO:0014840 rdfs:label "agammaglobulinemia 8, autosomal dominant" MONDO:0017828 rdfs:label "primary renal tubular acidosis" http://identifiers.org/hgnc/9360 rdfs:label "PRF1" CL:0000393 rdfs:label "electrically responsive cell" -MONDO:0017030 rdfs:label "interstitial lung disease in childhood and adulthood" GO:0042592 rdfs:label "homeostatic process" +MONDO:0017030 rdfs:label "interstitial lung disease in childhood and adulthood" MONDO:0021254 rdfs:label "corpus uteri neoplasm" MONDO:0043191 rdfs:label "radial defect robin sequence" -MONDO:0032809 rdfs:label "hepatitis, fulminant viral, susceptibility to" MONDO:0004456 rdfs:label "cocaine abuse" +MONDO:0032809 rdfs:label "hepatitis, fulminant viral, susceptibility to" MONDO:0022898 rdfs:label "craniosynostosis intellectual disability heart defects" MONDO:0021644 rdfs:label "esophageal varices without bleeding" HP:0001000 rdfs:label "Abnormality of skin pigmentation" @@ -3718,8 +3726,8 @@ MONDO:0001869 rdfs:label "paraurethral gland cancer" MONDO:0017537 rdfs:label "Preaxial polydactyly of toes, unilateral" MONDO:0032673 rdfs:label "basal ganglia calcification, idiopathic, 7, autosomal recessive" ECTO:4000035 rdfs:label "exposure to increased water pressure" -MONDO:0010053 rdfs:label "hereditary spherocytosis type 3" UBERON:0012180 rdfs:label "head or neck skin" +MONDO:0010053 rdfs:label "hereditary spherocytosis type 3" MONDO:0005388 rdfs:label "primary biliary cholangitis" http://identifiers.org/hgnc/18986 rdfs:label "GBA2" MONDO:0012253 rdfs:label "multiple epiphyseal dysplasia, with severe proximal femoral dysplasia" @@ -3740,8 +3748,8 @@ NCBITaxon:86661 rdfs:label "Bacillus cereus group" http://identifiers.org/hgnc/11055 rdfs:label "SLC6A8" MONDO:0013655 rdfs:label "intellectual disability, autosomal dominant 8" MONDO:0003648 rdfs:label "tympanic membrane disorder" -MONDO:0023003 rdfs:label "double fingernail of fifth finger" MONDO:0011494 rdfs:label "hyaluronan metabolism, defect 1N" +MONDO:0023003 rdfs:label "double fingernail of fifth finger" UBERON:0002116 rdfs:label "ileum" MONDO:0000947 rdfs:label "psychosexual disorder" http://identifiers.org/hgnc/10254 rdfs:label "ROM1" @@ -3762,10 +3770,10 @@ http://identifiers.org/hgnc/14539 rdfs:label "RNF213" MONDO:0013876 rdfs:label "basal cell carcinoma, susceptibility to, 7" MONDO:0021459 rdfs:label "benign neoplasm of esophagus" CHEBI:33233 rdfs:label "fundamental particle" -UBERON:8410049 rdfs:label "serosal nerve fiber of appendix" MONDO:0010549 rdfs:label "Charcot-Marie-Tooth disease X-linked dominant 1" HP:0010576 rdfs:label "Intracranial cystic lesion" MONDO:0015649 rdfs:label "micturation-induced seizures" +UBERON:8410049 rdfs:label "serosal nerve fiber of appendix" MONDO:0007270 rdfs:label "cardiomyopathy, familial restrictive, 1" GO:1905653 rdfs:label "positive regulation of artery morphogenesis" MONDO:0009229 rdfs:label "hyaline fibromatosis syndrome" @@ -3786,8 +3794,8 @@ HP:0012243 rdfs:label "Abnormal reproductive system morphology" MONDO:0030923 rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis" HP:0002047 rdfs:label "Malignant hyperthermia" UBERON:0006877 rdfs:label "vasculature of liver" -MONDO:0016253 rdfs:label "obsolete rare cancer of corpus uteri" UBERON:0000946 rdfs:label "cardial valve" +MONDO:0016253 rdfs:label "obsolete rare cancer of corpus uteri" MONDO:0000479 rdfs:label "segmental dystonia" UBERON:0007823 rdfs:label "appendage girdle region" MONDO:0043108 rdfs:label "infantile striato thalamic degeneration" @@ -3810,10 +3818,10 @@ MONDO:0017694 rdfs:label "glycogen storage disease due to acid maltase deficienc GO:0051249 rdfs:label "regulation of lymphocyte activation" MONDO:0014645 rdfs:label "BENTA disease" UBERON:0004668 rdfs:label "fourth ventricle aperture" -UBERON:0003581 rdfs:label "eyelid connective tissue" UBERON:0002394 rdfs:label "bile duct" -MONDO:0002990 rdfs:label "benign deep fibrous histiocytoma" GO:2000215 rdfs:label "negative regulation of proline metabolic process" +MONDO:0002990 rdfs:label "benign deep fibrous histiocytoma" +UBERON:0003581 rdfs:label "eyelid connective tissue" CHR:9606-chr1q12-q21 rdfs:label "1q12-q21 (Human)" CL:0010004 rdfs:label "mononuclear cell of bone marrow" MONDO:0006312 rdfs:label "myofibroma" @@ -3888,14 +3896,14 @@ MONDO:0013478 rdfs:label "PLIN1-related familial partial lipodystrophy" MONDO:0016103 rdfs:label "isolated asymptomatic elevation of creatine phosphokinase" MONDO:0030338 rdfs:label "anencephaly 2" MONDO:0003984 rdfs:label "internal auditory canal lipoma" -UBERON:0015410 rdfs:label "heart plus pericardium" UBERON:0004447 rdfs:label "proximal epiphysis of phalanx" MONDO:0024271 rdfs:label "intestinal helminthiasis" +UBERON:0015410 rdfs:label "heart plus pericardium" http://identifiers.org/hgnc/2536 rdfs:label "CTSK" MONDO:0010799 rdfs:label "deafness, aminoglycoside-induced" UBERON:0010498 rdfs:label "pseudostratified columnar epithelium" -UBERON:0003384 rdfs:label "skeletal muscle tissue of pharynx" MONDO:0013361 rdfs:label "congenital prothrombin deficiency" +UBERON:0003384 rdfs:label "skeletal muscle tissue of pharynx" MONDO:0010975 rdfs:label "arrhythmogenic right ventricular dysplasia 2" MONDO:0100003 rdfs:label "susceptibility to angioedema induced by ACE inhibitors" NCBITaxon:5654 rdfs:label "Trypanosomatidae" @@ -3915,7 +3923,7 @@ MONDO:0042956 rdfs:label "Saal-Bulas syndrome" HsapDv:0000112 rdfs:label "18-year-old human stage" MONDO:0007942 rdfs:label "Mammastatin" MONDO:0032935 rdfs:label "rhizomelic limb shortening with dysmorphic features" -MONDO:0021059 rdfs:label "head or neck disorder/disorder" +MONDO:0021059 rdfs:label "obsolete head or neck disorder/disorder" http://identifiers.org/hgnc/7685 rdfs:label "NDUFA2" CHR:9606-chr15q11-q13 rdfs:label "15q11-q13 (Human)" MONDO:0011064 rdfs:label "lethal chondrodysplasia, Seller type" @@ -3953,12 +3961,12 @@ MONDO:0008909 rdfs:label "congenital disorder of glycosylation, type i/IIx" MONDO:0021582 rdfs:label "lentigo" MONDO:0011318 rdfs:label "Tonoki syndrome" MONDO:0007179 rdfs:label "autoimmune disease" -UBERON:0036422 rdfs:label "wall of pulmonary artery" MONDO:0013518 rdfs:label "pituitary hormone deficiency, combined, 6" ENVO:01000895 rdfs:label "snowfall"@en MONDO:0019265 rdfs:label "diazoxide-resistant focal hyperinsulinism" MONDO:0004613 rdfs:label "acute intestinal ischemia" CHEBI:33485 rdfs:label "chalcogen oxoanion" +UBERON:0036422 rdfs:label "wall of pulmonary artery" MONDO:0018922 rdfs:label "cold agglutinin disease" UBERON:0004200 rdfs:label "kidney pyramid" MONDO:0021488 rdfs:label "benign neoplasm of lacrimal gland" @@ -4012,9 +4020,9 @@ MONDO:0000622 rdfs:label "obsolete cell type benign neoplasm" MONDO:0008960 rdfs:label "Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome" http://identifiers.org/hgnc/15864 rdfs:label "RBCK1" HP:0000790 rdfs:label "Hematuria" +PATO:0000588 rdfs:label "vestigial" http://identifiers.org/hgnc/1974 rdfs:label "CHUK" MONDO:0005006 rdfs:label "clear cell sarcoma of kidney" -PATO:0000588 rdfs:label "vestigial" MONDO:0002387 rdfs:label "liver angiosarcoma" UBERON:0035505 rdfs:label "right inguinal part of abdomen" MONDO:0007075 rdfs:label "alacrima, congenital, autosomal dominant" @@ -4156,6 +4164,7 @@ HP:0004447 rdfs:label "Poikilocytosis" MONDO:0008155 rdfs:label "osteomesopyknosis" UBERON:0003697 rdfs:label "abdominal wall" MONDO:0011504 rdfs:label "NDE1-related microhydranencephaly" +UBERON:0003580 rdfs:label "lower respiratory tract connective tissue" CL:0000213 rdfs:label "lining cell" PATO:0001693 rdfs:label "increased viscosity" NCBITaxon:11628 rdfs:label "Machupo mammarenavirus" @@ -4163,7 +4172,6 @@ GO:0010941 rdfs:label "regulation of cell death" MONDO:0008986 rdfs:label "circumvallate placenta syndrome" UBERON:0000047 rdfs:label "simple eye" GO:0099023 rdfs:label "vesicle tethering complex" -UBERON:0003580 rdfs:label "lower respiratory tract connective tissue" MONDO:0009628 rdfs:label "microcolon" MONDO:0011893 rdfs:label "autosomal dominant nonsyndromic hearing loss 52" CL:0000970 rdfs:label "unswitched memory B cell" @@ -4174,8 +4182,8 @@ MONDO:0015149 rdfs:label "pure hereditary spastic paraplegia" MONDO:0033672 rdfs:label "Duane anomaly-myopathy-scoliosis syndrome" MONDO:0006439 rdfs:label "obsolete syringocystadenoma papilliferum" MONDO:0016262 rdfs:label "leiomyosarcoma of the corpus uteri" -MONDO:0010745 rdfs:label "beta-thalassemia-X-linked thrombocytopenia syndrome" PATO:0000627 rdfs:label "localized" +MONDO:0010745 rdfs:label "beta-thalassemia-X-linked thrombocytopenia syndrome" MONDO:0019779 rdfs:label "Renier-Gabreels-Jasper syndrome" UBERON:0007832 rdfs:label "pelvic girdle skeleton" MONDO:0013213 rdfs:label "hearing loss, cisplatin-induced, susceptibility to" @@ -4372,8 +4380,8 @@ MONDO:0013656 rdfs:label "intellectual disability, autosomal dominant 9" GO:0045657 rdfs:label "positive regulation of monocyte differentiation" MONDO:0014867 rdfs:label "spinocerebellar ataxia 43" MONDO:0008930 rdfs:label "celiac disease, susceptibility to, 1" -http://identifiers.org/hgnc/1618 rdfs:label "CCT5" GO:0099537 rdfs:label "trans-synaptic signaling" +http://identifiers.org/hgnc/1618 rdfs:label "CCT5" GO:0030099 rdfs:label "myeloid cell differentiation" HP:0000632 rdfs:label "Lacrimation abnormality" MONDO:0000948 rdfs:label "xerophthalmia" @@ -4489,24 +4497,24 @@ MONDO:0010579 rdfs:label "X-linked corneal dermoid" MONDO:0000233 rdfs:label "Japanese spotted fever" MONDO:0003189 rdfs:label "middle ear adenocarcinoma" MONDO:0006136 rdfs:label "obsolete cervical endometrioid adenocarcinoma" +MONDO:0000623 rdfs:label "obsolete organ system benign neoplasm" BFO:0000004 rdfs:label "independent continuant" BFO:0000004 rdfs:label "independent continuant"@en -MONDO:0000623 rdfs:label "obsolete organ system benign neoplasm" http://identifiers.org/hgnc/678 rdfs:label "ARHGDIA" UBERON:0007794 rdfs:label "secretion of serous gland" CHR:9606-chr19q13.11 rdfs:label "19q13.11 (Human)" MONDO:0013175 rdfs:label "retinitis pigmentosa 50" http://identifiers.org/hgnc/25280 rdfs:label "ODAD4" MONDO:0014121 rdfs:label "autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures" -MONDO:0017190 rdfs:label "sporadic pheochromocytoma/secreting paraganglioma" GO:0034760 rdfs:label "negative regulation of iron ion transmembrane transport" +MONDO:0017190 rdfs:label "sporadic pheochromocytoma/secreting paraganglioma" UBERON:0001032 rdfs:label "sensory system" http://identifiers.org/hgnc/15925 rdfs:label "SAMHD1" MONDO:0002804 rdfs:label "apocrine adenoma" CHEBI:26155 rdfs:label "plant growth regulator" http://identifiers.org/hgnc/28722 rdfs:label "COQ5" -MONDO:0030455 rdfs:label "dystonia 31" UBERON:0013232 rdfs:label "serous acinus" +MONDO:0030455 rdfs:label "dystonia 31" MONDO:0008774 rdfs:label "2-aminoadipic 2-oxoadipic aciduria" MONDO:0043537 rdfs:label "cluster headache syndrome" MONDO:0011183 rdfs:label "Paget disease of bone 2, early-onset" @@ -4583,10 +4591,10 @@ MONDO:0043726 rdfs:label "multiple organ dysfunction syndrome" MONDO:0016098 rdfs:label "immune-mediated necrotizing myopathy" MONDO:0013929 rdfs:label "autosomal recessive nonsyndromic hearing loss 98" GO:0050968 rdfs:label "detection of chemical stimulus involved in sensory perception of pain" +UBERON:0015795 rdfs:label "right lung lobar bronchus epitheium" MONDO:0000625 rdfs:label "benign male reproductive system neoplasm" MONDO:0009779 rdfs:label "autosomal recessive omodysplasia" HP:0011220 rdfs:label "Prominent forehead" -UBERON:0015795 rdfs:label "right lung lobar bronchus epitheium" HP:0001371 rdfs:label "Flexion contracture" MONDO:0019474 rdfs:label "hepatosplenic T-cell lymphoma" NCBITaxon:222544 rdfs:label "Sordariomycetidae" @@ -4677,18 +4685,19 @@ http://identifiers.org/hgnc/600 rdfs:label "APOA1" MONDO:0022644 rdfs:label "cardiac hydatid cysts with intracavitary expansion" UBERON:0015082 rdfs:label "proximal tarsal cartilage" MONDO:0023155 rdfs:label "fibula aplasia complex brachydactyly" +http://identifiers.org/hgnc/12013 rdfs:label "TPM4" NCBITaxon:1264859 rdfs:label "Entomophthoromycotina" MONDO:0011926 rdfs:label "psoriasis 9, susceptibility to" GO:0007267 rdfs:label "cell-cell signaling" UBERON:0001245 rdfs:label "anus" MONDO:0008156 rdfs:label "autosomal dominant osteopetrosis 2" http://identifiers.org/hgnc/16783 rdfs:label "CDC73" +UBERON:0014699 rdfs:label "extraembryonic venous system" MONDO:0030025 rdfs:label "neurodevelopmental disorder with hypotonia, microcephaly, and seizures" MONDO:0011505 rdfs:label "familial hypobetalipoproteinemia 2" MONDO:0005470 rdfs:label "postprandial hypotension" MONDO:0017665 rdfs:label "obsolete rare genetic disease with myoclonus as a major feature" GO:0050818 rdfs:label "regulation of coagulation" -UBERON:0014699 rdfs:label "extraembryonic venous system" BFO:0000006 rdfs:label "spatial region"@en MONDO:0008987 rdfs:label "obsolete cirrhosis, familial" MONDO:0007670 rdfs:label "hypotrichosis-lymphedema-telangiectasia syndrome (grouping)" @@ -4751,16 +4760,16 @@ MONDO:0020121 rdfs:label "muscular dystrophy" MONDO:0010232 rdfs:label "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked" MONDO:0001479 rdfs:label "cutaneous diphtheria" MONDO:0000225 rdfs:label "human monocytic ehrlichiosis" -NCBITaxon:89593 rdfs:label "Craniata " UBERON:0008823 rdfs:label "neural tube derived brain" +NCBITaxon:89593 rdfs:label "Craniata " http://identifiers.org/hgnc/21406 rdfs:label "RARS2" MONDO:0002425 rdfs:label "rectosigmoid junction cancer" GO:0002776 rdfs:label "antimicrobial peptide secretion" MONDO:0022423 rdfs:label "obsolete alpha-2 deficient collagen disease" MONDO:0010314 rdfs:label "polymicrogyria, bilateral perisylvian, X-linked" UBERON:0012299 rdfs:label "mucosa of urethra" -MONDO:0014130 rdfs:label "Dowling-Degos disease 2" http://identifiers.org/hgnc/11926 rdfs:label "TNFSF11" +MONDO:0014130 rdfs:label "Dowling-Degos disease 2" UBERON:0009639 rdfs:label "body of sphenoid" UBERON:0036267 rdfs:label "vulval vein" MONDO:0000561 rdfs:label "spinocerebellar ataxia type 16" @@ -4772,16 +4781,16 @@ MONDO:0007102 rdfs:label "amyotrophic dystonic paraplegia" NCBITaxon:188543 rdfs:label "Demodicidae" http://identifiers.org/hgnc/19661 rdfs:label "TNNI3K" MONDO:0020856 rdfs:label "bone marrow failure syndrome 4" -MONDO:0002740 rdfs:label "uterine ligament mucinous adenocarcinoma" NCBITaxon:4753 rdfs:label "Pneumocystis" +MONDO:0002740 rdfs:label "uterine ligament mucinous adenocarcinoma" MONDO:0013371 rdfs:label "dilated cardiomyopathy 1U" UBERON:0003394 rdfs:label "mesentery of hindgut" http://identifiers.org/hgnc/23041 rdfs:label "PDSS2" UBERON:0004340 rdfs:label "allantois" MONDO:0023005 rdfs:label "double uterus-hemivagina-renal agenesis" -UBERON:0018132 rdfs:label "tail fat pad" CL:2000085 rdfs:label "mononuclear cell of umbilical cord" MONDO:0016042 rdfs:label "late-onset isolated ACTH deficiency" +UBERON:0018132 rdfs:label "tail fat pad" UBERON:0002118 rdfs:label "right ovary" MONDO:0017253 rdfs:label "obsolete anterior uveitis" MONDO:0019559 rdfs:label "hypertrophic or verrucous lupus erythematosus" @@ -4819,17 +4828,17 @@ http://identifiers.org/hgnc/29605 rdfs:label "SH2B3" MONDO:0032896 rdfs:label "spermatogenic failure 42" MONDO:0015486 rdfs:label "keratoconus" CHEBI:35238 rdfs:label "amino acid zwitterion" +UBERON:0007281 rdfs:label "presumptive midbrain hindbrain boundary" NCBITaxon:693660 rdfs:label "unclassified Primate lentivirus group" NCBITaxon:53550 rdfs:label "Culicini" MONDO:0006052 rdfs:label "pulmonary tuberculosis" -UBERON:0007281 rdfs:label "presumptive midbrain hindbrain boundary" HP:0012757 rdfs:label "Abnormal neuron morphology" UBERON:0011277 rdfs:label "nail of manual digit 5" GO:2001212 rdfs:label "regulation of vasculogenesis" PATO:0000964 rdfs:label "transparent" -GO:0060271 rdfs:label "cilium assembly" MONDO:0012476 rdfs:label "hereditary spastic paraplegia 30" MONDO:0011222 rdfs:label "glaucoma 1, open angle, D" +GO:0060271 rdfs:label "cilium assembly" MONDO:0014445 rdfs:label "Bardet-Biedl syndrome 17" MONDO:0000195 rdfs:label "obsolete atrial standstill" http://identifiers.org/hgnc/25994 rdfs:label "NSUN2" @@ -4839,12 +4848,12 @@ HP:0000737 rdfs:label "Irritability" MONDO:0044276 rdfs:label "obsolete skin/hair/eye pigmentation, variation in, 11" http://identifiers.org/hgnc/24797 rdfs:label "FAM83H" http://identifiers.org/hgnc/13281 rdfs:label "ESPN" -UBERON:0003268 rdfs:label "tooth of lower jaw" GO:0032352 rdfs:label "positive regulation of hormone metabolic process" MONDO:0001551 rdfs:label "ulceration of vulva" ENVO:01001155 rdfs:label "astrogeological gas"@en GO:1903380 rdfs:label "positive regulation of mitotic chromosome condensation" HsapDv:0000122 rdfs:label "28-year-old human stage" +UBERON:0003268 rdfs:label "tooth of lower jaw" MONDO:0003751 rdfs:label "childhood germ cell tumor" MONDO:0011328 rdfs:label "obsolete autosomal dominant limb-girdle muscular dystrophy type 1E" MONDO:0007493 rdfs:label "torsion dystonia 4" @@ -4872,8 +4881,8 @@ MONDO:0015720 rdfs:label "moderately severe hemophilia A" MONDO:0013091 rdfs:label "glycogen storage disease IXc" MONDO:0040698 rdfs:label "subacute bursitis" http://identifiers.org/hgnc/11529 rdfs:label "EPCAM" -GO:0097186 rdfs:label "amelogenesis" http://identifiers.org/hgnc/1736 rdfs:label "CDC42" +GO:0097186 rdfs:label "amelogenesis" MONDO:0020770 rdfs:label "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3" GO:0002284 rdfs:label "myeloid dendritic cell differentiation involved in immune response" MONDO:0010902 rdfs:label "spondyloepiphyseal dysplasia, Reardon type" @@ -4994,11 +5003,11 @@ GO:0042737 rdfs:label "drug catabolic process" MONDO:0043735 rdfs:label "osteoradionecrosis" MONDO:0011381 rdfs:label "dominant beta-thalassemia" CHEBI:25248 rdfs:label "methyl ester" +UBERON:0004189 rdfs:label "glomerular endothelium" MONDO:0013581 rdfs:label "intellectual disability, autosomal dominant 2" MONDO:0002016 rdfs:label "benign familial neonatal epilepsy" UBERON:0002350 rdfs:label "conducting system of heart" MONDO:0003574 rdfs:label "external ear cancer" -UBERON:0004189 rdfs:label "glomerular endothelium" MONDO:0044268 rdfs:label "obsolete transsexuality" MONDO:0017696 rdfs:label "glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form" MONDO:0100092 rdfs:label "myoclonus, familial, 2" @@ -5107,11 +5116,11 @@ MONDO:0016099 rdfs:label "overlap myositis" MONDO:0019046 rdfs:label "leukodystrophy" MONDO:0014812 rdfs:label "obsolete metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" NCBITaxon:84642 rdfs:label "Aeromonadaceae" -MONDO:0017002 rdfs:label "polysomy of X chromosome" +MONDO:0017002 rdfs:label "obsolete polysomy of X chromosome" http://identifiers.org/hgnc/11582 rdfs:label "TBCE" MONDO:0018560 rdfs:label "anterior urethral valve" -MONDO:0001395 rdfs:label "macular keratitis" MONDO:0019128 rdfs:label "mullerian aplasia" +MONDO:0001395 rdfs:label "macular keratitis" MONDO:0007298 rdfs:label "spinocerebellar ataxia type 29" UBERON:0016879 rdfs:label "future central nervous system" MONDO:0012991 rdfs:label "Kahrizi syndrome" @@ -5127,8 +5136,8 @@ MONDO:0100257 rdfs:label "peroxisomal single enzyme/protein defect" http://identifiers.org/hgnc/3688 rdfs:label "FGFR1" UBERON:0008785 rdfs:label "upper limb segment" MONDO:0001638 rdfs:label "protein-deficiency anemia" -HP:0007550 rdfs:label "Hypohidrosis or hyperhidrosis" ENVO:01001479 rdfs:label "fluid astronomical body part"@en +HP:0007550 rdfs:label "Hypohidrosis or hyperhidrosis" http://identifiers.org/hgnc/31923 rdfs:label "LCA5" CHEBI:32600 rdfs:label "tetracene" MONDO:0003838 rdfs:label "obsolete malignant ACTH producing neoplasm of pituitary gland" @@ -5163,8 +5172,8 @@ http://identifiers.org/hgnc/9905 rdfs:label "RBM8A" MONDO:0006169 rdfs:label "complex endometrial hyperplasia" MONDO:0005399 rdfs:label "venous thromboembolism" MONDO:0002272 rdfs:label "polyclonal hypergammaglobulinemia" -UBERON:0001033 rdfs:label "gustatory system" MONDO:0011010 rdfs:label "Matthew-Wood syndrome" +UBERON:0001033 rdfs:label "gustatory system" MONDO:0006345 rdfs:label "palmar fibromatosis" MONDO:0024416 rdfs:label "Neorickettsia infectious disease" MONDO:0009545 rdfs:label "macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance" @@ -5226,8 +5235,8 @@ UBERON:0011590 rdfs:label "commissure of diencephalon" MONDO:0044641 rdfs:label "9q33.3q34.11 microdeletion syndrome" MONDO:0011621 rdfs:label "acropectoral syndrome" GO:0097028 rdfs:label "dendritic cell differentiation" -GO:1905821 rdfs:label "positive regulation of chromosome condensation" MONDO:0021657 rdfs:label "ovarian sex cord-stromal tumor" +GO:1905821 rdfs:label "positive regulation of chromosome condensation" ENVO:01000203 rdfs:label "environmental condition" MONDO:0016264 rdfs:label "autoimmune hepatitis" MONDO:0015010 rdfs:label "atypical glycine encephalopathy" @@ -5412,13 +5421,13 @@ UBERON:0011004 rdfs:label "pharyngeal arch cartilage" GO:0008037 rdfs:label "cell recognition" UBERON:0003269 rdfs:label "skeletal muscle tissue of eye" MONDO:0011329 rdfs:label "obsolete cerebral palsy, spastic quadriplegic, 1" +CHR:9606-chr7q31 rdfs:label "7q31 (Human)" GO:0006725 rdfs:label "cellular aromatic compound metabolic process" GO:0030278 rdfs:label "regulation of ossification" -CHR:9606-chr7q31 rdfs:label "7q31 (Human)" MONDO:0007494 rdfs:label "obsolete episodic kinesigenic dyskinesia 1" -GO:0051098 rdfs:label "regulation of binding" CL:0000775 rdfs:label "neutrophil" HP:0002917 rdfs:label "Hypomagnesemia" +GO:0051098 rdfs:label "regulation of binding" HP:0010976 rdfs:label "B lymphocytopenia" UBERON:0006645 rdfs:label "adventitia of epididymis" MONDO:0009312 rdfs:label "lipodystrophy due to peptidic growth factors deficiency" @@ -5442,9 +5451,9 @@ MONDO:0000562 rdfs:label "obsolete hypomyelinating leukoencephalopathy" MONDO:0008300 rdfs:label "Prader-Willi syndrome" MONDO:0013467 rdfs:label "immunodeficiency due to ficolin3 deficiency" GO:0002285 rdfs:label "lymphocyte activation involved in immune response" -MONDO:0022760 rdfs:label "chromosome 22q deletion" MONDO:0011193 rdfs:label "cone dystrophy 3" MONDO:0001709 rdfs:label "hypercalcemic sarcoidosis" +MONDO:0022760 rdfs:label "chromosome 22q deletion" GO:0001868 rdfs:label "regulation of complement activation, lectin pathway" CHEBI:25388 rdfs:label "monohydroxybenzoate" MONDO:0007103 rdfs:label "amyotrophic lateral sclerosis type 1" @@ -5498,8 +5507,8 @@ MONDO:0020374 rdfs:label "cerulean cataract" CHEBI:53368 rdfs:label "ionic macromolecule" MONDO:0010485 rdfs:label "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome" http://identifiers.org/hgnc/26219 rdfs:label "FUZ" -MONDO:0001552 rdfs:label "dyscalculia" MONDO:0020550 rdfs:label "gestational choriocarcinoma" +MONDO:0001552 rdfs:label "dyscalculia" UBERON:0000080 rdfs:label "mesonephros" MONDO:0010506 rdfs:label "intellectual disability, X-linked 61" MONDO:0003752 rdfs:label "frontal sinus Schneiderian papilloma" @@ -5522,11 +5531,11 @@ GO:0100017 rdfs:label "obsolete negative regulation of cell-cell adhesion by tra MONDO:0018600 rdfs:label "congenital abducens nerve palsy" MONDO:0014648 rdfs:label "Al-Raqad syndrome" http://identifiers.org/hgnc/3663 rdfs:label "FGD1" -UBERON:0006810 rdfs:label "olecranon" MONDO:0042488 rdfs:label "Cestode infectious disease" MONDO:0002993 rdfs:label "pancreatic somatostatinoma" -MONDO:0011947 rdfs:label "obsolete HNP1" +UBERON:0006810 rdfs:label "olecranon" MONDO:0000412 rdfs:label "neonatal period electroclinical syndrome" +MONDO:0011947 rdfs:label "obsolete HNP1" MONDO:0006315 rdfs:label "obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm" NCBITaxon:2169991 rdfs:label "Argentinian mammarenavirus" UBERON:0005613 rdfs:label "left dorsal aorta" @@ -5541,7 +5550,7 @@ UBERON:0009695 rdfs:label "epithelium of laryngopharynx" NCBITaxon:2508209 rdfs:label "Tobaniviridae" MONDO:0008691 rdfs:label "zinc, elevated plasma" MONDO:0019632 rdfs:label "Lyme disease" -MONDO:0014320 rdfs:label "optic atrophy-intellectual disability syndrome" +MONDO:0014320 rdfs:label "Bosch-Boonstra-Schaaf optic atrophy syndrome" MFOMD:0000024 rdfs:label "pathological mental process" CP:0000027 rdfs:label "acidophilic cytoplasm" CL:1001111 rdfs:label "kidney loop of Henle thin descending limb epithelial cell" @@ -5605,9 +5614,9 @@ MONDO:0009685 rdfs:label "Miyoshi myopathy" MONDO:0003050 rdfs:label "lung large cell carcinoma" MONDO:0015934 rdfs:label "non-syndromic urogenital tract malformation of male and female" MONDO:0005009 rdfs:label "congestive heart failure" +UBERON:0007158 rdfs:label "lumen of anal canal" UBERON:0001255 rdfs:label "urinary bladder" MONDO:0006567 rdfs:label "kernicterus due to isoimmunization" -UBERON:0007158 rdfs:label "lumen of anal canal" MONDO:0008470 rdfs:label "spondyloepiphyseal dysplasia with punctate corneal dystrophy" MONDO:0005480 rdfs:label "contact dermatitis" MONDO:0008997 rdfs:label "obsolete Cockayne syndrome A" @@ -5666,8 +5675,8 @@ CHEBI:25414 rdfs:label "monoatomic monocation" MONDO:0004616 rdfs:label "herpetic whitlow" GO:0019218 rdfs:label "regulation of steroid metabolic process" GO:0010672 rdfs:label "regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle" -MONDO:0020576 rdfs:label "cutaneous vasculitis" UBERON:0004203 rdfs:label "cortical collecting duct" +MONDO:0020576 rdfs:label "cutaneous vasculitis" MONDO:0017862 rdfs:label "paraquat poisoning" http://identifiers.org/hgnc/1033 rdfs:label "BDNF" http://identifiers.org/hgnc/19317 rdfs:label "P3H2" @@ -5716,8 +5725,8 @@ MONDO:0100479 rdfs:label "rifampicin-resistant tuberculosis" UBERON:0035508 rdfs:label "branch of posterior cerebral artery" GO:0016879 rdfs:label "ligase activity, forming carbon-nitrogen bonds" MONDO:0002273 rdfs:label "plasma protein metabolism disease" -MONDO:0024417 rdfs:label "perceptual disorders" GO:0030317 rdfs:label "flagellated sperm motility" +MONDO:0024417 rdfs:label "perceptual disorders" GO:1903049 rdfs:label "negative regulation of acetylcholine-gated cation channel activity" MONDO:0018665 rdfs:label "X-linked acrogigantism due to a point mutation" MONDO:0009546 rdfs:label "macrosomia adiposa congenita" @@ -5806,9 +5815,9 @@ MONDO:0008379 rdfs:label "retinitis pigmentosa 10" UBERON:0006615 rdfs:label "venous sinus" MONDO:0018444 rdfs:label "obsolete female infertility due to fertilization defect" UBERON:0004867 rdfs:label "orbital cavity" +UBERON:0011864 rdfs:label "tendon collagen fibril" MONDO:0006511 rdfs:label "obsolete developmental dysplasia of the hip" http://identifiers.org/hgnc/791 rdfs:label "ATF6" -UBERON:0011864 rdfs:label "tendon collagen fibril" MONDO:0100423 rdfs:label "acute myeloid leukemia, PTPN11 gene mutation" MONDO:0010863 rdfs:label "type 1 diabetes mellitus 5" http://identifiers.org/hgnc/4800 rdfs:label "HSD17B10" @@ -5963,8 +5972,8 @@ MONDO:0015722 rdfs:label "congenital vitamin K-dependent coagulation factors def MONDO:0009430 rdfs:label "hypophosphatemic rickets, autosomal recessive, 1" MONDO:0013093 rdfs:label "glioma susceptibility 3" UBERON:0004008 rdfs:label "cerebellar plate" -MONDO:0043195 rdfs:label "rubinstein taybi like syndrome" CL:0009033 rdfs:label "plasma cell of appendix" +MONDO:0043195 rdfs:label "Rubinstein Taybi like syndrome" UBERON:0003292 rdfs:label "meninx of spinal cord" HP:0001004 rdfs:label "Lymphedema" MONDO:0020772 rdfs:label "epilepsy, juvenile absence, susceptibility to, 1" @@ -6080,8 +6089,8 @@ MONDO:0019446 rdfs:label "localized lichen myxedematosus" GO:0008203 rdfs:label "cholesterol metabolic process" MONDO:0030362 rdfs:label "Aicardi-Goutieres syndrome 9" MONDO:0000636 rdfs:label "musculoskeletal system benign neoplasm" -FOODON:00002581 rdfs:label "aquatic invertebrate"@en MONDO:0024472 rdfs:label "boutonneuse fever" +FOODON:00002581 rdfs:label "aquatic invertebrate"@en GO:0061512 rdfs:label "protein localization to cilium" http://identifiers.org/hgnc/3026 rdfs:label "DRD5" MONDO:0015241 rdfs:label "arthrogryposis-like syndrome" @@ -6130,9 +6139,9 @@ MONDO:0021351 rdfs:label "neoplasm of neck" HP:0002493 rdfs:label "Upper motor neuron dysfunction" MONDO:0005095 rdfs:label "spondyloarthropathy" http://identifiers.org/hgnc/9577 rdfs:label "PSPH" +http://identifiers.org/hgnc/8490 rdfs:label "ORC4" MONDO:0009686 rdfs:label "musk, inability to smell" MONDO:0009339 rdfs:label "congenital bile acid synthesis defect 2" -http://identifiers.org/hgnc/8490 rdfs:label "ORC4" MONDO:0015935 rdfs:label "extragonadal germinoma" MONDO:0020154 rdfs:label "microblepharon-ablephara syndrome" SO:0000248 rdfs:label "sequence_length_alteration" @@ -6172,9 +6181,9 @@ GO:0035930 rdfs:label "corticosteroid hormone secretion" MONDO:0008471 rdfs:label "spondyloepiphyseal dysplasia congenita" MONDO:0005481 rdfs:label "contact dermatitis due to nickel" MONDO:0016422 rdfs:label "autoimmune polyendocrinopathy type 3" +UBERON:0000059 rdfs:label "large intestine" MONDO:0017980 rdfs:label "syngnathia multiple anomalies" MONDO:0008998 rdfs:label "Cockayne syndrome type 3" -UBERON:0000059 rdfs:label "large intestine" http://identifiers.org/hgnc/25302 rdfs:label "COQ9" UBERON:0014402 rdfs:label "sex-specific anatomical structure" MONDO:0009944 rdfs:label "pyloric atresia" @@ -6216,13 +6225,13 @@ CHEBI:149689 rdfs:label "D-dopa zwitterion" MONDO:0012856 rdfs:label "Birk-Barel syndrome" HP:0100584 rdfs:label "Endocarditis" GO:0008047 rdfs:label "enzyme activator activity" -MONDO:0100094 rdfs:label "cannabinoid hyperemesis syndrome" MONDO:0013802 rdfs:label "infantile cerebellar-retinal degeneration" +MONDO:0100094 rdfs:label "cannabinoid hyperemesis syndrome" UBERON:0006009 rdfs:label "cusp of cardiac valve" http://identifiers.org/hgnc/6161 rdfs:label "ITGB6" UBERON:0009767 rdfs:label "proximal interphalangeal joint" -http://identifiers.org/hgnc/12601 rdfs:label "USH2A" MONDO:0019269 rdfs:label "ichthyosis" +http://identifiers.org/hgnc/12601 rdfs:label "USH2A" MONDO:0004617 rdfs:label "recurrent hypersomnia" MONDO:0035362 rdfs:label "TRIM22-related inflammatory bowel disease" GO:0010673 rdfs:label "positive regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle" @@ -6230,8 +6239,8 @@ MONDO:0009274 rdfs:label "ghosal hematodiaphyseal dysplasia" UBERON:0004204 rdfs:label "outer medullary collecting duct" MONDO:0017225 rdfs:label "null syndrome" MONDO:0008106 rdfs:label "nystagmus 2, congenital, autosomal dominant" -NCBITaxon:2682482 rdfs:label "Mastigamoebida" HP:0030681 rdfs:label "Abnormal morphology of myocardial trabeculae" +NCBITaxon:2682482 rdfs:label "Mastigamoebida" MONDO:0031219 rdfs:label "mismatch repair cancer syndrome" MONDO:0010371 rdfs:label "Aland island eye disease" MONDO:0041447 rdfs:label "metastatic malignant neoplasm in the colon" @@ -6246,8 +6255,8 @@ MONDO:0044709 rdfs:label "cochleovestibular dysplasia" MONDO:0044200 rdfs:label "T-B+ severe combined immunodeficiency" UBERON:0005777 rdfs:label "glomerular basement membrane" MONDO:0016968 rdfs:label "partial trisomy of the long arm of chromosome 18" -GO:0045981 rdfs:label "positive regulation of nucleotide metabolic process" MONDO:0017193 rdfs:label "symptomatic form of Coffin-Lowry syndrome in female carriers" +GO:0045981 rdfs:label "positive regulation of nucleotide metabolic process" MONDO:0016170 rdfs:label "chronic polyradiculoneuropathy" MONDO:0002807 rdfs:label "bronchial neoplasm" MONDO:0005260 rdfs:label "autism" @@ -6264,9 +6273,9 @@ NCBITaxon:337677 rdfs:label "Cricetidae" NCBITaxon:33317 rdfs:label "Protostomia" NCBITaxon:1437197 rdfs:label "Petrosaviidae" NCBITaxon:2732514 rdfs:label "Revtraviricetes" -http://identifiers.org/hgnc/8847 rdfs:label "PER3" MONDO:0017572 rdfs:label "tick-borne encephalitis" MONDO:0004389 rdfs:label "mite infestation" +http://identifiers.org/hgnc/8847 rdfs:label "PER3" CHEBI:37324 rdfs:label "7,8-dimethylbenzo[g]pteridine-2,4-dione" MONDO:0019698 rdfs:label "bent bone dysplasia" MONDO:0013132 rdfs:label "hereditary spastic paraplegia 36" @@ -6399,8 +6408,8 @@ MONDO:0005628 rdfs:label "male breast carcinoma" MONDO:0016674 rdfs:label "46,XY partial gonadal dysgenesis" MONDO:0100133 rdfs:label "mitochondrial complex I deficiency" MONDO:0013796 rdfs:label "chromosome 17q12 duplication syndrome" -UBERON:0007606 rdfs:label "ciliated stratified columnar epithelium" UBERON:0007270 rdfs:label "pelvic appendage musculature" +UBERON:0007606 rdfs:label "ciliated stratified columnar epithelium" CL:0009032 rdfs:label "B cell of appendix" MONDO:0016162 rdfs:label "bilateral frontal polymicrogyria" UBERON:0004135 rdfs:label "distal tubule" @@ -6413,8 +6422,8 @@ MONDO:0008276 rdfs:label "generalized juvenile polyposis/juvenile polyposis coli UBERON:0010426 rdfs:label "oropharyngeal choana" MONDO:0015779 rdfs:label "45,X/46,XY mixed gonadal dysgenesis" MONDO:0005286 rdfs:label "palatal neoplasm" -MONDO:0018341 rdfs:label "3q27.3 microdeletion syndrome" MONDO:0011625 rdfs:label "autosomal dominant nonsyndromic hearing loss 18" +MONDO:0018341 rdfs:label "3q27.3 microdeletion syndrome" MONDO:0004869 rdfs:label "pelvic varices" MONDO:0006232 rdfs:label "giant cell tumor of soft tissue" UBERON:0003397 rdfs:label "mesentery of duodenum" @@ -6513,8 +6522,8 @@ http://identifiers.org/hgnc/4795 rdfs:label "H6PD" MONDO:0017902 rdfs:label "autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" http://identifiers.org/hgnc/4624 rdfs:label "GSS" MONDO:0012887 rdfs:label "inflammatory bowel disease 23" -GO:0034101 rdfs:label "erythrocyte homeostasis" MONDO:0013961 rdfs:label "hypogonadotropic hypogonadism 16 with or without anosmia" +GO:0034101 rdfs:label "erythrocyte homeostasis" MONDO:0015077 rdfs:label "adrenal/paraganglial tumor" ENVO:01001216 rdfs:label "ultraviolet stellar radiation"@en CHEBI:131699 rdfs:label "EC 2.7.7.7 (DNA-directed DNA polymerase) inhibitor" @@ -6783,10 +6792,10 @@ MONDO:0017573 rdfs:label "46,XX disorder of sex development-anorectal anomalies MONDO:0017226 rdfs:label "Pelizaeus-Merzbacher-like disease" MONDO:0008107 rdfs:label "nystagmus, hereditary vertical" MONDO:0001406 rdfs:label "peripheral nervous system neoplasm" -MONDO:0013133 rdfs:label "melanoma, cutaneous malignant, susceptibility to, 5" MONDO:0001007 rdfs:label "chronic meningitis" CHR:9606-chr15q13.3 rdfs:label "15q13.3 (Human)" MONDO:0000237 rdfs:label "erysipeloid" +MONDO:0013133 rdfs:label "melanoma, cutaneous malignant, susceptibility to, 5" http://identifiers.org/hgnc/31582 rdfs:label "MIR204" GO:0019953 rdfs:label "sexual reproduction" GO:0062149 rdfs:label "detection of stimulus involved in sensory perception of pain" @@ -6857,13 +6866,13 @@ HP:0001962 rdfs:label "Palpitations" ECTO:9000049 rdfs:label "exposure to carbon dioxide" MONDO:0006064 rdfs:label "obsolete lactose intolerance" http://identifiers.org/hgnc/29529 rdfs:label "TBL1XR1" -MONDO:0017005 rdfs:label "Y chromosome number anomaly" +MONDO:0017005 rdfs:label "obsolete Y chromosome number anomaly" MONDO:0030981 rdfs:label "immunodeficiency 79" MONDO:0018563 rdfs:label "adactyly of foot" MONDO:0007010 rdfs:label "obsolete uveitis" MONDO:0010151 rdfs:label "tricarboxylic acid cycle, defect of" -MONDO:0001398 rdfs:label "ureter benign neoplasm" NCBITaxon:424551 rdfs:label "Solanoideae" +MONDO:0001398 rdfs:label "ureter benign neoplasm" MONDO:0023557 rdfs:label "infective vaginitis" MONDO:0002472 rdfs:label "carcinoma ex pleomorphic adenoma" CL:0009004 rdfs:label "retinal cell" @@ -6924,13 +6933,13 @@ http://identifiers.org/hgnc/28949 rdfs:label "IQCB1" http://identifiers.org/hgnc/21061 rdfs:label "SERAC1" CHEBI:36587 rdfs:label "organic oxo compound" CL:0000335 rdfs:label "mesenchyme condensation cell" -MONDO:0012395 rdfs:label "cataract 18" UBERON:2001950 rdfs:label "inter-premaxillary joint" -MONDO:0002275 rdfs:label "generalized atherosclerosis" -MONDO:0019864 rdfs:label "tetrasomy 21" +NCBITaxon:138949 rdfs:label "Enterovirus B" +MONDO:0012395 rdfs:label "cataract 18" MONDO:0020346 rdfs:label "synaptic congenital myasthenic syndrome" +MONDO:0019864 rdfs:label "tetrasomy 21" +MONDO:0002275 rdfs:label "generalized atherosclerosis" MONDO:0010457 rdfs:label "Ogden syndrome" -NCBITaxon:138949 rdfs:label "Enterovirus B" MONDO:0020522 rdfs:label "Ehlers-Danlos syndrome type 7B" GO:0050885 rdfs:label "neuromuscular process controlling balance" MONDO:0005651 rdfs:label "arenavirus hemorrhagic fever" @@ -6959,9 +6968,9 @@ MONDO:0018166 rdfs:label "oral submucous fibrosis" MONDO:0017396 rdfs:label "toxic dermatosis" MONDO:0008277 rdfs:label "stomach polyp" UBERON:0010427 rdfs:label "ciliary processes" +UBERON:0009712 rdfs:label "endocardium of right ventricle" MONDO:0005287 rdfs:label "developmental disability" PATO:0002507 rdfs:label "keratinous" -UBERON:0009712 rdfs:label "endocardium of right ventricle" MONDO:0011626 rdfs:label "acromegaloid features, overgrowth, cleft palate, and hernia" MONDO:0000330 rdfs:label "endemic typhus" MONDO:0006233 rdfs:label "gonadal teratoma" @@ -6970,8 +6979,8 @@ MONDO:0008663 rdfs:label "snowflake vitreoretinal degeneration" MONDO:0013218 rdfs:label "exudative vitreoretinopathy 5" MONDO:0003724 rdfs:label "non-proliferative fibrocystic change of the breast" NCBITaxon:90964 rdfs:label "Staphylococcaceae" -MONDO:0045063 rdfs:label "major salivary gland adenoid cystic carcinoma" MONDO:0001563 rdfs:label "vestibulocochlear nerve disorder" +MONDO:0045063 rdfs:label "major salivary gland adenoid cystic carcinoma" MONDO:0007466 rdfs:label "DNA, satellite, 3" MONDO:0010517 rdfs:label "ciliary dyskinesia, primary, 36, X-linked" CHR:9606-chr16p13.1 rdfs:label "16p13.1 (Human)" @@ -6990,10 +6999,10 @@ MONDO:0002965 rdfs:label "parovarian cyst" MONDO:0012206 rdfs:label "Czech dysplasia, metatarsal type" MONDO:0014659 rdfs:label "infantile liver failure syndrome 2" MONDO:0003911 rdfs:label "ciliary body mixed cell melanoma" -HP:0001635 rdfs:label "Congestive heart failure" MONDO:0019738 rdfs:label "atypical hemolytic-uremic syndrome with H factor anomaly" +HP:0001635 rdfs:label "Congestive heart failure" MONDO:0034846 rdfs:label "primary desmosis coli" -MONDO:0020060 rdfs:label "gonosome structural anomaly" +MONDO:0020060 rdfs:label "obsolete gonosome structural anomaly" SO:0000443 rdfs:label "polymer_attribute" http://identifiers.org/hgnc/13890 rdfs:label "ITCH" MONDO:0004579 rdfs:label "retinoschisis" @@ -7086,8 +7095,8 @@ UBERON:0001637 rdfs:label "artery" MONDO:0003326 rdfs:label "intermixed schwannian stroma-rich ganglioneuroblastoma" MONDO:0007503 rdfs:label "ear without helix" UBERON:0003837 rdfs:label "thoracic segment connective tissue" -IAO:8000010 rdfs:label "exclusion subset ontology module"@en MONDO:0012208 rdfs:label "congenital reticular ichthyosiform erythroderma" +IAO:8000010 rdfs:label "exclusion subset ontology module"@en MONDO:0011039 rdfs:label "atrophia maculosa varioliformis cutis, familial" MONDO:0006702 rdfs:label "chronic inflammatory demyelinating polyradiculoneuropathy" MONDO:0009883 rdfs:label "alpha-2-plasmin inhibitor deficiency" @@ -7121,8 +7130,8 @@ UBERON:0005147 rdfs:label "metanephric renal vesicle" MONDO:0013812 rdfs:label "Baraitser-winter syndrome 2" MONDO:0001555 rdfs:label "neonatal thyrotoxicosis" http://identifiers.org/hgnc/30794 rdfs:label "CEP57" -UBERON:0004346 rdfs:label "gubernaculum (male or female)" MONDO:0003755 rdfs:label "urinary tract non-invasive transitional cell neoplasm" +UBERON:0004346 rdfs:label "gubernaculum (male or female)" http://identifiers.org/hgnc/10411 rdfs:label "RPS24" UBERON:0006273 rdfs:label "otic pit" MONDO:0015841 rdfs:label "partial septate uterus" @@ -7307,8 +7316,8 @@ MONDO:0032706 rdfs:label "spinocerebellar ataxia, autosomal recessive 27" MONDO:0015939 rdfs:label "obsolete systemic autoimmune disease" UBERON:0002270 rdfs:label "hyaloid artery" MONDO:0014804 rdfs:label "sideroblastic anemia 3" -UBERON:0010330 rdfs:label "eyelid mesenchyme" UBERON:0004470 rdfs:label "musculature of pelvic girdle" +UBERON:0010330 rdfs:label "eyelid mesenchyme" MONDO:0012552 rdfs:label "multiple endocrine neoplasia type 4" MONDO:0044202 rdfs:label "episodic kinesigenic dyskinesia" NBO:0000327 rdfs:label "somatic sensation related behavior" @@ -7326,8 +7335,8 @@ CHEBI:25985 rdfs:label "phenylalanine derivative" MONDO:0000300 rdfs:label "obsolete tungiasis" NCBITaxon:71585 rdfs:label "Balantioides coli" MONDO:0006954 rdfs:label "obsolete rheumatic fever" -MONDO:0023040 rdfs:label "ectodermal dysplasia Bartalos type" http://identifiers.org/hgnc/21606 rdfs:label "MPC1" +MONDO:0023040 rdfs:label "ectodermal dysplasia Bartalos type" GO:0016101 rdfs:label "diterpenoid metabolic process" MONDO:0020778 rdfs:label "cone-rod dystrophy and hearing loss 1" UBERON:0005501 rdfs:label "rhombomere lateral wall" @@ -7406,7 +7415,7 @@ UBERON:0011203 rdfs:label "urachus mesenchyme" MONDO:0011456 rdfs:label "nephronophthisis 3" MONDO:0008499 rdfs:label "short stature-wormian bones-dextrocardia syndrome" MONDO:0030982 rdfs:label "sulfide quinone oxidoreductase deficiency" -MONDO:0017006 rdfs:label "X and Y chromosomal anomaly" +MONDO:0017006 rdfs:label "obsolete X and Y chromosomal anomaly" MONDO:0018564 rdfs:label "3p25.3 microdeletion syndrome" MONDO:0012402 rdfs:label "opioid dependence, susceptibility to, 1" CL:0002569 rdfs:label "mesenchymal stem cell of umbilical cord" @@ -7480,8 +7489,8 @@ GO:0050886 rdfs:label "endocrine process" MONDO:0005652 rdfs:label "Arterivirus infectious disease" MONDO:0008023 rdfs:label "muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome" UBERON:0004293 rdfs:label "parasympathetic nerve" -MAXO:0000058 rdfs:label "pharmacotherapy"@en GO:0033576 rdfs:label "protein glycosylation in cytosol" +MAXO:0000058 rdfs:label "pharmacotherapy"@en MONDO:0009394 rdfs:label "juvenile Paget disease" UBERON:0004950 rdfs:label "submucosa of lobar bronchus" UBERON:0007779 rdfs:label "transudate" @@ -7529,8 +7538,8 @@ CHR:9606-chr16p13.2 rdfs:label "16p13.2 (Human)" MONDO:0004940 rdfs:label "acute female pelvic peritonitis" MONDO:0021050 rdfs:label "vaginal neoplasm" CHR:9606-chr17p13.1 rdfs:label "17p13.1 (Human)" -UBERON:0008266 rdfs:label "periodontal ligament" UBERON:0002363 rdfs:label "dura mater" +UBERON:0008266 rdfs:label "periodontal ligament" GO:0031646 rdfs:label "positive regulation of nervous system process" MONDO:0032666 rdfs:label "epidermodysplasia verruciformis, susceptibility to, 4" MONDO:0500018 rdfs:label "acute fibrinous and organizing pneumonia" @@ -7571,9 +7580,9 @@ MONDO:0012889 rdfs:label "sarcoidosis, susceptibility to, 3" UBERON:0017672 rdfs:label "abdominal viscera" GO:0034103 rdfs:label "regulation of tissue remodeling" MONDO:0013963 rdfs:label "autosomal recessive nonsyndromic hearing loss 93" +UBERON:0011197 rdfs:label "parathyroid epithelium" GO:1905787 rdfs:label "regulation of detection of mechanical stimulus involved in sensory perception of touch" http://identifiers.org/hgnc/2212 rdfs:label "COL6A2" -UBERON:0011197 rdfs:label "parathyroid epithelium" MONDO:0020349 rdfs:label "acute motor axonal neuropathy" HP:0004325 rdfs:label "Decreased body weight" MONDO:0005067 rdfs:label "monophasic synovial sarcoma" @@ -7581,8 +7590,8 @@ http://identifiers.org/hgnc/12762 rdfs:label "WFS1" MONDO:0044740 rdfs:label "salivary gland squamous cell carcinoma" ENVO:02000103 rdfs:label "metallic dust" MONDO:0003727 rdfs:label "animal phobia" -http://identifiers.org/hgnc/9588 rdfs:label "PTEN" HP:0001250 rdfs:label "Seizure" +http://identifiers.org/hgnc/9588 rdfs:label "PTEN" MONDO:0017258 rdfs:label "idiopathic panuveitis" MONDO:0008443 rdfs:label "spastic paraplegia-precocious puberty syndrome" http://identifiers.org/hgnc/3395 rdfs:label "EPHB4" @@ -7613,7 +7622,7 @@ MONDO:0000331 rdfs:label "Rickettsia helvetica spotted fever" MONDO:0006234 rdfs:label "grade III prostatic intraepithelial neoplasia" MONDO:0021720 rdfs:label "obsolete fetal alcohol spectrum disorders" http://identifiers.org/hgnc/14203 rdfs:label "JPH3" -MONDO:0007317 rdfs:label "chlorpropamide-alcohol flushing" +MONDO:0007317 rdfs:label "obsolete chlorpropamide-alcohol flushing" GO:0002711 rdfs:label "positive regulation of T cell mediated immunity" PATO:0000001 rdfs:label "quality" MONDO:0010518 rdfs:label "Wiskott-Aldrich syndrome" @@ -7625,8 +7634,8 @@ UBERON:0001571 rdfs:label "genioglossus muscle" MONDO:0018707 rdfs:label "obsolete clear cell sarcoma of kidney" MONDO:0000787 rdfs:label "obsolete tomato allergy" HP:0031816 rdfs:label "Abnormal oral morphology" -MONDO:0017991 rdfs:label "Takayasu arteritis" MONDO:0024297 rdfs:label "obsolete nutritional or metabolic disease" +MONDO:0017991 rdfs:label "Takayasu arteritis" MONDO:0001733 rdfs:label "occlusion of tributary of retinal vein" MONDO:0022985 rdfs:label "diffuse cavernous hemangioma of the rectum" MONDO:0005475 rdfs:label "migraine with aura" @@ -7639,17 +7648,17 @@ MF:0000017 rdfs:label "consciousness"@en MONDO:0007504 rdfs:label "thickened earlobes-conductive deafness syndrome" http://identifiers.org/hgnc/11100 rdfs:label "SMARCA4" UBERON:0003838 rdfs:label "abdominal segment connective tissue" -MONDO:0012209 rdfs:label "branchiogenic deafness syndrome" IAO:8000011 rdfs:label "external import ontology module"@en +MONDO:0012209 rdfs:label "branchiogenic deafness syndrome" MONDO:0019739 rdfs:label "atypical hemolytic-uremic syndrome with anti-factor H antibodies" MONDO:0009246 rdfs:label "Friedreich ataxia and congenital glaucoma" NCBITaxon:241806 rdfs:label "Polypodiopsida" -MONDO:0020061 rdfs:label "chromosome Y structural anomaly" +MONDO:0020061 rdfs:label "obsolete chromosome Y structural anomaly" MONDO:0008829 rdfs:label "chylous ascites" -MONDO:0024305 rdfs:label "acquired hyperprolactinemia" CL:2000020 rdfs:label "inner cell mass cell" http://identifiers.org/hgnc/6610 rdfs:label "LIM2" MONDO:0002146 rdfs:label "hypogonadism" +MONDO:0024305 rdfs:label "acquired hyperprolactinemia" MONDO:0008049 rdfs:label "myopathy, distal, infantile-onset" MONDO:0019187 rdfs:label "Axenfeld-Rieger syndrome" MONDO:0030602 rdfs:label "Klebsiella pneumonia" @@ -7727,8 +7736,8 @@ MONDO:0015079 rdfs:label "multiple polyglandular tumor" CL:0000408 rdfs:label "male gamete" MONDO:0044907 rdfs:label "metastatic squamous cell carcinoma" MONDO:0033563 rdfs:label "retinitis pigmentosa 90" -CL:0002608 rdfs:label "hippocampal neuron" UBERON:0035083 rdfs:label "transverse process-bearing vertebra" +CL:0002608 rdfs:label "hippocampal neuron" MONDO:0032857 rdfs:label "diarrhea 11, malabsorptive, congenital" CHR:9606-chr17 rdfs:label "chromosome 17 (Human)" MONDO:0004220 rdfs:label "endometrial endometrioid adenocarcinoma with spindled epithelial cells" @@ -7761,8 +7770,8 @@ MONDO:0019037 rdfs:label "progressive supranuclear palsy" MONDO:0014803 rdfs:label "spasticity-ataxia-gait anomalies syndrome" http://identifiers.org/hgnc/28027 rdfs:label "WDPCP" MONDO:0007840 rdfs:label "internal carotid artery, spontaneous dissection of" -UBERON:0001846 rdfs:label "internal ear" MONDO:0015445 rdfs:label "autosomal dominant coarctation of aorta" +UBERON:0001846 rdfs:label "internal ear" UBERON:0005337 rdfs:label "outflow tract of ventricle" HP:0000859 rdfs:label "Hyperaldosteronism" MONDO:0009025 rdfs:label "apparent mineralocorticoid excess" @@ -7772,8 +7781,8 @@ MONDO:0032610 rdfs:label "mitochondrial complex 1 deficiency, nuclear type 5" MONDO:0001369 rdfs:label "chronic laryngitis" GO:0016670 rdfs:label "oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor" UBERON:0008713 rdfs:label "pectoral girdle and thoracic body wall skeletal muscle" -MONDO:0019904 rdfs:label "ring chromosome 3" MONDO:0002315 rdfs:label "obsolete hereditary spastic paraplegia" +MONDO:0019904 rdfs:label "ring chromosome 3" MONDO:0010161 rdfs:label "tyrosinemia type I" GO:0051726 rdfs:label "regulation of cell cycle" MONDO:0023567 rdfs:label "Kozlowski Brown Hardwick syndrome" @@ -7838,8 +7847,8 @@ MONDO:0032707 rdfs:label "turnpenny-fry syndrome" MONDO:0018760 rdfs:label "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" MONDO:0014324 rdfs:label "pachyonychia congenita 3" UBERON:0015043 rdfs:label "manual digit 1 metacarpus endochondral element" -MONDO:0006651 rdfs:label "anterior uveitis" UBERON:0007242 rdfs:label "tunica intima of vein" +MONDO:0006651 rdfs:label "anterior uveitis" MONDO:0018072 rdfs:label "persistent truncus arteriosus" GO:0005981 rdfs:label "regulation of glycogen catabolic process" FOODON:00001854 rdfs:label "fish food product analog"@en @@ -7887,10 +7896,10 @@ GO:0033683 rdfs:label "nucleotide-excision repair, DNA incision" MONDO:0000301 rdfs:label "ophthalmomyiasis" MONDO:0018176 rdfs:label "obsolete polymicrogyria" MONDO:0008287 rdfs:label "Greig cephalopolysyndactyly syndrome" -MONDO:0023041 rdfs:label "ectodermal dysplasia Berlin type" MONDO:0004043 rdfs:label "ureter inverted papilloma" -MONDO:0018352 rdfs:label "squamous cell carcinoma of penis" +MONDO:0023041 rdfs:label "ectodermal dysplasia Berlin type" MONDO:0011636 rdfs:label "Diamond-Blackfan anemia 2" +MONDO:0018352 rdfs:label "squamous cell carcinoma of penis" MONDO:0006243 rdfs:label "hepatoid adenocarcinoma" UBERON:0005502 rdfs:label "rhombomere roof plate" MONDO:0008170 rdfs:label "ovarian cancer" @@ -7912,10 +7921,10 @@ UBERON:0001259 rdfs:label "mucosa of urinary bladder" MONDO:0016394 rdfs:label "sporadic infantile bilateral striatal necrosis" MONDO:0001742 rdfs:label "interval angle-closure glaucoma" MONDO:0015140 rdfs:label "early-onset autosomal dominant Alzheimer disease" -MONDO:0007645 rdfs:label "gastric sneezing" +MONDO:0007645 rdfs:label "obsolete gastric sneezing" MONDO:0010877 rdfs:label "Charcot-Marie-Tooth disease type 5" -UBERON:2002260 rdfs:label "premaxillary-maxillary joint" MONDO:0005484 rdfs:label "colorectal adenoma" +UBERON:2002260 rdfs:label "premaxillary-maxillary joint" MONDO:0011823 rdfs:label "developmental malformations-deafness-dystonia syndrome" UBERON:0003720 rdfs:label "anterior cranial fossa" ECTO:7000045 rdfs:label "exposure to stellar radiation" @@ -7963,7 +7972,7 @@ MONDO:0024501 rdfs:label "appendix neuroendocrine neoplasm" CHR:9606-chr11q2 rdfs:label "11q2 (Human)" MONDO:0020252 rdfs:label "essential strabismus" MONDO:0010016 rdfs:label "sclerosteosis 1" -MONDO:0013586 rdfs:label "Chitotriosidase deficiency" +MONDO:0013586 rdfs:label "obsolete Chitotriosidase deficiency" MONDO:0013239 rdfs:label "hereditary spastic paraplegia 41" MONDO:0008860 rdfs:label "beta-aminoisobutyric acid, urinary excretion of" CHEBI:60242 rdfs:label "monovalent inorganic cation" @@ -7997,9 +8006,9 @@ MONDO:0011825 rdfs:label "streptococcus, group A, severity of infection by" HP:0011226 rdfs:label "Aplasia/Hypoplasia of the eyelid" http://identifiers.org/hgnc/7566 rdfs:label "MYF6" http://identifiers.org/hgnc/1373 rdfs:label "CA2" +UBERON:0022350 rdfs:label "visceral serous membrane" MONDO:0044203 rdfs:label "foveal hypoplasia" MONDO:0005193 rdfs:label "prostate intraepithelial neoplasia" -UBERON:0022350 rdfs:label "visceral serous membrane" UBERON:0007619 rdfs:label "limiting membrane of retina" MONDO:0007162 rdfs:label "asymmetric short stature syndrome" http://identifiers.org/hgnc/30836 rdfs:label "POC1B" @@ -8088,8 +8097,8 @@ MONDO:0000471 rdfs:label "tricuspid valve disorder" MONDO:0019762 rdfs:label "laryngotracheoesophageal cleft type 2" MONDO:0002967 rdfs:label "dermatophytosis of scalp or beard" MONDO:0006066 rdfs:label "acinar prostate adenocarcinoma, foamy gland variant" -UBERON:0009959 rdfs:label "lumen of oropharynx" NCBITaxon:513045 rdfs:label "Dioctophyme renale" +UBERON:0009959 rdfs:label "lumen of oropharynx" MONDO:0018565 rdfs:label "congenital urachal anomaly" MONDO:0000553 rdfs:label "uterine corpus endometrial carcinoma" MONDO:0007012 rdfs:label "variant Creutzfeldt-Jakob disease" @@ -8132,12 +8141,12 @@ ENVO:01001054 rdfs:label "non-saline aerosol environment"@en ENVO:01000637 rdfs:label "outer space"@en MONDO:0019007 rdfs:label "vaginal atresia" MONDO:0021272 rdfs:label "inherited orthostatic hypotension" -MONDO:0012562 rdfs:label "holoprosencephaly 7" CL:0002119 rdfs:label "CD38-positive IgG-negative class switched memory B cell" +MONDO:0012562 rdfs:label "holoprosencephaly 7" MONDO:0032866 rdfs:label "cortical dysplasia, complex, with other brain malformations 10" CL:0000807 rdfs:label "DN3 thymocyte" MONDO:0100136 rdfs:label "obsolete Fanconia anemia complementation group M" -MONDO:0013799 rdfs:label "efavirenz, poor metabolism of" +MONDO:0013799 rdfs:label "obsolete efavirenz, poor metabolism of" UBERON:0007273 rdfs:label "pelvic appendage skeleton" UBERON:0001708 rdfs:label "jaw skeleton" http://identifiers.org/hgnc/25557 rdfs:label "PRMT7" @@ -8268,13 +8277,13 @@ MONDO:0002819 rdfs:label "obsolete Loeffler endocarditis" MONDO:0019858 rdfs:label "idiopathic congenital hypothyroidism" MONDO:0008305 rdfs:label "Currarino triad" MONDO:0014546 rdfs:label "myopathy due to calsequestrin and SERCA1 protein overload" -IAO:8000014 rdfs:label "generated ontology module"@en http://identifiers.org/hgnc/2877 rdfs:label "DIAPH2" +IAO:8000014 rdfs:label "generated ontology module"@en MONDO:0005139 rdfs:label "morbid obesity" GO:0004423 rdfs:label "iduronate-2-sulfatase activity" -UBERON:0003354 rdfs:label "epithelium of rectum" MONDO:0007108 rdfs:label "anal canal carcinoma" MONDO:0013331 rdfs:label "factor 5 and Factor VIII, combined deficiency of, 2" +UBERON:0003354 rdfs:label "epithelium of rectum" http://identifiers.org/hgnc/13345 rdfs:label "LPIN1" MONDO:0014937 rdfs:label "aniridia 2" MONDO:0008515 rdfs:label "syndactyly type 4" @@ -8304,8 +8313,8 @@ MONDO:0019060 rdfs:label "bone neoplasm" MONDO:0016716 rdfs:label "obsolete medulloepithelioma of the central nervous system" CHEBI:76967 rdfs:label "human xenobiotic metabolite" UBERON:0003839 rdfs:label "forelimb joint" -MONDO:0020379 rdfs:label "early-onset zonular cataract" MONDO:0013816 rdfs:label "obsolete palmoplantar keratoderma, mutilating, with periorificial keratotic plaques" +MONDO:0020379 rdfs:label "early-onset zonular cataract" MONDO:0012775 rdfs:label "thrombocytopenia 4" GO:0010560 rdfs:label "positive regulation of glycoprotein biosynthetic process" http://identifiers.org/hgnc/4551 rdfs:label "TECR" @@ -8319,8 +8328,8 @@ MONDO:0019188 rdfs:label "Rubinstein-Taybi syndrome" MONDO:0002539 rdfs:label "obsolete oligodendroglioma" CL:0000040 rdfs:label "monoblast" MONDO:0030992 rdfs:label "short stature, oligodontia, dysmorphic facies, and motor delay" -http://identifiers.org/hgnc/19237 rdfs:label "NANS" MONDO:0018574 rdfs:label "intellectual disability-expressive aphasia-facial dysmorphism syndrome" +http://identifiers.org/hgnc/19237 rdfs:label "NANS" MONDO:0017320 rdfs:label "phosphoenolpyruvate carboxykinase deficiency" MONDO:0002316 rdfs:label "motor peripheral neuropathy" MONDO:0019905 rdfs:label "ring chromosome 9" @@ -8348,17 +8357,17 @@ MONDO:0018761 rdfs:label "SMARCA4-deficient sarcoma of thorax" MONDO:0014325 rdfs:label "pachyonychia congenita 4" MONDO:0003757 rdfs:label "paraplegia" UBERON:0004348 rdfs:label "optic eminence" +NCBITaxon:1463975 rdfs:label "Cryptostroma corticale" MONDO:0007499 rdfs:label "ear folding" MONDO:0013262 rdfs:label "dilated cardiomyopathy 1S" -NCBITaxon:1463975 rdfs:label "Cryptostroma corticale" HP:0100765 rdfs:label "Abnormality of the tonsils" MONDO:0010876 rdfs:label "recessive aplasia cutis congenita of limbs" MONDO:0006129 rdfs:label "obsolete central nervous system lymphoma" MONDO:0100388 rdfs:label "acute myeloid leukemia, Monosomy 5" MONDO:0011822 rdfs:label "Bartter disease type 3" GO:0044106 rdfs:label "cellular amine metabolic process" -http://identifiers.org/hgnc/7208 rdfs:label "MPDZ" MONDO:0005328 rdfs:label "eye disorder" +http://identifiers.org/hgnc/7208 rdfs:label "MPDZ" MONDO:0017491 rdfs:label "tibial hemimelia, bilateral" http://identifiers.org/hgnc/14135 rdfs:label "PIGQ" MONDO:0024476 rdfs:label "epithelial neoplasm of rectum" @@ -8435,12 +8444,12 @@ GO:0007399 rdfs:label "nervous system development" MONDO:0022921 rdfs:label "obsolete short stature-microcephaly-heart defect syndrome" MONDO:0018177 rdfs:label "glioblastoma" MONDO:0008288 rdfs:label "popliteal cyst" -MONDO:0018353 rdfs:label "refractory celiac disease" http://identifiers.org/hgnc/30740 rdfs:label "TARS2" +MONDO:0011637 rdfs:label "Sener syndrome" MONDO:0004044 rdfs:label "ureter urothelial papilloma" ECTO:1000000 rdfs:label "exposure to environmental condition" GO:2000147 rdfs:label "positive regulation of cell motility" -MONDO:0011637 rdfs:label "Sener syndrome" +MONDO:0018353 rdfs:label "refractory celiac disease" MONDO:0017797 rdfs:label "obsolete rare odontologic tumor" MONDO:0006244 rdfs:label "HER2 positive breast carcinoma" MONDO:0002704 rdfs:label "obsolete appendix adenocarcinoma" @@ -8488,13 +8497,13 @@ MONDO:0004473 rdfs:label "epiglottis cancer" MONDO:0002139 rdfs:label "sigmoid disease" http://identifiers.org/hgnc/8931 rdfs:label "PHKG2" HP:0007369 rdfs:label "Atrophy/Degeneration affecting the cerebrum" -CL:1000495 rdfs:label "small intestine goblet cell" MONDO:0024337 rdfs:label "urothelial neoplasm" +CL:1000495 rdfs:label "small intestine goblet cell" MONDO:0003276 rdfs:label "middle ear disorder" GO:0008168 rdfs:label "methyltransferase activity" UBERON:0035838 rdfs:label "esophagogastric junction mucosa" -NCIT:C12922 rdfs:label "Neoplastic Cell" MONDO:0011458 rdfs:label "Leber congenital amaurosis 4" +NCIT:C12922 rdfs:label "Neoplastic Cell" HP:0001965 rdfs:label "Abnormal scalp morphology" MONDO:0000710 rdfs:label "gastroduodenal Crohn disease" MONDO:0012404 rdfs:label "systemic lupus erythematosus, susceptibility to, 8" @@ -8519,11 +8528,11 @@ http://identifiers.org/hgnc/12605 rdfs:label "CLRN1" GO:0010677 rdfs:label "negative regulation of cellular carbohydrate metabolic process" MONDO:0009278 rdfs:label "obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" MONDO:0022891 rdfs:label "craniosynostosis Maroteaux Fonfria type" -MONDO:0018787 rdfs:label "genetic cerebral small vessel disease" MONDO:0005381 rdfs:label "bone disorder" MONDO:0017229 rdfs:label "distal monosomy 12p" MONDO:0016601 rdfs:label "adult-onset citrullinemia type I" MONDO:0012627 rdfs:label "epilepsy, idiopathic generalized, susceptibility to, 13" +MONDO:0018787 rdfs:label "genetic cerebral small vessel disease" MONDO:0007234 rdfs:label "branchial myoclonus with spastic paraparesis and cerebellar ataxia" MONDO:0010375 rdfs:label "developmental and epileptic encephalopathy, 8" MONDO:0014191 rdfs:label "catecholaminergic polymorphic ventricular tachycardia 5" @@ -8554,8 +8563,8 @@ MONDO:0000302 rdfs:label "basidiobolomycosis" MONDO:0001860 rdfs:label "folic acid deficiency anemia" NCBITaxon:213849 rdfs:label "Campylobacterales" http://identifiers.org/hgnc/3811 rdfs:label "FOXG1" -UBERON:0011773 rdfs:label "upper jaw opening" ENVO:02500027 rdfs:label "anthropogenic environmental process" +UBERON:0011773 rdfs:label "upper jaw opening" UBERON:0010848 rdfs:label "radius-ulna cartilage element" MONDO:0008581 rdfs:label "malposition of teeth with or without hypodontia/oligodontia" UBERON:0004765 rdfs:label "skeletal element" @@ -8586,8 +8595,8 @@ MONDO:0020032 rdfs:label "obsolete rare urinary tract tumor" UBERON:0008886 rdfs:label "pulmonary vascular system" UBERON:0004952 rdfs:label "submucosa of bronchiole" NCBITaxon:229219 rdfs:label "Blastomyces" -MONDO:0014577 rdfs:label "short-rib thoracic dysplasia 13 with or without polydactyly" MONDO:8000006 rdfs:label "WHIM syndrome 1" +MONDO:0014577 rdfs:label "short-rib thoracic dysplasia 13 with or without polydactyly" GO:0090316 rdfs:label "positive regulation of intracellular protein transport" MONDO:0001097 rdfs:label "obsolete juvenile glaucoma" MONDO:0032865 rdfs:label "pulmonary fibrosis and/or bone marrow failure, telomere-related, 5" @@ -8603,9 +8612,9 @@ MONDO:0000125 rdfs:label "obsolete fundus dystrophy, pseudoinflammatory" MONDO:0001683 rdfs:label "pancreatic mucinous ductal ectasia" ENVO:01000998 rdfs:label "environmental system determined by a material"@en MONDO:0002325 rdfs:label "tooth erosion, non-bacterial" +MONDO:0028226 rdfs:label "autosomal recessive severe congenital neutropenia" MONDO:0022323 rdfs:label "2-hydroxyethyl methacrylate sensitization" MONDO:0006067 rdfs:label "acinar prostate mucinous adenocarcinoma" -MONDO:0028226 rdfs:label "autosomal recessive severe congenital neutropenia" MONDO:0017634 rdfs:label "non-infectious anterior uveitis" MONDO:0030986 rdfs:label "blistering, acantholytic, of oral and laryngeal mucosa" MONDO:0012406 rdfs:label "hyperparathyroidism 3" @@ -8682,8 +8691,8 @@ GO:1904081 rdfs:label "positive regulation of transcription from RNA polymerase GO:0003842 rdfs:label "1-pyrroline-5-carboxylate dehydrogenase activity" http://identifiers.org/hgnc/4135 rdfs:label "GALT" MONDO:0012398 rdfs:label "retinal cone dystrophy 3A" -MONDO:0019867 rdfs:label "mosaic trisomy 8" CHR:9606-chr8p23.1 rdfs:label "8p23.1 (Human)" +MONDO:0019867 rdfs:label "mosaic trisomy 8" CHEBI:64708 rdfs:label "one-carbon compound" GO:0012506 rdfs:label "vesicle membrane" PATO:0001171 rdfs:label "elastic" @@ -8863,10 +8872,10 @@ ENVO:03000033 rdfs:label "marine sediment"@en http://identifiers.org/hgnc/25705 rdfs:label "KCTD17" MONDO:0016888 rdfs:label "partial deletion of the short arm of chromosome 6" MONDO:0017134 rdfs:label "odonto-onycho dysplasia-alopecia syndrome" +FOODON:00001145 rdfs:label "microbial food product"@en MONDO:0016717 rdfs:label "choroid plexus neoplasm" MONDO:0006928 rdfs:label "proliferative vitreoretinopathy" GO:0009070 rdfs:label "serine family amino acid biosynthetic process" -FOODON:00001145 rdfs:label "microbial food product"@en http://identifiers.org/hgnc/12660 rdfs:label "VAX1" MONDO:0013817 rdfs:label "preeclampsia/eclampsia 5" GO:0055103 rdfs:label "ligase regulator activity" @@ -8904,13 +8913,13 @@ UBERON:0006347 rdfs:label "communicating artery" MONDO:0011786 rdfs:label "allergic rhinitis" NCBITaxon:43755 rdfs:label "Oestroidea" MONDO:0016090 rdfs:label "late-infantile/juvenile Krabbe disease" +NCBITaxon:36087 rdfs:label "Trichuris trichiura" MONDO:0020089 rdfs:label "acquired lipodystrophy" GO:1901566 rdfs:label "organonitrogen compound biosynthetic process" HP:0010936 rdfs:label "Abnormality of the lower urinary tract" MONDO:0015363 rdfs:label "autosomal recessive distal hereditary motor neuropathy" -NCBITaxon:36087 rdfs:label "Trichuris trichiura" -MONDO:0008697 rdfs:label "obsolete acetophenetidin sensitivity" MONDO:0016005 rdfs:label "indomethacin embryofetopathy" +MONDO:0008697 rdfs:label "obsolete acetophenetidin sensitivity" http://identifiers.org/hgnc/10585 rdfs:label "SCN1A" MONDO:0009771 rdfs:label "oculotrichodysplasia" NCBITaxon:29189 rdfs:label "Ammonia" @@ -8922,8 +8931,8 @@ MONDO:0005390 rdfs:label "obsolete cardiac arrhythmia" MONDO:0008119 rdfs:label "spinocerebellar ataxia type 1" UBERON:0005024 rdfs:label "mucosa of soft palate" GO:0060453 rdfs:label "regulation of gastric acid secretion" -UBERON:0013757 rdfs:label "capillary blood" GO:0080135 rdfs:label "regulation of cellular response to stress" +UBERON:0013757 rdfs:label "capillary blood" GO:0090278 rdfs:label "negative regulation of peptide hormone secretion" NCBITaxon:49202 rdfs:label "Dermacentor marginatus" MONDO:0016309 rdfs:label "Niemann-Pick disease type C, juvenile neurologic onset" @@ -8986,8 +8995,8 @@ GO:0071742 rdfs:label "IgE immunoglobulin complex" MONDO:0020662 rdfs:label "borderline ovarian serous tumor" MONDO:0300000 rdfs:label "SSR3-CDG" MONDO:0007937 rdfs:label "renal hypomagnesemia 2" -MONDO:0026724 rdfs:label "Paganini-Miozzo syndrome" GO:1901019 rdfs:label "regulation of calcium ion transmembrane transporter activity" +MONDO:0026724 rdfs:label "Paganini-Miozzo syndrome" MONDO:0005663 rdfs:label "Barre-Lieou syndrome" UBERON:0010164 rdfs:label "collection of hairs" UBERON:0011110 rdfs:label "humeroulnar joint" @@ -8996,9 +9005,9 @@ MONDO:0012776 rdfs:label "celiac disease, susceptibility to, 7" GO:0048593 rdfs:label "camera-type eye morphogenesis" MONDO:0019039 rdfs:label "obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect" UBERON:0006536 rdfs:label "male reproductive gland secretion" +http://identifiers.org/hgnc/6081 rdfs:label "INS" MONDO:0016396 rdfs:label "pontocerebellar hypoplasia type 1" MONDO:0015142 rdfs:label "obsolete ataxia syndrome" -http://identifiers.org/hgnc/6081 rdfs:label "INS" MONDO:0010879 rdfs:label "CODAS syndrome" GO:1903530 rdfs:label "regulation of secretion by cell" CL:1000409 rdfs:label "myocyte of sinoatrial node" @@ -9013,7 +9022,7 @@ UBERON:0008715 rdfs:label "muscle tissue of prostate" MONDO:0003923 rdfs:label "ethmoid sinus Schneiderian papilloma" MONDO:0009109 rdfs:label "lysinuric protein intolerance" MONDO:0014022 rdfs:label "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10" -MONDO:0010994 rdfs:label "micromelic dwarfism, Fryns type" +MONDO:0010994 rdfs:label "obsolete micromelic dwarfism, Fryns type" MONDO:0017798 rdfs:label "Spigelian hernia-cryptorchidism syndrome" MONDO:0002705 rdfs:label "breast mucinous cystadenocarcinoma" MONDO:0016583 rdfs:label "familial intestinal malrotation-facial anomalies syndrome" @@ -9101,12 +9110,12 @@ GO:1903532 rdfs:label "positive regulation of secretion by cell" MONDO:0016175 rdfs:label "cutis laxa" CHEBI:139589 rdfs:label "retinoid anion" MONDO:0000526 rdfs:label "obsolete appendix carcinoid tumor" -UBERON:0002110 rdfs:label "gall bladder" http://identifiers.org/hgnc/5133 rdfs:label "HOXD10" MONDO:0019375 rdfs:label "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" FOODON:00002471 rdfs:label "prepared seafood product"@en MONDO:0023288 rdfs:label "green sandford davison syndrome" MONDO:0003925 rdfs:label "ethmoid sinus inverted papilloma" +UBERON:0002110 rdfs:label "gall bladder" MONDO:0019551 rdfs:label "hereditary motor and sensory neuropathy type 6" MONDO:0019204 rdfs:label "respiratory bronchiolitis-interstitial lung disease syndrome" MONDO:0000303 rdfs:label "conidiobolomycosis" @@ -9130,9 +9139,9 @@ MONDO:0000713 rdfs:label "obsolete Balo concentric sclerosis" MONDO:0008957 rdfs:label "cervical vertebrae, agenesis of" NCBITaxon:10292 rdfs:label "Herpesviridae" MONDO:0001744 rdfs:label "angle-closure glaucoma" +UBERON:0003893 rdfs:label "capsule" MONDO:0007647 rdfs:label "gastric volvulus, intrathoracic" MONDO:0013870 rdfs:label "TMEM165-CDG" -UBERON:0003893 rdfs:label "capsule" MONDO:0005486 rdfs:label "tooth agenesis" UBERON:0003722 rdfs:label "middle cranial fossa" MONDO:0000282 rdfs:label "Whitewater Arroyo hemorrhagic fever" @@ -9170,7 +9179,7 @@ GO:0043209 rdfs:label "myelin sheath" MONDO:0021451 rdfs:label "benign neoplasm of brain" GO:0010795 rdfs:label "regulation of ubiquinone biosynthetic process" NCBITaxon:171637 rdfs:label "Amygdaloideae" -MONDO:0014053 rdfs:label "stomatin-like protein-2, hyperphosphorylation of" +MONDO:0014053 rdfs:label "obsolete stomatin-like protein-2, hyperphosphorylation of" MONDO:0010541 rdfs:label "X-linked calvarial hyperostosis" UBERON:8410041 rdfs:label "venule of lymph node" MONDO:0024503 rdfs:label "digestive system neuroendocrine neoplasm" @@ -9186,7 +9195,7 @@ MONDO:0017822 rdfs:label "mixed functioning pituitary adenoma" MONDO:0004943 rdfs:label "orbit sarcoma" MONDO:0000694 rdfs:label "seasonal affective disorder" GO:0099081 rdfs:label "supramolecular polymer" -MONDO:0008432 rdfs:label "ketone compounds, ability to smell" +MONDO:0008432 rdfs:label "obsolete ketone compounds, ability to smell" MONDO:0012095 rdfs:label "intellectual disability-brachydactyly-Pierre Robin syndrome" GO:0010678 rdfs:label "negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-templated" MONDO:0022892 rdfs:label "craniosynostosis alopecia brain defect" @@ -9241,16 +9250,16 @@ UBERON:0016478 rdfs:label "liver stroma" http://identifiers.org/hgnc/4136 rdfs:label "GAMT" MONDO:0012399 rdfs:label "complex cortical dysplasia with other brain malformations 7" MONDO:0019868 rdfs:label "mosaic trisomy 10" -CHEBI:64709 rdfs:label "organic acid" MONDO:0003466 rdfs:label "spindle cell synovial sarcoma" +CHEBI:64709 rdfs:label "organic acid" MONDO:0019070 rdfs:label "obsolete liposarcoma" MONDO:0003221 rdfs:label "obsolete sclerosing hemangioma" UBERON:0004296 rdfs:label "respiratory system lymphatic vessel smooth muscle" MONDO:0013731 rdfs:label "MEGF10-Related Myopathy" UBERON:0008887 rdfs:label "rectal venous plexus" GO:1905555 rdfs:label "positive regulation of blood vessel branching" -MONDO:0015456 rdfs:label "obsolete whooping cough" MONDO:0020117 rdfs:label "alpha granule disease" +MONDO:0015456 rdfs:label "obsolete whooping cough" MONDO:0010228 rdfs:label "hearing loss, X-linked 3" CL:0000011 rdfs:label "migratory trunk neural crest cell" MONDO:0011691 rdfs:label "amyotrophic lateral sclerosis type 3" @@ -9329,11 +9338,11 @@ GO:0008607 rdfs:label "phosphorylase kinase regulator activity" UBERON:0003041 rdfs:label "trigeminal nerve fibers" MONDO:0004513 rdfs:label "adult pleomorphic rhabdomyosarcoma" MONDO:0020285 rdfs:label "transposition of the great arteries and conotruncal cardiac anomaly" -MONDO:0014079 rdfs:label "restless legs syndrome, susceptibility to, 8" MONDO:0010049 rdfs:label "spastic paraplegia-glaucoma-intellectual disability syndrome" MONDO:0011123 rdfs:label "type 1 diabetes mellitus 15" -MONDO:0024876 rdfs:label "tendon sheath disorder" +MONDO:0014079 rdfs:label "restless legs syndrome, susceptibility to, 8" MONDO:0012681 rdfs:label "febrile seizures, familial, 7" +MONDO:0024876 rdfs:label "tendon sheath disorder" MONDO:0003316 rdfs:label "nonanaplastic kidney Wilms tumor" MONDO:0013966 rdfs:label "catecholaminergic polymorphic ventricular tachycardia 4" MONDO:0001042 rdfs:label "patellar tendinitis" @@ -9475,8 +9484,8 @@ UBERON:0003521 rdfs:label "pes blood vessel" MONDO:0013146 rdfs:label "Brugada syndrome 7" MONDO:0003026 rdfs:label "gallbladder angiosarcoma" MONDO:0018942 rdfs:label "macrophagic myofasciitis" -http://identifiers.org/hgnc/9255 rdfs:label "PPIB" GO:0044297 rdfs:label "cell body" +http://identifiers.org/hgnc/9255 rdfs:label "PPIB" http://identifiers.org/hgnc/29110 rdfs:label "KIAA0753" CHEBI:35346 rdfs:label "11beta-hydroxy steroid" http://identifiers.org/hgnc/11190 rdfs:label "SOX10" @@ -9487,17 +9496,17 @@ MONDO:0002288 rdfs:label "obsolete ovarian cancer" http://identifiers.org/hgnc/23719 rdfs:label "PGAP3" UBERON:0004266 rdfs:label "upper leg connective tissue" MONDO:0032730 rdfs:label "leukodystrophy, hypomyelinating, 18" -MONDO:0007938 rdfs:label "46,XY sex reversal 4" ENVO:21001216 rdfs:label "ultraviolet radiation" +MONDO:0007938 rdfs:label "46,XY sex reversal 4" UBERON:0005212 rdfs:label "Leydig cell region of testis" MONDO:0005664 rdfs:label "bartonellosis" MONDO:0014548 rdfs:label "long QT syndrome 14" UBERON:0010165 rdfs:label "collection of hair on face" -GO:0034308 rdfs:label "primary alcohol metabolic process" IAO:8000016 rdfs:label "taxonomic bridge ontology module"@en +GO:0034308 rdfs:label "primary alcohol metabolic process" UBERON:0011111 rdfs:label "humeroradial joint" -HP:0001871 rdfs:label "Abnormality of blood and blood-forming tissues" MONDO:0013333 rdfs:label "odontoid hypoplasia" +HP:0001871 rdfs:label "Abnormality of blood and blood-forming tissues" ENVO:01001087 rdfs:label "formation of a liquid aerosol in an atmosphere"@en UBERON:0034720 rdfs:label "head taste bud" MONDO:0030996 rdfs:label "bleeding disorder, platelet-type, 24" @@ -9671,8 +9680,8 @@ UBERON:0018674 rdfs:label "heart vasculature" MONDO:0006091 rdfs:label "appendix neuroendocrine tumor G1" MONDO:0004475 rdfs:label "thymus clear cell carcinoma" UBERON:0034972 rdfs:label "jugular body" -CL:1000497 rdfs:label "kidney cell" GO:0048468 rdfs:label "cell development" +CL:1000497 rdfs:label "kidney cell" MONDO:0043101 rdfs:label "hypothalamic dysfunction" UBERON:0035483 rdfs:label "left suprarenal vein" HP:0001967 rdfs:label "Diffuse mesangial sclerosis" @@ -9681,19 +9690,19 @@ MONDO:0002477 rdfs:label "prostate neuroendocrine neoplasm" MONDO:0008362 rdfs:label "ragweed sensitivity" http://identifiers.org/hgnc/27424 rdfs:label "RBM20" GO:0009112 rdfs:label "nucleobase metabolic process" +NCBITaxon:6308 rdfs:label "Strongylida" CHEBI:16914 rdfs:label "salicylic acid" MONDO:0009445 rdfs:label "ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome" MONDO:0043009 rdfs:label "genetic lethal multiple congenital anomalies/dysmorphic syndrome" -GO:0051090 rdfs:label "regulation of DNA-binding transcription factor activity" MONDO:0021452 rdfs:label "benign neoplasm of cornea" +GO:0051090 rdfs:label "regulation of DNA-binding transcription factor activity" MONDO:0005196 rdfs:label "obsolete teratozoospermia" +HP:0010280 rdfs:label "Stomatitis" CL:0002620 rdfs:label "skin fibroblast" http://identifiers.org/hgnc/470 rdfs:label "AMPD3" -NCBITaxon:6308 rdfs:label "Strongylida" -http://identifiers.org/hgnc/30839 rdfs:label "KRT25" MONDO:0014054 rdfs:label "lymphoproliferative syndrome 2" +http://identifiers.org/hgnc/30839 rdfs:label "KRT25" MONDO:0010542 rdfs:label "dilated cardiomyopathy 3B" -HP:0010280 rdfs:label "Stomatitis" MONDO:0005853 rdfs:label "malignant mixed neoplasm" MONDO:0002735 rdfs:label "anal canal adenocarcinoma" http://identifiers.org/hgnc/25737 rdfs:label "NHEJ1" @@ -9739,7 +9748,7 @@ MONDO:0009165 rdfs:label "Aicardi-Goutieres syndrome 1" UBERON:0011139 rdfs:label "synovial limb joint" UBERON:0013765 rdfs:label "digestive system element" CL:1001581 rdfs:label "lateral ventricle glial cell" -MONDO:0011692 rdfs:label "basal ganglia calcification, idiopathic, 2" +MONDO:0011692 rdfs:label "obsolete basal ganglia calcification, idiopathic, 2" http://identifiers.org/hgnc/4208 rdfs:label "GCSH" MONDO:0007602 rdfs:label "obsolete favism, susceptibility to" MONDO:0014744 rdfs:label "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" @@ -9747,8 +9756,8 @@ GO:1904115 rdfs:label "axon cytoplasm" UBERON:0006056 rdfs:label "posterior surface of head" GO:0002507 rdfs:label "tolerance induction" UBERON:0006232 rdfs:label "facio-acoustic VII-VIII preganglion complex" -HP:0000988 rdfs:label "Skin rash" UBERON:2002068 rdfs:label "lower hypural set" +HP:0000988 rdfs:label "Skin rash" MONDO:0004664 rdfs:label "helminthiasis" MONDO:0016859 rdfs:label "blepharophimosis-epicanthus inversus-ptosis due to copy number variations" GO:2000767 rdfs:label "positive regulation of cytoplasmic translation" @@ -9792,10 +9801,10 @@ MONDO:0025701 rdfs:label "leukodystrophy, hypomyelinating, 22" MONDO:0030105 rdfs:label "galactosemia 4" MONDO:0012818 rdfs:label "maturity-onset diabetes of the young type 9" MONDO:0016061 rdfs:label "immunodeficiency with factor H anomaly" +UBERON:8410042 rdfs:label "arteriole of lymph node" PATO:0000402 rdfs:label "branched" MONDO:0019578 rdfs:label "nodular lichen myxedematosus" MONDO:0015644 rdfs:label "audiogenic seizures" -UBERON:8410042 rdfs:label "arteriole of lymph node" NCBITaxon:7162 rdfs:label "Ochlerotatus triseriatus" MONDO:0008668 rdfs:label "von Willebrand disease 1" MONDO:0002737 rdfs:label "acute sanguinous otitis media" @@ -9953,8 +9962,8 @@ MONDO:0002790 rdfs:label "seminal vesicle tumor" MONDO:0004749 rdfs:label "myocardium cancer" MONDO:0018084 rdfs:label "Uhl anomaly" HP:0002244 rdfs:label "Abnormality of the small intestine" -MONDO:0007174 rdfs:label "Lown-Ganong-Levine syndrome" UBERON:0005410 rdfs:label "cartilaginous otic capsule" +MONDO:0007174 rdfs:label "Lown-Ganong-Levine syndrome" GO:0016209 rdfs:label "antioxidant activity" MONDO:0008238 rdfs:label "phosphatase, acid, of tissues" HP:0001702 rdfs:label "Abnormal tricuspid valve morphology" @@ -9987,8 +9996,8 @@ MONDO:0009679 rdfs:label "arthrogryposis due to muscular dystrophy" GO:0060455 rdfs:label "negative regulation of gastric acid secretion" MONDO:0010386 rdfs:label "immunodeficiency 33" NCBITaxon:133423 rdfs:label "Batillus" -MONDO:0044746 rdfs:label "zoonotic bacterial infection" http://identifiers.org/hgnc/3681 rdfs:label "FGF3" +MONDO:0044746 rdfs:label "zoonotic bacterial infection" MONDO:0020451 rdfs:label "congenital stenosis of the inferior vena cava" CHEBI:37246 rdfs:label "elemental sodium" MONDO:0044347 rdfs:label "erythrocyte disorder" @@ -10044,7 +10053,7 @@ MONDO:0012778 rdfs:label "celiac disease, susceptibility to, 9" MONDO:0020548 rdfs:label "ocular pemphigoid" CHR:9606-chr2q23 rdfs:label "2q23 (Human)" MONDO:0015770 rdfs:label "congenital hypogonadotropic hypogonadism" -http://identifiers.org/hgnc/11577 rdfs:label "TAZ" +http://identifiers.org/hgnc/11577 rdfs:label "TAFAZZIN" MONDO:0015449 rdfs:label "criss-cross heart" GO:1902093 rdfs:label "positive regulation of flagellated sperm motility" MONDO:0700010 rdfs:label "chromosome 3 disorder" @@ -10067,8 +10076,8 @@ UBERON:0000042 rdfs:label "serous membrane" CL:0000499 rdfs:label "stromal cell" MONDO:0017136 rdfs:label "omodysplasia" GO:0060047 rdfs:label "heart contraction" -GO:1904480 rdfs:label "positive regulation of intestinal absorption" MONDO:0013819 rdfs:label "intellectual disability, autosomal dominant 14" +GO:1904480 rdfs:label "positive regulation of intestinal absorption" HP:0030674 rdfs:label "Antenatal onset" MONDO:0014180 rdfs:label "epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency" http://identifiers.org/hgnc/4944 rdfs:label "HLA-DQB1" @@ -10081,8 +10090,8 @@ MONDO:0019774 rdfs:label "Holmes-Gang syndrome" CHEBI:18367 rdfs:label "phosphate(3-)" MONDO:0017494 rdfs:label "obsolete congenital absence of upper arm and forearm with hand present, unilateral" GO:0045911 rdfs:label "positive regulation of DNA recombination" -MONDO:0016124 rdfs:label "obsolete drug and/or toxic myopathy" UBERON:0013510 rdfs:label "lumbar vertebra pre-cartilage condensation" +MONDO:0016124 rdfs:label "obsolete drug and/or toxic myopathy" MONDO:0018577 rdfs:label "pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa" NCBITaxon:1300 rdfs:label "Streptococcaceae" MONDO:0006468 rdfs:label "thyroid gland undifferentiated (anaplastic) carcinoma" @@ -10197,9 +10206,9 @@ UBERON:0000113 rdfs:label "post-juvenile adult stage" http://identifiers.org/hgnc/18708 rdfs:label "GRIP1" CL:0002027 rdfs:label "CD9-positive, CD41-positive megakaryocyte cell" MONDO:0012470 rdfs:label "prostate cancer, hereditary, 7" -MONDO:0032796 rdfs:label "hyper-IgE recurrent infection syndrome 4, autosomal recessive" MONDO:0002350 rdfs:label "familial nephrotic syndrome" GO:0030522 rdfs:label "intracellular receptor signaling pathway" +MONDO:0032796 rdfs:label "hyper-IgE recurrent infection syndrome 4, autosomal recessive" MONDO:0024622 rdfs:label "thyroid gland adenocarcinoma" UBERON:0011138 rdfs:label "postcranial axial skeletal system" UBERON:0004989 rdfs:label "mucosa of appendix" @@ -10214,8 +10223,8 @@ GO:0006859 rdfs:label "extracellular carbohydrate transport" MONDO:0017637 rdfs:label "obsolete rare parkinsonian syndrome due to intoxication" GO:0070295 rdfs:label "renal water absorption" http://identifiers.org/hgnc/5996 rdfs:label "IL1RAPL1" -http://identifiers.org/hgnc/11779 rdfs:label "TGM3" NCBITaxon:1280412 rdfs:label "Conoidasida" +http://identifiers.org/hgnc/11779 rdfs:label "TGM3" MONDO:0021191 rdfs:label "malignant ependymoma" MONDO:0002478 rdfs:label "mixed germ cell-sex cord-stromal tumor" CL:0000069 rdfs:label "branched duct epithelial cell" @@ -10234,8 +10243,8 @@ NCBITaxon:33833 rdfs:label "Vestibuliferida" MONDO:0002549 rdfs:label "schwannoma of twelfth cranial nerve" MONDO:0022894 rdfs:label "craniosynostosis autosomal dominant" MONDO:0016604 rdfs:label "dysraphism-cleft lip/palate-limb reduction defects syndrome" -MONDO:0013704 rdfs:label "intellectual disability, autosomal recessive 30" CHEBI:24870 rdfs:label "ion" +MONDO:0013704 rdfs:label "intellectual disability, autosomal recessive 30" MONDO:0007237 rdfs:label "familial juvenile hypertrophy of the breast" MONDO:0018804 rdfs:label "MYO5B-related progressive familial intrahepatic cholestasis" HP:0031899 rdfs:label "Abnormal coagulation factor V activity" @@ -10286,8 +10295,8 @@ MONDO:0011710 rdfs:label "specific language impairment 1" GO:1901607 rdfs:label "alpha-amino acid biosynthetic process" NCBITaxon:1593277 rdfs:label "Onygenales incertae sedis" MONDO:0018627 rdfs:label "obsolete ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor" -http://identifiers.org/hgnc/4138 rdfs:label "GANAB" UBERON:0003726 rdfs:label "thoracic nerve" +http://identifiers.org/hgnc/4138 rdfs:label "GANAB" MONDO:0032740 rdfs:label "hearing loss, autosomal recessive 100" MONDO:0003468 rdfs:label "biphasic synovial sarcoma" MONDO:0037252 rdfs:label "thecoma" @@ -10356,11 +10365,11 @@ CL:0000746 rdfs:label "cardiac muscle cell" MONDO:0015374 rdfs:label "primary central nervous system vasculitis" MONDO:0014465 rdfs:label "primary ciliary dyskinesia 30" MONDO:0016320 rdfs:label "obsolete rare hereditary thrombophilia" +UBERON:0004664 rdfs:label "aorta tunica adventitia" GO:2000035 rdfs:label "regulation of stem cell division" CHEBI:22691 rdfs:label "barbiturate anion" -UBERON:0004664 rdfs:label "aorta tunica adventitia" -MONDO:0005058 rdfs:label "leiomyosarcoma" MONDO:0011281 rdfs:label "congenital myasthenic syndrome 5" +MONDO:0005058 rdfs:label "leiomyosarcoma" MONDO:0001161 rdfs:label "schizoid personality disorder" GO:1901859 rdfs:label "negative regulation of mitochondrial DNA metabolic process" MONDO:0002901 rdfs:label "blood group incompatibility" @@ -10372,8 +10381,8 @@ http://identifiers.org/hgnc/8778 rdfs:label "PDE3A" MONDO:0016448 rdfs:label "pseudoxanthoma elasticum-like papillary dermal elastolysis" HP:0010995 rdfs:label "Abnormal circulating dicarboxylic acid concentration" MONDO:0020287 rdfs:label "pulmonary artery or pulmonary branch anomaly" -MONDO:0011125 rdfs:label "trichothiodystrophy 1, photosensitive" UBERON:0001148 rdfs:label "median nerve" +MONDO:0011125 rdfs:label "trichothiodystrophy 1, photosensitive" MONDO:0024878 rdfs:label "secondary carcinoma" MONDO:0012683 rdfs:label "pontocerebellar hypoplasia type 6" CHEBI:61469 rdfs:label "polyanionic polymer" @@ -10423,7 +10432,7 @@ MONDO:0004665 rdfs:label "nodular sclerosis classical Hodgkin lymphoma" http://identifiers.org/hgnc/2217 rdfs:label "COL9A1" MONDO:0013170 rdfs:label "cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies" MONDO:0020673 rdfs:label "arterial occlusion" -MONDO:0011554 rdfs:label "deafness, nonsyndromic, modifier 1" +MONDO:0011554 rdfs:label "obsolete deafness, nonsyndromic, modifier 1" HP:0002463 rdfs:label "Language impairment" GO:0098802 rdfs:label "plasma membrane signaling receptor complex" NCBITaxon:117570 rdfs:label "Teleostomi" @@ -10438,7 +10447,7 @@ MONDO:0013733 rdfs:label "accelerated tumor formation, susceptibility to" MONDO:0021316 rdfs:label "malignant tumor of minor salivary gland" http://identifiers.org/hgnc/11547 rdfs:label "TAF15" http://identifiers.org/hgnc/8896 rdfs:label "PGK1" -MONDO:0015153 rdfs:label "autosomal monosomy" +MONDO:0015153 rdfs:label "obsolete autosomal monosomy" GO:0009250 rdfs:label "glucan biosynthetic process" GO:0045910 rdfs:label "negative regulation of DNA recombination" MONDO:0012275 rdfs:label "fetal valproate syndrome" @@ -10459,8 +10468,8 @@ http://identifiers.org/hgnc/7494 rdfs:label "MT-TP" CL:0002036 rdfs:label "Slamf1-positive multipotent progenitor cell" UBERON:0007151 rdfs:label "mitral valve leaflet" MONDO:0056795 rdfs:label "X-linked spermatogenic failure 1" -MONDO:0012462 rdfs:label "autosomal recessive frontotemporal pachygyria" UBERON:0002485 rdfs:label "prostate duct" +MONDO:0012462 rdfs:label "autosomal recessive frontotemporal pachygyria" MONDO:0045023 rdfs:label "acquired adrenogenital syndrome" MONDO:0008990 rdfs:label "cleft larynx, posterior" MONDO:0019931 rdfs:label "Leydig cell hypoplasia due to partial LH resistance" @@ -10526,8 +10535,8 @@ MONDO:0004515 rdfs:label "obsolete olfactory neural tumor" http://identifiers.org/hgnc/10588 rdfs:label "SCN2A" UBERON:0009603 rdfs:label "right lung associated mesenchyme" SO:0002072 rdfs:label "sequence_comparison" -NCBITaxon:122378 rdfs:label "Penaeus schmitti" CHR:9606-chr3q13.31 rdfs:label "3q13.31 (Human)" +NCBITaxon:122378 rdfs:label "Penaeus schmitti" http://identifiers.org/hgnc/2219 rdfs:label "COL9A3" GO:0007147 rdfs:label "female meiosis II" GO:2000066 rdfs:label "positive regulation of cortisol biosynthetic process" @@ -10543,9 +10552,9 @@ MONDO:0044747 rdfs:label "human anaplasmosis" MONDO:0008593 rdfs:label "trichomegaly" MONDO:0013148 rdfs:label "Brugada syndrome 8" MONDO:0003654 rdfs:label "childhood parosteal osteosarcoma" +MONDO:0007396 rdfs:label "dysostosis, Stanescu type" MONDO:0004173 rdfs:label "adenocarcinoma of skene gland origin" CL:1000702 rdfs:label "kidney pelvis smooth muscle cell" -MONDO:0007396 rdfs:label "dysostosis, Stanescu type" MONDO:0003830 rdfs:label "type 1 papillary adenoma of the kidney" MONDO:0013031 rdfs:label "chromosome 5Q14.3 deletion syndrome, distal" NCBITaxon:28844 rdfs:label "Diphyllobothrium" @@ -10560,15 +10569,15 @@ http://identifiers.org/hgnc/5144 rdfs:label "HPCA" UBERON:0012356 rdfs:label "pedal acropodium region" MONDO:0019690 rdfs:label "filamin-related bone disorder" http://identifiers.org/hgnc/10985 rdfs:label "SLC25A15" +UBERON:0003358 rdfs:label "epithelium of soft palate" MONDO:0024245 rdfs:label "ductal eccrine adenocarcinoma" MONDO:0003184 rdfs:label "trachea carcinoma" +MONDO:0054813 rdfs:label "Ehlers-Danlos syndrome, classic-like, 2" IAO:8000018 rdfs:label "obo basic subset ontology module"@en MONDO:0012136 rdfs:label "carnitine palmitoyl transferase II deficiency, neonatal form" -UBERON:0003358 rdfs:label "epithelium of soft palate" -MONDO:0054813 rdfs:label "Ehlers-Danlos syndrome, classic-like, 2" +MONDO:0023182 rdfs:label "Franceschini Vardeu Guala syndrome" HP:0001873 rdfs:label "Thrombocytopenia" MONDO:0001872 rdfs:label "obsolete vestibular nystagmus" -MONDO:0023182 rdfs:label "Franceschini Vardeu Guala syndrome" MONDO:0007775 rdfs:label "hypersecretion of adrenal androgens, familial" UBERON:0005990 rdfs:label "aortic valve cusp" MONDO:0005002 rdfs:label "chronic obstructive pulmonary disease" @@ -10586,7 +10595,7 @@ ENVO:01001609 rdfs:label "cryospheric layer"@en MONDO:0000724 rdfs:label "specific language impairment" CL:1001434 rdfs:label "olfactory bulb interneuron" MONDO:0030998 rdfs:label "hearing loss, autosomal dominant 80" -MONDO:0013538 rdfs:label "alpha-2-macroglobulin deficiency" +MONDO:0013538 rdfs:label "obsolete alpha-2-macroglobulin deficiency" MONDO:0024560 rdfs:label "PDA1" MONDO:0011377 rdfs:label "long QT syndrome 3" UBERON:0004902 rdfs:label "urogenital sinus epithelium" @@ -10678,8 +10687,8 @@ UBERON:0003523 rdfs:label "manus blood vessel" MONDO:0001298 rdfs:label "congenital mitral valve insufficiency" MONDO:0002244 rdfs:label "factor VII deficiency" MONDO:0001474 rdfs:label "chronic salpingo-oophoritis" -GO:2000738 rdfs:label "positive regulation of stem cell differentiation" MONDO:0018944 rdfs:label "gestational trophoblastic neoplasm" +GO:2000738 rdfs:label "positive regulation of stem cell differentiation" CHR:9606-chr14q32 rdfs:label "14q32 (Human)" UBERON:0004222 rdfs:label "stomach smooth muscle" MONDO:0004674 rdfs:label "chorioretinitis" @@ -10732,8 +10741,8 @@ http://identifiers.org/hgnc/17646 rdfs:label "NGLY1" MONDO:0025003 rdfs:label "goat disease" MONDO:0012828 rdfs:label "atrial fibrillation, familial, 7" MONDO:0006248 rdfs:label "hydatidiform mole" -MONDO:0002708 rdfs:label "retinitis" UBERON:0008397 rdfs:label "tracheobronchial epithelium" +MONDO:0002708 rdfs:label "retinitis" MONDO:0009362 rdfs:label "growth delay-hydrocephaly-lung hypoplasia syndrome" MONDO:0030020 rdfs:label "combined oxidative phosphorylation deficiency 44" http://identifiers.org/hgnc/1122 rdfs:label "BTD" @@ -10801,9 +10810,9 @@ ENVO:00002030 rdfs:label "aquatic biome" MONDO:0022895 rdfs:label "craniosynostosis cleft lip palate arthrogryposis" MONDO:0017859 rdfs:label "colchicine poisoning" MONDO:0016605 rdfs:label "perinatal lethal hypophosphatasia" -UBERON:0003484 rdfs:label "eye sebaceous gland" MONDO:0013705 rdfs:label "intellectual disability, autosomal recessive 19" MONDO:0007238 rdfs:label "amastia" +UBERON:0003484 rdfs:label "eye sebaceous gland" MONDO:0018805 rdfs:label "bile duct cyst" MONDO:0005926 rdfs:label "obsolete poliomyelitis" MONDO:0019324 rdfs:label "pemphigus foliaceus" @@ -10820,10 +10829,10 @@ UBERON:0003727 rdfs:label "intercostal nerve" MONDO:0100032 rdfs:label "familial temporal lobe epilepsy syndrome" NCBITaxon:203691 rdfs:label "Spirochaetes" MONDO:0014994 rdfs:label "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" -UBERON:0003328 rdfs:label "mesenchyme of footplate" MONDO:0017389 rdfs:label "tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria" -UBERON:0004886 rdfs:label "lung hilus" +UBERON:0003328 rdfs:label "mesenchyme of footplate" MONDO:0018463 rdfs:label "mild phosphoribosylpyrophosphate synthetase superactivity" +UBERON:0004886 rdfs:label "lung hilus" MONDO:0023000 rdfs:label "dobrow syndrome" MONDO:0006530 rdfs:label "cholesteatoma" MONDO:0019207 rdfs:label "DEND syndrome" @@ -10878,8 +10887,8 @@ MONDO:0045032 rdfs:label "congenital secretory diarrhea" MONDO:0024623 rdfs:label "otorhinolaryngologic disease" http://identifiers.org/hgnc/15977 rdfs:label "HES7" http://identifiers.org/hgnc/11231 rdfs:label "ATL1" -UBERON:0014382 rdfs:label "collection of hairs on head or neck" MONDO:0001687 rdfs:label "diabetic cataract" +UBERON:0014382 rdfs:label "collection of hairs on head or neck" MONDO:0002329 rdfs:label "testicular disorder" MONDO:0003887 rdfs:label "ovarian mucinous adenofibroma" UBERON:0004478 rdfs:label "musculature of larynx" @@ -10887,9 +10896,9 @@ GO:0048812 rdfs:label "neuron projection morphogenesis" MONDO:0017638 rdfs:label "manganese poisoning" NCBITaxon:72274 rdfs:label "Pseudomonadales" MONDO:0043494 rdfs:label "arteritis" -UBERON:0001975 rdfs:label "serosa of esophagus" MONDO:0005705 rdfs:label "clonorchiasis" GO:0006743 rdfs:label "ubiquinone metabolic process" +UBERON:0001975 rdfs:label "serosa of esophagus" MONDO:0013873 rdfs:label "IMAGe syndrome" UBERON:0010260 rdfs:label "umbilical blood vessel" GO:0019220 rdfs:label "regulation of phosphate metabolic process" @@ -11112,13 +11121,13 @@ MONDO:0005120 rdfs:label "Drosophila C virus infection" UBERON:0014701 rdfs:label "extraembryonic vascular system" MONDO:0007963 rdfs:label "melanoma, cutaneous malignant, susceptibility to, 1" MONDO:0010796 rdfs:label "Parkinson disease, mitochondrial" -ECTO:0000486 rdfs:label "exposure to chemical with application" HP:0002651 rdfs:label "Spondyloepimetaphyseal dysplasia" +ECTO:0000486 rdfs:label "exposure to chemical with application" http://identifiers.org/hgnc/8840 rdfs:label "PEPD" UBERON:0012357 rdfs:label "digitopodium bone" MONDO:0016510 rdfs:label "epibulbar lipodermoid-preauricular appendage-polythelia syndrome" -MONDO:0020173 rdfs:label "benign tumor of palpebral epidermis" MONDO:0019691 rdfs:label "short rib dysplasia" +MONDO:0020173 rdfs:label "benign tumor of palpebral epidermis" MONDO:0010284 rdfs:label "Armfield syndrome" CHEBI:22881 rdfs:label "biopterins" MONDO:0024246 rdfs:label "syringofibroadenoma" @@ -11133,8 +11142,8 @@ http://identifiers.org/hgnc/18601 rdfs:label "RTN4R" MONDO:0006561 rdfs:label "eyelid hypopigmentation" MONDO:0024632 rdfs:label "defective phagocytic cell opsonization" UBERON:0011148 rdfs:label "submucosal gland" -http://identifiers.org/hgnc/4087 rdfs:label "GABRG2" MONDO:0008991 rdfs:label "Verloove Vanhorick-Brubakk syndrome" +http://identifiers.org/hgnc/4087 rdfs:label "GABRG2" MONDO:0014316 rdfs:label "Alzheimer disease 19" http://identifiers.org/hgnc/4263 rdfs:label "GHR" MONDO:0012042 rdfs:label "hirschsprung disease, susceptibility to, 8" @@ -11183,10 +11192,10 @@ MONDO:0002792 rdfs:label "cerebellar vermis medulloblastoma" CL:1000306 rdfs:label "fibroblast of tunica adventitia of artery" MONDO:0019502 rdfs:label "autosomal recessive non-syndromic intellectual disability" MONDO:0007176 rdfs:label "helicoid peripapillary chorioretinal degeneration" -UBERON:0005412 rdfs:label "optic fissure" MONDO:0024990 rdfs:label "swine disease" MONDO:0017359 rdfs:label "3-methylglutaconic aciduria" http://identifiers.org/hgnc/3544 rdfs:label "F7" +UBERON:0005412 rdfs:label "optic fissure" MONDO:0018305 rdfs:label "chronic granulomatous disease" MONDO:0044998 rdfs:label "carpal region disorder" MONDO:0016094 rdfs:label "vaginal germ cell malignant tumor" @@ -11230,13 +11239,13 @@ http://identifiers.org/hgnc/13222 rdfs:label "BCL11B" http://identifiers.org/hgnc/4452 rdfs:label "GPC4" MONDO:0020023 rdfs:label "respiratory or mediastinal malformation" UBERON:0004269 rdfs:label "upper arm connective tissue" -MONDO:0014872 rdfs:label "congenital stationary night blindness 1H" MONDO:0000914 rdfs:label "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1" +MONDO:0014872 rdfs:label "congenital stationary night blindness 1H" MONDO:0004382 rdfs:label "laryngeal disorder" UBERON:0009583 rdfs:label "spinal cord mantle layer" GO:0051038 rdfs:label "negative regulation of transcription involved in meiotic cell cycle" -NCBITaxon:43351 rdfs:label "Dientamoeba" MONDO:0018299 rdfs:label "obsolete sphingolipidosis with epilepsy" +NCBITaxon:43351 rdfs:label "Dientamoeba" CL:2000028 rdfs:label "cerebellum glutamatergic neuron" PATO:0000992 rdfs:label "viscosity" http://identifiers.org/hgnc/9067 rdfs:label "PLD1" @@ -11261,12 +11270,12 @@ MONDO:0000255 rdfs:label "subcutaneous mycosis" MONDO:0009363 rdfs:label "hydrocephaly-tall stature-joint laxity syndrome" MONDO:0003478 rdfs:label "childhood ependymoma" http://identifiers.org/hgnc/358 rdfs:label "AIP" -MONDO:0021370 rdfs:label "neoplasm of minor salivary gland" MONDO:0020666 rdfs:label "Löfgren syndrome" +MONDO:0021370 rdfs:label "neoplasm of minor salivary gland" CL:0000210 rdfs:label "photoreceptor cell" -NCBITaxon:72041 rdfs:label "Eumalacostraca" MONDO:0021747 rdfs:label "Acanthamoeba infectious disease" MONDO:0011890 rdfs:label "Charcot-Marie-Tooth disease type 1D" +NCBITaxon:72041 rdfs:label "Eumalacostraca" MONDO:0006854 rdfs:label "mesenchymoma" UBERON:0001742 rdfs:label "epiglottic cartilage" MONDO:0007800 rdfs:label "chromosome 18p deletion syndrome" @@ -11308,14 +11317,14 @@ http://identifiers.org/hgnc/20197 rdfs:label "SLC35C1" CHEBI:84410 rdfs:label "sphingoid base(1+)" MONDO:0014651 rdfs:label "acrofacial dysostosis Cincinnati type" UBERON:0004674 rdfs:label "facial nerve root" -MONDO:0008405 rdfs:label "scapula, contour of vertebral border of" +MONDO:0008405 rdfs:label "obsolete scapula, contour of vertebral border of" MONDO:0021193 rdfs:label "neuroepithelial neoplasm" MONDO:0016419 rdfs:label "hereditary breast carcinoma" MONDO:0008040 rdfs:label "transient myeloproliferative syndrome" GO:0031965 rdfs:label "nuclear membrane" http://identifiers.org/hgnc/7534 rdfs:label "MXI1" -MONDO:0020258 rdfs:label "obsolete oculomotor apraxia or related oculomotor disease" MONDO:0019776 rdfs:label "Juberg-Marsidi syndrome" +MONDO:0020258 rdfs:label "obsolete oculomotor apraxia or related oculomotor disease" UBERON:0012125 rdfs:label "dermatological-muscosal system" PO:0009046 rdfs:label "flower" NCBITaxon:6259 rdfs:label "Baylisascaris procyonis" @@ -11331,12 +11340,12 @@ MONDO:0100150 rdfs:label "RYR1-related myopathy" ECTO:9001701 rdfs:label "exposure to reagent" NCBITaxon:2704647 rdfs:label "Metakinetoplastina" CL:0002586 rdfs:label "retinal pigment epithelial cell" -UBERON:0015003 rdfs:label "ulna endochondral element" MONDO:0016606 rdfs:label "obsolete prenatal benign hypophosphatasia" MONDO:0037002 rdfs:label "benign phyllodes tumor" HP:0031258 rdfs:label "Delirium" MONDO:0013706 rdfs:label "intellectual disability, autosomal recessive 23" GO:0006575 rdfs:label "cellular modified amino acid metabolic process" +UBERON:0015003 rdfs:label "ulna endochondral element" MONDO:0018806 rdfs:label "primary intrahepatic lithiasis" CHEBI:22977 rdfs:label "cadmium atom" MONDO:0000034 rdfs:label "obsolete glomerulopathy with fibronectin deposits" @@ -11375,8 +11384,8 @@ MONDO:0019325 rdfs:label "phakomatosis cesioflammea" GO:0006941 rdfs:label "striated muscle contraction" ECTO:9001695 rdfs:label "exposure to nutrient" MONDO:0018651 rdfs:label "obsolete lipoyl transferase 2 deficiency" -UBERON:0006861 rdfs:label "diaphysis proper" MONDO:0007389 rdfs:label "spondylocostal dysostosis 5" +UBERON:0006861 rdfs:label "diaphysis proper" MONDO:0014278 rdfs:label "immunodeficiency 18" MONDO:0000463 rdfs:label "Ochoa syndrome" MONDO:0010766 rdfs:label "obsolete 46,XX sex reversal 1" @@ -11500,12 +11509,12 @@ MONDO:0011714 rdfs:label "partial lipodystrophy, congenital cataracts, and neuro MONDO:0004352 rdfs:label "adult brain ependymoma" GO:0043900 rdfs:label "obsolete regulation of multi-organism process" MONDO:0015070 rdfs:label "laryngeal neuroendocrine neoplasm" +UBERON:0009553 rdfs:label "distal segment of pedal digit" +UBERON:0003650 rdfs:label "metatarsal bone of digit 1" MONDO:0019661 rdfs:label "Pfeiffer syndrome type 3" http://identifiers.org/hgnc/473 rdfs:label "AMT" MONDO:0009838 rdfs:label "Parana hard-skin syndrome" http://identifiers.org/hgnc/9896 rdfs:label "RBM10" -UBERON:0009553 rdfs:label "distal segment of pedal digit" -UBERON:0003650 rdfs:label "metatarsal bone of digit 1" MONDO:0054763 rdfs:label "neurodegeneration with brain iron accumulation 7" ENVO:00000073 rdfs:label "building" MONDO:0012021 rdfs:label "myopia 17, autosomal dominant" @@ -11560,9 +11569,9 @@ MONDO:0010293 rdfs:label "ectodermal dysplasia and immune deficiency" MONDO:0005980 rdfs:label "tick infestation" ENVO:2000045 rdfs:label "hydrocarbon-based environmental material" UBERON:0008424 rdfs:label "inguinal mammary gland" -MONDO:0014152 rdfs:label "left ventricular noncompaction 8" MONDO:0012789 rdfs:label "dystonia 16" http://identifiers.org/hgnc/11948 rdfs:label "TNNT1" +MONDO:0014152 rdfs:label "left ventricular noncompaction 8" http://identifiers.org/hgnc/6055 rdfs:label "IMPG1" HP:0000828 rdfs:label "Abnormality of the parathyroid gland" MONDO:0013735 rdfs:label "microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome" @@ -11621,8 +11630,8 @@ MONDO:0015009 rdfs:label "lymphatic malformation 7" CL:0002188 rdfs:label "glomerular endothelial cell" NCBITaxon:7165 rdfs:label "Anopheles gambiae" MONDO:0012109 rdfs:label "hypertension, essential, susceptibility to, 4" -NCBITaxon:481310 rdfs:label "Demodex folliculorum" UBERON:0011299 rdfs:label "white matter of telencephalon" +NCBITaxon:481310 rdfs:label "Demodex folliculorum" UBERON:0004185 rdfs:label "endodermal part of digestive tract" GO:0010155 rdfs:label "regulation of proton transport" GO:2001234 rdfs:label "negative regulation of apoptotic signaling pathway" @@ -11658,7 +11667,7 @@ MONDO:0011127 rdfs:label "obsolete Bartter disease type 1" MONDO:0012685 rdfs:label "major affective disorder 5" MFOMD:0000105 rdfs:label "enuresis"@en UBERON:0005048 rdfs:label "mucosa of uterine tube" -MONDO:0016962 rdfs:label "partial duplication of the long arm of chromosome 11" +MONDO:0016962 rdfs:label "obsolete partial duplication of the long arm of chromosome 11" MONDO:0000433 rdfs:label "obsolete marginal zone B-cell lymphoma" NCBITaxon:118655 rdfs:label "Oropouche virus" MONDO:0003656 rdfs:label "hemoglobinuria" @@ -11790,9 +11799,9 @@ MONDO:0019998 rdfs:label "gastroduodenal malformation" MONDO:0006165 rdfs:label "colorectal squamous cell carcinoma" UBERON:0005029 rdfs:label "mucosa of lacrimal canaliculus" CHEBI:29202 rdfs:label "isocyanic acid" -UBERON:0002240 rdfs:label "spinal cord" GO:0030336 rdfs:label "negative regulation of cell migration" MONDO:0005785 rdfs:label "henipavirus infectious disease" +UBERON:0002240 rdfs:label "spinal cord" MONDO:0024412 rdfs:label "Peptostreptococcus infectious disease" MONDO:0003351 rdfs:label "colon leiomyosarcoma" MONDO:0008595 rdfs:label "trichoepitheliomas, multiple desmoplastic" @@ -11806,8 +11815,8 @@ MONDO:0011721 rdfs:label "distal myopathy with anterior tibial onset" CL:0002110 rdfs:label "B220-low CD38-positive naive B cell" UBERON:0011925 rdfs:label "preganglionic autonomic fiber" MONDO:0020024 rdfs:label "obsolete rare infertility" -MONDO:0013790 rdfs:label "mirror movements 2" MONDO:0000256 rdfs:label "systemic mycosis" +MONDO:0013790 rdfs:label "mirror movements 2" MONDO:0003479 rdfs:label "toxic pneumonitis" MONDO:0001202 rdfs:label "prostatic cyst" MONDO:0004383 rdfs:label "adult central nervous system germinoma" @@ -11888,9 +11897,9 @@ MONDO:0020259 rdfs:label "obsolete myopathy with eye involvement" MONDO:0015205 rdfs:label "isolated lissencephaly type 1 without known genetic defects" UBERON:0002328 rdfs:label "notochord" MONDO:0040922 rdfs:label "latent early syphilis" +UBERON:0001463 rdfs:label "manual digit 1" MONDO:0012694 rdfs:label "Joubert syndrome 7" MONDO:0011440 rdfs:label "hypertension, essential, susceptibility to, 2" -UBERON:0001463 rdfs:label "manual digit 1" NCBITaxon:186634 rdfs:label "Otomorpha" MONDO:0013640 rdfs:label "familial retinal arterial macroaneurysm" MONDO:0017883 rdfs:label "obsolete multilocular cystic clear cell renal cell neoplasm of low malignant potential" @@ -11968,8 +11977,8 @@ UBERON:0013515 rdfs:label "subdivision of oviduct" UBERON:0000118 rdfs:label "lung bud" MONDO:0010532 rdfs:label "infantile-onset X-linked spinal muscular atrophy" MONDO:0016694 rdfs:label "obsolete Pituicytoma" -http://identifiers.org/hgnc/6251 rdfs:label "KCNH2" GO:0015850 rdfs:label "organic hydroxy compound transport" +http://identifiers.org/hgnc/6251 rdfs:label "KCNH2" MONDO:0002091 rdfs:label "obsolete cryptosporidiosis" MONDO:0012297 rdfs:label "SPOAN syndrome" UBERON:0002149 rdfs:label "superior salivatory nucleus" @@ -11982,9 +11991,9 @@ MONDO:0060690 rdfs:label "phenytoin toxicity" MONDO:0001926 rdfs:label "ureteral disorder" http://identifiers.org/hgnc/11233 rdfs:label "SPAST" CHR:9606-chr15q rdfs:label "15q (Human)" +NCBITaxon:45219 rdfs:label "Guanarito mammarenavirus" MONDO:0008984 rdfs:label "ciliary discoordination due to random ciliary orientation" UBERON:0034978 rdfs:label "paraganglion (generic)" -NCBITaxon:45219 rdfs:label "Guanarito mammarenavirus" http://identifiers.org/hgnc/29918 rdfs:label "NDUFAF3" http://identifiers.org/hgnc/17175 rdfs:label "PLCE1" HP:0005120 rdfs:label "Abnormal cardiac atrium morphology" @@ -12045,9 +12054,9 @@ GO:0033152 rdfs:label "immunoglobulin V(D)J recombination" MONDO:0016473 rdfs:label "familial rhabdoid tumor" GO:0008104 rdfs:label "protein localization" GO:0007548 rdfs:label "sex differentiation" -NCBITaxon:12637 rdfs:label "Dengue virus" MONDO:0008437 rdfs:label "hereditary spastic paraplegia 3A" GO:0060467 rdfs:label "negative regulation of fertilization" +NCBITaxon:12637 rdfs:label "Dengue virus" MONDO:0009511 rdfs:label "Larsen-like syndrome, B3GAT3 type" MONDO:0014678 rdfs:label "intellectual disability, autosomal dominant 39" MONDO:0022897 rdfs:label "craniosynostosis exostoses nevus epibulbar dermoid" @@ -12089,17 +12098,17 @@ MONDO:0021044 rdfs:label "obsolete Wilms tumor" MONDO:0013549 rdfs:label "N-acetylaspartate deficiency" MONDO:0007606 rdfs:label "fibrodysplasia ossificans progressiva" MONDO:0007973 rdfs:label "mental and growth retardation with amblyopia" -MONDO:0015578 rdfs:label "obsolete rare mycosis" UBERON:0001979 rdfs:label "venule" +MONDO:0015578 rdfs:label "obsolete rare mycosis" UBERON:0001608 rdfs:label "dilatator pupillae" MONDO:0004668 rdfs:label "fascioliasis" CL:0019002 rdfs:label "tracheobronchial chondrocyte"@en UBERON:0008846 rdfs:label "skeletal ligament" -MONDO:0016520 rdfs:label "isolated Klippel-Feil syndrome" MONDO:0037255 rdfs:label "ovarian serous tumor" MONDO:0020183 rdfs:label "neurogenic palpebral tumor" -CHR:9606-chr7q11.2 rdfs:label "7q11.2 (Human)" +MONDO:0016520 rdfs:label "isolated Klippel-Feil syndrome" MONDO:0002448 rdfs:label "laryngeal sarcoma" +CHR:9606-chr7q11.2 rdfs:label "7q11.2 (Human)" MONDO:0013959 rdfs:label "Charcot-Marie-Tooth disease type 4F" MONDO:0010294 rdfs:label "X-linked severe congenital neutropenia" MONDO:0000287 rdfs:label "obsolete Lambert-Eaton myasthenic syndrome" @@ -12162,8 +12171,8 @@ MONDO:0012686 rdfs:label "major affective disorder 6" MONDO:0008602 rdfs:label "triglyceride storage disease, type 2" MONDO:0004353 rdfs:label "extrahepatic biliary papillomatosis" GO:1901534 rdfs:label "positive regulation of hematopoietic progenitor cell differentiation" -IAO:8000007 rdfs:label "curation subset ontology module"@en MONDO:0032569 rdfs:label "isolated growth hormone deficiency, type 5" +IAO:8000007 rdfs:label "curation subset ontology module"@en MONDO:0009839 rdfs:label "progressive supranuclear palsy-parkinsonism syndrome" MONDO:0007405 rdfs:label "Crouzon syndrome" GO:2001235 rdfs:label "positive regulation of apoptotic signaling pathway" @@ -12190,8 +12199,8 @@ MONDO:0009334 rdfs:label "hemolytic anemia with thermal sensitivity of red cells http://identifiers.org/hgnc/329 rdfs:label "AGRN" UBERON:0006246 rdfs:label "humerus pre-cartilage condensation" CHR:9606-chr6q24-q25 rdfs:label "6q24-q25 (Human)" -MONDO:0020676 rdfs:label "disorder of central nervous system or retinal vasculature" CHEBI:33663 rdfs:label "cyclic hydrocarbon" +MONDO:0020676 rdfs:label "disorder of central nervous system or retinal vasculature" MONDO:0011557 rdfs:label "radiation sensitivity/chromosome instability syndrome, autosomal dominant" MONDO:0021718 rdfs:label "polyneuritis" MONDO:0001211 rdfs:label "total internal ophthalmoplegia" @@ -12293,12 +12302,12 @@ MONDO:0044704 rdfs:label "oropharynx squamous cell carcinoma" GO:0046887 rdfs:label "positive regulation of hormone secretion" MONDO:0100160 rdfs:label "alcoholic ketoacidosis" MONDO:0020678 rdfs:label "sensorineural hearing loss disorder" -MONDO:0004906 rdfs:label "obsolete hereditary fructose intolerance syndrome" MONDO:0011559 rdfs:label "benign recurrent intrahepatic cholestasis type 2" +MONDO:0004906 rdfs:label "obsolete hereditary fructose intolerance syndrome" FOODON:03411433 rdfs:label "shellfish"@en UBERON:0003456 rdfs:label "respiratory system lymphatic vessel" MONDO:0006166 rdfs:label "columnar cell hyperplasia of the breast" -MONDO:0016963 rdfs:label "partial duplication of the long arm of chromosome 13" +MONDO:0016963 rdfs:label "obsolete partial duplication of the long arm of chromosome 13" MONDO:0016616 rdfs:label "oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies" GO:1900450 rdfs:label "negative regulation of glutamate receptor signaling pathway" UBERON:0004402 rdfs:label "bone tissue of proximal epiphysis" @@ -12489,9 +12498,9 @@ MONDO:0005623 rdfs:label "autoimmune thyroid disease" MONDO:0024290 rdfs:label "enuresis" MONDO:0009365 rdfs:label "hydrolethalus syndrome 1" UBERON:0007601 rdfs:label "ciliated epithelium" -UBERON:0002380 rdfs:label "trapezius muscle" MONDO:0012714 rdfs:label "early-onset myopathy with fatal cardiomyopathy" http://identifiers.org/hgnc/2379 rdfs:label "CRTAP" +UBERON:0002380 rdfs:label "trapezius muscle" PATO:0001576 rdfs:label "increased pressure" MONDO:0022823 rdfs:label "congenital contractures" GO:0051101 rdfs:label "regulation of DNA binding" @@ -12518,9 +12527,9 @@ http://identifiers.org/hgnc/67 rdfs:label "ABCD3" MONDO:0012298 rdfs:label "omphalocele, diaphragmatic hernia, and radial ray defects" MONDO:0018700 rdfs:label "obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy" MONDO:0024797 rdfs:label "adult brain stem neoplasm" -UBERON:0002497 rdfs:label "acromion" http://identifiers.org/hgnc/29941 rdfs:label "GATAD1" MONDO:0012474 rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy 4" +UBERON:0002497 rdfs:label "acromion" MONDO:0024626 rdfs:label "defective phagocytic cell engulfment" MONDO:0003541 rdfs:label "adult acute lymphoblastic leukemia" NCBITaxon:27994 rdfs:label "Theileriidae" @@ -12571,9 +12580,9 @@ ENVO:01001211 rdfs:label "stellar radiation"@en http://identifiers.org/hgnc/11642 rdfs:label "ZEB1" MONDO:0019663 rdfs:label "obsolete short rib-polydactyly syndrome, Saldino-Noonan type" MONDO:0054765 rdfs:label "amyloidosis, primary localized cutaneous, 3" -MONDO:0008110 rdfs:label "ocular dominance" -UBERON:0002046 rdfs:label "thyroid gland" +MONDO:0008110 rdfs:label "obsolete ocular dominance" MONDO:0012023 rdfs:label "autosomal dominant nonsyndromic hearing loss 49" +UBERON:0002046 rdfs:label "thyroid gland" MONDO:0003157 rdfs:label "disappearing bone disease" MONDO:0010711 rdfs:label "TARP syndrome" UBERON:0004889 rdfs:label "lobar bronchus vasculature" @@ -12606,8 +12615,8 @@ MONDO:0020184 rdfs:label "obsolete rare eyebrow/eyelashes anomaly" MONDO:0010295 rdfs:label "anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome" http://identifiers.org/hgnc/30892 rdfs:label "HUWE1" MONDO:0016695 rdfs:label "oligodendroglioma" -MONDO:0018895 rdfs:label "Plummer-Vinson syndrome" GO:0055025 rdfs:label "positive regulation of cardiac muscle tissue development" +MONDO:0018895 rdfs:label "Plummer-Vinson syndrome" MONDO:0008659 rdfs:label "transcobalamin I deficiency" NCBITaxon:91493 rdfs:label "Exserohilum" http://identifiers.org/hgnc/21246 rdfs:label "PNPLA1" @@ -12665,8 +12674,8 @@ GO:0048638 rdfs:label "regulation of developmental growth" MONDO:0010713 rdfs:label "properdin deficiency, X-linked" MONDO:0033558 rdfs:label "autoinflammation, immune dysregulation, and eosinophilia" MONDO:0019442 rdfs:label "obsolete congenital toxoplasmosis" -http://identifiers.org/hgnc/9039 rdfs:label "PLA2G6" MONDO:0013160 rdfs:label "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2" +http://identifiers.org/hgnc/9039 rdfs:label "PLA2G6" MONDO:0015378 rdfs:label "fourth branchial cleft anomaly" MONDO:0014469 rdfs:label "autosomal recessive nonsyndromic hearing loss 103" MONDO:0016324 rdfs:label "obsolete hypertrophic cardiomyopathy" @@ -12750,7 +12759,7 @@ GO:2001171 rdfs:label "positive regulation of ATP biosynthetic process" UBERON:0001252 rdfs:label "adventitia of ureter" ECTO:0000699 rdfs:label "exposure to probe" MONDO:0056799 rdfs:label "synovium disorder" -MONDO:0030032 rdfs:label "chromosome 17q11.2 duplication syndrome, 1.4-mb" +MONDO:0030032 rdfs:label "obsolete chromosome 17q11.2 duplication syndrome, 1.4-mb" UBERON:0012253 rdfs:label "cervical squamo-columnar junction" MONDO:0009764 rdfs:label "ocular motor apraxia, Cogan type" MONDO:0008994 rdfs:label "cleidocranial dysplasia, recessive form" @@ -12771,12 +12780,12 @@ MONDO:0020397 rdfs:label "parachute tricuspid valve" MONDO:0020573 rdfs:label "inherited disease susceptibility" MONDO:0044079 rdfs:label "cardio-renal syndrome" MONDO:0013611 rdfs:label "retinitis pigmentosa 62" -UBERON:0007376 rdfs:label "outer epithelium" MONDO:0003604 rdfs:label "functioning pituitary gland neoplasm" MONDO:0005227 rdfs:label "abscess" MONDO:0011450 rdfs:label "breast-ovarian cancer, familial, susceptibility to, 1" UBERON:0001473 rdfs:label "lymphatic vessel" MONDO:0006785 rdfs:label "obsolete Henoch-Schoenlein purpura" +UBERON:0007376 rdfs:label "outer epithelium" NCBITaxon:44281 rdfs:label "Pneumocystidaceae" MONDO:0007296 rdfs:label "spinocerebellar ataxia type 31" GO:0046888 rdfs:label "negative regulation of hormone secretion" @@ -12815,8 +12824,8 @@ MONDO:0043759 rdfs:label "abdominal ectopic pregnancy" UBERON:0006247 rdfs:label "iliac pre-cartilage condensation" MONDO:0044705 rdfs:label "paranasal sinus squamous cell carcinoma" MFOMD:0000107 rdfs:label "compulsion"@en -MONDO:0020679 rdfs:label "conductive hearing loss disorder" MONDO:0004907 rdfs:label "alopecia" +MONDO:0020679 rdfs:label "conductive hearing loss disorder" MONDO:0006167 rdfs:label "combined lung carcinoma" UBERON:0002242 rdfs:label "nucleus pulposus" CHR:9606-chr4p16 rdfs:label "4p16 (Human)" @@ -12923,8 +12932,8 @@ MONDO:0004801 rdfs:label "unilateral hypoactive labyrinth" GO:0010608 rdfs:label "posttranscriptional regulation of gene expression" UBERON:0001278 rdfs:label "epithelium of large intestine" MONDO:0022822 rdfs:label "congenital cardiovascular shunt" -MONDO:0008493 rdfs:label "overhydrated hereditary stomatocytosis" MONDO:0033211 rdfs:label "diencephalic-mesencephalic junction dysplasia syndrome" +MONDO:0008493 rdfs:label "overhydrated hereditary stomatocytosis" MONDO:0015996 rdfs:label "obsolete systemic capillary leak syndrome" http://identifiers.org/hgnc/2505 rdfs:label "CTLA4" UBERON:0013478 rdfs:label "cecal tonsil" @@ -12933,9 +12942,9 @@ MONDO:0019126 rdfs:label "intractable diarrhea of infancy" MONDO:0009966 rdfs:label "NPHP3-related Meckel-like syndrome" NCIT:C19085 rdfs:label "Sexual Transmission" IAO:0000104 rdfs:label "plan specification"@en +UBERON:0003457 rdfs:label "head bone" MONDO:0013434 rdfs:label "primary ciliary dyskinesia 14" MONDO:0002866 rdfs:label "duodenal disorder" -UBERON:0003457 rdfs:label "head bone" UBERON:0004403 rdfs:label "periosteum of epiphysis" UBERON:0013686 rdfs:label "anatomical conduit space" GO:0045916 rdfs:label "negative regulation of complement activation" @@ -13084,9 +13093,9 @@ UBERON:0002047 rdfs:label "pontine raphe nucleus" MONDO:0002530 rdfs:label "obsolete malignant spindle cell melanoma" MONDO:0015207 rdfs:label "non-syndromic esophageal malformation" MONDO:0012307 rdfs:label "familial scaphocephaly syndrome, McGillivray type" +UBERON:0008974 rdfs:label "apocrine gland" MONDO:0012696 rdfs:label "otosclerosis 4" MONDO:0011442 rdfs:label "advanced sleep phase syndrome 1" -UBERON:0008974 rdfs:label "apocrine gland" GO:0060491 rdfs:label "regulation of cell projection assembly" MONDO:0013642 rdfs:label "holoprosencephaly 11" UBERON:0009920 rdfs:label "optic neural crest" @@ -13097,9 +13106,9 @@ MONDO:0015809 rdfs:label "localized pagetoid reticulosis" UBERON:0005363 rdfs:label "inferior vagus X ganglion" CL:0002589 rdfs:label "smooth muscle cell of the brachiocephalic vasculature" UBERON:0016612 rdfs:label "auditory hillocks, pharyngeal arch 2 derived" +UBERON:0003488 rdfs:label "abdominal mammary gland" http://identifiers.org/hgnc/11714 rdfs:label "TEAD1" MONDO:0013709 rdfs:label "intellectual disability, autosomal recessive 28" -UBERON:0003488 rdfs:label "abdominal mammary gland" MONDO:0017065 rdfs:label "lumbosacral spina bifida aperta" HP:0003468 rdfs:label "Abnormal vertebral morphology" MONDO:0003971 rdfs:label "gastric pylorus carcinoma" @@ -13152,19 +13161,19 @@ CHEBI:33860 rdfs:label "aromatic amine" MONDO:0021915 rdfs:label "arakawa syndrome 2" HP:0000853 rdfs:label "Goiter" MONDO:0000852 rdfs:label "obsolete hypochondrogenesis" -UBERON:0001317 rdfs:label "internal iliac vein" MONDO:0016522 rdfs:label "Kousseff syndrome" CHEBI:76773 rdfs:label "EC 3.1.1.* (carboxylic ester hydrolase) inhibitor" +UBERON:0001317 rdfs:label "internal iliac vein" MONDO:0020185 rdfs:label "obsolete eyebrow/eyelashes hypertrichosis" CL:0000831 rdfs:label "mast cell progenitor" MONDO:0010296 rdfs:label "immunodeficiency 61" HP:0010765 rdfs:label "Palmar hyperkeratosis" PATO:0002181 rdfs:label "displaced" -MONDO:0022448 rdfs:label "obsolete amyoplasia mandibulofacial dysostosis" MONDO:0000289 rdfs:label "obsolete selective IgM deficiency disease" -MONDO:0017759 rdfs:label "disorder of catecholamine synthesis" +MONDO:0022448 rdfs:label "obsolete amyoplasia mandibulofacial dysostosis" http://identifiers.org/hgnc/13887 rdfs:label "ABCG8" MONDO:0001363 rdfs:label "blind hypertensive eye" +MONDO:0017759 rdfs:label "disorder of catecholamine synthesis" UBERON:0010129 rdfs:label "femur cartilage element" MONDO:0016696 rdfs:label "anaplastic oligodendroglioma" MONDO:0023561 rdfs:label "Koone-Rizzo-Elias syndrome" @@ -13214,8 +13223,8 @@ MONDO:0020081 rdfs:label "macrophage or histiocytic tumor" CL:2000040 rdfs:label "bladder microvascular endothelial cell" HP:0003351 rdfs:label "Decreased circulating renin level" MONDO:0019514 rdfs:label "hepatic veno-occlusive disease" -MONDO:0004093 rdfs:label "esophageal basaloid carcinoma" MONDO:0016288 rdfs:label "obsolete glassy cell carcinoma of the cervix uteri" +MONDO:0004093 rdfs:label "esophageal basaloid carcinoma" GO:2000196 rdfs:label "positive regulation of female gonad development" MONDO:0031200 rdfs:label "Bryant-Li-Bhoj neurodevelopmental syndrome" NCBITaxon:84527 rdfs:label "Metagonimus" @@ -13252,9 +13261,9 @@ GO:0043903 rdfs:label "regulation of biological process involved in symbiotic in HP:0032158 rdfs:label "Unusual infection by anatomical site" MONDO:0003681 rdfs:label "myxoid chondrosarcoma" MONDO:0001213 rdfs:label "serous glue ear" +MONDO:0021211 rdfs:label "brain neoplasm" HP:0030718 rdfs:label "Right atrial enlargement" MONDO:0009043 rdfs:label "generalized resistance to thyroid hormone" -MONDO:0021211 rdfs:label "brain neoplasm" MONDO:0017057 rdfs:label "hereditary thrombocytopenia with normal platelets" MONDO:0015745 rdfs:label "microcephaly-polymicrogyria-corpus callosum agenesis syndrome" GO:0055026 rdfs:label "negative regulation of cardiac muscle tissue development" @@ -13296,8 +13305,8 @@ GO:0009888 rdfs:label "tissue development" MONDO:0013350 rdfs:label "mitochondrial DNA depletion syndrome 4b" MONDO:0010964 rdfs:label "epiphyseal dysplasia, multiple, 3" http://identifiers.org/hgnc/2701 rdfs:label "DCC" -MONDO:0000844 rdfs:label "obsolete spondyloepimetaphyseal dysplasia" NCBITaxon:2845253 rdfs:label "Treponemataceae" +MONDO:0000844 rdfs:label "obsolete spondyloepimetaphyseal dysplasia" MONDO:0016138 rdfs:label "obsolete malignant lymphoma with peripheral neuropathy" MONDO:0005228 rdfs:label "obsolete anaplastic large cell lymphoma" GO:0005766 rdfs:label "primary lysosome" @@ -13331,8 +13340,8 @@ MONDO:0020398 rdfs:label "congenital mitral stenosis" http://identifiers.org/hgnc/11183 rdfs:label "SON" MF:0000076 rdfs:label "intentional modality"@en MONDO:0020574 rdfs:label "central nervous system nongerminomatous germ cell tumor" -MONDO:0002218 rdfs:label "temporal lobe cancer" CHEBI:76413 rdfs:label "greenhouse gas" +MONDO:0002218 rdfs:label "temporal lobe cancer" MONDO:0003776 rdfs:label "renal pelvis inverted papilloma" HP:0007360 rdfs:label "Aplasia/Hypoplasia of the cerebellum" MONDO:0060533 rdfs:label "microcephaly, short stature, and limb abnormalities" @@ -13448,7 +13457,7 @@ NCIT:C16152 rdfs:label "HER2/Neu Status" MONDO:0044791 rdfs:label "combined hepatocellular carcinoma and cholangiocarcinoma" HP:0002017 rdfs:label "Nausea and vomiting" FOODON:00002196 rdfs:label "refined or partially-refined food product"@en -MONDO:0013612 rdfs:label "Geleophysic dysplasia 2" +MONDO:0013612 rdfs:label "geleophysic dysplasia 2" MONDO:0003607 rdfs:label "neuritis of upper limb" MONDO:0008494 rdfs:label "cryohydrocytosis" MONDO:0015997 rdfs:label "ectopia lentis-chorioretinal dystrophy-myopia syndrome" @@ -13489,8 +13498,8 @@ PATO:0000052 rdfs:label "shape" GO:2001198 rdfs:label "regulation of dendritic cell differentiation" MONDO:0010895 rdfs:label "ABCD syndrome" MONDO:0020634 rdfs:label "grade III meningioma" -MONDO:0011841 rdfs:label "biotin-responsive basal ganglia disease" MONDO:0001879 rdfs:label "anus cancer" +MONDO:0011841 rdfs:label "biotin-responsive basal ganglia disease" UBERON:0013479 rdfs:label "lung endothelium" ECTO:7000063 rdfs:label "exposure to water in environment" MONDO:0018758 rdfs:label "familial patent arterial duct" @@ -13498,21 +13507,21 @@ MONDO:0019127 rdfs:label "polymyositis" MONDO:0016484 rdfs:label "Usher syndrome type 2" MONDO:0017430 rdfs:label "non-syndromic congenital joint dislocations" MONDO:0008880 rdfs:label "Bowen syndrome of multiple malformations" +UBERON:0003458 rdfs:label "neck bone" MONDO:0004908 rdfs:label "obsolete galactosemia" MONDO:0014205 rdfs:label "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome" MONDO:0013435 rdfs:label "primary ciliary dyskinesia 15" -UBERON:0003458 rdfs:label "neck bone" MONDO:0006168 rdfs:label "obsolete common hematopoietic neoplasm" UBERON:0004404 rdfs:label "distal epiphysis of humerus" -GO:0005979 rdfs:label "regulation of glycogen biosynthetic process" MONDO:0003354 rdfs:label "heart sarcoma" +GO:0005979 rdfs:label "regulation of glycogen biosynthetic process" MONDO:0040925 rdfs:label "latent yaws" UBERON:0006834 rdfs:label "uterus or analog" http://identifiers.org/hgnc/6318 rdfs:label "KIF2A" -UBERON:0012467 rdfs:label "enclosed anatomical space" http://identifiers.org/hgnc/15561 rdfs:label "IL36RN" MONDO:0017886 rdfs:label "MIT family translocation renal cell carcinoma" CHEBI:27024 rdfs:label "toluenes" +UBERON:0012467 rdfs:label "enclosed anatomical space" SO:0000011 rdfs:label "non_protein_coding" CL:0002113 rdfs:label "B220-low CD38-negative unswitched memory B cell" http://identifiers.org/hgnc/5103 rdfs:label "HOXA2" @@ -13564,8 +13573,8 @@ MONDO:0000259 rdfs:label "asymptomatic dengue" NCBITaxon:33743 rdfs:label "Kyasanur Forest disease virus" MONDO:0018233 rdfs:label "otopalatodigital syndrome spectrum disorder" MONDO:0021374 rdfs:label "neoplasm of cerebral hemisphere" -MONDO:0001205 rdfs:label "hypersecretion glaucoma" MONDO:0012716 rdfs:label "spondyloepiphyseal dysplasia, Cantu type" +MONDO:0001205 rdfs:label "hypersecretion glaucoma" MONDO:0022457 rdfs:label "ankyloblepharon filiforme imperforate anus" MONDO:0021203 rdfs:label "serous otitis media" MONDO:0004405 rdfs:label "Barrett adenocarcinoma" @@ -13601,13 +13610,13 @@ MONDO:0004271 rdfs:label "pregnancy adenoma" UBERON:0012246 rdfs:label "thyroid follicular lumen" MONDO:0036990 rdfs:label "benign Leydig cell tumor" UBERON:0009472 rdfs:label "axilla" +UBERON:0001279 rdfs:label "portal triad" GO:0060764 rdfs:label "cell-cell signaling involved in mammary gland development" MONDO:0003074 rdfs:label "obsolete familial retinoblastoma" SO:0001877 rdfs:label "lncRNA" +MONDO:0014479 rdfs:label "porokeratosis 8, disseminated superficial actinic type" MONDO:0011256 rdfs:label "emphysema, congenital, with deafness, penoscrotal web, and intellectual disability" MONDO:0000688 rdfs:label "inherited organic acidemia" -UBERON:0001279 rdfs:label "portal triad" -MONDO:0014479 rdfs:label "porokeratosis 8, disseminated superficial actinic type" MONDO:0012202 rdfs:label "malaria, mild, susceptibility to" http://identifiers.org/hgnc/17416 rdfs:label "ADGRV1" MONDO:0006450 rdfs:label "therapy-related myeloid neoplasm" @@ -13776,18 +13785,18 @@ MONDO:0012926 rdfs:label "amelogenesis imperfecta hypomaturation type 2A2" MONDO:0020082 rdfs:label "dendritic cell tumor" MONDO:0016289 rdfs:label "malignant germ cell tumor of cervix uteri" MONDO:0003113 rdfs:label "extragonadal germ cell cancer" +MONDO:0025417 rdfs:label "fowlpox" MONDO:0023111 rdfs:label "familial capillaro-venous leptomeningeal angiomatosis" ENVO:01000267 rdfs:label "atmosphere" -MONDO:0025417 rdfs:label "fowlpox" MONDO:0004356 rdfs:label "childhood multilocular cystic kidney neoplasm" MONDO:0015074 rdfs:label "thyroid tumor" HP:0011107 rdfs:label "Recurrent aphthous stomatitis" MONDO:0019665 rdfs:label "monostotic fibrous dysplasia" -MONDO:0008112 rdfs:label "obsolete Goldenhar syndrome" UBERON:0003654 rdfs:label "metatarsal bone of digit 5" +MONDO:0008112 rdfs:label "obsolete Goldenhar syndrome" MONDO:0012025 rdfs:label "branchiootic syndrome 3" -MONDO:0009670 rdfs:label "lethal congenital contracture syndrome 1" MONDO:0003159 rdfs:label "vascular hemostatic disease" +MONDO:0009670 rdfs:label "lethal congenital contracture syndrome 1" MONDO:0013669 rdfs:label "breast-ovarian cancer, familial, susceptibility to, 4" UBERON:0000004 rdfs:label "nose" http://identifiers.org/hgnc/9388 rdfs:label "PRKAR1A" @@ -13806,8 +13815,8 @@ GO:0006464 rdfs:label "cellular protein modification process" MONDO:0010067 rdfs:label "splenoportal vascular anomalies" CHR:9606-chrXq25 rdfs:label "Xq25 (Human)" MONDO:0007930 rdfs:label "Bernard-Soulier syndrome, type A2, autosomal dominant" -MONDO:0032923 rdfs:label "spinocerebellar ataxia, autosomal recessive 28" MONDO:0013466 rdfs:label "orofacial cleft 13" +MONDO:0032923 rdfs:label "spinocerebellar ataxia, autosomal recessive 28" MONDO:0014540 rdfs:label "amelogenesis imperfecta type 1H" MONDO:0001060 rdfs:label "microinvasive gastric cancer" NCBITaxon:640628 rdfs:label "Poinae" @@ -13978,8 +13987,8 @@ MONDO:0009766 rdfs:label "oculocerebral hypopigmentation syndrome of Preus" MONDO:0008996 rdfs:label "COACH syndrome 1" PATO:0002011 rdfs:label "neoplastic" UBERON:0007239 rdfs:label "tunica media of artery" -MONDO:0013234 rdfs:label "hypokalemic periodic paralysis, type 2" MONDO:0010011 rdfs:label "schizencephaly" +MONDO:0013234 rdfs:label "hypokalemic periodic paralysis, type 2" MONDO:0014792 rdfs:label "Paget disease of bone 6" MONDO:0012211 rdfs:label "MPDU1-CDG" MONDO:0018373 rdfs:label "avascular necrosis" @@ -13998,8 +14007,8 @@ MONDO:0013613 rdfs:label "Leber congenital amaurosis 16" MONDO:0011452 rdfs:label "hypotrichosis 7" MONDO:0008495 rdfs:label "platelet storage pool deficiency" MONDO:0015998 rdfs:label "isolated ectopia lentis" -NCBITaxon:54292 rdfs:label "Apodemus flavicollis" UBERON:0001867 rdfs:label "cartilage of external ear" +NCBITaxon:54292 rdfs:label "Apodemus flavicollis" ECTO:7000064 rdfs:label "exposure to air" MONDO:0005986 rdfs:label "torovirus infectious disease" http://identifiers.org/hgnc/9414 rdfs:label "PRKG1" @@ -14096,9 +14105,9 @@ MONDO:0021375 rdfs:label "tumor of duodenum" MONDO:0012717 rdfs:label "renal hypomagnesemia 4" MONDO:0004805 rdfs:label "leukocyte disorder" MONDO:0003075 rdfs:label "bilateral retinoblastoma" -MONDO:0022826 rdfs:label "congenital cystic eye multiple ocular and intracranial anomalies" MONDO:0000689 rdfs:label "obsolete survival motor neuron spinal muscular atrophy" MONDO:0004406 rdfs:label "adult central nervous system mixed germ cell tumor" +MONDO:0022826 rdfs:label "congenital cystic eye multiple ocular and intracranial anomalies" MONDO:0001763 rdfs:label "ethmoid sinus cancer" MONDO:0006859 rdfs:label "mucinous cystadenoma" GO:0032217 rdfs:label "riboflavin transmembrane transporter activity" @@ -14119,8 +14128,8 @@ GO:0080090 rdfs:label "regulation of primary metabolic process" MONDO:0020740 rdfs:label "ectodermal dysplasia and immunodeficiency 1" NCBITaxon:7952 rdfs:label "Cypriniformes" GO:0003071 rdfs:label "renal system process involved in regulation of systemic arterial blood pressure" -UBERON:0004407 rdfs:label "distal epiphysis of radius" MONDO:0019570 rdfs:label "Cockayne syndrome type 2" +UBERON:0004407 rdfs:label "distal epiphysis of radius" MONDO:0013039 rdfs:label "3M syndrome 2" MONDO:0014597 rdfs:label "immunodeficiency 39" MONDO:0008660 rdfs:label "autosomal dominant hypophosphatemic rickets" @@ -14130,8 +14139,8 @@ MONDO:0007463 rdfs:label "distal osteosclerosis" MONDO:0005847 rdfs:label "middle lobe syndrome" GO:0005759 rdfs:label "mitochondrial matrix" MONDO:0001950 rdfs:label "corneal ectasia" -http://identifiers.org/hgnc/29944 rdfs:label "TENM3" HP:0001595 rdfs:label "Abnormal hair morphology" +http://identifiers.org/hgnc/29944 rdfs:label "TENM3" FOODON:03460111 rdfs:label "food treatment process"@en NCBITaxon:7178 rdfs:label "Culex tritaeniorhynchus" UBERON:0012247 rdfs:label "cervical gland" @@ -14149,8 +14158,8 @@ MONDO:0013436 rdfs:label "retinitis pigmentosa 39" MONDO:0021019 rdfs:label "X-linked recessive ocular albinism" GO:0032387 rdfs:label "negative regulation of intracellular transport" PATO:0001987 rdfs:label "saccular" -MONDO:0017184 rdfs:label "autosomal dominant hyperinsulinism due to SUR1 deficiency" MONDO:0010735 rdfs:label "Kennedy disease" +MONDO:0017184 rdfs:label "autosomal dominant hyperinsulinism due to SUR1 deficiency" MONDO:0012309 rdfs:label "parietal foramina 2" MONDO:0010911 rdfs:label "prolactin-producing pituitary gland adenoma" MONDO:0017841 rdfs:label "obsolete autoimmune disease with skin involvement" @@ -14265,8 +14274,8 @@ MONDO:0003544 rdfs:label "spinal cord cancer" GO:0044448 rdfs:label "obsolete cell cortex part" MONDO:0020595 rdfs:label "disorder of retroperitoneum" MONDO:0021637 rdfs:label "low grade glioma" -MONDO:0001130 rdfs:label "nasal cavity lymphoma" MONDO:0011780 rdfs:label "specific language impairment 3" +MONDO:0001130 rdfs:label "nasal cavity lymphoma" MONDO:0007033 rdfs:label "abducens nerve palsy" UBERON:0004198 rdfs:label "comma-shaped body" UBERON:0005144 rdfs:label "metanephric glomerular capillary" @@ -14285,11 +14294,11 @@ HP:0001718 rdfs:label "Mitral stenosis" MONDO:0018319 rdfs:label "familial episodic pain syndrome" UBERON:0002049 rdfs:label "vasculature" MONDO:0025096 rdfs:label "malignant catarrh" +MONDO:0018790 rdfs:label "obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy" MONDO:0001586 rdfs:label "mucopolysaccharidosis type 1" CHEBI:83039 rdfs:label "crustacean metabolite" -MONDO:0018790 rdfs:label "obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy" -MONDO:0008113 rdfs:label "Schilbach-Rott syndrome" http://identifiers.org/hgnc/30213 rdfs:label "ATP13A2" +MONDO:0008113 rdfs:label "Schilbach-Rott syndrome" MONDO:0012026 rdfs:label "obsolete myotonia, potassium-aggravated" MONDO:0009671 rdfs:label "intellectual disability-myopathy-short stature-endocrine defect syndrome" http://identifiers.org/hgnc/1041 rdfs:label "BFSP2" @@ -14304,7 +14313,7 @@ NCBITaxon:12663 rdfs:label "Feline coronavirus" UBERON:0006562 rdfs:label "pharynx" MONDO:0044716 rdfs:label "obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome" MONDO:0012719 rdfs:label "encephalopathy due to prosaposin deficiency" -http://identifiers.org/hgnc/27232 rdfs:label "C8orf37" +http://identifiers.org/hgnc/27232 rdfs:label "CFAP418" UBERON:0002385 rdfs:label "muscle tissue" MONDO:0032688 rdfs:label "polymicrogyria with or without vascular-type ehlers-danlos syndrome" MONDO:0009515 rdfs:label "Norum disease" @@ -14327,9 +14336,9 @@ GO:0018904 rdfs:label "ether metabolic process" MONDO:0006536 rdfs:label "congenital generalized lipodystrophy" UBERON:0001729 rdfs:label "oropharynx" UBERON:0011091 rdfs:label "skeleton of left pelvic girdle" +HP:0000668 rdfs:label "Hypodontia" MONDO:0009912 rdfs:label "prolactin deficiency with obesity and enlarged testes" http://identifiers.org/hgnc/1958 rdfs:label "CHRNA4" -HP:0000668 rdfs:label "Hypodontia" MONDO:0018039 rdfs:label "selective IgM deficiency" CL:0000646 rdfs:label "basal cell" UBERON:0000458 rdfs:label "endocervix" @@ -14381,8 +14390,8 @@ CHEBI:48873 rdfs:label "cholinergic antagonist" CHEBI:33888 rdfs:label "cobalt molecular entity" MONDO:0024965 rdfs:label "muscular dystrophy, non-human animal" MONDO:0001436 rdfs:label "hemosiderosis" -MONDO:0003405 rdfs:label "adult central nervous system germ cell tumor" MONDO:0007339 rdfs:label "blepharocheilodontic syndrome" +MONDO:0003405 rdfs:label "adult central nervous system germ cell tumor" MONDO:0004812 rdfs:label "acute dacryoadenitis" MONDO:0020605 rdfs:label "X-linked recessive disease" MONDO:0010716 rdfs:label "X-linked lethal multiple pterygium syndrome" @@ -14465,7 +14474,7 @@ MONDO:0025135 rdfs:label "tuberculosis, avian" MONDO:0018172 rdfs:label "malignant sex cord stromal tumor of ovary" GO:0010893 rdfs:label "positive regulation of steroid biosynthetic process" MONDO:0009494 rdfs:label "obsolete Ketoadipicaciduria" -MONDO:0008326 rdfs:label "pseudocholinesterase, increase in plasma level of" +MONDO:0008326 rdfs:label "obsolete pseudocholinesterase, increase in plasma level of" GO:0030234 rdfs:label "enzyme regulator activity" MONDO:0010591 rdfs:label "fingerprint body myopathy" MONDO:0022786 rdfs:label "cleft palate colobomata radial synostosis deafness" @@ -14507,10 +14516,10 @@ NCBITaxon:186625 rdfs:label "Clupeocephala" UBERON:0005270 rdfs:label "renal cortex interstitium" MONDO:0013352 rdfs:label "intellectual disability-severe speech delay-mild dysmorphism syndrome" HP:0002019 rdfs:label "Constipation" -MONDO:0019059 rdfs:label "obsolete rare parkinsonian disorder" http://identifiers.org/hgnc/14889 rdfs:label "DNAJB11" -MONDO:0013614 rdfs:label "hypertelorism-preauricular sinus-punctual pits-deafness syndrome" HP:0000707 rdfs:label "Abnormality of the nervous system" +MONDO:0019059 rdfs:label "obsolete rare parkinsonian disorder" +MONDO:0013614 rdfs:label "hypertelorism-preauricular sinus-punctual pits-deafness syndrome" CL:1000143 rdfs:label "lung goblet cell" MONDO:0003271 rdfs:label "iodine hypothyroidism" MONDO:0003609 rdfs:label "seminal vesicle cystadenoma" @@ -14544,15 +14553,15 @@ MONDO:0002541 rdfs:label "spinal cord oligodendroglioma" MONDO:0018937 rdfs:label "mucopolysaccharidosis type 3" MONDO:0004804 rdfs:label "dacryoadenitis" UBERON:8410008 rdfs:label "venule of anorectum" -MONDO:0003778 rdfs:label "primary immunodeficiency disease" +MONDO:0003778 rdfs:label "inborn errors of immunity" CL:1000490 rdfs:label "mesothelial cell of peritoneum" MONDO:0011453 rdfs:label "ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia" MONDO:0010897 rdfs:label "schizophrenia 3" MONDO:0020636 rdfs:label "mendelian susceptibility to mycobacterial diseases due to a complete deficiency" MONDO:0011843 rdfs:label "hypertrophic cardiomyopathy 25" NCBITaxon:2560547 rdfs:label "La Crosse orthobunyavirus" -UBERON:0011234 rdfs:label "fibrous membrane of synovial tendon sheath" MONDO:0100164 rdfs:label "permanent neonatal diabetes mellitus" +UBERON:0011234 rdfs:label "fibrous membrane of synovial tendon sheath" UBERON:0004120 rdfs:label "mesoderm-derived structure" UBERON:0004406 rdfs:label "distal epiphysis of femur" http://identifiers.org/hgnc/29420 rdfs:label "RSPRY1" @@ -14612,8 +14621,8 @@ MONDO:0004407 rdfs:label "stroma-dominant and stroma-poor composite ganglioneuro MONDO:0013616 rdfs:label "pigmented nodular adrenocortical disease, primary, 3" ENVO:01000993 rdfs:label "manufacturing process"@en MONDO:0002320 rdfs:label "congenital nervous system disorder" -UBERON:0004493 rdfs:label "cardiac muscle tissue of myocardium" GO:0032218 rdfs:label "riboflavin transport" +UBERON:0004493 rdfs:label "cardiac muscle tissue of myocardium" GO:0006875 rdfs:label "cellular metal ion homeostasis" MONDO:0017653 rdfs:label "obsolete epilepsy and/or ataxia with myoclonus as major feature" MONDO:0016195 rdfs:label "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)" @@ -14629,8 +14638,8 @@ MONDO:0021447 rdfs:label "benign neoplasm of testis" UBERON:0016530 rdfs:label "parietal cortex" CL:0002336 rdfs:label "buccal mucosa cell" MONDO:0008192 rdfs:label "paragangliomas 1" -UBERON:0004376 rdfs:label "fin bone" MONDO:0005848 rdfs:label "miliary tuberculosis" +UBERON:0004376 rdfs:label "fin bone" NCBITaxon:156300 rdfs:label "Chaetothyriales incertae sedis" MONDO:0100353 rdfs:label "HHV-7 infectious disease" http://identifiers.org/hgnc/4679 rdfs:label "GUCA1B" @@ -14668,9 +14677,9 @@ MONDO:0010912 rdfs:label "fibrosis of extraocular muscles, congenital, 3A, with MONDO:0020092 rdfs:label "obsolete rare idiopathic male infertility" CL:2000051 rdfs:label "splenic fibroblast" MONDO:0017319 rdfs:label "hereditary elliptocytosis" +UBERON:0007997 rdfs:label "sesamoid bone of manus" MONDO:0015045 rdfs:label "alpha-heavy chain disease" NCBITaxon:92251 rdfs:label "Trombiculidae" -UBERON:0007997 rdfs:label "sesamoid bone of manus" MONDO:0001951 rdfs:label "Norwegian scabies" MONDO:0005050 rdfs:label "invasive ductal and lobular carcinoma" http://identifiers.org/hgnc/24338 rdfs:label "C1GALT1C1" @@ -14785,11 +14794,11 @@ MONDO:0004273 rdfs:label "breast apocrine adenoma" UBERON:0000457 rdfs:label "cavernous artery" NCBITaxon:1903411 rdfs:label "Yersiniaceae" UBERON:0034770 rdfs:label "bulbourethral gland epithelium" +UBERON:0004199 rdfs:label "S-shaped body" +UBERON:0003571 rdfs:label "trachea connective tissue" MONDO:0043079 rdfs:label "acute articular rheumatism" GO:0016835 rdfs:label "carbon-oxygen lyase activity" GO:0031667 rdfs:label "response to nutrient levels" -UBERON:0004199 rdfs:label "S-shaped body" -UBERON:0003571 rdfs:label "trachea connective tissue" GO:0060766 rdfs:label "negative regulation of androgen receptor signaling pathway" UBERON:0001633 rdfs:label "basilar artery" MONDO:0011258 rdfs:label "branchiootic syndrome 1" @@ -14999,8 +15008,8 @@ MONDO:0010592 rdfs:label "focal dermal hypoplasia" MONDO:0024554 rdfs:label "D-2-hydroxyglutaric aciduria 1" MONDO:0006986 rdfs:label "substernal goiter" UBERON:0004260 rdfs:label "upper arm blood vessel" -MONDO:0100019 rdfs:label "ECHS1-related paroxysmal dyskinesia" MONDO:0012621 rdfs:label "deafness-infertility syndrome" +MONDO:0100019 rdfs:label "ECHS1-related paroxysmal dyskinesia" MONDO:0007932 rdfs:label "age related macular degeneration 2" MONDO:0032925 rdfs:label "respiratory papillomatosis, juvenile recurrent, congenital" http://identifiers.org/hgnc/29256 rdfs:label "SOBP" @@ -15161,12 +15170,12 @@ http://identifiers.org/hgnc/1968 rdfs:label "LYST" MONDO:0014605 rdfs:label "microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome" MONDO:0021080 rdfs:label "blood vessel neoplasm" HP:0000982 rdfs:label "Palmoplantar keratoderma" +MONDO:0002950 rdfs:label "skin clear cell basal cell carcinoma" UBERON:0003541 rdfs:label "left lung terminal bronchiole" MONDO:0032635 rdfs:label "mitochondrial complex 1 deficiency, nuclear type 32" -MONDO:0002950 rdfs:label "skin clear cell basal cell carcinoma" +ECTO:9001751 rdfs:label "exposure to antiprotozoal drug" GO:1903726 rdfs:label "negative regulation of phospholipid metabolic process" MONDO:0004111 rdfs:label "refractory hematologic cancer" -ECTO:9001751 rdfs:label "exposure to antiprotozoal drug" MONDO:0001492 rdfs:label "kyphoscoliotic heart disease" MONDO:0006978 rdfs:label "splenic infarction" CHEBI:35366 rdfs:label "fatty acid" @@ -15281,9 +15290,9 @@ CL:0000158 rdfs:label "club cell" MONDO:0021542 rdfs:label "hemangioma of choroid" MONDO:0016853 rdfs:label "ring chromosome Y" http://identifiers.org/hgnc/18884 rdfs:label "TDP1" -MONDO:0007139 rdfs:label "Antipyrine metabolism" -UBERON:0004331 rdfs:label "proximal phalanx of manual digit 5" +MONDO:0007139 rdfs:label "obsolete Antipyrine metabolism" MONDO:0019225 rdfs:label "gluconeogenesis disorder" +UBERON:0004331 rdfs:label "proximal phalanx of manual digit 5" GO:0001763 rdfs:label "morphogenesis of a branching structure" FOODON:03302116 rdfs:label "cow milk (liquid)"@en MONDO:0012780 rdfs:label "celiac disease, susceptibility to, 11" @@ -15294,9 +15303,9 @@ MONDO:0019433 rdfs:label "oligoarticular juvenile idiopathic arthritis" http://identifiers.org/hgnc/28423 rdfs:label "STAC3" UBERON:0004787 rdfs:label "urethra urothelium" MONDO:0004274 rdfs:label "mixed epithelial/mesenchymal metaplastic breast carcinoma" -UBERON:0005733 rdfs:label "limb field" MONDO:0018236 rdfs:label "obsolete dysostosis with limb and face anomalies as a major feature" http://identifiers.org/hgnc/5037 rdfs:label "HNRNPDL" +UBERON:0005733 rdfs:label "limb field" MONDO:0016924 rdfs:label "partial duplication of chromosome 4" http://identifiers.org/hgnc/6595 rdfs:label "LHX3" MONDO:0005357 rdfs:label "Creutzfeldt Jacob disease" @@ -15336,8 +15345,8 @@ MONDO:0008920 rdfs:label "carnitine deficiency, myopathic" CL:0011012 rdfs:label "neural crest cell" HP:0000750 rdfs:label "Delayed speech and language development" MONDO:0002347 rdfs:label "barbiturate dependence" -NCBITaxon:2683629 rdfs:label "Opalozoa" MONDO:0000186 rdfs:label "obsolete spondyloepimetaphyseal dysplasia with joint laxity" +NCBITaxon:2683629 rdfs:label "Opalozoa" MONDO:0006089 rdfs:label "appendix goblet cell carcinoid" UBERON:0002803 rdfs:label "right parietal lobe" MONDO:0012428 rdfs:label "kyphoscoliosis 1" @@ -15384,8 +15393,8 @@ MONDO:0002755 rdfs:label "solitary osseous plasmacytoma" http://identifiers.org/hgnc/29092 rdfs:label "OBSL1" MONDO:0010939 rdfs:label "low phospholipid associated cholelithiasis" CL:0000765 rdfs:label "erythroblast" -http://identifiers.org/hgnc/2210 rdfs:label "COL5A2" MONDO:0033561 rdfs:label "deeah syndrome" +http://identifiers.org/hgnc/2210 rdfs:label "COL5A2" UBERON:0001908 rdfs:label "optic tract" MONDO:0019668 rdfs:label "adenoma of pancreas" MONDO:0000858 rdfs:label "neuronal intestinal dysplasia" @@ -15402,9 +15411,9 @@ http://identifiers.org/hgnc/21086 rdfs:label "MIB1" MONDO:0044092 rdfs:label "collagenous sprue" MONDO:0100215 rdfs:label "Rajab interstitial lung disease with brain calcifications 1" UBERON:0011960 rdfs:label "articular capsule of glenohumeral joint" -MONDO:0023682 rdfs:label "tympanic paraganglioma" MONDO:0001063 rdfs:label "cardia cancer" MONDO:0017459 rdfs:label "obsolete central polydactyly of toes" +MONDO:0023682 rdfs:label "tympanic paraganglioma" PO:0009009 rdfs:label "plant embryo" MONDO:0015298 rdfs:label "pellucid marginal degeneration" MONDO:0019889 rdfs:label "distal trisomy 22q" @@ -15494,10 +15503,10 @@ NCBITaxon:29185 rdfs:label "Rotaliida" UBERON:0015041 rdfs:label "pedal digit 5 metatarsal endochondral element" MONDO:0006297 rdfs:label "maxillary sinus adenoid cystic carcinoma" MONDO:0002053 rdfs:label "obsolete hypoglycemic coma" -UBERON:0005020 rdfs:label "mucosa of tongue" -UBERON:0003657 rdfs:label "limb joint" UBERON:0001204 rdfs:label "mucosa of small intestine" +UBERON:0005020 rdfs:label "mucosa of tongue" MONDO:0008115 rdfs:label "Feingold syndrome type 1" +UBERON:0003657 rdfs:label "limb joint" MONDO:0018792 rdfs:label "obsolete Moyamoya syndrome" MONDO:0009673 rdfs:label "spinal muscular atrophy, type II" GO:0090274 rdfs:label "positive regulation of somatostatin secretion" @@ -15511,8 +15520,8 @@ MONDO:0012364 rdfs:label "dilated cardiomyopathy 1Q" NCBITaxon:1224679 rdfs:label "Diphyllobothriidea" http://identifiers.org/hgnc/14561 rdfs:label "ARHGEF9" CHEBI:24833 rdfs:label "oxoacid" -MONDO:0043653 rdfs:label "herpes labialis" PATO:0001863 rdfs:label "chronic" +MONDO:0043653 rdfs:label "herpes labialis" NCBITaxon:169495 rdfs:label "This" MONDO:0024555 rdfs:label "megalencephalic leukoencephalopathy with subcortical cysts 1" MONDO:0003494 rdfs:label "ovarian squamous cell carcinoma" @@ -15568,13 +15577,13 @@ http://identifiers.org/hgnc/12786 rdfs:label "WNT7A" MONDO:0016392 rdfs:label "cerebellar hypoplasia-tapetoretinal degeneration syndrome" MONDO:0014801 rdfs:label "even-plus syndrome" MONDO:0021386 rdfs:label "neoplasm of mediastinum" -http://identifiers.org/hgnc/11571 rdfs:label "TARDBP" MONDO:0004816 rdfs:label "refractory plasma cell neoplasm" +http://identifiers.org/hgnc/11571 rdfs:label "TARDBP" http://identifiers.org/hgnc/11909 rdfs:label "TNFRSF11B" MONDO:0014113 rdfs:label "cardiofaciocutaneous syndrome 3" http://identifiers.org/hgnc/3771 rdfs:label "FMO3" MONDO:0003086 rdfs:label "thymic mucoepidermoid carcinoma" -MONDO:0007591 rdfs:label "facial hypertrichosis" +MONDO:0007591 rdfs:label "obsolete facial hypertrichosis" MONDO:0004417 rdfs:label "nested variant infiltrating bladder urothelial carcinoma" MONDO:0023084 rdfs:label "epiphyseal dysplasia dysmorphism camptodactyly" MONDO:0005349 rdfs:label "otosclerosis" @@ -15595,9 +15604,9 @@ MONDO:0032790 rdfs:label "neurodevelopmental disorder with coarse facies and mil MONDO:0024264 rdfs:label "hypothyroidism, congenital, nongoitrous, 2" MONDO:0013354 rdfs:label "spastic ataxia 4" GO:1900371 rdfs:label "regulation of purine nucleotide biosynthetic process" +MONDO:0003273 rdfs:label "sternum cancer" MONDO:0005021 rdfs:label "dilated cardiomyopathy" MONDO:0000050 rdfs:label "isolated congenital growth hormone deficiency" -MONDO:0003273 rdfs:label "sternum cancer" MONDO:0008538 rdfs:label "temporal arteritis" MONDO:0004604 rdfs:label "Hodgkin's lymphoma, lymphocytic-histiocytic predominance" MONDO:0001961 rdfs:label "obsolete glossopharyngeal neuralgia" @@ -15605,15 +15614,15 @@ MONDO:0007864 rdfs:label "angioosteohypertrophic syndrome" http://identifiers.org/hgnc/4281 rdfs:label "GJA8" MONDO:0012060 rdfs:label "autosomal recessive nonsyndromic hearing loss 35" MONDO:0001806 rdfs:label "vaginal squamous tumor" -MONDO:0032634 rdfs:label "mitochondrial complex 1 deficiency, nuclear type 31" http://identifiers.org/hgnc/6413 rdfs:label "KRT10" +MONDO:0032634 rdfs:label "mitochondrial complex 1 deficiency, nuclear type 31" MONDO:0021804 rdfs:label "silicotuberculosis" MONDO:0015337 rdfs:label "isolated craniosynostosis" MONDO:0033821 rdfs:label "fungal keratitis" MONDO:0016411 rdfs:label "hypothyroidism due to deficient transcription factors involved in pituitary development or function" UBERON:0001206 rdfs:label "serosa of small intestine" -MONDO:0019592 rdfs:label "obsolete disorder of sex development" MONDO:0019928 rdfs:label "48,XXXY syndrome" +MONDO:0019592 rdfs:label "obsolete disorder of sex development" MONDO:0010185 rdfs:label "methylmalonic aciduria and homocystinuria type cblD" MONDO:0020250 rdfs:label "autosomal dominant optic atrophy" MONDO:0010014 rdfs:label "craniometadiaphyseal dysplasia, wormian bone type" @@ -15648,8 +15657,8 @@ MONDO:0005191 rdfs:label "metastatic melanoma" UBERON:0002810 rdfs:label "right frontal lobe" MONDO:0012435 rdfs:label "3-methylglutaconic aciduria type 5" MONDO:0018597 rdfs:label "plastic bronchitis" -http://identifiers.org/hgnc/12565 rdfs:label "UNC119" UBERON:0015019 rdfs:label "rib endochondral element" +http://identifiers.org/hgnc/12565 rdfs:label "UNC119" MONDO:0000178 rdfs:label "obsolete breasts and/or nipples, aplasia or hypoplasia of" MONDO:0008391 rdfs:label "Robinow-Sorauf syndrome" MONDO:0017382 rdfs:label "familial clubfoot due to 5q31 microdeletion" @@ -15689,9 +15698,9 @@ http://identifiers.org/hgnc/30832 rdfs:label "TRAPPC9" CHEBI:144644 rdfs:label "a tetracycline zwittterion" CHEBI:33552 rdfs:label "sulfonic acid derivative" MONDO:0015268 rdfs:label "medullary sponge kidney" -MONDO:0030449 rdfs:label "deafness, autosomal recessive 118, with cochlear aplasia" -MONDO:0016214 rdfs:label "pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome" MONDO:0017468 rdfs:label "congenital shoulder dislocation" +MONDO:0016214 rdfs:label "pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome" +MONDO:0030449 rdfs:label "deafness, autosomal recessive 118, with cochlear aplasia" http://identifiers.org/hgnc/6383 rdfs:label "KNG1" MONDO:0036781 rdfs:label "benign axillary neoplasm" MONDO:0019371 rdfs:label "narcolepsy without cataplexy" @@ -15728,8 +15737,8 @@ MONDO:0600005 rdfs:label "venom allergy" NCIT:C45981 rdfs:label "Presence of a Hormonal Syndrome" MONDO:0030878 rdfs:label "Kaya-Barakat-Masson syndrome" MONDO:0001094 rdfs:label "residual stage of open angle glaucoma" -http://identifiers.org/hgnc/3341 rdfs:label "EMX2" CHEBI:83813 rdfs:label "proteinogenic amino acid" +http://identifiers.org/hgnc/3341 rdfs:label "EMX2" MONDO:0005685 rdfs:label "obsolete bullous pemphigoid" MONDO:0020111 rdfs:label "obsolete constitutional megaloblastic anemia due to folate metabolism disorder" UBERON:0010186 rdfs:label "male urethral gland" @@ -15737,9 +15746,9 @@ UBERON:0011132 rdfs:label "intercarpal joint" UBERON:0004983 rdfs:label "mucosa of vagina" NCBITaxon:186627 rdfs:label "Cypriniphysae" UBERON:0001760 rdfs:label "frontal sinus" +MONDO:0044795 rdfs:label "epithelioid cell nevus" MONDO:0043237 rdfs:label "glossodynia" MONDO:0004470 rdfs:label "obsolete osteochondrosis" -MONDO:0044795 rdfs:label "epithelioid cell nevus" MONDO:0004808 rdfs:label "benign mammary dysplasia" MONDO:0029000 rdfs:label "poisoning" GO:0003012 rdfs:label "muscle system process" @@ -15891,8 +15900,8 @@ MONDO:0020094 rdfs:label "obsolete autosomal dominant disease with diffuse palmo UBERON:0006136 rdfs:label "unmyelinated nerve fiber" UBERON:0001791 rdfs:label "inner nuclear layer of retina" NCBITaxon:11077 rdfs:label "Kunjin virus" -CL:2000053 rdfs:label "splenic endothelial cell" MONDO:0009808 rdfs:label "osteoid osteoma" +CL:2000053 rdfs:label "splenic endothelial cell" MONDO:0010248 rdfs:label "X-linked spondyloepimetaphyseal dysplasia" NCIT:C68749 rdfs:label "HER2/Neu Negative" MONDO:0003125 rdfs:label "testicular sex cord-stromal neoplasm" @@ -15925,11 +15934,11 @@ ECTO:0000980 rdfs:label "exposure to temperature of air in surroundings" MONDO:0007903 rdfs:label "Li-Fraumeni syndrome 1" UBERON:0034878 rdfs:label "prechordal mesoderm" UBERON:0005040 rdfs:label "mucosa of terminal bronchiole" -UBERON:0007303 rdfs:label "pharyngeal vasculature" MONDO:0017187 rdfs:label "diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency" +UBERON:0007303 rdfs:label "pharyngeal vasculature" MONDO:0015875 rdfs:label "obsolete rare non-malformative uterine adnexal disease" -http://identifiers.org/hgnc/6188 rdfs:label "JAG1" ENVO:01001052 rdfs:label "aerosol environment"@en +http://identifiers.org/hgnc/6188 rdfs:label "JAG1" MONDO:0017844 rdfs:label "Sezary syndrome" MONDO:0004965 rdfs:label "acinar cell carcinoma" MONDO:0019005 rdfs:label "nephronophthisis" @@ -16043,10 +16052,10 @@ MONDO:0020598 rdfs:label "malabsorption syndrome" MONDO:0000577 rdfs:label "congenital anemia" GO:0045260 rdfs:label "plasma membrane proton-transporting ATP synthase complex" MONDO:0003976 rdfs:label "malignant type AB thymoma" -UBERON:0015042 rdfs:label "manual digit metacarpus endochondral element" MONDO:0043771 rdfs:label "radiodermatitis" http://identifiers.org/hgnc/9060 rdfs:label "PLCD1" MONDO:0003117 rdfs:label "somatoform disorder" +UBERON:0015042 rdfs:label "manual digit metacarpus endochondral element" GO:0004000 rdfs:label "adenosine deaminase activity" GO:0044325 rdfs:label "transmembrane transporter binding" UBERON:1000024 rdfs:label "parenchyma of spleen" @@ -16057,8 +16066,8 @@ CL:0000766 rdfs:label "myeloid leukocyte" MONDO:0005547 rdfs:label "obsolete desmoplastic medulloblastoma" UBERON:0001205 rdfs:label "submucosa of small intestine" MONDO:0007747 rdfs:label "isolated hyperchlorhidrosis" -UBERON:0005021 rdfs:label "mucosa of sphenoidal sinus" MONDO:0008116 rdfs:label "oculopharyngeal muscular dystrophy" +UBERON:0005021 rdfs:label "mucosa of sphenoidal sinus" MONDO:0018793 rdfs:label "primary condylar hyperplasia" MONDO:0009674 rdfs:label "muscular dystrophy, adult-onset, with leukoencephalopathy" MONDO:0005430 rdfs:label "early onset hypertension" @@ -16113,8 +16122,8 @@ MONDO:0000429 rdfs:label "autosomal genetic disease" http://identifiers.org/hgnc/17288 rdfs:label "APOA5" http://identifiers.org/hgnc/23537 rdfs:label "DHTKD1" MONDO:0012844 rdfs:label "primary ciliary dyskinesia 8" -MONDO:0100082 rdfs:label "LEOPARD syndrome 1" MONDO:0024265 rdfs:label "Duane syndrome type 1" +MONDO:0100082 rdfs:label "LEOPARD syndrome 1" UBERON:0016502 rdfs:label "stomach fundus lumen" http://identifiers.org/hgnc/11604 rdfs:label "TBX5" GO:1900372 rdfs:label "negative regulation of purine nucleotide biosynthetic process" @@ -16281,8 +16290,8 @@ GO:0071825 rdfs:label "protein-lipid complex subunit organization" MONDO:0013355 rdfs:label "congenital dyserythropoietic anemia type 4" ECTO:0000637 rdfs:label "exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor" MONDO:0014492 rdfs:label "woolly hair-palmoplantar keratoderma syndrome" -GO:2000348 rdfs:label "regulation of CD40 signaling pathway" http://identifiers.org/hgnc/8133 rdfs:label "OLR1" +GO:2000348 rdfs:label "regulation of CD40 signaling pathway" MONDO:0000029 rdfs:label "obsolete corticosterone methyloxidase deficiency" MONDO:0001103 rdfs:label "giardiasis" UBERON:0003890 rdfs:label "Mullerian duct" @@ -16316,9 +16325,9 @@ HP:0002072 rdfs:label "Chorea" MONDO:0000909 rdfs:label "Bartter disease type 4B" UBERON:0000993 rdfs:label "oviduct" MONDO:0019795 rdfs:label "acalvaria" +MONDO:0031481 rdfs:label "microcephaly, epilepsy, and diabetes syndrome 1" CHR:9606-chr20q11 rdfs:label "20q11 (Human)" MONDO:0008242 rdfs:label "photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" -MONDO:0031481 rdfs:label "microcephaly, epilepsy, and diabetes syndrome 1" ENVO:01000280 rdfs:label "ecozone" GO:0006936 rdfs:label "muscle contraction" MONDO:0700070 rdfs:label "myopathy caused by variation in POMT1" @@ -16333,8 +16342,8 @@ MONDO:0014084 rdfs:label "ataxia with oculomotor apraxia type 3" MONDO:0020333 rdfs:label "aggressive systemic mastocytosis" MONDO:0010444 rdfs:label "X-linked dyserythropoetic anemia with abnormal platelets and neutropenia" CL:0002087 rdfs:label "nongranular leukocyte" -UBERON:0035550 rdfs:label "superficial vein" HP:0000290 rdfs:label "Abnormality of the forehead" +UBERON:0035550 rdfs:label "superficial vein" UBERON:0001918 rdfs:label "endothelium of venule" NCBITaxon:32003 rdfs:label "Nitrosomonadales" MONDO:0019982 rdfs:label "bilateral multicystic dysplastic kidney" @@ -16370,9 +16379,9 @@ MONDO:0016215 rdfs:label "spastic quadriplegic cerebral palsy" MONDO:0008650 rdfs:label "posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome" MONDO:0013205 rdfs:label "corneal dystrophy, fuchs endothelial, 5" http://identifiers.org/hgnc/11019 rdfs:label "SLC34A1" -MONDO:0045050 rdfs:label "nuclear cataract" MONDO:0032887 rdfs:label "neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity" MONDO:0015477 rdfs:label "pinnae fistula or cyst" +MONDO:0045050 rdfs:label "nuclear cataract" UBERON:0013585 rdfs:label "metapodium bone 5" UBERON:0010846 rdfs:label "radius pre-cartilage condensation" UBERON:0013761 rdfs:label "cervical cavity" @@ -16391,9 +16400,9 @@ MONDO:0017656 rdfs:label "motor stereotypies" MONDO:0100052 rdfs:label "acetazolamide-responsive hereditary episodic ataxia" MONDO:0016198 rdfs:label "qualitative or quantitative defects of plectin" UBERON:0001622 rdfs:label "lacrimal artery" +MONDO:0019227 rdfs:label "inborn disorder of glycerol metabolism" MONDO:0001494 rdfs:label "obsolete transvestism" GO:0042398 rdfs:label "cellular modified amino acid biosynthetic process" -MONDO:0019227 rdfs:label "inborn disorder of glycerol metabolism" http://identifiers.org/hgnc/13406 rdfs:label "PCLO" MONDO:0002440 rdfs:label "erythropoietin polycythemia" NCBITaxon:776 rdfs:label "Coxiella " @@ -16671,10 +16680,10 @@ MONDO:0021388 rdfs:label "neoplasm of chest wall" http://identifiers.org/hgnc/11573 rdfs:label "TAT" MONDO:0004818 rdfs:label "obsolete benign neurilemmoma" http://identifiers.org/hgnc/4419 rdfs:label "GNRH1" -MONDO:0007593 rdfs:label "facial spasm" GO:0017168 rdfs:label "5-oxoprolinase (ATP-hydrolyzing) activity" MONDO:0002460 rdfs:label "lacrimal system cancer" MONDO:0001690 rdfs:label "parasitic conjunctivitis" +MONDO:0007593 rdfs:label "facial spasm" MONDO:0004419 rdfs:label "lymphoma-like variant infiltrating bladder urothelial carcinoma" MONDO:0005977 rdfs:label "tabes dorsalis" GO:0045931 rdfs:label "positive regulation of mitotic cell cycle" @@ -16763,8 +16772,8 @@ MONDO:0014618 rdfs:label "retinitis pigmentosa 71" MONDO:0004693 rdfs:label "squamous carcinoma in situ" MONDO:0024557 rdfs:label "ataxia-telangiectasia-like disorder 1" MONDO:0003496 rdfs:label "obsolete endometrial squamous cell carcinoma" -UBERON:0003064 rdfs:label "intermediate mesoderm" HP:0002103 rdfs:label "Abnormal pleura morphology" +UBERON:0003064 rdfs:label "intermediate mesoderm" http://identifiers.org/hgnc/17068 rdfs:label "PALLD" MONDO:0000930 rdfs:label "nodular malignant melanoma" MONDO:0012624 rdfs:label "acyl-CoA dehydrogenase 9 deficiency" @@ -16796,8 +16805,8 @@ MONDO:0010666 rdfs:label "obsolete Miles-Carpenter syndrome" UBERON:0007500 rdfs:label "epithelial tube open at both ends" UBERON:0010365 rdfs:label "odontoid tissue" MONDO:0044237 rdfs:label "obsolete hypercholesterolemia suppressor" -GO:1903564 rdfs:label "regulation of protein localization to cilium" MONDO:0019373 rdfs:label "desmoplastic small round cell tumor" +GO:1903564 rdfs:label "regulation of protein localization to cilium" NCBITaxon:44556 rdfs:label "Phlebotomus " MONDO:0025139 rdfs:label "white muscle disease" CL:0000169 rdfs:label "type B pancreatic cell" @@ -16816,18 +16825,18 @@ GO:0010623 rdfs:label "programmed cell death involved in cell development" MONDO:0014493 rdfs:label "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency" GO:0098588 rdfs:label "bounding membrane of organelle" UBERON:0004692 rdfs:label "external naris epithelium" -GO:2000349 rdfs:label "negative regulation of CD40 signaling pathway" GO:1905951 rdfs:label "mitochondrion DNA recombination" +GO:2000349 rdfs:label "negative regulation of CD40 signaling pathway" MONDO:0024431 rdfs:label "bilirubin metabolism disease" UBERON:0003891 rdfs:label "stroma" -GO:0140603 rdfs:label "obsolete ATP hydrolysis activity" UBERON:0003544 rdfs:label "brain white matter" +GO:0140603 rdfs:label "obsolete ATP hydrolysis activity" MONDO:0004285 rdfs:label "pancreatic intraductal papillary-mucinous carcinoma" MONDO:0013169 rdfs:label "chromosome 5p13 duplication syndrome" GO:1904782 rdfs:label "negative regulation of NMDA glutamate receptor activity" MONDO:0008790 rdfs:label "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism" -UBERON:0002521 rdfs:label "elastic tissue" UBERON:0005744 rdfs:label "bone foramen" +UBERON:0002521 rdfs:label "elastic tissue" GO:1903729 rdfs:label "regulation of plasma membrane organization" MONDO:0014115 rdfs:label "hypomyelination with brain stem and spinal cord involvement and leg spasticity" MONDO:0004114 rdfs:label "urinary bladder small cell neuroendocrine carcinoma" @@ -16854,8 +16863,8 @@ MONDO:0007820 rdfs:label "fused mandibular incisors" UBERON:0011134 rdfs:label "nonsynovial joint" UBERON:0004985 rdfs:label "mucosa of ejaculatory duct" MONDO:0013356 rdfs:label "vesicoureteral reflux 3" -GO:0006508 rdfs:label "proteolysis" MONDO:0001963 rdfs:label "obsolete cerebral degeneration disease" +GO:0006508 rdfs:label "proteolysis" MONDO:0007866 rdfs:label "Bart-Pumphrey syndrome" http://identifiers.org/hgnc/11599 rdfs:label "TBX21" UBERON:0004711 rdfs:label "jugular vein" @@ -17002,8 +17011,8 @@ HP:0002617 rdfs:label "Vascular dilatation" MONDO:0020096 rdfs:label "autosomal recessive isolated diffuse palmoplantar keratoderma" http://identifiers.org/hgnc/8806 rdfs:label "PDHA1" FOODON:03309823 rdfs:label "shrimp paste"@en -GO:0000278 rdfs:label "mitotic cell cycle" MONDO:0019657 rdfs:label "obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes" +GO:0000278 rdfs:label "mitotic cell cycle" CL:2000055 rdfs:label "liver dendritic cell" MONDO:0012492 rdfs:label "restless legs syndrome, susceptibility to, 3" HP:0003366 rdfs:label "Abnormal femoral neck/head morphology" @@ -17116,10 +17125,10 @@ MONDO:0400002 rdfs:label "calcium-alkali syndrome" GO:0051446 rdfs:label "positive regulation of meiotic cell cycle" http://identifiers.org/hgnc/2770 rdfs:label "DES" CL:0000894 rdfs:label "DN1 thymic pro-T cell" +NCBITaxon:12091 rdfs:label "Hepatovirus" HP:0008056 rdfs:label "Aplasia/Hypoplasia affecting the eye" MONDO:0017531 rdfs:label "postaxial polydactyly type A, unilateral" http://identifiers.org/hgnc/8808 rdfs:label "PDHB" -NCBITaxon:12091 rdfs:label "Hepatovirus" GO:0097690 rdfs:label "iron ion transmembrane transporter inhibitor activity" MONDO:0006621 rdfs:label "vulvar inverted follicular keratosis" PATO:0001759 rdfs:label "granular" @@ -17180,8 +17189,8 @@ MONDO:0004511 rdfs:label "lower clivus meningioma" MONDO:0022953 rdfs:label "delta-1-pyrroline-5-carboxylate dehydrogenase deficiency" MONDO:0001521 rdfs:label "intermittent explosive disorder" MONDO:0007424 rdfs:label "autosomal dominant nonsyndromic hearing loss 1" -GO:0042753 rdfs:label "positive regulation of circadian rhythm" MONDO:0014077 rdfs:label "cobblestone lissencephaly without muscular or ocular involvement" +GO:0042753 rdfs:label "positive regulation of circadian rhythm" GO:1902668 rdfs:label "negative regulation of axon guidance" http://identifiers.org/hgnc/25455 rdfs:label "TSR2" GO:0009167 rdfs:label "purine ribonucleoside monophosphate metabolic process" @@ -17250,9 +17259,9 @@ MONDO:0004819 rdfs:label "indolent plasma cell myeloma" CHEBI:33229 rdfs:label "vitamin" MONDO:0013755 rdfs:label "PYCR1-related de Barsy syndrome" UBERON:0006569 rdfs:label "diencephalic nucleus" +MONDO:0021514 rdfs:label "benign neoplasm of pericardium" MONDO:0015175 rdfs:label "autoimmune pancreatitis" MONDO:0018398 rdfs:label "obsolete female infertility due to a congenital hypogonadotropic hypogonadism" -MONDO:0021514 rdfs:label "benign neoplasm of pericardium" GO:0045932 rdfs:label "negative regulation of muscle contraction" GO:0008219 rdfs:label "cell death" MONDO:0016121 rdfs:label "congenital myotonia" @@ -17276,8 +17285,8 @@ MONDO:0019259 rdfs:label "classic phenylketonuria" MONDO:0037743 rdfs:label "mediastinal soft tissue cancer" UBERON:0006756 rdfs:label "median lingual swelling" MONDO:0000358 rdfs:label "orofacial cleft" -ENVO:01001501 rdfs:label "radiation from a manufactured product"@en UBERON:0000073 rdfs:label "regional part of nervous system" +ENVO:01001501 rdfs:label "radiation from a manufactured product"@en MONDO:0017562 rdfs:label "congenital patella dislocation, unilateral" MONDO:0017215 rdfs:label "calciphylaxis" http://identifiers.org/hgnc/11795 rdfs:label "THPO" @@ -17318,10 +17327,10 @@ http://identifiers.org/hgnc/6637 rdfs:label "LMNB1" GO:0015986 rdfs:label "ATP synthesis coupled proton transport" MONDO:0011407 rdfs:label "facial paresis, hereditary congenital, 2" MONDO:0003119 rdfs:label "obsolete histiocytoid hemangioma" +MONDO:0020474 rdfs:label "cheirospondyloenchondromatosis" +MONDO:0009195 rdfs:label "erythema of acral regions" MONDO:0013607 rdfs:label "monocytopenia with susceptibility to infections" MONDO:0016811 rdfs:label "renal tubulopathy-encephalopathy-liver failure syndrome" -MONDO:0009195 rdfs:label "erythema of acral regions" -MONDO:0020474 rdfs:label "cheirospondyloenchondromatosis" http://identifiers.org/hgnc/166 rdfs:label "ACTN4" MONDO:0019992 rdfs:label "pseudohypoparathyroidism" HP:0012719 rdfs:label "Functional abnormality of the gastrointestinal tract" @@ -17336,8 +17345,8 @@ MONDO:0006686 rdfs:label "brain stem infarction" GO:0050666 rdfs:label "regulation of homocysteine metabolic process" MONDO:0005432 rdfs:label "alcohol and nicotine codependence" MONDO:0007632 rdfs:label "obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1)" -NCBITaxon:6252 rdfs:label "Ascaris lumbricoides" MONDO:0044238 rdfs:label "obsolete lunulae of fingernails" +NCBITaxon:6252 rdfs:label "Ascaris lumbricoides" MONDO:0007197 rdfs:label "bladder diverticulum" NCIT:C36285 rdfs:label "Endocrine System Finding" MONDO:0005757 rdfs:label "eumycotic mycetoma" @@ -17366,7 +17375,7 @@ MONDO:0006361 rdfs:label "penile fibromatosis" MONDO:0018209 rdfs:label "Alexander disease type I" GO:0015399 rdfs:label "primary active transmembrane transporter activity" MONDO:0009561 rdfs:label "alpha-mannosidosis" -MONDO:0008791 rdfs:label "isolated anencephaly/exencephaly" +MONDO:0008791 rdfs:label "anencephaly 1" GO:0071944 rdfs:label "cell periphery" MONDO:0014116 rdfs:label "complex cortical dysplasia with other brain malformations 2" NCBITaxon:9903 rdfs:label "Bos" @@ -17706,7 +17715,7 @@ UBERON:0004251 rdfs:label "hindlimb zeugopod bone" GO:0006633 rdfs:label "fatty acid biosynthetic process" MONDO:0012680 rdfs:label "nephronophthisis 7" MONDO:0015668 rdfs:label "hereditary dentin defect" -MONDO:0060593 rdfs:label "actn3 deficiency" +MONDO:0060593 rdfs:label "obsolete actn3 deficiency" MONDO:0014533 rdfs:label "developmental and epileptic encephalopathy, 28" GO:0009168 rdfs:label "purine ribonucleoside monophosphate biosynthetic process" MONDO:0007908 rdfs:label "multiple symmetric lipomatosis" @@ -17732,8 +17741,8 @@ UBERON:0006568 rdfs:label "hypothalamic nucleus" MONDO:0010110 rdfs:label "tetraamelia-multiple malformations syndrome" http://identifiers.org/hgnc/8860 rdfs:label "PEX7" MONDO:0020765 rdfs:label "neuropathy, congenital hypomyelinating, 2" -MONDO:0012989 rdfs:label "microcephaly 7, primary, autosomal recessive" MONDO:0022778 rdfs:label "cleft lip palate intellectual disability corneal opacity" +MONDO:0012989 rdfs:label "microcephaly 7, primary, autosomal recessive" MONDO:0009469 rdfs:label "benign recurrent intrahepatic cholestasis type 1" MONDO:0004512 rdfs:label "meningeal melanomatosis" http://identifiers.org/hgnc/494 rdfs:label "ANK3" @@ -17832,8 +17841,8 @@ MONDO:0016122 rdfs:label "periodic paralysis" MONDO:0011859 rdfs:label "obsolete distal myopathy with early respiratory muscle involvement" MONDO:0002926 rdfs:label "clear cell sarcoma" http://identifiers.org/hgnc/16297 rdfs:label "UPB1" -http://identifiers.org/hgnc/2594 rdfs:label "CYP19A1" http://identifiers.org/hgnc/25928 rdfs:label "WDR73" +http://identifiers.org/hgnc/2594 rdfs:label "CYP19A1" NCBITaxon:2720871 rdfs:label "Aspergillus subgen. Circumdati" MONDO:0008236 rdfs:label "phlebectasia of lips" MONDO:0017355 rdfs:label "inborn disorder of proline metabolism" @@ -17942,8 +17951,8 @@ CL:0000568 rdfs:label "amine precursor uptake and decarboxylation cell" GO:1900424 rdfs:label "regulation of defense response to bacterium" CHEBI:38104 rdfs:label "oxacycle" NCBITaxon:6936 rdfs:label "Argasidae" -MONDO:0036511 rdfs:label "childhood malignant kidney neoplasm" MONDO:0013921 rdfs:label "herpes simplex encephalitis, susceptibility to, 4" +MONDO:0036511 rdfs:label "childhood malignant kidney neoplasm" MONDO:0032794 rdfs:label "leber congenital amaurosis 19" MONDO:0024268 rdfs:label "superficial mycosis" MONDO:0015037 rdfs:label "lissencephaly with cerebellar hypoplasia type D" @@ -18024,16 +18033,16 @@ MONDO:0019321 rdfs:label "atypical Werner syndrome" MONDO:0019407 rdfs:label "microcephalic osteodysplastic dysplasia, Saul-Wilson type" MONDO:0030323 rdfs:label "spinocerebellar ataxia, autosomal recessive 31" MONDO:0006186 rdfs:label "duodenal adenocarcinoma" +UBERON:0001074 rdfs:label "pericardial cavity" CHEBI:76807 rdfs:label "EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor" HP:0001367 rdfs:label "Abnormal joint morphology" -UBERON:0001074 rdfs:label "pericardial cavity" MONDO:0000112 rdfs:label "obsolete cardioencephalomyopathy, fatal infantile" MONDO:0006362 rdfs:label "peritoneal mesothelioma" MONDO:0006015 rdfs:label "Waterhouse-Friderichsen syndrome" MONDO:0003372 rdfs:label "vulvar leiomyosarcoma" MONDO:0022819 rdfs:label "congenital arteriovenous shunt" -MONDO:0012962 rdfs:label "microvascular complications of diabetes, susceptibility to, 2" MONDO:0004703 rdfs:label "bladder carcinoma in situ" +MONDO:0012962 rdfs:label "microvascular complications of diabetes, susceptibility to, 2" MONDO:0002955 rdfs:label "vulva basal cell carcinoma" MONDO:0013054 rdfs:label "microcephaly, growth retardation, cataract, hearing loss, and unusual appearance" MONDO:0014991 rdfs:label "Seckel syndrome 10" @@ -18074,18 +18083,18 @@ MONDO:0009140 rdfs:label "Silverman-Handmaker type dyssegmental dysplasia" GO:0098856 rdfs:label "intestinal lipid absorption" MONDO:0006876 rdfs:label "ocular tuberculosis" http://identifiers.org/hgnc/4428 rdfs:label "GOLGA5" -MONDO:0021260 rdfs:label "sensory ganglionopathy" UBERON:0005276 rdfs:label "dorsal skin of finger" -MONDO:0012511 rdfs:label "preterm premature rupture of the membranes" +MONDO:0021260 rdfs:label "sensory ganglionopathy" UBERON:0001764 rdfs:label "maxillary sinus" -MONDO:0007822 rdfs:label "incisors, long upper central" +MONDO:0012511 rdfs:label "preterm premature rupture of the membranes" +MONDO:0007822 rdfs:label "obsolete incisors, long upper central" UBERON:0004987 rdfs:label "mucosa of laryngopharynx" MONDO:0032815 rdfs:label "mitochondrial DNA depletion syndrome 17" GO:0003016 rdfs:label "respiratory system process" GO:0001704 rdfs:label "formation of primary germ layer" -NCBITaxon:50557 rdfs:label "Insecta" GO:1901293 rdfs:label "nucleoside phosphate biosynthetic process" MONDO:0015794 rdfs:label "antenatal multiminicore disease with arthrogryposis multiplex congenita" +NCBITaxon:50557 rdfs:label "Insecta" CHEBI:24471 rdfs:label "halogen molecular entity" http://identifiers.org/hgnc/10540 rdfs:label "SAT1" http://identifiers.org/hgnc/17213 rdfs:label "COLEC11" @@ -18142,10 +18151,10 @@ MONDO:0000589 rdfs:label "autoimmune disorder of musculoskeletal system" MONDO:0011029 rdfs:label "myeloid tumor suppressor" MONDO:0003151 rdfs:label "obsolete movement disease" MONDO:0012103 rdfs:label "spinocerebellar ataxia type 25" -UBERON:0004883 rdfs:label "lung mesenchyme" MONDO:0013661 rdfs:label "combined malonic and methylmalonic acidemia" -MONDO:0021533 rdfs:label "intestinal neuroendocrine tumor G1" +UBERON:0004883 rdfs:label "lung mesenchyme" CHEBI:35295 rdfs:label "homopolycyclic compound" +MONDO:0021533 rdfs:label "intestinal neuroendocrine tumor G1" MONDO:0005277 rdfs:label "migraine disorder" http://identifiers.org/hgnc/9380 rdfs:label "PRKACA" MONDO:0009868 rdfs:label "glycogen storage disease IXb" @@ -18240,7 +18249,7 @@ GO:0045272 rdfs:label "plasma membrane respiratory chain complex I" CHR:9606-chr9q rdfs:label "9q (Human)" HP:0002619 rdfs:label "Varicose veins" MONDO:0004326 rdfs:label "sphenoid sinus inverted papilloma" -MONDO:0033552 rdfs:label "blood group, lewis system" +MONDO:0033552 rdfs:label "obsolete blood group, lewis system" CHEBI:27314 rdfs:label "water-soluble vitamin" GO:0016054 rdfs:label "organic acid catabolic process" MONDO:0015372 rdfs:label "autosomal dominant macrothrombocytopenia" @@ -18273,13 +18282,13 @@ UBERON:0005044 rdfs:label "mucosa of pharyngotympanic tube" MONDO:0015879 rdfs:label "non-syndromic diaphragmatic or thoracic malformation" MONDO:0003652 rdfs:label "acute urate nephropathy" MONDO:0017050 rdfs:label "intraocular medulloepithelioma" -MONDO:0004171 rdfs:label "obsolete congenital epulis" UBERON:0005630 rdfs:label "fetal membrane" +MONDO:0004171 rdfs:label "obsolete congenital epulis" +UBERON:0001083 rdfs:label "myocardium of ventricle" MONDO:0007394 rdfs:label "obsolete craniodiaphyseal dysplasia" MONDO:0009014 rdfs:label "cornea plana 2" MONDO:0011417 rdfs:label "hemochromatosis type 3" MONDO:0008458 rdfs:label "spinocerebellar ataxia type 2" -UBERON:0001083 rdfs:label "myocardium of ventricle" MONDO:0006371 rdfs:label "obsolete pineocytoma" UBERON:0009917 rdfs:label "kidney corticomedullary boundary" MONDO:0018523 rdfs:label "pancreatic mucinous cystadenoma" @@ -18311,8 +18320,8 @@ BFO:0000031 rdfs:label "generically dependent continuant"@en http://identifiers.org/hgnc/28844 rdfs:label "FBXO38" http://identifiers.org/hgnc/753 rdfs:label "ASNS" MONDO:0010803 rdfs:label "Eiken syndrome" -GO:0001956 rdfs:label "positive regulation of neurotransmitter secretion" MONDO:0013250 rdfs:label "autosomal recessive nonsyndromic hearing loss 85" +GO:0001956 rdfs:label "positive regulation of neurotransmitter secretion" MONDO:0010709 rdfs:label "early-onset parkinsonism-intellectual disability syndrome" MONDO:0005316 rdfs:label "bacterial vaginosis" UBERON:0000304 rdfs:label "tendon sheath" @@ -18345,6 +18354,7 @@ GO:0002688 rdfs:label "regulation of leukocyte chemotaxis" HP:0020129 rdfs:label "Abnormal urine protein level" http://identifiers.org/hgnc/29331 rdfs:label "EPG5" MONDO:0032601 rdfs:label "inflammatory bowel disease, immunodeficiency, and encephalopathy" +MONDO:0700043 rdfs:label "syndrome caused by partial chromosomal duplication of the short arm of chromosome 9" NCBITaxon:482 rdfs:label "Neisseria" CL:0000076 rdfs:label "squamous epithelial cell" UBERON:0002073 rdfs:label "hair follicle" @@ -18357,8 +18367,8 @@ MONDO:0037745 rdfs:label "fibromyxoid tumor" MONDO:0015990 rdfs:label "focal, segmental or multifocal dystonia" UBERON:0013472 rdfs:label "upper esophagus" UBERON:0011366 rdfs:label "cleidobrachialis muscle" -http://identifiers.org/hgnc/17057 rdfs:label "CARD8" UBERON:0004252 rdfs:label "hindlimb stylopod muscle" +http://identifiers.org/hgnc/17057 rdfs:label "CARD8" UBERON:0000075 rdfs:label "subdivision of skeletal system" MONDO:0018115 rdfs:label "epidermal nevus syndrome" MONDO:0001302 rdfs:label "hypertensive heart disease" @@ -18452,8 +18462,8 @@ UBERON:0007010 rdfs:label "cleaving embryo" UBERON:0009196 rdfs:label "indifferent external genitalia" MONDO:0020241 rdfs:label "obsolete unclassified familial retinal dystrophy" MONDO:0010005 rdfs:label "saccharopinuria" -NCBITaxon:5125 rdfs:label "Hypocreales" NCBITaxon:6683 rdfs:label "Decapoda" +NCBITaxon:5125 rdfs:label "Hypocreales" http://identifiers.org/hgnc/11389 rdfs:label "STK11" HP:0011028 rdfs:label "Abnormality of blood circulation" CHEBI:50860 rdfs:label "organic molecular entity" @@ -18481,13 +18491,13 @@ UBERON:0004926 rdfs:label "submucosa of cystic duct" MONDO:0023089 rdfs:label "erythroplakia" MONDO:0015177 rdfs:label "metaphyseal anadysplasia" http://identifiers.org/hgnc/1362 rdfs:label "FRRS1L" -UBERON:0000112 rdfs:label "sexually immature stage" MONDO:0020710 rdfs:label "amnionitis" GO:0045934 rdfs:label "negative regulation of nucleobase-containing compound metabolic process" CHEBI:63551 rdfs:label "carbohydrate acid derivative anion" MONDO:0005182 rdfs:label "serous cystadenofibroma" MONDO:0016123 rdfs:label "muscular tumor" MONDO:0004893 rdfs:label "hypertropia" +UBERON:0000112 rdfs:label "sexually immature stage" MONDO:0022723 rdfs:label "chondrodysplasia" CL:0000569 rdfs:label "cardiac mesenchymal cell" GO:1900425 rdfs:label "negative regulation of defense response to bacterium" @@ -18520,8 +18530,8 @@ MONDO:0021809 rdfs:label "primary dysautonomia" http://identifiers.org/hgnc/1583 rdfs:label "CCND2" MONDO:0016416 rdfs:label "diphallia" MONDO:0017974 rdfs:label "46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors" -MONDO:0003509 rdfs:label "pineal region choriocarcinoma" UBERON:0000333 rdfs:label "intestinal gland" +MONDO:0003509 rdfs:label "pineal region choriocarcinoma" MONDO:0060659 rdfs:label "neurodevelopmental disorder with poor language and loss of hand skills" GO:0006775 rdfs:label "fat-soluble vitamin metabolic process" GO:0048519 rdfs:label "negative regulation of biological process" @@ -18552,8 +18562,8 @@ MONDO:0013609 rdfs:label "Meckel syndrome, type 10" MONDO:0016813 rdfs:label "obsolete microsporidiosis" MONDO:0009197 rdfs:label "transient erythroblastopenia of childhood" MONDO:0043007 rdfs:label "genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome" -MONDO:0020476 rdfs:label "mesial temporal lobe epilepsy with hippocampal sclerosis" MONDO:0004704 rdfs:label "obsolete peroxisomal disease" +MONDO:0020476 rdfs:label "mesial temporal lobe epilepsy with hippocampal sclerosis" GO:0001894 rdfs:label "tissue homeostasis" GO:1901137 rdfs:label "carbohydrate derivative biosynthetic process" GO:0050668 rdfs:label "positive regulation of homocysteine metabolic process" @@ -18642,13 +18652,13 @@ GO:0045778 rdfs:label "positive regulation of ossification" MONDO:0014504 rdfs:label "Perrault syndrome 5" GO:0046852 rdfs:label "positive regulation of bone remodeling" MONDO:0020339 rdfs:label "X-linked complex spastic paraplegia" -MONDO:0015678 rdfs:label "dysplasia of head of femur, Meyer type" MONDO:0009386 rdfs:label "hyperlexia" +MONDO:0015678 rdfs:label "dysplasia of head of femur, Meyer type" CL:0002507 rdfs:label "langerin-positive lymph node dendritic cell" CL:0000233 rdfs:label "platelet" MONDO:0006877 rdfs:label "oophoritis" MONDO:0002548 rdfs:label "cellular schwannoma" -MONDO:0007823 rdfs:label "insulin receptors, familial increase 1N" +MONDO:0007823 rdfs:label "obsolete insulin receptors, familial increase 1N" MONDO:0032816 rdfs:label "neurodevelopmental disorder with ataxia, hypotonia, and microcephaly" MONDO:0022546 rdfs:label "obsolete basal cell nevus anodontia abnormal bone mineralization" UBERON:0004190 rdfs:label "renal glomerulus vasculature" @@ -18763,7 +18773,7 @@ MONDO:0004885 rdfs:label "choroidal sclerosis" MONDO:0011774 rdfs:label "autosomal recessive nonsyndromic hearing loss 30" HP:0002683 rdfs:label "Abnormality of the calvaria" GO:0044058 rdfs:label "regulation of digestive system process" -MONDO:0007331 rdfs:label "cleft chin" +MONDO:0007331 rdfs:label "obsolete cleft chin" GO:0002279 rdfs:label "mast cell activation involved in immune response" GO:0003353 rdfs:label "positive regulation of cilium movement" MONDO:0006914 rdfs:label "obsolete POEMS syndrome" @@ -18836,8 +18846,8 @@ UBERON:0006242 rdfs:label "gall bladder primordium" UBERON:0001628 rdfs:label "posterior communicating artery" NBO:0000455 rdfs:label "attention behavior" GO:0070133 rdfs:label "negative regulation of mitochondrial translational initiation" -NCBITaxon:1980456 rdfs:label "Andes orthohantavirus" NCBITaxon:2129 rdfs:label "Ureaplasma" +NCBITaxon:1980456 rdfs:label "Andes orthohantavirus" GO:0050996 rdfs:label "positive regulation of lipid catabolic process" MONDO:0043283 rdfs:label "silicosiderosis" UBERON:0005045 rdfs:label "mucosa of ethmoidal sinus" @@ -18871,7 +18881,7 @@ CHEBI:50819 rdfs:label "ferric oxide" MONDO:0015093 rdfs:label "sub-cortical nodular heterotopia" MONDO:0032765 rdfs:label "bleeding disorder, platelet-type, 22" MONDO:0013368 rdfs:label "mammary-digital-nail syndrome" -MONDO:0000651 rdfs:label "thoracic disorder" +MONDO:0000651 rdfs:label "obsolete thoracic disorder" http://identifiers.org/hgnc/23038 rdfs:label "LMBRD1" UBERON:0004337 rdfs:label "distal phalanx of manual digit 1" MONDO:0400005 rdfs:label "refeeding syndrome" @@ -19028,8 +19038,8 @@ MONDO:0005027 rdfs:label "epilepsy" MONDO:0000682 rdfs:label "time agnosia" http://identifiers.org/hgnc/18625 rdfs:label "FKBP14" MONDO:0006585 rdfs:label "neurodermatitis" -MONDO:0009395 rdfs:label "hyperostosis corticalis generalisata" MONDO:0037746 rdfs:label "malignant vaginal mixed epithelial and mesenchymal neoplasm" +MONDO:0009395 rdfs:label "hyperostosis corticalis generalisata" MONDO:0015991 rdfs:label "citrullinemia" UBERON:0000076 rdfs:label "external ectoderm" MONDO:0017218 rdfs:label "septopreoptic holoprosencephaly" @@ -19063,10 +19073,10 @@ GO:0044089 rdfs:label "positive regulation of cellular component biogenesis" MONDO:0040732 rdfs:label "Pseudomonas aeruginosa infectious disease" CHEBI:29793 rdfs:label "hydridodioxygen(1+)" HsapDv:0000204 rdfs:label "mature stage" -MONDO:0019995 rdfs:label "peripheral resistance to thyroid hormones" MONDO:0009198 rdfs:label "congenital lethal erythroderma" MONDO:0013253 rdfs:label "breast-ovarian cancer, familial, susceptibility to, 3" MONDO:0002059 rdfs:label "obsolete breast duct papilloma" +MONDO:0019995 rdfs:label "peripheral resistance to thyroid hormones" UBERON:0001531 rdfs:label "right common carotid artery plus branches" http://identifiers.org/hgnc/30859 rdfs:label "SNRNP200" GO:0050669 rdfs:label "negative regulation of homocysteine metabolic process" @@ -19099,8 +19109,8 @@ MONDO:0000114 rdfs:label "cerebelloparenchymal disorder" CHEBI:26873 rdfs:label "terpenoid" MONDO:0006017 rdfs:label "obsolete western equine encephalitis" MONDO:0016814 rdfs:label "maternally-inherited Leigh syndrome" -MONDO:0004705 rdfs:label "liver solitary fibrous tumor" MONDO:0020477 rdfs:label "progeria-associated arthropathy" +MONDO:0004705 rdfs:label "liver solitary fibrous tumor" MONDO:0003679 rdfs:label "anteroseptal myocardial infarction" http://identifiers.org/hgnc/559 rdfs:label "AP1S1" MONDO:0007130 rdfs:label "congenital total pulmonary venous return anomaly" @@ -19138,8 +19148,8 @@ GO:1900122 rdfs:label "positive regulation of receptor binding" MONDO:0019880 rdfs:label "distal trisomy 5q" MONDO:0015908 rdfs:label "chromomycosis" NCBITaxon:160 rdfs:label "Treponema pallidum" -MONDO:0004289 rdfs:label "glottis verrucous carcinoma" UBERON:0003548 rdfs:label "forebrain meninges" +MONDO:0004289 rdfs:label "glottis verrucous carcinoma" MONDO:0018683 rdfs:label "acquired ichthyosis" MONDO:0009564 rdfs:label "Marden-Walker syndrome" MONDO:0008794 rdfs:label "anhidrosis, familial generalized, with abnormal or absent sweat glands" @@ -19187,9 +19197,9 @@ UBERON:0005499 rdfs:label "rhombomere 1" CHEBI:33692 rdfs:label "hydrides" MONDO:0003718 rdfs:label "occlusion precerebral artery" GO:0044441 rdfs:label "obsolete ciliary part" +UBERON:0004698 rdfs:label "vena cava endothelium" MONDO:0006080 rdfs:label "obsolete ampulla of vater carcinoma" CHEBI:32495 rdfs:label "D-phenylalaninium" -UBERON:0004698 rdfs:label "vena cava endothelium" HP:0004921 rdfs:label "Abnormal magnesium concentration" MONDO:0015405 rdfs:label "cerebrofacial arteriovenous metameric syndrome" CL:0002584 rdfs:label "renal cortical epithelial cell" @@ -19207,8 +19217,8 @@ GO:0042483 rdfs:label "negative regulation of odontogenesis" UBERON:0009199 rdfs:label "facial suture" MONDO:0008397 rdfs:label "aplasia of lacrimal and salivary glands" MONDO:0016189 rdfs:label "qualitative or quantitative defects of filamin C" -MONDO:0021535 rdfs:label "pancreatic neuroendocrine tumor G1" http://identifiers.org/hgnc/2409 rdfs:label "CRYGB" +MONDO:0021535 rdfs:label "pancreatic neuroendocrine tumor G1" MONDO:0018462 rdfs:label "Angelman syndrome due to imprinting defect in 15q11-q13" MONDO:0011746 rdfs:label "symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch" MONDO:0005279 rdfs:label "pulmonary embolism" @@ -19364,8 +19374,8 @@ MONDO:0016541 rdfs:label "acquired secondary polycythemia" MONDO:0012105 rdfs:label "granulomatosis with polyangiitis" CHEBI:32487 rdfs:label "L-phenylalaninium" MONDO:0013663 rdfs:label "platelet-activating factor acetylhydrolase deficiency" -GO:0045664 rdfs:label "regulation of neuron differentiation" CHEBI:35297 rdfs:label "acene" +GO:0045664 rdfs:label "regulation of neuron differentiation" CHEBI:17781 rdfs:label "lumichrome" MONDO:0015740 rdfs:label "trisomy 18p" MONDO:0011419 rdfs:label "camera-Marugo-Cohen syndrome" @@ -19384,9 +19394,9 @@ HP:0000522 rdfs:label "Alacrima" MONDO:0100057 rdfs:label "food-dependent exercise-induced anaphylaxis" MONDO:0017123 rdfs:label "arthrogryposis-renal dysfunction-cholestasis syndrome" UBERON:0001629 rdfs:label "carotid body" -CHR:9606-chr14q11 rdfs:label "14q11 (Human)" MONDO:0006917 rdfs:label "posterior cerebral artery infarction" MONDO:0015811 rdfs:label "primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma" +CHR:9606-chr14q11 rdfs:label "14q11 (Human)" GO:0070134 rdfs:label "positive regulation of mitochondrial translational initiation" MONDO:0001032 rdfs:label "Mooren ulcer" MONDO:0004549 rdfs:label "cork-handlers' disease" @@ -19409,8 +19419,8 @@ MONDO:0056805 rdfs:label "benign peripheral nerve granular cell tumor" MONDO:0005153 rdfs:label "cervical adenocarcinoma" MONDO:0007122 rdfs:label "anisocoria" MONDO:0004736 rdfs:label "inherited amino acid metabolic disorder" -GO:0045944 rdfs:label "positive regulation of transcription by RNA polymerase II" MONDO:0005810 rdfs:label "infectious mononucleosis" +GO:0045944 rdfs:label "positive regulation of transcription by RNA polymerase II" MONDO:0007996 rdfs:label "microphthalmia, isolated, with corectopia" UBERON:2001053 rdfs:label "future internal carotid artery" NCBITaxon:6947 rdfs:label "Prostigmata" @@ -19487,12 +19497,12 @@ MONDO:0030462 rdfs:label "Joubert syndrome 40" MONDO:0000431 rdfs:label "obsolete mantle cell lymphoma" MONDO:0019722 rdfs:label "glomerular disorder" MONDO:0006197 rdfs:label "endometrial small cell carcinoma" +UBERON:0001085 rdfs:label "skin of trunk" NCBITaxon:967 rdfs:label "Spirillum" MONDO:0011062 rdfs:label "aprosencephaly cerebellar dysgenesis" -UBERON:0001085 rdfs:label "skin of trunk" +CHEBI:33521 rdfs:label "metal atom" MONDO:0006373 rdfs:label "pituitary gland adenoma" MONDO:0006026 rdfs:label "urinary bladder disorder" -CHEBI:33521 rdfs:label "metal atom" NCBITaxon:6843 rdfs:label "Chelicerata" MONDO:0018525 rdfs:label "solid pseudopapillary carcinoma of pancreas" GO:0097485 rdfs:label "neuron projection guidance" @@ -19596,7 +19606,7 @@ MONDO:0011472 rdfs:label "epidermolysis bullosa simplex due to plakophilin defic MONDO:0014695 rdfs:label "glioma susceptibility 9" UBERON:0004894 rdfs:label "alveolar wall" MONDO:0004034 rdfs:label "eye lymphoma" -MONDO:0008625 rdfs:label "urate-binding globulin, decrease 1N" +MONDO:0008625 rdfs:label "obsolete urate-binding globulin, decrease 1N" MONDO:0016639 rdfs:label "lower limb deficiency-hypospadias syndrome" MONDO:0018839 rdfs:label "acquired schizencephaly" MONDO:0009199 rdfs:label "ethanolaminosis" @@ -19614,11 +19624,11 @@ MONDO:0015237 rdfs:label "arrhinia" MONDO:0010009 rdfs:label "obsolete SC phocomelia syndrome" MONDO:0018369 rdfs:label "immature ovarian teratoma" MONDO:0000078 rdfs:label "acrocephalopolysyndactyly" -MONDO:0009207 rdfs:label "factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor" GO:0070126 rdfs:label "mitochondrial translational termination" +MONDO:0009207 rdfs:label "factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor" +http://identifiers.org/hgnc/6742 rdfs:label "LZTR1" MONDO:0013926 rdfs:label "hypogonadotropic hypogonadism 14 with or without anosmia" MONDO:0015803 rdfs:label "wound botulism" -http://identifiers.org/hgnc/6742 rdfs:label "LZTR1" MONDO:0002278 rdfs:label "benign colon neoplasm" MONDO:0001024 rdfs:label "pneumonic plague" GO:0016462 rdfs:label "pyrophosphatase activity" @@ -19666,8 +19676,8 @@ UBERON:0002749 rdfs:label "regional part of cerebellar cortex" MONDO:0042490 rdfs:label "neutropenia, severe congenital, 1, autosomal dominant" MONDO:0015909 rdfs:label "aplastic anemia" GO:0044255 rdfs:label "cellular lipid metabolic process" -http://identifiers.org/hgnc/2978 rdfs:label "DNMT3A" MONDO:0007638 rdfs:label "fucosidase regulator" +http://identifiers.org/hgnc/2978 rdfs:label "DNMT3A" MONDO:0022022 rdfs:label "bowenoid papulosis" MONDO:0011816 rdfs:label "lathosterolosis" MONDO:0019599 rdfs:label "primary lipodystrophy" @@ -19718,8 +19728,8 @@ UBERON:0008876 rdfs:label "hypodermis skeletal muscle layer" UBERON:0004699 rdfs:label "outflow tract endothelium" MONDO:0015406 rdfs:label "cerebrofacial arteriovenous metameric syndrome type 1" CL:0002585 rdfs:label "retinal blood vessel endothelial cell" -SO:0000988 rdfs:label "circular" MONDO:0019148 rdfs:label "Wolman disease" +SO:0000988 rdfs:label "circular" MONDO:0017061 rdfs:label "closed iniencephaly" NCBITaxon:40674 rdfs:label "Mammalia" MONDO:0008469 rdfs:label "spondyloepimetaphyseal dysplasia-hypotrichosis syndrome" @@ -19786,9 +19796,9 @@ http://identifiers.org/hgnc/7967 rdfs:label "NR1H4" MONDO:0006729 rdfs:label "discrete subaortic stenosis" MONDO:0018892 rdfs:label "Wyburn-Mason syndrome" MONDO:0200000 rdfs:label "uterine ligament adenosarcoma" -HP:0012252 rdfs:label "Abnormal respiratory system morphology" MONDO:0013768 rdfs:label "arterial calcification, generalized, of infancy, 2" MONDO:0012514 rdfs:label "hypomyelinating leukodystrophy 5" +HP:0012252 rdfs:label "Abnormal respiratory system morphology" MONDO:0000488 rdfs:label "periampullary adenoma" MONDO:0015797 rdfs:label "UV-sensitive syndrome" NCBITaxon:630 rdfs:label "Yersinia enterocolitica" @@ -19802,9 +19812,9 @@ NCBITaxon:712 rdfs:label "Pasteurellaceae" MONDO:0002667 rdfs:label "gallbladder signet ring cell adenocarcinoma" MONDO:0011112 rdfs:label "Wilms tumor 5" MONDO:0010556 rdfs:label "X-linked chondrodysplasia punctata" +UBERON:0004395 rdfs:label "epiphysis of first metatarsal bone" http://identifiers.org/hgnc/8549 rdfs:label "BLOC1S6" MONDO:0014372 rdfs:label "cone-rod dystrophy 19" -UBERON:0004395 rdfs:label "epiphysis of first metatarsal bone" MONDO:0060583 rdfs:label "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" MONDO:0010732 rdfs:label "spastic paraparesis-deafness syndrome" MONDO:0013955 rdfs:label "mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" @@ -19859,8 +19869,8 @@ MONDO:0008821 rdfs:label "arthrogryposis, distal, with intellectual disability a http://identifiers.org/hgnc/8024 rdfs:label "NTF4" GO:0043066 rdfs:label "negative regulation of apoptotic process" MONDO:0015229 rdfs:label "Bardet-Biedl syndrome" -UBERON:0011932 rdfs:label "pilosebaceous unit" MONDO:0012329 rdfs:label "short stature and Facioauriculothoracic malformations" +UBERON:0011932 rdfs:label "pilosebaceous unit" MONDO:0001033 rdfs:label "mycotic corneal ulcer" MONDO:0017429 rdfs:label "joint formation defects" MONDO:0032565 rdfs:label "ophthalmoplegia, external, with rib and vertebral anomalies" @@ -19881,8 +19891,8 @@ MONDO:0012516 rdfs:label "mandibulofacial dysostosis-microcephaly syndrome" MONDO:0005154 rdfs:label "liver disorder" MONDO:0007123 rdfs:label "ankyloblepharon filiforme adnatum-cleft palate syndrome" MONDO:0043168 rdfs:label "panostotic fibrous dysplasia" -UBERON:0003265 rdfs:label "chorionic mesenchyme" MONDO:0004737 rdfs:label "homocystinuria" +UBERON:0003265 rdfs:label "chorionic mesenchyme" MONDO:0010148 rdfs:label "Mounier-Kuhn syndrome" MONDO:0005811 rdfs:label "infectious myxomatosis" MONDO:0100012 rdfs:label "paratenonitis" @@ -19971,13 +19981,13 @@ UBERON:0001470 rdfs:label "glenohumeral joint" NCBITaxon:6657 rdfs:label "Crustacea" UBERON:0010286 rdfs:label "midbrain neural tube" UBERON:0007373 rdfs:label "inferior surface of tongue" -UBERON:0004255 rdfs:label "forelimb stylopod muscle" UBERON:0001860 rdfs:label "endolymphatic duct" GO:0048018 rdfs:label "receptor ligand activity" +UBERON:0004255 rdfs:label "forelimb stylopod muscle" MONDO:0006801 rdfs:label "ileal neoplasm" CHEBI:16709 rdfs:label "pyridoxine" -MONDO:0014537 rdfs:label "nephronophthisis 19" CL:4006001 rdfs:label "fibroblast of skin of scalp" +MONDO:0014537 rdfs:label "nephronophthisis 19" http://identifiers.org/hgnc/28472 rdfs:label "TMEM43" GO:0046885 rdfs:label "regulation of hormone biosynthetic process" http://identifiers.org/hgnc/12698 rdfs:label "VLDLR" @@ -20009,9 +20019,9 @@ MONDO:0017124 rdfs:label "noma" MONDO:0015812 rdfs:label "primary cutaneous gamma/delta-positive T-cell lymphoma" MONDO:0004902 rdfs:label "interstitial keratitis" HP:0010566 rdfs:label "Hamartoma" -ENVO:01000325 rdfs:label "aquatic layer" MONDO:0015260 rdfs:label "diphyllobothriasis" GO:0004345 rdfs:label "glucose-6-phosphate dehydrogenase activity" +ENVO:01000325 rdfs:label "aquatic layer" http://identifiers.org/hgnc/6535 rdfs:label "LDHA" HP:0003256 rdfs:label "Abnormality of the coagulation cascade" GO:0001959 rdfs:label "regulation of cytokine-mediated signaling pathway" @@ -20025,9 +20035,9 @@ MONDO:0006198 rdfs:label "endometrial squamous cell carcinoma" http://identifiers.org/hgnc/17772 rdfs:label "TXN2" MONDO:0006374 rdfs:label "placental choriocarcinoma" NCBITaxon:170 rdfs:label "Leptospiraceae" -UBERON:0001105 rdfs:label "clavicle bone" MONDO:0002130 rdfs:label "upper limb mononeuronitis" MONDO:0018526 rdfs:label "obsolete serous cystadenocarcinoma of pancreas" +UBERON:0001105 rdfs:label "clavicle bone" MONDO:0000514 rdfs:label "bone squamous cell carcinoma" ECTO:7000008 rdfs:label "exposure to clay" UBERON:0009122 rdfs:label "adenohypophyseal placode" @@ -20056,8 +20066,8 @@ UBERON:0005249 rdfs:label "metanephric renal pelvis" MONDO:0003571 rdfs:label "obsolete labyrinthine dysfunction" UBERON:0002546 rdfs:label "cranial placode" MONDO:0009761 rdfs:label "cystic hygroma" -http://identifiers.org/hgnc/756 rdfs:label "ASPA" UBERON:0002722 rdfs:label "trochlear nucleus" +http://identifiers.org/hgnc/756 rdfs:label "ASPA" MONDO:0018192 rdfs:label "paratesticular adenocarcinoma" http://identifiers.org/hgnc/6882 rdfs:label "MAPK8IP1" GO:0042068 rdfs:label "regulation of pteridine metabolic process" @@ -20109,8 +20119,8 @@ GO:0043400 rdfs:label "cortisol secretion" MONDO:0003291 rdfs:label "leiomyoma cutis" MONDO:0004622 rdfs:label "chronic intestinal vascular insufficiency" GO:2000725 rdfs:label "regulation of cardiac muscle cell differentiation" -GO:0045830 rdfs:label "positive regulation of isotype switching" UBERON:0006339 rdfs:label "third ventricle choroid plexus stroma" +GO:0045830 rdfs:label "positive regulation of isotype switching" UBERON:0036303 rdfs:label "vasculature of central nervous system" UBERON:8410002 rdfs:label "small intestine lymphatic vessel" UBERON:0011892 rdfs:label "anterior uvea" @@ -20162,8 +20172,8 @@ MONDO:0017809 rdfs:label "parkinsonism due to ATP13A2 deficiency" http://identifiers.org/hgnc/16175 rdfs:label "RSPO4" UBERON:5006048 rdfs:label "digit 1 plus metapodial segment" MONDO:0016987 rdfs:label "neuroacanthocytosis" -SO:0000301 rdfs:label "vertebrate_immune_system_gene_recombination_feature" MONDO:0015617 rdfs:label "genetic gastro-esophageal disease" +SO:0000301 rdfs:label "vertebrate_immune_system_gene_recombination_feature" http://identifiers.org/hgnc/1983 rdfs:label "UTP4" CL:0000151 rdfs:label "secretory cell" MONDO:0016870 rdfs:label "partial deletion of chromosome 5" @@ -20209,8 +20219,8 @@ MONDO:0005185 rdfs:label "chronic childhood arthritis" MONDO:0004896 rdfs:label "esotropia" MONDO:0010531 rdfs:label "contractures-ectodermal dysplasia-cleft lip/palate syndrome" MONDO:0005842 rdfs:label "maxillary sinusitis" -MONDO:0003141 rdfs:label "cerebellopontine angle embryonal tumor" UBERON:0004370 rdfs:label "anterior limiting lamina of cornea" +MONDO:0003141 rdfs:label "cerebellopontine angle embryonal tumor" NCBITaxon:2732533 rdfs:label "Zurhausenvirales" GO:1903999 rdfs:label "negative regulation of eating behavior" CL:1001517 rdfs:label "stomach enteroendocrine cell" @@ -20220,12 +20230,12 @@ GO:0032989 rdfs:label "cellular component morphogenesis" MONDO:0017673 rdfs:label "isolated focal palmoplantar keratoderma" UBERON:0013149 rdfs:label "hindbrain vesicle" http://identifiers.org/hgnc/7230 rdfs:label "MRE11" -GO:0060760 rdfs:label "positive regulation of response to cytokine stimulus" NCBITaxon:37567 rdfs:label "Ditrysia" +GO:0060760 rdfs:label "positive regulation of response to cytokine stimulus" MONDO:0003070 rdfs:label "axillary lymphadenitis" +UBERON:0001275 rdfs:label "pubis" MONDO:0011252 rdfs:label "spondyloepimetaphyseal dysplasia, Shohat type" MONDO:0000684 rdfs:label "verbal auditory agnosia" -UBERON:0001275 rdfs:label "pubis" MONDO:0006587 rdfs:label "obsolete nodular nonsuppurative panniculitis" MONDO:0024658 rdfs:label "extrahepatic bile duct sarcoma" MONDO:0013105 rdfs:label "basal cell carcinoma, susceptibility to, 5" @@ -20239,8 +20249,8 @@ CHEBI:53309 rdfs:label "polyanionic macromolecule" http://identifiers.org/hgnc/17091 rdfs:label "NCSTN" MONDO:0011817 rdfs:label "coronary heart disease, susceptibility to, 1" MONDO:0017977 rdfs:label "obsolete 46,XY disorder of sex development of gynecological interest" -GO:0006778 rdfs:label "porphyrin-containing compound metabolic process" MONDO:0010752 rdfs:label "VACTERL association, X-linked, with or without hydrocephalus" +GO:0006778 rdfs:label "porphyrin-containing compound metabolic process" UBERON:0004929 rdfs:label "submucosa of ascending colon" MONDO:0022173 rdfs:label "chromosome 11q trisomy" UBERON:0003538 rdfs:label "right lung bronchiole" @@ -20271,8 +20281,8 @@ CL:1000222 rdfs:label "stomach neuroendocrine cell" http://identifiers.org/hgnc/3969 rdfs:label "FSHR" http://identifiers.org/hgnc/6180 rdfs:label "ITPR1" MONDO:0011748 rdfs:label "Usher syndrome type 1G" -MONDO:0016848 rdfs:label "juvenile temporal arteritis" CL:0000457 rdfs:label "biogenic amine secreting cell" +MONDO:0016848 rdfs:label "juvenile temporal arteritis" GO:0045861 rdfs:label "negative regulation of proteolysis" GO:0060005 rdfs:label "vestibular reflex" CL:0002657 rdfs:label "glandular cell of esophagus" @@ -20293,8 +20303,8 @@ MONDO:0006019 rdfs:label "yaws" UBERON:0002265 rdfs:label "olfactory tract" MONDO:0003376 rdfs:label "mediastinum leiomyosarcoma" http://identifiers.org/hgnc/882 rdfs:label "ATR" -UBERON:0004465 rdfs:label "musculature of neck" MONDO:0010930 rdfs:label "anophthalmia plus syndrome" +UBERON:0004465 rdfs:label "musculature of neck" UBERON:0010303 rdfs:label "extraembryonic epithelium" UBERON:0002529 rdfs:label "limb segment" MONDO:0007132 rdfs:label "anonychia-ectrodactyly" @@ -20318,8 +20328,8 @@ MONDO:0014898 rdfs:label "progressive external ophthalmoplegia with mitochondria MONDO:0023035 rdfs:label "Eagle syndrome" UBERON:0005867 rdfs:label "mandibular prominence" UBERON:0002148 rdfs:label "locus ceruleus" -MONDO:0200001 rdfs:label "obsolete chromate resistance" UBERON:0004780 rdfs:label "gastrointestinal system lamina propria" +MONDO:0200001 rdfs:label "obsolete chromate resistance" GO:0010950 rdfs:label "positive regulation of endopeptidase activity" MONDO:0005350 rdfs:label "abdominal aortic aneurysm" http://identifiers.org/hgnc/2933 rdfs:label "DMPK" @@ -20375,11 +20385,11 @@ UBERON:0010295 rdfs:label "substantia propria of sclera" HP:0100314 rdfs:label "Cerebral inclusion bodies" UBERON:0007772 rdfs:label "scrotal sweat" http://identifiers.org/hgnc/18658 rdfs:label "NUP205" -MONDO:0007692 rdfs:label "hairy ears" +MONDO:0007692 rdfs:label "obsolete hairy ears" GO:2000225 rdfs:label "negative regulation of testosterone biosynthetic process" CHEBI:33694 rdfs:label "biomacromolecule" -MONDO:0004161 rdfs:label "uterine corpus apoplectic leiomyoma" MONDO:0016356 rdfs:label "diffuse cutaneous systemic sclerosis" +MONDO:0004161 rdfs:label "uterine corpus apoplectic leiomyoma" MONDO:0015102 rdfs:label "non-secreting chemodectoma" MONDO:0020590 rdfs:label "mycobacterial infectious disease" http://identifiers.org/hgnc/11535 rdfs:label "TAF1" @@ -20409,16 +20419,16 @@ MONDO:0020214 rdfs:label "posterior corneal dystrophy" MONDO:0014759 rdfs:label "intellectual disability, autosomal recessive 51" MONDO:0008822 rdfs:label "arthrogryposis, renal dysfunction, and cholestasis 1" http://identifiers.org/hgnc/29250 rdfs:label "WDR35" -PO:0009002 rdfs:label "plant cell" MONDO:0004573 rdfs:label "ariboflavinosis" +PO:0009002 rdfs:label "plant cell" http://identifiers.org/hgnc/21057 rdfs:label "RSPH9" NCBITaxon:234 rdfs:label "Brucella" HP:0009797 rdfs:label "Cholesteatoma" MONDO:0001034 rdfs:label "marginal corneal ulcer" GO:1901264 rdfs:label "carbohydrate derivative transport" -MONDO:0020182 rdfs:label "obsolete palpebral tumor with a vascular malformation" MONDO:0009239 rdfs:label "hypogonadotropic hypogonadism 24 without anosmia" MONDO:0004410 rdfs:label "sarcomatoid penile squamous cell carcinoma" +MONDO:0020182 rdfs:label "obsolete palpebral tumor with a vascular malformation" HP:0010762 rdfs:label "Chordoma" MONDO:0023699 rdfs:label "Maroteaux Fonfria syndrome" GO:0071305 rdfs:label "cellular response to vitamin D" @@ -20453,8 +20463,8 @@ HP:0002686 rdfs:label "Prenatal maternal abnormality" MONDO:0001431 rdfs:label "toxic or nutritional optic neuropathy" MONDO:0007334 rdfs:label "autosomal dominant popliteal pterygium syndrome" HP:0004381 rdfs:label "Supravalvular aortic stenosis" -UBERON:0012251 rdfs:label "ectocervical epithelium" NCBITaxon:142786 rdfs:label "Norovirus" +UBERON:0012251 rdfs:label "ectocervical epithelium" UBERON:0018154 rdfs:label "ligament of middle ear" MONDO:0010559 rdfs:label "MASA syndrome" MONDO:0017275 rdfs:label "spastic paraplegia-facial-cutaneous lesions syndrome" @@ -20604,14 +20614,14 @@ MONDO:0003205 rdfs:label "renal pelvis adenocarcinoma" UBERON:0010744 rdfs:label "sacral vertebra pre-cartilage condensation" NCBITaxon:2044726 rdfs:label "Dioctophymatida" MONDO:0021234 rdfs:label "spinal cord neoplasm" -MONDO:0016545 rdfs:label "leukoencephalopathy-palmoplantar keratoderma syndrome" SO:0000300 rdfs:label "recombination_feature_of_rearranged_gene" +MONDO:0016545 rdfs:label "leukoencephalopathy-palmoplantar keratoderma syndrome" MONDO:0000021 rdfs:label "obsolete short-rib thoracic dysplasia" MONDO:0008509 rdfs:label "distal symphalangism" -MONDO:0054849 rdfs:label "inflammatory bowel disease 29" -MONDO:0032828 rdfs:label "spastic tetraplegia and axial hypotonia, progressive" MONDO:0007835 rdfs:label "intussusception" IAO:0000078 rdfs:label "curation status specification"@en +MONDO:0054849 rdfs:label "inflammatory bowel disease 29" +MONDO:0032828 rdfs:label "spastic tetraplegia and axial hypotonia, progressive" MONDO:0009762 rdfs:label "nystagmus, congenital, autosomal recessive" http://identifiers.org/hgnc/119 rdfs:label "ACOX1" UBERON:0015036 rdfs:label "pedal digit metatarsal endochondral element" @@ -20626,9 +20636,9 @@ MONDO:0014703 rdfs:label "Adams-Oliver syndrome 6" MONDO:0025489 rdfs:label "enzootic bovine leukosis" GO:0043011 rdfs:label "myeloid dendritic cell differentiation" MONDO:0008919 rdfs:label "systemic primary carnitine deficiency disease" -MONDO:0025061 rdfs:label "edema disease of swine" MONDO:0002677 rdfs:label "conventional fibrosarcoma" MONDO:0001423 rdfs:label "drug-induced mental disorder" +MONDO:0025061 rdfs:label "edema disease of swine" http://identifiers.org/hgnc/4319 rdfs:label "GLI3" GO:0043401 rdfs:label "steroid hormone mediated signaling pathway" MONDO:0007189 rdfs:label "obsolete B-cell growth factor" @@ -20636,8 +20646,8 @@ MONDO:0022675 rdfs:label "cataract skeletal anomalies" MONDO:0017986 rdfs:label "disorder of plasmalogens biosynthesis" MONDO:0016732 rdfs:label "obsolete dysembryoplastic neuroepithelial tumor" UBERON:0002077 rdfs:label "cortex of hair" -MONDO:0020395 rdfs:label "valvar pulmonary stenosis" MONDO:0004623 rdfs:label "obsolete prostate carcinoma in situ" +MONDO:0020395 rdfs:label "valvar pulmonary stenosis" MONDO:0018932 rdfs:label "cirrhotic cardiomyopathy" PO:0025082 rdfs:label "reproductive shoot system" MONDO:0012359 rdfs:label "combined immunodeficiency due to partial RAG1 deficiency" @@ -20699,9 +20709,9 @@ GO:0005976 rdfs:label "polysaccharide metabolic process" MONDO:0015261 rdfs:label "pseudopelade of Brocq" UBERON:0001684 rdfs:label "mandible" UBERON:0034714 rdfs:label "epiphyseal tract" -UBERON:0008229 rdfs:label "craniocervical region musculature" UBERON:0002326 rdfs:label "lamina propria of urethra" MONDO:0044033 rdfs:label "posterior leukoencephalopathy syndrome" +UBERON:0008229 rdfs:label "craniocervical region musculature" MONDO:0017461 rdfs:label "familial isolated clinodactyly of fingers" UBERON:0003537 rdfs:label "left lung alveolar duct" MONDO:0011944 rdfs:label "systemic lupus erythematosus with nephritis, susceptibility to, 3" @@ -20731,8 +20741,8 @@ MONDO:0018863 rdfs:label "obsolete leptospirosis" MONDO:0020058 rdfs:label "gonosome anomaly" UBERON:0004141 rdfs:label "heart tube" MONDO:0044220 rdfs:label "obsolete blood group, 1 system" -MONDO:0016190 rdfs:label "qualitative or quantitative defects of protein ZASP" http://identifiers.org/hgnc/1984 rdfs:label "CISH" +MONDO:0016190 rdfs:label "qualitative or quantitative defects of protein ZASP" ENVO:09000009 rdfs:label "concentration of carbon atom in water" CL:0000152 rdfs:label "exocrine cell" MONDO:0018043 rdfs:label "Thomas syndrome" @@ -20766,7 +20776,7 @@ MONDO:0003071 rdfs:label "obsolete epidermolysis bullosa simplex" MONDO:0000685 rdfs:label "visual agnosia" MONDO:0005656 rdfs:label "Ascaridida infectious disease" MONDO:0004402 rdfs:label "testicular yolk sac tumor, glandular-alveolar pattern" -MONDO:0006588 rdfs:label "nonepidermolytic palmoplantar keratoderma" +MONDO:0006588 rdfs:label "obsolete nonepidermolytic palmoplantar keratoderma" NCBITaxon:203492 rdfs:label "Fusobacteriaceae" MONDO:0009398 rdfs:label "hyperphosphatasia with intellectual disability syndrome 1" UBERON:0003129 rdfs:label "skull" @@ -20859,8 +20869,8 @@ CL:0000223 rdfs:label "endodermal cell" GO:0010951 rdfs:label "negative regulation of endopeptidase activity" CHEBI:35507 rdfs:label "natural product fundamental parent" MONDO:0010345 rdfs:label "obsolete ocular albinism" -NCBITaxon:31285 rdfs:label "Trypanosoma brucei gambiense" MONDO:0022846 rdfs:label "congenital nonhemolytic jaundice" +NCBITaxon:31285 rdfs:label "Trypanosoma brucei gambiense" MONDO:0020410 rdfs:label "aorto-right ventricular tunnel" MONDO:0017453 rdfs:label "fetal parvovirus syndrome" NCBITaxon:523089 rdfs:label "Haemaphysalis concinna" @@ -20890,11 +20900,11 @@ UBERON:0003318 rdfs:label "mesenchyme of elbow" MONDO:0017500 rdfs:label "congenital absence of both lower leg and foot, unilateral" UBERON:0004781 rdfs:label "gall bladder lamina propria" MONDO:0017674 rdfs:label "obsolete disease with focal palmoplantar keratoderma as a major feature" -UBERON:3000961 rdfs:label "external integument structure" MONDO:0005351 rdfs:label "anorexia nervosa" +UBERON:3000961 rdfs:label "external integument structure" GO:0016830 rdfs:label "carbon-carbon lyase activity" -MONDO:0009638 rdfs:label "mitochondrial myopathy with a defect in mitochondrial-protein transport" GO:0060761 rdfs:label "negative regulation of response to cytokine stimulus" +MONDO:0009638 rdfs:label "mitochondrial myopathy with a defect in mitochondrial-protein transport" UBERON:0013718 rdfs:label "dartos muscle" MONDO:0015799 rdfs:label "Smith-McCort dysplasia" MONDO:0013106 rdfs:label "basal cell carcinoma, susceptibility to, 6" @@ -20954,9 +20964,9 @@ CHR:9606-chr7p22 rdfs:label "7p22 (Human)" MONDO:0016357 rdfs:label "dysplastic cortical hyperostosis" MONDO:0015103 rdfs:label "pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome" CL:0000666 rdfs:label "fenestrated cell" -http://identifiers.org/hgnc/8885 rdfs:label "PGA3" http://identifiers.org/hgnc/11536 rdfs:label "TAF2" MONDO:0010064 rdfs:label "spastic ataxia-corneal dystrophy syndrome" +http://identifiers.org/hgnc/8885 rdfs:label "PGA3" MONDO:0001198 rdfs:label "acquired thrombocytopenia" MONDO:0000570 rdfs:label "obsolete severe combined immunodeficiency due to artemis deficiency" MONDO:0025100 rdfs:label "mastitis, bovine" @@ -21096,11 +21106,11 @@ http://identifiers.org/hgnc/30696 rdfs:label "WDR36" HP:0410042 rdfs:label "Abnormal liver morphology" UBERON:0002275 rdfs:label "reticular formation" MONDO:0002836 rdfs:label "urethra transitional cell carcinoma" +UBERON:0009124 rdfs:label "geniculate placode" HP:0002383 rdfs:label "Encephalitis" CL:0000161 rdfs:label "acid secreting cell" -UBERON:0009124 rdfs:label "geniculate placode" -MONDO:0015168 rdfs:label "arthrogryposis multiplex congenita" UBERON:0003221 rdfs:label "phalanx" +MONDO:0015168 rdfs:label "arthrogryposis multiplex congenita" CHR:9606-chr9q31.1-q31.3 rdfs:label "9q31.1-q31.3 (Human)" GO:0032504 rdfs:label "multicellular organism reproduction" http://identifiers.org/hgnc/6901 rdfs:label "MASP1" @@ -21159,10 +21169,10 @@ MONDO:0003639 rdfs:label "lung hilum neoplasm" MONDO:0007836 rdfs:label "IVIC syndrome" CL:2000016 rdfs:label "lung microvascular endothelial cell" MONDO:0032829 rdfs:label "neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities" -MONDO:0009125 rdfs:label "dopamine beta-hydroxylase, plasma, thermolability of" +MONDO:0009125 rdfs:label "obsolete dopamine beta-hydroxylase, plasma, thermolability of" MONDO:0019922 rdfs:label "paternal uniparental disomy of chromosome 7" -MONDO:0011390 rdfs:label "focal segmental glomerulosclerosis 2" UBERON:0015037 rdfs:label "pedal digit 1 metatarsal endochondral element" +MONDO:0011390 rdfs:label "focal segmental glomerulosclerosis 2" MONDO:0012032 rdfs:label "Braddock syndrome" MONDO:0016804 rdfs:label "obsolete exercise intolerance with lactic acidosis" CHR:9606-chr13q rdfs:label "13q (Human)" @@ -21177,8 +21187,8 @@ NCBITaxon:487 rdfs:label "Neisseria meningitidis" MONDO:0030870 rdfs:label "premature ovarian failure 17" MONDO:0017987 rdfs:label "syringomyelia" MONDO:0016733 rdfs:label "ganglioglioma" -MONDO:0004624 rdfs:label "uvula cancer" MONDO:0020396 rdfs:label "anomaly of the tricuspid valve chordae" +MONDO:0004624 rdfs:label "uvula cancer" GO:2000727 rdfs:label "positive regulation of cardiac muscle cell differentiation" MONDO:0018933 rdfs:label "Mazabraud syndrome" UBERON:8410004 rdfs:label "small intestine arteriole" @@ -21193,8 +21203,8 @@ MONDO:0006146 rdfs:label "chondroid hamartoma" UBERON:0012278 rdfs:label "gland of nasal mucosa" GO:1903487 rdfs:label "regulation of lactation" UBERON:0004257 rdfs:label "upper leg blood vessel" -UBERON:0001862 rdfs:label "vestibular labyrinth" MONDO:0012746 rdfs:label "dilated cardiomyopathy 2A" +UBERON:0001862 rdfs:label "vestibular labyrinth" PCO:0000001 rdfs:label "population of organisms"@en MONDO:0006803 rdfs:label "inferior myocardial infarction" UBERON:0005331 rdfs:label "mesonephric renal vesicle" @@ -21202,9 +21212,9 @@ CHEBI:50630 rdfs:label "cyclooxygenase 1 inhibitor" http://identifiers.org/hgnc/17869 rdfs:label "AFF4" GO:1905516 rdfs:label "positive regulation of fertilization" MONDO:0015816 rdfs:label "indolent primary cutaneous T-cell lymphoma" +MONDO:0018591 rdfs:label "ITM2B amyloidosis" http://identifiers.org/hgnc/29557 rdfs:label "NEXN" http://identifiers.org/hgnc/30546 rdfs:label "FDX2" -MONDO:0018591 rdfs:label "ITM2B amyloidosis" http://identifiers.org/hgnc/4507 rdfs:label "GABBR2" MONDO:0015417 rdfs:label "Tessier number 6 facial cleft" MONDO:0016349 rdfs:label "congenital hydrocephalus" @@ -21214,8 +21224,8 @@ MONDO:0019159 rdfs:label "Loeffler endocarditis" GO:0048585 rdfs:label "negative regulation of response to stimulus" HsapDv:0000082 rdfs:label "newborn human stage" MONDO:0008784 rdfs:label "obsolete autoimmune hemolytic anemia" -MONDO:0020835 rdfs:label "methemoglobinemia, alpha type" MONDO:0001645 rdfs:label "crescentic glomerulonephritis" +MONDO:0020835 rdfs:label "methemoglobinemia, alpha type" MONDO:0014413 rdfs:label "orofaciodigital syndrome type 14" MONDO:0003845 rdfs:label "corpus callosum lipoma" http://identifiers.org/hgnc/3767 rdfs:label "FLT4" @@ -21223,8 +21233,8 @@ MONDO:0006029 rdfs:label "cecum carcinoma" GO:0019842 rdfs:label "vitamin binding" MONDO:0007587 rdfs:label "external auditory canal atresia-vertical talus-hypertelorism syndrome" UBERON:0014717 rdfs:label "mucous acinus" -MONDO:0043452 rdfs:label "chromosome 8, trisomy" MONDO:0000518 rdfs:label "sacrum chordoma" +MONDO:0043452 rdfs:label "chromosome 8, trisomy" UBERON:0012465 rdfs:label "lumen of terminal part of digestive tract" MONDO:0041903 rdfs:label "gonococcal infection of joint" UBERON:0001911 rdfs:label "mammary gland" @@ -21273,7 +21283,7 @@ MONDO:0005657 rdfs:label "aspergillosis" MONDO:0004403 rdfs:label "childhood precursor T-lymphoblastic lymphoma/leukemia" GO:0006695 rdfs:label "cholesterol biosynthetic process" CHEBI:78616 rdfs:label "carbohydrates and carbohydrate derivatives" -MONDO:0020059 rdfs:label "gonosome number anomaly" +MONDO:0020059 rdfs:label "obsolete gonosome number anomaly" http://identifiers.org/hgnc/7978 rdfs:label "NR3C1" UBERON:0007635 rdfs:label "nucleus of medulla oblongata" NCBITaxon:172148 rdfs:label "Alkhumra hemorrhagic fever virus" @@ -21287,8 +21297,8 @@ MONDO:0021235 rdfs:label "external ear neoplasm" MONDO:0016191 rdfs:label "qualitative or quantitative defects of titin" GO:0008289 rdfs:label "lipid binding" GO:0009235 rdfs:label "cobalamin metabolic process" -MONDO:0019391 rdfs:label "Fanconi anemia" MONDO:0012525 rdfs:label "Leber congenital amaurosis 12" +MONDO:0019391 rdfs:label "Fanconi anemia" GO:0042391 rdfs:label "regulation of membrane potential" MONDO:0019220 rdfs:label "inborn disorder of cobalamin metabolism and transport" MONDO:0000499 rdfs:label "non-arteritic anterior ischemic optic neuropathy" @@ -21323,7 +21333,7 @@ MONDO:0001760 rdfs:label "photokeratitis" MONDO:0009399 rdfs:label "hyperphosphatemia, polyuria, and seizures" MONDO:0030057 rdfs:label "neurodevelopmental, jaw, eye, and digital syndrome" MONDO:0015995 rdfs:label "melorheostosis with osteopoikilosis" -MONDO:0017011 rdfs:label "uniparental disomy of chromosome X" +MONDO:0017011 rdfs:label "obsolete uniparental disomy of chromosome X" MONDO:0012748 rdfs:label "primary ciliary dyskinesia 7" CL:0002574 rdfs:label "stromal cell of pancreas" MONDO:0009789 rdfs:label "nonarteritic anterior ischemic optic neuropathy, susceptibility to" @@ -21377,8 +21387,8 @@ CHR:9606-chr20p13 rdfs:label "20p13 (Human)" MONDO:0001489 rdfs:label "obsolete urticaria pigmentosa" PATO:0001406 rdfs:label "binucleate" NCBITaxon:116706 rdfs:label "Heterotremata" -MONDO:0016798 rdfs:label "ataxia neuropathy spectrum" UBERON:0006916 rdfs:label "non-keratinized epithelium of tongue" +MONDO:0016798 rdfs:label "ataxia neuropathy spectrum" MONDO:0007251 rdfs:label "campomelic dysplasia" NCBITaxon:34609 rdfs:label "Amblyomma maculatum" MONDO:0032880 rdfs:label "developmental and epileptic encephalopathy, 82" @@ -21387,16 +21397,16 @@ UBERON:0005362 rdfs:label "vagus X ganglion" MONDO:0011475 rdfs:label "Charcot-Marie-Tooth disease type 4B2" MONDO:0014698 rdfs:label "microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome" FOODON:03420116 rdfs:label "part of organism"@en -UBERON:0009953 rdfs:label "post-embryonic organism" MONDO:0020658 rdfs:label "infiltrating ureter transitional cell carcinoma" +UBERON:0009953 rdfs:label "post-embryonic organism" MONDO:0013675 rdfs:label "multiple mitochondrial dysfunctions syndrome 2" MONDO:0012421 rdfs:label "autosomal recessive nonsyndromic hearing loss 44" GO:0015923 rdfs:label "mannosidase activity" CHEBI:35508 rdfs:label "steroid fundamental parent" MONDO:0001394 rdfs:label "chronic erythremia" UBERON:0000400 rdfs:label "jejunal epithelium" -http://identifiers.org/hgnc/10274 rdfs:label "RP2" MONDO:0100186 rdfs:label "GTP cyclohydrolase I deficiency with hyperphenylalaninemia" +http://identifiers.org/hgnc/10274 rdfs:label "RP2" UBERON:0004142 rdfs:label "outflow tract septum" MONDO:0044221 rdfs:label "obsolete blood group--lutheran inhibitor" http://identifiers.org/hgnc/10664 rdfs:label "CWC27" @@ -21420,8 +21430,8 @@ MONDO:0019569 rdfs:label "Cockayne syndrome type 1" UBERON:8410033 rdfs:label "lymph node vein" MONDO:0023037 rdfs:label "obsolete elongated styloid process syndrome" http://identifiers.org/hgnc/6440 rdfs:label "KRT3" -http://identifiers.org/hgnc/11934 rdfs:label "TNFSF4" MONDO:0010569 rdfs:label "X-linked complicated corpus callosum dysgenesis" +http://identifiers.org/hgnc/11934 rdfs:label "TNFSF4" MONDO:0017285 rdfs:label "penoscrotal transposition" MONDO:0008166 rdfs:label "ovalocytosis, hereditary hemolytic, with defective erythropoiesis" UBERON:0004782 rdfs:label "gastrointestinal system serosa" @@ -21465,8 +21475,8 @@ MONDO:0002342 rdfs:label "chondromalacia" MONDO:0100431 rdfs:label "migraine without aura" http://identifiers.org/hgnc/12592 rdfs:label "UROS" MONDO:0017675 rdfs:label "punctate palmoplantar keratoderma" -MONDO:0043075 rdfs:label "neuroaxonal dystrophy renal tubular acidosis" GO:0016831 rdfs:label "carboxy-lyase activity" +MONDO:0043075 rdfs:label "neuroaxonal dystrophy renal tubular acidosis" GO:0032108 rdfs:label "negative regulation of response to nutrient levels" MONDO:0013107 rdfs:label "atopic dermatitis 7" NCBITaxon:11103 rdfs:label "Hepacivirus C" @@ -21512,8 +21522,8 @@ CL:0000003 rdfs:label "native cell" http://identifiers.org/hgnc/3420 rdfs:label "EPS8" MONDO:0011683 rdfs:label "oculocutaneous albinism type 4" MONDO:0011336 rdfs:label "familial hemophagocytic lymphohistiocytosis 4" -NCBITaxon:2497569 rdfs:label "Negarnaviricota" CHEBI:52090 rdfs:label "methoxide" +NCBITaxon:2497569 rdfs:label "Negarnaviricota" FOODON:03315468 rdfs:label "shellfish meat (whole or parts)"@en MONDO:0011704 rdfs:label "glaucoma 1, open angle, B" MONDO:0010934 rdfs:label "obsolete DFNB5" @@ -21744,8 +21754,8 @@ MONDO:0000903 rdfs:label "myoclonus-dystonia syndrome" PCO:0000002 rdfs:label "ecological community"@en http://identifiers.org/hgnc/6717 rdfs:label "LTBP4" UBERON:0005332 rdfs:label "mesonephric S-shaped body" -MONDO:0018592 rdfs:label "cutaneous polyarteritis nodosa" CL:2000017 rdfs:label "fibroblast of peridontal ligament" +MONDO:0018592 rdfs:label "cutaneous polyarteritis nodosa" MONDO:0015418 rdfs:label "lateral facial cleft" MONDO:0009126 rdfs:label "duodenal atresia" MONDO:0016976 rdfs:label "well-differentiated thymic neuroendocrine carcinoma" @@ -21777,8 +21787,8 @@ MONDO:0006147 rdfs:label "chronic eosinophilic leukemia, not otherwise specified GO:1903488 rdfs:label "negative regulation of lactation" MONDO:0006804 rdfs:label "inflammatory breast carcinoma" MONDO:0015817 rdfs:label "aggressive primary cutaneous T-cell lymphoma" -UBERON:0010675 rdfs:label "manual digit 1 phalanx cartilage element" MONDO:0040502 rdfs:label "glucocorticoid deficiency 5" +UBERON:0010675 rdfs:label "manual digit 1 phalanx cartilage element" MONDO:0013186 rdfs:label "Noonan syndrome 6" MONDO:0037739 rdfs:label "benign neoplasm of cauda equina" MONDO:0000658 rdfs:label "obsolete mu chain disease" @@ -21793,8 +21803,8 @@ HP:0410043 rdfs:label "Abnormal neural tube morphology" CHEBI:24433 rdfs:label "group" MONDO:0013023 rdfs:label "orofacial cleft 12" MONDO:0007588 rdfs:label "extrasystoles-short stature-hyperpigmentation-microcephaly syndrome" -HP:0003202 rdfs:label "Skeletal muscle atrophy" UBERON:0009125 rdfs:label "petrosal placode" +HP:0003202 rdfs:label "Skeletal muscle atrophy" http://identifiers.org/hgnc/29670 rdfs:label "GNPTAB" http://identifiers.org/hgnc/11013 rdfs:label "SLC30A2" MONDO:0009406 rdfs:label "hypertrichotic osteochondrodysplasia Cantu type" @@ -21835,8 +21845,8 @@ MONDO:0019056 rdfs:label "neuromuscular disease" MONDO:0005658 rdfs:label "Astroviridae infectious disease" MONDO:0002407 rdfs:label "capillary hemangioma" MONDO:0014822 rdfs:label "15q14 microdeletion syndrome" -http://identifiers.org/hgnc/7979 rdfs:label "NR3C2" MONDO:0022405 rdfs:label "retinal ciliopathy due to mutation in nephronophthisis gene" +http://identifiers.org/hgnc/7979 rdfs:label "NR3C2" GO:0030054 rdfs:label "cell junction" http://identifiers.org/hgnc/8925 rdfs:label "PHKA1" MONDO:0017012 rdfs:label "partial duplication of the short arm of chromosome 1" @@ -21847,8 +21857,8 @@ MONDO:0000023 rdfs:label "infantile liver failure" MONDO:0012526 rdfs:label "hereditary angioedema type 3" MONDO:0019392 rdfs:label "syringocystadenoma papilliferum" MONDO:0007837 rdfs:label "Johnson neuroectodermal syndrome" -MONDO:0700003 rdfs:label "obstetric disorder" UBERON:0007237 rdfs:label "1st arch mandibular component" +MONDO:0700003 rdfs:label "obstetric disorder" MONDO:0018195 rdfs:label "obsolete non-seminomatous germ cell tumor of testis" MONDO:0016807 rdfs:label "pure mitochondrial myopathy" MONDO:0043303 rdfs:label "hyperacusis" @@ -21893,9 +21903,9 @@ MONDO:0000519 rdfs:label "corpus callosum oligodendroglioma" UBERON:0012466 rdfs:label "extraembryonic cavity" MONDO:0024355 rdfs:label "respiratory tract infectious disorder" MONDO:0003294 rdfs:label "pericardium leiomyoma" +UBERON:0001499 rdfs:label "muscle of arm" MONDO:0700107 rdfs:label "chromosome 19q13.11 deletion syndrome, distal" MONDO:0011476 rdfs:label "MHC class I deficiency" -UBERON:0001499 rdfs:label "muscle of arm" MONDO:0014699 rdfs:label "intellectual disability, autosomal dominant 40" MONDO:0001982 rdfs:label "Niemann-Pick disease" MONDO:0013676 rdfs:label "obsolete hypermethioninemia due to adenosine kinase deficiency" @@ -21933,11 +21943,11 @@ GO:0015267 rdfs:label "channel activity" CHR:9606-chr22q11.2 rdfs:label "22q11.2 (Human)" MONDO:0020659 rdfs:label "upper tract urothelial carcinoma" CL:0000225 rdfs:label "anucleate cell" -UBERON:0005206 rdfs:label "choroid plexus stroma" MONDO:0014291 rdfs:label "autosomal dominant nonsyndromic hearing loss 54" MONDO:0010347 rdfs:label "intellectual disability, X-linked 84" -http://identifiers.org/hgnc/3642 rdfs:label "FDXR" +UBERON:0005206 rdfs:label "choroid plexus stroma" HP:0000002 rdfs:label "Abnormality of body height" +http://identifiers.org/hgnc/3642 rdfs:label "FDXR" MONDO:0020412 rdfs:label "congenital patent ductus arteriosus aneurysm" UBERON:0004490 rdfs:label "cardiac muscle tissue of atrium" NBO:0000347 rdfs:label "gross motor coordination" @@ -21972,8 +21982,8 @@ MONDO:0016920 rdfs:label "obsolete partial deletion of the long arm of chromosom GO:0016832 rdfs:label "aldehyde-lyase activity" UBERON:0009471 rdfs:label "dorsum of tongue" MONDO:0054565 rdfs:label "short-rib thoracic dysplasia 17 with or without polydactyly" -MONDO:0008553 rdfs:label "platelet-type bleeding disorder 17" MONDO:0001761 rdfs:label "favism" +MONDO:0008553 rdfs:label "platelet-type bleeding disorder 17" UBERON:0014907 rdfs:label "intersomitic vessel" MONDO:0013108 rdfs:label "leukemia, acute lymphocytic, susceptibility to, 1" MONDO:0000708 rdfs:label "Crohn jejunoileitis" @@ -21982,14 +21992,14 @@ GO:0120034 rdfs:label "positive regulation of plasma membrane bounded cell proje MONDO:0012392 rdfs:label "2-methylbutyryl-CoA dehydrogenase deficiency" MONDO:0004133 rdfs:label "pituitary gland mixed eosinophil-basophil adenoma" MONDO:0007356 rdfs:label "Lynch syndrome 1" -MONDO:0007532 rdfs:label "Electroencephalographic peculiarity: occipital slow beta waves" +MONDO:0007532 rdfs:label "obsolete Electroencephalographic peculiarity: occipital slow beta waves" CL:0000529 rdfs:label "pigmented epithelial cell" MONDO:0016274 rdfs:label "obsolete rare cancer of cervix uteri" MONDO:0010757 rdfs:label "widow's peak syndrome" GO:0051589 rdfs:label "negative regulation of neurotransmitter transport" MONDO:0004341 rdfs:label "colloid carcinoma of the pancreas" -MONDO:0019650 rdfs:label "idiopathic steroid-sensitive nephrotic syndrome with minimal change" MONDO:0002198 rdfs:label "vulvar glandular neoplasm" +MONDO:0019650 rdfs:label "idiopathic steroid-sensitive nephrotic syndrome with minimal change" MONDO:0054752 rdfs:label "multiple synostoses syndrome 4" MONDO:0003144 rdfs:label "medulloepithelioma" http://identifiers.org/hgnc/7173 rdfs:label "MMP3" @@ -22080,8 +22090,8 @@ MONDO:0043923 rdfs:label "lichen planus, oral" MONDO:0004576 rdfs:label "obsolete pellagra" NCBITaxon:2501931 rdfs:label "Orthocoronavirinae" CL:0002209 rdfs:label "intermediate epitheliocyte" -UBERON:0001421 rdfs:label "pectoral girdle region" MONDO:0019885 rdfs:label "distal trisomy 11q" +UBERON:0001421 rdfs:label "pectoral girdle region" MONDO:0014269 rdfs:label "combined oxidative phosphorylation deficiency 19" MONDO:0008332 rdfs:label "pseudo-von Willebrand disease" MONDO:0009890 rdfs:label "Gillessen-Kaesbach-Nishimura syndrome" @@ -22117,10 +22127,10 @@ MONDO:0019252 rdfs:label "obsolete other metabolic disease with skin involvement NCBITaxon:7586 rdfs:label "Echinodermata" MONDO:0001258 rdfs:label "vertebral artery occlusion" GO:0003097 rdfs:label "renal water transport" -GO:0043412 rdfs:label "macromolecule modification" HsapDv:0000133 rdfs:label "39-year-old human stage" MONDO:0002204 rdfs:label "transient arthritis" MONDO:0001434 rdfs:label "inflammatory spondylopathy" +GO:0043412 rdfs:label "macromolecule modification" MONDO:0007337 rdfs:label "cleft palate-lateral synechia syndrome" MONDO:0011339 rdfs:label "hereditary spastic paraplegia 8" MONDO:0018904 rdfs:label "primary membranoproliferative glomerulonephritis" @@ -22128,11 +22138,11 @@ MONDO:0016743 rdfs:label "tumor of meninges" MONDO:0004634 rdfs:label "vein disorder" UBERON:0010580 rdfs:label "pedal digit 1 phalanx pre-cartilage condensation" NCBITaxon:2039 rdfs:label "Tropheryma whipplei" +UBERON:0004399 rdfs:label "epiphysis of fifth metatarsal bone" MONDO:0004810 rdfs:label "acute ethmoiditis" PATO:0000060 rdfs:label "spatial pattern" -UBERON:0004399 rdfs:label "epiphysis of fifth metatarsal bone" -MONDO:0000214 rdfs:label "hypermanganesemia with dystonia" MONDO:0014376 rdfs:label "intellectual disability, autosomal dominant 27" +MONDO:0000214 rdfs:label "hypermanganesemia with dystonia" MONDO:0003437 rdfs:label "occult small cell lung carcinoma" http://identifiers.org/hgnc/317 rdfs:label "AFP" MONDO:0020603 rdfs:label "X-linked chondrodysplasia punctata 2" @@ -22147,9 +22157,9 @@ ENVO:09200002 rdfs:label "environmental system process quality" GO:0010955 rdfs:label "negative regulation of protein processing" MONDO:0005379 rdfs:label "neurotic disorder" UBERON:0003594 rdfs:label "pelvis connective tissue" +UBERON:0001013 rdfs:label "adipose tissue" NCBITaxon:3760 rdfs:label "Prunus persica" MONDO:0000422 rdfs:label "obsolete inborn glycogen metabolism disorder" -UBERON:0001013 rdfs:label "adipose tissue" MONDO:0006325 rdfs:label "ocular melanoma" MONDO:0004164 rdfs:label "lymphoepithelioma-like acinar prostate adenocarcinoma" MONDO:0015731 rdfs:label "high anorectal malformation" @@ -22202,7 +22212,7 @@ MONDO:0019183 rdfs:label "obsolete inherited odontologic disease" MONDO:0001037 rdfs:label "ring corneal ulcer" UBERON:0017163 rdfs:label "skin bony tubercle" MONDO:0002595 rdfs:label "vaccinia" -MONDO:0009829 rdfs:label "pallidal degeneration, progressive, with retinitis pigmentosa" +MONDO:0009829 rdfs:label "obsolete pallidal degeneration, progressive, with retinitis pigmentosa" MONDO:0032735 rdfs:label "cataract 48" UBERON:0005215 rdfs:label "kidney interstitium" MONDO:0017620 rdfs:label "congenital sucrase-isomaltase deficiency without starch intolerance" @@ -22303,8 +22313,8 @@ MONDO:0003429 rdfs:label "functioning pituitary gland adenoma" http://identifiers.org/hgnc/4570 rdfs:label "GRHPR" MONDO:0002406 rdfs:label "dermatitis" MONDO:0010252 rdfs:label "intellectual disability, X-linked, with panhypopituitarism" -MONDO:0022404 rdfs:label "retinal ciliopathy due to mutation in usher gene" MONDO:0000245 rdfs:label "tinea imbricata" +MONDO:0022404 rdfs:label "retinal ciliopathy due to mutation in usher gene" MONDO:0006148 rdfs:label "obsolete chronic neutrophilic leukemia" MONDO:0017715 rdfs:label "3-hydroxyacyl-CoA dehydrogenase deficiency" MONDO:0032851 rdfs:label "intellectual developmental disorder with impaired language and dysmorphic facies" @@ -22323,7 +22333,7 @@ GO:0045669 rdfs:label "positive regulation of osteoblast differentiation" GO:0043235 rdfs:label "receptor complex" http://identifiers.org/hgnc/9751 rdfs:label "QARS1" MONDO:0001647 rdfs:label "benign renovascular hypertension" -MONDO:0700130 rdfs:label "partial Trisomy 21" +MONDO:0700130 rdfs:label "partial trisomy 21" MONDO:0003847 rdfs:label "Mendelian disease" MONDO:0005403 rdfs:label "obsolete neonatal systemic lupus erthematosus" MONDO:0007589 rdfs:label "exudative vitreoretinopathy 1" @@ -22336,8 +22346,8 @@ HP:0000926 rdfs:label "Platyspondyly" MONDO:0013833 rdfs:label "keratoconus 7" MONDO:0021416 rdfs:label "polyp of gallbladder" PATO:0002302 rdfs:label "decreased process quality" -http://identifiers.org/hgnc/9879 rdfs:label "RASGRP2" MONDO:0016023 rdfs:label "obsolete ocular coloboma" +http://identifiers.org/hgnc/9879 rdfs:label "RASGRP2" HP:0009826 rdfs:label "Limb undergrowth" MONDO:0017581 rdfs:label "familial infantile gigantism" http://identifiers.org/hgnc/10432 rdfs:label "RPS6KA3" @@ -22415,11 +22425,11 @@ GO:0010511 rdfs:label "regulation of phosphatidylinositol biosynthetic process" MONDO:0019057 rdfs:label "obsolete rare constitutional aplastic anemia" MONDO:0002408 rdfs:label "hereditary hyperbilirubinemia" MONDO:0014823 rdfs:label "hypotonia, infantile, with psychomotor retardation and characteristic facies 3" -MONDO:0022406 rdfs:label "obsolete aksu von stockhausen syndrome" NCBITaxon:32523 rdfs:label "Tetrapoda" +MONDO:0022406 rdfs:label "obsolete aksu von stockhausen syndrome" MONDO:0030059 rdfs:label "developmental and epileptic encephalopathy, 87" -MONDO:0017013 rdfs:label "trisomy 8p" http://identifiers.org/hgnc/14004 rdfs:label "ANO3" +MONDO:0017013 rdfs:label "trisomy 8p" CL:0002576 rdfs:label "perineural cell" MONDO:0004838 rdfs:label "orthostatic proteinuria" MONDO:0000904 rdfs:label "complex cortical dysplasia with other brain malformations" @@ -22451,8 +22461,8 @@ GO:0045834 rdfs:label "positive regulation of lipid metabolic process" UBERON:0000012 rdfs:label "somatic nervous system" UBERON:0006530 rdfs:label "seminal fluid" HP:0100716 rdfs:label "Self-injurious behavior" -MONDO:0015359 rdfs:label "autosomal dominant hereditary demyelinating motor and sensory neuropathy" BFO:0000144 rdfs:label "process profile"@en +MONDO:0015359 rdfs:label "autosomal dominant hereditary demyelinating motor and sensory neuropathy" MONDO:0019790 rdfs:label "neuroleptic malignant syndrome" MONDO:0013259 rdfs:label "Oguchi disease-2" MONDO:0015114 rdfs:label "obsolete rare parenchymal liver disease" @@ -22478,8 +22488,8 @@ http://identifiers.org/hgnc/2194 rdfs:label "COL17A1" GO:0010032 rdfs:label "meiotic chromosome condensation" MONDO:0013677 rdfs:label "Emery-Dreifuss muscular dystrophy 7, autosomal dominant" UBERON:0002446 rdfs:label "patella" -MONDO:0006671 rdfs:label "Bacteroides infectious disease" MONDO:0018866 rdfs:label "Aicardi-Goutieres syndrome" +MONDO:0006671 rdfs:label "Bacteroides infectious disease" UBERON:0000402 rdfs:label "nasal vestibule" UBERON:5003631 rdfs:label "pedal digit 1 plus metapodial segment" MONDO:0100188 rdfs:label "combined ApoA-I and ApoC-III deficiency" @@ -22496,9 +22506,9 @@ http://identifiers.org/hgnc/9204 rdfs:label "PON1" MONDO:0005776 rdfs:label "gnathomiasis" UBERON:0034717 rdfs:label "integumental taste bud" MONDO:0020530 rdfs:label "mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency" +UBERON:0003887 rdfs:label "intraembryonic coelom" HsapDv:0000103 rdfs:label "9-year-old human stage" CHEBI:26605 rdfs:label "saponin" -UBERON:0003887 rdfs:label "intraembryonic coelom" http://identifiers.org/hgnc/21197 rdfs:label "FA2H" UBERON:0010912 rdfs:label "subdivision of skeleton" MONDO:0008030 rdfs:label "facioscapulohumeral muscular dystrophy 1" @@ -22528,8 +22538,8 @@ UBERON:0000929 rdfs:label "pharyngeal branch of vagus nerve" MONDO:0019393 rdfs:label "idiopathic malabsorption due to bile acid synthesis defects" MONDO:0021668 rdfs:label "obsolete disorder involving pain" MONDO:0025159 rdfs:label "pneumonia of swine, mycoplasmal" -MONDO:0016275 rdfs:label "adenocarcinoma of cervix uteri" MONDO:0019222 rdfs:label "inborn disorder of methionine cycle and sulfur amino acid metabolism" +MONDO:0016275 rdfs:label "adenocarcinoma of cervix uteri" MONDO:0010758 rdfs:label "Wieacker-Wolff syndrome" MONDO:0700004 rdfs:label "idiopathic vs non-idiopathic" UBERON:0007845 rdfs:label "regular connective tissue" @@ -22551,9 +22561,9 @@ UBERON:0014908 rdfs:label "cerebellopontine angle" MONDO:0008554 rdfs:label "thrombocythemia 1" MONDO:0001762 rdfs:label "dentine erosion" MONDO:0014667 rdfs:label "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3" -MONDO:0013109 rdfs:label "leukemia, acute lymphocytic, susceptibility to, 2" http://identifiers.org/hgnc/21869 rdfs:label "AGK" CHEBI:50047 rdfs:label "organic amino compound" +MONDO:0013109 rdfs:label "leukemia, acute lymphocytic, susceptibility to, 2" MONDO:0000709 rdfs:label "Crohn ileitis" MONDO:0009500 rdfs:label "kuru, susceptibility to" MONDO:0008730 rdfs:label "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency" @@ -22628,9 +22638,9 @@ MONDO:0009891 rdfs:label "acquired polycythemia vera" MONDO:0002752 rdfs:label "ovarian adenocarcinoma" http://identifiers.org/hgnc/886 rdfs:label "ATRX" UBERON:0004469 rdfs:label "musculature of back" -MONDO:0024950 rdfs:label "horse disease" MONDO:0007136 rdfs:label "genetic anorectal anomalies" MONDO:0013383 rdfs:label "Hirschsprung disease, susceptibility to, 3" +MONDO:0024950 rdfs:label "horse disease" GO:0032689 rdfs:label "negative regulation of interferon-gamma production" HP:0100886 rdfs:label "Abnormality of globe location" MONDO:0100025 rdfs:label "epilepsy of infancy with migrating focal seizures" @@ -22699,8 +22709,8 @@ MONDO:0020604 rdfs:label "X-linked dominant disease" http://identifiers.org/hgnc/6444 rdfs:label "KRT6B" UBERON:0010299 rdfs:label "scleral mesenchyme" MONDO:0011850 rdfs:label "migraine with or without aura, susceptibility to, 5" -MONDO:0006814 rdfs:label "iritis" UBERON:0035174 rdfs:label "right ear" +MONDO:0006814 rdfs:label "iritis" http://identifiers.org/hgnc/13176 rdfs:label "IKZF1" MONDO:0024482 rdfs:label "eccrine sweat gland hamartoma" http://identifiers.org/hgnc/10610 rdfs:label "CCL11" @@ -22768,10 +22778,10 @@ MONDO:0003670 rdfs:label "posteroinferior myocardial infarction" CHEBI:33247 rdfs:label "organic group" GO:0044403 rdfs:label "biological process involved in symbiotic interaction" MONDO:0009032 rdfs:label "cranioectodermal dysplasia" -UBERON:0005216 rdfs:label "optic eminence surface ectoderm" CL:0002460 rdfs:label "CD8alpha-negative thymic conventional dendritic cell" -MONDO:0018109 rdfs:label "fulminant viral hepatitis" +UBERON:0005216 rdfs:label "optic eminence surface ectoderm" MONDO:0004414 rdfs:label "tamoxifen-related endometrial lesion" +MONDO:0018109 rdfs:label "fulminant viral hepatitis" CL:0002546 rdfs:label "embryonic blood vessel endothelial progenitor cell" MONDO:0005972 rdfs:label "streptococcal pneumonia" UBERON:0010360 rdfs:label "pharyngeal arch mesenchyme from head mesenchyme" @@ -22865,10 +22875,10 @@ CHEBI:52625 rdfs:label "inorganic hydroxy compound" http://identifiers.org/hgnc/12633 rdfs:label "USP9Y" UBERON:0003037 rdfs:label "septum" MONDO:0000246 rdfs:label "obsolete la Crosse encephalitis" -MONDO:0032852 rdfs:label "myopathy, congenital, with structured cores and z-line abnormalities" MONDO:0006149 rdfs:label "clear cell papillary cystadenoma" MONDO:0001320 rdfs:label "ring staphyloma" MONDO:0017716 rdfs:label "disorder of carnitine cycle and carnitine transport" +MONDO:0032852 rdfs:label "myopathy, congenital, with structured cores and z-line abnormalities" MONDO:0015442 rdfs:label "obsolete hereditary breast and ovarian cancer syndrome" GO:0015980 rdfs:label "energy derivation by oxidation of organic compounds" MONDO:0004837 rdfs:label "neurofibroma of the esophagus" @@ -22902,11 +22912,11 @@ MONDO:0100017 rdfs:label "pityriasis rubra pilaris" http://identifiers.org/hgnc/9082 rdfs:label "PLOD2" http://identifiers.org/hgnc/6696 rdfs:label "LRP4" UBERON:0004849 rdfs:label "respiratory system venous endothelium" -UBERON:0000163 rdfs:label "embryonic cloaca" MONDO:0100384 rdfs:label "acute myeloid leukemia, t(11;19)(q23;p13.1)" MONDO:0019400 rdfs:label "obsolete testicular seminomatous germ cell tumor" GO:2000082 rdfs:label "regulation of L-ascorbic acid biosynthetic process" GO:0048103 rdfs:label "somatic stem cell division" +UBERON:0000163 rdfs:label "embryonic cloaca" MONDO:0023176 rdfs:label "formaldehyde poisoning" GO:0045717 rdfs:label "negative regulation of fatty acid biosynthetic process" MONDO:0008138 rdfs:label "syndromic orbital border hypoplasia" @@ -22990,8 +23000,8 @@ http://identifiers.org/hgnc/11594 rdfs:label "TBX15" MONDO:0004839 rdfs:label "obsolete neurofibroma" MONDO:0000905 rdfs:label "obsolete cortisone reductase deficiency" MONDO:0006808 rdfs:label "intracranial arterial disease" -UBERON:0005334 rdfs:label "oral lamina propria" http://identifiers.org/hgnc/6015 rdfs:label "IL4R" +UBERON:0005334 rdfs:label "oral lamina propria" http://identifiers.org/hgnc/7573 rdfs:label "MYH3" MONDO:0019791 rdfs:label "recessive mitochondrial ataxia syndrome" UBERON:0010679 rdfs:label "manual digit 5 phalanx cartilage element" @@ -23058,7 +23068,7 @@ CHEBI:33913 rdfs:label "corrinoid" MONDO:0032728 rdfs:label "Charcot-Marie-Tooth disease, axonal, type 2EE" CL:0002148 rdfs:label "dental pulp cell" UBERON:0005208 rdfs:label "right atrium valve" -MONDO:0014826 rdfs:label "nucleoside diphosphate-linked moiety X Motif 15 deficiency" +MONDO:0014826 rdfs:label "obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency" UBERON:0005399 rdfs:label "male reproductive gland" MONDO:0003530 rdfs:label "aggressive digital papillary adenocarcinoma" UBERON:0004145 rdfs:label "outflow tract" @@ -23089,9 +23099,9 @@ MONDO:0030875 rdfs:label "frontotemporal dementia and/or amyotrophic lateral scl MONDO:0013899 rdfs:label "Weill-Marchesani syndrome 3" MONDO:0012645 rdfs:label "glaucoma 1, open angle, N" MONDO:0017288 rdfs:label "DICER1 syndrome" +UBERON:0008962 rdfs:label "forelimb bone" http://identifiers.org/hgnc/4421 rdfs:label "GNRHR" MONDO:0004629 rdfs:label "subacute delirium" -UBERON:0008962 rdfs:label "forelimb bone" http://identifiers.org/hgnc/5394 rdfs:label "CFI" MONDO:0011518 rdfs:label "Wiedemann-Steiner syndrome" http://identifiers.org/hgnc/9509 rdfs:label "PSEN2" @@ -23104,8 +23114,8 @@ NCBITaxon:106179 rdfs:label "phagocytophilum group" HP:0011390 rdfs:label "Morphological abnormality of the inner ear" FOODON:00003203 rdfs:label "food harvesting"@en MONDO:0002974 rdfs:label "cervical cancer" -CHEBI:55323 rdfs:label "antidiarrhoeal drug" UBERON:0008408 rdfs:label "distal tubular epithelium" +CHEBI:55323 rdfs:label "antidiarrhoeal drug" MONDO:0017014 rdfs:label "interstitial lung disease specific to childhood" CL:0002577 rdfs:label "placental epithelial cell" MONDO:0004135 rdfs:label "subacute lymphocytic thyroiditis" @@ -23141,8 +23151,8 @@ MONDO:0015115 rdfs:label "obsolete rare genetic metabolic liver disease" MONDO:0012237 rdfs:label "nemaline myopathy 6" MONDO:0009711 rdfs:label "congenital fiber-type disproportion myopathy" SO:0000298 rdfs:label "recombination_feature" -MONDO:0022178 rdfs:label "chromosome 13q-mosaicism" MONDO:0015872 rdfs:label "giant adenofibroma of the breast" +MONDO:0022178 rdfs:label "chromosome 13q-mosaicism" http://identifiers.org/hgnc/37227 rdfs:label "KBTBD13" NCBITaxon:693766 rdfs:label "Anemiaceae" GO:0071214 rdfs:label "cellular response to abiotic stimulus" @@ -23243,8 +23253,8 @@ HsapDv:0000135 rdfs:label "41-year-old human stage" MONDO:0018906 rdfs:label "follicular lymphoma" MONDO:0016745 rdfs:label "diffuse leptomeningeal melanocytosis" HP:0010988 rdfs:label "Abnormality of the extrinsic pathway" -MONDO:0000216 rdfs:label "obsolete congenital bilateral aplasia of vas deferens" MONDO:0013750 rdfs:label "atrial septal defect 8" +MONDO:0000216 rdfs:label "obsolete congenital bilateral aplasia of vas deferens" MONDO:0003439 rdfs:label "urinary bladder villous adenoma" MONDO:0002416 rdfs:label "ethmoid sinus squamous cell carcinoma" MONDO:0025404 rdfs:label "coronaviral enteritis of turkeys" @@ -23472,8 +23482,8 @@ MONDO:0003999 rdfs:label "juvenile pilocytic astrocytoma" MONDO:0007450 rdfs:label "neurohypophyseal diabetes insipidus" GO:0071707 rdfs:label "immunoglobulin heavy chain V-D-J recombination" GO:0051054 rdfs:label "positive regulation of DNA metabolic process" -http://identifiers.org/hgnc/18758 rdfs:label "BBS7" GO:0070991 rdfs:label "medium-chain-acyl-CoA dehydrogenase activity" +http://identifiers.org/hgnc/18758 rdfs:label "BBS7" UBERON:0006601 rdfs:label "presumptive ectoderm" http://identifiers.org/hgnc/9083 rdfs:label "PLOD3" http://identifiers.org/hgnc/6697 rdfs:label "LRP5" @@ -23729,8 +23739,8 @@ CHEBI:33780 rdfs:label "beryllium molecular entity" MONDO:0000796 rdfs:label "obsolete cow milk allergy" NCBITaxon:474019 rdfs:label "Sarcoptinae" UBERON:0004786 rdfs:label "gastrointestinal system mucosa" -MONDO:0011519 rdfs:label "autosomal dominant nonsyndromic hearing loss 23" UBERON:0003416 rdfs:label "mesenchyme of tongue" +MONDO:0011519 rdfs:label "autosomal dominant nonsyndromic hearing loss 23" CL:0000228 rdfs:label "multinucleate cell" http://identifiers.org/hgnc/4814 rdfs:label "KALRN" MONDO:0016923 rdfs:label "partial duplication of chromosome 3" @@ -23774,8 +23784,8 @@ GO:0030885 rdfs:label "regulation of myeloid dendritic cell activation" MONDO:0006933 rdfs:label "pulmonary plasma cell granuloma" MONDO:0008556 rdfs:label "thrombocytopenia, cyclic" UBERON:0005461 rdfs:label "levator scapulae muscle" -MONDO:0018621 rdfs:label "lymphoplasmacytic lymphoma without IgM production" http://identifiers.org/hgnc/21143 rdfs:label "ZBTB24" +MONDO:0018621 rdfs:label "lymphoplasmacytic lymphoma without IgM production" MONDO:0009502 rdfs:label "pyruvate dehydrogenase E2 deficiency" MONDO:0014669 rdfs:label "cone-rod dystrophy 21" MONDO:0003462 rdfs:label "papillary adenofibroma" @@ -24030,19 +24040,19 @@ MONDO:0012842 rdfs:label "melanoma, cutaneous malignant, susceptibility to, 7" GO:0071708 rdfs:label "immunoglobulin light chain V-J recombination" MONDO:0015032 rdfs:label "intraneural perineurioma" SO:0001217 rdfs:label "protein_coding_gene" -UBERON:0013140 rdfs:label "systemic vein" MONDO:0700015 rdfs:label "chromosome 8 disorder" MONDO:0012154 rdfs:label "myopia 6" http://identifiers.org/hgnc/11602 rdfs:label "TBX3" -UBERON:0002006 rdfs:label "cortex of lymph node" +UBERON:0013140 rdfs:label "systemic vein" MONDO:0001890 rdfs:label "pulp erosion" http://identifiers.org/hgnc/20439 rdfs:label "UPF3B" MONDO:0019623 rdfs:label "hereditary angioedema" http://identifiers.org/hgnc/32456 rdfs:label "ALG11" CHEBI:16294 rdfs:label "barbituric acid" +UBERON:0002006 rdfs:label "cortex of lymph node" MONDO:0000837 rdfs:label "bone resorption disease" -MONDO:0014959 rdfs:label "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant" UBERON:0001290 rdfs:label "proximal straight tubule" +MONDO:0014959 rdfs:label "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant" MONDO:0014490 rdfs:label "ketoacidosis due to monocarboxylate transporter-1 deficiency" MONDO:0018426 rdfs:label "AXIN2-related attenuated familial adenomatous polyposis" GO:0061337 rdfs:label "cardiac conduction" @@ -24060,8 +24070,8 @@ MONDO:0011395 rdfs:label "cone-rod dystrophy 3" MONDO:0012037 rdfs:label "intellectual disability, autosomal recessive 3" MONDO:0013595 rdfs:label "hyperbiliverdinemia" UBERON:0017261 rdfs:label "intertarsal sesamoid" -http://identifiers.org/hgnc/20626 rdfs:label "CHD7" MONDO:0019810 rdfs:label "toxic epidermal necrolysis" +http://identifiers.org/hgnc/20626 rdfs:label "CHD7" MONDO:0022060 rdfs:label "calloso-genital dysplasia" MONDO:0013424 rdfs:label "3p- syndrome" UBERON:0003447 rdfs:label "digit nerve of manus" @@ -24131,8 +24141,8 @@ ECTO:0000006 rdfs:label "exposure to ultraviolet radiation" MONDO:0009863 rdfs:label "BH4-deficient hyperphenylalaninemia A" http://identifiers.org/hgnc/4189 rdfs:label "GCDH" MONDO:0044626 rdfs:label "female infertility due to oocyte meiotic arrest" -MONDO:0014418 rdfs:label "myopathy, centronuclear, 5" CHEBI:51356 rdfs:label "penicillinate anion" +MONDO:0014418 rdfs:label "myopathy, centronuclear, 5" MONDO:0013027 rdfs:label "posterior amorphous corneal dystrophy" MONDO:0002763 rdfs:label "urethral verrucous carcinoma" MONDO:0004052 rdfs:label "rectal cloacogenic carcinoma" @@ -24205,17 +24215,17 @@ http://identifiers.org/hgnc/2394 rdfs:label "CRYBA1" MONDO:0018457 rdfs:label "obsolete rare genetic bone development disorder" MONDO:0004950 rdfs:label "gastric carcinoma" UBERON:0016565 rdfs:label "cerebral blood vessel" -MONDO:0014692 rdfs:label "retinitis pigmentosa 74" GO:0051953 rdfs:label "negative regulation of amine transport" +MONDO:0014692 rdfs:label "retinitis pigmentosa 74" GO:0001523 rdfs:label "retinoid metabolic process" http://identifiers.org/hgnc/2652 rdfs:label "CYP7B1" http://identifiers.org/hgnc/5201 rdfs:label "HS6ST1" CHEBI:58945 rdfs:label "organophosphate oxoanion" MONDO:0025369 rdfs:label "Nairobi sheep disease" http://identifiers.org/hgnc/16691 rdfs:label "TUBGCP4" -UBERON:0004552 rdfs:label "digital artery" MONDO:0019793 rdfs:label "autosomal dominant cerebellar ataxia type III" MONDO:0016499 rdfs:label "acute pandysautonomia" +UBERON:0004552 rdfs:label "digital artery" CHEBI:72813 rdfs:label "exopolysaccharide" MONDO:0008240 rdfs:label "6-phosphogluconolactonase deficiency" http://identifiers.org/hgnc/1382 rdfs:label "CA8" @@ -24234,9 +24244,9 @@ UBERON:0001212 rdfs:label "duodenal gland" MONDO:0001986 rdfs:label "Argyll Robertson pupil" UBERON:0014794 rdfs:label "pectoral appendage muscle" UBERON:0018116 rdfs:label "right renal pelvis" +UBERON:0000015 rdfs:label "non-material anatomical boundary" MPATH:603 rdfs:label "pathological anatomical entity" MONDO:0008954 rdfs:label "peroxisome biogenesis disorder 2A (Zellweger)" -UBERON:0000015 rdfs:label "non-material anatomical boundary" MONDO:0009900 rdfs:label "polysyndactyly-cardiac malformation syndrome" CHR:9606-chr8 rdfs:label "chromosome 8 (Human)" MONDO:0014750 rdfs:label "primary ciliary dyskinesia 33" @@ -24340,8 +24350,8 @@ MONDO:0035008 rdfs:label "isolated splenic vein thrombosis" GO:0030886 rdfs:label "negative regulation of myeloid dendritic cell activation" http://identifiers.org/hgnc/8157 rdfs:label "SIGMAR1" NCBITaxon:6281 rdfs:label "Onchocerca" -NCBITaxon:186817 rdfs:label "Bacillaceae" MONDO:0015570 rdfs:label "isolated congenital auditory ossicle malformation" +NCBITaxon:186817 rdfs:label "Bacillaceae" MONDO:0004660 rdfs:label "lung carcinoma in situ" GO:0008614 rdfs:label "pyridoxine metabolic process" http://identifiers.org/hgnc/21144 rdfs:label "DSE" @@ -24484,13 +24494,13 @@ UBERON:0035177 rdfs:label "abdominal part of esophagus" http://identifiers.org/hgnc/7584 rdfs:label "MYL3" MONDO:0024485 rdfs:label "papillary urothelial hyperplasia" UBERON:0035006 rdfs:label "preputial swelling of female" -UBERON:0003598 rdfs:label "manus connective tissue" GO:0010959 rdfs:label "regulation of metal ion transport" http://identifiers.org/hgnc/11824 rdfs:label "TINF2" GO:2000858 rdfs:label "regulation of aldosterone secretion" -UBERON:0001017 rdfs:label "central nervous system" +UBERON:0003598 rdfs:label "manus connective tissue" http://identifiers.org/hgnc/2590 rdfs:label "CYP11A1" MONDO:0000426 rdfs:label "autosomal dominant disease" +UBERON:0001017 rdfs:label "central nervous system" MONDO:0006329 rdfs:label "olfactory neuroblastoma" MONDO:0016152 rdfs:label "qualitative or quantitative defects of calpain" MONDO:0010635 rdfs:label "hypogonadotropic hypogonadism 1 with or without anosmia" @@ -24511,8 +24521,8 @@ MONDO:0015393 rdfs:label "nasal ganglioglioma" MONDO:0000741 rdfs:label "angular cheilitis" CL:2000078 rdfs:label "placental pericyte" UBERON:0002458 rdfs:label "spinal artery" -MONDO:0017593 rdfs:label "juvenile amyotrophic lateral sclerosis" GO:1903781 rdfs:label "positive regulation of cardiac conduction" +MONDO:0017593 rdfs:label "juvenile amyotrophic lateral sclerosis" MONDO:0004230 rdfs:label "adenomatoid tumor" MONDO:0009326 rdfs:label "congenital heart block" MONDO:0006683 rdfs:label "brachial plexus neuropathy" @@ -24552,8 +24562,8 @@ MONDO:0009035 rdfs:label "craniometaphyseal dysplasia, autosomal recessive" PATO:0015023 rdfs:label "decreased combustibility" UBERON:0005219 rdfs:label "hindbrain subarachnoid space" MONDO:0014837 rdfs:label "thrombocytopenia 6" -UBERON:0011574 rdfs:label "mesonephric duct lumen" MONDO:0032620 rdfs:label "mitochondrial complex 1 deficiency, nuclear type 15" +UBERON:0011574 rdfs:label "mesonephric duct lumen" SO:0001508 rdfs:label "alteration_attribute" MONDO:0011215 rdfs:label "osteocraniostenosis" MONDO:0014438 rdfs:label "Bardet-Biedl syndrome 10" @@ -24586,8 +24596,8 @@ HP:0100603 rdfs:label "Toxemia of pregnancy" UBERON:0014543 rdfs:label "lumbar division of spinal cord central canal" http://identifiers.org/hgnc/17358 rdfs:label "TPK1" MONDO:0006392 rdfs:label "rectal hyperplastic polyp" -MONDO:0005975 rdfs:label "suppurative otitis media" CL:0002549 rdfs:label "fibroblast of choroid plexus" +MONDO:0005975 rdfs:label "suppurative otitis media" MONDO:0002985 rdfs:label "obsolete pustulosis of palm and sole" MONDO:0017025 rdfs:label "Langerhans cell histiocytosis specific to childhood" UBERON:0003448 rdfs:label "manus nerve" @@ -24659,8 +24669,8 @@ GO:0071407 rdfs:label "cellular response to organic cyclic compound" MONDO:0003710 rdfs:label "ovarian mixed germ cell neoplasm" UBERON:0001917 rdfs:label "endothelium of artery" MONDO:0009200 rdfs:label "eyebrow duplication-syndactyly syndrome" -MONDO:0010477 rdfs:label "blepharophimosis - intellectual disability syndrome, MKB type" UBERON:0010224 rdfs:label "right pupil" +MONDO:0010477 rdfs:label "blepharophimosis - intellectual disability syndrome, MKB type" MONDO:0022978 rdfs:label "diaphragmatic hernia upper limb defects" GO:0050866 rdfs:label "negative regulation of cell activation" MONDO:0022607 rdfs:label "extraovarian Brenner tumor of the vagina" @@ -24686,10 +24696,10 @@ CL:0000995 rdfs:label "CD34-positive, CD38-positive common myeloid progenitor OR MONDO:0020041 rdfs:label "obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue" MONDO:0011059 rdfs:label "holoprosencephaly-craniosynostosis syndrome" MONDO:0013028 rdfs:label "adenosine monophosphate deaminase deficiency" +UBERON:0004301 rdfs:label "middle phalanx" MONDO:0014890 rdfs:label "PERCHING syndrome" MONDO:0004053 rdfs:label "bartholin gland squamous cell carcinoma" MONDO:0016248 rdfs:label "familial ovarian cancer" -UBERON:0004301 rdfs:label "middle phalanx" http://identifiers.org/hgnc/1663 rdfs:label "CD36" GO:0006591 rdfs:label "ornithine metabolic process" GO:0000262 rdfs:label "mitochondrial chromosome" @@ -24841,8 +24851,8 @@ MONDO:0014967 rdfs:label "heterotaxy, visceral, 8, autosomal" MONDO:0008675 rdfs:label "freeman-Sheldon syndrome" MONDO:0018740 rdfs:label "drug-induced methemoglobinemia" http://identifiers.org/hgnc/1689 rdfs:label "CD59" -MONDO:0001575 rdfs:label "chronic gonococcal salpingitis" UBERON:0002166 rdfs:label "endocardium of atrium" +MONDO:0001575 rdfs:label "chronic gonococcal salpingitis" MONDO:0007478 rdfs:label "autosomal dominant Kenny-Caffey syndrome" GO:0002087 rdfs:label "regulation of respiratory gaseous exchange by nervous system process" MONDO:0014343 rdfs:label "Desbuquois dysplasia 2" @@ -24885,8 +24895,8 @@ UBERON:0004553 rdfs:label "forelimb digital artery" http://identifiers.org/hgnc/815 rdfs:label "ATP2B2" MONDO:0009714 rdfs:label "myosclerosis" http://identifiers.org/hgnc/18286 rdfs:label "RAX2" -NCBITaxon:1781 rdfs:label "Mycobacterium marinum" GO:0140029 rdfs:label "exocytic process" +NCBITaxon:1781 rdfs:label "Mycobacterium marinum" MONDO:0010926 rdfs:label "familial hypocalciuric hypercalcemia 3" http://identifiers.org/hgnc/8804 rdfs:label "PDGFRB" MONDO:0005533 rdfs:label "distal colitis" @@ -24972,7 +24982,7 @@ GO:0005592 rdfs:label "collagen type XI trimer" NCBITaxon:5500 rdfs:label "Coccidioides" MONDO:0006527 rdfs:label "anhidrosis" MONDO:0010529 rdfs:label "X-linked spinocerebellar ataxia type 3" -MONDO:0010705 rdfs:label "ouabain resistance" +MONDO:0010705 rdfs:label "obsolete ouabain resistance" MONDO:0001839 rdfs:label "obsolete interstitial cystitis" MONDO:0018718 rdfs:label "obsolete vascular tumor with associated anomalies" MONDO:0000798 rdfs:label "obsolete mollusc allergy" @@ -25110,11 +25120,11 @@ MONDO:0017781 rdfs:label "12p12.1 microdeletion syndrome" MONDO:0026733 rdfs:label "intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type" MONDO:0005672 rdfs:label "blastomycosis" MONDO:0003338 rdfs:label "obsolete von Economo disease" -MONDO:0020050 rdfs:label "autosomal trisomy" +MONDO:0020050 rdfs:label "obsolete autosomal trisomy" http://identifiers.org/hgnc/24519 rdfs:label "TCTN3" UBERON:0007650 rdfs:label "esophagogastric junction" -UBERON:0005066 rdfs:label "right ventricular trabecular myocardium" MONDO:0000963 rdfs:label "esophageal lipoma" +UBERON:0005066 rdfs:label "right ventricular trabecular myocardium" GO:0100032 rdfs:label "obsolete positive regulation of phospholipid biosynthetic process by transcription from RNA polymerase II promoter" MONDO:0012657 rdfs:label "Mungan syndrome" MONDO:0013603 rdfs:label "myopia 20, autosomal dominant" @@ -25143,6 +25153,7 @@ http://identifiers.org/hgnc/12858 rdfs:label "ZAP70" MONDO:0001892 rdfs:label "spinal cord lymphoma" NCBITaxon:784 rdfs:label "Orientia tsutsugamushi" UBERON:0002008 rdfs:label "cardiac nerve plexus" +UBERON:0003121 rdfs:label "pharyngeal arch artery 4" UBERON:0001292 rdfs:label "distal convoluted tubule" http://identifiers.org/hgnc/18620 rdfs:label "COG4" MONDO:0006580 rdfs:label "miliaria" @@ -25150,7 +25161,6 @@ http://identifiers.org/hgnc/6144 rdfs:label "ITGA8" MONDO:0018428 rdfs:label "9q31.1q31.3 microdeletion syndrome" MONDO:0017800 rdfs:label "pseudo-Meigs syndrome" MONDO:0013826 rdfs:label "autosomal recessive nonsyndromic hearing loss 86" -UBERON:0003121 rdfs:label "pharyngeal arch artery 4" MONDO:0020693 rdfs:label "glycogen storage disease due to liver phosphorylase kinase deficiency" http://identifiers.org/hgnc/385 rdfs:label "AKR1C2" MONDO:0004921 rdfs:label "obsolete Omsk hemorrhagic fever" @@ -25276,8 +25286,8 @@ UBERON:0008115 rdfs:label "surface of cartilage" HP:0002344 rdfs:label "Progressive neurologic deterioration" http://identifiers.org/hgnc/3960 rdfs:label "FSCN2" MONDO:0002986 rdfs:label "obsolete neuromuscular disease" -SO:0005855 rdfs:label "gene_group" HP:0003429 rdfs:label "CNS hypomyelination" +SO:0005855 rdfs:label "gene_group" MONDO:0003932 rdfs:label "childhood optic nerve glioma" PATO:0000499 rdfs:label "decreased duration" MONDO:0020042 rdfs:label "obsolete syndrome with 46,XY disorder of sex development" @@ -25362,8 +25372,8 @@ MONDO:0009865 rdfs:label "glycogen storage disease due to phosphoglycerate mutas MONDO:0003230 rdfs:label "obsolete extraosseous Ewings sarcoma-primitive neuroepithelial tumor" UBERON:0001435 rdfs:label "carpal bone" GO:0072376 rdfs:label "protein activation cascade" -http://identifiers.org/hgnc/23663 rdfs:label "VKORC1" MONDO:0013029 rdfs:label "cerebellar ataxia type 9" +http://identifiers.org/hgnc/23663 rdfs:label "VKORC1" UBERON:0008896 rdfs:label "post-hyoid pharyngeal arch" MONDO:0014891 rdfs:label "hyperuricemic nephropathy, familial juvenile type 4" MONDO:0017879 rdfs:label "hantavirus pulmonary syndrome" @@ -25416,8 +25426,8 @@ MONDO:0002978 rdfs:label "orbit alveolar rhabdomyosarcoma" http://identifiers.org/hgnc/17210 rdfs:label "DHX37" MONDO:0006077 rdfs:label "adrenal medullary hyperplasia" MONDO:0017018 rdfs:label "isolated pulmonary capillaritis" -MONDO:0002180 rdfs:label "obsolete gestational choriocarcinoma" UBERON:0005769 rdfs:label "basement membrane of epithelium" +MONDO:0002180 rdfs:label "obsolete gestational choriocarcinoma" MONDO:0004139 rdfs:label "normocytic anemia" http://identifiers.org/hgnc/11834 rdfs:label "TKT" MONDO:0006339 rdfs:label "ovarian microcystic stromal tumor" @@ -25425,7 +25435,7 @@ MONDO:0005711 rdfs:label "congenital diaphragmatic hernia" GO:0005623 rdfs:label "obsolete cell" NCIT:C53637 rdfs:label "Malignant Spindle Cell" MONDO:0009453 rdfs:label "immune deficiency disease" -MONDO:0020734 rdfs:label "erythrocyte AMP deaminase deficiency" +MONDO:0020734 rdfs:label "obsolete erythrocyte AMP deaminase deficiency" CL:0000300 rdfs:label "gamete" GO:0030217 rdfs:label "T cell differentiation" http://identifiers.org/hgnc/16472 rdfs:label "SLC45A2" @@ -25514,8 +25524,8 @@ MONDO:0015160 rdfs:label "multiple congenital anomalies/dysmorphic syndrome-vari http://identifiers.org/hgnc/11730 rdfs:label "TERT" MONDO:0000799 rdfs:label "obsolete crustacean allergy" MONDO:0020871 rdfs:label "obsolete name syndrome" -MONDO:0056822 rdfs:label "amyotonia congenita" MONDO:0005946 rdfs:label "rhinosporidiosis" +MONDO:0056822 rdfs:label "amyotonia congenita" ECTO:9000156 rdfs:label "exposure to water" HP:0000153 rdfs:label "Abnormality of the mouth" MONDO:0013060 rdfs:label "autosomal recessive Parkinson disease 14" @@ -25612,8 +25622,8 @@ ECTO:0400000 rdfs:label "exposure to environmental layer" http://identifiers.org/hgnc/216 rdfs:label "ADAM9" MONDO:0014147 rdfs:label "neuronal ceroid lipofuscinosis 13" UBERON:0001490 rdfs:label "elbow joint" -MONDO:0022999 rdfs:label "distichiasis heart congenital anomalies" MONDO:0018997 rdfs:label "Noonan syndrome" +MONDO:0022999 rdfs:label "distichiasis heart congenital anomalies" UBERON:0014777 rdfs:label "spinal neuromere" MONDO:0003904 rdfs:label "lung occult squamous cell carcinoma" MONDO:0019530 rdfs:label "non-syndromic syndactyly" @@ -25674,9 +25684,9 @@ NCBITaxon:59140 rdfs:label "Myzomyia" UBERON:0000965 rdfs:label "lens of camera-type eye" MONDO:0017027 rdfs:label "primary interstitial lung disease specific to adulthood" GO:0042589 rdfs:label "zymogen granule membrane" +MONDO:0019916 rdfs:label "maternal uniparental disomy of chromosome 16" MONDO:0018585 rdfs:label "pediatric arterial ischemic stroke" MONDO:0014149 rdfs:label "fetal akinesia-cerebral and retinal hemorrhage syndrome" -MONDO:0019916 rdfs:label "maternal uniparental disomy of chromosome 16" FOODON:03412112 rdfs:label "mollusc"@en MONDO:0010173 rdfs:label "Mayer-Rokitansky-Kuster-Hauser syndrome type 1" HP:0031694 rdfs:label "Severe adenovirus infection" @@ -25747,8 +25757,8 @@ MONDO:0014722 rdfs:label "Roifman syndrome" MONDO:0004232 rdfs:label "large cell keratinizing variant squamous cell breast carcinoma" MONDO:0006685 rdfs:label "brain hypoxia - ischemia" UBERON:0004921 rdfs:label "subdivision of digestive tract" -CL:0000099 rdfs:label "interneuron" UBERON:0003530 rdfs:label "pedal digit skin" +CL:0000099 rdfs:label "interneuron" NCBITaxon:5052 rdfs:label "Aspergillus" MONDO:0011219 rdfs:label "Fried's tooth and nail syndrome" MONDO:0016319 rdfs:label "congenital insensitivity to pain with hyperhidrosis" @@ -25762,9 +25772,9 @@ FOODON:00001771 rdfs:label "cow milk based food product"@en MONDO:0002297 rdfs:label "epidermal appendage tumor" MONDO:0010479 rdfs:label "Charcot-Marie-Tooth disease X-linked dominant 6" MONDO:0022609 rdfs:label "bronchial adenomas/carcinoids childhood" +MONDO:0020544 rdfs:label "streptococcal toxic-shock syndrome" GO:0050868 rdfs:label "negative regulation of T cell activation" MONDO:0002102 rdfs:label "cheilitis" -MONDO:0020544 rdfs:label "streptococcal toxic-shock syndrome" MONDO:0008005 rdfs:label "cardiospondylocarpofacial syndrome" UBERON:0004275 rdfs:label "third ventricle choroid plexus epithelium" MONDO:0019143 rdfs:label "angiostrongyliasis" @@ -25790,9 +25800,9 @@ MONDO:0019561 rdfs:label "lupus erythematosus panniculitis" NCBITaxon:118882 rdfs:label "Brucellaceae" MONDO:0018188 rdfs:label "genetic intestinal polyposis" MONDO:0008299 rdfs:label "posterior column ataxia" -MONDO:0018364 rdfs:label "malignant epithelial tumor of ovary" MONDO:0004055 rdfs:label "acute inflammation of lacrimal passage" GO:0016788 rdfs:label "hydrolase activity, acting on ester bonds" +MONDO:0018364 rdfs:label "malignant epithelial tumor of ovary" MONDO:0011648 rdfs:label "radiation-induced meningioma" MONDO:0006255 rdfs:label "intimal sarcoma" MONDO:0001893 rdfs:label "spinal cord melanoma" @@ -25807,8 +25817,8 @@ MONDO:0004922 rdfs:label "developmental coordination disorder" CHEBI:30563 rdfs:label "silicon dioxide" MONDO:0015904 rdfs:label "obsolete rare hypolipidemia" MONDO:0021071 rdfs:label "laryngeal neoplasm" -MONDO:0033204 rdfs:label "ciliary dyskinesia, primary, 37" MONDO:0010889 rdfs:label "arterial dissection-lentiginosis syndrome" +MONDO:0033204 rdfs:label "ciliary dyskinesia, primary, 37" MONDO:0032626 rdfs:label "mitochondrial complex 1 deficiency, nuclear type 22" MONDO:0009560 rdfs:label "oculotrichoanal syndrome" MONDO:0005496 rdfs:label "bile duct carcinoma" @@ -25817,8 +25827,8 @@ UBERON:0001130 rdfs:label "vertebral column" CHEBI:64459 rdfs:label "biaryl" MONDO:0019782 rdfs:label "humero-ulnar synostosis" MONDO:0010028 rdfs:label "sialuria" -MONDO:0008872 rdfs:label "microcephalic osteodysplastic primordial dwarfism type II" MONDO:0002987 rdfs:label "spongiotic dermatitis" +MONDO:0008872 rdfs:label "microcephalic osteodysplastic primordial dwarfism type II" MONDO:0014501 rdfs:label "macular degeneration, early-onset" MONDO:0003933 rdfs:label "chest wall bone cancer" MONDO:0008092 rdfs:label "hereditary neutrophilia" @@ -25886,9 +25896,9 @@ MONDO:0019214 rdfs:label "inborn carbohydrate metabolic disorder" MONDO:0000313 rdfs:label "hypophosphatemia" MONDO:0002766 rdfs:label "larynx verrucous carcinoma" CHEBI:33848 rdfs:label "polycyclic arene" -UBERON:0018119 rdfs:label "left renal medulla interstitium" MONDO:0100343 rdfs:label "antenatal Bartter syndrome" NCBITaxon:2732529 rdfs:label "Tectiliviricetes" +UBERON:0018119 rdfs:label "left renal medulla interstitium" UBERON:0013774 rdfs:label "diaphysis of metatarsal bone" MONDO:0001191 rdfs:label "hirudiniasis" MONDO:0017587 rdfs:label "onychomatricoma" @@ -25902,16 +25912,16 @@ MONDO:0001754 rdfs:label "eclampsia" MONDO:0007657 rdfs:label "giant neutrophil leukocytes" GO:1901615 rdfs:label "organic hydroxy compound metabolic process" CHR:9606-chrXq27 rdfs:label "Xq27 (Human)" -NCBITaxon:169455 rdfs:label "Coelopellini" http://identifiers.org/hgnc/30800 rdfs:label "TMIE" +NCBITaxon:169455 rdfs:label "Coelopellini" GO:0005750 rdfs:label "mitochondrial respiratory chain complex III" MONDO:0019080 rdfs:label "alopecia totalis" ECTO:9001942 rdfs:label "exposure to food additive" MONDO:0003348 rdfs:label "conventional leiomyosarcoma" HsapDv:0000109 rdfs:label "15-year-old human stage" HP:0001618 rdfs:label "Dysphonia" -MONDO:0020043 rdfs:label "autosomal recessive congenital cerebellar ataxia" UBERON:0001436 rdfs:label "phalanx of manus" +MONDO:0020043 rdfs:label "autosomal recessive congenital cerebellar ataxia" MONDO:0006724 rdfs:label "obsolete desmoplastic small round cell tumor" UBERON:0008897 rdfs:label "fin" GO:0051886 rdfs:label "negative regulation of timing of anagen" @@ -25927,8 +25937,8 @@ MONDO:0000136 rdfs:label "keratosis follicularis spinulosa decalvans" CHEBI:26895 rdfs:label "tetracyclines" MONDO:0002336 rdfs:label "inflammatory and toxic neuropathy" MONDO:0006078 rdfs:label "AIDS-related primary central nervous system lymphoma" -NCBITaxon:848 rdfs:label "Fusobacterium" MONDO:0017645 rdfs:label "obsolete rare choreic movement disorder" +NCBITaxon:848 rdfs:label "Fusobacterium" GO:0002863 rdfs:label "positive regulation of inflammatory response to antigenic stimulus" MONDO:0015709 rdfs:label "obsolete immunodeficiency syndrome with autoimmunity" CL:0002200 rdfs:label "oxyphil cell of thyroid" @@ -26029,8 +26039,8 @@ http://identifiers.org/hgnc/9460 rdfs:label "PROZ" MONDO:0018826 rdfs:label "Lewis-Sumner syndrome" MONDO:0032878 rdfs:label "neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia" CL:0000819 rdfs:label "B-1 B cell" -MONDO:0005947 rdfs:label "rickettsial pneumonia" MONDO:0100148 rdfs:label "X-linked complex neurodevelopmental disorder" +MONDO:0005947 rdfs:label "rickettsial pneumonia" MONDO:0009046 rdfs:label "Fraser syndrome" CL:0000021 rdfs:label "female germ cell" GO:0034255 rdfs:label "regulation of urea metabolic process" @@ -26053,8 +26063,8 @@ CHEBI:26932 rdfs:label "tetrapyrrole" GO:0005594 rdfs:label "collagen type IX trimer" MONDO:0009233 rdfs:label "Fibulo-ulnar hypoplasia-renal anomalies syndrome" GO:0098960 rdfs:label "postsynaptic neurotransmitter receptor activity" -CHR:9606-chrXp11.3 rdfs:label "Xp11.3 (Human)" MONDO:0011584 rdfs:label "Fanconi anemia complementation group D1" +CHR:9606-chrXp11.3 rdfs:label "Xp11.3 (Human)" CL:1000450 rdfs:label "epithelial cell of glomerular capsule" MONDO:0011413 rdfs:label "cataract 9 multiple types" MONDO:0100369 rdfs:label "iatrogenic or non-iatrogenic" @@ -26080,7 +26090,7 @@ MONDO:0024318 rdfs:label "viral infection of central nervous system" PATO:0000411 rdfs:label "circular" UBERON:0015030 rdfs:label "pedal digit phalanx endochondral element" GO:0002686 rdfs:label "negative regulation of leukocyte migration" -MONDO:0008677 rdfs:label "widow's peak" +MONDO:0008677 rdfs:label "obsolete widow's peak" MONDO:0006590 rdfs:label "palmoplantar keratosis" MONDO:0018742 rdfs:label "familial gastric type 1 neuroendocrine tumor" UBERON:0004720 rdfs:label "cerebellar vermis" @@ -26219,8 +26229,8 @@ MONDO:0016016 rdfs:label "toluene embryopathy" http://identifiers.org/hgnc/10596 rdfs:label "SCN8A" MONDO:0009782 rdfs:label "ophthalmoplegia totalis with ptosis and miosis" http://identifiers.org/hgnc/16499 rdfs:label "RAB39B" -MONDO:0014337 rdfs:label "complex cortical dysplasia with other brain malformations 5" UBERON:0015056 rdfs:label "ischial endochondral element" +MONDO:0014337 rdfs:label "complex cortical dysplasia with other brain malformations 5" MONDO:0015903 rdfs:label "hyperalphalipoproteinemia" CHR:9606-chr3q26 rdfs:label "3q26 (Human)" UBERON:0011756 rdfs:label "male genital swelling" @@ -26310,10 +26320,10 @@ MONDO:0002716 rdfs:label "childhood spinal cord tumor" ENVO:01001787 rdfs:label "aquatic ecosystem"@en MONDO:0700019 rdfs:label "chromosome 12 disorder" MONDO:0012158 rdfs:label "keratoconus 2" -NCBITaxon:11632 rdfs:label "Retroviridae" MONDO:0008686 rdfs:label "isolated familial woolly hair disorder" MONDO:0001894 rdfs:label "spinal cord sarcoma" MONDO:0019627 rdfs:label "isolated congenital alacrima" +NCBITaxon:11632 rdfs:label "Retroviridae" GO:0051223 rdfs:label "regulation of protein transport" CHEBI:25701 rdfs:label "organic oxide" MONDO:0018751 rdfs:label "genetic otorhinolaryngologic disease" @@ -26373,9 +26383,9 @@ GO:0033674 rdfs:label "positive regulation of kinase activity" CL:1000327 rdfs:label "appendix goblet cell" CL:0002305 rdfs:label "epithelial cell of distal tubule" UBERON:0002097 rdfs:label "skin of body" +NCBITaxon:7898 rdfs:label "Actinopterygii" NCBITaxon:1648 rdfs:label "Erysipelothrix rhusiopathiae" MONDO:0001482 rdfs:label "testicular leukemia" -NCBITaxon:7898 rdfs:label "Actinopterygii" MONDO:0013985 rdfs:label "autosomal recessive nonsyndromic hearing loss 18B" MONDO:0012731 rdfs:label "elliptocytosis 1" NCBITaxon:103829 rdfs:label "Thelazioidea" @@ -26428,12 +26438,12 @@ http://identifiers.org/hgnc/26444 rdfs:label "UROC1" MONDO:0001978 rdfs:label "regional ureteric cancer" http://identifiers.org/hgnc/11285 rdfs:label "SRD5A2" GO:0016826 rdfs:label "hydrolase activity, acting on acid sulfur-nitrogen bonds" -UBERON:0002346 rdfs:label "neurectoderm" GO:0070857 rdfs:label "regulation of bile acid biosynthetic process" MONDO:0012323 rdfs:label "lethal acantholytic epidermolysis bullosa" MONDO:0001755 rdfs:label "obsolete vaginal carcinosarcoma" -MONDO:0013881 rdfs:label "congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome" +UBERON:0002346 rdfs:label "neurectoderm" MONDO:0007658 rdfs:label "obsolete spitz nevus" +MONDO:0013881 rdfs:label "congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome" NBO:0000010 rdfs:label "reproductive behavior" MONDO:0005497 rdfs:label "bone development disease" GO:0002200 rdfs:label "somatic diversification of immune receptors" @@ -26454,9 +26464,9 @@ MONDO:0013764 rdfs:label "Joubert syndrome 16" MONDO:0005505 rdfs:label "dysembryoplastic neuroepithelial tumor" GO:0002695 rdfs:label "negative regulation of leukocyte activation" HP:0000083 rdfs:label "Renal insufficiency" +UBERON:0007105 rdfs:label "vitelline duct" MONDO:0100275 rdfs:label "fatty acyl-CoA reductase defects" http://identifiers.org/hgnc/16266 rdfs:label "SLC19A3" -UBERON:0007105 rdfs:label "vitelline duct" http://identifiers.org/hgnc/18466 rdfs:label "RNASEH1" MONDO:0006079 rdfs:label "ameloblastic carcinoma" MONDO:0001250 rdfs:label "keratomalacia" @@ -26465,9 +26475,9 @@ MONDO:0007153 rdfs:label "arteries, anomalies of" http://identifiers.org/hgnc/14637 rdfs:label "ABCA12" MONDO:0004767 rdfs:label "vesiculitis" UBERON:0015128 rdfs:label "subepicardial layer of epicardium" +UBERON:0006304 rdfs:label "future trigeminal ganglion" GO:0031324 rdfs:label "negative regulation of cellular metabolic process" MONDO:0002487 rdfs:label "breast granular cell tumor" -UBERON:0006304 rdfs:label "future trigeminal ganglion" CL:0009019 rdfs:label "nephrogenic zone cell" CL:0000126 rdfs:label "macroglial cell" MONDO:0009455 rdfs:label "immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes" @@ -26535,9 +26545,9 @@ MPATH:607 rdfs:label "healing and repair structure" ECTO:0000522 rdfs:label "exposure to mitochondrial respiratory-chain inhibitor" MONDO:0021190 rdfs:label "DNA repair disease" MONDO:0003045 rdfs:label "anal gland neoplasm" +UBERON:0004777 rdfs:label "respiratory system submucosa" UBERON:0001554 rdfs:label "skin of hip" MONDO:0014754 rdfs:label "primary coenzyme Q10 deficiency 8" -UBERON:0004777 rdfs:label "respiratory system submucosa" GO:0043062 rdfs:label "extracellular structure organization" MONDO:0006421 rdfs:label "small intestinal tubular adenoma" GO:0046579 rdfs:label "positive regulation of Ras protein signal transduction" @@ -26569,8 +26579,8 @@ MONDO:0005150 rdfs:label "age-related macular degeneration" MONDO:0018556 rdfs:label "Lambert-Eaton myasthenic syndrome" MONDO:0010144 rdfs:label "tibial hemimelia" MONDO:0000137 rdfs:label "leukoencephalopathy, megalencephalic" -MONDO:0012987 rdfs:label "agammaglobulinemia 6, autosomal recessive" MONDO:0002337 rdfs:label "intra-abdominal hemangioma" +MONDO:0012987 rdfs:label "agammaglobulinemia 6, autosomal recessive" NCBITaxon:451507 rdfs:label "Mucoromycotina" GO:0050908 rdfs:label "detection of light stimulus involved in visual perception" http://identifiers.org/hgnc/24717 rdfs:label "PTCD3" @@ -26639,8 +26649,8 @@ GO:0048873 rdfs:label "homeostasis of number of cells within a tissue" MONDO:0003421 rdfs:label "mixed cell adenoma" MONDO:0015574 rdfs:label "chronic cutaneous lupus erythematosus" MONDO:0006938 rdfs:label "pyelitis" -MONDO:0006140 rdfs:label "cervical mucinous adenocarcinoma, minimal deviation variant" UBERON:0011189 rdfs:label "lamina propria of large intestine" +MONDO:0006140 rdfs:label "cervical mucinous adenocarcinoma, minimal deviation variant" UBERON:0003052 rdfs:label "midbrain-hindbrain boundary" MONDO:0011134 rdfs:label "Curry-Jones syndrome" MONDO:0013977 rdfs:label "combined oxidative phosphorylation defect type 13" @@ -26649,8 +26659,8 @@ MONDO:0001053 rdfs:label "acute infection of pinna" MONDO:0032821 rdfs:label "myopathy, congenital, progressive, with scoliosis" MONDO:0015411 rdfs:label "facial cleft" UBERON:0010145 rdfs:label "paraurethral gland" -UBERON:0014451 rdfs:label "tongue taste bud" MONDO:0019153 rdfs:label "brain malformation-congenital heart disease-postaxial polydactyly syndrome" +UBERON:0014451 rdfs:label "tongue taste bud" UBERON:0004942 rdfs:label "submucosa of left hepatic duct" MONDO:0002893 rdfs:label "obsolete chondroid chordoma" UBERON:0002293 rdfs:label "costochondral joint" @@ -26695,7 +26705,7 @@ MONDO:0013062 rdfs:label "long QT syndrome 12" CHEBI:50336 rdfs:label "4-hydroxybenzyl group" UBERON:0001009 rdfs:label "circulatory system" HP:0012730 rdfs:label "Aglossia" -MONDO:0020053 rdfs:label "total autosomal monosomy" +MONDO:0020053 rdfs:label "obsolete total autosomal monosomy" MONDO:0001231 rdfs:label "orbital periostitis" CHR:9606-chr2q33 rdfs:label "2q33 (Human)" MONDO:0015006 rdfs:label "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss" @@ -26734,8 +26744,8 @@ MONDO:0010396 rdfs:label "developmental and epileptic encephalopathy, 2" MONDO:0020461 rdfs:label "epiblepharon" MONDO:0001727 rdfs:label "active cochleovestibular Meniere disease" MONDO:0008381 rdfs:label "dominant pericentral pigmentary retinopathy" -GO:0006110 rdfs:label "regulation of glycolytic process" MONDO:0024489 rdfs:label "general tumor grading characteristic" +GO:0006110 rdfs:label "regulation of glycolytic process" http://identifiers.org/hgnc/1395 rdfs:label "CACNA1H" http://identifiers.org/hgnc/9721 rdfs:label "PYCR1" UBERON:0019269 rdfs:label "gray matter of diencephalon" @@ -26749,8 +26759,8 @@ CHEBI:76932 rdfs:label "pathway inhibitor" GO:0051046 rdfs:label "regulation of secretion" http://identifiers.org/hgnc/5439 rdfs:label "IFNGR1" MONDO:0012740 rdfs:label "chromosome 22q11.2 deletion syndrome, distal" -http://identifiers.org/hgnc/10597 rdfs:label "SCN9A" MONDO:0000968 rdfs:label "kidney lipoma" +http://identifiers.org/hgnc/10597 rdfs:label "SCN9A" GO:0051222 rdfs:label "positive regulation of protein transport" UBERON:0015057 rdfs:label "scapula endochondral element" CHR:9606-chr3q27 rdfs:label "3q27 (Human)" @@ -26780,15 +26790,15 @@ NCIT:C16956 rdfs:label "Pathologic Process" FOODON:03420110 rdfs:label "peel, core or seed"@en MONDO:0018999 rdfs:label "LCAT deficiency" MONDO:0002104 rdfs:label "conversion disorder" -MONDO:0008007 rdfs:label "tooth ankylosis" UBERON:0004277 rdfs:label "eye muscle" +MONDO:0008007 rdfs:label "tooth ankylosis" GO:0060348 rdfs:label "bone development" MONDO:0005675 rdfs:label "border disease" MONDO:0014559 rdfs:label "progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome" -UBERON:0011250 rdfs:label "autopod bone" CHEBI:60004 rdfs:label "mixture" UBERON:0003911 rdfs:label "choroid plexus epithelium" http://identifiers.org/hgnc/16171 rdfs:label "CHMP4B" +UBERON:0011250 rdfs:label "autopod bone" UBERON:0001750 rdfs:label "lacrimal apparatus" MONDO:0010209 rdfs:label "xanthinuria type I" MONDO:0016636 rdfs:label "obsolete thrombotic disorder due to a constitutional platelet anomaly" @@ -26842,10 +26852,10 @@ ENVO:01001788 rdfs:label "marine ecosystem"@en MONDO:0012159 rdfs:label "lung cancer susceptibility 1" MONDO:0019628 rdfs:label "Rieger anomaly" CHEBI:78675 rdfs:label "fundamental metabolite" -UBERON:0003124 rdfs:label "chorion membrane" MONDO:0025382 rdfs:label "sarcoma, avian" MONDO:0024654 rdfs:label "skull disorder" MONDO:0003593 rdfs:label "breast liposarcoma" +UBERON:0003124 rdfs:label "chorion membrane" MONDO:0013101 rdfs:label "basal cell carcinoma, susceptibility to, 2" MONDO:0001977 rdfs:label "ureteral lymphoma" UBERON:0009027 rdfs:label "vesical artery" @@ -26879,8 +26889,8 @@ MONDO:0013322 rdfs:label "epilepsy, familial adult myoclonic, 3" http://identifiers.org/hgnc/11179 rdfs:label "SOD1" MONDO:0000922 rdfs:label "pelvic inflammatory disease" GO:0045670 rdfs:label "regulation of osteoclast differentiation" -MONDO:0000042 rdfs:label "obsolete hyperprolinemia" MONDO:0020149 rdfs:label "obsolete rare eye disease due to a differentiation anomaly" +MONDO:0000042 rdfs:label "obsolete hyperprolinemia" UBERON:0003913 rdfs:label "tooth-like structure" MONDO:0007856 rdfs:label "palmoplantar keratoderma-esophageal carcinoma syndrome" MONDO:0002885 rdfs:label "erythrasma" @@ -26960,10 +26970,10 @@ MONDO:0041806 rdfs:label "drug-resistant tuberculosis" GO:0046660 rdfs:label "female sex differentiation" UBERON:2001544 rdfs:label "sublingual cartilage" CL:0002202 rdfs:label "epithelial cell of tracheobronchial tree" -UBERON:0002347 rdfs:label "thoracic vertebra" MONDO:0021073 rdfs:label "paraneoplastic syndrome" MONDO:0016760 rdfs:label "microcephaly-microcornea syndrome, Seemanova type" MONDO:0012324 rdfs:label "Frias syndrome" +UBERON:0002347 rdfs:label "thoracic vertebra" MONDO:0013882 rdfs:label "hyperphosphatasia with intellectual disability syndrome 2" NBO:0000011 rdfs:label "social behavior" MONDO:0032628 rdfs:label "mitochondrial complex 1 deficiency, nuclear type 24" @@ -27023,9 +27033,9 @@ UBERON:0010291 rdfs:label "layer of sclera" CL:0002306 rdfs:label "epithelial cell of proximal tubule" NCBITaxon:2082223 rdfs:label "Panagrolaimomorpha" MONDO:0000317 rdfs:label "obsolete foodborne botulism" -MONDO:0020502 rdfs:label "yellow fever" MONDO:0013986 rdfs:label "combined oxidative phosphorylation defect type 14" MONDO:0012732 rdfs:label "tremor, hereditary essential, and idiopathic normal pressure hydrocephalus" +MONDO:0020502 rdfs:label "yellow fever" MONDO:0021569 rdfs:label "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" MONDO:0021745 rdfs:label "psychosocial short stature" MONDO:0016352 rdfs:label "idiopathic inherited hypercalciuria" @@ -27052,14 +27062,14 @@ MONDO:0033618 rdfs:label "Vissers-Bodmer syndrome" MONDO:0003233 rdfs:label "essential tremor" CHR:9606-chr4p rdfs:label "4p (Human)" MONDO:0001921 rdfs:label "chronic atticoantral disease" -http://identifiers.org/hgnc/10801 rdfs:label "SFTPB" GO:0010185 rdfs:label "regulation of cellular defense response" +http://identifiers.org/hgnc/10801 rdfs:label "SFTPB" MONDO:0009048 rdfs:label "curved nail of fourth toe" CL:0000023 rdfs:label "oocyte" MONDO:0030977 rdfs:label "neuropathy, hereditary motor, with myopathic features" UBERON:0013776 rdfs:label "skin of palmar/plantar part of autopod" -MONDO:0010145 rdfs:label "tibia, absence of, with congenital deafness" MONDO:0054654 rdfs:label "combined oxidative phosphorylation deficiency 32" +MONDO:0010145 rdfs:label "tibia, absence of, with congenital deafness" CHEBI:25000 rdfs:label "lactone" MONDO:0020210 rdfs:label "syndromic hyperopia" UBERON:0035608 rdfs:label "dura mater lymph vessel" @@ -27093,25 +27103,25 @@ CHEBI:2571 rdfs:label "aliphatic alcohol" MONDO:0005151 rdfs:label "endocrine system disorder" MONDO:0018557 rdfs:label "obsolete rare genetic autonomic nervous system disorder" MONDO:0037870 rdfs:label "valine metabolism disease" -MONDO:0000138 rdfs:label "metaphyseal chondrodysplasia" HP:0000741 rdfs:label "Apathy" -MONDO:0008351 rdfs:label "pupil, egg-shaped" +MONDO:0000138 rdfs:label "metaphyseal chondrodysplasia" +MONDO:0008351 rdfs:label "obsolete pupil, egg-shaped" MONDO:0017342 rdfs:label "Epstein-Barr virus-related tumor" MONDO:0002338 rdfs:label "extratemporal epilepsy" -UBERON:0002042 rdfs:label "lymphatic vessel endothelium" -OBI:0100051 rdfs:label "specimen"@en MONDO:0012190 rdfs:label "nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome" MONDO:0001251 rdfs:label "chronic apical periodontitis" GO:0050909 rdfs:label "sensory perception of taste" -GO:0044057 rdfs:label "regulation of system process" MONDO:0007154 rdfs:label "arteriovenous malformations of the brain" GO:0002865 rdfs:label "negative regulation of acute inflammatory response to antigenic stimulus" -CHEBI:167559 rdfs:label "glycan" +UBERON:0002042 rdfs:label "lymphatic vessel endothelium" MONDO:0004768 rdfs:label "keratoconjunctivitis" MONDO:0014043 rdfs:label "microcephalic primordial dwarfism due to ZNF335 deficiency" +OBI:0100051 rdfs:label "specimen"@en +GO:0044057 rdfs:label "regulation of system process" GO:0031325 rdfs:label "positive regulation of cellular metabolic process" MONDO:0007330 rdfs:label "congenital pseudoarthrosis of clavicle" MONDO:0010403 rdfs:label "albinism-hearing loss syndrome" +CHEBI:167559 rdfs:label "glycan" MONDO:0005714 rdfs:label "congenital syphilis" NCBITaxon:2560602 rdfs:label "Mumps orthorubulavirus" MONDO:0025712 rdfs:label "angioedema, hereditary, 4" @@ -27159,8 +27169,8 @@ UBERON:0001158 rdfs:label "descending colon" HP:0410008 rdfs:label "Abnormality of the peripheral nervous system" MONDO:0000871 rdfs:label "T-cell childhood acute lymphocytic leukemia" UBERON:0001334 rdfs:label "female urethra" -MONDO:0007529 rdfs:label "elastosis perforans serpiginosa" MONDO:0024381 rdfs:label "circadian rhythm sleep disorder, jet lag type" +MONDO:0007529 rdfs:label "elastosis perforans serpiginosa" MONDO:0054843 rdfs:label "ciliary dyskinesia, primary, 38" MONDO:0006201 rdfs:label "ethmoid sinus adenoid cystic carcinoma" MONDO:0007412 rdfs:label "Beare-Stevenson cutis gyrata syndrome" @@ -27173,8 +27183,8 @@ MONDO:0005537 rdfs:label "perianal Crohn disease" UBERON:0018232 rdfs:label "axillary sweat gland" MONDO:0006611 rdfs:label "skin sarcoidosis" http://identifiers.org/hgnc/14344 rdfs:label "C1QTNF5" -MONDO:0001923 rdfs:label "vitreoretinal dystrophy" MONDO:0020307 rdfs:label "benign childhood occipital epilepsy, Panayiotopoulos type" +MONDO:0001923 rdfs:label "vitreoretinal dystrophy" UBERON:0006011 rdfs:label "hyaloid vein" UBERON:0000473 rdfs:label "testis" http://identifiers.org/hgnc/25896 rdfs:label "ORAI1" @@ -27247,10 +27257,10 @@ MONDO:0002503 rdfs:label "adult astrocytic tumour" MONDO:0012051 rdfs:label "periodontitis, aggressive, 2" http://identifiers.org/hgnc/1402 rdfs:label "CACNB2" MONDO:0024570 rdfs:label "hyperparathyroidism 4" -UBERON:0035965 rdfs:label "wall of blood vessel" -UBERON:0001102 rdfs:label "cartilage of main bronchus" GO:2001021 rdfs:label "negative regulation of response to DNA damage stimulus" +UBERON:0035965 rdfs:label "wall of blood vessel" MONDO:0015163 rdfs:label "primary glomerular disease" +UBERON:0001102 rdfs:label "cartilage of main bronchus" CHR:9606-chr20q13.3 rdfs:label "20q13.3 (Human)" MONDO:0012285 rdfs:label "left ventricular noncompaction 2" MONDO:0009571 rdfs:label "Meckel syndrome, type 1" @@ -27365,7 +27375,7 @@ MONDO:0000921 rdfs:label "ampulla of vater neoplasm" CL:0002140 rdfs:label "acinar cell of sebaceous gland" MONDO:0005676 rdfs:label "borna disease" UBERON:0006267 rdfs:label "notochordal plate" -MONDO:0020054 rdfs:label "partial autosomal monosomy" +MONDO:0020054 rdfs:label "obsolete partial autosomal monosomy" UBERON:0035804 rdfs:label "future mouth" GO:0016010 rdfs:label "dystrophin-associated glycoprotein complex" UBERON:0001751 rdfs:label "dentine" @@ -27387,8 +27397,8 @@ CHEBI:25558 rdfs:label "organonitrogen heterocyclic antibiotic" MONDO:0014035 rdfs:label "severe intellectual disability-progressive spastic diplegia syndrome" MONDO:0013891 rdfs:label "amyotrophic lateral sclerosis type 18" UBERON:0003288 rdfs:label "meninx of midbrain" -MONDO:0060550 rdfs:label "polydactyly, postaxial, type a7" CHEBI:35724 rdfs:label "carbohydrate sulfate" +MONDO:0060550 rdfs:label "polydactyly, postaxial, type a7" CL:0007009 rdfs:label "prechondroblast" MONDO:0002718 rdfs:label "central nervous system teratoma" MONDO:0017280 rdfs:label "demodicidosis" @@ -27408,8 +27418,8 @@ MONDO:0022874 rdfs:label "corpus callosum dysgenesis hypopituitarism" MONDO:0013276 rdfs:label "Reynolds syndrome" MONDO:0011964 rdfs:label "DPAGT1-CDG" http://identifiers.org/hgnc/9957 rdfs:label "RELN" -http://identifiers.org/hgnc/14282 rdfs:label "IRF2BPL" MONDO:0012910 rdfs:label "age-related hearing impairment 1" +http://identifiers.org/hgnc/14282 rdfs:label "IRF2BPL" GO:0001841 rdfs:label "neural tube formation" MONDO:0019785 rdfs:label "obsolete 15q24 microdeletion syndrome" http://identifiers.org/hgnc/4979 rdfs:label "MNX1" @@ -27466,9 +27476,9 @@ HP:0001931 rdfs:label "Hypochromic anemia" MONDO:0002886 rdfs:label "common bile duct disorder" http://identifiers.org/hgnc/18025 rdfs:label "COA6" http://identifiers.org/hgnc/11742 rdfs:label "TFAP2A" +MONDO:0018837 rdfs:label "postinfectious vasculitis" MONDO:0015614 rdfs:label "dermatitis herpetiformis" http://identifiers.org/hgnc/13711 rdfs:label "POF1B" -MONDO:0018837 rdfs:label "postinfectious vasculitis" GO:0006996 rdfs:label "organelle organization" UBERON:0004115 rdfs:label "blood vessel of tympanic cavity" GO:0030813 rdfs:label "positive regulation of nucleotide catabolic process" @@ -27536,8 +27546,8 @@ MONDO:0017648 rdfs:label "Sydenham chorea" NCBITaxon:6210 rdfs:label "Echinococcus granulosus" CHEBI:33461 rdfs:label "phosphorus oxoanion" MONDO:0002489 rdfs:label "malignant breast phyllodes tumor" -MONDO:0021074 rdfs:label "precancerous condition" GO:0009124 rdfs:label "nucleoside monophosphate biosynthetic process" +MONDO:0021074 rdfs:label "precancerous condition" HP:0000952 rdfs:label "Jaundice" http://identifiers.org/hgnc/33020 rdfs:label "SNORD115-1" HP:0002921 rdfs:label "Abnormality of the cerebrospinal fluid" @@ -27611,8 +27621,8 @@ MONDO:0030314 rdfs:label "inflammatory bowel disease (infantile ulcerative colit MONDO:0006423 rdfs:label "soft tissue chondroma" MONDO:0007981 rdfs:label "metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A" MONDO:0010775 rdfs:label "retinitis pigmentosa-deafness syndrome" -UBERON:0034670 rdfs:label "palatal taste bud" MONDO:0014591 rdfs:label "autosomal dominant Robinow syndrome 2" +UBERON:0034670 rdfs:label "palatal taste bud" MONDO:0001759 rdfs:label "obsolete patent foramen ovale" MONDO:0010951 rdfs:label "dilated cardiomyopathy 1B" HP:0002630 rdfs:label "Fat malabsorption" @@ -27628,8 +27638,8 @@ MONDO:0001922 rdfs:label "pyoureter" MONDO:0015320 rdfs:label "obsolete Pierre Robin syndrome associated with a chromosomal anomaly" MONDO:0017520 rdfs:label "symbrachydactyly of hand and foot, bilateral" MONDO:0017085 rdfs:label "obsolete malformation of the neurenteric canal, spinal cord and column" -MONDO:0015469 rdfs:label "craniosynostosis" MONDO:0045042 rdfs:label "restricted to specific location" +MONDO:0015469 rdfs:label "craniosynostosis" CHEBI:33710 rdfs:label "alpha-amino-acid residue" http://identifiers.org/hgnc/10295 rdfs:label "RPGR" MONDO:0009049 rdfs:label "Cushing syndrome due to macronodular adrenal hyperplasia" @@ -27747,8 +27757,8 @@ MONDO:0012577 rdfs:label "asthma-related traits, susceptibility to, 4" NCBITaxon:121229 rdfs:label "Pthiridae" UBERON:0003850 rdfs:label "telencephalon neural crest" MONDO:0004244 rdfs:label "proximal-type epithelioid sarcoma" -UBERON:0007592 rdfs:label "ciliated columnar epithelium" MONDO:0030978 rdfs:label "endove syndrome, limb-only type" +UBERON:0007592 rdfs:label "ciliated columnar epithelium" UBERON:0006222 rdfs:label "future diencephalon" UBERON:0011588 rdfs:label "pre-enamel" MONDO:0014756 rdfs:label "tremor, hereditary essential, 5" @@ -27837,18 +27847,18 @@ MONDO:0003236 rdfs:label "atypical polypoid adenomyoma" UBERON:0004946 rdfs:label "submucosa of ileum" UBERON:0001723 rdfs:label "tongue" MONDO:0023581 rdfs:label "Kuster syndrome" -http://identifiers.org/hgnc/3693 rdfs:label "FGFRL1" http://identifiers.org/hgnc/2135 rdfs:label "SBF2" ECTO:0000776 rdfs:label "exposure to signalling molecule" MONDO:0010398 rdfs:label "syndromic X-linked intellectual disability 14" -MONDO:0016800 rdfs:label "mitochondrial membrane transport disorder" +http://identifiers.org/hgnc/3693 rdfs:label "FGFRL1" FOODON:03411161 rdfs:label "obsolete: cattle"@en +MONDO:0016800 rdfs:label "mitochondrial membrane transport disorder" UBERON:0003923 rdfs:label "dorsal pancreatic bud" MONDO:0020463 rdfs:label "isolated congenital ectropion" +UBERON:0004066 rdfs:label "frontonasal prominence" MONDO:0021505 rdfs:label "benign neoplasm of endocardium" MONDO:0005538 rdfs:label "proctitis" MONDO:0011301 rdfs:label "pseudohypoparathyroidism type 1B" -UBERON:0004066 rdfs:label "frontonasal prominence" MONDO:0006612 rdfs:label "steroid lipomatosis" MONDO:0042961 rdfs:label "sacral hemangiomas multiple congenital abnormalities" MONDO:0013501 rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis 6" @@ -27872,9 +27882,9 @@ MONDO:0003423 rdfs:label "middle ear adenoma" http://identifiers.org/hgnc/19321 rdfs:label "NKX6-2" MONDO:0002400 rdfs:label "synovitis" UBERON:0012274 rdfs:label "columnar epithelium" -MONDO:0006142 rdfs:label "cervical small cell carcinoma" UBERON:0003054 rdfs:label "roof plate" MONDO:0022946 rdfs:label "deafness progressive cataract autosomal dominant" +MONDO:0006142 rdfs:label "cervical small cell carcinoma" GO:0009450 rdfs:label "gamma-aminobutyric acid catabolic process" MONDO:0012742 rdfs:label "Brugada syndrome 3" MONDO:0004830 rdfs:label "fasciitis" @@ -27915,10 +27925,10 @@ MONDO:0003908 rdfs:label "clivus meningioma" MONDO:0019534 rdfs:label "mixed-type autoimmune hemolytic anemia" http://identifiers.org/hgnc/8850 rdfs:label "PEX1" UBERON:0006723 rdfs:label "cochlear modiolus" +MONDO:0012451 rdfs:label "esophagitis, eosinophilic, 1" MONDO:0000325 rdfs:label "obsolete pachyonychia congenita" http://identifiers.org/hgnc/31670 rdfs:label "ENO4" MONDO:0006228 rdfs:label "gastric papillary adenocarcinoma" -MONDO:0012451 rdfs:label "esophagitis, eosinophilic, 1" MONDO:0045012 rdfs:label "steroid metabolism disease" MONDO:0004067 rdfs:label "gallbladder mucinous adenocarcinoma" UBERON:0005873 rdfs:label "2nd arch pharyngeal cleft" @@ -27956,7 +27966,7 @@ MONDO:0015836 rdfs:label "Bicervical bicornuate uterus with patent cervix and va MONDO:0006864 rdfs:label "necrotizing sialometaplasia" MONDO:0017805 rdfs:label "intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome" MONDO:0001057 rdfs:label "malignant gastric granular cell tumor" -MONDO:0020055 rdfs:label "autosomal uniparental disomy" +MONDO:0020055 rdfs:label "obsolete autosomal uniparental disomy" http://identifiers.org/hgnc/7974 rdfs:label "NR2E3" GO:0016011 rdfs:label "dystroglycan complex" MONDO:0001233 rdfs:label "orbital tenonitis" @@ -28009,8 +28019,8 @@ MONDO:0009785 rdfs:label "opsismodysplasia" MONDO:0007351 rdfs:label "coloboma of macula" http://identifiers.org/hgnc/2799 rdfs:label "GRHL2" UBERON:0016884 rdfs:label "shoulder joint" -MONDO:0022875 rdfs:label "cortada Koussef Matsumoto syndrome" UBERON:0013749 rdfs:label "metaphysis of humerus" +MONDO:0022875 rdfs:label "cortada Koussef Matsumoto syndrome" CHEBI:33767 rdfs:label "cobalt group molecular entity" MONDO:0001315 rdfs:label "neurocirculatory asthenia" GO:0001227 rdfs:label "DNA-binding transcription repressor activity, RNA polymerase II-specific" @@ -28085,8 +28095,8 @@ UBERON:0001752 rdfs:label "enamel" http://identifiers.org/hgnc/10660 rdfs:label "SDC3" MONDO:0015439 rdfs:label "ring chromosome 4" UBERON:0001064 rdfs:label "ventral pancreatic duct" -http://identifiers.org/hgnc/11743 rdfs:label "TFAP2B" NCBITaxon:71274 rdfs:label "asterids" +http://identifiers.org/hgnc/11743 rdfs:label "TFAP2B" MONDO:0015615 rdfs:label "obsolete rare genetic gastroenterological disease" MONDO:0018838 rdfs:label "lissencephaly spectrum disorders" http://identifiers.org/hgnc/16255 rdfs:label "TGM6" @@ -28110,7 +28120,6 @@ MONDO:0008689 rdfs:label "dehydrated hereditary stomatocytosis with or without p MONDO:0018754 rdfs:label "cyanide poisoning" MONDO:0009635 rdfs:label "microvillus inclusion disease" SO:0000325 rdfs:label "rRNA_large_subunit_primary_transcript" -http://identifiers.org/hgnc/12910 rdfs:label "MKRN3-AS1" MONDO:0030313 rdfs:label "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10" GO:1904409 rdfs:label "regulation of secretory granule organization" MONDO:0100240 rdfs:label "inherited thrombophilia" @@ -28158,8 +28167,8 @@ HP:0000953 rdfs:label "Hyperpigmentation of the skin" MONDO:0019281 rdfs:label "isolated genetic hair shaft abnormality" MONDO:0021465 rdfs:label "benign neoplasm of appendix" MONDO:0000380 rdfs:label "paranasal sinus carcinoma" -MONDO:0014728 rdfs:label "combined oxidative phosphorylation defect type 27" MONDO:0005866 rdfs:label "mycobacterium avium complex disease" +MONDO:0014728 rdfs:label "combined oxidative phosphorylation defect type 27" MONDO:0003432 rdfs:label "strabismus" MONDO:0020268 rdfs:label "obsolete ichthyosis associated with ocular features" MONDO:0006949 rdfs:label "retinal drusen" @@ -28202,8 +28211,8 @@ MONDO:0006541 rdfs:label "epidermolysis bullosa" MONDO:0019218 rdfs:label "inborn disorder of bile acid synthesis" UBERON:0006715 rdfs:label "radio-ulna" CL:1001005 rdfs:label "glomerular capillary endothelial cell" -MONDO:0013190 rdfs:label "factor XIII, b subunit, deficiency of" MONDO:0040797 rdfs:label "obsolete vascular headache" +MONDO:0013190 rdfs:label "factor XIII, b subunit, deficiency of" GO:0099578 rdfs:label "regulation of translation at postsynapse, modulating synaptic transmission" CHEBI:36277 rdfs:label "bile acid salt" http://identifiers.org/hgnc/26401 rdfs:label "MARVELD2" @@ -28215,8 +28224,8 @@ MONDO:0015134 rdfs:label "constitutional neutropenia" UBERON:0001557 rdfs:label "upper respiratory tract" UBERON:0011096 rdfs:label "lacrimal nerve" MONDO:0010095 rdfs:label "ataxia-tapetoretinal degeneration syndrome" -MONDO:0011041 rdfs:label "ectodermal dysplasia with natal teeth, Turnpenny type" MONDO:0006424 rdfs:label "soft tissue neoplasm" +MONDO:0011041 rdfs:label "ectodermal dysplasia with natal teeth, Turnpenny type" MONDO:0007982 rdfs:label "metaphyseal chondrodysplasia, Jansen type" HP:0011799 rdfs:label "Abnormality of facial soft tissue" MONDO:0009800 rdfs:label "Blount disease, adolescent" @@ -28251,10 +28260,10 @@ http://identifiers.org/hgnc/6932 rdfs:label "MC4R" GO:0002581 rdfs:label "negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II" UBERON:0004489 rdfs:label "musculature of manus" PATO:0002071 rdfs:label "increased affinity" -http://identifiers.org/hgnc/3481 rdfs:label "ETFA" NCBITaxon:6211 rdfs:label "Echinococcus multilocularis" -MONDO:0012549 rdfs:label "autosomal recessive ataxia, Beauce type" MONDO:0022338 rdfs:label "ALK+ histiocytosis" +http://identifiers.org/hgnc/3481 rdfs:label "ETFA" +MONDO:0012549 rdfs:label "autosomal recessive ataxia, Beauce type" MONDO:0001253 rdfs:label "obsolete solar retinopathy" MONDO:0017649 rdfs:label "hemidystonia-hemiatrophy syndrome" MONDO:0007156 rdfs:label "arthritis, sacroiliac" @@ -28428,8 +28437,8 @@ MONDO:0009794 rdfs:label "orofaciodigital syndrome IV" MONDO:0042962 rdfs:label "Slti-Salem syndrome" GO:0022602 rdfs:label "ovulation cycle process" MONDO:0014349 rdfs:label "pontocerebellar hypoplasia type 10" -MONDO:0013286 rdfs:label "immunodeficiency, common variable, 6" UBERON:0012504 rdfs:label "adventitia of esophagus" +MONDO:0013286 rdfs:label "immunodeficiency, common variable, 6" MONDO:0018097 rdfs:label "West syndrome" NCBITaxon:30005 rdfs:label "Anoplura" MONDO:0014232 rdfs:label "craniosynostosis 5, susceptibility to" @@ -28448,8 +28457,8 @@ MONDO:0008728 rdfs:label "classic congenital adrenal hyperplasia due to 21-hydro UBERON:0003055 rdfs:label "periderm" MONDO:0011137 rdfs:label "retinitis pigmentosa 19" UBERON:0009615 rdfs:label "midbrain hindbrain boundary neural plate" -UBERON:0036243 rdfs:label "vaginal fluid" MONDO:0008611 rdfs:label "humerus trochlea aplasia" +UBERON:0036243 rdfs:label "vaginal fluid" GO:0099522 rdfs:label "cytosolic region" CL:1000456 rdfs:label "mesothelial cell of parietal peritoneum" MONDO:0015414 rdfs:label "paramedian nasal cleft" @@ -28457,15 +28466,15 @@ MONDO:0009122 rdfs:label "Dohle bodies and leukemia" MONDO:0016972 rdfs:label "partial duplication of the long arm of chromosome 22" MONDO:0016625 rdfs:label "acquired deficiency anemia" FOODON:00001053 rdfs:label "fermented dairy food product"@en -http://identifiers.org/hgnc/20001 rdfs:label "PCSK9" UBERON:0004947 rdfs:label "submucosa of right main bronchus" +http://identifiers.org/hgnc/20001 rdfs:label "PCSK9" MONDO:0010399 rdfs:label "chromosome Xp21 deletion syndrome" UBERON:0001724 rdfs:label "sphenoidal sinus" http://identifiers.org/hgnc/3694 rdfs:label "FGG" MONDO:0016801 rdfs:label "mitochondrial substrate carrier disorder" +UBERON:0018234 rdfs:label "stroma of pancreas" UBERON:0003924 rdfs:label "ventral pancreatic bud" MONDO:0020464 rdfs:label "euryblepharon" -UBERON:0018234 rdfs:label "stroma of pancreas" GO:0043230 rdfs:label "extracellular organelle" MONDO:0021506 rdfs:label "benign neoplasm of spinal cord" MONDO:0005539 rdfs:label "small bowel Crohn disease" @@ -28527,7 +28536,7 @@ http://identifiers.org/hgnc/8851 rdfs:label "PEX10" MONDO:0016217 rdfs:label "mal de Debarquement" MONDO:0024385 rdfs:label "obsolete arenavirus infectious disease" MONDO:0013910 rdfs:label "hypogonadotropic hypogonadism 8 with or without anosmia" -MONDO:0020056 rdfs:label "uniparental disomy of maternal origin" +MONDO:0020056 rdfs:label "obsolete uniparental disomy of maternal origin" MONDO:0015330 rdfs:label "overgrowth/obesity syndrome" MONDO:0012452 rdfs:label "autosomal recessive nonsyndromic hearing loss 65" http://identifiers.org/hgnc/30764 rdfs:label "TRAIP" @@ -28598,10 +28607,10 @@ UBERON:0010358 rdfs:label "arch of centrum of vertebra" MONDO:0021474 rdfs:label "benign neoplasm of ear" MONDO:0007187 rdfs:label "nevoid basal cell carcinoma syndrome" GO:0007272 rdfs:label "ensheathment of neurons" +UBERON:0005423 rdfs:label "developing anatomical structure" GO:0072524 rdfs:label "pyridine-containing compound metabolic process" NCBITaxon:204429 rdfs:label "Chlamydiia" MONDO:0010564 rdfs:label "red-green color blindness" -UBERON:0005423 rdfs:label "developing anatomical structure" MONDO:0005875 rdfs:label "Newcastle disease" MONDO:0004621 rdfs:label "upper lip cancer" GO:0032432 rdfs:label "actin filament bundle" @@ -28681,8 +28690,8 @@ UBERON:0006590 rdfs:label "remnant of embryonic structure" MONDO:0015839 rdfs:label "septate uterus" MONDO:0006865 rdfs:label "necrotizing ulcerative gingivitis" UBERON:0035539 rdfs:label "esophageal artery" -UBERON:0001753 rdfs:label "cementum" IAO:0000102 rdfs:label "data about an ontology part"@en +UBERON:0001753 rdfs:label "cementum" GO:0016012 rdfs:label "sarcoglycan complex" MONDO:0004929 rdfs:label "constant exophthalmos" NCBITaxon:11039 rdfs:label "Western equine encephalitis virus" @@ -28819,9 +28828,9 @@ MONDO:0016576 rdfs:label "split hand-foot malformation" http://identifiers.org/hgnc/11098 rdfs:label "SMARCA2" UBERON:0006716 rdfs:label "mesopodium region" MONDO:0013698 rdfs:label "arthrogryposis, distal, type 1B" -UBERON:0000033 rdfs:label "head" HP:0008047 rdfs:label "Abnormality of the vasculature of the eye" MONDO:0017522 rdfs:label "hyperphalangy, bilateral" +UBERON:0000033 rdfs:label "head" GO:0045190 rdfs:label "isotype switching" MONDO:0045044 rdfs:label "ligament disorder" http://identifiers.org/hgnc/10297 rdfs:label "RPIA" @@ -28976,8 +28985,8 @@ MONDO:0021631 rdfs:label "brain astrocytoma" MONDO:0013287 rdfs:label "agammaglobulinemia 2, autosomal recessive" GO:0010975 rdfs:label "regulation of neuron projection development" MONDO:0100233 rdfs:label "long COVID-19" -MONDO:0012921 rdfs:label "type 1 diabetes mellitus 22" UBERON:0003507 rdfs:label "arm blood vessel" +MONDO:0012921 rdfs:label "type 1 diabetes mellitus 22" OGMS:0000063 rdfs:label "disease course" MONDO:0002916 rdfs:label "brainstem intraparenchymal clear cell meningioma" CHEBI:16189 rdfs:label "sulfate" @@ -29049,8 +29058,8 @@ GO:0043231 rdfs:label "intracellular membrane-bounded organelle" MONDO:0000444 rdfs:label "obsolete ARC syndrome" MONDO:0003667 rdfs:label "obsolete spermatocytoma" MONDO:0002897 rdfs:label "secondary syphilis" -MONDO:0035117 rdfs:label "PUM1-associated developmental disability-ataxia-seizure syndrome" http://identifiers.org/hgnc/4539 rdfs:label "GPR88" +MONDO:0035117 rdfs:label "PUM1-associated developmental disability-ataxia-seizure syndrome" MONDO:0004186 rdfs:label "cranial nodular fasciitis" http://identifiers.org/hgnc/18340 rdfs:label "WDR19" MONDO:0003843 rdfs:label "cerebral hemisphere lipoma" @@ -29066,12 +29075,12 @@ MONDO:0024386 rdfs:label "large cell lung carcinoma, clear cell variant" MONDO:0013911 rdfs:label "hypogonadotropic hypogonadism 9 with or without anosmia" NCBITaxon:37124 rdfs:label "Chikungunya virus" MONDO:0000327 rdfs:label "Buruli ulcer disease" +NCBITaxon:2560074 rdfs:label "Mammantavirinae" MONDO:0001885 rdfs:label "lateral cystocele" MONDO:0007788 rdfs:label "hypertriglyceridemia, familial" -NCBITaxon:2560074 rdfs:label "Mammantavirinae" http://identifiers.org/hgnc/30765 rdfs:label "TNIK" -MONDO:0004069 rdfs:label "inborn mitochondrial metabolism disorder" MONDO:0015636 rdfs:label "dirofilariasis" +MONDO:0004069 rdfs:label "inborn mitochondrial metabolism disorder" MONDO:0009691 rdfs:label "mycosis fungoides" MONDO:0009344 rdfs:label "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome" UBERON:0005875 rdfs:label "4th arch pharyngeal cleft" @@ -29106,7 +29115,7 @@ MONDO:0016218 rdfs:label "Guillain-Barre syndrome" MONDO:0003110 rdfs:label "skin hemangioma" CHR:9606-chr5p rdfs:label "5p (Human)" MONDO:0001059 rdfs:label "gastric lymphoma" -MONDO:0020057 rdfs:label "uniparental disomy of paternal origin" +MONDO:0020057 rdfs:label "obsolete uniparental disomy of paternal origin" GO:0044381 rdfs:label "glucose import in response to insulin stimulus" UBERON:0010893 rdfs:label "median external naris" CHR:9606-chr2q37 rdfs:label "2q37 (Human)" @@ -29146,11 +29155,11 @@ MONDO:0004435 rdfs:label "liver fibrosarcoma" UBERON:0036244 rdfs:label "secretion of serous membrane" MONDO:0005993 rdfs:label "Trichomonas vaginitis urogenital infection" MONDO:0001317 rdfs:label "phlyctenulosis" -MONDO:0021662 rdfs:label "bile duct neoplasm" CL:1000457 rdfs:label "mesothelial cell of visceral peritoneum" +MONDO:0021662 rdfs:label "bile duct neoplasm" MONDO:0009123 rdfs:label "dopamine beta-hydroxylase deficiency" -http://identifiers.org/hgnc/118 rdfs:label "ACO2" MONDO:0016626 rdfs:label "hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency" +http://identifiers.org/hgnc/118 rdfs:label "ACO2" MONDO:0016802 rdfs:label "mitochondrial protein import disorder" http://identifiers.org/hgnc/20422 rdfs:label "POLR1D" GO:0050789 rdfs:label "regulation of biological process" @@ -29255,8 +29264,8 @@ GO:0007346 rdfs:label "regulation of mitotic cell cycle" MONDO:0019788 rdfs:label "non-secreting paraganglioma" UBERON:0002299 rdfs:label "alveolus of lung" http://identifiers.org/hgnc/6483 rdfs:label "LAMA3" -MONDO:0013222 rdfs:label "Miyoshi muscular dystrophy 3" GO:0042304 rdfs:label "regulation of fatty acid biosynthetic process" +MONDO:0013222 rdfs:label "Miyoshi muscular dystrophy 3" MONDO:0011910 rdfs:label "obsolete autosomal dominant limb-girdle muscular dystrophy type 1C" MONDO:0002195 rdfs:label "vulvar squamous neoplasm" MONDO:0008098 rdfs:label "mesomelic dwarfism, Nievergelt type" @@ -29376,8 +29385,8 @@ MONDO:0009637 rdfs:label "inborn mitochondrial myopathy" CHEBI:30102 rdfs:label "diazynium" MONDO:0018068 rdfs:label "trisomy 13" NCBITaxon:6213 rdfs:label "Echinococcus vogeli" -HP:0010301 rdfs:label "Spinal dysraphism" GO:0033267 rdfs:label "obsolete axon part" +HP:0010301 rdfs:label "Spinal dysraphism" ECTO:0000515 rdfs:label "exposure to herbicide" http://identifiers.org/hgnc/3721 rdfs:label "FKBP5" MONDO:0021077 rdfs:label "cystic neoplasm" @@ -29408,16 +29417,16 @@ UBERON:0010065 rdfs:label "auditory meatus epithelium" MONDO:0044284 rdfs:label "obsolete blood group, gerbich system" CL:0002427 rdfs:label "resting double-positive thymocyte" NCBITaxon:119068 rdfs:label "Spirillaceae" -GO:0032106 rdfs:label "positive regulation of response to extracellular stimulus" MONDO:0043116 rdfs:label "iida kannari syndrome" +GO:0032106 rdfs:label "positive regulation of response to extracellular stimulus" MONDO:0042972 rdfs:label "meningococcemia" PATO:0001018 rdfs:label "physical quality" MONDO:0016297 rdfs:label "prelingual non-syndromic genetic hearing loss" MONDO:0015541 rdfs:label "genetic hemophagocytic lymphohistiocytosis" MONDO:0019283 rdfs:label "nail anomaly" MONDO:0004631 rdfs:label "tongue cancer" -MONDO:0021467 rdfs:label "benign neoplasm of renal pelvis" MONDO:0018326 rdfs:label "transient neonatal myasthenia gravis" +MONDO:0021467 rdfs:label "benign neoplasm of renal pelvis" MONDO:0000382 rdfs:label "respiratory system benign neoplasm" CHEBI:23443 rdfs:label "cyclic amide" CHEBI:26666 rdfs:label "short-chain fatty acid" @@ -29455,9 +29464,10 @@ MONDO:0004852 rdfs:label "gonococcal keratitis" http://identifiers.org/hgnc/10922 rdfs:label "SLC16A1" UBERON:0036925 rdfs:label "wall of eyeball" MONDO:0014594 rdfs:label "autosomal dominant nonsyndromic hearing loss 67" -UBERON:0035884 rdfs:label "maxillary-premaxillary suture" +MONDO:8000023 rdfs:label "type 3 autoimmune lymphoproliferative syndrome" MONDO:0025425 rdfs:label "hepatitis, infectious canine" HP:0002633 rdfs:label "Vasculitis" +UBERON:0035884 rdfs:label "maxillary-premaxillary suture" SO:0001265 rdfs:label "miRNA_gene" NCBITaxon:11095 rdfs:label "Pestivirus" MONDO:0032578 rdfs:label "cortical dysplasia, complex, with other brain malformations 9" @@ -29531,10 +29541,10 @@ GO:0042745 rdfs:label "circadian sleep/wake cycle" MONDO:0100305 rdfs:label "bile acid CoA:amino acid N-acyltransferase deficiency" MONDO:0010723 rdfs:label "retinitis pigmentosa 2" MONDO:0001857 rdfs:label "Brucella canis brucellosis" -FOODON:00002244 rdfs:label "snail food product"@en MONDO:0019452 rdfs:label "myeloproliferative neoplasm, unclassifiable" -CL:0000381 rdfs:label "neurosecretory neuron" +FOODON:00002244 rdfs:label "snail food product"@en MONDO:0019105 rdfs:label "renal nutcracker syndrome" +CL:0000381 rdfs:label "neurosecretory neuron" MONDO:0015388 rdfs:label "polyrrhinia" UBERON:0003441 rdfs:label "forelimb nerve" MONDO:0009796 rdfs:label "ornithine aminotransferase deficiency" @@ -29626,11 +29636,11 @@ HP:0002035 rdfs:label "Rectal prolapse" MONDO:0001678 rdfs:label "intestinal tuberculosis" UBERON:0007811 rdfs:label "craniocervical region" MONDO:0008205 rdfs:label "patella aplasia/hypoplasia" -MONDO:0700033 rdfs:label "complete trisomy 13" MONDO:0002624 rdfs:label "bone leiomyosarcoma" ENVO:00001995 rdfs:label "rock" MONDO:0010470 rdfs:label "obsolete Baratela-Scott syndrome" HP:0045014 rdfs:label "Hypolipidemia" +MONDO:0700033 rdfs:label "complete trisomy 13" CHEBI:50967 rdfs:label "non-covalently-bound molecular entity" MONDO:0022622 rdfs:label "CDG syndrome type 4" MONDO:0007008 rdfs:label "uremia" @@ -29658,12 +29668,12 @@ MONDO:0000738 rdfs:label "obsolete syndromic X-linked intellectual disability" ECTO:4000025 rdfs:label "exposure to increased pressure" MONDO:0024574 rdfs:label "von Willebrand disease (hereditary or acquired)" UBERON:0004916 rdfs:label "anal sphincter" -MONDO:0015167 rdfs:label "amniotic band syndrome" MONDO:0033651 rdfs:label "mitochondrial complex 4 deficiency, nuclear type 16" +MONDO:0015167 rdfs:label "amniotic band syndrome" MONDO:0030498 rdfs:label "immunodeficiency 92" +GO:0031947 rdfs:label "negative regulation of glucocorticoid biosynthetic process" MONDO:0016241 rdfs:label "alternating hemiplegia of childhood" MONDO:0012289 rdfs:label "myofibrillar myopathy 5" -GO:0031947 rdfs:label "negative regulation of glucocorticoid biosynthetic process" http://identifiers.org/hgnc/7516 rdfs:label "MUC5B" MONDO:0019758 rdfs:label "midline interhemispheric variant of holoprosencephaly" MONDO:0012924 rdfs:label "Diamond-Blackfan anemia 4" @@ -29704,9 +29714,9 @@ MONDO:0002227 rdfs:label "ovarian lymphoma" MONDO:0001457 rdfs:label "secondary vitreoretinal degeneration" UBERON:0008801 rdfs:label "parotid gland primordium" MONDO:0002403 rdfs:label "synovium cancer" -MONDO:0023655 rdfs:label "immunodeficiency 14b, autosomal recessive" GO:0034404 rdfs:label "nucleobase-containing small molecule biosynthetic process" MONDO:0011460 rdfs:label "arrhythmogenic right ventricular dysplasia 6" +MONDO:0023655 rdfs:label "immunodeficiency 14b, autosomal recessive" MONDO:0022401 rdfs:label "agyria pachygyria polymicrogyria" UBERON:0003057 rdfs:label "chordal neural plate" MONDO:0012745 rdfs:label "dilated cardiomyopathy 1Z" @@ -29786,16 +29796,16 @@ http://identifiers.org/hgnc/9201 rdfs:label "POMC" MONDO:0002783 rdfs:label "Shwartzman phenomenon" CL:0000186 rdfs:label "myofibroblast cell" UBERON:0003246 rdfs:label "epithelium of endolymphatic sac" -http://identifiers.org/hgnc/29347 rdfs:label "KLHL15" HsapDv:0000100 rdfs:label "6-year-old human stage" +http://identifiers.org/hgnc/29347 rdfs:label "KLHL15" MONDO:0011306 rdfs:label "muscular dystrophy, congenital, with cerebellar atrophy" UBERON:0002183 rdfs:label "lobar bronchus" MONDO:0016406 rdfs:label "obsolete other metabolic disease with epilepsy" MONDO:0060777 rdfs:label "cervical fibroepithelial polyp" -CHEBI:18085 rdfs:label "glycosaminoglycan" MONDO:0013506 rdfs:label "schizophrenia 16" MONDO:0007471 rdfs:label "Doyne honeycomb retinal dystrophy" ENVO:01000883 rdfs:label "area of developed open space"@en +CHEBI:18085 rdfs:label "glycosaminoglycan" MONDO:0008802 rdfs:label "antithrombin, familial hemorrhagic diathesis due to" UBERON:0004383 rdfs:label "epiphysis of tibia" UBERON:0010243 rdfs:label "merocrine gland" @@ -29819,10 +29829,10 @@ MONDO:0010683 rdfs:label "X-linked centronuclear myopathy" CHEBI:16199 rdfs:label "urea" MONDO:0033682 rdfs:label "skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome" MONDO:0016272 rdfs:label "transitional cell carcinoma of the corpus uteri" -MONDO:0043125 rdfs:label "mcpherson robertson cammarano syndrome" MONDO:0019789 rdfs:label "cytophagic histiocytic panniculitis" http://identifiers.org/hgnc/8621 rdfs:label "PAX7" MONDO:0014960 rdfs:label "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" +MONDO:0043125 rdfs:label "mcpherson robertson cammarano syndrome" http://identifiers.org/hgnc/20423 rdfs:label "SPATA7" MONDO:0044683 rdfs:label "limbic encephalitis with neurexin-3 antibodies" http://identifiers.org/hgnc/6484 rdfs:label "LAMA4" @@ -29854,8 +29864,8 @@ MONDO:0021299 rdfs:label "carcinoma in situ of extrahepatic bile duct" MONDO:0001184 rdfs:label "chronic rapidly progressive glomerulonephritis" MONDO:0017209 rdfs:label "infectious posterior uveitis" NCIT:C35886 rdfs:label "Morphologic Architectural Pattern" -MONDO:0012057 rdfs:label "legionnaire disease, susceptibility to" MONDO:0016493 rdfs:label "variant of Guillain-Barre syndrome" +MONDO:0012057 rdfs:label "legionnaire disease, susceptibility to" http://identifiers.org/hgnc/4913 rdfs:label "HIP1" MONDO:0004560 rdfs:label "follicular infundibulum tumor" MONDO:0013444 rdfs:label "nephronophthisis 9" @@ -29887,8 +29897,8 @@ GO:0006954 rdfs:label "inflammatory response" GO:0050922 rdfs:label "negative regulation of chemotaxis" MONDO:0007063 rdfs:label "obsolete long bone adamantinoma" SO:0000733 rdfs:label "feature_attribute" -MONDO:0009189 rdfs:label "multiple epiphyseal dysplasia type 4" CHEBI:75763 rdfs:label "eukaryotic metabolite" +MONDO:0009189 rdfs:label "multiple epiphyseal dysplasia type 4" UBERON:0004119 rdfs:label "endoderm-derived structure" CL:0000036 rdfs:label "epithelial fate stem cell" PATO:0000146 rdfs:label "temperature" @@ -29955,7 +29965,7 @@ ECTO:0000516 rdfs:label "exposure to hormone" CHEBI:33465 rdfs:label "elemental pnictogen" CHEBI:36688 rdfs:label "heterotricyclic compound" MONDO:0015542 rdfs:label "secondary hemophagocytic lymphohistiocytosis" -MONDO:0009250 rdfs:label "fructose utilization" +MONDO:0009250 rdfs:label "obsolete fructose utilization" GO:0098642 rdfs:label "network-forming collagen trimer" MONDO:0021468 rdfs:label "benign neoplasm of adrenal medulla" MONDO:0008053 rdfs:label "myopia 2, autosomal dominant" @@ -30004,8 +30014,8 @@ GO:1905706 rdfs:label "regulation of mitochondrial ATP synthesis coupled proton MONDO:0010722 rdfs:label "X-linked retinal dysplasia" MONDO:0005071 rdfs:label "nervous system disorder" MONDO:0001856 rdfs:label "splenic artery aneurysm" -MONDO:0018477 rdfs:label "bilirubin encephalopathy" MONDO:0002081 rdfs:label "musculoskeletal system disorder" +MONDO:0018477 rdfs:label "bilirubin encephalopathy" MONDO:0021528 rdfs:label "benign neoplasm of male breast" MONDO:0005598 rdfs:label "dopaminergic neuroblastoma" MONDO:0000641 rdfs:label "obsolete cerebellar medulloblastoma" @@ -30030,6 +30040,7 @@ MONDO:0006427 rdfs:label "spindle cell melanoma" UBERON:0009132 rdfs:label "peroneus" MONDO:0007985 rdfs:label "metatarsus varus, type 1" MONDO:0014595 rdfs:label "developmental and epileptic encephalopathy, 30" +MONDO:8000024 rdfs:label "autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD" GO:0036293 rdfs:label "response to decreased oxygen levels" MONDO:0032579 rdfs:label "warburg-cinotti syndrome" http://identifiers.org/hgnc/2555 rdfs:label "CUL4B" @@ -30061,8 +30072,8 @@ FOODON:03414374 rdfs:label "bovine"@en MONDO:0017934 rdfs:label "aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome" MONDO:0015660 rdfs:label "sporadic fetal brain disruption sequence" MONDO:0042975 rdfs:label "pseudoachondroplastic dysplasia 2" -MONDO:0024583 rdfs:label "obsolete hernia" NCBITaxon:644 rdfs:label "Aeromonas hydrophila" +MONDO:0024583 rdfs:label "obsolete hernia" MONDO:0024973 rdfs:label "pneumonia, atypical interstitial, of cattle" CHEBI:62803 rdfs:label "fuel additive" MONDO:0012650 rdfs:label "Cernunnos-XLF deficiency" @@ -30113,8 +30124,8 @@ NCBITaxon:12086 rdfs:label "Human poliovirus 3" MONDO:0019453 rdfs:label "refractory cytopenia with multilineage dysplasia" MONDO:0015389 rdfs:label "supernumerary nostril" CHEBI:33302 rdfs:label "pnictogen molecular entity" -MONDO:0016463 rdfs:label "syndromic agammaglobulinemia" ECTO:4000024 rdfs:label "exposure to increased air pressure" +MONDO:0016463 rdfs:label "syndromic agammaglobulinemia" MONDO:0009797 rdfs:label "orotic aciduria" http://identifiers.org/hgnc/3033 rdfs:label "ATN1" MONDO:0044724 rdfs:label "3-methylglutaconic aciduria type 9" @@ -30151,10 +30162,10 @@ MONDO:0015755 rdfs:label "myopathy with hexagonally cross-linked tubular arrays" MONDO:0024617 rdfs:label "xanthogranuloma" MONDO:0004202 rdfs:label "adrenal medulla carcinoma" NCBITaxon:693996 rdfs:label "Alphacoronavirus" +NCBITaxon:41665 rdfs:label "Neopterygii" GO:0019319 rdfs:label "hexose biosynthetic process" MONDO:0021150 rdfs:label "obsolete genetic characteristic" MONDO:0003005 rdfs:label "macular retinal edema" -NCBITaxon:41665 rdfs:label "Neopterygii" MONDO:0001679 rdfs:label "obsolete crater-like holes of optic disc" MONDO:0002625 rdfs:label "Ewing sarcoma of bone" MONDO:0004248 rdfs:label "pediatric infratentorial ependymoma" @@ -30166,8 +30177,8 @@ http://identifiers.org/hgnc/6937 rdfs:label "MCCC2" GO:1902338 rdfs:label "negative regulation of apoptotic process involved in morphogenesis" GO:1904538 rdfs:label "regulation of glycolytic process through fructose-6-phosphate" GO:0042221 rdfs:label "response to chemical" -HP:0002153 rdfs:label "Hyperkalemia" GO:0045738 rdfs:label "negative regulation of DNA repair" +HP:0002153 rdfs:label "Hyperkalemia" GO:0140053 rdfs:label "mitochondrial gene expression" http://identifiers.org/hgnc/3529 rdfs:label "F11" MONDO:0015638 rdfs:label "benign partial epilepsy of infancy with complex partial seizures" @@ -30200,7 +30211,7 @@ MONDO:0016242 rdfs:label "hemoglobin C disease" MONDO:0019759 rdfs:label "epispadias" MONDO:0008206 rdfs:label "benign paroxysmal tonic upgaze of childhood with ataxia" http://identifiers.org/hgnc/7010 rdfs:label "MEN1" -MONDO:0022794 rdfs:label "chromosome 8 deletion" +MONDO:0022794 rdfs:label "obsolete chromosome 8 deletion" MONDO:0700034 rdfs:label "mosaic trisomy 13" CHEBI:33558 rdfs:label "alpha-amino-acid anion" HP:0002793 rdfs:label "Abnormal pattern of respiration" @@ -30293,8 +30304,8 @@ MONDO:0016975 rdfs:label "thymoma type AB" MONDO:0006482 rdfs:label "ureter small cell carcinoma" MONDO:0009999 rdfs:label "autosomal recessive Robinow syndrome" MONDO:0018673 rdfs:label "IgG4-related pachymeningitis" -MONDO:0014237 rdfs:label "autosomal recessive nonsyndromic hearing loss 76" MONDO:0000446 rdfs:label "midface dysplasia" +MONDO:0014237 rdfs:label "autosomal recessive nonsyndromic hearing loss 76" MONDO:0003669 rdfs:label "testicular seminoma" MONDO:0002899 rdfs:label "differentiating neuroblastoma" ECTO:0000001 rdfs:label "exposure to radiation" @@ -30315,11 +30326,11 @@ http://identifiers.org/hgnc/8854 rdfs:label "PEX12" http://identifiers.org/hgnc/8507 rdfs:label "OSMR" http://identifiers.org/hgnc/6233 rdfs:label "KCNC1" MONDO:0024388 rdfs:label "Clostridium infectious disease" +UBERON:0002478 rdfs:label "orbitosphenoid" MONDO:0015333 rdfs:label "progeroid syndrome" MONDO:0012455 rdfs:label "Kleefstra syndrome" GO:0006094 rdfs:label "gluconeogenesis" MONDO:0001887 rdfs:label "Allen-Masters syndrome" -UBERON:0002478 rdfs:label "orbitosphenoid" MONDO:0045016 rdfs:label "cholesterol catabolic process disease" NCBITaxon:2560076 rdfs:label "Orthoparamyxovirinae" MONDO:0030514 rdfs:label "leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy" @@ -30342,8 +30353,8 @@ MONDO:0011053 rdfs:label "intellectual disability-sparse hair-brachydactyly synd UBERON:0004917 rdfs:label "urethral sphincter" http://identifiers.org/hgnc/12370 rdfs:label "CEP41" MONDO:0013896 rdfs:label "Joubert syndrome 18" -MONDO:0029147 rdfs:label "spermatogenic failure 33" CHEBI:48360 rdfs:label "amphiprotic solvent" +MONDO:0029147 rdfs:label "spermatogenic failure 33" CHEBI:33253 rdfs:label "nucleon" MONDO:0006890 rdfs:label "parathyroid gland adenoma" http://identifiers.org/hgnc/29277 rdfs:label "ZNF687" @@ -30419,8 +30430,8 @@ MONDO:0024238 rdfs:label "cerebral degeneration" CHEBI:67079 rdfs:label "anti-inflammatory agent" MONDO:0009062 rdfs:label "cystic fibrosis-gastritis-megaloblastic anemia syndrome" MONDO:0003177 rdfs:label "prostate adenoid cystic carcinoma" -MONDO:0013328 rdfs:label "retinitis pigmentosa 58" CHEBI:50266 rdfs:label "prodrug" +MONDO:0013328 rdfs:label "retinitis pigmentosa 58" MONDO:0000611 rdfs:label "pre-malignant neoplasm" MONDO:0000928 rdfs:label "eyelid melanoma" MONDO:0014886 rdfs:label "severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome" @@ -30463,9 +30474,9 @@ MONDO:0000269 rdfs:label "obsolete inhalation anthrax" GO:0016477 rdfs:label "cell migration" CHEBI:37175 rdfs:label "organic hydride" CHR:9606-chr3 rdfs:label "chromosome 3 (Human)" +UBERON:0035809 rdfs:label "serous cavity" GO:0006955 rdfs:label "immune response" UBERON:0005396 rdfs:label "carotid artery segment" -UBERON:0035809 rdfs:label "serous cavity" http://identifiers.org/hgnc/12517 rdfs:label "UCP1" UBERON:0001068 rdfs:label "skin of back" MONDO:0005293 rdfs:label "flatfoot" @@ -30476,16 +30487,16 @@ MONDO:0020352 rdfs:label "multiple system atrophy, parkinsonian type" MONDO:0007322 rdfs:label "chondrodysplasia punctata, tibial-metacarpal type" http://identifiers.org/hgnc/9202 rdfs:label "POMT1" MONDO:0002784 rdfs:label "obsolete craniopharyngioma" -http://identifiers.org/hgnc/25481 rdfs:label "TRMU" MONDO:0023071 rdfs:label "enterovirus antenatal infection" MONDO:0020729 rdfs:label "autosomal recessive agammaglobulinemia 1" +http://identifiers.org/hgnc/25481 rdfs:label "TRMU" MONDO:0003730 rdfs:label "aleukemic leukemia" MONDO:0011914 rdfs:label "hypotrichosis-lymphedema-telangiectasia syndrome" GO:0050891 rdfs:label "multicellular organismal water homeostasis" GO:2001152 rdfs:label "negative regulation of renal water transport" UBERON:0002184 rdfs:label "segmental bronchus" -MONDO:0014361 rdfs:label "autism spectrum disorder due to AUTS2 deficiency" UBERON:0004384 rdfs:label "epiphysis of femur" +MONDO:0014361 rdfs:label "autism spectrum disorder due to AUTS2 deficiency" MONDO:0100361 rdfs:label "lip herpes simplex type 1 infectious disorder" GO:0050806 rdfs:label "positive regulation of synaptic transmission" MONDO:0000792 rdfs:label "obsolete zebrafish allergy" @@ -30571,8 +30582,8 @@ MONDO:0005800 rdfs:label "hordeolum" http://identifiers.org/hgnc/12519 rdfs:label "UCP3" MONDO:0020202 rdfs:label "obsolete conjunctival lymphangiectasia" ENVO:01000277 rdfs:label "water ice" -SO:0001267 rdfs:label "snoRNA_gene" MONDO:0002634 rdfs:label "liposarcoma of bone" +SO:0001267 rdfs:label "snoRNA_gene" CL:2000073 rdfs:label "migratory cardiac neural crest cell" http://identifiers.org/hgnc/6663 rdfs:label "LORICRIN" UBERON:0013506 rdfs:label "cervical vertebra pre-cartilage condensation" @@ -30588,10 +30599,10 @@ MONDO:0000642 rdfs:label "brain meningioma" MONDO:0007799 rdfs:label "hypophosphatemic bone disease" MONDO:0006545 rdfs:label "erythema multiforme" MONDO:0024280 rdfs:label "polyarticular arthritis" +MONDO:0030013 rdfs:label "immunodeficiency 66" HP:0004308 rdfs:label "Ventricular arrhythmia" MONDO:0009355 rdfs:label "Hooft disease" http://identifiers.org/hgnc/697 rdfs:label "ARL6IP1" -MONDO:0030013 rdfs:label "immunodeficiency 66" MONDO:0015951 rdfs:label "hereditary photodermatosis" MONDO:0044723 rdfs:label "3-methylglutaconic aciduria type 8" MONDO:0008975 rdfs:label "otospondylomegaepiphyseal dysplasia" @@ -30622,8 +30633,8 @@ UBERON:0015152 rdfs:label "gland of ocular region" UBERON:0011850 rdfs:label "acinus of salivary gland" MONDO:0016579 rdfs:label "dominant hypophosphatemia with nephrolithiasis or osteoporosis" MONDO:0043181 rdfs:label "obsolete Refsum disease with increased pipecolic acidemia" -CHR:9606-chr10q23 rdfs:label "10q23 (Human)" GO:0016505 rdfs:label "peptidase activator activity involved in apoptotic process" +CHR:9606-chr10q23 rdfs:label "10q23 (Human)" UBERON:0007175 rdfs:label "inferior angle of scapula" MONDO:0018712 rdfs:label "composite hemangioendothelioma" http://identifiers.org/hgnc/4223 rdfs:label "MSTN" @@ -30690,16 +30701,16 @@ http://identifiers.org/hgnc/4288 rdfs:label "GJB6" MONDO:0044725 rdfs:label "combined immunodeficiency due to GINS1 deficiency" http://identifiers.org/hgnc/6524 rdfs:label "LCK" MONDO:0012371 rdfs:label "Noonan syndrome 3" -MONDO:0019840 rdfs:label "acropectororenal dysplasia" http://identifiers.org/hgnc/10809 rdfs:label "SGCG" +MONDO:0019840 rdfs:label "acropectororenal dysplasia" ENVO:01001679 rdfs:label "fluid front"@en MONDO:0003006 rdfs:label "obsolete Bartter disease" MONDO:0000090 rdfs:label "progressive external ophthalmoplegia with mitochondrial DNA deletions" MONDO:0008578 rdfs:label "toe, rotated fifth" MONDO:0002290 rdfs:label "clitoris cancer" http://identifiers.org/hgnc/17761 rdfs:label "TREM2" -MONDO:0004249 rdfs:label "pediatric supratentorial ependymoma" MONDO:0018990 rdfs:label "obsolete pulmonary blastoma" +MONDO:0004249 rdfs:label "pediatric supratentorial ependymoma" MONDO:0018643 rdfs:label "susceptibility to localized juvenile periodontitis" MONDO:0009524 rdfs:label "intellectual disability-spasticity-ectrodactyly syndrome" MONDO:0008754 rdfs:label "alopecia - contractures - dwarfism - intellectual disability syndrome" @@ -30808,8 +30819,8 @@ UBERON:0003443 rdfs:label "thoracic cavity nerve" MONDO:0016464 rdfs:label "insulin-resistance syndrome type B" MONDO:0009798 rdfs:label "intellectual disability-cataracts-calcified pinnae-myopathy syndrome" UBERON:0016928 rdfs:label "metaphysis of fibula" -MONDO:0017410 rdfs:label "porencephaly" GO:0002437 rdfs:label "inflammatory response to antigenic stimulus" +MONDO:0017410 rdfs:label "porencephaly" MONDO:0008428 rdfs:label "septooptic dysplasia" GO:0099643 rdfs:label "signal release from synapse" HP:0009755 rdfs:label "Ankyloblepharon" @@ -30823,9 +30834,9 @@ MONDO:0001459 rdfs:label "radial neuropathy" CHEBI:65255 rdfs:label "food preservative" MONDO:0020140 rdfs:label "obsolete late-onset ataxia with dementia" UBERON:0001485 rdfs:label "knee joint" +NCBITaxon:6939 rdfs:label "Ixodidae" MONDO:0011462 rdfs:label "pyogenic arthritis-pyoderma gangrenosum-acne syndrome" MONDO:0023657 rdfs:label "intellectual developmental disorder, autosomal dominant 65" -NCBITaxon:6939 rdfs:label "Ixodidae" UBERON:0003059 rdfs:label "presomitic mesoderm" NCIT:C15290 rdfs:label "Ostomy" MONDO:0016651 rdfs:label "maternal uniparental disomy of chromosome 1" @@ -30919,8 +30930,8 @@ http://identifiers.org/hgnc/17158 rdfs:label "PLD3" MONDO:0014459 rdfs:label "Adams-Oliver syndrome 5" MONDO:0014635 rdfs:label "microphthalmia, isolated, with coloboma 10" CHEBI:30099 rdfs:label "diazynediium" -CHEBI:139590 rdfs:label "primary alpha-hydroxy ketone" MF:0000031 rdfs:label "cognitive representation" +CHEBI:139590 rdfs:label "primary alpha-hydroxy ketone" CL:0000188 rdfs:label "cell of skeletal muscle" MONDO:0010109 rdfs:label "tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities" MONDO:0018383 rdfs:label "osteonecrosis of genetic origin" @@ -30962,8 +30973,8 @@ MONDO:0003562 rdfs:label "rete testis neoplasm" MONDO:0020750 rdfs:label "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2" http://identifiers.org/hgnc/19139 rdfs:label "POMGNT1" MONDO:0015608 rdfs:label "acute myeloid leukemia and myelodysplastic syndromes related to radiation" -GO:0034219 rdfs:label "carbohydrate transmembrane transport" UBERON:0001650 rdfs:label "hypoglossal nerve" +GO:0034219 rdfs:label "carbohydrate transmembrane transport" MONDO:0043127 rdfs:label "mehta lewis patton syndrome" MONDO:0044685 rdfs:label "autoimmune/inflammatory optic neuropathy" MONDO:0000449 rdfs:label "obsolete Opitz-GBBB syndrome" @@ -31020,7 +31031,7 @@ http://identifiers.org/hgnc/28956 rdfs:label "GPD1L" MONDO:0045017 rdfs:label "cholesterol biosynthetic process disease" MONDO:0007065 rdfs:label "obsolete adenosine deaminase, elevated, hemolytic anemia due to" MONDO:0021160 rdfs:label "gonococcal cystitis" -MONDO:0009930 rdfs:label "pulmonary arteriovenous malformation" +MONDO:0009930 rdfs:label "obsolete pulmonary arteriovenous malformation" NCBITaxon:444 rdfs:label "Legionellaceae" GO:1903034 rdfs:label "regulation of response to wounding" MONDO:0024649 rdfs:label "optic tract astrocytoma" @@ -31034,11 +31045,11 @@ MONDO:0060629 rdfs:label "neurodevelopmental disorder with or without hyperkinet MONDO:0005428 rdfs:label "obsolete pemphigus vulgaris" GO:0033239 rdfs:label "negative regulation of cellular amine metabolic process" MONDO:0012317 rdfs:label "visceral neuropathy, familial, 3, autosomal dominant" -MONDO:0007628 rdfs:label "foveal hypoplasia 1" UBERON:0035927 rdfs:label "sulcus of parietal lobe" +MONDO:0007628 rdfs:label "foveal hypoplasia 1" UBERON:0019206 rdfs:label "tongue papilla epithelium" -GO:1905215 rdfs:label "negative regulation of RNA binding" GO:0050892 rdfs:label "intestinal absorption" +GO:1905215 rdfs:label "negative regulation of RNA binding" MONDO:0006741 rdfs:label "encephalomalacia" http://identifiers.org/hgnc/17019 rdfs:label "PRICKLE1" http://identifiers.org/hgnc/914 rdfs:label "B2M" @@ -31062,17 +31073,17 @@ MONDO:0017489 rdfs:label "ulnar hemimelia, unilateral" MONDO:0016861 rdfs:label "Alagille syndrome due to 20p12 microdeletion" UBERON:0002011 rdfs:label "thoracodorsal artery" MONDO:0019580 rdfs:label "papular mucinosis of infancy" +MONDO:0043129 rdfs:label "merlob grunebaum reisner syndrome" MONDO:0013049 rdfs:label "DPM3-CDG" CL:0002083 rdfs:label "type I cell of adrenal medulla" -MONDO:0043129 rdfs:label "merlob grunebaum reisner syndrome" MONDO:0008670 rdfs:label "Waardenburg syndrome type 1" MONDO:0002785 rdfs:label "skull base neoplasm" UBERON:0003248 rdfs:label "epithelium of footplate" MONDO:0023072 rdfs:label "obsolete envenomization by Bothrops lanceolatus" MONDO:0003731 rdfs:label "adult central nervous system teratoma" UBERON:0002185 rdfs:label "bronchus" -CHEBI:57977 rdfs:label "bilirubin(2-)" MONDO:0001570 rdfs:label "obsolete locked-in syndrome" +CHEBI:57977 rdfs:label "bilirubin(2-)" MONDO:0007473 rdfs:label "Duane retraction syndrome" MONDO:0014362 rdfs:label "chromosome 16 inversion, 0.45-Mb" MONDO:0010850 rdfs:label "Tessier number 4 facial cleft" @@ -31153,17 +31164,17 @@ MONDO:0008520 rdfs:label "brachydactyly-elbow wrist dysplasia syndrome" MONDO:0002635 rdfs:label "periodontal disorder" SO:0001268 rdfs:label "snRNA_gene" MONDO:0012183 rdfs:label "melanoma, cutaneous malignant, susceptibility to, 3" -http://identifiers.org/hgnc/6664 rdfs:label "LOX" +UBERON:0013507 rdfs:label "thoracic vertebra cartilage element" GO:1905879 rdfs:label "regulation of oogenesis" +http://identifiers.org/hgnc/6664 rdfs:label "LOX" MONDO:0022633 rdfs:label "camptodactyly joint contractures and facial skeletal dysplasia" -UBERON:0013507 rdfs:label "thoracic vertebra cartilage element" MONDO:0021927 rdfs:label "arthrogryposis epileptic seizures migrational brain disorder" http://identifiers.org/hgnc/7610 rdfs:label "MYOC" MONDO:0007323 rdfs:label "Chondronectin" MONDO:0011739 rdfs:label "pancreatic cancer, susceptibility to, 1" -UBERON:0018143 rdfs:label "transverse process of cervical vertebra" MONDO:0011915 rdfs:label "mitral valve prolapse, myxomatous 2" GO:2001153 rdfs:label "positive regulation of renal water transport" +UBERON:0018143 rdfs:label "transverse process of cervical vertebra" UBERON:0001234 rdfs:label "left adrenal gland" UBERON:0002792 rdfs:label "lumbar spinal cord" MONDO:0030014 rdfs:label "muscular dystrophy, limb-girdle, autosomal recessive 26" @@ -31228,7 +31239,7 @@ CHEBI:33304 rdfs:label "chalcogen molecular entity" MONDO:0010303 rdfs:label "obsolete colobomatous microphthalmia" NCBITaxon:436486 rdfs:label "Dinosauria" MONDO:0044726 rdfs:label "psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome" -MONDO:0016946 rdfs:label "partial trisomy of the short arm of chromosome 9" +MONDO:0016946 rdfs:label "obsolete partial trisomy of the short arm of chromosome 9" UBERON:0019261 rdfs:label "white matter of forebrain" UBERON:0002224 rdfs:label "thoracic cavity" MONDO:0009135 rdfs:label "anemia, congenital dyserythropoietic, type 1a" @@ -31319,8 +31330,8 @@ MONDO:0012652 rdfs:label "autosomal recessive limb-girdle muscular dystrophy typ MONDO:0030045 rdfs:label "Liberfarb syndrome" http://identifiers.org/hgnc/6000 rdfs:label "IL1RN" GO:0010629 rdfs:label "negative regulation of gene expression" -MONDO:0002981 rdfs:label "peripheral primitive neuroectodermal tumor of bone" MONDO:0019108 rdfs:label "silent sinus syndrome" +MONDO:0002981 rdfs:label "peripheral primitive neuroectodermal tumor of bone" MONDO:0010305 rdfs:label "creatine transporter deficiency" MONDO:0017021 rdfs:label "obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease" http://identifiers.org/hgnc/583 rdfs:label "APC" @@ -31348,7 +31359,7 @@ MONDO:0007872 rdfs:label "LADD syndrome" UBERON:0006633 rdfs:label "coracoid process of scapula" MONDO:0019526 rdfs:label "erythema elevatum diutinum" NCBITaxon:186540 rdfs:label "Sudan ebolavirus" -MONDO:0008616 rdfs:label "twinning due to superfetation" +MONDO:0008616 rdfs:label "obsolete twinning due to superfetation" http://identifiers.org/hgnc/25532 rdfs:label "MTPAP" MONDO:0014857 rdfs:label "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" MONDO:0010881 rdfs:label "mesomelia-synostoses syndrome" @@ -31371,8 +31382,8 @@ MONDO:0017411 rdfs:label "neonatal inflammatory skin and bowel disease" http://identifiers.org/hgnc/4289 rdfs:label "GK" MONDO:0015250 rdfs:label "spinal atrophy-ophthalmoplegia-pyramidal syndrome" MONDO:0012372 rdfs:label "obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features" -MONDO:0019841 rdfs:label "pituitary hormone defiency from vascular origin" CL:1001577 rdfs:label "tonsil squamous cell" +MONDO:0019841 rdfs:label "pituitary hormone defiency from vascular origin" MONDO:0013455 rdfs:label "hypertrophic cardiomyopathy 16" ENVO:04000010 rdfs:label "soil surface layer"@en http://identifiers.org/hgnc/4172 rdfs:label "GATA3" @@ -31436,8 +31447,8 @@ MONDO:0011055 rdfs:label "distal monosomy 10p" MONDO:0002122 rdfs:label "neuritis" MONDO:0018518 rdfs:label "obsolete adenocarcinoma of the anal canal" UBERON:0004919 rdfs:label "external urethral sphincter" -MONDO:0033654 rdfs:label "mitochondrial complex 4 deficiency, nuclear type 19" http://identifiers.org/hgnc/12372 rdfs:label "TSHB" +MONDO:0033654 rdfs:label "mitochondrial complex 4 deficiency, nuclear type 19" MONDO:0016244 rdfs:label "atypical hemolytic-uremic syndrome" MONDO:0008208 rdfs:label "patella, familial recurrent dislocation of" HP:0002795 rdfs:label "Abnormal respiratory system physiology" @@ -31456,8 +31467,8 @@ MONDO:0014859 rdfs:label "developmental and epileptic encephalopathy, 37" MONDO:0024648 rdfs:label "optic tract meningioma" MONDO:0003563 rdfs:label "diffuse pulmonary fibrosis" UBERON:0004178 rdfs:label "aorta smooth muscle tissue" -MONDO:0044257 rdfs:label "obsolete lutheran null" MONDO:0032642 rdfs:label "arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development" +MONDO:0044257 rdfs:label "obsolete lutheran null" MONDO:0005490 rdfs:label "large artery stroke" HP:0100267 rdfs:label "Lip pit" UBERON:0005124 rdfs:label "metanephric proximal convoluted tubule" @@ -31683,16 +31694,16 @@ NCBITaxon:111527 rdfs:label "pseudomallei group" HP:0002164 rdfs:label "Nail dysplasia" MONDO:0019013 rdfs:label "non-histaminic angioedema" MONDO:0016370 rdfs:label "Marchiafava-Bignami disease" -MONDO:0030015 rdfs:label "bone marrow failure syndrome 6" MONDO:0009357 rdfs:label "humeroradial synostosis with craniofacial anomalies" +MONDO:0030015 rdfs:label "bone marrow failure syndrome 6" MONDO:0015953 rdfs:label "genetic central nervous system and retinal vascular disease" UBERON:0000038 rdfs:label "follicular fluid" GO:1904478 rdfs:label "regulation of intestinal absorption" MONDO:0002823 rdfs:label "obsolete thyroid gland medullary carcinoma" UBERON:0006595 rdfs:label "presumptive endoderm" GO:2000293 rdfs:label "negative regulation of defecation" -MONDO:0014176 rdfs:label "hypotonia, infantile, with psychomotor retardation and characteristic facies" UBERON:0010411 rdfs:label "retroperitoneal fat pad" +MONDO:0014176 rdfs:label "hypotonia, infantile, with psychomotor retardation and characteristic facies" HP:0011297 rdfs:label "Abnormal digit morphology" MONDO:0020403 rdfs:label "congenital mitral valve agenesis" MONDO:0011610 rdfs:label "dimethylglycine dehydrogenase deficiency" @@ -31735,8 +31746,8 @@ CL:0000100 rdfs:label "motor neuron" UBERON:0012423 rdfs:label "layer of microvilli" MONDO:0024312 rdfs:label "cancer of short bone of upper limb" MONDO:0008056 rdfs:label "myotonic dystrophy type 1" -MONDO:0011433 rdfs:label "anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome" UBERON:0001456 rdfs:label "face" +MONDO:0011433 rdfs:label "anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome" MONDO:0006744 rdfs:label "endolymphatic hydrops" MONDO:0013633 rdfs:label "encephalopathy, acute, infection-induced, susceptibility to, 4" UBERON:0002402 rdfs:label "pleural cavity" @@ -31793,12 +31804,12 @@ HP:0000458 rdfs:label "Anosmia" MONDO:0000457 rdfs:label "classical glioblastoma" GO:0060341 rdfs:label "regulation of cellular localization" http://identifiers.org/hgnc/12801 rdfs:label "XBP1" +UBERON:0010413 rdfs:label "parametrial fat pad" MONDO:0020846 rdfs:label "intellectual disability, autosomal recessive 64" MONDO:0014552 rdfs:label "lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome" -UBERON:0010413 rdfs:label "parametrial fat pad" MONDO:0004199 rdfs:label "vulvar keratinizing squamous cell carcinoma" -UBERON:0005658 rdfs:label "secondary palatal shelf epithelium" GO:0098647 rdfs:label "collagen beaded filament" +UBERON:0005658 rdfs:label "secondary palatal shelf epithelium" MONDO:0005145 rdfs:label "sporadic amyotrophic lateral sclerosis" MONDO:0004856 rdfs:label "rosacea conjunctivitis" MONDO:0009736 rdfs:label "Neu-Laxova syndrome 1" @@ -31900,13 +31911,13 @@ MONDO:0016466 rdfs:label "asbestosis" MONDO:0018580 rdfs:label "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome" GO:0015318 rdfs:label "inorganic molecular entity transmembrane transporter activity" NCBITaxon:31244 rdfs:label "Schistosomatoidea" -MONDO:0017412 rdfs:label "2q31.1 microduplication syndrome" +MONDO:0017412 rdfs:label "obsolete 2q31.1 microduplication syndrome" CHEBI:17578 rdfs:label "toluene" SO:1000183 rdfs:label "chromosome_structure_variation" MONDO:0013456 rdfs:label "constitutional megaloblastic anemia with severe neurologic disease" CHEBI:26835 rdfs:label "sulfur molecular entity" -http://identifiers.org/hgnc/4173 rdfs:label "GATA4" NCIT:C36753 rdfs:label "Neoplastic Epithelial Cell" +http://identifiers.org/hgnc/4173 rdfs:label "GATA4" MONDO:0014402 rdfs:label "severe neurodegenerative syndrome with lipodystrophy" GO:0045938 rdfs:label "positive regulation of circadian sleep/wake cycle, sleep" MONDO:0015064 rdfs:label "jejunal neuroendocrine tumor, well differentiated, low or intermediate grade" @@ -31940,11 +31951,11 @@ NCBITaxon:34620 rdfs:label "Dermacentor andersoni" UBERON:0016491 rdfs:label "vertebral centrum element" http://identifiers.org/hgnc/23419 rdfs:label "KIFBP" MONDO:0002292 rdfs:label "obsolete granular cell tumor" +UBERON:0004270 rdfs:label "lower leg connective tissue" GO:0050863 rdfs:label "regulation of T cell activation" MONDO:0017939 rdfs:label "classic multiminicore myopathy" http://identifiers.org/hgnc/17075 rdfs:label "TAB2" GO:0004618 rdfs:label "phosphoglycerate kinase activity" -UBERON:0004270 rdfs:label "lower leg connective tissue" NCBITaxon:123736 rdfs:label "Oestrus" NCBITaxon:2 rdfs:label "Bacteria" HP:0002156 rdfs:label "Homocystinuria" @@ -32012,8 +32023,8 @@ MONDO:0024321 rdfs:label "disorder of GPI anchor biosynthesis" MONDO:0008065 rdfs:label "nasal groove, familial transverse" ENVO:01001781 rdfs:label "part of a landmass"@en MONDO:0013059 rdfs:label "Aicardi-Goutieres syndrome 5" -UBERON:0010852 rdfs:label "fibula pre-cartilage condensation" MONDO:0008680 rdfs:label "Wilms tumor 2" +UBERON:0010852 rdfs:label "fibula pre-cartilage condensation" MONDO:0014005 rdfs:label "immunoglobulin-mediated membranoproliferative glomerulonephritis" MONDO:0012679 rdfs:label "autosomal recessive osteopetrosis 6" MFOMD:0000013 rdfs:label "depressed mood episode"@en @@ -32063,6 +32074,7 @@ MONDO:0024263 rdfs:label "neonatal aspiration syndrome" GO:0002829 rdfs:label "negative regulation of type 2 immune response" MONDO:0019686 rdfs:label "obsolete type 2 collagen-related bone disorder" GO:0008443 rdfs:label "phosphofructokinase activity" +MONDO:0100490 rdfs:label "breasts and/or nipples, aplasia or hypoplasia of, 1" HP:0004341 rdfs:label "Abnormality of vitamin B12 metabolism" NCIT:C12219 rdfs:label "Anatomic Structure, System, or Substance" UBERON:0014792 rdfs:label "musculature of pelvic complex" @@ -32072,10 +32084,10 @@ MONDO:0018489 rdfs:label "autoimmune encephalopathy with parasomnia and obstruct MONDO:0017235 rdfs:label "familial omphalocele syndrome with facial dysmorphism" MONDO:0015923 rdfs:label "acquired peripheral neuropathy" http://identifiers.org/hgnc/7794 rdfs:label "NFKB1" +HP:0003677 rdfs:label "Slowly progressive" MONDO:0006556 rdfs:label "hand dermatosis" MONDO:0005302 rdfs:label "attention deficit hyperactivity disorder, inattentive type" GO:0005840 rdfs:label "ribosome" -HP:0003677 rdfs:label "Slowly progressive" UBERON:0004771 rdfs:label "posterior nasal aperture" http://identifiers.org/hgnc/28958 rdfs:label "NUP93" MONDO:0045019 rdfs:label "lactation disease" @@ -32145,14 +32157,14 @@ MONDO:0020402 rdfs:label "congenital accessory mitral valve tissue" GO:2000825 rdfs:label "positive regulation of androgen receptor activity" MONDO:0006073 rdfs:label "adenomatoid odontogenic tumor" MONDO:0018268 rdfs:label "Medich giant platelet syndrome" -http://identifiers.org/hgnc/4847 rdfs:label "HCRT" ENVO:09200012 rdfs:label "temperature of soil" +http://identifiers.org/hgnc/4847 rdfs:label "HCRT" MONDO:0006159 rdfs:label "colorectal gastrointestinal stromal tumor" MONDO:0004761 rdfs:label "obsolete urethral diverticulum" UBERON:0002234 rdfs:label "proximal phalanx of manus" MONDO:0100247 rdfs:label "multiple congenital anomalies-hypotonia-seizures syndrome" -MONDO:0007546 rdfs:label "myeloproliferative disorder, chronic, with eosinophilia" MONDO:0010687 rdfs:label "nephrolithiasis, X-linked recessive, with renal failure" +MONDO:0007546 rdfs:label "myeloproliferative disorder, chronic, with eosinophilia" CL:0000120 rdfs:label "granule cell" MONDO:0020752 rdfs:label "myoclonic epilepsy, juvenile, susceptibility to, 1" MONDO:0003954 rdfs:label "angiokeratoma of Fordyce" @@ -32308,14 +32320,14 @@ MONDO:0003627 rdfs:label "rheumatic pulmonary valve disease" UBERON:0004218 rdfs:label "lower leg nerve" CL:0002104 rdfs:label "IgG-negative double negative memory B cell" NCBITaxon:11086 rdfs:label "Louping ill virus" -MONDO:0044351 rdfs:label "Schistosoma intercalatum infectious disease" GO:0033341 rdfs:label "regulation of collagen binding" +MONDO:0044351 rdfs:label "Schistosoma intercalatum infectious disease" UBERON:0008345 rdfs:label "ileal epithelium" MONDO:0016662 rdfs:label "idiopathic recurrent pericarditis" http://identifiers.org/hgnc/7939 rdfs:label "NPPA" MONDO:0013784 rdfs:label "lethal neonatal spasticity-epileptic encephalopathy syndrome" -UBERON:0010000 rdfs:label "multicellular anatomical structure" NCBITaxon:85604 rdfs:label "Amphiesmenoptera" +UBERON:0010000 rdfs:label "multicellular anatomical structure" CL:0011022 rdfs:label "fibroblast of skin of back" MONDO:0016150 rdfs:label "qualitative or quantitative defects of integrin alpha-7" http://identifiers.org/hgnc/10383 rdfs:label "RPS10" @@ -32356,15 +32368,15 @@ MONDO:0024283 rdfs:label "Demodex folliculitis" MONDO:0009358 rdfs:label "Hutterite cerebroosteonephrodysplasia syndrome" MONDO:0030018 rdfs:label "autoinflammation with episodic fever and lymphadenopathy" UBERON:0012239 rdfs:label "urinary bladder vasculature" -PATO:0001873 rdfs:label "cylindrical" http://identifiers.org/hgnc/19706 rdfs:label "ADAMTSL4" +PATO:0001873 rdfs:label "cylindrical" CL:0002274 rdfs:label "histamine secreting cell" MONDO:0019350 rdfs:label "hereditary spherocytosis" CHEBI:33906 rdfs:label "cobalt corrinoid" HP:0012865 rdfs:label "Abnormal sperm head morphology" +UBERON:0010414 rdfs:label "omental fat pad" MONDO:0014553 rdfs:label "Tenorio syndrome" ECTO:0001571 rdfs:label "exposure to mercury" -UBERON:0010414 rdfs:label "omental fat pad" MONDO:0001073 rdfs:label "idiopathic progressive polyneuropathy" MONDO:0023217 rdfs:label "obsolete gastro-enteropancreatic neuroendocrine tumor" MONDO:0005146 rdfs:label "post-traumatic stress disorder" @@ -32380,9 +32392,9 @@ MONDO:0012185 rdfs:label "spondylometaphyseal dysplasia, A4 type" http://identifiers.org/hgnc/7436 rdfs:label "MTHFR" UBERON:0035091 rdfs:label "extrinsic post-anal tail muscle" UBERON:0013509 rdfs:label "lumbar vertebra cartilage element" -UBERON:0001459 rdfs:label "skin of external ear" MONDO:0021929 rdfs:label "traumatic myositis ossificans" MONDO:0000868 rdfs:label "obsolete mitochondrial DNA depletion syndrome 6" +UBERON:0001459 rdfs:label "skin of external ear" HP:0011463 rdfs:label "Childhood onset" MONDO:0016536 rdfs:label "autosomal recessive lymphoproliferative disease" MONDO:0017610 rdfs:label "epidermolysis bullosa simplex" @@ -32467,8 +32479,8 @@ MONDO:0020617 rdfs:label "obsolete blood group--ok" MONDO:0010728 rdfs:label "SCARF syndrome" CHEBI:33306 rdfs:label "carbon group element atom" http://identifiers.org/hgnc/3600 rdfs:label "FBLN1" -GO:0032729 rdfs:label "positive regulation of interferon-gamma production" MONDO:0016467 rdfs:label "isotretinoin syndrome" +GO:0032729 rdfs:label "positive regulation of interferon-gamma production" MONDO:0011863 rdfs:label "prostate cancer aggressiveness quantitative trait locus on chromosome 19" NCBITaxon:31245 rdfs:label "Schistosomatidae" MONDO:0017413 rdfs:label "Reunion island Larsen syndrome" @@ -32478,8 +32490,8 @@ MONDO:0012374 rdfs:label "brachyphalangy, polydactyly, and tibial aplasia/hypopl UBERON:0002397 rdfs:label "maxilla" UBERON:0019263 rdfs:label "gray matter of hindbrain" MONDO:0019843 rdfs:label "pituitary hormone deficiency secondary to a granulomatous disease" -NCBITaxon:34621 rdfs:label "Dermacentor variabilis" MONDO:0013457 rdfs:label "Leber congenital amaurosis 15" +NCBITaxon:34621 rdfs:label "Dermacentor variabilis" http://identifiers.org/hgnc/4174 rdfs:label "GATA6" MONDO:0014403 rdfs:label "short stature due to GHSR deficiency" UBERON:0004426 rdfs:label "proximal epiphysis of fifth metacarpal bone" @@ -32571,10 +32583,10 @@ MONDO:0032644 rdfs:label "epidermodysplasia verruciformis, susceptibility to, 3" MONDO:0030047 rdfs:label "microcephaly, developmental delay, and brittle hair syndrome" MONDO:0003096 rdfs:label "deep hemangioma" UBERON:0013719 rdfs:label "dartos muscle of scrotum" +MONDO:0023094 rdfs:label "exogenous ochronosis" MONDO:0011278 rdfs:label "obsolete bile duct cysts" GO:0004339 rdfs:label "glucan 1,4-alpha-glucosidase activity" MONDO:0010024 rdfs:label "Beemer-Langer syndrome" -MONDO:0023094 rdfs:label "exogenous ochronosis" MONDO:0013247 rdfs:label "Fanconi renotubular syndrome 2" MONDO:0000530 rdfs:label "rectum adenoma" MONDO:0002983 rdfs:label "obsolete neuromuscular junction disease" @@ -32593,8 +32605,8 @@ MONDO:0005500 rdfs:label "congenital disorder of glycosylation type I" GO:0033007 rdfs:label "negative regulation of mast cell activation involved in immune response" MONDO:0007700 rdfs:label "hawkinsinuria" MONDO:0000812 rdfs:label "vertebral column disorder" -http://identifiers.org/hgnc/291 rdfs:label "ADSL" MONDO:0013626 rdfs:label "psoriasis 14, pustular" +http://identifiers.org/hgnc/291 rdfs:label "ADSL" UBERON:0007100 rdfs:label "primary circulatory organ" NCBITaxon:1760 rdfs:label "Actinomycetia" MONDO:0011465 rdfs:label "infundibulocystic basal cell carcinoma" @@ -32620,6 +32632,7 @@ UBERON:0013165 rdfs:label "epiglottic vallecula" MONDO:0013980 rdfs:label "palmoplantar keratoderma, punctate type ib" UBERON:0034705 rdfs:label "developing neuroepithelium" MONDO:0043468 rdfs:label "acne keloid" +MONDO:0100491 rdfs:label "generalized pustular psoriasis" MONDO:0021340 rdfs:label "intertrigo" MONDO:0017236 rdfs:label "rapidly progressive glomerulonephritis" http://identifiers.org/hgnc/3373 rdfs:label "EP300" @@ -32678,8 +32691,8 @@ MONDO:0013628 rdfs:label "hyperphosphatasia with intellectual disability syndrom MONDO:0002332 rdfs:label "splenic disorder" MONDO:0022330 rdfs:label "4-hydroxyphenylacetic aciduria" MONDO:0006074 rdfs:label "adenosquamous carcinoma" -UBERON:0015147 rdfs:label "pinna hair" MONDO:0004762 rdfs:label "Taylor syndrome" +UBERON:0015147 rdfs:label "pinna hair" CHEBI:73216 rdfs:label "EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor" NCBITaxon:186802 rdfs:label "Eubacteriales" MONDO:0010688 rdfs:label "hereditary sensory neuropathy X-linked" @@ -32710,10 +32723,10 @@ UBERON:0036657 rdfs:label "wall of fourth ventricle" UBERON:0035403 rdfs:label "hypophysial artery" MONDO:0009450 rdfs:label "ciliary dyskinesia with excessively long cilia" MONDO:0008894 rdfs:label "cataract-hypertrichosis-intellectual disability syndrome" -NCBITaxon:555406 rdfs:label "Archamoebae" -MONDO:0030309 rdfs:label "Leber hereditary optic neuropathy, autosomal recessive" MONDO:0009536 rdfs:label "chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation" +NCBITaxon:555406 rdfs:label "Archamoebae" MONDO:0013449 rdfs:label "Leber congenital amaurosis 7" +MONDO:0030309 rdfs:label "Leber hereditary optic neuropathy, autosomal recessive" http://identifiers.org/hgnc/2464 rdfs:label "VCAN" MONDO:0003955 rdfs:label "juvenile breast papillomatosis" MONDO:0060712 rdfs:label "developmental delay, intellectual disability, obesity, and dysmorphic features" @@ -32722,10 +32735,10 @@ MONDO:0005116 rdfs:label "Whipple disease" MONDO:0044688 rdfs:label "isolated optic neuritis" MONDO:0010924 rdfs:label "D-2-hydroxyglutaric aciduria" MONDO:0014914 rdfs:label "Dias-Logan syndrome" -UBERON:0004806 rdfs:label "vas deferens epithelium" MONDO:0054743 rdfs:label "polycystic liver disease 3 with or without kidney cysts" -MONDO:0021280 rdfs:label "mucoepidermoid carcinoma of parotid gland" +UBERON:0004806 rdfs:label "vas deferens epithelium" MONDO:0015057 rdfs:label "renin-angiotensin-aldosterone system-blocker-induced angioedema" +MONDO:0021280 rdfs:label "mucoepidermoid carcinoma of parotid gland" UBERON:0015060 rdfs:label "sphenoid endochondral element" UBERON:0003984 rdfs:label "uterine tube infundibulum" MONDO:0004378 rdfs:label "pediatric cerebral ependymoblastoma" @@ -32781,8 +32794,8 @@ MONDO:0002788 rdfs:label "papillary craniopharyngioma" CL:1000606 rdfs:label "kidney nerve cell" MONDO:0003734 rdfs:label "adult central nervous system immature teratoma" UBERON:0004388 rdfs:label "epiphysis of fibula" -UBERON:0002188 rdfs:label "respiratory bronchiole" MONDO:0012791 rdfs:label "mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" +UBERON:0002188 rdfs:label "respiratory bronchiole" MONDO:0010210 rdfs:label "xeroderma pigmentosum group A" HP:0004368 rdfs:label "Increased circulating purine concentration" http://identifiers.org/hgnc/23089 rdfs:label "SLC13A5" @@ -32837,11 +32850,11 @@ NCBITaxon:1329799 rdfs:label "Archelosauria" http://identifiers.org/hgnc/3046 rdfs:label "PIGP" MONDO:0012383 rdfs:label "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency" MONDO:0002263 rdfs:label "female reproductive system disorder" -NCBITaxon:34630 rdfs:label "Rhipicephalus " MONDO:0024535 rdfs:label "Singleton-Merten syndrome 1" -MONDO:0020208 rdfs:label "syndromic myopia" +NCBITaxon:34630 rdfs:label "Rhipicephalus " MONDO:0015547 rdfs:label "genetic dementia" http://identifiers.org/hgnc/10069 rdfs:label "RNF6" +MONDO:0020208 rdfs:label "syndromic myopia" http://identifiers.org/hgnc/20134 rdfs:label "GLRX5" MONDO:0012602 rdfs:label "autosomal recessive nonsyndromic hearing loss 24" http://identifiers.org/hgnc/15718 rdfs:label "APCDD1" @@ -32914,8 +32927,8 @@ ENVO:3100011 rdfs:label "concentration of dioxygen in liquid water" MONDO:0019726 rdfs:label "type II mixed cryoglobulinemia" UBERON:0011971 rdfs:label "calcaneofibular ligament" NCBITaxon:34504 rdfs:label "Paragonimus westermani" -MONDO:0001074 rdfs:label "chronic tic disorder" http://identifiers.org/hgnc/16892 rdfs:label "CD96" +MONDO:0001074 rdfs:label "chronic tic disorder" MONDO:0018529 rdfs:label "qualitative or quantitative defects of Torsin-1A-interacting protein 1" NCBITaxon:51291 rdfs:label "Chlamydiales" MONDO:0004060 rdfs:label "peripheral epithelioid sarcoma" @@ -32979,13 +32992,13 @@ MONDO:0004754 rdfs:label "rectal prolapse" http://identifiers.org/hgnc/1390 rdfs:label "CACNA1C" MONDO:0017362 rdfs:label "neuralgic amyotrophy" MONDO:0002710 rdfs:label "infiltrating angiolipoma" -MONDO:0018004 rdfs:label "acute megakaryoblastic leukemia without down syndrome" UBERON:0004427 rdfs:label "proximal epiphysis of first metatarsal bone" +MONDO:0018004 rdfs:label "acute megakaryoblastic leukemia without down syndrome" MONDO:0011793 rdfs:label "celiac disease, susceptibility to, 5" MONDO:0060704 rdfs:label "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" MONDO:0010423 rdfs:label "hypospadias 2, X-linked" -MONDO:0012876 rdfs:label "heparin cofactor 2 deficiency" http://identifiers.org/hgnc/12805 rdfs:label "XDH" +MONDO:0012876 rdfs:label "heparin cofactor 2 deficiency" MONDO:0013822 rdfs:label "acrodysostosis 2 with or without hormone resistance" MONDO:0015066 rdfs:label "neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade" UBERON:4000170 rdfs:label "median fin skeleton" @@ -33024,10 +33037,10 @@ MONDO:0016233 rdfs:label "obsolete rare lymphatic system malformation" MONDO:0000811 rdfs:label "anomalous left coronary artery from the pulmonary artery" MONDO:0014554 rdfs:label "obsolete infantile multisystem neurologic-endocrine-pancreatic disease" NCBITaxon:325675 rdfs:label "unclassified Arteriviridae" +UBERON:0009501 rdfs:label "mesenchyme of fronto-nasal process" MONDO:0032842 rdfs:label "siddiqi syndrome" MONDO:0015432 rdfs:label "ring chromosome 12" GO:1904362 rdfs:label "regulation of calcitonin secretion" -UBERON:0009501 rdfs:label "mesenchyme of fronto-nasal process" CHEBI:35555 rdfs:label "mancude organic heteromonocyclic parent" CL:0011108 rdfs:label "colon epithelial cell" HP:0000846 rdfs:label "Adrenal insufficiency" @@ -33064,9 +33077,9 @@ MONDO:0006998 rdfs:label "tonsil cancer" MONDO:0001543 rdfs:label "lesion of sciatic nerve" MONDO:0003743 rdfs:label "heart malignant hemangiopericytoma" UBERON:0006261 rdfs:label "male genital tubercle" -UBERON:0035820 rdfs:label "peritoneal sac" UBERON:0010171 rdfs:label "strand of hair of face" MONDO:0008816 rdfs:label "Chiari malformation type II" +UBERON:0035820 rdfs:label "peritoneal sac" UBERON:0010257 rdfs:label "6th arch mesenchyme from neural crest" MONDO:0100374 rdfs:label "acute myeloid leukemia, t(16;16)(p13.1;q22)" HP:0001909 rdfs:label "Leukemia" @@ -33097,13 +33110,13 @@ MONDO:0020074 rdfs:label "progressive myoclonus epilepsy" MONDO:0008682 rdfs:label "Denys-Drash syndrome" MONDO:0014007 rdfs:label "Aicardi-Goutieres syndrome 6" MONDO:0005032 rdfs:label "follicular thyroid adenoma" -MONDO:0007485 rdfs:label "dyskeratosis congenita, autosomal dominant 1" UBERON:0014613 rdfs:label "cervical spinal cord gray matter" +MONDO:0007485 rdfs:label "dyskeratosis congenita, autosomal dominant 1" ECTO:0010002 rdfs:label "exposure to environmental process quality" MONDO:0008549 rdfs:label "thoracic dysostosis, isolated" UBERON:0009022 rdfs:label "right uterine horn" -GO:0045823 rdfs:label "positive regulation of heart contraction" MONDO:0001972 rdfs:label "Brucella melitensis brucellosis" +GO:0045823 rdfs:label "positive regulation of heart contraction" MONDO:0007875 rdfs:label "Larsen syndrome" MONDO:0012017 rdfs:label "Parkes Weber syndrome" MONDO:0012071 rdfs:label "congenital generalized lipodystrophy type 1" @@ -33131,10 +33144,10 @@ MONDO:0014404 rdfs:label "Webb-Dattani syndrome" MONDO:0017863 rdfs:label "digitalis poisoning" http://identifiers.org/hgnc/3374 rdfs:label "EPAS1" GO:0006664 rdfs:label "glycolipid metabolic process" +UBERON:8400021 rdfs:label "liver serosa" UBERON:0001489 rdfs:label "manus joint" MONDO:0011466 rdfs:label "distal myopathy, Welander type" http://identifiers.org/hgnc/18817 rdfs:label "HPS6" -UBERON:8400021 rdfs:label "liver serosa" MONDO:0012540 rdfs:label "age related macular degeneration 4" MONDO:0032844 rdfs:label "infantile liver failure syndrome 3" http://identifiers.org/hgnc/19165 rdfs:label "TBC1D4" @@ -33205,16 +33218,16 @@ MONDO:0009264 rdfs:label "gastroschisis" MONDO:0002125 rdfs:label "status epilepticus" MONDO:0020567 rdfs:label "apnea of prematurity" MONDO:0010361 rdfs:label "intellectual disability, X-linked 30" -MONDO:0005696 rdfs:label "central nervous system tuberculosis" MONDO:0024323 rdfs:label "glomangiomyoma" +MONDO:0005696 rdfs:label "central nervous system tuberculosis" MONDO:0008067 rdfs:label "nasopharyngeal carcinoma, susceptibility to, 2" GO:0008152 rdfs:label "metabolic process" GO:1901228 rdfs:label "positive regulation of transcription from RNA polymerase II promoter involved in heart development" -UBERON:0004994 rdfs:label "mucosa of fundus of stomach" MONDO:0005501 rdfs:label "congenital disorder of glycosylation type II" GO:0033008 rdfs:label "positive regulation of mast cell activation involved in immune response" UBERON:0001771 rdfs:label "pupil" http://identifiers.org/hgnc/25608 rdfs:label "VPS53" +UBERON:0004994 rdfs:label "mucosa of fundus of stomach" UBERON:0002413 rdfs:label "cervical vertebra" MONDO:0007701 rdfs:label "progressive familial heart block type II" http://identifiers.org/hgnc/24054 rdfs:label "KNL1" @@ -33228,15 +33241,15 @@ MONDO:0009451 rdfs:label "Nezelof syndrome" MONDO:0003566 rdfs:label "obsolete choroid plexus carcinoma" GO:0042321 rdfs:label "negative regulation of circadian sleep/wake cycle, sleep" MONDO:0021111 rdfs:label "ureter neoplasm" -NCBITaxon:6314 rdfs:label "Trichostrongyloidea" NCBITaxon:555407 rdfs:label "Centramoebida" GO:0002894 rdfs:label "positive regulation of type II hypersensitivity" MONDO:0003956 rdfs:label "Baastrup syndrome" +NCBITaxon:6314 rdfs:label "Trichostrongyloidea" MONDO:0060713 rdfs:label "deafness, congenital heart defects, and posterior embryotoxon" CHEBI:33433 rdfs:label "monoatomic halogen" GO:0009593 rdfs:label "detection of chemical stimulus" -NCBITaxon:11244 rdfs:label "Pneumoviridae" MONDO:0006942 rdfs:label "obsolete reflex epilepsy" +NCBITaxon:11244 rdfs:label "Pneumoviridae" MONDO:0044689 rdfs:label "recurrent idiopathic neuroretinitis" UBERON:0002600 rdfs:label "limbic lobe" MONDO:0015058 rdfs:label "obsolete Waterhouse-Friderichsen syndrome" @@ -33249,16 +33262,16 @@ MONDO:0002554 rdfs:label "sympathetic neurilemmoma" MONDO:0022552 rdfs:label "Bazopoulou Kyrkanidou syndrome" GO:0099003 rdfs:label "vesicle-mediated transport in synapse" MONDO:0015927 rdfs:label "idiopathic eosinophilic pneumonia" -GO:0044273 rdfs:label "sulfur compound catabolic process" MONDO:0021094 rdfs:label "immunodeficiency disease" +GO:0044273 rdfs:label "sulfur compound catabolic process" MONDO:0005930 rdfs:label "obsolete postpoliomyelitis syndrome" UBERON:0008998 rdfs:label "vasculature of brain" UBERON:0001153 rdfs:label "caecum" UBERON:0036658 rdfs:label "wall of central canal of spinal cord" CHEBI:589779 rdfs:label "piperidinium" +NCBITaxon:2499411 rdfs:label "Articulavirales" MONDO:0008895 rdfs:label "hereditary arterial and articular multiple calcification syndrome" HP:0012372 rdfs:label "Abnormal eye morphology" -NCBITaxon:2499411 rdfs:label "Articulavirales" FOODON:03411998 rdfs:label "decapod"@en MONDO:0009537 rdfs:label "lymphoid interstitial pneumonia" UBERON:0012330 rdfs:label "nasal-associated lymphoid tissue" @@ -33317,8 +33330,8 @@ HP:0012374 rdfs:label "obsolete Abnormal globe morphology" HP:0001929 rdfs:label "Reduced factor XI activity" MONDO:0011613 rdfs:label "autosomal recessive early-onset Parkinson disease 6" MONDO:0001270 rdfs:label "stone in bladder diverticulum" -MONDO:0016865 rdfs:label "Kleefstra syndrome due to a point mutation" MONDO:0044971 rdfs:label "obsolete disease of macromolecular complex" +MONDO:0016865 rdfs:label "Kleefstra syndrome due to a point mutation" MONDO:0003958 rdfs:label "childhood central nervous system immature teratoma" UBERON:0002015 rdfs:label "kidney capsule" GO:1905083 rdfs:label "negative regulation of mitochondrial translational elongation" @@ -33333,8 +33346,8 @@ MONDO:0000375 rdfs:label "bronchus carcinoma in situ" MONDO:0006278 rdfs:label "lung papilloma" MONDO:0021764 rdfs:label "acrofacial dysostosis preis type" UBERON:0004389 rdfs:label "epiphysis of metatarsal bone" -MONDO:0010854 rdfs:label "Toriello-Lacassie-Droste syndrome" MONDO:0000204 rdfs:label "obsolete skin creases, congenital symmetric circumferential" +MONDO:0010854 rdfs:label "Toriello-Lacassie-Droste syndrome" MONDO:0006107 rdfs:label "benign thyroid gland neoplasm" MONDO:0100366 rdfs:label "occupational disorder" http://identifiers.org/hgnc/30611 rdfs:label "STT3B" @@ -33363,8 +33376,8 @@ GO:0033343 rdfs:label "positive regulation of collagen binding" http://identifiers.org/hgnc/10939 rdfs:label "SLC1A1" MONDO:0016664 rdfs:label "drug-induced vasculitis" UBERON:0004807 rdfs:label "respiratory system epithelium" -UBERON:0015061 rdfs:label "limb endochondral element" MONDO:0013786 rdfs:label "cone-rod dystrophy 16" +UBERON:0015061 rdfs:label "limb endochondral element" MONDO:0004379 rdfs:label "female breast carcinoma" http://identifiers.org/hgnc/10820 rdfs:label "SH2D1A" MONDO:0016509 rdfs:label "microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome" @@ -33378,12 +33391,12 @@ GO:0046943 rdfs:label "carboxylic acid transmembrane transporter activity" NCBITaxon:730 rdfs:label "[Haemophilus] ducreyi" MONDO:0009477 rdfs:label "Stromme syndrome" UBERON:0011185 rdfs:label "gastrointestinal sphincter" +MONDO:0024883 rdfs:label "metastatic neoplasm" http://identifiers.org/hgnc/19185 rdfs:label "FRAS1" +ENVO:01000845 rdfs:label "crystal"@en MONDO:0012384 rdfs:label "panic disorder 3" MONDO:0011130 rdfs:label "sebaceous gland hyperplasia, familial presenile" -ENVO:01000845 rdfs:label "crystal"@en MONDO:0002264 rdfs:label "obsolete atrophy of prostate" -MONDO:0024883 rdfs:label "metastatic neoplasm" MONDO:0024536 rdfs:label "glucocorticoid deficiency 1" http://identifiers.org/hgnc/3437 rdfs:label "ERCC5" http://identifiers.org/hgnc/6929 rdfs:label "MC1R" @@ -33400,8 +33413,8 @@ HP:0002167 rdfs:label "Neurological speech impairment" MONDO:0005618 rdfs:label "anxiety disorder" GO:0032787 rdfs:label "monocarboxylic acid metabolic process" http://identifiers.org/hgnc/9302 rdfs:label "PPP2R1A" -UBERON:0008192 rdfs:label "tendon of triceps brachii" MONDO:0021367 rdfs:label "leukemia, myeloid, accelerated-phase" +UBERON:0008192 rdfs:label "tendon of triceps brachii" http://identifiers.org/hgnc/2035 rdfs:label "CLDN14" CL:0002535 rdfs:label "epithelial cell of cervix" GO:0051181 rdfs:label "obsolete cofactor transport" @@ -33482,8 +33495,8 @@ MONDO:0005892 rdfs:label "otitis media with effusion" MONDO:0022357 rdfs:label "congenital acardia" MONDO:0020270 rdfs:label "obsolete pigmentation disorder with eye involvement" MONDO:0010034 rdfs:label "anosmia for butyl mercaptan" -MONDO:0012877 rdfs:label "major affective disorder 8" MONDO:0010424 rdfs:label "surfactant metabolism dysfunction, pulmonary, 4" +MONDO:0012877 rdfs:label "major affective disorder 8" GO:0005938 rdfs:label "cell cortex" GO:0051338 rdfs:label "regulation of transferase activity" HP:0003826 rdfs:label "Stillbirth" @@ -33561,20 +33574,20 @@ http://identifiers.org/hgnc/7133 rdfs:label "KMT2D" GO:0055081 rdfs:label "anion homeostasis" MONDO:0021398 rdfs:label "polyp of rectum" MONDO:0001229 rdfs:label "small intestine diverticulitis" -MONDO:0002303 rdfs:label "central retinal vein occlusion" MONDO:0021227 rdfs:label "adrenal gland neoplasm" -MONDO:0003861 rdfs:label "vulvar eccrine adenocarcinoma" -MONDO:0011438 rdfs:label "acne" +MONDO:0002303 rdfs:label "central retinal vein occlusion" ENVO:00000304 rdfs:label "shore" -MONDO:0000142 rdfs:label "obsolete multiple congenital anomalies-hypotonia-seizures syndrome" +MONDO:0011438 rdfs:label "acne" +MONDO:0003861 rdfs:label "vulvar eccrine adenocarcinoma" MONDO:0016538 rdfs:label "obsolete hypotonia-cystinuria syndrome type 1" +MONDO:0000142 rdfs:label "obsolete multiple congenital anomalies-hypotonia-seizures syndrome" MONDO:0006045 rdfs:label "ovarian clear cell adenocarcinoma" MONDO:0013638 rdfs:label "Warburg micro syndrome 3" MONDO:0017612 rdfs:label "junctional epidermolysis bullosa" MONDO:0004429 rdfs:label "skin meningioma" NCBITaxon:815 rdfs:label "Bacteroidaceae" -MONDO:0008934 rdfs:label "cerebellar ataxia-ectodermal dysplasia syndrome" UBERON:0034928 rdfs:label "dorsal surface of penis" +MONDO:0008934 rdfs:label "cerebellar ataxia-ectodermal dysplasia syndrome" UBERON:0010375 rdfs:label "pancreas dorsal primordium" GO:0032811 rdfs:label "negative regulation of epinephrine secretion" MONDO:0012597 rdfs:label "prostate cancer, hereditary, 9" @@ -33582,7 +33595,7 @@ GO:0006897 rdfs:label "endocytosis" ENVO:01001614 rdfs:label "ice-bearing permafrost"@en GO:0002522 rdfs:label "leukocyte migration involved in immune response" NCBITaxon:1485168 rdfs:label "Longamoebia" -MONDO:0018186 rdfs:label "ring chromosome" +MONDO:0018186 rdfs:label "obsolete ring chromosome" MONDO:0030918 rdfs:label "intellectual disability, autosomal dominant 52" MONDO:0016874 rdfs:label "partial deletion of chromosome 9" UBERON:0005136 rdfs:label "metanephric glomerular endothelium" @@ -33590,11 +33603,11 @@ http://identifiers.org/hgnc/8574 rdfs:label "PAFAH1B1" UBERON:0016513 rdfs:label "cavity of left atrium" MONDO:0001544 rdfs:label "tibial nerve palsy" UBERON:0005893 rdfs:label "leg bone" -UBERON:0002198 rdfs:label "neurohypophysis" NCIT:C15492 rdfs:label "Estrogen Receptor Positive" MONDO:0010426 rdfs:label "X-linked endothelial corneal dystrophy" MONDO:0003744 rdfs:label "spindle cell intraocular melanoma" MONDO:0017142 rdfs:label "obsolete hemorrhagic disorder due to a qualitative platelet defect" +UBERON:0002198 rdfs:label "neurohypophysis" FOODON:03460180 rdfs:label "obsolete: food added"@en MONDO:0012879 rdfs:label "schizophrenia 14" MONDO:0005033 rdfs:label "ganglioneuroma" @@ -33622,8 +33635,8 @@ MONDO:0019780 rdfs:label "anotia" GO:0045637 rdfs:label "regulation of myeloid cell differentiation" MONDO:0015184 rdfs:label "obsolete rare disease involving intestinal motility" MONDO:0000532 rdfs:label "lung combined type small cell adenocarcinoma" -MONDO:0021960 rdfs:label "ureteritis" MONDO:0009592 rdfs:label "metaphyseal acroscyphodysplasia" +MONDO:0021960 rdfs:label "ureteritis" MONDO:0010309 rdfs:label "intellectual disability, X-linked 42" MONDO:0018583 rdfs:label "human infection by orthopoxvirus" http://identifiers.org/hgnc/3604 rdfs:label "FBN2" @@ -33650,12 +33663,12 @@ CHR:9606-chr3q1 rdfs:label "3q1 (Human)" http://identifiers.org/hgnc/8940 rdfs:label "PHYH" HP:0100845 rdfs:label "Anaphylactic shock" UBERON:5002389 rdfs:label "manual digit plus metapodial segment" -UBERON:0014614 rdfs:label "cervical spinal cord white matter" UBERON:0007806 rdfs:label "connecting stalk" +UBERON:0014614 rdfs:label "cervical spinal cord white matter" NCBITaxon:1762 rdfs:label "Mycobacteriaceae" ECTO:0010003 rdfs:label "exposure to environmental physical object quality" -GO:0045824 rdfs:label "negative regulation of innate immune response" MONDO:0015067 rdfs:label "neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor" +GO:0045824 rdfs:label "negative regulation of innate immune response" ENVO:01001206 rdfs:label "grassland ecosystem"@en MONDO:0001973 rdfs:label "Brucella abortus brucellosis" MONDO:0012189 rdfs:label "obsolete Amish infantile epilepsy syndrome" @@ -33702,8 +33715,8 @@ MONDO:0016820 rdfs:label "Moyamoya disease" CL:0000825 rdfs:label "pro-NK cell" http://identifiers.org/hgnc/175 rdfs:label "ACVRL1" MONDO:0020483 rdfs:label "acetazolamide-responsive myotonia" -MONDO:0012447 rdfs:label "synpolydactyly type 3" GO:0016311 rdfs:label "dephosphorylation" +MONDO:0012447 rdfs:label "synpolydactyly type 3" MONDO:0014720 rdfs:label "autosomal dominant optic atrophy plus syndrome" CHR:9606-chr10q rdfs:label "10q (Human)" FOODON:03411335 rdfs:label "crab"@en @@ -33746,8 +33759,8 @@ MONDO:0002126 rdfs:label "obsolete childhood absence epilepsy" MONDO:0006253 rdfs:label "obsolete infiltrating bladder urothelial carcinoma sarcomatoid variant" MONDO:0005697 rdfs:label "cerebral toxoplasmosis" MONDO:0003263 rdfs:label "childhood cerebellar neoplasm" -UBERON:0004995 rdfs:label "mucosa of body of stomach" UBERON:0001772 rdfs:label "corneal epithelium" +UBERON:0004995 rdfs:label "mucosa of body of stomach" MONDO:0008683 rdfs:label "Wilms tumor 3" UBERON:0002414 rdfs:label "lumbar vertebra" MONDO:0054716 rdfs:label "microcephaly 19, primary, autosomal recessive" @@ -33763,10 +33776,10 @@ MONDO:0004295 rdfs:label "asbestos-related lung carcinoma" MONDO:0021112 rdfs:label "scrotum cancer" MONDO:0003450 rdfs:label "eccrine papillary adenoma" HP:0030962 rdfs:label "Abnormal morphology of the great vessels" -UBERON:0006930 rdfs:label "glandular cuboidal epithelium" MONDO:0010026 rdfs:label "SHORT syndrome" MONDO:0016790 rdfs:label "tricarboxylic acid cycle disorder" HP:0001787 rdfs:label "Abnormal delivery" +UBERON:0006930 rdfs:label "glandular cuboidal epithelium" GO:1904226 rdfs:label "regulation of glycogen synthase activity, transferring glucose-1-phosphate" UBERON:0009758 rdfs:label "abdominal ganglion" http://identifiers.org/hgnc/24525 rdfs:label "MMACHC" @@ -33786,7 +33799,7 @@ GO:1901717 rdfs:label "positive regulation of gamma-aminobutyric acid catabolic MONDO:0015861 rdfs:label "obsolete rare uterine adnexal tumor" GO:0071331 rdfs:label "cellular response to hexose stimulus" MONDO:0010362 rdfs:label "glycogen storage disease IXd" -MONDO:0008068 rdfs:label "navicular bone, accessory" +MONDO:0008068 rdfs:label "obsolete navicular bone, accessory" MONDO:0002555 rdfs:label "trigeminal schwannoma" MONDO:0005502 rdfs:label "dengue disease" MONDO:0022553 rdfs:label "BD syndrome" @@ -33800,8 +33813,8 @@ CL:0000123 rdfs:label "neuron associated cell (sensu Vertebrata)" GO:0009205 rdfs:label "purine ribonucleoside triphosphate metabolic process" GO:0042322 rdfs:label "negative regulation of circadian sleep/wake cycle, REM sleep" UBERON:0002824 rdfs:label "vestibular ganglion" -NCBITaxon:6315 rdfs:label "Trichostrongylidae" MONDO:0003957 rdfs:label "adult pineoblastoma" +NCBITaxon:6315 rdfs:label "Trichostrongylidae" MONDO:0060714 rdfs:label "tumoral calcinosis, hyperphosphatemic, familial, 2" MONDO:0007056 rdfs:label "acroosteolysis" MONDO:0005118 rdfs:label "human granulocytic ehrlichiosis" @@ -33817,8 +33830,8 @@ MONDO:0011906 rdfs:label "congenital bile acid synthesis defect 1" MONDO:0019689 rdfs:label "perlecan-related bone disorder" MONDO:0013123 rdfs:label "atrial septal defect 6" MONDO:0014681 rdfs:label "thyroid cancer, nonmedullary, 4" -MONDO:0016039 rdfs:label "infantile digital fibromatosis" http://identifiers.org/hgnc/6560 rdfs:label "LFNG" +MONDO:0016039 rdfs:label "infantile digital fibromatosis" MONDO:0007371 rdfs:label "cornea guttata with anterior polar cataracts" UBERON:0005989 rdfs:label "atrioventricular septum" MONDO:0004985 rdfs:label "bipolar disorder" @@ -33830,8 +33843,8 @@ UBERON:0003404 rdfs:label "lobar bronchus of right lung" CHEBI:76815 rdfs:label "EC 2.7.7.* (nucleotidyltransferase) inhibitor" http://identifiers.org/hgnc/6006 rdfs:label "IL21R" MONDO:0010770 rdfs:label "ubiquitin-activating enzyme, Y-linked" -GO:0050727 rdfs:label "regulation of inflammatory response" MONDO:0012970 rdfs:label "microvascular complications of diabetes, susceptibility to, 6" +GO:0050727 rdfs:label "regulation of inflammatory response" MONDO:0015106 rdfs:label "obsolete rare urogenital disease" MONDO:0032570 rdfs:label "Joubert syndrome 35" ENVO:00000109 rdfs:label "woodland area" @@ -33918,8 +33931,8 @@ MONDO:0011509 rdfs:label "low density lipoprotein cholesterol, mild elevation of MONDO:0017669 rdfs:label "obsolete disease with diffuse palmoplantar keratoderma as a major feature" GO:0051966 rdfs:label "regulation of synaptic transmission, glutamatergic" GO:0099004 rdfs:label "calmodulin dependent kinase signaling pathway" -UBERON:0039168 rdfs:label "colic lymph node" http://identifiers.org/hgnc/14153 rdfs:label "CCDC78" +UBERON:0039168 rdfs:label "colic lymph node" NCBITaxon:721805 rdfs:label "Amygdaleae" MONDO:0015224 rdfs:label "obsolete rare intoxication" MONDO:0021095 rdfs:label "parkinsonian disorder" @@ -33937,8 +33950,8 @@ MONDO:0002265 rdfs:label "stereotypic movement disorder" CHEBI:62031 rdfs:label "polar amino acid zwitterion" NCIT:C35682 rdfs:label "Positive Laboratory Test Result" MONDO:0024537 rdfs:label "Brown-Vialetto-van Laere syndrome 1" -UBERON:0002237 rdfs:label "true rib" NCBITaxon:34632 rdfs:label "Rhipicephalus sanguineus" +UBERON:0002237 rdfs:label "true rib" MONDO:0008896 rdfs:label "campomelia, Cumming type" MONDO:0009538 rdfs:label "lymphoid system deterioration, progressive" PATO:0000608 rdfs:label "closed" @@ -33970,9 +33983,9 @@ MONDO:0024884 rdfs:label "metastatic carcinoma in the bone" http://identifiers.org/hgnc/3438 rdfs:label "ERCC6" MONDO:0003452 rdfs:label "cochlear disorder" MONDO:0006969 rdfs:label "sialadenitis" +MONDO:0007915 rdfs:label "systemic lupus erythematosus" NCBITaxon:6209 rdfs:label "Echinococcus" MONDO:0032908 rdfs:label "CEBALID syndrome" -MONDO:0007915 rdfs:label "systemic lupus erythematosus" MONDO:0005641 rdfs:label "aleutian mink disease" CL:0002328 rdfs:label "bronchial epithelial cell" NCBITaxon:451864 rdfs:label "Dikarya" @@ -34071,13 +34084,13 @@ MONDO:0014369 rdfs:label "postaxial polydactyly-anterior pituitary anomalies-fac MONDO:0010393 rdfs:label "intellectual disability, X-linked 93" MONDO:0009990 rdfs:label "Revesz syndrome" http://identifiers.org/hgnc/10457 rdfs:label "RS1" -MONDO:0044354 rdfs:label "Rosai-Dorfman disease" MONDO:0014252 rdfs:label "familial hypobetalipoproteinemia 1" MONDO:0013482 rdfs:label "Meckel syndrome, type 8" GO:0019627 rdfs:label "urea metabolic process" MONDO:0004977 rdfs:label "angioimmunoblastic T-cell lymphoma" MONDO:0003660 rdfs:label "adult lymphoma" MONDO:0002890 rdfs:label "obsolete gastrointestinal adenoma" +MONDO:0044354 rdfs:label "Rosai-Dorfman disease" http://identifiers.org/hgnc/3603 rdfs:label "FBN1" MONDO:0011866 rdfs:label "pontocerebellar hypoplasia type 1A" MONDO:0012940 rdfs:label "inflammatory bowel disease 24" @@ -34109,8 +34122,8 @@ GO:0060548 rdfs:label "negative regulation of cell death" MONDO:0025483 rdfs:label "mammary neoplasms, animal" MONDO:0008935 rdfs:label "cerebellar ataxia-hypogonadism syndrome" UBERON:0001560 rdfs:label "neck of organ" -GO:0032812 rdfs:label "positive regulation of epinephrine secretion" MONDO:0012598 rdfs:label "fibromatosis, gingival, 4" +GO:0032812 rdfs:label "positive regulation of epinephrine secretion" UBERON:0006072 rdfs:label "cervical region of vertebral column" MONDO:0024286 rdfs:label "benign blood vessel neoplasm" MONDO:0001722 rdfs:label "central pterygium" @@ -34141,9 +34154,9 @@ MONDO:0011439 rdfs:label "spinocerebellar ataxia type 12" MONDO:0000143 rdfs:label "obsolete multiple mitochondrial dysfunctions syndrome" MONDO:0016539 rdfs:label "atypical hypotonia-cystinuria syndrome" MONDO:0006046 rdfs:label "ovarian serous cystadenocarcinoma" +NCBITaxon:816 rdfs:label "Bacteroides" MONDO:0017613 rdfs:label "intellectual disability-hypotonia-skin hyperpigmentation syndrome" MONDO:0013639 rdfs:label "narcolepsy 6, susceptibility to" -NCBITaxon:816 rdfs:label "Bacteroides" GO:0045638 rdfs:label "negative regulation of myeloid cell differentiation" GO:0006898 rdfs:label "receptor-mediated endocytosis" HP:0000613 rdfs:label "Photophobia" @@ -34204,8 +34217,8 @@ MONDO:0014925 rdfs:label "epilepsy, familial focal, with variable foci 3" UBERON:0007807 rdfs:label "connecting stalk vasculature" NCBITaxon:1763 rdfs:label "Mycobacterium" UBERON:0004817 rdfs:label "lacrimal gland epithelium" -MONDO:0021291 rdfs:label "carcinoma in situ of fundus of stomach" MONDO:0015068 rdfs:label "neuroendocrine tumor of rectum, well differentiated, low or intermediate grade" +MONDO:0021291 rdfs:label "carcinoma in situ of fundus of stomach" UBERON:8400023 rdfs:label "liver subserosa" MONDO:0016014 rdfs:label "fetal minoxidil syndrome" MONDO:0032846 rdfs:label "osteogenesis imperfecta, type 20" @@ -34252,8 +34265,8 @@ FOODON:03420310 rdfs:label "obsolete: stamen"@en MONDO:0002304 rdfs:label "protein S deficiency" NCBITaxon:9913 rdfs:label "Bos taurus" MONDO:0003862 rdfs:label "melanotic psammomatous malignant peripheral nerve sheath tumor" -MONDO:0010981 rdfs:label "absent tibia-polydactyly-arachnoid cyst syndrome" UBERON:0010376 rdfs:label "pancreas ventral primordium" +MONDO:0010981 rdfs:label "absent tibia-polydactyly-arachnoid cyst syndrome" GO:1902017 rdfs:label "regulation of cilium assembly" UBERON:0034929 rdfs:label "external soft tissue zone" MONDO:0044248 rdfs:label "obsolete thiourea tasting" @@ -34302,18 +34315,18 @@ http://identifiers.org/hgnc/23287 rdfs:label "ETHE1" HP:0004566 rdfs:label "Pear-shaped vertebrae" MONDO:0002127 rdfs:label "urethral stricture" MONDO:0044981 rdfs:label "pseudoallergy" -MONDO:0042717 rdfs:label "Saul-Wilkes-Stevenson syndrome" MONDO:0011009 rdfs:label "muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers" GO:1902622 rdfs:label "regulation of neutrophil migration" -MONDO:0024325 rdfs:label "cutaneous glomangiomyoma" +MONDO:0042717 rdfs:label "Saul-Wilkes-Stevenson syndrome" MONDO:0005698 rdfs:label "cervical incompetence" +MONDO:0024325 rdfs:label "cutaneous glomangiomyoma" MONDO:0008069 rdfs:label "necrotizing encephalomyelopathy, subacute, of Leigh, adult" UBERON:0010199 rdfs:label "bona-fide anatomical boundary" -MONDO:0020076 rdfs:label "myeloproliferative neoplasm" UBERON:0035826 rdfs:label "left adrenal gland medulla" +MONDO:0020076 rdfs:label "myeloproliferative neoplasm" http://identifiers.org/hgnc/2867 rdfs:label "DHODH" -MONDO:0005503 rdfs:label "developmental disorder of mental health" MONDO:0015350 rdfs:label "17q11.2 microduplication syndrome" +MONDO:0005503 rdfs:label "developmental disorder of mental health" UBERON:0001773 rdfs:label "sclera" UBERON:0004996 rdfs:label "mucosa of cardia of stomach" MONDO:0008684 rdfs:label "Wolf-Hirschhorn syndrome" @@ -34384,9 +34397,9 @@ MONDO:0010584 rdfs:label "dyskeratosis congenita, X-linked" GO:0032984 rdfs:label "protein-containing complex disassembly" http://identifiers.org/hgnc/341 rdfs:label "AGXT" MONDO:0011530 rdfs:label "mesomelic dysplasia, Savarirayan type" -NCBITaxon:76804 rdfs:label "Nidovirales" MONDO:0013983 rdfs:label "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive" CHEBI:33847 rdfs:label "monocyclic arene" +NCBITaxon:76804 rdfs:label "Nidovirales" http://identifiers.org/hgnc/7448 rdfs:label "MTM1" MONDO:0011907 rdfs:label "acrocapitofemoral dysplasia" MONDO:0020974 rdfs:label "laryngeal granuloma" @@ -34398,8 +34411,8 @@ GO:2000252 rdfs:label "negative regulation of feeding behavior" MONDO:0043707 rdfs:label "mediastinal disorder" MONDO:0003043 rdfs:label "obsolete extraskeletal mesenchymal chondrosarcoma" UBERON:0005192 rdfs:label "deferent duct artery" -MONDO:0019416 rdfs:label "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome" UBERON:0022278 rdfs:label "nucleus of pudendal nerve" +MONDO:0019416 rdfs:label "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome" UBERON:0003405 rdfs:label "lobar bronchus of left lung" UBERON:0000179 rdfs:label "haemolymphatic fluid" MONDO:0030332 rdfs:label "ciliary dyskinesia, primary, 46" @@ -34503,8 +34516,8 @@ MONDO:0024885 rdfs:label "malignant ovarian serous tumor" MONDO:0024538 rdfs:label "basal ganglia calcification, idiopathic, 1" MONDO:0003453 rdfs:label "conjunctival intraepithelial neoplasm" MONDO:0008897 rdfs:label "obsolete tumoral calcinosis, hyperphosphatemic, familial, 1" -MONDO:0007916 rdfs:label "primary intestinal lymphangiectasia" GO:2000113 rdfs:label "negative regulation of cellular macromolecule biosynthetic process" +MONDO:0007916 rdfs:label "primary intestinal lymphangiectasia" MONDO:0009539 rdfs:label "lymphoblastic leukemia, acute, with lymphomatous features" MONDO:0032909 rdfs:label "mitochondrial complex 3 deficiency, nuclear type 10" MONDO:0000950 rdfs:label "asthenopia" @@ -34515,8 +34528,8 @@ UBERON:0004940 rdfs:label "submucosa of common hepatic duct" MONDO:0014565 rdfs:label "cataract 43" MONDO:0015888 rdfs:label "obsolete other rare diabetes mellitus" GO:0090304 rdfs:label "nucleic acid metabolic process" -HP:0001541 rdfs:label "Ascites" MONDO:0019018 rdfs:label "Tako-tsubo cardiomyopathy" +HP:0001541 rdfs:label "Ascites" MONDO:0021283 rdfs:label "malignant teratoma of mediastinum" HP:0010885 rdfs:label "Avascular necrosis" MONDO:0023483 rdfs:label "infectious myositis" @@ -34540,8 +34553,8 @@ MONDO:0013553 rdfs:label "immunodeficiency-centromeric instability-facial anomal FOODON:03411328 rdfs:label "goat"@en MONDO:0011617 rdfs:label "arthropathy, erosive" MONDO:0012804 rdfs:label "hypertrophic cardiomyopathy 12" -MONDO:0015630 rdfs:label "von Willebrand disease type 2M" MONDO:0100064 rdfs:label "tyrosine hydroxylase deficiency" +MONDO:0015630 rdfs:label "von Willebrand disease type 2M" GO:0006705 rdfs:label "mineralocorticoid biosynthetic process" http://identifiers.org/hgnc/23734 rdfs:label "PTF1A" MONDO:0020680 rdfs:label "acute bronchiolitis" @@ -34602,13 +34615,13 @@ MONDO:0020272 rdfs:label "obsolete connective tissue disease with eye involvemen MONDO:0010036 rdfs:label "congenital secretory sodium diarrhea 3" UBERON:0001005 rdfs:label "respiratory airway" MONDO:0003303 rdfs:label "neurofibroma of gallbladder" -NBO:0000034 rdfs:label "sexual activity" MONDO:0016783 rdfs:label "maternal 14q32.2 hypermethylation syndrome" +MONDO:0017425 rdfs:label "preaxial polydactyly of fingers" MONDO:0005230 rdfs:label "cellulitis" HP:0031064 rdfs:label "Impaired continence" -MONDO:0017425 rdfs:label "preaxial polydactyly of fingers" +NBO:0000034 rdfs:label "sexual activity" http://identifiers.org/hgnc/21158 rdfs:label "RNF135" -MONDO:0018983 rdfs:label "tolosa-Hunt syndrome" +MONDO:0018983 rdfs:label "Tolosa-Hunt syndrome" MONDO:0008747 rdfs:label "oculocutaneous albinism type 3" MONDO:0009821 rdfs:label "lethal osteosclerotic bone dysplasia" MONDO:0018124 rdfs:label "Oncogenic osteomalacia" @@ -34703,7 +34716,7 @@ MONDO:0015832 rdfs:label "true unicornuate uterus" MONDO:0008819 rdfs:label "arteriosclerosis, severe juvenile" CHR:9606-chr2q31 rdfs:label "2q31 (Human)" MONDO:0002526 rdfs:label "dermal unilateral segmental cavernous angioma" -MONDO:0026768 rdfs:label "warfarin sensitivity, X-linked" +MONDO:0026768 rdfs:label "obsolete warfarin sensitivity, X-linked" MONDO:0025514 rdfs:label "livedoid vasculopathy" MONDO:0004453 rdfs:label "testicular yolk sac tumor, myxomatous pattern" UBERON:0011154 rdfs:label "gular region" @@ -34740,7 +34753,7 @@ MONDO:0007214 rdfs:label "brachydactyly-preaxial hallux varus syndrome" UBERON:0003460 rdfs:label "arm bone" MONDO:0005902 rdfs:label "peanut allergic reaction" GO:0080145 rdfs:label "cysteine homeostasis" -MONDO:0014253 rdfs:label "autoimmune lymphoproliferative syndrome type 3" +MONDO:0014253 rdfs:label "obsolete autoimmune lymphoproliferative syndrome type 3" UBERON:0001164 rdfs:label "greater curvature of stomach" NCBITaxon:694002 rdfs:label "Betacoronavirus" CHEBI:35942 rdfs:label "neurotransmitter agent" @@ -34758,9 +34771,9 @@ MONDO:0700122 rdfs:label "PBRM1-related BAFopathy" MONDO:0013320 rdfs:label "chromosome 16p12.2-p11.2 deletion syndrome" UBERON:0003343 rdfs:label "mucosa of oral region" MONDO:0014926 rdfs:label "Bardet-Biedl syndrome 22" +UBERON:8400024 rdfs:label "subcapsular region of liver" MONDO:0021292 rdfs:label "carcinoma in situ of gastric body" UBERON:0035825 rdfs:label "left adrenal gland cortex" -UBERON:8400024 rdfs:label "subcapsular region of liver" MONDO:0016822 rdfs:label "myalgia-eosinophilia syndrome associated with tryptophan" CL:0000827 rdfs:label "pro-T cell" http://identifiers.org/hgnc/177 rdfs:label "ACY1" @@ -34889,10 +34902,10 @@ MONDO:0008160 rdfs:label "osteosclerosis with ichthyosis and fractures" MONDO:0024547 rdfs:label "pancreatic agenesis 1" MONDO:0020650 rdfs:label "germ cell tumor of the vulva" MONDO:0011531 rdfs:label "Noonan syndrome 2" -MONDO:0012614 rdfs:label "intellectual disability, autosomal recessive 6" NCBITaxon:103828 rdfs:label "Thelaziidae" -MONDO:0007925 rdfs:label "chromosome 5q deletion syndrome" +MONDO:0012614 rdfs:label "intellectual disability, autosomal recessive 6" MONDO:0054582 rdfs:label "Townes-Brocks syndrome 2" +MONDO:0007925 rdfs:label "chromosome 5q deletion syndrome" http://identifiers.org/hgnc/21493 rdfs:label "DNAAF4" GO:1905208 rdfs:label "negative regulation of cardiocyte differentiation" GO:0072363 rdfs:label "obsolete regulation of glycolytic process by positive regulation of transcription from RNA polymerase II promoter" @@ -35025,8 +35038,8 @@ MONDO:0012803 rdfs:label "diarrhea-vomiting due to trehalase deficiency" MONDO:0007410 rdfs:label "isolated cryptophthalmia" UBERON:0008001 rdfs:label "irregular bone" MONDO:0003161 rdfs:label "obsolete benign ependymoma" -CHEBI:32762 rdfs:label "L-tyrosinium" MONDO:0022912 rdfs:label "cutis verticis gyrata mental deficiency" +CHEBI:32762 rdfs:label "L-tyrosinium" GO:0140657 rdfs:label "ATP-dependent activity" MONDO:0014918 rdfs:label "tall stature-intellectual disability-renal anomalies syndrome" http://identifiers.org/hgnc/29843 rdfs:label "NSMF" @@ -35036,11 +35049,11 @@ MONDO:0003139 rdfs:label "mesangial proliferative glomerulonephritis" UBERON:0015064 rdfs:label "autopod cartilage" MONDO:0042603 rdfs:label "Sanderson-Fraser syndrome" MONDO:0023137 rdfs:label "feigenbaum Bergeron syndrome" -UBERON:0010709 rdfs:label "pelvic complex" CL:0000788 rdfs:label "naive B cell" +UBERON:0010709 rdfs:label "pelvic complex" +MONDO:0005569 rdfs:label "obsolete cartilage disease" NCBITaxon:121226 rdfs:label "Pediculus humanus capitis" NCBITaxon:119088 rdfs:label "Enoplea" -MONDO:0005569 rdfs:label "obsolete cartilage disease" MONDO:0011908 rdfs:label "juvenile myelomonocytic leukemia" GO:0007249 rdfs:label "I-kappaB kinase/NF-kappaB signaling" MONDO:0006515 rdfs:label "acute pancreatitis" @@ -35064,8 +35077,8 @@ MONDO:0007917 rdfs:label "lymphedema-cerebral arteriovenous anomaly syndrome" MONDO:0032572 rdfs:label "cardiac, facial, and digital anomalies with developmental delay" MONDO:0006830 rdfs:label "leukoplakia of penis" MONDO:0012113 rdfs:label "epilepsy, idiopathic generalized, susceptibility to, 3" -MONDO:0014566 rdfs:label "Charcot-Marie-Tooth disease axonal type 2U" MONDO:0020526 rdfs:label "acute megakaryoblastic leukemia in down syndrome" +MONDO:0014566 rdfs:label "Charcot-Marie-Tooth disease axonal type 2U" GO:0090305 rdfs:label "nucleic acid phosphodiester bond hydrolysis" MONDO:0001086 rdfs:label "partial optic atrophy" UBERON:0008430 rdfs:label "lumbar vertebral foramen" @@ -35114,8 +35127,8 @@ GO:0010948 rdfs:label "negative regulation of cell cycle process" MONDO:0000543 rdfs:label "ovarian melanoma" MONDO:0006446 rdfs:label "testicular embryonal carcinoma" GO:0022411 rdfs:label "cellular component disassembly" -http://identifiers.org/hgnc/24488 rdfs:label "POC1A" MONDO:0016141 rdfs:label "qualitative or quantitative defects of alpha-sarcoglycan" +http://identifiers.org/hgnc/24488 rdfs:label "POC1A" MONDO:0010624 rdfs:label "obsolete IFAP/BRESHECK syndrome" MONDO:0005231 rdfs:label "hepatitis C virus infection" CHEBI:63248 rdfs:label "oxidising agent" @@ -35143,8 +35156,8 @@ MONDO:0019973 rdfs:label "persistent placoid maculopathy" MONDO:0008420 rdfs:label "seborrheic keratosis" MONDO:0044811 rdfs:label "idiopathic torsion dystonia" MONDO:0012083 rdfs:label "autosomal dominant nonsyndromic hearing loss 28" -CHR:9606-chr16p13.3 rdfs:label "16p13.3 (Human)" MONDO:0001829 rdfs:label "lumbosacral plexus lesion" +CHR:9606-chr16p13.3 rdfs:label "16p13.3 (Human)" MONDO:0002076 rdfs:label "pneumothorax" http://identifiers.org/hgnc/10825 rdfs:label "SH3BP2" CL:0011027 rdfs:label "skeletal muscle fibroblast" @@ -35222,8 +35235,8 @@ CL:0002538 rdfs:label "intrahepatic cholangiocyte" CHEBI:36078 rdfs:label "cholanoid" UBERON:0003565 rdfs:label "hindbrain dura mater" MONDO:0032659 rdfs:label "mucocutaneous ulceration, chronic" -MONDO:0014136 rdfs:label "pulmonary hypertension, primary, 4" NCBITaxon:43987 rdfs:label "Geotrichum" +MONDO:0014136 rdfs:label "pulmonary hypertension, primary, 4" MONDO:0056813 rdfs:label "hormone-resistant breast carcinoma" ENVO:00002017 rdfs:label "metamorphic rock" http://identifiers.org/hgnc/1718 rdfs:label "CDC14A" @@ -35233,8 +35246,8 @@ HP:0001627 rdfs:label "Abnormal heart morphology" MONDO:0060456 rdfs:label "cerebral sclerosis, diffuse, scholz type" MONDO:0011198 rdfs:label "spondyloepimetaphyseal dysplasia, Missouri type" MONDO:0001078 rdfs:label "tropical sprue" -UBERON:0002471 rdfs:label "zeugopod" http://identifiers.org/hgnc/6601 rdfs:label "LIG4" +UBERON:0002471 rdfs:label "zeugopod" MONDO:0019613 rdfs:label "non-functioning pituitary adenoma" MONDO:0032774 rdfs:label "cerebellar, ocular, craniofacial, and genital syndrome" UBERON:0005256 rdfs:label "trunk mesenchyme" @@ -35314,16 +35327,16 @@ UBERON:0004089 rdfs:label "midface" UBERON:0003461 rdfs:label "shoulder bone" UBERON:0005035 rdfs:label "mucosa of left main bronchus" MONDO:0006698 rdfs:label "cholecystolithiasis" -ECTO:0000135 rdfs:label "exposure to organic compound" MONDO:0009992 rdfs:label "myoglobinuria, acute recurrent, autosomal recessive" +ECTO:0000135 rdfs:label "exposure to organic compound" UBERON:0035639 rdfs:label "ocular adnexa" MONDO:0014254 rdfs:label "otofaciocervical syndrome 2" NCBITaxon:6264 rdfs:label "Toxocara" MONDO:0012942 rdfs:label "lung cancer susceptibility 3" CHR:9606-chr11p15.4 rdfs:label "11p15.4 (Human)" MONDO:0011070 rdfs:label "van Maldergem syndrome 1" -MONDO:0018605 rdfs:label "disorders of pentose/polyol metabolism" MONDO:0010781 rdfs:label "ataxia and polyneuropathy, adult-onset" +MONDO:0018605 rdfs:label "disorders of pentose/polyol metabolism" CL:0000945 rdfs:label "lymphocyte of B lineage" NCBITaxon:2497570 rdfs:label "Haploviricotina" UBERON:0005728 rdfs:label "extraembryonic mesoderm" @@ -35348,11 +35361,11 @@ UBERON:0003946 rdfs:label "placenta labyrinth" CL:0000030 rdfs:label "glioblast" UBERON:0018256 rdfs:label "lacrimal vein" http://identifiers.org/hgnc/2197 rdfs:label "COL1A1" -UBERON:0011814 rdfs:label "non-neurogenic ectodermal placode" MONDO:0002306 rdfs:label "angular blepharoconjunctivitis" -MONDO:0060621 rdfs:label "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" +UBERON:0011814 rdfs:label "non-neurogenic ectodermal placode" MONDO:0003864 rdfs:label "chronic lymphocytic leukemia/small lymphocytic lymphoma" MONDO:0003517 rdfs:label "mature teratoma" +MONDO:0060621 rdfs:label "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" MONDO:0011363 rdfs:label "diabetes mellitus, noninsulin-dependent, 3" MONDO:0025485 rdfs:label "feline acquired immunodeficiency syndrome" MONDO:0008937 rdfs:label "cerebellar ataxia, benign, with thermoanalgesia" @@ -35399,8 +35412,8 @@ MONDO:0015352 rdfs:label "distal hereditary motor neuropathy type 2" MONDO:0017552 rdfs:label "humero-ulnar synostosis, unilateral" MONDO:0003109 rdfs:label "foramen magnum meningioma" NCBITaxon:29178 rdfs:label "Foraminifera" -UBERON:0001282 rdfs:label "intralobular bile duct" MONDO:0005036 rdfs:label "gastric adenocarcinoma" +UBERON:0001282 rdfs:label "intralobular bile duct" NCBITaxon:526525 rdfs:label "Erysipelotrichales" MONDO:0001976 rdfs:label "chorea gravidarum" http://identifiers.org/hgnc/18810 rdfs:label "CATSPER2" @@ -35529,11 +35542,11 @@ http://identifiers.org/hgnc/4439 rdfs:label "GP1BA" UBERON:0035828 rdfs:label "right adrenal gland medulla" UBERON:0001775 rdfs:label "ciliary body" UBERON:0004998 rdfs:label "mucosa of pylorus" +UBERON:0003975 rdfs:label "internal female genitalia" NCBITaxon:10374 rdfs:label "Gammaherpesvirinae" GO:0050793 rdfs:label "regulation of developmental process" MONDO:0007705 rdfs:label "Heinz body anemia" HP:0032309 rdfs:label "Abnormal granulocyte count" -UBERON:0003975 rdfs:label "internal female genitalia" UBERON:0010060 rdfs:label "pharyngeal opening of pharyngotympanic tube" MONDO:0006642 rdfs:label "alcohol withdrawal delirium" MONDO:0018063 rdfs:label "nodular non-suppurative panniculitis" @@ -35543,8 +35556,8 @@ MONDO:0017375 rdfs:label "congenital enterovirus infection" MONDO:0008256 rdfs:label "platelet membrane fluidity" http://identifiers.org/hgnc/7060 rdfs:label "MGP" MONDO:0001117 rdfs:label "methemoglobinemia" -GO:0042325 rdfs:label "regulation of phosphorylation" UBERON:0009715 rdfs:label "stomodeal lumen" +GO:0042325 rdfs:label "regulation of phosphorylation" MONDO:0018321 rdfs:label "atypical juvenile parkinsonism" http://identifiers.org/hgnc/21528 rdfs:label "DIABLO" MONDO:0021115 rdfs:label "luminal B breast carcinoma" @@ -35573,8 +35586,8 @@ MONDO:0007374 rdfs:label "Schnyder corneal dystrophy" GO:0051171 rdfs:label "regulation of nitrogen compound metabolic process" CHEBI:64416 rdfs:label "EC 1.3.1.43 (arogenate dehydrogenase) inhibitor" GO:0016409 rdfs:label "palmitoyltransferase activity" -MONDO:0004988 rdfs:label "breast adenocarcinoma" MONDO:0006351 rdfs:label "parachordoma" +MONDO:0004988 rdfs:label "breast adenocarcinoma" MONDO:0021098 rdfs:label "papillomatosis" MONDO:0010623 rdfs:label "ichthyosis and male hypogonadism" NCBITaxon:58023 rdfs:label "Tracheophyta" @@ -35595,8 +35608,8 @@ MONDO:0025420 rdfs:label "gastroenteritis, transmissible, of swine" MONDO:0008899 rdfs:label "camptodactyly syndrome, Guadalajara type 2" HP:0030850 rdfs:label "Abnormal pulse pressure" MONDO:0011168 rdfs:label "type 1 diabetes mellitus 10" -MONDO:0003162 rdfs:label "obsolete pilomyxoid astrocytoma" GO:0032940 rdfs:label "secretion by cell" +MONDO:0003162 rdfs:label "obsolete pilomyxoid astrocytoma" MONDO:0012114 rdfs:label "Ehlers-Danlos syndrome, Beasley-Cohen type" MONDO:0014567 rdfs:label "glutamate pyruvate transaminase 2 deficiency" MONDO:0001850 rdfs:label "female breast lower-outer quadrant cancer" @@ -35617,8 +35630,8 @@ MONDO:0000702 rdfs:label "microscopic colitis" MONDO:0008946 rdfs:label "cerebral angiopathy, dysphoric" GO:0098798 rdfs:label "mitochondrial protein-containing complex" MONDO:0011355 rdfs:label "cone-rod dystrophy 7" -UBERON:0005194 rdfs:label "thoracic vein" http://identifiers.org/hgnc/4218 rdfs:label "GDF3" +UBERON:0005194 rdfs:label "thoracic vein" NCBITaxon:5809 rdfs:label "Sarcocystidae" MONDO:0013555 rdfs:label "Hermansky-Pudlak syndrome 3" MONDO:0100066 rdfs:label "TH-deficient progressive infantile encephalopathy" @@ -35690,16 +35703,16 @@ MONDO:0009823 rdfs:label "primary hyperoxaluria type 1" http://identifiers.org/hgnc/1869 rdfs:label "CETP" GO:0106121 rdfs:label "positive regulation of cobalamin metabolic process" MONDO:0002723 rdfs:label "obsolete cutaneous mastocytosis" -UBERON:0004872 rdfs:label "splanchnic layer of lateral plate mesoderm" http://identifiers.org/hgnc/15512 rdfs:label "VANGL1" +UBERON:0004872 rdfs:label "splanchnic layer of lateral plate mesoderm" MONDO:0004012 rdfs:label "adult botryoid rhabdomyosarcoma" http://identifiers.org/hgnc/8952 rdfs:label "SERPINB8" MONDO:0007411 rdfs:label "cutis laxa, autosomal dominant 1" MONDO:0004337 rdfs:label "perianal skin Paget disease" MONDO:0015383 rdfs:label "cervicofacial fibrochondroma" CL:2000068 rdfs:label "pericardium fibroblast" -MONDO:0007090 rdfs:label "amastia, bilateral, with ureteral triplication and dysmorphism" MONDO:0019974 rdfs:label "obsolete postencephalitic parkinsonism" +MONDO:0007090 rdfs:label "amastia, bilateral, with ureteral triplication and dysmorphism" GO:0002430 rdfs:label "complement receptor mediated signaling pathway" NCBITaxon:118969 rdfs:label "Legionellales" GO:0019900 rdfs:label "kinase binding" @@ -35760,21 +35773,21 @@ MONDO:0018159 rdfs:label "atypical hemolytic-uremic syndrome with DGKE deficienc MONDO:0044627 rdfs:label "acute macular neuroretinopathy" http://identifiers.org/hgnc/12010 rdfs:label "TPM1" UBERON:0002472 rdfs:label "stylopod" +UBERON:0002125 rdfs:label "thymus lobule" MONDO:0012806 rdfs:label "ectodermal dysplasia and immunodeficiency 2" MONDO:0001881 rdfs:label "toxic shock syndrome" -UBERON:0002125 rdfs:label "thymus lobule" MONDO:0007784 rdfs:label "selective pituitary resistance to thyroid hormone" MONDO:0015632 rdfs:label "FASTKD2-related infantile mitochondrial encephalomyopathy" MONDO:0009340 rdfs:label "non-spherocytic hemolytic anemia due to hexokinase deficiency" GO:0006707 rdfs:label "cholesterol catabolic process" MONDO:0018417 rdfs:label "autosomal recessive spastic paraplegia type 60" -UBERON:0016525 rdfs:label "frontal lobe" MONDO:0044977 rdfs:label "obsolete disease of receptor activity" -MONDO:0020682 rdfs:label "Ehlers-Danlos syndrome, spondylodysplastic type, 1" +UBERON:0016525 rdfs:label "frontal lobe" MONDO:0004910 rdfs:label "mitral valve prolapse" +MONDO:0020682 rdfs:label "Ehlers-Danlos syndrome, spondylodysplastic type, 1" NCBITaxon:451867 rdfs:label "Dothideomycetidae" -MONDO:0010814 rdfs:label "chondrodysplasia-pseudohermaphroditism syndrome" HP:0004327 rdfs:label "Abnormal vitreous humor morphology" +MONDO:0010814 rdfs:label "chondrodysplasia-pseudohermaphroditism syndrome" MONDO:0001948 rdfs:label "obsolete Riedel's fibrosing thyroiditis" MONDO:0021301 rdfs:label "adenoma of nipple" UBERON:0010574 rdfs:label "manual digit 5 metacarpus cartilage element" @@ -35853,8 +35866,8 @@ MONDO:0043120 rdfs:label "male pseudohermaphroditism due to defective lh molecul http://identifiers.org/hgnc/11408 rdfs:label "STK4" MONDO:0010100 rdfs:label "Tay-Sachs disease" MONDO:0014255 rdfs:label "complement factor b deficiency" -MONDO:0012943 rdfs:label "retinitis pigmentosa 46" http://identifiers.org/hgnc/26013 rdfs:label "DNAAF5" +MONDO:0012943 rdfs:label "retinitis pigmentosa 46" GO:0097722 rdfs:label "sperm motility" MONDO:0002938 rdfs:label "metatypical basal cell carcinoma" HP:0004297 rdfs:label "Abnormality of the biliary system" @@ -35946,8 +35959,8 @@ UBERON:0016517 rdfs:label "lumen of jejunum" MONDO:0000349 rdfs:label "obsolete Charcot-Marie-Tooth disease type 1" NCIT:C15496 rdfs:label "Progesterone Receptor Positive" MONDO:0015658 rdfs:label "obsolete cerebral diseases of vascular origin with epilepsy" -ENVO:04000004 rdfs:label "concentration of carbon dioxide in air"@en UBERON:0005897 rdfs:label "manus bone" +ENVO:04000004 rdfs:label "concentration of carbon dioxide in air"@en MONDO:0005037 rdfs:label "gastric intestinal type adenocarcinoma" MONDO:0015834 rdfs:label "didelphys uterus" MONDO:0100379 rdfs:label "acute myeloid leukemia, t(1;11)(q21;q23)" @@ -35964,8 +35977,8 @@ MONDO:0000536 rdfs:label "pharyngeal squamous cell carcinoma" MONDO:0020721 rdfs:label "X-linked sideroblastic anemia 1" GO:0070094 rdfs:label "positive regulation of glucagon secretion" MONDO:0009596 rdfs:label "metaphyseal chondrodysplasia, Pena type" -MONDO:0008226 rdfs:label "periodontitis, aggressive 1" MONDO:0022734 rdfs:label "chorioretinopathy dominant form microcephaly" +MONDO:0008226 rdfs:label "periodontitis, aggressive 1" MONDO:0012945 rdfs:label "amyotrophic lateral sclerosis type 11" MONDO:0006478 rdfs:label "undifferentiated pancreatic carcinoma" NCBITaxon:499556 rdfs:label "Chapare mammarenavirus" @@ -36071,8 +36084,8 @@ MONDO:0700126 rdfs:label "trisomy 21" MONDO:0044619 rdfs:label "propylthiouracil embryofetopathy" MONDO:0022736 rdfs:label "occupational lung disease" MONDO:0032784 rdfs:label "neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements" -NCBITaxon:2732541 rdfs:label "Reovirales" http://identifiers.org/hgnc/8618 rdfs:label "PAX4" +NCBITaxon:2732541 rdfs:label "Reovirales" MONDO:0013695 rdfs:label "colorectal cancer, hereditary nonpolyposis, type 6" MONDO:0023043 rdfs:label "ectodermal dysplasia alopecia preaxial polydactyly" MONDO:0044984 rdfs:label "nasolacrimal duct disorder" @@ -36290,8 +36303,8 @@ NCBITaxon:6274 rdfs:label "Spirurina" MONDO:0004653 rdfs:label "atypical chronic myeloid leukemia, BCR-ABL1 negative" MONDO:0008830 rdfs:label "aspartylglucosaminuria" http://identifiers.org/hgnc/2909 rdfs:label "DLL3" -MONDO:0003456 rdfs:label "obsolete bile duct mucinous cystic neoplasm" MONDO:0009341 rdfs:label "Mowat-Wilson syndrome" +MONDO:0003456 rdfs:label "obsolete bile duct mucinous cystic neoplasm" http://identifiers.org/hgnc/336 rdfs:label "AGTR1" MONDO:0002433 rdfs:label "malignant cranial nerve neoplasm" MONDO:0000272 rdfs:label "obsolete autoimmune polyendocrine syndrome type 2" @@ -36317,16 +36330,16 @@ http://identifiers.org/hgnc/15964 rdfs:label "DAZ2" UBERON:0035322 rdfs:label "right common iliac artery" http://identifiers.org/hgnc/11557 rdfs:label "TAL2" http://identifiers.org/hgnc/7146 rdfs:label "TRPM1" +NCBITaxon:9925 rdfs:label "Capra hircus" +MONDO:0056815 rdfs:label "liver adenosquamous carcinoma" MONDO:0001674 rdfs:label "diverticulitis of colon" GO:0042578 rdfs:label "phosphoric ester hydrolase activity" -NCBITaxon:9925 rdfs:label "Capra hircus" MONDO:0008201 rdfs:label "Perry syndrome" MONDO:0014138 rdfs:label "nemaline myopathy 8" -MONDO:0056815 rdfs:label "liver adenosquamous carcinoma" MONDO:0003874 rdfs:label "ovarian serous surface papillary adenocarcinoma" +MONDO:0002620 rdfs:label "localized osteosarcoma" MONDO:0009412 rdfs:label "scurvy" http://identifiers.org/hgnc/1343 rdfs:label "TRAF3IP2" -MONDO:0002620 rdfs:label "localized osteosarcoma" GO:0099240 rdfs:label "intrinsic component of synaptic membrane" MONDO:0013075 rdfs:label "herpes simplex encephalitis, susceptibility to, 2" UBERON:0010388 rdfs:label "proximal segment of rib" @@ -36411,13 +36424,13 @@ MONDO:0017040 rdfs:label "exposure-related interstitial lung disease" UBERON:0003463 rdfs:label "trunk bone" MONDO:0016623 rdfs:label "obsolete rare deficiency anemia" MONDO:0015600 rdfs:label "X-linked intellectual disability, Cilliers type" -MONDO:0003664 rdfs:label "hemolytic anemia" MONDO:0000441 rdfs:label "obsolete X-linked myopathy with excessive autophagy" GO:0032501 rdfs:label "multicellular organismal process" +MONDO:0003664 rdfs:label "hemolytic anemia" MONDO:0014256 rdfs:label "retinitis pigmentosa 67" UBERON:0001095 rdfs:label "caudal vertebra" -MONDO:0012944 rdfs:label "chromosome 17P13.3, telomeric, duplication syndrome" NCIT:C15329 rdfs:label "Surgical Procedure" +MONDO:0012944 rdfs:label "chromosome 17P13.3, telomeric, duplication syndrome" MONDO:0011072 rdfs:label "diabetes mellitus, noninsulin-dependent, 2" MONDO:0010783 rdfs:label "Alzheimer disease, susceptibility to, mitochondrial" MONDO:0006036 rdfs:label "granulosa cell tumor" @@ -36485,8 +36498,8 @@ MONDO:0019615 rdfs:label "pituitary dermoid and epidermoid cysts" UBERON:0016392 rdfs:label "mastoid lymph node" UBERON:0005258 rdfs:label "upper arm mesenchyme" MONDO:0022529 rdfs:label "BK-virus nephropathy" -ENVO:09000017 rdfs:label "concentration of nitrogen atom in soil" MONDO:0002022 rdfs:label "disorder of orbital region" +ENVO:09000017 rdfs:label "concentration of nitrogen atom in soil" MONDO:0003580 rdfs:label "obsolete embryonal testis carcinoma" MONDO:0012532 rdfs:label "hereditary hemorrhagic telangiectasia type 4" UBERON:0001785 rdfs:label "cranial nerve" @@ -36496,9 +36509,9 @@ UBERON:0002731 rdfs:label "vestibulocochlear nerve root" MONDO:0008227 rdfs:label "peripheral dysostosis" MONDO:0010492 rdfs:label "pituitary adenoma, growth hormone-secreting, 2" UBERON:0006338 rdfs:label "lateral ventricle choroid plexus stroma" -CL:0002601 rdfs:label "uterine smooth muscle cell" CHEBI:33579 rdfs:label "main group molecular entity" GO:0006414 rdfs:label "translational elongation" +CL:0002601 rdfs:label "uterine smooth muscle cell" MONDO:0001127 rdfs:label "tibialis tendinitis" CHEBI:33408 rdfs:label "pnictogen oxoacid" MONDO:0021125 rdfs:label "disease characteristic" @@ -36513,9 +36526,9 @@ MONDO:0015659 rdfs:label "obsolete infectious disease with epilepsy" MONDO:0019110 rdfs:label "obsolete rare central nervous system or retinal vascular disease" MONDO:0005038 rdfs:label "obsolete genetic disorder" http://identifiers.org/hgnc/17866 rdfs:label "HAVCR1" -MONDO:0018260 rdfs:label "scalp syndrome" http://identifiers.org/hgnc/2207 rdfs:label "COL4A5" GO:0007135 rdfs:label "meiosis II" +MONDO:0018260 rdfs:label "scalp syndrome" MONDO:0006151 rdfs:label "colon dysplasia" UBERON:0000087 rdfs:label "inner cell mass" GO:0100024 rdfs:label "obsolete regulation of carbohydrate metabolic process by transcription from RNA polymerase II promoter" @@ -36573,8 +36586,8 @@ MONDO:0007928 rdfs:label "obsolete Fechtner syndrome" MONDO:0020160 rdfs:label "secondary entropion" MONDO:0010271 rdfs:label "X-linked myotubular myopathy-abnormal genitalia syndrome" CHR:9606-chr14q11-q22 rdfs:label "14q11-q22 (Human)" -MONDO:0012124 rdfs:label "sudden infant death-dysgenesis of the testes syndrome" MONDO:0054801 rdfs:label "erythrocytosis, familial, 6" +MONDO:0012124 rdfs:label "sudden infant death-dysgenesis of the testes syndrome" IAO:0000030 rdfs:label "information content entity"@en MONDO:0020537 rdfs:label "occupational allergic alveolitis" MONDO:0002117 rdfs:label "pancreas sarcoma" @@ -36584,16 +36597,16 @@ MONDO:0014881 rdfs:label "transketolase deficiency" MONDO:0013713 rdfs:label "dengue virus, susceptibility to" MONDO:0017071 rdfs:label "thoracolumbosacral spina bifida cystica" GO:0002644 rdfs:label "negative regulation of tolerance induction" -MONDO:0030962 rdfs:label "nephrotic syndrome, type 23" http://identifiers.org/hgnc/11566 rdfs:label "TAPBP" +MONDO:0030962 rdfs:label "nephrotic syndrome, type 23" MONDO:0015438 rdfs:label "ring chromosome 22" MONDO:0016996 rdfs:label "NK-cell enteropathy" MONDO:0016649 rdfs:label "Warburg micro syndrome" MONDO:0016825 rdfs:label "mitochondrial myopathy-lactic acidosis-deafness syndrome" -MONDO:0004716 rdfs:label "stomach carcinoma in situ" MONDO:0020488 rdfs:label "atypical progressive supranuclear palsy syndrome" +MONDO:0004716 rdfs:label "stomach carcinoma in situ" GO:2000819 rdfs:label "regulation of nucleotide-excision repair" -MONDO:0007141 rdfs:label "antiviral state repressor, regulator of" +MONDO:0007141 rdfs:label "obsolete antiviral state repressor, regulator of" PATO:0001396 rdfs:label "cellular quality" CHR:9606-chr15q24 rdfs:label "15q24 (Human)" MONDO:0003866 rdfs:label "liver extraskeletal osteosarcoma" @@ -36618,8 +36631,8 @@ MONDO:0013936 rdfs:label "peroxisome biogenesis disorder 6A (Zellweger)" NCIT:C3367 rdfs:label "Finding" http://identifiers.org/hgnc/6408 rdfs:label "MAFB" http://identifiers.org/hgnc/4933 rdfs:label "HLA-C" -SO:0001483 rdfs:label "SNV" http://identifiers.org/hgnc/5017 rdfs:label "HMX1" +SO:0001483 rdfs:label "SNV" MONDO:0043544 rdfs:label "nosocomial infection" MONDO:0019891 rdfs:label "monosomy 22" MONDO:0015919 rdfs:label "obsolete syndromic neurometabolic disease with non-X-linked intellectual disability" @@ -36698,10 +36711,10 @@ GO:0002830 rdfs:label "positive regulation of type 2 immune response" MONDO:0010132 rdfs:label "familial thyroid dyshormonogenesis" MONDO:0016294 rdfs:label "Hirschsprung disease-type D brachydactyly syndrome" HP:0031653 rdfs:label "Abnormal heart valve physiology" -NCBITaxon:5693 rdfs:label "Trypanosoma cruzi" http://identifiers.org/hgnc/7569 rdfs:label "MYH11" -NCBITaxon:4107 rdfs:label "Solanum" +NCBITaxon:5693 rdfs:label "Trypanosoma cruzi" GO:0007369 rdfs:label "gastrulation" +NCBITaxon:4107 rdfs:label "Solanum" MONDO:0014982 rdfs:label "myopia 25, autosomal dominant" MONDO:0004718 rdfs:label "xeroderma of eyelid" MONDO:0019670 rdfs:label "ulnar hemimelia" @@ -36821,10 +36834,10 @@ MONDO:0018779 rdfs:label "hypercontractile muscle stiffness syndrome" MONDO:0000767 rdfs:label "obsolete nut midline carcinoma" NCBITaxon:1502 rdfs:label "Clostridium perfringens" UBERON:0003472 rdfs:label "cerebellar artery" -UBERON:0002304 rdfs:label "layer of dentate gyrus" ENVO:01000304 rdfs:label "high pressure environment" MONDO:0008573 rdfs:label "tibial torsion, bilateral medial" MONDO:0001713 rdfs:label "inherited aplastic anemia" +UBERON:0002304 rdfs:label "layer of dentate gyrus" HP:0100033 rdfs:label "Tics" PATO:0002096 rdfs:label "neoplastic, non-malignant" MONDO:0005455 rdfs:label "obsolete cholangiocarcinoma" @@ -36974,8 +36987,8 @@ UBERON:0005456 rdfs:label "jugular foramen" MONDO:0004654 rdfs:label "obsolete pyomyositis" http://identifiers.org/hgnc/2206 rdfs:label "COL4A4" MONDO:0011543 rdfs:label "obsolete BRCA3" -MONDO:0005600 rdfs:label "obsolete ovarian adenocarcinoma" MONDO:0001536 rdfs:label "vaginal leiomyoma" +MONDO:0005600 rdfs:label "obsolete ovarian adenocarcinoma" MONDO:0007439 rdfs:label "deoxyribose-5-phosphate aldolase deficiency" UBERON:0006254 rdfs:label "ischial cartilage element" MONDO:0043343 rdfs:label "Chilaiditi syndrome" @@ -37025,23 +37038,23 @@ UBERON:0005259 rdfs:label "lower leg mesenchyme" MONDO:0002023 rdfs:label "obsolete cystic echinococcosis" MONDO:0003581 rdfs:label "ovarian embryonal carcinoma" GO:0043255 rdfs:label "regulation of carbohydrate biosynthetic process" -MONDO:0004912 rdfs:label "obsolete muscular dystrophy" UBERON:0009015 rdfs:label "upper back skin" -UBERON:0006077 rdfs:label "subdivision of vertebral column" +MONDO:0004912 rdfs:label "obsolete muscular dystrophy" MONDO:0032616 rdfs:label "mitochondrial complex 1 deficiency, nuclear type 10" MONDO:0011951 rdfs:label "amyotrophic lateral sclerosis type 6" FOODON:00002501 rdfs:label "multi-component food product"@en +UBERON:0006077 rdfs:label "subdivision of vertebral column" NCBITaxon:41687 rdfs:label "Scedosporium" http://identifiers.org/hgnc/9944 rdfs:label "RDX" PO:0025606 rdfs:label "native plant cell" UBERON:0001514 rdfs:label "descending aorta" UBERON:0004737 rdfs:label "metanephric collecting duct" -MONDO:0044816 rdfs:label "familial idiopathic torsion dystonia" MONDO:0010493 rdfs:label "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis" +MONDO:0044816 rdfs:label "familial idiopathic torsion dystonia" MONDO:0024455 rdfs:label "autosomal dominant Robinow syndrome 1" -MONDO:0023201 rdfs:label "Fryns Smeets Thiry syndrome" GO:0019200 rdfs:label "carbohydrate kinase activity" GO:0006415 rdfs:label "translational termination" +MONDO:0023201 rdfs:label "Fryns Smeets Thiry syndrome" UBERON:0004913 rdfs:label "hepatopancreatic ampulla" UBERON:0003568 rdfs:label "neck connective tissue" MONDO:0029143 rdfs:label "intellectual developmental disorder with hypertelorism and distinctive facies" @@ -37123,8 +37136,8 @@ MONDO:0008636 rdfs:label "double uterus-hemivagina-renal agenesis syndrome" MONDO:0100461 rdfs:label "gastrointestinal defects and immunodeficiency syndrome" ENVO:02000091 rdfs:label "coal" GO:0099547 rdfs:label "regulation of translation at synapse, modulating synaptic transmission" -NCBITaxon:186538 rdfs:label "Zaire ebolavirus" ENVO:01001683 rdfs:label "gaseous surface layer"@en +NCBITaxon:186538 rdfs:label "Zaire ebolavirus" MONDO:0016490 rdfs:label "hemoglobin C-beta-thalassemia syndrome" http://identifiers.org/hgnc/6207 rdfs:label "JUP" MONDO:0016826 rdfs:label "methylmalonic aciduria and homocystinuria" @@ -37178,8 +37191,8 @@ MONDO:0010986 rdfs:label "autosomal recessive nonsyndromic hearing loss 9" MONDO:0020725 rdfs:label "anemia due to chronic disorder" http://identifiers.org/hgnc/14074 rdfs:label "FMN2" UBERON:0002180 rdfs:label "ventral funiculus of spinal cord" -MONDO:0700128 rdfs:label "translocation Down syndrome" HP:0001450 rdfs:label "Y-linked inheritance" +MONDO:0700128 rdfs:label "translocation Down syndrome" UBERON:0004380 rdfs:label "proximal epiphysis" HP:0004360 rdfs:label "Abnormality of acid-base homeostasis" NCBITaxon:69034 rdfs:label "Rotaliidae" @@ -37207,9 +37220,9 @@ HP:0006517 rdfs:label "Intraalveolar phospholipid accumulation" NCBITaxon:39054 rdfs:label "Enterovirus A71" GO:1903510 rdfs:label "mucopolysaccharide metabolic process" HP:0011356 rdfs:label "Regional abnormality of skin" +UBERON:0001450 rdfs:label "calcaneus" MONDO:0012901 rdfs:label "inherited prekallikrein deficiency" http://identifiers.org/hgnc/14295 rdfs:label "SHANK2" -UBERON:0001450 rdfs:label "calcaneus" http://identifiers.org/hgnc/5228 rdfs:label "DNAJB2" MONDO:0011075 rdfs:label "retinitis pigmentosa 18" UBERON:0006936 rdfs:label "thymus subcapsular epithelium" @@ -37227,8 +37240,8 @@ MONDO:0019618 rdfs:label "Sheehan syndrome" MONDO:0043083 rdfs:label "coronal synostosis, syndactyly and jejunal atresia" GO:2001252 rdfs:label "positive regulation of chromosome organization" MONDO:0011262 rdfs:label "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye" -MONDO:0002396 rdfs:label "nephrogenic adenofibroma" MONDO:0008281 rdfs:label "polyposis, intestinal, scattered and discrete" +MONDO:0002396 rdfs:label "nephrogenic adenofibroma" MONDO:0030965 rdfs:label "obsolete olmsted syndrome 2" HP:0000777 rdfs:label "Abnormality of the thymus" MONDO:0005772 rdfs:label "geotrichosis" @@ -37257,8 +37270,8 @@ MONDO:0011535 rdfs:label "split hand-foot malformation 4" MONDO:0024919 rdfs:label "dog disease" MONDO:0019484 rdfs:label "hypothalamic hamartomas with gelastic seizures" CHR:9606-chr2p2 rdfs:label "2p2 (Human)" -UBERON:0007329 rdfs:label "pancreatic duct" GO:0072367 rdfs:label "obsolete regulation of lipid transport by regulation of transcription from RNA polymerase II promoter" +UBERON:0007329 rdfs:label "pancreatic duct" MONDO:0018287 rdfs:label "obsolete congenital disorder of glycosylation with epilepsy as a major feature" CL:0002596 rdfs:label "smooth muscle cell of the carotid artery" MONDO:0007377 rdfs:label "granular corneal dystrophy type I" @@ -37271,10 +37284,10 @@ MONDO:0015760 rdfs:label "T-cell non-Hodgkin lymphoma" GO:0015696 rdfs:label "ammonium transport" HP:0001944 rdfs:label "Dehydration" UBERON:0005652 rdfs:label "pedal digit 5 epithelium" -MONDO:0004850 rdfs:label "obsolete yellow fever" MONDO:0044317 rdfs:label "premature ovarian failure 13" -http://identifiers.org/hgnc/2482 rdfs:label "CSTB" +MONDO:0004850 rdfs:label "obsolete yellow fever" MONDO:0018545 rdfs:label "obsolete primary immunodeficiency with predisposition to severe viral infection" +http://identifiers.org/hgnc/2482 rdfs:label "CSTB" MONDO:0014109 rdfs:label "NGLY1-deficiency" MONDO:0010133 rdfs:label "thyroid dyshormonogenesis 2A" MONDO:0009730 rdfs:label "obsolete nephrosialidosis" @@ -37300,13 +37313,13 @@ MONDO:0009351 rdfs:label "homocarnosinosis" MONDO:0008971 rdfs:label "chondrodysplasia calcificans Metaphysealis" UBERON:3000982 rdfs:label "tail external integument structure" CHEBI:59871 rdfs:label "D-alpha-amino acid zwitterion" -MONDO:0044988 rdfs:label "hip region disorder" +MONDO:0044988 rdfs:label "obsolete hip region disorder" MONDO:0010825 rdfs:label "atrioventricular defect-blepharophimosis-radial and anal defect syndrome" HP:0004338 rdfs:label "Abnormal circulating aromatic amino acid concentration" MONDO:0033537 rdfs:label "combined oxidative phosphorylation deficiency 47" MONDO:0021181 rdfs:label "inherited blood coagulation disorder" -MONDO:0004583 rdfs:label "transient retinal arterial occlusion" PO:0009012 rdfs:label "plant structure development stage" +MONDO:0004583 rdfs:label "transient retinal arterial occlusion" MONDO:0019892 rdfs:label "distal monosomy 7p" UBERON:0001300 rdfs:label "scrotum" MONDO:0003386 rdfs:label "bladder clear cell adenocarcinoma" @@ -37431,8 +37444,8 @@ MONDO:0017931 rdfs:label "hereditary inclusion body myopathy type 4" MONDO:0008949 rdfs:label "cerebral malformation, seizures, hypertrichosis, and overlapping fingers" MONDO:0005822 rdfs:label "latent syphilis" GO:0015149 rdfs:label "hexose transmembrane transporter activity" -GO:0006732 rdfs:label "obsolete coenzyme metabolic process" MONDO:0020224 rdfs:label "obsolete rare cataract" +GO:0006732 rdfs:label "obsolete coenzyme metabolic process" MONDO:0006905 rdfs:label "pigmented spindle cell nevus" MONDO:0013558 rdfs:label "Hermansky-Pudlak syndrome 6" UBERON:0016550 rdfs:label "spinal cord column" @@ -37490,13 +37503,13 @@ UBERON:0035545 rdfs:label "deep lymphatic vessel" MONDO:0018734 rdfs:label "verrucous hemangioma" http://identifiers.org/hgnc/28984 rdfs:label "WASHC5" MONDO:0016460 rdfs:label "polyvalvular heart disease syndrome" +UBERON:0004736 rdfs:label "metanephric glomerulus" MONDO:0045069 rdfs:label "minor salivary gland carcinoma" ECTO:9001809 rdfs:label "exposure to polar solvent" UBERON:0001513 rdfs:label "skin of pes" MONDO:0007093 rdfs:label "hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism" MONDO:0019977 rdfs:label "parkinsonism with dementia of Guadeloupe" GO:0002433 rdfs:label "immune response-regulating cell surface receptor signaling pathway involved in phagocytosis" -UBERON:0004736 rdfs:label "metanephric glomerulus" MONDO:0008424 rdfs:label "sella turcica, bridged" MONDO:0009982 rdfs:label "retinitis pigmentosa inversa with deafness" MONDO:0012087 rdfs:label "primary ciliary dyskinesia 4" @@ -37543,8 +37556,8 @@ MONDO:0004655 rdfs:label "obsolete acute megakaryoblastic leukemia" MONDO:0023015 rdfs:label "duodenal atresia tetralogy of fallot" MONDO:0100390 rdfs:label "acute myeloid leukemia, der12p" http://identifiers.org/hgnc/10701 rdfs:label "SEC23A" -MONDO:0005601 rdfs:label "ovarian mucinous adenocarcinoma" MONDO:0001537 rdfs:label "tuberculous epididymitis" +MONDO:0005601 rdfs:label "ovarian mucinous adenocarcinoma" UBERON:0002128 rdfs:label "superior olivary complex" UBERON:0006255 rdfs:label "ischial pre-cartilage condensation" MONDO:0013946 rdfs:label "hypogonadotropic hypogonadism 15 with or without anosmia" @@ -37686,8 +37699,8 @@ MONDO:0018873 rdfs:label "anterior cutaneous nerve entrapment syndrome" MONDO:0008637 rdfs:label "bifid uvula" MONDO:0006550 rdfs:label "fibroepithelial polyp of urethra" MONDO:0100195 rdfs:label "X-linked intellectual disability with hypopituitarism" +MONDO:0016998 rdfs:label "obsolete complex chromosomal rearrangement" MONDO:0000959 rdfs:label "malignant hypertensive renal disease" -MONDO:0016998 rdfs:label "complex chromosomal rearrangement" http://identifiers.org/hgnc/4076 rdfs:label "GABRA2" MONDO:0014305 rdfs:label "hereditary spastic paraplegia 63" MONDO:0001905 rdfs:label "bicipital tenosynovitis" @@ -37810,9 +37823,9 @@ http://identifiers.org/hgnc/4057 rdfs:label "G6PD" MONDO:0008340 rdfs:label "congenital ptosis" MONDO:0700001 rdfs:label "shrinking lung syndrome" MONDO:0003387 rdfs:label "urethra clear cell adenocarcinoma" +UBERON:0010314 rdfs:label "structure with developmental contribution from neural crest" MONDO:0010941 rdfs:label "nocturnal enuresis, 2" MONDO:0002631 rdfs:label "conventional osteosarcoma" -UBERON:0010314 rdfs:label "structure with developmental contribution from neural crest" MONDO:0007143 rdfs:label "aortic arch anomaly-facial dysmorphism-intellectual disability syndrome" http://identifiers.org/hgnc/1530 rdfs:label "MICU1" UBERON:0000104 rdfs:label "life cycle" @@ -37877,8 +37890,8 @@ UBERON:0010135 rdfs:label "sensory circumventricular organ" MONDO:0044872 rdfs:label "dysautonomia" GO:1903282 rdfs:label "regulation of glutathione peroxidase activity" MONDO:0019485 rdfs:label "idiopathic hemiconvulsion-hemiplegia syndrome" -GO:0008242 rdfs:label "omega peptidase activity" UBERON:0003474 rdfs:label "meningeal artery" +GO:0008242 rdfs:label "omega peptidase activity" GO:0031503 rdfs:label "protein-containing complex localization" MONDO:0008575 rdfs:label "nicotine dependence" MONDO:0016367 rdfs:label "dermatomyositis" @@ -37954,11 +37967,11 @@ MONDO:0000001 rdfs:label "disease or disorder" MONDO:0014163 rdfs:label "left ventricular noncompaction 10" MONDO:0003224 rdfs:label "obsolete spindle cell hemangioma" MONDO:0024613 rdfs:label "bipolar depression" -UBERON:0005269 rdfs:label "renal cortex vein" MONDO:0012504 rdfs:label "camptodactyly-tall stature-scoliosis-hearing loss syndrome" +UBERON:0005269 rdfs:label "renal cortex vein" UBERON:0004015 rdfs:label "embryonic-extraembryonic boundary" -MONDO:0030910 rdfs:label "intellectual disability, autosomal dominant 45" MONDO:0004467 rdfs:label "mature gastric teratoma" +MONDO:0030910 rdfs:label "intellectual disability, autosomal dominant 45" MONDO:0017099 rdfs:label "obsolete facioscapulohumeral dystrophy" MONDO:0022792 rdfs:label "coccygodynia" http://identifiers.org/hgnc/30304 rdfs:label "RGS9BP" @@ -37969,14 +37982,14 @@ CL:0002350 rdfs:label "endocardial cell" UBERON:0002190 rdfs:label "subcutaneous adipose tissue" MONDO:0008542 rdfs:label "tetralogy of fallot" CL:0000412 rdfs:label "polyploid cell" -MONDO:0700066 rdfs:label "myopathy caused by variation in FKRP" http://identifiers.org/hgnc/2579 rdfs:label "CYC1" +MONDO:0700066 rdfs:label "myopathy caused by variation in FKRP" UBERON:0016551 rdfs:label "subdivision of spinal cord ventral column" CHEBI:23116 rdfs:label "chlorine atom" UBERON:0006653 rdfs:label "glans clitoris" GO:0099106 rdfs:label "ion channel regulator activity" -MONDO:0023601 rdfs:label "non-classic congenital adrenal hyperplasia" MONDO:0001442 rdfs:label "dysthymic disorder" +MONDO:0023601 rdfs:label "non-classic congenital adrenal hyperplasia" MONDO:0007345 rdfs:label "aorta coarctation" UBERON:4300226 rdfs:label "forelimb bud mesenchyme" MONDO:0013945 rdfs:label "peroxisome biogenesis disorder 9B" @@ -37998,8 +38011,8 @@ MONDO:0003709 rdfs:label "agoraphobia" CL:1000443 rdfs:label "ciliary muscle cell" HP:0007707 rdfs:label "Congenital aphakia" MONDO:0008425 rdfs:label "omphalocele syndrome, Shprintzen-Goldberg type" -MONDO:0009983 rdfs:label "retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome" MONDO:0002844 rdfs:label "lymphocytic gastritis" +MONDO:0009983 rdfs:label "retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome" MONDO:0012088 rdfs:label "primary ciliary dyskinesia 5" MONDO:0010690 rdfs:label "congenital stationary night blindness 1A" GO:0009251 rdfs:label "glucan catabolic process" @@ -38018,8 +38031,8 @@ MONDO:0019346 rdfs:label "sialidosis type 1" MONDO:0009827 rdfs:label "pachyonychia congenita, autosomal recessive" PO:0030108 rdfs:label "berry fruit" NCBITaxon:33354 rdfs:label "Cimicomorpha" -CHR:9606-chr21 rdfs:label "chromosome 21 (Human)" MONDO:0019522 rdfs:label "recessive dystrophic epidermolysis bullosa-generalized other" +CHR:9606-chr21 rdfs:label "chromosome 21 (Human)" MONDO:0012010 rdfs:label "coronary heart disease, susceptibility to, 4" http://identifiers.org/hgnc/15516 rdfs:label "XYLT1" MONDO:0014853 rdfs:label "autosomal dominant nonsyndromic hearing loss 70" @@ -38051,10 +38064,10 @@ http://identifiers.org/hgnc/6998 rdfs:label "MEFV" MONDO:0005457 rdfs:label "obsolete acute stress reaction" UBERON:0035956 rdfs:label "epididymal lumen" MONDO:0019815 rdfs:label "accessory tricuspid valve tissue" -MONDO:0020227 rdfs:label "obsolete systemic disease with cataract" http://identifiers.org/hgnc/10440 rdfs:label "RPS7" http://identifiers.org/hgnc/18153 rdfs:label "TNFRSF13B" MONDO:0015566 rdfs:label "2q24 microdeletion syndrome" +MONDO:0020227 rdfs:label "obsolete systemic disease with cataract" MONDO:0006908 rdfs:label "pituitary apoplexy" MONDO:0004656 rdfs:label "rubella" MONDO:0018618 rdfs:label "obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect" @@ -38101,11 +38114,11 @@ MONDO:0008145 rdfs:label "Ollier disease" UBERON:0003687 rdfs:label "foramen magnum" NCBITaxon:27973 rdfs:label "Encephalitozoon hellem" MONDO:0033968 rdfs:label "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome" +MONDO:0015824 rdfs:label "oculomaxillofacial dysostosis" +MONDO:0005331 rdfs:label "obsolete acrocephalosyndactylia" http://identifiers.org/hgnc/16644 rdfs:label "IFITM5" MONDO:0018210 rdfs:label "Alexander disease type II" -MONDO:0015824 rdfs:label "oculomaxillofacial dysostosis" MONDO:0013947 rdfs:label "young adult-onset distal hereditary motor neuropathy" -MONDO:0005331 rdfs:label "obsolete acrocephalosyndactylia" http://identifiers.org/hgnc/6137 rdfs:label "ITGA2" GO:0031642 rdfs:label "negative regulation of myelination" MONDO:0004914 rdfs:label "celiac artery stenosis from compression by median arcuate ligament of diaphragm" @@ -38167,8 +38180,8 @@ MONDO:0016439 rdfs:label "elastoderma" MONDO:0017997 rdfs:label "telecanthus-hypertelorism-strabismus-pes cavus syndrome" GO:0032055 rdfs:label "negative regulation of translation in response to stress" NCBITaxon:11050 rdfs:label "Flaviviridae" -MONDO:0004506 rdfs:label "microscopic breast papilloma" GO:0033001 rdfs:label "Fc-gamma receptor III complex" +MONDO:0004506 rdfs:label "microscopic breast papilloma" MONDO:0012674 rdfs:label "age related macular degeneration 10" MONDO:0013620 rdfs:label "congenital myasthenic syndrome 16" http://identifiers.org/hgnc/6139 rdfs:label "ITGA3" @@ -38181,10 +38194,10 @@ MONDO:0023290 rdfs:label "grix Blankenship Peterson syndrome" MONDO:0015427 rdfs:label "paroxysmal dyskinesia" FOODON:03400352 rdfs:label "international agency food product type"@en UBERON:0005319 rdfs:label "mesonephric collecting duct" -MONDO:0015603 rdfs:label "obsolete rare odontal or periodontal disorder" MONDO:0009007 rdfs:label "Jalili syndrome" -MONDO:0005110 rdfs:label "idiopathic cardiomyopathy" +MONDO:0015603 rdfs:label "obsolete rare odontal or periodontal disorder" MONDO:0013726 rdfs:label "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" +MONDO:0005110 rdfs:label "idiopathic cardiomyopathy" CL:0002435 rdfs:label "CD69-positive, CD8-positive single-positive thymocyte" MONDO:0008291 rdfs:label "porokeratosis plantaris palmaris et disseminata" MONDO:0010104 rdfs:label "non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome" @@ -38242,7 +38255,7 @@ MONDO:0018874 rdfs:label "acute myeloid leukemia" MONDO:0014529 rdfs:label "cerebellar-facial-dental syndrome" MONDO:0009751 rdfs:label "neuropathy, hereditary sensory, atypical" MONDO:0004780 rdfs:label "strictly posterior acute myocardial infarction" -MONDO:0016999 rdfs:label "X chromosome number anomaly" +MONDO:0016999 rdfs:label "obsolete X chromosome number anomaly" MONDO:0014306 rdfs:label "vasculitis due to ADA2 deficiency" MONDO:0001906 rdfs:label "posterior dislocation of lens" MONDO:0013590 rdfs:label "Stickler syndrome, type 4" @@ -38296,8 +38309,8 @@ GO:0035176 rdfs:label "social behavior" NCBITaxon:5873 rdfs:label "Theileria" ENVO:01000452 rdfs:label "environmental disposition" HP:0010522 rdfs:label "Dyslexia" -UBERON:0001287 rdfs:label "proximal convoluted tubule" MONDO:0011264 rdfs:label "torsion dystonia 6" +UBERON:0001287 rdfs:label "proximal convoluted tubule" MONDO:0002398 rdfs:label "mucinous adenofibroma" MONDO:0003585 rdfs:label "adult liposarcoma" MONDO:0006154 rdfs:label "colon mucosa-associated lymphoid tissue lymphoma" @@ -38317,13 +38330,13 @@ http://identifiers.org/hgnc/18145 rdfs:label "PHF6" MONDO:0020013 rdfs:label "obsolete rare odontologic disease" MONDO:0004372 rdfs:label "chronic toxic polyneuropathy" CL:0002005 rdfs:label "CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell" -MONDO:0054804 rdfs:label "microcephaly 21, primary, autosomal recessive" MONDO:0011485 rdfs:label "autosomal recessive congenital ichthyosis 5" http://identifiers.org/hgnc/18481 rdfs:label "ATP6V0A2" GO:0072369 rdfs:label "obsolete regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter" GO:0099503 rdfs:label "secretory vesicle" MONDO:0012127 rdfs:label "autosomal recessive limb-girdle muscular dystrophy type 2J" MONDO:0018289 rdfs:label "obsolete congenital disorder of glycosylation with dilated cardiomyopathy" +MONDO:0054804 rdfs:label "microcephaly 21, primary, autosomal recessive" MONDO:0013685 rdfs:label "pancreatic cancer, susceptibility to, 4" MONDO:0017074 rdfs:label "cervicothoracic spina bifida cystica" MONDO:0100196 rdfs:label "TPM2-related myopathy" @@ -38433,8 +38446,8 @@ MONDO:0002235 rdfs:label "eyelid neoplasm" MONDO:0003793 rdfs:label "obsolete uterine carcinosarcoma" http://identifiers.org/hgnc/30220 rdfs:label "RFT1" MONDO:0020610 rdfs:label "obsolete blood group, diego system" -MONDO:0001855 rdfs:label "rubeosis iridis" NCBITaxon:747 rdfs:label "Pasteurella multocida" +MONDO:0001855 rdfs:label "rubeosis iridis" http://identifiers.org/hgnc/2345 rdfs:label "CREB1" MONDO:0017106 rdfs:label "retrocerebellar cyst" MONDO:0010300 rdfs:label "intellectual disability, X-linked 53" @@ -38450,8 +38463,8 @@ MONDO:0016368 rdfs:label "Rothmund-Thomson syndrome type 1" CL:0000981 rdfs:label "double negative memory B cell" MONDO:0015281 rdfs:label "atrial standstill" http://identifiers.org/hgnc/11851 rdfs:label "TLR5" -http://identifiers.org/hgnc/4012 rdfs:label "FUT1" MONDO:0000453 rdfs:label "short QT syndrome" +http://identifiers.org/hgnc/4012 rdfs:label "FUT1" MONDO:0006356 rdfs:label "parotid gland adenoid cystic carcinoma" MONDO:0019744 rdfs:label "obsolete rare renal tubular disease" MONDO:0004195 rdfs:label "thymic dysplasia" @@ -38578,9 +38591,9 @@ MONDO:0004017 rdfs:label "pineal region immature teratoma" GO:0004555 rdfs:label "alpha,alpha-trehalase activity" NCBITaxon:29105 rdfs:label "Calomys" GO:0000226 rdfs:label "microtubule cytoskeleton organization" +MONDO:0045001 rdfs:label "cardiac ventricle disorder" MONDO:0006217 rdfs:label "gallbladder adenosquamous carcinoma" MONDO:0012440 rdfs:label "migraine with or without aura, susceptibility to, 10" -MONDO:0045001 rdfs:label "cardiac ventricle disorder" MONDO:0008647 rdfs:label "hypertrophic cardiomyopathy 1" GO:0043244 rdfs:label "regulation of protein-containing complex disassembly" http://identifiers.org/hgnc/1943 rdfs:label "CHN1" @@ -38614,8 +38627,8 @@ MONDO:0100392 rdfs:label "acute myeloid leukemia, t(11;17)" HP:0001927 rdfs:label "Acanthocytosis" MONDO:0008146 rdfs:label "osteogenesis imperfecta type 1" MONDO:0017265 rdfs:label "autosomal recessive congenital ichthyosis" -MONDO:0019192 rdfs:label "AKT2-related familial partial lipodystrophy" UBERON:0008835 rdfs:label "hepatic diverticulum" +MONDO:0019192 rdfs:label "AKT2-related familial partial lipodystrophy" http://identifiers.org/hgnc/19358 rdfs:label "ALG12" MONDO:0018211 rdfs:label "Balint syndrome" MONDO:0002437 rdfs:label "dehydration polycythemia" @@ -38703,17 +38716,17 @@ MONDO:0016557 rdfs:label "leukonychia totalis" HP:0004905 rdfs:label "Low levels of vitamin A" http://identifiers.org/hgnc/15517 rdfs:label "XYLT2" MONDO:0007847 rdfs:label "keloid formation" -MONDO:0019933 rdfs:label "acromegaly" UBERON:0010074 rdfs:label "chromaffin system" +MONDO:0019933 rdfs:label "acromegaly" MONDO:0009008 rdfs:label "heart defect - tongue hamartoma - polysyndactyly syndrome" -CL:0002436 rdfs:label "mature CD4 single-positive thymocyte" MONDO:0030937 rdfs:label "mitochondrial complex 2 deficiency, nuclear type 3" +CL:0002436 rdfs:label "mature CD4 single-positive thymocyte" MONDO:0012043 rdfs:label "Reis-Bucklers corneal dystrophy" MONDO:0011273 rdfs:label "H syndrome" MONDO:0008292 rdfs:label "punctate palmoplantar keratoderma type 2" UBERON:0009751 rdfs:label "cardiac mesenchyme" -MONDO:0020782 rdfs:label "chronic gingivitis" MONDO:0010105 rdfs:label "teratoma, pineal" +MONDO:0020782 rdfs:label "chronic gingivitis" MONDO:0011663 rdfs:label "juvenile primary lateral sclerosis" MONDO:0007095 rdfs:label "ameloonychohypohidrotic syndrome" ENVO:00000100 rdfs:label "valley" @@ -38757,11 +38770,11 @@ http://identifiers.org/hgnc/11023 rdfs:label "SLC35A3" MONDO:0019682 rdfs:label "congenital sialidosis type 2" http://identifiers.org/hgnc/1349 rdfs:label "SAMD9L" MONDO:0016032 rdfs:label "femoral agenesis/hypoplasia" -MONDO:0019549 rdfs:label "severe early-onset axonal neuropathy due to MFN2 deficiency" MONDO:0018485 rdfs:label "glycogen storage disease due to acid maltase deficiency, late-onset" MONDO:0011769 rdfs:label "obsolete familial aortic dissection" MONDO:0010515 rdfs:label "Meester-Loeys syndrome" GO:0042701 rdfs:label "progesterone secretion" +MONDO:0019549 rdfs:label "severe early-onset axonal neuropathy due to MFN2 deficiency" ENVO:01000010 rdfs:label "obsolete abiotic mesoscopic physical object" MONDO:0018875 rdfs:label "Li-Fraumeni syndrome" MONDO:0008639 rdfs:label "vascular helix of umbilical cord" @@ -38832,9 +38845,9 @@ MONDO:0020561 rdfs:label "myxoid/round cell liposarcoma" MONDO:0002689 rdfs:label "obsolete pseudomyxoma peritonei" MONDO:0003763 rdfs:label "acute stress disorder" MONDO:0022687 rdfs:label "cerebellar degeneration" -NCBITaxon:1980415 rdfs:label "Nairoviridae" HP:0000233 rdfs:label "Thin vermilion border" CHEBI:37395 rdfs:label "mucopolysaccharide" +NCBITaxon:1980415 rdfs:label "Nairoviridae" MONDO:0014394 rdfs:label "Diamond-Blackfan anemia 13" MONDO:0013140 rdfs:label "candidiasis, familial, 4" MONDO:0004509 rdfs:label "intrahepatic biliary papillomatosis" @@ -38859,8 +38872,8 @@ MONDO:0014581 rdfs:label "congenital myasthenic syndrome 2A" http://identifiers.org/hgnc/9832 rdfs:label "RAG2" http://identifiers.org/hgnc/4702 rdfs:label "GYPA" http://identifiers.org/hgnc/5461 rdfs:label "IGBP1" -NCBITaxon:694009 rdfs:label "Severe acute respiratory syndrome-related coronavirus" http://identifiers.org/hgnc/10955 rdfs:label "SLCO2A1" +NCBITaxon:694009 rdfs:label "Severe acute respiratory syndrome-related coronavirus" MONDO:0004373 rdfs:label "adult papillary meningioma" MONDO:0014027 rdfs:label "hypotrichosis 11" MONDO:0004026 rdfs:label "skin tag" @@ -38900,8 +38913,8 @@ MONDO:0016501 rdfs:label "Hermansky-Pudlak syndrome with pulmonary fibrosis" MONDO:0060568 rdfs:label "Pilarowski-Bjornsson syndrome" CL:0002006 rdfs:label "Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell" MONDO:0020164 rdfs:label "epicanthal fold" -MONDO:0011486 rdfs:label "congenital muscular dystrophy 1B" GO:0006860 rdfs:label "extracellular amino acid transport" +MONDO:0011486 rdfs:label "congenital muscular dystrophy 1B" FOODON:03420127 rdfs:label "animal body or body part"@en GO:0022834 rdfs:label "ligand-gated channel activity" MONDO:0012128 rdfs:label "dextro-looped transposition of the great arteries 1" @@ -38984,8 +38997,8 @@ CHR:9606-chr16p12.1 rdfs:label "16p12.1 (Human)" MONDO:0016753 rdfs:label "obsolete benign schwannoma" NCBITaxon:46682 rdfs:label "Heterakoidea" NCBITaxon:2049 rdfs:label "Actinomycetaceae" -UBERON:0016435 rdfs:label "chest wall" MONDO:0001594 rdfs:label "Achilles bursitis" +UBERON:0016435 rdfs:label "chest wall" http://identifiers.org/hgnc/6700 rdfs:label "LRP8" MONDO:0002236 rdfs:label "ocular cancer" MONDO:0003794 rdfs:label "obsolete mediastinal neurilemmoma" @@ -39032,8 +39045,8 @@ MONDO:0005612 rdfs:label "obsolete ovarian leiomyosarcoma" GO:0032781 rdfs:label "positive regulation of ATPase activity" MONDO:0007798 rdfs:label "obsolete adult hypophosphatasia" MONDO:0009354 rdfs:label "methylcobalamin deficiency type cblE" -CHEBI:59698 rdfs:label "phosphoric acids" UBERON:0004643 rdfs:label "lateral ventricle ependyma" +CHEBI:59698 rdfs:label "phosphoric acids" MONDO:0012703 rdfs:label "lissencephaly due to TUBA1A mutation" http://identifiers.org/hgnc/20653 rdfs:label "SLC9A9" ENVO:00002149 rdfs:label "sea water" @@ -39042,8 +39055,8 @@ MONDO:0015282 rdfs:label "cardiomyopathy-cataract-hip spine disease syndrome" UBERON:2001457 rdfs:label "postcranial axial cartilage" MONDO:0019745 rdfs:label "cystinuria type A" MONDO:0004196 rdfs:label "rectal sarcomatoid carcinoma" -MONDO:0009557 rdfs:label "mandibuloacral dysplasia with type A lipodystrophy" MONDO:0004586 rdfs:label "rheumatoid lung disease" +MONDO:0009557 rdfs:label "mandibuloacral dysplasia with type A lipodystrophy" MONDO:0002152 rdfs:label "intermittent squint" MONDO:0018548 rdfs:label "acute poisoning by drugs with membrane-stabilizing effect" MONDO:0009733 rdfs:label "nephrotic syndrome, type 4" @@ -39131,11 +39144,11 @@ MONDO:0013453 rdfs:label "Leber congenital amaurosis 8" UBERON:0003476 rdfs:label "respiratory system venous blood vessel" GO:0015349 rdfs:label "thyroid hormone transmembrane transporter activity" http://identifiers.org/hgnc/4170 rdfs:label "GATA1" -MONDO:0016369 rdfs:label "Rothmund-Thomson syndrome type 2" UBERON:0004422 rdfs:label "proximal epiphysis of first metacarpal bone" +MONDO:0016369 rdfs:label "Rothmund-Thomson syndrome type 2" +UBERON:0003866 rdfs:label "middle phalanx of pes" CHR:9606-chr8q2 rdfs:label "8q2 (Human)" MONDO:0017443 rdfs:label "congenital absence of both forearm and hand" -UBERON:0003866 rdfs:label "middle phalanx of pes" MONDO:0005459 rdfs:label "human African trypanosomiasis" MONDO:0015568 rdfs:label "isolated congenital nasal pyriform aperture stenosis" MONDO:0020229 rdfs:label "obsolete cerebral disease with cataract" @@ -39189,8 +39202,8 @@ MONDO:0016900 rdfs:label "obsolete partial deletion of the long arm of chromosom MONDO:0001047 rdfs:label "obsolete adrenal cortical hypofunction" MONDO:0000277 rdfs:label "obsolete Argentine hemorrhagic fever" http://identifiers.org/hgnc/13875 rdfs:label "FOXP2" -UBERON:0037447 rdfs:label "wall of male urethra" MONDO:0021392 rdfs:label "polyp of large intestine" +UBERON:0037447 rdfs:label "wall of male urethra" MONDO:0005638 rdfs:label "agnosia" MONDO:0000667 rdfs:label "auditory agnosia" MONDO:0024481 rdfs:label "skin appendage disorder" @@ -39276,9 +39289,9 @@ GO:0046907 rdfs:label "intracellular transport" MONDO:0013843 rdfs:label "intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency" MONDO:0015087 rdfs:label "autosomal dominant complex spastic paraplegia" GO:0045844 rdfs:label "positive regulation of striated muscle tissue development" -MONDO:0016033 rdfs:label "Cornelia de Lange syndrome" -UBERON:0006657 rdfs:label "glenoid fossa" UBERON:0013067 rdfs:label "colorectal mucosa" +UBERON:0006657 rdfs:label "glenoid fossa" +MONDO:0016033 rdfs:label "Cornelia de Lange syndrome" MONDO:0018486 rdfs:label "visual snow syndrome" MONDO:0010516 rdfs:label "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis" MONDO:0019817 rdfs:label "congenital mitral valve insufficiency and/or stenosis" @@ -39396,11 +39409,11 @@ MONDO:0030069 rdfs:label "hyper-IgE recurrent infection syndrome 5, autosomal re GO:0036072 rdfs:label "direct ossification" MONDO:0006156 rdfs:label "colon sessile serrated adenoma/polyp" http://identifiers.org/hgnc/6024 rdfs:label "IL7R" -UBERON:0010688 rdfs:label "skeleton of manual acropodium" ENVO:01000317 rdfs:label "aquatic environment" UBERON:0006518 rdfs:label "right lung lobe" MONDO:0013269 rdfs:label "autosomal recessive nonsyndromic hearing loss 91" MONDO:0015124 rdfs:label "obsolete rare adrenal disease" +UBERON:0010688 rdfs:label "skeleton of manual acropodium" MONDO:0008890 rdfs:label "progressive bulbar palsy" MONDO:0031011 rdfs:label "neurodevelopmental disorder with dysmorphic facies and variable seizures" MONDO:0012246 rdfs:label "spinocerebellar ataxia type 26" @@ -39413,14 +39426,14 @@ http://identifiers.org/hgnc/4703 rdfs:label "GYPB" SO:0000483 rdfs:label "nc_primary_transcript" NCBITaxon:73421 rdfs:label "Dicrocoeliidae" MONDO:0008088 rdfs:label "neuropathy, with paraprotein in serum, cerebrospinal fluid and urine" -UBERON:0010701 rdfs:label "phalanx cartilage element" MONDO:0004374 rdfs:label "adult extraskeletal osteosarcoma" MONDO:0010954 rdfs:label "Wiskott-Aldrich syndrome, autosomal dominant form" +UBERON:0010701 rdfs:label "phalanx cartilage element" http://identifiers.org/hgnc/15455 rdfs:label "MBTPS2" MONDO:0000834 rdfs:label "obsolete bone deterioration disease" http://identifiers.org/hgnc/9081 rdfs:label "PLOD1" MONDO:0011900 rdfs:label "porokeratosis 4, disseminated superficial actinic type" -MONDO:0019683 rdfs:label "syndactyly type 2" +MONDO:0019683 rdfs:label "obsolete syndactyly type 2" CHEBI:83056 rdfs:label "Daphnia magna metabolite" UBERON:0007122 rdfs:label "pharyngeal pouch 1" MONDO:0011487 rdfs:label "Huntington disease-like 3" @@ -39461,11 +39474,11 @@ GO:0050747 rdfs:label "positive regulation of lipoprotein metabolic process" MONDO:0020423 rdfs:label "stenosis or atrophy of the coronary ostium" MONDO:0004782 rdfs:label "diabetes insipidus" MONDO:0018056 rdfs:label "bullous lichen planus" +NCBITaxon:6201 rdfs:label "Cyclophyllidea" MONDO:0018699 rdfs:label "obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy" GO:0140244 rdfs:label "regulation of translation at presynapse" MONDO:0012539 rdfs:label "Joubert syndrome 6" MONDO:0005177 rdfs:label "serous cystadenoma" -NCBITaxon:6201 rdfs:label "Cyclophyllidea" MONDO:0016118 rdfs:label "muscular glycogenosis" MONDO:0007146 rdfs:label "obsolete apnea, central sleep" MONDO:0017943 rdfs:label "autoerythrocyte sensitization syndrome" @@ -39493,9 +39506,9 @@ MONDO:0019115 rdfs:label "obesity due to melanocortin 4 receptor deficiency" MONDO:0009955 rdfs:label "rapadilino syndrome" GO:0070874 rdfs:label "negative regulation of glycogen metabolic process" MONDO:0001772 rdfs:label "ulcer of anus and rectum" +MONDO:0013119 rdfs:label "autosomal recessive nonsyndromic hearing loss 77" CHEBI:45696 rdfs:label "hydrogensulfate" MONDO:0008740 rdfs:label "agnathia-otocephaly complex" -MONDO:0013119 rdfs:label "autosomal recessive nonsyndromic hearing loss 77" CHR:9606-chr8q12.1-q21.2 rdfs:label "8q12.1-q21.2 (Human)" MONDO:0002855 rdfs:label "ectomesenchymoma" MONDO:0001601 rdfs:label "Plasmodium ovale malaria" @@ -39530,9 +39543,9 @@ MONDO:0003587 rdfs:label "pediatric liposarcoma" http://identifiers.org/hgnc/467 rdfs:label "AMMECR1" UBERON:0006213 rdfs:label "carpus cartilage element" MONDO:0024531 rdfs:label "myopathy, tubular aggregate, 1" -HP:0002257 rdfs:label "Chronic rhinitis" HP:0009763 rdfs:label "Limb pain" MONDO:0003470 rdfs:label "cellular ependymoma" +HP:0002257 rdfs:label "Chronic rhinitis" GO:0005967 rdfs:label "mitochondrial pyruvate dehydrogenase complex" http://identifiers.org/hgnc/34383 rdfs:label "PCARE" UBERON:0001675 rdfs:label "trigeminal ganglion" @@ -39547,10 +39560,10 @@ GO:1905277 rdfs:label "negative regulation of epithelial tube formation" MONDO:0020238 rdfs:label "inherited vitreous-retinal disease" MONDO:0015881 rdfs:label "obsolete gastroesophageal tumor" UBERON:0004215 rdfs:label "back nerve" -NCBITaxon:11083 rdfs:label "Powassan virus" CL:0002101 rdfs:label "CD38-positive naive B cell" MONDO:0004971 rdfs:label "adenoid cystic carcinoma" MONDO:0017108 rdfs:label "isolated total cerebellar vermis agenesis" +NCBITaxon:11083 rdfs:label "Powassan virus" MONDO:0032870 rdfs:label "intellectual developmental disorder with short stature and behavioral abnormalities" MONDO:0005613 rdfs:label "mesonephric adenocarcinoma" GO:0032782 rdfs:label "bile acid secretion" @@ -39610,9 +39623,9 @@ MONDO:0023214 rdfs:label "gas bloat syndrome" MONDO:0011809 rdfs:label "obsolete mammographic density" MONDO:0006416 rdfs:label "small intestinal Burkitt lymphoma" MONDO:0019896 rdfs:label "Kleefstra syndrome due to 9q34 microdeletion" +UBERON:0001304 rdfs:label "germinal epithelium of ovary" MONDO:0008343 rdfs:label "pulmonary atresia with ventricular septal defect" GO:0022405 rdfs:label "hair cycle process" -UBERON:0001304 rdfs:label "germinal epithelium of ovary" MONDO:0014584 rdfs:label "congenital myasthenic syndrome 3B" MONDO:8000013 rdfs:label "portal hypertension, noncirrhotic, 1" MONDO:0032744 rdfs:label "spermatogenic failure 37" @@ -39672,8 +39685,8 @@ CL:0002062 rdfs:label "type I pneumocyte" MONDO:0001666 rdfs:label "retinal dystrophies primarily involving Bruch's membrane" MONDO:0007569 rdfs:label "erythema nodosum, familial" MONDO:0015062 rdfs:label "gastric neuroendocrine tumor, well differentiated, low or intermediate grade" -MONDO:0019349 rdfs:label "Sotos syndrome" GO:0022890 rdfs:label "inorganic cation transmembrane transporter activity" +MONDO:0019349 rdfs:label "Sotos syndrome" ENVO:01001201 rdfs:label "marine environmental zone"@en NCBITaxon:115425 rdfs:label "Cochliomyia hominivorax" UBERON:0012486 rdfs:label "muscle layer of cloaca" @@ -39700,8 +39713,8 @@ PATO:0001694 rdfs:label "decreased viscosity" CHEBI:30527 rdfs:label "flavin" MONDO:0021035 rdfs:label "alopecia-intellectual disability syndrome 1" ENVO:01000309 rdfs:label "cold environment" -UBERON:0003867 rdfs:label "distal phalanx of pes" MONDO:0017444 rdfs:label "congenital absence of both lower leg and foot" +UBERON:0003867 rdfs:label "distal phalanx of pes" MONDO:0015283 rdfs:label "maternally-inherited cardiomyopathy and hearing loss" http://identifiers.org/hgnc/24576 rdfs:label "CDT1" UBERON:0006853 rdfs:label "renal cortex tubule" @@ -39711,24 +39724,24 @@ MONDO:0015569 rdfs:label "congenital nasal pyriform aperture stenosis with holop CHEBI:52395 rdfs:label "oxyketone" MONDO:0002153 rdfs:label "telogen effluvium" HP:0000842 rdfs:label "Hyperinsulinemia" -http://identifiers.org/hgnc/1076 rdfs:label "BMPR1A" MONDO:0019194 rdfs:label "localized lipodystrophy" +http://identifiers.org/hgnc/1076 rdfs:label "BMPR1A" CL:0000820 rdfs:label "B-1a B cell" MONDO:0002439 rdfs:label "obsolete stress polycythemia" MONDO:0001048 rdfs:label "orbital granuloma" MONDO:0017748 rdfs:label "inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation" UBERON:0010882 rdfs:label "limb bone pre-cartilage condensation" MONDO:0005639 rdfs:label "AIDS related complex" -UBERON:0005226 rdfs:label "pedal digit epithelium" -MONDO:0032746 rdfs:label "hydatidiform mole, recurrent, 3" MONDO:0016685 rdfs:label "low-grade astrocytoma" +MONDO:0032746 rdfs:label "hydatidiform mole, recurrent, 3" CL:0002166 rdfs:label "epithelial cell of Malassez" +UBERON:0005226 rdfs:label "pedal digit epithelium" MONDO:0027751 rdfs:label "obsolete serpinopathy with loss of serpin function" MONDO:0018885 rdfs:label "orbital leiomyoma" GO:0002658 rdfs:label "regulation of peripheral tolerance induction" MONDO:0017631 rdfs:label "obsolete rare tumor of gallbladder and extrahepatic biliary tract" -UBERON:0034923 rdfs:label "disconnected anatomical group" http://identifiers.org/hgnc/3255 rdfs:label "EIF2AK3" +UBERON:0034923 rdfs:label "disconnected anatomical group" UBERON:0010023 rdfs:label "dorsal part of pharyngeal pouch 2" MONDO:0012592 rdfs:label "osteogenesis imperfecta type 11" MONDO:0044242 rdfs:label "obsolete mydriasis, congenital" @@ -39897,8 +39910,8 @@ MONDO:0020800 rdfs:label "demyelinating disease of central nervous system" MONDO:0016724 rdfs:label "papillary tumor of the pineal region" UBERON:0001519 rdfs:label "skin of manus" MONDO:0020387 rdfs:label "double outlet right ventricle with subpulmonary ventricular septal defect" -MONDO:0018924 rdfs:label "microphthalmia, Lenz type" MONDO:0010498 rdfs:label "MEND syndrome" +MONDO:0018924 rdfs:label "microphthalmia, Lenz type" GO:0043025 rdfs:label "neuronal cell body" UBERON:0012430 rdfs:label "tunica fibrosa of eyeball" MONDO:0006408 rdfs:label "sex hormone-producing adrenal cortex adenoma" @@ -39913,8 +39926,8 @@ NCBITaxon:11053 rdfs:label "Dengue virus 1" UBERON:0004990 rdfs:label "mucosa of ascending colon" http://identifiers.org/hgnc/29021 rdfs:label "CEP290" GO:0046878 rdfs:label "positive regulation of saliva secretion" -http://identifiers.org/hgnc/7193 rdfs:label "MOCS2" MONDO:0004849 rdfs:label "pulmonary emphysema" +http://identifiers.org/hgnc/7193 rdfs:label "MOCS2" http://identifiers.org/hgnc/15840 rdfs:label "KMT2B" MONDO:0000163 rdfs:label "obsolete breast-ovarian cancer, familial, susceptibility to" MONDO:0002363 rdfs:label "papilloma" @@ -39989,9 +40002,9 @@ MONDO:0004229 rdfs:label "acantholytic variant squamous cell breast carcinoma" MONDO:0020237 rdfs:label "lens shape anomaly" UBERON:0034728 rdfs:label "autonomic nerve" MONDO:0022140 rdfs:label "Charles bonnet syndrome" -http://identifiers.org/hgnc/2252 rdfs:label "CORO1A" HsapDv:0000114 rdfs:label "20-year-old human stage" MONDO:0001415 rdfs:label "atrophy of testis" +http://identifiers.org/hgnc/2252 rdfs:label "CORO1A" MONDO:0004596 rdfs:label "cor pulmonale" MONDO:0009284 rdfs:label "glutathione synthetase deficiency without 5-oxoprolinuria" CHEBI:33266 rdfs:label "diatomic nitrogen" @@ -40212,13 +40225,13 @@ MONDO:0020615 rdfs:label "obsolete blood group system, landsteiner-wiener" http://identifiers.org/hgnc/2348 rdfs:label "CREBBP" UBERON:0004216 rdfs:label "lower arm nerve" UBERON:0035109 rdfs:label "plantar nerve" -UBERON:0011213 rdfs:label "root of vagus nerve" MONDO:0011861 rdfs:label "breath-holding Spells" UBERON:0001884 rdfs:label "phrenic nerve" ECTO:7000083 rdfs:label "exposure to contaminated sediment" MONDO:0006825 rdfs:label "kuru" http://identifiers.org/hgnc/13187 rdfs:label "ZP1" GO:0044145 rdfs:label "modulation of formation of structure involved in a symbiotic process" +UBERON:0011213 rdfs:label "root of vagus nerve" GO:0070727 rdfs:label "cellular macromolecule localization" MONDO:0044876 rdfs:label "drug hypersensitivity syndrome" UBERON:0010507 rdfs:label "layer of dura mater" @@ -40250,8 +40263,8 @@ MONDO:0016686 rdfs:label "diffuse astrocytoma" MONDO:0032747 rdfs:label "hydatidiform mole, recurrent, 4" UBERON:0015083 rdfs:label "proximal tarsal bone pre-cartilage condensation" UBERON:0007282 rdfs:label "presumptive segmental plate" -MONDO:0018886 rdfs:label "obsolete listeriosis" MONDO:0006691 rdfs:label "obsolete causalgia" +MONDO:0018886 rdfs:label "obsolete listeriosis" MONDO:0017632 rdfs:label "obsolete rare tumor of liver and intrahepatic biliary tract" http://identifiers.org/hgnc/25566 rdfs:label "SETD5" GO:0061626 rdfs:label "pharyngeal arch artery morphogenesis" @@ -40372,14 +40385,14 @@ MONDO:0042233 rdfs:label "disseminated candidiasis" MONDO:0020292 rdfs:label "congenital anomaly of the great arteries" MONDO:0010056 rdfs:label "spinal muscular atrophy, type IV" MONDO:0013279 rdfs:label "long QT syndrome 13" -MONDO:0032912 rdfs:label "Coffin-Siris syndrome 11" MONDO:0011002 rdfs:label "neuropathy, hereditary motor and sensory, type 6A" GO:0060051 rdfs:label "negative regulation of protein glycosylation" MONDO:0014225 rdfs:label "hemochromatosis type 5" +MONDO:0032912 rdfs:label "Coffin-Siris syndrome 11" MONDO:0012899 rdfs:label "alopecia, androgenetic, 3" http://identifiers.org/hgnc/25774 rdfs:label "TCTN2" -MONDO:0013845 rdfs:label "auriculocondylar syndrome 2" MONDO:0030705 rdfs:label "Trichomonas prostatitis" +MONDO:0013845 rdfs:label "auriculocondylar syndrome 2" http://identifiers.org/hgnc/2860 rdfs:label "DHCR7" HP:0000517 rdfs:label "Abnormality of the lens" UBERON:0013069 rdfs:label "popliteal area" @@ -40387,8 +40400,8 @@ MONDO:0019021 rdfs:label "obsolete pigmented villonodular synovitis" GO:0006661 rdfs:label "phosphatidylinositol biosynthetic process" CHEBI:39144 rdfs:label "Lewis base" UBERON:0004810 rdfs:label "nephron tubule epithelium" -MONDO:0001331 rdfs:label "conjunctival deposit" NCBITaxon:570 rdfs:label "Klebsiella" +MONDO:0001331 rdfs:label "conjunctival deposit" ENVO:01000646 rdfs:label "lithosphere"@en MONDO:0032863 rdfs:label "spermatogenic failure 41" MONDO:0015453 rdfs:label "Cogan syndrome" @@ -40523,9 +40536,9 @@ UBERON:0012151 rdfs:label "skeleton of manual digitopodium" GO:0008645 rdfs:label "hexose transmembrane transport" MONDO:0010087 rdfs:label "Sugarman brachydactyly" MONDO:0011161 rdfs:label "sperm-specific antigen 1" +UBERON:0035435 rdfs:label "right suprarenal vein" GO:0001812 rdfs:label "positive regulation of type I hypersensitivity" HP:0003593 rdfs:label "Infantile onset" -UBERON:0035435 rdfs:label "right suprarenal vein" HsapDv:0000096 rdfs:label "2-year-old human stage" MONDO:0015276 rdfs:label "obsolete prostate cancer" MONDO:8000011 rdfs:label "visceral neuropathy, familial, 1, autosomal recessive" @@ -40535,8 +40548,8 @@ MONDO:0017476 rdfs:label "upper limb hypertrophy" MONDO:0008314 rdfs:label "pronation-supination of the forearm, impairment of" MONDO:0004597 rdfs:label "pulmonary embolism and infarction" MONDO:0009872 rdfs:label "Bjornstad syndrome" -http://identifiers.org/hgnc/4198 rdfs:label "GCM2" MONDO:0014910 rdfs:label "primary ciliary dyskinesia 35" +http://identifiers.org/hgnc/4198 rdfs:label "GCM2" MONDO:0017305 rdfs:label "syndromic oculocutaneous albinism" UBERON:0004802 rdfs:label "respiratory tract epithelium" MONDO:0014427 rdfs:label "cone-rod dystrophy 20" @@ -40578,9 +40591,9 @@ UBERON:0022299 rdfs:label "upper eyelid nerve" MONDO:0016933 rdfs:label "partial trisomy/tetrasomy of the short arm of chromosome 12" GO:0008233 rdfs:label "peptidase activity" MONDO:0100280 rdfs:label "Waldenstrom macroglobulinemia" +NCBITaxon:666 rdfs:label "Vibrio cholerae" GO:0046879 rdfs:label "hormone secretion" MONDO:0001774 rdfs:label "posterior scleritis" -NCBITaxon:666 rdfs:label "Vibrio cholerae" GO:0032228 rdfs:label "regulation of synaptic transmission, GABAergic" MONDO:0000404 rdfs:label "obsolete cell type cancer" MONDO:0002857 rdfs:label "gallbladder sarcoma" @@ -40605,8 +40618,8 @@ NCBITaxon:4857 rdfs:label "Entomophthorales" MONDO:0001845 rdfs:label "uterine corpus lipoleiomyoma" MONDO:0002070 rdfs:label "ventricular septal defect" MONDO:0018770 rdfs:label "Jeune syndrome" -MONDO:0004029 rdfs:label "obsolete ureter small cell carcinoma" MONDO:0009651 rdfs:label "obsolete pseudo-Hurler polydystrophy" +MONDO:0004029 rdfs:label "obsolete ureter small cell carcinoma" MONDO:0009304 rdfs:label "obsolete Gorlin-Chaudhry-Moss syndrome" MONDO:0005587 rdfs:label "obsolete non-Hodgkins lymphoma" MONDO:0014397 rdfs:label "combined oxidative phosphorylation defect type 20" @@ -40631,10 +40644,10 @@ MONDO:0015883 rdfs:label "hidrotic ectodermal dysplasia, Halal type" HP:0000509 rdfs:label "Conjunctivitis" MONDO:0032872 rdfs:label "ciliary dyskinesia, primary, 42" MONDO:0015462 rdfs:label "thin ribs-tubular bones-dysmorphism syndrome" -http://identifiers.org/hgnc/30172 rdfs:label "STRADA" UBERON:0004804 rdfs:label "oviduct epithelium" -MONDO:0001019 rdfs:label "suppression amblyopia" +http://identifiers.org/hgnc/30172 rdfs:label "STRADA" MONDO:0020017 rdfs:label "obsolete rare otorhinolaryngologic disease" +MONDO:0001019 rdfs:label "suppression amblyopia" MONDO:0002577 rdfs:label "extrahepatic bile duct rhabdomyosarcoma" MONDO:0022575 rdfs:label "biliary hypoplasia" http://identifiers.org/hgnc/2032 rdfs:label "CLDN1" @@ -40684,8 +40697,8 @@ MONDO:0005953 rdfs:label "scirrhous adenocarcinoma" CL:1000417 rdfs:label "myoepithelial cell of sweat gland" UBERON:8300000 rdfs:label "skin of scalp" CL:0000542 rdfs:label "lymphocyte" -GO:0001804 rdfs:label "negative regulation of type III hypersensitivity" CHEBI:76837 rdfs:label "EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 O atoms) inhibitor" +GO:0001804 rdfs:label "negative regulation of type III hypersensitivity" HP:0001269 rdfs:label "Hemiparesis" MONDO:0044642 rdfs:label "c11orf73-related autosomal recessive hypomyelinating leukodystrophy" MONDO:0012992 rdfs:label "pancreatic insufficiency-anemia-hyperostosis syndrome" @@ -40729,8 +40742,8 @@ MONDO:0008742 rdfs:label "autosomal dominant severe congenital neutropenia" http://identifiers.org/hgnc/15646 rdfs:label "KLHL7" http://identifiers.org/hgnc/811 rdfs:label "ATP2A1" HP:0000572 rdfs:label "Visual loss" -MONDO:0017173 rdfs:label "non-syndromic male infertility due to sperm motility disorder" MONDO:0018917 rdfs:label "obsolete Marfan syndrome" +MONDO:0017173 rdfs:label "non-syndromic male infertility due to sperm motility disorder" MONDO:0026763 rdfs:label "holoprosencephaly 13, X-linked" UBERON:0001679 rdfs:label "ethmoid bone" MONDO:0016756 rdfs:label "inherited nervous system cancer-predisposing syndrome" @@ -40796,8 +40809,8 @@ http://identifiers.org/hgnc/17797 rdfs:label "MAP3K20" CHEBI:51374 rdfs:label "GABA agent" http://identifiers.org/hgnc/1641 rdfs:label "CD209" GO:0090482 rdfs:label "vitamin transmembrane transporter activity" -MONDO:0002155 rdfs:label "cholecystitis" NCBITaxon:422676 rdfs:label "Aconoidasida" +MONDO:0002155 rdfs:label "cholecystitis" CHEBI:57934 rdfs:label "psychosine(1+)" MONDO:0007430 rdfs:label "dens evaginatus" MONDO:0010948 rdfs:label "cataract 10 multiple types" @@ -40839,8 +40852,8 @@ GO:0035369 rdfs:label "pre-B cell receptor complex" MONDO:0034186 rdfs:label "autosomal recessive extra-oral halitosis" MONDO:0005531 rdfs:label "morphine dependence" CL:1000123 rdfs:label "metanephric nephron tubule epithelial cell" -MONDO:0000229 rdfs:label "Indian tick typhus" NCBITaxon:28568 rdfs:label "Trichocomaceae" +MONDO:0000229 rdfs:label "Indian tick typhus" MONDO:0019078 rdfs:label "Ritscher-Schinzel syndrome" MONDO:0015979 rdfs:label "hereditary predisposition to infections" MONDO:0002429 rdfs:label "idiopathic interstitial pneumonia" @@ -40870,10 +40883,10 @@ MONDO:0018436 rdfs:label "megakaryoblastic acute myeloid leukemia with t(1;22)(p MONDO:0008547 rdfs:label "thanatophoric dysplasia type 2" ECTO:0010000 rdfs:label "exposure to environmental quality" CL:1001052 rdfs:label "kidney cortex vein cell" -MONDO:0014039 rdfs:label "mitochondrial DNA depletion syndrome 11" MONDO:0025085 rdfs:label "hepatitis, viral, animal" -MONDO:0001447 rdfs:label "detrusor sphincter dyssynergia" +MONDO:0014039 rdfs:label "mitochondrial DNA depletion syndrome 11" MONDO:0009660 rdfs:label "mucopolysaccharidosis type 4B" +MONDO:0001447 rdfs:label "detrusor sphincter dyssynergia" GO:0071623 rdfs:label "negative regulation of granulocyte chemotaxis" MONDO:0002521 rdfs:label "obsolete multiple symmetrical lipomatosis" UBERON:0010204 rdfs:label "tail vasculature" @@ -41003,8 +41016,8 @@ MONDO:0007686 rdfs:label "gray platelet syndrome" MONDO:0032679 rdfs:label "combined oxidative phosphorylation deficiency 37" MONDO:0022070 rdfs:label "Cantu sanchez-corona hernandez syndrome" MONDO:0020802 rdfs:label "obsolete basal cell cancer" -GO:0002252 rdfs:label "immune effector process" MONDO:0001612 rdfs:label "carotid stenosis" +GO:0002252 rdfs:label "immune effector process" MONDO:0007515 rdfs:label "ectopia pupillae" UBERON:0001183 rdfs:label "inferior mesenteric artery" CHEBI:25355 rdfs:label "mitochondrial respiratory-chain inhibitor" @@ -41131,11 +41144,11 @@ MONDO:0011669 rdfs:label "hypotonia-cystinuria syndrome" MONDO:0000373 rdfs:label "gall bladder carcinoma in situ" MONDO:0006276 rdfs:label "lung inflammatory myofibroblastic tumor" MONDO:0016726 rdfs:label "neuronal tumor" -MONDO:0020389 rdfs:label "pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome" MONDO:0600014 rdfs:label "alveolar capillary dysplasia without misalignment of pulmonary veins" +MONDO:0020389 rdfs:label "pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome" MONDO:0018926 rdfs:label "human prion disease" -MONDO:0009305 rdfs:label "granulocytopenia with immunoglobulin abnormality" CHEBI:37962 rdfs:label "adrenergic agent" +MONDO:0009305 rdfs:label "granulocytopenia with immunoglobulin abnormality" MONDO:0003767 rdfs:label "mitral valve disorder" CHEBI:83822 rdfs:label "non-proteinogenic L-alpha-amino acid" UBERON:0014639 rdfs:label "frontal sulcus" @@ -41145,8 +41158,8 @@ MONDO:0100398 rdfs:label "acute myeloid leukemia, inv(3)(q21.3;q26.2)" MONDO:0024711 rdfs:label "malignant mixed epithelial stromal tumor of the kidney" MONDO:0020625 rdfs:label "obsolete blood group--wright antigen" MONDO:0011832 rdfs:label "autosomal dominant nonsyndromic hearing loss 44" -CHEBI:62732 rdfs:label "aromatic ester" MONDO:0015190 rdfs:label "obsolete leiomyosarcoma of small intestine" +CHEBI:62732 rdfs:label "aromatic ester" MONDO:0100281 rdfs:label "macroglobulinemia, Waldenstrom, 1" ENVO:01001008 rdfs:label "meteor"@en UBERON:0035371 rdfs:label "retroperitoneal lymph node" @@ -41157,10 +41170,10 @@ MONDO:0006347 rdfs:label "pancreatic large cell neuroendocrine carcinoma" GO:0090066 rdfs:label "regulation of anatomical structure size" MONDO:0008250 rdfs:label "isolated growth hormone deficiency type II" MONDO:0031014 rdfs:label "autoimmune gastritis" +MONDO:0009723 rdfs:label "Leigh syndrome" CHEBI:17137 rdfs:label "hydrogensulfite" GO:0031400 rdfs:label "negative regulation of protein modification process" MONDO:0012908 rdfs:label "complement component 6 deficiency" -MONDO:0009723 rdfs:label "Leigh syndrome" http://identifiers.org/hgnc/9179 rdfs:label "POLG" MONDO:0010430 rdfs:label "intellectual disability, X-linked 97" CL:0002073 rdfs:label "transitional myocyte" @@ -41196,8 +41209,8 @@ MONDO:0024534 rdfs:label "Dowling-Degos disease 1" UBERON:0001678 rdfs:label "temporal bone" MONDO:0006966 rdfs:label "secondary Parkinson disease" MONDO:0015127 rdfs:label "pituitary deficiency" -MONDO:0016201 rdfs:label "qualitative or quantitative defects of myotilin" MONDO:0012249 rdfs:label "colorectal cancer, hereditary nonpolyposis, type 2" +MONDO:0016201 rdfs:label "qualitative or quantitative defects of myotilin" MONDO:0007912 rdfs:label "lithium transport" UBERON:0003080 rdfs:label "anterior neural tube" MONDO:0032905 rdfs:label "spastic paraplegia 81, autosomal recessive" @@ -41210,8 +41223,8 @@ CHR:9606-chr14q11.2 rdfs:label "14q11.2 (Human)" MONDO:0001419 rdfs:label "trachea squamous cell carcinoma" CHEBI:33362 rdfs:label "nickel group element atom" MONDO:0002578 rdfs:label "botryoid rhabdomyosarcoma" -http://identifiers.org/hgnc/2033 rdfs:label "CLDN10" MONDO:0022576 rdfs:label "bilirubin induced brain injury in the newborn" +http://identifiers.org/hgnc/2033 rdfs:label "CLDN10" MONDO:0017887 rdfs:label "renal cell carcinoma associated with neuroblastoma" CHEBI:23341 rdfs:label "cobamides" MONDO:0005954 rdfs:label "screw worm infectious disease" @@ -41246,9 +41259,9 @@ MONDO:0001848 rdfs:label "Morgagni cataract" MONDO:0044782 rdfs:label "esophageal ulcer" HP:0012443 rdfs:label "Abnormality of brain morphology" http://identifiers.org/hgnc/8783 rdfs:label "PDE4D" -UBERON:0037459 rdfs:label "hair of limb" MONDO:0003065 rdfs:label "nasal cavity inverting papilloma" GO:0042571 rdfs:label "immunoglobulin complex, circulating" +UBERON:0037459 rdfs:label "hair of limb" MONDO:0000679 rdfs:label "social emotional agnosia" CHEBI:32594 rdfs:label "barium atom" UBERON:0004797 rdfs:label "blood vessel layer" @@ -41317,8 +41330,8 @@ MONDO:0012414 rdfs:label "neuronal ceroid lipofuscinosis 10" GO:0034755 rdfs:label "iron ion transmembrane transport" http://identifiers.org/hgnc/29401 rdfs:label "MYSM1" MONDO:0017361 rdfs:label "congenital rubella syndrome" -MONDO:0060670 rdfs:label "amyotrophic lateral sclerosis, susceptibility to, 25" GO:0043565 rdfs:label "sequence-specific DNA binding" +MONDO:0060670 rdfs:label "amyotrophic lateral sclerosis, susceptibility to, 25" MONDO:0044214 rdfs:label "obsolete androstenone, ability to smell" MONDO:0006099 rdfs:label "obsolete B-cell prolymphocytic leukemia" http://identifiers.org/hgnc/17116 rdfs:label "CATSPER1" @@ -41411,17 +41424,17 @@ MONDO:0020300 rdfs:label "autosomal dominant nocturnal frontal lobe epilepsy" MONDO:0019079 rdfs:label "proximal spinal muscular atrophy" MONDO:0014845 rdfs:label "spinocerebellar ataxia, autosomal recessive 22" MONDO:0015182 rdfs:label "congenital enteropathy involving intestinal mucosa development" -GO:1900015 rdfs:label "regulation of cytokine production involved in inflammatory response" MONDO:0022428 rdfs:label "aluminosis" +GO:1900015 rdfs:label "regulation of cytokine production involved in inflammatory response" MONDO:0017035 rdfs:label "obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease" CL:1000449 rdfs:label "epithelial cell of nephron" HP:0000610 rdfs:label "Abnormal choroid morphology" MONDO:0008220 rdfs:label "obsolete pepsinogen 3, group 1" MONDO:0006829 rdfs:label "leukemoid reaction" -MONDO:0020585 rdfs:label "anemia due to erythrocyte enzyme disorder" MONDO:0021627 rdfs:label "eyelid capillary hemangioma" -MONDO:0001120 rdfs:label "chronic frontal sinusitis" +MONDO:0020585 rdfs:label "anemia due to erythrocyte enzyme disorder" CHEBI:24995 rdfs:label "lactam" +MONDO:0001120 rdfs:label "chronic frontal sinusitis" MONDO:0007023 rdfs:label "Yersinia infectious disease" MONDO:0037821 rdfs:label "porphyrin metabolism disease" MONDO:0003963 rdfs:label "diffuse infiltrative lymphocytosis syndrome" @@ -41511,16 +41524,16 @@ UBERON:0006218 rdfs:label "common atrial chamber" GO:0014832 rdfs:label "urinary bladder smooth muscle contraction" GO:0001649 rdfs:label "osteoblast differentiation" UBERON:0009671 rdfs:label "nasal fin" -MONDO:0012666 rdfs:label "asthma-related traits, susceptibility to, 6" UBERON:0009500 rdfs:label "periotic mesenchyme" +MONDO:0012666 rdfs:label "asthma-related traits, susceptibility to, 6" MONDO:0018216 rdfs:label "Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome" UBERON:0036214 rdfs:label "rectosigmoid junction" MONDO:0016904 rdfs:label "partial deletion of the long arm of chromosome 5" MONDO:0011091 rdfs:label "Charcot-Marie-Tooth disease type 2D" UBERON:0005229 rdfs:label "lower leg epithelium" -http://identifiers.org/hgnc/2411 rdfs:label "CRYGD" HP:0000025 rdfs:label "Functional abnormality of male internal genitalia" MONDO:0004427 rdfs:label "supraglottis neoplasm" +http://identifiers.org/hgnc/2411 rdfs:label "CRYGD" CL:0002559 rdfs:label "hair follicle cell" UBERON:0034926 rdfs:label "anatomical row" MONDO:0001613 rdfs:label "vertebrobasilar insufficiency" @@ -41536,19 +41549,19 @@ http://identifiers.org/hgnc/5173 rdfs:label "HRAS" HP:0002204 rdfs:label "Pulmonary embolism" MONDO:0031439 rdfs:label "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" http://identifiers.org/hgnc/7373 rdfs:label "MSN" -MONDO:0019244 rdfs:label "obsolete glycogen storage disease" UBERON:0016511 rdfs:label "lamina propria of fundus of stomach" +MONDO:0019244 rdfs:label "obsolete glycogen storage disease" MONDO:0700026 rdfs:label "chromosome 22 disorder" MONDO:0000343 rdfs:label "Barmah forest virus disease" -CL:2000032 rdfs:label "peripheral nervous system neuron" MONDO:0019634 rdfs:label "familial nasal acilia" +CL:2000032 rdfs:label "peripheral nervous system neuron" MONDO:0004085 rdfs:label "choroid epithelioid cell melanoma" CHEBI:15440 rdfs:label "squalene" MONDO:0006285 rdfs:label "major salivary gland carcinoma ex pleomorphic adenoma" MONDO:0005031 rdfs:label "fibromatosis" MONDO:0002041 rdfs:label "fungal infectious disease" MONDO:0018437 rdfs:label "acute myeloid leukemia with NPM1 somatic mutations" -MONDO:0008548 rdfs:label "theophylline Biotransformation" +MONDO:0008548 rdfs:label "obsolete theophylline Biotransformation" MONDO:0006114 rdfs:label "obsolete bladder squamous cell carcinoma" MONDO:0000601 rdfs:label "autoimmune disorder of urogenital tract" GO:0051276 rdfs:label "chromosome organization" @@ -41595,8 +41608,8 @@ MONDO:0011668 rdfs:label "maturity-onset diabetes of the young type 6" MONDO:0021491 rdfs:label "benign neoplasm of gum" CL:1000510 rdfs:label "kidney glomerular epithelial cell" CL:0007004 rdfs:label "premigratory neural crest cell" -MONDO:0030801 rdfs:label "monosomy 7 myelodysplasia and leukemia syndrome 2" MONDO:0003989 rdfs:label "polyembryoma of the ovary" +MONDO:0030801 rdfs:label "monosomy 7 myelodysplasia and leukemia syndrome 2" MONDO:0014093 rdfs:label "retinitis pigmentosa 66" MONDO:0010581 rdfs:label "diabetes insipidus, nephrogenic, X-linked" CHR:9606-chr17q21.3 rdfs:label "17q21.3 (Human)" @@ -41630,8 +41643,8 @@ UBERON:0012363 rdfs:label "thyroid follicle epithelium" MONDO:0008316 rdfs:label "thrombophilia due to protein C deficiency, autosomal dominant" MONDO:0012831 rdfs:label "inflammatory bowel disease 13" MONDO:0009874 rdfs:label "Rabson-Mendenhall syndrome" -MONDO:0024252 rdfs:label "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome" MONDO:0014429 rdfs:label "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" +MONDO:0024252 rdfs:label "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome" http://identifiers.org/hgnc/2888 rdfs:label "DISC1" MONDO:0100407 rdfs:label "acute myeloid leukemia, t(11;15)(p15;q35)" MONDO:0013342 rdfs:label "hereditary spastic paraplegia 48" @@ -41835,8 +41848,8 @@ MONDO:0014977 rdfs:label "autosomal recessive limb-girdle muscular dystrophy typ MONDO:0004484 rdfs:label "gallbladder melanoma" MONDO:0007883 rdfs:label "periodic fever, immunodeficiency, and thrombocytopenia syndrome" MONDO:0024348 rdfs:label "obsolete pityriasis capitis" -MONDO:0009172 rdfs:label "enterocolitis" MONDO:0003287 rdfs:label "central nervous system leiomyoma" +MONDO:0009172 rdfs:label "enterocolitis" NCBITaxon:4859 rdfs:label "Basidiobolus" MONDO:0012415 rdfs:label "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4" MONDO:0002072 rdfs:label "melanotic neuroectodermal tumor" @@ -42036,8 +42049,8 @@ UBERON:0004813 rdfs:label "seminiferous tubule epithelium" NCBITaxon:573 rdfs:label "Klebsiella pneumoniae" MONDO:0000973 rdfs:label "external ear lipoma" MONDO:0016643 rdfs:label "frontonasal dysplasia" -MONDO:0018843 rdfs:label "embryonal carcinoma of the central nervous system" http://identifiers.org/hgnc/11037 rdfs:label "SLC5A2" +MONDO:0018843 rdfs:label "embryonal carcinoma of the central nervous system" MFOMD:0000001 rdfs:label "mental disease" http://identifiers.org/hgnc/11427 rdfs:label "STUB1" MONDO:0003684 rdfs:label "clear cell chondrosarcoma" @@ -42097,12 +42110,12 @@ http://identifiers.org/hgnc/11781 rdfs:label "TGM5" MONDO:0004086 rdfs:label "ciliary body epithelioid cell melanoma" NCBITaxon:1884633 rdfs:label "Cryptococcaceae" MONDO:0003105 rdfs:label "prostate disorder" -PO:0025023 rdfs:label "collective phyllome structure" GO:0042611 rdfs:label "MHC protein complex" +PO:0025023 rdfs:label "collective phyllome structure" MONDO:0006286 rdfs:label "major salivary gland mucoepidermoid carcinoma" -MONDO:0024661 rdfs:label "tubulovillous adenoma" MONDO:0002042 rdfs:label "mechanical ectropion" MONDO:0018438 rdfs:label "eosinophilic gastrointestinal disease" +MONDO:0024661 rdfs:label "tubulovillous adenoma" MONDO:0013399 rdfs:label "obsolete cardiomyopathy, dilated, 1T" MONDO:0000602 rdfs:label "autoimmune disorder of blood" GO:0071071 rdfs:label "regulation of phospholipid biosynthetic process" @@ -42238,10 +42251,10 @@ MONDO:0017371 rdfs:label "obsolete rare head and neck tumor" MONDO:0008252 rdfs:label "platelet adenylate cyclase activity" MONDO:0002367 rdfs:label "kidney cancer" MONDO:0020742 rdfs:label "obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome" -MONDO:0022755 rdfs:label "chromosome 18 mosaic monosomy" MONDO:0007055 rdfs:label "acromicric dysplasia" -MONDO:0020321 rdfs:label "acute undifferentiated leukemia" +MONDO:0022755 rdfs:label "chromosome 18 mosaic monosomy" GO:0019751 rdfs:label "polyol metabolic process" +MONDO:0020321 rdfs:label "acute undifferentiated leukemia" MONDO:0010432 rdfs:label "thrombophilia, X-linked, due to factor 9 defect" MONDO:0005743 rdfs:label "encephalitozoonosis" GO:1903026 rdfs:label "negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding" @@ -42249,11 +42262,11 @@ MONDO:0004680 rdfs:label "primary thrombocytopenia" UBERON:1000004 rdfs:label "collection of hair on external ear" UBERON:0015418 rdfs:label "urethra mesenchymal layer" UBERON:0010213 rdfs:label "laryngeal pre-cartilage condensation" -MONDO:0012611 rdfs:label "polyhydramnios, megalencephaly, and symptomatic epilepsy" CL:0000438 rdfs:label "luteinizing hormone secreting cell" +MONDO:0012611 rdfs:label "polyhydramnios, megalencephaly, and symptomatic epilepsy" MONDO:0018773 rdfs:label "autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome" -MONDO:0030004 rdfs:label "autism, susceptibility to, 20" MONDO:0001998 rdfs:label "Foster-Kennedy syndrome" +MONDO:0030004 rdfs:label "autism, susceptibility to, 20" MONDO:0021353 rdfs:label "tumor of uterus" MONDO:0005097 rdfs:label "squamous cell lung carcinoma" MONDO:0007370 rdfs:label "coracoclavicular joint, anomalous" @@ -42373,10 +42386,10 @@ MONDO:0033615 rdfs:label "coenzyme q10 deficiency, primary, 9" MONDO:0008779 rdfs:label "arthrogryposis" GO:0042165 rdfs:label "neurotransmitter binding" MONDO:0009725 rdfs:label "nemaline myopathy 2" +UBERON:0036294 rdfs:label "mucosa of lip" NCBITaxon:543 rdfs:label "Enterobacteriaceae" http://identifiers.org/hgnc/7869 rdfs:label "NOL3" HP:0002754 rdfs:label "Osteomyelitis" -UBERON:0036294 rdfs:label "mucosa of lip" http://identifiers.org/hgnc/94 rdfs:label "ACAT2" GO:0090326 rdfs:label "positive regulation of locomotion involved in locomotory behavior" MONDO:0012639 rdfs:label "hereditary spastic paraplegia 18" @@ -42405,8 +42418,8 @@ MONDO:0004789 rdfs:label "cholangitis" MONDO:0008966 rdfs:label "Aagenaes syndrome" HP:0009115 rdfs:label "Aplasia/hypoplasia involving the skeleton" GO:0022607 rdfs:label "cellular component assembly" -MONDO:0008278 rdfs:label "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome" CL:0000148 rdfs:label "melanocyte" +MONDO:0008278 rdfs:label "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome" HP:0000972 rdfs:label "Palmoplantar hyperkeratosis" CL:0002262 rdfs:label "endothelial cell of sinusoid" MONDO:0018343 rdfs:label "periodic paralysis with later-onset distal motor neuropathy" @@ -42611,11 +42624,11 @@ MONDO:0700028 rdfs:label "chromosome Y disorder" MONDO:0000345 rdfs:label "Oropouche fever" ENVO:01001136 rdfs:label "ocean planet"@en MONDO:0017906 rdfs:label "amyloidosis cutis dyschromia" -NCBITaxon:92860 rdfs:label "Pleosporales" MONDO:0004087 rdfs:label "basaloid large cell lung carcinoma" http://identifiers.org/hgnc/11782 rdfs:label "TH" MONDO:0033006 rdfs:label "Galloway-Mowat syndrome 2, X-linked" MONDO:0015654 rdfs:label "obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes" +NCBITaxon:92860 rdfs:label "Pleosporales" MONDO:0006287 rdfs:label "malignancy in giant cell tumor of bone" NCBITaxon:6757 rdfs:label "Portunidae" http://identifiers.org/hgnc/6155 rdfs:label "ITGB2" @@ -42647,8 +42660,8 @@ http://identifiers.org/hgnc/1232 rdfs:label "EGLN1" MONDO:0012919 rdfs:label "type 1 diabetes mellitus 20" MONDO:0022940 rdfs:label "obsolete deafness hyperuricemia neurologic ataxia" CHEBI:33832 rdfs:label "organic cyclic compound" -http://identifiers.org/hgnc/8824 rdfs:label "SERPINF1" UBERON:0001417 rdfs:label "skin of neck" +http://identifiers.org/hgnc/8824 rdfs:label "SERPINF1" MONDO:0003106 rdfs:label "obsolete verrucous keratotic hemangioma" CL:0002067 rdfs:label "type A enteroendocrine cell" MONDO:0002390 rdfs:label "obsolete ossifying fibromyxoid tumor" @@ -42882,14 +42895,14 @@ MONDO:0019309 rdfs:label "late-onset junctional epidermolysis bullosa" NCBITaxon:162474 rdfs:label "Malasseziales" http://identifiers.org/hgnc/18475 rdfs:label "ZDHHC9" GO:0044065 rdfs:label "regulation of respiratory system process" -MONDO:0020745 rdfs:label "autosomal dominant cardiac arrhythmia (Kuhn)" +MONDO:0020745 rdfs:label "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome" CL:0000311 rdfs:label "keratin accumulating cell" CHEBI:145795 rdfs:label "digoxin(1-)" PATO:0000117 rdfs:label "size" MONDO:0022758 rdfs:label "chromosome 22, monosome mosaic" MONDO:0020322 rdfs:label "acute biphenotypic leukemia" -http://identifiers.org/hgnc/14270 rdfs:label "PCDH19" GO:0019752 rdfs:label "carboxylic acid metabolic process" +http://identifiers.org/hgnc/14270 rdfs:label "PCDH19" MONDO:0010433 rdfs:label "systemic lupus erythematosus, susceptibility to, 15" MONDO:0016595 rdfs:label "inhalational anthrax" UBERON:0014399 rdfs:label "sinusoidal space" @@ -42911,8 +42924,8 @@ MONDO:0006665 rdfs:label "chronic atrophic gastritis" CHEBI:59999 rdfs:label "chemical substance" GO:0032774 rdfs:label "RNA biosynthetic process" MONDO:0007611 rdfs:label "obsolete Zimmermann-Laband syndrome" -CHEBI:33637 rdfs:label "ortho-fused compound" MONDO:0030007 rdfs:label "combined oxidative phosphorylation deficiency 41" +CHEBI:33637 rdfs:label "ortho-fused compound" MONDO:0020628 rdfs:label "microcephaly, growth restriction, and increased sister chromatid exchange 2" MONDO:0000607 rdfs:label "primary cutaneous T-cell non-Hodgkin lymphoma" MONDO:0014260 rdfs:label "immunodeficiency, common variable, 10" @@ -42939,8 +42952,8 @@ MONDO:0016653 rdfs:label "2q33.1 microdeletion syndrome" UBERON:0001448 rdfs:label "metatarsal bone" CHEBI:64049 rdfs:label "food acidity regulator" MONDO:0042601 rdfs:label "Samson-Gardner syndrome" -MONDO:0020492 rdfs:label "hemimegalencephaly" MONDO:0007728 rdfs:label "acne inversa, familial, 1" +MONDO:0020492 rdfs:label "hemimegalencephaly" UBERON:0001225 rdfs:label "cortex of kidney" UBERON:0007128 rdfs:label "glomeral mesenchyme" MONDO:0014819 rdfs:label "autosomal dominant Robinow syndrome 3" @@ -42988,8 +43001,8 @@ GO:1900402 rdfs:label "obsolete regulation of carbohydrate metabolic process by UBERON:0010384 rdfs:label "lumen of laryngopharynx" NCBITaxon:1980517 rdfs:label "Orthonairovirus" NCBITaxon:1385 rdfs:label "Bacillales" -MONDO:0044646 rdfs:label "early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome" MONDO:0012996 rdfs:label "AGAT deficiency" +MONDO:0044646 rdfs:label "early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome" MONDO:0032596 rdfs:label "myasthenic syndrome, congenital, 23, presynaptic" http://identifiers.org/hgnc/28570 rdfs:label "DNAAF6" GO:0001067 rdfs:label "transcription regulatory region nucleic acid binding" @@ -43040,8 +43053,8 @@ MONDO:0010238 rdfs:label "hearing loss, X-linked 4" ENVO:01000813 rdfs:label "astronomical body part"@en MONDO:0009000 rdfs:label "familial reactive perforating collagenosis" MONDO:0020303 rdfs:label "Angelman syndrome due to paternal uniparental disomy of chromosome 15" -MONDO:0004486 rdfs:label "endocervical type cervical adenomyoma" UBERON:0036295 rdfs:label "renal pelvis/ureter" +MONDO:0004486 rdfs:label "endocervical type cervical adenomyoma" UBERON:0000974 rdfs:label "neck" MONDO:0009174 rdfs:label "protein-losing enteropathy" ENVO:00010505 rdfs:label "aerosol" @@ -43059,8 +43072,8 @@ MONDO:0017905 rdfs:label "X-linked mendelian susceptibility to mycobacterial dis MONDO:0014065 rdfs:label "mitochondrial complex III deficiency nuclear type 4" UBERON:0010039 rdfs:label "food storage organ" MONDO:0011679 rdfs:label "craniosynostosis syndrome, autosomal recessive" -UBERON:0001613 rdfs:label "occipital artery" FOODON:00001916 rdfs:label "grain based alcoholic beverage"@en +UBERON:0001613 rdfs:label "occipital artery" MONDO:0023809 rdfs:label "Milner-Khallouf-Gibson syndrome" MONDO:0003302 rdfs:label "epithelioid neurofibroma" MONDO:0002746 rdfs:label "fallopian tube adenocarcinoma" @@ -43129,9 +43142,9 @@ UBERON:0005724 rdfs:label "roof plate spinal cord region" MONDO:0028737 rdfs:label "obsolete biliary atresia disorder" UBERON:0003563 rdfs:label "telencephalon dura mater" MONDO:0008852 rdfs:label "congenital central hypoventilation syndrome" -HsapDv:0000128 rdfs:label "34-year-old human stage" MONDO:0033007 rdfs:label "Galloway-Mowat syndrome 3" -MONDO:0020062 rdfs:label "chromosome X structural anomaly" +HsapDv:0000128 rdfs:label "34-year-old human stage" +MONDO:0020062 rdfs:label "obsolete chromosome X structural anomaly" MONDO:0000294 rdfs:label "mesocestoidiasis" http://identifiers.org/hgnc/7981 rdfs:label "NR4A2" http://identifiers.org/hgnc/397 rdfs:label "ALAS2" @@ -43161,8 +43174,8 @@ MONDO:0002681 rdfs:label "choroid plexus cancer" UBERON:0003296 rdfs:label "gland of diencephalon" MONDO:0021121 rdfs:label "hemangioendothelioma" MONDO:0000060 rdfs:label "microcephalic osteodysplastic primordial dwarfism" -MONDO:0013930 rdfs:label "peroxisome biogenesis disorder 4A (Zellweger)" CHEBI:35604 rdfs:label "carbon oxoanion" +MONDO:0013930 rdfs:label "peroxisome biogenesis disorder 4A (Zellweger)" MONDO:0700029 rdfs:label "partial duplication of chromosome 13" MONDO:0044141 rdfs:label "panic disorder without agoraphobia" ENVO:01001137 rdfs:label "ice planet"@en @@ -43202,8 +43215,8 @@ CHR:9606-chr11q24.1 rdfs:label "11q24.1 (Human)" MONDO:0022941 rdfs:label "deafness hypospadias metacarpal and metatarsal syndrome" HP:0001510 rdfs:label "Growth delay" CHEBI:33833 rdfs:label "heteroarene" -MONDO:0000803 rdfs:label "obsolete tiger prawn allergy" UBERON:0001418 rdfs:label "skin of thorax" +MONDO:0000803 rdfs:label "obsolete tiger prawn allergy" http://identifiers.org/hgnc/24200 rdfs:label "FAM111B" CL:0002068 rdfs:label "Purkinje myocyte" http://identifiers.org/hgnc/30185 rdfs:label "CRBN" @@ -43261,8 +43274,8 @@ MONDO:0011751 rdfs:label "COPD, severe early onset" MONDO:0000419 rdfs:label "obsolete 3-Methylcrotonyl-CoA carboxylase deficiency" MONDO:0012834 rdfs:label "systemic lupus erythematosus, susceptibility to, 10" MONDO:0015728 rdfs:label "distal trisomy 15q" -MONDO:0100072 rdfs:label "neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts" MONDO:0024255 rdfs:label "genetic skin disease" +MONDO:0100072 rdfs:label "neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts" UBERON:0003368 rdfs:label "epithelium of hard palate" UBERON:0004314 rdfs:label "distal phalanx of manual digit 5" MONDO:0015505 rdfs:label "tracheal anomaly" @@ -43347,8 +43360,8 @@ MONDO:0006861 rdfs:label "myeloid sarcoma" MONDO:0021355 rdfs:label "neoplasm of esophagus" MONDO:0018282 rdfs:label "qualitative or quantitative defects of alpha-dystroglycan" MONDO:0005099 rdfs:label "subarachnoid hemorrhage" -MONDO:0020557 rdfs:label "pleuropulmonary blastoma type 3" MONDO:0006173 rdfs:label "conjunctival squamous cell carcinoma" +MONDO:0020557 rdfs:label "pleuropulmonary blastoma type 3" NCBITaxon:943 rdfs:label "Ehrlichia" GO:0016407 rdfs:label "acetyltransferase activity" MONDO:0006002 rdfs:label "urogenital tuberculosis" @@ -43364,9 +43377,9 @@ UBERON:0013239 rdfs:label "future glans penis" UBERON:0015871 rdfs:label "facial lymph node" MONDO:0000598 rdfs:label "aphasia" UBERON:0001189 rdfs:label "left testicular artery" +UBERON:0003218 rdfs:label "ovary septum" MONDO:0004391 rdfs:label "obsolete adult extraosseous chondrosarcoma" MONDO:0009487 rdfs:label "keratoconus and congenital hip dysplasia" -UBERON:0003218 rdfs:label "ovary septum" GO:0140237 rdfs:label "translation at presynapse, modulating chemical synaptic transmission" MONDO:0012836 rdfs:label "systemic lupus erythematosus, susceptibility to, 12" MONDO:0009877 rdfs:label "Laron syndrome" @@ -43542,8 +43555,8 @@ http://identifiers.org/hgnc/11367 rdfs:label "STAT5B" NCBITaxon:766 rdfs:label "Rickettsiales" CHEBI:22333 rdfs:label "alkylating agent" MONDO:0004556 rdfs:label "carcinoma arising in nasal papillomatosis" -GO:0045764 rdfs:label "positive regulation of cellular amino acid metabolic process" MONDO:0005630 rdfs:label "actinobacillosis" +GO:0045764 rdfs:label "positive regulation of cellular amino acid metabolic process" UBERON:0002029 rdfs:label "epithelium of gall bladder" MONDO:0009372 rdfs:label "encephalopathy due to hydroxykynureninuria" MONDO:0030869 rdfs:label "spermatogenic failures 50" @@ -43640,8 +43653,8 @@ MONDO:0019425 rdfs:label "obsolete X-linked intellectual disability-hypotonia-fa MONDO:0013471 rdfs:label "autosomal recessive nonsyndromic hearing loss 61" MONDO:0001735 rdfs:label "paranasal sinus disorder" NCBITaxon:123365 rdfs:label "Neoteleostei" -http://identifiers.org/hgnc/18420 rdfs:label "SETD2" MONDO:0018228 rdfs:label "bipartite talus" +http://identifiers.org/hgnc/18420 rdfs:label "SETD2" MONDO:0006033 rdfs:label "diffuse intrinsic pontine glioma" MONDO:0005477 rdfs:label "ventricular tachycardia" MONDO:0003390 rdfs:label "glycogen-rich clear cell breast carcinoma" @@ -43710,8 +43723,8 @@ MONDO:0021325 rdfs:label "malignant neoplasm of thoracic esophagus" GO:0010669 rdfs:label "epithelial structure maintenance" CL:0000117 rdfs:label "CNS neuron (sensu Vertebrata)" MONDO:0021501 rdfs:label "benign neoplasm of small intestine" -UBERON:0001782 rdfs:label "pigmented layer of retina" UBERON:0007685 rdfs:label "region of nephron tubule" +UBERON:0001782 rdfs:label "pigmented layer of retina" MONDO:0032833 rdfs:label "lower urinary tract obstruction, congenital" GO:1903797 rdfs:label "positive regulation of inorganic anion transmembrane transport" GO:0098869 rdfs:label "cellular oxidant detoxification" @@ -43739,8 +43752,8 @@ HP:0001159 rdfs:label "Syndactyly" MONDO:0014066 rdfs:label "mitochondrial complex III deficiency nuclear type 5" MONDO:0043762 rdfs:label "tubal pregnancy" MONDO:0002749 rdfs:label "extracranial neuroblastoma" -MONDO:0100481 rdfs:label "active tuberculosis" HP:0000272 rdfs:label "Malar flattening" +MONDO:0100481 rdfs:label "active tuberculosis" GO:0009156 rdfs:label "ribonucleoside monophosphate biosynthetic process" MONDO:0030061 rdfs:label "periventricular nodular heterotopia 9" UBERON:0012282 rdfs:label "mammary fat pad" @@ -43934,11 +43947,11 @@ MONDO:0009550 oboInOwl:hasRelatedSynonym "hypomagnesemia, primary, due to defect MONDO:0009550 oboInOwl:hasRelatedSynonym "hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included" MONDO:0009550 oboInOwl:hasRelatedSynonym "hypomagnesemia 3, renal" MONDO:0014105 oboInOwl:hasRelatedSynonym "HH19" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013042 oboInOwl:hasRelatedSynonym "aHUS4" MONDO:0013042 oboInOwl:hasRelatedSynonym "aHUS, susceptibility to, 4" MONDO:0013042 oboInOwl:hasRelatedSynonym "hemolytic uremic syndrome, atypical, susceptibility to, 4" MONDO:0013042 oboInOwl:hasRelatedSynonym "susceptibility to atypical hemolytic uremic syndrome 4" MONDO:0013042 oboInOwl:hasRelatedSynonym "AHUS4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013042 oboInOwl:hasRelatedSynonym "aHUS4" MONDO:0007279 oboInOwl:hasRelatedSynonym "cataract 7, cerulean type" MONDO:0007279 oboInOwl:hasRelatedSynonym "cataract, congenital, cerulean type, 1" MONDO:0010656 oboInOwl:hasRelatedSynonym "X-linked intellectual disability 78" @@ -44076,10 +44089,10 @@ MONDO:0010155 oboInOwl:hasRelatedSynonym "neutral lipid storage disease with ich MONDO:0010155 oboInOwl:hasRelatedSynonym "Dorfman Chanarin syndrome" MONDO:0010155 oboInOwl:hasRelatedSynonym "ichthyotic neutral Lipid storage disease" NCBITaxon:1980519 oboInOwl:hasRelatedSynonym "Crimean-Congo hemorrhagic fever virus" http://purl.obolibrary.org/obo/ncbitaxon#synonym +MONDO:0011606 oboInOwl:hasRelatedSynonym "baby rattle pelvic dysplasia" MONDO:0044207 oboInOwl:hasRelatedSynonym "SGD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044207 oboInOwl:hasRelatedSynonym "lactoferrin-deficient neutrophils" MONDO:0044207 oboInOwl:hasRelatedSynonym "neutrophil lactoferrin deficiency" -MONDO:0011606 oboInOwl:hasRelatedSynonym "baby rattle pelvic dysplasia" CHEBI:38297 oboInOwl:hasRelatedSynonym "thiabicycloalkanes" MONDO:0013940 oboInOwl:hasRelatedSynonym "ciliary dyskinesia, primary, 18, with or without situs inversus" MONDO:0013940 oboInOwl:hasRelatedSynonym "ciliary dyskinesia, primary, 18" @@ -44222,14 +44235,14 @@ MONDO:0020754 oboInOwl:hasRelatedSynonym "infantile visceral myopathy" MONDO:0020754 oboInOwl:hasRelatedSynonym "pseudoobstruction, idiopathic intestinal" MONDO:0020754 oboInOwl:hasRelatedSynonym "megaduodenum and/or megacystis" CHEBI:25806 oboInOwl:hasRelatedSynonym "oxygen molecular entities" -MONDO:0000979 oboInOwl:hasRelatedSynonym "Azul" -MONDO:0000979 oboInOwl:hasRelatedSynonym "Lota" -MONDO:0000979 oboInOwl:hasRelatedSynonym "Tina" +MONDO:0000979 oboInOwl:hasRelatedSynonym "infection by Treponema carateum" MONDO:0000979 oboInOwl:hasRelatedSynonym "Carate" MONDO:0000979 oboInOwl:hasRelatedSynonym "Mal del pinto" -MONDO:0000979 oboInOwl:hasRelatedSynonym "infection by Treponema carateum" -MONDO:0000979 oboInOwl:hasRelatedSynonym "Empeines" +MONDO:0000979 oboInOwl:hasRelatedSynonym "Lota" +MONDO:0000979 oboInOwl:hasRelatedSynonym "Tina" MONDO:0000979 oboInOwl:hasRelatedSynonym "endemic treponematosis caused by Treponema carateum" +MONDO:0000979 oboInOwl:hasRelatedSynonym "Azul" +MONDO:0000979 oboInOwl:hasRelatedSynonym "Empeines" MONDO:0100325 oboInOwl:hasRelatedSynonym "spondylometaphyseal dysplasia with dentinogenesis imperfecta" GO:0001944 oboInOwl:hasRelatedSynonym "vascular system development" MONDO:0008446 oboInOwl:hasRelatedSynonym "PRM4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -44240,8 +44253,8 @@ MONDO:0013472 oboInOwl:hasRelatedSynonym "myofibrillar myopathy type 7" ENVO:00000248 oboInOwl:hasRelatedSynonym "valley" NCBITaxon:4892 oboInOwl:hasRelatedSynonym "budding yeasts" http://purl.obolibrary.org/obo/ncbitaxon#blast_name NCBITaxon:4892 oboInOwl:hasRelatedSynonym "Endomycetales" http://purl.obolibrary.org/obo/ncbitaxon#synonym -MONDO:0013680 oboInOwl:hasRelatedSynonym "CIAT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012122 oboInOwl:hasRelatedSynonym "Moyamoya disease 3" +MONDO:0013680 oboInOwl:hasRelatedSynonym "CIAT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008018 oboInOwl:hasRelatedSynonym "MRTES" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008018 oboInOwl:hasRelatedSynonym "MUIR-Torre syndrome" MONDO:0008018 oboInOwl:hasRelatedSynonym "cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas" @@ -44279,8 +44292,8 @@ MONDO:0010164 oboInOwl:hasRelatedSynonym "Schinzel phocomelia syndrome" NCBITaxon:216285 oboInOwl:hasRelatedSynonym "Turbinoidea" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:216285 oboInOwl:hasRelatedSynonym "Phasianelloidea" http://purl.obolibrary.org/obo/ncbitaxon#synonym UBERON:0001988 oboInOwl:hasRelatedSynonym "excrement" -UBERON:0001988 oboInOwl:hasRelatedSynonym "droppings" UBERON:0001988 oboInOwl:hasRelatedSynonym "spoor" +UBERON:0001988 oboInOwl:hasRelatedSynonym "droppings" UBERON:0001988 oboInOwl:hasRelatedSynonym "ordure" MONDO:0003759 oboInOwl:hasRelatedSynonym "pediatric ovarian endodermal sinus tumor" MONDO:0003759 oboInOwl:hasRelatedSynonym "pediatric ovarian yolk Sac neoplasm" @@ -44331,17 +44344,17 @@ MONDO:0008225 oboInOwl:hasRelatedSynonym "potassium-sensitive normokalemic perio MONDO:0009436 oboInOwl:hasRelatedSynonym "hamartoma of the hypothalamus" MONDO:0013099 oboInOwl:hasRelatedSynonym "combined pituitary hormone deficiencies, genetic forms" MONDO:0013099 oboInOwl:hasRelatedSynonym "familial hypopituitarism" -MONDO:0010572 oboInOwl:hasRelatedSynonym "EDS9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010572 oboInOwl:hasRelatedSynonym "EDS IX, formerly" MONDO:0010572 oboInOwl:hasRelatedSynonym "Ehlers-Danlos syndrome, occipital horn type (formerly)" +MONDO:0010572 oboInOwl:hasRelatedSynonym "cutis laxa, X-linked" MONDO:0010572 oboInOwl:hasRelatedSynonym "EDS9, formerly" -MONDO:0010572 oboInOwl:hasRelatedSynonym "OHS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010572 oboInOwl:hasRelatedSynonym "Ehlers-Danlos syndrome, occipital horn type" -MONDO:0010572 oboInOwl:hasRelatedSynonym "Ehlers-Danlos syndrome, occipital horn type, formerly" MONDO:0010572 oboInOwl:hasRelatedSynonym "cutis laxa, X-linked, formerly" -MONDO:0010572 oboInOwl:hasRelatedSynonym "EDS IX (formerly)" -MONDO:0010572 oboInOwl:hasRelatedSynonym "cutis laxa, X-linked" MONDO:0010572 oboInOwl:hasRelatedSynonym "cutis laxa X-linked" +MONDO:0010572 oboInOwl:hasRelatedSynonym "Ehlers-Danlos syndrome, occipital horn type" +MONDO:0010572 oboInOwl:hasRelatedSynonym "OHS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010572 oboInOwl:hasRelatedSynonym "EDS IX (formerly)" +MONDO:0010572 oboInOwl:hasRelatedSynonym "Ehlers-Danlos syndrome, occipital horn type, formerly" +MONDO:0010572 oboInOwl:hasRelatedSynonym "EDS9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010572 oboInOwl:hasRelatedSynonym "EDS IX, formerly" MONDO:0033532 oboInOwl:hasRelatedSynonym "SULEIMAN-EL-HATTAB SYNDROME" MONDO:0033532 oboInOwl:hasRelatedSynonym "SULEHS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002046 oboInOwl:hasRelatedSynonym "alcohol use disorder" @@ -44525,8 +44538,8 @@ MONDO:0013043 oboInOwl:hasRelatedSynonym "Ahus, susceptibility to, 5" MONDO:0013043 oboInOwl:hasRelatedSynonym "susceptibility to atypical hemolytic uremic syndrome 5" MONDO:0013043 oboInOwl:hasRelatedSynonym "hemolytic uremic syndrome, atypical, susceptibility to, 5" MONDO:0005109 oboInOwl:hasRelatedSynonym "human immunodeficiency virus infectious disease" -MONDO:0008642 oboInOwl:hasRelatedSynonym "VATER syndrome" MONDO:0008642 oboInOwl:hasRelatedSynonym "VATER/VACTERL association" +MONDO:0008642 oboInOwl:hasRelatedSynonym "VATER syndrome" MONDO:0009879 oboInOwl:hasRelatedSynonym "KOWARSKI syndrome" MONDO:0009879 oboInOwl:hasRelatedSynonym "pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin" MONDO:0009879 oboInOwl:hasRelatedSynonym "Biodefective Growth hormone" @@ -44537,12 +44550,12 @@ CHEBI:33720 oboInOwl:hasRelatedSynonym "carbohydrate acids" MONDO:0012408 oboInOwl:hasRelatedSynonym "microphthalmia, cataracts, and iris abnormalities" MONDO:0012408 oboInOwl:hasRelatedSynonym "microphthalmia, colobomatous, isolated 3" MONDO:0012408 oboInOwl:hasRelatedSynonym "MCOPCB3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0054665 oboInOwl:hasRelatedSynonym "PITA3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010156 oboInOwl:hasRelatedSynonym "spastic paraplegia 20, autosomal recessive" MONDO:0010156 oboInOwl:hasRelatedSynonym "spastic paraplegia 20" MONDO:0010156 oboInOwl:hasRelatedSynonym "spastic paraplegia, autosomal recessive, Troyer type" MONDO:0010156 oboInOwl:hasRelatedSynonym "spastic paraparesis, childhood-onset, with distal muscle wasting" MONDO:0010156 oboInOwl:hasRelatedSynonym "Cross-McKusick syndrome" -MONDO:0054665 oboInOwl:hasRelatedSynonym "PITA3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:15705 oboInOwl:hasRelatedSynonym "L-Amino acid" CHEBI:15705 oboInOwl:hasRelatedSynonym "L-2-Amino acid" CHEBI:15705 oboInOwl:hasRelatedSynonym "L-alpha-amino acids" @@ -44552,12 +44565,12 @@ MONDO:0004558 oboInOwl:hasRelatedSynonym "colloid adenoma" MONDO:0009374 oboInOwl:hasRelatedSynonym "4 alpha hydroxy-L-proline oxidase deficiency" MONDO:0009374 oboInOwl:hasRelatedSynonym "HYDROXYPROLINEMIA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009374 oboInOwl:hasRelatedSynonym "4-hydroxy-L-proline oxidase deficiency" +MONDO:0011597 oboInOwl:hasRelatedSynonym "dermatitis, Atopic, with asthma" +MONDO:0011597 oboInOwl:hasRelatedSynonym "dermatitis, ATOPIC, 3" MONDO:0021758 oboInOwl:hasRelatedSynonym "agranulocytosis, acquired" MONDO:0021758 oboInOwl:hasRelatedSynonym "granulocytopenia, primary" MONDO:0021758 oboInOwl:hasRelatedSynonym "neutropenia, malignant" MONDO:0021758 oboInOwl:hasRelatedSynonym "agranulocytic angina" -MONDO:0011597 oboInOwl:hasRelatedSynonym "dermatitis, Atopic, with asthma" -MONDO:0011597 oboInOwl:hasRelatedSynonym "dermatitis, ATOPIC, 3" MONDO:0011426 oboInOwl:hasRelatedSynonym "hypoceruloplasminemia" MONDO:0011426 oboInOwl:hasRelatedSynonym "hemosiderosis, systemic, due to aceruloplasminemia" MONDO:0011426 oboInOwl:hasRelatedSynonym "familial apoceruloplasmin deficiency" @@ -45002,8 +45015,8 @@ MONDO:0007812 oboInOwl:hasRelatedSynonym "ichthyosis lamellar, autosomal dominan MONDO:0007812 oboInOwl:hasRelatedSynonym "lamellar ichthyosis, autosomal dominant" MONDO:0032805 oboInOwl:hasRelatedSynonym "HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT" MONDO:0032805 oboInOwl:hasRelatedSynonym "HOD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010378 oboInOwl:hasRelatedSynonym "DFNX5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010378 oboInOwl:hasRelatedSynonym "deafness, X-linked 5" +MONDO:0010378 oboInOwl:hasRelatedSynonym "DFNX5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010378 oboInOwl:hasRelatedSynonym "auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy" MONDO:0014194 oboInOwl:hasRelatedSynonym "mitochondrial Complex 3 deficiency, nuclear type 6" MONDO:0014194 oboInOwl:hasRelatedSynonym "mitochondrial complex III deficiency, nuclear type 6" @@ -45037,12 +45050,12 @@ MONDO:0017579 oboInOwl:hasRelatedSynonym "Fryns-Aftimos syndrome" MONDO:0017579 oboInOwl:hasRelatedSynonym "trigonocephaly ptosis mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0017579 oboInOwl:hasRelatedSynonym "cerebro-frontofacial syndrome, type 3" MONDO:0000766 oboInOwl:hasRelatedSynonym "endothelial dystrophy" -MONDO:0008760 oboInOwl:hasRelatedSynonym "Mat deficiency" -MONDO:0008760 oboInOwl:hasRelatedSynonym "mitochondrial acetoacetyl-Coa thiolase deficiency" MONDO:0008760 oboInOwl:hasRelatedSynonym "Beta ketothiolase deficiency" -MONDO:0008760 oboInOwl:hasRelatedSynonym "2-Methyl-3-hydroxybutyric acidemia" MONDO:0008760 oboInOwl:hasRelatedSynonym "ALPHA-methylacetoacetic aciduria" MONDO:0008760 oboInOwl:hasRelatedSynonym "3-Ktd deficiency" +MONDO:0008760 oboInOwl:hasRelatedSynonym "mitochondrial acetoacetyl-Coa thiolase deficiency" +MONDO:0008760 oboInOwl:hasRelatedSynonym "Mat deficiency" +MONDO:0008760 oboInOwl:hasRelatedSynonym "2-Methyl-3-hydroxybutyric acidemia" CHEBI:50910 oboInOwl:hasRelatedSynonym "neurotoxins" CHEBI:50910 oboInOwl:hasRelatedSynonym "nerve poisons" CHEBI:50910 oboInOwl:hasRelatedSynonym "neurotoxicant" @@ -45099,16 +45112,16 @@ MONDO:0011880 oboInOwl:hasRelatedSynonym "candidiasis, familial chronic nail, wi MONDO:0022513 oboInOwl:hasRelatedSynonym "congenital atrophoderma of Pasini and Pierini" MONDO:0022513 oboInOwl:hasRelatedSynonym "idiopathic atrophoderma of Pasini and Pierini" MONDO:0044322 oboInOwl:hasRelatedSynonym "IDDNPF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0003698 oboInOwl:hasRelatedSynonym "verrucous penile squamous cell carcinoma" MONDO:0009583 oboInOwl:hasRelatedSynonym "intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth" MONDO:0009583 oboInOwl:hasRelatedSynonym "mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0009583 oboInOwl:hasRelatedSynonym "Ohdo blepharophimosis syndrome" +MONDO:0003698 oboInOwl:hasRelatedSynonym "verrucous penile squamous cell carcinoma" MONDO:0011763 oboInOwl:hasRelatedSynonym "Tbx24" MONDO:0007016 oboInOwl:hasRelatedSynonym "deficiencies, vitamin A" MONDO:0007016 oboInOwl:hasRelatedSynonym "deficiency, vitamin A" MONDO:0007016 oboInOwl:hasRelatedSynonym "vitamin A deficiencies" -MONDO:0011608 oboInOwl:hasRelatedSynonym "dermatitis, ATOPIC, 5" GO:0034655 oboInOwl:hasRelatedSynonym "nucleobase, nucleoside, nucleotide and nucleic acid catabolic process" +MONDO:0011608 oboInOwl:hasRelatedSynonym "dermatitis, ATOPIC, 5" MONDO:0014055 oboInOwl:hasRelatedSynonym "cortical myoclonic tremor with epilepsy, familial, 4" MONDO:0014055 oboInOwl:hasRelatedSynonym "epilepsy, familial ADULT myoclonic, 4" MONDO:0013942 oboInOwl:hasRelatedSynonym "peroxisome biogenesis disorder, complementation group 9" @@ -45320,8 +45333,8 @@ MONDO:0000501 oboInOwl:hasRelatedSynonym "syndrome of opticoacoustic nerve atrop PATO:0000467 oboInOwl:hasRelatedSynonym "present in organism" MONDO:0017408 oboInOwl:hasRelatedSynonym "rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation" MONDO:0060564 oboInOwl:hasRelatedSynonym "hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia" -MONDO:0026727 oboInOwl:hasRelatedSynonym "SHUVER" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0026727 oboInOwl:hasRelatedSynonym "SHUKLA-VERNON SYNDROME" +MONDO:0026727 oboInOwl:hasRelatedSynonym "SHUVER" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:15377 oboInOwl:hasRelatedSynonym "BOUND WATER" CHEBI:15377 oboInOwl:hasRelatedSynonym "acqua" CHEBI:15377 oboInOwl:hasRelatedSynonym "[OH2]" @@ -45394,8 +45407,8 @@ MONDO:0011156 oboInOwl:hasRelatedSynonym "cholestasis, progressive familial intr MONDO:0013999 oboInOwl:hasRelatedSynonym "splenomegaly, cytopenia, and vision loss" CHEBI:33356 oboInOwl:hasRelatedSynonym "iron group elements" CHEBI:33356 oboInOwl:hasRelatedSynonym "iron group element" -MONDO:0026729 oboInOwl:hasRelatedSynonym "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc" MONDO:0026729 oboInOwl:hasRelatedSynonym "CDG1CC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0026729 oboInOwl:hasRelatedSynonym "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc" GO:0045683 oboInOwl:hasRelatedSynonym "negative regulation of hypodermis development" MONDO:0007564 oboInOwl:hasRelatedSynonym "PTR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007564 oboInOwl:hasRelatedSynonym "calcifying epithelioma of Malherbe" @@ -45823,21 +45836,21 @@ MONDO:0009775 oboInOwl:hasRelatedSynonym "Oguchi disease 1" MONDO:0008560 oboInOwl:hasRelatedSynonym "APC resistance" MONDO:0008560 oboInOwl:hasRelatedSynonym "Proc cofactor deficiency" MONDO:0008560 oboInOwl:hasRelatedSynonym "thrombophilia due to deficiency of Activated Protein C cofactor" +MONDO:0008560 oboInOwl:hasRelatedSynonym "thrombophilia due to Factor 5 Leiden" MONDO:0008560 oboInOwl:hasRelatedSynonym "thrombophilia 5" MONDO:0008560 oboInOwl:hasRelatedSynonym "THPH2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008560 oboInOwl:hasRelatedSynonym "thrombophilia due to Factor 5 Leiden" MONDO:0008560 oboInOwl:hasRelatedSynonym "resistance, APC" MONDO:0008560 oboInOwl:hasRelatedSynonym "thrombophilia due to ACTIVATED PROTEIN C resistance" MONDO:0008560 oboInOwl:hasRelatedSynonym "Activated Protein C resistance" MONDO:0008560 oboInOwl:hasRelatedSynonym "Pccf deficiency" MONDO:0013115 oboInOwl:hasRelatedSynonym "macrocephaly, alopecia, cutis laxa, and scoliosis" MONDO:0013115 oboInOwl:hasRelatedSynonym "tall forehead, sparse hair, skin hyperextensibility, and scoliosis" -MONDO:0007363 oboInOwl:hasRelatedSynonym "contractural arachnodactyly, congenital" -MONDO:0007363 oboInOwl:hasRelatedSynonym "arthrogryposis, distal, type 9" -MONDO:0007363 oboInOwl:hasRelatedSynonym "Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis" -MONDO:0007363 oboInOwl:hasRelatedSynonym "arachnodactyly, contractural Beals type" MONDO:0007363 oboInOwl:hasRelatedSynonym "contractures, multiple with arachnodactyly" +MONDO:0007363 oboInOwl:hasRelatedSynonym "arachnodactyly, contractural Beals type" +MONDO:0007363 oboInOwl:hasRelatedSynonym "arthrogryposis, distal, type 9" MONDO:0007363 oboInOwl:hasRelatedSynonym "DA9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007363 oboInOwl:hasRelatedSynonym "contractural arachnodactyly, congenital" +MONDO:0007363 oboInOwl:hasRelatedSynonym "Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis" MONDO:0011157 oboInOwl:hasRelatedSynonym "Cerebellotrigeminal dermal dysplasia" MONDO:0011157 oboInOwl:hasRelatedSynonym "Gómez-López-Hernández syndrome" MONDO:0011157 oboInOwl:hasRelatedSynonym "Gomez Lopez Hernandez syndrome" @@ -46292,8 +46305,8 @@ MONDO:0011921 oboInOwl:hasRelatedSynonym "aural atresia, congenital, with hyposm MONDO:0007177 oboInOwl:hasRelatedSynonym "multiple osseous dysplasia, characteristic ear shape, and short stature" MONDO:0007177 oboInOwl:hasRelatedSynonym "auriculo-osteodysplasia" MONDO:0021957 oboInOwl:hasRelatedSynonym "congenital nuclear cataract, autosomal recessive" -MONDO:0007743 oboInOwl:hasRelatedSynonym "ADHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007743 oboInOwl:hasRelatedSynonym "hyperactivity of childhood" +MONDO:0007743 oboInOwl:hasRelatedSynonym "ADHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010576 oboInOwl:hasRelatedSynonym "DFN3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010576 oboInOwl:hasRelatedSynonym "deafness conductive with stapes fixation" MONDO:0010576 oboInOwl:hasRelatedSynonym "deafness 3, conductive, with stapes fixation" @@ -46519,8 +46532,8 @@ MONDO:0009813 oboInOwl:hasRelatedSynonym "multifocal osteomyelitis, chronic" MONDO:0009813 oboInOwl:hasRelatedSynonym "osteomyelitis, chronic multifocal" MONDO:0009813 oboInOwl:hasRelatedSynonym "chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis" MONDO:0009378 oboInOwl:hasRelatedSynonym "hyperbetaalaninemia" -MONDO:0012727 oboInOwl:hasRelatedSynonym "Kawasaki syndrome" MONDO:0012727 oboInOwl:hasRelatedSynonym "Kd" +MONDO:0012727 oboInOwl:hasRelatedSynonym "Kawasaki syndrome" MONDO:0012727 oboInOwl:hasRelatedSynonym "infantile polyarteritis" MONDO:0012727 oboInOwl:hasRelatedSynonym "Kawasaki disease" HP:0200067 oboInOwl:hasRelatedSynonym "Spontaneous abortion, recurrent" @@ -46692,12 +46705,12 @@ MONDO:0013173 oboInOwl:hasRelatedSynonym "mental retardation, autosomal recessiv MONDO:0043275 oboInOwl:hasRelatedSynonym "Toxoplasma, rubella, cytomegalovirus and herpes simplex mixed infection" MONDO:0043275 oboInOwl:hasRelatedSynonym "toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus (torch) syndrome" MONDO:0043275 oboInOwl:hasRelatedSynonym "toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus syndrome" -MONDO:0012756 oboInOwl:hasRelatedSynonym "chromosome 16p11.2 deletion syndrome, 593-KB" -MONDO:0012756 oboInOwl:hasRelatedSynonym "autism, susceptibility to, 14A" -MONDO:0012756 oboInOwl:hasRelatedSynonym "chromosome 16p11.2 deletion syndrome" -MONDO:0012756 oboInOwl:hasRelatedSynonym "monosomy 16p11.2" MONDO:0012756 oboInOwl:hasRelatedSynonym "Del(16)(p11.2)" +MONDO:0012756 oboInOwl:hasRelatedSynonym "chromosome 16p11.2 deletion syndrome" MONDO:0012756 oboInOwl:hasRelatedSynonym "microdeletion 16p11.2" +MONDO:0012756 oboInOwl:hasRelatedSynonym "chromosome 16p11.2 deletion syndrome, 593-KB" +MONDO:0012756 oboInOwl:hasRelatedSynonym "monosomy 16p11.2" +MONDO:0012756 oboInOwl:hasRelatedSynonym "autism, susceptibility to, 14A" MONDO:0012756 oboInOwl:hasRelatedSynonym "16p11.2 deletion syndrome" MONDO:0012937 oboInOwl:hasRelatedSynonym "Aase-Smith syndrome 2" MONDO:0012937 oboInOwl:hasRelatedSynonym "DBA6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -46809,8 +46822,8 @@ GO:1905504 oboInOwl:hasRelatedSynonym "down regulation of motile primary cilium GO:1905504 oboInOwl:hasRelatedSynonym "down-regulation of motile primary cilium formation" GO:1905504 oboInOwl:hasRelatedSynonym "down regulation of motile primary cilium formation" GO:1905504 oboInOwl:hasRelatedSynonym "down-regulation of motile primary cilia assembly" -GO:1905504 oboInOwl:hasRelatedSynonym "down regulation of nodal cilium formation" GO:1905504 oboInOwl:hasRelatedSynonym "downregulation of motile primary cilium formation" +GO:1905504 oboInOwl:hasRelatedSynonym "down regulation of nodal cilium formation" GO:1905504 oboInOwl:hasRelatedSynonym "down-regulation of nodal cilium formation" GO:1905504 oboInOwl:hasRelatedSynonym "down-regulation of motile primary cilium assembly" GO:1905504 oboInOwl:hasRelatedSynonym "downregulation of motile primary cilia assembly" @@ -46861,8 +46874,8 @@ PATO:0000587 oboInOwl:hasRelatedSynonym "small" NCBITaxon:1513 oboInOwl:hasRelatedSynonym "Bacillus tetani" http://purl.obolibrary.org/obo/ncbitaxon#synonym MONDO:0011298 oboInOwl:hasRelatedSynonym "schizophrenia 8 with or without an affective disorder" MONDO:0011298 oboInOwl:hasRelatedSynonym "schizophrenia susceptibility locus, chromosome 18-related" -MONDO:0019713 oboInOwl:hasRelatedSynonym "isolated limb reduction defect" MONDO:0012244 oboInOwl:hasRelatedSynonym "HPC5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0019713 oboInOwl:hasRelatedSynonym "isolated limb reduction defect" MONDO:0008772 oboInOwl:hasRelatedSynonym "amelogenesis imperfecta pigmented hypomaturation type" MONDO:0008772 oboInOwl:hasRelatedSynonym "amelogenesis imperfecta, pigmented hypomaturation type, 1" MONDO:0008772 oboInOwl:hasRelatedSynonym "amelogenesis imperfecta, hypomaturation type, IIA1" @@ -46870,21 +46883,21 @@ MONDO:0011181 oboInOwl:hasRelatedSynonym "Feom2 locus" MONDO:0011181 oboInOwl:hasRelatedSynonym "CFEOM2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011181 oboInOwl:hasRelatedSynonym "fibrosis of extraocular muscles, congenital, autosomal recessive" MONDO:0016786 oboInOwl:hasRelatedSynonym "PHM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -CL:0001059 oboInOwl:hasRelatedSynonym "myeloid stem cell" CL:0001059 oboInOwl:hasRelatedSynonym "CFU-GEMM" CL:0001059 oboInOwl:hasRelatedSynonym "pluripotent stem cell (bone marrow)" CL:0001059 oboInOwl:hasRelatedSynonym "colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte" CL:0001059 oboInOwl:hasRelatedSynonym "CFU-S" +CL:0001059 oboInOwl:hasRelatedSynonym "myeloid stem cell" CL:0001059 oboInOwl:hasRelatedSynonym "multipotential myeloid stem cell" -MONDO:0010286 oboInOwl:hasRelatedSynonym "intellectual disability X-linked Siderius type" MONDO:0010286 oboInOwl:hasRelatedSynonym "X-linked intellectual disability Hamel type" +MONDO:0010286 oboInOwl:hasRelatedSynonym "intellectual deficit X-linked Siderius type" +MONDO:0010286 oboInOwl:hasRelatedSynonym "mental retardation X-linked Siderius type" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010286 oboInOwl:hasRelatedSynonym "Siderius Hamel syndrome" +MONDO:0010286 oboInOwl:hasRelatedSynonym "intellectual disability, X-linked, syndromic, Siderius type" MONDO:0010286 oboInOwl:hasRelatedSynonym "mental retardation, X-linked, syndromic, Siderius type" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010286 oboInOwl:hasRelatedSynonym "X-linked mental retardation Hamel type" http://purl.obolibrary.org/obo/mondo#DEPRECATED -MONDO:0010286 oboInOwl:hasRelatedSynonym "Siderius Hamel syndrome" -MONDO:0010286 oboInOwl:hasRelatedSynonym "mental retardation X-linked Siderius type" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010286 oboInOwl:hasRelatedSynonym "X-linked intellectual disability, Siderius type" -MONDO:0010286 oboInOwl:hasRelatedSynonym "intellectual deficit X-linked Siderius type" -MONDO:0010286 oboInOwl:hasRelatedSynonym "intellectual disability, X-linked, syndromic, Siderius type" +MONDO:0010286 oboInOwl:hasRelatedSynonym "intellectual disability X-linked Siderius type" NCBITaxon:1891762 oboInOwl:hasRelatedSynonym "Polyomavirus hominis 1" http://purl.obolibrary.org/obo/ncbitaxon#synonym MONDO:0013338 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth disease, recessive intermediate, B" MONDO:0013338 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth neuropathy, recessive Intermediate B" @@ -47119,7 +47132,6 @@ MONDO:0009229 oboInOwl:hasRelatedSynonym "inherited systemic hyalinosis" MONDO:0009229 oboInOwl:hasRelatedSynonym "HFS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009229 oboInOwl:hasRelatedSynonym "hyalinosis, systemic" MONDO:0009229 oboInOwl:hasRelatedSynonym "infantile systemic hyalinosis (former subtype)" -CHEBI:27958 oboInOwl:hasRelatedSynonym "Cocaina" CHEBI:27958 oboInOwl:hasRelatedSynonym "Neurocaine" CHEBI:27958 oboInOwl:hasRelatedSynonym "beta-Cocain" CHEBI:27958 oboInOwl:hasRelatedSynonym "[1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylic acid, methyl ester" @@ -47133,6 +47145,7 @@ CHEBI:27958 oboInOwl:hasRelatedSynonym "Kokain" CHEBI:27958 oboInOwl:hasRelatedSynonym "methyl benzoylecgonine" CHEBI:27958 oboInOwl:hasRelatedSynonym "cocainum" CHEBI:27958 oboInOwl:hasRelatedSynonym "methyl [1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate" +CHEBI:27958 oboInOwl:hasRelatedSynonym "Cocaina" MONDO:0011884 oboInOwl:hasRelatedSynonym "Hopp syndrome" MONDO:0044326 oboInOwl:hasRelatedSynonym "DEDSM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCBITaxon:6340 oboInOwl:hasRelatedSynonym "segmented worms" http://purl.obolibrary.org/obo/ncbitaxon#blast_name @@ -47295,8 +47308,8 @@ GO:1905505 oboInOwl:hasRelatedSynonym "upregulation of nodal cilium assembly" GO:1905505 oboInOwl:hasRelatedSynonym "up regulation of motile primary cilium formation" GO:1905505 oboInOwl:hasRelatedSynonym "upregulation of nodal cilium formation" GO:1905505 oboInOwl:hasRelatedSynonym "activation of nodal cilium formation" -GO:1905505 oboInOwl:hasRelatedSynonym "activation of nodal cilium assembly" GO:1905505 oboInOwl:hasRelatedSynonym "upregulation of motile primary cilium formation" +GO:1905505 oboInOwl:hasRelatedSynonym "activation of nodal cilium assembly" GO:1905505 oboInOwl:hasRelatedSynonym "up-regulation of motile primary cilium assembly" GO:1905505 oboInOwl:hasRelatedSynonym "upregulation of motile primary cilia assembly" GO:1905505 oboInOwl:hasRelatedSynonym "up regulation of nodal cilium formation" @@ -47442,18 +47455,18 @@ CL:1001595 oboInOwl:hasRelatedSynonym "rectal glandular cell" MONDO:0000224 oboInOwl:hasRelatedSynonym "carbohydrate metabolism disease" MONDO:0016787 oboInOwl:hasRelatedSynonym "ETT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017733 oboInOwl:hasRelatedSynonym "Alpha-mannosidosis adult-onset form" -MONDO:0007240 oboInOwl:hasRelatedSynonym "hereditary bundle branch system defect" -MONDO:0007240 oboInOwl:hasRelatedSynonym "Cardiac conduction defect, progressive" -MONDO:0007240 oboInOwl:hasRelatedSynonym "Cardiac conduction defect, nonprogressive" -MONDO:0007240 oboInOwl:hasRelatedSynonym "heart block progressive familial type 1" -MONDO:0007240 oboInOwl:hasRelatedSynonym "progressive familial heart block type 1A" -MONDO:0007240 oboInOwl:hasRelatedSynonym "Lev disease" MONDO:0007240 oboInOwl:hasRelatedSynonym "heart block, progressive familial, type 1" +MONDO:0007240 oboInOwl:hasRelatedSynonym "Cardiac conduction defect, nonprogressive" MONDO:0007240 oboInOwl:hasRelatedSynonym "heart block, nonprogressive" -MONDO:0007240 oboInOwl:hasRelatedSynonym "Lenegre disease" +MONDO:0007240 oboInOwl:hasRelatedSynonym "Lenegre-Lev disease" +MONDO:0007240 oboInOwl:hasRelatedSynonym "hereditary bundle branch system defect" MONDO:0007240 oboInOwl:hasRelatedSynonym "progressive familial heart block type IA" MONDO:0007240 oboInOwl:hasRelatedSynonym "Lenegre's syndrome" -MONDO:0007240 oboInOwl:hasRelatedSynonym "Lenegre-Lev disease" +MONDO:0007240 oboInOwl:hasRelatedSynonym "progressive familial heart block type 1A" +MONDO:0007240 oboInOwl:hasRelatedSynonym "heart block progressive familial type 1" +MONDO:0007240 oboInOwl:hasRelatedSynonym "Lev disease" +MONDO:0007240 oboInOwl:hasRelatedSynonym "Lenegre disease" +MONDO:0007240 oboInOwl:hasRelatedSynonym "Cardiac conduction defect, progressive" MONDO:0006823 oboInOwl:hasRelatedSynonym "hypogonadotropic hypogonadism" MONDO:0016670 oboInOwl:hasRelatedSynonym "sickle cell - hemoglobin D disease" MONDO:0012410 oboInOwl:hasRelatedSynonym "myopathy, distal, 3" @@ -48079,9 +48092,9 @@ CHEBI:138015 oboInOwl:hasRelatedSynonym "hormonally active agents" CHEBI:138015 oboInOwl:hasRelatedSynonym "endocrine-disrupting chemicals" HP:0012874 oboInOwl:hasRelatedSynonym "Abnormal male genital system physiology" MONDO:0008010 oboInOwl:hasRelatedSynonym "Msk1" -MONDO:0011035 oboInOwl:hasRelatedSynonym "Noonan-neurofibromatosis syndrome" MONDO:0011035 oboInOwl:hasRelatedSynonym "neurofibromatosis with Noonan phenotype" MONDO:0011035 oboInOwl:hasRelatedSynonym "Noonan neurofibromatosis syndrome" +MONDO:0011035 oboInOwl:hasRelatedSynonym "Noonan-neurofibromatosis syndrome" MONDO:0014258 oboInOwl:hasRelatedSynonym "Asns deficiency" MONDO:0014258 oboInOwl:hasRelatedSynonym "ASNSD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013878 oboInOwl:hasRelatedSynonym "PFBMFT1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -48091,11 +48104,11 @@ MONDO:0032896 oboInOwl:hasRelatedSynonym "SPGF42" http://purl.obolibrary.org/obo MONDO:0032896 oboInOwl:hasRelatedSynonym "SPERMATOGENIC FAILURE 42" MONDO:0015486 oboInOwl:hasRelatedSynonym "KC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015486 oboInOwl:hasRelatedSynonym "noninflammatory corneal thining" +MONDO:0012476 oboInOwl:hasRelatedSynonym "spastic paraplegia 30, autosomal recessive" +MONDO:0011222 oboInOwl:hasRelatedSynonym "glaucoma, primary open angle, adult-onset" GO:0060271 oboInOwl:hasRelatedSynonym "cilium morphogenesis" GO:0060271 oboInOwl:hasRelatedSynonym "cilium organization" GO:0060271 oboInOwl:hasRelatedSynonym "cilium biogenesis" -MONDO:0012476 oboInOwl:hasRelatedSynonym "spastic paraplegia 30, autosomal recessive" -MONDO:0011222 oboInOwl:hasRelatedSynonym "glaucoma, primary open angle, adult-onset" MONDO:0044276 oboInOwl:hasRelatedSynonym "SHEP11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044276 oboInOwl:hasRelatedSynonym "skin/hair/eye pigmentation 11, blue/Nonblue eyes" MONDO:0044276 oboInOwl:hasRelatedSynonym "Melanesian blond hair" @@ -48456,15 +48469,15 @@ MONDO:0005063 oboInOwl:hasRelatedSynonym "breast medullary carcinoma" CHEBI:51143 oboInOwl:hasRelatedSynonym "nitrogen molecular entities" CHEBI:51143 oboInOwl:hasRelatedSynonym "nitrogen compounds" CHEBI:51143 oboInOwl:hasRelatedSynonym "Nitrogenous compounds" +MONDO:0010315 oboInOwl:hasRelatedSynonym "immunodeficiency 4" MONDO:0010315 oboInOwl:hasRelatedSynonym "severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative" +MONDO:0010315 oboInOwl:hasRelatedSynonym "SCIDX" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010315 oboInOwl:hasRelatedSynonym "severe combined immunodeficiency, X-linked" MONDO:0010315 oboInOwl:hasRelatedSynonym "X-SCID" -MONDO:0010315 oboInOwl:hasRelatedSynonym "severe combined immunodeficiency T- B+ due to gamma chain deficiency" -MONDO:0010315 oboInOwl:hasRelatedSynonym "severe combined immunodeficiency T- B+, X-linked" MONDO:0010315 oboInOwl:hasRelatedSynonym "X-linked SCID" MONDO:0010315 oboInOwl:hasRelatedSynonym "SCID, X-linked" -MONDO:0010315 oboInOwl:hasRelatedSynonym "immunodeficiency 4" -MONDO:0010315 oboInOwl:hasRelatedSynonym "SCIDX" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010315 oboInOwl:hasRelatedSynonym "severe combined immunodeficiency T- B+, X-linked" +MONDO:0010315 oboInOwl:hasRelatedSynonym "severe combined immunodeficiency T- B+ due to gamma chain deficiency" MONDO:0014131 oboInOwl:hasRelatedSynonym "SHNS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014131 oboInOwl:hasRelatedSynonym "SHAHEEN syndrome" CHEBI:35820 oboInOwl:hasRelatedSynonym "antiprotozoal drugs" @@ -48693,8 +48706,6 @@ MONDO:0010903 oboInOwl:hasRelatedSynonym "CRSA" http://purl.obolibrary.org/obo/m MONDO:0008691 oboInOwl:hasRelatedSynonym "albumin binding of zinc, elevated" MONDO:0008691 oboInOwl:hasRelatedSynonym "hyperzincemia and hypercalprotectinemia" MONDO:0008691 oboInOwl:hasRelatedSynonym "hyperzincemia, familial Dysalbuminemic" -MONDO:0014320 oboInOwl:hasRelatedSynonym "BBSOAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014320 oboInOwl:hasRelatedSynonym "BOSCH-Boonstra-Schaaf optic atrophy syndrome" MONDO:0005556 oboInOwl:hasRelatedSynonym "Glomerulonephritides, lupus" MONDO:0005556 oboInOwl:hasRelatedSynonym "Nephritides, lupus" MONDO:0005556 oboInOwl:hasRelatedSynonym "lupus Nephritides" @@ -48922,8 +48933,8 @@ GO:0004807 oboInOwl:hasRelatedSynonym "D-glyceraldehyde-3-phosphate aldose-ketos MONDO:0013795 oboInOwl:hasRelatedSynonym "FBCG2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001209 oboInOwl:hasRelatedSynonym "viral wart" MONDO:0001209 oboInOwl:hasRelatedSynonym "viral Warts due to papilloma virus" -MONDO:0001209 oboInOwl:hasRelatedSynonym "viral Warts" MONDO:0001209 oboInOwl:hasRelatedSynonym "wart" +MONDO:0001209 oboInOwl:hasRelatedSynonym "viral Warts" MONDO:0016161 oboInOwl:hasRelatedSynonym "cerebral gigantism jaw cysts" MONDO:0016161 oboInOwl:hasRelatedSynonym "Cramer Niederdellmann syndrome" MONDO:0007808 oboInOwl:hasRelatedSynonym "ichthyosis HYSTRIX, Curth-Macklin type" @@ -49279,7 +49290,6 @@ MONDO:0016968 oboInOwl:hasRelatedSynonym "chromosome 18q duplication" MONDO:0005260 oboInOwl:hasRelatedSynonym "autistic disorder" MONDO:0022096 oboInOwl:hasRelatedSynonym "angiogranuloma" MONDO:0022096 oboInOwl:hasRelatedSynonym "Lobular Capillary Hemangioma" -MONDO:0022096 oboInOwl:hasRelatedSynonym "Pyogenic granuloma" MONDO:0022096 oboInOwl:hasRelatedSynonym "Lobular capillary hemangioma" MONDO:0022096 oboInOwl:hasRelatedSynonym "Granuloma telangiectaticum" MONDO:0022096 oboInOwl:hasRelatedSynonym "Granuloma Telangiecticum" @@ -49835,15 +49845,15 @@ MONDO:0010873 oboInOwl:hasRelatedSynonym "BH" http://purl.obolibrary.org/obo/mon MONDO:0017981 oboInOwl:hasRelatedSynonym "syngnathia cleft palate" MONDO:0011384 oboInOwl:hasRelatedSynonym "Hyt1" NCBITaxon:42461 oboInOwl:hasRelatedSynonym "Fungi/Metazoa incertae sedis" http://purl.obolibrary.org/obo/ncbitaxon#synonym +MONDO:0013584 oboInOwl:hasRelatedSynonym "hereditary sensory and autonomic neuropathy type 1E" +MONDO:0013584 oboInOwl:hasRelatedSynonym "hereditary sensory neuropathy with hearing loss and dementia" +MONDO:0013584 oboInOwl:hasRelatedSynonym "neuropathy, hereditary sensory, with hearing loss and dementia" MONDO:0013584 oboInOwl:hasRelatedSynonym "HSN 1E" +MONDO:0013584 oboInOwl:hasRelatedSynonym "HSNIE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013584 oboInOwl:hasRelatedSynonym "neuropathy, hereditary sensory, type 1E" MONDO:0013584 oboInOwl:hasRelatedSynonym "DNMT1-related dementia, deafness, and sensory neuropathy" -MONDO:0013584 oboInOwl:hasRelatedSynonym "HSNIE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013584 oboInOwl:hasRelatedSynonym "neuropathy, hereditary sensory, with hearing loss and dementia" -MONDO:0013584 oboInOwl:hasRelatedSynonym "hereditary sensory neuropathy with hearing loss and dementia" -MONDO:0013584 oboInOwl:hasRelatedSynonym "neuropathy, hereditary sensory, type IE" MONDO:0013584 oboInOwl:hasRelatedSynonym "hereditary sensory neuropathy type 1E" -MONDO:0013584 oboInOwl:hasRelatedSynonym "hereditary sensory and autonomic neuropathy type 1E" +MONDO:0013584 oboInOwl:hasRelatedSynonym "neuropathy, hereditary sensory, type IE" MONDO:0013237 oboInOwl:hasRelatedSynonym "carpal tunnel syndrome, susceptibility to" MONDO:0013237 oboInOwl:hasRelatedSynonym "MNMN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015528 oboInOwl:hasRelatedSynonym "gingival granular cell tumor" @@ -49926,9 +49936,9 @@ MONDO:0009548 oboInOwl:hasRelatedSynonym "HOMG5" http://purl.obolibrary.org/obo/ MONDO:0009548 oboInOwl:hasRelatedSynonym "hypomagnesemia 5, renal, with ocular involvement" MONDO:0009548 oboInOwl:hasRelatedSynonym "Meier Blumberg Imahorn syndrome" GO:0030202 oboInOwl:hasRelatedSynonym "heparan sulfate metabolic process" -MONDO:0013016 oboInOwl:hasRelatedSynonym "leukocyte adhesion deficiency, type III" MONDO:0013016 oboInOwl:hasRelatedSynonym "integrin Activation deficiency disease" MONDO:0013016 oboInOwl:hasRelatedSynonym "leukocyte adhesion deficiency, type 3" +MONDO:0013016 oboInOwl:hasRelatedSynonym "leukocyte adhesion deficiency, type III" CHEBI:47867 oboInOwl:hasRelatedSynonym "Indikator" MONDO:0014574 oboInOwl:hasRelatedSynonym "plack" MONDO:0014574 oboInOwl:hasRelatedSynonym "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" @@ -49993,11 +50003,11 @@ MONDO:0013805 oboInOwl:hasRelatedSynonym "mental retardation, autosomal dominant MONDO:0013805 oboInOwl:hasRelatedSynonym "mental retardation, autosomal dominant, 13, with neuronal migration defects" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0013805 oboInOwl:hasRelatedSynonym "autosomal dominant non-syndromic intellectual disability 13" MONDO:0013805 oboInOwl:hasRelatedSynonym "intellectual disability, autosomal dominant, 13, with neuronal migration defects" +MONDO:0009393 oboInOwl:hasRelatedSynonym "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome" MONDO:0009393 oboInOwl:hasRelatedSynonym "HHH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009393 oboInOwl:hasRelatedSynonym "Hhh syndrome" MONDO:0009393 oboInOwl:hasRelatedSynonym "HHHS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009393 oboInOwl:hasRelatedSynonym "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome" MONDO:0009393 oboInOwl:hasRelatedSynonym "ornithine translocase deficiency syndrome" +MONDO:0009393 oboInOwl:hasRelatedSynonym "Hhh syndrome" MONDO:0012636 oboInOwl:hasRelatedSynonym "periodic limb movements in sleep" MONDO:0010222 oboInOwl:hasRelatedSynonym "hypertelorism-hypospadias syndrome" MONDO:0010222 oboInOwl:hasRelatedSynonym "Opitz-G syndrome, type 1" @@ -50101,11 +50111,11 @@ MONDO:0012206 oboInOwl:hasRelatedSynonym "pseudorheumatoid dysplasia, progressiv MONDO:0012206 oboInOwl:hasRelatedSynonym "pseudorheumatoid dysplasia progressive, with hypoplastic toes" MONDO:0012206 oboInOwl:hasRelatedSynonym "Czech dysplasia metatarsal type" MONDO:0002145 oboInOwl:hasRelatedSynonym "disorders of sex development (DSD)" -MONDO:0008048 oboInOwl:hasRelatedSynonym "DNM2-related centronuclear myopathy" +MONDO:0008048 oboInOwl:hasRelatedSynonym "myotubular myopathy, autosomal dominant" +MONDO:0008048 oboInOwl:hasRelatedSynonym "myopathy, centronuclear, 1" MONDO:0008048 oboInOwl:hasRelatedSynonym "CNM1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008048 oboInOwl:hasRelatedSynonym "myopathy, centronuclear, autosomal dominant" -MONDO:0008048 oboInOwl:hasRelatedSynonym "myopathy, centronuclear, 1" -MONDO:0008048 oboInOwl:hasRelatedSynonym "myotubular myopathy, autosomal dominant" +MONDO:0008048 oboInOwl:hasRelatedSynonym "DNM2-related centronuclear myopathy" MONDO:0010914 oboInOwl:hasRelatedSynonym "Carnitine Palmitoyltransferase 2 deficiency, infantile" MONDO:0010914 oboInOwl:hasRelatedSynonym "Cpt2 deficiency, infantile" MONDO:0010914 oboInOwl:hasRelatedSynonym "Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular" @@ -50342,6 +50352,7 @@ MONDO:0018071 oboInOwl:hasRelatedSynonym "18 trisomy" MONDO:0018071 oboInOwl:hasRelatedSynonym "chromosome 18 trisomy" MONDO:0018071 oboInOwl:hasRelatedSynonym "trisomy E (formerly)" MONDO:0013585 oboInOwl:hasRelatedSynonym "HLS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0100096 oboInOwl:hasRelatedSynonym "beta-CoVs" MONDO:0100096 oboInOwl:hasRelatedSynonym "2019 novel coronavirus" MONDO:0100096 oboInOwl:hasRelatedSynonym "β-CoV" MONDO:0100096 oboInOwl:hasRelatedSynonym "beta-CoV" @@ -50352,7 +50363,6 @@ MONDO:0100096 oboInOwl:hasRelatedSynonym "betacoronavirus" MONDO:0100096 oboInOwl:hasRelatedSynonym "β-coronavirus" MONDO:0100096 oboInOwl:hasRelatedSynonym "severe acute respiratory syndrome coronavirus 2" MONDO:0100096 oboInOwl:hasRelatedSynonym "SARS-coronavirus 2" -MONDO:0100096 oboInOwl:hasRelatedSynonym "beta-CoVs" MONDO:0015243 oboInOwl:hasRelatedSynonym "allergic bronchopulmonary aspergillosis, familial" MONDO:0015243 oboInOwl:hasRelatedSynonym "aspergillosis, allergic bronchopulmonary" MONDO:0015243 oboInOwl:hasRelatedSynonym "allergic bronchopulmonary mycosis" @@ -50485,11 +50495,11 @@ MONDO:0011824 oboInOwl:hasRelatedSynonym "AUTS2" http://purl.obolibrary.org/obo/ MONDO:0011824 oboInOwl:hasRelatedSynonym "AUTS2, formerly" MONDO:0015235 oboInOwl:hasRelatedSynonym "arachnodactyly - intellectual disability - dysmorphism" MONDO:0012396 oboInOwl:hasRelatedSynonym "hyperinsulinemic hypoglycemia exercise-induced" +MONDO:0012396 oboInOwl:hasRelatedSynonym "hyperinsulinemic hypoglycemia, exercise-induced" MONDO:0012396 oboInOwl:hasRelatedSynonym "exercise induced hyperinsulinemic hypoglycemia" -MONDO:0012396 oboInOwl:hasRelatedSynonym "hyperinsulinemic hypoglycemia, familial, 7" MONDO:0012396 oboInOwl:hasRelatedSynonym "hyperinsulinemic hypoglycemia familial 7" +MONDO:0012396 oboInOwl:hasRelatedSynonym "hyperinsulinemic hypoglycemia, familial, 7" MONDO:0012396 oboInOwl:hasRelatedSynonym "HHF7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012396 oboInOwl:hasRelatedSynonym "hyperinsulinemic hypoglycemia, exercise-induced" MONDO:0009549 oboInOwl:hasRelatedSynonym "macular dystrophy with flecks, type 1" MONDO:0009549 oboInOwl:hasRelatedSynonym "Stgd" MONDO:0009549 oboInOwl:hasRelatedSynonym "macular Degeneration, juvenile" @@ -50722,10 +50732,10 @@ MONDO:0019904 oboInOwl:hasRelatedSynonym "R3" http://purl.obolibrary.org/obo/mon MONDO:0019904 oboInOwl:hasRelatedSynonym "Ring chromosome 3 syndrome" MONDO:0019904 oboInOwl:hasRelatedSynonym "chromosome 3 ring" MONDO:0010161 oboInOwl:hasRelatedSynonym "tyrosinemia, type 1" -MONDO:0010161 oboInOwl:hasRelatedSynonym "TYRSN1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010161 oboInOwl:hasRelatedSynonym "Fah deficiency" MONDO:0010161 oboInOwl:hasRelatedSynonym "tyrosinemia, type I" MONDO:0010161 oboInOwl:hasRelatedSynonym "tyrosinemia type 1" -MONDO:0010161 oboInOwl:hasRelatedSynonym "Fah deficiency" +MONDO:0010161 oboInOwl:hasRelatedSynonym "TYRSN1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0051726 oboInOwl:hasRelatedSynonym "cell cycle regulator" GO:0051726 oboInOwl:hasRelatedSynonym "tumor suppressor" MONDO:0023567 oboInOwl:hasRelatedSynonym "unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus" @@ -50770,8 +50780,8 @@ MONDO:0005210 oboInOwl:hasRelatedSynonym "sarcoma of the uterus" MONDO:0010907 oboInOwl:hasRelatedSynonym "hypertryptophanemia, familial" MONDO:0010907 oboInOwl:hasRelatedSynonym "HYPTRP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008695 oboInOwl:hasRelatedSynonym "acanthocytosis with neurologic disorder" -MONDO:0008695 oboInOwl:hasRelatedSynonym "CHOREOACANTHOCYTOSIS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008695 oboInOwl:hasRelatedSynonym "neuroacanthocytosis" +MONDO:0008695 oboInOwl:hasRelatedSynonym "CHOREOACANTHOCYTOSIS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008695 oboInOwl:hasRelatedSynonym "choreaacanthocytosis" MONDO:0008695 oboInOwl:hasRelatedSynonym "chorea acanthocytosis" MONDO:0054728 oboInOwl:hasRelatedSynonym "SPGF24" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -50781,12 +50791,12 @@ MONDO:0032707 oboInOwl:hasRelatedSynonym "Neurocardioskeletal Syndrome" MONDO:0014324 oboInOwl:hasRelatedSynonym "PC3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003579 oboInOwl:hasRelatedSynonym "nerve fibre bundle defect" MONDO:0008703 oboInOwl:hasRelatedSynonym "achondrogenesis, Brazilian" +MONDO:0008703 oboInOwl:hasRelatedSynonym "AMDG" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008703 oboInOwl:hasRelatedSynonym "achondrogenesis, type II, formerly" MONDO:0008703 oboInOwl:hasRelatedSynonym "Grebe syndrome" -MONDO:0008703 oboInOwl:hasRelatedSynonym "achondrogenesis, type II" MONDO:0008703 oboInOwl:hasRelatedSynonym "achondrogenesis type II (formerly)" -MONDO:0008703 oboInOwl:hasRelatedSynonym "AMDG" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008703 oboInOwl:hasRelatedSynonym "achondrogenesis, type II" MONDO:0008703 oboInOwl:hasRelatedSynonym "Brazilian achondrogenesis" -MONDO:0008703 oboInOwl:hasRelatedSynonym "achondrogenesis, type II, formerly" MONDO:0020779 oboInOwl:hasRelatedSynonym "abnormal development of cartilage" MONDO:0020779 oboInOwl:hasRelatedSynonym "Congenital anomaly of cartilage" MONDO:0011151 oboInOwl:hasRelatedSynonym "EVR4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -50823,10 +50833,10 @@ MONDO:0023286 oboInOwl:hasRelatedSynonym "graphite lung disease" MONDO:0019202 oboInOwl:hasRelatedSynonym "MFS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008287 oboInOwl:hasRelatedSynonym "polysyndactyly with peculiar skull Shape" MONDO:0008287 oboInOwl:hasRelatedSynonym "Greig syndrome" -MONDO:0018352 oboInOwl:hasRelatedSynonym "PSCC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011636 oboInOwl:hasRelatedSynonym "DBA2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011636 oboInOwl:hasRelatedSynonym "anemia Diamond-Blackfan 2" MONDO:0011636 oboInOwl:hasRelatedSynonym "Diamond-Blackfan Anemia, 2" +MONDO:0018352 oboInOwl:hasRelatedSynonym "PSCC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008170 oboInOwl:hasRelatedSynonym "ovarian cancer, epithelial" MONDO:0008170 oboInOwl:hasRelatedSynonym "primary ovarian cancer" MONDO:0007309 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A" @@ -50965,12 +50975,12 @@ MONDO:0014576 oboInOwl:hasRelatedSynonym "LIPT1D" http://purl.obolibrary.org/obo MONDO:0011236 oboInOwl:hasRelatedSynonym "HHF3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011236 oboInOwl:hasRelatedSynonym "hyperinsulinemic hypoglycemia familial 3" MONDO:0011236 oboInOwl:hasRelatedSynonym "hyperinsulinemic hypoglycemia, familial, 3" +MONDO:0011628 oboInOwl:hasRelatedSynonym "PCC deficiency" MONDO:0011628 oboInOwl:hasRelatedSynonym "propionyl-Coa carboxylase deficiency" -MONDO:0011628 oboInOwl:hasRelatedSynonym "Propionicacidemia" -MONDO:0011628 oboInOwl:hasRelatedSynonym "prop" -MONDO:0011628 oboInOwl:hasRelatedSynonym "Glycinemia, ketotic" MONDO:0011628 oboInOwl:hasRelatedSynonym "hyperglycinemia with ketoacidosis and leukopenia" -MONDO:0011628 oboInOwl:hasRelatedSynonym "PCC deficiency" +MONDO:0011628 oboInOwl:hasRelatedSynonym "Glycinemia, ketotic" +MONDO:0011628 oboInOwl:hasRelatedSynonym "prop" +MONDO:0011628 oboInOwl:hasRelatedSynonym "Propionicacidemia" MONDO:0015641 oboInOwl:hasRelatedSynonym "benign infantile focal epilepsy with midline spikes and waves during sleep" NCBITaxon:34353 oboInOwl:hasRelatedSynonym "anamorphic Dipodascaceae" http://purl.obolibrary.org/obo/ncbitaxon#synonym MONDO:0009221 oboInOwl:hasRelatedSynonym "Ffu syndrome" @@ -51083,13 +51093,13 @@ NCBITaxon:1491 oboInOwl:hasRelatedSynonym "Bacillus putrificus" http://purl.obol NCBITaxon:1491 oboInOwl:hasRelatedSynonym "Ermengemillus botulinus" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:1491 oboInOwl:hasRelatedSynonym "Clostridium putrificum" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:1491 oboInOwl:hasRelatedSynonym "Bacillus botulinus" http://purl.obolibrary.org/obo/ncbitaxon#synonym -MONDO:0019365 oboInOwl:hasRelatedSynonym "chigger-borne rickettsiosis" MONDO:0019365 oboInOwl:hasRelatedSynonym "chigger-borne typhus" -MONDO:0019365 oboInOwl:hasRelatedSynonym "typhus fever due to Rickettsia tsutsugamushi" -MONDO:0019365 oboInOwl:hasRelatedSynonym "Mite-borne rickettsiosis" MONDO:0019365 oboInOwl:hasRelatedSynonym "tropical typhus" MONDO:0019365 oboInOwl:hasRelatedSynonym "Mite-borne typhus" MONDO:0019365 oboInOwl:hasRelatedSynonym "scrub (mite-borne) typhus" +MONDO:0019365 oboInOwl:hasRelatedSynonym "chigger-borne rickettsiosis" +MONDO:0019365 oboInOwl:hasRelatedSynonym "typhus fever due to Rickettsia tsutsugamushi" +MONDO:0019365 oboInOwl:hasRelatedSynonym "Mite-borne rickettsiosis" MONDO:0000332 oboInOwl:hasRelatedSynonym "Human Ehrlichial infection, sennetsu type" MONDO:0006235 oboInOwl:hasRelatedSynonym "Abrikosoff's tumor" MONDO:0006235 oboInOwl:hasRelatedSynonym "Abrikosoff's granulous cell tumor" @@ -51255,8 +51265,8 @@ MONDO:0008702 oboInOwl:hasRelatedSynonym "achondrogenesis type 2" MONDO:0008702 oboInOwl:hasRelatedSynonym "ACG2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008702 oboInOwl:hasRelatedSynonym "achondrogenesis, type II" MONDO:0008702 oboInOwl:hasRelatedSynonym "achondrogenesis, type 2" -MONDO:0026723 oboInOwl:hasRelatedSynonym "Mental Retardation, X-Linked 108" MONDO:0026723 oboInOwl:hasRelatedSynonym "MRX108" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0026723 oboInOwl:hasRelatedSynonym "Mental Retardation, X-Linked 108" MONDO:0026723 oboInOwl:hasRelatedSynonym "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108" MONDO:0019060 oboInOwl:hasRelatedSynonym "primary bone cancer" MONDO:0019060 oboInOwl:hasRelatedSynonym "primary malignant neoplasm of bone" @@ -51316,10 +51326,10 @@ MONDO:0009770 oboInOwl:hasRelatedSynonym "oculopalatoskeletal syndrome" MONDO:0054729 oboInOwl:hasRelatedSynonym "SPGF25" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014325 oboInOwl:hasRelatedSynonym "PC4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003757 oboInOwl:hasRelatedSynonym "severe or complete loss of motor function in the lower extremities and lower portions of the trunk" +NCBITaxon:1463975 oboInOwl:hasRelatedSynonym "Coniosporium corticale" http://purl.obolibrary.org/obo/ncbitaxon#synonym MONDO:0013262 oboInOwl:hasRelatedSynonym "cardiomyopathy, dilated, 1S" MONDO:0013262 oboInOwl:hasRelatedSynonym "left ventricular noncompaction 5" MONDO:0013262 oboInOwl:hasRelatedSynonym "dilated cardiomyopathy-1S" -NCBITaxon:1463975 oboInOwl:hasRelatedSynonym "Coniosporium corticale" http://purl.obolibrary.org/obo/ncbitaxon#synonym MONDO:0010876 oboInOwl:hasRelatedSynonym "aplasia cutis congenita of limbs recessive" MONDO:0010876 oboInOwl:hasRelatedSynonym "aplasia cutis congenita of limbs, autosomal recessive" MONDO:0010876 oboInOwl:hasRelatedSynonym "congenital absence of skin on the upper or lower limbs" @@ -51401,9 +51411,9 @@ MONDO:0022921 oboInOwl:hasRelatedSynonym "short stature microcephaly heart defec MONDO:0018177 oboInOwl:hasRelatedSynonym "gliosarcoma (histologic variant)" MONDO:0018177 oboInOwl:hasRelatedSynonym "giant cell glioblastoma (histologic variant)" MONDO:0008288 oboInOwl:hasRelatedSynonym "baker cyst" -GO:2000147 oboInOwl:hasRelatedSynonym "positive regulation of cell movement" MONDO:0011637 oboInOwl:hasRelatedSynonym "polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia" MONDO:0011637 oboInOwl:hasRelatedSynonym "frontonasal dysplasia and dilated Virchow-Robin spaces" +GO:2000147 oboInOwl:hasRelatedSynonym "positive regulation of cell movement" MONDO:0017797 oboInOwl:hasRelatedSynonym "rare odontogenic tumor" MONDO:0008507 oboInOwl:hasRelatedSynonym "Spa5" MONDO:0008507 oboInOwl:hasRelatedSynonym "Spa2" @@ -51812,17 +51822,17 @@ MONDO:0013098 oboInOwl:hasRelatedSynonym "hearing loss, noise-induced, susceptib MONDO:0011786 oboInOwl:hasRelatedSynonym "Alrh" MONDO:0016005 oboInOwl:hasRelatedSynonym "antenatal indomethacin exposure" MONDO:0009771 oboInOwl:hasRelatedSynonym "OTD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008119 oboInOwl:hasRelatedSynonym "olivopontocerebellar atrophy 4" +MONDO:0008119 oboInOwl:hasRelatedSynonym "spinocerebellar ataxia 1" +MONDO:0008119 oboInOwl:hasRelatedSynonym "olivopontocerebellar atrophy 1" +MONDO:0008119 oboInOwl:hasRelatedSynonym "OPCA 1" MONDO:0008119 oboInOwl:hasRelatedSynonym "Menzel type OPCA" -MONDO:0008119 oboInOwl:hasRelatedSynonym "OPCA4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008119 oboInOwl:hasRelatedSynonym "olivopontocerebellar atrophy 4" +MONDO:0008119 oboInOwl:hasRelatedSynonym "spinocerebellar atrophy 1" +MONDO:0008119 oboInOwl:hasRelatedSynonym "OPCA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008119 oboInOwl:hasRelatedSynonym "OPCA 4" MONDO:0008119 oboInOwl:hasRelatedSynonym "Schut-haymaker type OPCA" -MONDO:0008119 oboInOwl:hasRelatedSynonym "OPCA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008119 oboInOwl:hasRelatedSynonym "spinocerebellar atrophy 1" +MONDO:0008119 oboInOwl:hasRelatedSynonym "OPCA4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008119 oboInOwl:hasRelatedSynonym "cerebelloparenchymal disorder 1" -MONDO:0008119 oboInOwl:hasRelatedSynonym "spinocerebellar ataxia 1" -MONDO:0008119 oboInOwl:hasRelatedSynonym "olivopontocerebellar atrophy 1" -MONDO:0008119 oboInOwl:hasRelatedSynonym "OPCA 1" MONDO:0012368 oboInOwl:hasRelatedSynonym "ACY1 deficiency" MONDO:0012368 oboInOwl:hasRelatedSynonym "deficiency of the aminoacylase-1 enzyme" CHEBI:22563 oboInOwl:hasRelatedSynonym "anions" @@ -51892,9 +51902,9 @@ MONDO:0007937 oboInOwl:hasRelatedSynonym "magnesium loss, isolated renal" MONDO:0007937 oboInOwl:hasRelatedSynonym "hypomagnesemia 2, renal" MONDO:0007937 oboInOwl:hasRelatedSynonym "autosomal dominant primary hypomagnesemia with hypocalciuria" MONDO:0007937 oboInOwl:hasRelatedSynonym "magnesium wasting, renal" -MONDO:0026724 oboInOwl:hasRelatedSynonym "PAGANINI-MIOZZO SYNDROME" -MONDO:0026724 oboInOwl:hasRelatedSynonym "Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type" MONDO:0026724 oboInOwl:hasRelatedSynonym "MRXSPM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0026724 oboInOwl:hasRelatedSynonym "Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type" +MONDO:0026724 oboInOwl:hasRelatedSynonym "PAGANINI-MIOZZO SYNDROME" MONDO:0012776 oboInOwl:hasRelatedSynonym "gluten-sensitive enteropathy, susceptibility to, 7" MONDO:0016396 oboInOwl:hasRelatedSynonym "mental retardation, autosomal recessive 32" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010879 oboInOwl:hasRelatedSynonym "cerebral, ocular, dental, auricular, and skeletal syndrome" @@ -52060,13 +52070,13 @@ MONDO:0010226 oboInOwl:hasRelatedSynonym "SRXY2" http://purl.obolibrary.org/obo/ MONDO:0010226 oboInOwl:hasRelatedSynonym "46,XY SEX reversal 2" MONDO:0010226 oboInOwl:hasRelatedSynonym "dosage-sensitive Sex reversal" MONDO:0024620 oboInOwl:hasRelatedSynonym "polio virus meningitis" -MONDO:0012407 oboInOwl:hasRelatedSynonym "pyridoxine-5'-phosphate oxidase deficiency" MONDO:0012407 oboInOwl:hasRelatedSynonym "Pnpo deficiency" +MONDO:0012407 oboInOwl:hasRelatedSynonym "PNPOD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012407 oboInOwl:hasRelatedSynonym "epileptic encephalopathy, neonatal, Pnpo-related" MONDO:0012407 oboInOwl:hasRelatedSynonym "seizures, pyridoxine-resistant, PLP-sensitive" -MONDO:0012407 oboInOwl:hasRelatedSynonym "PNPOD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012407 oboInOwl:hasRelatedSynonym "pyridoxamine 5-prime-phosphate oxidase deficiency" +MONDO:0012407 oboInOwl:hasRelatedSynonym "pyridoxine-5'-phosphate oxidase deficiency" MONDO:0012407 oboInOwl:hasRelatedSynonym "pyridoxal 5'-phosphate-dependent epilepsy" +MONDO:0012407 oboInOwl:hasRelatedSynonym "pyridoxamine 5-prime-phosphate oxidase deficiency" MONDO:0009444 oboInOwl:hasRelatedSynonym "ichthyosis alopecia eclabion ectropion intellectual disability" MONDO:0009444 oboInOwl:hasRelatedSynonym "ichthyosis with alopecia, eclabium, ectropion, and mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0009444 oboInOwl:hasRelatedSynonym "ichthyosis with alopecia, eclabium, ectropion, and intellectual disability" @@ -52098,10 +52108,10 @@ MONDO:0021839 oboInOwl:hasRelatedSynonym "SPIROCHETE INFECT" MONDO:0021839 oboInOwl:hasRelatedSynonym "Spirochetosis" MONDO:0021839 oboInOwl:hasRelatedSynonym "Spirochaetales Infection" MONDO:0021839 oboInOwl:hasRelatedSynonym "INFECT SPIROCHETE" -MONDO:0021839 oboInOwl:hasRelatedSynonym "Spirochetal infection" MONDO:0021839 oboInOwl:hasRelatedSynonym "SPIROCHAETALES INFECT" -MONDO:0021839 oboInOwl:hasRelatedSynonym "Infections, Spirochete" +MONDO:0021839 oboInOwl:hasRelatedSynonym "Spirochetal infection" MONDO:0021839 oboInOwl:hasRelatedSynonym "INFECT SPIROCHAETALES" +MONDO:0021839 oboInOwl:hasRelatedSynonym "Infections, Spirochete" MONDO:0021839 oboInOwl:hasRelatedSynonym "Infection, Spirochaetales" MONDO:0021839 oboInOwl:hasRelatedSynonym "Spirochete Infection" MONDO:0021839 oboInOwl:hasRelatedSynonym "Infection, Spirochete" @@ -52337,10 +52347,10 @@ MONDO:0007509 oboInOwl:hasRelatedSynonym "hypohidrotic ectodermal dysplasia auto MONDO:0007509 oboInOwl:hasRelatedSynonym "ectodermal dysplasia hypohidrotic autosomal dominant" MONDO:0007509 oboInOwl:hasRelatedSynonym "ECTD10A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0031344 oboInOwl:hasRelatedSynonym "regulation of cell projection organization and biogenesis" +MONDO:0011787 oboInOwl:hasRelatedSynonym "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5" +MONDO:0011787 oboInOwl:hasRelatedSynonym "limb-girdle muscular dystrophy type 2I" MONDO:0011787 oboInOwl:hasRelatedSynonym "muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related" MONDO:0011787 oboInOwl:hasRelatedSynonym "muscular dystrophy, limb-girdle, type 2I" -MONDO:0011787 oboInOwl:hasRelatedSynonym "limb-girdle muscular dystrophy type 2I" -MONDO:0011787 oboInOwl:hasRelatedSynonym "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5" MONDO:0033566 oboInOwl:hasRelatedSynonym "COXPD48" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033566 oboInOwl:hasRelatedSynonym "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48" GO:2000064 oboInOwl:hasRelatedSynonym "regulation of cortisol anabolism" @@ -52387,13 +52397,13 @@ MONDO:0000525 oboInOwl:hasRelatedSynonym "caecum adenoma" MONDO:0003924 oboInOwl:hasRelatedSynonym "adrenal incidentaloma" MONDO:0014023 oboInOwl:hasRelatedSynonym "congenital disorder of glycosylation, type Iu" MONDO:0014023 oboInOwl:hasRelatedSynonym "CDG Iu" -MONDO:0010995 oboInOwl:hasRelatedSynonym "CMT, slow nerve conduction type C" +MONDO:0010995 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth neuropathy, type 1C" MONDO:0010995 oboInOwl:hasRelatedSynonym "Charcot Marie Tooth disease type 1C" -MONDO:0010995 oboInOwl:hasRelatedSynonym "neuropathy, hereditary motor and sensory, type 1C" +MONDO:0010995 oboInOwl:hasRelatedSynonym "CMT 1C" MONDO:0010995 oboInOwl:hasRelatedSynonym "HMSN 1C" MONDO:0010995 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth disease, demyelinating, type 1C" -MONDO:0010995 oboInOwl:hasRelatedSynonym "CMT 1C" -MONDO:0010995 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth neuropathy, type 1C" +MONDO:0010995 oboInOwl:hasRelatedSynonym "neuropathy, hereditary motor and sensory, type 1C" +MONDO:0010995 oboInOwl:hasRelatedSynonym "CMT, slow nerve conduction type C" NCBITaxon:6033 oboInOwl:hasRelatedSynonym "Septata" http://purl.obolibrary.org/obo/ncbitaxon#synonym MONDO:0025371 oboInOwl:hasRelatedSynonym "infections, Parvovirus" MONDO:0025371 oboInOwl:hasRelatedSynonym "Parvovirus infections" @@ -52534,11 +52544,11 @@ MONDO:0005853 oboInOwl:hasRelatedSynonym "malignant mixed tumors" MONDO:0005853 oboInOwl:hasRelatedSynonym "mixed neoplasm" MONDO:0005853 oboInOwl:hasRelatedSynonym "tumor, malignant mixed" MONDO:0005853 oboInOwl:hasRelatedSynonym "mixed cell type cancer" -MONDO:0012721 oboInOwl:hasRelatedSynonym "EPM 3" MONDO:0012721 oboInOwl:hasRelatedSynonym "epilepsy progressive myoclonic type 3" -MONDO:0012721 oboInOwl:hasRelatedSynonym "progressive myoclonic epilepsy 3" MONDO:0012721 oboInOwl:hasRelatedSynonym "epilepsy, progressive myoclonic, 3, with or without intracellular inclusions" +MONDO:0012721 oboInOwl:hasRelatedSynonym "EPM 3" MONDO:0012721 oboInOwl:hasRelatedSynonym "ceroid lipofuscinosis, neuronal, 14" +MONDO:0012721 oboInOwl:hasRelatedSynonym "progressive myoclonic epilepsy 3" MONDO:0008433 oboInOwl:hasRelatedSynonym "SCLC1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008433 oboInOwl:hasRelatedSynonym "small cell cancer of the lung" MONDO:0012096 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L" @@ -52600,8 +52610,8 @@ MONDO:0032869 oboInOwl:hasRelatedSynonym "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) MONDO:0009165 oboInOwl:hasRelatedSynonym "Cree encephalitis" MONDO:0009165 oboInOwl:hasRelatedSynonym "AGS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009165 oboInOwl:hasRelatedSynonym "Aicardi-Goutieres syndrome 1, autosomal dominant" -MONDO:0009165 oboInOwl:hasRelatedSynonym "encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis" MONDO:0009165 oboInOwl:hasRelatedSynonym "Pseudotoxoplasmosis syndrome" +MONDO:0009165 oboInOwl:hasRelatedSynonym "encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis" MONDO:0009165 oboInOwl:hasRelatedSynonym "Ags" CL:1001581 oboInOwl:hasRelatedSynonym "lateral ventricle glial cells" MONDO:0007602 oboInOwl:hasRelatedSynonym "moved to {300908}" @@ -52866,8 +52876,8 @@ CL:1001590 oboInOwl:hasRelatedSynonym "epididymis glandular cells" CHEBI:18237 oboInOwl:hasRelatedSynonym "Glutaminic acid" CHEBI:18237 oboInOwl:hasRelatedSynonym "2-Aminoglutaric acid" CHEBI:18237 oboInOwl:hasRelatedSynonym "Glutaminsaeure" -CHEBI:18237 oboInOwl:hasRelatedSynonym "Glu" CHEBI:18237 oboInOwl:hasRelatedSynonym "Glutamate" +CHEBI:18237 oboInOwl:hasRelatedSynonym "Glu" CHEBI:18237 oboInOwl:hasRelatedSynonym "DL-Glutaminic acid" CHEBI:18237 oboInOwl:hasRelatedSynonym "DL-Glutamic acid" CHEBI:18237 oboInOwl:hasRelatedSynonym "E" @@ -52917,8 +52927,8 @@ MONDO:0009623 oboInOwl:hasRelatedSynonym "microcephaly with normal intelligence, MONDO:0009623 oboInOwl:hasRelatedSynonym "Nonsyndromal microcephaly, autosomal recessive, with normal intelligence" MONDO:0044270 oboInOwl:hasRelatedSynonym "bilirubin, serum level OF, quantitative trait locus 1" MONDO:0044270 oboInOwl:hasRelatedSynonym "BILIQTL1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024505 oboInOwl:hasRelatedSynonym "disorder of anatomical" MONDO:0024505 oboInOwl:hasRelatedSynonym "disease by body site" +MONDO:0024505 oboInOwl:hasRelatedSynonym "disorder of anatomical" MONDO:0024505 oboInOwl:hasRelatedSynonym "disorder by body site" MONDO:0024505 oboInOwl:hasRelatedSynonym "disease of organism subdivision" MONDO:0024505 oboInOwl:hasRelatedSynonym "disorder of organism subdivision" @@ -52930,10 +52940,10 @@ GO:0007155 oboInOwl:hasRelatedSynonym "single organism cell adhesion" GO:0007155 oboInOwl:hasRelatedSynonym "cell adhesion molecule activity" NCBITaxon:33833 oboInOwl:hasRelatedSynonym "Vestibulifera" http://purl.obolibrary.org/obo/ncbitaxon#synonym MONDO:0016604 oboInOwl:hasRelatedSynonym "dysraphism, cleft lip/palate, limb reduction defects" -MONDO:0013704 oboInOwl:hasRelatedSynonym "mental retardation, autosomal recessive 30" http://purl.obolibrary.org/obo/mondo#DEPRECATED CHEBI:24870 oboInOwl:hasRelatedSynonym "ions" CHEBI:24870 oboInOwl:hasRelatedSynonym "iones" CHEBI:24870 oboInOwl:hasRelatedSynonym "Ionen" +MONDO:0013704 oboInOwl:hasRelatedSynonym "mental retardation, autosomal recessive 30" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0007237 oboInOwl:hasRelatedSynonym "gigantomastia, juvenile" MONDO:0007237 oboInOwl:hasRelatedSynonym "hypertrophy of the breast, juvenile" MONDO:0007237 oboInOwl:hasRelatedSynonym "JHB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -53030,11 +53040,11 @@ MONDO:0011281 oboInOwl:hasRelatedSynonym "endplate acetylcholinesterase deficien MONDO:0011281 oboInOwl:hasRelatedSynonym "Cms Ic, formerly" MONDO:0011281 oboInOwl:hasRelatedSynonym "myasthenic syndrome, congenital, Engel type" MONDO:0011281 oboInOwl:hasRelatedSynonym "congenital myasthenic syndrome type Ic, formerly" -MONDO:0008434 oboInOwl:hasRelatedSynonym "Smith-Magenis syndrome chromosome region" -MONDO:0008434 oboInOwl:hasRelatedSynonym "chromosome 17P11.2 deletion syndrome" -MONDO:0008434 oboInOwl:hasRelatedSynonym "SMITH-Magenis syndrome" MONDO:0008434 oboInOwl:hasRelatedSynonym "Smith-Magenis chromosome region" MONDO:0008434 oboInOwl:hasRelatedSynonym "SMS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008434 oboInOwl:hasRelatedSynonym "chromosome 17P11.2 deletion syndrome" +MONDO:0008434 oboInOwl:hasRelatedSynonym "Smith-Magenis syndrome chromosome region" +MONDO:0008434 oboInOwl:hasRelatedSynonym "SMITH-Magenis syndrome" MONDO:0012097 oboInOwl:hasRelatedSynonym "SCDO2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012097 oboInOwl:hasRelatedSynonym "spondylocostal dysostosis 2" MONDO:0011125 oboInOwl:hasRelatedSynonym "TTD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -53204,20 +53214,16 @@ NCBITaxon:122378 oboInOwl:hasRelatedSynonym "Penaeus (Litopenaeus) schmitti" htt GO:2000066 oboInOwl:hasRelatedSynonym "positive regulation of cortisol anabolism" MONDO:0008593 oboInOwl:hasRelatedSynonym "eyelashes, long" MONDO:0008593 oboInOwl:hasRelatedSynonym "TCMGLY" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0004173 oboInOwl:hasRelatedSynonym "Skene gland carcinoma" MONDO:0007396 oboInOwl:hasRelatedSynonym "dysostosis Stanescu type" MONDO:0007396 oboInOwl:hasRelatedSynonym "craniofacial dysostosis with diaphyseal hyperplasia" MONDO:0007396 oboInOwl:hasRelatedSynonym "osteosclerosis, Stanescu type" +MONDO:0004173 oboInOwl:hasRelatedSynonym "Skene gland carcinoma" MONDO:0013031 oboInOwl:hasRelatedSynonym "periventricular nodular heterotopia 5" MONDO:0013031 oboInOwl:hasRelatedSynonym "heterotopia, periventricular, associated with chromosome 5Q deletion" MONDO:0007572 oboInOwl:hasRelatedSynonym "polycythemia, primary familial and congenital" -MONDO:0007572 oboInOwl:hasRelatedSynonym "erythrocytosis, familial, 1" MONDO:0007572 oboInOwl:hasRelatedSynonym "primary familial polycythemia" -MONDO:0007572 oboInOwl:hasRelatedSynonym "erythrocytosis familial, 1" -MONDO:0007572 oboInOwl:hasRelatedSynonym "familial erythrocytosis, 1" MONDO:0007572 oboInOwl:hasRelatedSynonym "erythrocytosis autosomal dominant benign" MONDO:0007572 oboInOwl:hasRelatedSynonym "erythrocytosis, autosomal dominant benign" -MONDO:0007572 oboInOwl:hasRelatedSynonym "familial erythrocytosis 1" MONDO:0007572 oboInOwl:hasRelatedSynonym "ECYT1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007572 oboInOwl:hasRelatedSynonym "autosomal dominant benign erythrocytosis" MONDO:0024245 oboInOwl:hasRelatedSynonym "hidradenocarcinoma" @@ -53278,13 +53284,13 @@ MONDO:0014025 oboInOwl:hasRelatedSynonym "SMAJ" http://purl.obolibrary.org/obo/m MONDO:0010997 oboInOwl:hasRelatedSynonym "PSNP1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016008 oboInOwl:hasRelatedSynonym "phenytoin embryopathy" MONDO:0016008 oboInOwl:hasRelatedSynonym "Dilantin embryopathy" -MONDO:0009774 oboInOwl:hasRelatedSynonym "omphalocele - cloacal exstrophy - imperforate anus - spinal defect" -MONDO:0009774 oboInOwl:hasRelatedSynonym "omphalocele-exstrophy-imperforate anus-spinal defects" +MONDO:0009774 oboInOwl:hasRelatedSynonym "OEIS syndrome" MONDO:0009774 oboInOwl:hasRelatedSynonym "OEIS complex" +MONDO:0009774 oboInOwl:hasRelatedSynonym "omphalocele-exstrophy-imperforate anus-spinal defects" MONDO:0009774 oboInOwl:hasRelatedSynonym "cloacal exstrophy sequence" -MONDO:0009774 oboInOwl:hasRelatedSynonym "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects" MONDO:0009774 oboInOwl:hasRelatedSynonym "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex" -MONDO:0009774 oboInOwl:hasRelatedSynonym "OEIS syndrome" +MONDO:0009774 oboInOwl:hasRelatedSynonym "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects" +MONDO:0009774 oboInOwl:hasRelatedSynonym "omphalocele - cloacal exstrophy - imperforate anus - spinal defect" MONDO:0008404 oboInOwl:hasRelatedSynonym "SENS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008404 oboInOwl:hasRelatedSynonym "Sen syndrome" MONDO:0008404 oboInOwl:hasRelatedSynonym "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples" @@ -53298,11 +53304,11 @@ MONDO:0007207 oboInOwl:hasRelatedSynonym "PHC syndrome" MONDO:0010082 oboInOwl:hasRelatedSynonym "subaortic stenosis short stature syndrome" MONDO:0010082 oboInOwl:hasRelatedSynonym "subaortic stenosis--short stature syndrome" MONDO:0008372 oboInOwl:hasRelatedSynonym "amaurosis congenita" -MONDO:0008708 oboInOwl:hasRelatedSynonym "acrocallosal syndrome, Schinzel type" -MONDO:0008708 oboInOwl:hasRelatedSynonym "absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly" -MONDO:0008708 oboInOwl:hasRelatedSynonym "hallux Duplication, postaxial polydactyly, and absence of corpus callosum" MONDO:0008708 oboInOwl:hasRelatedSynonym "Joubert syndrome 12" MONDO:0008708 oboInOwl:hasRelatedSynonym "Joubert syndrome 12/15, digenic" +MONDO:0008708 oboInOwl:hasRelatedSynonym "hallux Duplication, postaxial polydactyly, and absence of corpus callosum" +MONDO:0008708 oboInOwl:hasRelatedSynonym "acrocallosal syndrome, Schinzel type" +MONDO:0008708 oboInOwl:hasRelatedSynonym "absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly" MONDO:0017881 oboInOwl:hasRelatedSynonym "KFD virus" MONDO:0017881 oboInOwl:hasRelatedSynonym "KFD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019501 oboInOwl:hasRelatedSynonym "Hallgren syndrome" @@ -53417,7 +53423,6 @@ MONDO:0007238 oboInOwl:hasRelatedSynonym "complete absence of breasts" MONDO:0007238 oboInOwl:hasRelatedSynonym "absent breasts and nipples" MONDO:0007238 oboInOwl:hasRelatedSynonym "amazia" MONDO:0007238 oboInOwl:hasRelatedSynonym "athelia" -MONDO:0007238 oboInOwl:hasRelatedSynonym "BNAH1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007238 oboInOwl:hasRelatedSynonym "breasts and/or nipples, aplasia or hypoplasia of, 1" MONDO:0019324 oboInOwl:hasRelatedSynonym "PF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:76895 oboInOwl:hasRelatedSynonym "acid anhydride hydrolase catalysing transmembrane movement of substances (EC 3.6.3.*) inhibitors" @@ -53799,10 +53804,10 @@ MONDO:0013032 oboInOwl:hasRelatedSynonym "EIG8" http://purl.obolibrary.org/obo/m MONDO:0011720 oboInOwl:hasRelatedSynonym "SPGF3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0022067 oboInOwl:hasRelatedSynonym "severe mental deficiency, proportionate dwarfism, and delayed sexual maturation" MONDO:0022067 oboInOwl:hasRelatedSynonym "severe mental deficiency proportionate dwarfism and delayed sexual maturation" -MONDO:0000914 oboInOwl:hasRelatedSynonym "familial vascular leukoencephalopathy" MONDO:0000914 oboInOwl:hasRelatedSynonym "CASIL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000914 oboInOwl:hasRelatedSynonym "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy" MONDO:0000914 oboInOwl:hasRelatedSynonym "CADASIL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0000914 oboInOwl:hasRelatedSynonym "familial vascular leukoencephalopathy" MONDO:0020479 oboInOwl:hasRelatedSynonym "gigantism" MONDO:0025167 oboInOwl:hasRelatedSynonym "Reticuloendothelioses, Avian" MONDO:0025167 oboInOwl:hasRelatedSynonym "Avian reticuloendotheliosis" @@ -53834,11 +53839,11 @@ MONDO:0021747 oboInOwl:hasRelatedSynonym "infection caused by Acanthamoeba" MONDO:0021747 oboInOwl:hasRelatedSynonym "acanthamoebosis" MONDO:0021747 oboInOwl:hasRelatedSynonym "acanthamoebiasis" MONDO:0021747 oboInOwl:hasRelatedSynonym "infections, Acanthamoeba" -MONDO:0011890 oboInOwl:hasRelatedSynonym "Charcot Marie Tooth disease type 1D" -MONDO:0011890 oboInOwl:hasRelatedSynonym "CMT 1D" MONDO:0011890 oboInOwl:hasRelatedSynonym "HMSN 1D" -MONDO:0011890 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth neuropathy, type 1D" +MONDO:0011890 oboInOwl:hasRelatedSynonym "CMT 1D" MONDO:0011890 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth disease, demyelinating, type 1D" +MONDO:0011890 oboInOwl:hasRelatedSynonym "Charcot Marie Tooth disease type 1D" +MONDO:0011890 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth neuropathy, type 1D" MONDO:0015772 oboInOwl:hasRelatedSynonym "chromosome 8q duplication" MONDO:0015772 oboInOwl:hasRelatedSynonym "8q trisomy" MONDO:0015772 oboInOwl:hasRelatedSynonym "8q duplication" @@ -53852,8 +53857,8 @@ MONDO:0007599 oboInOwl:hasRelatedSynonym "familial multiple coagulation Factor d MONDO:0007599 oboInOwl:hasRelatedSynonym "multiple coagulation Factor deficiency 6" MONDO:0007599 oboInOwl:hasRelatedSynonym "factor IX and factor XI, combined deficiency OF" MONDO:0014026 oboInOwl:hasRelatedSynonym "night blindness, congenital stationary, type 1F" -MONDO:0032798 oboInOwl:hasRelatedSynonym "IKSHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032798 oboInOwl:hasRelatedSynonym "ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES" +MONDO:0032798 oboInOwl:hasRelatedSynonym "IKSHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012710 oboInOwl:hasRelatedSynonym "Hirschsprung disease, susceptibility to, 9" MONDO:0009625 oboInOwl:hasRelatedSynonym "MISSBC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009625 oboInOwl:hasRelatedSynonym "recessive microcephaly with spastic quadriplegia" @@ -54077,9 +54082,9 @@ MONDO:0010293 oboInOwl:hasRelatedSynonym "Xhm-Ed" MONDO:0010293 oboInOwl:hasRelatedSynonym "ectodermal dysplasia, hypohidrotic, with immune deficiency" MONDO:0010293 oboInOwl:hasRelatedSynonym "hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia" MONDO:0010293 oboInOwl:hasRelatedSynonym "ectodermal dysplasia, anhidrotic, with immune deficiency" +MONDO:0012789 oboInOwl:hasRelatedSynonym "Young-onset dystonia-(parkinsonism)" MONDO:0014152 oboInOwl:hasRelatedSynonym "LVNC8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014152 oboInOwl:hasRelatedSynonym "cardiomyopathy, dilated, 1Ll" -MONDO:0012789 oboInOwl:hasRelatedSynonym "Young-onset dystonia-(parkinsonism)" HP:0000828 oboInOwl:hasRelatedSynonym "Parathyroid disease" MONDO:0013735 oboInOwl:hasRelatedSynonym "MCHCCD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013735 oboInOwl:hasRelatedSynonym "microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome" @@ -54138,12 +54143,6 @@ NCBITaxon:727 oboInOwl:hasRelatedSynonym "Bacterium influenzae" http://purl.obol NCBITaxon:727 oboInOwl:hasRelatedSynonym "Coccobacillus pfeifferi" http://purl.obolibrary.org/obo/ncbitaxon#synonym MONDO:0012685 oboInOwl:hasRelatedSynonym "bipolar affective disorder" MONDO:0012685 oboInOwl:hasRelatedSynonym "MAJOR affective disorder 5" -MONDO:0016962 oboInOwl:hasRelatedSynonym "Duplication 11q" -MONDO:0016962 oboInOwl:hasRelatedSynonym "11q duplication" -MONDO:0016962 oboInOwl:hasRelatedSynonym "chromosome 11q duplication" -MONDO:0016962 oboInOwl:hasRelatedSynonym "trisomy 11q" -MONDO:0016962 oboInOwl:hasRelatedSynonym "partial trisomy 11q" -MONDO:0016962 oboInOwl:hasRelatedSynonym "11q trisomy" MONDO:0015742 oboInOwl:hasRelatedSynonym "PVL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009018 oboInOwl:hasRelatedSynonym "corneal dystrophy, central type" MONDO:0013737 oboInOwl:hasRelatedSynonym "spastic paraplegia 46, autosomal recessive" @@ -54247,6 +54246,7 @@ MONDO:0007209 oboInOwl:hasRelatedSynonym "bowing of legs, anterior, with dwarfis MONDO:0007209 oboInOwl:hasRelatedSynonym "bowing of legs, anterior with dwarfism" MONDO:0007209 oboInOwl:hasRelatedSynonym "Weismann Netter syndrome" MONDO:0007209 oboInOwl:hasRelatedSynonym "WEISMANN-NETTER syndrome" +MONDO:0021651 oboInOwl:hasRelatedSynonym "SPD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009112 oboInOwl:hasRelatedSynonym "RCDP2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009112 oboInOwl:hasRelatedSynonym "chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate" MONDO:0010389 oboInOwl:hasRelatedSynonym "IMD34" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -54281,13 +54281,13 @@ CHEBI:29202 oboInOwl:hasRelatedSynonym "isozyansaeure" CHEBI:29202 oboInOwl:hasRelatedSynonym "methenamide" CHEBI:29202 oboInOwl:hasRelatedSynonym "HN=C=O" CHEBI:29202 oboInOwl:hasRelatedSynonym "isocyansaeure" -CHEBI:29202 oboInOwl:hasRelatedSynonym "HNCO" CHEBI:29202 oboInOwl:hasRelatedSynonym "oxidoazanediidocarbon" +CHEBI:29202 oboInOwl:hasRelatedSynonym "HNCO" MONDO:0013033 oboInOwl:hasRelatedSynonym "CPSQ2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011721 oboInOwl:hasRelatedSynonym "myopathy, distal, with anterior tibial onset" MONDO:0011721 oboInOwl:hasRelatedSynonym "DMAT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013790 oboInOwl:hasRelatedSynonym "MRMV2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000256 oboInOwl:hasRelatedSynonym "systemic fungal infection" +MONDO:0013790 oboInOwl:hasRelatedSynonym "MRMV2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012138 oboInOwl:hasRelatedSynonym "muscular dystrophy, congenital, type 1D" MONDO:0012138 oboInOwl:hasRelatedSynonym "muscular dystrophy, congenital, large-related" CHEBI:16646 oboInOwl:hasRelatedSynonym "saccharidum" @@ -54382,8 +54382,8 @@ CHEBI:15765 oboInOwl:hasRelatedSynonym "beta-(3,4-dihydroxyphenyl)-L-alanine" CHEBI:15765 oboInOwl:hasRelatedSynonym "3,4-DIHYDROXYPHENYLALANINE" CHEBI:15765 oboInOwl:hasRelatedSynonym "levodopum" CHEBI:15765 oboInOwl:hasRelatedSynonym "Dihydroxy-L-phenylalanine" -CHEBI:15765 oboInOwl:hasRelatedSynonym "(-)-dopa" CHEBI:15765 oboInOwl:hasRelatedSynonym "L-beta-(3,4-Dihydroxyphenyl)alanine" +CHEBI:15765 oboInOwl:hasRelatedSynonym "(-)-dopa" MONDO:0013432 oboInOwl:hasRelatedSynonym "MGORS5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013432 oboInOwl:hasRelatedSynonym "Meier-GORLIN syndrome 5" MONDO:0011440 oboInOwl:hasRelatedSynonym "Hyt2" @@ -54499,11 +54499,11 @@ GO:0008104 oboInOwl:hasRelatedSynonym "establishment and maintenance of protein GO:0008104 oboInOwl:hasRelatedSynonym "establishment and maintenance of asymmetric protein localization" GO:0008104 oboInOwl:hasRelatedSynonym "asymmetric protein localization" GO:0008104 oboInOwl:hasRelatedSynonym "asymmetric protein localisation" -MONDO:0008437 oboInOwl:hasRelatedSynonym "spastic paraplegia 3" MONDO:0008437 oboInOwl:hasRelatedSynonym "familial spastic paraplegia, autosomal dominant, 1" MONDO:0008437 oboInOwl:hasRelatedSynonym "Strumpell disease" MONDO:0008437 oboInOwl:hasRelatedSynonym "Spg3" MONDO:0008437 oboInOwl:hasRelatedSynonym "spastic paraplegia 3, autosomal dominant" +MONDO:0008437 oboInOwl:hasRelatedSynonym "spastic paraplegia 3" MONDO:0009511 oboInOwl:hasRelatedSynonym "Larsen syndrome, autosomal recessive, formerly" MONDO:0009511 oboInOwl:hasRelatedSynonym "JDSCD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009511 oboInOwl:hasRelatedSynonym "multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects" @@ -54631,15 +54631,15 @@ MONDO:0007405 oboInOwl:hasRelatedSynonym "Crouzon disease" MONDO:0007405 oboInOwl:hasRelatedSynonym "Cfd1" MONDO:0007405 oboInOwl:hasRelatedSynonym "craniofacial dysostosis, type 1" MONDO:0007405 oboInOwl:hasRelatedSynonym "craniofacial dysostosis type 1" -MONDO:0009019 oboInOwl:hasRelatedSynonym "corneal endothelial dystrophy" +MONDO:0009019 oboInOwl:hasRelatedSynonym "CHED2, formerly" MONDO:0009019 oboInOwl:hasRelatedSynonym "corneal endothelial dystrophy 2, autosomal recessive, formerly" MONDO:0009019 oboInOwl:hasRelatedSynonym "corneal dystrophy, congenital hereditary endothelial" MONDO:0009019 oboInOwl:hasRelatedSynonym "congenital hereditary endothelial dystrophy of the cornea" -MONDO:0009019 oboInOwl:hasRelatedSynonym "corneal endothelial dystrophy 2" -MONDO:0009019 oboInOwl:hasRelatedSynonym "corneal endothelial dystrophy 2, autosomal recessive" MONDO:0009019 oboInOwl:hasRelatedSynonym "congenital hereditary endothelial dystrophy type II" +MONDO:0009019 oboInOwl:hasRelatedSynonym "corneal endothelial dystrophy 2" MONDO:0009019 oboInOwl:hasRelatedSynonym "corneal endothelial dystrophy type 2" -MONDO:0009019 oboInOwl:hasRelatedSynonym "CHED2, formerly" +MONDO:0009019 oboInOwl:hasRelatedSynonym "corneal endothelial dystrophy 2, autosomal recessive" +MONDO:0009019 oboInOwl:hasRelatedSynonym "corneal endothelial dystrophy" MONDO:0010116 oboInOwl:hasRelatedSynonym "'thoraco-limb' dysplasia" MONDO:0010116 oboInOwl:hasRelatedSynonym "thoraco-limb dysplasia" MONDO:0044299 oboInOwl:hasRelatedSynonym "CMS22" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -54703,8 +54703,8 @@ MONDO:0033559 oboInOwl:hasRelatedSynonym "IDDSELD" http://purl.obolibrary.org/ob MONDO:0000727 oboInOwl:hasRelatedSynonym "scapuloperoneal syndrome, myopathic type" MONDO:0000727 oboInOwl:hasRelatedSynonym "myopathy, scapuloperoneal" MONDO:0018504 oboInOwl:hasRelatedSynonym "undifferentiated stomach adenocarcinoma" -MONDO:0032934 oboInOwl:hasRelatedSynonym "GUBS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032934 oboInOwl:hasRelatedSynonym "GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME" +MONDO:0032934 oboInOwl:hasRelatedSynonym "GUBS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0029135 oboInOwl:hasRelatedSynonym "Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related" MONDO:0029135 oboInOwl:hasRelatedSynonym "muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8" MONDO:0029135 oboInOwl:hasRelatedSynonym "MDDGC8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -54726,12 +54726,6 @@ MONDO:0011559 oboInOwl:hasRelatedSynonym "benign recurrent intrahepatic cholesta MONDO:0011559 oboInOwl:hasRelatedSynonym "mild ABCB11 deficiency" MONDO:0011559 oboInOwl:hasRelatedSynonym "cholestasis, benign recurrent intrahepatic 2" MONDO:0011559 oboInOwl:hasRelatedSynonym "cholestasis, benign recurrent intrahepatic, 2" -MONDO:0016963 oboInOwl:hasRelatedSynonym "trisomy 13q" -MONDO:0016963 oboInOwl:hasRelatedSynonym "13q trisomy" -MONDO:0016963 oboInOwl:hasRelatedSynonym "chromosome 13q duplication" -MONDO:0016963 oboInOwl:hasRelatedSynonym "partial trisomy 13q" -MONDO:0016963 oboInOwl:hasRelatedSynonym "13q duplication" -MONDO:0016963 oboInOwl:hasRelatedSynonym "Duplication 13q" MONDO:0011969 oboInOwl:hasRelatedSynonym "congenital disorder of glycosylation, type Ih" MONDO:0011969 oboInOwl:hasRelatedSynonym "ALG8-CDG (CDG-Ih)" MONDO:0011969 oboInOwl:hasRelatedSynonym "CDG 1H" @@ -54844,10 +54838,10 @@ MONDO:0009965 oboInOwl:hasRelatedSynonym "renal hamartomas, nephroblastomatosis, MONDO:0009965 oboInOwl:hasRelatedSynonym "nephroblastomatosis fetal ascites macrosomia and Wilms tumor" MONDO:0009965 oboInOwl:hasRelatedSynonym "PRLMNS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009965 oboInOwl:hasRelatedSynonym "nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor" -MONDO:0010672 oboInOwl:hasRelatedSynonym "microphthalmia dermal aplasia and sclerocornea syndrome" MONDO:0010672 oboInOwl:hasRelatedSynonym "linear skin defects with multiple congenital anomalies 1" MONDO:0010672 oboInOwl:hasRelatedSynonym "Micropthalmia syndromic 7" MONDO:0010672 oboInOwl:hasRelatedSynonym "LSDMCA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010672 oboInOwl:hasRelatedSynonym "microphthalmia dermal aplasia and sclerocornea syndrome" MONDO:0015041 oboInOwl:hasRelatedSynonym "refractory anemia with excess blasts type 2" MONDO:0011089 oboInOwl:hasRelatedSynonym "PSVS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011089 oboInOwl:hasRelatedSynonym "PDV" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -54873,11 +54867,11 @@ CHEBI:58095 oboInOwl:hasRelatedSynonym "(2S)-2-ammonio-3-phenylpropanoate" CHEBI:58095 oboInOwl:hasRelatedSynonym "phenylalanine" CHEBI:58095 oboInOwl:hasRelatedSynonym "L-phenylalanine" MONDO:0017569 oboInOwl:hasRelatedSynonym "cutis laxa growth deficiency syndrome" -MONDO:0017569 oboInOwl:hasRelatedSynonym "corneal clouding, cutis laxa and intellectual disability" -MONDO:0017569 oboInOwl:hasRelatedSynonym "progeroid syndrome of de Barsy" -MONDO:0017569 oboInOwl:hasRelatedSynonym "corneal clouding, cutis laxa and mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0017569 oboInOwl:hasRelatedSynonym "autosomal recessive cutis laxa type III" MONDO:0017569 oboInOwl:hasRelatedSynonym "progeroid syndrome, de Barsy type" +MONDO:0017569 oboInOwl:hasRelatedSynonym "progeroid syndrome of de Barsy" +MONDO:0017569 oboInOwl:hasRelatedSynonym "corneal clouding, cutis laxa and mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0017569 oboInOwl:hasRelatedSynonym "corneal clouding, cutis laxa and intellectual disability" NCBITaxon:29461 oboInOwl:hasRelatedSynonym "Brucella melitensis biovar Suis" http://purl.obolibrary.org/obo/ncbitaxon#genbank_synonym MONDO:0013433 oboInOwl:hasRelatedSynonym "cholangitis, primary sclerosing" NCBITaxon:210 oboInOwl:hasRelatedSynonym "Helicobacter nemestrinae" http://purl.obolibrary.org/obo/ncbitaxon#synonym @@ -55423,16 +55417,16 @@ MONDO:0044222 oboInOwl:hasRelatedSynonym "P1(K) phenotype" CHEBI:48210 oboInOwl:hasRelatedSynonym "cyclopentafurofurochromenes" MONDO:0006369 oboInOwl:hasRelatedSynonym "PPTID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0006369 oboInOwl:hasRelatedSynonym "pineal parenchymal tumors of intermediate differentiation" +MONDO:0009179 oboInOwl:hasRelatedSynonym "epidermolysis bullosa dystrophica inversa, autosomal recessive" MONDO:0009179 oboInOwl:hasRelatedSynonym "epidermolysis bullosa dystrophica, autosomal recessive" -MONDO:0009179 oboInOwl:hasRelatedSynonym "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)" +MONDO:0009179 oboInOwl:hasRelatedSynonym "RDEB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009179 oboInOwl:hasRelatedSynonym "epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant" MONDO:0009179 oboInOwl:hasRelatedSynonym "RDEB, severe generalized" -MONDO:0009179 oboInOwl:hasRelatedSynonym "dystrophic epidermolysis bullosa, autosomal recessive" -MONDO:0009179 oboInOwl:hasRelatedSynonym "epidermolysis bullosa dystrophica, generalized severe, autosomal recessive" MONDO:0009179 oboInOwl:hasRelatedSynonym "recessive dystrophic epidermolysis bullosa, severe generalized" MONDO:0009179 oboInOwl:hasRelatedSynonym "epidermolysis bullosa dystrophica, Hallopeau-Siemens type" -MONDO:0009179 oboInOwl:hasRelatedSynonym "epidermolysis bullosa dystrophica inversa, autosomal recessive" -MONDO:0009179 oboInOwl:hasRelatedSynonym "epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant" -MONDO:0009179 oboInOwl:hasRelatedSynonym "RDEB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009179 oboInOwl:hasRelatedSynonym "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)" +MONDO:0009179 oboInOwl:hasRelatedSynonym "dystrophic epidermolysis bullosa, autosomal recessive" +MONDO:0009179 oboInOwl:hasRelatedSynonym "epidermolysis bullosa dystrophica, generalized severe, autosomal recessive" MONDO:0005282 oboInOwl:hasRelatedSynonym "lupus erythematosus, cutaneous" MONDO:0009569 oboInOwl:hasRelatedSynonym "cutaneous mastocytosis, conductive hearing loss and microtia" MONDO:0009569 oboInOwl:hasRelatedSynonym "skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability" @@ -55763,8 +55757,8 @@ MONDO:0008721 oboInOwl:hasRelatedSynonym "acyl-CoA dehydrogenase, medium-chain, MONDO:0008721 oboInOwl:hasRelatedSynonym "acyl-CoA dehydrogenase medium chain deficiency of" MONDO:0008721 oboInOwl:hasRelatedSynonym "Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency" MONDO:0008721 oboInOwl:hasRelatedSynonym "ACADMD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0002218 oboInOwl:hasRelatedSynonym "temporal lobe neoplasm" CHEBI:76413 oboInOwl:hasRelatedSynonym "greenhouse gases" +MONDO:0002218 oboInOwl:hasRelatedSynonym "temporal lobe neoplasm" MONDO:0060533 oboInOwl:hasRelatedSynonym "MISSLA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011451 oboInOwl:hasRelatedSynonym "cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy" MONDO:0011451 oboInOwl:hasRelatedSynonym "CEMCOX1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -55949,15 +55943,15 @@ MONDO:0013038 oboInOwl:hasRelatedSynonym "congenital lipomatous overgrowth - vas MONDO:0014596 oboInOwl:hasRelatedSynonym "LIS7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007462 oboInOwl:hasRelatedSynonym "MS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007462 oboInOwl:hasRelatedSynonym "disseminated sclerosis" -MONDO:0010535 oboInOwl:hasRelatedSynonym "follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome" MONDO:0010535 oboInOwl:hasRelatedSynonym "BZX" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010535 oboInOwl:hasRelatedSynonym "follicular atrophoderma-basal cell carcinoma syndrome" +MONDO:0010535 oboInOwl:hasRelatedSynonym "follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome" MONDO:0005846 oboInOwl:hasRelatedSynonym "Microsporidiasis" MONDO:0014351 oboInOwl:hasRelatedSynonym "pontocerebellar hypoplasia, type 9" MONDO:0016380 oboInOwl:hasRelatedSynonym "hypertrichosis lanuginosa, acquired" +MONDO:0014479 oboInOwl:hasRelatedSynonym "POROK8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000688 oboInOwl:hasRelatedSynonym "organic aciduria" MONDO:0000688 oboInOwl:hasRelatedSynonym "organic acidemia" -MONDO:0014479 oboInOwl:hasRelatedSynonym "POROK8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012202 oboInOwl:hasRelatedSynonym "susceptibility to mild malaria" MONDO:0012202 oboInOwl:hasRelatedSynonym "Mals" MONDO:0006450 oboInOwl:hasRelatedSynonym "TMN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -56342,10 +56336,10 @@ NCBITaxon:91347 oboInOwl:hasRelatedSynonym "Enterobacteriaceae group" http://pur MONDO:0009766 oboInOwl:hasRelatedSynonym "oculocerebral hypopigmentation syndrome type Preus" MONDO:0008996 oboInOwl:hasRelatedSynonym "cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis" MONDO:0013234 oboInOwl:hasRelatedSynonym "HOKPP2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012211 oboInOwl:hasRelatedSynonym "congenital disorder of glycosylation, type If" MONDO:0012211 oboInOwl:hasRelatedSynonym "CDG If" -MONDO:0012211 oboInOwl:hasRelatedSynonym "MPDU1-CDG (CDG-If)" +MONDO:0012211 oboInOwl:hasRelatedSynonym "congenital disorder of glycosylation, type If" MONDO:0012211 oboInOwl:hasRelatedSynonym "carbohydrate-deficient glycoprotein syndrome type 1F" +MONDO:0012211 oboInOwl:hasRelatedSynonym "MPDU1-CDG (CDG-If)" MONDO:0012211 oboInOwl:hasRelatedSynonym "CDG 1F" MONDO:0001427 oboInOwl:hasRelatedSynonym "Dieulafoy disease" MONDO:0001427 oboInOwl:hasRelatedSynonym "Dieulafoy's lesion" @@ -56517,16 +56511,16 @@ MONDO:0010042 oboInOwl:hasRelatedSynonym "hereditary spastic diplegia with menta MONDO:0010042 oboInOwl:hasRelatedSynonym "spastic diplegia, infantile type" MONDO:0010042 oboInOwl:hasRelatedSynonym "hereditary spastic diplegia with intellectual disability" MONDO:0006451 oboInOwl:hasRelatedSynonym "THYC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009968 oboInOwl:hasRelatedSynonym "AR dRTA with hearing loss" -MONDO:0009968 oboInOwl:hasRelatedSynonym "renal tubular acidosis with progressive nerve deafness" -MONDO:0009968 oboInOwl:hasRelatedSynonym "autosomal recessive distal renal tubular acidosis with hearing loss" MONDO:0009968 oboInOwl:hasRelatedSynonym "autosomal recessive distal renal tubular acidosis with deafness" -MONDO:0009968 oboInOwl:hasRelatedSynonym "AR dRTA wth deafness" -MONDO:0009968 oboInOwl:hasRelatedSynonym "renal tubular acidosis progressive nerve deafness" -MONDO:0009968 oboInOwl:hasRelatedSynonym "renal tubular acidosis with deafness" MONDO:0009968 oboInOwl:hasRelatedSynonym "renal tubular acidosis, autosomal recessive, with progressive nerve deafness" -MONDO:0009968 oboInOwl:hasRelatedSynonym "renal tubular acidosis type 1b" MONDO:0009968 oboInOwl:hasRelatedSynonym "RTA with progressive nerve deafness" +MONDO:0009968 oboInOwl:hasRelatedSynonym "renal tubular acidosis progressive nerve deafness" +MONDO:0009968 oboInOwl:hasRelatedSynonym "renal tubular acidosis with progressive nerve deafness" +MONDO:0009968 oboInOwl:hasRelatedSynonym "AR dRTA wth deafness" +MONDO:0009968 oboInOwl:hasRelatedSynonym "renal tubular acidosis type 1b" +MONDO:0009968 oboInOwl:hasRelatedSynonym "renal tubular acidosis with deafness" +MONDO:0009968 oboInOwl:hasRelatedSynonym "autosomal recessive distal renal tubular acidosis with hearing loss" +MONDO:0009968 oboInOwl:hasRelatedSynonym "AR dRTA with hearing loss" MONDO:0008881 oboInOwl:hasRelatedSynonym "congenital bowing with short bones" MONDO:0008881 oboInOwl:hasRelatedSynonym "bowing, congenital, with short bones" MONDO:0014206 oboInOwl:hasRelatedSynonym "ILLD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -56683,8 +56677,8 @@ MONDO:0012719 oboInOwl:hasRelatedSynonym "PSAPD" http://purl.obolibrary.org/obo/ MONDO:0012719 oboInOwl:hasRelatedSynonym "combined SAP deficiency" MONDO:0012719 oboInOwl:hasRelatedSynonym "combined Sap deficiency" MONDO:0012719 oboInOwl:hasRelatedSynonym "prosaposin deficiency" -MONDO:0032688 oboInOwl:hasRelatedSynonym "POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME" MONDO:0032688 oboInOwl:hasRelatedSynonym "PMGEDSV" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032688 oboInOwl:hasRelatedSynonym "POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME" MONDO:0009515 oboInOwl:hasRelatedSynonym "familial LCAT deficiency" MONDO:0009515 oboInOwl:hasRelatedSynonym "LCAT deficiency" MONDO:0010068 oboInOwl:hasRelatedSynonym "Sponastrime dysplasia" @@ -56719,8 +56713,8 @@ MONDO:0020950 oboInOwl:hasRelatedSynonym "Viral Ocular Infections" MONDO:0020950 oboInOwl:hasRelatedSynonym "EYE INFECT VIRAL" MONDO:0020950 oboInOwl:hasRelatedSynonym "Ocular Infections, Viral" MONDO:0020950 oboInOwl:hasRelatedSynonym "Viral Eye Infection" -MONDO:0009912 oboInOwl:hasRelatedSynonym "PRL deficiency with obesity and enlarged testes" HP:0000668 oboInOwl:hasRelatedSynonym "Missing between one and six teeth" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0009912 oboInOwl:hasRelatedSynonym "PRL deficiency with obesity and enlarged testes" MONDO:0018039 oboInOwl:hasRelatedSynonym "SIgMD" GO:0007411 oboInOwl:hasRelatedSynonym "axon chemotaxis" GO:0023052 oboInOwl:hasRelatedSynonym "single organism signaling" @@ -56783,7 +56777,6 @@ MONDO:0024965 oboInOwl:hasRelatedSynonym "animal muscular dystrophies" MONDO:0024965 oboInOwl:hasRelatedSynonym "animal muscular dystrophy" MONDO:0024965 oboInOwl:hasRelatedSynonym "dystrophies, animal muscular" MONDO:0024965 oboInOwl:hasRelatedSynonym "muscular dystrophies, animal" -MONDO:0003405 oboInOwl:hasRelatedSynonym "central nervous system adult germ cell tumor" MONDO:0007339 oboInOwl:hasRelatedSynonym "blepharo-cheilo-dontic syndrome" MONDO:0007339 oboInOwl:hasRelatedSynonym "blepharocheilodontic syndrome 1" MONDO:0007339 oboInOwl:hasRelatedSynonym "ectropion inferior cleft lip and or palate" @@ -56793,6 +56786,7 @@ MONDO:0007339 oboInOwl:hasRelatedSynonym "clefting, ectropion, and conical teeth MONDO:0007339 oboInOwl:hasRelatedSynonym "BCDS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007339 oboInOwl:hasRelatedSynonym "Elschnig syndrome" MONDO:0007339 oboInOwl:hasRelatedSynonym "ectropion, inferior, with cleft lip and/or palate" +MONDO:0003405 oboInOwl:hasRelatedSynonym "central nervous system adult germ cell tumor" MONDO:0010716 oboInOwl:hasRelatedSynonym "multiple pterygium syndrome X-linked" MONDO:0010716 oboInOwl:hasRelatedSynonym "pterygium syndrome multiple X-linked" MONDO:0010716 oboInOwl:hasRelatedSynonym "multiple pterygium syndrome, X-linked" @@ -56815,8 +56809,8 @@ CHEBI:27573 oboInOwl:hasRelatedSynonym "Silicon" CHEBI:27573 oboInOwl:hasRelatedSynonym "14Si" CHEBI:27573 oboInOwl:hasRelatedSynonym "silicio" MONDO:0012927 oboInOwl:hasRelatedSynonym "holoprosencephaly 10" -MONDO:0012927 oboInOwl:hasRelatedSynonym "1q41-q42 deletion syndrome" MONDO:0012927 oboInOwl:hasRelatedSynonym "deletion 1q41-q42" +MONDO:0012927 oboInOwl:hasRelatedSynonym "1q41-q42 deletion syndrome" MONDO:0004311 oboInOwl:hasRelatedSynonym "Cowper gland carcinoma" MONDO:0054724 oboInOwl:hasRelatedSynonym "SPGF20" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032703 oboInOwl:hasRelatedSynonym "SSASKS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -57087,8 +57081,8 @@ MONDO:0060527 oboInOwl:hasRelatedSynonym "benign hypersuccinylacetonemia" MONDO:0054731 oboInOwl:hasRelatedSynonym "SPGF27" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009299 oboInOwl:hasRelatedSynonym "XX gonadal dysgenesis" MONDO:0009299 oboInOwl:hasRelatedSynonym "ovarian dysgenesis" -MONDO:0032884 oboInOwl:hasRelatedSynonym "EDFAOB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032884 oboInOwl:hasRelatedSynonym "ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES" +MONDO:0032884 oboInOwl:hasRelatedSynonym "EDFAOB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015474 oboInOwl:hasRelatedSynonym "Cryptosporidioses" MONDO:0011479 oboInOwl:hasRelatedSynonym "orthostatic intolerance" MONDO:0011479 oboInOwl:hasRelatedSynonym "Soldiers heart" @@ -57160,11 +57154,11 @@ MONDO:0007034 oboInOwl:hasRelatedSynonym "limb scalp and skull defects" MONDO:0009464 oboInOwl:hasRelatedSynonym "Interleukin 1, defective T-cell response to" MONDO:0014073 oboInOwl:hasRelatedSynonym "cardiomyopathy, dilated, 1II" MONDO:0011687 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth disease type 2F" -MONDO:0011687 oboInOwl:hasRelatedSynonym "Charcot Marie Tooth disease type 2F" +MONDO:0011687 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth disease, neuronal, type 2F" MONDO:0011687 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth disease, axonal, type 2F" +MONDO:0011687 oboInOwl:hasRelatedSynonym "Charcot Marie Tooth disease type 2F" MONDO:0011687 oboInOwl:hasRelatedSynonym "CMT 2F" MONDO:0011687 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth neuropathy, type 2F" -MONDO:0011687 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth disease, neuronal, type 2F" MONDO:0010938 oboInOwl:hasRelatedSynonym "severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE" MONDO:0010938 oboInOwl:hasRelatedSynonym "SCID, T cell-negative, B cell-positive, NK cell-negative" MONDO:0010938 oboInOwl:hasRelatedSynonym "severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency" @@ -57197,12 +57191,12 @@ MONDO:0012269 oboInOwl:hasRelatedSynonym "microdeletion 3Q29 syndrome" MONDO:0012269 oboInOwl:hasRelatedSynonym "3q29 deletion syndrome" MONDO:0014542 oboInOwl:hasRelatedSynonym "myasthenic syndrome, congenital, 15" MONDO:0014542 oboInOwl:hasRelatedSynonym "myasthenic syndrome, congenital, without tubular aggregates" -MONDO:0005135 oboInOwl:hasRelatedSynonym "parasitism" -MONDO:0005135 oboInOwl:hasRelatedSynonym "parasite infestation" MONDO:0005135 oboInOwl:hasRelatedSynonym "diseases, parasitic" -MONDO:0005135 oboInOwl:hasRelatedSynonym "parasitosis" MONDO:0005135 oboInOwl:hasRelatedSynonym "disease, parasitic" MONDO:0005135 oboInOwl:hasRelatedSynonym "infestation" +MONDO:0005135 oboInOwl:hasRelatedSynonym "parasitosis" +MONDO:0005135 oboInOwl:hasRelatedSynonym "parasite infestation" +MONDO:0005135 oboInOwl:hasRelatedSynonym "parasitism" PO:0009008 oboInOwl:hasRelatedSynonym "simple plant organ (related)" PO:0009008 oboInOwl:hasRelatedSynonym "compound plant organ (related)" MONDO:0008335 oboInOwl:hasRelatedSynonym "pterygia, intellectual disability and distinctive craniofacial features" @@ -57610,13 +57604,13 @@ GO:1904018 oboInOwl:hasRelatedSynonym "up regulation of vascular system developm GO:1904018 oboInOwl:hasRelatedSynonym "upregulation of vascular system development" MONDO:0014599 oboInOwl:hasRelatedSynonym "autosomal dominant non-syndromic intellectual disability 34" MONDO:0014599 oboInOwl:hasRelatedSynonym "mental retardation, autosomal dominant 34" http://purl.obolibrary.org/obo/mondo#DEPRECATED -CHEBI:16526 oboInOwl:hasRelatedSynonym "carbonic anhydride" CHEBI:16526 oboInOwl:hasRelatedSynonym "E-290" CHEBI:16526 oboInOwl:hasRelatedSynonym "E 290" CHEBI:16526 oboInOwl:hasRelatedSynonym "[CO2]" CHEBI:16526 oboInOwl:hasRelatedSynonym "R-744" CHEBI:16526 oboInOwl:hasRelatedSynonym "E290" CHEBI:16526 oboInOwl:hasRelatedSynonym "CO2" +CHEBI:16526 oboInOwl:hasRelatedSynonym "carbonic anhydride" MONDO:0001952 oboInOwl:hasRelatedSynonym "parietal lobe neoplasm" MONDO:0008920 oboInOwl:hasRelatedSynonym "myopathic carnitine deficiency" HP:0000750 oboInOwl:hasRelatedSynonym "Speech difficulties" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -57648,18 +57642,18 @@ MONDO:0010247 oboInOwl:hasRelatedSynonym "Siemerling-Creutzfeldt disease" CHEBI:60809 oboInOwl:hasRelatedSynonym "adjuvants" CHEBI:33560 oboInOwl:hasRelatedSynonym "p-block elements" CHEBI:33560 oboInOwl:hasRelatedSynonym "p-block element" -MONDO:0017069 oboInOwl:hasRelatedSynonym "spina bifida manifesta" MONDO:0017069 oboInOwl:hasRelatedSynonym "spina bifida, open" -MONDO:0017069 oboInOwl:hasRelatedSynonym "open spina bifida" +MONDO:0017069 oboInOwl:hasRelatedSynonym "spina bifida manifesta" MONDO:0017069 oboInOwl:hasRelatedSynonym "spina bifida aperta" -MONDO:0009465 oboInOwl:hasRelatedSynonym "familial intestinal polyatresia syndrome" -MONDO:0009465 oboInOwl:hasRelatedSynonym "intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency" -MONDO:0009465 oboInOwl:hasRelatedSynonym "intestinal atresia multiple" +MONDO:0017069 oboInOwl:hasRelatedSynonym "open spina bifida" +MONDO:0009465 oboInOwl:hasRelatedSynonym "combined immunodeficiency-enteropathy spectrum" MONDO:0009465 oboInOwl:hasRelatedSynonym "gastrointestinal defects and immunodeficiency syndrome" +MONDO:0009465 oboInOwl:hasRelatedSynonym "intestinal atresia, multiple" +MONDO:0009465 oboInOwl:hasRelatedSynonym "intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency" MONDO:0009465 oboInOwl:hasRelatedSynonym "GIDID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009465 oboInOwl:hasRelatedSynonym "intestinal atresia multiple" +MONDO:0009465 oboInOwl:hasRelatedSynonym "familial intestinal polyatresia syndrome" MONDO:0009465 oboInOwl:hasRelatedSynonym "CID-MIA/early-onset IBD" -MONDO:0009465 oboInOwl:hasRelatedSynonym "intestinal atresia, multiple" -MONDO:0009465 oboInOwl:hasRelatedSynonym "combined immunodeficiency-enteropathy spectrum" MONDO:0005136 oboInOwl:hasRelatedSynonym "plasmodiosis" MONDO:0014074 oboInOwl:hasRelatedSynonym "DI-CMTF" MONDO:0014074 oboInOwl:hasRelatedSynonym "GNB4-related intermediate Charcot-Marie-Tooth neuropathy" @@ -57792,14 +57786,14 @@ MONDO:0008115 oboInOwl:hasRelatedSynonym "microcephaly, mental retardation, and MONDO:0008115 oboInOwl:hasRelatedSynonym "Feingold syndrome" MONDO:0008115 oboInOwl:hasRelatedSynonym "Oded syndrome" MONDO:0018792 oboInOwl:hasRelatedSynonym "rare disorder with a Moyamoya angiopathy" -MONDO:0009673 oboInOwl:hasRelatedSynonym "spinal muscular atrophy type II" -MONDO:0009673 oboInOwl:hasRelatedSynonym "Sma 2" -MONDO:0009673 oboInOwl:hasRelatedSynonym "muscular atrophy, spinal, Intermediate type" MONDO:0009673 oboInOwl:hasRelatedSynonym "Dubowitz disease" -MONDO:0009673 oboInOwl:hasRelatedSynonym "spinal muscular atrophy type 2" +MONDO:0009673 oboInOwl:hasRelatedSynonym "spinal muscular atrophy type II" MONDO:0009673 oboInOwl:hasRelatedSynonym "spinal muscular atrophy, type 2" MONDO:0009673 oboInOwl:hasRelatedSynonym "proximal spinal muscular atrophy type 2" +MONDO:0009673 oboInOwl:hasRelatedSynonym "spinal muscular atrophy type 2" MONDO:0009673 oboInOwl:hasRelatedSynonym "SMA II" +MONDO:0009673 oboInOwl:hasRelatedSynonym "Sma 2" +MONDO:0009673 oboInOwl:hasRelatedSynonym "muscular atrophy, spinal, Intermediate type" MONDO:0013165 oboInOwl:hasRelatedSynonym "spastic paraplegia 45, autosomal recessive" MONDO:0011853 oboInOwl:hasRelatedSynonym "camptopolydactyly, disorganization type" MONDO:0011853 oboInOwl:hasRelatedSynonym "CCSPD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -58452,10 +58446,10 @@ MONDO:0014218 oboInOwl:hasRelatedSynonym "EPKHE" http://purl.obolibrary.org/obo/ MONDO:0014218 oboInOwl:hasRelatedSynonym "Sam syndrome" CHEBI:33280 oboInOwl:hasRelatedSynonym "chemical messenger" GO:0015291 oboInOwl:hasRelatedSynonym "galactose/glucose (methylgalactoside) porter activity" -MONDO:0017853 oboInOwl:hasRelatedSynonym "extrinsic allergic pneumonia hypersensitivity pneumonitis" MONDO:0017853 oboInOwl:hasRelatedSynonym "allergic pneumonitis" -MONDO:0017853 oboInOwl:hasRelatedSynonym "alveolitis, extrinsic allergic" MONDO:0017853 oboInOwl:hasRelatedSynonym "allergic interstitial pneumonitis" +MONDO:0017853 oboInOwl:hasRelatedSynonym "alveolitis, extrinsic allergic" +MONDO:0017853 oboInOwl:hasRelatedSynonym "extrinsic allergic pneumonia hypersensitivity pneumonitis" MONDO:0011405 oboInOwl:hasRelatedSynonym "poikiloderma with neutropenia, Clericuzio-type" MONDO:0011405 oboInOwl:hasRelatedSynonym "PN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011405 oboInOwl:hasRelatedSynonym "poikiloderma with neutropenia Clericuzio type" @@ -59053,8 +59047,8 @@ MONDO:0043004 oboInOwl:hasRelatedSynonym "disease, Weil's" MONDO:0008393 oboInOwl:hasRelatedSynonym "broad thumbs and great toes, characteristic facies, and intellectual disability" MONDO:0008393 oboInOwl:hasRelatedSynonym "broad thumbs and great toes, characteristic facies, and mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0008393 oboInOwl:hasRelatedSynonym "broad thumb-hallux syndrome" -MONDO:0008393 oboInOwl:hasRelatedSynonym "Rubinstein syndrome" MONDO:0008393 oboInOwl:hasRelatedSynonym "RSTS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008393 oboInOwl:hasRelatedSynonym "Rubinstein syndrome" MONDO:0010668 oboInOwl:hasRelatedSynonym "mental retardation skeletal dysplasia abducens palsy" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010668 oboInOwl:hasRelatedSynonym "mental retardation, skeletal dysplasia, and abducens palsy" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010668 oboInOwl:hasRelatedSynonym "intellectual disability skeletal dysplasia abducens palsy" @@ -59191,9 +59185,9 @@ MONDO:0014124 oboInOwl:hasRelatedSynonym "AOS4" http://purl.obolibrary.org/obo/m MONDO:0006306 oboInOwl:hasRelatedSynonym "breast mixed ductal and lobular carcinoma" MONDO:0014298 oboInOwl:hasRelatedSynonym "PDE4D haploinsufficiency syndrome" NCBITaxon:6943 oboInOwl:hasRelatedSynonym "Haemalastor americanus" http://purl.obolibrary.org/obo/ncbitaxon#synonym -MONDO:0020701 oboInOwl:hasRelatedSynonym "BDA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020701 oboInOwl:hasRelatedSynonym "BRACHYDACTYLY, type A1" MONDO:0020701 oboInOwl:hasRelatedSynonym "Farabee-type Brachydactyly" +MONDO:0020701 oboInOwl:hasRelatedSynonym "BRACHYDACTYLY, type A1" +MONDO:0020701 oboInOwl:hasRelatedSynonym "BDA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011771 oboInOwl:hasRelatedSynonym "neuropathy, distal hereditary motor, type 4" MONDO:0011771 oboInOwl:hasRelatedSynonym "dHMN3" MONDO:0011771 oboInOwl:hasRelatedSynonym "HMN 3" @@ -59206,13 +59200,13 @@ MONDO:0014311 oboInOwl:hasRelatedSynonym "spinocerebellar ataxia, autosomal rece MONDO:0014311 oboInOwl:hasRelatedSynonym "Salih ataxia" MONDO:0014311 oboInOwl:hasRelatedSynonym "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency" MONDO:0014311 oboInOwl:hasRelatedSynonym "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency" -MONDO:0004277 oboInOwl:hasRelatedSynonym "PAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0004277 oboInOwl:hasRelatedSynonym "acrodermatitis, infantile lichenoid" MONDO:0004277 oboInOwl:hasRelatedSynonym "acrodermatitis, papular infantile" MONDO:0004277 oboInOwl:hasRelatedSynonym "papular acrodermatitis of childhood" -MONDO:0004277 oboInOwl:hasRelatedSynonym "PAC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0004277 oboInOwl:hasRelatedSynonym "Gianotti Crosti syndrome" +MONDO:0004277 oboInOwl:hasRelatedSynonym "PAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004277 oboInOwl:hasRelatedSynonym "infections, Neisseria gonorrhoeae" +MONDO:0004277 oboInOwl:hasRelatedSynonym "acrodermatitis, infantile lichenoid" +MONDO:0004277 oboInOwl:hasRelatedSynonym "Gianotti Crosti syndrome" +MONDO:0004277 oboInOwl:hasRelatedSynonym "PAC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004277 oboInOwl:hasRelatedSynonym "Crosti-gianotti syndrome" MONDO:0009506 oboInOwl:hasRelatedSynonym "neutrophil lactoferrin deficiency" MONDO:0009506 oboInOwl:hasRelatedSynonym "lactoferrin-deficient neutrophils" @@ -59415,8 +59409,6 @@ MONDO:0009561 oboInOwl:hasRelatedSynonym "lysosomal Alpha-D-mannosidase deficien MONDO:0009561 oboInOwl:hasRelatedSynonym "mannosidosis, ALPHA B, lysosomal" MONDO:0009561 oboInOwl:hasRelatedSynonym "Alpha-mannosidase B deficiency" MONDO:0009561 oboInOwl:hasRelatedSynonym "mannosidosis, alpha B lysosomal" -MONDO:0008791 oboInOwl:hasRelatedSynonym "ANPH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008791 oboInOwl:hasRelatedSynonym "anencephaly" MONDO:0008791 oboInOwl:hasRelatedSynonym "absence of a large part of the brain and the skull" MONDO:0014116 oboInOwl:hasRelatedSynonym "cortical dysplasia, complex, with other brain malformations 2" MONDO:0007594 oboInOwl:hasRelatedSynonym "factor V excess with spontaneous thrombosis" @@ -59491,16 +59483,16 @@ MONDO:0007867 oboInOwl:hasRelatedSynonym "Koilonychia, hereditary" HP:0001051 oboInOwl:hasRelatedSynonym "Dysseborrheic dermatitis" HP:0001999 oboInOwl:hasRelatedSynonym "Distortion of face" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0001999 oboInOwl:hasRelatedSynonym "Funny looking face" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0007047 oboInOwl:hasRelatedSynonym "rare form of Hirschsprung's disease" MONDO:0007047 oboInOwl:hasRelatedSynonym "palmoplantar keratoderma, punctate type 3" +MONDO:0007047 oboInOwl:hasRelatedSynonym "TIA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007047 oboInOwl:hasRelatedSynonym "collagenous plaques of hand and feet" -MONDO:0007047 oboInOwl:hasRelatedSynonym "palmoplantar keratoderma, punctate type III" -MONDO:0007047 oboInOwl:hasRelatedSynonym "collagenous plaques of hands and feet" +MONDO:0007047 oboInOwl:hasRelatedSynonym "aganglionosis, total colonic" MONDO:0007047 oboInOwl:hasRelatedSynonym "acrokeratoelastoidosis" -MONDO:0007047 oboInOwl:hasRelatedSynonym "TIA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007047 oboInOwl:hasRelatedSynonym "rare form of Hirschsprung's disease" MONDO:0007047 oboInOwl:hasRelatedSynonym "near-total intestinal aganglionosis" -MONDO:0007047 oboInOwl:hasRelatedSynonym "aganglionosis, total colonic" +MONDO:0007047 oboInOwl:hasRelatedSynonym "collagenous plaques of hands and feet" MONDO:0007047 oboInOwl:hasRelatedSynonym "NTIA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007047 oboInOwl:hasRelatedSynonym "palmoplantar keratoderma, punctate type III" MONDO:0014086 oboInOwl:hasRelatedSynonym "OI, type 15" MONDO:0014086 oboInOwl:hasRelatedSynonym "osteogenesis imperfecta, type 15" MONDO:0014086 oboInOwl:hasRelatedSynonym "osteogenesis imperfecta, type XV" @@ -59575,13 +59567,13 @@ MONDO:0002546 oboInOwl:hasRelatedSynonym "neurolemmoma" MONDO:0002546 oboInOwl:hasRelatedSynonym "SCHW" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0003015 oboInOwl:hasRelatedSynonym "cardiac process" NCBITaxon:200643 oboInOwl:hasRelatedSynonym "Bacteroidetes" http://purl.obolibrary.org/obo/ncbitaxon#synonym +MONDO:0010611 oboInOwl:hasRelatedSynonym "XLAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010611 oboInOwl:hasRelatedSynonym "hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction" -MONDO:0010611 oboInOwl:hasRelatedSynonym "hydrocephalus, X-linked" -MONDO:0010611 oboInOwl:hasRelatedSynonym "aqueductal stenosis, X-linked" -MONDO:0010611 oboInOwl:hasRelatedSynonym "hydrocephalus due to congenital stenosis of aqueduct of Sylvius" MONDO:0010611 oboInOwl:hasRelatedSynonym "HYCX" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010611 oboInOwl:hasRelatedSynonym "XLAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010611 oboInOwl:hasRelatedSynonym "hydrocephalus, X-linked" MONDO:0010611 oboInOwl:hasRelatedSynonym "HSAS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010611 oboInOwl:hasRelatedSynonym "hydrocephalus due to congenital stenosis of aqueduct of Sylvius" +MONDO:0010611 oboInOwl:hasRelatedSynonym "aqueductal stenosis, X-linked" MONDO:0019797 oboInOwl:hasRelatedSynonym "peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome" MONDO:0019797 oboInOwl:hasRelatedSynonym "nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome" MONDO:0008244 oboInOwl:hasRelatedSynonym "PBT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -59623,7 +59615,6 @@ CHEBI:88184 oboInOwl:hasRelatedSynonym "allergenic metal" MONDO:0009234 oboInOwl:hasRelatedSynonym "HMWK deficiency" MONDO:0009234 oboInOwl:hasRelatedSynonym "kininogen deficiency, high molecular weight" MONDO:0009234 oboInOwl:hasRelatedSynonym "kininogen deficiency, high molecular weight and Low molecular weight" -MONDO:0009234 oboInOwl:hasRelatedSynonym "high molecular weight kininogen deficiency" MONDO:0009234 oboInOwl:hasRelatedSynonym "Williams trait" MONDO:0009234 oboInOwl:hasRelatedSynonym "HMWK" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009234 oboInOwl:hasRelatedSynonym "Flaujeac trait, included" @@ -59635,7 +59626,6 @@ MONDO:0009234 oboInOwl:hasRelatedSynonym "kininogen deficiency, total" MONDO:0009234 oboInOwl:hasRelatedSynonym "high-molecular-weight kininogen deficiency, congenital" MONDO:0009234 oboInOwl:hasRelatedSynonym "Williams trait, included" MONDO:0009234 oboInOwl:hasRelatedSynonym "Flaujeac trait" -MONDO:0009234 oboInOwl:hasRelatedSynonym "Hmwk deficiency" MONDO:0010331 oboInOwl:hasRelatedSynonym "Chds3" MONDO:0012784 oboInOwl:hasRelatedSynonym "coenzyme Q10 deficiency, primary, 4" MONDO:0012784 oboInOwl:hasRelatedSynonym "spinocerebellar ataxia, autosomal recessive 9" @@ -59705,10 +59695,10 @@ MONDO:0008737 oboInOwl:hasRelatedSynonym "familial afibrinogenemia" MONDO:0008737 oboInOwl:hasRelatedSynonym "afibrinogenemia" MONDO:0008737 oboInOwl:hasRelatedSynonym "afibrinogenemia congenital" MONDO:0008737 oboInOwl:hasRelatedSynonym "afibrinogenemia, congenital" -MONDO:0011772 oboInOwl:hasRelatedSynonym "CDG 2D" MONDO:0011772 oboInOwl:hasRelatedSynonym "B4GALT1-CDG (CDG-IId)" MONDO:0011772 oboInOwl:hasRelatedSynonym "CDG IId" MONDO:0011772 oboInOwl:hasRelatedSynonym "congenital disorder of glycosylation, type IId" +MONDO:0011772 oboInOwl:hasRelatedSynonym "CDG 2D" GO:0002277 oboInOwl:hasRelatedSynonym "myeloid dendritic cell activation during immune response" MONDO:0019095 oboInOwl:hasRelatedSynonym "infection by Yersinia pestis" MONDO:0019095 oboInOwl:hasRelatedSynonym "black death" @@ -59731,8 +59721,6 @@ MONDO:0007039 oboInOwl:hasRelatedSynonym "neurofibromatosis, type 2" MONDO:0007039 oboInOwl:hasRelatedSynonym "acoustic neurinoma, bilateral" MONDO:0007039 oboInOwl:hasRelatedSynonym "neurofibromatosis, type II" MONDO:0007039 oboInOwl:hasRelatedSynonym "neurofibromatosis, central type" -MONDO:0060593 oboInOwl:hasRelatedSynonym "sprinting performance" -MONDO:0060593 oboInOwl:hasRelatedSynonym "Alpha-actinin-3 deficiency" MONDO:0007908 oboInOwl:hasRelatedSynonym "lipomatosis, multiple symmetric" MONDO:0007908 oboInOwl:hasRelatedSynonym "MSL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007908 oboInOwl:hasRelatedSynonym "Launois-Bensaude syndrome" @@ -59875,11 +59863,11 @@ MONDO:0043156 oboInOwl:hasRelatedSynonym "Glastre Cochat Bouvier syndrome" MONDO:0043156 oboInOwl:hasRelatedSynonym "familial infantile nephrotic syndrome with ocular abnormalities" MONDO:0044239 oboInOwl:hasRelatedSynonym "median-ulnar nerve communications" MONDO:0044239 oboInOwl:hasRelatedSynonym "Martin-Gruber Median-ulnar anastomosis" -MONDO:0012589 oboInOwl:hasRelatedSynonym "mental retardation, Syndromal, with intermittent hyperventilation" http://purl.obolibrary.org/obo/mondo#DEPRECATED -MONDO:0012589 oboInOwl:hasRelatedSynonym "intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea" MONDO:0012589 oboInOwl:hasRelatedSynonym "intellectual disability, Syndromal, with intermittent hyperventilation" -MONDO:0012589 oboInOwl:hasRelatedSynonym "encephalopathy, Severe epileptic, with autonomic dysfunction" +MONDO:0012589 oboInOwl:hasRelatedSynonym "intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea" MONDO:0012589 oboInOwl:hasRelatedSynonym "Pitt Hopkins syndrome" +MONDO:0012589 oboInOwl:hasRelatedSynonym "encephalopathy, Severe epileptic, with autonomic dysfunction" +MONDO:0012589 oboInOwl:hasRelatedSynonym "mental retardation, Syndromal, with intermittent hyperventilation" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0012589 oboInOwl:hasRelatedSynonym "PTHS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013535 oboInOwl:hasRelatedSynonym "glyoxalase 2 deficiency" MONDO:0010004 oboInOwl:hasRelatedSynonym "ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate" @@ -60039,9 +60027,9 @@ MONDO:0009140 oboInOwl:hasRelatedSynonym "dyssegmental dwarfism Silverman-Handma MONDO:0009140 oboInOwl:hasRelatedSynonym "DDSH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032815 oboInOwl:hasRelatedSynonym "MTDPS17" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032815 oboInOwl:hasRelatedSynonym "MITOCHONDRIAL DNA DEPLETION SYNDROME 17" -NCBITaxon:50557 oboInOwl:hasRelatedSynonym "insects" http://purl.obolibrary.org/obo/ncbitaxon#blast_name MONDO:0015794 oboInOwl:hasRelatedSynonym "multicore myopathy, antenatal onset, with arthrogryposis" MONDO:0015794 oboInOwl:hasRelatedSynonym "multiminicore myopathy, antenatal onset, with arthrogryposis" +NCBITaxon:50557 oboInOwl:hasRelatedSynonym "insects" http://purl.obolibrary.org/obo/ncbitaxon#blast_name CHEBI:24471 oboInOwl:hasRelatedSynonym "halogen molecular entities" CHEBI:24471 oboInOwl:hasRelatedSynonym "halogen compounds" MONDO:0004884 oboInOwl:hasRelatedSynonym "degenerative disorder of globe" @@ -60604,10 +60592,10 @@ CHEBI:32486 oboInOwl:hasRelatedSynonym "L-phenylalanine anion" CHEBI:32486 oboInOwl:hasRelatedSynonym "(2S)-2-amino-3-phenylpropanoate" CHEBI:35296 oboInOwl:hasRelatedSynonym "ortho-fused polycyclic arenes" MONDO:0004327 oboInOwl:hasRelatedSynonym "Schneiderian papilloma of sphenoid sinus" +MONDO:0009015 oboInOwl:hasRelatedSynonym "corneal dystrophy and perceptive deafness" MONDO:0009015 oboInOwl:hasRelatedSynonym "congenital corneal dystrophy, progressive sensorineural deafness" MONDO:0009015 oboInOwl:hasRelatedSynonym "corneal dystrophy and sensorineural deafness" MONDO:0009015 oboInOwl:hasRelatedSynonym "Cdpd1" -MONDO:0009015 oboInOwl:hasRelatedSynonym "corneal dystrophy and perceptive deafness" MONDO:0024686 oboInOwl:hasRelatedSynonym "tenosynovial giant cell tumor diffuse type" CHEBI:60643 oboInOwl:hasRelatedSynonym "NMDAR antagonists" CHEBI:60643 oboInOwl:hasRelatedSynonym "NMDAR antagonist" @@ -60850,8 +60838,8 @@ MONDO:0010342 oboInOwl:hasRelatedSynonym "AUTSX3" http://purl.obolibrary.org/obo MONDO:0014497 oboInOwl:hasRelatedSynonym "PEPNS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044303 oboInOwl:hasRelatedSynonym "CHDED" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015908 oboInOwl:hasRelatedSynonym "Chromoblastomycoses" -MONDO:0015908 oboInOwl:hasRelatedSynonym "dermatitis Verrucosa" MONDO:0015908 oboInOwl:hasRelatedSynonym "Chromomycoses" +MONDO:0015908 oboInOwl:hasRelatedSynonym "dermatitis Verrucosa" NCBITaxon:160 oboInOwl:hasRelatedSynonym "Microspironema pallidum" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:160 oboInOwl:hasRelatedSynonym "Spirillum pallidum" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:160 oboInOwl:hasRelatedSynonym "Spironema pallidum" http://purl.obolibrary.org/obo/ncbitaxon#synonym @@ -60956,15 +60944,15 @@ MONDO:0032564 oboInOwl:hasRelatedSynonym "HKLLS3" http://purl.obolibrary.org/obo MONDO:0032564 oboInOwl:hasRelatedSynonym "HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3" NCBITaxon:138 oboInOwl:hasRelatedSynonym "Relapsing Fever Borrelia" http://purl.obolibrary.org/obo/ncbitaxon#synonym MONDO:0001382 oboInOwl:hasRelatedSynonym "hepato-renal syndrome" -MONDO:0014507 oboInOwl:hasRelatedSynonym "index finger anomaly with Pierre Robin syndrome" -MONDO:0014507 oboInOwl:hasRelatedSynonym "Catel Manzke syndrome" MONDO:0014507 oboInOwl:hasRelatedSynonym "Palatodigital syndrome Catel-Manzke type" +MONDO:0014507 oboInOwl:hasRelatedSynonym "Catel Manzke syndrome" MONDO:0014507 oboInOwl:hasRelatedSynonym "CATMANS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014507 oboInOwl:hasRelatedSynonym "Pierre Robin syndrome with hyperphalangy and clinodactyly" -MONDO:0009072 oboInOwl:hasRelatedSynonym "Dandy-Walker malformation" -MONDO:0009072 oboInOwl:hasRelatedSynonym "mega cisterna magna (type of DW complex)" +MONDO:0014507 oboInOwl:hasRelatedSynonym "index finger anomaly with Pierre Robin syndrome" MONDO:0009072 oboInOwl:hasRelatedSynonym "DW complex" MONDO:0009072 oboInOwl:hasRelatedSynonym "Dandy-Walker complex" +MONDO:0009072 oboInOwl:hasRelatedSynonym "mega cisterna magna (type of DW complex)" +MONDO:0009072 oboInOwl:hasRelatedSynonym "Dandy-Walker malformation" MONDO:0009072 oboInOwl:hasRelatedSynonym "DWS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009072 oboInOwl:hasRelatedSynonym "Dandy-Walker syndrome or malformation (type of DW complex)" MONDO:0009072 oboInOwl:hasRelatedSynonym "isolated Dandy-Walker malformation" @@ -61204,12 +61192,12 @@ MONDO:0016346 oboInOwl:hasRelatedSynonym "hydrocephalus obesity hypogonadism" MONDO:0016346 oboInOwl:hasRelatedSynonym "congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism" MONDO:0019722 oboInOwl:hasRelatedSynonym "glomerulopathies" MONDO:0011062 oboInOwl:hasRelatedSynonym "aprosencephaly and cerebellar dysgenesis" -MONDO:0006373 oboInOwl:hasRelatedSynonym "PTAD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:33521 oboInOwl:hasRelatedSynonym "metals" CHEBI:33521 oboInOwl:hasRelatedSynonym "metal elements" CHEBI:33521 oboInOwl:hasRelatedSynonym "metal element" CHEBI:33521 oboInOwl:hasRelatedSynonym "elemental metals" CHEBI:33521 oboInOwl:hasRelatedSynonym "elemental metal" +MONDO:0006373 oboInOwl:hasRelatedSynonym "PTAD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009402 oboInOwl:hasRelatedSynonym "acrofrontofacionasal dysostosis, severe" MONDO:0009402 oboInOwl:hasRelatedSynonym "Naguib syndrome" MONDO:0009402 oboInOwl:hasRelatedSynonym "hypertelorism, hypospadias, and polysyndactyly syndrome" @@ -61226,8 +61214,8 @@ MONDO:0017787 oboInOwl:hasRelatedSynonym "generalized erythroderma, diarrhea, an MONDO:0017787 oboInOwl:hasRelatedSynonym "erythroderma desquamativum of infancy" MONDO:0032768 oboInOwl:hasRelatedSynonym "Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination" MONDO:0013252 oboInOwl:hasRelatedSynonym "WARSAW breakage syndrome" -MONDO:0032605 oboInOwl:hasRelatedSynonym "MRT66" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032605 oboInOwl:hasRelatedSynonym "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66" +MONDO:0032605 oboInOwl:hasRelatedSynonym "MRT66" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011940 oboInOwl:hasRelatedSynonym "Mycobacterium tuberculosis, protection against" MONDO:0011940 oboInOwl:hasRelatedSynonym "Mycobacterium tuberculosis, susceptibility to infection by" MONDO:0010178 oboInOwl:hasRelatedSynonym "CBAVD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -61346,13 +61334,13 @@ MONDO:0012735 oboInOwl:hasRelatedSynonym "severe mental retardation and absent n MONDO:0012735 oboInOwl:hasRelatedSynonym "intellectual disability, severe, and absent nails of hallux and pollex" CHEBI:33693 oboInOwl:hasRelatedSynonym "oxygen hydrides" CHEBI:33693 oboInOwl:hasRelatedSynonym "hydrides of oxygen" -SO:0000988 oboInOwl:hasRelatedSynonym "zero-ended" MONDO:0019148 oboInOwl:hasRelatedSynonym "familial visceral xanthomatosis" MONDO:0019148 oboInOwl:hasRelatedSynonym "primary familial xanthomatosis with adrenal calcification" MONDO:0019148 oboInOwl:hasRelatedSynonym "primary familial xanthomatosis" MONDO:0019148 oboInOwl:hasRelatedSynonym "familial xanthomatosis" MONDO:0019148 oboInOwl:hasRelatedSynonym "deficiency of cholesterol esterase and triacylglycerol lipase" MONDO:0019148 oboInOwl:hasRelatedSynonym "liposomal acid lipase deficiency, Wolman type" +SO:0000988 oboInOwl:hasRelatedSynonym "zero-ended" NCBITaxon:40674 oboInOwl:hasRelatedSynonym "mammals" http://purl.obolibrary.org/obo/ncbitaxon#blast_name MONDO:0008469 oboInOwl:hasRelatedSynonym "Whyte Petersen McAlister syndrome" MONDO:0008469 oboInOwl:hasRelatedSynonym "Whyte syndrome" @@ -61490,12 +61478,12 @@ MONDO:0012106 oboInOwl:hasRelatedSynonym "MCPH5" http://purl.obolibrary.org/obo/ MONDO:0013664 oboInOwl:hasRelatedSynonym "46,XY sex reversal 8" MONDO:0013664 oboInOwl:hasRelatedSynonym "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase" MONDO:0013664 oboInOwl:hasRelatedSynonym "SRXY8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012516 oboInOwl:hasRelatedSynonym "Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate" MONDO:0012516 oboInOwl:hasRelatedSynonym "MFDM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012516 oboInOwl:hasRelatedSynonym "MFDGA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012516 oboInOwl:hasRelatedSynonym "Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate" +MONDO:0012516 oboInOwl:hasRelatedSynonym "Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate" MONDO:0012516 oboInOwl:hasRelatedSynonym "Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0012516 oboInOwl:hasRelatedSynonym "Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome" -MONDO:0012516 oboInOwl:hasRelatedSynonym "Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate" MONDO:0007123 oboInOwl:hasRelatedSynonym "ankyloblepharon filiforme congenitum" MONDO:0007123 oboInOwl:hasRelatedSynonym "AFA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007123 oboInOwl:hasRelatedSynonym "congenital filiform fusion of the eyelids with cleft palate and/or cleft lip" @@ -61540,13 +61528,13 @@ MONDO:0008530 oboInOwl:hasRelatedSynonym "conical teeth, multiple" MONDO:0008530 oboInOwl:hasRelatedSynonym "Lobodontia" MONDO:0012193 oboInOwl:hasRelatedSynonym "limb-girdle muscular dystrophy type 1G" MONDO:0012193 oboInOwl:hasRelatedSynonym "limb-girdle muscular dystrophy, type 1G" -MONDO:0011776 oboInOwl:hasRelatedSynonym "CINCA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011776 oboInOwl:hasRelatedSynonym "Prieur Griscelli syndrome" -MONDO:0011776 oboInOwl:hasRelatedSynonym "IOMID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011776 oboInOwl:hasRelatedSynonym "Cryopyrin-associated periodic syndrome 3" MONDO:0011776 oboInOwl:hasRelatedSynonym "neonatal onset multisystem inflammatory disease" +MONDO:0011776 oboInOwl:hasRelatedSynonym "CINCA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011776 oboInOwl:hasRelatedSynonym "multisystem inflammatory disease, neonatal-onset" +MONDO:0011776 oboInOwl:hasRelatedSynonym "IOMID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011776 oboInOwl:hasRelatedSynonym "infantile onset multisystem inflammatory disease" +MONDO:0011776 oboInOwl:hasRelatedSynonym "Cryopyrin-associated periodic syndrome 3" GO:0008480 oboInOwl:hasRelatedSynonym "sarcosine:acceptor oxidoreductase (demethylating)" GO:0008480 oboInOwl:hasRelatedSynonym "sarcosine:(acceptor) oxidoreductase (demethylating)" GO:0008480 oboInOwl:hasRelatedSynonym "sarcosine N-demethylase activity" @@ -61596,8 +61584,8 @@ CHEBI:16709 oboInOwl:hasRelatedSynonym "pyridoxine" CHEBI:16709 oboInOwl:hasRelatedSynonym "2-methyl-4,5-dimethylol-pyridin-3-ol" CHEBI:16709 oboInOwl:hasRelatedSynonym "pyridoxolum" CHEBI:16709 oboInOwl:hasRelatedSynonym "pyridoxinum" -CHEBI:16709 oboInOwl:hasRelatedSynonym "vitamin B6" CHEBI:16709 oboInOwl:hasRelatedSynonym "4,5-bis(hydroxymethyl)-2-methyl-pyridin-3-ol" +CHEBI:16709 oboInOwl:hasRelatedSynonym "vitamin B6" CHEBI:16709 oboInOwl:hasRelatedSynonym "3-hydroxy-4,5-dimethylol-alpha-picoline" CHEBI:16709 oboInOwl:hasRelatedSynonym "2-methyl-3-hydroxy-4,5-dihydroxymethylpyridine" CHEBI:16709 oboInOwl:hasRelatedSynonym "Pyridoxol" @@ -61725,8 +61713,8 @@ MONDO:0013673 oboInOwl:hasRelatedSynonym "WFSL" http://purl.obolibrary.org/obo/m MONDO:0013673 oboInOwl:hasRelatedSynonym "hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation" MONDO:0013673 oboInOwl:hasRelatedSynonym "Wolfram-like syndrome, autosomal dominant" MONDO:0032723 oboInOwl:hasRelatedSynonym "Immunodeficiency and Autoimmunity, Bach2-Related" -MONDO:0032723 oboInOwl:hasRelatedSynonym "IMMUNODEFICIENCY 60" MONDO:0032723 oboInOwl:hasRelatedSynonym "IMD60" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032723 oboInOwl:hasRelatedSynonym "IMMUNODEFICIENCY 60" MONDO:0016987 oboInOwl:hasRelatedSynonym "neuroacanthocytosis syndrome" MONDO:0013860 oboInOwl:hasRelatedSynonym "MBNP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013860 oboInOwl:hasRelatedSynonym "glomerulonephritis, membranous" @@ -61745,7 +61733,6 @@ MONDO:0002279 oboInOwl:hasRelatedSynonym "disorder, iron metabolism" MONDO:0002279 oboInOwl:hasRelatedSynonym "metabolism disorder, iron" MONDO:0002279 oboInOwl:hasRelatedSynonym "metabolism disorders, iron" MONDO:0002279 oboInOwl:hasRelatedSynonym "iron metabolism disorder" -MONDO:0010344 oboInOwl:hasRelatedSynonym "mental retardation, X-linked 45" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010344 oboInOwl:hasRelatedSynonym "MRX45" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0005655 oboInOwl:hasRelatedSynonym "ascaridiosis" MONDO:0005655 oboInOwl:hasRelatedSynonym "infection caused by Ascaridia" @@ -61785,14 +61772,12 @@ MONDO:0009963 oboInOwl:hasRelatedSynonym "renal dysplasia, mesomelia, and radioh CHEBI:53309 oboInOwl:hasRelatedSynonym "polyanions" CHEBI:53309 oboInOwl:hasRelatedSynonym "polyanion" MONDO:0011817 oboInOwl:hasRelatedSynonym "Chds1" -GO:0006778 oboInOwl:hasRelatedSynonym "porphyrin metabolism" -GO:0006778 oboInOwl:hasRelatedSynonym "porphyrin metabolic process" MONDO:0010752 oboInOwl:hasRelatedSynonym "X-linked VACTERL-H syndrome" MONDO:0010752 oboInOwl:hasRelatedSynonym "VACTERL association with hydrocephaly, X-linked" MONDO:0010752 oboInOwl:hasRelatedSynonym "VACTERL-H, X-linked" MONDO:0010752 oboInOwl:hasRelatedSynonym "VACTERLX" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0022173 oboInOwl:hasRelatedSynonym "trisomy 11q" -MONDO:0022173 oboInOwl:hasRelatedSynonym "Duplication 11q" +GO:0006778 oboInOwl:hasRelatedSynonym "porphyrin metabolism" +GO:0006778 oboInOwl:hasRelatedSynonym "porphyrin metabolic process" MONDO:0006082 oboInOwl:hasRelatedSynonym "ANSC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010123 oboInOwl:hasRelatedSynonym "thumb agenesis, short stature, and immunodeficiency" MONDO:0011681 oboInOwl:hasRelatedSynonym "episodic ataxia, type 4" @@ -61881,8 +61866,8 @@ MONDO:0005868 oboInOwl:hasRelatedSynonym "myelophthisis" MONDO:0014373 oboInOwl:hasRelatedSynonym "NPHS10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003781 oboInOwl:hasRelatedSynonym "recurrent wheezy bronchitis" MONDO:0003781 oboInOwl:hasRelatedSynonym "acute bronchitis and bronchiolitis" -MONDO:0003781 oboInOwl:hasRelatedSynonym "chest infection" MONDO:0003781 oboInOwl:hasRelatedSynonym "chest cold" +MONDO:0003781 oboInOwl:hasRelatedSynonym "chest infection" MONDO:0010733 oboInOwl:hasRelatedSynonym "Sppx2" MONDO:0010733 oboInOwl:hasRelatedSynonym "spastic paraplegia 2" MONDO:0010733 oboInOwl:hasRelatedSynonym "spastic paraplegia 2, X-linked" @@ -61970,6 +61955,7 @@ MONDO:0043789 oboInOwl:hasRelatedSynonym "intoxication by serum" MONDO:0043789 oboInOwl:hasRelatedSynonym "protein sickness" MONDO:0012381 oboInOwl:hasRelatedSynonym "hyperinsulinemic hypoglycemia, familial, 5" MONDO:0012381 oboInOwl:hasRelatedSynonym "HHF5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +GO:1904746 oboInOwl:hasRelatedSynonym "negative regulation of apoptosis activator activity involved in development of an anatomical structure" GO:1904746 oboInOwl:hasRelatedSynonym "down-regulation of apoptosis activator activity involved in development of an anatomical structure" GO:1904746 oboInOwl:hasRelatedSynonym "downregulation of signaling (initiator) caspase activity involved in development of an anatomical structure" GO:1904746 oboInOwl:hasRelatedSynonym "inhibition of apoptosis activator activity involved in anatomical structure development" @@ -62019,7 +62005,6 @@ GO:1904746 oboInOwl:hasRelatedSynonym "down-regulation of induction of apoptosis GO:1904746 oboInOwl:hasRelatedSynonym "inhibition of commitment to apoptosis involved in development of an anatomical structure" GO:1904746 oboInOwl:hasRelatedSynonym "downregulation of induction of apoptosis involved in anatomical structure development" GO:1904746 oboInOwl:hasRelatedSynonym "negative regulation of induction of apoptosis by p53 involved in anatomical structure development" -GO:1904746 oboInOwl:hasRelatedSynonym "negative regulation of apoptosis activator activity involved in development of an anatomical structure" NCBITaxon:1437010 oboInOwl:hasRelatedSynonym "Boreotheria" http://purl.obolibrary.org/obo/ncbitaxon#synonym MONDO:0002187 oboInOwl:hasRelatedSynonym "vulval disorder" MONDO:0019511 oboInOwl:hasRelatedSynonym "ADMCKD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -62223,9 +62208,6 @@ MONDO:0005656 oboInOwl:hasRelatedSynonym "infection, Ascaridida" MONDO:0005656 oboInOwl:hasRelatedSynonym "infections, Ascaridida" MONDO:0005656 oboInOwl:hasRelatedSynonym "Ascaridida infection" MONDO:0004402 oboInOwl:hasRelatedSynonym "glandular-alveolar pattern testicular yolk sac tumor" -MONDO:0006588 oboInOwl:hasRelatedSynonym "non-epidermolytic palmoplantar keratoderma" -MONDO:0006588 oboInOwl:hasRelatedSynonym "Unna-Thost syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED -MONDO:0006588 oboInOwl:hasRelatedSynonym "Thost-Unna syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0009398 oboInOwl:hasRelatedSynonym "glycosylphosphatidylinositol biosynthesis defect 2" MONDO:0009398 oboInOwl:hasRelatedSynonym "HPMRS1" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0009398 oboInOwl:hasRelatedSynonym "Mabry syndrome" @@ -62285,11 +62267,11 @@ NCBITaxon:42458 oboInOwl:hasRelatedSynonym "Mycocladus corymbiferus" http://purl NCBITaxon:42458 oboInOwl:hasRelatedSynonym "Mycocladus corymbifer" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:42458 oboInOwl:hasRelatedSynonym "Mucor corymbifer" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:42458 oboInOwl:hasRelatedSynonym "Absidia corymbifera" http://purl.obolibrary.org/obo/ncbitaxon#synonym -MONDO:0022174 oboInOwl:hasRelatedSynonym "partial monosomy 12p" -MONDO:0022174 oboInOwl:hasRelatedSynonym "12p monosomy" MONDO:0022174 oboInOwl:hasRelatedSynonym "monosomy 12p" MONDO:0022174 oboInOwl:hasRelatedSynonym "12p deletion" +MONDO:0022174 oboInOwl:hasRelatedSynonym "12p monosomy" MONDO:0022174 oboInOwl:hasRelatedSynonym "deletion 12p" +MONDO:0022174 oboInOwl:hasRelatedSynonym "partial monosomy 12p" MONDO:0010241 oboInOwl:hasRelatedSynonym "night blindness, congenital stationary, type 2A" MONDO:0010241 oboInOwl:hasRelatedSynonym "night blindness, congenital stationary, type 2" MONDO:0010241 oboInOwl:hasRelatedSynonym "CSNB2A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -62358,8 +62340,8 @@ MONDO:0015300 oboInOwl:hasRelatedSynonym "cataract microcornea syndrome" MONDO:0015799 oboInOwl:hasRelatedSynonym "Smith McCort dysplasia" MONDO:0015799 oboInOwl:hasRelatedSynonym "Smith-McCort dwarfism" MONDO:0018902 oboInOwl:hasRelatedSynonym "LIAD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011114 oboInOwl:hasRelatedSynonym "multiple familial trichoepithelioma" MONDO:0011114 oboInOwl:hasRelatedSynonym "epithelioma, hereditary multiple benign cystic" +MONDO:0011114 oboInOwl:hasRelatedSynonym "multiple familial trichoepithelioma" MONDO:0011114 oboInOwl:hasRelatedSynonym "hereditary multiple benign cystic epithelioma" MONDO:0011114 oboInOwl:hasRelatedSynonym "Brooke-Fordyce Trichoepitheliomas" MONDO:0011114 oboInOwl:hasRelatedSynonym "trichoepithelioma multiple familial" @@ -62382,22 +62364,22 @@ CHEBI:74783 oboInOwl:hasRelatedSynonym "astringents" CHEBI:74783 oboInOwl:hasRelatedSynonym "adstringents" CHEBI:74783 oboInOwl:hasRelatedSynonym "adstringent" MONDO:0004091 oboInOwl:hasRelatedSynonym "basaloid squamous cell skin carcinoma" -MONDO:0011335 oboInOwl:hasRelatedSynonym "spondyloepimetaphyseal dysplasia with JOINT laxity type 2" -MONDO:0011335 oboInOwl:hasRelatedSynonym "spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type" -MONDO:0011335 oboInOwl:hasRelatedSynonym "spondyloepimetaphyseal dysplasia with Joint laxity, Hall type" MONDO:0011335 oboInOwl:hasRelatedSynonym "spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type" +MONDO:0011335 oboInOwl:hasRelatedSynonym "spondyloepimetaphyseal dysplasia with Joint laxity, Hall type" MONDO:0011335 oboInOwl:hasRelatedSynonym "spondyloepimetaphyseal dysplasia with multiple dislocations Hall type" -MONDO:0011335 oboInOwl:hasRelatedSynonym "spondyloepimetaphyseal dysplasia with Joint laxity, type 2" MONDO:0011335 oboInOwl:hasRelatedSynonym "spondyloepimetaphyseal dysplasia with JOINT laxity, type 2" +MONDO:0011335 oboInOwl:hasRelatedSynonym "spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type" +MONDO:0011335 oboInOwl:hasRelatedSynonym "spondyloepimetaphyseal dysplasia with Joint laxity, type 2" +MONDO:0011335 oboInOwl:hasRelatedSynonym "spondyloepimetaphyseal dysplasia with JOINT laxity type 2" CHEBI:38196 oboInOwl:hasRelatedSynonym "hydroxymethylpyridines" MONDO:0003782 oboInOwl:hasRelatedSynonym "uterine epithelioid leiomyosarcoma" MONDO:0009320 oboInOwl:hasRelatedSynonym "Hall Riggs intellectual disability syndrome" MONDO:0009320 oboInOwl:hasRelatedSynonym "HALL-Riggs intellectual disability syndrome" MONDO:0009320 oboInOwl:hasRelatedSynonym "HALL-Riggs mental retardation syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0009320 oboInOwl:hasRelatedSynonym "Hall Riggs mental retardation syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED -MONDO:0032684 oboInOwl:hasRelatedSynonym "Imagei Syndrome" MONDO:0032684 oboInOwl:hasRelatedSynonym "INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY" MONDO:0032684 oboInOwl:hasRelatedSynonym "IMAGEI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032684 oboInOwl:hasRelatedSynonym "Imagei Syndrome" CHEBI:33695 oboInOwl:hasRelatedSynonym "information macromolecules" CHEBI:33695 oboInOwl:hasRelatedSynonym "information macromolecule" CHEBI:33695 oboInOwl:hasRelatedSynonym "information biopolymers" @@ -62438,15 +62420,15 @@ MONDO:0013887 oboInOwl:hasRelatedSynonym "HTX6" http://purl.obolibrary.org/obo/m MONDO:0017276 oboInOwl:hasRelatedSynonym "MSTD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017276 oboInOwl:hasRelatedSynonym "frontotemporal lobe dementia (FLDEM)" MONDO:0019063 oboInOwl:hasRelatedSynonym "vascular anomaly or angioma" -MONDO:0016910 oboInOwl:hasRelatedSynonym "11q deletion" -MONDO:0016910 oboInOwl:hasRelatedSynonym "partial monosomy 11q" +MONDO:0016910 oboInOwl:hasRelatedSynonym "chromosome 11q deletion" MONDO:0016910 oboInOwl:hasRelatedSynonym "deletion 11q" MONDO:0016910 oboInOwl:hasRelatedSynonym "chromosome 11q partial deletion" -MONDO:0016910 oboInOwl:hasRelatedSynonym "Deletion 11q partial" -MONDO:0016910 oboInOwl:hasRelatedSynonym "monosomy 11q partial" -MONDO:0016910 oboInOwl:hasRelatedSynonym "chromosome 11q deletion" MONDO:0016910 oboInOwl:hasRelatedSynonym "monosomy 11q" MONDO:0016910 oboInOwl:hasRelatedSynonym "11q monosomy" +MONDO:0016910 oboInOwl:hasRelatedSynonym "partial monosomy 11q" +MONDO:0016910 oboInOwl:hasRelatedSynonym "monosomy 11q partial" +MONDO:0016910 oboInOwl:hasRelatedSynonym "11q deletion" +MONDO:0016910 oboInOwl:hasRelatedSynonym "Deletion 11q partial" MONDO:0010337 oboInOwl:hasRelatedSynonym "OPHN1- related XLID" MONDO:0010337 oboInOwl:hasRelatedSynonym "intellectual disability, X-linked 60, formerly" MONDO:0010337 oboInOwl:hasRelatedSynonym "intellectual disability x-linked 60 (formerly)" @@ -62530,8 +62512,8 @@ MONDO:0007335 oboInOwl:hasRelatedSynonym "cleft lip with or without cleft palate MONDO:0001822 oboInOwl:hasRelatedSynonym "lipoprotein deficiencies" GO:0008482 oboInOwl:hasRelatedSynonym "sulfite:oxygen oxidoreductase activity" NCBITaxon:5592 oboInOwl:hasRelatedSynonym "Plectomycetes" http://purl.obolibrary.org/obo/ncbitaxon#in_part -MONDO:0033557 oboInOwl:hasRelatedSynonym "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6" MONDO:0033557 oboInOwl:hasRelatedSynonym "FHL6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0033557 oboInOwl:hasRelatedSynonym "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6" MONDO:0009973 oboInOwl:hasRelatedSynonym "reticular Dysgenesia" MONDO:0009973 oboInOwl:hasRelatedSynonym "aleukocytosis" MONDO:0009973 oboInOwl:hasRelatedSynonym "RD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -62871,8 +62853,8 @@ HP:0008070 oboInOwl:hasRelatedSynonym "Thin, sparse hair" http://purl.obolibrary MONDO:0004340 oboInOwl:hasRelatedSynonym "mixed ductal-endocrine carcinoma" MONDO:0015301 oboInOwl:hasRelatedSynonym "amyloidosis IX" MONDO:0015301 oboInOwl:hasRelatedSynonym "lichen amyloidosis familial" -MONDO:0015301 oboInOwl:hasRelatedSynonym "amyloidosis, primary localized cutaneous" MONDO:0015301 oboInOwl:hasRelatedSynonym "amyloidosis familial cutaneous lichen" +MONDO:0015301 oboInOwl:hasRelatedSynonym "amyloidosis, primary localized cutaneous" GO:2001222 oboInOwl:hasRelatedSynonym "regulation of neuron guidance" MONDO:0043075 oboInOwl:hasRelatedSynonym "Maccario Mena weir syndrome" MONDO:0043075 oboInOwl:hasRelatedSynonym "CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr" @@ -63053,13 +63035,13 @@ MONDO:0012196 oboInOwl:hasRelatedSynonym "auditory neuropathy, nonsyndromic domi MONDO:0012196 oboInOwl:hasRelatedSynonym "auditory neuropathy, autosomal dominant, 1" NCBITaxon:8028 oboInOwl:hasRelatedSynonym "Acantholingua" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:8028 oboInOwl:hasRelatedSynonym "Salmothymus" http://purl.obolibrary.org/obo/ncbitaxon#synonym -MONDO:0016430 oboInOwl:hasRelatedSynonym "Balo disease" MONDO:0016430 oboInOwl:hasRelatedSynonym "Tumefactive multiple sclerosis" -MONDO:0016430 oboInOwl:hasRelatedSynonym "diffuse cerebral sclerosis of Schilder" -MONDO:0016430 oboInOwl:hasRelatedSynonym "encephalitis periaxialis concentrica" +MONDO:0016430 oboInOwl:hasRelatedSynonym "Baló concentric sclerosis" MONDO:0016430 oboInOwl:hasRelatedSynonym "Marburg variant" +MONDO:0016430 oboInOwl:hasRelatedSynonym "encephalitis periaxialis concentrica" +MONDO:0016430 oboInOwl:hasRelatedSynonym "diffuse cerebral sclerosis of Schilder" +MONDO:0016430 oboInOwl:hasRelatedSynonym "Balo disease" MONDO:0016430 oboInOwl:hasRelatedSynonym "Balo's disease" -MONDO:0016430 oboInOwl:hasRelatedSynonym "Baló concentric sclerosis" MONDO:0011391 oboInOwl:hasRelatedSynonym "megalencephalic leukoencephalopathy with subcortical cysts 1" MONDO:0011391 oboInOwl:hasRelatedSynonym "megalencephaly-cystic leukodystrophy" MONDO:0011391 oboInOwl:hasRelatedSynonym "MLC1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -63104,10 +63086,10 @@ GO:1904410 oboInOwl:hasRelatedSynonym "down regulation of secretory granule orga GO:1904410 oboInOwl:hasRelatedSynonym "down-regulation of secretory granule organization and biogenesis" GO:1904410 oboInOwl:hasRelatedSynonym "inhibition of secretory granule organization and biogenesis" MONDO:0010894 oboInOwl:hasRelatedSynonym "MODY hepatocyte nuclear factor-1-alpha related" -MONDO:0010894 oboInOwl:hasRelatedSynonym "maturity-onset diabetes of the young, type 3" MONDO:0010894 oboInOwl:hasRelatedSynonym "diabetes mellitus MODY type 3" MONDO:0010894 oboInOwl:hasRelatedSynonym "MODY, type 3" MONDO:0010894 oboInOwl:hasRelatedSynonym "type 3 maturity-onset diabetes of the young" +MONDO:0010894 oboInOwl:hasRelatedSynonym "maturity-onset diabetes of the young, type 3" HP:0002573 oboInOwl:hasRelatedSynonym "Recurrent rectal bleeding" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0006147 oboInOwl:hasRelatedSynonym "CELNOS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0006804 oboInOwl:hasRelatedSynonym "breast cancer, inflammatory" @@ -63275,13 +63257,13 @@ MONDO:0054565 oboInOwl:hasRelatedSynonym "short-rib thoracic dysplasia 17 with o MONDO:0054565 oboInOwl:hasRelatedSynonym "SRTD17" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008553 oboInOwl:hasRelatedSynonym "thrombasthenia-thrombocytopenia, hereditary" MONDO:0008553 oboInOwl:hasRelatedSynonym "bleeding disorder, platelet-type, 17" -MONDO:0013108 oboInOwl:hasRelatedSynonym "ALL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013108 oboInOwl:hasRelatedSynonym "leukemia, acute lymphoblastic" MONDO:0013108 oboInOwl:hasRelatedSynonym "leukemia, T-cell acute lymphoblastic, susceptibility to" MONDO:0013108 oboInOwl:hasRelatedSynonym "All1" MONDO:0013108 oboInOwl:hasRelatedSynonym "leukemia, acute lymphoblastic, susceptibility to, 1" MONDO:0013108 oboInOwl:hasRelatedSynonym "leukemia, B-cell acute lymphoblastic, susceptibility to" MONDO:0013108 oboInOwl:hasRelatedSynonym "leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to" +MONDO:0013108 oboInOwl:hasRelatedSynonym "ALL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000708 oboInOwl:hasRelatedSynonym "jejunoileitis" MONDO:0014666 oboInOwl:hasRelatedSynonym "leukodystrophy, hypomyelinating, 11" MONDO:0012392 oboInOwl:hasRelatedSynonym "short/branched-chain acyl-Coa dehydrogenase deficiency" @@ -63647,14 +63629,14 @@ MONDO:0011477 oboInOwl:hasRelatedSynonym "hypodontia/oligodontia 3" MONDO:0011477 oboInOwl:hasRelatedSynonym "STHAG3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013677 oboInOwl:hasRelatedSynonym "EMERY-Dreifuss muscular dystrophy 7, autosomal dominant" MONDO:0013677 oboInOwl:hasRelatedSynonym "EDMD7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0006671 oboInOwl:hasRelatedSynonym "infection caused by Bacteroides" -MONDO:0006671 oboInOwl:hasRelatedSynonym "Bacteroides infection" -MONDO:0006671 oboInOwl:hasRelatedSynonym "infection, Bacteroides" -MONDO:0006671 oboInOwl:hasRelatedSynonym "infections, Bacteroides" MONDO:0018866 oboInOwl:hasRelatedSynonym "pseudotoxoplasmosis syndrome" MONDO:0018866 oboInOwl:hasRelatedSynonym "Aicardi-Goutières syndrome" MONDO:0018866 oboInOwl:hasRelatedSynonym "AGS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018866 oboInOwl:hasRelatedSynonym "encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis" +MONDO:0006671 oboInOwl:hasRelatedSynonym "infection caused by Bacteroides" +MONDO:0006671 oboInOwl:hasRelatedSynonym "Bacteroides infection" +MONDO:0006671 oboInOwl:hasRelatedSynonym "infection, Bacteroides" +MONDO:0006671 oboInOwl:hasRelatedSynonym "infections, Bacteroides" MONDO:0018046 oboInOwl:hasRelatedSynonym "Braddock Carey syndrome" MONDO:0018046 oboInOwl:hasRelatedSynonym "congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay" MONDO:0018046 oboInOwl:hasRelatedSynonym "thrombocytopenia Robin sequence" @@ -63719,9 +63701,9 @@ GO:2000027 oboInOwl:hasRelatedSynonym "regulation of histogenesis and organogene MONDO:0008554 oboInOwl:hasRelatedSynonym "thrombocytosis 1" MONDO:0008554 oboInOwl:hasRelatedSynonym "THCYT1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014667 oboInOwl:hasRelatedSynonym "CEMCOX3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +CHEBI:50047 oboInOwl:hasRelatedSynonym "organic amino compounds" MONDO:0013109 oboInOwl:hasRelatedSynonym "leukemia, acute lymphoblastic, susceptibility to, 2" MONDO:0013109 oboInOwl:hasRelatedSynonym "ALL2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -CHEBI:50047 oboInOwl:hasRelatedSynonym "organic amino compounds" MONDO:0000709 oboInOwl:hasRelatedSynonym "ileitis" MONDO:0009500 oboInOwl:hasRelatedSynonym "susceptibility to kuru" MONDO:0008730 oboInOwl:hasRelatedSynonym "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete" @@ -63737,8 +63719,6 @@ MONDO:0012393 oboInOwl:hasRelatedSynonym "congenital glutamine deficiency" MONDO:0012393 oboInOwl:hasRelatedSynonym "glutamine synthetase deficiency, congenital systemic" MONDO:0032526 oboInOwl:hasRelatedSynonym "SCA48" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032526 oboInOwl:hasRelatedSynonym "SPINOCEREBELLAR ATAXIA 48" -MONDO:0022177 oboInOwl:hasRelatedSynonym "Duplication 13q" -MONDO:0022177 oboInOwl:hasRelatedSynonym "trisomy 13q" MONDO:0005575 oboInOwl:hasRelatedSynonym "large intestine cancer" MONDO:0005575 oboInOwl:hasRelatedSynonym "CRC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005575 oboInOwl:hasRelatedSynonym "colon cancer" @@ -63789,17 +63769,17 @@ MONDO:0011047 oboInOwl:hasRelatedSynonym "deafness, femoral epiphyseal dysplasia MONDO:0008333 oboInOwl:hasRelatedSynonym "pseudoxanthoma elasticum, heterozygous" MONDO:0009891 oboInOwl:hasRelatedSynonym "primary polycythemia" MONDO:0009891 oboInOwl:hasRelatedSynonym "PRV" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007136 oboInOwl:hasRelatedSynonym "anorectal anomalies" +MONDO:0013383 oboInOwl:hasRelatedSynonym "susceptibility to Hirschsprung disease 3" +MONDO:0013383 oboInOwl:hasRelatedSynonym "Hirschsprung disease type 3" +MONDO:0013383 oboInOwl:hasRelatedSynonym "Hirschsprung disease modifier" +MONDO:0013383 oboInOwl:hasRelatedSynonym "HSCR3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024950 oboInOwl:hasRelatedSynonym "equine diseases" MONDO:0024950 oboInOwl:hasRelatedSynonym "disease, equine" MONDO:0024950 oboInOwl:hasRelatedSynonym "diseases, equine" MONDO:0024950 oboInOwl:hasRelatedSynonym "equine disease" MONDO:0024950 oboInOwl:hasRelatedSynonym "diseases, horse" MONDO:0024950 oboInOwl:hasRelatedSynonym "disease, horse" -MONDO:0007136 oboInOwl:hasRelatedSynonym "anorectal anomalies" -MONDO:0013383 oboInOwl:hasRelatedSynonym "susceptibility to Hirschsprung disease 3" -MONDO:0013383 oboInOwl:hasRelatedSynonym "Hirschsprung disease type 3" -MONDO:0013383 oboInOwl:hasRelatedSynonym "Hirschsprung disease modifier" -MONDO:0013383 oboInOwl:hasRelatedSynonym "HSCR3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012488 oboInOwl:hasRelatedSynonym "HBV, resistance to" MONDO:0012488 oboInOwl:hasRelatedSynonym "Hepatitis B Virus, resistance to" MONDO:0012488 oboInOwl:hasRelatedSynonym "HBV, susceptibility to" @@ -63959,17 +63939,17 @@ MONDO:0011876 oboInOwl:hasRelatedSynonym "susceptibility to juvenile absence epi MONDO:0011876 oboInOwl:hasRelatedSynonym "epilepsy, juvenile absence, susceptibility to, 1" MONDO:0044232 oboInOwl:hasRelatedSynonym "fingers, relative length OF" MONDO:0044232 oboInOwl:hasRelatedSynonym "2D:4D finger-length ratio" +MONDO:0008294 oboInOwl:hasRelatedSynonym "uroporphyrinogen synthase deficiency" +MONDO:0008294 oboInOwl:hasRelatedSynonym "porphyria, Swedish type" MONDO:0008294 oboInOwl:hasRelatedSynonym "porphobilinogen deaminase deficiency" -MONDO:0008294 oboInOwl:hasRelatedSynonym "porphyria, acute intermittent, Nonerythroid variant" +MONDO:0008294 oboInOwl:hasRelatedSynonym "PBGD deficiency" +MONDO:0008294 oboInOwl:hasRelatedSynonym "porphyria, Chester type" MONDO:0008294 oboInOwl:hasRelatedSynonym "porphyria, acute intermittent" MONDO:0008294 oboInOwl:hasRelatedSynonym "AIP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008294 oboInOwl:hasRelatedSynonym "porphyria, Chester type" -MONDO:0008294 oboInOwl:hasRelatedSynonym "hydroxymethylbilane synthase deficiency" -MONDO:0008294 oboInOwl:hasRelatedSynonym "PBGD deficiency" MONDO:0008294 oboInOwl:hasRelatedSynonym "UPS deficiency" MONDO:0008294 oboInOwl:hasRelatedSynonym "HMBS deficiency" -MONDO:0008294 oboInOwl:hasRelatedSynonym "porphyria, Swedish type" -MONDO:0008294 oboInOwl:hasRelatedSynonym "uroporphyrinogen synthase deficiency" +MONDO:0008294 oboInOwl:hasRelatedSynonym "porphyria, acute intermittent, Nonerythroid variant" +MONDO:0008294 oboInOwl:hasRelatedSynonym "hydroxymethylbilane synthase deficiency" MONDO:0023176 oboInOwl:hasRelatedSynonym "formaldehyde toxicity" MONDO:0023176 oboInOwl:hasRelatedSynonym "Formalin toxicity" MONDO:0023176 oboInOwl:hasRelatedSynonym "formaldehyde exposure" @@ -63981,6 +63961,7 @@ SO:1000029 oboInOwl:hasRelatedSynonym "(Drosophila)Df" HP:0000140 oboInOwl:hasRelatedSynonym "Menstrual abnormalities" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0014637 oboInOwl:hasRelatedSynonym "immunodeficiency 40" MONDO:0014637 oboInOwl:hasRelatedSynonym "IMD40" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010661 oboInOwl:hasRelatedSynonym "intellectual disability with optic atrophy, deafness, and seizures" MONDO:0010661 oboInOwl:hasRelatedSynonym "mental retardation X-linked severe Gustavson type" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010661 oboInOwl:hasRelatedSynonym "gust" MONDO:0010661 oboInOwl:hasRelatedSynonym "intellectual disability X-linked severe Gustavson type" @@ -63988,7 +63969,6 @@ MONDO:0010661 oboInOwl:hasRelatedSynonym "X-linked intellectual disability Gusta MONDO:0010661 oboInOwl:hasRelatedSynonym "mental retardation with optic atrophy, deafness, and seizures" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010661 oboInOwl:hasRelatedSynonym "X-linked mental retardation Gustavson type" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010661 oboInOwl:hasRelatedSynonym "Gustavson syndrome" -MONDO:0010661 oboInOwl:hasRelatedSynonym "intellectual disability with optic atrophy, deafness, and seizures" CHEBI:33748 oboInOwl:hasRelatedSynonym "nickel molecular entities" CHEBI:33748 oboInOwl:hasRelatedSynonym "nickel compounds" MONDO:0007956 oboInOwl:hasRelatedSynonym "median cleft of upper lip with polyps of facial skin and nasal mucosa" @@ -64095,7 +64075,6 @@ MONDO:0008787 oboInOwl:hasRelatedSynonym "AHMIO1" http://purl.obolibrary.org/obo MONDO:0008787 oboInOwl:hasRelatedSynonym "hypochromic microcytic anemia with iron overload" MONDO:0008787 oboInOwl:hasRelatedSynonym "anemia, hypochromic microcytic, with iron overload 1" MONDO:0009861 oboInOwl:hasRelatedSynonym "HPA, non-PKU mild" -MONDO:0009861 oboInOwl:hasRelatedSynonym "hyperphenylalaninemia, non-PKU mild" MONDO:0009861 oboInOwl:hasRelatedSynonym "phenylketonuria, maternal" MONDO:0009861 oboInOwl:hasRelatedSynonym "oligophrenia Phenylpyruvica" MONDO:0009861 oboInOwl:hasRelatedSynonym "phenylpyruvic oligophrenia" @@ -64172,11 +64151,11 @@ MONDO:0024522 oboInOwl:hasRelatedSynonym "PCA" http://purl.obolibrary.org/obo/mo MONDO:0024522 oboInOwl:hasRelatedSynonym "lichen amyloidosis, familial" MONDO:0024522 oboInOwl:hasRelatedSynonym "amyloidosis, familial cutaneous lichen" MONDO:0012237 oboInOwl:hasRelatedSynonym "NEM6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009711 oboInOwl:hasRelatedSynonym "myopathy, congenital with fiber-type disproportion" MONDO:0009711 oboInOwl:hasRelatedSynonym "myopathy, congenital, with fiber-type disproportion" MONDO:0009711 oboInOwl:hasRelatedSynonym "fiber-type disproportion myopathy, congenital" MONDO:0009711 oboInOwl:hasRelatedSynonym "congenital fiber type disproportion" MONDO:0009711 oboInOwl:hasRelatedSynonym "CFTD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009711 oboInOwl:hasRelatedSynonym "myopathy, congenital with fiber-type disproportion" MONDO:0022178 oboInOwl:hasRelatedSynonym "Mosiacism of chromosome 13q" MONDO:0004493 oboInOwl:hasRelatedSynonym "papillary pattern testicular yolk sac tumor" MONDO:0042370 oboInOwl:hasRelatedSynonym "infection caused by Yersinia enterocolitica" @@ -64258,8 +64237,8 @@ MONDO:0042452 oboInOwl:hasRelatedSynonym "tertiary stage of yaws" MONDO:0042452 oboInOwl:hasRelatedSynonym "tertiary yaws" MONDO:0013197 oboInOwl:hasRelatedSynonym "cardiomyopathy, familial hypertrophic, 14" MONDO:0010631 oboInOwl:hasRelatedSynonym "Incontinentia pigmenti type 2 (formerly)" -MONDO:0010631 oboInOwl:hasRelatedSynonym "Incontinentia pigmenti, type II, formerly" MONDO:0010631 oboInOwl:hasRelatedSynonym "IP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010631 oboInOwl:hasRelatedSynonym "Incontinentia pigmenti, type II, formerly" MONDO:0010631 oboInOwl:hasRelatedSynonym "Incontinentia pigmenti, type II" MONDO:0010631 oboInOwl:hasRelatedSynonym "Incontinentia pigmenti, familial Male-lethal type" MONDO:0010631 oboInOwl:hasRelatedSynonym "IP2 (formerly)" @@ -64393,9 +64372,9 @@ MONDO:0009697 oboInOwl:hasRelatedSynonym "Epm2" MONDO:0009697 oboInOwl:hasRelatedSynonym "epilepsy, progressive myoclonic, 2B" MONDO:0013189 oboInOwl:hasRelatedSynonym "TTM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002597 oboInOwl:hasRelatedSynonym "notochordal cancer" -MONDO:0011877 oboInOwl:hasRelatedSynonym "osteopetrosis autosomal dominant type 1" MONDO:0011877 oboInOwl:hasRelatedSynonym "osteopetrosis, autosomal dominant 1" MONDO:0011877 oboInOwl:hasRelatedSynonym "osteopetrosis, autosomal dominant, type 1" +MONDO:0011877 oboInOwl:hasRelatedSynonym "osteopetrosis autosomal dominant type 1" MONDO:0010662 oboInOwl:hasRelatedSynonym "mental retardation with spastic paraplegia and palmoplantar hyperkeratosis" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010662 oboInOwl:hasRelatedSynonym "intellectual disability with spastic paraplegia and palmoplantar hyperkeratosis" MONDO:0044233 oboInOwl:hasRelatedSynonym "hair whorl" @@ -64577,8 +64556,8 @@ MONDO:0032697 oboInOwl:hasRelatedSynonym "NEDLBA" http://purl.obolibrary.org/obo MONDO:0032697 oboInOwl:hasRelatedSynonym "NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES" MONDO:0012238 oboInOwl:hasRelatedSynonym "PEOA2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012238 oboInOwl:hasRelatedSynonym "progressive external ophthalmoplegia, autosomal dominant 2" -MONDO:0010077 oboInOwl:hasRelatedSynonym "Smed, type 2" MONDO:0010077 oboInOwl:hasRelatedSynonym "Smed, short limb-abnormal calcification type" +MONDO:0010077 oboInOwl:hasRelatedSynonym "Smed, type 2" MONDO:0010077 oboInOwl:hasRelatedSynonym "Smed short limb-abnormal calcification type" MONDO:0010077 oboInOwl:hasRelatedSynonym "spondylometaepiphyseal dysplasia, short limb-abnormal calcification type" MONDO:0010077 oboInOwl:hasRelatedSynonym "spondyloepimetaphyseal dysplasia - short limb - abnormal calcification" @@ -64724,9 +64703,8 @@ MONDO:0009901 oboInOwl:hasRelatedSynonym "Bartsocas Papas syndrome" MONDO:0009901 oboInOwl:hasRelatedSynonym "popliteal pterygium syndrome lethal type" MONDO:0009901 oboInOwl:hasRelatedSynonym "popliteal pterygium syndrome, lethal type" MONDO:0009901 oboInOwl:hasRelatedSynonym "pterygium popliteal lethal type" -MONDO:0013564 oboInOwl:hasRelatedSynonym "AHP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013564 oboInOwl:hasRelatedSynonym "Ahaptoglobinemia" -MONDO:0013564 oboInOwl:hasRelatedSynonym "hypohaptoglobinemia" +MONDO:0013564 oboInOwl:hasRelatedSynonym "AHP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013564 oboInOwl:hasRelatedSynonym "ANHAPTOGLOBINEMIA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:48560 oboInOwl:hasRelatedSynonym "dopaminergic agents" CHEBI:48560 oboInOwl:hasRelatedSynonym "dopamine drugs" @@ -64954,10 +64932,10 @@ MONDO:0009863 oboInOwl:hasRelatedSynonym "hyperphenylalanemia, BH4-deficient, A" MONDO:0009863 oboInOwl:hasRelatedSynonym "PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included" MONDO:0009863 oboInOwl:hasRelatedSynonym "hyperphenylalaninemia, BH4-deficient, A" MONDO:0009863 oboInOwl:hasRelatedSynonym "hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency" -MONDO:0014418 oboInOwl:hasRelatedSynonym "CNM5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:51356 oboInOwl:hasRelatedSynonym "penicillin anions" CHEBI:51356 oboInOwl:hasRelatedSynonym "penicillin anion" CHEBI:51356 oboInOwl:hasRelatedSynonym "penicillin" +MONDO:0014418 oboInOwl:hasRelatedSynonym "CNM5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013027 oboInOwl:hasRelatedSynonym "corneal dystrophy, POSTERIOR amorphous" MONDO:0013027 oboInOwl:hasRelatedSynonym "chromosome 12Q21.33 deletion syndrome" MONDO:0023050 oboInOwl:hasRelatedSynonym "ectrodactyly of lower limbs, congenital heart defect and characteristic facies" @@ -64996,10 +64974,10 @@ MONDO:0000480 oboInOwl:hasRelatedSynonym "puborectalis syndrome" MONDO:0000480 oboInOwl:hasRelatedSynonym "spastic pelvic floor syndrome" MONDO:0000480 oboInOwl:hasRelatedSynonym "sphincteric disobedience syndrome" MONDO:0000480 oboInOwl:hasRelatedSynonym "dyskinetic puborectalis" +MONDO:0010689 oboInOwl:hasRelatedSynonym "neuropathy, axonal motor-sensory with deafness and mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010689 oboInOwl:hasRelatedSynonym "neuropathy, axonal motor-sensory with deafness and intellectual disability" MONDO:0010689 oboInOwl:hasRelatedSynonym "neuropathy, axonal motor-sensory, with deafness and intellectual disability" MONDO:0010689 oboInOwl:hasRelatedSynonym "neuropathy, axonal motor-sensory, with deafness and mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED -MONDO:0010689 oboInOwl:hasRelatedSynonym "neuropathy, axonal motor-sensory with deafness and mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0042902 oboInOwl:hasRelatedSynonym "metaphyseal dysplasia hypertelorism hypospadias" MONDO:0042902 oboInOwl:hasRelatedSynonym "Say Carpenter syndrome" CHEBI:57504 oboInOwl:hasRelatedSynonym "L-dopa" @@ -65175,8 +65153,8 @@ MONDO:0011919 oboInOwl:hasRelatedSynonym "susceptibility to autoimmune disease 1 MONDO:0011919 oboInOwl:hasRelatedSynonym "vitiligo-associated multiple autoimmune disease susceptibility 2" MONDO:0011919 oboInOwl:hasRelatedSynonym "autoimmune disease susceptibility locus, chromosome 1P-related" MONDO:0008453 oboInOwl:hasRelatedSynonym "autosomal dominant adult-onset proximal spinal muscular atrophy" -MONDO:0008453 oboInOwl:hasRelatedSynonym "spinal muscular atrophy, late-onset, FINKEL type" MONDO:0008453 oboInOwl:hasRelatedSynonym "spinal muscular atrophy, proximal, adult, autosomal dominant" +MONDO:0008453 oboInOwl:hasRelatedSynonym "spinal muscular atrophy, late-onset, FINKEL type" MONDO:0008453 oboInOwl:hasRelatedSynonym "SMAFK" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008453 oboInOwl:hasRelatedSynonym "Finkel late-adult type Sma" MONDO:0032583 oboInOwl:hasRelatedSynonym "MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE" @@ -65237,9 +65215,9 @@ MONDO:0009529 oboInOwl:hasRelatedSynonym "lipoamide dehydrogenase deficiency, la MONDO:0008759 oboInOwl:hasRelatedSynonym "Oxoglutaric aciduria" MONDO:0008759 oboInOwl:hasRelatedSynonym "ALPHA-ketoglutarate dehydrogenase deficiency" MONDO:0008759 oboInOwl:hasRelatedSynonym "2 alpha ketoglutarate dehydrogenase deficiency" -MONDO:0008759 oboInOwl:hasRelatedSynonym "Alpha-Kgd deficiency" MONDO:0008759 oboInOwl:hasRelatedSynonym "Alpha KGD deficiency" MONDO:0008759 oboInOwl:hasRelatedSynonym "2-ketoglutarate dehydrogenase deficiency" +MONDO:0008759 oboInOwl:hasRelatedSynonym "Alpha-Kgd deficiency" MONDO:0009705 oboInOwl:hasRelatedSynonym "L-CPT 1 deficiency" MONDO:0009705 oboInOwl:hasRelatedSynonym "CPT deficiency, hepatic, type 1" MONDO:0009705 oboInOwl:hasRelatedSynonym "hepatic carnitine palmitoyltransferase 1 deficiency" @@ -65290,8 +65268,8 @@ MONDO:0008297 oboInOwl:hasRelatedSynonym "porphyria variegata" MONDO:0008297 oboInOwl:hasRelatedSynonym "PPOX deficiency" MONDO:0008297 oboInOwl:hasRelatedSynonym "VP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCBITaxon:783 oboInOwl:hasRelatedSynonym "Dermacentroxenus rickettsii" http://purl.obolibrary.org/obo/ncbitaxon#synonym -MONDO:0026732 oboInOwl:hasRelatedSynonym "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9" MONDO:0026732 oboInOwl:hasRelatedSynonym "CHNG9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0026732 oboInOwl:hasRelatedSynonym "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9" MONDO:0013825 oboInOwl:hasRelatedSynonym "diarrhea 6" MONDO:0013825 oboInOwl:hasRelatedSynonym "DIAR6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020692 oboInOwl:hasRelatedSynonym "SCDO1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -65335,12 +65313,12 @@ MONDO:0010256 oboInOwl:hasRelatedSynonym "mental retardation, X-linked 34" http: MONDO:0023521 oboInOwl:hasRelatedSynonym "dry skin, photophobia hyperkeratosis, abnormal fingernails" MONDO:0023521 oboInOwl:hasRelatedSynonym "palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia" MONDO:0023521 oboInOwl:hasRelatedSynonym "keratodermia palmoplantar periorificial" -MONDO:0009192 oboInOwl:hasRelatedSynonym "Wolcott Rallison syndrome" MONDO:0009192 oboInOwl:hasRelatedSynonym "IDDM-MED syndrome" -MONDO:0009192 oboInOwl:hasRelatedSynonym "epiphyseal dysplasia multiple with early-onset diabetes mellitus" +MONDO:0009192 oboInOwl:hasRelatedSynonym "Iddm-Med syndrome" MONDO:0009192 oboInOwl:hasRelatedSynonym "MED-IDDM syndrome" MONDO:0009192 oboInOwl:hasRelatedSynonym "epiphyseal dysplasia, multiple, with early-onset diabetes mellitus" -MONDO:0009192 oboInOwl:hasRelatedSynonym "Iddm-Med syndrome" +MONDO:0009192 oboInOwl:hasRelatedSynonym "epiphyseal dysplasia multiple with early-onset diabetes mellitus" +MONDO:0009192 oboInOwl:hasRelatedSynonym "Wolcott Rallison syndrome" MONDO:0009192 oboInOwl:hasRelatedSynonym "Med-Iddm syndrome" CHEBI:50584 oboInOwl:hasRelatedSynonym "hydroxyalkanes" CHEBI:50584 oboInOwl:hasRelatedSynonym "hydroxyalkane" @@ -65388,8 +65366,8 @@ MONDO:0011059 oboInOwl:hasRelatedSynonym "holoprosencephaly craniosynostosis" MONDO:0011059 oboInOwl:hasRelatedSynonym "holoprosencephaly, SEMILOBAR, with craniosynostosis" MONDO:0011059 oboInOwl:hasRelatedSynonym "camera Lituania Cohen syndrome" MONDO:0011059 oboInOwl:hasRelatedSynonym "Semilobar holoprosencephaly and primary craniosynostosis" -MONDO:0014890 oboInOwl:hasRelatedSynonym "CRISPONI/cold-induced sweating syndrome 3" MONDO:0014890 oboInOwl:hasRelatedSynonym "Crisponi/cold-induced sweating syndrome 3" +MONDO:0014890 oboInOwl:hasRelatedSynonym "CRISPONI/cold-induced sweating syndrome 3" GO:0000262 oboInOwl:hasRelatedSynonym "mitochondrial genome" MONDO:0000993 oboInOwl:hasRelatedSynonym "PRSC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:50176 oboInOwl:hasRelatedSynonym "skin-peeling agent" @@ -65606,11 +65584,11 @@ MONDO:0010529 oboInOwl:hasRelatedSynonym "Scax3" MONDO:0010529 oboInOwl:hasRelatedSynonym "ataxia-deafness syndrome, X-linked" MONDO:0010529 oboInOwl:hasRelatedSynonym "ataxia-deafness syndrome X-linked" MONDO:0010705 oboInOwl:hasRelatedSynonym "OUBR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009903 oboInOwl:hasRelatedSynonym "POADS syndrome" MONDO:0009903 oboInOwl:hasRelatedSynonym "Wildervanck-Smith syndrome" -MONDO:0009903 oboInOwl:hasRelatedSynonym "Genee-Wiedemann syndrome" MONDO:0009903 oboInOwl:hasRelatedSynonym "GWAFD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009903 oboInOwl:hasRelatedSynonym "POADS syndrome" MONDO:0009903 oboInOwl:hasRelatedSynonym "Genee-Wiedemann acrofacial dysostosis" +MONDO:0009903 oboInOwl:hasRelatedSynonym "Genee-Wiedemann syndrome" MONDO:0009903 oboInOwl:hasRelatedSynonym "postaxial acrofacial dysostosis (POADS) syndrome" MONDO:0013566 oboInOwl:hasRelatedSynonym "Fanconi Anemia, complementation Group 50" MONDO:0013566 oboInOwl:hasRelatedSynonym "Fanconi anemia, complementation group L" @@ -65699,8 +65677,8 @@ NCBITaxon:1351 oboInOwl:hasRelatedSynonym "Streptococcus faecalis" http://purl.o NCBITaxon:1351 oboInOwl:hasRelatedSynonym "Micrococcus ovalis" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:1351 oboInOwl:hasRelatedSynonym "Streptococcus glycerinaceus" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:1351 oboInOwl:hasRelatedSynonym "Micrococcus zymogenes" http://purl.obolibrary.org/obo/ncbitaxon#synonym -MONDO:0015736 oboInOwl:hasRelatedSynonym "Intermediate congenital NM" MONDO:0015736 oboInOwl:hasRelatedSynonym "Intermediate congenital nemaline myopathy" +MONDO:0015736 oboInOwl:hasRelatedSynonym "Intermediate congenital NM" MONDO:0018996 oboInOwl:hasRelatedSynonym "SCAR1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018996 oboInOwl:hasRelatedSynonym "autosomal recessive spinocerebellar ataxia-1" CHEBI:27869 oboInOwl:hasRelatedSynonym "Chloroethanoic acid" @@ -65739,8 +65717,8 @@ MONDO:0023149 oboInOwl:hasRelatedSynonym "Clostridium perfringens Infections" MONDO:0023149 oboInOwl:hasRelatedSynonym "Clostridium perfringens Infection" MONDO:0023149 oboInOwl:hasRelatedSynonym "Infections, Clostridium perfringens" MONDO:0023149 oboInOwl:hasRelatedSynonym "Infection caused by Clostridium perfringens" -MONDO:0023149 oboInOwl:hasRelatedSynonym "Infection, Clostridium perfringens" MONDO:0023149 oboInOwl:hasRelatedSynonym "C. perfringens infection" +MONDO:0023149 oboInOwl:hasRelatedSynonym "Infection, Clostridium perfringens" MONDO:0023149 oboInOwl:hasRelatedSynonym "Infection due to Clostridium perfringens" MONDO:0023149 oboInOwl:hasRelatedSynonym "Clostridium perfringens infection" MONDO:0011216 oboInOwl:hasRelatedSynonym "hemochromatosis, juvenile" @@ -66095,8 +66073,8 @@ MONDO:0006192 oboInOwl:hasRelatedSynonym "uterine endometrioid carcinoma" MONDO:0011412 oboInOwl:hasRelatedSynonym "encephalopathy, familial, with Collins bodies" MONDO:0011412 oboInOwl:hasRelatedSynonym "encephalopathy, familial, with neuroserpin inclusion bodies" GO:0006810 oboInOwl:hasRelatedSynonym "single-organism transport" -MONDO:0056822 oboInOwl:hasRelatedSynonym "Oppenheim disease" MONDO:0005946 oboInOwl:hasRelatedSynonym "Rhinosporidioses" +MONDO:0056822 oboInOwl:hasRelatedSynonym "Oppenheim disease" MONDO:0013060 oboInOwl:hasRelatedSynonym "dystonia-Parkinsonism, adult-onset" MONDO:0013060 oboInOwl:hasRelatedSynonym "Parkinson disease 14, autosomal recessive" MONDO:0013060 oboInOwl:hasRelatedSynonym "adult-onset dystonia - parkinsonism" @@ -66161,8 +66139,8 @@ MONDO:0010637 oboInOwl:hasRelatedSynonym "keratosis follicularis Spinulosa decal MONDO:0010637 oboInOwl:hasRelatedSynonym "keratosis follicularis spinulosa decalvans cum ophiasi" MONDO:0010637 oboInOwl:hasRelatedSynonym "Kfsdx" MONDO:0010637 oboInOwl:hasRelatedSynonym "keratosis follicularis spinulosa decalvans" -MONDO:0010637 oboInOwl:hasRelatedSynonym "KFSDX" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010637 oboInOwl:hasRelatedSynonym "keratosis follicularis SPINULOSA decalvans, X-linked" +MONDO:0010637 oboInOwl:hasRelatedSynonym "KFSDX" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015737 oboInOwl:hasRelatedSynonym "typical congenital nemaline myopathy" MONDO:0060664 oboInOwl:hasRelatedSynonym "NEDMCR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCBITaxon:72294 oboInOwl:hasRelatedSynonym "Campylobacter group" http://purl.obolibrary.org/obo/ncbitaxon#synonym @@ -66239,8 +66217,8 @@ MONDO:0014336 oboInOwl:hasRelatedSynonym "mental retardation, autosomal dominant MONDO:0014336 oboInOwl:hasRelatedSynonym "intellectual disability, autosomal dominant 23" MONDO:0014336 oboInOwl:hasRelatedSynonym "autosomal dominant non-syndromic intellectual disability 23" MONDO:0013273 oboInOwl:hasRelatedSynonym "chromosome 16p13.3 duplication" -MONDO:0013273 oboInOwl:hasRelatedSynonym "16p13.3 duplication" MONDO:0013273 oboInOwl:hasRelatedSynonym "interstitial 16p13.3 duplication" +MONDO:0013273 oboInOwl:hasRelatedSynonym "16p13.3 duplication" MONDO:0010887 oboInOwl:hasRelatedSynonym "anterior cervical hypertrichosis" MONDO:0010887 oboInOwl:hasRelatedSynonym "hypertrichosis, anterior cervical" MONDO:0010887 oboInOwl:hasRelatedSynonym "hairy throat" @@ -66339,10 +66317,10 @@ CHEBI:30563 oboInOwl:hasRelatedSynonym "SiO2" CHEBI:30563 oboInOwl:hasRelatedSynonym "Kieselsaeureanhydrid" CHEBI:30563 oboInOwl:hasRelatedSynonym "silicic anhydride" CHEBI:30563 oboInOwl:hasRelatedSynonym "silica" +MONDO:0010889 oboInOwl:hasRelatedSynonym "arterial dissection with lentiginosis" MONDO:0033204 oboInOwl:hasRelatedSynonym "CILD37" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033204 oboInOwl:hasRelatedSynonym "ciliary dyskinesia, primary, 37, with or without situs inversus" MONDO:0033204 oboInOwl:hasRelatedSynonym "primary ciliary dyskinesia 37" -MONDO:0010889 oboInOwl:hasRelatedSynonym "arterial dissection with lentiginosis" MONDO:0032626 oboInOwl:hasRelatedSynonym "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22" MONDO:0032626 oboInOwl:hasRelatedSynonym "MC1DN22" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009560 oboInOwl:hasRelatedSynonym "Manitoba Trichoanal syndrome" @@ -66426,8 +66404,8 @@ MONDO:0014892 oboInOwl:hasRelatedSynonym "intellectual disability, autosomal dom MONDO:0000995 oboInOwl:hasRelatedSynonym "genetic periodic paralysis" MONDO:0000995 oboInOwl:hasRelatedSynonym "normokalemic periodic paralysis" MONDO:0000995 oboInOwl:hasRelatedSynonym "paralysis, normokalemic periodic" -MONDO:0000995 oboInOwl:hasRelatedSynonym "periodic paralysis, familial" MONDO:0000995 oboInOwl:hasRelatedSynonym "periodic paralyses, normokalemic" +MONDO:0000995 oboInOwl:hasRelatedSynonym "periodic paralysis, familial" MONDO:0000995 oboInOwl:hasRelatedSynonym "periodic paralysis, normokalemic" MONDO:0000995 oboInOwl:hasRelatedSynonym "paralyses, normokalemic periodic" MONDO:0000995 oboInOwl:hasRelatedSynonym "paralysis, familial periodic" @@ -66741,10 +66719,10 @@ MONDO:0009290 oboInOwl:hasRelatedSynonym "glycogen storage disease 2" MONDO:0009290 oboInOwl:hasRelatedSynonym "glycogen storage disease due to acid maltase deficiency" MONDO:0009290 oboInOwl:hasRelatedSynonym "deficiency of lysosomal alpha-glucosidase" MONDO:0009290 oboInOwl:hasRelatedSynonym "acid maltase deficiency disease" -MONDO:0010029 oboInOwl:hasRelatedSynonym "heterotaxy, visceral, 5, autosomal" -MONDO:0010029 oboInOwl:hasRelatedSynonym "SIV" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010029 oboInOwl:hasRelatedSynonym "HTX5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010029 oboInOwl:hasRelatedSynonym "situs inversus viscerum" +MONDO:0010029 oboInOwl:hasRelatedSynonym "HTX5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010029 oboInOwl:hasRelatedSynonym "SIV" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010029 oboInOwl:hasRelatedSynonym "heterotaxy, visceral, 5, autosomal" MONDO:0013599 oboInOwl:hasRelatedSynonym "candidiasis, familial chronic mucocutaneous, autosomal dominant" MONDO:0013599 oboInOwl:hasRelatedSynonym "candidiasis familial, 7" MONDO:0013599 oboInOwl:hasRelatedSynonym "IMD31C" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -66785,6 +66763,9 @@ CHEBI:35471 oboInOwl:hasRelatedSynonym "psychoactive drugs" CHEBI:35471 oboInOwl:hasRelatedSynonym "psychoactive agent" MONDO:0002308 oboInOwl:hasRelatedSynonym "GPC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014723 oboInOwl:hasRelatedSynonym "YUAN-Harel-Lupski syndrome" +NCBITaxon:7898 oboInOwl:hasRelatedSynonym "Osteichthyes" http://purl.obolibrary.org/obo/ncbitaxon#in_part +NCBITaxon:7898 oboInOwl:hasRelatedSynonym "Actinopterygi" http://purl.obolibrary.org/obo/ncbitaxon#synonym +NCBITaxon:7898 oboInOwl:hasRelatedSynonym "bony fishes" http://purl.obolibrary.org/obo/ncbitaxon#blast_name NCBITaxon:1648 oboInOwl:hasRelatedSynonym "Erysipelothrix murisepticus" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:1648 oboInOwl:hasRelatedSynonym "Erysipelothrix erysipeloides" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:1648 oboInOwl:hasRelatedSynonym "Bacillus insidiosus" http://purl.obolibrary.org/obo/ncbitaxon#synonym @@ -66792,9 +66773,6 @@ NCBITaxon:1648 oboInOwl:hasRelatedSynonym "Bacterium rhusiopathiae" http://purl. NCBITaxon:1648 oboInOwl:hasRelatedSynonym "Bacillus rhusiopathiae suis" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:1648 oboInOwl:hasRelatedSynonym "Erysipelothrix porci" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:1648 oboInOwl:hasRelatedSynonym "Erysipelothrix insidiosa" http://purl.obolibrary.org/obo/ncbitaxon#synonym -NCBITaxon:7898 oboInOwl:hasRelatedSynonym "Osteichthyes" http://purl.obolibrary.org/obo/ncbitaxon#in_part -NCBITaxon:7898 oboInOwl:hasRelatedSynonym "Actinopterygi" http://purl.obolibrary.org/obo/ncbitaxon#synonym -NCBITaxon:7898 oboInOwl:hasRelatedSynonym "bony fishes" http://purl.obolibrary.org/obo/ncbitaxon#blast_name MONDO:0012731 oboInOwl:hasRelatedSynonym "EL1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012731 oboInOwl:hasRelatedSynonym "elliptocytosis, Rhesus-linked type" MONDO:0012731 oboInOwl:hasRelatedSynonym "4.1- trait" @@ -67102,12 +67080,12 @@ CHEBI:37581 oboInOwl:hasRelatedSynonym "a 1,4-lactone" CHEBI:37581 oboInOwl:hasRelatedSynonym "gamma-lactona" CHEBI:37581 oboInOwl:hasRelatedSynonym "1,4-lactones" MONDO:0011963 oboInOwl:hasRelatedSynonym "Cerebellooculorenal syndrome 2" -MONDO:0010091 oboInOwl:hasRelatedSynonym "muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death" MONDO:0010091 oboInOwl:hasRelatedSynonym "CISS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010091 oboInOwl:hasRelatedSynonym "Crisponi/cold-induced sweating syndrome 1" MONDO:0010091 oboInOwl:hasRelatedSynonym "cold-induced sweating syndrome 1" MONDO:0010091 oboInOwl:hasRelatedSynonym "Sohar-Crisponi syndrome" MONDO:0010091 oboInOwl:hasRelatedSynonym "CRISPONI/cold-induced sweating syndrome 1" +MONDO:0010091 oboInOwl:hasRelatedSynonym "muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death" MONDO:0023642 oboInOwl:hasRelatedSynonym "Weber Syndrome" MONDO:0023642 oboInOwl:hasRelatedSynonym "Midbrain stroke syndromes" MONDO:0008717 oboInOwl:hasRelatedSynonym "acromesomelic dysplasia Hunter Thompson type" @@ -67242,8 +67220,8 @@ CHEBI:2679 oboInOwl:hasRelatedSynonym "Amphetamin" CHEBI:2679 oboInOwl:hasRelatedSynonym "1-Phenylpropan-2-amin" CHEBI:2679 oboInOwl:hasRelatedSynonym "Amfetamine" CHEBI:2679 oboInOwl:hasRelatedSynonym "amfetamina" -CHEBI:2679 oboInOwl:hasRelatedSynonym "rac-amphetamine" CHEBI:2679 oboInOwl:hasRelatedSynonym "1-phenyl-2-aminopropane" +CHEBI:2679 oboInOwl:hasRelatedSynonym "rac-amphetamine" CHEBI:2679 oboInOwl:hasRelatedSynonym "amphetaminium" CHEBI:2679 oboInOwl:hasRelatedSynonym "beta-Phenylisopropylamin" CHEBI:2679 oboInOwl:hasRelatedSynonym "beta-phenylisopropylamine" @@ -67291,7 +67269,6 @@ MONDO:0007154 oboInOwl:hasRelatedSynonym "cerebral arteriovenous malformations" MONDO:0007154 oboInOwl:hasRelatedSynonym "intracranial AVM" MONDO:0007154 oboInOwl:hasRelatedSynonym "Bavm" MONDO:0007154 oboInOwl:hasRelatedSynonym "intracranial hemorrhage in brain arteriovenous malformations, susceptibility to" -CHEBI:167559 oboInOwl:hasRelatedSynonym "glycans" MONDO:0014043 oboInOwl:hasRelatedSynonym "primary autosomal recessive microcephaly 10" MONDO:0014043 oboInOwl:hasRelatedSynonym "MCPH10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014043 oboInOwl:hasRelatedSynonym "microcephaly 10, primary, autosomal recessive" @@ -67300,6 +67277,7 @@ MONDO:0007330 oboInOwl:hasRelatedSynonym "congenital pseudoarthrosis of the clav MONDO:0010403 oboInOwl:hasRelatedSynonym "ALDS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010403 oboInOwl:hasRelatedSynonym "Woolf syndrome" MONDO:0010403 oboInOwl:hasRelatedSynonym "ADFN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +CHEBI:167559 oboInOwl:hasRelatedSynonym "glycans" NCBITaxon:2560602 oboInOwl:hasRelatedSynonym "Mumps rubulavirus" http://purl.obolibrary.org/obo/ncbitaxon#synonym GO:0004563 oboInOwl:hasRelatedSynonym "N-acetylhexosaminidase activity" GO:0004563 oboInOwl:hasRelatedSynonym "hexosaminidase A" @@ -67323,8 +67301,8 @@ MONDO:0006592 oboInOwl:hasRelatedSynonym "digitate dermatosis" MONDO:0054550 oboInOwl:hasRelatedSynonym "osteonecrosis of femoral head" MONDO:0054550 oboInOwl:hasRelatedSynonym "ANFH1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054550 oboInOwl:hasRelatedSynonym "Femoral head, avascular necrosis of" -MONDO:0054550 oboInOwl:hasRelatedSynonym "ischemic necrosis of femoral head" MONDO:0054550 oboInOwl:hasRelatedSynonym "femoral head, aseptic necrosis of" +MONDO:0054550 oboInOwl:hasRelatedSynonym "ischemic necrosis of femoral head" MONDO:0009792 oboInOwl:hasRelatedSynonym "unusual facies, digital abnormalities, and ichthyosis" MONDO:0009792 oboInOwl:hasRelatedSynonym "ichthyosis tapered fingers midline groove up" MONDO:0009792 oboInOwl:hasRelatedSynonym "oral and digital anomalies with ichthyosis" @@ -67526,10 +67504,10 @@ MONDO:0014035 oboInOwl:hasRelatedSynonym "CTNNB1-related intellectual disability MONDO:0014035 oboInOwl:hasRelatedSynonym "mental retardation, autosomal dominant 19" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014035 oboInOwl:hasRelatedSynonym "intellectual disability, autosomal dominant 19" MONDO:0014035 oboInOwl:hasRelatedSynonym "autosomal dominant non-syndromic intellectual disability 19" -MONDO:0060550 oboInOwl:hasRelatedSynonym "polydactyly, postaxial, type A7" -MONDO:0060550 oboInOwl:hasRelatedSynonym "PAPA7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:35724 oboInOwl:hasRelatedSynonym "carbohydrate sulphates" CHEBI:35724 oboInOwl:hasRelatedSynonym "carbohydrate sulfates" +MONDO:0060550 oboInOwl:hasRelatedSynonym "polydactyly, postaxial, type A7" +MONDO:0060550 oboInOwl:hasRelatedSynonym "PAPA7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:25703 oboInOwl:hasRelatedSynonym "organophosphate ester" CHEBI:25703 oboInOwl:hasRelatedSynonym "organic phosphate ester" CHEBI:25703 oboInOwl:hasRelatedSynonym "organophosphate esters" @@ -67613,8 +67591,8 @@ CHEBI:15365 oboInOwl:hasRelatedSynonym "acide acetylsalicylique" CHEBI:15365 oboInOwl:hasRelatedSynonym "o-acetoxybenzoic acid" CHEBI:15365 oboInOwl:hasRelatedSynonym "Acetylsalicylsaeure" CHEBI:15365 oboInOwl:hasRelatedSynonym "acidum acetylsalicylicum" -CHEBI:15365 oboInOwl:hasRelatedSynonym "acide 2-(acetyloxy)benzoique" CHEBI:15365 oboInOwl:hasRelatedSynonym "Azetylsalizylsaeure" +CHEBI:15365 oboInOwl:hasRelatedSynonym "acide 2-(acetyloxy)benzoique" CHEBI:15365 oboInOwl:hasRelatedSynonym "salicylic acid acetate" CHEBI:15365 oboInOwl:hasRelatedSynonym "o-carboxyphenyl acetate" CHEBI:15365 oboInOwl:hasRelatedSynonym "2-(ACETYLOXY)BENZOIC ACID" @@ -67665,7 +67643,6 @@ MONDO:0009634 oboInOwl:hasRelatedSynonym "familial microtia with meatal atresia MONDO:0009634 oboInOwl:hasRelatedSynonym "familial microtia and meatal atresia" MONDO:0009634 oboInOwl:hasRelatedSynonym "microtia, meatal atresia and conductive deafness" MONDO:0009634 oboInOwl:hasRelatedSynonym "Gupta Patton syndrome" -MONDO:0044281 oboInOwl:hasRelatedSynonym "C3HEX, ability to smell" MONDO:0014660 oboInOwl:hasRelatedSynonym "MCPH15" http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCBITaxon:6210 oboInOwl:hasRelatedSynonym "Echinococcus granulosus sensu stricto" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:6210 oboInOwl:hasRelatedSynonym "Echinococcus granulosus sheep strain" http://purl.obolibrary.org/obo/ncbitaxon#synonym @@ -67862,14 +67839,14 @@ MONDO:0019332 oboInOwl:hasRelatedSynonym "punctate palmoplantar keratoderma type MONDO:0019332 oboInOwl:hasRelatedSynonym "type I punctate palmoplantar keratoderma" MONDO:0008727 oboInOwl:hasRelatedSynonym "3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF" MONDO:0008727 oboInOwl:hasRelatedSynonym "adrenal hyperplasia 2" -MONDO:0008727 oboInOwl:hasRelatedSynonym "adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency" -MONDO:0008727 oboInOwl:hasRelatedSynonym "3-Beta-HSD deficiency" -MONDO:0008727 oboInOwl:hasRelatedSynonym "3b-hydroxysteroid dehydrogenase deficiency" +MONDO:0008727 oboInOwl:hasRelatedSynonym "adrenal hyperplasia II" MONDO:0008727 oboInOwl:hasRelatedSynonym "3-Beta-hydroxysteroid dehydrogenase deficiency" -MONDO:0008727 oboInOwl:hasRelatedSynonym "type II 3-beta-hydroxysteroid dehydrogenase deficiency" MONDO:0008727 oboInOwl:hasRelatedSynonym "adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency" +MONDO:0008727 oboInOwl:hasRelatedSynonym "3b-hydroxysteroid dehydrogenase deficiency" +MONDO:0008727 oboInOwl:hasRelatedSynonym "3-Beta-HSD deficiency" MONDO:0008727 oboInOwl:hasRelatedSynonym "HSD3B deficiency" -MONDO:0008727 oboInOwl:hasRelatedSynonym "adrenal hyperplasia II" +MONDO:0008727 oboInOwl:hasRelatedSynonym "type II 3-beta-hydroxysteroid dehydrogenase deficiency" +MONDO:0008727 oboInOwl:hasRelatedSynonym "adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency" MONDO:0011136 oboInOwl:hasRelatedSynonym "factor 5 Quebec" MONDO:0011136 oboInOwl:hasRelatedSynonym "bleeding disorder, platelet-type, 5" MONDO:0011136 oboInOwl:hasRelatedSynonym "QPD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -67991,8 +67968,8 @@ MONDO:0008780 oboInOwl:hasRelatedSynonym "ALS, juvenile" MONDO:0011730 oboInOwl:hasRelatedSynonym "fumarate hydratase deficiency" MONDO:0011730 oboInOwl:hasRelatedSynonym "FMRD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010960 oboInOwl:hasRelatedSynonym "Pcdh3" -MONDO:0006228 oboInOwl:hasRelatedSynonym "papillary stomach adenocarcinoma" MONDO:0012451 oboInOwl:hasRelatedSynonym "esophagitis, eosinophilic" +MONDO:0006228 oboInOwl:hasRelatedSynonym "papillary stomach adenocarcinoma" MONDO:0004067 oboInOwl:hasRelatedSynonym "gallbladder mucinous carcinoma" MONDO:0005013 oboInOwl:hasRelatedSynonym "DDCHS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009604 oboInOwl:hasRelatedSynonym "NADPH-dependent methemoglobin reductase deficiency" @@ -68105,9 +68082,9 @@ MONDO:0018955 oboInOwl:hasRelatedSynonym "respiratory papillomatosis, recurrent" MONDO:0018955 oboInOwl:hasRelatedSynonym "juvenile laryngeal papilloma" MONDO:0018955 oboInOwl:hasRelatedSynonym "adult-onset recurrent respiratory papillomatosis (type)" MONDO:0018955 oboInOwl:hasRelatedSynonym "JORRP (type)" +CHEBI:15366 oboInOwl:hasRelatedSynonym "acide acetique" CHEBI:15366 oboInOwl:hasRelatedSynonym "Ethanoic acid" CHEBI:15366 oboInOwl:hasRelatedSynonym "E-260" -CHEBI:15366 oboInOwl:hasRelatedSynonym "acide acetique" CHEBI:15366 oboInOwl:hasRelatedSynonym "Essigsaeure" CHEBI:15366 oboInOwl:hasRelatedSynonym "MeCOOH" CHEBI:15366 oboInOwl:hasRelatedSynonym "AcOH" @@ -68239,9 +68216,9 @@ MONDO:0044765 oboInOwl:hasRelatedSynonym "SRNS - steroid-resistant nephrotic syn MONDO:0044765 oboInOwl:hasRelatedSynonym "NPHS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044765 oboInOwl:hasRelatedSynonym "steroid-unresponsive nephrotic syndrome" MONDO:0010095 oboInOwl:hasRelatedSynonym "tapetoretinal degeneration with ataxia" +MONDO:0006424 oboInOwl:hasRelatedSynonym "SOFTTISSUE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011041 oboInOwl:hasRelatedSynonym "ectodermal dysplasia, hair/Tooth type" MONDO:0011041 oboInOwl:hasRelatedSynonym "ectodermal dysplasia with natal teeth Turnpenny type" -MONDO:0006424 oboInOwl:hasRelatedSynonym "SOFTTISSUE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007982 oboInOwl:hasRelatedSynonym "metaphyseal chondrodysplasia murk Jansen type" MONDO:0007982 oboInOwl:hasRelatedSynonym "metaphyseal chondrodysplasia, murk Jansen type" MONDO:0007982 oboInOwl:hasRelatedSynonym "Jansen's metaphyseal chondrodysplasia" @@ -68288,6 +68265,7 @@ MONDO:0037872 oboInOwl:hasRelatedSynonym "Bordetella Infections" MONDO:0037872 oboInOwl:hasRelatedSynonym "Bordetella infection" MONDO:0037872 oboInOwl:hasRelatedSynonym "Bordetella Infection" MONDO:0037872 oboInOwl:hasRelatedSynonym "Bordetellosis" +MONDO:0022338 oboInOwl:hasRelatedSynonym "anaplastic lymphoma kinase positive histiocytosis" MONDO:0012549 oboInOwl:hasRelatedSynonym "spinocerebellar ataxia, autosomal recessive 8" MONDO:0012549 oboInOwl:hasRelatedSynonym "cerebellar ataxia, autosomal recessive, type 1" MONDO:0012549 oboInOwl:hasRelatedSynonym "spinocerebellar ataxia autosomal recessive 8" @@ -68296,7 +68274,6 @@ MONDO:0012549 oboInOwl:hasRelatedSynonym "recessive ataxia of Beauce" MONDO:0012549 oboInOwl:hasRelatedSynonym "autosomal recessive ataxia Beauce type" MONDO:0012549 oboInOwl:hasRelatedSynonym "ataxia, recessive, of Beauce" MONDO:0012549 oboInOwl:hasRelatedSynonym "SYNE1-related autosomal recessive cerebellar ataxia" -MONDO:0022338 oboInOwl:hasRelatedSynonym "anaplastic lymphoma kinase positive histiocytosis" GO:0060090 oboInOwl:hasRelatedSynonym "protein-containing complex scaffold activity" GO:0060090 oboInOwl:hasRelatedSynonym "protein complex scaffold activity" MONDO:0013884 oboInOwl:hasRelatedSynonym "HMN5B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -68348,10 +68325,10 @@ MONDO:0010778 oboInOwl:hasRelatedSynonym "cyclic vomiting syndrome-plus" MONDO:0010778 oboInOwl:hasRelatedSynonym "Cvs-plus" MONDO:0012978 oboInOwl:hasRelatedSynonym "ciliary dyskinesia, primary, 11, without situs inversus" MONDO:0012978 oboInOwl:hasRelatedSynonym "ciliary dyskinesia, primary, 11" -MONDO:0009458 oboInOwl:hasRelatedSynonym "SIOD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009458 oboInOwl:hasRelatedSynonym "IMMUNOOSSEOUS dysplasia, Schimke type" MONDO:0009458 oboInOwl:hasRelatedSynonym "spondyloepiphyseal dysplasia nephrotic syndrome" +MONDO:0009458 oboInOwl:hasRelatedSynonym "SIOD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009458 oboInOwl:hasRelatedSynonym "Schimke IMMUNOOSSEOUS dysplasia" +MONDO:0009458 oboInOwl:hasRelatedSynonym "IMMUNOOSSEOUS dysplasia, Schimke type" MONDO:0009458 oboInOwl:hasRelatedSynonym "Schimke Immunoosseous dysplasia" MONDO:0007761 oboInOwl:hasRelatedSynonym "carbohydrate-inducible hyperlipemia" MONDO:0007761 oboInOwl:hasRelatedSynonym "carbohydrate inducible hyperlipemia" @@ -68363,15 +68340,15 @@ MONDO:0007414 oboInOwl:hasRelatedSynonym "osteolysis, massive" MONDO:0007414 oboInOwl:hasRelatedSynonym "cystic angiomatosis of bone, diffuse" MONDO:0007414 oboInOwl:hasRelatedSynonym "cystic angiomatosis of bone diffuse" MONDO:0007414 oboInOwl:hasRelatedSynonym "osteolysis massive" -MONDO:0010555 oboInOwl:hasRelatedSynonym "CDPX1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010555 oboInOwl:hasRelatedSynonym "CPXR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010555 oboInOwl:hasRelatedSynonym "chondrodysplasia punctata 1 X-linked recessive" -MONDO:0010555 oboInOwl:hasRelatedSynonym "Cpxr" -MONDO:0010555 oboInOwl:hasRelatedSynonym "arylsulfatase E deficiency" MONDO:0010555 oboInOwl:hasRelatedSynonym "chondrodysplasia punctata, brachytelephalangic" +MONDO:0010555 oboInOwl:hasRelatedSynonym "chondrodysplasia punctata 1 X-linked recessive" +MONDO:0010555 oboInOwl:hasRelatedSynonym "CPXR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010555 oboInOwl:hasRelatedSynonym "chondrodysplasia punctata, Brachytelephalangic" -MONDO:0010555 oboInOwl:hasRelatedSynonym "chondrodysplasia punctata brachytelephalangic" +MONDO:0010555 oboInOwl:hasRelatedSynonym "CDPX1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010555 oboInOwl:hasRelatedSynonym "chondrodysplasia punctata 1, X-linked recessive" +MONDO:0010555 oboInOwl:hasRelatedSynonym "Cpxr" +MONDO:0010555 oboInOwl:hasRelatedSynonym "chondrodysplasia punctata brachytelephalangic" +MONDO:0010555 oboInOwl:hasRelatedSynonym "arylsulfatase E deficiency" MONDO:0022916 oboInOwl:hasRelatedSynonym "Cowchock Wapner Kurtz syndrome" MONDO:0049221 oboInOwl:hasRelatedSynonym "MYP26" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004245 oboInOwl:hasRelatedSynonym "brain ependymoma" @@ -68631,10 +68608,10 @@ MONDO:0012231 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth disease, axonal, a MONDO:0012231 oboInOwl:hasRelatedSynonym "autosomal dominant Charcot-Marie-Tooth disease type 2A2" MONDO:0012231 oboInOwl:hasRelatedSynonym "hereditary motor and sensory neuropathy IIa2" MONDO:0012231 oboInOwl:hasRelatedSynonym "Charcot-Marie-Tooth neuropathy, type 2A2" -MONDO:0010094 oboInOwl:hasRelatedSynonym "Synspondylism, congenital" MONDO:0010094 oboInOwl:hasRelatedSynonym "scoliosis, congenital, with unilateral unsegmented Bar" MONDO:0010094 oboInOwl:hasRelatedSynonym "Synspondylism congenital" MONDO:0010094 oboInOwl:hasRelatedSynonym "scoliosis, congenital with unilateral unsegmented bar" +MONDO:0010094 oboInOwl:hasRelatedSynonym "Synspondylism, congenital" HP:0001660 oboInOwl:hasRelatedSynonym "Persistant truncus arteriosus" MONDO:0009996 oboInOwl:hasRelatedSynonym "rhizomelic syndrome" MONDO:0009996 oboInOwl:hasRelatedSynonym "familial rhizomelic dysplasia" @@ -69093,8 +69070,8 @@ MONDO:0007415 oboInOwl:hasRelatedSynonym "MC3DN1" http://purl.obolibrary.org/obo MONDO:0007415 oboInOwl:hasRelatedSynonym "Complex 3 mitochondrial respiratory chain deficiency" MONDO:0007415 oboInOwl:hasRelatedSynonym "mitochondrial complex III deficiency" MONDO:0007415 oboInOwl:hasRelatedSynonym "mitochondrial Complex 3 deficiency, nuclear type 1" -MONDO:0049222 oboInOwl:hasRelatedSynonym "mental retardation, X-linked 107" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0049222 oboInOwl:hasRelatedSynonym "MRX107" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0049222 oboInOwl:hasRelatedSynonym "mental retardation, X-linked 107" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0009795 oboInOwl:hasRelatedSynonym "Ofds 9" MONDO:0009795 oboInOwl:hasRelatedSynonym "oral facial digital syndrome type 9" MONDO:0009795 oboInOwl:hasRelatedSynonym "orofaciodigital syndrome 9" @@ -69140,13 +69117,13 @@ CHEBI:30985 oboInOwl:hasRelatedSynonym "gamma,gamma'-bipyridyl" MONDO:0000241 oboInOwl:hasRelatedSynonym "enlarged heart and poor heart function" MONDO:0000241 oboInOwl:hasRelatedSynonym "congestive cardiomyopathy due to selenium deficiency" MONDO:0008729 oboInOwl:hasRelatedSynonym "adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency" -MONDO:0008729 oboInOwl:hasRelatedSynonym "P450C11B1 deficiency" MONDO:0008729 oboInOwl:hasRelatedSynonym "adrenal hyperplasia IV" -MONDO:0008729 oboInOwl:hasRelatedSynonym "steroid 11-Beta-Hydroxylase deficiency" MONDO:0008729 oboInOwl:hasRelatedSynonym "11-Beta-Hydroxylase deficiency" -MONDO:0008729 oboInOwl:hasRelatedSynonym "adrenal hyperplasia hypertensive form" -MONDO:0008729 oboInOwl:hasRelatedSynonym "adrenal hyperplasia, hypertensive form" +MONDO:0008729 oboInOwl:hasRelatedSynonym "steroid 11-Beta-Hydroxylase deficiency" +MONDO:0008729 oboInOwl:hasRelatedSynonym "P450C11B1 deficiency" MONDO:0008729 oboInOwl:hasRelatedSynonym "adrenal hyperplasia 4" +MONDO:0008729 oboInOwl:hasRelatedSynonym "adrenal hyperplasia, hypertensive form" +MONDO:0008729 oboInOwl:hasRelatedSynonym "adrenal hyperplasia hypertensive form" MONDO:0012579 oboInOwl:hasRelatedSynonym "pulmonary alveolar proteinosis acquired" MONDO:0012579 oboInOwl:hasRelatedSynonym "pulmonary alveolar proteinosis autoimmune" MONDO:0012579 oboInOwl:hasRelatedSynonym "pulmonary alveolar lipoproteinosis, acquired" @@ -69262,16 +69239,16 @@ MONDO:0002918 oboInOwl:hasRelatedSynonym "CCM" http://purl.obolibrary.org/obo/mo MONDO:0010786 oboInOwl:hasRelatedSynonym "diarrhea, chronic, with villous atrophy" MONDO:0011732 oboInOwl:hasRelatedSynonym "digital arthropathy-brachydactyly, familial" MONDO:0011732 oboInOwl:hasRelatedSynonym "FDAB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010962 oboInOwl:hasRelatedSynonym "nonepidermolytic palmoplantar keratoderma" -MONDO:0010962 oboInOwl:hasRelatedSynonym "tylosis" -MONDO:0010962 oboInOwl:hasRelatedSynonym "keratoderma, nonepidermolytic palmoplantar" +MONDO:0010962 oboInOwl:hasRelatedSynonym "PPK diffusa circumscripta" +MONDO:0010962 oboInOwl:hasRelatedSynonym "Unna-Thost palmoplantar keratoderma" MONDO:0010962 oboInOwl:hasRelatedSynonym "PPKNE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010962 oboInOwl:hasRelatedSynonym "Thost-Unna palmoplantar keratoderma" -MONDO:0010962 oboInOwl:hasRelatedSynonym "diffuse NEPPK" MONDO:0010962 oboInOwl:hasRelatedSynonym "Thost-Unna disease" -MONDO:0010962 oboInOwl:hasRelatedSynonym "Unna-Thost palmoplantar keratoderma" -MONDO:0010962 oboInOwl:hasRelatedSynonym "PPK diffusa circumscripta" -MONDO:0010962 oboInOwl:hasRelatedSynonym "NEPPK" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010962 oboInOwl:hasRelatedSynonym "diffuse NEPPK" +MONDO:0010962 oboInOwl:hasRelatedSynonym "Unna-Thost syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010962 oboInOwl:hasRelatedSynonym "Thost-Unna palmoplantar keratoderma" +MONDO:0010962 oboInOwl:hasRelatedSynonym "Thost-Unna syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010962 oboInOwl:hasRelatedSynonym "tylosis" +MONDO:0010962 oboInOwl:hasRelatedSynonym "keratoderma, nonepidermolytic palmoplantar" MONDO:0060555 oboInOwl:hasRelatedSynonym "kynureninase deficiency, complete" MONDO:0060555 oboInOwl:hasRelatedSynonym "congenital NAD deficiency disorder 2" MONDO:0060555 oboInOwl:hasRelatedSynonym "VCRL2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -69756,21 +69733,20 @@ MONDO:0012454 oboInOwl:hasRelatedSynonym "alcohol intolerance" MONDO:0012454 oboInOwl:hasRelatedSynonym "Hangover, susceptibility to" MONDO:0012454 oboInOwl:hasRelatedSynonym "acute alcohol sensitivity" MONDO:0044254 oboInOwl:hasRelatedSynonym "dermatoglyphics--hypothenar radial arch" -CHEBI:18085 oboInOwl:hasRelatedSynonym "glycosaminoglycans" -CHEBI:18085 oboInOwl:hasRelatedSynonym "glicosaminoglicano" -CHEBI:18085 oboInOwl:hasRelatedSynonym "glycosaminoglycane" -CHEBI:18085 oboInOwl:hasRelatedSynonym "Glykosaminoglykan" MONDO:0013506 oboInOwl:hasRelatedSynonym "schizophrenia susceptibility locus, chromosome 7Q36.3-related" MONDO:0013506 oboInOwl:hasRelatedSynonym "chromosome 7Q36.3 Duplication syndrome, 362-Kb" MONDO:0007471 oboInOwl:hasRelatedSynonym "DHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007471 oboInOwl:hasRelatedSynonym "drusen, radial, autosomal dominant" MONDO:0007471 oboInOwl:hasRelatedSynonym "familial drusen" +CHEBI:18085 oboInOwl:hasRelatedSynonym "glycosaminoglycans" +CHEBI:18085 oboInOwl:hasRelatedSynonym "glicosaminoglicano" +CHEBI:18085 oboInOwl:hasRelatedSynonym "glycosaminoglycane" +CHEBI:18085 oboInOwl:hasRelatedSynonym "Glykosaminoglykan" MONDO:0013895 oboInOwl:hasRelatedSynonym "AOS3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016085 oboInOwl:hasRelatedSynonym "Cole Carpenter syndrome" MONDO:0019461 oboInOwl:hasRelatedSynonym "BPLL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018264 oboInOwl:hasRelatedSynonym "skin/hair/eye pigmentation 4, fair/dark skin" MONDO:0018264 oboInOwl:hasRelatedSynonym "albinism, oculocutaneous, type VI" -MONDO:0018264 oboInOwl:hasRelatedSynonym "skin/hair/eye pigmentation, variation In, 4" MONDO:0017010 oboInOwl:hasRelatedSynonym "trisomy Xq" MONDO:0017010 oboInOwl:hasRelatedSynonym "Xq trisomy" MONDO:0017010 oboInOwl:hasRelatedSynonym "partial trisomy Xq" @@ -69818,10 +69794,10 @@ MONDO:0010566 oboInOwl:hasRelatedSynonym "cone dystrophy X-linked 1" MONDO:0010566 oboInOwl:hasRelatedSynonym "cone dystrophy 1, X-linked" MONDO:0010566 oboInOwl:hasRelatedSynonym "cone-rod dystrophy X-linked 1" MONDO:0010566 oboInOwl:hasRelatedSynonym "cone-rod dystrophy, X-linked, 1" +MONDO:0016493 oboInOwl:hasRelatedSynonym "variant of Guillain-Barré syndrome" MONDO:0012057 oboInOwl:hasRelatedSynonym "susceptibility to legionnaire disease" MONDO:0012057 oboInOwl:hasRelatedSynonym "Legionella infection" MONDO:0012057 oboInOwl:hasRelatedSynonym "legionnaire's disease" -MONDO:0016493 oboInOwl:hasRelatedSynonym "variant of Guillain-Barré syndrome" MONDO:0011170 oboInOwl:hasRelatedSynonym "limb-girdle muscular dystrophy, type 2G" MONDO:0018958 oboInOwl:hasRelatedSynonym "congenital rod disease" MONDO:0018958 oboInOwl:hasRelatedSynonym "Rod body disease" @@ -69845,6 +69821,7 @@ MONDO:0008260 oboInOwl:hasRelatedSynonym "poikiloderma, hereditary acrokeratotic MONDO:0008260 oboInOwl:hasRelatedSynonym "poikiloderma, congenital, with bullae, Weary type" MONDO:0008260 oboInOwl:hasRelatedSynonym "congenital bullous poikiloderma" MONDO:0008260 oboInOwl:hasRelatedSynonym "KINDLER syndrome" +CHEBI:75763 oboInOwl:hasRelatedSynonym "eukaryotic metabolites" MONDO:0009189 oboInOwl:hasRelatedSynonym "epiphyseal dysplasia, multiple, 4" MONDO:0009189 oboInOwl:hasRelatedSynonym "multiple epiphyseal dysplasia, autosomal recessive" MONDO:0009189 oboInOwl:hasRelatedSynonym "multiple epiphyseal dysplasia 4" @@ -69852,7 +69829,6 @@ MONDO:0009189 oboInOwl:hasRelatedSynonym "multiple epiphyseal dysplasia with Bil MONDO:0009189 oboInOwl:hasRelatedSynonym "multiple epiphyseal dysplasia with double-layered patella" MONDO:0009189 oboInOwl:hasRelatedSynonym "epiphyseal dysplasia multiple 4" MONDO:0009189 oboInOwl:hasRelatedSynonym "multiple epiphyseal dysplasia with clubfoot" -CHEBI:75763 oboInOwl:hasRelatedSynonym "eukaryotic metabolites" MONDO:0060627 oboInOwl:hasRelatedSynonym "developmental delay, epilepsy, cerebellar atrophy, and osteopenia" MONDO:0060627 oboInOwl:hasRelatedSynonym "GPIBD15" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007321 oboInOwl:hasRelatedSynonym "chondrodysplasia punctata due to warfarin Teratogenicity" @@ -69954,9 +69930,9 @@ MONDO:0054776 oboInOwl:hasRelatedSynonym "epilepsy, FAMILIAL focal, with variabl MONDO:0010722 oboInOwl:hasRelatedSynonym "retinal dysplasia X-linked" MONDO:0010722 oboInOwl:hasRelatedSynonym "retinal dysplasia, primary" MONDO:0010722 oboInOwl:hasRelatedSynonym "PRD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0002081 oboInOwl:hasRelatedSynonym "musculoskeletal disorder" MONDO:0018477 oboInOwl:hasRelatedSynonym "hyperbilirubinemic encephalopathy" MONDO:0018477 oboInOwl:hasRelatedSynonym "kernicterus spectrum disorder" -MONDO:0002081 oboInOwl:hasRelatedSynonym "musculoskeletal disorder" MONDO:0013193 oboInOwl:hasRelatedSynonym "TTPP2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010828 oboInOwl:hasRelatedSynonym "RP 11" GO:0031410 oboInOwl:hasRelatedSynonym "cytoplasmic, membrane-bounded vesicle" @@ -69992,7 +69968,6 @@ MONDO:0009920 oboInOwl:hasRelatedSynonym "pseudopapilledema, ocular hypotelorism MONDO:0009920 oboInOwl:hasRelatedSynonym "Aoo syndrome" MONDO:0042975 oboInOwl:hasRelatedSynonym "recessive pseudoachondroplasia" MONDO:0042975 oboInOwl:hasRelatedSynonym "spondyloepiphyseal dysplasia pseudoachondroplastic 2" -MONDO:0024583 oboInOwl:hasRelatedSynonym "hernias" NCBITaxon:644 oboInOwl:hasRelatedSynonym "Bacterium hydrophilum" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:644 oboInOwl:hasRelatedSynonym "Bacillus hydrophilus" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:644 oboInOwl:hasRelatedSynonym "Proteus ichthyosmius" http://purl.obolibrary.org/obo/ncbitaxon#synonym @@ -70001,6 +69976,7 @@ NCBITaxon:644 oboInOwl:hasRelatedSynonym "Pseudomonas hydrophila" http://purl.ob NCBITaxon:644 oboInOwl:hasRelatedSynonym "Aeromonas dourgesi" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:644 oboInOwl:hasRelatedSynonym "Proteus hydrophilus" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:644 oboInOwl:hasRelatedSynonym "Aeromonas liquefaciens" http://purl.obolibrary.org/obo/ncbitaxon#synonym +MONDO:0024583 oboInOwl:hasRelatedSynonym "hernias" MONDO:0024973 oboInOwl:hasRelatedSynonym "fever, Fog" MONDO:0024973 oboInOwl:hasRelatedSynonym "pulmonary adenomatosis, bovine" MONDO:0024973 oboInOwl:hasRelatedSynonym "adenomatosis, bovine pulmonary" @@ -70090,8 +70066,8 @@ MONDO:0000936 oboInOwl:hasRelatedSynonym "meningeal syphilis" MONDO:0000936 oboInOwl:hasRelatedSynonym "syphilitic aseptic meningitis" MONDO:0000936 oboInOwl:hasRelatedSynonym "meningitis, syphilitic" NCBITaxon:693996 oboInOwl:hasRelatedSynonym "Coronavirus" http://purl.obolibrary.org/obo/ncbitaxon#in_part -MONDO:0003005 oboInOwl:hasRelatedSynonym "edema, macular" NCBITaxon:41665 oboInOwl:hasRelatedSynonym "Neopterygi" http://purl.obolibrary.org/obo/ncbitaxon#synonym +MONDO:0003005 oboInOwl:hasRelatedSynonym "edema, macular" MONDO:0010471 oboInOwl:hasRelatedSynonym "Cornelia DE Lange syndrome 5" MONDO:0010471 oboInOwl:hasRelatedSynonym "CDLS5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:1902338 oboInOwl:hasRelatedSynonym "down regulation of morphogenetic apoptosis" @@ -70767,9 +70743,7 @@ MONDO:0009609 oboInOwl:hasRelatedSynonym "methylcobalamin deficiency Cbl G type" MONDO:0009609 oboInOwl:hasRelatedSynonym "homocystinuria due to defect in methylation Cbl g" MONDO:0009609 oboInOwl:hasRelatedSynonym "methylcobalamin deficiency, cblG type" MONDO:0044256 oboInOwl:hasRelatedSynonym "skin/hair/eye pigmentation, variation IN, 5" -MONDO:0044256 oboInOwl:hasRelatedSynonym "skin/hair/eye pigmentation 5, dark/Light eyes" MONDO:0044256 oboInOwl:hasRelatedSynonym "SHEP5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0044256 oboInOwl:hasRelatedSynonym "skin/hair/eye pigmentation 5, dark/fair skin" MONDO:0044256 oboInOwl:hasRelatedSynonym "skin/hair/eye pigmentation 5, Black/nonblack hair" MONDO:0014459 oboInOwl:hasRelatedSynonym "AOS5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014635 oboInOwl:hasRelatedSynonym "MCOPCB10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -70889,17 +70863,17 @@ MONDO:0007628 oboInOwl:hasRelatedSynonym "foveal hypoplasia, congenital nystagmu MONDO:0007628 oboInOwl:hasRelatedSynonym "O Donnell Pappas syndrome" MONDO:0005940 oboInOwl:hasRelatedSynonym "infections, Respirovirus" MONDO:0022468 oboInOwl:hasRelatedSynonym "TAP 2 deficiency" -MONDO:0007286 oboInOwl:hasRelatedSynonym "cataract 30, pulverulent" MONDO:0007286 oboInOwl:hasRelatedSynonym "cataract 30, multiple types" +MONDO:0007286 oboInOwl:hasRelatedSynonym "cataract 30, pulverulent" CHEBI:37176 oboInOwl:hasRelatedSynonym "mononuclear hydrides" CHEBI:37176 oboInOwl:hasRelatedSynonym "mononuclear hydride" +MONDO:0043129 oboInOwl:hasRelatedSynonym "familial opposable triphalangeal thumbs associated with duplication of the big toes" MONDO:0013049 oboInOwl:hasRelatedSynonym "DG1O" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013049 oboInOwl:hasRelatedSynonym "CDG Io" MONDO:0013049 oboInOwl:hasRelatedSynonym "CDGIo" MONDO:0013049 oboInOwl:hasRelatedSynonym "congenital disorder of glycosylation, type Io" MONDO:0013049 oboInOwl:hasRelatedSynonym "DPM3-CDG (CDG-Io)" MONDO:0013049 oboInOwl:hasRelatedSynonym "Cdg1(Dpm3)" -MONDO:0043129 oboInOwl:hasRelatedSynonym "familial opposable triphalangeal thumbs associated with duplication of the big toes" MONDO:0008670 oboInOwl:hasRelatedSynonym "Waardenburg syndrome, type 1" MONDO:0008670 oboInOwl:hasRelatedSynonym "Waardenburg syndrome with dystopia canthorum" MONDO:0008670 oboInOwl:hasRelatedSynonym "Waardenburg's syndrome type 1" @@ -70920,10 +70894,10 @@ MONDO:0008055 oboInOwl:hasRelatedSynonym "myotonia Levior" MONDO:0010921 oboInOwl:hasRelatedSynonym "dermoid cysts, familial frontonasal" MONDO:0013782 oboInOwl:hasRelatedSynonym "pseudohypoaldosteronism, type 2E" MONDO:0013782 oboInOwl:hasRelatedSynonym "pseudohypoaldosteronism, type IIE" +MONDO:0010138 oboInOwl:hasRelatedSynonym "GRD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010138 oboInOwl:hasRelatedSynonym "hyperthyroidism, autoimmune" MONDO:0010138 oboInOwl:hasRelatedSynonym "GRD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010138 oboInOwl:hasRelatedSynonym "Graves disease, susceptibility to, 1" -MONDO:0010138 oboInOwl:hasRelatedSynonym "Grd" MONDO:0000385 oboInOwl:hasRelatedSynonym "gastrointestinal system benign neoplasm" MONDO:0033046 oboInOwl:hasRelatedSynonym "MGORS8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012319 oboInOwl:hasRelatedSynonym "bipolar affective disorder, early-onset" @@ -70999,7 +70973,6 @@ MONDO:0012873 oboInOwl:hasRelatedSynonym "spondylocheirodysplasia, Ehlers-Danlos MONDO:0012873 oboInOwl:hasRelatedSynonym "SCD-EDS" MONDO:0012873 oboInOwl:hasRelatedSynonym "Ehlers-Danlos syndrome, spondylodysplastic type, 3" MONDO:0012873 oboInOwl:hasRelatedSynonym "EDSSPD3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009252 oboInOwl:hasRelatedSynonym "fructosuria, essential" MONDO:0009252 oboInOwl:hasRelatedSynonym "hepatic fructokinase deficiency" MONDO:0010726 oboInOwl:hasRelatedSynonym "Rts" MONDO:0010726 oboInOwl:hasRelatedSynonym "RTT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -71011,12 +70984,6 @@ CHEBI:33304 oboInOwl:hasRelatedSynonym "chalcogen molecular entities" CHEBI:33304 oboInOwl:hasRelatedSynonym "chalcogen compounds" MONDO:0044726 oboInOwl:hasRelatedSynonym "BILAPES" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044726 oboInOwl:hasRelatedSynonym "Birk-Landau-Perez syndrome" -MONDO:0016946 oboInOwl:hasRelatedSynonym "9p duplication" -MONDO:0016946 oboInOwl:hasRelatedSynonym "9p trisomy" -MONDO:0016946 oboInOwl:hasRelatedSynonym "Duplication 9p" -MONDO:0016946 oboInOwl:hasRelatedSynonym "partial trisomy 9p" -MONDO:0016946 oboInOwl:hasRelatedSynonym "chromosome 9p duplication" -MONDO:0016946 oboInOwl:hasRelatedSynonym "trisomy 9p" MONDO:0009135 oboInOwl:hasRelatedSynonym "anemia, congenital dyserythropoietic, type 1" MONDO:0009135 oboInOwl:hasRelatedSynonym "dyserythropoietic Anemia, congenital, type Ia" MONDO:0009135 oboInOwl:hasRelatedSynonym "CDAN1A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -71040,8 +71007,8 @@ MONDO:0017242 oboInOwl:hasRelatedSynonym "cutaneus colagenous vasculopathy" MONDO:0008123 oboInOwl:hasRelatedSynonym "omodysplasia 2" MONDO:0008123 oboInOwl:hasRelatedSynonym "OMOD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033946 oboInOwl:hasRelatedSynonym "angioedema, hereditary, type 1" -MONDO:0033946 oboInOwl:hasRelatedSynonym "HAE1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033946 oboInOwl:hasRelatedSynonym "angioedema, hereditary, type I" +MONDO:0033946 oboInOwl:hasRelatedSynonym "HAE1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033946 oboInOwl:hasRelatedSynonym "C1 esterase inhibitor, deficiency of" MONDO:0033946 oboInOwl:hasRelatedSynonym "angioneurotic edema, hereditary" MONDO:0033946 oboInOwl:hasRelatedSynonym "angioedema, hereditary, type 2" @@ -71195,17 +71162,17 @@ GO:0006096 oboInOwl:hasRelatedSynonym "Embden-Meyerhof-Parnas pathway" GO:0006096 oboInOwl:hasRelatedSynonym "glycolysis" GO:0006096 oboInOwl:hasRelatedSynonym "Embden-Meyerhof pathway" MONDO:0009348 oboInOwl:hasRelatedSynonym "Hodgkin disease" -MONDO:0009348 oboInOwl:hasRelatedSynonym "Chl" MONDO:0009348 oboInOwl:hasRelatedSynonym "lymphoma, Hodgkin, classic" +MONDO:0009348 oboInOwl:hasRelatedSynonym "Chl" MONDO:0007651 oboInOwl:hasRelatedSynonym "peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia" MONDO:0011935 oboInOwl:hasRelatedSynonym "RP 30" MONDO:0011935 oboInOwl:hasRelatedSynonym "macular Degeneration" -MONDO:0011055 oboInOwl:hasRelatedSynonym "deletion 10p" -MONDO:0011055 oboInOwl:hasRelatedSynonym "partial monosomy 10p" -MONDO:0011055 oboInOwl:hasRelatedSynonym "10p monosomy" MONDO:0011055 oboInOwl:hasRelatedSynonym "DiGeorge syndrome/velocardiofacial syndrome complex 2" MONDO:0011055 oboInOwl:hasRelatedSynonym "monosomy 10p" MONDO:0011055 oboInOwl:hasRelatedSynonym "chromosome 10p deletion" +MONDO:0011055 oboInOwl:hasRelatedSynonym "partial monosomy 10p" +MONDO:0011055 oboInOwl:hasRelatedSynonym "10p monosomy" +MONDO:0011055 oboInOwl:hasRelatedSynonym "deletion 10p" MONDO:0011055 oboInOwl:hasRelatedSynonym "Dgs2" MONDO:0011055 oboInOwl:hasRelatedSynonym "10p deletion" MONDO:0016244 oboInOwl:hasRelatedSynonym "D-minus hemolytic uremic syndrome (D-HUS)" @@ -71213,10 +71180,10 @@ MONDO:0016244 oboInOwl:hasRelatedSynonym "HUS, atypical" HP:0002795 oboInOwl:hasRelatedSynonym "Respiratory problem" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0014004 oboInOwl:hasRelatedSynonym "IBGC4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0045582 oboInOwl:hasRelatedSynonym "positive regulation of T cell development" -MONDO:0044257 oboInOwl:hasRelatedSynonym "recessive 50U (A-B-) phenotype" -MONDO:0044257 oboInOwl:hasRelatedSynonym "Lutheran null" MONDO:0032642 oboInOwl:hasRelatedSynonym "ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT" MONDO:0032642 oboInOwl:hasRelatedSynonym "ACCIID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0044257 oboInOwl:hasRelatedSynonym "recessive 50U (A-B-) phenotype" +MONDO:0044257 oboInOwl:hasRelatedSynonym "Lutheran null" GO:0010324 oboInOwl:hasRelatedSynonym "single-organism membrane invagination" MONDO:0015609 oboInOwl:hasRelatedSynonym "advanced sleep phase syndrome, familial" MONDO:0015609 oboInOwl:hasRelatedSynonym "familial advanced sleep phase syndrome" @@ -71694,6 +71661,9 @@ GO:1904221 oboInOwl:hasRelatedSynonym "negative regulation of SPT" GO:1904221 oboInOwl:hasRelatedSynonym "downregulation of SPT" GO:1904221 oboInOwl:hasRelatedSynonym "inhibition of acyl-CoA:serine C-2 acyltransferase decarboxylating" CHEBI:84144 oboInOwl:hasRelatedSynonym "L-phenylalanine derivatives" +MONDO:0100490 oboInOwl:hasRelatedSynonym "athelia" +MONDO:0100490 oboInOwl:hasRelatedSynonym "amastia" +MONDO:0100490 oboInOwl:hasRelatedSynonym "amazia" GO:0005840 oboInOwl:hasRelatedSynonym "ribosomal RNA" MONDO:0015277 oboInOwl:hasRelatedSynonym "THME" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015277 oboInOwl:hasRelatedSynonym "thyroid carcinoma, medullary" @@ -71709,20 +71679,20 @@ MONDO:0007288 oboInOwl:hasRelatedSynonym "CTPP" http://purl.obolibrary.org/obo/m MONDO:0007288 oboInOwl:hasRelatedSynonym "cataract 6, multiple types" MONDO:0007288 oboInOwl:hasRelatedSynonym "cataract, age-related cortical, 2" MONDO:0007288 oboInOwl:hasRelatedSynonym "CTPA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018855 oboInOwl:hasRelatedSynonym "keratosis pilaris atrophicans facies" +MONDO:0018855 oboInOwl:hasRelatedSynonym "keratosis pilaris" MONDO:0018855 oboInOwl:hasRelatedSynonym "Atrophodermia reticulata symmetrica faciei" +MONDO:0018855 oboInOwl:hasRelatedSynonym "keratosis pilaris atrophicans facies" +MONDO:0018855 oboInOwl:hasRelatedSynonym "burnett Schwartz Berberian syndrome" +MONDO:0018855 oboInOwl:hasRelatedSynonym "amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2" MONDO:0018855 oboInOwl:hasRelatedSynonym "ulerythema ophryogenesis" MONDO:0018855 oboInOwl:hasRelatedSynonym "KPA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0018855 oboInOwl:hasRelatedSynonym "ulerythema ophryogenes" +MONDO:0018855 oboInOwl:hasRelatedSynonym "folliculitis ulerythematosa reticulata" MONDO:0018855 oboInOwl:hasRelatedSynonym "ulerythema ophryogenes with multiple congenital anomalies" +MONDO:0018855 oboInOwl:hasRelatedSynonym "honeycomb atrophy" +MONDO:0018855 oboInOwl:hasRelatedSynonym "Atrophodermia reticulata" MONDO:0018855 oboInOwl:hasRelatedSynonym "Atrophodermia vermiculata" MONDO:0018855 oboInOwl:hasRelatedSynonym "folliculitis ulerythematosa" -MONDO:0018855 oboInOwl:hasRelatedSynonym "Atrophodermia reticulata" -MONDO:0018855 oboInOwl:hasRelatedSynonym "ulerythema ophryogenes" -MONDO:0018855 oboInOwl:hasRelatedSynonym "burnett Schwartz Berberian syndrome" -MONDO:0018855 oboInOwl:hasRelatedSynonym "honeycomb atrophy" -MONDO:0018855 oboInOwl:hasRelatedSynonym "keratosis pilaris" -MONDO:0018855 oboInOwl:hasRelatedSynonym "folliculitis ulerythematosa reticulata" -MONDO:0018855 oboInOwl:hasRelatedSynonym "amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2" MONDO:0013627 oboInOwl:hasRelatedSynonym "3M3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008619 oboInOwl:hasRelatedSynonym "hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna" MONDO:0008619 oboInOwl:hasRelatedSynonym "metaphyseal chondrodysplasia, Rosenberg type" @@ -71752,19 +71722,19 @@ MONDO:0009262 oboInOwl:hasRelatedSynonym "adult GM1 gangliosidosis" MONDO:0009262 oboInOwl:hasRelatedSynonym "gangliosidosis, generalized GM1, adult type" GO:0008150 oboInOwl:hasRelatedSynonym "single-organism process" GO:0008150 oboInOwl:hasRelatedSynonym "single organism process" -MONDO:0007546 oboInOwl:hasRelatedSynonym "eosinophils, malignant proliferation of" -MONDO:0007546 oboInOwl:hasRelatedSynonym "MPE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010687 oboInOwl:hasRelatedSynonym "nephrolithiasis, X-linked recessive, type 1" MONDO:0010687 oboInOwl:hasRelatedSynonym "nephrolithiasis 1" MONDO:0010687 oboInOwl:hasRelatedSynonym "urolithiasis, X-linked recessive, type 1" MONDO:0010687 oboInOwl:hasRelatedSynonym "XRN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007546 oboInOwl:hasRelatedSynonym "eosinophils, malignant proliferation of" +MONDO:0007546 oboInOwl:hasRelatedSynonym "MPE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0060711 oboInOwl:hasRelatedSynonym "JABELS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010747 oboInOwl:hasRelatedSynonym "dystonia 3, torsion, X-linked" -MONDO:0010747 oboInOwl:hasRelatedSynonym "torsion dystonia-Parkinsonism, Filipino type" -MONDO:0010747 oboInOwl:hasRelatedSynonym "dystonia-Parkinsonism, X-linked" +MONDO:0010747 oboInOwl:hasRelatedSynonym "X-linked dystonia-Parkinsonism syndrome" MONDO:0010747 oboInOwl:hasRelatedSynonym "X-linked dystonia-parkinsonism/Lubag" MONDO:0010747 oboInOwl:hasRelatedSynonym "X-linked torsion dystonia-Parkinsonism syndrome" -MONDO:0010747 oboInOwl:hasRelatedSynonym "X-linked dystonia-Parkinsonism syndrome" +MONDO:0010747 oboInOwl:hasRelatedSynonym "dystonia 3, torsion, X-linked" +MONDO:0010747 oboInOwl:hasRelatedSynonym "dystonia-Parkinsonism, X-linked" +MONDO:0010747 oboInOwl:hasRelatedSynonym "torsion dystonia-Parkinsonism, Filipino type" CHEBI:46663 oboInOwl:hasRelatedSynonym "silicate minerals" CHEBI:46663 oboInOwl:hasRelatedSynonym "Silikate" CHEBI:46663 oboInOwl:hasRelatedSynonym "silicato" @@ -71845,8 +71815,8 @@ MONDO:0007149 oboInOwl:hasRelatedSynonym "anonymous restriction polymorphism 1" MONDO:0007325 oboInOwl:hasRelatedSynonym "infantile choreoathetosis of Fisher" MONDO:0009380 oboInOwl:hasRelatedSynonym "hyperbilirubinemia, Dubin-Johnson type" MONDO:0009380 oboInOwl:hasRelatedSynonym "conjugated hyperbilirubinemia" -MONDO:0009380 oboInOwl:hasRelatedSynonym "hyperbilirubinemia 2" MONDO:0009380 oboInOwl:hasRelatedSynonym "DJS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009380 oboInOwl:hasRelatedSynonym "hyperbilirubinemia 2" CHEBI:48854 oboInOwl:hasRelatedSynonym "H2SO3" CHEBI:48854 oboInOwl:hasRelatedSynonym "schweflige Saeure" CHEBI:48854 oboInOwl:hasRelatedSynonym "S(O)(OH)2" @@ -71934,8 +71904,8 @@ MONDO:0043959 oboInOwl:hasRelatedSynonym "lymphoid Hyperplasias, reactive" MONDO:0042705 oboInOwl:hasRelatedSynonym "prostatic malacoplakia with prostatic and seminal vesicle abscess" MONDO:0001598 oboInOwl:hasRelatedSynonym "benign lymphoepithelial lesion of the salivary gland" MONDO:0001598 oboInOwl:hasRelatedSynonym "benign salivary gland lymphoepithelial lesion" -MONDO:0008057 oboInOwl:hasRelatedSynonym "Carney syndrome" MONDO:0008057 oboInOwl:hasRelatedSynonym "name syndrome" +MONDO:0008057 oboInOwl:hasRelatedSynonym "Carney syndrome" MONDO:0008057 oboInOwl:hasRelatedSynonym "myxoma, spotty pigmentation, and endocrine overactivity" MONDO:0008057 oboInOwl:hasRelatedSynonym "CNC1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008057 oboInOwl:hasRelatedSynonym "lamb syndrome" @@ -72162,8 +72132,11 @@ MONDO:0014006 oboInOwl:hasRelatedSynonym "mental retardation, autosomal dominant MONDO:0014006 oboInOwl:hasRelatedSynonym "PACS1-related syndrome" MONDO:0014006 oboInOwl:hasRelatedSynonym "intellectual disability, autosomal dominant 17" MONDO:0014006 oboInOwl:hasRelatedSynonym "autosomal dominant intellectual disability-17" -MONDO:0032644 oboInOwl:hasRelatedSynonym "EV3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032644 oboInOwl:hasRelatedSynonym "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3" +MONDO:0032644 oboInOwl:hasRelatedSynonym "EV3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0023094 oboInOwl:hasRelatedSynonym "ochronosis, acquired" +MONDO:0023094 oboInOwl:hasRelatedSynonym "ocular ochronosis" +MONDO:0023094 oboInOwl:hasRelatedSynonym "pseudo-ochronosis" GO:0004339 oboInOwl:hasRelatedSynonym "glucose amylase activity" GO:0004339 oboInOwl:hasRelatedSynonym "gamma-1,4-glucan glucohydrolase activity" GO:0004339 oboInOwl:hasRelatedSynonym "1,4-alpha-D-glucan glucohydrolase activity" @@ -72181,9 +72154,6 @@ MONDO:0010024 oboInOwl:hasRelatedSynonym "Srps 4" MONDO:0010024 oboInOwl:hasRelatedSynonym "short rib-polydactyly syndrome, type 4" MONDO:0010024 oboInOwl:hasRelatedSynonym "short-rib thoracic dysplasia 12" MONDO:0010024 oboInOwl:hasRelatedSynonym "short rib-polydactyly syndrome Beemer type" -MONDO:0023094 oboInOwl:hasRelatedSynonym "ochronosis, acquired" -MONDO:0023094 oboInOwl:hasRelatedSynonym "ocular ochronosis" -MONDO:0023094 oboInOwl:hasRelatedSynonym "pseudo-ochronosis" MONDO:0013247 oboInOwl:hasRelatedSynonym "FRTS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012224 oboInOwl:hasRelatedSynonym "convulsions, familial febrile, 6" MONDO:0013849 oboInOwl:hasRelatedSynonym "MCPH8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -72225,6 +72195,8 @@ MONDO:0005500 oboInOwl:hasRelatedSynonym "ALG2-CDG" MONDO:0005500 oboInOwl:hasRelatedSynonym "ALG8-CDG (CDG-1h)" GO:0033007 oboInOwl:hasRelatedSynonym "negative regulation of mast cell activation during immune response" MONDO:0000812 oboInOwl:hasRelatedSynonym "spinal disease" +MONDO:0013626 oboInOwl:hasRelatedSynonym "GPP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013626 oboInOwl:hasRelatedSynonym "generalized pustular psoriasis" NCBITaxon:1760 oboInOwl:hasRelatedSynonym "Actinomycetes" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:1760 oboInOwl:hasRelatedSynonym "high GC Gram+" http://purl.obolibrary.org/obo/ncbitaxon#blast_name NCBITaxon:1760 oboInOwl:hasRelatedSynonym "High GC gram-positive bacteria" http://purl.obolibrary.org/obo/ncbitaxon#synonym @@ -72254,8 +72226,8 @@ GO:1904222 oboInOwl:hasRelatedSynonym "up regulation of acyl-CoA:serine C-2 acyl GO:1904222 oboInOwl:hasRelatedSynonym "upregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating" GO:1904222 oboInOwl:hasRelatedSynonym "up-regulation of SPT" GO:1904222 oboInOwl:hasRelatedSynonym "upregulation of SPT" -GO:1904222 oboInOwl:hasRelatedSynonym "up-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating" GO:1904222 oboInOwl:hasRelatedSynonym "activation of acyl-CoA:serine C-2 acyltransferase decarboxylating" +GO:1904222 oboInOwl:hasRelatedSynonym "up-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating" MONDO:0013980 oboInOwl:hasRelatedSynonym "palmoplantar keratoderma, punctate type IB" MONDO:0043468 oboInOwl:hasRelatedSynonym "nuchal keloid Acnes" MONDO:0043468 oboInOwl:hasRelatedSynonym "nuchae, folliculitis Keloidalis" @@ -72400,9 +72372,9 @@ MONDO:0060712 oboInOwl:hasRelatedSynonym "DIDOD" http://purl.obolibrary.org/obo/ MONDO:0060712 oboInOwl:hasRelatedSynonym "developmental delay, INTELLECTUAL disability, obesity, and DYSMORPHIC features" MONDO:0010748 oboInOwl:hasRelatedSynonym "torticollis, keloids, cryptorchidism, and renal dysplasia" MONDO:0010748 oboInOwl:hasRelatedSynonym "torticollis keloids cryptorchidism renal dysplasia" +MONDO:0010748 oboInOwl:hasRelatedSynonym "Tkcr syndrome" MONDO:0010748 oboInOwl:hasRelatedSynonym "Goeminne syndrome" MONDO:0010748 oboInOwl:hasRelatedSynonym "TKCR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010748 oboInOwl:hasRelatedSynonym "Tkcr syndrome" MONDO:0010748 oboInOwl:hasRelatedSynonym "Tkc" MONDO:0005116 oboInOwl:hasRelatedSynonym "Tropheryma whippelii infection" MONDO:0005116 oboInOwl:hasRelatedSynonym "Whipple's disease" @@ -72511,8 +72483,8 @@ MONDO:0013785 oboInOwl:hasRelatedSynonym "intellectual disability, autosomal rec PATO:0002254 oboInOwl:hasRelatedSynonym "compressed" MONDO:0012570 oboInOwl:hasRelatedSynonym "pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency" MONDO:0012570 oboInOwl:hasRelatedSynonym "PXE-like disorder with multiple coagulation Factor deficiency" -MONDO:0019351 oboInOwl:hasRelatedSynonym "open spine" MONDO:0019351 oboInOwl:hasRelatedSynonym "cleft spine" +MONDO:0019351 oboInOwl:hasRelatedSynonym "open spine" MONDO:0000459 oboInOwl:hasRelatedSynonym "glioblastoma mesenchymal subtype" MONDO:0008265 oboInOwl:hasRelatedSynonym "ADPCLD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008265 oboInOwl:hasRelatedSynonym "autosomal dominant polycystic liver disease" @@ -72577,14 +72549,14 @@ MONDO:0008523 oboInOwl:hasRelatedSynonym "synovitis, granulomatous, with uveitis MONDO:0012186 oboInOwl:hasRelatedSynonym "Fanconi Anemia, complementation Group 1" MONDO:0012186 oboInOwl:hasRelatedSynonym "Fanconi anemia, complementation group I" MONDO:0001941 oboInOwl:hasRelatedSynonym "blindness" -MONDO:0009068 oboInOwl:hasRelatedSynonym "COX deficiency" +MONDO:0009068 oboInOwl:hasRelatedSynonym "deficiency of mitochondrial respiratory chain complex4" MONDO:0009068 oboInOwl:hasRelatedSynonym "cytochrome C oxidase deficiency" -MONDO:0009068 oboInOwl:hasRelatedSynonym "Cox deficiency" MONDO:0009068 oboInOwl:hasRelatedSynonym "Complex IV deficiency" -MONDO:0009068 oboInOwl:hasRelatedSynonym "Complex 4 mitochondrial respiratory chain deficiency" MONDO:0009068 oboInOwl:hasRelatedSynonym "mitochondrial Complex 4 deficiency" +MONDO:0009068 oboInOwl:hasRelatedSynonym "Cox deficiency" +MONDO:0009068 oboInOwl:hasRelatedSynonym "Complex 4 mitochondrial respiratory chain deficiency" MONDO:0009068 oboInOwl:hasRelatedSynonym "isolated cytochrome C oxidase deficiency" -MONDO:0009068 oboInOwl:hasRelatedSynonym "deficiency of mitochondrial respiratory chain complex4" +MONDO:0009068 oboInOwl:hasRelatedSynonym "COX deficiency" MONDO:0032653 oboInOwl:hasRelatedSynonym "CUGS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032653 oboInOwl:hasRelatedSynonym "CARDIAC-UROGENITAL SYNDROME" MONDO:0006607 oboInOwl:hasRelatedSynonym "disease of sebaceous glands" @@ -72872,7 +72844,6 @@ MONDO:0023273 oboInOwl:hasRelatedSynonym "Pigmented Dermatofibrosarcoma Protuber MONDO:0023273 oboInOwl:hasRelatedSynonym "Pigmented DFSP" MONDO:0023273 oboInOwl:hasRelatedSynonym "Pigmented dermatofibrosarcoma" MONDO:0023273 oboInOwl:hasRelatedSynonym "Bednars Tumor" -MONDO:0023273 oboInOwl:hasRelatedSynonym "Bednar tumor" MONDO:0023273 oboInOwl:hasRelatedSynonym "Tumor, Bednar" MONDO:0023273 oboInOwl:hasRelatedSynonym "Pigmented Dermatofibrosarcoma Protuberan" MONDO:0023273 oboInOwl:hasRelatedSynonym "Protuberans, Pigmented Dermatofibrosarcoma" @@ -73064,12 +73035,12 @@ MONDO:0032654 oboInOwl:hasRelatedSynonym "HIES3" http://purl.obolibrary.org/obo/ MONDO:0022357 oboInOwl:hasRelatedSynonym "congenital absence of the heart" MONDO:0010034 oboInOwl:hasRelatedSynonym "skunk N-butyl mercaptan, inability to smell" MONDO:0010034 oboInOwl:hasRelatedSynonym "skunk N-BUTYLMERCAPTAN, inability to smell" -MONDO:0012877 oboInOwl:hasRelatedSynonym "bipolar affective disorder" -MONDO:0012877 oboInOwl:hasRelatedSynonym "MAJOR affective disorder 8" MONDO:0010424 oboInOwl:hasRelatedSynonym "Pap due to Csf2Ra deficiency" MONDO:0010424 oboInOwl:hasRelatedSynonym "pulmonary alveolar proteinosis, congenital, 4" MONDO:0010424 oboInOwl:hasRelatedSynonym "Csf2Ra deficiency" MONDO:0010424 oboInOwl:hasRelatedSynonym "SMDP4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012877 oboInOwl:hasRelatedSynonym "bipolar affective disorder" +MONDO:0012877 oboInOwl:hasRelatedSynonym "MAJOR affective disorder 8" GO:0005938 oboInOwl:hasRelatedSynonym "peripheral cytoplasm" GO:0005938 oboInOwl:hasRelatedSynonym "cell periphery" HP:0003826 oboInOwl:hasRelatedSynonym "Foetal death" http://purl.obolibrary.org/obo/hp.obo#uk_spelling @@ -73166,14 +73137,14 @@ MONDO:0043257 oboInOwl:hasRelatedSynonym "fogo selvagem" MONDO:0043257 oboInOwl:hasRelatedSynonym "South American pemphigus" MONDO:0043257 oboInOwl:hasRelatedSynonym "wildfire pemphigus" MONDO:0003098 oboInOwl:hasRelatedSynonym "malignant mediastinal neurogenic neoplasm" -MONDO:0021960 oboInOwl:hasRelatedSynonym "Inflammation of ureter" -MONDO:0021960 oboInOwl:hasRelatedSynonym "Ureteritis" MONDO:0009592 oboInOwl:hasRelatedSynonym "wedge-shaped epiphyses of the knees with intellectual disability and short stature" MONDO:0009592 oboInOwl:hasRelatedSynonym "cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly" MONDO:0009592 oboInOwl:hasRelatedSynonym "Bellini Chiumello Rimoldi syndrome" MONDO:0009592 oboInOwl:hasRelatedSynonym "wedge-Shaped epiphyses of knees" MONDO:0009592 oboInOwl:hasRelatedSynonym "wedge-shaped epiphyses of the knees with mental retardation and short stature" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0009592 oboInOwl:hasRelatedSynonym "wedge-shaped epiphyses of knees" +MONDO:0021960 oboInOwl:hasRelatedSynonym "Inflammation of ureter" +MONDO:0021960 oboInOwl:hasRelatedSynonym "Ureteritis" MONDO:0010309 oboInOwl:hasRelatedSynonym "mental retardation, X-linked 42" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0008090 oboInOwl:hasRelatedSynonym "neutropenia cyclic" MONDO:0008090 oboInOwl:hasRelatedSynonym "cyclic neutropenia" @@ -73450,18 +73421,18 @@ MONDO:0009478 oboInOwl:hasRelatedSynonym "hyper-IgE recurrent infection syndrome MONDO:0009478 oboInOwl:hasRelatedSynonym "hyper Ig E syndrome, autosomal recessive" MONDO:0009478 oboInOwl:hasRelatedSynonym "HIES autosomal recessive" MONDO:0009478 oboInOwl:hasRelatedSynonym "AR hyperimmunoglobulin E syndrome" -MONDO:0009478 oboInOwl:hasRelatedSynonym "HIES, autosomal recessive" MONDO:0009478 oboInOwl:hasRelatedSynonym "autosomal recessive hyper IgE syndrome" +MONDO:0009478 oboInOwl:hasRelatedSynonym "HIES, autosomal recessive" MONDO:0009478 oboInOwl:hasRelatedSynonym "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive" MONDO:0009478 oboInOwl:hasRelatedSynonym "AR-HIES" MONDO:0009478 oboInOwl:hasRelatedSynonym "DOCK8 deficiency" MONDO:0006969 oboInOwl:hasRelatedSynonym "salivary gland inflammation" MONDO:0006969 oboInOwl:hasRelatedSynonym "adenitis, salivary gland" +MONDO:0007915 oboInOwl:hasRelatedSynonym "excess lymphocyte low molecular weight DNA" +MONDO:0007915 oboInOwl:hasRelatedSynonym "excess LMW-DNA" MONDO:0032908 oboInOwl:hasRelatedSynonym "CEBALID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032908 oboInOwl:hasRelatedSynonym "Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development" MONDO:0032908 oboInOwl:hasRelatedSynonym "CEBALID SYNDROME" -MONDO:0007915 oboInOwl:hasRelatedSynonym "excess lymphocyte low molecular weight DNA" -MONDO:0007915 oboInOwl:hasRelatedSynonym "excess LMW-DNA" MONDO:0020524 oboInOwl:hasRelatedSynonym "hereditary parathyroids hyperplasia" CHEBI:51721 oboInOwl:hasRelatedSynonym "alpha,beta-unsaturated ketones" CHEBI:26743 oboInOwl:hasRelatedSynonym "4-sphingenine" @@ -73558,7 +73529,6 @@ MONDO:0010393 oboInOwl:hasRelatedSynonym "mental retardation, X-linked 93" http: MONDO:0010393 oboInOwl:hasRelatedSynonym "mental retardation, X-linked, with macrocephaly" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010393 oboInOwl:hasRelatedSynonym "intellectual disability, X-linked, with macrocephaly" MONDO:0010393 oboInOwl:hasRelatedSynonym "MRX93" http://purl.obolibrary.org/obo/mondo#DEPRECATED -MONDO:0044354 oboInOwl:hasRelatedSynonym "Rosaï-Dorfman disease" MONDO:0014252 oboInOwl:hasRelatedSynonym "FHBL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014252 oboInOwl:hasRelatedSynonym "hypobetalipoproteinemia, Normotriglyceridemic" MONDO:0014252 oboInOwl:hasRelatedSynonym "hypobetalipoproteinemia, familial" @@ -73566,6 +73536,7 @@ MONDO:0014252 oboInOwl:hasRelatedSynonym "hypobetalipoproteinemia, familial, 1" MONDO:0014252 oboInOwl:hasRelatedSynonym "acanthocytosis with hypobetalipoproteinemia" MONDO:0013482 oboInOwl:hasRelatedSynonym "Meckel syndrome 8" MONDO:0004977 oboInOwl:hasRelatedSynonym "AITL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0044354 oboInOwl:hasRelatedSynonym "Rosaï-Dorfman disease" MONDO:0011866 oboInOwl:hasRelatedSynonym "PCH1A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011866 oboInOwl:hasRelatedSynonym "Pch1" MONDO:0011866 oboInOwl:hasRelatedSynonym "pontocerebellar hypoplasia with anterior horn cell disease" @@ -73628,9 +73599,9 @@ MONDO:0010204 oboInOwl:hasRelatedSynonym "Wolman disease" MONDO:0010204 oboInOwl:hasRelatedSynonym "lysosomal and lipase deficiency" MONDO:0004829 oboInOwl:hasRelatedSynonym "Krukenberg’s tumor" MONDO:0011439 oboInOwl:hasRelatedSynonym "spinocerebellar ataxia 12" -MONDO:0017613 oboInOwl:hasRelatedSynonym "Medrano Roldan syndrome" NCBITaxon:816 oboInOwl:hasRelatedSynonym "Ristella" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:816 oboInOwl:hasRelatedSynonym "Capsularis" http://purl.obolibrary.org/obo/ncbitaxon#synonym +MONDO:0017613 oboInOwl:hasRelatedSynonym "Medrano Roldan syndrome" HP:0000613 oboInOwl:hasRelatedSynonym "Photodysphoria" MONDO:0009422 oboInOwl:hasRelatedSynonym "sweat gland hypoplasia" MONDO:0005893 oboInOwl:hasRelatedSynonym "neuroendocrine carcinoma of pancreas" @@ -73666,8 +73637,8 @@ MONDO:0009593 oboInOwl:hasRelatedSynonym "spondylometaphyseal dysplasia Sedaghat GO:0002232 oboInOwl:hasRelatedSynonym "leukocyte chemotaxis during inflammatory response" GO:0002232 oboInOwl:hasRelatedSynonym "leucocyte chemotaxis during inflammatory response" GO:0002232 oboInOwl:hasRelatedSynonym "immune cell chemotaxis during inflammatory response" -MONDO:0011868 oboInOwl:hasRelatedSynonym "multiple contracture syndrome, Israeli Bedouin type a" MONDO:0011868 oboInOwl:hasRelatedSynonym "multiple contracture syndrome, Israeli Bedouin type" +MONDO:0011868 oboInOwl:hasRelatedSynonym "multiple contracture syndrome, Israeli Bedouin type a" MONDO:0008091 oboInOwl:hasRelatedSynonym "neutrophil chemotactic response" MONDO:0008091 oboInOwl:hasRelatedSynonym "neutrophil migration" MONDO:0006475 oboInOwl:hasRelatedSynonym "URCC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -73883,22 +73854,22 @@ CHEBI:32761 oboInOwl:hasRelatedSynonym "L-tyrosine dianion" CHEBI:32761 oboInOwl:hasRelatedSynonym "(2S)-2-amino-3-(4-oxidophenyl)propanoate" MONDO:0054748 oboInOwl:hasRelatedSynonym "Fanconi anemia, complementation GROUP S" MONDO:0054748 oboInOwl:hasRelatedSynonym "FANCS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009656 oboInOwl:hasRelatedSynonym "MPS 3B" -MONDO:0009656 oboInOwl:hasRelatedSynonym "Mucopoly-saccharidosis type 3B" -MONDO:0009656 oboInOwl:hasRelatedSynonym "MPS IIIB" +MONDO:0009656 oboInOwl:hasRelatedSynonym "NAGLU deficiency" MONDO:0009656 oboInOwl:hasRelatedSynonym "mucopolysaccharidosis, type 3B" +MONDO:0009656 oboInOwl:hasRelatedSynonym "Mucopoly-saccharidosis type 3B" MONDO:0009656 oboInOwl:hasRelatedSynonym "mucopolysaccharidosis, type IIIB" -MONDO:0009656 oboInOwl:hasRelatedSynonym "Sanfilippo syndrome B" MONDO:0009656 oboInOwl:hasRelatedSynonym "N-Acetyl-Alpha-D-glucosaminidase deficiency" -MONDO:0009656 oboInOwl:hasRelatedSynonym "NAGLU deficiency" +MONDO:0009656 oboInOwl:hasRelatedSynonym "MPS 3B" +MONDO:0009656 oboInOwl:hasRelatedSynonym "Sanfilippo syndrome B" +MONDO:0009656 oboInOwl:hasRelatedSynonym "MPS IIIB" MONDO:0013124 oboInOwl:hasRelatedSynonym "Pvop2" MONDO:0014682 oboInOwl:hasRelatedSynonym "NMTC5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014261 oboInOwl:hasRelatedSynonym "COXPD18" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014261 oboInOwl:hasRelatedSynonym "combined oxidative phosphorylation deficiency 18" -MONDO:0010621 oboInOwl:hasRelatedSynonym "congenital hemidysplasia with ichthyosiform erythroderma and limb defects" -MONDO:0010621 oboInOwl:hasRelatedSynonym "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs" MONDO:0010621 oboInOwl:hasRelatedSynonym "ichthyosis, child syndrome" +MONDO:0010621 oboInOwl:hasRelatedSynonym "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs" MONDO:0010621 oboInOwl:hasRelatedSynonym "congenital hemidysplasia with ichthyosiform nevus and limb defects" +MONDO:0010621 oboInOwl:hasRelatedSynonym "congenital hemidysplasia with ichthyosiform erythroderma and limb defects" CHEBI:33708 oboInOwl:hasRelatedSynonym "amino-acid residues" CHEBI:33708 oboInOwl:hasRelatedSynonym "amino acid residue" MONDO:0012386 oboInOwl:hasRelatedSynonym "metaphyseal chondrodysplasia with cone-Shaped epiphyses and alopecia" @@ -73954,8 +73925,8 @@ NCBITaxon:3754 oboInOwl:hasRelatedSynonym "Prunus subg. Armeniaca" http://purl.o NCBITaxon:3754 oboInOwl:hasRelatedSynonym "Prunus subg. Amygdalus" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:3754 oboInOwl:hasRelatedSynonym "Prunus subg. Cerasus" http://purl.obolibrary.org/obo/ncbitaxon#synonym MONDO:0014040 oboInOwl:hasRelatedSynonym "osteopetrosis, autosomal recessive 8" -MONDO:0032773 oboInOwl:hasRelatedSynonym "URIDINE-CYTIDINEURIA" MONDO:0032773 oboInOwl:hasRelatedSynonym "URCTU" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032773 oboInOwl:hasRelatedSynonym "URIDINE-CYTIDINEURIA" NCBITaxon:39030 oboInOwl:hasRelatedSynonym "Apodemus pratensis" http://purl.obolibrary.org/obo/ncbitaxon#synonym MONDO:0013376 oboInOwl:hasRelatedSynonym "MCOPCB6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010810 oboInOwl:hasRelatedSynonym "VDDR1B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -73977,15 +73948,14 @@ MONDO:0010036 oboInOwl:hasRelatedSynonym "DIAR3" http://purl.obolibrary.org/obo/ NBO:0000034 oboInOwl:hasRelatedSynonym "sexual actions" MONDO:0018983 oboInOwl:hasRelatedSynonym "THS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018983 oboInOwl:hasRelatedSynonym "nonspecific inflammation of the cavernous sinus or superior orbital fissure" -MONDO:0018983 oboInOwl:hasRelatedSynonym "tolosa Hunt syndrome" MONDO:0008747 oboInOwl:hasRelatedSynonym "Xanthism" -MONDO:0008747 oboInOwl:hasRelatedSynonym "oculocutaneous albinism, type 3" -MONDO:0008747 oboInOwl:hasRelatedSynonym "albinism 3" -MONDO:0008747 oboInOwl:hasRelatedSynonym "oculocutaneous albinism type III" MONDO:0008747 oboInOwl:hasRelatedSynonym "albinism, oculocutaneous, type 3" -MONDO:0008747 oboInOwl:hasRelatedSynonym "albinism, oculocutaneous, type III" +MONDO:0008747 oboInOwl:hasRelatedSynonym "oculocutaneous albinism, type 3" MONDO:0008747 oboInOwl:hasRelatedSynonym "rufous OCA" +MONDO:0008747 oboInOwl:hasRelatedSynonym "albinism, oculocutaneous, type III" MONDO:0008747 oboInOwl:hasRelatedSynonym "ROCA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008747 oboInOwl:hasRelatedSynonym "oculocutaneous albinism type III" +MONDO:0008747 oboInOwl:hasRelatedSynonym "albinism 3" MONDO:0009821 oboInOwl:hasRelatedSynonym "osteosclerotic bone dysplasia, lethal" MONDO:0009821 oboInOwl:hasRelatedSynonym "combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis" MONDO:0009821 oboInOwl:hasRelatedSynonym "RNS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -74077,11 +74047,11 @@ CHEBI:25555 oboInOwl:hasRelatedSynonym "7N" CHEBI:25555 oboInOwl:hasRelatedSynonym "nitrogeno" CHEBI:25555 oboInOwl:hasRelatedSynonym "Stickstoff" CHEBI:25555 oboInOwl:hasRelatedSynonym "N" +MONDO:0005894 oboInOwl:hasRelatedSynonym "Lutz-Splendore-Almeida disease" +MONDO:0005894 oboInOwl:hasRelatedSynonym "South American blastomycosis" MONDO:0005894 oboInOwl:hasRelatedSynonym "PCM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005894 oboInOwl:hasRelatedSynonym "Paracoccidioidal granuloma" MONDO:0005894 oboInOwl:hasRelatedSynonym "lobo disease" -MONDO:0005894 oboInOwl:hasRelatedSynonym "South American blastomycosis" -MONDO:0005894 oboInOwl:hasRelatedSynonym "Lutz-Splendore-Almeida disease" MONDO:0015069 oboInOwl:hasRelatedSynonym "neuroendocrine tumor of anal canal" MONDO:0008411 oboInOwl:hasRelatedSynonym "ulnar-mammary syndrome of Pallister" MONDO:0012074 oboInOwl:hasRelatedSynonym "lipodystrophy, type B, associated with Mandibuloacral dysplasia" @@ -74229,13 +74199,13 @@ MONDO:0011531 oboInOwl:hasRelatedSynonym "Noonan syndrome, autosomal recessive" MONDO:0011531 oboInOwl:hasRelatedSynonym "Noonan syndrome autosomal recessive" MONDO:0012614 oboInOwl:hasRelatedSynonym "MRT6" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0012614 oboInOwl:hasRelatedSynonym "mental retardation, autosomal recessive 6" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0054582 oboInOwl:hasRelatedSynonym "TBS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007925 oboInOwl:hasRelatedSynonym "megakaryocytes, unilobular nucleated" MONDO:0007925 oboInOwl:hasRelatedSynonym "5q deletion syndrome" MONDO:0007925 oboInOwl:hasRelatedSynonym "macrocytic Anemia, refractory, due to 5Q deletion" MONDO:0007925 oboInOwl:hasRelatedSynonym "MAR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007925 oboInOwl:hasRelatedSynonym "5q syndrome" MONDO:0007925 oboInOwl:hasRelatedSynonym "refractory macrocytic anemia due to 5q deletion" -MONDO:0054582 oboInOwl:hasRelatedSynonym "TBS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007373 oboInOwl:hasRelatedSynonym "band keratopathy with deafness" GO:2000253 oboInOwl:hasRelatedSynonym "positive regulation of drinking" GO:2000253 oboInOwl:hasRelatedSynonym "positive regulation of eating" @@ -74324,14 +74294,14 @@ MONDO:0009267 oboInOwl:hasRelatedSynonym "Gaucher disease, type 3" MONDO:0009267 oboInOwl:hasRelatedSynonym "Gaucher disease type 3" MONDO:0009267 oboInOwl:hasRelatedSynonym "Gaucher disease, type 3B" MONDO:0009267 oboInOwl:hasRelatedSynonym "Gaucher disease, type III" -MONDO:0009657 oboInOwl:hasRelatedSynonym "Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency" -MONDO:0009657 oboInOwl:hasRelatedSynonym "Sanfilippo syndrome C" MONDO:0009657 oboInOwl:hasRelatedSynonym "MPS IIIC" -MONDO:0009657 oboInOwl:hasRelatedSynonym "mucopolysaccharidosis, type IIIC" MONDO:0009657 oboInOwl:hasRelatedSynonym "Mucopoly-saccharidosis type 3C" -MONDO:0009657 oboInOwl:hasRelatedSynonym "MPS 3C" -MONDO:0009657 oboInOwl:hasRelatedSynonym "acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency" MONDO:0009657 oboInOwl:hasRelatedSynonym "mucopolysaccharidosis, type 3C" +MONDO:0009657 oboInOwl:hasRelatedSynonym "Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency" +MONDO:0009657 oboInOwl:hasRelatedSynonym "acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency" +MONDO:0009657 oboInOwl:hasRelatedSynonym "mucopolysaccharidosis, type IIIC" +MONDO:0009657 oboInOwl:hasRelatedSynonym "Sanfilippo syndrome C" +MONDO:0009657 oboInOwl:hasRelatedSynonym "MPS 3C" MONDO:0007223 oboInOwl:hasRelatedSynonym "brachydactyly, type E" MONDO:0007223 oboInOwl:hasRelatedSynonym "brachydactyly, type E1" MONDO:0010364 oboInOwl:hasRelatedSynonym "nonspecific intellectual disability associated with retinitis pigmentosa" @@ -74503,9 +74473,9 @@ GO:1903770 oboInOwl:hasRelatedSynonym "negative regulation of maxilact" GO:1903770 oboInOwl:hasRelatedSynonym "downregulation of S 2107" GO:1903770 oboInOwl:hasRelatedSynonym "down-regulation of S 2107" GO:1903770 oboInOwl:hasRelatedSynonym "negative regulation of oryzatym" +MONDO:0054749 oboInOwl:hasRelatedSynonym "BMIQ19" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054749 oboInOwl:hasRelatedSynonym "obesity, Susceptibility to" MONDO:0054749 oboInOwl:hasRelatedSynonym "body MASS index quantitative trait locus 19" -MONDO:0054749 oboInOwl:hasRelatedSynonym "BMIQ19" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008420 oboInOwl:hasRelatedSynonym "keratosis, seborrheic" MONDO:0044811 oboInOwl:hasRelatedSynonym "Ziehen-oppenheim disease" MONDO:0044811 oboInOwl:hasRelatedSynonym "dystonia deformans progressiva" @@ -74580,6 +74550,7 @@ MONDO:0020681 oboInOwl:hasRelatedSynonym "Ehlers-Danlos syndrome, type Vib, form MONDO:0020681 oboInOwl:hasRelatedSynonym "EDSMC1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020681 oboInOwl:hasRelatedSynonym "Ehlers-Danlos syndrome, type Vib" NCBITaxon:123366 oboInOwl:hasRelatedSynonym "Eurypterygii" http://purl.obolibrary.org/obo/ncbitaxon#synonym +MONDO:0018229 oboInOwl:hasRelatedSynonym "erythema multiforme major" MONDO:0018229 oboInOwl:hasRelatedSynonym "severe cutaneous adverse reaction, susceptibility to" MONDO:0018229 oboInOwl:hasRelatedSynonym "Stevens-Johnson syndrome, susceptibility to" MONDO:0018229 oboInOwl:hasRelatedSynonym "hypersensitivity syndrome, carbamazepine-induced, susceptibility to" @@ -74696,10 +74667,10 @@ MONDO:0000262 oboInOwl:hasRelatedSynonym "otitis mycotic externa" MONDO:0002529 oboInOwl:hasRelatedSynonym "CSCC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0023099 oboInOwl:hasRelatedSynonym "FRAXD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP:0002209 oboInOwl:hasRelatedSynonym "Thin scalp hair" http://purl.obolibrary.org/obo/hp.obo#layperson -MONDO:0013932 oboInOwl:hasRelatedSynonym "PBD5A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013932 oboInOwl:hasRelatedSynonym "peroxisome biogenesis disorder, complementation group 10" MONDO:0013932 oboInOwl:hasRelatedSynonym "peroxisome biogenesis disorder, complementation group 5" MONDO:0013932 oboInOwl:hasRelatedSynonym "peroxisome biogenesis disorder, complementation group F" +MONDO:0013932 oboInOwl:hasRelatedSynonym "PBD5A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCBITaxon:29178 oboInOwl:hasRelatedSynonym "Foraminiferida" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:29178 oboInOwl:hasRelatedSynonym "forams" http://purl.obolibrary.org/obo/ncbitaxon#blast_name MONDO:0005036 oboInOwl:hasRelatedSynonym "STAD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -74727,8 +74698,8 @@ MONDO:0011142 oboInOwl:hasRelatedSynonym "Ehlers-Danlos syndrome, type Vib, form MONDO:0011142 oboInOwl:hasRelatedSynonym "adducted thumb-club foot syndrome" MONDO:0011142 oboInOwl:hasRelatedSynonym "Ehlers-Danlos syndrome, musculocontractural type, 1" MONDO:0011142 oboInOwl:hasRelatedSynonym "Ehlers-Danlos syndrome, type VIB, formerly" -MONDO:0011142 oboInOwl:hasRelatedSynonym "EDSMC1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011142 oboInOwl:hasRelatedSynonym "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome" +MONDO:0011142 oboInOwl:hasRelatedSynonym "EDSMC1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011142 oboInOwl:hasRelatedSynonym "EDS6B, formerly" MONDO:0011142 oboInOwl:hasRelatedSynonym "adducted thumb clubfoot syndrome" MONDO:0011142 oboInOwl:hasRelatedSynonym "autosomal recessive adducted thumb-club foot syndrome" @@ -74787,8 +74758,8 @@ MONDO:0013711 oboInOwl:hasRelatedSynonym "PNMHH" http://purl.obolibrary.org/obo/ MONDO:0033311 oboInOwl:hasRelatedSynonym "JBTS33" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015131 oboInOwl:hasRelatedSynonym "combined T and B cell immunodeficiency" MONDO:0015131 oboInOwl:hasRelatedSynonym "combined T cell and B cell immunodeficiency" -CHEBI:16393 oboInOwl:hasRelatedSynonym "2-amino-4-octadecene-1,3-diol" CHEBI:16393 oboInOwl:hasRelatedSynonym "Sph" +CHEBI:16393 oboInOwl:hasRelatedSynonym "2-amino-4-octadecene-1,3-diol" CHEBI:16393 oboInOwl:hasRelatedSynonym "(2S,3R)-(E)-2-amino-1,3-dihydroxy-4-octadecene" CHEBI:16393 oboInOwl:hasRelatedSynonym "(E)-D-erythro-4-octadecene-1,3-diol" CHEBI:16393 oboInOwl:hasRelatedSynonym "(4E)-sphingenine" @@ -74881,14 +74852,14 @@ MONDO:0005747 oboInOwl:hasRelatedSynonym "enterovirus infection" MONDO:0005747 oboInOwl:hasRelatedSynonym "infections, Enterovirus" MONDO:0005747 oboInOwl:hasRelatedSynonym "enteroviral infection" MONDO:0005747 oboInOwl:hasRelatedSynonym "disease caused by enterovirus" +MONDO:0009658 oboInOwl:hasRelatedSynonym "N-acetylglucosamine-6-sulfatase deficiency" MONDO:0009658 oboInOwl:hasRelatedSynonym "Sanfilippo syndrome D" -MONDO:0009658 oboInOwl:hasRelatedSynonym "mucopolysaccharidosis, type 3D" MONDO:0009658 oboInOwl:hasRelatedSynonym "Mucopoly-saccharidosis type 3D" -MONDO:0009658 oboInOwl:hasRelatedSynonym "N-acetylglucosamine-6-sulfatase deficiency" -MONDO:0009658 oboInOwl:hasRelatedSynonym "N-acetylglucosamine-6-sulfate sulfatase deficiency" -MONDO:0009658 oboInOwl:hasRelatedSynonym "MPS 3D" MONDO:0009658 oboInOwl:hasRelatedSynonym "MPS IIID" +MONDO:0009658 oboInOwl:hasRelatedSynonym "MPS 3D" MONDO:0009658 oboInOwl:hasRelatedSynonym "mucopolysaccharidosis, type IIID" +MONDO:0009658 oboInOwl:hasRelatedSynonym "mucopolysaccharidosis, type 3D" +MONDO:0009658 oboInOwl:hasRelatedSynonym "N-acetylglucosamine-6-sulfate sulfatase deficiency" MONDO:0008571 oboInOwl:hasRelatedSynonym "tibia vara, infantile" MONDO:0008571 oboInOwl:hasRelatedSynonym "Osteochondrosis deformans tibiae, infantile" MONDO:0002558 oboInOwl:hasRelatedSynonym "MSCHW" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -75104,11 +75075,11 @@ MONDO:0007784 oboInOwl:hasRelatedSynonym "pituitary resistance to thyroid hormon MONDO:0009340 oboInOwl:hasRelatedSynonym "hemolytic anemia, nonspherocytic, due to hexokinase deficiency" MONDO:0009340 oboInOwl:hasRelatedSynonym "nonspherocytic hemolytic anemia due to hexokinase deficiency" MONDO:0009340 oboInOwl:hasRelatedSynonym "hexokinase deficiency hemolytic anemia" -MONDO:0020682 oboInOwl:hasRelatedSynonym "Ehlers-Danlos syndrome, progeroid type, 1, formerly" MONDO:0004910 oboInOwl:hasRelatedSynonym "systolic click-murmur syndrome" MONDO:0004910 oboInOwl:hasRelatedSynonym "mitral valve prolapse, myxomatous" MONDO:0004910 oboInOwl:hasRelatedSynonym "mitral leaflet syndrome" MONDO:0004910 oboInOwl:hasRelatedSynonym "myxomatous mitral valve prolapse" +MONDO:0020682 oboInOwl:hasRelatedSynonym "Ehlers-Danlos syndrome, progeroid type, 1, formerly" MONDO:0023370 oboInOwl:hasRelatedSynonym "neoplastic disorder" MONDO:0023370 oboInOwl:hasRelatedSynonym "neoplastic disease" ENVO:01000355 oboInOwl:hasRelatedSynonym "woodland layer" @@ -75214,8 +75185,8 @@ CHEBI:17478 oboInOwl:hasRelatedSynonym "aldehido" CHEBI:17478 oboInOwl:hasRelatedSynonym "RC(=O)H" CHEBI:17478 oboInOwl:hasRelatedSynonym "aldehydes" CHEBI:17478 oboInOwl:hasRelatedSynonym "Aldehyd" -CHEBI:17478 oboInOwl:hasRelatedSynonym "aldehidos" CHEBI:17478 oboInOwl:hasRelatedSynonym "an aldehyde" +CHEBI:17478 oboInOwl:hasRelatedSynonym "aldehidos" MONDO:0011541 oboInOwl:hasRelatedSynonym "cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant" MONDO:0011541 oboInOwl:hasRelatedSynonym "cardiomyopathy, dilated, 1J" MONDO:0007437 oboInOwl:hasRelatedSynonym "anomalous dysplasia of dentin" @@ -75254,8 +75225,8 @@ MONDO:0060622 oboInOwl:hasRelatedSynonym "NEDMIAL" http://purl.obolibrary.org/ob MONDO:0008938 oboInOwl:hasRelatedSynonym "cerebellar ataxia, early-onset, with retained tendon reflexes" MONDO:0008938 oboInOwl:hasRelatedSynonym "ataxia, harding type" MONDO:0008938 oboInOwl:hasRelatedSynonym "cerebellar ataxia early onset with retained tendon reflex" -MONDO:0032614 oboInOwl:hasRelatedSynonym "EV2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032614 oboInOwl:hasRelatedSynonym "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2" +MONDO:0032614 oboInOwl:hasRelatedSynonym "EV2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:78505 oboInOwl:hasRelatedSynonym "venoms" MONDO:0010491 oboInOwl:hasRelatedSynonym "chromosome Xq26.3 DUPLICATION syndrome" MONDO:0010491 oboInOwl:hasRelatedSynonym "X-linked acrogigantism" @@ -75264,18 +75235,18 @@ MONDO:0013890 oboInOwl:hasRelatedSynonym "myopathy, centronuclear, 4" MONDO:0013933 oboInOwl:hasRelatedSynonym "PBD5B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005037 oboInOwl:hasRelatedSynonym "intestinal type stomach adenocarcinoma" CHEBI:77938 oboInOwl:hasRelatedSynonym "barbiturate" +MONDO:0020721 oboInOwl:hasRelatedSynonym "sideroblastic anemia X-linked" +MONDO:0020721 oboInOwl:hasRelatedSynonym "erythroid 5-aminolevulinate synthase deficiency" MONDO:0020721 oboInOwl:hasRelatedSynonym "anemia, hypochromic" MONDO:0020721 oboInOwl:hasRelatedSynonym "anemia, hereditary sideroblastic" +MONDO:0020721 oboInOwl:hasRelatedSynonym "anemia hereditary sideroblastic" +MONDO:0020721 oboInOwl:hasRelatedSynonym "anemia, sideroblastic, X-linked" MONDO:0020721 oboInOwl:hasRelatedSynonym "anemia sex-linked hypochromic sideroblastic" MONDO:0020721 oboInOwl:hasRelatedSynonym "SIDBA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020721 oboInOwl:hasRelatedSynonym "ANH1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020721 oboInOwl:hasRelatedSynonym "anemia hereditary sideroblastic" -MONDO:0020721 oboInOwl:hasRelatedSynonym "anemia, sideroblastic, 1" MONDO:0020721 oboInOwl:hasRelatedSynonym "X chromosome-linked sideroblastic anemia" +MONDO:0020721 oboInOwl:hasRelatedSynonym "ANH1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020721 oboInOwl:hasRelatedSynonym "hereditary iron-loading Anemia" -MONDO:0020721 oboInOwl:hasRelatedSynonym "sideroblastic anemia X-linked" -MONDO:0020721 oboInOwl:hasRelatedSynonym "erythroid 5-aminolevulinate synthase deficiency" -MONDO:0020721 oboInOwl:hasRelatedSynonym "anemia, sideroblastic, X-linked" +MONDO:0020721 oboInOwl:hasRelatedSynonym "anemia, sideroblastic, 1" MONDO:0008226 oboInOwl:hasRelatedSynonym "periodontitis, aggressive, 1" MONDO:0008226 oboInOwl:hasRelatedSynonym "periodontitis, juvenile" MONDO:0008226 oboInOwl:hasRelatedSynonym "periodontitis, prepubertal" @@ -75326,8 +75297,8 @@ MONDO:0043543 oboInOwl:hasRelatedSynonym "hospital-acquired conditions" MONDO:0043543 oboInOwl:hasRelatedSynonym "hospital-acquired condition" MONDO:0043543 oboInOwl:hasRelatedSynonym "diseases, iatrogenic" MONDO:0043543 oboInOwl:hasRelatedSynonym "condition, hospital-acquired" -MONDO:0043543 oboInOwl:hasRelatedSynonym "disease, iatrogenic" MONDO:0043543 oboInOwl:hasRelatedSynonym "hospital acquired condition" +MONDO:0043543 oboInOwl:hasRelatedSynonym "disease, iatrogenic" MONDO:0043543 oboInOwl:hasRelatedSynonym "conditions, hospital-acquired" MONDO:0016112 oboInOwl:hasRelatedSynonym "cytoplasmic body myopathy" MONDO:0004128 oboInOwl:hasRelatedSynonym "occult large cell carcinoma of lung" @@ -75476,10 +75447,10 @@ MONDO:0008422 oboInOwl:hasRelatedSynonym "anemia, sideroblastic, autosomal domin MONDO:0008422 oboInOwl:hasRelatedSynonym "anemia, sideroblastic, 4" MONDO:0012085 oboInOwl:hasRelatedSynonym "ciliary dyskinesia, primary, 3" MONDO:0012085 oboInOwl:hasRelatedSynonym "ciliary dyskinesia, primary, 3, with or without situs inversus" +MONDO:0009659 oboInOwl:hasRelatedSynonym "MPS 4A" MONDO:0009659 oboInOwl:hasRelatedSynonym "MPS IVA" -MONDO:0009659 oboInOwl:hasRelatedSynonym "mucopolysaccharidosis, type IVA" MONDO:0009659 oboInOwl:hasRelatedSynonym "mucopolysaccharidosis, type 4A" -MONDO:0009659 oboInOwl:hasRelatedSynonym "MPS 4A" +MONDO:0009659 oboInOwl:hasRelatedSynonym "mucopolysaccharidosis, type IVA" MONDO:0021829 oboInOwl:hasRelatedSynonym "agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment" MONDO:0021829 oboInOwl:hasRelatedSynonym "Plurimalformative syndrome" MONDO:0007225 oboInOwl:hasRelatedSynonym "fibular aplasia ectrodactyly" @@ -75604,9 +75575,8 @@ MONDO:0016239 oboInOwl:hasRelatedSynonym "Cystinoses" MONDO:0016239 oboInOwl:hasRelatedSynonym "cystine disease" MONDO:0018871 oboInOwl:hasRelatedSynonym "AML-M4" MONDO:0018871 oboInOwl:hasRelatedSynonym "acute myeloblastic leukemia type 4" -MONDO:0007785 oboInOwl:hasRelatedSynonym "Euthryroidal hyperthyroxinemia 2" -MONDO:0007785 oboInOwl:hasRelatedSynonym "dystransthyretinemic Euthyroidal hyperthyroxinemia" -MONDO:0007785 oboInOwl:hasRelatedSynonym "dystransthyretinemic hyperthyroxinemia" +MONDO:0007785 oboInOwl:hasRelatedSynonym "euthryroidal hyperthyroxinemia 2" +MONDO:0007785 oboInOwl:hasRelatedSynonym "dystransthyretinemic ethyroidal hyperthyroxinemia" MONDO:0007785 oboInOwl:hasRelatedSynonym "DTTRH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007785 oboInOwl:hasRelatedSynonym "hyperthyroxinemia, Dysprealbuminemic" MONDO:0007438 oboInOwl:hasRelatedSynonym "sclerotic bones with dentin dysplasia" @@ -75689,15 +75659,15 @@ MONDO:0013440 oboInOwl:hasRelatedSynonym "muscular dystrophy, limb-girdle, type MONDO:0013526 oboInOwl:hasRelatedSynonym "epilepsy, progressive myoclonic, 6" MONDO:0019804 oboInOwl:hasRelatedSynonym "tracheomalacia, congenital" MONDO:0019804 oboInOwl:hasRelatedSynonym "type 1 tracheomalacia" -MONDO:0007950 oboInOwl:hasRelatedSynonym "MAST cell disease" MONDO:0007950 oboInOwl:hasRelatedSynonym "urticaria pigmentosa" +MONDO:0007950 oboInOwl:hasRelatedSynonym "MAST cell disease" MONDO:0010271 oboInOwl:hasRelatedSynonym "myotubular myopathy with abnormal genital development" -MONDO:0012124 oboInOwl:hasRelatedSynonym "sudden infant death with dysgenesis of the testes syndrome" -MONDO:0012124 oboInOwl:hasRelatedSynonym "sudden infant death - dysgenesis of the testes" MONDO:0054801 oboInOwl:hasRelatedSynonym "erythrocytosis, Beta-globin type" MONDO:0054801 oboInOwl:hasRelatedSynonym "ECYT6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054801 oboInOwl:hasRelatedSynonym "polycythemia, Beta-globin type" MONDO:0054801 oboInOwl:hasRelatedSynonym "erythrocytosis, FAMILIAL, 6" +MONDO:0012124 oboInOwl:hasRelatedSynonym "sudden infant death with dysgenesis of the testes syndrome" +MONDO:0012124 oboInOwl:hasRelatedSynonym "sudden infant death - dysgenesis of the testes" MONDO:0012767 oboInOwl:hasRelatedSynonym "macular degeneration, age-related, 11" MONDO:0014881 oboInOwl:hasRelatedSynonym "short stature, developmental delay, and congenital heart defects" MONDO:0014881 oboInOwl:hasRelatedSynonym "SDDHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -76060,8 +76030,8 @@ MONDO:0003581 oboInOwl:hasRelatedSynonym "embryonal carcinoma" MONDO:0032616 oboInOwl:hasRelatedSynonym "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10" MONDO:0032616 oboInOwl:hasRelatedSynonym "MC1DN10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011951 oboInOwl:hasRelatedSynonym "amyotrophic lateral sclerosis 6 with or without frontotemporal dementia" -MONDO:0044816 oboInOwl:hasRelatedSynonym "genetic torsion dystonia" MONDO:0010493 oboInOwl:hasRelatedSynonym "DBA14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0044816 oboInOwl:hasRelatedSynonym "genetic torsion dystonia" MONDO:0024455 oboInOwl:hasRelatedSynonym "fetal face syndrome" MONDO:0024455 oboInOwl:hasRelatedSynonym "Robinow dwarfism" MONDO:0024455 oboInOwl:hasRelatedSynonym "acral dysostosis with Facial and genital abnormalities" @@ -76537,8 +76507,8 @@ MONDO:0001246 oboInOwl:hasRelatedSynonym "prison fever" MONDO:0001246 oboInOwl:hasRelatedSynonym "hospital fever" MONDO:0001246 oboInOwl:hasRelatedSynonym "flea-borne rickettsiosis" MONDO:0001246 oboInOwl:hasRelatedSynonym "ship fever" -MONDO:0001246 oboInOwl:hasRelatedSynonym "exanthematous typhus" MONDO:0001246 oboInOwl:hasRelatedSynonym "European typhus" +MONDO:0001246 oboInOwl:hasRelatedSynonym "exanthematous typhus" MONDO:0001246 oboInOwl:hasRelatedSynonym "louse-borne rickettsiosis" MONDO:0001246 oboInOwl:hasRelatedSynonym "famine fever" MONDO:0001246 oboInOwl:hasRelatedSynonym "Mexican typhus" @@ -76611,14 +76581,14 @@ MONDO:0012900 oboInOwl:hasRelatedSynonym "RCM3" http://purl.obolibrary.org/obo/m HsapDv:0000091 oboInOwl:hasRelatedSynonym "Middle Aged + Aged" CHEBI:85234 oboInOwl:hasRelatedSynonym "human blood serum metabolites" GO:0016651 oboInOwl:hasRelatedSynonym "oxidoreductase activity, acting on NADH or NADPH" -MONDO:0010785 oboInOwl:hasRelatedSynonym "maternally inherited diabetes and deafness" MONDO:0010785 oboInOwl:hasRelatedSynonym "diabetes-deafness syndrome, maternally Transmitted" +MONDO:0010785 oboInOwl:hasRelatedSynonym "noninsulin-dependent diabetes mellitus with deafness" MONDO:0010785 oboInOwl:hasRelatedSynonym "Niddm with deafness" -MONDO:0010785 oboInOwl:hasRelatedSynonym "diabetes and deafness, maternally inherited" MONDO:0010785 oboInOwl:hasRelatedSynonym "diabetes mellitus, type II, with deafness" -MONDO:0010785 oboInOwl:hasRelatedSynonym "diabetes mellitus type II with deafness" +MONDO:0010785 oboInOwl:hasRelatedSynonym "maternally inherited diabetes and deafness" +MONDO:0010785 oboInOwl:hasRelatedSynonym "diabetes and deafness, maternally inherited" MONDO:0010785 oboInOwl:hasRelatedSynonym "Ballinger-Wallace syndrome" -MONDO:0010785 oboInOwl:hasRelatedSynonym "noninsulin-dependent diabetes mellitus with deafness" +MONDO:0010785 oboInOwl:hasRelatedSynonym "diabetes mellitus type II with deafness" MONDO:0010785 oboInOwl:hasRelatedSynonym "Ballinger Wallace syndrome" NCBITaxon:137207 oboInOwl:hasRelatedSynonym "Oligoryzomys longicaudus" http://purl.obolibrary.org/obo/ncbitaxon#synonym MONDO:0023679 oboInOwl:hasRelatedSynonym "Hematohidrosis" @@ -76758,8 +76728,8 @@ MONDO:0010520 oboInOwl:hasRelatedSynonym "ATS" http://purl.obolibrary.org/obo/mo MONDO:0010520 oboInOwl:hasRelatedSynonym "hemorrhagic familial nephritis" MONDO:0010520 oboInOwl:hasRelatedSynonym "congenital hereditary hematuria" MONDO:0021923 oboInOwl:hasRelatedSynonym "bilateral anophthalmia, esophageal atresia, and right cryptorchidism" -MONDO:0032787 oboInOwl:hasRelatedSynonym "HPE12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032787 oboInOwl:hasRelatedSynonym "HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS" +MONDO:0032787 oboInOwl:hasRelatedSynonym "HPE12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009085 oboInOwl:hasRelatedSynonym "deafness, congenital, with vitiligo and achalasia" MONDO:0009085 oboInOwl:hasRelatedSynonym "congenital deafness with vitiligo and achalasia" MONDO:0009085 oboInOwl:hasRelatedSynonym "deafness vitiligo achalasia" @@ -76769,8 +76739,8 @@ MONDO:0008972 oboInOwl:hasRelatedSynonym "chondrodysplasia punctata, rhizomelic MONDO:0018912 oboInOwl:hasRelatedSynonym "adrenal hyperfunction resulting from pituitary ACTH excess" MONDO:0018912 oboInOwl:hasRelatedSynonym "ectopic adrenocorticotropic hormone syndrome" MONDO:0018912 oboInOwl:hasRelatedSynonym "nodular primary adrenocortical dysplasia" -MONDO:0012339 oboInOwl:hasRelatedSynonym "susceptibility to celiac disease 4" MONDO:0012339 oboInOwl:hasRelatedSynonym "gluten-sensitive enteropathy, susceptibility to, 4" +MONDO:0012339 oboInOwl:hasRelatedSynonym "susceptibility to celiac disease 4" MONDO:0012339 oboInOwl:hasRelatedSynonym "CELIAC4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054832 oboInOwl:hasRelatedSynonym "PPCD4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054832 oboInOwl:hasRelatedSynonym "corneal dystrophy, POSTERIOR polymorphous, 4" @@ -77112,11 +77082,11 @@ MONDO:0014716 oboInOwl:hasRelatedSynonym "macrocephaly, seizures, mental retarda MONDO:0010495 oboInOwl:hasRelatedSynonym "TTD5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009281 oboInOwl:hasRelatedSynonym "glutaric aciduria type I" MONDO:0009281 oboInOwl:hasRelatedSynonym "glutaric aciduria 1" -MONDO:0009281 oboInOwl:hasRelatedSynonym "glutaric acidemia 1" MONDO:0009281 oboInOwl:hasRelatedSynonym "Ga 1" -MONDO:0009281 oboInOwl:hasRelatedSynonym "glutaric acidemia, type 1" MONDO:0009281 oboInOwl:hasRelatedSynonym "glutaric acidemia I" MONDO:0009281 oboInOwl:hasRelatedSynonym "glutaric acidemia type I" +MONDO:0009281 oboInOwl:hasRelatedSynonym "glutaric acidemia, type 1" +MONDO:0009281 oboInOwl:hasRelatedSynonym "glutaric acidemia 1" MONDO:0020560 oboInOwl:hasRelatedSynonym "rhabdoid tumor predisposition syndrome" GO:0000781 oboInOwl:hasRelatedSynonym "telomere" NCBITaxon:1279 oboInOwl:hasRelatedSynonym "Aurococcus" http://purl.obolibrary.org/obo/ncbitaxon#synonym @@ -77152,8 +77122,6 @@ MONDO:0033043 oboInOwl:hasRelatedSynonym "spastic ataxia 8" MONDO:0014580 oboInOwl:hasRelatedSynonym "mental retardation, autosomal dominant 33" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014580 oboInOwl:hasRelatedSynonym "autosomal dominant non-syndromic intellectual disability 33" MONDO:0022057 oboInOwl:hasRelatedSynonym "CEOT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0054804 oboInOwl:hasRelatedSynonym "microcephaly 21, PRIMARY, autosomal recessive" -MONDO:0054804 oboInOwl:hasRelatedSynonym "MCPH21" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011485 oboInOwl:hasRelatedSynonym "LI3, formerly" MONDO:0011485 oboInOwl:hasRelatedSynonym "type 3 lamellar ichthyosis" MONDO:0011485 oboInOwl:hasRelatedSynonym "ichthyosis, lamellar, 3, formerly" @@ -77167,6 +77135,8 @@ MONDO:0011485 oboInOwl:hasRelatedSynonym "ichthyosis, congenital, autosomal rece MONDO:0011485 oboInOwl:hasRelatedSynonym "ichthyosis lamellar 3" MONDO:0011485 oboInOwl:hasRelatedSynonym "ichthyosis, Nonlamellar and Nonerythrodermic, congenital, autosomal recessive" MONDO:0012127 oboInOwl:hasRelatedSynonym "limb-girdle muscular dystrophy type 2J" +MONDO:0054804 oboInOwl:hasRelatedSynonym "microcephaly 21, PRIMARY, autosomal recessive" +MONDO:0054804 oboInOwl:hasRelatedSynonym "MCPH21" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013685 oboInOwl:hasRelatedSynonym "susceptibility to pancreatic cancer 4" MONDO:0013685 oboInOwl:hasRelatedSynonym "PNCA4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009470 oboInOwl:hasRelatedSynonym "cerebrooculofacial lymphatic syndrome" @@ -77247,9 +77217,9 @@ MONDO:0008120 oboInOwl:hasRelatedSynonym "OPCA 3" MONDO:0008120 oboInOwl:hasRelatedSynonym "olivopontocerebellar atrophy 3" MONDO:0008120 oboInOwl:hasRelatedSynonym "OPCA with retinal Degeneration" MONDO:0008120 oboInOwl:hasRelatedSynonym "OPCA with macular Degeneration and external ophthalmoplegia" -MONDO:0020610 oboInOwl:hasRelatedSynonym "Diego Blood Group System" -MONDO:0020610 oboInOwl:hasRelatedSynonym "DI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020610 oboInOwl:hasRelatedSynonym "BLOOD GROUP, DIEGO SYSTEM" +MONDO:0020610 oboInOwl:hasRelatedSynonym "DI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020610 oboInOwl:hasRelatedSynonym "Diego Blood Group System" NCBITaxon:747 oboInOwl:hasRelatedSynonym "Pasteurella gallicida" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:747 oboInOwl:hasRelatedSynonym "Bacterium multocidum" http://purl.obolibrary.org/obo/ncbitaxon#synonym NCBITaxon:747 oboInOwl:hasRelatedSynonym "Micrococcus gallicidus" http://purl.obolibrary.org/obo/ncbitaxon#synonym @@ -77261,13 +77231,13 @@ MONDO:0016368 oboInOwl:hasRelatedSynonym "ROTHMUND-THOMSON SYNDROME, TYPE 1" MONDO:0016368 oboInOwl:hasRelatedSynonym "Poikiloderma Atrophicans and Cataract" MONDO:0000453 oboInOwl:hasRelatedSynonym "familial short QT syndrome" GO:0030210 oboInOwl:hasRelatedSynonym "heparan sulfate biosynthetic process" -MONDO:0009732 oboInOwl:hasRelatedSynonym "nephrosis, congenital" -MONDO:0009732 oboInOwl:hasRelatedSynonym "nephrotic syndrome, congenital" MONDO:0009732 oboInOwl:hasRelatedSynonym "nephrosis 1, congenital, Finnish type" -MONDO:0009732 oboInOwl:hasRelatedSynonym "nephrotic syndrome, type 1" -MONDO:0009732 oboInOwl:hasRelatedSynonym "NPHS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009732 oboInOwl:hasRelatedSynonym "nephrotic syndrome, congenital" MONDO:0009732 oboInOwl:hasRelatedSynonym "CnF" +MONDO:0009732 oboInOwl:hasRelatedSynonym "nephrosis, congenital" +MONDO:0009732 oboInOwl:hasRelatedSynonym "nephrotic syndrome, type 1" MONDO:0009732 oboInOwl:hasRelatedSynonym "congenital nephrotic syndrome 1" +MONDO:0009732 oboInOwl:hasRelatedSynonym "NPHS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009732 oboInOwl:hasRelatedSynonym "congenital nephrotic syndrome Finnish type" MONDO:0010944 oboInOwl:hasRelatedSynonym "MSF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017746 oboInOwl:hasRelatedSynonym "Rett like syndrome" @@ -77340,8 +77310,8 @@ MONDO:0007346 oboInOwl:hasRelatedSynonym "Cochleosaccular Degeneration" MONDO:0007346 oboInOwl:hasRelatedSynonym "Cochleosaccular degeneration of the inner ear and progressive cataracts" MONDO:0007346 oboInOwl:hasRelatedSynonym "Cochleosaccular Degeneration of the inner Ear with progressive cataracts" MONDO:0014385 oboInOwl:hasRelatedSynonym "amelogenesis imperfecta, hypomaturation type, IIA5" -MONDO:0020612 oboInOwl:hasRelatedSynonym "Kidd Blood Group System" MONDO:0020612 oboInOwl:hasRelatedSynonym "JK" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020612 oboInOwl:hasRelatedSynonym "Kidd Blood Group System" MONDO:0020612 oboInOwl:hasRelatedSynonym "BLOOD GROUP, KIDD SYSTEM" MONDO:0008426 oboInOwl:hasRelatedSynonym "Marfanoid disorder with craniosynostosis type 1" MONDO:0008426 oboInOwl:hasRelatedSynonym "Marfanoid disorder with craniosynostosis, type 1" @@ -77690,9 +77660,9 @@ MONDO:0007145 oboInOwl:hasRelatedSynonym "ACC" http://purl.obolibrary.org/obo/mo MONDO:0007145 oboInOwl:hasRelatedSynonym "scalp defect, congenital" MONDO:0007145 oboInOwl:hasRelatedSynonym "aplasia cutis congenita, nonsyndromic" MONDO:0007145 oboInOwl:hasRelatedSynonym "congenital defect of skull and scalp" +MONDO:0005833 oboInOwl:hasRelatedSynonym "disorder of lymphoid system" MONDO:0005833 oboInOwl:hasRelatedSynonym "lympoid system disease" MONDO:0005833 oboInOwl:hasRelatedSynonym "adenopathy" -MONDO:0005833 oboInOwl:hasRelatedSynonym "disorder of lymphoid system" MONDO:0005833 oboInOwl:hasRelatedSynonym "disease of lympoid system" MONDO:0011369 oboInOwl:hasRelatedSynonym "HCHOLA3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011369 oboInOwl:hasRelatedSynonym "low density lipoprotein cholesterol level quantitative trait locus 1" @@ -77807,7 +77777,6 @@ MONDO:0007817 oboInOwl:hasRelatedSynonym "atopy, susceptibility to" MONDO:0007817 oboInOwl:hasRelatedSynonym "IgE responsiveness, ATOPIC" MONDO:0007817 oboInOwl:hasRelatedSynonym "IgE, level of" MONDO:0007817 oboInOwl:hasRelatedSynonym "IgE response underlying allergic asthma and rhinitis" -MONDO:0007817 oboInOwl:hasRelatedSynonym "IgE, elevated level of" MONDO:0007817 oboInOwl:hasRelatedSynonym "IGER" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007817 oboInOwl:hasRelatedSynonym "Atopic hypersensitivity" MONDO:0007817 oboInOwl:hasRelatedSynonym "Immunoglobulin E, basic level of, in serum" @@ -78111,7 +78080,6 @@ MONDO:0011319 oboInOwl:hasRelatedSynonym "ribosomal Protein L21 pseudogene 1" MONDO:0010497 oboInOwl:hasRelatedSynonym "MRX102" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010497 oboInOwl:hasRelatedSynonym "DDX3X-related intellectual disability" MONDO:0010497 oboInOwl:hasRelatedSynonym "mental retardation, X-linked 102" http://purl.obolibrary.org/obo/mondo#DEPRECATED -MONDO:0009283 oboInOwl:hasRelatedSynonym "glutaric acidemia type III" MONDO:0009283 oboInOwl:hasRelatedSynonym "glutaric aciduria III" MONDO:0009283 oboInOwl:hasRelatedSynonym "glutaric aciduria 3" MONDO:0009283 oboInOwl:hasRelatedSynonym "Ga 3" @@ -78119,6 +78087,7 @@ MONDO:0009283 oboInOwl:hasRelatedSynonym "GA III" MONDO:0009283 oboInOwl:hasRelatedSynonym "glutaryl-Coa oxidase deficiency" MONDO:0009283 oboInOwl:hasRelatedSynonym "GA3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009283 oboInOwl:hasRelatedSynonym "glutaric aciduria type III" +MONDO:0009283 oboInOwl:hasRelatedSynonym "glutaric acidemia type III" MONDO:0020562 oboInOwl:hasRelatedSynonym "PLLS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005691 oboInOwl:hasRelatedSynonym "infection, Cardiovirus" MONDO:0005691 oboInOwl:hasRelatedSynonym "Cardiovirus infection" @@ -78165,13 +78134,12 @@ CHEBI:17310 oboInOwl:hasRelatedSynonym "pyridoxaldehyde" CHEBI:17310 oboInOwl:hasRelatedSynonym "3-HYDROXY-5-(HYDROXYMETHYL)-2-METHYLISONICOTINALDEHYDE" MONDO:0014582 oboInOwl:hasRelatedSynonym "myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency" MONDO:0011900 oboInOwl:hasRelatedSynonym "porokeratosis, disseminated superficial actinic, 2" -MONDO:0019683 oboInOwl:hasRelatedSynonym "SPD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:83056 oboInOwl:hasRelatedSynonym "Daphnia magna metabolites" MONDO:0011487 oboInOwl:hasRelatedSynonym "Huntington disease-like neurodegenerative disorder, autosomal recessive" MONDO:0012129 oboInOwl:hasRelatedSynonym "LACH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020620 oboInOwl:hasRelatedSynonym "Ss Blood Group" -MONDO:0020620 oboInOwl:hasRelatedSynonym "Ss" MONDO:0020620 oboInOwl:hasRelatedSynonym "BLOOD GROUP, Ss" +MONDO:0020620 oboInOwl:hasRelatedSynonym "Ss" MONDO:0054806 oboInOwl:hasRelatedSynonym "MCPH23" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054806 oboInOwl:hasRelatedSynonym "microcephaly 23, PRIMARY, autosomal recessive" MONDO:0013687 oboInOwl:hasRelatedSynonym "spinocerebellar ataxia with intellectual disability and epilepsy" @@ -78341,9 +78309,9 @@ CHEBI:75603 oboInOwl:hasRelatedSynonym "ligase inhibitors" CHEBI:75603 oboInOwl:hasRelatedSynonym "EC 6.*.*.* inhibitors" MONDO:0014387 oboInOwl:hasRelatedSynonym "LKENP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003448 oboInOwl:hasRelatedSynonym "spiroma/spiradenoma" +MONDO:0020614 oboInOwl:hasRelatedSynonym "Auberger System" MONDO:0020614 oboInOwl:hasRelatedSynonym "LU" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020614 oboInOwl:hasRelatedSynonym "BLOOD GROUP--LUTHERAN SYSTEM" -MONDO:0020614 oboInOwl:hasRelatedSynonym "Auberger System" NCBITaxon:2560525 oboInOwl:hasRelatedSynonym "human parainfluenza virus" http://purl.obolibrary.org/obo/ncbitaxon#in_part NCBITaxon:2560525 oboInOwl:hasRelatedSynonym "Human rubulavirus 2" http://purl.obolibrary.org/obo/ncbitaxon#synonym GO:0006911 oboInOwl:hasRelatedSynonym "phagosome formation" @@ -78539,15 +78507,8 @@ NCBITaxon:29031 oboInOwl:hasRelatedSynonym "Phlebotomus papatasii" http://purl.o NCBITaxon:29031 oboInOwl:hasRelatedSynonym "Phlebotomus (Phlebotomus) papatasi" http://purl.obolibrary.org/obo/ncbitaxon#synonym MONDO:0008710 oboInOwl:hasRelatedSynonym "CRPT1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008710 oboInOwl:hasRelatedSynonym "CARPENTER syndrome 1" -MONDO:0020800 oboInOwl:hasRelatedSynonym "Demyelinating Disease of Central Nervous System" -MONDO:0020800 oboInOwl:hasRelatedSynonym "Demyelinating disease central nervous system (CNS)" -MONDO:0020800 oboInOwl:hasRelatedSynonym "demyelinating disease central nervous system (cns)" -MONDO:0020800 oboInOwl:hasRelatedSynonym "Demyelinating CNS disease" -MONDO:0020800 oboInOwl:hasRelatedSynonym "demyelinating disorders of the central nervous system" -MONDO:0020800 oboInOwl:hasRelatedSynonym "Demyelinating Disorder of Central Nervous System" -MONDO:0020800 oboInOwl:hasRelatedSynonym "Demyelinating disorders of the central nervous system" -MONDO:0020800 oboInOwl:hasRelatedSynonym "Demyelinating disease of central nervous system" -MONDO:0020800 oboInOwl:hasRelatedSynonym "demyelinating cns disease" +MONDO:0010498 oboInOwl:hasRelatedSynonym "MEND" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010498 oboInOwl:hasRelatedSynonym "Male EBP disorder with neurologic defects" MONDO:0018924 oboInOwl:hasRelatedSynonym "Lenz dysplasia" MONDO:0018924 oboInOwl:hasRelatedSynonym "microphthalmia or anophthalmos with associated anomalies (formerly)" MONDO:0018924 oboInOwl:hasRelatedSynonym "syndromic microphthalmia type 1" @@ -78555,8 +78516,6 @@ MONDO:0018924 oboInOwl:hasRelatedSynonym "microphthalmia syndromic 1" MONDO:0018924 oboInOwl:hasRelatedSynonym "MCOPS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018924 oboInOwl:hasRelatedSynonym "microphthalmia Lenz type" MONDO:0018924 oboInOwl:hasRelatedSynonym "MAA (formerly)" -MONDO:0010498 oboInOwl:hasRelatedSynonym "MEND" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010498 oboInOwl:hasRelatedSynonym "Male EBP disorder with neurologic defects" MONDO:0003765 oboInOwl:hasRelatedSynonym "melanoma of the adult leptomeninges" CHEBI:83820 oboInOwl:hasRelatedSynonym "non-proteinogenic amino-acid" CHEBI:83820 oboInOwl:hasRelatedSynonym "non-proteinogenic amino-acids" @@ -78583,11 +78542,11 @@ MONDO:0007849 oboInOwl:hasRelatedSynonym "KERATOENDOTHELIITIS fugax hereditaria" MONDO:0007051 oboInOwl:hasRelatedSynonym "thick lips and oral mucosa" MONDO:0007051 oboInOwl:hasRelatedSynonym "AFA syndrome" MONDO:0020784 oboInOwl:hasRelatedSynonym "Short Sleep Phenotype" -MONDO:0020784 oboInOwl:hasRelatedSynonym "SHORT SLEEP, FAMILIAL NATURAL, 1" MONDO:0020784 oboInOwl:hasRelatedSynonym "FNSS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014029 oboInOwl:hasRelatedSynonym "osteogenesis imperfecta, type 14" +MONDO:0020784 oboInOwl:hasRelatedSynonym "SHORT SLEEP, FAMILIAL NATURAL, 1" MONDO:0014029 oboInOwl:hasRelatedSynonym "osteogenesis imperfecta, type XIV" MONDO:0014029 oboInOwl:hasRelatedSynonym "OI, type 14" +MONDO:0014029 oboInOwl:hasRelatedSynonym "osteogenesis imperfecta, type 14" MONDO:0009650 oboInOwl:hasRelatedSynonym "mucolipidosis II alpha/beta" MONDO:0009650 oboInOwl:hasRelatedSynonym "Leroy disease" MONDO:0009650 oboInOwl:hasRelatedSynonym "ML 2 Alpha/Beta" @@ -78600,9 +78559,9 @@ MONDO:0009650 oboInOwl:hasRelatedSynonym "inclusion cell disease" MONDO:0009650 oboInOwl:hasRelatedSynonym "GNPTA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009650 oboInOwl:hasRelatedSynonym "ML disorder type 2" CHEBI:83057 oboInOwl:hasRelatedSynonym "Daphnia metabolites" -MONDO:0020621 oboInOwl:hasRelatedSynonym "Scianna Blood Group" -MONDO:0020621 oboInOwl:hasRelatedSynonym "SC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020621 oboInOwl:hasRelatedSynonym "BLOOD GROUP--SCIANNA SYSTEM" +MONDO:0020621 oboInOwl:hasRelatedSynonym "SC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020621 oboInOwl:hasRelatedSynonym "Scianna Blood Group" MONDO:0025377 oboInOwl:hasRelatedSynonym "wart-Hog disease" MONDO:0025377 oboInOwl:hasRelatedSynonym "wart Hog disease" MONDO:0025377 oboInOwl:hasRelatedSynonym "swine fever, African" @@ -78816,8 +78775,8 @@ MONDO:0009089 oboInOwl:hasRelatedSynonym "deafness oligodontia syndrome" MONDO:0009956 oboInOwl:hasRelatedSynonym "Red skin pigment, New Guinea type" CHEBI:25362 oboInOwl:hasRelatedSynonym "homoatomic molecules" CHEBI:25362 oboInOwl:hasRelatedSynonym "homoatomic molecule" -MONDO:0026762 oboInOwl:hasRelatedSynonym "WRWFFR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0026762 oboInOwl:hasRelatedSynonym "WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED" +MONDO:0026762 oboInOwl:hasRelatedSynonym "WRWFFR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010233 oboInOwl:hasRelatedSynonym "heterotopia, periventricular nodular, with Frontometaphyseal dysplasia" MONDO:0010233 oboInOwl:hasRelatedSynonym "nodular heterotopia, bilateral periventricular" MONDO:0010233 oboInOwl:hasRelatedSynonym "periventricular nodular heterotopia 4" @@ -78890,12 +78849,13 @@ MONDO:0014388 oboInOwl:hasRelatedSynonym "OFC14" http://purl.obolibrary.org/obo/ MONDO:0014388 oboInOwl:hasRelatedSynonym "orofacial cleft 14" MONDO:0003796 oboInOwl:hasRelatedSynonym "rectum Kaposi's sarcoma" MONDO:0020615 oboInOwl:hasRelatedSynonym "Landsteiner-Wiener Blood Group System" -MONDO:0020615 oboInOwl:hasRelatedSynonym "LW" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020615 oboInOwl:hasRelatedSynonym "BLOOD GROUP SYSTEM, LANDSTEINER-WIENER" +MONDO:0020615 oboInOwl:hasRelatedSynonym "LW" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011861 oboInOwl:hasRelatedSynonym "Bhs" GO:0044145 oboInOwl:hasRelatedSynonym "modulation of development of symbiont involved in interaction with host" GO:0044145 oboInOwl:hasRelatedSynonym "modulation of development of symbiont during interaction with host" MONDO:0018001 oboInOwl:hasRelatedSynonym "inverse Klippel-Trénaunay syndrome" +MONDO:0008767 oboInOwl:hasRelatedSynonym "neuronal ceroid lipofuscinosis, juvenile" MONDO:0008767 oboInOwl:hasRelatedSynonym "Vogt-Spielmeyer disease" MONDO:0008767 oboInOwl:hasRelatedSynonym "CLN3 disease" MONDO:0008767 oboInOwl:hasRelatedSynonym "batten disease" @@ -78903,7 +78863,6 @@ MONDO:0008767 oboInOwl:hasRelatedSynonym "ceroid lipofuscinosis, neuronal, 3" MONDO:0008767 oboInOwl:hasRelatedSynonym "Vogt Spielmeyer disease" MONDO:0008767 oboInOwl:hasRelatedSynonym "Spielmeyer Sjogren disease" MONDO:0008767 oboInOwl:hasRelatedSynonym "Spielmeyer-Sjogren disease" -MONDO:0008767 oboInOwl:hasRelatedSynonym "neuronal ceroid lipofuscinosis, juvenile" MONDO:0008767 oboInOwl:hasRelatedSynonym "CLN3 disease, juvenile" MONDO:0025114 oboInOwl:hasRelatedSynonym "infections, animal protozoan" MONDO:0025114 oboInOwl:hasRelatedSynonym "animal protozoan infections" @@ -78988,8 +78947,8 @@ MONDO:0007349 oboInOwl:hasRelatedSynonym "Fcas" MONDO:0007349 oboInOwl:hasRelatedSynonym "cold urticaria, familial" MONDO:0007349 oboInOwl:hasRelatedSynonym "cold hypersensitivity" MONDO:0007349 oboInOwl:hasRelatedSynonym "cold-induced autoinflammatory syndrome, familial" -MONDO:0002520 oboInOwl:hasRelatedSynonym "acute porphyria" MONDO:0002520 oboInOwl:hasRelatedSynonym "porphyria, hepatic" +MONDO:0002520 oboInOwl:hasRelatedSynonym "acute porphyria" MONDO:0002520 oboInOwl:hasRelatedSynonym "hepatic Porphyrias" MONDO:0013151 oboInOwl:hasRelatedSynonym "choroidal dystrophy, central areolar, with or without drusen" MONDO:0009987 oboInOwl:hasRelatedSynonym "retinopathy, pericentral pigmentary, autosomal recessive" @@ -79025,11 +78984,11 @@ MONDO:0010056 oboInOwl:hasRelatedSynonym "proximal spinal muscular atrophy type MONDO:0010056 oboInOwl:hasRelatedSynonym "spinal muscular atrophy 4" MONDO:0010056 oboInOwl:hasRelatedSynonym "SMA 4" MONDO:0010056 oboInOwl:hasRelatedSynonym "spinal muscular atrophy type 4" -MONDO:0032912 oboInOwl:hasRelatedSynonym "CSS11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0032912 oboInOwl:hasRelatedSynonym "COFFIN-SIRIS SYNDROME 11" MONDO:0011002 oboInOwl:hasRelatedSynonym "HMSN 6A" MONDO:0014225 oboInOwl:hasRelatedSynonym "iron overload, autosomal dominant" MONDO:0014225 oboInOwl:hasRelatedSynonym "hemochromatosis, type 5" +MONDO:0032912 oboInOwl:hasRelatedSynonym "CSS11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032912 oboInOwl:hasRelatedSynonym "COFFIN-SIRIS SYNDROME 11" MONDO:0013845 oboInOwl:hasRelatedSynonym "AURICULOCONDYLAR syndrome 2" MONDO:0013845 oboInOwl:hasRelatedSynonym "ARCND2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP:0000517 oboInOwl:hasRelatedSynonym "Lens disease" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -79246,8 +79205,8 @@ MONDO:0014397 oboInOwl:hasRelatedSynonym "combined oxidative phosphorylation def MONDO:0013143 oboInOwl:hasRelatedSynonym "thrombophilia due to histidine-rich glycoprotein deficiency" MONDO:0013143 oboInOwl:hasRelatedSynonym "THPH11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013143 oboInOwl:hasRelatedSynonym "thrombophilia due to elevated histidine-rich glycoprotein" -MONDO:0020624 oboInOwl:hasRelatedSynonym "Waldner Blood Group Antigen" MONDO:0020624 oboInOwl:hasRelatedSynonym "WD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020624 oboInOwl:hasRelatedSynonym "Waldner Blood Group Antigen" MONDO:0020624 oboInOwl:hasRelatedSynonym "BLOOD GROUP--WALDNER TYPE" MONDO:0011831 oboInOwl:hasRelatedSynonym "arrhythmogenic right ventricular dysplasia, familial, 8" MONDO:0024533 oboInOwl:hasRelatedSynonym "Pph1 with Hht" @@ -79304,8 +79263,8 @@ CHEBI:15022 oboInOwl:hasRelatedSynonym "donneur d'electron" CHEBI:15022 oboInOwl:hasRelatedSynonym "Elektronendonator" CHEBI:36963 oboInOwl:hasRelatedSynonym "organooxygen compounds" MONDO:0007911 oboInOwl:hasRelatedSynonym "Beta-lipoprotein, Double" -MONDO:0032904 oboInOwl:hasRelatedSynonym "MECD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032904 oboInOwl:hasRelatedSynonym "CORNEAL DYSTROPHY, MEESMANN, 2" +MONDO:0032904 oboInOwl:hasRelatedSynonym "MECD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP:0003398 oboInOwl:hasRelatedSynonym "Abnormality of neuromuscular transmission" MONDO:0008180 oboInOwl:hasRelatedSynonym "velopharyngeal incompetence" MONDO:0008180 oboInOwl:hasRelatedSynonym "palatopharyngeal incompetence" @@ -79402,8 +79361,8 @@ MONDO:0011862 oboInOwl:hasRelatedSynonym "spastic paraplegia 24" MONDO:0015285 oboInOwl:hasRelatedSynonym "Myxoma - spotty pigmentation - endocrine overactivity" MONDO:0016231 oboInOwl:hasRelatedSynonym "rare capillary malformation" GO:0090482 oboInOwl:hasRelatedSynonym "vitamin transporter activity" -MONDO:0002155 oboInOwl:hasRelatedSynonym "gallstone cholecystitis" NCBITaxon:422676 oboInOwl:hasRelatedSynonym "Hematozoa Vivier 1982" http://purl.obolibrary.org/obo/ncbitaxon#synonym +MONDO:0002155 oboInOwl:hasRelatedSynonym "gallstone cholecystitis" CHEBI:57934 oboInOwl:hasRelatedSynonym "beta-D-galactosyl-(1<->1)-sphing-4-enine" CHEBI:57934 oboInOwl:hasRelatedSynonym "(2S,3R,4E)-3-hydroxy-1-{[(2R,3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}octadec-4-en-2-aminium" MONDO:0010948 oboInOwl:hasRelatedSynonym "cataract, congenital zonular, with sutural opacities" @@ -79663,8 +79622,8 @@ MONDO:0019235 oboInOwl:hasRelatedSynonym "disorder of phenylalanin or tyrosine m MONDO:0020788 oboInOwl:hasRelatedSynonym "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2" MONDO:0020788 oboInOwl:hasRelatedSynonym "HOMGSMR2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011669 oboInOwl:hasRelatedSynonym "homozygous 2P16 deletion syndrome, formerly" -MONDO:0011669 oboInOwl:hasRelatedSynonym "homozygous 2P16 deletion syndrome" MONDO:0011669 oboInOwl:hasRelatedSynonym "homozygous 2P21 deletion syndrome" +MONDO:0011669 oboInOwl:hasRelatedSynonym "homozygous 2P16 deletion syndrome" MONDO:0006276 oboInOwl:hasRelatedSynonym "inflammatory myofibroblastic lung tumor" MONDO:0020389 oboInOwl:hasRelatedSynonym "pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome" CHEBI:37962 oboInOwl:hasRelatedSynonym "adrenergics" @@ -79675,18 +79634,28 @@ CHEBI:37962 oboInOwl:hasRelatedSynonym "adrenergic agents" CHEBI:83822 oboInOwl:hasRelatedSynonym "non-proteinogenic L-alpha-amino acids" MONDO:0014398 oboInOwl:hasRelatedSynonym "combined oxidative phosphorylation deficiency 21" MONDO:0020625 oboInOwl:hasRelatedSynonym "Wright Blood Group Antigen" -MONDO:0020625 oboInOwl:hasRelatedSynonym "WR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020625 oboInOwl:hasRelatedSynonym "BLOOD GROUP--WRIGHT ANTIGEN" +MONDO:0020625 oboInOwl:hasRelatedSynonym "WR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:62732 oboInOwl:hasRelatedSynonym "aromatic esters" -MONDO:0008250 oboInOwl:hasRelatedSynonym "pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant" -MONDO:0008250 oboInOwl:hasRelatedSynonym "isolated growth hormone deficiency type 2" -MONDO:0008250 oboInOwl:hasRelatedSynonym "IGHD 2" MONDO:0008250 oboInOwl:hasRelatedSynonym "IGHD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008250 oboInOwl:hasRelatedSynonym "isolated Growth hormone deficiency, type 2" MONDO:0008250 oboInOwl:hasRelatedSynonym "pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant" -MONDO:0008250 oboInOwl:hasRelatedSynonym "Growth hormone deficiency, isolated, autosomal dominant" MONDO:0008250 oboInOwl:hasRelatedSynonym "Growth hormone deficiency, isolated autosomal dominant" +MONDO:0008250 oboInOwl:hasRelatedSynonym "Growth hormone deficiency, isolated, autosomal dominant" +MONDO:0008250 oboInOwl:hasRelatedSynonym "IGHD 2" MONDO:0008250 oboInOwl:hasRelatedSynonym "isolated growth hormone deficiency, type II" +MONDO:0008250 oboInOwl:hasRelatedSynonym "isolated Growth hormone deficiency, type 2" +MONDO:0008250 oboInOwl:hasRelatedSynonym "pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant" +MONDO:0008250 oboInOwl:hasRelatedSynonym "isolated growth hormone deficiency type 2" +MONDO:0009723 oboInOwl:hasRelatedSynonym "Leigh syndrome due to mitochondrial Complex 4 deficiency" +MONDO:0009723 oboInOwl:hasRelatedSynonym "Leigh syndrome due to mitochondrial Complex 2 deficiency" +MONDO:0009723 oboInOwl:hasRelatedSynonym "SNE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009723 oboInOwl:hasRelatedSynonym "Leigh syndrome due to mitochondrial Complex 1 deficiency" +MONDO:0009723 oboInOwl:hasRelatedSynonym "Leigh's necrotizing encephalopathy" +MONDO:0009723 oboInOwl:hasRelatedSynonym "Leigh syndrome due to mitochondrial Complex 5 deficiency" +MONDO:0009723 oboInOwl:hasRelatedSynonym "subacute necrotizing encephalomyelopathy" +MONDO:0009723 oboInOwl:hasRelatedSynonym "Leigh syndrome due to mitochondrial Complex 3 deficiency" +MONDO:0009723 oboInOwl:hasRelatedSynonym "subacute necrotizing encephalopathy" +MONDO:0009723 oboInOwl:hasRelatedSynonym "necrotizing encephalopathy, infantile Subacute, of Leigh" CHEBI:17137 oboInOwl:hasRelatedSynonym "hydrosulfite anion" CHEBI:17137 oboInOwl:hasRelatedSynonym "hydrogen sulfite(1-)" CHEBI:17137 oboInOwl:hasRelatedSynonym "HSO3-" @@ -79700,16 +79669,6 @@ MONDO:0012908 oboInOwl:hasRelatedSynonym "C6D" http://purl.obolibrary.org/obo/mo MONDO:0012908 oboInOwl:hasRelatedSynonym "C6 deficiency, subtotal" MONDO:0012908 oboInOwl:hasRelatedSynonym "complement component 6 deficiency, subtotal" MONDO:0012908 oboInOwl:hasRelatedSynonym "C6 deficiency" -MONDO:0009723 oboInOwl:hasRelatedSynonym "Leigh syndrome due to mitochondrial Complex 4 deficiency" -MONDO:0009723 oboInOwl:hasRelatedSynonym "Leigh syndrome due to mitochondrial Complex 2 deficiency" -MONDO:0009723 oboInOwl:hasRelatedSynonym "SNE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009723 oboInOwl:hasRelatedSynonym "Leigh syndrome due to mitochondrial Complex 1 deficiency" -MONDO:0009723 oboInOwl:hasRelatedSynonym "Leigh's necrotizing encephalopathy" -MONDO:0009723 oboInOwl:hasRelatedSynonym "Leigh syndrome due to mitochondrial Complex 5 deficiency" -MONDO:0009723 oboInOwl:hasRelatedSynonym "subacute necrotizing encephalomyelopathy" -MONDO:0009723 oboInOwl:hasRelatedSynonym "Leigh syndrome due to mitochondrial Complex 3 deficiency" -MONDO:0009723 oboInOwl:hasRelatedSynonym "subacute necrotizing encephalopathy" -MONDO:0009723 oboInOwl:hasRelatedSynonym "necrotizing encephalopathy, infantile Subacute, of Leigh" MONDO:0010430 oboInOwl:hasRelatedSynonym "MRX97" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010430 oboInOwl:hasRelatedSynonym "Mrxz" MONDO:0010430 oboInOwl:hasRelatedSynonym "mental retardation, X-linked 97" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -79729,8 +79688,8 @@ MONDO:0008964 oboInOwl:hasRelatedSynonym "DIAR1" http://purl.obolibrary.org/obo/ MONDO:0008964 oboInOwl:hasRelatedSynonym "Chloridorrhea, congenital" MONDO:0008964 oboInOwl:hasRelatedSynonym "Darrow-gamble disease" MONDO:0008964 oboInOwl:hasRelatedSynonym "familial chloride diarrhea" -MONDO:0008964 oboInOwl:hasRelatedSynonym "chloride diarrhea, congenital, Finnish type" MONDO:0008964 oboInOwl:hasRelatedSynonym "CLD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008964 oboInOwl:hasRelatedSynonym "chloride diarrhea, congenital, Finnish type" MONDO:0008964 oboInOwl:hasRelatedSynonym "congenital chloride diarrhea" MONDO:0024534 oboInOwl:hasRelatedSynonym "DDD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024534 oboInOwl:hasRelatedSynonym "DDD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -79740,9 +79699,9 @@ MONDO:0012249 oboInOwl:hasRelatedSynonym "HNPCC2" http://purl.obolibrary.org/obo MONDO:0012249 oboInOwl:hasRelatedSynonym "colon cancer, familial nonpolyposis, type 2" MONDO:0032905 oboInOwl:hasRelatedSynonym "SPG81" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032905 oboInOwl:hasRelatedSynonym "SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE" -MONDO:0010088 oboInOwl:hasRelatedSynonym "juvenile sulfatidosis" MONDO:0010088 oboInOwl:hasRelatedSynonym "sulfatidosis juvenile, Austin type" MONDO:0010088 oboInOwl:hasRelatedSynonym "multiple sulfatase deficiency" +MONDO:0010088 oboInOwl:hasRelatedSynonym "juvenile sulfatidosis" MONDO:0011162 oboInOwl:hasRelatedSynonym "Cae3" MONDO:0011162 oboInOwl:hasRelatedSynonym "cataract 14, multiple types" MONDO:0011162 oboInOwl:hasRelatedSynonym "cataract, zonular pulverulent 3" @@ -79954,13 +79913,13 @@ MONDO:0014227 oboInOwl:hasRelatedSynonym "COLE disease" MONDO:0014227 oboInOwl:hasRelatedSynonym "guttate hypopigmentation" MONDO:0014227 oboInOwl:hasRelatedSynonym "COLED" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014227 oboInOwl:hasRelatedSynonym "punctate palmoplantar keratoderma with or without ectopic calcification" +MONDO:0008769 oboInOwl:hasRelatedSynonym "CLN2 disease" MONDO:0008769 oboInOwl:hasRelatedSynonym "CLN2 disease, juvenile (subtype)" MONDO:0008769 oboInOwl:hasRelatedSynonym "neuronal ceroid lipofuscinosis, late infantile" MONDO:0008769 oboInOwl:hasRelatedSynonym "ceroid lipofuscinosis, neuronal, 2" MONDO:0008769 oboInOwl:hasRelatedSynonym "Jansky-Bielschowsky disease" MONDO:0008769 oboInOwl:hasRelatedSynonym "ceroid lipofuscinosis, neuronal, 2, variable Age at onset" MONDO:0008769 oboInOwl:hasRelatedSynonym "CLN2 disease, late infantile (subtype)" -MONDO:0008769 oboInOwl:hasRelatedSynonym "CLN2 disease" MONDO:0013007 oboInOwl:hasRelatedSynonym "immunodeficiency 9" MONDO:0013007 oboInOwl:hasRelatedSynonym "IMD9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013007 oboInOwl:hasRelatedSynonym "immune dysfunction with T-cell inactivation due to calcium entry defect 1" @@ -80051,13 +80010,13 @@ MONDO:0009484 oboInOwl:hasRelatedSynonym "ciliary dyskinesia, primary, 1, with o MONDO:0009484 oboInOwl:hasRelatedSynonym "ciliary dyskinesia, primary, 1" MONDO:0009484 oboInOwl:hasRelatedSynonym "Kartagener syndrome" MONDO:0009484 oboInOwl:hasRelatedSynonym "dextrocardia, bronchiectasis, and sinusitis" -MONDO:0020787 oboInOwl:hasRelatedSynonym "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1" MONDO:0020787 oboInOwl:hasRelatedSynonym "HOMGSMR1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011668 oboInOwl:hasRelatedSynonym "type 6 maturity-onset diabetes of the young" -MONDO:0011668 oboInOwl:hasRelatedSynonym "MODY, type 6" -MONDO:0011668 oboInOwl:hasRelatedSynonym "MODY NEUROD1 related" +MONDO:0020787 oboInOwl:hasRelatedSynonym "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1" MONDO:0011668 oboInOwl:hasRelatedSynonym "maturity-onset diabetes of the young, type 6" MONDO:0011668 oboInOwl:hasRelatedSynonym "diabetes mellitus MODY type 6" +MONDO:0011668 oboInOwl:hasRelatedSynonym "type 6 maturity-onset diabetes of the young" +MONDO:0011668 oboInOwl:hasRelatedSynonym "MODY NEUROD1 related" +MONDO:0011668 oboInOwl:hasRelatedSynonym "MODY, type 6" MONDO:0003989 oboInOwl:hasRelatedSynonym "polyembryoma" MONDO:0010581 oboInOwl:hasRelatedSynonym "diabetes insipidus, nephrogenic, type 1" MONDO:0010581 oboInOwl:hasRelatedSynonym "Ndi" @@ -80273,15 +80232,15 @@ MONDO:0020741 oboInOwl:hasRelatedSynonym "Epd" MONDO:0020741 oboInOwl:hasRelatedSynonym "pyridoxine-dependent epilepsy" MONDO:0020741 oboInOwl:hasRelatedSynonym "pyridoxine dependency with seizures" MONDO:0020741 oboInOwl:hasRelatedSynonym "AASA dehydrogenase deficiency" -MONDO:0022754 oboInOwl:hasRelatedSynonym "partial monosomy 17p" MONDO:0022754 oboInOwl:hasRelatedSynonym "17p deletion" -MONDO:0022754 oboInOwl:hasRelatedSynonym "interstitial deletion 17p" -MONDO:0022754 oboInOwl:hasRelatedSynonym "17p- syndrome" MONDO:0022754 oboInOwl:hasRelatedSynonym "monosomy 17p" +MONDO:0022754 oboInOwl:hasRelatedSynonym "chromosome 17p deletion syndrome" +MONDO:0022754 oboInOwl:hasRelatedSynonym "partial monosomy 17p" +MONDO:0022754 oboInOwl:hasRelatedSynonym "17p- syndrome" MONDO:0022754 oboInOwl:hasRelatedSynonym "17p monosomy" +MONDO:0022754 oboInOwl:hasRelatedSynonym "interstitial deletion 17p" MONDO:0022754 oboInOwl:hasRelatedSynonym "deletion 17p syndrome" MONDO:0022754 oboInOwl:hasRelatedSynonym "deletion 17p" -MONDO:0022754 oboInOwl:hasRelatedSynonym "chromosome 17p deletion syndrome" MONDO:0009724 oboInOwl:hasRelatedSynonym "glomerular basement Membrane disease, nail-patella syndrome type" MONDO:0009724 oboInOwl:hasRelatedSynonym "nail patella like renal disease" MONDO:0007440 oboInOwl:hasRelatedSynonym "manic-depressive psychosis, autosomal" @@ -80526,8 +80485,8 @@ MONDO:0022208 oboInOwl:hasRelatedSynonym "Crystalline Arthropathy" MONDO:0022208 oboInOwl:hasRelatedSynonym "Crystalline arthritis" MONDO:0022208 oboInOwl:hasRelatedSynonym "Arthropathies, Crystalline" MONDO:0022208 oboInOwl:hasRelatedSynonym "Arthritis, Crystal" -MONDO:0019245 oboInOwl:hasRelatedSynonym "lipoidosis" MONDO:0019245 oboInOwl:hasRelatedSynonym "lipoidoses" +MONDO:0019245 oboInOwl:hasRelatedSynonym "lipoidosis" MONDO:0019245 oboInOwl:hasRelatedSynonym "lipidoses" MONDO:0019245 oboInOwl:hasRelatedSynonym "lipidosis" MONDO:0005799 oboInOwl:hasRelatedSynonym "infection, hookworm" @@ -80690,11 +80649,11 @@ MONDO:0020742 oboInOwl:hasRelatedSynonym "CAMFAK syndrome" MONDO:0020742 oboInOwl:hasRelatedSynonym "CAMAK syndrome" MONDO:0020742 oboInOwl:hasRelatedSynonym "cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome" MONDO:0020742 oboInOwl:hasRelatedSynonym "cataract-microcephaly-failure to thrive-kyphoscoliosis" +MONDO:0007055 oboInOwl:hasRelatedSynonym "acromicric skeletal dysplasia" +MONDO:0007055 oboInOwl:hasRelatedSynonym "ACMICD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0022755 oboInOwl:hasRelatedSynonym "Mosaic monosomy chromosome 18" MONDO:0022755 oboInOwl:hasRelatedSynonym "monosomy 18 mosaicism" MONDO:0022755 oboInOwl:hasRelatedSynonym "Mosaic monosomy 18" -MONDO:0007055 oboInOwl:hasRelatedSynonym "acromicric skeletal dysplasia" -MONDO:0007055 oboInOwl:hasRelatedSynonym "ACMICD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020321 oboInOwl:hasRelatedSynonym "AUL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010432 oboInOwl:hasRelatedSynonym "THPH8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010432 oboInOwl:hasRelatedSynonym "deep Venous thrombosis, protection against" @@ -80733,8 +80692,8 @@ MONDO:0000596 oboInOwl:hasRelatedSynonym "deviation, Sex" MONDO:0000596 oboInOwl:hasRelatedSynonym "Sex deviation" MONDO:0000596 oboInOwl:hasRelatedSynonym "Deviations, Sex" MONDO:0000596 oboInOwl:hasRelatedSynonym "Paraphilias" -MONDO:0012110 oboInOwl:hasRelatedSynonym "insulin-like growth Factor 1 deficiency" MONDO:0012110 oboInOwl:hasRelatedSynonym "insulin-like growth factor I deficiency" +MONDO:0012110 oboInOwl:hasRelatedSynonym "insulin-like growth Factor 1 deficiency" MONDO:0012110 oboInOwl:hasRelatedSynonym "growth retardation with sensorineural deafness and mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0012110 oboInOwl:hasRelatedSynonym "IGF1 deficiency" MONDO:0012110 oboInOwl:hasRelatedSynonym "growth retardation with sensorineural deafness and intellectual disability" @@ -81108,8 +81067,8 @@ MONDO:0002776 oboInOwl:hasRelatedSynonym "preauricular sinus or fistula" http:// MONDO:0002776 oboInOwl:hasRelatedSynonym "preauricular sinus and fistula (disorder)" http://purl.obolibrary.org/obo/mondo#DUBIOUS MONDO:0002776 oboInOwl:hasRelatedSynonym "preauricular sinus or fistula NOS (disorder)" http://purl.obolibrary.org/obo/mondo#DUBIOUS ENVO:01001293 oboInOwl:hasRelatedSynonym "the bush" -MONDO:0009212 oboInOwl:hasRelatedSynonym "factor 10 deficiency" MONDO:0009212 oboInOwl:hasRelatedSynonym "factor X deficiency" +MONDO:0009212 oboInOwl:hasRelatedSynonym "factor 10 deficiency" MONDO:0009212 oboInOwl:hasRelatedSynonym "factor X deficiency, congenital" MONDO:0009212 oboInOwl:hasRelatedSynonym "Stuart factor deficiency, congenital" MONDO:0009212 oboInOwl:hasRelatedSynonym "F10 deficiency" @@ -81297,10 +81256,10 @@ CHEBI:64049 oboInOwl:hasRelatedSynonym "acidity regulators" CHEBI:64049 oboInOwl:hasRelatedSynonym "acidity regulator" MONDO:0042601 oboInOwl:hasRelatedSynonym "Samson Gardner syndrome" MONDO:0042601 oboInOwl:hasRelatedSynonym "craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia" -MONDO:0020492 oboInOwl:hasRelatedSynonym "macrencephaly" MONDO:0007728 oboInOwl:hasRelatedSynonym "ACNINV1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007728 oboInOwl:hasRelatedSynonym "acne inversa, familial" MONDO:0007728 oboInOwl:hasRelatedSynonym "hidradenitis suppurativa, familial" +MONDO:0020492 oboInOwl:hasRelatedSynonym "macrencephaly" MONDO:0044217 oboInOwl:hasRelatedSynonym "asparagus, specific smell hypersensitivity" MONDO:0008967 oboInOwl:hasRelatedSynonym "Trihydroxycoprostanic acid in bile" MONDO:0008967 oboInOwl:hasRelatedSynonym "cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid" @@ -81497,13 +81456,13 @@ MONDO:0012669 oboInOwl:hasRelatedSynonym "neurofibromatosis type 1-like syndrome MONDO:0012669 oboInOwl:hasRelatedSynonym "neurofibromatosis type 1 like syndrome" CHEBI:50681 oboInOwl:hasRelatedSynonym "methotrexate" MONDO:0043199 oboInOwl:hasRelatedSynonym "Colavita Kozlowski syndrome" +CHEBI:35604 oboInOwl:hasRelatedSynonym "carbon oxoanions" +CHEBI:35604 oboInOwl:hasRelatedSynonym "oxocarbon anion" +CHEBI:35604 oboInOwl:hasRelatedSynonym "oxocarbon anions" MONDO:0013930 oboInOwl:hasRelatedSynonym "peroxisome biogenesis disorder, complementation group 6" MONDO:0013930 oboInOwl:hasRelatedSynonym "peroxisome biogenesis disorder, complementation group C" MONDO:0013930 oboInOwl:hasRelatedSynonym "peroxisome biogenesis disorder, complementation group 4" MONDO:0013930 oboInOwl:hasRelatedSynonym "PBD4A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -CHEBI:35604 oboInOwl:hasRelatedSynonym "carbon oxoanions" -CHEBI:35604 oboInOwl:hasRelatedSynonym "oxocarbon anion" -CHEBI:35604 oboInOwl:hasRelatedSynonym "oxocarbon anions" HP:0000271 oboInOwl:hasRelatedSynonym "Facial anomaly" HP:0000271 oboInOwl:hasRelatedSynonym "Anomaly of the face" HP:0000271 oboInOwl:hasRelatedSynonym "Anomaly of face" @@ -81658,9 +81617,9 @@ MONDO:0011601 oboInOwl:hasRelatedSynonym "citrullinemia, type II, neonatal-onset MONDO:0011601 oboInOwl:hasRelatedSynonym "neonatal-onset citrullinemia type 2" MONDO:0011601 oboInOwl:hasRelatedSynonym "cholestasis, neonatal intrahepatic, caused by citrin deficiency" MONDO:0009877 oboInOwl:hasRelatedSynonym "pituitary dwarfism 2" -MONDO:0009877 oboInOwl:hasRelatedSynonym "growth hormone insensitivity syndrome" -MONDO:0009877 oboInOwl:hasRelatedSynonym "Laron type pituitary dwarfism I" MONDO:0009877 oboInOwl:hasRelatedSynonym "pituitary dwarfism II" +MONDO:0009877 oboInOwl:hasRelatedSynonym "Laron type pituitary dwarfism I" +MONDO:0009877 oboInOwl:hasRelatedSynonym "growth hormone insensitivity syndrome" MONDO:0009877 oboInOwl:hasRelatedSynonym "Laron dwarfism" MONDO:0007790 oboInOwl:hasRelatedSynonym "hereditary motor and sensory neuropathy 3" MONDO:0007790 oboInOwl:hasRelatedSynonym "hypertrophic neuropathy of infancy" @@ -82117,6 +82076,7 @@ MONDO:0011480 oboInOwl:hasNarrowSynonym "autosomal dominant deafness 20" MONDO:0011480 oboInOwl:hasNarrowSynonym "DFNA20" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011480 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness caused by mutation in ACTG1" MONDO:0011480 oboInOwl:hasNarrowSynonym "ACTG1 autosomal dominant nonsyndromic deafness" +MONDO:0011480 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 20/26" MONDO:0011480 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant type 20" MONDO:0011480 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness type 20" MONDO:0011480 oboInOwl:hasNarrowSynonym "DFNA26" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -82197,6 +82157,7 @@ MONDO:0014738 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 69" MONDO:0014738 oboInOwl:hasNarrowSynonym "DFNA69" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014738 oboInOwl:hasNarrowSynonym "autosomal dominant deafness 69" MONDO:0014738 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness caused by mutation in KITLG" +MONDO:0014738 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 69, unilateral or asymmetric" MONDO:0014738 oboInOwl:hasNarrowSynonym "deafness, congenital, unilateral or asymmetric" MONDO:0014738 oboInOwl:hasNarrowSynonym "DCUA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014738 oboInOwl:hasNarrowSynonym "unilateral or asymmetric congenital deafness" @@ -82211,6 +82172,7 @@ MONDO:0030480 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 119" PO:0009010 oboInOwl:hasNarrowSynonym "pyrene (narrow)" MONDO:0012336 oboInOwl:hasNarrowSynonym "CATCN2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012336 oboInOwl:hasNarrowSynonym "autosomal recessive congenital nuclear cataract 2" +MONDO:0010378 oboInOwl:hasNarrowSynonym "deafness, X-linked 5, X-linked recessive" MONDO:0010378 oboInOwl:hasNarrowSynonym "X-linked hereditary sensory and autonomic neuropathy with deafness" MONDO:0010378 oboInOwl:hasNarrowSynonym "X-linked HSAN with deafness" GO:0045988 oboInOwl:hasNarrowSynonym "inhibition of striated muscle contraction" @@ -82237,8 +82199,8 @@ GO:0000981 oboInOwl:hasNarrowSynonym "RNA polymerase II transcription factor act GO:0000981 oboInOwl:hasNarrowSynonym "metal ion regulated sequence-specific DNA binding RNA polymerase II transcription factor activity" GO:0000981 oboInOwl:hasNarrowSynonym "RNA polymerase II transcription factor activity, zinc ion regulated core promoter proximal region sequence-specific DNA binding" GO:0000981 oboInOwl:hasNarrowSynonym "zinc ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity" -GO:0000981 oboInOwl:hasNarrowSynonym "RNA polymerase II transcription factor activity, copper ion regulated core promoter proximal region sequence-specific binding" GO:0000981 oboInOwl:hasNarrowSynonym "copper ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity" +GO:0000981 oboInOwl:hasNarrowSynonym "RNA polymerase II transcription factor activity, copper ion regulated core promoter proximal region sequence-specific binding" GO:0000981 oboInOwl:hasNarrowSynonym "RNA polymerase II transcription factor activity, metal ion regulated core promoter proximal region sequence-specific binding" GO:0000981 oboInOwl:hasNarrowSynonym "metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity" GO:0000981 oboInOwl:hasNarrowSynonym "transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding" @@ -82279,15 +82241,15 @@ GO:0045989 oboInOwl:hasNarrowSynonym "activation of striated muscle contraction" GO:0045989 oboInOwl:hasNarrowSynonym "stimulation of striated muscle contraction" ENVO:00000131 oboInOwl:hasNarrowSynonym "glacer" MONDO:0003059 oboInOwl:hasNarrowSynonym "malignant neoplasm of the extrahepatic bile duct" +MONDO:0002258 oboInOwl:hasNarrowSynonym "acute sore throat" +MONDO:0002258 oboInOwl:hasNarrowSynonym "acute pharyngitis" +MONDO:0002258 oboInOwl:hasNarrowSynonym "chronic pharyngitis and nasopharyngitis" +MONDO:0002258 oboInOwl:hasNarrowSynonym "persistent sore throat" MONDO:0002258 oboInOwl:hasNarrowSynonym "chronic sore throat" MONDO:0002258 oboInOwl:hasNarrowSynonym "Sore throat - chronic" -MONDO:0002258 oboInOwl:hasNarrowSynonym "chronic pharyngitis" MONDO:0002258 oboInOwl:hasNarrowSynonym "pharyngitis - acute" -MONDO:0002258 oboInOwl:hasNarrowSynonym "acute sore throat" -MONDO:0002258 oboInOwl:hasNarrowSynonym "acute pharyngitis" +MONDO:0002258 oboInOwl:hasNarrowSynonym "chronic pharyngitis" MONDO:0002258 oboInOwl:hasNarrowSynonym "chronic pharyn/nasopharyngitis" -MONDO:0002258 oboInOwl:hasNarrowSynonym "persistent sore throat" -MONDO:0002258 oboInOwl:hasNarrowSynonym "chronic pharyngitis and nasopharyngitis" GO:0032230 oboInOwl:hasNarrowSynonym "stimulation of synaptic transmission, GABAergic" GO:0032230 oboInOwl:hasNarrowSynonym "activation of synaptic transmission, GABAergic" GO:0045653 oboInOwl:hasNarrowSynonym "inhibition of megakaryocyte differentiation" @@ -82414,6 +82376,7 @@ MONDO:0010576 oboInOwl:hasNarrowSynonym "X-linked mixed deafness with perilympha MONDO:0010576 oboInOwl:hasNarrowSynonym "X-linked deafness type 2" MONDO:0010576 oboInOwl:hasNarrowSynonym "Nance deafness" MONDO:0010576 oboInOwl:hasNarrowSynonym "X-linked mixed conductive and neurosensory deafness" +MONDO:0010576 oboInOwl:hasNarrowSynonym "deafness, X-linked 2, X-linked recessive" MONDO:0010576 oboInOwl:hasNarrowSynonym "deafness, X-linked type 2" MONDO:0010576 oboInOwl:hasNarrowSynonym "conductive deafness with stapes fixation" MONDO:0010576 oboInOwl:hasNarrowSynonym "X-linked mixed conductive and sensorineural deafness" @@ -82435,6 +82398,7 @@ MONDO:0011102 oboInOwl:hasNarrowSynonym "autosomal dominant deafness 12" MONDO:0011102 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 8" MONDO:0011102 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 12" MONDO:0011102 oboInOwl:hasNarrowSynonym "DFNA8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011102 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 8/12" MONDO:0011102 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness type 12" MONDO:0011102 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness caused by mutation in TECTA" MONDO:0011102 oboInOwl:hasNarrowSynonym "TECTA autosomal dominant nonsyndromic deafness" @@ -82469,8 +82433,8 @@ MONDO:0010577 oboInOwl:hasNarrowSynonym "deafness, X-linked 2, sensorineural con MONDO:0010577 oboInOwl:hasNarrowSynonym "deafness, X-linked type 1" PATO:0000587 oboInOwl:hasNarrowSynonym "hypoplasia" PATO:0000587 oboInOwl:hasNarrowSynonym "underdeveloped" -GO:1902932 oboInOwl:hasNarrowSynonym "activation of alcohol formation" GO:1902932 oboInOwl:hasNarrowSynonym "activation of alcohol biosynthetic process" +GO:1902932 oboInOwl:hasNarrowSynonym "activation of alcohol formation" GO:1902932 oboInOwl:hasNarrowSynonym "activation of alcohol anabolism" GO:1902932 oboInOwl:hasNarrowSynonym "activation of alcohol synthesis" GO:1902932 oboInOwl:hasNarrowSynonym "activation of alcohol biosynthesis" @@ -82497,6 +82461,7 @@ MONDO:0000193 oboInOwl:hasNarrowSynonym "HSD 11B1 deficiency" MONDO:0011103 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness type 3A" MONDO:0011103 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness caused by mutation in GJB2" MONDO:0011103 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness 3A" +MONDO:0011103 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 3a" MONDO:0011103 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant type 3A" MONDO:0011103 oboInOwl:hasNarrowSynonym "GJB2 autosomal dominant nonsyndromic deafness" MONDO:0011103 oboInOwl:hasNarrowSynonym "neurosensory nonsyndromic dominant deafness 1" @@ -82620,6 +82585,7 @@ GO:0045948 oboInOwl:hasNarrowSynonym "stimulation of translational initiation" GO:0045948 oboInOwl:hasNarrowSynonym "activation of translational initiation" GO:1901863 oboInOwl:hasNarrowSynonym "activation of muscle tissue development" MONDO:0011192 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness type 18A" +MONDO:0011192 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 18a" MONDO:0011192 oboInOwl:hasNarrowSynonym "USH1C autosomal recessive nonsyndromic deafness" MONDO:0011192 oboInOwl:hasNarrowSynonym "DFNB18A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011192 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive type 18A" @@ -82631,21 +82597,22 @@ MONDO:0011192 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafne GO:1904253 oboInOwl:hasNarrowSynonym "activation of bile acid metabolism" GO:1904253 oboInOwl:hasNarrowSynonym "activation of bile acid metabolic process" MONDO:0010484 oboInOwl:hasNarrowSynonym "deafness, X-linked type 6" +MONDO:0010484 oboInOwl:hasNarrowSynonym "deafness, X-linked 6, X-linked recessive" MONDO:0010484 oboInOwl:hasNarrowSynonym "X-linked nonsyndromic deafness caused by mutation in COL4A6" MONDO:0010484 oboInOwl:hasNarrowSynonym "COL4A6 X-linked nonsyndromic deafness" MONDO:0010484 oboInOwl:hasNarrowSynonym "DFNX6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010484 oboInOwl:hasNarrowSynonym "deafness, X-linked 6" MONDO:0005960 oboInOwl:hasNarrowSynonym "silicotuberculosis" -MONDO:0033665 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 78" MONDO:0033665 oboInOwl:hasNarrowSynonym "DFNA78" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0033665 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 78" MONDO:0016255 oboInOwl:hasNarrowSynonym "mixed epithelial and mesenchymal cancer of corpus uteri" GO:0002785 oboInOwl:hasNarrowSynonym "inhibition of antimicrobial peptide production" GO:0005499 oboInOwl:hasNarrowSynonym "ergocalciferol binding" GO:0005499 oboInOwl:hasNarrowSynonym "cholecalciferol binding" GO:0005499 oboInOwl:hasNarrowSynonym "calciferol binding" HP:0002227 oboInOwl:hasNarrowSynonym "Grey eyelashes" http://purl.obolibrary.org/obo/hp.obo#layperson -MONDO:0005093 oboInOwl:hasNarrowSynonym "genodermatosis" MONDO:0005093 oboInOwl:hasNarrowSynonym "dermatosis" +MONDO:0005093 oboInOwl:hasNarrowSynonym "genodermatosis" GO:0034761 oboInOwl:hasNarrowSynonym "stimulation of transmembrane iron ion transport" GO:0034761 oboInOwl:hasNarrowSynonym "activation of transmembrane iron ion transport" GO:1904058 oboInOwl:hasNarrowSynonym "activation of perception of physiological pain" @@ -82663,8 +82630,8 @@ MONDO:0013215 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafne MONDO:0013215 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive type 79" MONDO:0013215 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness 79" MONDO:0013215 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 79" -MONDO:0013215 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 79" MONDO:0013215 oboInOwl:hasNarrowSynonym "TPRN autosomal recessive nonsyndromic deafness" +MONDO:0013215 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 79" MONDO:0013215 oboInOwl:hasNarrowSynonym "DFNB79" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013215 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness type 79" GO:0050819 oboInOwl:hasNarrowSynonym "inhibition of coagulation" @@ -82712,8 +82679,9 @@ MONDO:0009685 oboInOwl:hasNarrowSynonym "Miyoshi muscular dystrophy 1" MONDO:0009685 oboInOwl:hasNarrowSynonym "MMD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005480 oboInOwl:hasNarrowSynonym "contact eczema" MONDO:0011067 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness 12" -MONDO:0011067 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 12" +MONDO:0011067 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 12, modifier of" MONDO:0011067 oboInOwl:hasNarrowSynonym "DFNB12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011067 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 12" MONDO:0011067 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness type 12" MONDO:0011067 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive type 12" MONDO:0011067 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 12" @@ -82886,6 +82854,7 @@ GO:0016101 oboInOwl:hasNarrowSynonym "diterpene metabolism" GO:0016101 oboInOwl:hasNarrowSynonym "diterpene metabolic process" MONDO:0009441 oboInOwl:hasNarrowSynonym "bathing suit ichthyosis" GO:1903507 oboInOwl:hasNarrowSynonym "inhibition of nucleic acid-templated transcription" +MONDO:0014740 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness type 68" MONDO:0014740 oboInOwl:hasNarrowSynonym "HOMER2 autosomal dominant nonsyndromic deafness" MONDO:0014740 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 68" MONDO:0014740 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant type 68" @@ -82893,7 +82862,6 @@ MONDO:0014740 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafnes MONDO:0014740 oboInOwl:hasNarrowSynonym "autosomal dominant deafness 68" MONDO:0014740 oboInOwl:hasNarrowSynonym "DFNA68" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014740 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness caused by mutation in HOMER2" -MONDO:0014740 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness type 68" HP:0000366 oboInOwl:hasNarrowSynonym "Nasal deformity" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0000366 oboInOwl:hasNarrowSynonym "Deformity of the nose" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0000366 oboInOwl:hasNarrowSynonym "Nasal malformation" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -82902,6 +82870,7 @@ MONDO:0001564 oboInOwl:hasNarrowSynonym "simultaneous visual perception without GO:0031646 oboInOwl:hasNarrowSynonym "stimulation of neurological process" GO:0031646 oboInOwl:hasNarrowSynonym "activation of neurological process" MONDO:0010915 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness caused by mutation in MYH14" +MONDO:0010915 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 4a" MONDO:0010915 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 4" MONDO:0010915 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness 4A" MONDO:0010915 oboInOwl:hasNarrowSynonym "DFNA4A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -82915,9 +82884,9 @@ MONDO:0013963 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafne MONDO:0013963 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive type 93" MONDO:0013963 oboInOwl:hasNarrowSynonym "CABP2 autosomal recessive nonsyndromic deafness" MONDO:0013963 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 93" -MONDO:0013963 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 93" MONDO:0013963 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness type 93" MONDO:0013963 oboInOwl:hasNarrowSynonym "DFNB93" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013963 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 93" GO:1904775 oboInOwl:hasNarrowSynonym "up-regulation of coenzyme Q6 biosynthetic process" GO:1904775 oboInOwl:hasNarrowSynonym "upregulation of coenzyme Q9 biosynthetic process" GO:1904775 oboInOwl:hasNarrowSynonym "activation of ubiquinone biosynthesis" @@ -83146,6 +83115,7 @@ MONDO:0000912 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafne MONDO:0000912 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 5" MONDO:0000912 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness type 5" GO:0043170 oboInOwl:hasNarrowSynonym "multicellular organismal macromolecule metabolic process" +MONDO:0010764 oboInOwl:hasNarrowSynonym "deafness, y-linked 1, y-linked" MONDO:0010764 oboInOwl:hasNarrowSynonym "deafness, Y-linked 1" MONDO:0032740 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 100" MONDO:0032740 oboInOwl:hasNarrowSynonym "DFNB100" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -83182,6 +83152,7 @@ GO:0071745 oboInOwl:hasNarrowSynonym "IgA1 antibody" GO:0001809 oboInOwl:hasNarrowSynonym "stimulation of type IV hypersensitivity" GO:0001809 oboInOwl:hasNarrowSynonym "activation of type IV hypersensitivity" GO:0035636 oboInOwl:hasNarrowSynonym "pheromone signaling" +MONDO:0007238 oboInOwl:hasNarrowSynonym "BNAH1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0000070 oboInOwl:hasNarrowSynonym "mitotic sister-chromatid adhesion release" GO:0048812 oboInOwl:hasNarrowSynonym "neurite growth" GO:0048812 oboInOwl:hasNarrowSynonym "neurite formation" @@ -83235,6 +83206,7 @@ GO:0014054 oboInOwl:hasNarrowSynonym "activation of gamma-aminobutyric acid secr GO:0050777 oboInOwl:hasNarrowSynonym "inhibition of immune response" GO:0045913 oboInOwl:hasNarrowSynonym "stimulation of carbohydrate metabolic process" GO:0045913 oboInOwl:hasNarrowSynonym "activation of carbohydrate metabolic process" +MONDO:0044702 oboInOwl:hasNarrowSynonym "deafness, X-linked 7, X-linked recessive" GO:0001217 oboInOwl:hasNarrowSynonym "bacterial-type RNA polymerase transcriptional repressor activity, cadmium ion regulated sequence-specific DNA binding" GO:0001217 oboInOwl:hasNarrowSynonym "bacterial-type DNA binding transcription repressor activity" GO:0001217 oboInOwl:hasNarrowSynonym "cadmium ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription" @@ -83435,6 +83407,7 @@ MONDO:0012170 oboInOwl:hasNarrowSynonym "DFNB36" http://purl.obolibrary.org/obo/ MONDO:0012170 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 36" MONDO:0012170 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness caused by mutation in ESPN" MONDO:0012170 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness type 36" +MONDO:0012170 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 36" MONDO:0012170 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant, without vestibular involvement" MONDO:0012170 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness 36" MONDO:0012170 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 36, with or without vestibular involvement" @@ -83511,9 +83484,9 @@ MONDO:0100446 oboInOwl:hasNarrowSynonym "RMCH1 (formerly)" MONDO:0100446 oboInOwl:hasNarrowSynonym "ACHM1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100446 oboInOwl:hasNarrowSynonym "achromatopsia with myopia" MONDO:0100446 oboInOwl:hasNarrowSynonym "rod monochromatism 1" +MONDO:0100446 oboInOwl:hasNarrowSynonym "rod monochromacy 1, formerly" MONDO:0100446 oboInOwl:hasNarrowSynonym "rod monochromacy 1" MONDO:0100446 oboInOwl:hasNarrowSynonym "ACHM1 (formerly)" -MONDO:0100446 oboInOwl:hasNarrowSynonym "rod monochromacy 1, formerly" MONDO:0100446 oboInOwl:hasNarrowSynonym "Rod monochromatism 1 (formerly)" MONDO:0100446 oboInOwl:hasNarrowSynonym "achromatopsia 3" MONDO:0100446 oboInOwl:hasNarrowSynonym "Rod monochromacy 1 (formerly)" @@ -83790,6 +83763,7 @@ MONDO:0012091 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafne MONDO:0012091 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive type 105" MONDO:0012091 oboInOwl:hasNarrowSynonym "DFNB32" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012091 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness 32" +MONDO:0012091 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 32, with or without immotile sperm" MONDO:0012091 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness type 32" MONDO:0012091 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 32" GO:0031226 oboInOwl:hasNarrowSynonym "intrinsic to plasma membrane" @@ -84005,13 +83979,13 @@ MONDO:0000485 oboInOwl:hasNarrowSynonym "adductor spasmodic dysphonia" MONDO:0000485 oboInOwl:hasNarrowSynonym "abductor spasmodic dysphonia" MONDO:0012988 oboInOwl:hasNarrowSynonym "KAL6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0050995 oboInOwl:hasNarrowSynonym "inhibition of lipid catabolic process" -GO:0001956 oboInOwl:hasNarrowSynonym "activation of neurotransmitter secretion" -GO:0001956 oboInOwl:hasNarrowSynonym "stimulation of neurotransmitter secretion" MONDO:0013250 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness type 85" MONDO:0013250 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness 85" MONDO:0013250 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 85" MONDO:0013250 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 85" MONDO:0013250 oboInOwl:hasNarrowSynonym "DFNB85" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +GO:0001956 oboInOwl:hasNarrowSynonym "activation of neurotransmitter secretion" +GO:0001956 oboInOwl:hasNarrowSynonym "stimulation of neurotransmitter secretion" MONDO:0012355 oboInOwl:hasNarrowSynonym "TRIOBP autosomal recessive nonsyndromic deafness" MONDO:0012355 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP" MONDO:0012355 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 28" @@ -84115,6 +84089,7 @@ GO:1900426 oboInOwl:hasNarrowSynonym "positive regulation of defense response to GO:1900426 oboInOwl:hasNarrowSynonym "activation of resistance response to pathogenic bacteria" GO:1900426 oboInOwl:hasNarrowSynonym "activation of resistance response to pathogenic bacterium" GO:1900426 oboInOwl:hasNarrowSynonym "activation of defense response to bacterium" +MONDO:0027048 oboInOwl:hasNarrowSynonym "deafness, y-linked 2, y-linked" GO:0044441 oboInOwl:hasNarrowSynonym "flagellar part" GO:0044441 oboInOwl:hasNarrowSynonym "flagellum part" GO:0044441 oboInOwl:hasNarrowSynonym "flagellum component" @@ -84225,8 +84200,8 @@ GO:0051460 oboInOwl:hasNarrowSynonym "inhibition of adrenocorticotropin secretio MONDO:0018138 oboInOwl:hasNarrowSynonym "albinism, ocular, with sensorineural deafness" MONDO:0018138 oboInOwl:hasNarrowSynonym "ocular albinism with congenital sensorineural deafness" MONDO:0018138 oboInOwl:hasNarrowSynonym "ocular albinism with sensorineural deafness" -MONDO:0003781 oboInOwl:hasNarrowSynonym "acute bronchitis" MONDO:0003781 oboInOwl:hasNarrowSynonym "chronic bronchitis" +MONDO:0003781 oboInOwl:hasNarrowSynonym "acute bronchitis" GO:0043067 oboInOwl:hasNarrowSynonym "regulation of non-apoptotic programmed cell death" GO:0071305 oboInOwl:hasNarrowSynonym "cellular response to ergocalciferol" GO:0071305 oboInOwl:hasNarrowSynonym "cellular response to cholecalciferol" @@ -84321,7 +84296,6 @@ GO:0005976 oboInOwl:hasNarrowSynonym "glycan metabolic process" GO:0016769 oboInOwl:hasNarrowSynonym "transferase activity, transferring other nitrogenous groups" MONDO:0002467 oboInOwl:hasNarrowSynonym "vestibular disorder" CL:0000362 oboInOwl:hasNarrowSynonym "epithelial cell of skin" -MONDO:0006588 oboInOwl:hasNarrowSynonym "autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type" MONDO:0012420 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness 49" MONDO:0012420 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2" MONDO:0012420 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 49" @@ -84399,8 +84373,8 @@ GO:1904747 oboInOwl:hasNarrowSynonym "positive regulation of activation of apopt GO:1904747 oboInOwl:hasNarrowSynonym "activation of apoptotic programmed cell death involved in development of an anatomical structure" GO:1904747 oboInOwl:hasNarrowSynonym "positive regulation of apoptosis signaling involved in anatomical structure development" GO:1904747 oboInOwl:hasNarrowSynonym "up regulation of type I programmed cell death involved in anatomical structure development" -GO:1904747 oboInOwl:hasNarrowSynonym "positive regulation of apoptosis signaling involved in development of an anatomical structure" GO:1904747 oboInOwl:hasNarrowSynonym "activation of apoptotic program involved in anatomical structure development" +GO:1904747 oboInOwl:hasNarrowSynonym "positive regulation of apoptosis signaling involved in development of an anatomical structure" GO:1904747 oboInOwl:hasNarrowSynonym "activation of type I programmed cell death involved in development of an anatomical structure" GO:1904747 oboInOwl:hasNarrowSynonym "upregulation of type I programmed cell death involved in development of an anatomical structure" GO:1904747 oboInOwl:hasNarrowSynonym "upregulation of apoptosis involved in anatomical structure development" @@ -84453,6 +84427,7 @@ MONDO:0032732 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 113" MONDO:0032732 oboInOwl:hasNarrowSynonym "DFNB113" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009076 oboInOwl:hasNarrowSynonym "deafness nonsyndromic, connexin 26 linked" MONDO:0009076 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive type 1A" +MONDO:0009076 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 1a, autosomal recessive, digenic dominant" MONDO:0009076 oboInOwl:hasNarrowSynonym "deafness, digenic, GJB2/GJB6" MONDO:0009076 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 1A" MONDO:0009076 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 1A" @@ -84601,6 +84576,7 @@ MONDO:0001657 oboInOwl:hasNarrowSynonym "malignant primary brain tumor" MONDO:0001657 oboInOwl:hasNarrowSynonym "adult malignant brain neoplasm" MONDO:0001657 oboInOwl:hasNarrowSynonym "adult brain tumor" MONDO:0001657 oboInOwl:hasNarrowSynonym "malignant tumor of adult brain" +MONDO:0011571 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 39, with dentinogenesis" UBERON:0000092 oboInOwl:hasNarrowSynonym "post-hatching stage" MONDO:0013386 oboInOwl:hasNarrowSynonym "DFNB74" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013386 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness type 74" @@ -84699,6 +84675,7 @@ GO:0016627 oboInOwl:hasNarrowSynonym "oxidoreductase activity, acting on the CH- GO:1903960 oboInOwl:hasNarrowSynonym "inhibition of anion transmembrane transport" MONDO:0007850 oboInOwl:hasNarrowSynonym "keratitis-ichthyosis-deafness syndrome, autosomal dominant" MONDO:0007850 oboInOwl:hasNarrowSynonym "autosomal dominant keratitis-ichthyosis-deafness syndrome" +MONDO:0013823 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 4b" MONDO:0013823 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness 4B" MONDO:0013823 oboInOwl:hasNarrowSynonym "DFNA4B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013823 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness type 4B" @@ -84737,6 +84714,7 @@ MONDO:0013249 oboInOwl:hasNarrowSynonym "DFNB84A" http://purl.obolibrary.org/obo MONDO:0013249 oboInOwl:hasNarrowSynonym "PTPRQ autosomal recessive nonsyndromic deafness" MONDO:0013249 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 84A" MONDO:0013249 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 84A with vestibular dysfunction" +MONDO:0013249 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 84a" MONDO:0013249 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive type 84A" MONDO:0013249 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness 84A" MONDO:0013249 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 84A, with vestibular dysfunction" @@ -84851,8 +84829,10 @@ GO:0046326 oboInOwl:hasNarrowSynonym "stimulation of glucose import" GO:0033673 oboInOwl:hasNarrowSynonym "inhibition of kinase activity" GO:0033673 oboInOwl:hasNarrowSynonym "kinase inhibitor" MONDO:0033198 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness 106" +MONDO:0033198 oboInOwl:hasNarrowSynonym "deafness autosomal recessive 106" MONDO:0033198 oboInOwl:hasNarrowSynonym "DFNB106" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033198 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 106" +MONDO:0013984 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 84b" MONDO:0013984 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness type 84B" MONDO:0013984 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 84B" MONDO:0013984 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness 84B" @@ -84909,6 +84889,7 @@ MONDO:0013985 oboInOwl:hasNarrowSynonym "OTOG autosomal recessive nonsyndromic d MONDO:0013985 oboInOwl:hasNarrowSynonym "DFNB18B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013985 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness 18B" MONDO:0013985 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness type 18B" +MONDO:0013985 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 18b" MONDO:0013985 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive type 18B" MONDO:0013985 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 18B" MONDO:0013985 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness caused by mutation in OTOG" @@ -85142,6 +85123,7 @@ MONDO:0012976 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafnes MONDO:0012976 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 2B" MONDO:0012976 oboInOwl:hasNarrowSynonym "autosomal dominant deafness 2B" MONDO:0012976 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant type 2B" +MONDO:0012976 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 2b" MONDO:0012976 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness caused by mutation in GJB3" MONDO:0012976 oboInOwl:hasNarrowSynonym "DFNA2B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012976 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness 2B" @@ -85189,6 +85171,7 @@ MONDO:0010817 oboInOwl:hasNarrowSynonym "DFNA2A" http://purl.obolibrary.org/obo/ MONDO:0010817 oboInOwl:hasNarrowSynonym "KCNQ4 autosomal dominant nonsyndromic deafness" MONDO:0010817 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness type 2A" MONDO:0010817 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 2A" +MONDO:0010817 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 2a" MONDO:0010817 oboInOwl:hasNarrowSynonym "autosomal dominant deafness 2A" MONDO:0010817 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness 2A" MONDO:0010817 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4" @@ -85267,6 +85250,7 @@ HP:0001276 oboInOwl:hasNarrowSynonym "Spasticity and rigidity of muscles" http:/ MONDO:0012977 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 1B" MONDO:0012977 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 1B" MONDO:0012977 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive type 1B" +MONDO:0012977 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 1b" MONDO:0012977 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness type 1B" MONDO:0012977 oboInOwl:hasNarrowSynonym "GJB6 autosomal recessive nonsyndromic deafness" MONDO:0012977 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness 1B" @@ -85314,6 +85298,7 @@ GO:0002707 oboInOwl:hasNarrowSynonym "inhibition of lymphocyte mediated immunity MONDO:0009997 oboInOwl:hasNarrowSynonym "SC phocomelia syndrome (mild variant of Roberts syndrome)" MONDO:0009997 oboInOwl:hasNarrowSynonym "SC pseudothalidomide syndrome" MONDO:0009997 oboInOwl:hasNarrowSynonym "SC phocomelia" +MONDO:0010962 oboInOwl:hasNarrowSynonym "autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type" GO:0051494 oboInOwl:hasNarrowSynonym "inhibition of cytoskeleton organization" GO:0120031 oboInOwl:hasNarrowSynonym "eupodium" MONDO:0011147 oboInOwl:hasNarrowSynonym "proximal chromosome 18q deletion syndrome" @@ -85405,6 +85390,7 @@ MONDO:0010963 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 38" MONDO:0010963 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness caused by mutation in WFS1" MONDO:0010963 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 14" MONDO:0010963 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness 6" +MONDO:0010963 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 6/14/38" MONDO:0010963 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness type 6" MONDO:0010963 oboInOwl:hasNarrowSynonym "autosomal dominant deafness 6" MONDO:0010963 oboInOwl:hasNarrowSynonym "DFNA6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -85646,11 +85632,11 @@ GO:0070561 oboInOwl:hasNarrowSynonym "calcitriol signaling pathway" GO:1904222 oboInOwl:hasNarrowSynonym "activation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity" GO:1904222 oboInOwl:hasNarrowSynonym "activation of serine C-palmitoyltransferase activity" GO:1904222 oboInOwl:hasNarrowSynonym "activation of 3-oxosphinganine synthetase activity" -MONDO:0011057 oboInOwl:hasNarrowSynonym "cerebrovascular accident" -MONDO:0011057 oboInOwl:hasNarrowSynonym "CVA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011057 oboInOwl:hasNarrowSynonym "CVA (cerebral vascular accident)" -MONDO:0011057 oboInOwl:hasNarrowSynonym "cerebral infarction" MONDO:0011057 oboInOwl:hasNarrowSynonym "stroke" +MONDO:0011057 oboInOwl:hasNarrowSynonym "cerebrovascular accident" +MONDO:0011057 oboInOwl:hasNarrowSynonym "cerebral infarction" +MONDO:0011057 oboInOwl:hasNarrowSynonym "CVA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:1901227 oboInOwl:hasNarrowSynonym "inhibition of transcription from RNA polymerase II promoter involved in dorsal vessel development" GO:1901227 oboInOwl:hasNarrowSynonym "down-regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development" GO:1901227 oboInOwl:hasNarrowSynonym "inhibition of transcription from RNA polymerase II promoter involved in heart development" @@ -85692,7 +85678,6 @@ MONDO:0012375 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafne MONDO:0012375 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness 47" MONDO:0012375 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 47" MONDO:0012375 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 47" -MONDO:0012375 oboInOwl:hasNarrowSynonym "deafness, neurosensory, autosomal recessive 47" MONDO:0012375 oboInOwl:hasNarrowSynonym "DFNB47" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0045823 oboInOwl:hasNarrowSynonym "activation of heart contraction" GO:0045823 oboInOwl:hasNarrowSynonym "stimulation of heart contraction" @@ -85760,8 +85745,8 @@ GO:1903708 oboInOwl:hasNarrowSynonym "activation of blood cell biosynthesis" GO:1903708 oboInOwl:hasNarrowSynonym "activation of haemopoiesis" GO:1903708 oboInOwl:hasNarrowSynonym "activation of hematopoiesis" GO:1903708 oboInOwl:hasNarrowSynonym "activation of hemopoiesis" -MONDO:0011438 oboInOwl:hasNarrowSynonym "acne, adult" ENVO:00000304 oboInOwl:hasNarrowSynonym "shoreface" +MONDO:0011438 oboInOwl:hasNarrowSynonym "acne, adult" GO:0032811 oboInOwl:hasNarrowSynonym "inhibition of epinephrine secretion" GO:0006897 oboInOwl:hasNarrowSynonym "plasma membrane invagination" GO:1905636 oboInOwl:hasNarrowSynonym "activation of RNA polymerase II regulatory region sequence-specific DNA binding" @@ -85938,8 +85923,8 @@ MONDO:0012083 oboInOwl:hasNarrowSynonym "autosomal dominant deafness 28" MONDO:0005738 oboInOwl:hasNarrowSynonym "echinococcosis, unspecified, of liver" MONDO:0005738 oboInOwl:hasNarrowSynonym "echinococcal disease" MONDO:0005738 oboInOwl:hasNarrowSynonym "hydatid disease" -MONDO:0005738 oboInOwl:hasNarrowSynonym "pulmonary echinococcosis" MONDO:0005738 oboInOwl:hasNarrowSynonym "hydatidosis" +MONDO:0005738 oboInOwl:hasNarrowSynonym "pulmonary echinococcosis" MONDO:0005738 oboInOwl:hasNarrowSynonym "hepatic echinococcosis" MONDO:0004979 oboInOwl:hasNarrowSynonym "chronic obstructive asthma with acute exacerbation" MONDO:0004979 oboInOwl:hasNarrowSynonym "exercise-induced asthma" @@ -86136,6 +86121,7 @@ MONDO:0010987 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 10" MONDO:0010987 oboInOwl:hasNarrowSynonym "DFNB8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010987 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 10" MONDO:0010987 oboInOwl:hasNarrowSynonym "NRSD8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010987 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 8/10" MONDO:0010987 oboInOwl:hasNarrowSynonym "autosomal recessive deafness 8" MONDO:0010987 oboInOwl:hasNarrowSynonym "DFNB10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010987 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive type 8" @@ -86153,6 +86139,7 @@ MONDO:0012975 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafnes MONDO:0012975 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness type 3B" MONDO:0012975 oboInOwl:hasNarrowSynonym "autosomal dominant deafness 3B" MONDO:0012975 oboInOwl:hasNarrowSynonym "DFNA3B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012975 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 3b" MONDO:0012975 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant type 3B" GO:0051352 oboInOwl:hasNarrowSynonym "inhibition of ligase activity" MONDO:0001713 oboInOwl:hasNarrowSynonym "rare constitutional aplastic anemia" @@ -86214,13 +86201,13 @@ MONDO:0010589 oboInOwl:hasNarrowSynonym "mental retardation, X-linked, syndromic GO:0051353 oboInOwl:hasNarrowSynonym "stimulation of oxidoreductase activity" GO:0051353 oboInOwl:hasNarrowSynonym "ribonucleotide reductase activating enzyme activity" GO:0051353 oboInOwl:hasNarrowSynonym "activation of oxidoreductase activity" +MONDO:0003620 oboInOwl:hasNarrowSynonym "nerve diseases, peripheral" MONDO:0003620 oboInOwl:hasNarrowSynonym "nerve disease, peripheral" +MONDO:0003620 oboInOwl:hasNarrowSynonym "peripheral nerve disease" MONDO:0003620 oboInOwl:hasNarrowSynonym "peripheral nerve diseases" +MONDO:0003620 oboInOwl:hasNarrowSynonym "peripheral neuropathy" MONDO:0003620 oboInOwl:hasNarrowSynonym "peripheral Neuropathies" MONDO:0003620 oboInOwl:hasNarrowSynonym "neuropathy, peripheral" -MONDO:0003620 oboInOwl:hasNarrowSynonym "nerve diseases, peripheral" -MONDO:0003620 oboInOwl:hasNarrowSynonym "peripheral neuropathy" -MONDO:0003620 oboInOwl:hasNarrowSynonym "peripheral nerve disease" MONDO:0100453 oboInOwl:hasNarrowSynonym "retinal blindness, congenital" MONDO:0100453 oboInOwl:hasNarrowSynonym "retinal cone dystrophy 2" MONDO:0100453 oboInOwl:hasNarrowSynonym "night blindness, congenital stationary, type 1I" @@ -86268,8 +86255,8 @@ MONDO:0100108 oboInOwl:hasNarrowSynonym "autosomal dominant TPM3-related myopath GO:0016651 oboInOwl:hasNarrowSynonym "oxidoreductase activity, acting on NADH or NADPH, other acceptor" GO:0016651 oboInOwl:hasNarrowSynonym "NAD(P)H dehydrogenase" MONDO:0011074 oboInOwl:hasNarrowSynonym "DFNA7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011074 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness 7" MONDO:0011074 oboInOwl:hasNarrowSynonym "autosomal dominant deafness 7" +MONDO:0011074 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness 7" MONDO:0011074 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness type 7" MONDO:0011074 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 7" MONDO:0021129 oboInOwl:hasNarrowSynonym "microphthalmos" @@ -86377,12 +86364,12 @@ GO:1903650 oboInOwl:hasNarrowSynonym "negative regulation of cytoplasmic streami GO:1903650 oboInOwl:hasNarrowSynonym "downregulation of cytoplasmic streaming" GO:1903650 oboInOwl:hasNarrowSynonym "down-regulation of cytoplasmic streaming" GO:0051146 oboInOwl:hasNarrowSynonym "voluntary muscle cell differentiation" -MONDO:0005833 oboInOwl:hasNarrowSynonym "lymphangiopathy" MONDO:0005833 oboInOwl:hasNarrowSynonym "lymphadenopathy" +MONDO:0005833 oboInOwl:hasNarrowSynonym "lymphangiopathy" GO:1903284 oboInOwl:hasNarrowSynonym "activation of GSH peroxidase activity" GO:1903284 oboInOwl:hasNarrowSynonym "positive regulation of non-selenium glutathione peroxidase activity" -GO:1903284 oboInOwl:hasNarrowSynonym "activation of glutathione:hydrogen-peroxide oxidoreductase activity" GO:1903284 oboInOwl:hasNarrowSynonym "activation of non-selenium glutathione peroxidase activity" +GO:1903284 oboInOwl:hasNarrowSynonym "activation of glutathione:hydrogen-peroxide oxidoreductase activity" GO:1903284 oboInOwl:hasNarrowSynonym "upregulation of non-selenium glutathione peroxidase activity" GO:1903284 oboInOwl:hasNarrowSynonym "activation of glutathione peroxidase activity" GO:1903284 oboInOwl:hasNarrowSynonym "up regulation of non-selenium glutathione peroxidase activity" @@ -86455,8 +86442,8 @@ MONDO:0003448 oboInOwl:hasNarrowSynonym "eccrine spiradenoma (morphologic abnorm MONDO:0003448 oboInOwl:hasNarrowSynonym "benign eccrine spiradenoma" MONDO:0011673 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 30" MONDO:0011673 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness 30" -MONDO:0011673 oboInOwl:hasNarrowSynonym "autosomal dominant deafness 30" MONDO:0011673 oboInOwl:hasNarrowSynonym "DFNA30" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011673 oboInOwl:hasNarrowSynonym "autosomal dominant deafness 30" MONDO:0011673 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness type 30" GO:0022890 oboInOwl:hasNarrowSynonym "trivalent inorganic cation transmembrane transporter activity" GO:0022890 oboInOwl:hasNarrowSynonym "monovalent inorganic cation transmembrane transporter activity" @@ -86569,11 +86556,11 @@ MONDO:0014428 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafne MONDO:0014428 oboInOwl:hasNarrowSynonym "autosomal recessive nonsyndromic deafness type 102" MONDO:0014428 oboInOwl:hasNarrowSynonym "deafness, autosomal recessive 102" MONDO:0014428 oboInOwl:hasNarrowSynonym "EPS8 autosomal recessive nonsyndromic deafness" -MONDO:0003767 oboInOwl:hasNarrowSynonym "rheumatic mitral valve changes" -MONDO:0003767 oboInOwl:hasNarrowSynonym "rheumatic mitral valve incompetence" MONDO:0003767 oboInOwl:hasNarrowSynonym "rheumatic disease of mitral valve" -MONDO:0003767 oboInOwl:hasNarrowSynonym "rheumatic mitral valve regurgitation" MONDO:0003767 oboInOwl:hasNarrowSynonym "rheumatic mitral insufficiency" +MONDO:0003767 oboInOwl:hasNarrowSynonym "rheumatic mitral valve regurgitation" +MONDO:0003767 oboInOwl:hasNarrowSynonym "rheumatic mitral valve incompetence" +MONDO:0003767 oboInOwl:hasNarrowSynonym "rheumatic mitral valve changes" MONDO:0011832 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness type 44" MONDO:0011832 oboInOwl:hasNarrowSynonym "autosomal dominant nonsyndromic deafness caused by mutation in CCDC50" MONDO:0011832 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 44" @@ -86633,8 +86620,8 @@ MONDO:0032749 oboInOwl:hasNarrowSynonym "DFNB94" http://purl.obolibrary.org/obo/ GO:1904256 oboInOwl:hasNarrowSynonym "activation of iron channel activity" GO:1904256 oboInOwl:hasNarrowSynonym "activation of iron-specific channel activity" GO:1904256 oboInOwl:hasNarrowSynonym "activation of iron cation channel activity" -MONDO:0033668 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 79" MONDO:0033668 oboInOwl:hasNarrowSynonym "DFNA79" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0033668 oboInOwl:hasNarrowSynonym "deafness, autosomal dominant 79" GO:0043123 oboInOwl:hasNarrowSynonym "stimulation of I-kappaB kinase/NF-kappaB cascade" GO:0045596 oboInOwl:hasNarrowSynonym "inhibition of cell differentiation" GO:0002893 oboInOwl:hasNarrowSynonym "inhibition of type II hypersensitivity" @@ -86769,6 +86756,7 @@ GO:1905788 oboInOwl:hasNarrowSynonym "inhibition of sensory transduction of mech GO:1905788 oboInOwl:hasNarrowSynonym "inhibition of perception of touch, detection of mechanical stimulus" GO:1905788 oboInOwl:hasNarrowSynonym "inhibition of perception of touch, sensory detection of mechanical stimulus" MONDO:0010238 oboInOwl:hasNarrowSynonym "deafness, X-linked type 4" +MONDO:0010238 oboInOwl:hasNarrowSynonym "deafness, X-linked 4, X-linked dominant" MONDO:0010238 oboInOwl:hasNarrowSynonym "deafness, X-linked 4" MONDO:0010238 oboInOwl:hasNarrowSynonym "SMPX X-linked nonsyndromic deafness" MONDO:0010238 oboInOwl:hasNarrowSynonym "X-linked nonsyndromic deafness caused by mutation in SMPX" @@ -87426,6 +87414,7 @@ GO:0038024 oboInOwl:hasBroadSynonym "receptor activity" GO:0038024 oboInOwl:hasBroadSynonym "transport receptor activity" MONDO:0002543 oboInOwl:hasBroadSynonym "oligodendroglioma" MONDO:0002730 oboInOwl:hasBroadSynonym "kidney neoplasm" +MONDO:0001493 oboInOwl:hasBroadSynonym "Cor pulmonale" MONDO:0001589 oboInOwl:hasBroadSynonym "enterocele" GO:0045260 oboInOwl:hasBroadSynonym "hydrogen-translocating F-type ATPase complex" GO:0045260 oboInOwl:hasBroadSynonym "proton-transporting ATP synthase complex" @@ -87479,6 +87468,8 @@ CHR:9606-chrM oboInOwl:hasBroadSynonym "MT" GO:0015986 oboInOwl:hasBroadSynonym "chemiosmosis" MONDO:0003505 oboInOwl:hasBroadSynonym "neoplasm of femur" MONDO:0003505 oboInOwl:hasBroadSynonym "femoral neoplasm" +MONDO:0008791 oboInOwl:hasBroadSynonym "ANPH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008791 oboInOwl:hasBroadSynonym "anencephaly" HP:0001999 oboInOwl:hasBroadSynonym "Malformation of face" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0001999 oboInOwl:hasBroadSynonym "Deformity of face" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0017385 oboInOwl:hasBroadSynonym "MPSI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -88306,6 +88297,7 @@ MONDO:0008017 oboInOwl:hasExactSynonym "HMD" http://purl.obolibrary.org/obo/mond MONDO:0008017 oboInOwl:hasExactSynonym "Urban-Schosser-Spohn syndrome" MONDO:0006705 oboInOwl:hasExactSynonym "Bacteroidaceae caused disease or disorder" MONDO:0006705 oboInOwl:hasExactSynonym "Bacteroidaceae disease or disorder" +MONDO:0010350 oboInOwl:hasExactSynonym "premature ovarian failure 2A, X-linked dominant" MONDO:0010350 oboInOwl:hasExactSynonym "primary ovarian failure caused by mutation in DIAPH2" MONDO:0010350 oboInOwl:hasExactSynonym "premature ovarian failure type 2A" MONDO:0010350 oboInOwl:hasExactSynonym "premature ovarian failure 2A" @@ -88313,6 +88305,7 @@ MONDO:0010350 oboInOwl:hasExactSynonym "DIAPH2 primary ovarian failure" HP:0002149 oboInOwl:hasExactSynonym "High blood uric acid level" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0002149 oboInOwl:hasExactSynonym "Hyperuricaemia" MONDO:0044311 oboInOwl:hasExactSynonym "brachycephaly, trichomegaly, and developmental delay" +MONDO:0013744 oboInOwl:hasExactSynonym "cataract 37, autosomal dominant" MONDO:0013744 oboInOwl:hasExactSynonym "CTRCT37" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013744 oboInOwl:hasExactSynonym "cataract 37" MONDO:0013744 oboInOwl:hasExactSynonym "cataract type 37" @@ -88390,6 +88383,7 @@ MONDO:0013111 oboInOwl:hasExactSynonym "TRMU infantile liver failure" MONDO:0013111 oboInOwl:hasExactSynonym "acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins" MONDO:0013111 oboInOwl:hasExactSynonym "transient infantile liver failure" MONDO:0013111 oboInOwl:hasExactSynonym "LFIT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013111 oboInOwl:hasExactSynonym "liver failure, transient infantile" MONDO:0013111 oboInOwl:hasExactSynonym "liver failure, infantile, transient" MONDO:0013111 oboInOwl:hasExactSynonym "infantile liver failure caused by mutation in TRMU" MONDO:0004934 oboInOwl:hasExactSynonym "inflammation of periosteum" @@ -88478,6 +88472,9 @@ MONDO:0021495 oboInOwl:hasExactSynonym "benign sublingual gland neoplasm" MONDO:0021495 oboInOwl:hasExactSynonym "benign neoplasm of the sublingual gland" MONDO:0021495 oboInOwl:hasExactSynonym "benign tumor of the sublingual gland" MONDO:0021495 oboInOwl:hasExactSynonym "benign sublingual gland tumor" +CHEBI:15036 oboInOwl:hasExactSynonym "retinoate" +CHEBI:15036 oboInOwl:hasExactSynonym "3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoate" +MONDO:0018354 oboInOwl:hasExactSynonym "PWS-like" MONDO:0021148 oboInOwl:hasExactSynonym "female reproductive system neoplasm (disease)" MONDO:0021148 oboInOwl:hasExactSynonym "gynecologic tumor" MONDO:0021148 oboInOwl:hasExactSynonym "female reproductive organ neoplasm (disease)" @@ -88490,9 +88487,6 @@ MONDO:0021148 oboInOwl:hasExactSynonym "neoplasm of the female reproductive syst MONDO:0021148 oboInOwl:hasExactSynonym "neoplasm of female reproductive system" MONDO:0021148 oboInOwl:hasExactSynonym "female reproductive system tumor" MONDO:0021148 oboInOwl:hasExactSynonym "gynecologic neoplasm" -CHEBI:15036 oboInOwl:hasExactSynonym "retinoate" -CHEBI:15036 oboInOwl:hasExactSynonym "3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoate" -MONDO:0018354 oboInOwl:hasExactSynonym "PWS-like" MONDO:0012837 oboInOwl:hasExactSynonym "IBD15" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012837 oboInOwl:hasExactSynonym "inflammatory bowel disease 15" MONDO:0012837 oboInOwl:hasExactSynonym "inflammatory bowel disease type 15" @@ -88506,6 +88500,7 @@ MONDO:0019480 oboInOwl:hasExactSynonym "sarcoma of Langerhans cell" MONDO:0019480 oboInOwl:hasExactSynonym "Langerhans cell sarcoma" MONDO:0032918 oboInOwl:hasExactSynonym "DEE84" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032918 oboInOwl:hasExactSynonym "EIEE84" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032918 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 84" MONDO:0032918 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 84" MONDO:0032918 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84" GO:0005575 oboInOwl:hasExactSynonym "cellular component" @@ -88555,6 +88550,7 @@ MONDO:0010656 oboInOwl:hasExactSynonym "mental retardation, X-linked 1" http://p MONDO:0010656 oboInOwl:hasExactSynonym "MRX1" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010656 oboInOwl:hasExactSynonym "MRX78" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010656 oboInOwl:hasExactSynonym "MRX" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010656 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 1, X-linked dominant" MONDO:0010656 oboInOwl:hasExactSynonym "mental retardation, X-linked type 1" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0004713 oboInOwl:hasExactSynonym "malignant tumour of lower gum" MONDO:0004713 oboInOwl:hasExactSynonym "gingiva of lower jaw cancer" @@ -88570,6 +88566,7 @@ MONDO:0009878 oboInOwl:hasExactSynonym "combined pituitary hormone deficiencies, MONDO:0009878 oboInOwl:hasExactSynonym "pituitary hormone deficiency, combined, type 2" MONDO:0009878 oboInOwl:hasExactSynonym "PROP1 combined pituitary hormone deficiencies, genetic form" MONDO:0015025 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 51" +MONDO:0015025 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 51" MONDO:0015025 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 51; EIEE51" MONDO:0015025 oboInOwl:hasExactSynonym "DEE51" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015025 oboInOwl:hasExactSynonym "MDH2 early infantile epileptic encephalopathy" @@ -88579,6 +88576,7 @@ MONDO:0015025 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantil MONDO:0009080 oboInOwl:hasExactSynonym "split hand-foot malformation 1 with sensorineural hearing loss" MONDO:0009080 oboInOwl:hasExactSynonym "SHFM1D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009080 oboInOwl:hasExactSynonym "congenital deafness with split hands and feet" +MONDO:0009080 oboInOwl:hasExactSynonym "split-hand/foot malformation 1 with sensorineural hearing loss" MONDO:0003195 oboInOwl:hasExactSynonym "peritoneum serous adenocarcinoma" MONDO:0002778 oboInOwl:hasExactSynonym "meningioma of the epidural spinal canal" MONDO:0002778 oboInOwl:hasExactSynonym "meningioma of epidural spinal canal" @@ -88647,15 +88645,16 @@ MONDO:0014192 oboInOwl:hasExactSynonym "ciliary dyskinesia, primary, type 22" MONDO:0013775 oboInOwl:hasExactSynonym "THBD-related bleeding disorder" MONDO:0013775 oboInOwl:hasExactSynonym "THBD-related coagulopathy" MONDO:0013775 oboInOwl:hasExactSynonym "thrombomodulin-related coagulopathy" +MONDO:0013775 oboInOwl:hasExactSynonym "thrombophilia 12 due to thrombomodulin defect" MONDO:0100286 oboInOwl:hasExactSynonym "RSV bronchiolitis" CL:0000055 oboInOwl:hasExactSynonym "blast cell" MONDO:0015329 oboInOwl:hasExactSynonym "malformation syndrome associated with short stature" MONDO:0015329 oboInOwl:hasExactSynonym "congenital malformation syndrome and short stature" MONDO:0015329 oboInOwl:hasExactSynonym "congenital malformation syndrome associated with short stature" +GO:0031335 oboInOwl:hasExactSynonym "regulation of sulfur amino acid metabolism" MONDO:0007340 oboInOwl:hasExactSynonym "cleidocranial dysostosis" MONDO:0007340 oboInOwl:hasExactSynonym "Marie-Sainton disease" MONDO:0007340 oboInOwl:hasExactSynonym "cleidocranial dysplasia" -GO:0031335 oboInOwl:hasExactSynonym "regulation of sulfur amino acid metabolism" PO:0000018 oboInOwl:hasExactSynonym "portion of ovule primordium tissue (exact)" PO:0000018 oboInOwl:hasExactSynonym "胚珠原基(可視的) (Japanese, exact)" PO:0000018 oboInOwl:hasExactSynonym "primordio de óvulo (Spanish, exact)" @@ -88730,11 +88729,13 @@ MONDO:0009728 oboInOwl:hasExactSynonym "familial juvenile nephronophthisis" MONDO:0009728 oboInOwl:hasExactSynonym "nephronophthisis type 1" MONDO:0009728 oboInOwl:hasExactSynonym "NPHP1 nephronophthisis (disease)" MONDO:0009728 oboInOwl:hasExactSynonym "NPHP1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009728 oboInOwl:hasExactSynonym "nephronophthisis 1, juvenile" MONDO:0009728 oboInOwl:hasExactSynonym "juvenile nephronophthisis 1" MONDO:0009728 oboInOwl:hasExactSynonym "NPH1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009728 oboInOwl:hasExactSynonym "juvenile nephronophthisis" MONDO:0009728 oboInOwl:hasExactSynonym "nephronophthisis 1" MONDO:0008641 oboInOwl:hasExactSynonym "retinal vasculopathy and cerebral leukoencephalopathy" +MONDO:0008641 oboInOwl:hasExactSynonym "vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations" MONDO:0008641 oboInOwl:hasExactSynonym "hereditary vascular retinopathy" MONDO:0008641 oboInOwl:hasExactSynonym "RVCL-S" MONDO:0008641 oboInOwl:hasExactSynonym "RVCL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -88756,8 +88757,8 @@ MONDO:0016362 oboInOwl:hasExactSynonym "attenuated FAP" MONDO:0016362 oboInOwl:hasExactSynonym "AFAP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016362 oboInOwl:hasExactSynonym "hereditary flat adenoma syndrome" MONDO:0016362 oboInOwl:hasExactSynonym "attenuated familial adenomatous polyposis" -MONDO:0016362 oboInOwl:hasExactSynonym "AAPC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016362 oboInOwl:hasExactSynonym "attenuated familial polyposis coli" +MONDO:0016362 oboInOwl:hasExactSynonym "AAPC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016362 oboInOwl:hasExactSynonym "HFAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016362 oboInOwl:hasExactSynonym "attenuated adenomatous polyposis coli" MONDO:0030987 oboInOwl:hasExactSynonym "VCTERL syndrome" @@ -88806,6 +88807,7 @@ MONDO:0005631 oboInOwl:hasExactSynonym "Actinomyces infection" MONDO:0005631 oboInOwl:hasExactSynonym "actinomycotic mycetoma of foot" MONDO:0005631 oboInOwl:hasExactSynonym "Madura foot due to Actinomadura" MONDO:0005631 oboInOwl:hasExactSynonym "actinomycotic madura foot" +MONDO:0008026 oboInOwl:hasExactSynonym "spinal muscular atrophy, lower extremity-predominant 1, AD" MONDO:0008026 oboInOwl:hasExactSynonym "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures" MONDO:0008026 oboInOwl:hasExactSynonym "SMALED1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011167 oboInOwl:hasExactSynonym "IDDM6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -88858,10 +88860,11 @@ MONDO:0002652 oboInOwl:hasExactSynonym "anus adenocarcinoma" MONDO:0002652 oboInOwl:hasExactSynonym "adenocarcinoma of the anus" MONDO:0002652 oboInOwl:hasExactSynonym "anal adenocarcinoma" MONDO:0002652 oboInOwl:hasExactSynonym "adenocarcinoma of anus" +MONDO:0011606 oboInOwl:hasExactSynonym "baby rattle pelvis dysplasia" MONDO:0044207 oboInOwl:hasExactSynonym "CEBPE specific granule deficiency" MONDO:0044207 oboInOwl:hasExactSynonym "specific granule deficiency 1" MONDO:0044207 oboInOwl:hasExactSynonym "specific granule deficiency caused by mutation in CEBPE" -MONDO:0011606 oboInOwl:hasExactSynonym "baby rattle pelvis dysplasia" +MONDO:0044207 oboInOwl:hasExactSynonym "specific granule deficiency" MONDO:0013940 oboInOwl:hasExactSynonym "primary ciliary dyskinesia caused by mutation in DNAAF5" MONDO:0013940 oboInOwl:hasExactSynonym "primary ciliary dyskinesia 18 with or without situs inversus" MONDO:0013940 oboInOwl:hasExactSynonym "primary ciliary dyskinesia type 18" @@ -88876,26 +88879,29 @@ MONDO:0021300 oboInOwl:hasExactSynonym "oropharyngeal adenoid cystic carcinoma" MONDO:0021300 oboInOwl:hasExactSynonym "oropharynx adenoid cystic carcinoma" MONDO:0021300 oboInOwl:hasExactSynonym "oropharyngeal throat adenoid cystic cancer" MONDO:0021300 oboInOwl:hasExactSynonym "adenoid cystic carcinoma of the oropharynx" +MONDO:0011596 oboInOwl:hasExactSynonym "dermatitis, atopic, susceptibility to, 2" MONDO:0011596 oboInOwl:hasExactSynonym "dermatitis, Atopic, type 2" MONDO:0011596 oboInOwl:hasExactSynonym "atopic eczema caused by mutation in FLG" MONDO:0011596 oboInOwl:hasExactSynonym "FLG atopic eczema" MONDO:0011596 oboInOwl:hasExactSynonym "ATOD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011596 oboInOwl:hasExactSynonym "atopic dermatitis type 2" MONDO:0060507 oboInOwl:hasExactSynonym "retinal dystrophy with or without macular staphyloma" +MONDO:0060507 oboInOwl:hasExactSynonym "retinal dystrophy with macular staphyloma" HP:0008609 oboInOwl:hasExactSynonym "Morphological abnormality of the middle ear" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0008609 oboInOwl:hasExactSynonym "Middle ear malformation" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0010847 oboInOwl:hasExactSynonym "SCA4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013294 oboInOwl:hasExactSynonym "ATOD8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013294 oboInOwl:hasExactSynonym "atopic dermatitis type 8" -MONDO:0013470 oboInOwl:hasExactSynonym "generalized epilepsy with febrile seizures plus, type 7" -MONDO:0013470 oboInOwl:hasExactSynonym "SCN9A generalized epilepsy with febrile seizures plus" -MONDO:0013470 oboInOwl:hasExactSynonym "generalized epilepsy with febrile seizures plus caused by mutation in SCN9A" +MONDO:0013294 oboInOwl:hasExactSynonym "dermatitis, atopic, susceptibility to, 8" HP:0003473 oboInOwl:hasExactSynonym "Myasthenic weakness" HP:0003473 oboInOwl:hasExactSynonym "Generalised muscle weakness due to defect at the neuromuscular junction" http://purl.obolibrary.org/obo/hp.obo#uk_spelling HP:0003473 oboInOwl:hasExactSynonym "Generalized muscle weakness due to defect at the neuromuscular junction" HP:0003473 oboInOwl:hasExactSynonym "Fatigable weakness of limb muscles" HP:0003473 oboInOwl:hasExactSynonym "Proximal muscle weakness due to defect at the neuromuscular junction" HP:0003473 oboInOwl:hasExactSynonym "Myasthenia" +MONDO:0013470 oboInOwl:hasExactSynonym "generalized epilepsy with febrile seizures plus, type 7" +MONDO:0013470 oboInOwl:hasExactSynonym "SCN9A generalized epilepsy with febrile seizures plus" +MONDO:0013470 oboInOwl:hasExactSynonym "generalized epilepsy with febrile seizures plus caused by mutation in SCN9A" MONDO:0100112 oboInOwl:hasExactSynonym "acyl-CoA binding domain containing protein 5 deficiency" MONDO:0100112 oboInOwl:hasExactSynonym "ACBD5 deficiency" MONDO:0041095 oboInOwl:hasExactSynonym "malignant otitis externa caused by Pseudomonas aeruginosa" @@ -88932,6 +88938,7 @@ MONDO:0009176 oboInOwl:hasExactSynonym "epidermodysplasia verruciformis" MONDO:0014357 oboInOwl:hasExactSynonym "autosomal dominant mental retardation 24" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014357 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant 24" MONDO:0014357 oboInOwl:hasExactSynonym "autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1" +MONDO:0014357 oboInOwl:hasExactSynonym "Vulto-van Silfout-de Vries syndrome" MONDO:0014357 oboInOwl:hasExactSynonym "MRD24" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014357 oboInOwl:hasExactSynonym "DEAF1 autosomal dominant non-syndromic intellectual disability" MONDO:0014357 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant type 24" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -88958,7 +88965,6 @@ MONDO:0007249 oboInOwl:hasExactSynonym "camptobrachydactyly" MONDO:0016655 oboInOwl:hasExactSynonym "Del(6)(p22)" MONDO:0016655 oboInOwl:hasExactSynonym "monosomy 6p22" MONDO:0011427 oboInOwl:hasExactSynonym "Ascaris lumbricoides infection, susceptibility to" -ECTO:9000019 oboInOwl:hasExactSynonym "exposure to acetic acid" GO:1905332 oboInOwl:hasExactSynonym "upregulation of epithelium morphogenesis" GO:1905332 oboInOwl:hasExactSynonym "up regulation of epithelium morphogenesis" GO:1905332 oboInOwl:hasExactSynonym "up regulation of morphogenesis of an epithelium" @@ -88966,6 +88972,7 @@ GO:1905332 oboInOwl:hasExactSynonym "upregulation of morphogenesis of an epithel GO:1905332 oboInOwl:hasExactSynonym "positive regulation of epithelium morphogenesis" GO:1905332 oboInOwl:hasExactSynonym "up-regulation of morphogenesis of an epithelium" GO:1905332 oboInOwl:hasExactSynonym "up-regulation of epithelium morphogenesis" +ECTO:9000019 oboInOwl:hasExactSynonym "exposure to acetic acid" MONDO:0006034 oboInOwl:hasExactSynonym "gastric (stomach) adenosquamous cancer" MONDO:0006034 oboInOwl:hasExactSynonym "stomach adenosquamous carcinoma" MONDO:0006034 oboInOwl:hasExactSynonym "gastric adenosquamous carcinoma" @@ -89018,6 +89025,7 @@ MONDO:0010320 oboInOwl:hasExactSynonym "retinitis pigmentosa 23" MONDO:0010320 oboInOwl:hasExactSynonym "retinitis pigmentosa type 23" MONDO:0010320 oboInOwl:hasExactSynonym "RP23" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010320 oboInOwl:hasExactSynonym "OFD1 retinitis pigmentosa" +MONDO:0010320 oboInOwl:hasExactSynonym "retinitis pigmentosa 23, X-linked recessive" MONDO:0002513 oboInOwl:hasExactSynonym "benign kidney neoplasm" MONDO:0002513 oboInOwl:hasExactSynonym "renal and ureteral tumor" MONDO:0002513 oboInOwl:hasExactSynonym "benign tumor of the kidney" @@ -89044,10 +89052,12 @@ GO:0046137 oboInOwl:hasExactSynonym "downregulation of vitamin metabolic process GO:0046137 oboInOwl:hasExactSynonym "negative regulation of vitamin metabolism" MONDO:0008854 oboInOwl:hasExactSynonym "Bardet-Biedl syndrome type 1" MONDO:0008854 oboInOwl:hasExactSynonym "Bardet-Biedl syndrome 1" +MONDO:0008854 oboInOwl:hasExactSynonym "Bardet-Biedl syndrome 1, modifier of" MONDO:0008854 oboInOwl:hasExactSynonym "BBS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013073 oboInOwl:hasExactSynonym "palmoplantar keratoderma, nonepidermolytic, focal type 1" MONDO:0013073 oboInOwl:hasExactSynonym "nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16" MONDO:0013073 oboInOwl:hasExactSynonym "KRT16 nonepidermolytic palmoplantar keratoderma" +MONDO:0013073 oboInOwl:hasExactSynonym "palmoplantar keratoderma, nonepidermolytic, focal" MONDO:0013073 oboInOwl:hasExactSynonym "palmoplantar keratoderma, nonepidermolytic, focal 1" GO:1900404 oboInOwl:hasExactSynonym "up-regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter" GO:1900404 oboInOwl:hasExactSynonym "upregulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter" @@ -89056,6 +89066,7 @@ MONDO:0020064 oboInOwl:hasExactSynonym "absent pulmonary valve syndrome" MONDO:0020064 oboInOwl:hasExactSynonym "congenital absence of the pulmonary valve" MONDO:0020064 oboInOwl:hasExactSynonym "PVA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032598 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 68" +MONDO:0032598 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 68" MONDO:0032598 oboInOwl:hasExactSynonym "EIEE68" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032598 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68" MONDO:0032598 oboInOwl:hasExactSynonym "DEE68" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -89110,6 +89121,7 @@ MONDO:0010490 oboInOwl:hasExactSynonym "carbohydrate deficient glycoprotein synd MONDO:0010490 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type 1y" MONDO:0010490 oboInOwl:hasExactSynonym "CDG syndrome type Iy" MONDO:0010490 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type Iy" +MONDO:0010490 oboInOwl:hasExactSynonym "congenital disorder of glycosylation, type Iy, X-linked recessive" MONDO:0010490 oboInOwl:hasExactSynonym "CDG1Y" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010490 oboInOwl:hasExactSynonym "CDG-Iy" CL:0009039 oboInOwl:hasExactSynonym "goblet cell of colon" @@ -89163,6 +89175,7 @@ GO:0051703 oboInOwl:hasExactSynonym "intraspecies interaction with other organis GO:0051703 oboInOwl:hasExactSynonym "intraspecies interaction between organisms" MONDO:0000569 oboInOwl:hasExactSynonym "endocrine system hypersensitivity reaction type II disease" MONDO:0000569 oboInOwl:hasExactSynonym "endocrine system autoimmune disease" +MONDO:0020754 oboInOwl:hasExactSynonym "visceral myopathy 1" MONDO:0020754 oboInOwl:hasExactSynonym "visceral myopathy" MONDO:0016167 oboInOwl:hasExactSynonym "visual pathway glioma" MONDO:0016167 oboInOwl:hasExactSynonym "glioma of the visual pathway" @@ -89172,6 +89185,7 @@ MONDO:0016167 oboInOwl:hasExactSynonym "glioma of visual pathway" MONDO:0016167 oboInOwl:hasExactSynonym "optic tract glioma" MONDO:0016167 oboInOwl:hasExactSynonym "optic pathway glioma" CHEBI:25806 oboInOwl:hasExactSynonym "oxygen molecular entity" +MONDO:0012751 oboInOwl:hasExactSynonym "aneurysm, familial abdominal 3" MONDO:0012751 oboInOwl:hasExactSynonym "aortic aneurysm, familial abdominal, 3" MONDO:0012751 oboInOwl:hasExactSynonym "AAA3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000979 oboInOwl:hasExactSynonym "pinta" @@ -89187,7 +89201,6 @@ MONDO:0013472 oboInOwl:hasExactSynonym "alpha-B crystalin-related fatal infantil MONDO:0013472 oboInOwl:hasExactSynonym "fatal infantile hypertonic myofibrillar myopathy" MONDO:0017406 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome" CL:0002000 oboInOwl:hasExactSynonym "c- Kit-positive erythroid progenitor cell" -MONDO:0013680 oboInOwl:hasExactSynonym "cognitive impairment with or without cerebellar ataxia" MONDO:0012122 oboInOwl:hasExactSynonym "MYMY3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CL:0000979 oboInOwl:hasExactSynonym "memory IgG B cell" CL:0000979 oboInOwl:hasExactSynonym "IgG memory B-lymphocyte" @@ -89196,6 +89209,7 @@ CL:0000979 oboInOwl:hasExactSynonym "memory IgG B-lymphocyte" CL:0000979 oboInOwl:hasExactSynonym "IgG memory B-cell" CL:0000979 oboInOwl:hasExactSynonym "memory IgG B lymphocyte" CL:0000979 oboInOwl:hasExactSynonym "memory IgG B-cell" +MONDO:0013680 oboInOwl:hasExactSynonym "cognitive impairment with or without cerebellar ataxia" MONDO:0008018 oboInOwl:hasExactSynonym "multiple keratoacanthoma, Muir-Torre type" MONDO:0008018 oboInOwl:hasExactSynonym "Muir-Torre syndrome" MONDO:0006706 oboInOwl:hasExactSynonym "Bifidobacteriales caused disease or disorder" @@ -89243,13 +89257,14 @@ GO:0002884 oboInOwl:hasExactSynonym "down-regulation of hypersensitivity" NCBITaxon:216285 oboInOwl:hasExactSynonym "Trochoidea" http://purl.obolibrary.org/obo/ncbitaxon#scientific_name MONDO:0012343 oboInOwl:hasExactSynonym "AAA2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012343 oboInOwl:hasExactSynonym "aortic aneurysm, familial abdominal, 2" +MONDO:0012343 oboInOwl:hasExactSynonym "aortic aneurysm, familial abdominal 2" MONDO:0015507 oboInOwl:hasExactSynonym "rare genetic liver disease" UBERON:0001988 oboInOwl:hasExactSynonym "portion of feces" UBERON:0001988 oboInOwl:hasExactSynonym "faeces" UBERON:0001988 oboInOwl:hasExactSynonym "stool" UBERON:0001988 oboInOwl:hasExactSynonym "porción de mierda@en" -UBERON:0001988 oboInOwl:hasExactSynonym "portion of fecal material" UBERON:0001988 oboInOwl:hasExactSynonym "fecal material" +UBERON:0001988 oboInOwl:hasExactSynonym "portion of fecal material" UBERON:0001988 oboInOwl:hasExactSynonym "fecal matter" UBERON:0001988 oboInOwl:hasExactSynonym "portion of fecal matter" UBERON:0001988 oboInOwl:hasExactSynonym "portionem cacas" @@ -89270,6 +89285,7 @@ PO:0025029 oboInOwl:hasExactSynonym "caullome (exact)" PO:0025029 oboInOwl:hasExactSynonym "シュート軸 (Japanese, exact)" MONDO:0010351 oboInOwl:hasExactSynonym "FA2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010351 oboInOwl:hasExactSynonym "Fanconi Anemia, complementation group type B" +MONDO:0010351 oboInOwl:hasExactSynonym "Fanconi anemia, complementation group B, X-linked recessive" MONDO:0010351 oboInOwl:hasExactSynonym "FACB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010351 oboInOwl:hasExactSynonym "FANCB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010351 oboInOwl:hasExactSynonym "Fanconi anemia complementation group type B" @@ -89281,6 +89297,7 @@ MONDO:0013745 oboInOwl:hasExactSynonym "TMEM237 Joubert syndrome" MONDO:0013745 oboInOwl:hasExactSynonym "Joubert syndrome type 14" MONDO:0013745 oboInOwl:hasExactSynonym "JBTS14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013745 oboInOwl:hasExactSynonym "Joubert syndrome 14" +MONDO:0012530 oboInOwl:hasExactSynonym "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal" MONDO:0012530 oboInOwl:hasExactSynonym "palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome" MONDO:0024478 oboInOwl:hasExactSynonym "mesenchymal hamartoma" GO:0030261 oboInOwl:hasExactSynonym "nuclear chromosome condensation" @@ -89290,6 +89307,7 @@ MONDO:0008225 oboInOwl:hasExactSynonym "NormoKPP" MONDO:0008225 oboInOwl:hasExactSynonym "normokalemic periodic paralysis" MONDO:0009436 oboInOwl:hasExactSynonym "hypothalamic hamartomas" MONDO:0009436 oboInOwl:hasExactSynonym "congenital hypothalamic hamartoma syndrome" +MONDO:0009436 oboInOwl:hasExactSynonym "Pallister-Hall-like syndrome" MONDO:0009436 oboInOwl:hasExactSynonym "hamartoma of hypothalamus" MONDO:0009436 oboInOwl:hasExactSynonym "hypothalamic hamartoma" MONDO:0013099 oboInOwl:hasExactSynonym "familial congenital hypopituitarism" @@ -89297,6 +89315,7 @@ MONDO:0013099 oboInOwl:hasExactSynonym "pituitary hormone deficiency, combined" MONDO:0013099 oboInOwl:hasExactSynonym "genetic hypopituitarism" MONDO:0013099 oboInOwl:hasExactSynonym "multiple pituitary hormone deficiencies, genetic forms" MONDO:0020756 oboInOwl:hasExactSynonym "FHM1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020756 oboInOwl:hasExactSynonym "migraine, familial hemiplegic, 1, with progressive cerebellar ataxia" MONDO:0020756 oboInOwl:hasExactSynonym "familial hemiplegic migraine type 1" MONDO:0020756 oboInOwl:hasExactSynonym "migraine, sporadic hemiplegic" MONDO:0020756 oboInOwl:hasExactSynonym "migraine, familial hemiplegic, type 1" @@ -89304,11 +89323,12 @@ MONDO:0020756 oboInOwl:hasExactSynonym "hemiplegic migraine, familial type 1" MONDO:0020756 oboInOwl:hasExactSynonym "migraine, familial hemiplegic, 1" MONDO:0020756 oboInOwl:hasExactSynonym "migraine, familial hemiplegic 1, with progressive cerebellar ataxia" MONDO:0020756 oboInOwl:hasExactSynonym "MHP1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010572 oboInOwl:hasExactSynonym "X-linked cutis laxa" -MONDO:0010572 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome type 9" MONDO:0010572 oboInOwl:hasExactSynonym "occipital horn syndrome" -MONDO:0010572 oboInOwl:hasExactSynonym "EDS IX" MONDO:0010572 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome type IX" +MONDO:0010572 oboInOwl:hasExactSynonym "occipital horn syndrome, X-linked recessive" +MONDO:0010572 oboInOwl:hasExactSynonym "EDS IX" +MONDO:0010572 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome type 9" +MONDO:0010572 oboInOwl:hasExactSynonym "X-linked cutis laxa" GO:0071827 oboInOwl:hasExactSynonym "plasma lipoprotein particle organisation" MONDO:0002046 oboInOwl:hasExactSynonym "alcohol abuse" MONDO:0002046 oboInOwl:hasExactSynonym "ethanol abuse" @@ -89334,6 +89354,9 @@ MONDO:0006980 oboInOwl:hasExactSynonym "struma ovarii (morphologic abnormality)" MONDO:0006980 oboInOwl:hasExactSynonym "struma ovarii NOS (morphologic abnormality)" MONDO:0007622 oboInOwl:hasExactSynonym "flood factor deficiency" MONDO:0011974 oboInOwl:hasExactSynonym "RP7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011974 oboInOwl:hasExactSynonym "retinitis pigmentosa 7, digenic form, autosomal recessive, autosomal dominant, digenic dominant" +MONDO:0011974 oboInOwl:hasExactSynonym "leber congenital amaurosis 18, autosomal recessive, autosomal dominant, digenic dominant" +MONDO:0011974 oboInOwl:hasExactSynonym "retinitis pigmentosa 7 and digenic form, autosomal recessive, autosomal dominant, digenic dominant" MONDO:0011974 oboInOwl:hasExactSynonym "retinitis pigmentosa 7" MONDO:0011974 oboInOwl:hasExactSynonym "retinitis pigmentosa type 7" HP:0002883 oboInOwl:hasExactSynonym "Rapid breathing" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -89393,6 +89416,7 @@ MONDO:0014735 oboInOwl:hasExactSynonym "CMT2Y" http://purl.obolibrary.org/obo/mo MONDO:0014735 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2 caused by mutation in VCP" MONDO:0014735 oboInOwl:hasExactSynonym "autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation" MONDO:0014735 oboInOwl:hasExactSynonym "VCP Charcot-Marie-Tooth disease type 2" +MONDO:0014735 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 2Y" MONDO:0014735 oboInOwl:hasExactSynonym "autosomal dominant axonal Charcot-Marie-Tooth type 2Y" MONDO:0014735 oboInOwl:hasExactSynonym "CMT2 due to VCP mutation" CHEBI:35693 oboInOwl:hasExactSynonym "dicarboxylic acid anion" @@ -89423,8 +89447,9 @@ MONDO:0009215 oboInOwl:hasExactSynonym "Fanconi anemia complementation group A" MONDO:0009215 oboInOwl:hasExactSynonym "FANCA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009215 oboInOwl:hasExactSynonym "Fanconi anemia caused by mutation in FANCA" MONDO:0009215 oboInOwl:hasExactSynonym "Fanconi anemia complementation group type A" -MONDO:0011566 oboInOwl:hasExactSynonym "abdominal obesity-metabolic syndrome quantitative trait locus type 2" +MONDO:0011566 oboInOwl:hasExactSynonym "Abdominal obesity-metabolic syndrome" MONDO:0011566 oboInOwl:hasExactSynonym "abdominal obesity-metabolic syndrome quantitative trait locus 2" +MONDO:0011566 oboInOwl:hasExactSynonym "abdominal obesity-metabolic syndrome quantitative trait locus type 2" HP:0003272 oboInOwl:hasExactSynonym "Abnormality of the hip bone" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0003272 oboInOwl:hasExactSynonym "Abnormality of the hips" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0033280 oboInOwl:hasExactSynonym "nephrotic syndrome, type 16" @@ -89432,12 +89457,12 @@ MONDO:0033280 oboInOwl:hasExactSynonym "nephrotic syndrome 16" MONDO:0008477 oboInOwl:hasExactSynonym "spondylometaphyseal dysplasia, Kozlowski type" MONDO:0004937 oboInOwl:hasExactSynonym "hypervitaminosis type D" MONDO:0009551 oboInOwl:hasExactSynonym "magnesium, elevated red cell" +OBA:VT0010454 oboInOwl:hasExactSynonym "multicellular organism quality" MONDO:0018542 oboInOwl:hasExactSynonym "neutropenia, severe congenital" MONDO:0018542 oboInOwl:hasExactSynonym "SCN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014106 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism caused by mutation in FGF17" MONDO:0014106 oboInOwl:hasExactSynonym "FGF17 hypogonadotropic hypogonadism" MONDO:0014106 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 20 with or without anosmia" -OBA:VT0010454 oboInOwl:hasExactSynonym "multicellular organism quality" MONDO:0002451 oboInOwl:hasExactSynonym "benign phyllodes tumor of the prostate" MONDO:0002451 oboInOwl:hasExactSynonym "benign phyllodes neoplasm of the prostate" MONDO:0002451 oboInOwl:hasExactSynonym "benign phyllodes neoplasm of prostate" @@ -89482,7 +89507,9 @@ GO:1901533 oboInOwl:hasExactSynonym "inhibition of haematopoietic progenitor cel GO:1901533 oboInOwl:hasExactSynonym "negative regulation of haematopoietic progenitor cell differentiation" MONDO:0016584 oboInOwl:hasExactSynonym "MAD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016584 oboInOwl:hasExactSynonym "mandibuloacral dysplasia with lipodystrophy" +MONDO:0012148 oboInOwl:hasExactSynonym "codeine sensitivity" MONDO:0012148 oboInOwl:hasExactSynonym "drug metabolism, poor, CYP2D6-related" +MONDO:0012148 oboInOwl:hasExactSynonym "debrisoquine sensitivity" MONDO:0006572 oboInOwl:hasExactSynonym "lichen ruber planus" MONDO:0006572 oboInOwl:hasExactSynonym "lichen, ruber planus" MONDO:0019960 oboInOwl:hasExactSynonym "pancreatic cholera" @@ -89522,6 +89549,7 @@ GO:0046504 oboInOwl:hasExactSynonym "glycerol ether formation" GO:0046504 oboInOwl:hasExactSynonym "glycerol ether biosynthesis" MONDO:0011802 oboInOwl:hasExactSynonym "hypercalciuria, absorptive, 1" MONDO:0011802 oboInOwl:hasExactSynonym "hypercalciuria, absorptive, type 1" +MONDO:0011802 oboInOwl:hasExactSynonym "hypercalciuria, absorptive" MONDO:0017962 oboInOwl:hasExactSynonym "46,XX DSD induced by fetoplacental androgens excess" MONDO:0009926 oboInOwl:hasExactSynonym "Escobar variant multiple pterygium syndrome" MONDO:0009926 oboInOwl:hasExactSynonym "autosomal recessive multiple pterygium syndrome" @@ -89538,6 +89566,7 @@ MONDO:0013589 oboInOwl:hasExactSynonym "MYO1E focal segmental glomerulosclerosis MONDO:0013589 oboInOwl:hasExactSynonym "focal segmental glomerulosclerosis caused by mutation in MYO1E" MONDO:0013589 oboInOwl:hasExactSynonym "FSGS6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012335 oboInOwl:hasExactSynonym "POMC deficiency" +MONDO:0012335 oboInOwl:hasExactSynonym "obesity, adrenal insufficiency, and red hair due to POMC deficiency" GO:1905294 oboInOwl:hasExactSynonym "up-regulation of neural crest cell differentiation" GO:1905294 oboInOwl:hasExactSynonym "up regulation of neural crest cell differentiation" GO:1905294 oboInOwl:hasExactSynonym "upregulation of neural crest cell differentiation" @@ -89603,6 +89632,7 @@ MONDO:0018145 oboInOwl:hasExactSynonym "congenital retinal arteriovenous anastom MONDO:0018145 oboInOwl:hasExactSynonym "congenital arteriovenous anastomoses of the retina" MONDO:0018145 oboInOwl:hasExactSynonym "congenital arteriovenous communication of the retina" MONDO:0010659 oboInOwl:hasExactSynonym "intellectual disability associated with fragile site FRAXE" +MONDO:0010659 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 109, X-linked recessive" MONDO:0010659 oboInOwl:hasExactSynonym "FRAXE intellectual disability" CL:0000138 oboInOwl:hasExactSynonym "cartilage cell" MONDO:0016833 oboInOwl:hasExactSynonym "Del(14)(q12)" @@ -89665,6 +89695,7 @@ MONDO:0003057 oboInOwl:hasExactSynonym "childhood meningioma (disease)" MONDO:0003057 oboInOwl:hasExactSynonym "childhood meningioma" MONDO:0003057 oboInOwl:hasExactSynonym "pediatric meningioma (disease)" MONDO:0003057 oboInOwl:hasExactSynonym "pediatric meningioma" +MONDO:0007562 oboInOwl:hasExactSynonym "epiphyseal dysplasia, multiple, with myopia and deafness" MONDO:0007562 oboInOwl:hasExactSynonym "multiple epiphyseal dysplasia-myopia-deafness syndrome" MONDO:0002944 oboInOwl:hasExactSynonym "carcinoma of external Ear" MONDO:0002944 oboInOwl:hasExactSynonym "carcinoma of the external Ear" @@ -89695,8 +89726,8 @@ MONDO:0005109 oboInOwl:hasExactSynonym "Human immunodeficiency virus caused dise MONDO:0005109 oboInOwl:hasExactSynonym "Human immunodeficiency virus disease or disorder" MONDO:0005109 oboInOwl:hasExactSynonym "Human immunodeficiency virus infectious disease" MONDO:0008642 oboInOwl:hasExactSynonym "VACTERL association" -MONDO:0008642 oboInOwl:hasExactSynonym "VATER association" MONDO:0008642 oboInOwl:hasExactSynonym "vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome" +MONDO:0008642 oboInOwl:hasExactSynonym "VATER association" MONDO:0004393 oboInOwl:hasExactSynonym "mixed astrocytoma-ependymoma" MONDO:0009879 oboInOwl:hasExactSynonym "Kowarski syndrome" MONDO:0000986 oboInOwl:hasExactSynonym "inflammation of pleura" @@ -89714,8 +89745,11 @@ MONDO:0009059 oboInOwl:hasExactSynonym "cysteine Peptiduria" MONDO:0030988 oboInOwl:hasExactSynonym "DEFDA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012408 oboInOwl:hasExactSynonym "VSX2 microphthalmia, isolated, with coloboma" MONDO:0012408 oboInOwl:hasExactSynonym "microphthalmia, isolated, with coloboma 3" +MONDO:0012408 oboInOwl:hasExactSynonym "microphthalmia with coloboma 3" MONDO:0012408 oboInOwl:hasExactSynonym "microphthalmia, isolated, with coloboma caused by mutation in VSX2" MONDO:0012408 oboInOwl:hasExactSynonym "microphthalmia, isolated, with coloboma type 3" +MONDO:0054665 oboInOwl:hasExactSynonym "pituitary adenoma 3, multiple types" +MONDO:0054665 oboInOwl:hasExactSynonym "pituitary adenoma 3, multiple types, somatic" MONDO:0010156 oboInOwl:hasExactSynonym "autosomal recessive spastic paraplegia type 20" MONDO:0010156 oboInOwl:hasExactSynonym "autosomal recessive spastic paraplegia 20" MONDO:0010156 oboInOwl:hasExactSynonym "childhood-onset spastic paraparesis-distal muscle wasting syndrome" @@ -89726,7 +89760,6 @@ MONDO:0010156 oboInOwl:hasExactSynonym "hereditary spastic paraplegia 20" MONDO:0010156 oboInOwl:hasExactSynonym "spastic paraplegia type 20" MONDO:0010156 oboInOwl:hasExactSynonym "autosomal recessive spastic paraplegia Troyer type" MONDO:0010156 oboInOwl:hasExactSynonym "spastic paraplegia 20 (Troyer syndrome)" -MONDO:0054665 oboInOwl:hasExactSynonym "pituitary adenoma 3, multiple types" CHEBI:15705 oboInOwl:hasExactSynonym "L-alpha-amino acids" CHEBI:15705 oboInOwl:hasExactSynonym "L-alpha-amino acid" MONDO:0011239 oboInOwl:hasExactSynonym "MACOM syndrome" @@ -89759,13 +89792,17 @@ MONDO:0017823 oboInOwl:hasExactSynonym "Somatolactotropinoma" MONDO:0017823 oboInOwl:hasExactSynonym "GH and PRL cosecreting pituitary adenoma" MONDO:0017823 oboInOwl:hasExactSynonym "Growth hormone and prolactin cosecreting pituitary adenoma" MONDO:0017823 oboInOwl:hasExactSynonym "Somatoprolactinoma" +MONDO:0011597 oboInOwl:hasExactSynonym "dermatitis, atopic, susceptibility to, 3" MONDO:0011597 oboInOwl:hasExactSynonym "atopic dermatitis type 3" MONDO:0011597 oboInOwl:hasExactSynonym "ATOD3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011597 oboInOwl:hasExactSynonym "atopic dermatitis with asthma" +MONDO:0011426 oboInOwl:hasExactSynonym "cerebellar ataxia" MONDO:0011426 oboInOwl:hasExactSynonym "aceruloplasminemia" MONDO:0011426 oboInOwl:hasExactSynonym "hereditary ceruloplasmin deficiency" +MONDO:0011426 oboInOwl:hasExactSynonym "hypoceruloplasminemia, hereditary" MONDO:0012500 oboInOwl:hasExactSynonym "TREX1 chilblain lupus" MONDO:0012500 oboInOwl:hasExactSynonym "chilblain lupus type 1" +MONDO:0012500 oboInOwl:hasExactSynonym "chilblain lupus" MONDO:0012500 oboInOwl:hasExactSynonym "chilblain lupus caused by mutation in TREX1" MONDO:0012500 oboInOwl:hasExactSynonym "chilblain lupus 1" MONDO:0007811 oboInOwl:hasExactSynonym "Sidransky-Feinstein-Goodman syndrome" @@ -89773,11 +89810,11 @@ MONDO:0017095 oboInOwl:hasExactSynonym "FCD type I" HP:0003474 oboInOwl:hasExactSynonym "Sensory impairment" MONDO:0004873 oboInOwl:hasExactSynonym "internal hemorrhoid" MONDO:0012999 oboInOwl:hasExactSynonym "cerebral creatine deficiency syndrome type 2" -MONDO:0012999 oboInOwl:hasExactSynonym "guanidinoacetate N-methyltransferase activity disease" MONDO:0012999 oboInOwl:hasExactSynonym "cerebral creatine deficiency syndrome 2" MONDO:0012999 oboInOwl:hasExactSynonym "disorder of guanidinoacetate N-methyltransferase activity" MONDO:0012999 oboInOwl:hasExactSynonym "GAMT deficiency" MONDO:0012999 oboInOwl:hasExactSynonym "guanidinoacetate methyltransferase deficiency" +MONDO:0012999 oboInOwl:hasExactSynonym "guanidinoacetate N-methyltransferase activity disease" MONDO:0002653 oboInOwl:hasExactSynonym "Paget disease of the penis" MONDO:0002653 oboInOwl:hasExactSynonym "penis mammary Paget's disease" MONDO:0002653 oboInOwl:hasExactSynonym "penile adenocarcinoma" @@ -89797,13 +89834,13 @@ MONDO:0004779 oboInOwl:hasExactSynonym "epididymitis" MONDO:0004779 oboInOwl:hasExactSynonym "epididymitis (disease)" MONDO:0004779 oboInOwl:hasExactSynonym "epididymal" MONDO:0021945 oboInOwl:hasExactSynonym "hearing disorder" -MONDO:0007341 oboInOwl:hasExactSynonym "cleidorhizomelic syndrome" -MONDO:0007341 oboInOwl:hasExactSynonym "rhizomelic shortness with clavicular defect" -MONDO:0007341 oboInOwl:hasExactSynonym "Wallis-Zieff-Goldblatt syndrome" GO:0031336 oboInOwl:hasExactSynonym "negative regulation of sulfur amino acid metabolism" GO:0031336 oboInOwl:hasExactSynonym "down regulation of sulfur amino acid metabolic process" GO:0031336 oboInOwl:hasExactSynonym "down-regulation of sulfur amino acid metabolic process" GO:0031336 oboInOwl:hasExactSynonym "downregulation of sulfur amino acid metabolic process" +MONDO:0007341 oboInOwl:hasExactSynonym "cleidorhizomelic syndrome" +MONDO:0007341 oboInOwl:hasExactSynonym "rhizomelic shortness with clavicular defect" +MONDO:0007341 oboInOwl:hasExactSynonym "Wallis-Zieff-Goldblatt syndrome" SO:1000030 oboInOwl:hasExactSynonym "chromosomal inversion" MONDO:0013941 oboInOwl:hasExactSynonym "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria" MONDO:0020748 oboInOwl:hasExactSynonym "STSL2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -89828,6 +89865,7 @@ MONDO:0014358 oboInOwl:hasExactSynonym "Xia-Gibbs syndrome" MONDO:0014358 oboInOwl:hasExactSynonym "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome" MONDO:0013295 oboInOwl:hasExactSynonym "atopic dermatitis type 9" MONDO:0013295 oboInOwl:hasExactSynonym "ATOD9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013295 oboInOwl:hasExactSynonym "dermatitis, atopic, susceptibility to, 9" MONDO:0005383 oboInOwl:hasExactSynonym "panic anxiety syndrome" MONDO:0015586 oboInOwl:hasExactSynonym "benign FMTLE" MONDO:0030399 oboInOwl:hasExactSynonym "VSCN2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -89883,6 +89921,7 @@ MONDO:0002256 oboInOwl:hasExactSynonym "disease or disorder of uterine cervix" MONDO:0002256 oboInOwl:hasExactSynonym "disorder of uterine cervix" MONDO:0002256 oboInOwl:hasExactSynonym "disease of uterine cervix" MONDO:0003643 oboInOwl:hasExactSynonym "giant hemangioma" +MONDO:0010321 oboInOwl:hasExactSynonym "autism susceptibility, X-linked 1" MONDO:0010321 oboInOwl:hasExactSynonym "autism, susceptibility to, X-linked type 1" MONDO:0010321 oboInOwl:hasExactSynonym "autism, susceptibility to, X-linked 1" MONDO:0008027 oboInOwl:hasExactSynonym "muscular atrophy, malignant neurogenic" @@ -89935,6 +89974,7 @@ MONDO:0009411 oboInOwl:hasExactSynonym "autoimmune hypoparathyroidism-chronic ca MONDO:0009411 oboInOwl:hasExactSynonym "autoimmune polyendocrine syndrome type 1" MONDO:0009411 oboInOwl:hasExactSynonym "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" MONDO:0009411 oboInOwl:hasExactSynonym "APECED syndrome" +MONDO:0009411 oboInOwl:hasExactSynonym "autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia" MONDO:0009411 oboInOwl:hasExactSynonym "polyglandular autoimmune syndrome type 1" MONDO:0009411 oboInOwl:hasExactSynonym "autoimmune polyglandular syndrome I" MONDO:0009411 oboInOwl:hasExactSynonym "autoimmune polyendocrinopathy caused by mutation in AIRE" @@ -89945,10 +89985,12 @@ MONDO:0009411 oboInOwl:hasExactSynonym "APS type 1" MONDO:0009411 oboInOwl:hasExactSynonym "MEDAC syndrome" MONDO:0009411 oboInOwl:hasExactSynonym "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome" MONDO:0013074 oboInOwl:hasExactSynonym "Fishman syndrome" +MONDO:0013074 oboInOwl:hasExactSynonym "encephalocraniocutaneous lipomatosis, somatic mosaic" MONDO:0013074 oboInOwl:hasExactSynonym "Haberland syndrome" MONDO:0013074 oboInOwl:hasExactSynonym "encephalocraniocutaneous lipomatosis" MONDO:0013074 oboInOwl:hasExactSynonym "ECCL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP:0003077 oboInOwl:hasExactSynonym "Elevated lipids in blood" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0011607 oboInOwl:hasExactSynonym "narcolepsy 2" MONDO:0011607 oboInOwl:hasExactSynonym "narcolepsy 2, susceptibility to" MONDO:0011607 oboInOwl:hasExactSynonym "NRCLP2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0034654 oboInOwl:hasExactSynonym "nucleobase, nucleoside, nucleotide and nucleic acid biosynthesis" @@ -89966,6 +90008,7 @@ MONDO:0009614 oboInOwl:hasExactSynonym "vitamin B12-responsive methylmalonic aci MONDO:0009614 oboInOwl:hasExactSynonym "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type" MONDO:0009614 oboInOwl:hasExactSynonym "methylmalonic aciduria cblB type" MONDO:0009614 oboInOwl:hasExactSynonym "vitamin B12-responsive methylmalonic aciduria, type cblB" +MONDO:0009614 oboInOwl:hasExactSynonym "Methylmalonic aciduria, vitamin B12-responsive, cblB type" MONDO:0012008 oboInOwl:hasExactSynonym "Lelis syndrome" MONDO:0012008 oboInOwl:hasExactSynonym "ectodermal dysplasia-acanthosis nigricans syndrome" MONDO:0002514 oboInOwl:hasExactSynonym "liver and biliary system neoplasm" @@ -89984,6 +90027,7 @@ MONDO:0002514 oboInOwl:hasExactSynonym "hepatic and biliary tumors" MONDO:0002514 oboInOwl:hasExactSynonym "hepatobiliary system neoplasm (disease)" MONDO:0002514 oboInOwl:hasExactSynonym "hepatobiliary tumor" MONDO:0011292 oboInOwl:hasExactSynonym "dermatitis, atopic" +MONDO:0011292 oboInOwl:hasExactSynonym "dermatitis, atopic, susceptibility to, 1" MONDO:0044321 oboInOwl:hasExactSynonym "structural heart defects and renal anomalies syndrome" MONDO:0021054 oboInOwl:hasExactSynonym "sarcoma of the bone" MONDO:0021054 oboInOwl:hasExactSynonym "sarcoma of bone" @@ -90004,6 +90048,7 @@ MONDO:0008855 oboInOwl:hasExactSynonym "BLSII" http://purl.obolibrary.org/obo/mo MONDO:0008855 oboInOwl:hasExactSynonym "Bare lymphocyte syndrome type 2" MONDO:0008855 oboInOwl:hasExactSynonym "major histocompatibility complex class II expression deficiency" MONDO:0008855 oboInOwl:hasExactSynonym "SCID due to absent class II HLA antigens" +MONDO:0008855 oboInOwl:hasExactSynonym "MHC class II deficiency, complementation group B" MONDO:0014523 oboInOwl:hasExactSynonym "combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome" MONDO:0000297 oboInOwl:hasExactSynonym "Baylisascaris procyonis caused disease or disorder" MONDO:0000297 oboInOwl:hasExactSynonym "Baylisascaris procyonis infectious disease" @@ -90029,6 +90074,7 @@ CL:0000119 oboInOwl:hasExactSynonym "Golgi neuron" CL:0000119 oboInOwl:hasExactSynonym "cerebellum Golgi cell" CL:0000119 oboInOwl:hasExactSynonym "Golgi cell" CL:0000119 oboInOwl:hasExactSynonym "cerebellar Golgi neuron" +MONDO:0033541 oboInOwl:hasExactSynonym "immunodeficiency 69, mycobacteriosis" GO:0016043 oboInOwl:hasExactSynonym "cellular component organisation at cellular level" GO:0016043 oboInOwl:hasExactSynonym "cell organisation" GO:0016043 oboInOwl:hasExactSynonym "cellular component organization in other organism" @@ -90067,6 +90113,7 @@ CHEBI:26537 oboInOwl:hasExactSynonym "retinoids" CHEBI:26537 oboInOwl:hasExactSynonym "retinoid" CHEBI:33671 oboInOwl:hasExactSynonym "heteropolycyclic compounds" MONDO:0030063 oboInOwl:hasExactSynonym "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" +MONDO:0030063 oboInOwl:hasExactSynonym "neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities" MONDO:0030063 oboInOwl:hasExactSynonym "NEDSHBA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030063 oboInOwl:hasExactSynonym "NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES" MONDO:0012752 oboInOwl:hasExactSynonym "ANIB6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -90168,8 +90215,8 @@ MONDO:0005991 oboInOwl:hasExactSynonym "His-Werner disease" MONDO:0005991 oboInOwl:hasExactSynonym "tibialgic fever" MONDO:0020065 oboInOwl:hasExactSynonym "dystonia-plus syndrome" MONDO:0013746 oboInOwl:hasExactSynonym "GATA4 ventricular septal defect (disease)" -MONDO:0013746 oboInOwl:hasExactSynonym "ventricular septal defect 1" MONDO:0013746 oboInOwl:hasExactSynonym "ventricular septal defect (disease) caused by mutation in GATA4" +MONDO:0013746 oboInOwl:hasExactSynonym "ventricular septal defect 1" MONDO:0013746 oboInOwl:hasExactSynonym "ventricular septal defect type 1" MONDO:0021329 oboInOwl:hasExactSynonym "soft palate carcinoma" MONDO:0021329 oboInOwl:hasExactSynonym "carcinoma of the soft palate" @@ -90205,6 +90252,7 @@ HP:0002901 oboInOwl:hasExactSynonym "Low blood calcium levels" http://purl.oboli MONDO:0020380 oboInOwl:hasExactSynonym "ADCA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020380 oboInOwl:hasExactSynonym "cerebellar ataxia, autosomal dominant" MONDO:0020380 oboInOwl:hasExactSynonym "autosomal dominant spinocerebellar ataxia" +MONDO:0012344 oboInOwl:hasExactSynonym "Alzheimer disease-11" MONDO:0012344 oboInOwl:hasExactSynonym "AD11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012344 oboInOwl:hasExactSynonym "Alzheimer's disease 11" MONDO:0012344 oboInOwl:hasExactSynonym "Alzheimer disease type 11" @@ -90241,6 +90289,7 @@ MONDO:0012531 oboInOwl:hasExactSynonym "XPBC" http://purl.obolibrary.org/obo/mon MONDO:0012531 oboInOwl:hasExactSynonym "ERCC3 xeroderma pigmentosum" MONDO:0012531 oboInOwl:hasExactSynonym "xeroderma pigmentosum caused by mutation in ERCC3" MONDO:0012531 oboInOwl:hasExactSynonym "xeroderma pigmentosum, complementation group type B" +MONDO:0012531 oboInOwl:hasExactSynonym "xeroderma pigmentosum, group B" MONDO:0012531 oboInOwl:hasExactSynonym "XPB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012531 oboInOwl:hasExactSynonym "XP-B" MONDO:0011975 oboInOwl:hasExactSynonym "paternal uniparental disomy of chromosome 14" @@ -90266,15 +90315,15 @@ MONDO:0007740 oboInOwl:hasExactSynonym "Wagner syndrome" MONDO:0007740 oboInOwl:hasExactSynonym "vitreoretinal degeneration, Wagner type" MONDO:0007740 oboInOwl:hasExactSynonym "dominant hyaloideoretinal dystrophy of Wagner" MONDO:0007740 oboInOwl:hasExactSynonym "Wagner disease" +MONDO:0030134 oboInOwl:hasExactSynonym "oculopharyngodistal myopathy 2" +MONDO:0030134 oboInOwl:hasExactSynonym "OPDM2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0030134 oboInOwl:hasExactSynonym "OCULOPHARYNGODISTAL MYOPATHY 2" MONDO:0004021 oboInOwl:hasExactSynonym "primary mediastinal lymphoma" MONDO:0004021 oboInOwl:hasExactSynonym "lymphoma of mediastinum" MONDO:0004021 oboInOwl:hasExactSynonym "mediastinum lymphoma" MONDO:0004021 oboInOwl:hasExactSynonym "mediastinal malignant lymphoma" MONDO:0004021 oboInOwl:hasExactSynonym "lymphoma of the mediastinum" MONDO:0004021 oboInOwl:hasExactSynonym "mediastinal lymphoma" -MONDO:0030134 oboInOwl:hasExactSynonym "oculopharyngodistal myopathy 2" -MONDO:0030134 oboInOwl:hasExactSynonym "OPDM2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0030134 oboInOwl:hasExactSynonym "OCULOPHARYNGODISTAL MYOPATHY 2" MONDO:0008308 oboInOwl:hasExactSynonym "priapism, familial idiopathic" GO:0047453 oboInOwl:hasExactSynonym "ATP-dependent H4NAD(P)OH dehydratase activity" GO:0047453 oboInOwl:hasExactSynonym "ATP-dependent H(4)NAD(P)OH dehydratase activity" @@ -90431,6 +90480,7 @@ MONDO:0100485 oboInOwl:hasExactSynonym "KCNH1 related disorder" MONDO:0011567 oboInOwl:hasExactSynonym "dilated cardiomyopathy type 1K" MONDO:0011567 oboInOwl:hasExactSynonym "CMD1K" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010352 oboInOwl:hasExactSynonym "MRX82" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010352 oboInOwl:hasExactSynonym "mental retardation, X-linked 82, X-linked recessive" MONDO:0010352 oboInOwl:hasExactSynonym "intellectual disability, X-linked 82" MONDO:0004938 oboInOwl:hasExactSynonym "dependence" MONDO:0044313 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 60" @@ -90454,8 +90504,8 @@ MONDO:0017323 oboInOwl:hasExactSynonym "Calciopenic rickets" MONDO:0011097 oboInOwl:hasExactSynonym "Rieger syndrome type 2" MONDO:0011097 oboInOwl:hasExactSynonym "RIEG2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:30742 oboInOwl:hasExactSynonym "Ethylene glycol" -CHEBI:30742 oboInOwl:hasExactSynonym "ethylene glycol" CHEBI:30742 oboInOwl:hasExactSynonym "ethane-1,2-diol" +CHEBI:30742 oboInOwl:hasExactSynonym "ethylene glycol" NCBITaxon:8049 oboInOwl:hasExactSynonym "Atlantic cod" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name GO:0046390 oboInOwl:hasExactSynonym "ribose phosphate formation" GO:0046390 oboInOwl:hasExactSynonym "ribose phosphate anabolism" @@ -90463,13 +90513,14 @@ GO:0046390 oboInOwl:hasExactSynonym "ribose phosphate biosynthesis" GO:0046390 oboInOwl:hasExactSynonym "ribose phosphate synthesis" MONDO:0008699 oboInOwl:hasExactSynonym "achalasia-microcephaly syndrome" MONDO:0008699 oboInOwl:hasExactSynonym "achalasia microcephaly" +MONDO:0014328 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 19" MONDO:0014328 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 19" MONDO:0014328 oboInOwl:hasExactSynonym "Early Infantile epileptic encephalopathy 19" MONDO:0014328 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 19" MONDO:0014328 oboInOwl:hasExactSynonym "EIEE19" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014328 oboInOwl:hasExactSynonym "DEE19" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014328 oboInOwl:hasExactSynonym "GABRA1 early infantile epileptic encephalopathy" MONDO:0014328 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in GABRA1" +MONDO:0014328 oboInOwl:hasExactSynonym "GABRA1 early infantile epileptic encephalopathy" MONDO:0002047 oboInOwl:hasExactSynonym "lung involvement in systemic sclerosis" MONDO:0002047 oboInOwl:hasExactSynonym "scleroderma lung disease" MONDO:0002047 oboInOwl:hasExactSynonym "lung disease with systemic sclerosis" @@ -90494,8 +90545,8 @@ MONDO:0003442 oboInOwl:hasExactSynonym "urinary bladder papillary transitional c MONDO:0003442 oboInOwl:hasExactSynonym "bladder papillary transitional cell neoplasm" MONDO:0015595 oboInOwl:hasExactSynonym "pale" MONDO:0004685 oboInOwl:hasExactSynonym "malignant neoplasm of tonsillar ring" -MONDO:0004685 oboInOwl:hasExactSynonym "malignant neoplasm of Waldeyer's ring" MONDO:0004685 oboInOwl:hasExactSynonym "malignant tonsillar ring neoplasm" +MONDO:0004685 oboInOwl:hasExactSynonym "malignant neoplasm of Waldeyer's ring" MONDO:0004685 oboInOwl:hasExactSynonym "tonsillar ring cancer" MONDO:0004685 oboInOwl:hasExactSynonym "Waldeyer ring cancer" MONDO:0004685 oboInOwl:hasExactSynonym "malignant tumor of Waldeyer's ring" @@ -90535,6 +90586,7 @@ MONDO:0017102 oboInOwl:hasExactSynonym "FCD type IIb" MONDO:0012839 oboInOwl:hasExactSynonym "recurrent pyogenic bacterial infections due to MyD88 deficiency" MONDO:0012839 oboInOwl:hasExactSynonym "MyD88 deficiency" MONDO:0012839 oboInOwl:hasExactSynonym "MYD88D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012839 oboInOwl:hasExactSynonym "immunodeficiency 68" MONDO:0012839 oboInOwl:hasExactSynonym "pyogenic bacterial infections, recurrent, due to MyD88 deficiency" MONDO:0007446 oboInOwl:hasExactSynonym "dermatosis papulosa nigra" MONDO:0007446 oboInOwl:hasExactSynonym "dermatosis papulosa nigra (morphologic abnormality)" @@ -90568,6 +90620,7 @@ MONDO:0018543 oboInOwl:hasExactSynonym "AD hypocalcemia" MONDO:0014107 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 21 with or without anosmia" MONDO:0014107 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism caused by mutation in FLRT3" MONDO:0014107 oboInOwl:hasExactSynonym "FLRT3 hypogonadotropic hypogonadism" +MONDO:0014107 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 21 with anosmia" MONDO:0008050 oboInOwl:hasExactSynonym "Laing distal myopathy" MONDO:0008050 oboInOwl:hasExactSynonym "MPD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008050 oboInOwl:hasExactSynonym "myosin storage myopathy" @@ -90596,8 +90649,8 @@ MONDO:0004394 oboInOwl:hasExactSynonym "maxillary sinus epidermoid carcinoma" MONDO:0004394 oboInOwl:hasExactSynonym "maxillary antrum squamous cell carcinoma" MONDO:0004394 oboInOwl:hasExactSynonym "epidermoid carcinoma of maxillary antrum" MONDO:0004394 oboInOwl:hasExactSynonym "epidermoid carcinoma of maxillary sinus" -MONDO:0004394 oboInOwl:hasExactSynonym "squamous cell carcinoma of maxillary sinus" MONDO:0004394 oboInOwl:hasExactSynonym "squamous cell carcinoma of the maxillary antrum" +MONDO:0004394 oboInOwl:hasExactSynonym "squamous cell carcinoma of maxillary sinus" MONDO:0004394 oboInOwl:hasExactSynonym "maxillofacial sinus squamous cell carcinoma" MONDO:0004394 oboInOwl:hasExactSynonym "maxillary sinus squamous cell carcinoma" MONDO:0004394 oboInOwl:hasExactSynonym "maxillary antrum epidermoid carcinoma" @@ -90656,6 +90709,7 @@ MONDO:0009927 oboInOwl:hasExactSynonym "COLEC11 3MC syndrome" MONDO:0009927 oboInOwl:hasExactSynonym "3MC syndrome 2" MONDO:0009927 oboInOwl:hasExactSynonym "3MC syndrome caused by mutation in COLEC11" MONDO:0012336 oboInOwl:hasExactSynonym "CTRCT22" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012336 oboInOwl:hasExactSynonym "cataract 22" MONDO:0012336 oboInOwl:hasExactSynonym "early-onset non-syndromic cataract caused by mutation in CRYBB3" MONDO:0012336 oboInOwl:hasExactSynonym "CRYBB3 early-onset non-syndromic cataract" MONDO:0008864 oboInOwl:hasExactSynonym "hypogonadism-short stature-coloboma-preaxial polydactyly syndrome" @@ -90667,6 +90721,7 @@ MONDO:0009375 oboInOwl:hasExactSynonym "hymen, imperforate" MONDO:0017824 oboInOwl:hasExactSynonym "FIPA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011598 oboInOwl:hasExactSynonym "ATOD4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011598 oboInOwl:hasExactSynonym "atopic dermatitis type 4" +MONDO:0011598 oboInOwl:hasExactSynonym "dermatitis, atopic, susceptibility to, 4" MONDO:0021759 oboInOwl:hasExactSynonym "acquired fructose intolerance" MONDO:0021250 oboInOwl:hasExactSynonym "tonsillar neoplasm" MONDO:0021250 oboInOwl:hasExactSynonym "tonsillar neoplasms" @@ -90692,8 +90747,8 @@ HP:0100799 oboInOwl:hasExactSynonym "Middle ear tumour" http://purl.obolibrary.o MONDO:0010378 oboInOwl:hasExactSynonym "X-linked auditory neuropathy with peripheral sensory neuropathy type 1" MONDO:0014194 oboInOwl:hasExactSynonym "mitochondrial complex III deficiency caused by mutation in CYC1" MONDO:0014194 oboInOwl:hasExactSynonym "CYC1 mitochondrial complex III deficiency" -MONDO:0100114 oboInOwl:hasExactSynonym "dry ARMD" MONDO:0100114 oboInOwl:hasExactSynonym "dry AMD" +MONDO:0100114 oboInOwl:hasExactSynonym "dry ARMD" MONDO:0020443 oboInOwl:hasExactSynonym "absence of brachiocephalic vein" MONDO:0013777 oboInOwl:hasExactSynonym "PHA2B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013777 oboInOwl:hasExactSynonym "pseudohypoaldosteronism type 2 caused by mutation in WNK4" @@ -90741,18 +90796,20 @@ MONDO:0014381 oboInOwl:hasExactSynonym "progressive familial intrahepatic choles MONDO:0014381 oboInOwl:hasExactSynonym "cholestasis, progressive familial intrahepatic, type 4" MONDO:0012722 oboInOwl:hasExactSynonym "Dauwerse-Peters syndrome" MONDO:0023069 oboInOwl:hasExactSynonym "enlarged vestibular aqueduct syndrome" -MONDO:0003706 oboInOwl:hasExactSynonym "adult brain stem astrocytoma" -MONDO:0003706 oboInOwl:hasExactSynonym "adult brainstem astrocytoma" MONDO:0030072 oboInOwl:hasExactSynonym "EIEE88" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030072 oboInOwl:hasExactSynonym "DEE88" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030072 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88" MONDO:0030072 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 88" +MONDO:0030072 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 88" +MONDO:0003706 oboInOwl:hasExactSynonym "adult brain stem astrocytoma" +MONDO:0003706 oboInOwl:hasExactSynonym "adult brainstem astrocytoma" ECTO:4000031 oboInOwl:hasExactSynonym "exposure to increased amount in temperature of water" GO:1902573 oboInOwl:hasExactSynonym "up regulation of serine-type peptidase activity" GO:1902573 oboInOwl:hasExactSynonym "upregulation of serine-type peptidase activity" GO:1902573 oboInOwl:hasExactSynonym "up-regulation of serine-type peptidase activity" MONDO:0014359 oboInOwl:hasExactSynonym "pigmented nodular adrenocortical disease, primary, type 4" MONDO:0014359 oboInOwl:hasExactSynonym "pigmented nodular adrenocortical disease, primary, 4" +MONDO:0014359 oboInOwl:hasExactSynonym "Cushing syndrome, ACTH-independent adrenal, somatic" MONDO:0014359 oboInOwl:hasExactSynonym "PRKACA primary pigmented nodular adrenocortical disease" MONDO:0014359 oboInOwl:hasExactSynonym "primary pigmented nodular adrenocortical disease caused by mutation in PRKACA" MONDO:0009980 oboInOwl:hasExactSynonym "retinal telangiectasia and hypogammaglobulinemia" @@ -90765,21 +90822,22 @@ MONDO:0006669 oboInOwl:hasExactSynonym "Bacteria endocarditis (disease)" MONDO:0006669 oboInOwl:hasExactSynonym "bacterial endocarditis (disease)" MONDO:0006669 oboInOwl:hasExactSynonym "bacterial endocarditis" MONDO:0006669 oboInOwl:hasExactSynonym "Bacteria caused endocarditis (disease)" -MONDO:0008760 oboInOwl:hasExactSynonym "mitochondrial acetoacetyl-CoA thiolase deficiency" -MONDO:0008760 oboInOwl:hasExactSynonym "Alpha-methyl-acetoacetyl-CoA thiolase deficiency" -MONDO:0008760 oboInOwl:hasExactSynonym "beta-ketothiolase deficiency" MONDO:0008760 oboInOwl:hasExactSynonym "mitochondrial acetoacetyl-coenzyme A thiolase deficiency" +MONDO:0008760 oboInOwl:hasExactSynonym "2-methyl-3-hydroxybutyricacidemia" +MONDO:0008760 oboInOwl:hasExactSynonym "BKT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008760 oboInOwl:hasExactSynonym "mitochondrial acetoacetyl-CoA thiolase deficiency" MONDO:0008760 oboInOwl:hasExactSynonym "peroxisomal thiolase deficiency" MONDO:0008760 oboInOwl:hasExactSynonym "Alpha methylacetoacetic aciduria" +MONDO:0008760 oboInOwl:hasExactSynonym "alpha-methylacetoaceticaciduria" +MONDO:0008760 oboInOwl:hasExactSynonym "beta-ketothiolase deficiency" +MONDO:0008760 oboInOwl:hasExactSynonym "Alpha-methyl-acetoacetyl-CoA thiolase deficiency" MONDO:0008760 oboInOwl:hasExactSynonym "3-ketothiolase deficiency" -MONDO:0008760 oboInOwl:hasExactSynonym "BKT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008760 oboInOwl:hasExactSynonym "2-methyl-3-hydroxybutyricacidemia" MONDO:0008760 oboInOwl:hasExactSynonym "3-oxothiolase deficiency" -MONDO:0008760 oboInOwl:hasExactSynonym "alpha-methylacetoaceticaciduria" MONDO:0008760 oboInOwl:hasExactSynonym "T2 deficiency" MONDO:0015216 oboInOwl:hasExactSynonym "syndrome associated with diaphragmatic or abdominal wall malformation" MONDO:0015216 oboInOwl:hasExactSynonym "syndromic diaphragmatic or abdominal wall malformation" MONDO:0010614 oboInOwl:hasExactSynonym "Macias Flores-Garcia Cruz-Rivera syndrome" +MONDO:0010614 oboInOwl:hasExactSynonym "hypertrichosis, congenital generalized, X-linked dominant" MONDO:0010614 oboInOwl:hasExactSynonym "congenital generalized hypertrichosis, Macias-Flores type" MONDO:0016774 oboInOwl:hasExactSynonym "lichen planus pigmentosa" MONDO:0016774 oboInOwl:hasExactSynonym "LP pigmentosus" @@ -90805,6 +90863,7 @@ MONDO:0013651 oboInOwl:hasExactSynonym "MED23 autosomal recessive non-syndromic MONDO:0013651 oboInOwl:hasExactSynonym "autosomal recessive non-syndromic intellectual disability caused by mutation in MED23" MONDO:0013651 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 18" MONDO:0013651 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 18" +MONDO:0013651 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 18, with or without epilepsy" MONDO:0013651 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 18" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0003644 oboInOwl:hasExactSynonym "cavernous angioma of colon" MONDO:0003644 oboInOwl:hasExactSynonym "cavernous hemangioma of colon" @@ -90879,6 +90938,8 @@ MONDO:0002257 oboInOwl:hasExactSynonym "ankylosis (disease)" MONDO:0002257 oboInOwl:hasExactSynonym "ankylosis" MONDO:0015645 oboInOwl:hasExactSynonym "eating epilepsy" MONDO:0009225 oboInOwl:hasExactSynonym "fever, familial lifelong persistent" +MONDO:0010322 oboInOwl:hasExactSynonym "MRX2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010322 oboInOwl:hasExactSynonym "intellectual disability, X-linked 2" MONDO:0004559 oboInOwl:hasExactSynonym "malignant glandular peripheral nerve sheath neoplasm" MONDO:0004559 oboInOwl:hasExactSynonym "malignant glandular tumor of peripheral nerve sheath" MONDO:0004559 oboInOwl:hasExactSynonym "glandular malignant peripheral nerve sheath tumor" @@ -90888,8 +90949,6 @@ MONDO:0004559 oboInOwl:hasExactSynonym "malignant glandular schwannoma" MONDO:0004559 oboInOwl:hasExactSynonym "malignant glandular peripheral nerve sheath tumor" MONDO:0004559 oboInOwl:hasExactSynonym "glandular MPNST" MONDO:0004559 oboInOwl:hasExactSynonym "malignant glandular tumor of the peripheral nerve sheath" -MONDO:0010322 oboInOwl:hasExactSynonym "MRX2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010322 oboInOwl:hasExactSynonym "intellectual disability, X-linked 2" MONDO:0011880 oboInOwl:hasExactSynonym "CANDF3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011880 oboInOwl:hasExactSynonym "candidiasis, familial, 3" MONDO:0001569 oboInOwl:hasExactSynonym "acoustic neurilemoma" @@ -90916,6 +90975,10 @@ MONDO:0002515 oboInOwl:hasExactSynonym "hepatobiliary system disease" MONDO:0002515 oboInOwl:hasExactSynonym "disorder of hepatobiliary system" MONDO:0044322 oboInOwl:hasExactSynonym "intellectual developmental disorder with neuropsychiatric features" MONDO:0012501 oboInOwl:hasExactSynonym "mutagen sensitivity" +MONDO:0009583 oboInOwl:hasExactSynonym "Ohdo syndrome" +MONDO:0009583 oboInOwl:hasExactSynonym "BMRS, Ohdo type" +MONDO:0009583 oboInOwl:hasExactSynonym "blepharophimosis syndrome, Ohdo type" +MONDO:0009583 oboInOwl:hasExactSynonym "Ohdo-Madokoro-Sonoda syndrome" MONDO:0003698 oboInOwl:hasExactSynonym "verrucous squamous carcinoma of the penis" MONDO:0003698 oboInOwl:hasExactSynonym "verrucous squamous carcinoma of penis" MONDO:0003698 oboInOwl:hasExactSynonym "verrucous carcinoma of the penis" @@ -90925,10 +90988,6 @@ MONDO:0003698 oboInOwl:hasExactSynonym "verrucous penile squamous carcinoma" MONDO:0003698 oboInOwl:hasExactSynonym "squamous carcinoma of penis, verrucous type" MONDO:0003698 oboInOwl:hasExactSynonym "squamous carcinoma of the penis, verrucous type" MONDO:0003698 oboInOwl:hasExactSynonym "verrucous penile carcinoma" -MONDO:0009583 oboInOwl:hasExactSynonym "Ohdo syndrome" -MONDO:0009583 oboInOwl:hasExactSynonym "BMRS, Ohdo type" -MONDO:0009583 oboInOwl:hasExactSynonym "blepharophimosis syndrome, Ohdo type" -MONDO:0009583 oboInOwl:hasExactSynonym "Ohdo-Madokoro-Sonoda syndrome" HP:0000168 oboInOwl:hasExactSynonym "Gingival abnormality" HP:0000168 oboInOwl:hasExactSynonym "Abnormality of the gums" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0005163 oboInOwl:hasExactSynonym "Simian immunodeficiency virus disease or disorder" @@ -90941,12 +91000,14 @@ MONDO:0007016 oboInOwl:hasExactSynonym "vitamin A deficiency (disease)" MONDO:0006903 oboInOwl:hasExactSynonym "peroneal nerve palsy" MONDO:0006903 oboInOwl:hasExactSynonym "palsy, peroneal nerve" MONDO:0006903 oboInOwl:hasExactSynonym "nerve palsy, peroneal" -MONDO:0011608 oboInOwl:hasExactSynonym "ATOD5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011608 oboInOwl:hasExactSynonym "atopic dermatitis type 5" GO:0034655 oboInOwl:hasExactSynonym "nucleobase, nucleoside, nucleotide and nucleic acid catabolism" GO:0034655 oboInOwl:hasExactSynonym "nucleobase, nucleoside, nucleotide and nucleic acid degradation" GO:0034655 oboInOwl:hasExactSynonym "nucleobase, nucleoside, nucleotide and nucleic acid breakdown" +MONDO:0011608 oboInOwl:hasExactSynonym "dermatitis, atopic, susceptibility to, 5" +MONDO:0011608 oboInOwl:hasExactSynonym "ATOD5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011608 oboInOwl:hasExactSynonym "atopic dermatitis type 5" GO:0099103 oboInOwl:hasExactSynonym "channel gating activity" +MONDO:0014055 oboInOwl:hasExactSynonym "epilepsy, myoclonic, familial adult, 4" MONDO:0014055 oboInOwl:hasExactSynonym "FAME4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013942 oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 8A (Zellweger)" MONDO:0021525 oboInOwl:hasExactSynonym "benign uterine body tumor" @@ -90989,6 +91050,7 @@ MONDO:0013296 oboInOwl:hasExactSynonym "myeloid/lymphoid neoplasms with FGFR1 re MONDO:0013296 oboInOwl:hasExactSynonym "8p11 stem cell leukemia/lymphoma syndrome" MONDO:0013296 oboInOwl:hasExactSynonym "myeloid and lymphoid neoplasms with FGFR1 rearrangement" MONDO:0011984 oboInOwl:hasExactSynonym "synpolydactyly type 2" +MONDO:0011984 oboInOwl:hasExactSynonym "synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses" MONDO:0011984 oboInOwl:hasExactSynonym "FBLN1 non-syndromic synpolydactyly" MONDO:0011984 oboInOwl:hasExactSynonym "SPD, Debeer type" MONDO:0011984 oboInOwl:hasExactSynonym "SD2b" @@ -91006,9 +91068,11 @@ MONDO:0012930 oboInOwl:hasExactSynonym "SCN4" http://purl.obolibrary.org/obo/mon MONDO:0012930 oboInOwl:hasExactSynonym "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" MONDO:0012930 oboInOwl:hasExactSynonym "severe congenital neutropenia type 4" MONDO:0012930 oboInOwl:hasExactSynonym "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome" +MONDO:0012930 oboInOwl:hasExactSynonym "neutropenia, severe congenital 4, autosomal recessive" NCBITaxon:3745 oboInOwl:hasExactSynonym "rose family" http://purl.obolibrary.org/obo/ncbitaxon#common_name MONDO:0014524 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 47" MONDO:0014524 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 47" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0014524 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 47" MONDO:0014524 oboInOwl:hasExactSynonym "FMN2 autosomal recessive non-syndromic intellectual disability" MONDO:0014524 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 47" MONDO:0014524 oboInOwl:hasExactSynonym "autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2" @@ -91026,6 +91090,7 @@ MONDO:0024675 oboInOwl:hasExactSynonym "adenosarcoma of the adult kidney" MONDO:0024675 oboInOwl:hasExactSynonym "adult renal Wilms' tumor" MONDO:0024675 oboInOwl:hasExactSynonym "adult nephroblastoma" MONDO:0024675 oboInOwl:hasExactSynonym "adenosarcoma of adult kidney" +MONDO:0011312 oboInOwl:hasExactSynonym "thyroid carcinoma, nonmedullary, with cell oxyphilia" MONDO:0011312 oboInOwl:hasExactSynonym "thyroid carcinoma, nonmedullary, with or without cell oxyphilia" MONDO:0013512 oboInOwl:hasExactSynonym "alpha-thalassemia intermedia" MONDO:0013512 oboInOwl:hasExactSynonym "hemoglobin H disease" @@ -91033,6 +91098,7 @@ MONDO:0013512 oboInOwl:hasExactSynonym "alpha thalassemia, hemoglobin H type" MONDO:0013512 oboInOwl:hasExactSynonym "HbH" MONDO:0013512 oboInOwl:hasExactSynonym "HbH disease" MONDO:0013512 oboInOwl:hasExactSynonym "Alpha-thalassemia intermedia" +MONDO:0013512 oboInOwl:hasExactSynonym "hemoglobin H disease, deletional and nondeletional" MONDO:0013512 oboInOwl:hasExactSynonym "hemoglobin H disease, deletional" MONDO:0016169 oboInOwl:hasExactSynonym "CADP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016169 oboInOwl:hasExactSynonym "acquired peripheral neuropathy, chronic" @@ -91049,22 +91115,24 @@ MONDO:0100327 oboInOwl:hasExactSynonym "hypercholanemia, familial" MONDO:0100327 oboInOwl:hasExactSynonym "familial hypercholanemia" MONDO:0015424 oboInOwl:hasExactSynonym "Moerman-Vandenberghe-Fryns syndrome" HP:0011283 oboInOwl:hasExactSynonym "Abnormality of the metencephalon" -MONDO:0018513 oboInOwl:hasExactSynonym "colon epidermoid carcinoma" -MONDO:0018513 oboInOwl:hasExactSynonym "epidermoid carcinoma of the colon" -MONDO:0018513 oboInOwl:hasExactSynonym "colon squamous cell cancer" MONDO:0018513 oboInOwl:hasExactSynonym "squamous cell carcinoma of colon" +MONDO:0018513 oboInOwl:hasExactSynonym "colon squamous cell cancer" +MONDO:0018513 oboInOwl:hasExactSynonym "epidermoid carcinoma of the colon" +MONDO:0018513 oboInOwl:hasExactSynonym "colonic squamous cell carcinoma" MONDO:0018513 oboInOwl:hasExactSynonym "squamous cell colon carcinoma" -MONDO:0018513 oboInOwl:hasExactSynonym "colonic epidermoid carcinoma" +MONDO:0018513 oboInOwl:hasExactSynonym "colon epidermoid carcinoma" +MONDO:0018513 oboInOwl:hasExactSynonym "epidermoid carcinoma of colon" MONDO:0018513 oboInOwl:hasExactSynonym "colon squamous cell carcinoma" MONDO:0018513 oboInOwl:hasExactSynonym "squamous cell carcinoma of the colon" -MONDO:0018513 oboInOwl:hasExactSynonym "colonic squamous cell carcinoma" -MONDO:0018513 oboInOwl:hasExactSynonym "epidermoid carcinoma of colon" +MONDO:0018513 oboInOwl:hasExactSynonym "colonic epidermoid carcinoma" +MONDO:0013474 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 17" MONDO:0013474 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, type 17" MONDO:0013474 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 17" MONDO:0013474 oboInOwl:hasExactSynonym "JPH2 hypertrophic cardiomyopathy" MONDO:0013474 oboInOwl:hasExactSynonym "cardiomyopathy familial hypertrophic 17" MONDO:0013474 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy caused by mutation in JPH2" MONDO:0013474 oboInOwl:hasExactSynonym "CMH17" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014420 oboInOwl:hasExactSynonym "acid-labile subunit, deficiency of" MONDO:0007110 oboInOwl:hasExactSynonym "Diamond-Blackfan anemia 1" MONDO:0007110 oboInOwl:hasExactSynonym "Diamond-Blackfan Anemia type 1" MONDO:0007110 oboInOwl:hasExactSynonym "Diamond-Blackfan anemia caused by mutation in RPS19" @@ -91160,6 +91228,7 @@ MONDO:0019040 oboInOwl:hasExactSynonym "chromosomal disorders" MONDO:0019040 oboInOwl:hasExactSynonym "disorders, chromosome" MONDO:0019040 oboInOwl:hasExactSynonym "disorders, chromosomal" MONDO:0019040 oboInOwl:hasExactSynonym "disorder, chromosome" +MONDO:0008856 oboInOwl:hasExactSynonym "immunodeficiency 27A, mycobacteriosis, AR" MONDO:0008856 oboInOwl:hasExactSynonym "immunodeficiency type 27A" MONDO:0008856 oboInOwl:hasExactSynonym "immunodeficiency 27A" CHEBI:30751 oboInOwl:hasExactSynonym "Formic acid" @@ -91240,6 +91309,7 @@ MONDO:0010574 oboInOwl:hasExactSynonym "X-linked intellectual disability-Dandy-W MONDO:0010574 oboInOwl:hasExactSynonym "Pettigrew syndrome" MONDO:0010574 oboInOwl:hasExactSynonym "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures" MONDO:0010574 oboInOwl:hasExactSynonym "X-linked intellectual disability 59" +MONDO:0010574 oboInOwl:hasExactSynonym "Pettigrew syndrome, X-linked recessive" MONDO:0010574 oboInOwl:hasExactSynonym "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome" MONDO:0010574 oboInOwl:hasExactSynonym "X-linked mental retardation 59" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010574 oboInOwl:hasExactSynonym "syndromic X-linked intellectual disability fried type" @@ -91248,8 +91318,8 @@ MONDO:0010574 oboInOwl:hasExactSynonym "intellectual disability, X-linked syndro MONDO:0010574 oboInOwl:hasExactSynonym "mental retardation, X-linked syndromic 5" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014390 oboInOwl:hasExactSynonym "hypt13" MONDO:0014390 oboInOwl:hasExactSynonym "KRT71 hypotrichosis" -MONDO:0014390 oboInOwl:hasExactSynonym "hypotrichosis type 13" MONDO:0014390 oboInOwl:hasExactSynonym "hypotrichosis 13" +MONDO:0014390 oboInOwl:hasExactSynonym "hypotrichosis type 13" MONDO:0014390 oboInOwl:hasExactSynonym "hypotrichosis with woolly hair" MONDO:0014390 oboInOwl:hasExactSynonym "hypotrichosis caused by mutation in KRT71" MONDO:0043765 oboInOwl:hasExactSynonym "presbycusis" @@ -91263,6 +91333,7 @@ GO:1900131 oboInOwl:hasExactSynonym "down regulation of lipid binding" ECTO:9001347 oboInOwl:hasExactSynonym "exposure to sodium chloride" MONDO:0007362 oboInOwl:hasExactSynonym "cone-rod dystrophy caused by mutation in CRX" MONDO:0007362 oboInOwl:hasExactSynonym "RCRD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007362 oboInOwl:hasExactSynonym "cone-rod retinal dystrophy-2" MONDO:0007362 oboInOwl:hasExactSynonym "CRX cone-rod dystrophy" MONDO:0007362 oboInOwl:hasExactSynonym "cone-rod dystrophy type 2" MONDO:0007362 oboInOwl:hasExactSynonym "CORD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -91343,6 +91414,7 @@ MONDO:0019838 oboInOwl:hasExactSynonym "inflammation of adenohypophysis" MONDO:0060564 oboInOwl:hasExactSynonym "HELIX" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0060564 oboInOwl:hasExactSynonym "hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome" MONDO:0060564 oboInOwl:hasExactSynonym "HELIX syndrome" +MONDO:0026727 oboInOwl:hasExactSynonym "Shukla-Vernon syndrome, X-linked recessive" CHEBI:15377 oboInOwl:hasExactSynonym "Water" CHEBI:15377 oboInOwl:hasExactSynonym "WATER" CHEBI:15377 oboInOwl:hasExactSynonym "water" @@ -91405,6 +91477,7 @@ MONDO:0017324 oboInOwl:hasExactSynonym "ARHR" http://purl.obolibrary.org/obo/mon MONDO:0017324 oboInOwl:hasExactSynonym "autosomal recessive hereditary hypophosphatemic rickets" MONDO:0010166 oboInOwl:hasExactSynonym "ulnar agenesis and endocardial fibroelastosis" MONDO:0011098 oboInOwl:hasExactSynonym "familial prostate cancer caused by mutation in RNASEL" +MONDO:0011098 oboInOwl:hasExactSynonym "prostate cancer 1" MONDO:0011098 oboInOwl:hasExactSynonym "RNASEL familial prostate cancer" MONDO:0011098 oboInOwl:hasExactSynonym "prostate cancer, hereditary, 1" MONDO:0011098 oboInOwl:hasExactSynonym "prostate cancer, hereditary, type 1" @@ -91443,6 +91516,7 @@ MONDO:0010353 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic, MONDO:0010353 oboInOwl:hasExactSynonym "Martin-Probst syndrome" MONDO:0010353 oboInOwl:hasExactSynonym "X-linked deafness-intellectual disability syndrome syndrome" MONDO:0010353 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndromic, Martin-Probst type" +MONDO:0010353 oboInOwl:hasExactSynonym "martin-probst syndrome, X-linked recessive" MONDO:0009950 oboInOwl:hasExactSynonym "pyruvate kinase deficiency of red cells" MONDO:0009950 oboInOwl:hasExactSynonym "hemolytic anemia due to red cell pyruvate kinase deficiency" MONDO:0009950 oboInOwl:hasExactSynonym "pyruvate kinase deficiency of erythrocytes" @@ -91465,6 +91539,7 @@ MONDO:0011804 oboInOwl:hasExactSynonym "caspase eight deficiency state" MONDO:0011804 oboInOwl:hasExactSynonym "CASP8 autoimmune lymphoproliferative syndrome" MONDO:0011804 oboInOwl:hasExactSynonym "caspase 8 deficiency" MONDO:0011804 oboInOwl:hasExactSynonym "ALPS with recurrent viral infections" +MONDO:0011804 oboInOwl:hasExactSynonym "autoimmune lymphoproliferative syndrome, type IIB" MONDO:0011804 oboInOwl:hasExactSynonym "autoimmune lymphoproliferative syndrome type IIB" MONDO:0011804 oboInOwl:hasExactSynonym "autoimmune lymphoproliferative syndrome caused by mutation in CASP8" MONDO:0011804 oboInOwl:hasExactSynonym "caspase 8 deficiency syndrome" @@ -91479,8 +91554,8 @@ MONDO:0021086 oboInOwl:hasExactSynonym "neoplasm of gum" MONDO:0021086 oboInOwl:hasExactSynonym "gum tumor" MONDO:0021086 oboInOwl:hasExactSynonym "gingiva neoplasm" MONDO:0021086 oboInOwl:hasExactSynonym "tumor of the gum" -MONDO:0021086 oboInOwl:hasExactSynonym "tumor of the gingiva" MONDO:0021086 oboInOwl:hasExactSynonym "tumor of gingiva" +MONDO:0021086 oboInOwl:hasExactSynonym "tumor of the gingiva" MONDO:0021086 oboInOwl:hasExactSynonym "gingival tumor" MONDO:0021086 oboInOwl:hasExactSynonym "gingiva tumor" MONDO:0021086 oboInOwl:hasExactSynonym "neoplasm of gingiva" @@ -91509,6 +91584,7 @@ MONDO:0005519 oboInOwl:hasExactSynonym "carcinoma of the kidney pelvis" MONDO:0005519 oboInOwl:hasExactSynonym "renal pelvis carcinoma" MONDO:0005519 oboInOwl:hasExactSynonym "carcinoma of renal pelvis" MONDO:0005519 oboInOwl:hasExactSynonym "carcinoma of the renal pelvis" +MONDO:0007719 oboInOwl:hasExactSynonym "hernia, congenital diaphragmatic 1" NCBITaxon:11908 oboInOwl:hasExactSynonym "Human T-cell leukemia virus type 1" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:11908 oboInOwl:hasExactSynonym "human T-cell leukemia/lymphoma virus type I HTLV-I" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:11908 oboInOwl:hasExactSynonym "Human T cell leukemia virus type 1" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name @@ -91560,10 +91636,13 @@ MONDO:0011156 oboInOwl:hasExactSynonym "PFIC2" http://purl.obolibrary.org/obo/mo MONDO:0011156 oboInOwl:hasExactSynonym "progressive familial intrahepatic cholestasis type 2" MONDO:0011156 oboInOwl:hasExactSynonym "progressive familial intrahepatic cholestasis caused by mutation in ABCB11" MONDO:0011156 oboInOwl:hasExactSynonym "cholestasis, progressive familial intrahepatic, type 2" +MONDO:0011156 oboInOwl:hasExactSynonym "cholestasis, progressive familial intrahepatic 2" MONDO:0011156 oboInOwl:hasExactSynonym "BSEP deficiency" +MONDO:0013999 oboInOwl:hasExactSynonym "ROSAH syndrome" MONDO:0019136 oboInOwl:hasExactSynonym "mucormycosis" MONDO:0019136 oboInOwl:hasExactSynonym "Zygomycota infectious disease" CHEBI:33356 oboInOwl:hasExactSynonym "group 8 elements" +MONDO:0026729 oboInOwl:hasExactSynonym "congenital disorder of glycosylation, type Icc, X-linked recessive" GO:0045683 oboInOwl:hasExactSynonym "negative regulation of epidermal development" GO:0045683 oboInOwl:hasExactSynonym "down-regulation of epidermis development" GO:0045683 oboInOwl:hasExactSynonym "downregulation of epidermis development" @@ -91583,6 +91662,7 @@ MONDO:0007564 oboInOwl:hasExactSynonym "pilomatricoma" MONDO:0007564 oboInOwl:hasExactSynonym "benign pilomatrixoma" MONDO:0007564 oboInOwl:hasExactSynonym "benign hair follicle neoplasm" MONDO:0007564 oboInOwl:hasExactSynonym "pilomatrixoma" +MONDO:0007564 oboInOwl:hasExactSynonym "pilomatricoma, somatic" MONDO:0007564 oboInOwl:hasExactSynonym "epithelioma calcificans of Malherbe" MONDO:0007564 oboInOwl:hasExactSynonym "pilomatrixoma, benign" MONDO:0007564 oboInOwl:hasExactSynonym "benign pilomatricoma" @@ -91638,6 +91718,7 @@ CHEBI:29214 oboInOwl:hasExactSynonym "sulfonic acid" MONDO:0019741 oboInOwl:hasExactSynonym "hereditary cystic kidney disease" MONDO:0008479 oboInOwl:hasExactSynonym "spondylometaphyseal dysplasia, Sutcliffe type" MONDO:0043975 oboInOwl:hasExactSynonym "autonomic dysreflexia" +MONDO:0009553 oboInOwl:hasExactSynonym "malaria, intensity of infection" MONDO:0009553 oboInOwl:hasExactSynonym "Plasmodium falciparum blood infection level" MONDO:0005489 oboInOwl:hasExactSynonym "dyslexia (disease)" MONDO:0005489 oboInOwl:hasExactSynonym "dyslexia" @@ -91659,9 +91740,6 @@ HP:0100806 oboInOwl:hasExactSynonym "Infection in blood stream" http://purl.obol PO:0004010 oboInOwl:hasExactSynonym "stem cell (exact)" PO:0004010 oboInOwl:hasExactSynonym "célula meristemática (Spanish, exact)" PO:0004010 oboInOwl:hasExactSynonym "分裂組織細胞 (Japanese, exact)" -MONDO:0015028 oboInOwl:hasExactSynonym "48, XXYY syndrome" -MONDO:0009083 oboInOwl:hasExactSynonym "Mengel-Konigsmark syndrome" -MONDO:0009083 oboInOwl:hasExactSynonym "conductive hearing loss-malformed external ear syndrome" MONDO:0021251 oboInOwl:hasExactSynonym "endometrial tumor" MONDO:0021251 oboInOwl:hasExactSynonym "tumor of endometrium" MONDO:0021251 oboInOwl:hasExactSynonym "neoplasm of endometrium" @@ -91670,6 +91748,9 @@ MONDO:0021251 oboInOwl:hasExactSynonym "endometrium neoplasm (disease)" MONDO:0021251 oboInOwl:hasExactSynonym "tumor of the endometrium" MONDO:0021251 oboInOwl:hasExactSynonym "endometrial neoplasm" MONDO:0021251 oboInOwl:hasExactSynonym "neoplasm of the endometrium" +MONDO:0015028 oboInOwl:hasExactSynonym "48, XXYY syndrome" +MONDO:0009083 oboInOwl:hasExactSynonym "Mengel-Konigsmark syndrome" +MONDO:0009083 oboInOwl:hasExactSynonym "conductive hearing loss-malformed external ear syndrome" MONDO:0000190 oboInOwl:hasExactSynonym "ventricular fibrillation (disease)" MONDO:0000190 oboInOwl:hasExactSynonym "fibrillation, ventricular" MONDO:0000190 oboInOwl:hasExactSynonym "VF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -91728,18 +91809,20 @@ MONDO:0021641 oboInOwl:hasExactSynonym "Bunyaviridae disease or disorder" MONDO:0021641 oboInOwl:hasExactSynonym "Bunyaviridae caused disease or disorder" MONDO:0021641 oboInOwl:hasExactSynonym "disease due to Bunyaviridae" MONDO:0021641 oboInOwl:hasExactSynonym "Bunyaviridae infectious disease" +MONDO:0005385 oboInOwl:hasExactSynonym "vasculature disease" +MONDO:0005385 oboInOwl:hasExactSynonym "vascular tissue disease" MONDO:0005385 oboInOwl:hasExactSynonym "vasculature disease or disorder" MONDO:0005385 oboInOwl:hasExactSynonym "disorder of vasculature" -MONDO:0005385 oboInOwl:hasExactSynonym "disease or disorder of vasculature" -MONDO:0005385 oboInOwl:hasExactSynonym "vasculature disease" MONDO:0005385 oboInOwl:hasExactSynonym "vascular disorder" MONDO:0005385 oboInOwl:hasExactSynonym "disease of vasculature" -MONDO:0005385 oboInOwl:hasExactSynonym "vascular tissue disease" +MONDO:0005385 oboInOwl:hasExactSynonym "disease or disorder of vasculature" MONDO:0016952 oboInOwl:hasExactSynonym "partial trisomy of the long arm of chromosome 1" MONDO:0016952 oboInOwl:hasExactSynonym "partial trisomy of chromosome 1q" MONDO:0016952 oboInOwl:hasExactSynonym "partial duplication of chromosome 1q" MONDO:0016952 oboInOwl:hasExactSynonym "partial duplication of the long arm of chromosome type 1" +MONDO:0010379 oboInOwl:hasExactSynonym "Brunner syndrome, X-linked recessive" MONDO:0010379 oboInOwl:hasExactSynonym "monoamine oxidase A deficiency" +MONDO:0010379 oboInOwl:hasExactSynonym "antisocial behavior, X-linked recessive" MONDO:0010379 oboInOwl:hasExactSynonym "Brunner syndrome" MONDO:0014195 oboInOwl:hasExactSynonym "microcornea-myopic chorioretinal atrophy-telecanthus syndrome" MONDO:0014195 oboInOwl:hasExactSynonym "microcornea-myopic chorioretinal atrophy" @@ -91769,6 +91852,7 @@ MONDO:0010615 oboInOwl:hasExactSynonym "X-linked agammaglobulinemia and isolated MONDO:0010615 oboInOwl:hasExactSynonym "X-linked hypogammaglobulinemia and isolated growth hormone deficiency" MONDO:0010615 oboInOwl:hasExactSynonym "Fleisher syndrome" MONDO:0010615 oboInOwl:hasExactSynonym "X-linked IGHD" +MONDO:0010615 oboInOwl:hasExactSynonym "isolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessive" MONDO:0010615 oboInOwl:hasExactSynonym "growth hormone deficiency with hypogammaglobulinemia" MONDO:0010615 oboInOwl:hasExactSynonym "IGHD III" MONDO:0010615 oboInOwl:hasExactSynonym "congenital isolated growth hormone deficiency type III" @@ -91830,10 +91914,10 @@ MONDO:0016775 oboInOwl:hasExactSynonym "LP pemphigoides" MONDO:0017417 oboInOwl:hasExactSynonym "Renohepaticopancreatic dysplasia" MONDO:0017417 oboInOwl:hasExactSynonym "Ivemark's syndrome" MONDO:0017417 oboInOwl:hasExactSynonym "Ivemark II syndrome" -MONDO:0002258 oboInOwl:hasExactSynonym "Sore throat" -MONDO:0002258 oboInOwl:hasExactSynonym "inflamed throat" MONDO:0002258 oboInOwl:hasExactSynonym "inflammation of throat" MONDO:0002258 oboInOwl:hasExactSynonym "throat inflammation" +MONDO:0002258 oboInOwl:hasExactSynonym "inflamed throat" +MONDO:0002258 oboInOwl:hasExactSynonym "Sore throat" MONDO:0024508 oboInOwl:hasExactSynonym "HWE1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024508 oboInOwl:hasExactSynonym "epilepsy, hot water, 1" CHEBI:38716 oboInOwl:hasExactSynonym "carboxylic acid dianion" @@ -91842,6 +91926,7 @@ MONDO:0003645 oboInOwl:hasExactSynonym "cavernous hemangioma of face" MONDO:0003645 oboInOwl:hasExactSynonym "face cavernous hemangioma" MONDO:0011491 oboInOwl:hasExactSynonym "epilepsy, idiopathic generalized, susceptibility to, 7" MONDO:0011491 oboInOwl:hasExactSynonym "EIG7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011491 oboInOwl:hasExactSynonym "epilepsy, juvenile myoclonic" GO:0016747 oboInOwl:hasExactSynonym "transferase activity, transferring acyl groups other than amino-acyl groups" MONDO:0008029 oboInOwl:hasExactSynonym "benign autosomal dominant myopathy" MONDO:0008029 oboInOwl:hasExactSynonym "Bethlem myopathy type 1" @@ -91890,6 +91975,7 @@ MONDO:0006904 oboInOwl:hasExactSynonym "tight foreskin" MONDO:0006904 oboInOwl:hasExactSynonym "tight frenulum" MONDO:0011609 oboInOwl:hasExactSynonym "ATOD6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011609 oboInOwl:hasExactSynonym "atopic dermatitis type 6" +MONDO:0011609 oboInOwl:hasExactSynonym "dermatitis, atopic, susceptibility to, 6" MONDO:0011100 oboInOwl:hasExactSynonym "microcephaly, retinitis pigmentosa, and sutural cataract" MONDO:0017262 oboInOwl:hasExactSynonym "nonsyndromic inherited ichthyosis" MONDO:0017262 oboInOwl:hasExactSynonym "isolated inherited ichthyosis" @@ -91908,6 +91994,7 @@ MONDO:0009376 oboInOwl:hasExactSynonym "carbamoyl phosphate synthetase I deficie MONDO:0009376 oboInOwl:hasExactSynonym "carbamoyl-phosphate synthetase deficiency" MONDO:0009376 oboInOwl:hasExactSynonym "CPS I deficiency" MONDO:0009376 oboInOwl:hasExactSynonym "carbamoyl phosphate synthetase deficiency" +MONDO:0009376 oboInOwl:hasExactSynonym "carbamoylphosphate synthetase I deficiency" MONDO:0009376 oboInOwl:hasExactSynonym "CPS1D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009376 oboInOwl:hasExactSynonym "CPS1 deficiency" MONDO:0002516 oboInOwl:hasExactSynonym "malignant gastrointestinal system neoplasm" @@ -91925,18 +92012,19 @@ MONDO:0012725 oboInOwl:hasExactSynonym "LPG" http://purl.obolibrary.org/obo/mond GO:0032230 oboInOwl:hasExactSynonym "up regulation of synaptic transmission, GABAergic" GO:0032230 oboInOwl:hasExactSynonym "up-regulation of synaptic transmission, GABAergic" GO:0032230 oboInOwl:hasExactSynonym "upregulation of synaptic transmission, GABAergic" +MONDO:0004946 oboInOwl:hasExactSynonym "low blood glucose" +MONDO:0004946 oboInOwl:hasExactSynonym "glucose, Low blood" +MONDO:0004946 oboInOwl:hasExactSynonym "blood glucose, Low" +MONDO:0004946 oboInOwl:hasExactSynonym "hypoglycaemia" MONDO:0011599 oboInOwl:hasExactSynonym "vitiliginous choroiditis" MONDO:0011599 oboInOwl:hasExactSynonym "birdshot chorioretinopathy" MONDO:0011599 oboInOwl:hasExactSynonym "BSCR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011599 oboInOwl:hasExactSynonym "birdshot retinochoroiditis" MONDO:0011599 oboInOwl:hasExactSynonym "birdshot retinochoroidopathy" MONDO:0011599 oboInOwl:hasExactSynonym "birdshot chorioretinitis" -MONDO:0004946 oboInOwl:hasExactSynonym "low blood glucose" -MONDO:0004946 oboInOwl:hasExactSynonym "glucose, Low blood" -MONDO:0004946 oboInOwl:hasExactSynonym "blood glucose, Low" -MONDO:0004946 oboInOwl:hasExactSynonym "hypoglycaemia" MONDO:0044323 oboInOwl:hasExactSynonym "Rahman syndrome" MONDO:0012502 oboInOwl:hasExactSynonym "normophosphatemic familial tumoral calcinosis" +MONDO:0012502 oboInOwl:hasExactSynonym "tumoral calcinosis, familial, normophosphatemic" MONDO:0016250 oboInOwl:hasExactSynonym "rare breast adenocarcinoma" MONDO:0009584 oboInOwl:hasExactSynonym "Mutchinick syndrome" MONDO:0005164 oboInOwl:hasExactSynonym "fibrosarcoma (disease)" @@ -91974,6 +92062,7 @@ MONDO:0005550 oboInOwl:hasExactSynonym "infectious disorder" MONDO:0005550 oboInOwl:hasExactSynonym "infectious diseases and manifestations" MONDO:0005550 oboInOwl:hasExactSynonym "transmissible disease" MONDO:0014056 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, susceptibility to, 9" +MONDO:0014056 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, 9" MONDO:0014056 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, susceptibility to, type 9" MONDO:0010544 oboInOwl:hasExactSynonym "NHS early-onset non-syndromic cataract" MONDO:0010544 oboInOwl:hasExactSynonym "cataract 40 X-linked" @@ -91983,6 +92072,7 @@ MONDO:0010544 oboInOwl:hasExactSynonym "CTRCT40" http://purl.obolibrary.org/obo/ MONDO:0010544 oboInOwl:hasExactSynonym "early-onset non-syndromic cataract caused by mutation in NHS" MONDO:0010544 oboInOwl:hasExactSynonym "cataract 40 with or without microcornea" MONDO:0010720 oboInOwl:hasExactSynonym "Reifenstein syndrome, partial" +MONDO:0010720 oboInOwl:hasExactSynonym "androgen insensitivity, partial, with or without breast cancer, X-linked recessive" MONDO:0010720 oboInOwl:hasExactSynonym "androgen insensitivity, partial" MONDO:0010720 oboInOwl:hasExactSynonym "familial incomplete Male pseudohermaphroditism, type 1" MONDO:0010720 oboInOwl:hasExactSynonym "partial androgen resistance syndrome" @@ -92029,6 +92119,7 @@ MONDO:0013297 oboInOwl:hasExactSynonym "muscular dystrophy limb-girdle type 1H" MONDO:0013297 oboInOwl:hasExactSynonym "LGMD1H" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011985 oboInOwl:hasExactSynonym "hyper-IgM syndrome type 4" MONDO:0011985 oboInOwl:hasExactSynonym "HIGM4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012931 oboInOwl:hasExactSynonym "glomerulosclerosis, focal segmental, 4, susceptibility to" MONDO:0012931 oboInOwl:hasExactSynonym "APOL1 focal segmental glomerulosclerosis" MONDO:0012931 oboInOwl:hasExactSynonym "focal segmental glomerulosclerosis 4, susceptibility to" MONDO:0012931 oboInOwl:hasExactSynonym "focal segmental glomerulosclerosis caused by mutation in APOL1" @@ -92061,6 +92152,7 @@ MONDO:0100000 oboInOwl:hasExactSynonym "X-linked syndromic intellectual disabili MONDO:0100000 oboInOwl:hasExactSynonym "MED12-related intellectual disability syndrome" MONDO:0100000 oboInOwl:hasExactSynonym "MED12 X-linked syndromic intellectual disability" MONDO:0012893 oboInOwl:hasExactSynonym "osteoarthritis susceptibility 5" +MONDO:0012893 oboInOwl:hasExactSynonym "osteoarthritis-5" MONDO:0012893 oboInOwl:hasExactSynonym "osteoarthritis caused by mutation in GDF5" MONDO:0012893 oboInOwl:hasExactSynonym "GDF5 osteoarthritis" MONDO:0012893 oboInOwl:hasExactSynonym "osteoarthritis susceptibility type 5" @@ -92118,9 +92210,9 @@ MONDO:0002518 oboInOwl:hasExactSynonym "gall bladder papillary epithelial neopla MONDO:0002518 oboInOwl:hasExactSynonym "gallbladder papillary neoplasm" MONDO:0002518 oboInOwl:hasExactSynonym "gallbladder papillomatosis" MONDO:0002518 oboInOwl:hasExactSynonym "intracystic papillary neoplasm" -GO:1901661 oboInOwl:hasExactSynonym "quinone metabolism" MONDO:0017470 oboInOwl:hasExactSynonym "congenital knee dislocation (disease)" MONDO:0017470 oboInOwl:hasExactSynonym "congenital knee dislocation" +GO:1901661 oboInOwl:hasExactSynonym "quinone metabolism" MONDO:0014245 oboInOwl:hasExactSynonym "RPL15 Diamond-Blackfan anemia" MONDO:0014245 oboInOwl:hasExactSynonym "Diamond-Blackfan anemia caused by mutation in RPL15" MONDO:0014245 oboInOwl:hasExactSynonym "Diamond-Blackfan anemia 12" @@ -92144,6 +92236,7 @@ MONDO:0004948 oboInOwl:hasExactSynonym "CLL" http://purl.obolibrary.org/obo/mond MONDO:0004948 oboInOwl:hasExactSynonym "B-cell CLL" MONDO:0004948 oboInOwl:hasExactSynonym "chronic B-cell lymphocytic leukemia" MONDO:0004948 oboInOwl:hasExactSynonym "lymphoplasmacytic leukemia" +MONDO:0013475 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 18" MONDO:0013475 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, type 18" MONDO:0013475 oboInOwl:hasExactSynonym "cardiomyopathy familial hypertrophic 18" MONDO:0013475 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 18" @@ -92184,6 +92277,7 @@ MONDO:0011764 oboInOwl:hasExactSynonym "Parkinson disease caused by mutation in MONDO:0011764 oboInOwl:hasExactSynonym "autosomal dominant Parkinson disease 8" MONDO:0011764 oboInOwl:hasExactSynonym "LRRK2 Parkinson disease" MONDO:0011764 oboInOwl:hasExactSynonym "autosomal dominant Parkinson disease type 8" +MONDO:0011764 oboInOwl:hasExactSynonym "Parkinson disease 8" MONDO:0020067 oboInOwl:hasExactSynonym "encephalitis infection" MONDO:0009092 oboInOwl:hasExactSynonym "Nasu-Hakola disease" MONDO:0009092 oboInOwl:hasExactSynonym "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease" @@ -92226,6 +92320,8 @@ MONDO:0021056 oboInOwl:hasExactSynonym "attenuated familial adenomatous polyposi MONDO:0021056 oboInOwl:hasExactSynonym "FAP1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0021056 oboInOwl:hasExactSynonym "familial adenomatous polyposis 1" MONDO:0021056 oboInOwl:hasExactSynonym "APC attenuated familial adenomatous polyposis" +MONDO:0021056 oboInOwl:hasExactSynonym "adenomatous polyposis coli" +MONDO:0021056 oboInOwl:hasExactSynonym "adenoma, periampullary, somatic" MONDO:0024279 oboInOwl:hasExactSynonym "chronic endometritis" MONDO:0024279 oboInOwl:hasExactSynonym "endometritis, chronic" MONDO:0020382 oboInOwl:hasExactSynonym "multifocal pattern dystrophy simulating Stargardt disease" @@ -92344,6 +92440,7 @@ MONDO:0008449 oboInOwl:hasExactSynonym "rachischisis" MONDO:0008449 oboInOwl:hasExactSynonym "spina bifida (disease)" MONDO:0008449 oboInOwl:hasExactSynonym "spina bifida" MONDO:0007573 oboInOwl:hasExactSynonym "hereditary acute erythroid leukemia" +MONDO:0007573 oboInOwl:hasExactSynonym "erythroleukemia, familial, susceptibility to" MONDO:0018514 oboInOwl:hasExactSynonym "rare epithelial neoplasm of rectum" MONDO:0018514 oboInOwl:hasExactSynonym "rare rectal epithelial tumor" MONDO:0000502 oboInOwl:hasExactSynonym "villous adenoma" @@ -92351,6 +92448,7 @@ MONDO:0017409 oboInOwl:hasExactSynonym "antenatal CMV infection" MONDO:0017409 oboInOwl:hasExactSynonym "antenatal cytomegalovirus infection" MONDO:0017409 oboInOwl:hasExactSynonym "mother-to-child transmission of cytomegalovirus syndrome" MONDO:0017409 oboInOwl:hasExactSynonym "congenital Cytomegaloviral infection" +MONDO:0014000 oboInOwl:hasExactSynonym "congenital heart defects, nonsyndromic, 2" MONDO:0014000 oboInOwl:hasExactSynonym "congenital heart defects, multiple types, 2" MONDO:0014000 oboInOwl:hasExactSynonym "congenital heart malformation caused by mutation in TAB2" MONDO:0014000 oboInOwl:hasExactSynonym "TAB2 congenital heart malformation" @@ -92358,9 +92456,9 @@ MONDO:0010972 oboInOwl:hasExactSynonym "Waaler-Aarskog syndrome" MONDO:0010972 oboInOwl:hasExactSynonym "Ferlini-Ragno-Calzolari syndrome" HP:0011121 oboInOwl:hasExactSynonym "Abnormal skin structure" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0011121 oboInOwl:hasExactSynonym "Abnormal skin morphology" -MONDO:0017776 oboInOwl:hasExactSynonym "Nocardia caused disease or disorder" -MONDO:0017776 oboInOwl:hasExactSynonym "Nocardia disease or disorder" MONDO:0017776 oboInOwl:hasExactSynonym "Nocardia infectious disease" +MONDO:0017776 oboInOwl:hasExactSynonym "Nocardia disease or disorder" +MONDO:0017776 oboInOwl:hasExactSynonym "Nocardia caused disease or disorder" MONDO:0013683 oboInOwl:hasExactSynonym "vesicoureteral reflux 5" MONDO:0013683 oboInOwl:hasExactSynonym "VUR5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013336 oboInOwl:hasExactSynonym "Del(19)(p13.13)" @@ -92388,6 +92486,7 @@ MONDO:0011569 oboInOwl:hasExactSynonym "LMNA Charcot-Marie-Tooth disease type 2" MONDO:0011569 oboInOwl:hasExactSynonym "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1" MONDO:0011569 oboInOwl:hasExactSynonym "autosomal recessive axonal CMT4C1" MONDO:0011569 oboInOwl:hasExactSynonym "CMT2B1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011569 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 2B1" MONDO:0011569 oboInOwl:hasExactSynonym "AR-CMT2B1" MONDO:0011569 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease neuronal type 2B1" MONDO:0011569 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2B1" @@ -92427,6 +92526,7 @@ MONDO:0009439 oboInOwl:hasExactSynonym "ARCI2" http://purl.obolibrary.org/obo/mo HP:0100957 oboInOwl:hasExactSynonym "Abnormality of the renal medulla" MONDO:0020759 oboInOwl:hasExactSynonym "ECA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020759 oboInOwl:hasExactSynonym "epilepsy, childhood absence, susceptibility to, 1" +MONDO:0020759 oboInOwl:hasExactSynonym "epilepsy, childhood absence, 1" HP:0003496 oboInOwl:hasExactSynonym "Increased IgM levels" HP:0003496 oboInOwl:hasExactSynonym "Increased levels of IgM" MONDO:0015981 oboInOwl:hasExactSynonym "rare genetic female reproductive system tumor" @@ -92439,6 +92539,8 @@ MONDO:0009775 oboInOwl:hasExactSynonym "Oguchi disease type 1" MONDO:0018766 oboInOwl:hasExactSynonym "CEAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009951 oboInOwl:hasExactSynonym "Radiculoneuropathy, fatal neonatal" MONDO:0008560 oboInOwl:hasExactSynonym "thrombophilia due to activated protein C resistance" +MONDO:0008560 oboInOwl:hasExactSynonym "thrombophilia 2 due to activated protein C resistance" +MONDO:0008560 oboInOwl:hasExactSynonym "thrombophilia, susceptibility to, due to factor V Leiden" MONDO:0013115 oboInOwl:hasExactSynonym "RIN2 deficiency" MONDO:0013115 oboInOwl:hasExactSynonym "macrocephaly-alopecia-cutis laxa-scoliosis syndrome" MONDO:0013115 oboInOwl:hasExactSynonym "tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome" @@ -92454,9 +92556,9 @@ MONDO:0004140 oboInOwl:hasExactSynonym "malignant teratoma, intermediate (morpho MONDO:0004140 oboInOwl:hasExactSynonym "malignant teratoma, intermediate" MONDO:0007363 oboInOwl:hasExactSynonym "CCA syndrome" MONDO:0007363 oboInOwl:hasExactSynonym "Beals-Hecht syndrome" -MONDO:0007363 oboInOwl:hasExactSynonym "distal arthrogryposis type 9" MONDO:0007363 oboInOwl:hasExactSynonym "CCA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007363 oboInOwl:hasExactSynonym "Beals syndrome" +MONDO:0007363 oboInOwl:hasExactSynonym "distal arthrogryposis type 9" MONDO:0010740 oboInOwl:hasExactSynonym "taurodontism, microdontia, and dens invaginatus" MONDO:0006340 oboInOwl:hasExactSynonym "ovary serous adenofibroma" MONDO:0006340 oboInOwl:hasExactSynonym "serous adenofibroma of ovary" @@ -92595,8 +92697,10 @@ MONDO:0016587 oboInOwl:hasExactSynonym "arrhythmogenic right ventricular cardiom MONDO:0016587 oboInOwl:hasExactSynonym "ARVD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016587 oboInOwl:hasExactSynonym "ARVC cardiomyopathy" MONDO:0016587 oboInOwl:hasExactSynonym "arrhythmogenic right ventricular dysplasia" +MONDO:0100487 oboInOwl:hasExactSynonym "TPM4-related platelet dysfunction with or without thrombocytopenia" CHEBI:16150 oboInOwl:hasExactSynonym "benzoate" ECTO:9001630 oboInOwl:hasExactSynonym "exposure to endocrine disruptor" +MONDO:0011805 oboInOwl:hasExactSynonym "asthma, susceptibility to, 1" MONDO:0011805 oboInOwl:hasExactSynonym "inherited susceptibility to asthma caused by mutation in PTGDR" MONDO:0011805 oboInOwl:hasExactSynonym "asthma-related traits, susceptibility to, type 1" MONDO:0011805 oboInOwl:hasExactSynonym "asthma-related traits, susceptibility to, 1" @@ -92698,6 +92802,7 @@ MONDO:0019137 oboInOwl:hasExactSynonym "non-24" MONDO:0019137 oboInOwl:hasExactSynonym "circadian rhythm sleep disorder, free running type" MONDO:0009142 oboInOwl:hasExactSynonym "dystonia with Ringbinden" MONDO:0008762 oboInOwl:hasExactSynonym "Alport syndrome, autosomal recessive" +MONDO:0008762 oboInOwl:hasExactSynonym "Alport syndrome 2, autosomal recessive" MONDO:0002877 oboInOwl:hasExactSynonym "malignant Mullerian mixed tumor of the cervix uteri" MONDO:0002877 oboInOwl:hasExactSynonym "cervical malignant mixed mesodermal mullerian tumor" MONDO:0002877 oboInOwl:hasExactSynonym "cervical mixed epithelial and mesenchymal neoplasm" @@ -92831,6 +92936,7 @@ MONDO:0018881 oboInOwl:hasExactSynonym "dysmyelopoietic syndrome" MONDO:0018881 oboInOwl:hasExactSynonym "myelodysplasia" MONDO:0018881 oboInOwl:hasExactSynonym "hematopoeitic - myelodysplastic syndrome (MDS)" MONDO:0018881 oboInOwl:hasExactSynonym "myelodysplastic syndrome" +MONDO:0018881 oboInOwl:hasExactSynonym "myelodysplastic syndrome, somatic" GO:0006541 oboInOwl:hasExactSynonym "glutamine metabolism" MONDO:0014441 oboInOwl:hasExactSynonym "Bardet-Biedl syndrome type 13" MONDO:0014441 oboInOwl:hasExactSynonym "BBS13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -92865,10 +92971,13 @@ MONDO:0002656 oboInOwl:hasExactSynonym "non-melanoma skin cancer" MONDO:0002656 oboInOwl:hasExactSynonym "skin cancer, non-melanoma" MONDO:0002656 oboInOwl:hasExactSynonym "nonmelanoma skin cancer" MONDO:0009448 oboInOwl:hasExactSynonym "iminoglycinuria" +MONDO:0009448 oboInOwl:hasExactSynonym "iminoglycinuria, digenic" HP:0002912 oboInOwl:hasExactSynonym "Elevated circulating methylmalonic acid concentration" MONDO:0014057 oboInOwl:hasExactSynonym "maple syrup urine disease, mild variant" MONDO:0011101 oboInOwl:hasExactSynonym "peroxisome biogenesis disorder type 1B" MONDO:0011101 oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 1B" +MONDO:0011101 oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 1B (NALD/IRD)" +MONDO:0010545 oboInOwl:hasExactSynonym "nance-horan syndrome, X-linked dominant" MONDO:0010545 oboInOwl:hasExactSynonym "Nance-Horan syndrome" MONDO:0010721 oboInOwl:hasExactSynonym "reticuloendotheliosis, X-linked" GO:1903315 oboInOwl:hasExactSynonym "down regulation of nitrogen cycle metabolic process" @@ -92881,10 +92990,10 @@ MONDO:0021527 oboInOwl:hasExactSynonym "benign meninges neoplasm" MONDO:0021527 oboInOwl:hasExactSynonym "benign neoplasm of the meninges" MONDO:0021527 oboInOwl:hasExactSynonym "benign meningeal tumors" MONDO:0021527 oboInOwl:hasExactSynonym "meningeal cluster benign neoplasm" -MONDO:0021527 oboInOwl:hasExactSynonym "benign tumor of the meninges" MONDO:0021527 oboInOwl:hasExactSynonym "meningeal tumors, benign" -MONDO:0021527 oboInOwl:hasExactSynonym "benign meningeal neoplasms" +MONDO:0021527 oboInOwl:hasExactSynonym "benign tumor of the meninges" MONDO:0021527 oboInOwl:hasExactSynonym "benign meninges tumor" +MONDO:0021527 oboInOwl:hasExactSynonym "benign meningeal neoplasms" MONDO:0021527 oboInOwl:hasExactSynonym "benign tumor of meninges" MONDO:0021527 oboInOwl:hasExactSynonym "benign neoplasms of meninges" MONDO:0009377 oboInOwl:hasExactSynonym "hyperammonemia due to N-acetylglutamate synthase deficiency" @@ -92911,13 +93020,16 @@ MONDO:0013298 oboInOwl:hasExactSynonym "dup(17)(q21.31)" MONDO:0013298 oboInOwl:hasExactSynonym "chromosome 17q21.31 duplication syndrome" MONDO:0011986 oboInOwl:hasExactSynonym "tropical calcific chronic pancreatitis" MONDO:0011986 oboInOwl:hasExactSynonym "TCP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011986 oboInOwl:hasExactSynonym "fibrocalculous pancreatic diabetes, susceptibility to" MONDO:0012932 oboInOwl:hasExactSynonym "MYP16" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012932 oboInOwl:hasExactSynonym "myopia 16, autosomal dominant" +MONDO:0012932 oboInOwl:hasExactSynonym "myopia 16" MONDO:0008365 oboInOwl:hasExactSynonym "Rec8 syndrome" MONDO:0008365 oboInOwl:hasExactSynonym "Rec(8) syndrome" MONDO:0008365 oboInOwl:hasExactSynonym "Recombinant chromosome 8 syndrome" MONDO:0008365 oboInOwl:hasExactSynonym "San Luis Valley syndrome" MONDO:0008365 oboInOwl:hasExactSynonym "Duplication 8q/deletion 8p" +MONDO:0007751 oboInOwl:hasExactSynonym "hypercholesterolemia, familial, 2" MONDO:0007751 oboInOwl:hasExactSynonym "hypercholesterolemia, autosomal dominant, type B" MONDO:0013306 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency caused by mutation in C12orf65" MONDO:0013306 oboInOwl:hasExactSynonym "COXPD7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -92957,6 +93069,7 @@ MONDO:0012251 oboInOwl:hasExactSynonym "mental retardation, enteropathy, deafnes MONDO:0012251 oboInOwl:hasExactSynonym "erythrokeratodermia variabilis 3" MONDO:0012251 oboInOwl:hasExactSynonym "erythrokeratodermia variabilis, Kamouraska type" MONDO:0012251 oboInOwl:hasExactSynonym "intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia" +MONDO:0014747 oboInOwl:hasExactSynonym "retinal dystrophy and iris coloboma with or without cataract" MONDO:0001467 oboInOwl:hasExactSynonym "specific bursitides often of occupational origin" MONDO:0015218 oboInOwl:hasExactSynonym "syndrome associated with developmental defect of the eye" MONDO:0015218 oboInOwl:hasExactSynonym "syndromic developmental defect of the eye" @@ -92965,6 +93078,7 @@ MONDO:0017418 oboInOwl:hasExactSynonym "CIF" http://purl.obolibrary.org/obo/mond MONDO:0013653 oboInOwl:hasExactSynonym "hereditary late onset Parkinson disease caused by mutation in EIF4G1" MONDO:0013653 oboInOwl:hasExactSynonym "Parkinson disease 18, autosomal dominant, susceptibility to" MONDO:0013653 oboInOwl:hasExactSynonym "EIF4G1 hereditary late onset Parkinson disease" +MONDO:0013653 oboInOwl:hasExactSynonym "Parkinson disease 18" MONDO:0003646 oboInOwl:hasExactSynonym "neuroendocrine neoplasm of the rectum" MONDO:0003646 oboInOwl:hasExactSynonym "neuroendocrine tumor of rectum" MONDO:0003646 oboInOwl:hasExactSynonym "NET of the rectum" @@ -93015,6 +93129,7 @@ MONDO:0030700 oboInOwl:hasExactSynonym "autoimmune glomerulonephritis (disease)" MONDO:0010480 oboInOwl:hasExactSynonym "severe hemolytic anemia due to G6PD deficiency" MONDO:0010480 oboInOwl:hasExactSynonym "Class I G6PD deficiency" MONDO:0010480 oboInOwl:hasExactSynonym "class I glucose-6-phosphate dehydrogenase deficiency" +MONDO:0010480 oboInOwl:hasExactSynonym "hemolytic anemia, G6PD deficient (favism), X-linked dominant" MONDO:0010480 oboInOwl:hasExactSynonym "hemolytic anemia due to G6PD deficiency" MONDO:0010480 oboInOwl:hasExactSynonym "anemia, nonspherocytic hemolytic, due to G6PD deficiency" MONDO:0016030 oboInOwl:hasExactSynonym "immune pancytopenia" @@ -93031,6 +93146,7 @@ MONDO:0005708 oboInOwl:hasExactSynonym "Colorado tick encephalitis" MONDO:0005708 oboInOwl:hasExactSynonym "Mountain fever" MONDO:0005708 oboInOwl:hasExactSynonym "Tick fever, American mountain" CL:0000319 oboInOwl:hasExactSynonym "mucous cell" +MONDO:0010547 oboInOwl:hasExactSynonym "spinocerebellar ataxia, X-linked 1, X-linked recessive" MONDO:0010547 oboInOwl:hasExactSynonym "spinocerebellar ataxia, X-linked type 1" MONDO:0017263 oboInOwl:hasExactSynonym "syndrome associated with inherited ichthyosis" MONDO:0017263 oboInOwl:hasExactSynonym "syndromic inherited ichthyosis" @@ -93044,6 +93160,7 @@ MONDO:0009617 oboInOwl:hasExactSynonym "MCPH1 autosomal recessive primary microc MONDO:0009617 oboInOwl:hasExactSynonym "autosomal recessive primary microcephaly caused by mutation in MCPH1" MONDO:0009617 oboInOwl:hasExactSynonym "microcephaly 1, primary, autosomal recessive" MONDO:0010324 oboInOwl:hasExactSynonym "MRX81" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010324 oboInOwl:hasExactSynonym "mental retardation, X-linked 81, X-linked recessive" MONDO:0010324 oboInOwl:hasExactSynonym "intellectual disability, X-linked 81" MONDO:0011882 oboInOwl:hasExactSynonym "skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome" GO:0051928 oboInOwl:hasExactSynonym "positive regulation of calcium transport" @@ -93059,11 +93176,13 @@ MONDO:0004949 oboInOwl:hasExactSynonym "mature B-cell neoplasm" MONDO:0021057 oboInOwl:hasExactSynonym "classic or attenuated familial adenomatous polyposis" MONDO:0021057 oboInOwl:hasExactSynonym "classic or attenuated FAP" MONDO:0016251 oboInOwl:hasExactSynonym "salivary gland type carcinoma of the breast" +MONDO:0011988 oboInOwl:hasExactSynonym "immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis" MONDO:0011988 oboInOwl:hasExactSynonym "neutrophil immunodeficiency syndrome" MONDO:0017334 oboInOwl:hasExactSynonym "monosomy 12q15q21.1" MONDO:0017334 oboInOwl:hasExactSynonym "deletion 12q15q21.1" MONDO:0017334 oboInOwl:hasExactSynonym "Del(12)(q15)(q21.1)" MONDO:0008215 oboInOwl:hasExactSynonym "autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease" +MONDO:0008215 oboInOwl:hasExactSynonym "leukodystrophy, adult-onset, autosomal dominant" MONDO:0008215 oboInOwl:hasExactSynonym "ADLD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008215 oboInOwl:hasExactSynonym "adult-onset autosomal dominant demyelinating leukodystrophy" MONDO:0008215 oboInOwl:hasExactSynonym "adult-onset autosomal dominant leukodystrophy" @@ -93077,9 +93196,9 @@ MONDO:0011765 oboInOwl:hasExactSynonym "Polyepiphyseal dysplasia type 5" MONDO:0011765 oboInOwl:hasExactSynonym "MED5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011765 oboInOwl:hasExactSynonym "MATN3 multiple epiphyseal dysplasia (disease)" MONDO:0011765 oboInOwl:hasExactSynonym "BHMED" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011765 oboInOwl:hasExactSynonym "multiple epiphyseal dysplasia (disease) caused by mutation in MATN3" MONDO:0011765 oboInOwl:hasExactSynonym "bilateral hereditary micro-epiphyseal dysplasia" MONDO:0011765 oboInOwl:hasExactSynonym "EDM5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011765 oboInOwl:hasExactSynonym "multiple epiphyseal dysplasia (disease) caused by mutation in MATN3" MONDO:0011765 oboInOwl:hasExactSynonym "epiphyseal dysplasia, multiple, type 5" GO:1902742 oboInOwl:hasExactSynonym "apoptotic process involved in anatomical structure development" GO:1902742 oboInOwl:hasExactSynonym "programmed cell death by apoptosis involved in development of an anatomical structure" @@ -93139,6 +93258,7 @@ MONDO:0001939 oboInOwl:hasExactSynonym "angiolymphoid hyperplasia of skin" MONDO:0001939 oboInOwl:hasExactSynonym "histiocytoid hemangioma of skin" MONDO:0001939 oboInOwl:hasExactSynonym "epithelioid hemangioma of skin" MONDO:0001939 oboInOwl:hasExactSynonym "histiocytoid hemangioma of zone of skin" +MONDO:0014643 oboInOwl:hasExactSynonym "Basel-Vanagait-Smirin-Yosef syndrome" CL:0010002 oboInOwl:hasExactSynonym "umbilical artery epithelial cell" GO:0009107 oboInOwl:hasExactSynonym "lipoate biosynthesis" GO:0009107 oboInOwl:hasExactSynonym "lipoic acid synthesis" @@ -93231,6 +93351,7 @@ MONDO:0007574 oboInOwl:hasExactSynonym "erythrokeratodermia with ataxia" MONDO:0007574 oboInOwl:hasExactSynonym "spinocerebellar ataxia type 34" MONDO:0008905 oboInOwl:hasExactSynonym "candidiasis, familial, type 2" MONDO:0008905 oboInOwl:hasExactSynonym "invasive candidiasis-deep dermatophytosis syndrome" +MONDO:0008905 oboInOwl:hasExactSynonym "candidiasis, familial, 2, autosomal recessive" MONDO:0012568 oboInOwl:hasExactSynonym "osteoarthritis susceptibility 4" MONDO:0012568 oboInOwl:hasExactSynonym "OS4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011314 oboInOwl:hasExactSynonym "Graves disease, susceptibility to, type 2" @@ -93283,17 +93404,19 @@ MONDO:0005004 oboInOwl:hasExactSynonym "mesonephroid clear cell adenocarcinoma" MONDO:0013172 oboInOwl:hasExactSynonym "polymicrogyria with optic nerve hypoplasia" GO:0045819 oboInOwl:hasExactSynonym "positive regulation of glycogenolysis" GO:0045819 oboInOwl:hasExactSynonym "positive regulation of glycogen breakdown" -GO:0045819 oboInOwl:hasExactSynonym "positive regulation of glycogen catabolism" GO:0045819 oboInOwl:hasExactSynonym "up regulation of glycogen catabolic process" +GO:0045819 oboInOwl:hasExactSynonym "positive regulation of glycogen catabolism" GO:0045819 oboInOwl:hasExactSynonym "upregulation of glycogen catabolic process" GO:0045819 oboInOwl:hasExactSynonym "up-regulation of glycogen catabolic process" GO:0045819 oboInOwl:hasExactSynonym "positive regulation of glycogen degradation" +MONDO:0012067 oboInOwl:hasExactSynonym "asthma, susceptibility to, 2" MONDO:0012067 oboInOwl:hasExactSynonym "NPSR1 inherited susceptibility to asthma" MONDO:0012067 oboInOwl:hasExactSynonym "asthma-related traits, susceptibility to, type 2" MONDO:0012067 oboInOwl:hasExactSynonym "asthma-related traits, susceptibility to, 2" MONDO:0012067 oboInOwl:hasExactSynonym "inherited susceptibility to asthma caused by mutation in NPSR1" MONDO:0011297 oboInOwl:hasExactSynonym "autosomal dominant nocturnal frontal lobe epilepsy type 2" MONDO:0011297 oboInOwl:hasExactSynonym "nocturnal frontal lobe epilepsy 2" +MONDO:0011297 oboInOwl:hasExactSynonym "epilepsy, nocturnal frontal lobe, type 2" MONDO:0011297 oboInOwl:hasExactSynonym "ENFL2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012243 oboInOwl:hasExactSynonym "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations" MONDO:0006491 oboInOwl:hasExactSynonym "vulvar lichen sclerosus" @@ -93346,6 +93469,7 @@ MONDO:0014001 oboInOwl:hasExactSynonym "USH1K" http://purl.obolibrary.org/obo/mo MONDO:0014001 oboInOwl:hasExactSynonym "Usher syndrome type IK" MONDO:0032710 oboInOwl:hasExactSynonym "DEE72" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032710 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 72" +MONDO:0032710 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 72" MONDO:0032710 oboInOwl:hasExactSynonym "EIEE72" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032710 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72" HP:0011122 oboInOwl:hasExactSynonym "Abnormality of skin physiology" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -93430,9 +93554,10 @@ MONDO:0004611 oboInOwl:hasExactSynonym "malignant soft palate neoplasm" GO:0031348 oboInOwl:hasExactSynonym "down regulation of defense response" GO:0031348 oboInOwl:hasExactSynonym "down-regulation of defense response" GO:0031348 oboInOwl:hasExactSynonym "downregulation of defense response" +MONDO:0007743 oboInOwl:hasExactSynonym "attention deficit/hyperactivity disorder" +MONDO:0007743 oboInOwl:hasExactSynonym "attention deficit-hyperactivity disorder, susceptibility to" MONDO:0007743 oboInOwl:hasExactSynonym "attention deficit-hyperactivity disorder" MONDO:0007743 oboInOwl:hasExactSynonym "attention deficit hyperactivity disorder" -MONDO:0007743 oboInOwl:hasExactSynonym "attention deficit/hyperactivity disorder" MONDO:0010576 oboInOwl:hasExactSynonym "X-linked mixed conductive and neurosensory hearing loss" MONDO:0010576 oboInOwl:hasExactSynonym "X-linked stapes gusher syndrome" MONDO:0010576 oboInOwl:hasExactSynonym "X-linked mixed conductive and sensorineural hearing loss" @@ -93442,6 +93567,7 @@ MONDO:0014392 oboInOwl:hasExactSynonym "DEE25" http://purl.obolibrary.org/obo/mo MONDO:0014392 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 25" MONDO:0014392 oboInOwl:hasExactSynonym "EIEE25" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014392 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy 25" +MONDO:0014392 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 25, with amelogenesis imperfecta" MONDO:0014392 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in SLC13A5" MONDO:0014392 oboInOwl:hasExactSynonym "SLC13A5 early infantile epileptic encephalopathy" MONDO:0014392 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy, 25" @@ -93470,6 +93596,7 @@ MONDO:0004141 oboInOwl:hasExactSynonym "melanomatosis" GO:0016874 oboInOwl:hasExactSynonym "synthetase activity" MONDO:0007364 oboInOwl:hasExactSynonym "arthrogryposis, distal, type 2E" MONDO:0006984 oboInOwl:hasExactSynonym "subdural abscess" +MONDO:0008771 oboInOwl:hasExactSynonym "amelogenesis imperfecta, type IG (enamel-renal syndrome)" MONDO:0008771 oboInOwl:hasExactSynonym "amelogenesis imperfecta-gingival hyperplasia syndrome" MONDO:0008771 oboInOwl:hasExactSynonym "amelogenesis imperfecta and gingival fibromatosis syndrome" MONDO:0008771 oboInOwl:hasExactSynonym "FAM20A amelogenesis imperfecta" @@ -93485,7 +93612,9 @@ MONDO:0011180 oboInOwl:hasExactSynonym "broad terminal phalanges, familial" MONDO:0024341 oboInOwl:hasExactSynonym "retinal neural cell neoplasm" MONDO:0024341 oboInOwl:hasExactSynonym "retinal cell tumor" MONDO:0024341 oboInOwl:hasExactSynonym "retinal cell neoplasm" +MONDO:0011158 oboInOwl:hasExactSynonym "autoimmune lymphoproliferative syndrome, type IB" MONDO:0011158 oboInOwl:hasExactSynonym "autoimmune lymphoproliferative syndrome type 1" +MONDO:0011158 oboInOwl:hasExactSynonym "autoimmune lymphoproliferative syndrome, type IA" MONDO:0005582 oboInOwl:hasExactSynonym "binge eating" MONDO:0005582 oboInOwl:hasExactSynonym "binge eating disorder" MONDO:0013337 oboInOwl:hasExactSynonym "HSAN1C" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -93493,6 +93622,8 @@ MONDO:0013337 oboInOwl:hasExactSynonym "hereditary sensory and autonomic neuropa NCBITaxon:5234 oboInOwl:hasExactSynonym "jelly fungi" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name NCBITaxon:8457 oboInOwl:hasExactSynonym "sauropsids" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name MONDO:0008270 oboInOwl:hasExactSynonym "PPD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008270 oboInOwl:hasExactSynonym "polydactyly, preaxial type II" +MONDO:0008270 oboInOwl:hasExactSynonym "triphalangeal thumb, type i" MONDO:0008270 oboInOwl:hasExactSynonym "polydactyly, preaxial type 2" MONDO:0008270 oboInOwl:hasExactSynonym "preaxial polydactyly type 2" MONDO:0007073 oboInOwl:hasExactSynonym "Jussieu syndrome" @@ -93606,12 +93737,13 @@ MONDO:0019964 oboInOwl:hasExactSynonym "thymus neuroendocrine tumor" MONDO:0019964 oboInOwl:hasExactSynonym "thymus neuroendocrine tumor, well differentiated, low or intermediate grade" MONDO:0009776 oboInOwl:hasExactSynonym "spermatogenic failure 1" MONDO:0009776 oboInOwl:hasExactSynonym "SPGF1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0018767 oboInOwl:hasExactSynonym "trimethylaminuria" MONDO:0009952 oboInOwl:hasExactSynonym "Der Kaloustian-McIntosh-Silver syndrome" MONDO:0009952 oboInOwl:hasExactSynonym "radioulnar synostosis with developmental delay and hypotonia syndrome" MONDO:0018079 oboInOwl:hasExactSynonym "TEN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018079 oboInOwl:hasExactSynonym "epithelial neoplasm of the Thymus" -MONDO:0018079 oboInOwl:hasExactSynonym "epithelial tumor of the Thymus" MONDO:0018079 oboInOwl:hasExactSynonym "Thymus epithelial tumor" +MONDO:0018079 oboInOwl:hasExactSynonym "epithelial tumor of the Thymus" MONDO:0018079 oboInOwl:hasExactSynonym "epithelial neoplasm of Thymus" MONDO:0018079 oboInOwl:hasExactSynonym "thymic epithelium neoplasm" MONDO:0018079 oboInOwl:hasExactSynonym "Thymus epithelial neoplasm" @@ -93630,6 +93762,7 @@ MONDO:0010741 oboInOwl:hasExactSynonym "tooth agenesis, selective, X-linked, 1" MONDO:0010741 oboInOwl:hasExactSynonym "tooth agenesis, selective, X-linked, type 1" MONDO:0010741 oboInOwl:hasExactSynonym "tooth agenesis caused by mutation in EDA" MONDO:0010741 oboInOwl:hasExactSynonym "EDA tooth agenesis" +MONDO:0010741 oboInOwl:hasExactSynonym "tooth agenesis, selective, X-linked 1, X-linked dominant" MONDO:0021088 oboInOwl:hasExactSynonym "papillary meningioma" MONDO:0043606 oboInOwl:hasExactSynonym "pathological fracture" MONDO:0043606 oboInOwl:hasExactSynonym "pathologic fracture" @@ -93667,6 +93800,7 @@ MONDO:0003824 oboInOwl:hasExactSynonym "hereditary renal oncocytoma" MONDO:0003824 oboInOwl:hasExactSynonym "hereditary kidney oncocytoma" MONDO:0003824 oboInOwl:hasExactSynonym "familial renal oncocytoma" MONDO:0011670 oboInOwl:hasExactSynonym "EDS, classic-like type" +MONDO:0011670 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome, classic-like, 1" MONDO:0011670 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome, classic-like type" MONDO:0011670 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome due to tenascin-X deficiency" MONDO:0011323 oboInOwl:hasExactSynonym "arhinia, choanal atresia, and microphthalmia" @@ -93755,6 +93889,7 @@ MONDO:0004397 oboInOwl:hasExactSynonym "benign psammomatous neurilemmoma of the MONDO:0004397 oboInOwl:hasExactSynonym "benign psammomatous neurilemmoma of mediastinum" MONDO:0014442 oboInOwl:hasExactSynonym "Bardet-Biedl syndrome 14" MONDO:0014442 oboInOwl:hasExactSynonym "BBS14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014442 oboInOwl:hasExactSynonym "Bardet-Biedl syndrome 14, modifier of" MONDO:0014442 oboInOwl:hasExactSynonym "Bardet-Biedl syndrome type 14" MONDO:0009626 oboInOwl:hasExactSynonym "pseudo-TORCH syndrome" MONDO:0009626 oboInOwl:hasExactSynonym "bilateral band-like calcification with polymicrogyria" @@ -93801,24 +93936,24 @@ HP:0002185 oboInOwl:hasExactSynonym "Neurofibrillary tangles composed of disorde MONDO:0009813 oboInOwl:hasExactSynonym "non-bacterial osteomyelitis" MONDO:0009813 oboInOwl:hasExactSynonym "chronic recurrent multifocal osteomyelitis (disease)" MONDO:0009813 oboInOwl:hasExactSynonym "chronic recurrent multifocal osteomyelitis" -MONDO:0009813 oboInOwl:hasExactSynonym "chronic multifocal osteomyelitis" MONDO:0009813 oboInOwl:hasExactSynonym "CNO/CRMO" MONDO:0009813 oboInOwl:hasExactSynonym "CRMO" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009813 oboInOwl:hasExactSynonym "chronic multifocal osteomyelitis" MONDO:0009813 oboInOwl:hasExactSynonym "NBO" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009378 oboInOwl:hasExactSynonym "hyperalaninemia" MONDO:0009378 oboInOwl:hasExactSynonym "hyper-beta-alaninemia" -MONDO:0012727 oboInOwl:hasExactSynonym "MLNS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012727 oboInOwl:hasExactSynonym "acute febrile mucocutaneous lymph node syndrome" MONDO:0012727 oboInOwl:hasExactSynonym "acute febrile mucocutaneous lymph node syndrome [MCLS]" +MONDO:0012727 oboInOwl:hasExactSynonym "mucocutaneous lymph node syndrome" MONDO:0012727 oboInOwl:hasExactSynonym "acute febrile MCLS" +MONDO:0012727 oboInOwl:hasExactSynonym "acute febrile mucocutaneous lymph node syndrome" MONDO:0012727 oboInOwl:hasExactSynonym "Kawasaki's disease" +MONDO:0012727 oboInOwl:hasExactSynonym "MLNS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012727 oboInOwl:hasExactSynonym "infantile polyarteritis nodosa" -MONDO:0012727 oboInOwl:hasExactSynonym "mucocutaneous lymph node syndrome" MONDO:0017827 oboInOwl:hasExactSynonym "malignant neoplasm of the peripheral nerve sheath" MONDO:0017827 oboInOwl:hasExactSynonym "neurofibrosarcoma" MONDO:0017827 oboInOwl:hasExactSynonym "malignant peripheral nerve sheath neoplasm" -MONDO:0017827 oboInOwl:hasExactSynonym "malignant neurilemoma" MONDO:0017827 oboInOwl:hasExactSynonym "neurogenic sarcoma" +MONDO:0017827 oboInOwl:hasExactSynonym "malignant neurilemoma" MONDO:0017827 oboInOwl:hasExactSynonym "malignant peripheral nerve sheath tumor (morphologic abnormality)" MONDO:0017827 oboInOwl:hasExactSynonym "malignant tumor of the peripheral nerve sheath" MONDO:0017827 oboInOwl:hasExactSynonym "malignant neoplasm of peripheral nerve sheath" @@ -93875,8 +94010,9 @@ HP:0010972 oboInOwl:hasExactSynonym "Anaemia of inadequate production" http://pu HP:0010972 oboInOwl:hasExactSynonym "Anemia, dyserythropoietic" HP:0010972 oboInOwl:hasExactSynonym "Dyserythropoietic anaemia" http://purl.obolibrary.org/obo/hp.obo#uk_spelling HP:0010972 oboInOwl:hasExactSynonym "Defective erythropoiesis" -MONDO:0007169 oboInOwl:hasExactSynonym "atherosclerosis susceptibility" MONDO:0007169 oboInOwl:hasExactSynonym "ATHS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007169 oboInOwl:hasExactSynonym "atherosclerosis susceptibility" +MONDO:0007169 oboInOwl:hasExactSynonym "atherosclerosis, susceptibility to" GO:0051270 oboInOwl:hasExactSynonym "regulation of cellular component motion" MONDO:0014058 oboInOwl:hasExactSynonym "fils syndrome" MONDO:0010546 oboInOwl:hasExactSynonym "central incisors, absence of" @@ -93886,6 +94022,7 @@ MONDO:0005857 oboInOwl:hasExactSynonym "Morbillivirus infectious disease" MONDO:0100058 oboInOwl:hasExactSynonym "branched-chain aminotransferase deficiency" MONDO:0100058 oboInOwl:hasExactSynonym "HVLI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100058 oboInOwl:hasExactSynonym "hypervalinemia and hyperleucine-isoleucinemia" +MONDO:0100058 oboInOwl:hasExactSynonym "hypervalinemia or hyperleucine-isoleucinemia" HP:0000240 oboInOwl:hasExactSynonym "Abnormality of cranium size" HP:0000240 oboInOwl:hasExactSynonym "Abnormality of skull size" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0016839 oboInOwl:hasExactSynonym "distal del(17)(p13.3)" @@ -93917,6 +94054,7 @@ MONDO:0004150 oboInOwl:hasExactSynonym "giant fibroadenoma" MONDO:0021643 oboInOwl:hasExactSynonym "mesentery varicose disease" MONDO:0021643 oboInOwl:hasExactSynonym "varicose disease of mesentery" MONDO:0013299 oboInOwl:hasExactSynonym "chromosome 6q11-q14 deletion syndrome" +MONDO:0013299 oboInOwl:hasExactSynonym "chromosome 6q11-q14 deletion syndrome, isolated cases" MONDO:0005387 oboInOwl:hasExactSynonym "primary ovarian insufficiency" MONDO:0005387 oboInOwl:hasExactSynonym "primary ovarian failure" MONDO:0005387 oboInOwl:hasExactSynonym "premature ovarian failure" @@ -93930,6 +94068,7 @@ MONDO:0011987 oboInOwl:hasExactSynonym "cone-rod dystrophy caused by mutation in MONDO:0012933 oboInOwl:hasExactSynonym "breast-ovarian cancer, familial, susceptibility to, type 2" MONDO:0012933 oboInOwl:hasExactSynonym "hereditary breast ovarian cancer syndrome caused by mutation in BRCA2" MONDO:0012933 oboInOwl:hasExactSynonym "breast-ovarian cancer, familial, susceptibility to, 2" +MONDO:0012933 oboInOwl:hasExactSynonym "breast-ovarian cancer, familial, 2" MONDO:0012933 oboInOwl:hasExactSynonym "BRCA2 hereditary breast ovarian cancer syndrome" PATO:0001997 oboInOwl:hasExactSynonym "present in fewer numbers in organism" PATO:0001997 oboInOwl:hasExactSynonym "decreased number" @@ -93955,6 +94094,7 @@ MONDO:0010052 oboInOwl:hasExactSynonym "spermatogenic failure 4" MONDO:0010052 oboInOwl:hasExactSynonym "azoospermia caused by mutation in SYCP3" MONDO:0010052 oboInOwl:hasExactSynonym "SYCP3 azoospermia" MONDO:0012252 oboInOwl:hasExactSynonym "familial rhabdoid tumor caused by mutation in SMARCB1" +MONDO:0012252 oboInOwl:hasExactSynonym "rhabdoid tumors, somatic" MONDO:0012252 oboInOwl:hasExactSynonym "rhabdoid tumor predisposition syndrome 1" MONDO:0012252 oboInOwl:hasExactSynonym "rhabdoid tumor predisposition syndrome type 1" MONDO:0012252 oboInOwl:hasExactSynonym "SMARCB1 familial rhabdoid tumor" @@ -94003,6 +94143,7 @@ GO:1905652 oboInOwl:hasExactSynonym "down-regulation of arterial morphogenesis" MONDO:0011493 oboInOwl:hasExactSynonym "Stickler syndrome type II" MONDO:0011493 oboInOwl:hasExactSynonym "COL11A1 Stickler syndrome" MONDO:0011493 oboInOwl:hasExactSynonym "Stickler syndrome caused by mutation in COL11A1" +MONDO:0010325 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type" MONDO:0011883 oboInOwl:hasExactSynonym "Curly hair - acral keratoderma - caries syndrome" MONDO:0011883 oboInOwl:hasExactSynonym "Chac syndrome" MONDO:0011883 oboInOwl:hasExactSynonym "CHACS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -94012,6 +94153,7 @@ GO:1901663 oboInOwl:hasExactSynonym "quinone anabolism" GO:1901663 oboInOwl:hasExactSynonym "quinone biosynthesis" GO:1901663 oboInOwl:hasExactSynonym "quinone synthesis" GO:1901663 oboInOwl:hasExactSynonym "quinone formation" +MONDO:0018023 oboInOwl:hasExactSynonym "methemoglobinemia, beta type" MONDO:0018023 oboInOwl:hasExactSynonym "M hemoglobinopathy" MONDO:0017335 oboInOwl:hasExactSynonym "tetrasomy 11q24.1" MONDO:0008216 oboInOwl:hasExactSynonym "pelvic lipomatosis with crossed renal ectopia" @@ -94083,6 +94225,7 @@ GO:0002225 oboInOwl:hasExactSynonym "antimicrobial peptide induction" GO:0002225 oboInOwl:hasExactSynonym "up-regulation of antimicrobial peptide production" ECTO:0001591 oboInOwl:hasExactSynonym "Occupation exposure" MONDO:0012935 oboInOwl:hasExactSynonym "leukemia, chronic lymphocytic, susceptibility to, type 4" +MONDO:0012935 oboInOwl:hasExactSynonym "leukemia, chronic lymphocytic susceptibility to, 4" MONDO:0012935 oboInOwl:hasExactSynonym "leukemia, chronic lymphocytic, susceptibility to, 4" MONDO:0008859 oboInOwl:hasExactSynonym "berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification" MONDO:0002176 oboInOwl:hasExactSynonym "malignant connective tissue neoplasm" @@ -94115,11 +94258,11 @@ MONDO:0005552 oboInOwl:hasExactSynonym "vasculature of eye disease" MONDO:0019606 oboInOwl:hasExactSynonym "cryoglobulinemia type 1" MONDO:0007752 oboInOwl:hasExactSynonym "hyperheparinemia" MONDO:0030522 oboInOwl:hasExactSynonym "SPGF64" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013309 oboInOwl:hasExactSynonym "chromosome 2p12-p11.2 deletion syndrome" MONDO:0004447 oboInOwl:hasExactSynonym "meningioma of pituitary stalk" MONDO:0004447 oboInOwl:hasExactSynonym "meningioma (disease) of pituitary stalk" MONDO:0004447 oboInOwl:hasExactSynonym "meningioma of the pituitary stalk" MONDO:0004447 oboInOwl:hasExactSynonym "pituitary stalk meningioma (disease)" +MONDO:0013309 oboInOwl:hasExactSynonym "chromosome 2p12-p11.2 deletion syndrome" MONDO:0002013 oboInOwl:hasExactSynonym "lymphangioma" MONDO:0002013 oboInOwl:hasExactSynonym "benign lymphangioma" MONDO:0002013 oboInOwl:hasExactSynonym "lymphangioma, benign" @@ -94142,6 +94285,12 @@ MONDO:0013515 oboInOwl:hasExactSynonym "osteogenesis imperfecta caused by mutati MONDO:0013515 oboInOwl:hasExactSynonym "SERPINF1 osteogenesis imperfecta" MONDO:0013515 oboInOwl:hasExactSynonym "osteogenesis imperfecta type VI" CHEBI:33484 oboInOwl:hasExactSynonym "chalcogen oxoacid" +MONDO:0021487 oboInOwl:hasExactSynonym "benign choroid tumor" +MONDO:0021487 oboInOwl:hasExactSynonym "benign tumor of choroid" +MONDO:0021487 oboInOwl:hasExactSynonym "optic choroid benign neoplasm" +MONDO:0021487 oboInOwl:hasExactSynonym "benign choroid neoplasm" +MONDO:0021487 oboInOwl:hasExactSynonym "benign tumor of the choroid" +MONDO:0021487 oboInOwl:hasExactSynonym "benign neoplasm of the choroid" MONDO:0003762 oboInOwl:hasExactSynonym "malignant leptomeninx neoplasm" MONDO:0003762 oboInOwl:hasExactSynonym "malignant neoplasm of leptomeninx" MONDO:0003762 oboInOwl:hasExactSynonym "leptomeninx cancer" @@ -94149,12 +94298,6 @@ MONDO:0003762 oboInOwl:hasExactSynonym "malignant tumor of leptomeninges" MONDO:0003762 oboInOwl:hasExactSynonym "malignant leptomeningeal tumor" MONDO:0003762 oboInOwl:hasExactSynonym "malignant leptomeningeal neoplasm" MONDO:0003762 oboInOwl:hasExactSynonym "cancer of leptomeninx" -MONDO:0021487 oboInOwl:hasExactSynonym "benign choroid tumor" -MONDO:0021487 oboInOwl:hasExactSynonym "benign tumor of choroid" -MONDO:0021487 oboInOwl:hasExactSynonym "optic choroid benign neoplasm" -MONDO:0021487 oboInOwl:hasExactSynonym "benign choroid neoplasm" -MONDO:0021487 oboInOwl:hasExactSynonym "benign tumor of the choroid" -MONDO:0021487 oboInOwl:hasExactSynonym "benign neoplasm of the choroid" MONDO:0005888 oboInOwl:hasExactSynonym "psittacosis" MONDO:0000231 oboInOwl:hasExactSynonym "Rickettsia heilongjiangensis spotted fever" MONDO:0006134 oboInOwl:hasExactSynonym "adenosquamous carcinoma of cervix" @@ -94182,8 +94325,10 @@ MONDO:0043275 oboInOwl:hasExactSynonym "torch syndrome" MONDO:0043275 oboInOwl:hasExactSynonym "toxoplasmosis, Other infections, Rubella, Cytomegalovirus, and Herpes simplex Virus (TORCH) syndrome" MONDO:0043275 oboInOwl:hasExactSynonym "TORCH infection" MONDO:0043275 oboInOwl:hasExactSynonym "TORCH syndrome" -MONDO:0012756 oboInOwl:hasExactSynonym "proximal monosomy 16p11.2" +MONDO:0012756 oboInOwl:hasExactSynonym "autism susceptibility 14A" MONDO:0012756 oboInOwl:hasExactSynonym "proximal del(16)(p11.2)" +MONDO:0012756 oboInOwl:hasExactSynonym "proximal monosomy 16p11.2" +MONDO:0012756 oboInOwl:hasExactSynonym "chromosome 16p11.2 deletion syndrome, 593kb" HP:0030186 oboInOwl:hasExactSynonym "Essential tremor" HP:0007447 oboInOwl:hasExactSynonym "Diffuse palmoplantar keratoderma" HP:0007447 oboInOwl:hasExactSynonym "Hyperkeratosis, diffuse palmoplantar" @@ -94199,6 +94344,7 @@ MONDO:0024270 oboInOwl:hasExactSynonym "parasitic intestinal disease" MONDO:0024270 oboInOwl:hasExactSynonym "intestine parasitic infection" MONDO:0013360 oboInOwl:hasExactSynonym "brachyolmia, Maroteaux type" MONDO:0013360 oboInOwl:hasExactSynonym "brachyolmia type 2" +MONDO:0014002 oboInOwl:hasExactSynonym "epilepsy nocturnal frontal lobe, 5" MONDO:0014002 oboInOwl:hasExactSynonym "autosomal dominant nocturnal frontal lobe epilepsy type 5" MONDO:0014002 oboInOwl:hasExactSynonym "ENFL5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014002 oboInOwl:hasExactSynonym "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1" @@ -94228,6 +94374,8 @@ MONDO:0001991 oboInOwl:hasExactSynonym "malignant heart germ cell neoplasm" MONDO:0001991 oboInOwl:hasExactSynonym "malignant Cardiac germ cell neoplasm" MONDO:0001991 oboInOwl:hasExactSynonym "malignant heart germ cell tumor" MONDO:0001991 oboInOwl:hasExactSynonym "malignant germ cell tumor of the heart" +MONDO:0005090 oboInOwl:hasExactSynonym "schizophrenia, susceptibility to" +MONDO:0005090 oboInOwl:hasExactSynonym "schizophrenia 12" MONDO:0005090 oboInOwl:hasExactSynonym "schizophrenia-1" MONDO:0005090 oboInOwl:hasExactSynonym "schizophrenia (disease)" MONDO:0005090 oboInOwl:hasExactSynonym "schizophrenia" @@ -94267,6 +94415,7 @@ NCBITaxon:318479 oboInOwl:hasExactSynonym "Guinea worm disease nematode" http:// NCBITaxon:318479 oboInOwl:hasExactSynonym "dracunculiasis worm" http://purl.obolibrary.org/obo/ncbitaxon#common_name MONDO:0014247 oboInOwl:hasExactSynonym "episodic pain syndrome, familial, type 3" MONDO:0007941 oboInOwl:hasExactSynonym "malocclusion due to protuberant upper front teeth" +MONDO:0013477 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 20" MONDO:0013477 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, type 20" MONDO:0013477 oboInOwl:hasExactSynonym "cardiomyopathy familial hypertrophic 20" MONDO:0013477 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy caused by mutation in NEXN" @@ -94274,14 +94423,16 @@ MONDO:0013477 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 20" MONDO:0013477 oboInOwl:hasExactSynonym "NEXN hypertrophic cardiomyopathy" MONDO:0013477 oboInOwl:hasExactSynonym "CMH20" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008310 oboInOwl:hasExactSynonym "Hutchinson Gilford syndrome" +MONDO:0008310 oboInOwl:hasExactSynonym "Hutchinson-Gilford progeria" MONDO:0008310 oboInOwl:hasExactSynonym "Hutchinson-Gilford disease" MONDO:0008310 oboInOwl:hasExactSynonym "Hutchinson-Gilford progeria syndrome" MONDO:0008310 oboInOwl:hasExactSynonym "HGPS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008310 oboInOwl:hasExactSynonym "premature senility syndrome" MONDO:0016102 oboInOwl:hasExactSynonym "SIDP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016102 oboInOwl:hasExactSynonym "subacute inflammatory demyelinating polyradiculoneuropathy" -MONDO:0030337 oboInOwl:hasExactSynonym "cutis laxa, autosomal recessive, type 2E" MONDO:0030337 oboInOwl:hasExactSynonym "ARCL2E" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0030337 oboInOwl:hasExactSynonym "cutis laxa, autosomal recessive, type IIE" +MONDO:0030337 oboInOwl:hasExactSynonym "cutis laxa, autosomal recessive, type 2E" MONDO:0011063 oboInOwl:hasExactSynonym "Christianson-Fourie syndrome" GO:0019852 oboInOwl:hasExactSynonym "L-ascorbic acid metabolism" GO:0019852 oboInOwl:hasExactSynonym "ascorbate metabolic process" @@ -94343,6 +94494,8 @@ GO:0009108 oboInOwl:hasExactSynonym "coenzyme biosynthesis" GO:0009108 oboInOwl:hasExactSynonym "coenzyme anabolism" GO:0009108 oboInOwl:hasExactSynonym "coenzyme formation" GO:0009108 oboInOwl:hasExactSynonym "coenzyme synthesis" +MONDO:0013517 oboInOwl:hasExactSynonym "thalassemia, beta" +MONDO:0013517 oboInOwl:hasExactSynonym "thalassemia, hispanic gamma-delta-beta" HP:0002905 oboInOwl:hasExactSynonym "High blood phosphate levels" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0004612 oboInOwl:hasExactSynonym "histiocytic medullary reticulosis" MONDO:0004612 oboInOwl:hasExactSynonym "Stewart's granuloma" @@ -94358,6 +94511,7 @@ MONDO:0012348 oboInOwl:hasExactSynonym "diabetes and pancreatic exocrine" MONDO:0012348 oboInOwl:hasExactSynonym "maturity-onset diabetes of the young type 8 with exocrine dysfunction" MONDO:0012348 oboInOwl:hasExactSynonym "MODY8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012348 oboInOwl:hasExactSynonym "MODY type 8" +MONDO:0012348 oboInOwl:hasExactSynonym "maturity-onset diabetes of the young, type VIII" MONDO:0012348 oboInOwl:hasExactSynonym "CEL maturity-onset diabetes of the young (disease)" MONDO:0016096 oboInOwl:hasExactSynonym "non-dysgerminomatous germ cell cancer of ovary" MONDO:0016096 oboInOwl:hasExactSynonym "ovarian non-dysgerminomatous germ cell tumor" @@ -94383,13 +94537,16 @@ MONDO:0012758 oboInOwl:hasExactSynonym "familial prostate cancer caused by mutat MONDO:0012758 oboInOwl:hasExactSynonym "prostate cancer, hereditary, type 13" MONDO:0012758 oboInOwl:hasExactSynonym "prostate cancer, hereditary, 13" MONDO:0012758 oboInOwl:hasExactSynonym "MSMB familial prostate cancer" +MONDO:0009113 oboInOwl:hasExactSynonym "erythrocytosis, familial, 8" MONDO:0009113 oboInOwl:hasExactSynonym "diphosphoglycerate phosphatase deficiency" MONDO:0004142 oboInOwl:hasExactSynonym "pulmonary combined large cell neuroendocrine carcinoma" MONDO:0004142 oboInOwl:hasExactSynonym "combined large cell neuroendocrine carcinoma of lung" MONDO:0004142 oboInOwl:hasExactSynonym "combined large cell neuroendocrine carcinoma of the lung" MONDO:0004142 oboInOwl:hasExactSynonym "combined large cell lung neuroendocrine carcinoma" +MONDO:0007365 oboInOwl:hasExactSynonym "seizures, benign neonatal, 1" MONDO:0007365 oboInOwl:hasExactSynonym "seizures, benign familial neonatal, type 1" MONDO:0007365 oboInOwl:hasExactSynonym "seizures, benign familial neonatal, 1" +MONDO:0007365 oboInOwl:hasExactSynonym "myokymia" MONDO:0007365 oboInOwl:hasExactSynonym "benign neonatal seizures caused by mutation in KCNQ2" MONDO:0007365 oboInOwl:hasExactSynonym "KCNQ2 benign neonatal seizures" MONDO:0001633 oboInOwl:hasExactSynonym "central retinal arterial occlusion" @@ -94400,11 +94557,14 @@ MONDO:0014971 oboInOwl:hasExactSynonym "AI2A6" http://purl.obolibrary.org/obo/mo MONDO:0003281 oboInOwl:hasExactSynonym "ovary cystic teratoma" MONDO:0006798 oboInOwl:hasExactSynonym "hypervitaminosis type A" MONDO:0033115 oboInOwl:hasExactSynonym "spinocerebellar ataxia, autosomal recessive 25" +MONDO:0007744 oboInOwl:hasExactSynonym "hyperalphalipoproteinemia" MONDO:0007744 oboInOwl:hasExactSynonym "CEPT deficiency" +MONDO:0007744 oboInOwl:hasExactSynonym "high density lipoprotein cholesterol level QTL 10" MONDO:0007744 oboInOwl:hasExactSynonym "familial hyperalphalipoproteinemia" MONDO:0007744 oboInOwl:hasExactSynonym "hyperalphalipoproteinemia type 1" MONDO:0010976 oboInOwl:hasExactSynonym "EBS-AR KRT14" MONDO:0010976 oboInOwl:hasExactSynonym "KRT14-related epidermolysis bullosa simplex" +MONDO:0010976 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive" MONDO:0010976 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex, autosomal recessive type 1" MONDO:0010976 oboInOwl:hasExactSynonym "KRT14-related autosomal recessive epidermolysis bullosa simplex" MONDO:0010976 oboInOwl:hasExactSynonym "KRT14-related autosomal recessive EBS" @@ -94430,14 +94590,15 @@ MONDO:0012068 oboInOwl:hasExactSynonym "brachial palsy, familial congenital" MONDO:0011298 oboInOwl:hasExactSynonym "SCZD8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011298 oboInOwl:hasExactSynonym "schizophrenia 8" MONDO:0030453 oboInOwl:hasExactSynonym "DEE97" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019713 oboInOwl:hasExactSynonym "nonsyndromic limb reduction defect" -MONDO:0019713 oboInOwl:hasExactSynonym "non-syndromic limb hypoplasia" MONDO:0012244 oboInOwl:hasExactSynonym "prostate cancer, hereditary, type 5" MONDO:0012244 oboInOwl:hasExactSynonym "prostate cancer, hereditary, 5" +MONDO:0019713 oboInOwl:hasExactSynonym "non-syndromic limb hypoplasia" +MONDO:0019713 oboInOwl:hasExactSynonym "nonsyndromic limb reduction defect" MONDO:0008772 oboInOwl:hasExactSynonym "amelogenesis imperfecta pigmented hypomaturation type 1" MONDO:0008772 oboInOwl:hasExactSynonym "AI2A1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008772 oboInOwl:hasExactSynonym "amelogenesis imperfecta caused by mutation in KLK4" MONDO:0008772 oboInOwl:hasExactSynonym "KLK4 amelogenesis imperfecta" +MONDO:0008772 oboInOwl:hasExactSynonym "amelogenesis imperfecta, type IIA1" MONDO:0008772 oboInOwl:hasExactSynonym "amelogenesis imperfecta type IIA1" GO:1902932 oboInOwl:hasExactSynonym "upregulation of alcohol synthesis" GO:1902932 oboInOwl:hasExactSynonym "up regulation of alcohol biosynthetic process" @@ -94470,13 +94631,14 @@ MONDO:0016786 oboInOwl:hasExactSynonym "incomplete hydatidiform mole" MONDO:0016786 oboInOwl:hasExactSynonym "incomplete molar pregnancy" MONDO:0017732 oboInOwl:hasExactSynonym "lysosomal alpha-D-mannosidase deficiency, infantile form" CL:0001059 oboInOwl:hasExactSynonym "common myeloid precursor, CD34-positive" +MONDO:0010286 oboInOwl:hasExactSynonym "Siderius X-linked intellectual disability syndrome" +MONDO:0010286 oboInOwl:hasExactSynonym "MRXSSD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010286 oboInOwl:hasExactSynonym "Siderius-Hamel syndrome" MONDO:0010286 oboInOwl:hasExactSynonym "mental retardation syndrome, X-linked, Siderius type" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010286 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked, syndromic, Siderius type, X-linked recessive" +MONDO:0010286 oboInOwl:hasExactSynonym "Siderius X-linked mental retardation syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010286 oboInOwl:hasExactSynonym "syndromic X-linked intellectual disability Siderius type" -MONDO:0010286 oboInOwl:hasExactSynonym "Siderius-Hamel syndrome" -MONDO:0010286 oboInOwl:hasExactSynonym "MRXSSD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010286 oboInOwl:hasExactSynonym "intellectual disability syndrome, X-linked, Siderius type" -MONDO:0010286 oboInOwl:hasExactSynonym "Siderius X-linked mental retardation syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED -MONDO:0010286 oboInOwl:hasExactSynonym "Siderius X-linked intellectual disability syndrome" NCBITaxon:1891762 oboInOwl:hasExactSynonym "polyomavirus BK" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:1891762 oboInOwl:hasExactSynonym "human polyomavirus type BK BKV" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:1891762 oboInOwl:hasExactSynonym "BK polyomavirus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name @@ -94514,6 +94676,7 @@ MONDO:0021431 oboInOwl:hasExactSynonym "buccal mucosa squamous cell carcinoma" MONDO:0021431 oboInOwl:hasExactSynonym "scc of buccal mucosa" MONDO:0010169 oboInOwl:hasExactSynonym "USH2A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010169 oboInOwl:hasExactSynonym "Usher syndrome caused by mutation in USH2A" +MONDO:0010169 oboInOwl:hasExactSynonym "retinal disease in usher syndrome type IIA, modifier of" MONDO:0010169 oboInOwl:hasExactSynonym "Usher syndrome type 2A" MONDO:0010169 oboInOwl:hasExactSynonym "Usher syndrome type IIA" MONDO:0010169 oboInOwl:hasExactSynonym "USH2A Usher syndrome" @@ -94522,6 +94685,7 @@ MONDO:0012630 oboInOwl:hasExactSynonym "AD13" http://purl.obolibrary.org/obo/mon MONDO:0012630 oboInOwl:hasExactSynonym "Alzheimer's disease type 13" MONDO:0012630 oboInOwl:hasExactSynonym "Alzheimer's disease 13" MONDO:0012630 oboInOwl:hasExactSynonym "Alzheimer disease 13" +MONDO:0012630 oboInOwl:hasExactSynonym "Alzheimer disease-13" MONDO:0011924 oboInOwl:hasExactSynonym "panic disorder 2" MONDO:0011924 oboInOwl:hasExactSynonym "panic disorder type 2" GO:0007265 oboInOwl:hasExactSynonym "Ras mediated signal transduction" @@ -94530,7 +94694,9 @@ MONDO:0020644 oboInOwl:hasExactSynonym "non-Hodgkin lymphoma of lung" MONDO:0020644 oboInOwl:hasExactSynonym "primary lung non-Hodgkin's lymphoma" MONDO:0020644 oboInOwl:hasExactSynonym "lung non-Hodgkin's lymphoma" MONDO:0020644 oboInOwl:hasExactSynonym "lung non-Hodgkin lymphoma" +MONDO:0100489 oboInOwl:hasExactSynonym "Graves disease, susceptibility to, 1" CL:1000413 oboInOwl:hasExactSynonym "arterial endothelial cell" +MONDO:0011807 oboInOwl:hasExactSynonym "systemic lupus erythematosus with hemolytic anemia" MONDO:0011807 oboInOwl:hasExactSynonym "SLEH1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011807 oboInOwl:hasExactSynonym "systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1" MONDO:0011807 oboInOwl:hasExactSynonym "systemic lupus erythematosus, hemolytic Anemia-related" @@ -94582,8 +94748,8 @@ MONDO:0021089 oboInOwl:hasExactSynonym "malignant neoplasm of peripheral nerve" MONDO:0021089 oboInOwl:hasExactSynonym "malignant peripheral nerve tumor" MONDO:0021089 oboInOwl:hasExactSynonym "malignant tumor of the peripheral nervous system" MONDO:0021089 oboInOwl:hasExactSynonym "malignant tumor of the PNS" -MONDO:0021089 oboInOwl:hasExactSynonym "malignant neoplasm of the peripheral nerve" MONDO:0021089 oboInOwl:hasExactSynonym "cancer of peripheral nervous system" +MONDO:0021089 oboInOwl:hasExactSynonym "malignant neoplasm of the peripheral nerve" MONDO:0021089 oboInOwl:hasExactSynonym "malignant PNS neoplasm" MONDO:0021089 oboInOwl:hasExactSynonym "malignant peripheral nervous system neoplasm" MONDO:0021089 oboInOwl:hasExactSynonym "malignant tumor of PNS" @@ -94660,12 +94826,13 @@ MONDO:0003825 oboInOwl:hasExactSynonym "renal epithelial oncocytic neoplasm" MONDO:0011671 oboInOwl:hasExactSynonym "Huntington disease-like 2" MONDO:0011671 oboInOwl:hasExactSynonym "HDL2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011671 oboInOwl:hasExactSynonym "Huntington disease-like type 2" +MONDO:0001664 oboInOwl:hasExactSynonym "submucous leiomyoma of uterus" MONDO:0006635 oboInOwl:hasExactSynonym "Acinetobacter disease or disorder" MONDO:0006635 oboInOwl:hasExactSynonym "Acinetobacter caused disease or disorder" -MONDO:0001664 oboInOwl:hasExactSynonym "submucous leiomyoma of uterus" MONDO:0007567 oboInOwl:hasExactSynonym "Epstein-Barr virus insertion site 1" MONDO:0007567 oboInOwl:hasExactSynonym "Epstein-Barr Virus insertion site type 1" HP:0100872 oboInOwl:hasExactSynonym "Minor feet anomalies" +MONDO:0010451 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 41, X-linked dominant" MONDO:0010451 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 41" MONDO:0010451 oboInOwl:hasExactSynonym "intellectual disability, X-linked 41" MONDO:0010451 oboInOwl:hasExactSynonym "GDI1 non-syndromic X-linked intellectual disability" @@ -94729,13 +94896,13 @@ MONDO:0006438 oboInOwl:hasExactSynonym "Reichel's syndrome" MONDO:0006438 oboInOwl:hasExactSynonym "Henderson-Jones syndrome" CHEBI:17334 oboInOwl:hasExactSynonym "penicillins" CHEBI:17334 oboInOwl:hasExactSynonym "Penicillin" -MONDO:0015484 oboInOwl:hasExactSynonym "neurocysticercosis" -MONDO:0015484 oboInOwl:hasExactSynonym "pork tapeworm infection" +MONDO:0015484 oboInOwl:hasExactSynonym "intestinal taenia solium infection" MONDO:0015484 oboInOwl:hasExactSynonym "tapeworm infection: pork" +MONDO:0015484 oboInOwl:hasExactSynonym "neurocysticercosis" MONDO:0015484 oboInOwl:hasExactSynonym "tapeworm infection: intestinal taenia solum" +MONDO:0015484 oboInOwl:hasExactSynonym "pork tapeworm infection" MONDO:0015484 oboInOwl:hasExactSynonym "tenia solium infectious disease" MONDO:0015484 oboInOwl:hasExactSynonym "tapeworm infection: [intestinal taenia solium] or [pork]" -MONDO:0015484 oboInOwl:hasExactSynonym "intestinal taenia solium infection" MONDO:0020039 oboInOwl:hasExactSynonym "46,XX DSD induced by androgens excess" MONDO:0023153 oboInOwl:hasExactSynonym "tuberculous ascites" NCBITaxon:42414 oboInOwl:hasExactSynonym "cotton rats" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name @@ -94753,6 +94920,7 @@ MONDO:0004398 oboInOwl:hasExactSynonym "mediastinal neurilemmoma" MONDO:0004398 oboInOwl:hasExactSynonym "mediastinal schwannoma" MONDO:0004398 oboInOwl:hasExactSynonym "schwannoma of mediastinum" MONDO:0011220 oboInOwl:hasExactSynonym "PARK3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011220 oboInOwl:hasExactSynonym "Parkinson disease 3" MONDO:0023415 oboInOwl:hasExactSynonym "congenital candidiasis" MONDO:0014443 oboInOwl:hasExactSynonym "WDPCP Bardet-Biedl syndrome" MONDO:0014443 oboInOwl:hasExactSynonym "Bardet-Biedl syndrome type 15" @@ -94774,6 +94942,7 @@ MONDO:0009627 oboInOwl:hasExactSynonym "nephrosis-neuronal dysmigration syndrome MONDO:0009627 oboInOwl:hasExactSynonym "microcephaly-hiatus hernia-nephrotic syndrome" MONDO:0009627 oboInOwl:hasExactSynonym "nephrosis-microcephaly syndrome" MONDO:0009627 oboInOwl:hasExactSynonym "Galloway-Mowat syndrome" +MONDO:0044274 oboInOwl:hasExactSynonym "hemoglobin, high altitude adaptation" MONDO:0014653 oboInOwl:hasExactSynonym "ZNF408 retinitis pigmentosa" MONDO:0014653 oboInOwl:hasExactSynonym "retinitis pigmentosa type 72" MONDO:0014653 oboInOwl:hasExactSynonym "RP72" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -94803,8 +94972,8 @@ MONDO:0014840 oboInOwl:hasExactSynonym "TCF3 autosomal agammaglobulinemia" MONDO:0014840 oboInOwl:hasExactSynonym "agammaglobulinemia 8, autosomal dominant; AGM8" MONDO:0014840 oboInOwl:hasExactSynonym "AGM8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014840 oboInOwl:hasExactSynonym "agammaglobulinemia 8, autosomal dominant" -MONDO:0017030 oboInOwl:hasExactSynonym "ILD in childhood and adulthood" GO:0042592 oboInOwl:hasExactSynonym "homeostasis" +MONDO:0017030 oboInOwl:hasExactSynonym "ILD in childhood and adulthood" MONDO:0021254 oboInOwl:hasExactSynonym "uterine corpus tumor" MONDO:0021254 oboInOwl:hasExactSynonym "tumor of uterine body" MONDO:0021254 oboInOwl:hasExactSynonym "tumor of body of uterus" @@ -94909,6 +95078,7 @@ MONDO:0011190 oboInOwl:hasExactSynonym "NPH2" http://purl.obolibrary.org/obo/mon MONDO:0011190 oboInOwl:hasExactSynonym "nephronophthisis 2" MONDO:0011190 oboInOwl:hasExactSynonym "NPHP2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011190 oboInOwl:hasExactSynonym "infantile nephronophthisis 2" +MONDO:0011190 oboInOwl:hasExactSynonym "nephronophthisis 2, infantile" ENVO:00000134 oboInOwl:hasExactSynonym "Permafrost" MONDO:0018653 oboInOwl:hasExactSynonym "PPAP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018653 oboInOwl:hasExactSynonym "Polymerase proofreading-related adenomatous polyposis" @@ -94926,8 +95096,8 @@ MONDO:0010618 oboInOwl:hasExactSynonym "X-linked hypoparathyroidism" MONDO:0016778 oboInOwl:hasExactSynonym "accidental botulism" MONDO:0016778 oboInOwl:hasExactSynonym "inadvertent botulism" MONDO:0018978 oboInOwl:hasExactSynonym "fibrosing mediastinitis" -MONDO:0018978 oboInOwl:hasExactSynonym "sclerosing mediastinitis" MONDO:0018978 oboInOwl:hasExactSynonym "mediastinal fibrosis" +MONDO:0018978 oboInOwl:hasExactSynonym "sclerosing mediastinitis" GO:0033036 oboInOwl:hasExactSynonym "macromolecule localisation" MONDO:0009816 oboInOwl:hasExactSynonym "osteoclast-poor osteopetrosis" MONDO:0009816 oboInOwl:hasExactSynonym "mild autosomal recessive form osteopetrosis" @@ -94970,6 +95140,7 @@ MONDO:0004259 oboInOwl:hasExactSynonym "endocervix carcinoma" MONDO:0004259 oboInOwl:hasExactSynonym "endocervical carcinoma" MONDO:0004259 oboInOwl:hasExactSynonym "carcinoma of the endocervix" MONDO:0004259 oboInOwl:hasExactSynonym "carcinoma of endocervix" +MONDO:0010482 oboInOwl:hasExactSynonym "Parkinsonism with spasticity, X-linked, X-linked recessive" MONDO:0010482 oboInOwl:hasExactSynonym "XPDS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0050871 oboInOwl:hasExactSynonym "positive regulation of B-cell activation" GO:0050871 oboInOwl:hasExactSynonym "positive regulation of B lymphocyte activation" @@ -94989,6 +95160,8 @@ MONDO:0013876 oboInOwl:hasExactSynonym "skin basal cell carcinoma caused by muta MONDO:0013876 oboInOwl:hasExactSynonym "basal cell carcinoma, susceptibility to, type 7" MONDO:0013876 oboInOwl:hasExactSynonym "TP53 skin basal cell carcinoma" MONDO:0013876 oboInOwl:hasExactSynonym "basal cell carcinoma, susceptibility to, 7" +MONDO:0013876 oboInOwl:hasExactSynonym "basal cell carcinoma 7" +MONDO:0021459 oboInOwl:hasExactSynonym "esophagus benign neoplasm" MONDO:0021459 oboInOwl:hasExactSynonym "benign neoplasm of the esophagus" MONDO:0021459 oboInOwl:hasExactSynonym "benign esophageal neoplasm" MONDO:0021459 oboInOwl:hasExactSynonym "benign tumor of the esophagus" @@ -94996,7 +95169,6 @@ MONDO:0021459 oboInOwl:hasExactSynonym "benign tumor of esophagus" MONDO:0021459 oboInOwl:hasExactSynonym "benign esophagus neoplasm" MONDO:0021459 oboInOwl:hasExactSynonym "benign esophageal tumor" MONDO:0021459 oboInOwl:hasExactSynonym "benign esophagus tumor" -MONDO:0021459 oboInOwl:hasExactSynonym "esophagus benign neoplasm" CHEBI:33233 oboInOwl:hasExactSynonym "elementary particle" MONDO:0010549 oboInOwl:hasExactSynonym "CMTX1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010549 oboInOwl:hasExactSynonym "Charcot Marie Tooth disease X-linked 1" @@ -95005,6 +95177,7 @@ MONDO:0010549 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type X cause MONDO:0010549 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, X-linked dominant, type 1" MONDO:0010549 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy X type 1" MONDO:0010549 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease X-linked dominant 1" +MONDO:0010549 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, X-linked dominant" MONDO:0010549 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy, X-linked, 1" MONDO:0010549 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, X-linked dominant, 1" MONDO:0010549 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, X-linked, 1" @@ -95064,6 +95237,7 @@ MONDO:0014941 oboInOwl:hasExactSynonym "DAIPT" http://purl.obolibrary.org/obo/mo MONDO:0008217 oboInOwl:hasExactSynonym "Scapuloiliac dysostosis" MONDO:0008217 oboInOwl:hasExactSynonym "pelvis-shoulder dysplasia" MONDO:0008217 oboInOwl:hasExactSynonym "Kosenow syndrome" +MONDO:0012936 oboInOwl:hasExactSynonym "leukemia, chronic lymphocytic susceptibility to, 5" MONDO:0012936 oboInOwl:hasExactSynonym "leukemia, chronic lymphocytic, susceptibility to, type 5" MONDO:0012936 oboInOwl:hasExactSynonym "leukemia, chronic lymphocytic, susceptibility to, 5" MONDO:0002177 oboInOwl:hasExactSynonym "hyperinsulinemia" @@ -95073,6 +95247,7 @@ MONDO:0001811 oboInOwl:hasExactSynonym "hypocalcaemic cataract" GO:0030104 oboInOwl:hasExactSynonym "regulation of osmotic pressure" ECTO:7000114 oboInOwl:hasExactSynonym "aerosol exposure" GO:0051271 oboInOwl:hasExactSynonym "negative regulation of cellular component motion" +MONDO:0014059 oboInOwl:hasExactSynonym "microphthalmia, syndromic 15" MONDO:0014059 oboInOwl:hasExactSynonym "microphthalmia, isolated, with coloboma 9" MONDO:0014059 oboInOwl:hasExactSynonym "TENM3 microphthalmia, isolated, with coloboma" MONDO:0014059 oboInOwl:hasExactSynonym "microphthalmia, isolated, with coloboma type 9" @@ -95093,9 +95268,9 @@ MONDO:0017694 oboInOwl:hasExactSynonym "glycogen storage disease type 2, infanti MONDO:0017694 oboInOwl:hasExactSynonym "alpha-1,4-glucosidase acid deficiency, infantile onset" MONDO:0017694 oboInOwl:hasExactSynonym "GSD due to acid maltase deficiency, infantile onset" MONDO:0014645 oboInOwl:hasExactSynonym "B-cell expansion with NF-kB and T-cell anergy disease" +GO:2000215 oboInOwl:hasExactSynonym "negative regulation of proline metabolism" MONDO:0002990 oboInOwl:hasExactSynonym "benign deep fibrous histiocytoma" MONDO:0002990 oboInOwl:hasExactSynonym "deep benign fibrous histiocytoma" -GO:2000215 oboInOwl:hasExactSynonym "negative regulation of proline metabolism" CL:0010004 oboInOwl:hasExactSynonym "bone marrow mononuclear cell" MONDO:0006312 oboInOwl:hasExactSynonym "myofibroma" MONDO:0006312 oboInOwl:hasExactSynonym "myofibroma (morphologic abnormality)" @@ -95106,6 +95281,7 @@ MONDO:0004151 oboInOwl:hasExactSynonym "cancer of meninx of spinal cord" MONDO:0004151 oboInOwl:hasExactSynonym "malignant neoplasm of meninx of spinal cord" MONDO:0004151 oboInOwl:hasExactSynonym "malignant meninx of spinal cord neoplasm" MONDO:0004151 oboInOwl:hasExactSynonym "meninx of spinal cord cancer" +MONDO:0011129 oboInOwl:hasExactSynonym "glaucoma 1C, primary open angle" MONDO:0007753 oboInOwl:hasExactSynonym "Baillarger syndrome" MONDO:0007753 oboInOwl:hasExactSynonym "gustatory hyperhidrosis" MONDO:0007753 oboInOwl:hasExactSynonym "Frey syndrome" @@ -95146,6 +95322,7 @@ MONDO:0013516 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation MONDO:0013516 oboInOwl:hasExactSynonym "RP60" http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP:0008207 oboInOwl:hasExactSynonym "Adrenocortical insufficiency" HP:0008207 oboInOwl:hasExactSynonym "Primary adrenocortical failure" +MONDO:0007940 oboInOwl:hasExactSynonym "malignant hyperthermia susceptibility 3" MONDO:0007940 oboInOwl:hasExactSynonym "malignant hyperthermia, susceptibility to, 3" MONDO:0007940 oboInOwl:hasExactSynonym "malignant hyperthermia, susceptibility to, type 3" MONDO:0005091 oboInOwl:hasExactSynonym "acute respiratory coronavirus infection" @@ -95182,6 +95359,7 @@ NCBITaxon:10335 oboInOwl:hasExactSynonym "Human herpes virus 3" http://purl.obol NCBITaxon:10335 oboInOwl:hasExactSynonym "varicella zoster virus VZV" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:10335 oboInOwl:hasExactSynonym "Varicella Zoster Virus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name MONDO:0015157 oboInOwl:hasExactSynonym "HHV-8-related disorder" +MONDO:0014248 oboInOwl:hasExactSynonym "arthrogryposis, impaired intellectual development, and seizures" MONDO:0014248 oboInOwl:hasExactSynonym "SLC35A3-CDG" MONDO:0013478 oboInOwl:hasExactSynonym "PLIN1-related FPLD" MONDO:0013478 oboInOwl:hasExactSynonym "FPLD4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -95205,6 +95383,7 @@ MONDO:0010799 oboInOwl:hasExactSynonym "aminoglycoside-induced deafness" MONDO:0010799 oboInOwl:hasExactSynonym "mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure" MONDO:0010799 oboInOwl:hasExactSynonym "streptomycin ototoxicity" MONDO:0010799 oboInOwl:hasExactSynonym "mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure" +MONDO:0010799 oboInOwl:hasExactSynonym "deafness, mitochondrial, modifier of, mitochondrial" MONDO:0010799 oboInOwl:hasExactSynonym "deafness, aminoglycoside-induced" MONDO:0013361 oboInOwl:hasExactSynonym "hereditary prothrombin deficiency" MONDO:0013361 oboInOwl:hasExactSynonym "Dysprothrombinemia" @@ -95217,11 +95396,14 @@ MONDO:0010975 oboInOwl:hasExactSynonym "familial arrhythmogenic right ventricula MONDO:0010975 oboInOwl:hasExactSynonym "arrhythmogenic right ventricular dysplasia type 2" MONDO:0010975 oboInOwl:hasExactSynonym "ARVC2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010975 oboInOwl:hasExactSynonym "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2" +MONDO:0100003 oboInOwl:hasExactSynonym "angioedema induced by ACE inhibitors, susceptibility to" MONDO:0015086 oboInOwl:hasExactSynonym "Benallegue-Lacete syndrome" MONDO:0025351 oboInOwl:hasExactSynonym "Linked syndrome" MONDO:0025351 oboInOwl:hasExactSynonym "MCAND" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0025351 oboInOwl:hasExactSynonym "multiple congenital anomalies-neurodevelopmental syndrome, X-linked, X-linked recessive" MONDO:0009095 oboInOwl:hasExactSynonym "dermatoosteolysis, Kirghizian type" MONDO:0015344 oboInOwl:hasExactSynonym "ATM/TM" +MONDO:0012466 oboInOwl:hasExactSynonym "Parkinson disease 13" MONDO:0012466 oboInOwl:hasExactSynonym "HTRA2 young-onset Parkinson disease" MONDO:0012466 oboInOwl:hasExactSynonym "young-onset Parkinson disease caused by mutation in HTRA2" MONDO:0012466 oboInOwl:hasExactSynonym "Parkinson disease 13, autosomal dominant, susceptibility to" @@ -95306,9 +95488,11 @@ MONDO:0021488 oboInOwl:hasExactSynonym "benign neoplasm of the lacrimal gland" MONDO:0021488 oboInOwl:hasExactSynonym "lacrimal gland benign neoplasm" MONDO:0009301 oboInOwl:hasExactSynonym "46,XY sex reversal 7" MONDO:0009301 oboInOwl:hasExactSynonym "46,XY Sex reversal type 7" +MONDO:0009301 oboInOwl:hasExactSynonym "46XY sex reversal 7" MONDO:0010578 oboInOwl:hasExactSynonym "deafness dystonia optic atrophy syndrome" MONDO:0010578 oboInOwl:hasExactSynonym "deafness dystonia optic neuronopathy syndrome" MONDO:0010578 oboInOwl:hasExactSynonym "dystonia deafness syndrome" +MONDO:0010578 oboInOwl:hasExactSynonym "Mohr-Tranebjaerg syndrome, X-linked recessive" MONDO:0010578 oboInOwl:hasExactSynonym "deafness dystonia optic neuronopathy syndrome (DDON)" MONDO:0010578 oboInOwl:hasExactSynonym "deafness dystonia syndrome" MONDO:0010578 oboInOwl:hasExactSynonym "deafness-dystonia-optic neuronopathy syndrome" @@ -95335,6 +95519,7 @@ MONDO:0006135 oboInOwl:hasExactSynonym "clear cell adenocarcinoma of the cervix" MONDO:0006135 oboInOwl:hasExactSynonym "clear cell adenocarcinoma of the cervix uteri" MONDO:0006135 oboInOwl:hasExactSynonym "clear cell adenocarcinoma of uterine cervix" MONDO:0006135 oboInOwl:hasExactSynonym "cervical clear cell carcinoma" +MONDO:0020643 oboInOwl:hasExactSynonym "autism susceptibility 1, isolated cases" MONDO:0020643 oboInOwl:hasExactSynonym "autism susceptibility 1" MONDO:0020643 oboInOwl:hasExactSynonym "AUTS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:1902106 oboInOwl:hasExactSynonym "downregulation of leukocyte differentiation" @@ -95370,6 +95555,7 @@ MONDO:0005397 oboInOwl:hasExactSynonym "Thyromegaly" MONDO:0004143 oboInOwl:hasExactSynonym "psammomatous meningioma (morphologic abnormality)" MONDO:0007366 oboInOwl:hasExactSynonym "KCNQ3 benign neonatal seizures" MONDO:0007366 oboInOwl:hasExactSynonym "seizures, benign familial neonatal, 2" +MONDO:0007366 oboInOwl:hasExactSynonym "seizures, benign neonatal, 2" MONDO:0007366 oboInOwl:hasExactSynonym "seizures, benign familial neonatal, type 2" MONDO:0007366 oboInOwl:hasExactSynonym "benign neonatal seizures caused by mutation in KCNQ3" MONDO:0006343 oboInOwl:hasExactSynonym "transitional cell carcinoma of the ovary" @@ -95402,6 +95588,7 @@ MONDO:0003834 oboInOwl:hasExactSynonym "gastric cardia cancer" MONDO:0003834 oboInOwl:hasExactSynonym "carcinoma of the cardia of the stomach" MONDO:0003834 oboInOwl:hasExactSynonym "carcinoma of the gastric cardia" MONDO:0003834 oboInOwl:hasExactSynonym "carcinoma of gastric cardia" +MONDO:0007576 oboInOwl:hasExactSynonym "esophageal squamous cell carcinoma, somatic" MONDO:0007576 oboInOwl:hasExactSynonym "malignant esophagus tumor" MONDO:0007576 oboInOwl:hasExactSynonym "esophageal cancer" MONDO:0007576 oboInOwl:hasExactSynonym "malignant neoplasm of the esophagus" @@ -95411,8 +95598,10 @@ MONDO:0007576 oboInOwl:hasExactSynonym "esophagus cancer" MONDO:0007576 oboInOwl:hasExactSynonym "malignant tumor of the esophagus" MONDO:0007576 oboInOwl:hasExactSynonym "malignant neoplasm of esophagus" MONDO:0007576 oboInOwl:hasExactSynonym "cancer of esophagus" +MONDO:0007576 oboInOwl:hasExactSynonym "esophageal carcinoma, somatic" MONDO:0007576 oboInOwl:hasExactSynonym "malignant tumor of esophagus" MONDO:0007576 oboInOwl:hasExactSynonym "malignant esophageal tumor" +MONDO:0007576 oboInOwl:hasExactSynonym "esophageal cancer, somatic" MONDO:0000507 oboInOwl:hasExactSynonym "pagetoid amyotrophic lateral sclerosis" MONDO:0000507 oboInOwl:hasExactSynonym "limb-girdle muscular dystrophy with Paget disease of bone" MONDO:0000507 oboInOwl:hasExactSynonym "IBMPFD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -95470,8 +95659,8 @@ MONDO:0005763 oboInOwl:hasExactSynonym "Flaviviridae caused disease or disorder" MONDO:0012069 oboInOwl:hasExactSynonym "KTCN3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012069 oboInOwl:hasExactSynonym "keratoconus 3" MONDO:0011299 oboInOwl:hasExactSynonym "Huntington-like neurodegenerative disorder 1" -MONDO:0011299 oboInOwl:hasExactSynonym "autosomal dominant Huntington-like neurodegenerative disorder" MONDO:0011299 oboInOwl:hasExactSynonym "Huntington disease-like 1" +MONDO:0011299 oboInOwl:hasExactSynonym "autosomal dominant Huntington-like neurodegenerative disorder" MONDO:0011299 oboInOwl:hasExactSynonym "neurodegenerative disease with chorea caused by mutation in PRNP" MONDO:0011299 oboInOwl:hasExactSynonym "HDL1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011299 oboInOwl:hasExactSynonym "early-onset prion disease with prominent psychiatric features" @@ -95479,15 +95668,17 @@ MONDO:0011299 oboInOwl:hasExactSynonym "PRNP neurodegenerative disease with chor MONDO:0011299 oboInOwl:hasExactSynonym "Huntington disease-like type 1" MONDO:0011299 oboInOwl:hasExactSynonym "HLN1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030454 oboInOwl:hasExactSynonym "JBTS39" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024564 oboInOwl:hasExactSynonym "cerebroretinal microangiopathy with calcifications and cysts 1" +MONDO:0024564 oboInOwl:hasExactSynonym "cerebroretinal microangiopathy with calcifications and cysts" MONDO:0024564 oboInOwl:hasExactSynonym "Coats plus syndrome caused by mutation in CTC1" MONDO:0024564 oboInOwl:hasExactSynonym "CTC1 Coats plus syndrome" +MONDO:0024564 oboInOwl:hasExactSynonym "cerebroretinal microangiopathy with calcifications and cysts 1" MONDO:0013011 oboInOwl:hasExactSynonym "ACTC1 atrial heart septal defect" MONDO:0013011 oboInOwl:hasExactSynonym "atrial septal defect 5" MONDO:0013011 oboInOwl:hasExactSynonym "ASD5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013011 oboInOwl:hasExactSynonym "atrial heart septal defect type 5" MONDO:0013011 oboInOwl:hasExactSynonym "atrial heart septal defect caused by mutation in ACTC1" MONDO:0013011 oboInOwl:hasExactSynonym "atrial septal defect type 5" +MONDO:0012631 oboInOwl:hasExactSynonym "Alzheimer disease-14" MONDO:0012631 oboInOwl:hasExactSynonym "Alzheimer's disease type 14" MONDO:0012631 oboInOwl:hasExactSynonym "Alzheimer's disease 14" MONDO:0012631 oboInOwl:hasExactSynonym "Alzheimer disease 14" @@ -95502,6 +95693,7 @@ MONDO:0034024 oboInOwl:hasExactSynonym "EDS VI" http://purl.obolibrary.org/obo/m ENVO:01001091 oboInOwl:hasExactSynonym "formation of a liquid aerosol in an atmosphere" ENVO:01001091 oboInOwl:hasExactSynonym "atmospheric formation of a liquid aerosol" ENVO:01001091 oboInOwl:hasExactSynonym "formation of a liquid aerosol in the atmosphere" +MONDO:0010287 oboInOwl:hasExactSynonym "spastic paraplegia 16, X-linked, complicated, X-linked recessive" MONDO:0010287 oboInOwl:hasExactSynonym "SPG16" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010287 oboInOwl:hasExactSynonym "hereditary spastic paraplegia type 16" MONDO:0010287 oboInOwl:hasExactSynonym "X-linked spastic paraplegia 16" @@ -95534,6 +95726,7 @@ MONDO:0011925 oboInOwl:hasExactSynonym "muscular dystrophy, congenital merosin-d MONDO:0011925 oboInOwl:hasExactSynonym "merosin-deficient congenital muscular dystrophy type 1A" MONDO:0011925 oboInOwl:hasExactSynonym "LAMA2 congenital muscular dystrophy" MONDO:0011925 oboInOwl:hasExactSynonym "MDC1A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011925 oboInOwl:hasExactSynonym "muscular dystrophy, congenital, merosin deficient or partially deficient" MONDO:0011925 oboInOwl:hasExactSynonym "merosin-negative congenital muscular dystrophy" MONDO:0011502 oboInOwl:hasExactSynonym "CISD2 Wolfram syndrome" MONDO:0011502 oboInOwl:hasExactSynonym "WFS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -95547,12 +95740,14 @@ MONDO:0018769 oboInOwl:hasExactSynonym "Isosporosis" MONDO:0018769 oboInOwl:hasExactSynonym "Cystoisospora belli disease or disorder" MONDO:0018769 oboInOwl:hasExactSynonym "Cystoisospora belli caused disease or disorder" MONDO:0018769 oboInOwl:hasExactSynonym "cystoisosporiasis" +MONDO:0010743 oboInOwl:hasExactSynonym "thrombocytopenia, X-linked, X-linked recessive" +MONDO:0010743 oboInOwl:hasExactSynonym "thrombocytopenia, X-linked, intermittent, X-linked recessive" MONDO:0010743 oboInOwl:hasExactSynonym "thrombocytopenia type 1" MONDO:0010743 oboInOwl:hasExactSynonym "X-linked thrombocytopenia with normal platelets" MONDO:0010743 oboInOwl:hasExactSynonym "thrombocytopenia 1" MONDO:0100255 oboInOwl:hasExactSynonym "ADK hypermethioninemia" -MONDO:0100255 oboInOwl:hasExactSynonym "hypermethioninemia due to adenosine kinase deficiency" MONDO:0100255 oboInOwl:hasExactSynonym "hypermethioninemia encephalopathy due to adenosine kinase deficiency" +MONDO:0100255 oboInOwl:hasExactSynonym "hypermethioninemia due to adenosine kinase deficiency" MONDO:0100255 oboInOwl:hasExactSynonym "ADK deficiency" MONDO:0100255 oboInOwl:hasExactSynonym "autosomal recessive intellectual disability 8" MONDO:0100255 oboInOwl:hasExactSynonym "autosomal recessive mental retardation 8" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -95621,10 +95816,11 @@ MONDO:0002424 oboInOwl:hasExactSynonym "rectosigmoid carcinoma" MONDO:0002424 oboInOwl:hasExactSynonym "rectosigmoid junction carcinoma" MONDO:0016787 oboInOwl:hasExactSynonym "epithelioid trophoblastic tumor" MONDO:0017733 oboInOwl:hasExactSynonym "lysosomal alpha-D-mannosidase deficiency, adult form" -MONDO:0007240 oboInOwl:hasExactSynonym "PFHB1A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007240 oboInOwl:hasExactSynonym "progressive familial heart block caused by mutation in SCN5A" -MONDO:0007240 oboInOwl:hasExactSynonym "progressive familial heart block, type IA" MONDO:0007240 oboInOwl:hasExactSynonym "SCN5A progressive familial heart block" +MONDO:0007240 oboInOwl:hasExactSynonym "progressive familial heart block, type IA" +MONDO:0007240 oboInOwl:hasExactSynonym "heart block, progressive, type IA" +MONDO:0007240 oboInOwl:hasExactSynonym "PFHB1A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007240 oboInOwl:hasExactSynonym "Lenegre's disease" MONDO:0006823 oboInOwl:hasExactSynonym "Klinefelter's syndrome" MONDO:0006823 oboInOwl:hasExactSynonym "XXY syndrome (Klinefelter syndrome)" @@ -95648,6 +95844,7 @@ MONDO:0007568 oboInOwl:hasExactSynonym "aortic aneurysm, familial thoracic 4" MONDO:0007568 oboInOwl:hasExactSynonym "MYH11 familial thoracic aortic aneurysm and aortic dissection" MONDO:0007568 oboInOwl:hasExactSynonym "aortic aneurysm, familial thoracic type 4" MONDO:0008272 oboInOwl:hasExactSynonym "preaxial polydactyly type 4" +MONDO:0008272 oboInOwl:hasExactSynonym "polydactyly, preaxial, type IV" MONDO:0008272 oboInOwl:hasExactSynonym "polydactyly, preaxial type 4" MONDO:0008272 oboInOwl:hasExactSynonym "PPD4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:29101 oboInOwl:hasExactSynonym "sodium(1+)" @@ -95657,6 +95854,7 @@ CHEBI:29101 oboInOwl:hasExactSynonym "sodium cation" MONDO:0004865 oboInOwl:hasExactSynonym "acute mucoid otitis media" MONDO:0004865 oboInOwl:hasExactSynonym "blue drum syndrome" MONDO:0060733 oboInOwl:hasExactSynonym "humerofemoral hypoplasia with radiotibial ray deficiency" +MONDO:0010452 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 90, X-linked recessive" MONDO:0010452 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 90" MONDO:0010452 oboInOwl:hasExactSynonym "DLG3 non-syndromic X-linked intellectual disability" MONDO:0010452 oboInOwl:hasExactSynonym "intellectual disability, X-linked 90" @@ -95690,8 +95888,8 @@ MONDO:0020853 oboInOwl:hasExactSynonym "MMERV" http://purl.obolibrary.org/obo/mo MONDO:0020853 oboInOwl:hasExactSynonym "Encephalitis/encephalopathy, mild, with reversible splenial lesion" MONDO:0015149 oboInOwl:hasExactSynonym "Pure HSP" MONDO:0015149 oboInOwl:hasExactSynonym "uncomplicated SPG" -MONDO:0015149 oboInOwl:hasExactSynonym "Pure SPG" MONDO:0015149 oboInOwl:hasExactSynonym "uncomplicated HSP" +MONDO:0015149 oboInOwl:hasExactSynonym "Pure SPG" MONDO:0015149 oboInOwl:hasExactSynonym "Pure familial spastic paraplegia" MONDO:0015149 oboInOwl:hasExactSynonym "uncomplicated hereditary spastic paraplegia" MONDO:0015149 oboInOwl:hasExactSynonym "uncomplicated familial spastic paraplegia" @@ -95710,10 +95908,11 @@ MONDO:0016262 oboInOwl:hasExactSynonym "leiomyosarcoma of uterine corpus" MONDO:0016262 oboInOwl:hasExactSynonym "leiomyosarcoma of the uterine corpus" MONDO:0016262 oboInOwl:hasExactSynonym "leiomyosarcoma of corpus uteri" MONDO:0016262 oboInOwl:hasExactSynonym "leiomyosarcoma of the uterus" -MONDO:0010745 oboInOwl:hasExactSynonym "X-linked thrombocytopenia with Beta-thalassemia" -MONDO:0010745 oboInOwl:hasExactSynonym "XLTT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION PATO:0000627 oboInOwl:hasExactSynonym "localised" PATO:0000627 oboInOwl:hasExactSynonym "focal" +MONDO:0010745 oboInOwl:hasExactSynonym "X-linked thrombocytopenia with Beta-thalassemia" +MONDO:0010745 oboInOwl:hasExactSynonym "XLTT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010745 oboInOwl:hasExactSynonym "thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive" MONDO:0013213 oboInOwl:hasExactSynonym "hearing loss, cisplatin-induced, susceptibility to" MONDO:0013213 oboInOwl:hasExactSynonym "CIHL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008869 oboInOwl:hasExactSynonym "microcephalic primordial dwarfism I" @@ -95729,10 +95928,11 @@ MONDO:0009815 oboInOwl:hasExactSynonym "infantile malignant osteopetrosis 1" MONDO:0009815 oboInOwl:hasExactSynonym "autosomal recessive osteopetrosis type 1" MONDO:0009815 oboInOwl:hasExactSynonym "TCIRG1 autosomal recessive osteopetrosis" MONDO:0009815 oboInOwl:hasExactSynonym "OPTB1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009815 oboInOwl:hasExactSynonym "osteopetrosis, autosomal recessive type 1" MONDO:0009815 oboInOwl:hasExactSynonym "autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1" MONDO:0009815 oboInOwl:hasExactSynonym "TCIRG1 autosomal recessive malignant osteopetrosis" +MONDO:0009815 oboInOwl:hasExactSynonym "osteopetrosis, autosomal recessive type 1" MONDO:0009815 oboInOwl:hasExactSynonym "autosomal recessive osteopetrosis 1" +GO:1901860 oboInOwl:hasExactSynonym "up-regulation of mitochondrial DNA metabolic process" GO:1901860 oboInOwl:hasExactSynonym "upregulation of mitochondrial DNA metabolic process" GO:1901860 oboInOwl:hasExactSynonym "up-regulation of mtDNA metabolic process" GO:1901860 oboInOwl:hasExactSynonym "activation of mitochondrial DNA metabolism" @@ -95749,7 +95949,6 @@ GO:1901860 oboInOwl:hasExactSynonym "upregulation of mtDNA metabolic process" GO:1901860 oboInOwl:hasExactSynonym "upregulation of mitochondrial DNA metabolism" GO:1901860 oboInOwl:hasExactSynonym "positive regulation of mitochondrial DNA metabolism" GO:1901860 oboInOwl:hasExactSynonym "up regulation of mtDNA metabolic process" -GO:1901860 oboInOwl:hasExactSynonym "up-regulation of mitochondrial DNA metabolic process" GO:1901860 oboInOwl:hasExactSynonym "activation of mtDNA metabolism" MONDO:0100420 oboInOwl:hasExactSynonym "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation" MONDO:0100420 oboInOwl:hasExactSynonym "AML, CD117 Gene Mutation" @@ -95770,6 +95969,7 @@ MONDO:0013400 oboInOwl:hasExactSynonym "XY sex reversal-adrenal failure syndrome MONDO:0013400 oboInOwl:hasExactSynonym "adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete" MONDO:0013400 oboInOwl:hasExactSynonym "p450scc deficiency" MONDO:0013400 oboInOwl:hasExactSynonym "cholesterol side-chain cleavage deficiency" +MONDO:0013400 oboInOwl:hasExactSynonym "adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete" MONDO:0013400 oboInOwl:hasExactSynonym "XY sex reversal-adrenal failure" MONDO:0036688 oboInOwl:hasExactSynonym "Rhabdomyomatous neoplasm" MONDO:0036688 oboInOwl:hasExactSynonym "rhabdomyoma, benign" @@ -95867,6 +96067,7 @@ MONDO:0014199 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantil MONDO:0014199 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in GNAO1" MONDO:0014199 oboInOwl:hasExactSynonym "DEE17" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014199 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 17" +MONDO:0014199 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 17" MONDO:0014199 oboInOwl:hasExactSynonym "GNAO1 early infantile epileptic encephalopathy" MONDO:0014199 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy-17" MONDO:0009145 oboInOwl:hasExactSynonym "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome" @@ -95890,6 +96091,7 @@ MONDO:0012883 oboInOwl:hasExactSynonym "AML with t(15;17)(q22;q12)" MONDO:0012883 oboInOwl:hasExactSynonym "AML M3" MONDO:0012883 oboInOwl:hasExactSynonym "APL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012883 oboInOwl:hasExactSynonym "acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara" +MONDO:0012883 oboInOwl:hasExactSynonym "leukemia, acute promyelocytic, somatic" MONDO:0012883 oboInOwl:hasExactSynonym "acute myeloblastic leukemia type 3" MONDO:0012883 oboInOwl:hasExactSynonym "APML - acute promyelocytic leukemia" MONDO:0012883 oboInOwl:hasExactSynonym "acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants" @@ -95905,6 +96107,7 @@ MONDO:0012883 oboInOwl:hasExactSynonym "acute promyelocytic leukemia with PML-ra MONDO:0010619 oboInOwl:hasExactSynonym "X-linked hereditary hypophosphatemic rickets" MONDO:0010619 oboInOwl:hasExactSynonym "vitamin D-resistant rickets, X-linked" MONDO:0010619 oboInOwl:hasExactSynonym "XLH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010619 oboInOwl:hasExactSynonym "hypophosphatemic rickets, X-linked dominant, X-linked dominant" MONDO:0010619 oboInOwl:hasExactSynonym "X-linked hypophosphatemia" MONDO:0010619 oboInOwl:hasExactSynonym "rickets, vitamin D-resistant" MONDO:0010619 oboInOwl:hasExactSynonym "hypophosphatemia, vitamin D-resistant rickets" @@ -95996,6 +96199,7 @@ MONDO:0003649 oboInOwl:hasExactSynonym "esophageal neuroendocrine tumor" MONDO:0032895 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83" MONDO:0032895 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 83" MONDO:0032895 oboInOwl:hasExactSynonym "DEE83" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032895 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 83" MONDO:0032895 oboInOwl:hasExactSynonym "EIEE83" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0006849 oboInOwl:hasExactSynonym "inflammation of breast" MONDO:0006849 oboInOwl:hasExactSynonym "breast infection" @@ -96025,6 +96229,7 @@ GO:1904252 oboInOwl:hasExactSynonym "down-regulation of bile acid metabolism" GO:1904252 oboInOwl:hasExactSynonym "negative regulation of bile acid metabolism" GO:1904252 oboInOwl:hasExactSynonym "down-regulation of bile acid metabolic process" MONDO:0010483 oboInOwl:hasExactSynonym "mental retardation, X-linked type 98" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010483 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 98, X-linked dominant" MONDO:0010483 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 98" GO:0032351 oboInOwl:hasExactSynonym "downregulation of hormone metabolic process" GO:0032351 oboInOwl:hasExactSynonym "negative regulation of hormone metabolism" @@ -96076,6 +96281,7 @@ MONDO:0014942 oboInOwl:hasExactSynonym "DEE45" http://purl.obolibrary.org/obo/mo MONDO:0014942 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 45; EIEE45" MONDO:0014942 oboInOwl:hasExactSynonym "GABRB1 early infantile epileptic encephalopathy" MONDO:0014942 oboInOwl:hasExactSynonym "EIEE45" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014942 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 45" MONDO:0014942 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 45" MONDO:0010901 oboInOwl:hasExactSynonym "HEC syndrome" MONDO:0010901 oboInOwl:hasExactSynonym "hydrocephalus-endocardial fibroelastosis-cataract syndrome" @@ -96103,6 +96309,7 @@ MONDO:0003124 oboInOwl:hasExactSynonym "Leydig cell neoplasm of the testis" MONDO:0003124 oboInOwl:hasExactSynonym "Leydig cell tumor of testis" MONDO:0003124 oboInOwl:hasExactSynonym "Leydig cell neoplasm of testis" MONDO:0008368 oboInOwl:hasExactSynonym "distal renal tubular acidosis (disease), autosomal dominant" +MONDO:0008368 oboInOwl:hasExactSynonym "distal renal tubular acidosis 1" MONDO:0008368 oboInOwl:hasExactSynonym "AD dRTA" MONDO:0008368 oboInOwl:hasExactSynonym "autosomal dominant distal renal tubular acidosis (disease)" MONDO:0006281 oboInOwl:hasExactSynonym "lung signet ring cell carcinoma" @@ -96118,6 +96325,7 @@ MONDO:0007492 oboInOwl:hasExactSynonym "EOTD" http://purl.obolibrary.org/obo/mon MONDO:0007492 oboInOwl:hasExactSynonym "idiopathic torsion dystonia" MONDO:0007492 oboInOwl:hasExactSynonym "DYT-TOR1A" MONDO:0007492 oboInOwl:hasExactSynonym "idiopathic dystonia" +MONDO:0007492 oboInOwl:hasExactSynonym "dystonia-1, torsion" MONDO:0007492 oboInOwl:hasExactSynonym "dystonia musculorum deformans" MONDO:0007492 oboInOwl:hasExactSynonym "early-onset generalized limb-onset dystonia" MONDO:0007492 oboInOwl:hasExactSynonym "DYT1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -96135,6 +96343,7 @@ MONDO:0006500 oboInOwl:hasExactSynonym "hemangioma" MONDO:0009310 oboInOwl:hasExactSynonym "NCF2 chronic granulomatous disease" MONDO:0009310 oboInOwl:hasExactSynonym "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2" MONDO:0009310 oboInOwl:hasExactSynonym "chronic granulomatous disease caused by mutation in NCF2" +MONDO:0009310 oboInOwl:hasExactSynonym "chronic granulomatous disease 2, autosomal recessive" GO:0050976 oboInOwl:hasExactSynonym "perception of touch, sensory detection of mechanical stimulus" GO:0050976 oboInOwl:hasExactSynonym "perception of touch, detection of mechanical stimulus" GO:0050976 oboInOwl:hasExactSynonym "sensory detection of mechanical stimulus during perception of touch" @@ -96163,6 +96372,8 @@ HP:0001644 oboInOwl:hasExactSynonym "Cardiomyopathy, dilated" HP:0001644 oboInOwl:hasExactSynonym "DCM" http://purl.obolibrary.org/obo/hp.obo#abbreviation HP:0001644 oboInOwl:hasExactSynonym "Congestive cardiomyopathy" HP:0001644 oboInOwl:hasExactSynonym "Stretched and thinned heart muscle" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0011191 oboInOwl:hasExactSynonym "hemangioma, capillary infantile, susceptibility to" +MONDO:0011191 oboInOwl:hasExactSynonym "hemangioma, capillary infantile, somatic" MONDO:0017703 oboInOwl:hasExactSynonym "disorder of glyoxylate metabolism" MONDO:0020151 oboInOwl:hasExactSynonym "rare eyelid disease" MONDO:0043277 oboInOwl:hasExactSynonym "trisomy 6" @@ -96177,6 +96388,7 @@ MONDO:0013656 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant t MONDO:0013656 oboInOwl:hasExactSynonym "autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A" MONDO:0013656 oboInOwl:hasExactSynonym "autosomal dominant mental retardation 9" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0013656 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant type 9" +MONDO:0013656 oboInOwl:hasExactSynonym "NESCAV syndrome" MONDO:0013656 oboInOwl:hasExactSynonym "MRD9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013656 oboInOwl:hasExactSynonym "KIF1A autosomal dominant non-syndromic intellectual disability" MONDO:0013656 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant 9" @@ -96190,6 +96402,7 @@ MONDO:0014867 oboInOwl:hasExactSynonym "spinocerebellar ataxia 43; SCA43" MONDO:0014867 oboInOwl:hasExactSynonym "spinocerebellar ataxia 43" MONDO:0014867 oboInOwl:hasExactSynonym "SCA43" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014867 oboInOwl:hasExactSynonym "autosomal dominant cerebellar ataxia caused by mutation in MME" +MONDO:0008930 oboInOwl:hasExactSynonym "celiac disease, susceptibility to" MONDO:0008930 oboInOwl:hasExactSynonym "celiac disease, susceptibility to, 1" MONDO:0008930 oboInOwl:hasExactSynonym "celiac disease, susceptibility to, type 1" HP:0000632 oboInOwl:hasExactSynonym "Abnormality of tear production" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -96234,6 +96447,7 @@ MONDO:0005092 oboInOwl:hasExactSynonym "signet ring carcinoma NOS (morphologic a MONDO:0005092 oboInOwl:hasExactSynonym "signet ring cell carcinoma" MONDO:0005092 oboInOwl:hasExactSynonym "signet ring carcinoma" MONDO:0009683 oboInOwl:hasExactSynonym "LGMD2H" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009683 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal recessive 8" MONDO:0009683 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy type 2H" MONDO:0009683 oboInOwl:hasExactSynonym "TRIM32 autosomal recessive limb-girdle muscular dystrophy" MONDO:0009683 oboInOwl:hasExactSynonym "Sarcotubular myopathy" @@ -96382,9 +96596,11 @@ MONDO:0013175 oboInOwl:hasExactSynonym "retinitis pigmentosa 50" MONDO:0013175 oboInOwl:hasExactSynonym "RP50" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013175 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation in BEST1" MONDO:0013175 oboInOwl:hasExactSynonym "retinitis pigmentosa type 50" +MONDO:0013175 oboInOwl:hasExactSynonym "retinitis pigmentosa-50" MONDO:0013175 oboInOwl:hasExactSynonym "BEST1 retinitis pigmentosa" MONDO:0014121 oboInOwl:hasExactSynonym "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures" MONDO:0014121 oboInOwl:hasExactSynonym "SMALED2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014121 oboInOwl:hasExactSynonym "spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant" GO:0034760 oboInOwl:hasExactSynonym "negative regulation of transmembrane iron ion transport" GO:0034760 oboInOwl:hasExactSynonym "negative regulation of iron ion membrane transport" GO:0034760 oboInOwl:hasExactSynonym "downregulation of transmembrane iron ion transport" @@ -96394,6 +96610,7 @@ GO:0034760 oboInOwl:hasExactSynonym "down-regulation of transmembrane iron ion t MONDO:0002804 oboInOwl:hasExactSynonym "tubular apocrine adenoma" MONDO:0030455 oboInOwl:hasExactSynonym "DYT31" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008774 oboInOwl:hasExactSynonym "2-aminoadipic 2-oxoadipic aciduria" +MONDO:0008774 oboInOwl:hasExactSynonym "alpha-aminoadipic and alpha-ketoadipic aciduria" MONDO:0008774 oboInOwl:hasExactSynonym "alpha-aminoadipic aciduria" MONDO:0008774 oboInOwl:hasExactSynonym "Ketoadipicaciduria" MONDO:0008774 oboInOwl:hasExactSynonym "AMOXAD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -96424,6 +96641,7 @@ MONDO:0000591 oboInOwl:hasExactSynonym "intrinsic cardiomyopathy" MONDO:0000591 oboInOwl:hasExactSynonym "primary cardiomyopathy" MONDO:0009720 oboInOwl:hasExactSynonym "Keipert syndrome" MONDO:0009720 oboInOwl:hasExactSynonym "nasodigitoacoustic syndrome" +MONDO:0009720 oboInOwl:hasExactSynonym "Keipert syndrome, X-linked recessive" MONDO:0009720 oboInOwl:hasExactSynonym "nasodigitoacoustic syndrome, formerly" MONDO:0009720 oboInOwl:hasExactSynonym "KPTS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013012 oboInOwl:hasExactSynonym "IBD27" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -96604,8 +96822,8 @@ MONDO:0016098 oboInOwl:hasExactSynonym "IMNM" http://purl.obolibrary.org/obo/mon GO:0050968 oboInOwl:hasExactSynonym "perception of pain, detection of chemical stimulus" GO:0050968 oboInOwl:hasExactSynonym "sensory transduction of chemical stimulus during perception of pain" GO:0050968 oboInOwl:hasExactSynonym "sensory detection of chemical stimulus during perception of pain" -GO:0050968 oboInOwl:hasExactSynonym "perception of pain, sensory detection of chemical stimulus" GO:0050968 oboInOwl:hasExactSynonym "perception of pain, sensory transduction of chemical stimulus" +GO:0050968 oboInOwl:hasExactSynonym "perception of pain, sensory detection of chemical stimulus" MONDO:0000625 oboInOwl:hasExactSynonym "male reproductive organ benign neoplasm" MONDO:0000625 oboInOwl:hasExactSynonym "benign Male reproductive system tumor" MONDO:0000625 oboInOwl:hasExactSynonym "benign Male reproductive system neoplasm" @@ -96690,6 +96908,7 @@ MONDO:0001843 oboInOwl:hasExactSynonym "intramural leiomyoma of uterus" MONDO:0000918 oboInOwl:hasExactSynonym "uterine infection" MONDO:0000918 oboInOwl:hasExactSynonym "endometrium inflammation" MONDO:0000918 oboInOwl:hasExactSynonym "inflammation of endometrium" +MONDO:0007746 oboInOwl:hasExactSynonym "orthostatic hypotensive disorder of Streeten" MONDO:0007746 oboInOwl:hasExactSynonym "orthostatic hypotensive disorder, Streeten type" MONDO:0015347 oboInOwl:hasExactSynonym "lipoid dermatoarthritis" MONDO:0015347 oboInOwl:hasExactSynonym "multicentric reticulohistiocytosis" @@ -96716,6 +96935,7 @@ MONDO:0002271 oboInOwl:hasExactSynonym "colonic adenocarcinoma" MONDO:0002271 oboInOwl:hasExactSynonym "colon adenocarcinoma" MONDO:0010453 oboInOwl:hasExactSynonym "MRX92" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010453 oboInOwl:hasExactSynonym "intellectual disability, X-linked 92" +MONDO:0010453 oboInOwl:hasExactSynonym "mental retardation, X-linked 92, X-linked recessive" MONDO:0024415 oboInOwl:hasExactSynonym "hemorrhagic duodenitis" MONDO:0019297 oboInOwl:hasExactSynonym "lymphatic edema (morphologic abnormality)" MONDO:0019297 oboInOwl:hasExactSynonym "lymphatic edema" @@ -96736,8 +96956,10 @@ MONDO:0011894 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2E" MONDO:0011894 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL" MONDO:0011894 oboInOwl:hasExactSynonym "CMT2E" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011894 oboInOwl:hasExactSynonym "autosomal dominant Charcot-Marie-Tooth disease type 2E" +MONDO:0011894 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 2E" MONDO:0011894 oboInOwl:hasExactSynonym "NEFL Charcot-Marie-Tooth disease type 2" MONDO:0010640 oboInOwl:hasExactSynonym "Leber optic atrophy, susceptibility to" +MONDO:0010640 oboInOwl:hasExactSynonym "Leber hereditary optic neuropathy, modifier of, X-linked dominant" MONDO:0007804 oboInOwl:hasExactSynonym "PHS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007804 oboInOwl:hasExactSynonym "Pallister Hall syndrome" MONDO:0007804 oboInOwl:hasExactSynonym "Pallister-Hall syndrome" @@ -96766,9 +96988,11 @@ MONDO:0004866 oboInOwl:hasExactSynonym "disease or disorder of pharyngotympanic MONDO:0004866 oboInOwl:hasExactSynonym "eustachian tube disorder" MONDO:0004866 oboInOwl:hasExactSynonym "disorder of pharyngotympanic tube" MONDO:0004866 oboInOwl:hasExactSynonym "pharyngotympanic tube disease" +MONDO:0013214 oboInOwl:hasExactSynonym "Bile acid malabsorption, primary, 1" MONDO:0013214 oboInOwl:hasExactSynonym "bile acid malabsorption, primary" MONDO:0002646 oboInOwl:hasExactSynonym "Viruses laryngitis" MONDO:0002646 oboInOwl:hasExactSynonym "Viruses caused laryngitis" +MONDO:0011926 oboInOwl:hasExactSynonym "psoriasis susceptibility 9" MONDO:0011926 oboInOwl:hasExactSynonym "psoriasis 9, susceptibility to" MONDO:0011926 oboInOwl:hasExactSynonym "PSORS9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0007267 oboInOwl:hasExactSynonym "cell-cell signalling" @@ -96867,6 +97091,7 @@ MONDO:0019967 oboInOwl:hasExactSynonym "osteochondritis of the lunate bone" MONDO:0019967 oboInOwl:hasExactSynonym "aseptic necrosis of the lunate bone" MONDO:0019967 oboInOwl:hasExactSynonym "Lunatomalacia" HP:0045084 oboInOwl:hasExactSynonym "Myoclonus of limbs" +MONDO:0011326 oboInOwl:hasExactSynonym "citrullinemia, adult-onset type II" MONDO:0011326 oboInOwl:hasExactSynonym "citrullinemia, type II, adult-onset" MONDO:0012884 oboInOwl:hasExactSynonym "systemic lupus erythematosus, susceptibility to, 13" MONDO:0012884 oboInOwl:hasExactSynonym "SLEB13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -96874,10 +97099,11 @@ GO:0051345 oboInOwl:hasExactSynonym "up-regulation of hydrolase activity" GO:0051345 oboInOwl:hasExactSynonym "hydrolase activator" GO:0051345 oboInOwl:hasExactSynonym "upregulation of hydrolase activity" GO:0051345 oboInOwl:hasExactSynonym "up regulation of hydrolase activity" +MONDO:0030852 oboInOwl:hasExactSynonym "neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities" MONDO:0030852 oboInOwl:hasExactSynonym "NEDFASB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001269 oboInOwl:hasExactSynonym "sclera disease" -MONDO:0001269 oboInOwl:hasExactSynonym "disease of sclera" MONDO:0001269 oboInOwl:hasExactSynonym "sclera disease or disorder" +MONDO:0001269 oboInOwl:hasExactSynonym "disease of sclera" MONDO:0001269 oboInOwl:hasExactSynonym "scleral disorder" MONDO:0001269 oboInOwl:hasExactSynonym "sclera disorder" MONDO:0001269 oboInOwl:hasExactSynonym "disorder of sclera" @@ -96907,7 +97133,9 @@ MONDO:0004645 oboInOwl:hasExactSynonym "malignant tumor of buccal mucosa" MONDO:0004645 oboInOwl:hasExactSynonym "malignant tumor of the buccal mucosa" MONDO:0004645 oboInOwl:hasExactSynonym "buccal mucosa cancer" MONDO:0004645 oboInOwl:hasExactSynonym "cancer of buccal mucosa" +MONDO:0010232 oboInOwl:hasExactSynonym "intestinal pseudoobstruction, neuronal, X-linked recessive" MONDO:0010232 oboInOwl:hasExactSynonym "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked" +MONDO:0010232 oboInOwl:hasExactSynonym "congenital short bowel syndrome, X-linked recessive" MONDO:0001479 oboInOwl:hasExactSynonym "cutaneous diphtheria" MONDO:0000225 oboInOwl:hasExactSynonym "human ehrlichiosis due to Ehrlichia chaffeensis" NCBITaxon:89593 oboInOwl:hasExactSynonym "Craniata" http://purl.obolibrary.org/obo/ncbitaxon#scientific_name @@ -96921,6 +97149,7 @@ MONDO:0002425 oboInOwl:hasExactSynonym "malignant rectosigmoid neoplasm" MONDO:0002425 oboInOwl:hasExactSynonym "malignant neoplasm of rectosigmoid" MONDO:0002425 oboInOwl:hasExactSynonym "malignant rectosigmoid tumor" MONDO:0002425 oboInOwl:hasExactSynonym "malignant neoplasm of the rectosigmoid junction" +MONDO:0010314 oboInOwl:hasExactSynonym "polymicrogyria, bilateral perisylvian, X-linked dominant" MONDO:0010314 oboInOwl:hasExactSynonym "BPPX" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010314 oboInOwl:hasExactSynonym "polymicrogyria, bilateral perisylvian, X-linked" MONDO:0014130 oboInOwl:hasExactSynonym "POFUT1 Dowling-Degos disease" @@ -96997,18 +97226,20 @@ HP:0012757 oboInOwl:hasExactSynonym "Abnormal neuron shape" http://purl.obolibra GO:2001212 oboInOwl:hasExactSynonym "regulation of vascular morphogenesis" PATO:0000964 oboInOwl:hasExactSynonym "hyaline" PATO:0000964 oboInOwl:hasExactSynonym "clear" -GO:0060271 oboInOwl:hasExactSynonym "microtubule-based flagellum assembly" -GO:0060271 oboInOwl:hasExactSynonym "ciliogenesis" -GO:0060271 oboInOwl:hasExactSynonym "cilium assembly" -GO:0060271 oboInOwl:hasExactSynonym "cilium formation" MONDO:0012476 oboInOwl:hasExactSynonym "hereditary spastic paraplegia caused by mutation in KIF1A" +MONDO:0012476 oboInOwl:hasExactSynonym "spastic paraplegia 30, autosomal dominant" MONDO:0012476 oboInOwl:hasExactSynonym "autosomal recessive spastic paraplegia 30" MONDO:0012476 oboInOwl:hasExactSynonym "SPG30" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012476 oboInOwl:hasExactSynonym "autosomal spastic paraplegia type 30" MONDO:0012476 oboInOwl:hasExactSynonym "hereditary spastic paraplegia type 30" MONDO:0012476 oboInOwl:hasExactSynonym "KIF1A hereditary spastic paraplegia" MONDO:0011222 oboInOwl:hasExactSynonym "GLC1D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011222 oboInOwl:hasExactSynonym "glaucoma 1D, primary open angle" MONDO:0011222 oboInOwl:hasExactSynonym "glaucoma 1, open angle, D" +GO:0060271 oboInOwl:hasExactSynonym "microtubule-based flagellum assembly" +GO:0060271 oboInOwl:hasExactSynonym "ciliogenesis" +GO:0060271 oboInOwl:hasExactSynonym "cilium assembly" +GO:0060271 oboInOwl:hasExactSynonym "cilium formation" MONDO:0014445 oboInOwl:hasExactSynonym "Bardet-Biedl syndrome type 17" MONDO:0014445 oboInOwl:hasExactSynonym "Bardet-Biedl syndrome 17" MONDO:0014445 oboInOwl:hasExactSynonym "LZTFL1 Bardet-Biedl syndrome" @@ -97018,6 +97249,7 @@ MONDO:0030925 oboInOwl:hasExactSynonym "oocyte maturation defect 10" MONDO:0030925 oboInOwl:hasExactSynonym "OOMD10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP:0000737 oboInOwl:hasExactSynonym "Irritable" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0000737 oboInOwl:hasExactSynonym "Irritability" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0044276 oboInOwl:hasExactSynonym "skin/hair/eye pigmentation, variation in, 11 (melanesian blond hair)" GO:0032352 oboInOwl:hasExactSynonym "positive regulation of hormone metabolism" GO:0032352 oboInOwl:hasExactSynonym "up-regulation of hormone metabolic process" GO:0032352 oboInOwl:hasExactSynonym "upregulation of hormone metabolic process" @@ -97042,6 +97274,7 @@ HP:0010975 oboInOwl:hasExactSynonym "Abnormal numbers of B cells" HP:0010975 oboInOwl:hasExactSynonym "Abnormal number of B cells" HP:0010975 oboInOwl:hasExactSynonym "Abnormality of B cell count" MONDO:0012663 oboInOwl:hasExactSynonym "Plasmodium falciparum fever episodes quantitative trait locus type 1" +MONDO:0012663 oboInOwl:hasExactSynonym "plasmodium falciparum fever episodes QTL1" MONDO:0012663 oboInOwl:hasExactSynonym "Plasmodium falciparum fever episodes quantitative trait locus 1" MONDO:0019444 oboInOwl:hasExactSynonym "trichinosis" HP:0100306 oboInOwl:hasExactSynonym "Muscle fibre hyaline bodies" http://purl.obolibrary.org/obo/hp.obo#uk_spelling @@ -97113,12 +97346,14 @@ MONDO:0005555 oboInOwl:hasExactSynonym "cycloplegia" MONDO:0005555 oboInOwl:hasExactSynonym "ciliary muscle paresis" MONDO:0005555 oboInOwl:hasExactSynonym "paresis of accommodation" MONDO:0007755 oboInOwl:hasExactSynonym "hyperimmunoglobulin G1(A1) syndrome" +MONDO:0007755 oboInOwl:hasExactSynonym "hyperimmunoglobulin G1 syndrome" MONDO:0009311 oboInOwl:hasExactSynonym "grouped pigmentation of the retina" MONDO:0014868 oboInOwl:hasExactSynonym "DEE38" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014868 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in ARV1" MONDO:0014868 oboInOwl:hasExactSynonym "EIEE38" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014868 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 38" MONDO:0014868 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 38; EIEE38" +MONDO:0014868 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 38" MONDO:0014868 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 38" MONDO:0014868 oboInOwl:hasExactSynonym "ARV1 early infantile epileptic encephalopathy" CHEBI:5686 oboInOwl:hasExactSynonym "Heterocyclic compound" @@ -97141,6 +97376,7 @@ PATO:0001544 oboInOwl:hasExactSynonym "bendy" MONDO:0021141 oboInOwl:hasExactSynonym "not genetically inherited" MONDO:0006629 oboInOwl:hasExactSynonym "hip osteoarthritis" MONDO:0012079 oboInOwl:hasExactSynonym "ASPG2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012079 oboInOwl:hasExactSynonym "Asperger syndrome susceptibility 2, Isolated cases" MONDO:0006996 oboInOwl:hasExactSynonym "thyroid storm" MONDO:0006996 oboInOwl:hasExactSynonym "thyroid crisis" MONDO:0006996 oboInOwl:hasExactSynonym "thyroid crisis (disease)" @@ -97157,6 +97393,7 @@ MONDO:0009818 oboInOwl:hasExactSynonym "carbonic anhydrase 2 deficiency" MONDO:0009818 oboInOwl:hasExactSynonym "OPTB3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009818 oboInOwl:hasExactSynonym "osteopetrosis with renal tubular acidosis" MONDO:0009818 oboInOwl:hasExactSynonym "Guibaud-Vainsel syndrome" +MONDO:0009818 oboInOwl:hasExactSynonym "Osteopetrosis, autosomal recessive 3, with renal tubular acidosis" MONDO:0009818 oboInOwl:hasExactSynonym "marble brain disease" MONDO:0009818 oboInOwl:hasExactSynonym "CA2 osteopetrosis (disease)" MONDO:0009818 oboInOwl:hasExactSynonym "carbonic anhydrase II deficiency" @@ -97221,6 +97458,7 @@ MONDO:0011886 oboInOwl:hasExactSynonym "torsion dystonia type 13" MONDO:0011946 oboInOwl:hasExactSynonym "vertebral ossification, defect in, with nephrogenic rests" MONDO:0011946 oboInOwl:hasExactSynonym "diaphanospondylodysostosis" MONDO:0100226 oboInOwl:hasExactSynonym "parasomnia, sleepwalking type" +MONDO:0100226 oboInOwl:hasExactSynonym "parasomnia, sleepwalking type, multifactorial" MONDO:0100226 oboInOwl:hasExactSynonym "PSMNSW" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100226 oboInOwl:hasExactSynonym "parasomnia, sleep terrors type" MONDO:0011066 oboInOwl:hasExactSynonym "CMT4B1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -97298,6 +97536,7 @@ MONDO:0014647 oboInOwl:hasExactSynonym "CDG syndrome type Iz" MONDO:0014647 oboInOwl:hasExactSynonym "CDG1Z" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014647 oboInOwl:hasExactSynonym "EIEE50" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014647 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 50" +MONDO:0014647 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 50" MONDO:0015525 oboInOwl:hasExactSynonym "congenital pseudarthrosis of the limbs" MONDO:0019267 oboInOwl:hasExactSynonym "vitamin B12-unresponsive methylmalonic aciduria type mut-" MONDO:0019267 oboInOwl:hasExactSynonym "partial deficiency of methylmalonyl-CoA mutase" @@ -97400,16 +97639,16 @@ HP:0009815 oboInOwl:hasExactSynonym "Shortened limbs" HP:0009815 oboInOwl:hasExactSynonym "Absent/underdeveloped extremities" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0009815 oboInOwl:hasExactSynonym "Absent/small extremities" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0017570 oboInOwl:hasExactSynonym "congenital leukocyte adherence deficiency" +MONDO:0005093 oboInOwl:hasExactSynonym "skin disorder" +MONDO:0005093 oboInOwl:hasExactSynonym "disorder of skin" MONDO:0005093 oboInOwl:hasExactSynonym "skin and subcutaneous tissue disease" -MONDO:0005093 oboInOwl:hasExactSynonym "disease of zone of skin" MONDO:0005093 oboInOwl:hasExactSynonym "skin diseases and manifestations" -MONDO:0005093 oboInOwl:hasExactSynonym "zone of skin disease or disorder" +MONDO:0005093 oboInOwl:hasExactSynonym "disease of zone of skin" MONDO:0005093 oboInOwl:hasExactSynonym "disorder of zone of skin" -MONDO:0005093 oboInOwl:hasExactSynonym "skin disorder" -MONDO:0005093 oboInOwl:hasExactSynonym "cutaneous disorder" -MONDO:0005093 oboInOwl:hasExactSynonym "disorder of skin" MONDO:0005093 oboInOwl:hasExactSynonym "zone of skin disease" MONDO:0005093 oboInOwl:hasExactSynonym "disease or disorder of zone of skin" +MONDO:0005093 oboInOwl:hasExactSynonym "zone of skin disease or disorder" +MONDO:0005093 oboInOwl:hasExactSynonym "cutaneous disorder" MONDO:0000624 oboInOwl:hasExactSynonym "benign female reproductive system tumor" MONDO:0000624 oboInOwl:hasExactSynonym "female reproductive organ benign neoplasm" MONDO:0000624 oboInOwl:hasExactSynonym "benign female reproductive system neoplasm" @@ -97437,6 +97676,7 @@ MONDO:0013176 oboInOwl:hasExactSynonym "ichthyosis-short stature-brachydactyly-m MONDO:0013176 oboInOwl:hasExactSynonym "WMS4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013176 oboInOwl:hasExactSynonym "Weill-Marchesani-like syndrome" MONDO:0013176 oboInOwl:hasExactSynonym "Weill-Marchesani syndrome 4" +MONDO:0014122 oboInOwl:hasExactSynonym "myofibromatosis, infantile 2" MONDO:0014122 oboInOwl:hasExactSynonym "myofibromatosis, infantile, type 2" MONDO:0014122 oboInOwl:hasExactSynonym "myofibromatosis, infantile, 2" MONDO:0014122 oboInOwl:hasExactSynonym "myofibromatosis caused by mutation in NOTCH3" @@ -97457,7 +97697,9 @@ MONDO:0015159 oboInOwl:hasExactSynonym "multiple congenital anomalies-intellectu MONDO:0015159 oboInOwl:hasExactSynonym "multiple congenital anomalies/dysmorphic syndrome-intellectual disability" MONDO:0015159 oboInOwl:hasExactSynonym "MCA/MR" MONDO:0016105 oboInOwl:hasExactSynonym "acquired skeletal muscle disease" +MONDO:0009871 oboInOwl:hasExactSynonym "abnormal hair, joint laxity, and developmental delay" MONDO:0006881 oboInOwl:hasExactSynonym "orbital cellulitis" +MONDO:0008501 oboInOwl:hasExactSynonym "Sturge-Weber syndrome, somatic, mosaic" MONDO:0008501 oboInOwl:hasExactSynonym "Sturge-Weber-Krabbe syndrome" MONDO:0008501 oboInOwl:hasExactSynonym "Sturge-Weber-Dimitri syndrome" MONDO:0008501 oboInOwl:hasExactSynonym "Encephalotrigeminal syndrome" @@ -97478,6 +97720,7 @@ CHEBI:33853 oboInOwl:hasExactSynonym "phenols" MONDO:0010289 oboInOwl:hasExactSynonym "intellectual disability, X-linked 72" MONDO:0010289 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 72" MONDO:0010289 oboInOwl:hasExactSynonym "mental retardation, X-linked type 72" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010289 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 72, X-linked recessive" MONDO:0025598 oboInOwl:hasExactSynonym "chlamydia pneumonia" MONDO:0025598 oboInOwl:hasExactSynonym "Chlamydia pneumonia" MONDO:0025598 oboInOwl:hasExactSynonym "chlamydial pneumonia" @@ -97485,6 +97728,8 @@ MONDO:0025598 oboInOwl:hasExactSynonym "Chlamydia caused pneumonia" MONDO:0023164 oboInOwl:hasExactSynonym "viral pericarditis" MONDO:0011231 oboInOwl:hasExactSynonym "FEB2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011231 oboInOwl:hasExactSynonym "febrile seizures, familial, 2" +MONDO:0011231 oboInOwl:hasExactSynonym "generalized epilepsy with febrile seizures plus, type 11" +MONDO:0011231 oboInOwl:hasExactSynonym "epilepsy, idiopathic generalized, susceptibility to, 17" MONDO:0016420 oboInOwl:hasExactSynonym "hereditary flecked retinopathy" MONDO:0012468 oboInOwl:hasExactSynonym "rhizomelic dysplasia, scoliosis, and retinitis pigmentosa" MONDO:0045029 oboInOwl:hasExactSynonym "infection by Deuteromycetes" @@ -97493,6 +97738,7 @@ HP:0009145 oboInOwl:hasExactSynonym "Abnormality of the cerebral arteries" http: MONDO:0009942 oboInOwl:hasExactSynonym "camera syndrome" MONDO:0009942 oboInOwl:hasExactSynonym "pyknoachondrogenesis" MONDO:0013410 oboInOwl:hasExactSynonym "46,XY Sex reversal type 6" +MONDO:0013410 oboInOwl:hasExactSynonym "46XY sex reversal 6" MONDO:0013410 oboInOwl:hasExactSynonym "46,XY sex reversal 6" MONDO:0043904 oboInOwl:hasExactSynonym "diffuse cutaneous leishmaniasis" MONDO:0002797 oboInOwl:hasExactSynonym "pediatric medulloblastoma" @@ -97514,6 +97760,7 @@ MONDO:0019128 oboInOwl:hasExactSynonym "aplasia of the Müllerian ducts" MONDO:0019128 oboInOwl:hasExactSynonym "Müllerian duct failure" MONDO:0019128 oboInOwl:hasExactSynonym "aplasia of the Mullerian ducts" MONDO:0007298 oboInOwl:hasExactSynonym "congenital nonprogressive spinocerebellar ataxia" +MONDO:0007298 oboInOwl:hasExactSynonym "spinocerebellar ataxia 29, congenital nonprogressive" MONDO:0007298 oboInOwl:hasExactSynonym "spinocerebellar ataxia type 29" MONDO:0007298 oboInOwl:hasExactSynonym "SCA29" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012991 oboInOwl:hasExactSynonym "Kahrizi syndrome" @@ -97543,8 +97790,9 @@ CL:0002095 oboInOwl:hasExactSynonym "hilar cell of ovary" MONDO:0014974 oboInOwl:hasExactSynonym "sudden cardiac failure, alcohol-induced; SCFAI" MONDO:0014974 oboInOwl:hasExactSynonym "sudden Cardiac failure, alcohol-induced" MONDO:0014974 oboInOwl:hasExactSynonym "SCFAI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0030861 oboInOwl:hasExactSynonym "osteogenesis imperfecta, TYPE XXI" MONDO:0030861 oboInOwl:hasExactSynonym "OI21" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0030861 oboInOwl:hasExactSynonym "osteogenesis imperfecta 21" +MONDO:0030861 oboInOwl:hasExactSynonym "osteogenesis imperfecta, TYPE XXI" MONDO:0003284 oboInOwl:hasExactSynonym "mediastinum leiomyoma" MONDO:0003284 oboInOwl:hasExactSynonym "leiomyoma of mediastinum" MONDO:0003284 oboInOwl:hasExactSynonym "leiomyoma of the mediastinum" @@ -97611,6 +97859,7 @@ MONDO:0013794 oboInOwl:hasExactSynonym "JAK2 familial thrombocytosis" MONDO:0013794 oboInOwl:hasExactSynonym "thrombocythemia type 3" MONDO:0013794 oboInOwl:hasExactSynonym "thrombocythemia 3" MONDO:0013794 oboInOwl:hasExactSynonym "familial thrombocytosis caused by mutation in JAK2" +MONDO:0013794 oboInOwl:hasExactSynonym "thrombocythemia 3, autosomal dominant, somatic mutation" ECTO:0000200 oboInOwl:hasExactSynonym "exposure to lipid" MONDO:0004387 oboInOwl:hasExactSynonym "luteoma" MONDO:0004387 oboInOwl:hasExactSynonym "leuteoma of pregnancy" @@ -97650,7 +97899,9 @@ MONDO:0030026 oboInOwl:hasExactSynonym "RETINAL DYSTROPHY WITH LEUKODYSTROPHY" MONDO:0030026 oboInOwl:hasExactSynonym "RDLKD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011506 oboInOwl:hasExactSynonym "FIME" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011506 oboInOwl:hasExactSynonym "familial infantile myoclonus epilepsy" +MONDO:0011506 oboInOwl:hasExactSynonym "myoclonic epilepsy, infantile, familial" MONDO:0014281 oboInOwl:hasExactSynonym "cholangiocarcinoma, susceptibility to" +MONDO:0011895 oboInOwl:hasExactSynonym "hypereosinophilic syndrome, idiopathic, resistant to imatinib, isolated cases, somatic mutation" MONDO:0005952 oboInOwl:hasExactSynonym "scarlatina" MONDO:0007805 oboInOwl:hasExactSynonym "Spanish type hypotrichosis" MONDO:0007805 oboInOwl:hasExactSynonym "hypotrichosis caused by mutation in CDSN" @@ -97667,6 +97918,14 @@ MONDO:0044641 oboInOwl:hasExactSynonym "9q33.3-q34.11 microdeletion syndrome" MONDO:0011621 oboInOwl:hasExactSynonym "acropectoral syndrome" MONDO:0011621 oboInOwl:hasExactSynonym "ACRP syndrome" MONDO:0011621 oboInOwl:hasExactSynonym "syndactyly-preaxial polydactyly-sternal deformity syndrome" +MONDO:0021657 oboInOwl:hasExactSynonym "Sex cord-stromal neoplasm of the ovary" +MONDO:0021657 oboInOwl:hasExactSynonym "ovary sex cord-stromal tumor" +MONDO:0021657 oboInOwl:hasExactSynonym "sex cord-stromal tumor of ovary" +MONDO:0021657 oboInOwl:hasExactSynonym "Sex cord-stromal neoplasm of ovary" +MONDO:0021657 oboInOwl:hasExactSynonym "ovarian Sex cord-stromal neoplasm" +MONDO:0021657 oboInOwl:hasExactSynonym "Sex cord-stromal tumor of ovary" +MONDO:0021657 oboInOwl:hasExactSynonym "Sex cord-stromal tumor of the ovary" +MONDO:0021657 oboInOwl:hasExactSynonym "ovarian Sex cord-stromal tumor" GO:1905821 oboInOwl:hasExactSynonym "upregulation of chromosome condensation" GO:1905821 oboInOwl:hasExactSynonym "positive regulation of nuclear chromosome condensation" GO:1905821 oboInOwl:hasExactSynonym "up-regulation of eukaryotic chromosome condensation" @@ -97678,14 +97937,6 @@ GO:1905821 oboInOwl:hasExactSynonym "upregulation of nuclear chromosome condensa GO:1905821 oboInOwl:hasExactSynonym "up-regulation of chromosome condensation" GO:1905821 oboInOwl:hasExactSynonym "positive regulation of eukaryotic chromosome condensation" GO:1905821 oboInOwl:hasExactSynonym "up regulation of eukaryotic chromosome condensation" -MONDO:0021657 oboInOwl:hasExactSynonym "Sex cord-stromal neoplasm of the ovary" -MONDO:0021657 oboInOwl:hasExactSynonym "ovary sex cord-stromal tumor" -MONDO:0021657 oboInOwl:hasExactSynonym "sex cord-stromal tumor of ovary" -MONDO:0021657 oboInOwl:hasExactSynonym "Sex cord-stromal neoplasm of ovary" -MONDO:0021657 oboInOwl:hasExactSynonym "ovarian Sex cord-stromal neoplasm" -MONDO:0021657 oboInOwl:hasExactSynonym "Sex cord-stromal tumor of ovary" -MONDO:0021657 oboInOwl:hasExactSynonym "Sex cord-stromal tumor of the ovary" -MONDO:0021657 oboInOwl:hasExactSynonym "ovarian Sex cord-stromal tumor" MONDO:0016264 oboInOwl:hasExactSynonym "chronic autoimmune hepatitis" MONDO:0016264 oboInOwl:hasExactSynonym "autoimmune hepatitis with centrilobular necrosis" MONDO:0016264 oboInOwl:hasExactSynonym "autoimmune hepatitis" @@ -97730,8 +97981,8 @@ MONDO:0014656 oboInOwl:hasExactSynonym "RNASEH1 progressive external ophthalmopl MONDO:0014656 oboInOwl:hasExactSynonym "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2" MONDO:0014656 oboInOwl:hasExactSynonym "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2" MONDO:0013402 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation in NRL" -MONDO:0013402 oboInOwl:hasExactSynonym "RP27" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013402 oboInOwl:hasExactSynonym "retinitis pigmentosa type 27" +MONDO:0013402 oboInOwl:hasExactSynonym "RP27" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013402 oboInOwl:hasExactSynonym "retinitis pigmentosa 27" MONDO:0013402 oboInOwl:hasExactSynonym "NRL retinitis pigmentosa" HP:0000421 oboInOwl:hasExactSynonym "Nose bleed" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -97783,8 +98034,8 @@ MONDO:0000919 oboInOwl:hasExactSynonym "malignant ampulla of Vater tumor" MONDO:0000919 oboInOwl:hasExactSynonym "malignant hepatopancreatic ampulla neoplasm" MONDO:0000919 oboInOwl:hasExactSynonym "cancer of hepatopancreatic ampulla" MONDO:0000919 oboInOwl:hasExactSynonym "malignant tumor of ampulla of Vater" -MONDO:0000919 oboInOwl:hasExactSynonym "malignant neoplasm of ampulla of Vater" MONDO:0000919 oboInOwl:hasExactSynonym "hepatopancreatic ampulla cancer" +MONDO:0000919 oboInOwl:hasExactSynonym "malignant neoplasm of ampulla of Vater" MONDO:0000919 oboInOwl:hasExactSynonym "malignant tumour of ampulla of vater" MONDO:0016958 oboInOwl:hasExactSynonym "partial trisomy of chromosome 7q" MONDO:0016958 oboInOwl:hasExactSynonym "partial duplication of the long arm of chromosome type 7" @@ -97844,13 +98095,14 @@ MONDO:0002426 oboInOwl:hasExactSynonym "sarcoma of lung" MONDO:0002426 oboInOwl:hasExactSynonym "pulmonary sarcoma" MONDO:0007242 oboInOwl:hasExactSynonym "butyrylesterase 1" MONDO:0007242 oboInOwl:hasExactSynonym "Butyrylesterase type 1" -MONDO:0010315 oboInOwl:hasExactSynonym "T-B+ SCID due to gamma chain deficiency" -MONDO:0010315 oboInOwl:hasExactSynonym "X-linked severe combined immunodeficiency" -MONDO:0010315 oboInOwl:hasExactSynonym "SCID-X1" -MONDO:0010315 oboInOwl:hasExactSynonym "XSCID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010315 oboInOwl:hasExactSynonym "T-B+ severe combined immunodeficiency, X-linked" MONDO:0010315 oboInOwl:hasExactSynonym "thymic epithelial hypoplasia" +MONDO:0010315 oboInOwl:hasExactSynonym "SCID-X1" +MONDO:0010315 oboInOwl:hasExactSynonym "X-linked severe combined immunodeficiency" MONDO:0010315 oboInOwl:hasExactSynonym "T-B+ severe combined immunodeficiency due to gamma chain deficiency" +MONDO:0010315 oboInOwl:hasExactSynonym "T-B+ SCID due to gamma chain deficiency" +MONDO:0010315 oboInOwl:hasExactSynonym "severe combined immunodeficiency, X-linked, X-linked recessive" +MONDO:0010315 oboInOwl:hasExactSynonym "XSCID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010315 oboInOwl:hasExactSynonym "SCIDX1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005626 oboInOwl:hasExactSynonym "epithelial neoplasm" MONDO:0005626 oboInOwl:hasExactSynonym "epithelioma" @@ -97985,6 +98237,7 @@ MONDO:0008988 oboInOwl:hasExactSynonym "argininosuccinic acid synthase deficienc MONDO:0008988 oboInOwl:hasExactSynonym "citrullinemia type 1" MONDO:0008988 oboInOwl:hasExactSynonym "classic citrullinemia" MONDO:0008988 oboInOwl:hasExactSynonym "argininosuccinate synthetase deficiency" +MONDO:0008988 oboInOwl:hasExactSynonym "citrullinemia" MONDO:0008988 oboInOwl:hasExactSynonym "ASS deficiency" MONDO:0008988 oboInOwl:hasExactSynonym "CTLN1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007671 oboInOwl:hasExactSynonym "glomerulopathy with fibronectin deposits" @@ -98006,6 +98259,8 @@ GO:0032353 oboInOwl:hasExactSynonym "down-regulation of hormone biosynthetic pro GO:0032353 oboInOwl:hasExactSynonym "downregulation of hormone biosynthetic process" GO:0032353 oboInOwl:hasExactSynonym "down regulation of hormone biosynthetic process" MONDO:0008011 oboInOwl:hasExactSynonym "antigen defined by monoclonal antibody T87" +MONDO:0013879 oboInOwl:hasExactSynonym "pulmonary fibrosis, idiopathic, susceptibility to" +MONDO:0013879 oboInOwl:hasExactSynonym "aplastic anemia" MONDO:0013879 oboInOwl:hasExactSynonym "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2" MONDO:0013879 oboInOwl:hasExactSynonym "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 2" MONDO:0008825 oboInOwl:hasExactSynonym "Illum syndrome" @@ -98041,6 +98296,7 @@ GO:0000122 oboInOwl:hasExactSynonym "negative regulation of transcription from P GO:0000122 oboInOwl:hasExactSynonym "down-regulation of transcription from RNA polymerase II promoter" MONDO:0030926 oboInOwl:hasExactSynonym "spermatogenic failure 51" MONDO:0030926 oboInOwl:hasExactSynonym "SPGF51" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0044277 oboInOwl:hasExactSynonym "Uric acid concentration, serum, QTL4" MONDO:0020771 oboInOwl:hasExactSynonym "SCAN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0008037 oboInOwl:hasExactSynonym "recognition of surroundings by cell" GO:0006725 oboInOwl:hasExactSynonym "aromatic compound metabolism" @@ -98063,6 +98319,7 @@ MONDO:0009312 oboInOwl:hasExactSynonym "Hoepffner-Dreyer-Reimers syndrome" MONDO:0009312 oboInOwl:hasExactSynonym "Werner-like syndrome due to combined growth factor deficiency" HP:0030159 oboInOwl:hasExactSynonym "Cervical tumor" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0030159 oboInOwl:hasExactSynonym "Cervical tumour" http://purl.obolibrary.org/obo/hp.obo#uk_spelling +MONDO:0010317 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 29, X-linked recessive" MONDO:0017033 oboInOwl:hasExactSynonym "primary ILD in childhood and adulthood due to alveolar vascular disorder" MONDO:0015721 oboInOwl:hasExactSynonym "mild hemophilia type A" MONDO:0015721 oboInOwl:hasExactSynonym "mild factor VIII deficiency" @@ -98088,6 +98345,11 @@ MONDO:0008300 oboInOwl:hasExactSynonym "Willi-Prader syndrome" MONDO:0008300 oboInOwl:hasExactSynonym "Prader-Labhart-Willi syndrome" MONDO:0008300 oboInOwl:hasExactSynonym "Prader Willi syndrome" MONDO:0008300 oboInOwl:hasExactSynonym "Prader-Willi syndrome" +MONDO:0011193 oboInOwl:hasExactSynonym "cone dystrophy 3" +MONDO:0011193 oboInOwl:hasExactSynonym "GUCA1A cone dystrophy" +MONDO:0011193 oboInOwl:hasExactSynonym "cone dystrophy caused by mutation in GUCA1A" +MONDO:0011193 oboInOwl:hasExactSynonym "cone dystrophy-3" +MONDO:0011193 oboInOwl:hasExactSynonym "cone dystrophy type 3" MONDO:0022760 oboInOwl:hasExactSynonym "partial deletion of chromosome 22q" MONDO:0022760 oboInOwl:hasExactSynonym "partial monosomy of the long arm of chromosome 22" MONDO:0022760 oboInOwl:hasExactSynonym "partial deletion of the long arm of chromosome 22" @@ -98098,11 +98360,8 @@ MONDO:0022760 oboInOwl:hasExactSynonym "22q deletion" MONDO:0022760 oboInOwl:hasExactSynonym "partial deletion of the long arm of chromosome type 22" MONDO:0022760 oboInOwl:hasExactSynonym "partial monosomy 22q" MONDO:0022760 oboInOwl:hasExactSynonym "22q monosomy" -MONDO:0011193 oboInOwl:hasExactSynonym "cone dystrophy 3" -MONDO:0011193 oboInOwl:hasExactSynonym "GUCA1A cone dystrophy" -MONDO:0011193 oboInOwl:hasExactSynonym "cone dystrophy caused by mutation in GUCA1A" -MONDO:0011193 oboInOwl:hasExactSynonym "cone dystrophy type 3" GO:0001868 oboInOwl:hasExactSynonym "regulation of complement cascade, lectin pathway" +MONDO:0007103 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis, susceptibility to" MONDO:0007103 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis type 1" MONDO:0007103 oboInOwl:hasExactSynonym "ALS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007103 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis 1" @@ -98139,9 +98398,10 @@ MONDO:0005321 oboInOwl:hasExactSynonym "Fuchs' corneal dystrophy" MONDO:0005321 oboInOwl:hasExactSynonym "Fuchs endothelial dystrophy" MONDO:0005321 oboInOwl:hasExactSynonym "FCED" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005321 oboInOwl:hasExactSynonym "corneal dystrophy, Fuchs endothelial" -MONDO:0021142 oboInOwl:hasExactSynonym "acquired rippling muscle disease" MONDO:0021142 oboInOwl:hasExactSynonym "sporadic rippling muscle disease" +MONDO:0021142 oboInOwl:hasExactSynonym "acquired rippling muscle disease" MONDO:0007086 oboInOwl:hasExactSynonym "Alport syndrome, autosomal dominant" +MONDO:0007086 oboInOwl:hasExactSynonym "Alport syndrome 3, autosomal dominant" NCBITaxon:1653 oboInOwl:hasExactSynonym "Coryneform bacteria" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name HP:0002813 oboInOwl:hasExactSynonym "Abnormal shape of limb bone" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0002813 oboInOwl:hasExactSynonym "Arm and/or leg bone differences" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -98189,12 +98449,14 @@ MONDO:0010298 oboInOwl:hasExactSynonym "HG-PRT deficiency" MONDO:0010298 oboInOwl:hasExactSynonym "hypoxanthine guanine phosphoribosyltransferase complete deficiency" MONDO:0010298 oboInOwl:hasExactSynonym "deficiency of IMP pyrophosphorylase" MONDO:0010298 oboInOwl:hasExactSynonym "X-linked hyperuricemia" +MONDO:0010298 oboInOwl:hasExactSynonym "Lesch-Nyhan syndrome, X-linked recessive" MONDO:0010298 oboInOwl:hasExactSynonym "X-linked hyperuricemia (disorder) [ambiguous]" MONDO:0010298 oboInOwl:hasExactSynonym "complete hypoxanthine-guanine phosphoribosyltransferase deficiency" MONDO:0010298 oboInOwl:hasExactSynonym "hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV" MONDO:0010298 oboInOwl:hasExactSynonym "HPRT complete deficiency" MONDO:0002311 oboInOwl:hasExactSynonym "retinal vascular disorder" MONDO:0002311 oboInOwl:hasExactSynonym "retina circulation disorder" +MONDO:0021571 oboInOwl:hasExactSynonym "multiple sclerosis, disease progression, modifier of" MONDO:0021571 oboInOwl:hasExactSynonym "multiple sclerosis, susceptibility to, 1" MONDO:0017339 oboInOwl:hasExactSynonym "autosomal recessive exfoliative ichthyosis" MONDO:0017339 oboInOwl:hasExactSynonym "exfoliative ichthyosis" @@ -98206,16 +98468,17 @@ MONDO:0016711 oboInOwl:hasExactSynonym "Desmoplastic medulloblastoma" MONDO:0020374 oboInOwl:hasExactSynonym "blue-dot cataract" MONDO:0010485 oboInOwl:hasExactSynonym "microphthalmia, syndromic type 13" MONDO:0010485 oboInOwl:hasExactSynonym "X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome" -MONDO:0001552 oboInOwl:hasExactSynonym "disorder of arithmetical skills" -MONDO:0001552 oboInOwl:hasExactSynonym "dyscalculia (disease)" -MONDO:0001552 oboInOwl:hasExactSynonym "mathematics disorder" -MONDO:0001552 oboInOwl:hasExactSynonym "dyscalculia" MONDO:0020550 oboInOwl:hasExactSynonym "molar pregnancy with choriocarcinoma" MONDO:0020550 oboInOwl:hasExactSynonym "gestational choriocarcinoma" MONDO:0020550 oboInOwl:hasExactSynonym "gestational chorionepithelioma" MONDO:0020550 oboInOwl:hasExactSynonym "gestational choriocarcinoma (morphologic abnormality)" +MONDO:0001552 oboInOwl:hasExactSynonym "disorder of arithmetical skills" +MONDO:0001552 oboInOwl:hasExactSynonym "dyscalculia (disease)" +MONDO:0001552 oboInOwl:hasExactSynonym "mathematics disorder" +MONDO:0001552 oboInOwl:hasExactSynonym "dyscalculia" MONDO:0010506 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 61" MONDO:0010506 oboInOwl:hasExactSynonym "MRX61" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010506 oboInOwl:hasExactSynonym "Tonne-Kalscheuer syndrome" MONDO:0010506 oboInOwl:hasExactSynonym "non-syndromic X-linked intellectual disability caused by mutation in RLIM" MONDO:0010506 oboInOwl:hasExactSynonym "intellectual disability, X-linked 61" MONDO:0010506 oboInOwl:hasExactSynonym "mental retardation, X-linked type 61" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -98278,6 +98541,8 @@ MONDO:0019632 oboInOwl:hasExactSynonym "Borreliella burgdorferi caused disease o MONDO:0019632 oboInOwl:hasExactSynonym "Bannwarth syndrome" MONDO:0019632 oboInOwl:hasExactSynonym "Borreliella burgdorferi infectious disease" MONDO:0014320 oboInOwl:hasExactSynonym "optic atrophy-intellectual disability syndrome" +MONDO:0014320 oboInOwl:hasExactSynonym "Bosch-Boonstra-Schaaf optic atrophy syndrome" +MONDO:0014320 oboInOwl:hasExactSynonym "BBSOAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005556 oboInOwl:hasExactSynonym "SLE nephritis" MONDO:0005556 oboInOwl:hasExactSynonym "lupus nephritis" MONDO:0005556 oboInOwl:hasExactSynonym "lupus glomerulonephritis" @@ -98413,6 +98678,7 @@ MONDO:0009943 oboInOwl:hasExactSynonym "chondrodysplasia calcificans metaphyseal MONDO:0009943 oboInOwl:hasExactSynonym "Bakwin-Krida syndrome" MONDO:0009943 oboInOwl:hasExactSynonym "Pyle's disease" MONDO:0009943 oboInOwl:hasExactSynonym "Pyle-Cohn syndrome" +MONDO:0010650 oboInOwl:hasExactSynonym "Melnick-Needles syndrome, X-linked dominant" MONDO:0010650 oboInOwl:hasExactSynonym "Melnick-Needles syndrome" MONDO:0010650 oboInOwl:hasExactSynonym "Melnick-Needles osteodysplasty" CL:0002293 oboInOwl:hasExactSynonym "epithelial reticular cell" @@ -98438,6 +98704,7 @@ MONDO:0006882 oboInOwl:hasExactSynonym "orchitis" MONDO:0006882 oboInOwl:hasExactSynonym "Inflammation of testis" MONDO:0012141 oboInOwl:hasExactSynonym "IRF6 orofacial cleft" MONDO:0012141 oboInOwl:hasExactSynonym "orofacial cleft 6, susceptibility to" +MONDO:0012141 oboInOwl:hasExactSynonym "orofacial cleft 6" MONDO:0012141 oboInOwl:hasExactSynonym "orofacial cleft caused by mutation in IRF6" HP:0007364 oboInOwl:hasExactSynonym "Absent/small cerebrum" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0007364 oboInOwl:hasExactSynonym "Absent/underdeveloped cerebrum" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -98484,6 +98751,7 @@ MONDO:0012855 oboInOwl:hasExactSynonym "ARL13B Joubert syndrome" GO:0008046 oboInOwl:hasExactSynonym "receptor activity involved in axon guidance" MONDO:0003839 oboInOwl:hasExactSynonym "ovarian mucinous adenocarcinofibroma" MONDO:0003839 oboInOwl:hasExactSynonym "ovarian mucinous malignant adenofibroma" +MONDO:0013801 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 13" MONDO:0013801 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 13" MONDO:0013801 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 13" MONDO:0013801 oboInOwl:hasExactSynonym "EIEE13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -98523,6 +98791,7 @@ GO:0010672 oboInOwl:hasExactSynonym "regulation of transcription from RNA polyme MONDO:0020576 oboInOwl:hasExactSynonym "cutaneous vasculitis" MONDO:0010370 oboInOwl:hasExactSynonym "Cornelia de Lange syndrome caused by mutation in SMC1A" MONDO:0010370 oboInOwl:hasExactSynonym "X-linked Cornelia De Lange syndrome" +MONDO:0010370 oboInOwl:hasExactSynonym "Cornelia de Lange syndrome 2, X-linked dominant" MONDO:0010370 oboInOwl:hasExactSynonym "Cornelia de Lange syndrome 2" MONDO:0010370 oboInOwl:hasExactSynonym "SMC1A Cornelia de Lange syndrome" MONDO:0010370 oboInOwl:hasExactSynonym "Cornelia De Lange syndrome type 2" @@ -98614,6 +98883,7 @@ MONDO:0008776 oboInOwl:hasExactSynonym "amyloidosis of gingiva and conjunctiva, MONDO:0009722 oboInOwl:hasExactSynonym "Native American myopathy" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0009722 oboInOwl:hasExactSynonym "STAC3 disorder" MONDO:0009722 oboInOwl:hasExactSynonym "Bailey-Bloch congenital myopathy" +MONDO:0009722 oboInOwl:hasExactSynonym "myopathy, congenital, baily-bloch" MONDO:0009722 oboInOwl:hasExactSynonym "congenital myopathy-cleft palate-malignant hyperthermia syndrome" HP:0000478 oboInOwl:hasExactSynonym "Abnormal eye" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0000478 oboInOwl:hasExactSynonym "Abnormality of the eye" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -98640,6 +98910,7 @@ MONDO:0020179 oboInOwl:hasExactSynonym "nevus of eyelid" MONDO:0014815 oboInOwl:hasExactSynonym "autosomal recessive non-syndromic intellectual disability caused by mutation in LMAN2L" MONDO:0014815 oboInOwl:hasExactSynonym "MRT52" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014815 oboInOwl:hasExactSynonym "LMAN2L autosomal recessive non-syndromic intellectual disability" +MONDO:0014815 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 52" MONDO:0014815 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 52" MONDO:0014815 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive 52" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014815 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 52" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -98680,6 +98951,7 @@ MONDO:0007078 oboInOwl:hasExactSynonym "Albright hereditary osteodystrophy" MONDO:0007078 oboInOwl:hasExactSynonym "PHP1A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007078 oboInOwl:hasExactSynonym "pseudohypoparathyroidism type 1A" MONDO:0007078 oboInOwl:hasExactSynonym "Albright's hereditary osteodystrophy" +MONDO:0007078 oboInOwl:hasExactSynonym "pseudohypoparathyroidism Ia" MONDO:0025149 oboInOwl:hasExactSynonym "bovine spongiform encephalitis" MONDO:0025149 oboInOwl:hasExactSynonym "spongiform encephalopathy, bovine" MONDO:0025149 oboInOwl:hasExactSynonym "BSE (bovine spongiform encephalopathy)" @@ -98697,6 +98969,7 @@ MONDO:0002648 oboInOwl:hasExactSynonym "Paget disease of the breast" MONDO:0002648 oboInOwl:hasExactSynonym "breast Paget disease" GO:0030162 oboInOwl:hasExactSynonym "regulation of peptidolysis" MONDO:0012857 oboInOwl:hasExactSynonym "porokeratosis 5, disseminated superficial actinic type" +MONDO:0012857 oboInOwl:hasExactSynonym "porokeratosis 5, disseminated superficial actinic" MONDO:0012857 oboInOwl:hasExactSynonym "POROK5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001561 oboInOwl:hasExactSynonym "gastric outlet obstruction" MONDO:0001561 oboInOwl:hasExactSynonym "pyloric stenosis (disease)" @@ -98764,6 +99037,7 @@ MONDO:0010863 oboInOwl:hasExactSynonym "IDDM5" http://purl.obolibrary.org/obo/mo MONDO:0010863 oboInOwl:hasExactSynonym "diabetes mellitus, insulin-dependent, type 5" MONDO:0032663 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 70" MONDO:0032663 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70" +MONDO:0032663 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 70" MONDO:0032663 oboInOwl:hasExactSynonym "EIEE70" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032663 oboInOwl:hasExactSynonym "DEE70" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013574 oboInOwl:hasExactSynonym "cutis laxa - Marfanoid syndrome" @@ -98815,6 +99089,7 @@ MONDO:0016959 oboInOwl:hasExactSynonym "partial duplication of the long arm of c MONDO:0016161 oboInOwl:hasExactSynonym "Cramer-Niederdellmann syndrome" GO:0009141 oboInOwl:hasExactSynonym "nucleoside triphosphate metabolism" MONDO:0009148 oboInOwl:hasExactSynonym "Rosselli-Gulienetti syndrome" +MONDO:0007808 oboInOwl:hasExactSynonym "ichthyosis histrix, curth-macklin type" MONDO:0007808 oboInOwl:hasExactSynonym "ichthyosis hystrix, Curth-Macklin type" MONDO:0017901 oboInOwl:hasExactSynonym "IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" MONDO:0017901 oboInOwl:hasExactSynonym "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" @@ -98850,6 +99125,7 @@ HP:0004322 oboInOwl:hasExactSynonym "Stature below 3rd percentile" MONDO:0010455 oboInOwl:hasExactSynonym "combined immunodeficiency due to MAGT1 deficiency" MONDO:0010455 oboInOwl:hasExactSynonym "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia" MONDO:0010455 oboInOwl:hasExactSynonym "Cid due to MAGT1 deficiency" +MONDO:0010455 oboInOwl:hasExactSynonym "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive" MONDO:0010455 oboInOwl:hasExactSynonym "XMEN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020520 oboInOwl:hasExactSynonym "pulmonary Langerhans cell histiocytosis" MONDO:0020520 oboInOwl:hasExactSynonym "pulmonary histiocytosis X" @@ -98891,6 +99167,7 @@ MONDO:0007243 oboInOwl:hasExactSynonym "malignant lymphoma, Burkitt's type" MONDO:0007243 oboInOwl:hasExactSynonym "Burkitt lymphoma/leukaemia" MONDO:0007243 oboInOwl:hasExactSynonym "Burkitt's lymphoma" MONDO:0007243 oboInOwl:hasExactSynonym "Burkitt lymphoma" +MONDO:0007243 oboInOwl:hasExactSynonym "burkitt lymphoma, somatic" MONDO:0005627 oboInOwl:hasExactSynonym "cancer of head and neck" MONDO:0005627 oboInOwl:hasExactSynonym "malignant head and neck tumor" MONDO:0005627 oboInOwl:hasExactSynonym "cancer of the head and neck" @@ -98930,6 +99207,7 @@ MONDO:0014282 oboInOwl:hasExactSynonym "pure hereditary spastic paraplegia cause MONDO:0014282 oboInOwl:hasExactSynonym "SPG72" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014282 oboInOwl:hasExactSynonym "REEP2 pure hereditary spastic paraplegia" MONDO:0011896 oboInOwl:hasExactSynonym "hereditary late onset Parkinson disease caused by mutation in GIGYF2" +MONDO:0011896 oboInOwl:hasExactSynonym "Parkinson disease 11" MONDO:0011896 oboInOwl:hasExactSynonym "GIGYF2 hereditary late onset Parkinson disease" MONDO:0011896 oboInOwl:hasExactSynonym "Parkinson disease 11, autosomal dominant, susceptibility to" MONDO:0007501 oboInOwl:hasExactSynonym "preauricular fistulae, congenital" @@ -98947,6 +99225,7 @@ MONDO:0013006 oboInOwl:hasExactSynonym "IGHD IB" MONDO:0013006 oboInOwl:hasExactSynonym "dwarfism of Sindh" MONDO:0013006 oboInOwl:hasExactSynonym "congenital IGHD type IB" MONDO:0013006 oboInOwl:hasExactSynonym "congenital isolated growth hormone deficiency type IB" +MONDO:0013006 oboInOwl:hasExactSynonym "growth hormone deficiency, isolated, type IB" MONDO:0013006 oboInOwl:hasExactSynonym "congenital isolated GH deficiency type IB" MONDO:0009881 oboInOwl:hasExactSynonym "pituitary dwarfism with large sella turcica" MONDO:0004868 oboInOwl:hasExactSynonym "disease or disorder of biliary tree" @@ -99049,6 +99328,7 @@ MONDO:0010318 oboInOwl:hasExactSynonym "CASK FG syndrome" MONDO:0010318 oboInOwl:hasExactSynonym "FG syndrome caused by mutation in cask" MONDO:0010318 oboInOwl:hasExactSynonym "FG syndrome 4" MONDO:0010318 oboInOwl:hasExactSynonym "FG syndrome caused by mutation in CASK" +MONDO:0010318 oboInOwl:hasExactSynonym "mental retardation, with or without nystagmus" MONDO:0017034 oboInOwl:hasExactSynonym "secondary ILD in childhood and adulthood" MONDO:0003892 oboInOwl:hasExactSynonym "acinar adenocarcinoma of the lung" MONDO:0003892 oboInOwl:hasExactSynonym "acinar lung adenocarcinoma" @@ -99056,10 +99336,12 @@ MONDO:0003892 oboInOwl:hasExactSynonym "acinar adenocarcinoma of lung" MONDO:0015722 oboInOwl:hasExactSynonym "vitamin K-dependent clotting factors, combined deficiency of" MONDO:0015722 oboInOwl:hasExactSynonym "congenital vitamin K-dependent coagulation factors combined deficiency" MONDO:0009430 oboInOwl:hasExactSynonym "hypophosphatemic rickets, autosomal recessive, 1" +MONDO:0009430 oboInOwl:hasExactSynonym "hypophosphatemic rickets, AR" MONDO:0009430 oboInOwl:hasExactSynonym "hypophosphatemic rickets, autosomal recessive, type 1" MONDO:0009430 oboInOwl:hasExactSynonym "autosomal recessive hypophosphatemic rickets caused by mutation in DMP1" MONDO:0009430 oboInOwl:hasExactSynonym "DMP1 autosomal recessive hypophosphatemic rickets" MONDO:0013093 oboInOwl:hasExactSynonym "BRCA2 malignant glioma" +MONDO:0013093 oboInOwl:hasExactSynonym "glioblastoma 3" MONDO:0013093 oboInOwl:hasExactSynonym "glioma susceptibility 3" MONDO:0013093 oboInOwl:hasExactSynonym "glioma susceptibility type 3" MONDO:0013093 oboInOwl:hasExactSynonym "malignant glioma caused by mutation in BRCA2" @@ -99142,12 +99424,15 @@ MONDO:0013468 oboInOwl:hasExactSynonym "RP59" http://purl.obolibrary.org/obo/mon MONDO:0013468 oboInOwl:hasExactSynonym "retinitis pigmentosa type 59" MONDO:0013468 oboInOwl:hasExactSynonym "retinitis pigmentosa 59" MONDO:0013468 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation in DHDDS" +MONDO:0013468 oboInOwl:hasExactSynonym "congenital disorder of glycosylation, type 1bb" MONDO:0013468 oboInOwl:hasExactSynonym "DHDDS retinitis pigmentosa" MONDO:0011194 oboInOwl:hasExactSynonym "Alzheimer's disease type 5" MONDO:0011194 oboInOwl:hasExactSynonym "Alzheimer disease type 5" MONDO:0011194 oboInOwl:hasExactSynonym "Alzheimer disease 5" MONDO:0011194 oboInOwl:hasExactSynonym "Alzheimer disease, familial 5" +MONDO:0011194 oboInOwl:hasExactSynonym "Alzheimer disease-5" MONDO:0011194 oboInOwl:hasExactSynonym "AD5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007104 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to" MONDO:0007104 oboInOwl:hasExactSynonym "PDALS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007104 oboInOwl:hasExactSynonym "Lytico-Bodig disease" MONDO:0007104 oboInOwl:hasExactSynonym "Parkinsonism-dementia-ALS complex" @@ -99156,8 +99441,9 @@ MONDO:0007104 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis-Parkinsoni MONDO:0007104 oboInOwl:hasExactSynonym "Lytigo-Bodig disease" MONDO:0007104 oboInOwl:hasExactSynonym "Guam disease" MONDO:0020858 oboInOwl:hasExactSynonym "Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type" -MONDO:0020858 oboInOwl:hasExactSynonym "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5" +MONDO:0020858 oboInOwl:hasExactSynonym "mitochondrial complex v (atp synthase) deficiency" MONDO:0020858 oboInOwl:hasExactSynonym "MC5DN5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020858 oboInOwl:hasExactSynonym "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5" MONDO:0013373 oboInOwl:hasExactSynonym "CMD1V" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013373 oboInOwl:hasExactSynonym "familial isolated dilated cardiomyopathy caused by mutation in PSEN2" MONDO:0013373 oboInOwl:hasExactSynonym "PSEN2 familial isolated dilated cardiomyopathy" @@ -99172,6 +99458,7 @@ MONDO:0010299 oboInOwl:hasExactSynonym "Kelley-Seegmiller syndrome" MONDO:0010299 oboInOwl:hasExactSynonym "HPRT1 partial deficiency" MONDO:0010299 oboInOwl:hasExactSynonym "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I" MONDO:0010299 oboInOwl:hasExactSynonym "HPRT partial deficiency" +MONDO:0010299 oboInOwl:hasExactSynonym "hyperuricemia, HRPT-related, X-linked recessive" MONDO:0010299 oboInOwl:hasExactSynonym "HPRT-related hyperuricemia" MONDO:0010299 oboInOwl:hasExactSynonym "HPRT-related gout" CHEBI:25154 oboInOwl:hasExactSynonym "manganese molecular entity" @@ -99204,6 +99491,7 @@ MONDO:0004521 oboInOwl:hasExactSynonym "adult epithelioid sarcoma" MONDO:0016712 oboInOwl:hasExactSynonym "classic medulloblastoma" MONDO:0010486 oboInOwl:hasExactSynonym "Olmsted syndrome, X-linked" MONDO:0010486 oboInOwl:hasExactSynonym "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked" +MONDO:0010486 oboInOwl:hasExactSynonym "Olmsted syndrome, X-linked, X-linked recessive" MONDO:0011560 oboInOwl:hasExactSynonym "systemic lupus erythematosus, susceptibility to, 3" MONDO:0011560 oboInOwl:hasExactSynonym "SLEB3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0006700 oboInOwl:hasExactSynonym "optic choroid cancer" @@ -99276,6 +99564,7 @@ MONDO:0007495 oboInOwl:hasExactSynonym "DYT-GCH1" MONDO:0007495 oboInOwl:hasExactSynonym "GTPCH1-deficient dopa-responsive dystonia" MONDO:0007495 oboInOwl:hasExactSynonym "DYT5a" MONDO:0007495 oboInOwl:hasExactSynonym "hereditary progressive dystonia with marked diurnal fluctuation" +MONDO:0007495 oboInOwl:hasExactSynonym "dystonia, DOPA-responsive, with or without hyperphenylalaninemia" MONDO:0007495 oboInOwl:hasExactSynonym "GTPCH1-deficient DRD" MONDO:0007495 oboInOwl:hasExactSynonym "HPD with marked diurnal fluctuation" MONDO:0007495 oboInOwl:hasExactSynonym "GTP cyclohydrolase 1-deficient dopa-responsive dystonia" @@ -99347,6 +99636,7 @@ PO:0008028 oboInOwl:hasExactSynonym "meristema apical reproductivo del epiblasto MONDO:0002282 oboInOwl:hasExactSynonym "West Nile virus infectious disease" MONDO:0002282 oboInOwl:hasExactSynonym "West Nile virus disease or disorder" MONDO:0002282 oboInOwl:hasExactSynonym "West Nile virus caused disease or disorder" +MONDO:0013991 oboInOwl:hasExactSynonym "obesity, morbid, due to leptin deficiency" GO:0042635 oboInOwl:hasExactSynonym "up regulation of hair cycle" GO:0042635 oboInOwl:hasExactSynonym "upregulation of hair cycle" GO:0042635 oboInOwl:hasExactSynonym "up-regulation of hair cycle" @@ -99384,6 +99674,7 @@ MONDO:0013178 oboInOwl:hasExactSynonym "congenital muscular dystrophy caused by MONDO:0013178 oboInOwl:hasExactSynonym "L-CMD" MONDO:0013178 oboInOwl:hasExactSynonym "LMNA congenital muscular dystrophy" MONDO:0013178 oboInOwl:hasExactSynonym "LMNA-related congenital muscular dystrophy" +MONDO:0013178 oboInOwl:hasExactSynonym "muscular dystrophy, congenital" MONDO:0002586 oboInOwl:hasExactSynonym "cancer of Thymus" MONDO:0002586 oboInOwl:hasExactSynonym "malignant tumor of the Thymus" MONDO:0002586 oboInOwl:hasExactSynonym "malignant neoplasm of Thymus" @@ -99409,6 +99700,7 @@ MONDO:0010651 oboInOwl:hasExactSynonym "Trichopoliodystrophy" MONDO:0010651 oboInOwl:hasExactSynonym "X-linked copper deficiency" MONDO:0010651 oboInOwl:hasExactSynonym "Menkes disease" MONDO:0010651 oboInOwl:hasExactSynonym "Mk" +MONDO:0010651 oboInOwl:hasExactSynonym "menkes disease, X-linked recessive" MONDO:0010651 oboInOwl:hasExactSynonym "steely hair syndrome" MONDO:0010651 oboInOwl:hasExactSynonym "Menkes syndrome" MONDO:0010651 oboInOwl:hasExactSynonym "steely hair disease" @@ -99453,12 +99745,14 @@ MONDO:0007306 oboInOwl:hasExactSynonym "Klippel-Feil syndrome 1, autosomal domin MONDO:0007306 oboInOwl:hasExactSynonym "isolated Klippel-Feil syndrome caused by mutation in GDF6" MONDO:0007306 oboInOwl:hasExactSynonym "GDF6 isolated Klippel-Feil syndrome" MONDO:0014947 oboInOwl:hasExactSynonym "GRIN2D early infantile epileptic encephalopathy" -MONDO:0014947 oboInOwl:hasExactSynonym "EIEE46" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014947 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in GRIN2D" +MONDO:0014947 oboInOwl:hasExactSynonym "EIEE46" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014947 oboInOwl:hasExactSynonym "DEE46" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014947 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 46" MONDO:0014947 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 46; EIEE46" +MONDO:0014947 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 46" MONDO:0014947 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 46" +MONDO:0010507 oboInOwl:hasExactSynonym "Xq25 duplication syndrome" GO:0006024 oboInOwl:hasExactSynonym "glycosaminoglycan synthesis" GO:0006024 oboInOwl:hasExactSynonym "glycosaminoglycan formation" GO:0006024 oboInOwl:hasExactSynonym "glycosaminoglycan biosynthesis" @@ -99482,8 +99776,8 @@ MONDO:0008998 oboInOwl:hasExactSynonym "Cockayne syndrome type III" MONDO:0009944 oboInOwl:hasExactSynonym "pyloric atresia" MONDO:0013412 oboInOwl:hasExactSynonym "TTN hypertrophic cardiomyopathy" MONDO:0013412 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, 9" -MONDO:0013412 oboInOwl:hasExactSynonym "CMH9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013412 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, type 9" +MONDO:0013412 oboInOwl:hasExactSynonym "CMH9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013412 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 9" MONDO:0013412 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy caused by mutation in TTN" GO:0042110 oboInOwl:hasExactSynonym "T-lymphocyte activation" @@ -99519,7 +99813,6 @@ MONDO:0012142 oboInOwl:hasExactSynonym "orofacial cleft type 5" MONDO:0012142 oboInOwl:hasExactSynonym "orofacial cleft 5" MONDO:0012142 oboInOwl:hasExactSynonym "orofacial cleft caused by mutation in MSX1" GO:0019219 oboInOwl:hasExactSynonym "regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism" -MONDO:0002135 oboInOwl:hasExactSynonym "cranial nerve II disease or disorder" MONDO:0002135 oboInOwl:hasExactSynonym "cranial nerve II disease" MONDO:0002135 oboInOwl:hasExactSynonym "disease or disorder of cranial nerve II" MONDO:0002135 oboInOwl:hasExactSynonym "disorder of cranial nerve II" @@ -99528,6 +99821,7 @@ MONDO:0002135 oboInOwl:hasExactSynonym "optic neuropathy" MONDO:0002135 oboInOwl:hasExactSynonym "optic nerve disorder" MONDO:0002135 oboInOwl:hasExactSynonym "disorder of the second nerve" MONDO:0002135 oboInOwl:hasExactSynonym "second cranial nerve disorder" +MONDO:0002135 oboInOwl:hasExactSynonym "cranial nerve II disease or disorder" MONDO:0020577 oboInOwl:hasExactSynonym "gonadal germ cell tumor of childhood" MONDO:0020577 oboInOwl:hasExactSynonym "pediatric gonadal germ cell tumor" MONDO:0020577 oboInOwl:hasExactSynonym "childhood gonadal germ cell tumor" @@ -99540,6 +99834,7 @@ MONDO:0014814 oboInOwl:hasExactSynonym "advanced sleep phase syndrome, familial, MONDO:0014814 oboInOwl:hasExactSynonym "PER3 advanced sleep phase syndrome" MONDO:0012400 oboInOwl:hasExactSynonym "CDFES" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012400 oboInOwl:hasExactSynonym "cortical dysplasia-focal epilepsy syndrome" +MONDO:0012400 oboInOwl:hasExactSynonym "Pitt-Hopkins like syndrome 1" MONDO:0012400 oboInOwl:hasExactSynonym "CDFE syndrome" MONDO:0009118 oboInOwl:hasExactSynonym "disseminated sclerosis with narcolepsy" MONDO:0004773 oboInOwl:hasExactSynonym "iridocyclitis" @@ -99554,6 +99849,7 @@ GO:0031330 oboInOwl:hasExactSynonym "negative regulation of cellular breakdown" GO:0031330 oboInOwl:hasExactSynonym "negative regulation of cellular degradation" MONDO:0011383 oboInOwl:hasExactSynonym "ALPS-CASP10" MONDO:0011383 oboInOwl:hasExactSynonym "CASP10 autoimmune lymphoproliferative syndrome" +MONDO:0011383 oboInOwl:hasExactSynonym "autoimmune lymphoproliferative syndrome, type II" MONDO:0011383 oboInOwl:hasExactSynonym "type 2 ALPS" MONDO:0011383 oboInOwl:hasExactSynonym "autoimmune lymphoproliferative syndrome type IIA" MONDO:0011383 oboInOwl:hasExactSynonym "type 2 autoimmune lymphoproliferative syndrome" @@ -99567,8 +99863,8 @@ MONDO:0012856 oboInOwl:hasExactSynonym "BIRK-Barel mental retardation dysmorphis MONDO:0012856 oboInOwl:hasExactSynonym "Birk-Barel syndrome" MONDO:0012856 oboInOwl:hasExactSynonym "BIRK-Barel intellectual disability dysmorphism syndrome" MONDO:0012856 oboInOwl:hasExactSynonym "intellectual disability-hypotonia-facial dysmorphism syndrome" -MONDO:0100094 oboInOwl:hasExactSynonym "CHS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013802 oboInOwl:hasExactSynonym "infantile cerebellar-retinal degeneration" +MONDO:0100094 oboInOwl:hasExactSynonym "CHS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019269 oboInOwl:hasExactSynonym "disorder of cornification" MONDO:0019269 oboInOwl:hasExactSynonym "DOC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019269 oboInOwl:hasExactSynonym "fish scale disease" @@ -99582,6 +99878,7 @@ GO:0010673 oboInOwl:hasExactSynonym "positive regulation of transcription from R MONDO:0009274 oboInOwl:hasExactSynonym "ghosal hematodiaphyseal dysplasia" MONDO:0009274 oboInOwl:hasExactSynonym "Ghosal syndrome" MONDO:0009274 oboInOwl:hasExactSynonym "diaphyseal dysplasia-anemia syndrome" +MONDO:0009274 oboInOwl:hasExactSynonym "Ghosal hematodiaphyseal syndrome" MONDO:0017225 oboInOwl:hasExactSynonym "Pelizaeus-Merzbacher disease, null syndrome" MONDO:0017225 oboInOwl:hasExactSynonym "PLP1 null syndrome" MONDO:0008106 oboInOwl:hasExactSynonym "NYS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -99600,6 +99897,7 @@ MONDO:0000628 oboInOwl:hasExactSynonym "central nervous system benign neoplasm" MONDO:0033370 oboInOwl:hasExactSynonym "DEE61" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033370 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 61" MONDO:0033370 oboInOwl:hasExactSynonym "EIEE61" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0033370 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 61" MONDO:0044200 oboInOwl:hasExactSynonym "T-B+ SCID" MONDO:0044200 oboInOwl:hasExactSynonym "T-cell negative B-cell positive SCID" MONDO:0016968 oboInOwl:hasExactSynonym "partial trisomy of the long arm of chromosome type 18" @@ -99674,6 +99972,7 @@ MONDO:0042433 oboInOwl:hasExactSynonym "mycotic endocarditis" MONDO:0042433 oboInOwl:hasExactSynonym "Fungi endocarditis (disease)" HP:0002823 oboInOwl:hasExactSynonym "Abnormality of the thighbone" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0002823 oboInOwl:hasExactSynonym "Abnormality of the femora" +MONDO:0007079 oboInOwl:hasExactSynonym "alcohol dependence, susceptibility to" MONDO:0007079 oboInOwl:hasExactSynonym "alcoholism" MONDO:0007079 oboInOwl:hasExactSynonym "alcohol dependence" NCBITaxon:138948 oboInOwl:hasExactSynonym "Enterovirus EV-A" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name @@ -99693,6 +99992,7 @@ MONDO:0008021 oboInOwl:hasExactSynonym "Cowden syndrome type 1" MONDO:0008021 oboInOwl:hasExactSynonym "Cowden syndrome 1" MONDO:0008021 oboInOwl:hasExactSynonym "PTEN Cowden disease" MONDO:0008021 oboInOwl:hasExactSynonym "Cowden disease caused by mutation in PTEN" +MONDO:0008021 oboInOwl:hasExactSynonym "Lhermitte-Duclos syndrome" MONDO:0024568 oboInOwl:hasExactSynonym "Lars infantile liver failure" MONDO:0024568 oboInOwl:hasExactSynonym "LARS infantile liver failure" MONDO:0024568 oboInOwl:hasExactSynonym "infantile liver failure caused by mutation in LARS" @@ -99726,8 +100026,8 @@ MONDO:0006883 oboInOwl:hasExactSynonym "malignant Superior sulcus tumor of the l MONDO:0006883 oboInOwl:hasExactSynonym "Pancoast tumor" MONDO:0006883 oboInOwl:hasExactSynonym "superior pulmonary sulcus syndrome" MONDO:0006883 oboInOwl:hasExactSynonym "malignant Superior sulcus tumor of lung" -MONDO:0006883 oboInOwl:hasExactSynonym "malignant Superior sulcus lung tumor" MONDO:0006883 oboInOwl:hasExactSynonym "malignant Superior sulcus tumor" +MONDO:0006883 oboInOwl:hasExactSynonym "malignant Superior sulcus lung tumor" MONDO:0006883 oboInOwl:hasExactSynonym "malignant Superior sulcus neoplasm of lung" MONDO:0006883 oboInOwl:hasExactSynonym "malignant Superior sulcus neoplasm of the lung" MONDO:0006883 oboInOwl:hasExactSynonym "pulmonary sulcus neoplasm, malignant" @@ -99749,11 +100049,13 @@ MONDO:0010150 oboInOwl:hasExactSynonym "craniocervical region squamous cell carc MONDO:0010150 oboInOwl:hasExactSynonym "HNSCC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010150 oboInOwl:hasExactSynonym "squamous cell carcinomas of head and neck" MONDO:0010150 oboInOwl:hasExactSynonym "squamous cell carcinoma of head and neck" +MONDO:0010150 oboInOwl:hasExactSynonym "squamous cell carcinoma, head and neck, somatic" MONDO:0010150 oboInOwl:hasExactSynonym "squamous cell carcinoma of the head and neck" MONDO:0014189 oboInOwl:hasExactSynonym "age-related macular degeneration caused by mutation in CFI" MONDO:0014189 oboInOwl:hasExactSynonym "CFI age-related macular degeneration" MONDO:0014189 oboInOwl:hasExactSynonym "ARMD13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014189 oboInOwl:hasExactSynonym "age related macular degeneration type 13" +MONDO:0014189 oboInOwl:hasExactSynonym "macular degeneration, age-related, 13, susceptibility to" MONDO:0014189 oboInOwl:hasExactSynonym "macular Degeneration, age-related, type 13" MONDO:0011233 oboInOwl:hasExactSynonym "Axenfeld-Rieger syndrome caused by mutation in FOXC1" MONDO:0011233 oboInOwl:hasExactSynonym "Rieger syndrome type 3" @@ -99913,6 +100215,7 @@ MONDO:0018165 oboInOwl:hasExactSynonym "VTOS" http://purl.obolibrary.org/obo/mon MONDO:0018165 oboInOwl:hasExactSynonym "Venous costoclavicular syndrome" MONDO:0010679 oboInOwl:hasExactSynonym "DMD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010679 oboInOwl:hasExactSynonym "Duchenne muscular dystrophy" +MONDO:0010679 oboInOwl:hasExactSynonym "Duchenne muscular dystrophy, X-linked recessive" MONDO:0010679 oboInOwl:hasExactSynonym "severe dystrophinopathy, Duchenne type" MONDO:0010679 oboInOwl:hasExactSynonym "muscular dystrophy, Duchenne" MONDO:0017395 oboInOwl:hasExactSynonym "fixed drug eruption" @@ -99945,14 +100248,16 @@ MONDO:0009749 oboInOwl:hasExactSynonym "gan giant axonal neuropathy" MONDO:0009749 oboInOwl:hasExactSynonym "gan" MONDO:0009749 oboInOwl:hasExactSynonym "giant axonal neuropathy type 1" MONDO:0009749 oboInOwl:hasExactSynonym "giant axonal neuropathy caused by mutation in GAN" +MONDO:0009749 oboInOwl:hasExactSynonym "giant axonal neuropathy-1" MONDO:0009749 oboInOwl:hasExactSynonym "giant axonal neuropathy 1" MONDO:0009749 oboInOwl:hasExactSynonym "GAN giant axonal neuropathy" MONDO:0009749 oboInOwl:hasExactSynonym "giant axonal neuropathy caused by mutation in gan" MONDO:0007315 oboInOwl:hasExactSynonym "cherubism" MONDO:0007315 oboInOwl:hasExactSynonym "CRBM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0007315 oboInOwl:hasExactSynonym "familial multilocular cystic disease of the jaws" MONDO:0007315 oboInOwl:hasExactSynonym "familial fibrous dysplasia of the jaws" +MONDO:0007315 oboInOwl:hasExactSynonym "familial multilocular cystic disease of the jaws" MONDO:0010456 oboInOwl:hasExactSynonym "renal cell carcinoma, Xp11-associated" +MONDO:0010456 oboInOwl:hasExactSynonym "renal cell carcinoma, papillary, 1" NCBITaxon:426455 oboInOwl:hasExactSynonym "Rhipicephalus" http://purl.obolibrary.org/obo/ncbitaxon#scientific_name MONDO:0020521 oboInOwl:hasExactSynonym "EDS VIIA" MONDO:0003723 oboInOwl:hasExactSynonym "blunt duct adenosis of the breast" @@ -99968,7 +100273,10 @@ MONDO:0001731 oboInOwl:hasExactSynonym "benign vaginal mixed epithelial and mese MONDO:0001731 oboInOwl:hasExactSynonym "benign vaginal mixed epithelial and mesenchymal neoplasm" MONDO:0022983 oboInOwl:hasExactSynonym "Dieterich disease" MONDO:0022983 oboInOwl:hasExactSynonym "Dieterich's disease" +MONDO:0011508 oboInOwl:hasExactSynonym "lymphoma, non-Hodgkin, somatic" MONDO:0011508 oboInOwl:hasExactSynonym "lymphoma, non-Hodgkin, familial" +MONDO:0011508 oboInOwl:hasExactSynonym "lymphoma, follicular, somatic" +MONDO:0011508 oboInOwl:hasExactSynonym "lymphoma, non-Hodgkin" MONDO:0005473 oboInOwl:hasExactSynonym "TMD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007673 oboInOwl:hasExactSynonym "Glucoglycinuria" HP:0001376 oboInOwl:hasExactSynonym "Decreased joint mobility" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -99999,6 +100307,7 @@ MONDO:0004071 oboInOwl:hasExactSynonym "pediatric astrocytoma of the cerebrum" MONDO:0004071 oboInOwl:hasExactSynonym "childhood astrocytoma of the cerebrum" MONDO:0004071 oboInOwl:hasExactSynonym "pediatric astrocytoma of cerebrum" MONDO:0016266 oboInOwl:hasExactSynonym "body of uterus squamous cell carcinoma" +MONDO:0008662 oboInOwl:hasExactSynonym "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2" MONDO:0008662 oboInOwl:hasExactSynonym "ADVIRC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP:0008063 oboInOwl:hasExactSynonym "Absent/small lens" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0008063 oboInOwl:hasExactSynonym "Absent/underdeveloped lens" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -100028,6 +100337,7 @@ MONDO:0003546 oboInOwl:hasExactSynonym "disorder of oculomotor nerve" MONDO:0003546 oboInOwl:hasExactSynonym "disease or disorder of oculomotor nerve" MONDO:0003546 oboInOwl:hasExactSynonym "disease of oculomotor nerve" MONDO:0017668 oboInOwl:hasExactSynonym "Stoll-GC)raudel-Chauvin syndrome" +MONDO:0044279 oboInOwl:hasExactSynonym "bone mineral density QTL 15" MONDO:0006922 oboInOwl:hasExactSynonym "Anaplasmataceae caused disease or disorder" MONDO:0006922 oboInOwl:hasExactSynonym "Anaplasmataceae disease or disorder" MONDO:0013575 oboInOwl:hasExactSynonym "plasma fibronectin deficiency" @@ -100050,6 +100360,7 @@ MONDO:0010044 oboInOwl:hasExactSynonym "autosomal recessive complex spastic para MONDO:0010044 oboInOwl:hasExactSynonym "Kjellin syndrome" MONDO:0010044 oboInOwl:hasExactSynonym "ZFYVE26 autosomal recessive complex spastic paraplegia" MONDO:0010044 oboInOwl:hasExactSynonym "autosomal recessive spastic paraplegia type 15" +MONDO:0033004 oboInOwl:hasExactSynonym "polycystic kidney disease 4, with or without hepatic disease" MONDO:0033004 oboInOwl:hasExactSynonym "polycystic kidney disease 4" MONDO:0015840 oboInOwl:hasExactSynonym "total septate uterus" HP:0002121 oboInOwl:hasExactSynonym "Petit mal seizures" http://purl.obolibrary.org/obo/hp.obo#plural_form @@ -100074,6 +100385,7 @@ MONDO:0021321 oboInOwl:hasExactSynonym "malignant neoplasm of extrahepatic bile MONDO:0021321 oboInOwl:hasExactSynonym "malignant extrahepatic bile duct neoplasm" MONDO:0043267 oboInOwl:hasExactSynonym "rheumatoid vasculitis" MONDO:0011446 oboInOwl:hasExactSynonym "myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders" +MONDO:0013646 oboInOwl:hasExactSynonym "chromosome 8q21.11 deletion syndrome, isolated cases" MONDO:0013646 oboInOwl:hasExactSynonym "chromosome 8q21.11 deletion syndrome" MONDO:0013646 oboInOwl:hasExactSynonym "8q21.11 microdeletion syndrome" MONDO:0013646 oboInOwl:hasExactSynonym "deletion 8q21.11" @@ -100084,6 +100396,7 @@ MONDO:0010319 oboInOwl:hasExactSynonym "MRXSH" http://purl.obolibrary.org/obo/mo MONDO:0010319 oboInOwl:hasExactSynonym "MRXE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010319 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic, Hedera type" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010319 oboInOwl:hasExactSynonym "X-linked intellectual disability with epilepsy" +MONDO:0010319 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive" MONDO:0010319 oboInOwl:hasExactSynonym "X-linked mental retardation with epilepsy" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0015723 oboInOwl:hasExactSynonym "trisomy type 12p" MONDO:0015723 oboInOwl:hasExactSynonym "Duplication 12p" @@ -100125,11 +100438,11 @@ MONDO:0017902 oboInOwl:hasExactSynonym "autosomal recessive mendelian susceptibi MONDO:0012887 oboInOwl:hasExactSynonym "inflammatory bowel disease 23" MONDO:0012887 oboInOwl:hasExactSynonym "IBD23" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012887 oboInOwl:hasExactSynonym "inflammatory bowel disease type 23" -GO:0034101 oboInOwl:hasExactSynonym "red blood cell homeostasis" -GO:0034101 oboInOwl:hasExactSynonym "RBC homeostasis" MONDO:0013961 oboInOwl:hasExactSynonym "SEMA3A hypogonadotropic hypogonadism" MONDO:0013961 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 16 with or without anosmia" MONDO:0013961 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism caused by mutation in SEMA3A" +GO:0034101 oboInOwl:hasExactSynonym "red blood cell homeostasis" +GO:0034101 oboInOwl:hasExactSynonym "RBC homeostasis" HP:0004323 oboInOwl:hasExactSynonym "Abnormality of body weight" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0005065 oboInOwl:hasExactSynonym "mesothelioma" MONDO:0003021 oboInOwl:hasExactSynonym "angiosarcoma of CNS" @@ -100162,6 +100475,7 @@ MONDO:0013491 oboInOwl:hasExactSynonym "megalencephalic leukoencephalopathy with MONDO:0013491 oboInOwl:hasExactSynonym "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014133 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 16" MONDO:0014133 oboInOwl:hasExactSynonym "DEE16" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014133 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 16" MONDO:0014133 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 16" MONDO:0014133 oboInOwl:hasExactSynonym "EIEE16" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033091 oboInOwl:hasExactSynonym "ichthyosis, congenital, autosomal recessive 14" @@ -100171,6 +100485,7 @@ MONDO:0003325 oboInOwl:hasExactSynonym "ganglioneuroblastoma, nodular" MONDO:0018658 oboInOwl:hasExactSynonym "dup(19)(p13.13)" MONDO:0011038 oboInOwl:hasExactSynonym "CAPOS syndrome" MONDO:0009882 oboInOwl:hasExactSynonym "plasma clot retraction factor, deficiency of" +MONDO:0032853 oboInOwl:hasExactSynonym "myopathy, distal, 6, adult onset" MONDO:0015443 oboInOwl:hasExactSynonym "Ring 8" MONDO:0015443 oboInOwl:hasExactSynonym "supernumerary ring/marker 8" MONDO:0015443 oboInOwl:hasExactSynonym "ring chromosome 8" @@ -100214,6 +100529,7 @@ MONDO:0100385 oboInOwl:hasExactSynonym "AML, t(11;19)(q23.3;p13.3)" MONDO:0100385 oboInOwl:hasExactSynonym "AML, t(11;19)(q23;p13.3)" GO:0099738 oboInOwl:hasExactSynonym "perimembrane region" MONDO:0019185 oboInOwl:hasExactSynonym "obsolete rhabdomyosarcoma (disease)" +MONDO:0013740 oboInOwl:hasExactSynonym "craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies" MONDO:0019447 oboInOwl:hasExactSynonym "Intermediate lichen myxedematosus" MONDO:0000152 oboInOwl:hasExactSynonym "thiamine-responsive dysfunction syndrome" MONDO:0006055 oboInOwl:hasExactSynonym "Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)" @@ -100250,6 +100566,7 @@ MONDO:0006317 oboInOwl:hasExactSynonym "neurothekeoma" MONDO:0100229 oboInOwl:hasExactSynonym "Heimler syndrome" MONDO:0100229 oboInOwl:hasExactSynonym "deafness-enamel hypoplasia-nail defects syndrome" MONDO:0009431 oboInOwl:hasExactSynonym "hypercalciuric hypophosphatemic rickets" +MONDO:0009431 oboInOwl:hasExactSynonym "hypophosphatemic rickets with hypercalciuria" MONDO:0009431 oboInOwl:hasExactSynonym "hypophosphatemic hypercalciuric rickets" MONDO:0009431 oboInOwl:hasExactSynonym "HHRH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013094 oboInOwl:hasExactSynonym "glioma susceptibility 5" @@ -100267,6 +100584,7 @@ MONDO:0014946 oboInOwl:hasExactSynonym "Sifrim-Hitz-Weiss syndrome" MONDO:0014946 oboInOwl:hasExactSynonym "Sifrim-Hitz-Weiss syndrome; SIHIWES" MONDO:0010905 oboInOwl:hasExactSynonym "CRD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010905 oboInOwl:hasExactSynonym "cone-rod dystrophy type 1" +MONDO:0010905 oboInOwl:hasExactSynonym "cone-rod retinal dystrophy-1" MONDO:0010905 oboInOwl:hasExactSynonym "CORD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010905 oboInOwl:hasExactSynonym "cone-rod dystrophy 1" MONDO:0013811 oboInOwl:hasExactSynonym "COXPD9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -100286,6 +100604,7 @@ MONDO:0007496 oboInOwl:hasExactSynonym "ATP1A3 dystonic disorder" MONDO:0007496 oboInOwl:hasExactSynonym "dystonia type 12" MONDO:0007496 oboInOwl:hasExactSynonym "dystonic disorder caused by mutation in ATP1A3" MONDO:0007496 oboInOwl:hasExactSynonym "DYT-ATP1A3" +MONDO:0007496 oboInOwl:hasExactSynonym "dystonia-12" MONDO:0007496 oboInOwl:hasExactSynonym "dystonia 12" MONDO:0004930 oboInOwl:hasExactSynonym "corticosteroid-induced glaucoma" MONDO:0007758 oboInOwl:hasExactSynonym "EPPK" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -100351,6 +100670,7 @@ MONDO:0041259 oboInOwl:hasExactSynonym "Corynebacterium diphtheriae myocarditis" CHEBI:35341 oboInOwl:hasExactSynonym "steroids" CHEBI:35341 oboInOwl:hasExactSynonym "Steroid" MONDO:0008285 oboInOwl:hasExactSynonym "polyps, multiple and recurrent inflammatory fibroid, gastrointestinal" +MONDO:0008285 oboInOwl:hasExactSynonym "gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial" MONDO:0001146 oboInOwl:hasExactSynonym "fourth or trochlear nerve palsy" MONDO:0001146 oboInOwl:hasExactSynonym "cranial nerve palsy of trochlear nerve" MONDO:0001146 oboInOwl:hasExactSynonym "fourth nerve palsy" @@ -100366,6 +100686,9 @@ MONDO:0021144 oboInOwl:hasExactSynonym "ovarian clear cell neoplasm" CL:0002312 oboInOwl:hasExactSynonym "somatotrope" CL:0002312 oboInOwl:hasExactSynonym "somatrophic cell" CL:0002312 oboInOwl:hasExactSynonym "somatotropic cell" +MONDO:0007088 oboInOwl:hasExactSynonym "Alzheimer disease, late-onset, susceptibility to" +MONDO:0007088 oboInOwl:hasExactSynonym "Alzheimer disease, susceptibility to" +MONDO:0007088 oboInOwl:hasExactSynonym "Alzheimer disease 1, familial" MONDO:0004522 oboInOwl:hasExactSynonym "retractile mesenteritis" MONDO:0004522 oboInOwl:hasExactSynonym "acute generalized peritonitis" MONDO:0004522 oboInOwl:hasExactSynonym "primary bacterial peritonitis" @@ -100373,6 +100696,7 @@ MONDO:0004522 oboInOwl:hasExactSynonym "peritoneum inflammation" MONDO:0004522 oboInOwl:hasExactSynonym "inflammation of peritoneum" GO:1903059 oboInOwl:hasExactSynonym "regulation of protein amino acid lipidation" GO:1903059 oboInOwl:hasExactSynonym "regulation of lipid:protein modification" +MONDO:0013992 oboInOwl:hasExactSynonym "obesity, morbid, due to leptin receptor deficiency" MONDO:0013992 oboInOwl:hasExactSynonym "obesity due to leptin receptor gene deficiency" GO:0071417 oboInOwl:hasExactSynonym "cellular response to organic nitrogen" GO:0042636 oboInOwl:hasExactSynonym "down-regulation of hair cycle" @@ -100384,6 +100708,7 @@ MONDO:0007307 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease slow nerve c MONDO:0007307 oboInOwl:hasExactSynonym "HMSN1B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007307 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 1B" MONDO:0007307 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ" +MONDO:0007307 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 1B" MONDO:0007307 oboInOwl:hasExactSynonym "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B" MONDO:0007307 oboInOwl:hasExactSynonym "MPZ Charcot-Marie-Tooth disease type 1" MONDO:0007307 oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy IB" @@ -100406,6 +100731,7 @@ GO:1902679 oboInOwl:hasExactSynonym "negative regulation of RNA biosynthesis" GO:1902679 oboInOwl:hasExactSynonym "downregulation of RNA anabolism" GO:1902679 oboInOwl:hasExactSynonym "down regulation of RNA formation" GO:1902679 oboInOwl:hasExactSynonym "downregulation of RNA synthesis" +MONDO:0026720 oboInOwl:hasExactSynonym "mitochondrial complex i deficiency, nuclear type 12, X-linked recessive" CHEBI:37806 oboInOwl:hasExactSynonym "penicillanic acid" CHEBI:37806 oboInOwl:hasExactSynonym "2,2-dimethylpenam-3alpha-carboxylic acid" MONDO:0006170 oboInOwl:hasExactSynonym "conjunctiva disease or disorder" @@ -100464,6 +100790,7 @@ MONDO:0010508 oboInOwl:hasExactSynonym "non-syndromic X-linked intellectual disa MONDO:0010508 oboInOwl:hasExactSynonym "mental retardation, X-linked type 103" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010508 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 103" MONDO:0010508 oboInOwl:hasExactSynonym "intellectual disability, X-linked 103" +MONDO:0010508 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 103, X-linked recessive" MONDO:0010508 oboInOwl:hasExactSynonym "KLHL15 non-syndromic X-linked intellectual disability" MONDO:0018868 oboInOwl:hasExactSynonym "arylsulfatase A deficiency" MONDO:0018868 oboInOwl:hasExactSynonym "MLD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -100473,10 +100800,10 @@ MONDO:0018868 oboInOwl:hasExactSynonym "sulfatide lipoidosis" MONDO:0010873 oboInOwl:hasExactSynonym "band heterotopia of brain" MONDO:0011384 oboInOwl:hasExactSynonym "hypertension, essential, susceptibility to, 1" MONDO:0011384 oboInOwl:hasExactSynonym "hypertension, essential, susceptibility to, type 1" -MONDO:0013584 oboInOwl:hasExactSynonym "HSAN1E" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013584 oboInOwl:hasExactSynonym "hereditary sensory neuropathy type IE" -MONDO:0013584 oboInOwl:hasExactSynonym "hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome" +MONDO:0013584 oboInOwl:hasExactSynonym "HSAN1E" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013584 oboInOwl:hasExactSynonym "HSN1E" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013584 oboInOwl:hasExactSynonym "hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome" MONDO:0013237 oboInOwl:hasExactSynonym "mononeuropathy of the median nerve, mild" MONDO:0013413 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation in CNGB1" MONDO:0013413 oboInOwl:hasExactSynonym "retinitis pigmentosa 45" @@ -100588,10 +100915,11 @@ MONDO:0001406 oboInOwl:hasExactSynonym "neoplasm of peripheral nervous system" MONDO:0001406 oboInOwl:hasExactSynonym "neoplasm of the PNS" MONDO:0001406 oboInOwl:hasExactSynonym "PNS tumor" MONDO:0001406 oboInOwl:hasExactSynonym "tumor of peripheral nervous system" -MONDO:0013133 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, susceptibility to, 5" -MONDO:0013133 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, susceptibility to, type 5" MONDO:0001007 oboInOwl:hasExactSynonym "chronic meningitis (disease)" MONDO:0001007 oboInOwl:hasExactSynonym "meningitis (disease), chronic" +MONDO:0013133 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, susceptibility to, 5" +MONDO:0013133 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, 5" +MONDO:0013133 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, susceptibility to, type 5" MONDO:0013179 oboInOwl:hasExactSynonym "GJC2 autosomal recessive complex spastic paraplegia" MONDO:0013179 oboInOwl:hasExactSynonym "hereditary spastic paraplegia type 44" MONDO:0013179 oboInOwl:hasExactSynonym "autosomal recessive spastic paraplegia 44" @@ -100620,20 +100948,20 @@ MONDO:0009548 oboInOwl:hasExactSynonym "FHHNC with severe ocular involvement" MONDO:0009548 oboInOwl:hasExactSynonym "hypercalciuria-bilateral macular coloboma syndrome" MONDO:0008778 oboInOwl:hasExactSynonym "amyloidosis, cutaneous bullous" GO:0030202 oboInOwl:hasExactSynonym "heparin metabolism" -MONDO:0013016 oboInOwl:hasExactSynonym "lad-III" -MONDO:0013016 oboInOwl:hasExactSynonym "LAD3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013016 oboInOwl:hasExactSynonym "FERMT3 leukocyte adhesion deficiency" -MONDO:0013016 oboInOwl:hasExactSynonym "leukocyte adhesion deficiency caused by mutation in FERMT3" +MONDO:0013016 oboInOwl:hasExactSynonym "leukocyte adhesion deficiency type III" MONDO:0013016 oboInOwl:hasExactSynonym "LAD1V" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013016 oboInOwl:hasExactSynonym "leukocyte adhesion deficiency 3" MONDO:0013016 oboInOwl:hasExactSynonym "leukocyte adhesion deficiency-1 variant" -MONDO:0013016 oboInOwl:hasExactSynonym "IADD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013016 oboInOwl:hasExactSynonym "leukocyte adhesion deficiency 1 variant" -MONDO:0013016 oboInOwl:hasExactSynonym "leukocyte adhesion deficiency type 3" -MONDO:0013016 oboInOwl:hasExactSynonym "leukocyte adhesion deficiency type III" -MONDO:0013016 oboInOwl:hasExactSynonym "lad-1 variant" MONDO:0013016 oboInOwl:hasExactSynonym "integrin activation deficiency disease" +MONDO:0013016 oboInOwl:hasExactSynonym "lad-1 variant" +MONDO:0013016 oboInOwl:hasExactSynonym "FERMT3 leukocyte adhesion deficiency" MONDO:0013016 oboInOwl:hasExactSynonym "LAD1 variant" +MONDO:0013016 oboInOwl:hasExactSynonym "leukocyte adhesion deficiency type 3" +MONDO:0013016 oboInOwl:hasExactSynonym "lad-III" +MONDO:0013016 oboInOwl:hasExactSynonym "LAD3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013016 oboInOwl:hasExactSynonym "leukocyte adhesion deficiency caused by mutation in FERMT3" +MONDO:0013016 oboInOwl:hasExactSynonym "IADD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013016 oboInOwl:hasExactSynonym "leukocyte adhesion deficiency 3" MONDO:0005128 oboInOwl:hasExactSynonym "disease of sensory system" MONDO:0005128 oboInOwl:hasExactSynonym "sensory disease" MONDO:0005128 oboInOwl:hasExactSynonym "disease or disorder of sensory system" @@ -100645,6 +100973,7 @@ MONDO:0004041 oboInOwl:hasExactSynonym "bladder papilloma" MONDO:0004041 oboInOwl:hasExactSynonym "urothelial papilloma" MONDO:0004041 oboInOwl:hasExactSynonym "transitional cell papilloma of bladder" MONDO:0008504 oboInOwl:hasExactSynonym "supra-valvular aortic stenosis" +MONDO:0008504 oboInOwl:hasExactSynonym "supravalvar aortic stenosis" MONDO:0008504 oboInOwl:hasExactSynonym "supravalvular aortic stenosis" MONDO:0008504 oboInOwl:hasExactSynonym "SVAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008504 oboInOwl:hasExactSynonym "supravalvular aortic stenosis (disease)" @@ -100712,10 +101041,12 @@ MONDO:0013805 oboInOwl:hasExactSynonym "DYNC1H1 autosomal dominant non-syndromic MONDO:0013805 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant type 13" MONDO:0009393 oboInOwl:hasExactSynonym "triple H syndrome" MONDO:0009393 oboInOwl:hasExactSynonym "ORNT1 deficiency" -MONDO:0009393 oboInOwl:hasExactSynonym "hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome" MONDO:0009393 oboInOwl:hasExactSynonym "ornithine carrier deficiency" +MONDO:0009393 oboInOwl:hasExactSynonym "hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome" +MONDO:0009393 oboInOwl:hasExactSynonym "hyperornithinemia-hyperammonemia-homocitrullinemia syndrome" MONDO:0009393 oboInOwl:hasExactSynonym "ornithine translocase deficiency" MONDO:0009393 oboInOwl:hasExactSynonym "HHH syndrome" +MONDO:0012636 oboInOwl:hasExactSynonym "restless legs syndrome 6" MONDO:0012636 oboInOwl:hasExactSynonym "RLS6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012636 oboInOwl:hasExactSynonym "restless legs syndrome, susceptibility to, 6" MONDO:0007947 oboInOwl:hasExactSynonym "MFS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -100730,6 +101061,7 @@ MONDO:0000981 oboInOwl:hasExactSynonym "histoplasmosis with pericarditis" MONDO:0000981 oboInOwl:hasExactSynonym "Histoplasma pericarditis (disease)" MONDO:0010222 oboInOwl:hasExactSynonym "X-linked Opitz syndrome" MONDO:0010222 oboInOwl:hasExactSynonym "Opitz G/BBB syndrome, X-linked" +MONDO:0010222 oboInOwl:hasExactSynonym "Opitz GBBB syndrome, type I, X-linked recessive" MONDO:0010222 oboInOwl:hasExactSynonym "X-linked Opitz BBB/G syndrome" MONDO:0010222 oboInOwl:hasExactSynonym "XLOS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010222 oboInOwl:hasExactSynonym "X-linked Opitz G/BBB syndrome" @@ -100790,8 +101122,10 @@ MONDO:0010865 oboInOwl:hasExactSynonym "pseudoaminopterin syndrome" GO:0010674 oboInOwl:hasExactSynonym "negative regulation of transcription from RNA polymerase II promoter, meiotic" MONDO:0013290 oboInOwl:hasExactSynonym "LRRC8A autosomal agammaglobulinemia" MONDO:0013290 oboInOwl:hasExactSynonym "autosomal agammaglobulinemia caused by mutation in LRRC8A" +MONDO:0013290 oboInOwl:hasExactSynonym "agammaglobulinemia 5" MONDO:0013290 oboInOwl:hasExactSynonym "agammaglobulinemia 5, autosomal dominant" MONDO:0000629 oboInOwl:hasExactSynonym "cardiovascular system benign neoplasm" +MONDO:0033371 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 62" MONDO:0033371 oboInOwl:hasExactSynonym "DEE62" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033371 oboInOwl:hasExactSynonym "EIEE62" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033371 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 62" @@ -100838,26 +101172,28 @@ MONDO:0021209 oboInOwl:hasExactSynonym "heart neoplasm (disease)" MONDO:0021209 oboInOwl:hasExactSynonym "tumor of the heart" MONDO:0021209 oboInOwl:hasExactSynonym "tumor of heart" CHEBI:36587 oboInOwl:hasExactSynonym "oxo compounds" +NCBITaxon:138949 oboInOwl:hasExactSynonym "Human enterovirus B" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name +NCBITaxon:138949 oboInOwl:hasExactSynonym "Enterovirus EV-B" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name MONDO:0012395 oboInOwl:hasExactSynonym "cataract (disease) caused by mutation in FYCO1" MONDO:0012395 oboInOwl:hasExactSynonym "cataract type 18" MONDO:0012395 oboInOwl:hasExactSynonym "cataract 18 autosomal recessive" MONDO:0012395 oboInOwl:hasExactSynonym "FYCO1 cataract (disease)" +MONDO:0012395 oboInOwl:hasExactSynonym "cataract 18, autosomal recessive" MONDO:0012395 oboInOwl:hasExactSynonym "CATC2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012395 oboInOwl:hasExactSynonym "CTRCT18" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012395 oboInOwl:hasExactSynonym "cataract 18" MONDO:0012395 oboInOwl:hasExactSynonym "autosomal recessive congenital cataract 2" -MONDO:0002275 oboInOwl:hasExactSynonym "generalised atherosclerosis" -MONDO:0002275 oboInOwl:hasExactSynonym "generalized and unspecified atherosclerosis" MONDO:0019864 oboInOwl:hasExactSynonym "Isochromosome 21" MONDO:0019864 oboInOwl:hasExactSynonym "tetrasomy type 21" +MONDO:0002275 oboInOwl:hasExactSynonym "generalised atherosclerosis" +MONDO:0002275 oboInOwl:hasExactSynonym "generalized and unspecified atherosclerosis" MONDO:0010457 oboInOwl:hasExactSynonym "X-linked malformation and infantile lethality syndrome" MONDO:0010457 oboInOwl:hasExactSynonym "Ogden syndrome" MONDO:0010457 oboInOwl:hasExactSynonym "OGDNS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010457 oboInOwl:hasExactSynonym "Ogden syndrome, X-linked recessive, X-linked dominant" MONDO:0010457 oboInOwl:hasExactSynonym "N-alpha-acetyltransferase" MONDO:0010457 oboInOwl:hasExactSynonym "premature aging appearance-developmental delay-cardiac arrhythmia syndrome" MONDO:0010457 oboInOwl:hasExactSynonym "N-terminal acetyltransferase deficiency" -NCBITaxon:138949 oboInOwl:hasExactSynonym "Human enterovirus B" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name -NCBITaxon:138949 oboInOwl:hasExactSynonym "Enterovirus EV-B" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name MONDO:0020522 oboInOwl:hasExactSynonym "EDS VIIB" MONDO:0005651 oboInOwl:hasExactSynonym "arenaviral hemorrhagic fever" MONDO:0001342 oboInOwl:hasExactSynonym "dysgammaglobulinemia (disease)" @@ -100928,10 +101264,6 @@ MONDO:0013218 oboInOwl:hasExactSynonym "exudative vitreoretinopathy caused by mu MONDO:0003724 oboInOwl:hasExactSynonym "non-proliferative fibrocystic change of breast" MONDO:0003724 oboInOwl:hasExactSynonym "non-proliferative fibrocystic change" MONDO:0003724 oboInOwl:hasExactSynonym "breast fibrocystic change, non-proliferative type" -MONDO:0045063 oboInOwl:hasExactSynonym "adenoid cystic carcinoma of major salivary gland" -MONDO:0045063 oboInOwl:hasExactSynonym "major salivary gland adenoid cystic carcinoma" -MONDO:0045063 oboInOwl:hasExactSynonym "adenoid cystic carcinoma of the major salivary gland" -MONDO:0045063 oboInOwl:hasExactSynonym "major salivary gland adenoid cystic cancer" MONDO:0001563 oboInOwl:hasExactSynonym "disorder of acoustic nerve" MONDO:0001563 oboInOwl:hasExactSynonym "vestibulocochlear nerve disorder" MONDO:0001563 oboInOwl:hasExactSynonym "disorder of vestibulocochlear nerve" @@ -100942,11 +101274,16 @@ MONDO:0001563 oboInOwl:hasExactSynonym "disease or disorder of vestibulocochlear MONDO:0001563 oboInOwl:hasExactSynonym "vestibulocochlear nerve disease or disorder" MONDO:0001563 oboInOwl:hasExactSynonym "vestibulocochlear nerve disease" MONDO:0001563 oboInOwl:hasExactSynonym "acoustic nerve disorder" +MONDO:0045063 oboInOwl:hasExactSynonym "adenoid cystic carcinoma of major salivary gland" +MONDO:0045063 oboInOwl:hasExactSynonym "major salivary gland adenoid cystic carcinoma" +MONDO:0045063 oboInOwl:hasExactSynonym "adenoid cystic carcinoma of the major salivary gland" +MONDO:0045063 oboInOwl:hasExactSynonym "major salivary gland adenoid cystic cancer" MONDO:0007466 oboInOwl:hasExactSynonym "DNA, satellite, type 3" MONDO:0010517 oboInOwl:hasExactSynonym "ciliary dyskinesia, primary, 36, X-linked; CILD36" MONDO:0010517 oboInOwl:hasExactSynonym "PIH1D3 primary ciliary dyskinesia" MONDO:0010517 oboInOwl:hasExactSynonym "ciliary dyskinesia, primary, 36, X-linked" MONDO:0010517 oboInOwl:hasExactSynonym "CILD36" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010517 oboInOwl:hasExactSynonym "ciliary dyskinesia, primary, 36, X-linked, X-linked recessive" MONDO:0010517 oboInOwl:hasExactSynonym "primary ciliary dyskinesia caused by mutation in PIH1D3" GO:0003943 oboInOwl:hasExactSynonym "arylsulfatase B" GO:0003943 oboInOwl:hasExactSynonym "N-acetylgalactosamine-4-sulphatase activity" @@ -100968,16 +101305,16 @@ MONDO:0014659 oboInOwl:hasExactSynonym "infantile liver failure syndrome 2" MONDO:0003911 oboInOwl:hasExactSynonym "ciliary body mixed cell melanoma" MONDO:0003911 oboInOwl:hasExactSynonym "mixed cell uveal melanoma of ciliary body" MONDO:0003911 oboInOwl:hasExactSynonym "ciliary body mixed cell uveal melanoma" +MONDO:0019738 oboInOwl:hasExactSynonym "aHUS with H factor anomaly" +MONDO:0019738 oboInOwl:hasExactSynonym "atypical HUS with H factor anomaly" +MONDO:0019738 oboInOwl:hasExactSynonym "D-HUS with H factor anomaly" +MONDO:0019738 oboInOwl:hasExactSynonym "hemolytic-uremic syndrome without diarrhea with H factor anomaly" HP:0001635 oboInOwl:hasExactSynonym "CHF" http://purl.obolibrary.org/obo/hp.obo#abbreviation HP:0001635 oboInOwl:hasExactSynonym "Cardiac failure" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0001635 oboInOwl:hasExactSynonym "Heart failure" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0001635 oboInOwl:hasExactSynonym "Cardiac failures" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0001635 oboInOwl:hasExactSynonym "Cardiac insufficiency" HP:0001635 oboInOwl:hasExactSynonym "Chronic heart failure" -MONDO:0019738 oboInOwl:hasExactSynonym "aHUS with H factor anomaly" -MONDO:0019738 oboInOwl:hasExactSynonym "atypical HUS with H factor anomaly" -MONDO:0019738 oboInOwl:hasExactSynonym "D-HUS with H factor anomaly" -MONDO:0019738 oboInOwl:hasExactSynonym "hemolytic-uremic syndrome without diarrhea with H factor anomaly" MONDO:0020060 oboInOwl:hasExactSynonym "Sex-chromosome structural anomaly" SO:0000443 oboInOwl:hasExactSynonym "polymer attribute" MONDO:0002145 oboInOwl:hasExactSynonym "intersex conditions" @@ -100992,18 +101329,21 @@ MONDO:0002145 oboInOwl:hasExactSynonym "intersex" MONDO:0002145 oboInOwl:hasExactSynonym "differences of sex development" MONDO:0002145 oboInOwl:hasExactSynonym "sex differentiation disorder" MONDO:0008048 oboInOwl:hasExactSynonym "AD-CNM" -MONDO:0008048 oboInOwl:hasExactSynonym "centronuclear myopathy 1" MONDO:0008048 oboInOwl:hasExactSynonym "centronuclear myopathy, autosomal dominant" +MONDO:0008048 oboInOwl:hasExactSynonym "centronuclear myopathy 1" +MONDO:0008048 oboInOwl:hasExactSynonym "centronuclear myopathy, autosomal, modifier of" MONDO:0008048 oboInOwl:hasExactSynonym "autosomal dominant centronuclear myopathy" MONDO:0008048 oboInOwl:hasExactSynonym "myopathy, centronuclear, type 1" MONDO:0016267 oboInOwl:hasExactSynonym "body of uterus undifferentiated carcinoma" MONDO:0016267 oboInOwl:hasExactSynonym "endometrial undifferentiated carcinoma" MONDO:0026777 oboInOwl:hasExactSynonym "vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome" +MONDO:0026777 oboInOwl:hasExactSynonym "VEXAS syndrome, somatic" MONDO:0026777 oboInOwl:hasExactSynonym "VEXAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010914 oboInOwl:hasExactSynonym "Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form" MONDO:0010914 oboInOwl:hasExactSynonym "Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form" MONDO:0010914 oboInOwl:hasExactSynonym "carnitine palmitoyl transferase II deficiency, severe infantile form" MONDO:0010914 oboInOwl:hasExactSynonym "Carnitine palmitoyl transferase deficiency type 2, severe infantile form" +MONDO:0010914 oboInOwl:hasExactSynonym "CPT II deficiency, infantile" MONDO:0010914 oboInOwl:hasExactSynonym "CPTII, severe infantile form" MONDO:0010914 oboInOwl:hasExactSynonym "CPT2, severe infantile form" MONDO:0010914 oboInOwl:hasExactSynonym "CPTII, hepatocardiomuscular form" @@ -101085,6 +101425,7 @@ MONDO:0010459 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis caused by MONDO:0010459 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis 15" MONDO:0010459 oboInOwl:hasExactSynonym "UBQLN2 amyotrophic lateral sclerosis" MONDO:0010459 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis type 15" +MONDO:0010459 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant" MONDO:0010459 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" MONDO:0021322 oboInOwl:hasExactSynonym "meningeal cancer" MONDO:0021322 oboInOwl:hasExactSynonym "malignant meningeal tumor" @@ -101170,8 +101511,8 @@ MONDO:0017903 oboInOwl:hasExactSynonym "autosomal dominant MSMD due to partial I MONDO:0017903 oboInOwl:hasExactSynonym "autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency" MONDO:0017903 oboInOwl:hasExactSynonym "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency" MONDO:0017903 oboInOwl:hasExactSynonym "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2" -MONDO:0021543 oboInOwl:hasExactSynonym "gingiva hemangioma" MONDO:0021543 oboInOwl:hasExactSynonym "angioma of the gingiva" +MONDO:0021543 oboInOwl:hasExactSynonym "gingiva hemangioma" MONDO:0021543 oboInOwl:hasExactSynonym "hemangioma of the gingiva" MONDO:0021543 oboInOwl:hasExactSynonym "angioma of gingiva" MONDO:0021543 oboInOwl:hasExactSynonym "gum angioma" @@ -101219,8 +101560,8 @@ HP:0007700 oboInOwl:hasExactSynonym "Anterior chamber cleavage disorder" HP:0007700 oboInOwl:hasExactSynonym "Anterior segment ocular dysgenesis" MONDO:0014379 oboInOwl:hasExactSynonym "MRD28" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014379 oboInOwl:hasExactSynonym "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder" -MONDO:0014379 oboInOwl:hasExactSynonym "autosomal dominant intellectual disability 28" MONDO:0014379 oboInOwl:hasExactSynonym "HVDAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014379 oboInOwl:hasExactSynonym "autosomal dominant intellectual disability 28" MONDO:0014379 oboInOwl:hasExactSynonym "autosomal dominant mental retardation 28" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0008442 oboInOwl:hasExactSynonym "Antinolo-Nieto-Borrego syndrome" MONDO:0015945 oboInOwl:hasExactSynonym "PGSIRC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -101405,6 +101746,7 @@ GO:0031340 oboInOwl:hasExactSynonym "up regulation of vesicle fusion" GO:0031340 oboInOwl:hasExactSynonym "upregulation of vesicle fusion" MONDO:0013095 oboInOwl:hasExactSynonym "GLM6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013095 oboInOwl:hasExactSynonym "glioma susceptibility 6" +MONDO:0009518 oboInOwl:hasExactSynonym "leprosy, susceptibility to" MONDO:0009518 oboInOwl:hasExactSynonym "leprosy caused by mutation in TLR2" MONDO:0009518 oboInOwl:hasExactSynonym "leprosy, susceptibility to, 3" MONDO:0009518 oboInOwl:hasExactSynonym "TLR2 leprosy" @@ -101428,9 +101770,11 @@ MONDO:0044906 oboInOwl:hasExactSynonym "bladder urothelial papilloma" MONDO:0044906 oboInOwl:hasExactSynonym "urinary bladder urothelial papilloma" MONDO:0044906 oboInOwl:hasExactSynonym "bladder transitional cell papilloma" MONDO:0044906 oboInOwl:hasExactSynonym "urinary bladder transitional cell papilloma" +MONDO:0033562 oboInOwl:hasExactSynonym "neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia" MONDO:0012029 oboInOwl:hasExactSynonym "microcephaly 6, primary, autosomal recessive" MONDO:0012029 oboInOwl:hasExactSynonym "autosomal recessive primary microcephaly caused by mutation in CENPJ" MONDO:0012029 oboInOwl:hasExactSynonym "CENPJ autosomal recessive primary microcephaly" +MONDO:0011970 oboInOwl:hasExactSynonym "epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp" MONDO:0003022 oboInOwl:hasExactSynonym "pediatric angiosarcoma (disease)" MONDO:0003022 oboInOwl:hasExactSynonym "childhood angiosarcoma" MONDO:0003022 oboInOwl:hasExactSynonym "angiosarcoma (disease) of childhood" @@ -101456,8 +101800,10 @@ GO:0006644 oboInOwl:hasExactSynonym "phospholipid metabolism" MONDO:0008303 oboInOwl:hasExactSynonym "testotoxicosis" MONDO:0008303 oboInOwl:hasExactSynonym "LHCGR peripheral precocious puberty" MONDO:0008303 oboInOwl:hasExactSynonym "male-limited precocious puberty" +MONDO:0008303 oboInOwl:hasExactSynonym "precocious puberty, male" MONDO:0008303 oboInOwl:hasExactSynonym "familial gonadotropin-independent male-limited sexual precocity" MONDO:0008303 oboInOwl:hasExactSynonym "peripheral precocious puberty caused by mutation in LHCGR" +MONDO:0008303 oboInOwl:hasExactSynonym "leydig cell adenoma, somatic, with precocious puberty" MONDO:0008303 oboInOwl:hasExactSynonym "testotoxicosis, familial" MONDO:0008303 oboInOwl:hasExactSynonym "FMPP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014544 oboInOwl:hasExactSynonym "OI16" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -101534,6 +101880,7 @@ MONDO:0007308 oboInOwl:hasExactSynonym "CMT2A1" http://purl.obolibrary.org/obo/m MONDO:0007308 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B" MONDO:0007308 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2A" MONDO:0007308 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2A1" +MONDO:0007308 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 2A1" MONDO:0007308 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2A1" MONDO:0007308 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease neuronal type 2A1" MONDO:0013814 oboInOwl:hasExactSynonym "podoconiosis, susceptibility to" @@ -101546,6 +101893,7 @@ MONDO:0010509 oboInOwl:hasExactSynonym "MRX104" http://purl.obolibrary.org/obo/m MONDO:0010509 oboInOwl:hasExactSynonym "non-syndromic X-linked intellectual disability caused by mutation in FRMPD4" MONDO:0010509 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 104" MONDO:0010509 oboInOwl:hasExactSynonym "mental retardation, X-linked 104" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010509 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 104" MONDO:0010509 oboInOwl:hasExactSynonym "intellectual disability, X-linked 104" MONDO:0010509 oboInOwl:hasExactSynonym "FRMPD4 non-syndromic X-linked intellectual disability" HP:0000991 oboInOwl:hasExactSynonym "Yellow bumps of fatty deposits on skin" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -101621,6 +101969,7 @@ MONDO:0018071 oboInOwl:hasExactSynonym "trisomy type 18" MONDO:0018071 oboInOwl:hasExactSynonym "complete trisomy 18 syndrome" MONDO:0010874 oboInOwl:hasExactSynonym "enteropathy, familial, with villous edema and immunoglobulin G2 deficiency" MONDO:0011820 oboInOwl:hasExactSynonym "scoliosis, isolated, susceptibility to, 2" +MONDO:0011820 oboInOwl:hasExactSynonym "scoliosis, idiopathic 2" MONDO:0011820 oboInOwl:hasExactSynonym "IS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011385 oboInOwl:hasExactSynonym "intervertebral disc disease" MONDO:0011385 oboInOwl:hasExactSynonym "vertebral Disc degenerative disorder" @@ -101662,11 +102011,13 @@ MONDO:0015243 oboInOwl:hasExactSynonym "ABPA" http://purl.obolibrary.org/obo/mon MONDO:0015243 oboInOwl:hasExactSynonym "allergic aspergillosis" MONDO:0015243 oboInOwl:hasExactSynonym "pulmonary aspergillus disease" MONDO:0015243 oboInOwl:hasExactSynonym "Hinson-Pepys disease" +MONDO:0009276 oboInOwl:hasExactSynonym "giant platelet disorder, isolated" MONDO:0009276 oboInOwl:hasExactSynonym "thrombopathy, Bernard-Soulier" MONDO:0009276 oboInOwl:hasExactSynonym "Hemorrhagiparous thrombocytic dystrophy" MONDO:0009276 oboInOwl:hasExactSynonym "Bernard Soulier syndrome" MONDO:0009276 oboInOwl:hasExactSynonym "hemorrhagic dystrophic thrombocytopenia" MONDO:0009276 oboInOwl:hasExactSynonym "Bernard-Soulier syndrome" +MONDO:0009276 oboInOwl:hasExactSynonym "Bernard-Soulier syndrome, type A1 (recessive)" MONDO:0009276 oboInOwl:hasExactSynonym "Bernard - Soulier thrombopathy" MONDO:0009276 oboInOwl:hasExactSynonym "giant platelet syndrome" HP:0000802 oboInOwl:hasExactSynonym "Difficulty getting a full erection" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -101677,6 +102028,7 @@ MONDO:0042727 oboInOwl:hasExactSynonym "sacrococcygeal teratoma" MONDO:0010373 oboInOwl:hasExactSynonym "premature ovarian failure 2B" MONDO:0010373 oboInOwl:hasExactSynonym "primary ovarian failure caused by mutation in POF1B" MONDO:0010373 oboInOwl:hasExactSynonym "premature ovarian failure type 2B" +MONDO:0010373 oboInOwl:hasExactSynonym "premature ovarian failure 2B, X-linked recessive" MONDO:0010373 oboInOwl:hasExactSynonym "POF1B primary ovarian failure" GO:0017111 oboInOwl:hasExactSynonym "nucleoside triphosphatase activity" MONDO:0008079 oboInOwl:hasExactSynonym "neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome" @@ -101729,6 +102081,7 @@ MONDO:0005129 oboInOwl:hasExactSynonym "cataract" MONDO:0005129 oboInOwl:hasExactSynonym "cataract (disease)" MONDO:0005129 oboInOwl:hasExactSynonym "opacity of the lens" GO:0016101 oboInOwl:hasExactSynonym "diterpenoid metabolism" +MONDO:0020778 oboInOwl:hasExactSynonym "cone-rod dystrophy and hearing loss" CL:0002313 oboInOwl:hasExactSynonym "neuro-epithelial cell of prostate gland" CL:0002313 oboInOwl:hasExactSynonym "glandular cell of prostate" MONDO:0100330 oboInOwl:hasExactSynonym "latent infection" @@ -101736,16 +102089,16 @@ MONDO:0013993 oboInOwl:hasExactSynonym "non-syndromic pontocerebellar hypoplasia MONDO:0013993 oboInOwl:hasExactSynonym "pontocerebellar hypoplasia-46,XY disorder of sex development syndrome" MONDO:0013993 oboInOwl:hasExactSynonym "TOE1 non-syndromic pontocerebellar hypoplasia" MONDO:0013993 oboInOwl:hasExactSynonym "PCH7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017574 oboInOwl:hasExactSynonym "intestinal pseudo-obstruction, chronic" MONDO:0017574 oboInOwl:hasExactSynonym "cipo" +MONDO:0017574 oboInOwl:hasExactSynonym "intestinal pseudo-obstruction, chronic" MONDO:0017574 oboInOwl:hasExactSynonym "chronic intestinal pseudo-obstruction" MONDO:0001407 oboInOwl:hasExactSynonym "Ca trachea" MONDO:0001407 oboInOwl:hasExactSynonym "malignant trachea tumor" MONDO:0001407 oboInOwl:hasExactSynonym "malignant tumor of trachea" MONDO:0001407 oboInOwl:hasExactSynonym "malignant neoplasm of trachea" +MONDO:0001407 oboInOwl:hasExactSynonym "trachea cancer" MONDO:0001407 oboInOwl:hasExactSynonym "malignant tumor of the trachea" MONDO:0001407 oboInOwl:hasExactSynonym "malignant neoplasm of the trachea" -MONDO:0001407 oboInOwl:hasExactSynonym "trachea cancer" MONDO:0001407 oboInOwl:hasExactSynonym "malignant tracheal tumor" MONDO:0001407 oboInOwl:hasExactSynonym "malignant tracheal neoplasm" MONDO:0001407 oboInOwl:hasExactSynonym "malignant trachea neoplasm" @@ -101760,6 +102113,7 @@ MONDO:0013134 oboInOwl:hasExactSynonym "glaucoma 1, open angle, type O" MONDO:0013134 oboInOwl:hasExactSynonym "glaucoma 1, open angle, O" MONDO:0013134 oboInOwl:hasExactSynonym "NTF4 open-angle glaucoma" MONDO:0013134 oboInOwl:hasExactSynonym "open-angle glaucoma caused by mutation in NTF4" +MONDO:0013134 oboInOwl:hasExactSynonym "glaucoma 1, open angle, 1O" MONDO:0009688 oboInOwl:hasExactSynonym "autoimmune myasthenia gravis" MONDO:0009688 oboInOwl:hasExactSynonym "acquired myasthenia" MONDO:0009688 oboInOwl:hasExactSynonym "myasthenia gravis" @@ -101769,6 +102123,7 @@ MONDO:0003053 oboInOwl:hasExactSynonym "meningioma (disease) of choroid plexus" MONDO:0003053 oboInOwl:hasExactSynonym "choroid plexus meningioma" MONDO:0003053 oboInOwl:hasExactSynonym "choroid plexus meningioma (disease)" MONDO:0001741 oboInOwl:hasExactSynonym "hyperparathyroidism" +MONDO:0007644 oboInOwl:hasExactSynonym "immunoglobulin A deficiency, autosomal recessive, autosomal dominant, isolated cases" MONDO:0007644 oboInOwl:hasExactSynonym "IgAD1" HP:0000132 oboInOwl:hasExactSynonym "Abnormally heavy bleeding during menstruation" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0000132 oboInOwl:hasExactSynonym "Abnormally heavy periods" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -101810,15 +102165,18 @@ MONDO:0024500 oboInOwl:hasExactSynonym "duodenum neuroendocrine neoplasm" MONDO:0024500 oboInOwl:hasExactSynonym "neuroendocrine neoplasm of duodenum" CHEBI:169952 oboInOwl:hasExactSynonym "13-cis-retinoate" MONDO:0009946 oboInOwl:hasExactSynonym "UMPH1 deficiency" +MONDO:0009946 oboInOwl:hasExactSynonym "anemia, hemolytic, due to UMPH1 deficiency" MONDO:0009946 oboInOwl:hasExactSynonym "P5N deficiency" MONDO:0009946 oboInOwl:hasExactSynonym "uridine 5'-monophosphate hydrolase deficiency" MONDO:0010015 oboInOwl:hasExactSynonym "anterior segment dysgenesis 7" +MONDO:0010015 oboInOwl:hasExactSynonym "anterior segment dysgenesis 7, with sclerocornea" MONDO:0010015 oboInOwl:hasExactSynonym "anterior segment dysgenesis caused by mutation in PXDN" MONDO:0010015 oboInOwl:hasExactSynonym "CCMCO" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010015 oboInOwl:hasExactSynonym "sclerocornea with other ocular anomalies" MONDO:0010015 oboInOwl:hasExactSynonym "PXDN anterior segment dysgenesis" MONDO:0013238 oboInOwl:hasExactSynonym "17q23.1q23.2 microdeletion syndrome" MONDO:0013238 oboInOwl:hasExactSynonym "monosomy 17q23.1-q23.2" +MONDO:0013238 oboInOwl:hasExactSynonym "chromosome 17q23.1-q23.2 deletion syndrome, isolated cases" MONDO:0013238 oboInOwl:hasExactSynonym "monosomy 17q23.1q23.2" MONDO:0013238 oboInOwl:hasExactSynonym "Del(17)(q23.1q23.2)" MONDO:0013238 oboInOwl:hasExactSynonym "17q23.1-q23.2 microdeletion syndrome" @@ -101914,6 +102272,7 @@ MONDO:0008108 oboInOwl:hasExactSynonym "OCCS" http://purl.obolibrary.org/obo/mon MONDO:0008108 oboInOwl:hasExactSynonym "oculocerebrocutaneous syndrome" MONDO:0008108 oboInOwl:hasExactSynonym "Delleman-Oorthuys syndrome" MONDO:0008108 oboInOwl:hasExactSynonym "Delleman syndrome" +MONDO:0011824 oboInOwl:hasExactSynonym "autism susceptibility 8, isolated cases" MONDO:0011824 oboInOwl:hasExactSynonym "autism, susceptibility to, 8" MONDO:0011824 oboInOwl:hasExactSynonym "AUTS8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0048534 oboInOwl:hasExactSynonym "hemopoietic or lymphoid organ development" @@ -101922,13 +102281,13 @@ GO:0048534 oboInOwl:hasExactSynonym "haematopoietic or lymphoid organ developmen MONDO:0015235 oboInOwl:hasExactSynonym "De Die-Smulders-Vles-Fryns syndrome" MONDO:0017435 oboInOwl:hasExactSynonym "facio-genito-popliteal syndrome" MONDO:0017435 oboInOwl:hasExactSynonym "PPS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012396 oboInOwl:hasExactSynonym "monocarboxylate transporter 1 hyperinsulinism" MONDO:0012396 oboInOwl:hasExactSynonym "MCT1 hyperinsulinism" -MONDO:0012396 oboInOwl:hasExactSynonym "EIHI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012396 oboInOwl:hasExactSynonym "exercise-induced hyperinsulinemic hypoglycemia" +MONDO:0012396 oboInOwl:hasExactSynonym "EIHI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012396 oboInOwl:hasExactSynonym "hyperinsulinism due to SLC16A1 deficiency" MONDO:0012396 oboInOwl:hasExactSynonym "hyperinsulinism due to monocarboxylate transporter 1 deficiency" +MONDO:0012396 oboInOwl:hasExactSynonym "monocarboxylate transporter 1 hyperinsulinism" MONDO:0012396 oboInOwl:hasExactSynonym "hyperinsulinemic hypoglycemia, familial, type 7" -MONDO:0012396 oboInOwl:hasExactSynonym "hyperinsulinism due to SLC16A1 deficiency" MONDO:0019865 oboInOwl:hasExactSynonym "Mosaic trisomy type 4" MONDO:0019865 oboInOwl:hasExactSynonym "Mosaic trisomy chromosome 4" MONDO:0019865 oboInOwl:hasExactSynonym "trisomy 4 mosaicism" @@ -101951,6 +102310,7 @@ CL:0000806 oboInOwl:hasExactSynonym "DN2 alpha-beta immature T lymphocyte" CL:0000806 oboInOwl:hasExactSynonym "TN2 cell" MONDO:0016676 oboInOwl:hasExactSynonym "hyperzincemia and hypercalprotectinemia" MONDO:0013798 oboInOwl:hasExactSynonym "chromosome 16q22 deletion syndrome" +MONDO:0013798 oboInOwl:hasExactSynonym "chromosome 16q22 deletion syndrome, isolated cases" GO:0007610 oboInOwl:hasExactSynonym "behavioral response to stimulus" GO:0007610 oboInOwl:hasExactSynonym "behaviour" GO:0007610 oboInOwl:hasExactSynonym "behavioural response to stimulus" @@ -101965,6 +102325,7 @@ MONDO:0016855 oboInOwl:hasExactSynonym "Hirschsprung disease and intellectual di MONDO:0016855 oboInOwl:hasExactSynonym "Mowat-Wilson syndrome due to 2q22 microdeletion" MONDO:0011627 oboInOwl:hasExactSynonym "autism, susceptibility to, 5" MONDO:0011627 oboInOwl:hasExactSynonym "AUTS5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011627 oboInOwl:hasExactSynonym "intellectual developmental disorder with autism and speech delay" CL:0000336 oboInOwl:hasExactSynonym "medullary chromaffin cell of adrenal gland" MONDO:0020347 oboInOwl:hasExactSynonym "Guillain-Barre syndrome, acute inflammatory demyelinating polyradiculoneuropathic form" MONDO:0020347 oboInOwl:hasExactSynonym "AIDP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -101992,6 +102353,7 @@ GO:0050886 oboInOwl:hasExactSynonym "endocrine physiological process" MONDO:0005652 oboInOwl:hasExactSynonym "Arterivirus disease or disorder" MONDO:0005652 oboInOwl:hasExactSynonym "Arterivirus caused disease or disorder" MONDO:0008023 oboInOwl:hasExactSynonym "Furukawa-Takagi-Nakao syndrome" +GO:0033576 oboInOwl:hasExactSynonym "protein amino acid glycosylation in cytosol" MAXO:0000058 oboInOwl:hasExactSynonym "drug treatment" MAXO:0000058 oboInOwl:hasExactSynonym "pharmacological treatment" MAXO:0000058 oboInOwl:hasExactSynonym "medication therapy" @@ -101999,7 +102361,6 @@ MAXO:0000058 oboInOwl:hasExactSynonym "pharmaceutical treatment" MAXO:0000058 oboInOwl:hasExactSynonym "pharmaceutical drug" MAXO:0000058 oboInOwl:hasExactSynonym "treatment with drug" MAXO:0000058 oboInOwl:hasExactSynonym "drug therapy" -GO:0033576 oboInOwl:hasExactSynonym "protein amino acid glycosylation in cytosol" MONDO:0009394 oboInOwl:hasExactSynonym "juvenile Paget's disease" MONDO:0009394 oboInOwl:hasExactSynonym "familial osteoectasia" MONDO:0009394 oboInOwl:hasExactSynonym "hyperostosis corticalis deformans juvenilis" @@ -102032,6 +102393,7 @@ MONDO:0002323 oboInOwl:hasExactSynonym "Senile hemangioma" MONDO:0002966 oboInOwl:hasExactSynonym "spleen prolymphocytic leukemia" MONDO:0002966 oboInOwl:hasExactSynonym "prolymphocytic leukemia of spleen" MONDO:0002966 oboInOwl:hasExactSynonym "splenic manifestation of prolymphocytic leukemia" +MONDO:0006065 oboInOwl:hasExactSynonym "lactase persistence/nonpersistence" MONDO:0006065 oboInOwl:hasExactSynonym "adult lactase deficiency" MONDO:0006065 oboInOwl:hasExactSynonym "hypolactasia, adult type" MONDO:0006065 oboInOwl:hasExactSynonym "lactose intolerance, ADULT type" @@ -102103,6 +102465,8 @@ MONDO:0010046 oboInOwl:hasExactSynonym "spastic paraplegia with pigmentary abnor MONDO:0010046 oboInOwl:hasExactSynonym "spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome" MONDO:0010046 oboInOwl:hasExactSynonym "spastic paraplegia 23" MONDO:0010046 oboInOwl:hasExactSynonym "Lison syndrome" +MONDO:0011120 oboInOwl:hasExactSynonym "neural tube defects, susceptibility to" +MONDO:0011120 oboInOwl:hasExactSynonym "neural tube defects, folate-sensitive, susceptibility to" MONDO:0011120 oboInOwl:hasExactSynonym "neural tube defects, folate-sensitive" MONDO:0054700 oboInOwl:hasExactSynonym "proteasome-associated autoinflammatory syndrome 2" MONDO:0005522 oboInOwl:hasExactSynonym "small intestine cancer, NOS" @@ -102117,6 +102481,7 @@ GO:0006560 oboInOwl:hasExactSynonym "proline metabolism" MONDO:0019644 oboInOwl:hasExactSynonym "unilateral renal dysplasia" MONDO:0020126 oboInOwl:hasExactSynonym "rare peripheral neuropathy" MONDO:0011448 oboInOwl:hasExactSynonym "PPARG-related FPLD" +MONDO:0011448 oboInOwl:hasExactSynonym "insulin resistance, severe, digenic" MONDO:0011448 oboInOwl:hasExactSynonym "FPLD3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011448 oboInOwl:hasExactSynonym "familial partial lipodystrophy type 3" MONDO:0006759 oboInOwl:hasExactSynonym "peripheral nerve lesion of femoral nerve" @@ -102280,6 +102645,7 @@ MONDO:0010518 oboInOwl:hasExactSynonym "Wiskott Aldrich syndrome" MONDO:0010518 oboInOwl:hasExactSynonym "WAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010518 oboInOwl:hasExactSynonym "Wiskott syndrome" MONDO:0010518 oboInOwl:hasExactSynonym "Wiskott-Aldrich syndrome 1" +MONDO:0010518 oboInOwl:hasExactSynonym "Wiskott-Aldrich syndrome, X-linked recessive" MONDO:0010518 oboInOwl:hasExactSynonym "eczema-thrombocytopenia-immunodeficiency syndrome" MONDO:0010518 oboInOwl:hasExactSynonym "immunodeficiency 2" MONDO:0001956 oboInOwl:hasExactSynonym "idiopathic capillary leak syndrome" @@ -102327,11 +102693,11 @@ MONDO:0019739 oboInOwl:hasExactSynonym "hemolytic-uremic syndrome without diarrh MONDO:0019739 oboInOwl:hasExactSynonym "aHUS with anti-factor H antibodies" MONDO:0019739 oboInOwl:hasExactSynonym "D-HUS with anti-factor H antibodies" MONDO:0009246 oboInOwl:hasExactSynonym "Friedreich ataxia and congenital glaucoma" +MONDO:0002146 oboInOwl:hasExactSynonym "gonadotropin deficiency" +MONDO:0002146 oboInOwl:hasExactSynonym "hypogonadotropism" MONDO:0024305 oboInOwl:hasExactSynonym "pregnancy-related A-G syndrome" MONDO:0024305 oboInOwl:hasExactSynonym "acquired hyperprolactinemia (disease)" MONDO:0024305 oboInOwl:hasExactSynonym "Chiari-Frommel syndrome" -MONDO:0002146 oboInOwl:hasExactSynonym "gonadotropin deficiency" -MONDO:0002146 oboInOwl:hasExactSynonym "hypogonadotropism" MONDO:0008049 oboInOwl:hasExactSynonym "myopathy, distal, infantile-onset" MONDO:0019187 oboInOwl:hasExactSynonym "Rieger syndrome" MONDO:0019187 oboInOwl:hasExactSynonym "Rieger's anomaly" @@ -102368,6 +102734,7 @@ MONDO:0012340 oboInOwl:hasExactSynonym "celiac disease, susceptibility to, 2" MONDO:0012340 oboInOwl:hasExactSynonym "CELIAC2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011784 oboInOwl:hasExactSynonym "RNF213 Moyamoya disease" MONDO:0011784 oboInOwl:hasExactSynonym "Moyamoya disease 2" +MONDO:0011784 oboInOwl:hasExactSynonym "moyamoya disease 2, susceptibility to" MONDO:0011784 oboInOwl:hasExactSynonym "Moyamoya disease caused by mutation in RNF213" MONDO:0011784 oboInOwl:hasExactSynonym "Moyamoya disease type 2" MONDO:0006924 oboInOwl:hasExactSynonym "Bartonellaceae disease or disorder" @@ -102378,6 +102745,7 @@ MONDO:0013813 oboInOwl:hasExactSynonym "dystonia type 21" GO:1901564 oboInOwl:hasExactSynonym "organonitrogen compound metabolism" MONDO:0007498 oboInOwl:hasExactSynonym "ear exostoses" MONDO:0004932 oboInOwl:hasExactSynonym "null cell acute lymphoblastic leukemia" +MONDO:0010382 oboInOwl:hasExactSynonym "Fragile X tremor/ataxia syndrome, X-linked dominant" MONDO:0010382 oboInOwl:hasExactSynonym "FXTAS syndrome" MONDO:0021323 oboInOwl:hasExactSynonym "malignant chest wall neoplasm" MONDO:0021323 oboInOwl:hasExactSynonym "chest wall cancer" @@ -102390,6 +102758,7 @@ MONDO:0021323 oboInOwl:hasExactSynonym "malignant tumor of chest wall" MONDO:0011971 oboInOwl:hasExactSynonym "hyper-IgM syndrome due to uracil N-glycosylase" MONDO:0011971 oboInOwl:hasExactSynonym "hyper-IgM syndrome type 5" MONDO:0011971 oboInOwl:hasExactSynonym "UNG hyper-IgM syndrome" +MONDO:0011971 oboInOwl:hasExactSynonym "immunodeficiency with hyper IgM, type 5" MONDO:0011971 oboInOwl:hasExactSynonym "HIGM5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011971 oboInOwl:hasExactSynonym "hyper-IgM syndrome 5" MONDO:0011971 oboInOwl:hasExactSynonym "hyper-IgM syndrome caused by mutation in UNG" @@ -102492,12 +102861,12 @@ MONDO:0001369 oboInOwl:hasExactSynonym "laryngitis, chronic" GO:0016670 oboInOwl:hasExactSynonym "oxidoreductase activity, acting on sulphur group of donors, oxygen as acceptor" MONDO:0019904 oboInOwl:hasExactSynonym "rose cluster 3" MONDO:0019904 oboInOwl:hasExactSynonym "Ring chromosome type 3" -MONDO:0010161 oboInOwl:hasExactSynonym "hepatorenal tyrosinemia" MONDO:0010161 oboInOwl:hasExactSynonym "fumarylacetoacetase deficiency" -MONDO:0010161 oboInOwl:hasExactSynonym "type I tyrosinemia" -MONDO:0010161 oboInOwl:hasExactSynonym "FAH deficiency" MONDO:0010161 oboInOwl:hasExactSynonym "fumarylacetoacetate hydrolase deficiency" +MONDO:0010161 oboInOwl:hasExactSynonym "type I tyrosinemia" +MONDO:0010161 oboInOwl:hasExactSynonym "hepatorenal tyrosinemia" MONDO:0010161 oboInOwl:hasExactSynonym "tyrosinemia type I" +MONDO:0010161 oboInOwl:hasExactSynonym "FAH deficiency" GO:0051726 oboInOwl:hasExactSynonym "cell cycle modulation" GO:0051726 oboInOwl:hasExactSynonym "regulation of cell cycle progression" GO:0051726 oboInOwl:hasExactSynonym "cell cycle regulation" @@ -102589,15 +102958,15 @@ MONDO:0014324 oboInOwl:hasExactSynonym "pachyonychia congenita 3" MONDO:0014324 oboInOwl:hasExactSynonym "pachyonychia congenita type 3" MONDO:0014324 oboInOwl:hasExactSynonym "pachyonychia congenita caused by mutation in KRT6A" MONDO:0014324 oboInOwl:hasExactSynonym "KRT6A pachyonychia congenita" -MONDO:0006651 oboInOwl:hasExactSynonym "anterior uveitis" MONDO:0006651 oboInOwl:hasExactSynonym "anterior uveitis (disease)" -MONDO:0018072 oboInOwl:hasExactSynonym "persistent truncus arteriosus" +MONDO:0006651 oboInOwl:hasExactSynonym "anterior uveitis" MONDO:0018072 oboInOwl:hasExactSynonym "common truncus arteriosus" MONDO:0018072 oboInOwl:hasExactSynonym "TAC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018072 oboInOwl:hasExactSynonym "persistent truncus arteriosus (disease)" MONDO:0018072 oboInOwl:hasExactSynonym "common aorticopulmonary trunk" MONDO:0018072 oboInOwl:hasExactSynonym "truncus arteriosus" MONDO:0018072 oboInOwl:hasExactSynonym "common arterial trunk" +MONDO:0018072 oboInOwl:hasExactSynonym "persistent truncus arteriosus" GO:0005981 oboInOwl:hasExactSynonym "regulation of glycogen catabolism" GO:0005981 oboInOwl:hasExactSynonym "regulation of glycogen degradation" GO:0005981 oboInOwl:hasExactSynonym "regulation of glycogen breakdown" @@ -102609,14 +102978,15 @@ MONDO:0003579 oboInOwl:hasExactSynonym "retinal nerve fiber bundle defects" MONDO:0003579 oboInOwl:hasExactSynonym "retinal nerve fiber bundle deficiency" MONDO:0003579 oboInOwl:hasExactSynonym "disorder of nerve fiber layer of retina" MONDO:0003579 oboInOwl:hasExactSynonym "disease or disorder of nerve fiber layer of retina" -MONDO:0008703 oboInOwl:hasExactSynonym "acromesomelic dysplasia, Grebe type" -MONDO:0008703 oboInOwl:hasExactSynonym "Langer-Saldino achondrogenesis" -MONDO:0008703 oboInOwl:hasExactSynonym "Grebe chondrodysplasia" +MONDO:0008703 oboInOwl:hasExactSynonym "hypochondrogenesis" +MONDO:0008703 oboInOwl:hasExactSynonym "type II achondrogenesis" MONDO:0008703 oboInOwl:hasExactSynonym "GREBE chondrodysplasia" +MONDO:0008703 oboInOwl:hasExactSynonym "Grebe chondrodysplasia" +MONDO:0008703 oboInOwl:hasExactSynonym "acromesomelic dysplasia, Grebe type" MONDO:0008703 oboInOwl:hasExactSynonym "Grebe dysplasia" -MONDO:0008703 oboInOwl:hasExactSynonym "type II achondrogenesis" +MONDO:0008703 oboInOwl:hasExactSynonym "Langer-Saldino achondrogenesis" +MONDO:0008703 oboInOwl:hasExactSynonym "acromesomelic dysplasia 2A" MONDO:0008703 oboInOwl:hasExactSynonym "chondrodysplasia, Grebe type" -MONDO:0008703 oboInOwl:hasExactSynonym "hypochondrogenesis" MONDO:0015244 oboInOwl:hasExactSynonym "arca" MONDO:0015244 oboInOwl:hasExactSynonym "cerebellar ataxia, autosomal recessive" MONDO:0006955 oboInOwl:hasExactSynonym "RHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -102687,20 +103057,20 @@ MONDO:0004043 oboInOwl:hasExactSynonym "ureter inverted papilloma" MONDO:0004043 oboInOwl:hasExactSynonym "inverted papilloma of ureter" MONDO:0004043 oboInOwl:hasExactSynonym "ureteral inverted papilloma" MONDO:0004043 oboInOwl:hasExactSynonym "inverted papilloma of the ureter" -MONDO:0018352 oboInOwl:hasExactSynonym "squamous cell carcinoma of the penis" +MONDO:0011636 oboInOwl:hasExactSynonym "Diamond-Blackfan anemia 2" +MONDO:0018352 oboInOwl:hasExactSynonym "penile squamous carcinoma (epidermoid)" MONDO:0018352 oboInOwl:hasExactSynonym "epidermoid carcinoma of the penis" MONDO:0018352 oboInOwl:hasExactSynonym "epidermoid cell carcinoma of penis" MONDO:0018352 oboInOwl:hasExactSynonym "penile epidermoid cell carcinoma" -MONDO:0018352 oboInOwl:hasExactSynonym "penile squamous cell carcinoma" MONDO:0018352 oboInOwl:hasExactSynonym "epidermoid carcinoma of penis" -MONDO:0018352 oboInOwl:hasExactSynonym "penile epidermoid carcinoma" MONDO:0018352 oboInOwl:hasExactSynonym "penile squamous car.(epidermoid)" +MONDO:0018352 oboInOwl:hasExactSynonym "penile squamous cell cancer" +MONDO:0018352 oboInOwl:hasExactSynonym "squamous cell carcinoma of the penis" +MONDO:0018352 oboInOwl:hasExactSynonym "penile squamous cell carcinoma" MONDO:0018352 oboInOwl:hasExactSynonym "penis squamous cell carcinoma" -MONDO:0018352 oboInOwl:hasExactSynonym "penile squamous carcinoma (epidermoid)" MONDO:0018352 oboInOwl:hasExactSynonym "squamous cell carcinoma of penis" -MONDO:0018352 oboInOwl:hasExactSynonym "penile squamous cell cancer" +MONDO:0018352 oboInOwl:hasExactSynonym "penile epidermoid carcinoma" MONDO:0018352 oboInOwl:hasExactSynonym "epidermoid cell carcinoma of the penis" -MONDO:0011636 oboInOwl:hasExactSynonym "Diamond-Blackfan anemia 2" MONDO:0006243 oboInOwl:hasExactSynonym "hepatoid adenocarcinoma" MONDO:0006243 oboInOwl:hasExactSynonym "hepatoid carcinoma" MONDO:0008170 oboInOwl:hasExactSynonym "malignant tumor of the ovary" @@ -102716,6 +103086,7 @@ MONDO:0008170 oboInOwl:hasExactSynonym "cancer of the ovary" MONDO:0008170 oboInOwl:hasExactSynonym "ovarian cancer" MONDO:0008170 oboInOwl:hasExactSynonym "malignant neoplasm of the ovary" MONDO:0008170 oboInOwl:hasExactSynonym "malignant ovary neoplasm" +MONDO:0008170 oboInOwl:hasExactSynonym "ovarian cancer, somatic" MONDO:0008506 oboInOwl:hasExactSynonym "symphalangism of toes" MONDO:0020660 oboInOwl:hasExactSynonym "osteoblastic osteosarcoma" MONDO:0013994 oboInOwl:hasExactSynonym "JBTS20" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -102726,6 +103097,7 @@ MONDO:0013994 oboInOwl:hasExactSynonym "Joubert syndrome type 20" CHEBI:37327 oboInOwl:hasExactSynonym "benzo[g]pteridine-2,4(3H,10H)-dione" MONDO:0007309 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 1A" MONDO:0007309 oboInOwl:hasExactSynonym "CMT1A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007309 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 1A" MONDO:0007309 oboInOwl:hasExactSynonym "microduplication 17p12" MONDO:0007309 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 1A" MONDO:0007309 oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy 1A" @@ -102819,6 +103191,7 @@ MONDO:0006886 oboInOwl:hasExactSynonym "papillary and follicular carcinoma" MONDO:0006886 oboInOwl:hasExactSynonym "papillary and follicular adenocarcinoma" MONDO:0016581 oboInOwl:hasExactSynonym "conotruncal heart malformations" MONDO:0016581 oboInOwl:hasExactSynonym "Taussig-Bing syndrome or defect" +MONDO:0016581 oboInOwl:hasExactSynonym "conotruncal heart malformations, variable" MONDO:0012145 oboInOwl:hasExactSynonym "macular Degeneration, age-related, type 3" MONDO:0012145 oboInOwl:hasExactSynonym "age-related macular degeneration caused by mutation in FBLN5" MONDO:0012145 oboInOwl:hasExactSynonym "macular degeneration, age-related, 3" @@ -102851,6 +103224,7 @@ MONDO:0010016 oboInOwl:hasExactSynonym "SOST sclerosteosis" MONDO:0010016 oboInOwl:hasExactSynonym "sclerosteosis caused by mutation in SOST" MONDO:0010016 oboInOwl:hasExactSynonym "sclerosteosis type 1" MONDO:0010016 oboInOwl:hasExactSynonym "sclerosteosis 1" +MONDO:0013586 oboInOwl:hasExactSynonym "chitotriosidase deficiency" MONDO:0013586 oboInOwl:hasExactSynonym "Chitotriosidase deficiency" MONDO:0013239 oboInOwl:hasExactSynonym "hereditary spastic paraplegia type 41" MONDO:0013239 oboInOwl:hasExactSynonym "autosomal dominant spastic paraplegia 41" @@ -102867,6 +103241,7 @@ MONDO:0021777 oboInOwl:hasExactSynonym "acute rheumatic heart disease" MONDO:0009277 oboInOwl:hasExactSynonym "Primary Congenital glaucoma 3A" MONDO:0009277 oboInOwl:hasExactSynonym "glaucoma 3, primary congenital, type a" MONDO:0009277 oboInOwl:hasExactSynonym "simple buphthalmos" +MONDO:0009277 oboInOwl:hasExactSynonym "glaucoma 3A, primary open angle, congenital, juvenile, or adult onset" MONDO:0012626 oboInOwl:hasExactSynonym "Meckel-Gruber syndrome, type 4" MONDO:0012626 oboInOwl:hasExactSynonym "Meckel syndrome caused by mutation in CEP290" MONDO:0012626 oboInOwl:hasExactSynonym "Meckel syndrome, type 4" @@ -102929,6 +103304,7 @@ MONDO:0017228 oboInOwl:hasExactSynonym "duct-centric pancreatitis" MONDO:0017228 oboInOwl:hasExactSynonym "AIP type 2" MONDO:0008109 oboInOwl:hasExactSynonym "ocular cicatricial pemphigoid" MONDO:0018786 oboInOwl:hasExactSynonym "PADMAL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013135 oboInOwl:hasExactSynonym "hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease" MONDO:0013135 oboInOwl:hasExactSynonym "familial hemophagocytic lymphohistiocytosis type 5" MONDO:0013135 oboInOwl:hasExactSynonym "HPLH5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013135 oboInOwl:hasExactSynonym "STXBP2 genetic hemophagocytic lymphohistiocytosis" @@ -102984,13 +103360,13 @@ GO:0002504 oboInOwl:hasExactSynonym "peptide or polysaccharide antigen processin MONDO:0011236 oboInOwl:hasExactSynonym "hyperinsulinemic hypoglycemia, familial, type 3" MONDO:0011236 oboInOwl:hasExactSynonym "hyperinsulinemic hypoglycemia due to glucokinase deficiency" MONDO:0016856 oboInOwl:hasExactSynonym "Hirschsprung disease and intellectual disability due to a ZEB2 point mutation" +MONDO:0011628 oboInOwl:hasExactSynonym "propionyl-CoA carboxylase deficiency" MONDO:0011628 oboInOwl:hasExactSynonym "ketotic II glycinemia" +MONDO:0011628 oboInOwl:hasExactSynonym "ketotic glycinemia" MONDO:0011628 oboInOwl:hasExactSynonym "propionic acidemia" MONDO:0011628 oboInOwl:hasExactSynonym "GLYCINEMIA, ketotic" -MONDO:0011628 oboInOwl:hasExactSynonym "propionic aciduria" -MONDO:0011628 oboInOwl:hasExactSynonym "propionyl-CoA carboxylase deficiency" -MONDO:0011628 oboInOwl:hasExactSynonym "ketotic glycinemia" MONDO:0011628 oboInOwl:hasExactSynonym "ketotic hyperglycinemia" +MONDO:0011628 oboInOwl:hasExactSynonym "propionic aciduria" MONDO:0015641 oboInOwl:hasExactSynonym "BIMSE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009221 oboInOwl:hasExactSynonym "PFFD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009221 oboInOwl:hasExactSynonym "FFU complex" @@ -103004,6 +103380,7 @@ MONDO:0003726 oboInOwl:hasExactSynonym "breast apocrine adenosis" MONDO:0003726 oboInOwl:hasExactSynonym "apocrine adenosis of the breast" MONDO:0007468 oboInOwl:hasExactSynonym "DNA, satellite, alpha type" MONDO:0013807 oboInOwl:hasExactSynonym "CSNB1E" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013807 oboInOwl:hasExactSynonym "night blindness, congenital stationary (complete), 1E, autosomal recessive" MONDO:0013807 oboInOwl:hasExactSynonym "congenital stationary night blindness type 1E" MONDO:0013807 oboInOwl:hasExactSynonym "congenital stationary night blindness caused by mutation in GPR179" MONDO:0013807 oboInOwl:hasExactSynonym "GPR179 congenital stationary night blindness" @@ -103058,6 +103435,7 @@ MONDO:0014051 oboInOwl:hasExactSynonym "cardioencephalomyopathy, fatal infantile MONDO:0014051 oboInOwl:hasExactSynonym "fatal infantile encephalocardiomyopathy caused by mutation in COX15" MONDO:0014051 oboInOwl:hasExactSynonym "COX15 fatal infantile encephalocardiomyopathy" MONDO:0014051 oboInOwl:hasExactSynonym "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2" +MONDO:0014051 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 6" MONDO:0010916 oboInOwl:hasExactSynonym "polycystic kidney disease type 3" MONDO:0010916 oboInOwl:hasExactSynonym "Apkd3" MONDO:0010916 oboInOwl:hasExactSynonym "polycystic kidney disease, type 3" @@ -103077,6 +103455,7 @@ MONDO:0004941 oboInOwl:hasExactSynonym "eosinophilia myalgia syndrome" ECTO:0000207 oboInOwl:hasExactSynonym "exposure to carbon monoxide" MONDO:0013292 oboInOwl:hasExactSynonym "4q21 microdeletion syndrome" MONDO:0013292 oboInOwl:hasExactSynonym "monosomy 4q21" +MONDO:0013292 oboInOwl:hasExactSynonym "chromosome 4q21 deletion syndrome, isolated cases" MONDO:0013292 oboInOwl:hasExactSynonym "Del(4)(q21)" MONDO:0013292 oboInOwl:hasExactSynonym "chromosome 4q21 deletion syndrome" MONDO:0011980 oboInOwl:hasExactSynonym "autoimmune thyroid disease, susceptibility to, type 1" @@ -103096,13 +103475,13 @@ MONDO:0011121 oboInOwl:hasExactSynonym "paragangliomas 2" MONDO:0011121 oboInOwl:hasExactSynonym "SDHAF2 paraganglioma" MONDO:0011121 oboInOwl:hasExactSynonym "paragangliomas type 2" MONDO:0011121 oboInOwl:hasExactSynonym "paraganglioma caused by mutation in SDHAF2" -MONDO:0009949 oboInOwl:hasExactSynonym "pyruvate carboxylase deficiency disease" -MONDO:0009949 oboInOwl:hasExactSynonym "Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency" MONDO:0009949 oboInOwl:hasExactSynonym "Leigh syndrome due to pyruvate carboxylase deficiency" MONDO:0009949 oboInOwl:hasExactSynonym "deficiency of pyruvic carboxylase" -MONDO:0009949 oboInOwl:hasExactSynonym "ataxia with lactic acidosis type II" +MONDO:0009949 oboInOwl:hasExactSynonym "pyruvate carboxylase deficiency disease" MONDO:0009949 oboInOwl:hasExactSynonym "ataxia with lactic acidosis type 2" +MONDO:0009949 oboInOwl:hasExactSynonym "Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency" MONDO:0009949 oboInOwl:hasExactSynonym "Leigh syndrome due to PC deficiency" +MONDO:0009949 oboInOwl:hasExactSynonym "ataxia with lactic acidosis type II" MONDO:0001040 oboInOwl:hasExactSynonym "inflammation of nasopharynx" MONDO:0001040 oboInOwl:hasExactSynonym "nasopharynx inflammation" MONDO:0001040 oboInOwl:hasExactSynonym "chronic nasopharyngitis" @@ -103214,11 +103593,11 @@ MONDO:0002969 oboInOwl:hasExactSynonym "malignant neoplasm of the ciliary body" MONDO:0002969 oboInOwl:hasExactSynonym "ciliary body cancer" MONDO:0002969 oboInOwl:hasExactSynonym "cancer of ciliary body" MONDO:0019365 oboInOwl:hasExactSynonym "scrub mite-borne typhus" -MONDO:0019365 oboInOwl:hasExactSynonym "Kedani fever" -MONDO:0019365 oboInOwl:hasExactSynonym "Japanese river fever" -MONDO:0019365 oboInOwl:hasExactSynonym "tsutsugamushi disease" MONDO:0019365 oboInOwl:hasExactSynonym "tsutsugamushi fever" +MONDO:0019365 oboInOwl:hasExactSynonym "Japanese river fever" MONDO:0019365 oboInOwl:hasExactSynonym "tsutsugamushi" +MONDO:0019365 oboInOwl:hasExactSynonym "tsutsugamushi disease" +MONDO:0019365 oboInOwl:hasExactSynonym "Kedani fever" MONDO:0030281 oboInOwl:hasExactSynonym "arthrogryposis multiplex congenita 6" MONDO:0030281 oboInOwl:hasExactSynonym "AMC6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005289 oboInOwl:hasExactSynonym "paranasal sinus neoplasms" @@ -103258,6 +103637,7 @@ MONDO:0009611 oboInOwl:hasExactSynonym "MGA4" http://purl.obolibrary.org/obo/mon MONDO:0009611 oboInOwl:hasExactSynonym "MGCA4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009611 oboInOwl:hasExactSynonym "MGA type IV" MONDO:0009611 oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type IV" +MONDO:0010519 oboInOwl:hasExactSynonym "alpha-thalassemia/mental retardation syndrome, X-linked dominant" MONDO:0010519 oboInOwl:hasExactSynonym "Alpha thalassemia X-linked mental retardation syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010519 oboInOwl:hasExactSynonym "Alpha thalassemia/mental retardation syndrome X-linked" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010519 oboInOwl:hasExactSynonym "ATR, nondeletion type" @@ -103303,6 +103683,7 @@ MONDO:0010383 oboInOwl:hasExactSynonym "marker X syndrome" MONDO:0010383 oboInOwl:hasExactSynonym "FraX syndrome" MONDO:0010383 oboInOwl:hasExactSynonym "Martin-Bell syndrome" MONDO:0010383 oboInOwl:hasExactSynonym "fragile X mental retardation syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010383 oboInOwl:hasExactSynonym "Fragile X syndrome, X-linked dominant" MONDO:0010383 oboInOwl:hasExactSynonym "fragile X intellectual disability syndrome" GO:0002674 oboInOwl:hasExactSynonym "downregulation of acute inflammatory response" GO:0002674 oboInOwl:hasExactSynonym "down-regulation of acute inflammatory response" @@ -103319,6 +103700,7 @@ CHEBI:15841 oboInOwl:hasExactSynonym "Polypeptide" MONDO:0007171 oboInOwl:hasExactSynonym "atrial standstill 1" MONDO:0007171 oboInOwl:hasExactSynonym "atrial standstill type 1" MONDO:0007171 oboInOwl:hasExactSynonym "GJA5 atrial standstill" +MONDO:0007171 oboInOwl:hasExactSynonym "atrial standstill, digenic (GJA5/SCN5A)" MONDO:0007171 oboInOwl:hasExactSynonym "atrial standstill caused by mutation in GJA5" GO:0009101 oboInOwl:hasExactSynonym "glycoprotein biosynthesis" GO:0009101 oboInOwl:hasExactSynonym "glycoprotein synthesis" @@ -103354,6 +103736,7 @@ MONDO:0003978 oboInOwl:hasExactSynonym "colonic Oat cell carcinoma" MONDO:0003978 oboInOwl:hasExactSynonym "colon Oat cell carcinoma" MONDO:0006925 oboInOwl:hasExactSynonym "Fusobacteriaceae disease or disorder" MONDO:0006925 oboInOwl:hasExactSynonym "Fusobacteriaceae caused disease or disorder" +MONDO:0010570 oboInOwl:hasExactSynonym "craniofrontonasal dysplasia, X-linked dominant" MONDO:0010570 oboInOwl:hasExactSynonym "craniofrontonasal dysplasia" MONDO:0010570 oboInOwl:hasExactSynonym "CFND" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010570 oboInOwl:hasExactSynonym "CFNS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -103377,18 +103760,19 @@ MONDO:0021324 oboInOwl:hasExactSynonym "cancer of abdominal part of esophagus" MONDO:0021324 oboInOwl:hasExactSynonym "malignant tumor of the abdominal esophagus" MONDO:0021324 oboInOwl:hasExactSynonym "malignant abdominal part of esophagus neoplasm" MONDO:0021324 oboInOwl:hasExactSynonym "malignant neoplasm of abdominal part of esophagus" -MONDO:0013144 oboInOwl:hasExactSynonym "congenital antithrombin III deficiency" -MONDO:0013144 oboInOwl:hasExactSynonym "hereditary antithrombin deficiency" -MONDO:0013144 oboInOwl:hasExactSynonym "antithrombin 3 deficiency" +MONDO:0013144 oboInOwl:hasExactSynonym "antithrombin III deficiency" MONDO:0013144 oboInOwl:hasExactSynonym "hereditary thrombophilia due to congenital antithrombin 3 deficiency" MONDO:0013144 oboInOwl:hasExactSynonym "AT III deficiency" +MONDO:0013144 oboInOwl:hasExactSynonym "hereditary antithrombin deficiency" +MONDO:0013144 oboInOwl:hasExactSynonym "congenital AT-III deficiency" MONDO:0013144 oboInOwl:hasExactSynonym "hereditary thrombophilia due to congenital antithrombin deficiency" MONDO:0013144 oboInOwl:hasExactSynonym "AT3D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013144 oboInOwl:hasExactSynonym "antithrombin III deficiency" -MONDO:0013144 oboInOwl:hasExactSynonym "thrombophilia due to antithrombin III deficiency" -MONDO:0013144 oboInOwl:hasExactSynonym "thrombophilia due to antithrombin 3 deficiency" -MONDO:0013144 oboInOwl:hasExactSynonym "congenital AT-III deficiency" MONDO:0013144 oboInOwl:hasExactSynonym "inherited antithrombin deficiency" +MONDO:0013144 oboInOwl:hasExactSynonym "thrombophilia due to antithrombin 3 deficiency" +MONDO:0013144 oboInOwl:hasExactSynonym "thrombophilia due to antithrombin III deficiency" +MONDO:0013144 oboInOwl:hasExactSynonym "congenital antithrombin III deficiency" +MONDO:0013144 oboInOwl:hasExactSynonym "thrombophilia 7 due to antithrombin III deficiency" +MONDO:0013144 oboInOwl:hasExactSynonym "antithrombin 3 deficiency" MONDO:0003024 oboInOwl:hasExactSynonym "breast hemangiosarcoma" MONDO:0003024 oboInOwl:hasExactSynonym "angiosarcoma of the breast" MONDO:0003024 oboInOwl:hasExactSynonym "angiosarcoma (disease) of breast" @@ -103423,6 +103807,7 @@ MONDO:0007108 oboInOwl:hasExactSynonym "anal canal carcinoma" MONDO:0013331 oboInOwl:hasExactSynonym "factor 5 and Factor VIII, combined deficiency of, type 2" MONDO:0013331 oboInOwl:hasExactSynonym "MCFD2 combined deficiency of factor V and factor VIII" MONDO:0013331 oboInOwl:hasExactSynonym "factor 5 and Factor VIII, combined deficiency of, 2" +MONDO:0013331 oboInOwl:hasExactSynonym "factor V and factor VIII, combined deficiency of" MONDO:0013331 oboInOwl:hasExactSynonym "combined deficiency of factor V and factor VIII caused by mutation in MCFD2" MONDO:0014937 oboInOwl:hasExactSynonym "AN2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014937 oboInOwl:hasExactSynonym "aniridia 2" @@ -103434,10 +103819,12 @@ MONDO:0008515 oboInOwl:hasExactSynonym "LMBR1 non-syndromic syndactyly" MONDO:0032858 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81" MONDO:0032858 oboInOwl:hasExactSynonym "DEE81" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032858 oboInOwl:hasExactSynonym "EIEE81" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032858 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 81" MONDO:0032858 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 81" MONDO:0024308 oboInOwl:hasExactSynonym "PXE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024308 oboInOwl:hasExactSynonym "pseudoxanthoma elasticum" MONDO:0009026 oboInOwl:hasExactSynonym "Costello syndrome" +MONDO:0009026 oboInOwl:hasExactSynonym "congenital myopathy with excess of muscle spindles" MONDO:0009026 oboInOwl:hasExactSynonym "FCS syndrome" MONDO:0009026 oboInOwl:hasExactSynonym "faciocutaneoskeletal syndrome" MONDO:0014733 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 4K" @@ -103462,10 +103849,12 @@ MONDO:0006400 oboInOwl:hasExactSynonym "acinic cell neoplasm of salivary gland" HP:0003521 oboInOwl:hasExactSynonym "Disproportionate short-trunked short stature" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0003521 oboInOwl:hasExactSynonym "Disproportionate short-trunked dwarfism" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0003521 oboInOwl:hasExactSynonym "Short-trunked dwarfism" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0008702 oboInOwl:hasExactSynonym "achondrogenesis, type II or hypochondrogenesis" MONDO:0008702 oboInOwl:hasExactSynonym "achondrogenesis, Langer-Saldino type" MONDO:0008702 oboInOwl:hasExactSynonym "achondrogenesis type II" HP:0000532 oboInOwl:hasExactSynonym "Chorioretinal abnormality" ECTO:9002146 oboInOwl:hasExactSynonym "exposure to acid" +MONDO:0026723 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 108, X-linked recessive" MONDO:0019060 oboInOwl:hasExactSynonym "tumor of the bone" MONDO:0019060 oboInOwl:hasExactSynonym "bone tumor" MONDO:0019060 oboInOwl:hasExactSynonym "neoplasm of bone" @@ -103476,8 +103865,8 @@ MONDO:0019060 oboInOwl:hasExactSynonym "tumor of bone" MONDO:0019060 oboInOwl:hasExactSynonym "neoplasm of bone tissue" MONDO:0019060 oboInOwl:hasExactSynonym "bone tumors" MONDO:0019060 oboInOwl:hasExactSynonym "neoplasm of the bone" -MONDO:0019060 oboInOwl:hasExactSynonym "bone neoplasm" MONDO:0019060 oboInOwl:hasExactSynonym "bone tissue neoplasm" +MONDO:0019060 oboInOwl:hasExactSynonym "bone neoplasm" MONDO:0019060 oboInOwl:hasExactSynonym "tumor of bone tissue" MONDO:0019060 oboInOwl:hasExactSynonym "bone neoplasms" MONDO:0012775 oboInOwl:hasExactSynonym "thrombocytopenia type 4" @@ -103485,6 +103874,7 @@ MONDO:0012775 oboInOwl:hasExactSynonym "CYCS thrombocytopenia" MONDO:0012775 oboInOwl:hasExactSynonym "thrombocytopenia caused by mutation in CYCS" MONDO:0012775 oboInOwl:hasExactSynonym "thrombocytopenia 4" MONDO:0007841 oboInOwl:hasExactSynonym "ischiopatellar dysplasia" +MONDO:0007841 oboInOwl:hasExactSynonym "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension" MONDO:0007841 oboInOwl:hasExactSynonym "small patella syndrome" MONDO:0007841 oboInOwl:hasExactSynonym "coxopodopatellar syndrome" MONDO:0007841 oboInOwl:hasExactSynonym "Scott-Taor syndrome" @@ -103526,6 +103916,7 @@ CHEBI:37022 oboInOwl:hasExactSynonym "amino-acid anion" MONDO:0010993 oboInOwl:hasExactSynonym "Harrod syndrome" MONDO:0010993 oboInOwl:hasExactSynonym "cranio-facio-digito-genital syndrome" MONDO:0011635 oboInOwl:hasExactSynonym "goiter, multinodular 3" +MONDO:0011635 oboInOwl:hasExactSynonym "goiter, multinodular, 3" MONDO:0011635 oboInOwl:hasExactSynonym "MNG3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016887 oboInOwl:hasExactSynonym "partial monosomy of the short arm of chromosome 5" MONDO:0016887 oboInOwl:hasExactSynonym "partial deletion of the short arm of chromosome type 5" @@ -103751,14 +104142,14 @@ MONDO:0018177 oboInOwl:hasExactSynonym "glioblastoma multiforme (disease)" MONDO:0018177 oboInOwl:hasExactSynonym "spongioblastoma multiforme" MONDO:0018177 oboInOwl:hasExactSynonym "GBM (glioblastoma)" MONDO:0008288 oboInOwl:hasExactSynonym "popliteal cyst" -MONDO:0018353 oboInOwl:hasExactSynonym "refractory CD" -MONDO:0018353 oboInOwl:hasExactSynonym "refractory sprue" -MONDO:0018353 oboInOwl:hasExactSynonym "intractable celiac sprue" +MONDO:0011637 oboInOwl:hasExactSynonym "Sener syndrome" MONDO:0004044 oboInOwl:hasExactSynonym "ureter urothelial papilloma" ECTO:1000000 oboInOwl:hasExactSynonym "environmental condition exposure" GO:2000147 oboInOwl:hasExactSynonym "positive regulation of movement of a cell" GO:2000147 oboInOwl:hasExactSynonym "positive regulation of cell locomotion" -MONDO:0011637 oboInOwl:hasExactSynonym "Sener syndrome" +MONDO:0018353 oboInOwl:hasExactSynonym "refractory CD" +MONDO:0018353 oboInOwl:hasExactSynonym "refractory sprue" +MONDO:0018353 oboInOwl:hasExactSynonym "intractable celiac sprue" MONDO:0017797 oboInOwl:hasExactSynonym "rare odontogenic neoplasm" MONDO:0006244 oboInOwl:hasExactSynonym "HER2 Overexpressing subtype of breast carcinoma" MONDO:0006244 oboInOwl:hasExactSynonym "HER2 Overexpressing breast carcinoma" @@ -103794,6 +104185,7 @@ MONDO:0010878 oboInOwl:hasExactSynonym "autosomal dominant familial spastic para MONDO:0010878 oboInOwl:hasExactSynonym "SPG6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010878 oboInOwl:hasExactSynonym "hereditary spastic paraplegia caused by mutation in NIPA1" MONDO:0005485 oboInOwl:hasExactSynonym "psychosis" +MONDO:0009948 oboInOwl:hasExactSynonym "pyropoikilocytosis" MONDO:0009948 oboInOwl:hasExactSynonym "pyropoikilocytosis, hereditary" MONDO:0014798 oboInOwl:hasExactSynonym "BDA1D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014798 oboInOwl:hasExactSynonym "brachydactyly type A1 caused by mutation in BMPR1B" @@ -103839,9 +104231,6 @@ MONDO:0004473 oboInOwl:hasExactSynonym "malignant epiglottic tumor" MONDO:0004473 oboInOwl:hasExactSynonym "malignant tumor of the Epiglottis" MONDO:0004473 oboInOwl:hasExactSynonym "malignant epiglottis neoplasm" MONDO:0004473 oboInOwl:hasExactSynonym "malignant neoplasm of Epiglottis" -CL:1000495 oboInOwl:hasExactSynonym "small intestinal goblet cell" -CL:1000495 oboInOwl:hasExactSynonym "goblet cell of epithelium of small intestine" -CL:1000495 oboInOwl:hasExactSynonym "goblet cell of small intestine" MONDO:0024337 oboInOwl:hasExactSynonym "neoplasm of urothelium" MONDO:0024337 oboInOwl:hasExactSynonym "urothelium neoplasm" MONDO:0024337 oboInOwl:hasExactSynonym "urothelium neoplasm (disease)" @@ -103849,13 +104238,18 @@ MONDO:0024337 oboInOwl:hasExactSynonym "urothelium tumor" MONDO:0024337 oboInOwl:hasExactSynonym "tumor of urothelium" MONDO:0024337 oboInOwl:hasExactSynonym "urothelial neoplasm" MONDO:0024337 oboInOwl:hasExactSynonym "transitional cell neoplasm of the urinary tract" +CL:1000495 oboInOwl:hasExactSynonym "small intestinal goblet cell" +CL:1000495 oboInOwl:hasExactSynonym "goblet cell of epithelium of small intestine" +CL:1000495 oboInOwl:hasExactSynonym "goblet cell of small intestine" MONDO:0003276 oboInOwl:hasExactSynonym "disorder of middle ear" MONDO:0003276 oboInOwl:hasExactSynonym "middle ear disease or disorder" MONDO:0003276 oboInOwl:hasExactSynonym "middle Ear disorder" MONDO:0003276 oboInOwl:hasExactSynonym "disease or disorder of middle ear" MONDO:0003276 oboInOwl:hasExactSynonym "middle ear disease" MONDO:0003276 oboInOwl:hasExactSynonym "disease of middle ear" +MONDO:0011458 oboInOwl:hasExactSynonym "cone-rod dystrophy" MONDO:0011458 oboInOwl:hasExactSynonym "Leber congenital amaurosis 4" +MONDO:0011458 oboInOwl:hasExactSynonym "retinitis pigmentosa, juvenile" MONDO:0011458 oboInOwl:hasExactSynonym "AIPL1 Leber congenital amaurosis" MONDO:0011458 oboInOwl:hasExactSynonym "Leber congenital amaurosis type 4" MONDO:0011458 oboInOwl:hasExactSynonym "Leber congenital amaurosis caused by mutation in AIPL1" @@ -103905,10 +104299,11 @@ MONDO:0005851 oboInOwl:hasExactSynonym "Miller Fisher variant of Guillain Barre MONDO:0005851 oboInOwl:hasExactSynonym "Miller-Fisher syndrome" MONDO:0005851 oboInOwl:hasExactSynonym "cranial variant of GBS" MONDO:0005851 oboInOwl:hasExactSynonym "cranial variant of Guillain-Barre syndrome" -MONDO:0005851 oboInOwl:hasExactSynonym "Guillain-Barre syndrome, Miller Fisher variant" MONDO:0005851 oboInOwl:hasExactSynonym "syndrome, Miller-Fisher" +MONDO:0005851 oboInOwl:hasExactSynonym "Guillain-Barre syndrome, Miller Fisher variant" MONDO:0013587 oboInOwl:hasExactSynonym "glycogenosis due to lactate dehydrogenase H-subunit deficiency" MONDO:0013587 oboInOwl:hasExactSynonym "GSD due to lactate dehydrogenase H-subunit deficiency" +MONDO:0013587 oboInOwl:hasExactSynonym "lactate dehydrogenase-B deficiency" MONDO:0013587 oboInOwl:hasExactSynonym "lactate dehydrogenase B deficiency" MONDO:0013587 oboInOwl:hasExactSynonym "LDH-H subunit deficiency" MONDO:0000693 oboInOwl:hasExactSynonym "bipolar II disorder" @@ -103930,6 +104325,7 @@ MONDO:0012627 oboInOwl:hasExactSynonym "epilepsy, idiopathic generalized, suscep MONDO:0012627 oboInOwl:hasExactSynonym "susceptibility to idiopathic generalized epilepsy 13" MONDO:0012627 oboInOwl:hasExactSynonym "EIG13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007234 oboInOwl:hasExactSynonym "branchial myoclonus with spastic paraparesis and cerebellar ataxia" +MONDO:0010375 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 8" MONDO:0010375 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 8" MONDO:0010375 oboInOwl:hasExactSynonym "hyperekplexia-epilepsy syndrome" MONDO:0010375 oboInOwl:hasExactSynonym "DEE8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -103938,6 +104334,7 @@ MONDO:0010375 oboInOwl:hasExactSynonym "EIEE8" http://purl.obolibrary.org/obo/mo MONDO:0010375 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy 8" MONDO:0014191 oboInOwl:hasExactSynonym "catecholaminergic polymorphic ventricular tachycardia type 5" MONDO:0014191 oboInOwl:hasExactSynonym "catecholaminergic polymorphic ventricular tachycardia 5" +MONDO:0014191 oboInOwl:hasExactSynonym "cardiac arrhythmia syndrome, with or without skeletal muscle weakness" MONDO:0014191 oboInOwl:hasExactSynonym "TRDN catecholaminergic polymorphic ventricular tachycardia" MONDO:0014191 oboInOwl:hasExactSynonym "CVPT5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014191 oboInOwl:hasExactSynonym "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN" @@ -103959,6 +104356,7 @@ MONDO:0011826 oboInOwl:hasExactSynonym "glucocorticoid deficiency 2" MONDO:0011826 oboInOwl:hasExactSynonym "glucocorticoid deficiency type 2" MONDO:0011826 oboInOwl:hasExactSynonym "familial glucocorticoid deficiency caused by mutation in MRAP" MONDO:0011826 oboInOwl:hasExactSynonym "MRAP familial glucocorticoid deficiency" +MONDO:0014273 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 40" MONDO:0014273 oboInOwl:hasExactSynonym "microcephaly-thin corpus callosum-intellectual disability syndrome" MONDO:0014273 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 40" MONDO:0014273 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 40" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -104047,15 +104445,16 @@ GO:0033578 oboInOwl:hasExactSynonym "protein amino acid glycosylation in Golgi" MONDO:0020032 oboInOwl:hasExactSynonym "rare urinary system neoplasm" MONDO:0020032 oboInOwl:hasExactSynonym "rare urinary tract neoplasm" MONDO:0020032 oboInOwl:hasExactSynonym "rare urinary tract cancer" -MONDO:0014577 oboInOwl:hasExactSynonym "SRTD13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014577 oboInOwl:hasExactSynonym "short-rib thoracic dysplasia 13 with or without polydactyly" MONDO:8000006 oboInOwl:hasExactSynonym "Warts, hypogammaglobulinemia, infections, and myelokathexis" MONDO:8000006 oboInOwl:hasExactSynonym "Warts-infections-leukopenia-myelokatexis syndrome" MONDO:8000006 oboInOwl:hasExactSynonym "Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome" MONDO:8000006 oboInOwl:hasExactSynonym "WHIM syndrome" MONDO:8000006 oboInOwl:hasExactSynonym "WHIMS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:8000006 oboInOwl:hasExactSynonym "Warts-hypogammaglobulinemia-infections-myelokathexis syndrome" +MONDO:8000006 oboInOwl:hasExactSynonym "myelokathexis, isolated" MONDO:8000006 oboInOwl:hasExactSynonym "WILM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014577 oboInOwl:hasExactSynonym "SRTD13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014577 oboInOwl:hasExactSynonym "short-rib thoracic dysplasia 13 with or without polydactyly" MONDO:0015455 oboInOwl:hasExactSynonym "conjunctivitis gonococcal" MONDO:0015455 oboInOwl:hasExactSynonym "gonococcal ophthalmia neonatorum" MONDO:0000984 oboInOwl:hasExactSynonym "thalassemia Hb-S disease with crisis" @@ -104107,6 +104506,7 @@ MONDO:0008173 oboInOwl:hasExactSynonym "pachyonychia congenita type 1" MONDO:0008173 oboInOwl:hasExactSynonym "pachyonychia congenita 1" MONDO:0008173 oboInOwl:hasExactSynonym "KRT16 pachyonychia congenita" MONDO:0010448 oboInOwl:hasExactSynonym "Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism" +MONDO:0010448 oboInOwl:hasExactSynonym "moyamoya disease 4, X-linked recessive" MONDO:0017164 oboInOwl:hasExactSynonym "maternal anti-Kell alloimmunization" MONDO:0017164 oboInOwl:hasExactSynonym "anti-K HDN" MONDO:0002512 oboInOwl:hasExactSynonym "infiltrating and papillary adenocarcinoma" @@ -104118,6 +104518,7 @@ MONDO:0002512 oboInOwl:hasExactSynonym "papillary adenocarcinoma NOS (morphologi MONDO:0004942 oboInOwl:hasExactSynonym "lymphoma of orbit" MONDO:0004942 oboInOwl:hasExactSynonym "lymphoma of the orbit" MONDO:0004942 oboInOwl:hasExactSynonym "primary orbit lymphoma" +MONDO:0010225 oboInOwl:hasExactSynonym "dent disease 1, X-linked recessive" MONDO:0010225 oboInOwl:hasExactSynonym "Dent disease caused by mutation in CLCN5" MONDO:0010225 oboInOwl:hasExactSynonym "CLCN5 Dent disease" MONDO:0010225 oboInOwl:hasExactSynonym "Dent disease type 1" @@ -104132,6 +104533,7 @@ MONDO:0000554 oboInOwl:hasExactSynonym "endocervix adenocarcinoma" MONDO:0000554 oboInOwl:hasExactSynonym "endocervical adenocarcinoma, usual type" MONDO:0008360 oboInOwl:hasExactSynonym "obsolete radioulnar synostosis (disease)" MONDO:0009443 oboInOwl:hasExactSynonym "harlequin type ichthyosis fetalis" +MONDO:0009443 oboInOwl:hasExactSynonym "ichthyosis , congenital, autosomal recessive 4b (harlequin)" MONDO:0009443 oboInOwl:hasExactSynonym "ichthyosis congenita, Harlequin type" MONDO:0009443 oboInOwl:hasExactSynonym "ARCI4B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009443 oboInOwl:hasExactSynonym "harlequin ichthyosis" @@ -104153,6 +104555,7 @@ MONDO:0014052 oboInOwl:hasExactSynonym "congenital myasthenic syndrome type 8" MONDO:0014052 oboInOwl:hasExactSynonym "CMS8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014052 oboInOwl:hasExactSynonym "congenital myasthenic syndrome 8" MONDO:0014052 oboInOwl:hasExactSynonym "myasthenic syndrome, congenital, type 8" +MONDO:0014052 oboInOwl:hasExactSynonym "myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects" MONDO:0014052 oboInOwl:hasExactSynonym "AGRN congenital myasthenic syndrome" MONDO:0014052 oboInOwl:hasExactSynonym "congenital myasthenic syndrome due to agrin deficiency" MONDO:0010917 oboInOwl:hasExactSynonym "chondrocalcinosis 1" @@ -104196,6 +104599,7 @@ GO:1904081 oboInOwl:hasExactSynonym "upregulation of transcription from RNA poly GO:1904081 oboInOwl:hasExactSynonym "up-regulation of transcription from RNA polymerase II promoter involved in neuron differentiation" GO:1904081 oboInOwl:hasExactSynonym "up regulation of transcription from RNA polymerase II promoter involved in neuron differentiation" MONDO:0012398 oboInOwl:hasExactSynonym "retinal cone dystrophy 3A" +MONDO:0012398 oboInOwl:hasExactSynonym "retinal cone dystrophy 3" MONDO:0012398 oboInOwl:hasExactSynonym "retinal cone dystrophy type 3A" MONDO:0019867 oboInOwl:hasExactSynonym "Warkany syndrome" MONDO:0019867 oboInOwl:hasExactSynonym "Mosaic trisomy type 8" @@ -104275,6 +104679,7 @@ GO:0002713 oboInOwl:hasExactSynonym "down regulation of B cell mediated immunity GO:0002713 oboInOwl:hasExactSynonym "negative regulation of B-lymphocyte mediated immunity" MONDO:0013730 oboInOwl:hasExactSynonym "GVHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013730 oboInOwl:hasExactSynonym "GVH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013730 oboInOwl:hasExactSynonym "graft-versus-host disease, protection against" MONDO:0013730 oboInOwl:hasExactSynonym "graft VS. host disease" MONDO:0013730 oboInOwl:hasExactSynonym "runt disease" MONDO:0013730 oboInOwl:hasExactSynonym "graft VS host disease" @@ -104353,6 +104758,7 @@ MONDO:0010048 oboInOwl:hasExactSynonym "spastic paraplegia with myoclonic epilep MONDO:0011122 oboInOwl:hasExactSynonym "obesity disease" MONDO:0011122 oboInOwl:hasExactSynonym "obesity" MONDO:0010384 oboInOwl:hasExactSynonym "hypospadias 1, X-linked" +MONDO:0010384 oboInOwl:hasExactSynonym "hypospadias 1, X-linked, X-linked recessive" MONDO:0017847 oboInOwl:hasExactSynonym "AR-SPAX" MONDO:0017847 oboInOwl:hasExactSynonym "spastic ataxia, autosomal recessive" MONDO:0005524 oboInOwl:hasExactSynonym "sweat gland carcinoma" @@ -104383,6 +104789,7 @@ MONDO:0021481 oboInOwl:hasExactSynonym "submandibular gland benign neoplasm" MONDO:0003979 oboInOwl:hasExactSynonym "intrahepatic bile duct mucinous cystic neoplasm" MONDO:0003979 oboInOwl:hasExactSynonym "intrahepatic bile duct cystadenoma" MONDO:0003979 oboInOwl:hasExactSynonym "cystadenoma of the intrahepatic bile duct" +MONDO:0010571 oboInOwl:hasExactSynonym "otopalatodigital syndrome, type II, X-linked dominant" MONDO:0010571 oboInOwl:hasExactSynonym "OPD II syndrome" MONDO:0010571 oboInOwl:hasExactSynonym "OPD syndrome 2" MONDO:0010571 oboInOwl:hasExactSynonym "OPD 2 syndrome" @@ -104393,8 +104800,8 @@ MONDO:0003181 oboInOwl:hasExactSynonym "adenocystic carcinoma of the lung" MONDO:0003181 oboInOwl:hasExactSynonym "lung adenoid cystic cancer" MONDO:0003181 oboInOwl:hasExactSynonym "pulmonary adenoid cystic carcinoma" MONDO:0003181 oboInOwl:hasExactSynonym "adenoid cystic carcinoma of lung" -MONDO:0003181 oboInOwl:hasExactSynonym "adenocystic carcinoma of lung" MONDO:0003181 oboInOwl:hasExactSynonym "lung adenocystic carcinoma" +MONDO:0003181 oboInOwl:hasExactSynonym "adenocystic carcinoma of lung" MONDO:0003181 oboInOwl:hasExactSynonym "adenoid cystic carcinoma of the lung" MONDO:0003181 oboInOwl:hasExactSynonym "pulmonary adenocystic carcinoma" MONDO:0003181 oboInOwl:hasExactSynonym "lung adenoid cystic carcinoma" @@ -104430,6 +104837,7 @@ MONDO:0010792 oboInOwl:hasExactSynonym "LIMM" http://purl.obolibrary.org/obo/mon MONDO:0010792 oboInOwl:hasExactSynonym "lethal infantile mitochondrial disease" MONDO:0010792 oboInOwl:hasExactSynonym "LIMD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0007417 oboInOwl:hasExactSynonym "CNS development" +MONDO:0010280 oboInOwl:hasExactSynonym "ptosis, hereditary congenital 2, X-linked dominant" MONDO:0010280 oboInOwl:hasExactSynonym "ptosis, hereditary congenital type 2" MONDO:0010280 oboInOwl:hasExactSynonym "ptosis, hereditary congenital 2" MONDO:0013332 oboInOwl:hasExactSynonym "brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability" @@ -104458,6 +104866,7 @@ MONDO:0015447 oboInOwl:hasExactSynonym "well differentiated thyroid carcinoma" MONDO:0024309 oboInOwl:hasExactSynonym "HSAN2A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024309 oboInOwl:hasExactSynonym "HSAN 2A" MONDO:0024309 oboInOwl:hasExactSynonym "hereditary sensory and autonomic neuropathy type IIA" +MONDO:0024309 oboInOwl:hasExactSynonym "neuropathy, hereditary sensory and autonomic, type II" MONDO:0024309 oboInOwl:hasExactSynonym "HSN 2A" MONDO:0024309 oboInOwl:hasExactSynonym "neuropathy, hereditary sensory and autonomic, type IIA" MONDO:0024309 oboInOwl:hasExactSynonym "neuropathy, hereditary sensory, type 2A" @@ -104570,9 +104979,11 @@ GO:0035898 oboInOwl:hasExactSynonym "PTH secretion" MONDO:0013098 oboInOwl:hasExactSynonym "noise-induced hearing loss" MONDO:0011786 oboInOwl:hasExactSynonym "atopic rhinitis" MONDO:0011786 oboInOwl:hasExactSynonym "pollenosis" +MONDO:0011786 oboInOwl:hasExactSynonym "allergic rhinitis, susceptibility to" MONDO:0011786 oboInOwl:hasExactSynonym "allergic rhinitis" MONDO:0011786 oboInOwl:hasExactSynonym "allergic form of rhinitis" MONDO:0016090 oboInOwl:hasExactSynonym "Krabbe disease, late-onset" +NCBITaxon:36087 oboInOwl:hasExactSynonym "human whipworm" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name MONDO:0020089 oboInOwl:hasExactSynonym "acquired lipodystrophy (disease)" GO:1901566 oboInOwl:hasExactSynonym "organonitrogen compound synthesis" GO:1901566 oboInOwl:hasExactSynonym "organonitrogen compound formation" @@ -104582,15 +104993,14 @@ MONDO:0015363 oboInOwl:hasExactSynonym "autosomal recessive dHMN" MONDO:0015363 oboInOwl:hasExactSynonym "distal hereditary motor neuropathy, autosomal recessive" MONDO:0015363 oboInOwl:hasExactSynonym "autosomal recessive dSMA" MONDO:0015363 oboInOwl:hasExactSynonym "autosomal recessive distal spinal muscular atrophy" -NCBITaxon:36087 oboInOwl:hasExactSynonym "human whipworm" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name -MONDO:0008697 oboInOwl:hasExactSynonym "Acetophenetidin sensitivity" MONDO:0016005 oboInOwl:hasExactSynonym "fetal indomethacin syndrome" +MONDO:0008697 oboInOwl:hasExactSynonym "Acetophenetidin sensitivity" MONDO:0009771 oboInOwl:hasExactSynonym "Cecato de Lima-Pinheiro syndrome" MONDO:0009771 oboInOwl:hasExactSynonym "oculotrichodysplasia" MONDO:0008119 oboInOwl:hasExactSynonym "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1" MONDO:0008119 oboInOwl:hasExactSynonym "Sca1" -MONDO:0008119 oboInOwl:hasExactSynonym "spinocerebellar ataxia type 1" MONDO:0008119 oboInOwl:hasExactSynonym "ATXN1 autosomal dominant cerebellar ataxia type I" +MONDO:0008119 oboInOwl:hasExactSynonym "spinocerebellar ataxia type 1" MONDO:0016309 oboInOwl:hasExactSynonym "Niemann-Pick disease type C, classic form" MONDO:0024477 oboInOwl:hasExactSynonym "hepatic and intrahepatic bile duct neoplasm" MONDO:0024477 oboInOwl:hasExactSynonym "liver and intrahepatic bile duct neoplasm" @@ -104717,6 +105127,7 @@ MONDO:0007937 oboInOwl:hasExactSynonym "isolated autosomal dominant hypomagnesem MONDO:0007937 oboInOwl:hasExactSynonym "isolated renal magnesium wasting" MONDO:0007937 oboInOwl:hasExactSynonym "renal hypomagnesemia type 2" MONDO:0007937 oboInOwl:hasExactSynonym "FXYD2 primary hypomagnesemia" +MONDO:0026724 oboInOwl:hasExactSynonym "Paganini-Miozzo syndrome, X-linked recessive" MONDO:0005663 oboInOwl:hasExactSynonym "Cervicocranial syndrome" MONDO:0005663 oboInOwl:hasExactSynonym "posterior cervical sympathetic syndrome" MONDO:0012776 oboInOwl:hasExactSynonym "CELIAC7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -104797,6 +105208,7 @@ MONDO:0013263 oboInOwl:hasExactSynonym "retinitis pigmentosa type 54" MONDO:0013263 oboInOwl:hasExactSynonym "retinitis pigmentosa 54" UBERON:0007023 oboInOwl:hasExactSynonym "adults" MONDO:0054698 oboInOwl:hasExactSynonym "PRAAS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0054698 oboInOwl:hasExactSynonym "proteasome-associated autoinflammatory syndrome 1 and digenic forms" MONDO:0054698 oboInOwl:hasExactSynonym "proteasome-associated autoinflammatory syndrome 1" MONDO:0010189 oboInOwl:hasExactSynonym "vitiligo, progressive, with mental retardation and urethral duplication" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010189 oboInOwl:hasExactSynonym "vitiligo, progressive, with intellectual disability and urethral duplication" @@ -104892,11 +105304,13 @@ MONDO:0001471 oboInOwl:hasExactSynonym "Histoplasma capsulatum caused infectious MONDO:0001471 oboInOwl:hasExactSynonym "Histoplasma capsulatum infectious meningitis" MONDO:0010447 oboInOwl:hasExactSynonym "mental retardation, X-linked type 19" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010447 oboInOwl:hasExactSynonym "RPS6KA3 non-syndromic X-linked intellectual disability" +MONDO:0010447 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 19, X-linked dominant" MONDO:0010447 oboInOwl:hasExactSynonym "intellectual disability, X-linked 19" MONDO:0010447 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 19" MONDO:0010447 oboInOwl:hasExactSynonym "non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3" MONDO:0012720 oboInOwl:hasExactSynonym "Krabbe disease, atypical due to saposin A deficiency" MONDO:0012720 oboInOwl:hasExactSynonym "Krabbe disease, atypical, due to saposin A deficiency" +MONDO:0012720 oboInOwl:hasExactSynonym "Krabbe disease, atypical" MONDO:0005382 oboInOwl:hasExactSynonym "Paget's disease of the bone" MONDO:0005382 oboInOwl:hasExactSynonym "Paget's disease of bone" MONDO:0005382 oboInOwl:hasExactSynonym "bone Paget's disease" @@ -104923,6 +105337,7 @@ MONDO:0013137 oboInOwl:hasExactSynonym "choroidal dystrophy, central areolar typ MONDO:0013137 oboInOwl:hasExactSynonym "central areolar choroidal dystrophy caused by mutation in PRPH2" MONDO:0020989 oboInOwl:hasExactSynonym "hereditary persistence of fetal hemoglobin" MONDO:0007385 oboInOwl:hasExactSynonym "idiopathic SCAD" +MONDO:0014274 oboInOwl:hasExactSynonym "L-ferritin deficiency, dominant and recessive" MONDO:0014274 oboInOwl:hasExactSynonym "L-ferritin deficiency" MONDO:0010762 oboInOwl:hasExactSynonym "lymphoma, Hodgkin, Y-linked pseudoautosomal" CHEBI:57718 oboInOwl:hasExactSynonym "2,4,6-trioxotetrahydro-2H-pyrimidine-1,5-diide" @@ -104983,8 +105398,8 @@ MONDO:0001744 oboInOwl:hasExactSynonym "angle closure glaucoma" MONDO:0001744 oboInOwl:hasExactSynonym "primary open-angle glaucoma with narrow angles" MONDO:0007647 oboInOwl:hasExactSynonym "gastric volvulus, intrathoracic" MONDO:0013870 oboInOwl:hasExactSynonym "carbohydrate deficient glycoprotein syndrome type IIk" -MONDO:0013870 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type IIk" MONDO:0013870 oboInOwl:hasExactSynonym "CDG2K" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013870 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type IIk" MONDO:0013870 oboInOwl:hasExactSynonym "CDG-IIk" MONDO:0013870 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type 2k" MONDO:0013870 oboInOwl:hasExactSynonym "CDG syndrome type IIk" @@ -105005,6 +105420,7 @@ MONDO:0020115 oboInOwl:hasExactSynonym "secondary erythrocytosis" MONDO:0020115 oboInOwl:hasExactSynonym "secondary polycythemia" MONDO:0010226 oboInOwl:hasExactSynonym "46,XY Sex reversal type 2" MONDO:0010226 oboInOwl:hasExactSynonym "46,XY sex reversal 2" +MONDO:0010226 oboInOwl:hasExactSynonym "46XY sex reversal 2, dosage-sensitive" MONDO:0024620 oboInOwl:hasExactSynonym "meningitis caused by human poliovirus" MONDO:0019198 oboInOwl:hasExactSynonym "sympathetic ophthalmia" MONDO:0019198 oboInOwl:hasExactSynonym "sympathetic uveitis" @@ -105051,12 +105467,12 @@ MONDO:0006068 oboInOwl:hasExactSynonym "ACTHoma" MONDO:0006068 oboInOwl:hasExactSynonym "ACTH producing pituitary gland adenoma" MONDO:0006068 oboInOwl:hasExactSynonym "adrenocorticotropin producing adenoma of pituitary" GO:0140112 oboInOwl:hasExactSynonym "extracellular vesicle assembly" -MONDO:0012407 oboInOwl:hasExactSynonym "PNPO-related neonatal epileptic encephalopathy" -MONDO:0012407 oboInOwl:hasExactSynonym "PNPO deficiency" MONDO:0012407 oboInOwl:hasExactSynonym "pyridoxine 5' phosphate oxidase deficiency" -MONDO:0012407 oboInOwl:hasExactSynonym "pyridoxal phosphate-dependent seizures" +MONDO:0012407 oboInOwl:hasExactSynonym "PNPO-related neonatal epileptic encephalopathy" MONDO:0012407 oboInOwl:hasExactSynonym "pyridoxamine 5'-oxidase deficiency" +MONDO:0012407 oboInOwl:hasExactSynonym "PNPO deficiency" MONDO:0012407 oboInOwl:hasExactSynonym "pyridoxamine 5'-phosphate oxidase deficiency" +MONDO:0012407 oboInOwl:hasExactSynonym "pyridoxal phosphate-dependent seizures" MONDO:0018567 oboInOwl:hasExactSynonym "CMT2 due to TFG mutation" MONDO:0007014 oboInOwl:hasExactSynonym "Vibrio disease or disorder" MONDO:0007014 oboInOwl:hasExactSynonym "Vibrio infectious disease" @@ -105157,6 +105573,7 @@ MONDO:0014743 oboInOwl:hasExactSynonym "PEX5 rhizomelic chondrodysplasia punctat MONDO:0014743 oboInOwl:hasExactSynonym "Rcdp5" MONDO:0014743 oboInOwl:hasExactSynonym "rhizomelic chondrodysplasia punctata, type 5" MONDO:0014743 oboInOwl:hasExactSynonym "RCDP5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0700087 oboInOwl:hasExactSynonym "Usher syndrome, type 1B" MONDO:0001287 oboInOwl:hasExactSynonym "endometriosis in scar of skin" MONDO:0001463 oboInOwl:hasExactSynonym "cancer of splenic flexure of colon" MONDO:0001463 oboInOwl:hasExactSynonym "malignant splenic flexure of colon neoplasm" @@ -105220,6 +105637,7 @@ MONDO:0016858 oboInOwl:hasExactSynonym "blepharophimosis types 1 and 2 due to a MONDO:0000334 oboInOwl:hasExactSynonym "goiter, multinodular" MONDO:0012817 oboInOwl:hasExactSynonym "PNET of Thoracopulmonary region" MONDO:0012817 oboInOwl:hasExactSynonym "Ewing's family localized tumor" +MONDO:0012817 oboInOwl:hasExactSynonym "neuroepithelioma" MONDO:0012817 oboInOwl:hasExactSynonym "ES" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012817 oboInOwl:hasExactSynonym "Ewing's sarcoma" MONDO:0012817 oboInOwl:hasExactSynonym "Ewing sarcoma" @@ -105246,6 +105664,8 @@ MONDO:0008667 oboInOwl:hasExactSynonym "Von Hippel-Lindau syndrome" MONDO:0008667 oboInOwl:hasExactSynonym "Von Hippel-Lindau syndrome (VHL)" MONDO:0008667 oboInOwl:hasExactSynonym "Lindau disease" MONDO:0008667 oboInOwl:hasExactSynonym "von Hippel-Lindau syndrome" +MONDO:0008667 oboInOwl:hasExactSynonym "von Hippel-Lindau syndrome, modifier of" +MONDO:0009613 oboInOwl:hasExactSynonym "Methylmalonic aciduria, vitamin B12-responsive, cblA type" MONDO:0009613 oboInOwl:hasExactSynonym "cobalamin A disease" MONDO:0009613 oboInOwl:hasExactSynonym "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type" MONDO:0009613 oboInOwl:hasExactSynonym "cobalamin B disease" @@ -105342,18 +105762,19 @@ MONDO:0006927 oboInOwl:hasExactSynonym "Rickettsiaceae caused disease or disorde MONDO:0006927 oboInOwl:hasExactSynonym "Rickettsiaceae disease or disorder" MONDO:0004513 oboInOwl:hasExactSynonym "pleomorphic rhabdomyosarcoma of adults" MONDO:0004513 oboInOwl:hasExactSynonym "adult pleomorphic rhabdomyosarcoma" -MONDO:0014079 oboInOwl:hasExactSynonym "restless legs syndrome, susceptibility to, 8" -MONDO:0014079 oboInOwl:hasExactSynonym "RLS8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011123 oboInOwl:hasExactSynonym "IDDM15" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011123 oboInOwl:hasExactSynonym "insulin-dependent diabetes mellitus 15" +MONDO:0014079 oboInOwl:hasExactSynonym "restless legs syndrome, susceptibility to, 8" +MONDO:0014079 oboInOwl:hasExactSynonym "RLS8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014079 oboInOwl:hasExactSynonym "restless legs syndrome 8" +MONDO:0012681 oboInOwl:hasExactSynonym "FEB7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012681 oboInOwl:hasExactSynonym "febrile seizures, familial, 7" MONDO:0024876 oboInOwl:hasExactSynonym "tendon sheath disorder" MONDO:0024876 oboInOwl:hasExactSynonym "tendon sheath disease or disorder" MONDO:0024876 oboInOwl:hasExactSynonym "disorder of tendon sheath" MONDO:0024876 oboInOwl:hasExactSynonym "tendon sheath disease" MONDO:0024876 oboInOwl:hasExactSynonym "disease of tendon sheath" MONDO:0024876 oboInOwl:hasExactSynonym "disease or disorder of tendon sheath" -MONDO:0012681 oboInOwl:hasExactSynonym "FEB7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012681 oboInOwl:hasExactSynonym "febrile seizures, familial, 7" MONDO:0003316 oboInOwl:hasExactSynonym "Nonanaplastic renal Wilm's tumor" MONDO:0003316 oboInOwl:hasExactSynonym "Nonanaplastic renal Wilms' tumor" MONDO:0003316 oboInOwl:hasExactSynonym "Nonanaplastic renal Wilms tumor" @@ -105396,6 +105817,7 @@ MONDO:0008901 oboInOwl:hasExactSynonym "Tel Hashomer camptodactyly syndrome" MONDO:0012564 oboInOwl:hasExactSynonym "Polyosteolysis-hyperostosis syndrome" MONDO:0013510 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, susceptibility to, type 6" MONDO:0013510 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, susceptibility to, 6" +MONDO:0013510 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, 6" MONDO:0012954 oboInOwl:hasExactSynonym "CRCS11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012954 oboInOwl:hasExactSynonym "colorectal cancer, susceptibility to, 11" MONDO:0100138 oboInOwl:hasExactSynonym "X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features" @@ -105463,6 +105885,7 @@ MONDO:0010281 oboInOwl:hasExactSynonym "ANTOPOL disease" MONDO:0010281 oboInOwl:hasExactSynonym "Danon disease" MONDO:0010281 oboInOwl:hasExactSynonym "glycogen storage disease type IIb" MONDO:0010281 oboInOwl:hasExactSynonym "LAMP2 lysosomal glycogen storage disease" +MONDO:0010281 oboInOwl:hasExactSynonym "Danon disease, X-linked dominant" MONDO:0016553 oboInOwl:hasExactSynonym "nonsyndromic congenital hypogonadotropic hypogonadism" CL:0002034 oboInOwl:hasExactSynonym "LT-HSC" CL:0002034 oboInOwl:hasExactSynonym "LT stem cell" @@ -105541,8 +105964,9 @@ MONDO:0010385 oboInOwl:hasExactSynonym "lymphoproliferative syndrome, X-linked, MONDO:0010385 oboInOwl:hasExactSynonym "X-linked lymphoproliferative syndrome type 2" MONDO:0010385 oboInOwl:hasExactSynonym "XLP2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010385 oboInOwl:hasExactSynonym "XIAP deficiency" -MONDO:0010385 oboInOwl:hasExactSynonym "XIAP deficiency/XLPs" MONDO:0010385 oboInOwl:hasExactSynonym "X-linked lymphoproliferative disease due to XIAP deficiency" +MONDO:0010385 oboInOwl:hasExactSynonym "XIAP deficiency/XLPs" +MONDO:0010385 oboInOwl:hasExactSynonym "lymphoproliferative syndrome, X-linked, 2, X-linked recessive" MONDO:0020450 oboInOwl:hasExactSynonym "azygos continuation of the IVC" MONDO:0020450 oboInOwl:hasExactSynonym "azygos continuation of the inferior caval vein" MONDO:0017493 oboInOwl:hasExactSynonym "fibular longitudinal meromelia, bilateral" @@ -105574,16 +105998,16 @@ MONDO:0000890 oboInOwl:hasExactSynonym "congenital Zika syndrome" MONDO:0000890 oboInOwl:hasExactSynonym "congenital Zika virus infection" MONDO:0000890 oboInOwl:hasExactSynonym "ZIKV congenital infection" GO:0031344 oboInOwl:hasExactSynonym "regulation of cell projection organisation" -MONDO:0011787 oboInOwl:hasExactSynonym "FKRP autosomal recessive limb-girdle muscular dystrophy" MONDO:0011787 oboInOwl:hasExactSynonym "muscular dystrophy limb-girdle type 2I" -MONDO:0011787 oboInOwl:hasExactSynonym "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related" -MONDO:0011787 oboInOwl:hasExactSynonym "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5" MONDO:0011787 oboInOwl:hasExactSynonym "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5" +MONDO:0011787 oboInOwl:hasExactSynonym "LGMD-FKRP related" +MONDO:0011787 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP" +MONDO:0011787 oboInOwl:hasExactSynonym "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related" +MONDO:0011787 oboInOwl:hasExactSynonym "FKRP autosomal recessive limb-girdle muscular dystrophy" MONDO:0011787 oboInOwl:hasExactSynonym "LGMD2I" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011787 oboInOwl:hasExactSynonym "MDDGC5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011787 oboInOwl:hasExactSynonym "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5" MONDO:0011787 oboInOwl:hasExactSynonym "limb-girdle muscular dystrophy due to FKRP deficiency" -MONDO:0011787 oboInOwl:hasExactSynonym "LGMD-FKRP related" -MONDO:0011787 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP" MONDO:0030543 oboInOwl:hasExactSynonym "COXPD54" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:2000064 oboInOwl:hasExactSynonym "regulation of cortisol synthesis" GO:2000064 oboInOwl:hasExactSynonym "regulation of cortisol formation" @@ -105625,9 +106049,10 @@ GO:0044297 oboInOwl:hasExactSynonym "cell soma" MONDO:0011154 oboInOwl:hasExactSynonym "acrofacial dysostosis, Palagonia type" MONDO:0011154 oboInOwl:hasExactSynonym "acrofacial dysostosis, Patagonia type" http://purl.obolibrary.org/obo/mondo#MISSPELLING MONDO:0011154 oboInOwl:hasExactSynonym "Palagonia type of acrofacial dysostosis" +ENVO:21001216 oboInOwl:hasExactSynonym "UV radiation" MONDO:0007938 oboInOwl:hasExactSynonym "46,XY sex reversal 4" +MONDO:0007938 oboInOwl:hasExactSynonym "46XY sex reversal 4, Isolated cases" MONDO:0007938 oboInOwl:hasExactSynonym "46,XY Sex reversal type 4" -ENVO:21001216 oboInOwl:hasExactSynonym "UV radiation" MONDO:0005664 oboInOwl:hasExactSynonym "bartonelliasis" MONDO:0005664 oboInOwl:hasExactSynonym "Bartonella disease or disorder" MONDO:0005664 oboInOwl:hasExactSynonym "Bartonella infectious disease" @@ -105641,27 +106066,31 @@ MONDO:0014548 oboInOwl:hasExactSynonym "long QT syndrome 14" MONDO:0014548 oboInOwl:hasExactSynonym "LQT14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0034308 oboInOwl:hasExactSynonym "primary alcohol metabolism" GO:0034308 oboInOwl:hasExactSynonym "monohydric alcohol metabolic process" +MONDO:0013333 oboInOwl:hasExactSynonym "odontoid hypoplasia" HP:0001871 oboInOwl:hasExactSynonym "Haematological abnormality" http://purl.obolibrary.org/obo/hp.obo#uk_spelling HP:0001871 oboInOwl:hasExactSynonym "Abnormality of the haematopoietic system" http://purl.obolibrary.org/obo/hp.obo#uk_spelling HP:0001871 oboInOwl:hasExactSynonym "Abnormality of the hematopoietic system" HP:0001871 oboInOwl:hasExactSynonym "Abnormality of blood and blood-forming tissues" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0001871 oboInOwl:hasExactSynonym "Hematological abnormality" -MONDO:0013333 oboInOwl:hasExactSynonym "odontoid hypoplasia" +MONDO:0030996 oboInOwl:hasExactSynonym "bleeding disorder, platelet-type, 24, autosomal dominant" +MONDO:0030996 oboInOwl:hasExactSynonym "BDPLT24" MONDO:0030996 oboInOwl:hasExactSynonym "bleeding disorder, platelet-type, 24" MONDO:0030996 oboInOwl:hasExactSynonym "Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2" -MONDO:0030996 oboInOwl:hasExactSynonym "BDPLT24" MONDO:0013536 oboInOwl:hasExactSynonym "heme oxygenase 1 deficiency" +MONDO:0013536 oboInOwl:hasExactSynonym "heme oxygenase-1 deficiency" MONDO:0019909 oboInOwl:hasExactSynonym "Ring chromosome type 16" MONDO:0011375 oboInOwl:hasExactSynonym "brittle bone disorder" -MONDO:0011639 oboInOwl:hasExactSynonym "Diamond-Blackfan anemia caused by mutation in RPS28" MONDO:0011639 oboInOwl:hasExactSynonym "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis" +MONDO:0011639 oboInOwl:hasExactSynonym "Diamond Blackfan anemia 15 with mandibulofacial dysostosis" MONDO:0011639 oboInOwl:hasExactSynonym "RPS28 Diamond-Blackfan anemia" +MONDO:0011639 oboInOwl:hasExactSynonym "Diamond-Blackfan anemia caused by mutation in RPS28" MONDO:0002706 oboInOwl:hasExactSynonym "endometriosis of cervix" MONDO:0002706 oboInOwl:hasExactSynonym "uterine cervix endometriosis (disease)" MONDO:0002706 oboInOwl:hasExactSynonym "endometriosis (disease) of uterine cervix" MONDO:0002706 oboInOwl:hasExactSynonym "cervical endometriosis" -MONDO:0100086 oboInOwl:hasExactSynonym "perinatal disorder" MONDO:0100086 oboInOwl:hasExactSynonym "perinatal condition" +MONDO:0100086 oboInOwl:hasExactSynonym "perinatal disorder" +MONDO:0009360 oboInOwl:hasExactSynonym "hydrocephalus, congenital, 1" MONDO:0009360 oboInOwl:hasExactSynonym "hydrocephalus, nonsyndromic, autosomal recessive 1" MONDO:0009360 oboInOwl:hasExactSynonym "hydrocephalus, nonsyndromic, autosomal recessive type 1" MONDO:0009360 oboInOwl:hasExactSynonym "congenital hydrocephalus caused by mutation in CCDC88C" @@ -105696,6 +106125,7 @@ MONDO:0015143 oboInOwl:hasExactSynonym "rare movement disorder" GO:0045089 oboInOwl:hasExactSynonym "upregulation of innate immune response" GO:0045089 oboInOwl:hasExactSynonym "up regulation of innate immune response" GO:0045089 oboInOwl:hasExactSynonym "up-regulation of innate immune response" +MONDO:0054699 oboInOwl:hasExactSynonym "proteasome-associated autoinflammatory syndrome 3 and digenic forms" MONDO:0054699 oboInOwl:hasExactSynonym "proteasome-associated autoinflammatory syndrome 3" MONDO:0000525 oboInOwl:hasExactSynonym "cecal villous adenoma" MONDO:0000525 oboInOwl:hasExactSynonym "villous adenoma of cecum" @@ -105728,20 +106158,21 @@ MONDO:0005213 oboInOwl:hasExactSynonym "carcinoma of uterus" MONDO:0005213 oboInOwl:hasExactSynonym "uterus carcinoma" MONDO:0014023 oboInOwl:hasExactSynonym "DPM2-CDG" MONDO:0014023 oboInOwl:hasExactSynonym "CDG syndrome type Iu" -MONDO:0014023 oboInOwl:hasExactSynonym "CDG1U" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014023 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type Iu" +MONDO:0014023 oboInOwl:hasExactSynonym "CDG1U" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014023 oboInOwl:hasExactSynonym "carbohydrate deficient glycoprotein syndrome type Iu" MONDO:0014023 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type 1u" MONDO:0014023 oboInOwl:hasExactSynonym "CMD with intellectual disability and severe epilepsy" MONDO:0014023 oboInOwl:hasExactSynonym "CDG-Iu" -MONDO:0010995 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 1C" -MONDO:0010995 oboInOwl:hasExactSynonym "HMSN IC" MONDO:0010995 oboInOwl:hasExactSynonym "LITAF Charcot-Marie-Tooth disease type 1" +MONDO:0010995 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 1C" +MONDO:0010995 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF" +MONDO:0010995 oboInOwl:hasExactSynonym "neuropathy hereditary motor and sensory type 1C" MONDO:0010995 oboInOwl:hasExactSynonym "CMT slow nerve conduction type C" MONDO:0010995 oboInOwl:hasExactSynonym "HMSN1C" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010995 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF" MONDO:0010995 oboInOwl:hasExactSynonym "CMT1C" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010995 oboInOwl:hasExactSynonym "neuropathy hereditary motor and sensory type 1C" +MONDO:0010995 oboInOwl:hasExactSynonym "HMSN IC" +MONDO:0010995 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 1C" GO:0030521 oboInOwl:hasExactSynonym "androgen receptor signalling pathway" MONDO:0044995 oboInOwl:hasExactSynonym "parasympathetic nervous system disease or disorder" MONDO:0044995 oboInOwl:hasExactSynonym "disorder of parasympathetic nervous system" @@ -105793,6 +106224,7 @@ MONDO:0013264 oboInOwl:hasExactSynonym "ALS12" http://purl.obolibrary.org/obo/mo MONDO:0013264 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis type 12" MONDO:0013264 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis caused by mutation in OPTN" MONDO:0013264 oboInOwl:hasExactSynonym "OPTN amyotrophic lateral sclerosis" +MONDO:0013264 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis 12 with or without frontotemporal dementia" MONDO:0018075 oboInOwl:hasExactSynonym "NTD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018075 oboInOwl:hasExactSynonym "spinal dysraphism" MONDO:0010080 oboInOwl:hasExactSynonym "familial infantile striatonigral degeneration" @@ -105837,6 +106269,7 @@ MONDO:0012629 oboInOwl:hasExactSynonym "paroxysmal nonkinesigenic dyskinesia typ MONDO:0012629 oboInOwl:hasExactSynonym "paroxysmal nonkinesigenic dyskinesia 2" MONDO:0010377 oboInOwl:hasExactSynonym "myopia 13, X-linked" MONDO:0010377 oboInOwl:hasExactSynonym "MYP13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010377 oboInOwl:hasExactSynonym "myopia 13" MONDO:0002874 oboInOwl:hasExactSynonym "testicular Pure germ cell tumor" CHEBI:39024 oboInOwl:hasExactSynonym "clathrates" GO:0009110 oboInOwl:hasExactSynonym "vitamin biosynthesis" @@ -105877,7 +106310,9 @@ MONDO:0010598 oboInOwl:hasExactSynonym "PHKA2-related glycogen storage disease t MONDO:0010598 oboInOwl:hasExactSynonym "GSD type IXa" MONDO:0010598 oboInOwl:hasExactSynonym "GSD type 9A" MONDO:0010598 oboInOwl:hasExactSynonym "glycogen storage disease type IXa" +MONDO:0010598 oboInOwl:hasExactSynonym "glycogen storage disease, type IXa1, X-linked recessive" MONDO:0010598 oboInOwl:hasExactSynonym "glycogen storage disease caused by mutation in PHKA2" +MONDO:0010598 oboInOwl:hasExactSynonym "glycogen storage disease, type IXa2, X-linked recessive" MONDO:0010598 oboInOwl:hasExactSynonym "glycogenosis type 9A" MONDO:0010598 oboInOwl:hasExactSynonym "glycogen storage disease VIII" MONDO:0010598 oboInOwl:hasExactSynonym "glycogen storage disease type 9A" @@ -105909,6 +106344,7 @@ MONDO:0006363 oboInOwl:hasExactSynonym "multicystic mesothelioma of the peritone MONDO:0001745 oboInOwl:hasExactSynonym "subserous leiomyoma of uterus" MONDO:0007648 oboInOwl:hasExactSynonym "HDGC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007648 oboInOwl:hasExactSynonym "FDGC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007648 oboInOwl:hasExactSynonym "diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate" MONDO:0007648 oboInOwl:hasExactSynonym "familial diffuse cancer of stomach" MONDO:0007648 oboInOwl:hasExactSynonym "hereditary diffuse gastric adenocarcinoma" MONDO:0007648 oboInOwl:hasExactSynonym "hereditary diffuse gastric cancer" @@ -106048,8 +106484,6 @@ CHEBI:16914 oboInOwl:hasExactSynonym "Salicylic acid" MONDO:0009445 oboInOwl:hasExactSynonym "Dykes-Marks-Harper syndrome" MONDO:0009445 oboInOwl:hasExactSynonym "Dykes-Markes-Harper syndrome" MONDO:0043009 oboInOwl:hasExactSynonym "hereditary lethal multiple congenital anomalies/dysmorphic syndrome" -GO:0051090 oboInOwl:hasExactSynonym "regulation of sequence-specific DNA binding transcription factor activity" -GO:0051090 oboInOwl:hasExactSynonym "regulation of DNA binding transcription factor activity" MONDO:0021452 oboInOwl:hasExactSynonym "benign corneal neoplasm" MONDO:0021452 oboInOwl:hasExactSynonym "benign corneal tumor" MONDO:0021452 oboInOwl:hasExactSynonym "benign cornea tumor" @@ -106058,6 +106492,9 @@ MONDO:0021452 oboInOwl:hasExactSynonym "benign tumor of cornea" MONDO:0021452 oboInOwl:hasExactSynonym "benign tumor of the cornea" MONDO:0021452 oboInOwl:hasExactSynonym "benign cornea neoplasm" MONDO:0021452 oboInOwl:hasExactSynonym "cornea benign neoplasm" +GO:0051090 oboInOwl:hasExactSynonym "regulation of sequence-specific DNA binding transcription factor activity" +GO:0051090 oboInOwl:hasExactSynonym "regulation of DNA binding transcription factor activity" +HP:0010280 oboInOwl:hasExactSynonym "Inflammation of the mouth" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0014054 oboInOwl:hasExactSynonym "lymphoproliferative syndrome caused by mutation in CD27" MONDO:0014054 oboInOwl:hasExactSynonym "LPFS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014054 oboInOwl:hasExactSynonym "CD27 lymphoproliferative syndrome" @@ -106069,7 +106506,6 @@ MONDO:0010542 oboInOwl:hasExactSynonym "CMD3B" http://purl.obolibrary.org/obo/mo MONDO:0010542 oboInOwl:hasExactSynonym "dilated cardiomyopathy caused by mutation in DMD" MONDO:0010542 oboInOwl:hasExactSynonym "DMD dilated cardiomyopathy" MONDO:0010542 oboInOwl:hasExactSynonym "dilated cardiomyopathy type 3B" -HP:0010280 oboInOwl:hasExactSynonym "Inflammation of the mouth" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0005853 oboInOwl:hasExactSynonym "tumor, mixed, malignant" MONDO:0005853 oboInOwl:hasExactSynonym "malignant mixed neoplasm" MONDO:0005853 oboInOwl:hasExactSynonym "mixed tumor, malignant, NOS (morphologic abnormality)" @@ -106088,14 +106524,16 @@ MONDO:0002735 oboInOwl:hasExactSynonym "anal canal adenocarcinoma (disease)" MONDO:0000306 oboInOwl:hasExactSynonym "Trichosporon disease or disorder" MONDO:0000306 oboInOwl:hasExactSynonym "Trichosporon caused disease or disorder" MONDO:0000306 oboInOwl:hasExactSynonym "Trichosporon infectious disease" -MONDO:0012721 oboInOwl:hasExactSynonym "PME type 3" -MONDO:0012721 oboInOwl:hasExactSynonym "KCTD7 progressive myoclonic epilepsy" -MONDO:0012721 oboInOwl:hasExactSynonym "EPM3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012721 oboInOwl:hasExactSynonym "progressive myoclonic epilepsy caused by mutation in KCTD7" +MONDO:0012721 oboInOwl:hasExactSynonym "progressive myoclonic epilepsy type 3" MONDO:0012721 oboInOwl:hasExactSynonym "progressive myoclonus epilepsy type 3" +MONDO:0012721 oboInOwl:hasExactSynonym "progressive myoclonic epilepsy caused by mutation in KCTD7" +MONDO:0012721 oboInOwl:hasExactSynonym "epilepsy, progressive myoclonic 3, with or without intracellular inclusions" +MONDO:0012721 oboInOwl:hasExactSynonym "EPM3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012721 oboInOwl:hasExactSynonym "progressive myoclonic epilepsy due to KCTD7 deficiency" -MONDO:0012721 oboInOwl:hasExactSynonym "progressive myoclonic epilepsy type 3" +MONDO:0012721 oboInOwl:hasExactSynonym "KCTD7 progressive myoclonic epilepsy" +MONDO:0012721 oboInOwl:hasExactSynonym "PME type 3" MONDO:0008433 oboInOwl:hasExactSynonym "small cell neuroendocrine carcinoma of lung" +MONDO:0008433 oboInOwl:hasExactSynonym "small cell cancer of the lung, somatic" MONDO:0008433 oboInOwl:hasExactSynonym "oat cell carcinoma of the lung" MONDO:0008433 oboInOwl:hasExactSynonym "small cell neuroendocrine carcinoma of the lung" MONDO:0008433 oboInOwl:hasExactSynonym "lung small cell neuroendocrine carcinoma" @@ -106104,6 +106542,7 @@ MONDO:0008433 oboInOwl:hasExactSynonym "small cell lung cancer" MONDO:0008433 oboInOwl:hasExactSynonym "lung small cell carcinoma" MONDO:0008433 oboInOwl:hasExactSynonym "lung oat cell carcinoma" MONDO:0008433 oboInOwl:hasExactSynonym "oat cell lung carcinoma" +MONDO:0008433 oboInOwl:hasExactSynonym "small-cell cancer of lung" MONDO:0008433 oboInOwl:hasExactSynonym "small cell carcinoma of the lung" MONDO:0008433 oboInOwl:hasExactSynonym "oat cell carcinoma of lung" MONDO:0012096 oboInOwl:hasExactSynonym "autosomal dominant axonal Charcot-Marie-Tooth disease type 2L" @@ -106116,6 +106555,7 @@ MONDO:0018789 oboInOwl:hasExactSynonym "COL4A1 or COL4A2-related cerebral angiop MONDO:0012272 oboInOwl:hasExactSynonym "intellectual disability, keratoconus, febrile seizures, and sinoatrial block" MONDO:0011983 oboInOwl:hasExactSynonym "autoimmune thyroid disease, susceptibility to, type 4" MONDO:0011983 oboInOwl:hasExactSynonym "autoimmune thyroid disease, susceptibility to, 4" +MONDO:0007236 oboInOwl:hasExactSynonym "branchiootorenal syndrome 1, with or without cataracts" MONDO:0007236 oboInOwl:hasExactSynonym "branchiootorenal syndrome 1" MONDO:0007236 oboInOwl:hasExactSynonym "branchiootorenal syndrome type 1" MONDO:0011828 oboInOwl:hasExactSynonym "CRBN autosomal recessive non-syndromic intellectual disability" @@ -106128,6 +106568,7 @@ MONDO:0014275 oboInOwl:hasExactSynonym "Fanconi renotubular syndrome 3" MONDO:0014275 oboInOwl:hasExactSynonym "EHHADH Fanconi syndrome" MONDO:0014275 oboInOwl:hasExactSynonym "Fanconi renotubular syndrome type 3" MONDO:0010763 oboInOwl:hasExactSynonym "spermatogenic failure, Y-linked, type 1" +MONDO:0010763 oboInOwl:hasExactSynonym "spermatogenic failure, Y-linked, 1, Y-linked" MONDO:0010763 oboInOwl:hasExactSynonym "spermatogenic failure, Y-linked, 1" MONDO:0002958 oboInOwl:hasExactSynonym "skin signet ring cell basal cell carcinoma" MONDO:0002958 oboInOwl:hasExactSynonym "signet Ring cell basal cell carcinoma" @@ -106152,10 +106593,9 @@ CHEBI:18405 oboInOwl:hasExactSynonym "(4-formyl-5-hydroxy-6-methylpyridin-3-yl)m CHEBI:18405 oboInOwl:hasExactSynonym "Pyridoxal 5'-phosphate" MONDO:0009165 oboInOwl:hasExactSynonym "TREX1 Aicardi-Goutieres syndrome" MONDO:0009165 oboInOwl:hasExactSynonym "Aicardi-Goutieres syndrome 1" +MONDO:0009165 oboInOwl:hasExactSynonym "Aicardi-Goutieres syndrome 1, dominant and recessive" MONDO:0009165 oboInOwl:hasExactSynonym "Aicardi-Goutieres syndrome type 1" MONDO:0009165 oboInOwl:hasExactSynonym "Aicardi-Goutieres syndrome caused by mutation in TREX1" -MONDO:0011692 oboInOwl:hasExactSynonym "IBGC2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011692 oboInOwl:hasExactSynonym "basal ganglia calcification, idiopathic, 2" MONDO:0007602 oboInOwl:hasExactSynonym "favism, susceptibility to" MONDO:0014744 oboInOwl:hasExactSynonym "autosomal recessive spinocerebellar ataxia type 21" MONDO:0014744 oboInOwl:hasExactSynonym "autosomal recessive spinocerebellar ataxia 21 with hepatopathy" @@ -106187,7 +106627,9 @@ MONDO:0002444 oboInOwl:hasExactSynonym "depression with melancholic features" MONDO:0002444 oboInOwl:hasExactSynonym "melancholic depression" MONDO:0010290 oboInOwl:hasExactSynonym "goiter, multinodular 2" MONDO:0010290 oboInOwl:hasExactSynonym "MNG2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010290 oboInOwl:hasExactSynonym "goiter, multinodular, 2, X-linked dominant" MONDO:0012786 oboInOwl:hasExactSynonym "juvenile cataract-microcornea-renal glucosuria syndrome" +MONDO:0012786 oboInOwl:hasExactSynonym "cataract 47, juvenile, with microcornea" MONDO:0006843 oboInOwl:hasExactSynonym "macular hole" MONDO:0013732 oboInOwl:hasExactSynonym "glucocorticoid therapy, response to" MONDO:0015457 oboInOwl:hasExactSynonym "Ben Ari-Shuper-Mimouni syndrome" @@ -106198,7 +106640,7 @@ MONDO:0010229 oboInOwl:hasExactSynonym "congenital alopecia" MONDO:0019199 oboInOwl:hasExactSynonym "Ackerman dermatitis syndrome" MONDO:0019199 oboInOwl:hasExactSynonym "IGDA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:23359 oboInOwl:hasExactSynonym "N-(1,2,3,10-tetramethoxy-9-oxo-5,6,7,9-tetrahydrobenzo[a]heptalen-7-yl)acetamide" -MONDO:0000127 oboInOwl:hasExactSynonym "Geleophysic dwarfism" +MONDO:0000127 oboInOwl:hasExactSynonym "geleophysic dwarfism" MONDO:0008212 oboInOwl:hasExactSynonym "Pechet factor deficiency" MONDO:0002327 oboInOwl:hasExactSynonym "intracranial cavernoma" MONDO:0002327 oboInOwl:hasExactSynonym "intracranial cavernous hemangioma" @@ -106260,6 +106702,7 @@ MONDO:0006069 oboInOwl:hasExactSynonym "malignant adrenocorticotropin secreting GO:0019882 oboInOwl:hasExactSynonym "antigen processing" GO:0019882 oboInOwl:hasExactSynonym "antigen presentation" CHEBI:39467 oboInOwl:hasExactSynonym "thiadiazole" +MONDO:0013390 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal recessive 17" MONDO:0013390 oboInOwl:hasExactSynonym "LGMD2Q" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013390 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, type 2Q" MONDO:0013390 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency" @@ -106270,6 +106713,7 @@ MONDO:0030105 oboInOwl:hasExactSynonym "GALACTOSEMIA IV" MONDO:0030105 oboInOwl:hasExactSynonym "GALAC4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012818 oboInOwl:hasExactSynonym "PAX4 maturity-onset diabetes of the young (disease)" MONDO:0012818 oboInOwl:hasExactSynonym "maturity-onset diabetes of the young (disease) caused by mutation in PAX4" +MONDO:0012818 oboInOwl:hasExactSynonym "maturity-onset diabetes of the young, type IX" MONDO:0012818 oboInOwl:hasExactSynonym "MODY9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION PATO:0000402 oboInOwl:hasExactSynonym "ramiform" PATO:0000402 oboInOwl:hasExactSynonym "ramified" @@ -106441,6 +106885,7 @@ MONDO:0007395 oboInOwl:hasExactSynonym "Sommer-Young-Wee-Frye syndrome" MONDO:0007395 oboInOwl:hasExactSynonym "craniofacial-deafness-hand syndrome" MONDO:0007395 oboInOwl:hasExactSynonym "CDHS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007571 oboInOwl:hasExactSynonym "PERYTHM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007571 oboInOwl:hasExactSynonym "small fiber neuropathy" MONDO:0007571 oboInOwl:hasExactSynonym "primary erythromelalgia" MONDO:0012955 oboInOwl:hasExactSynonym "LNCR4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012955 oboInOwl:hasExactSynonym "lung cancer susceptibility 4" @@ -106487,12 +106932,14 @@ MONDO:0015152 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosom GO:0030858 oboInOwl:hasExactSynonym "up regulation of epithelial cell differentiation" GO:0030858 oboInOwl:hasExactSynonym "up-regulation of epithelial cell differentiation" GO:0030858 oboInOwl:hasExactSynonym "upregulation of epithelial cell differentiation" +MONDO:0012274 oboInOwl:hasExactSynonym "acromesomelic dysplasia 3" MONDO:0012274 oboInOwl:hasExactSynonym "AMDD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012274 oboInOwl:hasExactSynonym "acromesomelic dysplasia, Demirhan type" MONDO:0012274 oboInOwl:hasExactSynonym "chondrodysplasia, acromesomelic, with or without genital anomalies" MONDO:0019439 oboInOwl:hasExactSynonym "secondary amyloidosis" MONDO:0019439 oboInOwl:hasExactSynonym "reactive amyloidosis" MONDO:0019439 oboInOwl:hasExactSynonym "inflammatory amyloidosis" +MONDO:0030355 oboInOwl:hasExactSynonym "facioscapulohumeral muscular dystrophy 4, digenic, digenic dominant" MONDO:0030355 oboInOwl:hasExactSynonym "facioscapulohumeral muscular dystrophy 4, digenic" MONDO:0030355 oboInOwl:hasExactSynonym "FSHD4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0009072 oboInOwl:hasExactSynonym "aromatic amino acid family metabolism" @@ -106520,6 +106967,7 @@ MONDO:0002033 oboInOwl:hasExactSynonym "malignant neoplasm of the cecum" MONDO:0002033 oboInOwl:hasExactSynonym "caecum cancer" MONDO:0002033 oboInOwl:hasExactSynonym "malignant caecum neoplasm" GO:0034381 oboInOwl:hasExactSynonym "lipoprotein particle clearance" +MONDO:0044261 oboInOwl:hasExactSynonym "menopause, natural, age at, QTL1, X-linked dominant" MONDO:0030995 oboInOwl:hasExactSynonym "GDSBA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005918 oboInOwl:hasExactSynonym "placenta praevia" MONDO:0005918 oboInOwl:hasExactSynonym "placenta previa" @@ -106590,6 +107038,7 @@ MONDO:0006162 oboInOwl:hasExactSynonym "colorectal carcinoid tumor" MONDO:0009679 oboInOwl:hasExactSynonym "congenital muscular dystrophy producing arthrogryposis" MONDO:0010386 oboInOwl:hasExactSynonym "IMD33" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010386 oboInOwl:hasExactSynonym "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency" +MONDO:0010386 oboInOwl:hasExactSynonym "immunodeficiency 33, X-linked recessive" MONDO:0010386 oboInOwl:hasExactSynonym "X-linked MSMD due to IKBKG deficiency" MONDO:0010386 oboInOwl:hasExactSynonym "immunodeficiency type 33" MONDO:0010386 oboInOwl:hasExactSynonym "IKBKG X-linked mendelian susceptibility to mycobacterial diseases" @@ -106683,6 +107132,7 @@ MONDO:0000910 oboInOwl:hasExactSynonym "retinitis pigmentosa type 6" MONDO:0000910 oboInOwl:hasExactSynonym "RP6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000910 oboInOwl:hasExactSynonym "retinitis pigmentosa 6" MONDO:0007939 oboInOwl:hasExactSynonym "malignant hyperthermia, susceptibility to, type 2" +MONDO:0007939 oboInOwl:hasExactSynonym "malignant hyperthermia susceptibility 2" MONDO:0007939 oboInOwl:hasExactSynonym "malignant hyperthermia, susceptibility to, 2" MONDO:0005665 oboInOwl:hasExactSynonym "Bell's (facial) palsy" MONDO:0005665 oboInOwl:hasExactSynonym "facial nerve palsy" @@ -106693,6 +107143,7 @@ MONDO:0005665 oboInOwl:hasExactSynonym "paralysis Of Facial nerve" MONDO:0005665 oboInOwl:hasExactSynonym "facial palsy" MONDO:0005665 oboInOwl:hasExactSynonym "nerve paralysis, Facial" MONDO:0010282 oboInOwl:hasExactSynonym "mycobacterium tuberculosis, susceptibility to, X-linked" +MONDO:0010282 oboInOwl:hasExactSynonym "mycobacterium tuberculosis, susceptibility, X-linked" GO:0034309 oboInOwl:hasExactSynonym "primary alcohol anabolism" GO:0034309 oboInOwl:hasExactSynonym "primary alcohol synthesis" GO:0034309 oboInOwl:hasExactSynonym "monohydric alcohol biosynthetic process" @@ -106727,8 +107178,10 @@ MONDO:0002640 oboInOwl:hasExactSynonym "second cranial nerve tumor" MONDO:0002640 oboInOwl:hasExactSynonym "neoplasms, second cranial nerve" MONDO:0002640 oboInOwl:hasExactSynonym "tumor of the second cranial nerve" MONDO:0002640 oboInOwl:hasExactSynonym "neoplasm of cranial nerve II" -MONDO:0030997 oboInOwl:hasExactSynonym "mitochondrial complex 1 deficiency, nuclear type 37" MONDO:0030997 oboInOwl:hasExactSynonym "MC1DN37" +MONDO:0030997 oboInOwl:hasExactSynonym "mitochondrial complex I deficiency, nuclear type 37" +MONDO:0030997 oboInOwl:hasExactSynonym "mitochondrial complex 1 deficiency, nuclear type 37" +MONDO:0011376 oboInOwl:hasExactSynonym "ventricular fibrillation, familial, 1" MONDO:0011376 oboInOwl:hasExactSynonym "ventricular fibrillation, paroxysmal familial, type 1" MONDO:0011376 oboInOwl:hasExactSynonym "ventricular fibrillation, paroxysmal familial, 1" MONDO:0011376 oboInOwl:hasExactSynonym "VF1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -106761,9 +107214,6 @@ MONDO:0100087 oboInOwl:hasExactSynonym "Alzheimer disease, familial" HP:0004370 oboInOwl:hasExactSynonym "Poor temperature regulation" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0004370 oboInOwl:hasExactSynonym "Abnormality of temperature regulation" http://purl.obolibrary.org/obo/hp.obo#layperson GO:0060047 oboInOwl:hasExactSynonym "heart beating" -GO:1904480 oboInOwl:hasExactSynonym "up regulation of intestinal absorption" -GO:1904480 oboInOwl:hasExactSynonym "upregulation of intestinal absorption" -GO:1904480 oboInOwl:hasExactSynonym "up-regulation of intestinal absorption" MONDO:0013819 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant type 14" MONDO:0013819 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant type 14" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0013819 oboInOwl:hasExactSynonym "ARID1A-related BAFopathy" @@ -106774,8 +107224,12 @@ MONDO:0013819 oboInOwl:hasExactSynonym "ARID1A Coffin-Siris syndrome" MONDO:0013819 oboInOwl:hasExactSynonym "CSS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013819 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant 14" MONDO:0013819 oboInOwl:hasExactSynonym "autosomal dominant mental retardation 14" http://purl.obolibrary.org/obo/mondo#DEPRECATED +GO:1904480 oboInOwl:hasExactSynonym "up regulation of intestinal absorption" +GO:1904480 oboInOwl:hasExactSynonym "upregulation of intestinal absorption" +GO:1904480 oboInOwl:hasExactSynonym "up-regulation of intestinal absorption" MONDO:0014180 oboInOwl:hasExactSynonym "DST-related epidermolysis bullosa simplex" MONDO:0014180 oboInOwl:hasExactSynonym "EBS-AR BP230" +MONDO:0014180 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency" MONDO:0014180 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex, autosomal recessive type 2" MONDO:0014180 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex due to BP230 deficiency" MONDO:0001303 oboInOwl:hasExactSynonym "abnormal pupillary function (disease)" @@ -106847,6 +107301,7 @@ MONDO:0004319 oboInOwl:hasExactSynonym "SCCOHT" http://purl.obolibrary.org/obo/m MONDO:0004319 oboInOwl:hasExactSynonym "ovarian small cell carcinoma, hypercalcemic type" MONDO:0015365 oboInOwl:hasExactSynonym "hereditary sensory and autonomic neuropathy, autosomal dominant" MONDO:0016007 oboInOwl:hasExactSynonym "fetal cocaine syndrome" +MONDO:0007718 oboInOwl:hasExactSynonym "hepatic adenoma, somatic" MONDO:0007718 oboInOwl:hasExactSynonym "hepatic adenomas, familial" MONDO:0009773 oboInOwl:hasExactSynonym "OODD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009773 oboInOwl:hasExactSynonym "ectodermal dysplasia" @@ -106868,6 +107323,7 @@ MONDO:0008707 oboInOwl:hasExactSynonym "split hand/split foot-mandibular hypopla MONDO:0015248 oboInOwl:hasExactSynonym "Fenton-Wilkinson-Toselano syndrome" MONDO:0017880 oboInOwl:hasExactSynonym "RVF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011155 oboInOwl:hasExactSynonym "vacuolar Neuromyopathy" +MONDO:0011155 oboInOwl:hasExactSynonym "muscular dystrophy with rimmed vacuoles" MONDO:0002289 oboInOwl:hasExactSynonym "iris disease" MONDO:0002289 oboInOwl:hasExactSynonym "disease or disorder of iris" MONDO:0002289 oboInOwl:hasExactSynonym "iris disorder" @@ -106881,6 +107337,7 @@ MONDO:0016951 oboInOwl:hasExactSynonym "partial duplication/triplication of chro MONDO:0013702 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 27" MONDO:0013702 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 27" MONDO:0013702 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 27" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0013702 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 27" MONDO:0013702 oboInOwl:hasExactSynonym "autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1" MONDO:0013702 oboInOwl:hasExactSynonym "LINS1 autosomal recessive non-syndromic intellectual disability" MONDO:0019323 oboInOwl:hasExactSynonym "seborrheic pemphigus" @@ -106903,8 +107360,8 @@ MONDO:0014809 oboInOwl:hasExactSynonym "DDX41 hereditary neoplastic syndrome" CHEBI:18237 oboInOwl:hasExactSynonym "2-aminopentanedioic acid" CHEBI:18237 oboInOwl:hasExactSynonym "Glutamic acid" CHEBI:18237 oboInOwl:hasExactSynonym "glutamic acid" -MONDO:0014993 oboInOwl:hasExactSynonym "myofibrillar myopathy (disease) caused by mutation in PYROXD1" MONDO:0014993 oboInOwl:hasExactSynonym "PYROXD1 myofibrillar myopathy (disease)" +MONDO:0014993 oboInOwl:hasExactSynonym "myofibrillar myopathy (disease) caused by mutation in PYROXD1" MONDO:0014993 oboInOwl:hasExactSynonym "myofibrillar myopathy 8" MONDO:0014993 oboInOwl:hasExactSynonym "myopathy, myofibrillar, 8" MONDO:0014993 oboInOwl:hasExactSynonym "myopathy, myofibrillar, type 8" @@ -106969,6 +107426,7 @@ MONDO:0002350 oboInOwl:hasExactSynonym "hereditary nephrotic syndrome" GO:0030522 oboInOwl:hasExactSynonym "intracellular receptor-mediated signalling pathway" GO:0030522 oboInOwl:hasExactSynonym "intracellular receptor-mediated signaling pathway" GO:0030522 oboInOwl:hasExactSynonym "intracellular receptor mediated signaling pathway" +MONDO:0032796 oboInOwl:hasExactSynonym "hyper-IgE recurrent infection syndrome 4B, autosomal recessive" MONDO:0024622 oboInOwl:hasExactSynonym "thyroid gland adenocarcinoma" MONDO:0024622 oboInOwl:hasExactSynonym "thyroid adenocarcinoma" NCBITaxon:11623 oboInOwl:hasExactSynonym "Lymphocytic choriomeningitis virus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name @@ -106983,6 +107441,7 @@ MONDO:0009623 oboInOwl:hasExactSynonym "AT V1" MONDO:0009623 oboInOwl:hasExactSynonym "Seemanova syndrome" MONDO:0009623 oboInOwl:hasExactSynonym "Seemanova syndrome type 2" MONDO:0009623 oboInOwl:hasExactSynonym "Nijmegen breakage syndrome" +MONDO:0044270 oboInOwl:hasExactSynonym "bilirubin, serum level of, QTL1" MONDO:0003279 oboInOwl:hasExactSynonym "testicular infarction" MONDO:0003279 oboInOwl:hasExactSynonym "infarction of testis" GO:0070295 oboInOwl:hasExactSynonym "renal water reabsorption" @@ -107024,10 +107483,10 @@ MONDO:0002549 oboInOwl:hasExactSynonym "schwannoma of hypoglossal nerve" MONDO:0002549 oboInOwl:hasExactSynonym "twelfth cranial nerve schwannoma" MONDO:0002549 oboInOwl:hasExactSynonym "schwannoma of twelfth cranial nerve" MONDO:0016604 oboInOwl:hasExactSynonym "Medeira-Dennis-Donnai syndrome" -MONDO:0013704 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 30" -MONDO:0013704 oboInOwl:hasExactSynonym "MRT30" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:24870 oboInOwl:hasExactSynonym "ion" CHEBI:24870 oboInOwl:hasExactSynonym "Ion" +MONDO:0013704 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 30" +MONDO:0013704 oboInOwl:hasExactSynonym "MRT30" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007237 oboInOwl:hasExactSynonym "virginal breast hypertrophy" MONDO:0007237 oboInOwl:hasExactSynonym "familial juvenile gigantomastia" MONDO:0007237 oboInOwl:hasExactSynonym "juvenile macromastia" @@ -107036,6 +107495,7 @@ MONDO:0007237 oboInOwl:hasExactSynonym "virginal mammary hypertrophy" MONDO:0018804 oboInOwl:hasExactSynonym "MYO5B deficiency" HP:0031899 oboInOwl:hasExactSynonym "Abnormal factor V activity" MONDO:0044660 oboInOwl:hasExactSynonym "menstrual cycle-dependent febrile episode" +MONDO:0044660 oboInOwl:hasExactSynonym "periodic fever, menstrual cycle dependent" MONDO:0044660 oboInOwl:hasExactSynonym "luteal-phase-dependent febrile episode" MONDO:0044660 oboInOwl:hasExactSynonym "periodic fever, menstrual cycle-dependent" MONDO:0044660 oboInOwl:hasExactSynonym "luteal-phase-dependent periodic fever" @@ -107097,15 +107557,19 @@ MONDO:0003340 oboInOwl:hasExactSynonym "malignant glomus neoplasm" MONDO:0003340 oboInOwl:hasExactSynonym "malignant glomus tumor" MONDO:0003340 oboInOwl:hasExactSynonym "glomus tumor, malignant" MONDO:0008584 oboInOwl:hasExactSynonym "torus palatinus and torus mandibularis" +MONDO:0013139 oboInOwl:hasExactSynonym "neutropenia, severe congenital 2, autosomal dominant" MONDO:0013139 oboInOwl:hasExactSynonym "autosomal dominant severe congenital neutropenia caused by mutation in GFI1" MONDO:0013139 oboInOwl:hasExactSynonym "GFI1 autosomal dominant severe congenital neutropenia" MONDO:0013139 oboInOwl:hasExactSynonym "neutropenia, severe congenital, 2, autosomal dominant" +MONDO:0007970 oboInOwl:hasExactSynonym "melorheostosis, isolated, somatic mosaic" MONDO:0014276 oboInOwl:hasExactSynonym "combined immunodeficiency due to CD3gamma deficiency" +MONDO:0014276 oboInOwl:hasExactSynonym "immunodeficiency 17, CD3 gamma deficient" MONDO:0014276 oboInOwl:hasExactSynonym "immunodeficiency type 17" MONDO:0014276 oboInOwl:hasExactSynonym "CD3gamma deficiency" MONDO:0010764 oboInOwl:hasExactSynonym "DFNY1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012964 oboInOwl:hasExactSynonym "telomeric 15q deletion syndrome" MONDO:0012964 oboInOwl:hasExactSynonym "Drayer syndrome" +MONDO:0012964 oboInOwl:hasExactSynonym "chromosome 15q26-qter deletion syndrome, isolated cases" MONDO:0012964 oboInOwl:hasExactSynonym "15q26 deletion syndrome" MONDO:0012964 oboInOwl:hasExactSynonym "chromosome 15q26-qter deletion syndrome" MONDO:0012964 oboInOwl:hasExactSynonym "distal monosomy 15q" @@ -107118,6 +107582,7 @@ HP:0000989 oboInOwl:hasExactSynonym "Itching" http://purl.obolibrary.org/obo/hp. HP:0000989 oboInOwl:hasExactSynonym "Skin itching" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0011710 oboInOwl:hasExactSynonym "specific language impairment 1" MONDO:0011710 oboInOwl:hasExactSynonym "SLI1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011710 oboInOwl:hasExactSynonym "specific language impairment QTL, 1" GO:1901607 oboInOwl:hasExactSynonym "alpha-amino acid synthesis" GO:1901607 oboInOwl:hasExactSynonym "alpha-amino acid formation" GO:1901607 oboInOwl:hasExactSynonym "alpha-amino acid biosynthesis" @@ -107164,6 +107629,7 @@ MONDO:0007603 oboInOwl:hasExactSynonym "Felty's syndrome" MONDO:0008959 oboInOwl:hasExactSynonym "CHANDS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008959 oboInOwl:hasExactSynonym "CHAND syndrome" MONDO:0013872 oboInOwl:hasExactSynonym "prostate cancer, hereditary, type 2" +MONDO:0013872 oboInOwl:hasExactSynonym "prostate cancer, hereditary, 2, susceptibility to" MONDO:0013872 oboInOwl:hasExactSynonym "familial prostate cancer caused by mutation in ELAC2" MONDO:0013872 oboInOwl:hasExactSynonym "ELAC2 familial prostate cancer" MONDO:0013872 oboInOwl:hasExactSynonym "prostate cancer, hereditary, 2" @@ -107172,10 +107638,13 @@ MONDO:0021108 oboInOwl:hasExactSynonym "meningitis" MONDO:0021108 oboInOwl:hasExactSynonym "inflammation of meninx" MONDO:0021108 oboInOwl:hasExactSynonym "meninx inflammation" MONDO:0012819 oboInOwl:hasExactSynonym "ketosis-prone diabetes mellitus" +MONDO:0012819 oboInOwl:hasExactSynonym "diabetes mellitus, ketosis-prone, susceptibility to" MONDO:0012819 oboInOwl:hasExactSynonym "diabetes mellitus, ketosis-prone" MONDO:0016062 oboInOwl:hasExactSynonym "median cleft lower facial stage" MONDO:0024507 oboInOwl:hasExactSynonym "aniridia 1" MONDO:0024507 oboInOwl:hasExactSynonym "AN1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0024507 oboInOwl:hasExactSynonym "cataract with late-onset corneal dystrophy" +MONDO:0024507 oboInOwl:hasExactSynonym "aniridia" ECTO:0500000 oboInOwl:hasExactSynonym "environmental disposition exposure" MONDO:0000284 oboInOwl:hasExactSynonym "nephropathis epidemica" GO:0014061 oboInOwl:hasExactSynonym "regulation of noradrenaline secretion" @@ -107227,6 +107696,7 @@ MONDO:0010543 oboInOwl:hasExactSynonym "3-Methylglutaconicaciduria type 2" MONDO:0010543 oboInOwl:hasExactSynonym "MGA type 2" MONDO:0010543 oboInOwl:hasExactSynonym "MGA2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010543 oboInOwl:hasExactSynonym "cardioskeletal myopathy with neutropenia and abnormal mitochondria" +MONDO:0010543 oboInOwl:hasExactSynonym "Barth syndrome, X-linked recessive" MONDO:0010543 oboInOwl:hasExactSynonym "Barth syndrome" MONDO:0010543 oboInOwl:hasExactSynonym "3-Methylglutaconicaciduria type II" MONDO:0010543 oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type 2" @@ -107256,11 +107726,6 @@ MONDO:0014465 oboInOwl:hasExactSynonym "CILD30" http://purl.obolibrary.org/obo/m MONDO:0014465 oboInOwl:hasExactSynonym "CCDC151 primary ciliary dyskinesia" MONDO:0014465 oboInOwl:hasExactSynonym "ciliary dyskinesia, primary, type 30" GO:2000035 oboInOwl:hasExactSynonym "regulation of stem cell renewal" -MONDO:0005058 oboInOwl:hasExactSynonym "leiomyosarcoma, malignant" -MONDO:0005058 oboInOwl:hasExactSynonym "Leiomyosarcomas" -MONDO:0005058 oboInOwl:hasExactSynonym "leiomyosarcoma" -MONDO:0005058 oboInOwl:hasExactSynonym "leiomyosarcoma - not uterine" -MONDO:0005058 oboInOwl:hasExactSynonym "leiomyosarcoma (excluding uterine leiomyosarcoma)" MONDO:0011281 oboInOwl:hasExactSynonym "congenital myasthenic syndrome 5" MONDO:0011281 oboInOwl:hasExactSynonym "end plate acetylcholinesterase deficiency" MONDO:0011281 oboInOwl:hasExactSynonym "EAD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -107273,6 +107738,11 @@ MONDO:0011281 oboInOwl:hasExactSynonym "congenital myasthenic syndrome caused by MONDO:0011281 oboInOwl:hasExactSynonym "myasthenic syndrome, congenital, type 5" MONDO:0011281 oboInOwl:hasExactSynonym "Engel congenital myasthenic syndrome" MONDO:0011281 oboInOwl:hasExactSynonym "congenital myasthenic syndrome type 5" +MONDO:0005058 oboInOwl:hasExactSynonym "leiomyosarcoma, malignant" +MONDO:0005058 oboInOwl:hasExactSynonym "Leiomyosarcomas" +MONDO:0005058 oboInOwl:hasExactSynonym "leiomyosarcoma" +MONDO:0005058 oboInOwl:hasExactSynonym "leiomyosarcoma - not uterine" +MONDO:0005058 oboInOwl:hasExactSynonym "leiomyosarcoma (excluding uterine leiomyosarcoma)" GO:1901859 oboInOwl:hasExactSynonym "negative regulation of mtDNA metabolic process" GO:1901859 oboInOwl:hasExactSynonym "downregulation of mtDNA metabolism" GO:1901859 oboInOwl:hasExactSynonym "inhibition of mtDNA metabolism" @@ -107291,9 +107761,10 @@ GO:1901859 oboInOwl:hasExactSynonym "negative regulation of mtDNA metabolism" GO:1901859 oboInOwl:hasExactSynonym "downregulation of mitochondrial DNA metabolic process" GO:1901859 oboInOwl:hasExactSynonym "down regulation of mtDNA metabolism" GO:1901859 oboInOwl:hasExactSynonym "down-regulation of mtDNA metabolism" +MONDO:0008434 oboInOwl:hasExactSynonym "17p11.2 microdeletion syndrome" MONDO:0008434 oboInOwl:hasExactSynonym "chromosome 17p11.2 deletion syndrome" MONDO:0008434 oboInOwl:hasExactSynonym "Smith-Magenis syndrome" -MONDO:0008434 oboInOwl:hasExactSynonym "17p11.2 microdeletion syndrome" +MONDO:0008434 oboInOwl:hasExactSynonym "Smith-Magenis syndrome, Isolated cases" MONDO:0012097 oboInOwl:hasExactSynonym "spondylocostal dysostosis 2, autosomal recessive" MONDO:0016448 oboInOwl:hasExactSynonym "PXE-PDE" MONDO:0016448 oboInOwl:hasExactSynonym "PXE-like papillary dermal elastolysis" @@ -107322,6 +107793,7 @@ GO:1905030 oboInOwl:hasExactSynonym "voltage gated ion channel activity involved GO:1905030 oboInOwl:hasExactSynonym "voltage-dependent ion channel activity involved in regulation of post-synaptic membrane potential" GO:1905030 oboInOwl:hasExactSynonym "voltage gated ion channel activity involved in regulation of postsynaptic membrane potential" MONDO:0013304 oboInOwl:hasExactSynonym "von willebrand's disease 2" +MONDO:0013304 oboInOwl:hasExactSynonym "von Willebrand disease, types 2A, 2B, 2M, and 2N" MONDO:0013304 oboInOwl:hasExactSynonym "von Willebrand disease type II" MONDO:0013304 oboInOwl:hasExactSynonym "von Willebrand's disease type 2" MONDO:0013304 oboInOwl:hasExactSynonym "von Willebrand disease type 2" @@ -107347,14 +107819,24 @@ MONDO:0021276 oboInOwl:hasExactSynonym "buccal mucosa papilloma" SO:0000342 oboInOwl:hasExactSynonym "site specific recombination target region" MONDO:0008903 oboInOwl:hasExactSynonym "malignant neoplasm of lung" MONDO:0008903 oboInOwl:hasExactSynonym "malignant lung neoplasm" +MONDO:0008903 oboInOwl:hasExactSynonym "lung cancer, somatic" +MONDO:0008903 oboInOwl:hasExactSynonym "nonsmall cell lung cancer, somatic" MONDO:0008903 oboInOwl:hasExactSynonym "malignant tumor of the lung" +MONDO:0008903 oboInOwl:hasExactSynonym "lung cancer, protection against, autosomal dominant, somatic mutation" MONDO:0008903 oboInOwl:hasExactSynonym "malignant tumor of lung" +MONDO:0008903 oboInOwl:hasExactSynonym "lung cancer, susceptibility to, autosomal dominant, somatic mutation" MONDO:0008903 oboInOwl:hasExactSynonym "malignant lung tumor" MONDO:0008903 oboInOwl:hasExactSynonym "lung cancer" +MONDO:0008903 oboInOwl:hasExactSynonym "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation" MONDO:0008903 oboInOwl:hasExactSynonym "cancer of lung" MONDO:0008903 oboInOwl:hasExactSynonym "malignant neoplasm of the lung" +MONDO:0008903 oboInOwl:hasExactSynonym "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation" +MONDO:0008903 oboInOwl:hasExactSynonym "lung cancer, resistance to, autosomal dominant, somatic mutation" +MONDO:0008903 oboInOwl:hasExactSynonym "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation" +MONDO:0008903 oboInOwl:hasExactSynonym "adenocarcinoma of lung, somatic" MONDO:0010113 oboInOwl:hasExactSynonym "thalidomide susceptibility" MONDO:0012566 oboInOwl:hasExactSynonym "autism, susceptibility to, 11" +MONDO:0012566 oboInOwl:hasExactSynonym "autism susceptibility 11" MONDO:0012566 oboInOwl:hasExactSynonym "AUTS11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0060783 oboInOwl:hasExactSynonym "classic CAH" MONDO:0060783 oboInOwl:hasExactSynonym "classic congenital adrenal hyperplasia" @@ -107402,6 +107884,7 @@ MONDO:0018493 oboInOwl:hasExactSynonym "anesthesia related hyperthermia" MONDO:0018493 oboInOwl:hasExactSynonym "malignant hyperpyrexia" MONDO:0018493 oboInOwl:hasExactSynonym "hyperthermia of anesthesia" MONDO:0009331 oboInOwl:hasExactSynonym "hemi 3 syndrome" +MONDO:0009331 oboInOwl:hasExactSynonym "hemihypertrophy" MONDO:0009331 oboInOwl:hasExactSynonym "Hemicorporal hypertrophy" MONDO:0009331 oboInOwl:hasExactSynonym "isolated hemihypertrophy" CHEBI:64577 oboInOwl:hasExactSynonym "flour treatment agent" @@ -107477,6 +107960,8 @@ MONDO:0021902 oboInOwl:hasExactSynonym "AP window" MONDO:0021902 oboInOwl:hasExactSynonym "aortopulmonary septal defect" MONDO:0021902 oboInOwl:hasExactSynonym "aortopulmonary window" MONDO:0021902 oboInOwl:hasExactSynonym "APSD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020705 oboInOwl:hasExactSynonym "neural tube defects" +MONDO:0020705 oboInOwl:hasExactSynonym "spina bifida, susceptibility to" MONDO:0036779 oboInOwl:hasExactSynonym "axillary neoplasm" MONDO:0036779 oboInOwl:hasExactSynonym "neoplasm of axilla" MONDO:0036779 oboInOwl:hasExactSynonym "axilla tumor" @@ -107540,6 +108025,7 @@ MONDO:0005223 oboInOwl:hasExactSynonym "minimally differentiated acute myeloblas MONDO:0005223 oboInOwl:hasExactSynonym "acute myeloblastic leukemia with minimal differentiation" MONDO:0005223 oboInOwl:hasExactSynonym "acute myeloid leukemia, minimally differentiated" MONDO:0005223 oboInOwl:hasExactSynonym "AML with minimal differentiation" +MONDO:0034054 oboInOwl:hasExactSynonym "lymphoproliferative syndrome 3" HP:0002715 oboInOwl:hasExactSynonym "Immunological abnormality" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0002715 oboInOwl:hasExactSynonym "Abnormality of the immune system" http://purl.obolibrary.org/obo/hp.obo#layperson GO:0014053 oboInOwl:hasExactSynonym "negative regulation of GABA secretion" @@ -107583,8 +108069,11 @@ MONDO:0019261 oboInOwl:hasExactSynonym "Hagberg-Santavuori disease" MONDO:0018304 oboInOwl:hasExactSynonym "chronic urticaria with gammopathy" MONDO:0018304 oboInOwl:hasExactSynonym "chronic urticaria with macroglobulinemia" MONDO:0001139 oboInOwl:hasExactSynonym "sexual masochism" +MONDO:0011789 oboInOwl:hasExactSynonym "meningioma, NF2-related, somatic" MONDO:0011789 oboInOwl:hasExactSynonym "hereditary meningioma (disease)" +MONDO:0011789 oboInOwl:hasExactSynonym "meningioma, SIS-related" MONDO:0011789 oboInOwl:hasExactSynonym "familial meningioma" +MONDO:0011789 oboInOwl:hasExactSynonym "meningioma" MONDO:0011789 oboInOwl:hasExactSynonym "hereditary meningioma" MONDO:0021484 oboInOwl:hasExactSynonym "maxillary sinus benign neoplasm" MONDO:0021484 oboInOwl:hasExactSynonym "benign tumor of maxillary sinus" @@ -107641,6 +108130,9 @@ MONDO:0013148 oboInOwl:hasExactSynonym "Brugada syndrome caused by mutation in H MONDO:0013148 oboInOwl:hasExactSynonym "BRGDA8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003654 oboInOwl:hasExactSynonym "childhood parosteal osteogenic sarcoma" MONDO:0003654 oboInOwl:hasExactSynonym "childhood parosteal osteosarcoma" +MONDO:0007396 oboInOwl:hasExactSynonym "craniofacial dysostosis-diaphyseal hyperplasia syndrome" +MONDO:0007396 oboInOwl:hasExactSynonym "Stanescu osteosclerosis" +MONDO:0007396 oboInOwl:hasExactSynonym "autosomal dominant osteosclerosis, Stanescu type" MONDO:0004173 oboInOwl:hasExactSynonym "carcinoma of paraurethral gland" MONDO:0004173 oboInOwl:hasExactSynonym "paraurethral gland carcinoma" MONDO:0004173 oboInOwl:hasExactSynonym "adenocarcinoma of Skene gland origin" @@ -107649,9 +108141,6 @@ MONDO:0004173 oboInOwl:hasExactSynonym "carcinoma of the paraurethral gland" MONDO:0004173 oboInOwl:hasExactSynonym "carcinoma of Skene's gland" MONDO:0004173 oboInOwl:hasExactSynonym "paraurethral gland adenocarcinoma" MONDO:0004173 oboInOwl:hasExactSynonym "carcinoma of Skene gland" -MONDO:0007396 oboInOwl:hasExactSynonym "craniofacial dysostosis-diaphyseal hyperplasia syndrome" -MONDO:0007396 oboInOwl:hasExactSynonym "Stanescu osteosclerosis" -MONDO:0007396 oboInOwl:hasExactSynonym "autosomal dominant osteosclerosis, Stanescu type" MONDO:0003830 oboInOwl:hasExactSynonym "type 1 papillary adenoma of the kidney" MONDO:0003830 oboInOwl:hasExactSynonym "type 1 renal papillary adenoma" MONDO:0013031 oboInOwl:hasExactSynonym "chromosome 5Q14.3 deletion syndrome, distal" @@ -107660,11 +108149,15 @@ NCBITaxon:28844 oboInOwl:hasExactSynonym "fish tapeworms" http://purl.obolibrary NCBITaxon:28844 oboInOwl:hasExactSynonym "broad tapeworms" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name MONDO:0007572 oboInOwl:hasExactSynonym "primary familial and congenital polycythemia" MONDO:0007572 oboInOwl:hasExactSynonym "erythrocytosis, familial, type 1" +MONDO:0007572 oboInOwl:hasExactSynonym "familial erythrocytosis 1" MONDO:0007572 oboInOwl:hasExactSynonym "congenital erythrocytosis due to erythropoietin receptor mutation" +MONDO:0007572 oboInOwl:hasExactSynonym "erythrocytosis, somatic" MONDO:0007572 oboInOwl:hasExactSynonym "familial erythrocytosis" MONDO:0007572 oboInOwl:hasExactSynonym "familial erythrocytosis type 1" MONDO:0007572 oboInOwl:hasExactSynonym "familial polycythemia caused by mutation in EPOR" MONDO:0007572 oboInOwl:hasExactSynonym "congenital polycythemia due to erythropoietin receptor mutation" +MONDO:0007572 oboInOwl:hasExactSynonym "erythrocytosis, familial, 1" +MONDO:0007572 oboInOwl:hasExactSynonym "familial erythrocytosis, 1" MONDO:0007572 oboInOwl:hasExactSynonym "PFCP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007572 oboInOwl:hasExactSynonym "primary congenital erythrocytosis" MONDO:0007572 oboInOwl:hasExactSynonym "EPOR familial polycythemia" @@ -107686,7 +108179,10 @@ MONDO:0003184 oboInOwl:hasExactSynonym "trachea carcinoma" MONDO:0003184 oboInOwl:hasExactSynonym "carcinoma of the trachea" MONDO:0003184 oboInOwl:hasExactSynonym "carcinoma of trachea" MONDO:0003184 oboInOwl:hasExactSynonym "cancer of the trachea" +MONDO:0054813 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome, classic-like, 2" +MONDO:0054813 oboInOwl:hasExactSynonym "EDSCLL2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012136 oboInOwl:hasExactSynonym "Carnitine palmitoyl transferase deficiency type 2, lethal systemic form" +MONDO:0012136 oboInOwl:hasExactSynonym "CPT II deficiency, lethal neonatal" MONDO:0012136 oboInOwl:hasExactSynonym "CPT2, lethal systemic form" MONDO:0012136 oboInOwl:hasExactSynonym "Carnitine palmitoyl transferase deficiency type 2, neonatal form" MONDO:0012136 oboInOwl:hasExactSynonym "CPT2, neonatal form" @@ -107694,8 +108190,6 @@ MONDO:0012136 oboInOwl:hasExactSynonym "CPTII, neonatal form" MONDO:0012136 oboInOwl:hasExactSynonym "Carnitine palmitoyl transferase II deficiency, lethal systemic form" MONDO:0012136 oboInOwl:hasExactSynonym "CPTII, lethal systemic form" MONDO:0012136 oboInOwl:hasExactSynonym "carnitine palmitoyl transferase II deficiency, neonatal form" -MONDO:0054813 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome, classic-like, 2" -MONDO:0054813 oboInOwl:hasExactSynonym "EDSCLL2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP:0001873 oboInOwl:hasExactSynonym "Low platelet count" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0001872 oboInOwl:hasExactSynonym "obsolete vestibular nystagmus (disease)" MONDO:0001872 oboInOwl:hasExactSynonym "Nystagmus associated with disorder of the vestibular system" @@ -107735,11 +108229,13 @@ MONDO:0005412 oboInOwl:hasExactSynonym "curling's ulcers" MONDO:0000724 oboInOwl:hasExactSynonym "language impairment (disease)" MONDO:0013538 oboInOwl:hasExactSynonym "alpha-2-macroglobulin deficiency" MONDO:0024560 oboInOwl:hasExactSynonym "PDA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0024560 oboInOwl:hasExactSynonym "patent ductus arteriosus, susceptibility to" MONDO:0011377 oboInOwl:hasExactSynonym "SCN5A long QT syndrome" MONDO:0011377 oboInOwl:hasExactSynonym "long QT syndrome type 3" MONDO:0011377 oboInOwl:hasExactSynonym "long QT syndrome caused by mutation in SCN5A" MONDO:0011377 oboInOwl:hasExactSynonym "LQT3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011377 oboInOwl:hasExactSynonym "long QT syndrome 3" +MONDO:0007962 oboInOwl:hasExactSynonym "macrodactyly, somatic, (3), cerebral cavernous malformations 4, somatic" MONDO:0007962 oboInOwl:hasExactSynonym "Megalodactyly" MONDO:0017137 oboInOwl:hasExactSynonym "volvulosis" MONDO:0017137 oboInOwl:hasExactSynonym "onchocerciasis" @@ -107759,6 +108255,7 @@ MONDO:0010283 oboInOwl:hasExactSynonym "mental retardation, X-linked, with recur MONDO:0010283 oboInOwl:hasExactSynonym "distal duplication Xq" MONDO:0010283 oboInOwl:hasExactSynonym "MRXSL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010283 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic, Lubs type" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010283 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive" MONDO:0010283 oboInOwl:hasExactSynonym "syndromic X-linked intellectual disability Lubs type" MONDO:0010283 oboInOwl:hasExactSynonym "Lubs X-linked mental retardation syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010283 oboInOwl:hasExactSynonym "telomeric duplication Xq" @@ -107791,6 +108288,7 @@ MONDO:0010997 oboInOwl:hasExactSynonym "Steele-Richardson-Olszewski disease" MONDO:0010997 oboInOwl:hasExactSynonym "supranuclear palsy, progressive, 1" MONDO:0010997 oboInOwl:hasExactSynonym "PSP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010997 oboInOwl:hasExactSynonym "classic PSP syndrome" +MONDO:0010997 oboInOwl:hasExactSynonym "supranuclear palsy, progressive" HP:0011146 oboInOwl:hasExactSynonym "Unknown onset behavioral arrest seizure with impairment of awareness" HP:0011146 oboInOwl:hasExactSynonym "Behavioral arrest seizure with impairment of awareness irrespective of onset" HP:0011146 oboInOwl:hasExactSynonym "Unknown onset behavioural arrest seizure with impairment of awareness" @@ -107802,9 +108300,9 @@ MONDO:0044997 oboInOwl:hasExactSynonym "disease of midbrain" MONDO:0044997 oboInOwl:hasExactSynonym "midbrain disease" MONDO:0016093 oboInOwl:hasExactSynonym "low malignant potential ovarian tumor" MONDO:0016093 oboInOwl:hasExactSynonym "ovarian low malignant potential tumor" +MONDO:0016093 oboInOwl:hasExactSynonym "ovarian borderline malignant tumor" MONDO:0016093 oboInOwl:hasExactSynonym "epithelial tumor of the ovary of borderline malignancy" MONDO:0016093 oboInOwl:hasExactSynonym "borderline ovarian surface epithelial-stromal tumor" -MONDO:0016093 oboInOwl:hasExactSynonym "ovarian borderline malignant tumor" MONDO:0016093 oboInOwl:hasExactSynonym "epithelial ovarian tumor of borderline malignancy" MONDO:0016093 oboInOwl:hasExactSynonym "borderline ovarian epithelial neoplasm" MONDO:0016093 oboInOwl:hasExactSynonym "borderline epithelial tumor of ovary" @@ -107822,9 +108320,9 @@ MONDO:0016093 oboInOwl:hasExactSynonym "ovarian tum. of low malig. poten." MONDO:0015366 oboInOwl:hasExactSynonym "hereditary sensory and autonomic neuropathy, autosomal recessive" MONDO:0016008 oboInOwl:hasExactSynonym "phenytoin embryofetopathy" MONDO:0016008 oboInOwl:hasExactSynonym "fetal dihydantoin syndrome" +MONDO:0009774 oboInOwl:hasExactSynonym "cloacal exstrophy (disease)" MONDO:0009774 oboInOwl:hasExactSynonym "cloacal exstrophy" MONDO:0009774 oboInOwl:hasExactSynonym "omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome" -MONDO:0009774 oboInOwl:hasExactSynonym "cloacal exstrophy (disease)" MONDO:0017566 oboInOwl:hasExactSynonym "macrodactyly of foot, unilateral" MONDO:0008404 oboInOwl:hasExactSynonym "scalp-ear-nipple syndrome" MONDO:0008404 oboInOwl:hasExactSynonym "Finlay-Marks syndrome" @@ -107850,9 +108348,9 @@ GO:0045912 oboInOwl:hasExactSynonym "downregulation of carbohydrate metabolic pr GO:0045912 oboInOwl:hasExactSynonym "negative regulation of carbohydrate metabolism" MONDO:0008372 oboInOwl:hasExactSynonym "retinal aplasia" MONDO:0008708 oboInOwl:hasExactSynonym "Schinzel syndrome 1" -MONDO:0008708 oboInOwl:hasExactSynonym "Schinzel acrocallosal syndrome" -MONDO:0008708 oboInOwl:hasExactSynonym "ACS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008708 oboInOwl:hasExactSynonym "acrocallosal syndrome" +MONDO:0008708 oboInOwl:hasExactSynonym "ACS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008708 oboInOwl:hasExactSynonym "Schinzel acrocallosal syndrome" MONDO:0008708 oboInOwl:hasExactSynonym "ACLS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017881 oboInOwl:hasExactSynonym "Kyasanur hemorrhagic fever" MONDO:0017881 oboInOwl:hasExactSynonym "monkey fever" @@ -107884,13 +108382,13 @@ MONDO:0019629 oboInOwl:hasExactSynonym "isolated congenital sclerocornea" MONDO:0019629 oboInOwl:hasExactSynonym "sclerocornea (disease)" MONDO:0016815 oboInOwl:hasExactSynonym "infantile subacute necrotizing encephalopathy with leukodystrophy" MONDO:0016815 oboInOwl:hasExactSynonym "Leigh disease with leukodystrophy" -MONDO:0002036 oboInOwl:hasExactSynonym "penis disease or disorder" MONDO:0002036 oboInOwl:hasExactSynonym "penile disorder" MONDO:0002036 oboInOwl:hasExactSynonym "disorder of penis" MONDO:0002036 oboInOwl:hasExactSynonym "disease of penis" MONDO:0002036 oboInOwl:hasExactSynonym "penile disease" MONDO:0002036 oboInOwl:hasExactSynonym "penis disease" MONDO:0002036 oboInOwl:hasExactSynonym "disease or disorder of penis" +MONDO:0002036 oboInOwl:hasExactSynonym "penis disease or disorder" MONDO:0019996 oboInOwl:hasExactSynonym "rare heart disease" MONDO:0020478 oboInOwl:hasExactSynonym "LHON plus disease" MONDO:0004225 oboInOwl:hasExactSynonym "monoclonal gammopathy of unknown significance" @@ -107956,6 +108454,7 @@ MONDO:0006365 oboInOwl:hasExactSynonym "Peutz-Jeghers polyp" MONDO:0006365 oboInOwl:hasExactSynonym "Peutz Jeghers polyp" MONDO:0015771 oboInOwl:hasExactSynonym "Mosaic trisomy type 7" MONDO:0008795 oboInOwl:hasExactSynonym "Gillespie syndrome" +MONDO:0009741 oboInOwl:hasExactSynonym "neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation" MONDO:0003856 oboInOwl:hasExactSynonym "adult hemangiopericytoma, malignant" MONDO:0003856 oboInOwl:hasExactSynonym "hemangiopericytoma, malignant of adults" MONDO:0003856 oboInOwl:hasExactSynonym "malignant adult hemangiopericytoma" @@ -107979,8 +108478,8 @@ MONDO:0012828 oboInOwl:hasExactSynonym "atrial fibrillation, familial, 7" MONDO:0012828 oboInOwl:hasExactSynonym "atrial fibrillation, familial, type 7" MONDO:0012828 oboInOwl:hasExactSynonym "familial atrial fibrillation caused by mutation in KCNA5" MONDO:0006248 oboInOwl:hasExactSynonym "molar pregnancy" -MONDO:0006248 oboInOwl:hasExactSynonym "hydatid Mole" MONDO:0006248 oboInOwl:hasExactSynonym "hydatidiform mole" +MONDO:0006248 oboInOwl:hasExactSynonym "hydatid Mole" MONDO:0002708 oboInOwl:hasExactSynonym "inflammation of retina" MONDO:0002708 oboInOwl:hasExactSynonym "retina inflammation" MONDO:0009362 oboInOwl:hasExactSynonym "game-Friedman-Paradice syndrome" @@ -108009,6 +108508,7 @@ MONDO:0005028 oboInOwl:hasExactSynonym "adenocarcinoma - esophagus" MONDO:0005028 oboInOwl:hasExactSynonym "esophagus adenocarcinoma" MONDO:0005028 oboInOwl:hasExactSynonym "esophageal adenocarcinoma" MONDO:0005028 oboInOwl:hasExactSynonym "adenocarcinoma of esophagus" +MONDO:0010836 oboInOwl:hasExactSynonym "nanophthalmos-1" MONDO:0010836 oboInOwl:hasExactSynonym "NNO1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010836 oboInOwl:hasExactSynonym "nanophthalmos 1" MONDO:0021192 oboInOwl:hasExactSynonym "tumor of calcareous tooth" @@ -108048,6 +108548,7 @@ MONDO:0004477 oboInOwl:hasExactSynonym "adrenal ganglioneuroblastoma" MONDO:0004477 oboInOwl:hasExactSynonym "adrenal gland ganglioneuroblastoma" MONDO:0004477 oboInOwl:hasExactSynonym "ganglioneuroblastoma (disease) of adrenal gland" MONDO:0004477 oboInOwl:hasExactSynonym "adrenal gland ganglioneuroblastoma (disease)" +MONDO:0044271 oboInOwl:hasExactSynonym "bone mineral density variability 1" MONDO:0014650 oboInOwl:hasExactSynonym "familial temporal lobe epilepsy type 8" MONDO:0014650 oboInOwl:hasExactSynonym "epilepsy, familial temporal lobe, type 8" MONDO:0014650 oboInOwl:hasExactSynonym "ETL8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -108066,8 +108567,8 @@ MONDO:0021454 oboInOwl:hasExactSynonym "benign ocular neoplasm" MONDO:0021454 oboInOwl:hasExactSynonym "benign ocular tumor" MONDO:0021454 oboInOwl:hasExactSynonym "benign eye tumor" MONDO:0021454 oboInOwl:hasExactSynonym "benign eye neoplasm" -MONDO:0021454 oboInOwl:hasExactSynonym "benign neoplasm of the eye" MONDO:0021454 oboInOwl:hasExactSynonym "benign tumor of the eye" +MONDO:0021454 oboInOwl:hasExactSynonym "benign neoplasm of the eye" MONDO:0005198 oboInOwl:hasExactSynonym "VIN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005198 oboInOwl:hasExactSynonym "vulvar intraepithelial tumor" MONDO:0005198 oboInOwl:hasExactSynonym "vulva intraepithelial neoplasia" @@ -108117,6 +108618,7 @@ MONDO:0010765 oboInOwl:hasExactSynonym "pure gonadal dysgenesis 46,XY" MONDO:0100277 oboInOwl:hasExactSynonym "disorder of peroxisomal alpha oxidation" MONDO:0012965 oboInOwl:hasExactSynonym "seizures, benign familial infantile, 4" MONDO:0012965 oboInOwl:hasExactSynonym "BFIS4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011711 oboInOwl:hasExactSynonym "specific language impairment QTL, 2" MONDO:0011711 oboInOwl:hasExactSynonym "specific language impairment 2" MONDO:0011711 oboInOwl:hasExactSynonym "SLI2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014994 oboInOwl:hasExactSynonym "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" @@ -108199,6 +108701,7 @@ MONDO:0019073 oboInOwl:hasExactSynonym "hypotrichosis-lymphedema-telangiectasia- MONDO:0019073 oboInOwl:hasExactSynonym "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome" ECTO:9001935 oboInOwl:hasExactSynonym "exposure to oxidising agent" MONDO:0010292 oboInOwl:hasExactSynonym "Uruguay Faciocardiomusculoskeletal syndrome" +MONDO:0010292 oboInOwl:hasExactSynonym "uruguay faciocardiomusculoskeletal syndrome, X-linked recessive" MONDO:0017755 oboInOwl:hasExactSynonym "disorder of bilirubin metabolism and excretion" MONDO:0017755 oboInOwl:hasExactSynonym "disorder of bilirubin metabolism" MONDO:0017755 oboInOwl:hasExactSynonym "inborn disorder of bilirubin metabolism and excretion" @@ -108300,14 +108803,15 @@ MONDO:0021315 oboInOwl:hasExactSynonym "malignant nasopharynx neoplasm" MONDO:0021315 oboInOwl:hasExactSynonym "malignant nasopharyngeal neoplasm" MONDO:0018242 oboInOwl:hasExactSynonym "autoimmune hypoparathyroidism (disease)" MONDO:0018242 oboInOwl:hasExactSynonym "autoimmune hypoparathyroidism" -MONDO:0005059 oboInOwl:hasExactSynonym "leukemia, malignant" -MONDO:0005059 oboInOwl:hasExactSynonym "blood (leukemia)" MONDO:0005059 oboInOwl:hasExactSynonym "leukemia, disease" -MONDO:0005059 oboInOwl:hasExactSynonym "leukemias, general" +MONDO:0005059 oboInOwl:hasExactSynonym "leukemia (disease)" MONDO:0005059 oboInOwl:hasExactSynonym "leukemias" +MONDO:0005059 oboInOwl:hasExactSynonym "blood (leukemia)" +MONDO:0005059 oboInOwl:hasExactSynonym "leukemia, malignant" MONDO:0005059 oboInOwl:hasExactSynonym "leukemia" -MONDO:0005059 oboInOwl:hasExactSynonym "leukemia (disease)" +MONDO:0005059 oboInOwl:hasExactSynonym "leukemias, general" CL:0000235 oboInOwl:hasExactSynonym "histiocyte" +MONDO:0100221 oboInOwl:hasExactSynonym "ichthyosis , follicular, with atrichia and photophobia syndrome 2" MONDO:0100221 oboInOwl:hasExactSynonym "IFAP SYNDROME 2" MONDO:0100221 oboInOwl:hasExactSynonym "ichthyosis follicularis, atrichia, and photophobia syndrome 2" MONDO:0100221 oboInOwl:hasExactSynonym "IFAP2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -108322,6 +108826,7 @@ MONDO:0005928 oboInOwl:hasExactSynonym "postphlebitic syndrome" MONDO:0005928 oboInOwl:hasExactSynonym "postphlebetic syndrome with inflammation" MONDO:0010767 oboInOwl:hasExactSynonym "spermatogenic failure, Y-linked, 2" MONDO:0010767 oboInOwl:hasExactSynonym "spermatogenic failure, Y-linked, type 2" +MONDO:0010767 oboInOwl:hasExactSynonym "spermatogenic failure, Y-linked, 2, Y-linked" MONDO:0011713 oboInOwl:hasExactSynonym "melanoma-pancreatic cancer syndrome" MONDO:0004351 oboInOwl:hasExactSynonym "primary intraocular lymphoma" MONDO:0004351 oboInOwl:hasExactSynonym "intraocular lymphoma" @@ -108336,12 +108841,18 @@ MONDO:0009837 oboInOwl:hasExactSynonym "papilloma of the choroid plexus" MONDO:0009837 oboInOwl:hasExactSynonym "choroid plexus papilloma, no ICD-O subtype" MONDO:0007750 oboInOwl:hasExactSynonym "hypercholesterolemia, familial" MONDO:0007750 oboInOwl:hasExactSynonym "hypercholesterolemia, familial, 1" +MONDO:0007750 oboInOwl:hasExactSynonym "hypercholesterolemia, familial, due to ldlr defect, modifier of" +MONDO:0007750 oboInOwl:hasExactSynonym "hypercholesterolemia, susceptibility to" MONDO:0007750 oboInOwl:hasExactSynonym "FHCL1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007750 oboInOwl:hasExactSynonym "hypercholesterolemia, familial, modifier of" +MONDO:0007750 oboInOwl:hasExactSynonym "LDL cholesterol level QTL2" MONDO:0007403 oboInOwl:hasExactSynonym "inherited CJD" MONDO:0007403 oboInOwl:hasExactSynonym "hereditary Creutzfeldt Jacob disease" +MONDO:0007403 oboInOwl:hasExactSynonym "Creutzfeldt-Jakob disease, variant, resistance to" MONDO:0012020 oboInOwl:hasExactSynonym "Duplication 22q11.2" MONDO:0012020 oboInOwl:hasExactSynonym "chromosome 22q11.2 microduplication syndrome" MONDO:0012020 oboInOwl:hasExactSynonym "trisomy 22q11.2" +MONDO:0012020 oboInOwl:hasExactSynonym "chromosome 22q11.2 microduplication syndrome, isolated cases" MONDO:0012020 oboInOwl:hasExactSynonym "duplication 22q11.2" MONDO:0012020 oboInOwl:hasExactSynonym "dup(22)(q11)" MONDO:0012020 oboInOwl:hasExactSynonym "22q11.2 microduplication syndrome" @@ -108353,6 +108864,7 @@ MONDO:0003154 oboInOwl:hasExactSynonym "nerve hemangioma" GO:2001233 oboInOwl:hasExactSynonym "regulation of apoptotic signalling pathway" MONDO:0100442 oboInOwl:hasExactSynonym "RP2 retinopathy" MONDO:0011282 oboInOwl:hasExactSynonym "tumor suppressor gene on chromosome 11" +MONDO:0011282 oboInOwl:hasExactSynonym "nonsmall cell lung cancer" MONDO:0011282 oboInOwl:hasExactSynonym "tumor suppressor Gene on chromosome type 11" MONDO:0001162 oboInOwl:hasExactSynonym "impulse-control disorder" MONDO:0001162 oboInOwl:hasExactSynonym "ICD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -108503,19 +109015,19 @@ MONDO:0014466 oboInOwl:hasExactSynonym "Neu-Laxova syndrome caused by mutation i MONDO:0014466 oboInOwl:hasExactSynonym "PSAT1 Neu-Laxova syndrome" MONDO:0016321 oboInOwl:hasExactSynonym "infantile cellular interstitial pneumonitis" MONDO:0016321 oboInOwl:hasExactSynonym "pig" -MONDO:0005411 oboInOwl:hasExactSynonym "malignant tumor of gallbladder" +MONDO:0005411 oboInOwl:hasExactSynonym "malignant neoplasm of gall bladder" +MONDO:0005411 oboInOwl:hasExactSynonym "malignant gall bladder neoplasm" MONDO:0005411 oboInOwl:hasExactSynonym "malignant gallbladder tumor" -MONDO:0005411 oboInOwl:hasExactSynonym "malignant neoplasm of gallbladder" -MONDO:0005411 oboInOwl:hasExactSynonym "malignant gallbladder neoplasm" MONDO:0005411 oboInOwl:hasExactSynonym "malignant tumour of gallbladder" +MONDO:0005411 oboInOwl:hasExactSynonym "malignant neoplasm of the gallbladder" MONDO:0005411 oboInOwl:hasExactSynonym "gall bladder cancer" -MONDO:0005411 oboInOwl:hasExactSynonym "localized malignant gallbladder neoplasm" +MONDO:0005411 oboInOwl:hasExactSynonym "malignant neoplasm of gallbladder" MONDO:0005411 oboInOwl:hasExactSynonym "malignant tumor of the gallbladder" -MONDO:0005411 oboInOwl:hasExactSynonym "malignant neoplasm of the gallbladder" +MONDO:0005411 oboInOwl:hasExactSynonym "localized malignant gallbladder neoplasm" MONDO:0005411 oboInOwl:hasExactSynonym "cancer of gall bladder" -MONDO:0005411 oboInOwl:hasExactSynonym "malignant gall bladder neoplasm" -MONDO:0005411 oboInOwl:hasExactSynonym "malignant neoplasm of gall bladder" +MONDO:0005411 oboInOwl:hasExactSynonym "malignant tumor of gallbladder" MONDO:0005411 oboInOwl:hasExactSynonym "gallbladder Ca" +MONDO:0005411 oboInOwl:hasExactSynonym "malignant gallbladder neoplasm" NCBITaxon:6231 oboInOwl:hasExactSynonym "nematodes" http://purl.obolibrary.org/obo/ncbitaxon#common_name NCBITaxon:6231 oboInOwl:hasExactSynonym "roundworm" http://purl.obolibrary.org/obo/ncbitaxon#common_name NCBITaxon:6231 oboInOwl:hasExactSynonym "nematode" http://purl.obolibrary.org/obo/ncbitaxon#common_name @@ -108555,6 +109067,7 @@ MONDO:0016614 oboInOwl:hasExactSynonym "mild peroxismal disorder due to PEX10 de GO:0072348 oboInOwl:hasExactSynonym "sulfur-containing compound transport" MONDO:0010388 oboInOwl:hasExactSynonym "rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010388 oboInOwl:hasExactSynonym "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked" +MONDO:0010388 oboInOwl:hasExactSynonym "rolandic epilepsy, impaired intellectual development, and speech dyspraxia" MONDO:0020453 oboInOwl:hasExactSynonym "Partial anomalous pulmonary Venous connection" MONDO:0020453 oboInOwl:hasExactSynonym "Partial anomalous pulmonary Venous return" MONDO:0000432 oboInOwl:hasExactSynonym "Immunocytoma, lymphoplasmacytic type" @@ -108579,10 +109092,12 @@ MONDO:0009017 oboInOwl:hasExactSynonym "corneal degeneration, band-shaped sphero MONDO:0008904 oboInOwl:hasExactSynonym "camptomelic syndrome, long-limb type" MONDO:0010114 oboInOwl:hasExactSynonym "thanatophoric dysplasia, Glasgow variant" MONDO:0012567 oboInOwl:hasExactSynonym "autism, susceptibility to, 12" +MONDO:0012567 oboInOwl:hasExactSynonym "autism susceptibility 12" MONDO:0012567 oboInOwl:hasExactSynonym "AUTS12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CL:1001433 oboInOwl:hasExactSynonym "exocrine pancreas cell" ENVO:01000254 oboInOwl:hasExactSynonym "environment" MONDO:0012959 oboInOwl:hasExactSynonym "PSORS11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012959 oboInOwl:hasExactSynonym "psoriasis susceptibility 11" MONDO:0012959 oboInOwl:hasExactSynonym "psoriasis 11, susceptibility to" MONDO:0019262 oboInOwl:hasExactSynonym "Spielmeyer-Vogt disease" MONDO:0019262 oboInOwl:hasExactSynonym "juvenile neuronal ceroid lipofuscinosis" @@ -108623,6 +109138,7 @@ MONDO:0013171 oboInOwl:hasExactSynonym "purine-nucleoside phosphorylase deficien MONDO:0013171 oboInOwl:hasExactSynonym "PNP deficiency" MONDO:0013171 oboInOwl:hasExactSynonym "purine nucleoside phosphorylase deficiency" MONDO:0013171 oboInOwl:hasExactSynonym "deficiency of inosine phosphorylase" +MONDO:0013171 oboInOwl:hasExactSynonym "immunodeficiency due to purine nucleoside phosphorylase deficiency" MONDO:0013171 oboInOwl:hasExactSynonym "PNPase deficiency" MONDO:0020674 oboInOwl:hasExactSynonym "vascular insufficiency" MONDO:0011555 oboInOwl:hasExactSynonym "ATRUS syndrome" @@ -108657,19 +109173,23 @@ MONDO:0005120 oboInOwl:hasExactSynonym "Drosophila C virus caused disease or dis MONDO:0005120 oboInOwl:hasExactSynonym "Drosophila C virus infectious disease" MONDO:0005120 oboInOwl:hasExactSynonym "Drosophila C virus disease or disorder" MONDO:0007963 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, susceptibility to, 1" +MONDO:0007963 oboInOwl:hasExactSynonym "melanoma, malignant, somatic" +MONDO:0007963 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, 1" MONDO:0010796 oboInOwl:hasExactSynonym "Parkinson disease, mitochondrial" ECTO:0000486 oboInOwl:hasExactSynonym "exposure to application" -MONDO:0020173 oboInOwl:hasExactSynonym "skin of eyelid benign neoplasm" MONDO:0019691 oboInOwl:hasExactSynonym "SRP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019691 oboInOwl:hasExactSynonym "short-rib dysplasia (with or without polydactyly)" +MONDO:0020173 oboInOwl:hasExactSynonym "skin of eyelid benign neoplasm" MONDO:0010284 oboInOwl:hasExactSynonym "Armfield X-linked intellectual disability syndrome" MONDO:0010284 oboInOwl:hasExactSynonym "mental retardation syndrome, X-linked, Armfield type" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010284 oboInOwl:hasExactSynonym "mental retardation syndrome, X-linked, armfield type, X-linked recessive" MONDO:0010284 oboInOwl:hasExactSynonym "syndromic X-linked intellectual disability Armfield type" MONDO:0010284 oboInOwl:hasExactSynonym "intellectual disability syndrome, X-linked, Armfield type" MONDO:0010284 oboInOwl:hasExactSynonym "Armfield syndrome" MONDO:0010284 oboInOwl:hasExactSynonym "syndromic X-linked mental retardation Armfield type" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010284 oboInOwl:hasExactSynonym "MRXSA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010284 oboInOwl:hasExactSynonym "X-linked intellectual disability, Armfield type" +MONDO:0010284 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked, syndromic, Armfield type, X-linked recessive" MONDO:0010284 oboInOwl:hasExactSynonym "Armfield X-linked mental retardation syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0024246 oboInOwl:hasExactSynonym "acrosyringeal adenomatosis" MONDO:0024246 oboInOwl:hasExactSynonym "acrosyringeal nevus" @@ -108739,6 +109259,7 @@ MONDO:0008490 oboInOwl:hasExactSynonym "STL3" http://purl.obolibrary.org/obo/mon MONDO:0037748 oboInOwl:hasExactSynonym "hyperlipoproteinemia" MONDO:0007293 oboInOwl:hasExactSynonym "leukocyte adhesion deficiency caused by mutation in ITGB2" MONDO:0007293 oboInOwl:hasExactSynonym "leukocyte adhesion deficiency type I" +MONDO:0007293 oboInOwl:hasExactSynonym "leukocyte adhesion deficiency" MONDO:0007293 oboInOwl:hasExactSynonym "LFA1 immunodeficiency" MONDO:0007293 oboInOwl:hasExactSynonym "leukocyte adhesion deficiency 1" MONDO:0007293 oboInOwl:hasExactSynonym "LAD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -108851,12 +109372,14 @@ MONDO:0003350 oboInOwl:hasExactSynonym "granular cell leiomyosarcoma" GO:0051155 oboInOwl:hasExactSynonym "up regulation of striated muscle cell differentiation" GO:0051155 oboInOwl:hasExactSynonym "up-regulation of striated muscle cell differentiation" GO:0051155 oboInOwl:hasExactSynonym "upregulation of striated muscle cell differentiation" +MONDO:0018945 oboInOwl:hasExactSynonym "mcleod syndrome with or without chronic granulomatous disease" MONDO:0018945 oboInOwl:hasExactSynonym "MLS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018945 oboInOwl:hasExactSynonym "McLeod syndrome" MONDO:0018945 oboInOwl:hasExactSynonym "X-linked McLeod syndrome" MONDO:0013032 oboInOwl:hasExactSynonym "generalised epilepsy caused by mutation in CASR" MONDO:0013032 oboInOwl:hasExactSynonym "CASR generalised epilepsy" MONDO:0013032 oboInOwl:hasExactSynonym "epilepsy, idiopathic generalized, susceptibility to, 8" +MONDO:0013032 oboInOwl:hasExactSynonym "epilepsy idiopathic generalized, susceptibility to, 8" MONDO:0013032 oboInOwl:hasExactSynonym "epilepsy, idiopathic generalized, susceptibility to, type 8" MONDO:0008709 oboInOwl:hasExactSynonym "acrocephalopolydactylous dysplasia" MONDO:0008709 oboInOwl:hasExactSynonym "Elejalde syndrome" @@ -108864,19 +109387,20 @@ MONDO:0011720 oboInOwl:hasExactSynonym "azoospermia caused by mutation in SLC26A MONDO:0011720 oboInOwl:hasExactSynonym "spermatogenic failure 3" MONDO:0011720 oboInOwl:hasExactSynonym "spermatogenic failure type 3" MONDO:0011720 oboInOwl:hasExactSynonym "SLC26A8 azoospermia" +MONDO:0000914 oboInOwl:hasExactSynonym "CADASIL 1" +MONDO:0000914 oboInOwl:hasExactSynonym "hereditary multi-infarct dementia" +MONDO:0000914 oboInOwl:hasExactSynonym "dementia, hereditary multi-infarct type" +MONDO:0000914 oboInOwl:hasExactSynonym "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1" +MONDO:0000914 oboInOwl:hasExactSynonym "CADASIL syndrome" +MONDO:0000914 oboInOwl:hasExactSynonym "CADASIL1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0000914 oboInOwl:hasExactSynonym "CADASIL type 1" +MONDO:0000914 oboInOwl:hasExactSynonym "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1" +MONDO:0000914 oboInOwl:hasExactSynonym "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1" MONDO:0014872 oboInOwl:hasExactSynonym "CSNB1H" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014872 oboInOwl:hasExactSynonym "congenital stationary night blindness type 1H" MONDO:0014872 oboInOwl:hasExactSynonym "night blindness, congenital stationary, type 1H" MONDO:0014872 oboInOwl:hasExactSynonym "GNB3 congenital stationary night blindness" MONDO:0014872 oboInOwl:hasExactSynonym "congenital stationary night blindness caused by mutation in GNB3" -MONDO:0000914 oboInOwl:hasExactSynonym "CADASIL syndrome" -MONDO:0000914 oboInOwl:hasExactSynonym "hereditary multi-infarct dementia" -MONDO:0000914 oboInOwl:hasExactSynonym "dementia, hereditary multi-infarct type" -MONDO:0000914 oboInOwl:hasExactSynonym "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1" -MONDO:0000914 oboInOwl:hasExactSynonym "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1" -MONDO:0000914 oboInOwl:hasExactSynonym "CADASIL type 1" -MONDO:0000914 oboInOwl:hasExactSynonym "CADASIL1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0000914 oboInOwl:hasExactSynonym "CADASIL 1" MONDO:0004382 oboInOwl:hasExactSynonym "larynx disease" MONDO:0004382 oboInOwl:hasExactSynonym "disorder of larynx" MONDO:0004382 oboInOwl:hasExactSynonym "laryngeal disease" @@ -108918,6 +109442,8 @@ MONDO:0009363 oboInOwl:hasExactSynonym "Daish-Hardman-Lamont syndrome" MONDO:0003478 oboInOwl:hasExactSynonym "childhood ependymoma" MONDO:0003478 oboInOwl:hasExactSynonym "ependymoma of childhood" MONDO:0003478 oboInOwl:hasExactSynonym "pediatric ependymoma" +MONDO:0020666 oboInOwl:hasExactSynonym "Löfgrens syndrome" +MONDO:0020666 oboInOwl:hasExactSynonym "Loefgrens syndrome" MONDO:0021370 oboInOwl:hasExactSynonym "neoplasm of minor salivary gland" MONDO:0021370 oboInOwl:hasExactSynonym "minor salivary gland neoplasm (disease)" MONDO:0021370 oboInOwl:hasExactSynonym "minor salivary gland neoplasm" @@ -108925,16 +109451,15 @@ MONDO:0021370 oboInOwl:hasExactSynonym "tumor of minor salivary gland" MONDO:0021370 oboInOwl:hasExactSynonym "tumor of the minor salivary gland" MONDO:0021370 oboInOwl:hasExactSynonym "neoplasm of the minor salivary gland" MONDO:0021370 oboInOwl:hasExactSynonym "minor salivary gland tumor" -MONDO:0020666 oboInOwl:hasExactSynonym "Löfgrens syndrome" -MONDO:0020666 oboInOwl:hasExactSynonym "Loefgrens syndrome" MONDO:0021747 oboInOwl:hasExactSynonym "Acanthamoeba infection" MONDO:0021747 oboInOwl:hasExactSynonym "infection by Acanthamoeba" +MONDO:0011890 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 1D" +MONDO:0011890 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 1D" +MONDO:0011890 oboInOwl:hasExactSynonym "CMT1D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011890 oboInOwl:hasExactSynonym "EGR2 Charcot-Marie-Tooth disease type 1" MONDO:0011890 oboInOwl:hasExactSynonym "HMSN1D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011890 oboInOwl:hasExactSynonym "HMSN ID" MONDO:0011890 oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy 1D" -MONDO:0011890 oboInOwl:hasExactSynonym "CMT1D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011890 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 1D" -MONDO:0011890 oboInOwl:hasExactSynonym "EGR2 Charcot-Marie-Tooth disease type 1" MONDO:0011890 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2" MONDO:0006854 oboInOwl:hasExactSynonym "mesenchymoma" MONDO:0007800 oboInOwl:hasExactSynonym "chromosome 18p deletion" @@ -108973,14 +109498,16 @@ MONDO:0002642 oboInOwl:hasExactSynonym "neoplasm of trochlear nerve" MONDO:0002642 oboInOwl:hasExactSynonym "neoplasm of fourth cranial nerve" MONDO:0002642 oboInOwl:hasExactSynonym "IVth cranial nerve tumors" MONDO:0002642 oboInOwl:hasExactSynonym "fourth cranial nerve neoplasms" +MONDO:0014026 oboInOwl:hasExactSynonym "congenital stationary night blindness 1F autosomal recessive" MONDO:0014026 oboInOwl:hasExactSynonym "congenital stationary night blindness caused by mutation in LRIT3" MONDO:0014026 oboInOwl:hasExactSynonym "LRIT3 congenital stationary night blindness" +MONDO:0014026 oboInOwl:hasExactSynonym "night blindness, congenital stationary (complete), 1F, autosomal recessive" MONDO:0014026 oboInOwl:hasExactSynonym "congenital stationary night blindness type 1F" MONDO:0014026 oboInOwl:hasExactSynonym "CSNB1F" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014026 oboInOwl:hasExactSynonym "congenital stationary night blindness 1F autosomal recessive" MONDO:0012829 oboInOwl:hasExactSynonym "IBD12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012829 oboInOwl:hasExactSynonym "inflammatory bowel disease type 12" MONDO:0012829 oboInOwl:hasExactSynonym "inflammatory bowel disease 12" +MONDO:0032798 oboInOwl:hasExactSynonym "ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies" MONDO:0012710 oboInOwl:hasExactSynonym "HSCR9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008983 oboInOwl:hasExactSynonym "chromosomal instability with tissue-specific radiosensitivity" MONDO:0009625 oboInOwl:hasExactSynonym "DMJDS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -109009,12 +109536,20 @@ MONDO:0021193 oboInOwl:hasExactSynonym "neuroepithelial neoplasm" MONDO:0021193 oboInOwl:hasExactSynonym "neuroepithelial neoplasms" MONDO:0021193 oboInOwl:hasExactSynonym "neuroepithelial tumor" MONDO:0021193 oboInOwl:hasExactSynonym "tumor of neuroepithelial tissue" +MONDO:0016419 oboInOwl:hasExactSynonym "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation" +MONDO:0016419 oboInOwl:hasExactSynonym "breast cancer, invasive ductal, autosomal dominant, somatic mutation" MONDO:0016419 oboInOwl:hasExactSynonym "hereditary breast cancer" +MONDO:0016419 oboInOwl:hasExactSynonym "breast cancer, susceptibility to, autosomal dominant, somatic mutation" +MONDO:0016419 oboInOwl:hasExactSynonym "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation" MONDO:0016419 oboInOwl:hasExactSynonym "hereditary breast carcinoma" +MONDO:0016419 oboInOwl:hasExactSynonym "breast cancer, protection against, autosomal dominant, somatic mutation" MONDO:0016419 oboInOwl:hasExactSynonym "familial cancer of breast" MONDO:0016419 oboInOwl:hasExactSynonym "familial breast carcinoma" +MONDO:0016419 oboInOwl:hasExactSynonym "breast cancer, lobular, somatic" MONDO:0016419 oboInOwl:hasExactSynonym "familial breast cancer" MONDO:0016419 oboInOwl:hasExactSynonym "familial cancer of the breast" +MONDO:0016419 oboInOwl:hasExactSynonym "breast cancer susceptibility, autosomal dominant, somatic mutation" +MONDO:0016419 oboInOwl:hasExactSynonym "breast cancer, somatic" MONDO:0008040 oboInOwl:hasExactSynonym "TAM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008040 oboInOwl:hasExactSynonym "transient leurkemia of Down syndrome" MONDO:0008040 oboInOwl:hasExactSynonym "MST" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -109025,6 +109560,7 @@ MONDO:0008040 oboInOwl:hasExactSynonym "transient leukemia" MONDO:0008040 oboInOwl:hasExactSynonym "transient abnormal myelopoiesis" MONDO:0008040 oboInOwl:hasExactSynonym "Transient abnormal myelopoiesis associated with Down syndrome" MONDO:0008040 oboInOwl:hasExactSynonym "TMD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008040 oboInOwl:hasExactSynonym "leukemia, transient, of Down syndrome" MONDO:0008040 oboInOwl:hasExactSynonym "transient myeloproliferative disorder" MONDO:0019776 oboInOwl:hasExactSynonym "juberg Marsidi syndrome" PO:0009046 oboInOwl:hasExactSynonym "flor (Spanish, exact)" @@ -109106,9 +109642,11 @@ MONDO:0001475 oboInOwl:hasExactSynonym "neutropenia" MONDO:0011525 oboInOwl:hasExactSynonym "Carney Myxoma-endocrine Complex, type 2" MONDO:0011525 oboInOwl:hasExactSynonym "Carney complex, type 2" MONDO:0011525 oboInOwl:hasExactSynonym "CNC2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011525 oboInOwl:hasExactSynonym "Carney complex, type II" HP:0033095 oboInOwl:hasExactSynonym "Increased sulphur amino acid level in urine" http://purl.obolibrary.org/obo/hp.obo#uk_spelling HP:0033095 oboInOwl:hasExactSynonym "Increased sulfur-containing amino acid level in urine" MONDO:0010310 oboInOwl:hasExactSynonym "hyperostosis generalisata with striations" +MONDO:0010310 oboInOwl:hasExactSynonym "Osteopathia striata with cranial sclerosis, X-linked dominant" MONDO:0010310 oboInOwl:hasExactSynonym "osteopathia striata with cranial sclerosis" MONDO:0010310 oboInOwl:hasExactSynonym "Robinow-Unger syndrome" MONDO:0041775 oboInOwl:hasExactSynonym "intraoperative floppy iris syndrome" @@ -109141,6 +109679,7 @@ MONDO:0100278 oboInOwl:hasExactSynonym "AGXT defect" MONDO:0100278 oboInOwl:hasExactSynonym "AGXT deficiency" MONDO:0100278 oboInOwl:hasExactSynonym "alanine glyoxylate aminotransferase deficiency" MONDO:0012966 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility to, 4" +MONDO:0012966 oboInOwl:hasExactSynonym "microvascular complications of diabetes 4" MONDO:0012966 oboInOwl:hasExactSynonym "IL1RN microvascular complications of diabetes, susceptibility" MONDO:0012966 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility caused by mutation in IL1RN" MONDO:0012966 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility to, type 4" @@ -109153,6 +109692,7 @@ MONDO:0014995 oboInOwl:hasExactSynonym "neurodevelopmental disorder with hypoton MONDO:0014995 oboInOwl:hasExactSynonym "NDHSAL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020715 oboInOwl:hasExactSynonym "MSA1, susceptibility to" MONDO:0020715 oboInOwl:hasExactSynonym "multiple system atrophy 1, susceptibility to" +MONDO:0020715 oboInOwl:hasExactSynonym "multiple system atrophy, susceptibility to" MONDO:0020715 oboInOwl:hasExactSynonym "MSA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016693 oboInOwl:hasExactSynonym "SEGA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016693 oboInOwl:hasExactSynonym "subependymal giant cell astrocytic neoplasm" @@ -109182,6 +109722,7 @@ MONDO:0007605 oboInOwl:hasExactSynonym "fibrinolytic defect" MONDO:0010837 oboInOwl:hasExactSynonym "primary hyperparathyroidism (disease)" MONDO:0010837 oboInOwl:hasExactSynonym "primary hyperparathyroidism" MONDO:0013874 oboInOwl:hasExactSynonym "glucocorticoid deficiency 4" +MONDO:0013874 oboInOwl:hasExactSynonym "glucocorticoid deficiency 4, with or without mineralocorticoid deficiency" MONDO:0013874 oboInOwl:hasExactSynonym "NNT familial glucocorticoid deficiency" MONDO:0013874 oboInOwl:hasExactSynonym "familial glucocorticoid deficiency caused by mutation in NNT" MONDO:0013874 oboInOwl:hasExactSynonym "glucocorticoid deficiency type 4" @@ -109214,6 +109755,7 @@ MONDO:0016608 oboInOwl:hasExactSynonym "macroencephaly" MONDO:0016608 oboInOwl:hasExactSynonym "megalencephaly (disease)" HP:0001022 oboInOwl:hasExactSynonym "Achromasia" HP:0001022 oboInOwl:hasExactSynonym "Albinism" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0044272 oboInOwl:hasExactSynonym "obesity, severe, susceptibility to, BMIQ9" MONDO:0005929 oboInOwl:hasExactSynonym "major depressive episode with peripartum onset" MONDO:0005929 oboInOwl:hasExactSynonym "postpartum depression" MONDO:0005929 oboInOwl:hasExactSynonym "postnatal depression" @@ -109265,11 +109807,13 @@ MONDO:0019440 oboInOwl:hasExactSynonym "dialysis-related amyloidosis" MONDO:0019440 oboInOwl:hasExactSynonym "ABeta2Mwt amyloidosis" MONDO:0019440 oboInOwl:hasExactSynonym "dialysis-related arthropathy" GO:0035637 oboInOwl:hasExactSynonym "multicellular organismal signalling" +MONDO:0008178 oboInOwl:hasExactSynonym "inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1" MONDO:0008178 oboInOwl:hasExactSynonym "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1" MONDO:0011527 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 4E" MONDO:0011527 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 4E" MONDO:0011527 oboInOwl:hasExactSynonym "autosomal recessive congenital hypomyelinating neuropathy" MONDO:0011527 oboInOwl:hasExactSynonym "neuropathy, congenital hypomyelinating, 1" +MONDO:0011527 oboInOwl:hasExactSynonym "hypomyelinating neuropathy, congenital, 1" MONDO:0011527 oboInOwl:hasExactSynonym "autosomal recessive congenital hypomyelinating or amyelinating neuropathy" MONDO:0011527 oboInOwl:hasExactSynonym "CMT4E" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:22693 oboInOwl:hasExactSynonym "barbiturates" @@ -109285,6 +109829,7 @@ MONDO:0014677 oboInOwl:hasExactSynonym "ATF6 achromatopsia" MONDO:0014677 oboInOwl:hasExactSynonym "achromatopsia type 7" MONDO:0012099 oboInOwl:hasExactSynonym "ATIC deficiency" MONDO:0012099 oboInOwl:hasExactSynonym "5-amino-4-imidazole carboxamide ribosiduria" +MONDO:0012099 oboInOwl:hasExactSynonym "AICA-ribosiduria due to ATIC deficiency" MONDO:0018501 oboInOwl:hasExactSynonym "rare gastric carcinoma" MONDO:0018501 oboInOwl:hasExactSynonym "rare stomach carcinoma" MONDO:0007239 oboInOwl:hasExactSynonym "epidermolytic palmoplantar hyperkeratosis" @@ -109302,8 +109847,10 @@ MONDO:0016285 oboInOwl:hasExactSynonym "uterine cervix papillary carcinoma" MONDO:0010768 oboInOwl:hasExactSynonym "gonad blastoma" MONDO:0010768 oboInOwl:hasExactSynonym "gonadoblastoma" MONDO:0012968 oboInOwl:hasExactSynonym "Usher syndrome type IH" +MONDO:0012968 oboInOwl:hasExactSynonym "Usher syndrome, type 1H" MONDO:0012968 oboInOwl:hasExactSynonym "USH1H" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011714 oboInOwl:hasExactSynonym "partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome" +MONDO:0011714 oboInOwl:hasExactSynonym "lipodystrophy, familial partial, type 7" MONDO:0004352 oboInOwl:hasExactSynonym "brain ependymoma" MONDO:0004352 oboInOwl:hasExactSynonym "adult brain ependymoma" MONDO:0015070 oboInOwl:hasExactSynonym "neuroendocrine neoplasm of larynx" @@ -109374,6 +109921,7 @@ MONDO:0003342 oboInOwl:hasExactSynonym "benign pericytic neoplasm" MONDO:0003342 oboInOwl:hasExactSynonym "benign Pericytic tumor" MONDO:0003342 oboInOwl:hasExactSynonym "benign Pericytic neoplasm" MONDO:0003342 oboInOwl:hasExactSynonym "pericytic neoplasm, benign" +MONDO:0013548 oboInOwl:hasExactSynonym "ACAT2 deficiency, Isolated cases" MONDO:0013548 oboInOwl:hasExactSynonym "acetyl-CoA acetyltransferase-2 deficiency" CHEBI:50315 oboInOwl:hasExactSynonym "chloronium" CHEBI:50315 oboInOwl:hasExactSynonym "chloranium" @@ -109416,10 +109964,6 @@ MONDO:0010293 oboInOwl:hasExactSynonym "hypohidrotic ectodermal dysplasia with i MONDO:0005980 oboInOwl:hasExactSynonym "Ixodoidea infectious disease" MONDO:0005980 oboInOwl:hasExactSynonym "Ixodoidea caused disease or disorder" MONDO:0005980 oboInOwl:hasExactSynonym "Ixodoidea disease or disorder" -MONDO:0014152 oboInOwl:hasExactSynonym "left ventricular noncompaction 8" -MONDO:0014152 oboInOwl:hasExactSynonym "familial isolated dilated cardiomyopathy caused by mutation in PRDM16" -MONDO:0014152 oboInOwl:hasExactSynonym "PRDM16 familial isolated dilated cardiomyopathy" -MONDO:0014152 oboInOwl:hasExactSynonym "left ventricular noncompaction type 8" MONDO:0012789 oboInOwl:hasExactSynonym "DYT16" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012789 oboInOwl:hasExactSynonym "early-onset dystonia parkinsonism" MONDO:0012789 oboInOwl:hasExactSynonym "dystonia 16" @@ -109427,6 +109971,10 @@ MONDO:0012789 oboInOwl:hasExactSynonym "dystonia type 16" MONDO:0012789 oboInOwl:hasExactSynonym "PRKRA dystonic disorder" MONDO:0012789 oboInOwl:hasExactSynonym "dystonic disorder caused by mutation in PRKRA" MONDO:0012789 oboInOwl:hasExactSynonym "DYT-PRKRA" +MONDO:0014152 oboInOwl:hasExactSynonym "left ventricular noncompaction 8" +MONDO:0014152 oboInOwl:hasExactSynonym "familial isolated dilated cardiomyopathy caused by mutation in PRDM16" +MONDO:0014152 oboInOwl:hasExactSynonym "PRDM16 familial isolated dilated cardiomyopathy" +MONDO:0014152 oboInOwl:hasExactSynonym "left ventricular noncompaction type 8" MONDO:0013735 oboInOwl:hasExactSynonym "microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome" MONDO:0009168 oboInOwl:hasExactSynonym "cerebral proliferative glomeruloid vasculopathy" MONDO:0009168 oboInOwl:hasExactSynonym "Fowler syndrome" @@ -109448,6 +109996,7 @@ MONDO:0003888 oboInOwl:hasExactSynonym "childhood testicular mixed embryonal car MONDO:0003888 oboInOwl:hasExactSynonym "pediatric testicular teratocarcinoma" MONDO:0020707 oboInOwl:hasExactSynonym "central hearing loss" MONDO:0013393 oboInOwl:hasExactSynonym "distal monosomy 7q11.23" +MONDO:0013393 oboInOwl:hasExactSynonym "chromosome 7q11.23 deletion syndrome, distal, 1.2mb" MONDO:0013393 oboInOwl:hasExactSynonym "distal del(7)(q11.23)" MONDO:0003400 oboInOwl:hasExactSynonym "pediatric yolk Sac tumor" MONDO:0003400 oboInOwl:hasExactSynonym "childhood endodermal sinus neoplasm" @@ -109515,6 +110064,7 @@ MONDO:0016322 oboInOwl:hasExactSynonym "CTI" MONDO:0016322 oboInOwl:hasExactSynonym "NCHI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011283 oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome 1" MONDO:0011283 oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome type 1" +MONDO:0030947 oboInOwl:hasExactSynonym "neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities" MONDO:0030947 oboInOwl:hasExactSynonym "CONRIBA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018087 oboInOwl:hasExactSynonym "VHF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018087 oboInOwl:hasExactSynonym "viral haemorrhagic fever" @@ -109540,10 +110090,6 @@ MONDO:0004517 oboInOwl:hasExactSynonym "tuberculosis of ureter" MONDO:0004517 oboInOwl:hasExactSynonym "ureter tuberculosis" MONDO:0012685 oboInOwl:hasExactSynonym "major affective disorder 5" MONDO:0012685 oboInOwl:hasExactSynonym "MAFD5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016962 oboInOwl:hasExactSynonym "partial trisomy of the long arm of chromosome 11" -MONDO:0016962 oboInOwl:hasExactSynonym "partial duplication of the long arm of chromosome type 11" -MONDO:0016962 oboInOwl:hasExactSynonym "partial duplication of chromosome 11q" -MONDO:0016962 oboInOwl:hasExactSynonym "partial trisomy of chromosome 11q" MONDO:0017054 oboInOwl:hasExactSynonym "thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency" MONDO:0017054 oboInOwl:hasExactSynonym "thiamine-responsive MSUD" MONDO:0017054 oboInOwl:hasExactSynonym "thiamine-responsive maple syrup urine disease" @@ -109610,6 +110156,7 @@ MONDO:0000620 oboInOwl:hasExactSynonym "breast benign neoplasm" MONDO:0000620 oboInOwl:hasExactSynonym "benign tumor of breast" MONDO:0000620 oboInOwl:hasExactSynonym "benign neoplasm of the breast" MONDO:0007777 oboInOwl:hasExactSynonym "hypertaurinuric cardiomyopathy" +MONDO:0007777 oboInOwl:hasExactSynonym "hypotaurinemic retinal degeneration and cardiomyopathy" MONDO:0011779 oboInOwl:hasExactSynonym "laryngeal atresia, encephalocele, and limb deformities" MONDO:0009680 oboInOwl:hasExactSynonym "Bassoe syndrome" MONDO:0044701 oboInOwl:hasExactSynonym "UBTF-related disorder" @@ -109618,6 +110165,7 @@ CHEBI:33662 oboInOwl:hasExactSynonym "annulenes" CHEBI:33662 oboInOwl:hasExactSynonym "annulene" MONDO:0020675 oboInOwl:hasExactSynonym "ischemic bowel disease" MONDO:0011556 oboInOwl:hasExactSynonym "basal cell carcinoma, susceptibility to, 1" +MONDO:0011556 oboInOwl:hasExactSynonym "basal cell carcinoma, somatic" MONDO:0011556 oboInOwl:hasExactSynonym "BCC1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:1902533 oboInOwl:hasExactSynonym "up regulation of intracellular signal transduction" GO:1902533 oboInOwl:hasExactSynonym "upregulation of intracellular signaling chain" @@ -109634,6 +110182,7 @@ GO:0008652 oboInOwl:hasExactSynonym "cellular amino acid formation" PATO:0001566 oboInOwl:hasExactSynonym "scattered" PATO:0001566 oboInOwl:hasExactSynonym "diffuse" MONDO:0020820 oboInOwl:hasExactSynonym "DA2B1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020820 oboInOwl:hasExactSynonym "arthrogryposis, distal, type 2B1" MONDO:0024562 oboInOwl:hasExactSynonym "sick sinus syndrome 1" MONDO:0024562 oboInOwl:hasExactSynonym "sick sinus syndrome caused by mutation in SCN5A" MONDO:0024562 oboInOwl:hasExactSynonym "SCN5A sick sinus syndrome" @@ -109648,6 +110197,7 @@ MONDO:0012277 oboInOwl:hasExactSynonym "zaspopathy" MONDO:0012277 oboInOwl:hasExactSynonym "ZASP-related myofibrillar myopathy" MONDO:0012277 oboInOwl:hasExactSynonym "LDB3 myofibrillar myopathy (disease)" MONDO:0007964 oboInOwl:hasExactSynonym "B-K Mole syndrome" +MONDO:0007964 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, 2" MONDO:0007964 oboInOwl:hasExactSynonym "familial dysplastic nevi" MONDO:0007964 oboInOwl:hasExactSynonym "dysplastic nevus syndrome" MONDO:0007964 oboInOwl:hasExactSynonym "Atypical Mole syndrome" @@ -109714,6 +110264,7 @@ MONDO:0002864 oboInOwl:hasExactSynonym "rhabdomyosarcoma (disease) of anus" MONDO:0002864 oboInOwl:hasExactSynonym "anal rhabdomyosarcoma" MONDO:0002864 oboInOwl:hasExactSynonym "anus rhabdomyosarcoma (disease)" MONDO:0021651 oboInOwl:hasExactSynonym "synpolydactyly" +MONDO:0021651 oboInOwl:hasExactSynonym "syndactyly type 2" MONDO:0021651 oboInOwl:hasExactSynonym "polysyndactyly" MONDO:0009112 oboInOwl:hasExactSynonym "Glyceronephosphate O-acyltransferase deficiency" MONDO:0009112 oboInOwl:hasExactSynonym "Dihydroxyacetonephosphate acyltransferase deficiency" @@ -109731,6 +110282,7 @@ MONDO:0016615 oboInOwl:hasExactSynonym "oligoarticular JIA with anti-nuclear ant MONDO:0016615 oboInOwl:hasExactSynonym "pauciarticular chronic arthritis with anti-nuclear antibodies" MONDO:0010389 oboInOwl:hasExactSynonym "CYBB X-linked mendelian susceptibility to mycobacterial diseases" MONDO:0010389 oboInOwl:hasExactSynonym "immunodeficiency type 34" +MONDO:0010389 oboInOwl:hasExactSynonym "immunodeficiency 34, mycobacteriosis, X-linked, X-linked recessive" MONDO:0010389 oboInOwl:hasExactSynonym "X-linked MSMD due to CYBB deficiency" MONDO:0010389 oboInOwl:hasExactSynonym "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB" GO:0050778 oboInOwl:hasExactSynonym "upregulation of immune response" @@ -109753,6 +110305,7 @@ MONDO:0011088 oboInOwl:hasExactSynonym "congenital myasthenic syndrome type 1A" MONDO:0011088 oboInOwl:hasExactSynonym "CMS1A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011088 oboInOwl:hasExactSynonym "CMS IIa" MONDO:0011088 oboInOwl:hasExactSynonym "CHRNA1 congenital myasthenic syndrome" +MONDO:0008374 oboInOwl:hasExactSynonym "retinal cone dystrophy-1" MONDO:0019503 oboInOwl:hasExactSynonym "familial ocular anterior segment mesenchymal dysgenesis" MONDO:0019503 oboInOwl:hasExactSynonym "ASGD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019503 oboInOwl:hasExactSynonym "anterior segment mesenchymal dysgenesis" @@ -109845,6 +110398,7 @@ CHEBI:16646 oboInOwl:hasExactSynonym "carbohydrates" CHEBI:16646 oboInOwl:hasExactSynonym "carbohydrate" MONDO:0015773 oboInOwl:hasExactSynonym "leg duplication-mirror foot syndrome" MONDO:0003858 oboInOwl:hasExactSynonym "anterior visual pathway meningioma" +MONDO:0010450 oboInOwl:hasExactSynonym "mental retardation, X-linked 89, X-linked dominant" MONDO:0010450 oboInOwl:hasExactSynonym "MRX89" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010450 oboInOwl:hasExactSynonym "intellectual disability, X-linked 89" MONDO:0005414 oboInOwl:hasExactSynonym "treatment-refractory schizophrenia" @@ -109866,20 +110420,20 @@ MONDO:0009364 oboInOwl:hasExactSynonym "muscular dystrophy-dystroglycanopathy (c MONDO:0017139 oboInOwl:hasExactSynonym "Oroacral syndrome" NCBITaxon:11157 oboInOwl:hasExactSynonym "negative-sense genome single-stranded RNA viruses" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name MONDO:0014183 oboInOwl:hasExactSynonym "myopia 23, autosomal recessive" +MONDO:0010671 oboInOwl:hasExactSynonym "microphthalmia, syndromic 1" +MONDO:0010671 oboInOwl:hasExactSynonym "MCOPS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010671 oboInOwl:hasExactSynonym "Lenz dysplasia" +MONDO:0010671 oboInOwl:hasExactSynonym "MCOPS4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010671 oboInOwl:hasExactSynonym "microphthalmia syndromic 4" -MONDO:0010671 oboInOwl:hasExactSynonym "MAA, formerly" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010671 oboInOwl:hasExactSynonym "MCOPS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010671 oboInOwl:hasExactSynonym "microphthalmia, syndromic 1" MONDO:0010671 oboInOwl:hasExactSynonym "microphthalmia with ankyloblepharon and intellectual disability" -MONDO:0010671 oboInOwl:hasExactSynonym "microphthalmia, syndromic type 1" MONDO:0010671 oboInOwl:hasExactSynonym "MCOPS4, formerly" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010671 oboInOwl:hasExactSynonym "MAA, formerly" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010671 oboInOwl:hasExactSynonym "microphthalmia with ankyloblepharon and mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED -MONDO:0010671 oboInOwl:hasExactSynonym "microphthalmia, syndromic 4, formerly" +MONDO:0010671 oboInOwl:hasExactSynonym "Lenz microphthalmia syndrome" MONDO:0010671 oboInOwl:hasExactSynonym "ANOP1, formerly" +MONDO:0010671 oboInOwl:hasExactSynonym "microphthalmia, syndromic type 1" MONDO:0010671 oboInOwl:hasExactSynonym "syndromic microphthalmia type 4" -MONDO:0010671 oboInOwl:hasExactSynonym "MCOPS4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010671 oboInOwl:hasExactSynonym "Lenz microphthalmia syndrome" +MONDO:0010671 oboInOwl:hasExactSynonym "microphthalmia, syndromic 4, formerly" MONDO:0001308 oboInOwl:hasExactSynonym "deposits - cornea" GO:1900451 oboInOwl:hasExactSynonym "up-regulation of glutamate signalling pathway" GO:1900451 oboInOwl:hasExactSynonym "upregulation of glutamate signalling pathway" @@ -109966,11 +110520,13 @@ MONDO:0009847 oboInOwl:hasExactSynonym "pericardial effusion (disease), chronic" MONDO:0009847 oboInOwl:hasExactSynonym "chronic pericardial effusion (disease)" MONDO:0100151 oboInOwl:hasExactSynonym "CTNS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100151 oboInOwl:hasExactSynonym "Abderhalden-Lignac-Kaufmann disease" +MONDO:0100151 oboInOwl:hasExactSynonym "cystinosis, atypical nephropathic" MONDO:0100151 oboInOwl:hasExactSynonym "Abderhalden Kaufmann Lignac syndrome" MONDO:0100151 oboInOwl:hasExactSynonym "Abderhalden Lignac Kaufmann disease" MONDO:0100151 oboInOwl:hasExactSynonym "Abderhalden-Kaufmann-Lignac syndrome" MONDO:0100151 oboInOwl:hasExactSynonym "cystinosis, nephropathic" MONDO:0014873 oboInOwl:hasExactSynonym "comedo Nevus" +MONDO:0014873 oboInOwl:hasExactSynonym "nevus comedonicus, somatic" MONDO:0014873 oboInOwl:hasExactSynonym "Nevus comedonicus" MONDO:0014873 oboInOwl:hasExactSynonym "pilosebaceous nevoid disorder" MONDO:0014873 oboInOwl:hasExactSynonym "acneiform Nevus" @@ -109986,6 +110542,7 @@ CHEBI:23924 oboInOwl:hasExactSynonym "enzyme inhibitor" MONDO:0021677 oboInOwl:hasExactSynonym "postinfectious neuralgia" MONDO:0010124 oboInOwl:hasExactSynonym "thumb, distal hyperextensibility of" MONDO:0012881 oboInOwl:hasExactSynonym "major affective disorder 7" +MONDO:0012881 oboInOwl:hasExactSynonym "major affective disorder-7, susceptibility to" MONDO:0012881 oboInOwl:hasExactSynonym "major affective disorder type 7" MONDO:0100279 oboInOwl:hasExactSynonym "peroxisome biogenesis disorder due to PEX11B defect" MONDO:0100279 oboInOwl:hasExactSynonym "PEX11B related peroxisome biogenesis disorder" @@ -109997,9 +110554,11 @@ MONDO:0014996 oboInOwl:hasExactSynonym "MRT58" http://purl.obolibrary.org/obo/mo MONDO:0014996 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 58" MONDO:0014996 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 58" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014996 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive 58" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0014996 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 58" MONDO:0014996 oboInOwl:hasExactSynonym "autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2" MONDO:0030883 oboInOwl:hasExactSynonym "carpal tunnel syndrome 2" MONDO:0030883 oboInOwl:hasExactSynonym "CTS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012303 oboInOwl:hasExactSynonym "migraine, susceptibility to, 8" MONDO:0012303 oboInOwl:hasExactSynonym "migraine with or without aura, susceptibility to, type 8" MONDO:0012303 oboInOwl:hasExactSynonym "migraine with or without aura, susceptibility to, 8" MONDO:0018465 oboInOwl:hasExactSynonym "Hirata disease" @@ -110015,6 +110574,7 @@ MONDO:0002246 oboInOwl:hasExactSynonym "perichondritis and chondritis of pinna" GO:0006073 oboInOwl:hasExactSynonym "cellular glucan metabolism" MONDO:0001866 oboInOwl:hasExactSynonym "bipolar I disorder" MONDO:0001866 oboInOwl:hasExactSynonym "bipolar 1 disorder" +MONDO:0010311 oboInOwl:hasExactSynonym "Becker muscular dystrophy, X-linked recessive" MONDO:0010311 oboInOwl:hasExactSynonym "Becker muscular dystrophy" MONDO:0010311 oboInOwl:hasExactSynonym "Becker dystrophinopathy" MONDO:0010311 oboInOwl:hasExactSynonym "benign pseudohypertrophic muscular dystrophy" @@ -110078,6 +110638,7 @@ GO:0034644 oboInOwl:hasExactSynonym "cellular response to UV radiation stimulus" GO:0034644 oboInOwl:hasExactSynonym "cellular response to UV light stimulus" MONDO:0010532 oboInOwl:hasExactSynonym "SMAX2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010532 oboInOwl:hasExactSynonym "spinal muscular atrophy, X-linked type 2" +MONDO:0010532 oboInOwl:hasExactSynonym "spinal muscular atrophy, X-linked 2, infantile, X-linked recessive" MONDO:0010532 oboInOwl:hasExactSynonym "spinal muscular atrophy with arthrogryposis" MONDO:0010532 oboInOwl:hasExactSynonym "X-linked spinal muscular atrophy type 2" MONDO:0010532 oboInOwl:hasExactSynonym "X-linked distal arthrogryposis multiplex congenita" @@ -110100,9 +110661,9 @@ MONDO:0001926 oboInOwl:hasExactSynonym "ureter disease or disorder" MONDO:0001926 oboInOwl:hasExactSynonym "ureteric disease" MONDO:0001926 oboInOwl:hasExactSynonym "ureter disease" MONDO:0001926 oboInOwl:hasExactSynonym "ureter disorder" -MONDO:0008984 oboInOwl:hasExactSynonym "ciliary discoordination due to random ciliary orientation" NCBITaxon:45219 oboInOwl:hasExactSynonym "Guanarito arenavirus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:45219 oboInOwl:hasExactSynonym "Guanarito virus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name +MONDO:0008984 oboInOwl:hasExactSynonym "ciliary discoordination due to random ciliary orientation" HP:0005120 oboInOwl:hasExactSynonym "Abnormality of cardiac atrium morphology" HP:0005120 oboInOwl:hasExactSynonym "Abnormality of heart atrium" http://purl.obolibrary.org/obo/hp.obo#layperson GO:0051100 oboInOwl:hasExactSynonym "down regulation of binding" @@ -110151,12 +110712,14 @@ MONDO:0100129 oboInOwl:hasExactSynonym "intracranial arachnoid cysts" MONDO:0016286 oboInOwl:hasExactSynonym "uterine cervix adenoid cystic carcinoma" GO:2000194 oboInOwl:hasExactSynonym "regulation of ovary development" GO:2000194 oboInOwl:hasExactSynonym "regulation of ovarian development" +MONDO:0010769 oboInOwl:hasExactSynonym "hairy ears, Y-linked, Y-linked" MONDO:0010769 oboInOwl:hasExactSynonym "hairy ears, Y-linked" MONDO:0007490 oboInOwl:hasExactSynonym "Maroteaux-Le Merrer-Bensahel syndrome" MONDO:0012969 oboInOwl:hasExactSynonym "PON1 microvascular complications of diabetes, susceptibility" MONDO:0012969 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility to, type 5" MONDO:0012969 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility to, 5" MONDO:0012969 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility caused by mutation in PON1" +MONDO:0012969 oboInOwl:hasExactSynonym "microvascular complications of diabetes 5" GO:0051094 oboInOwl:hasExactSynonym "up regulation of developmental process" GO:0051094 oboInOwl:hasExactSynonym "upregulation of developmental process" GO:0051094 oboInOwl:hasExactSynonym "up-regulation of developmental process" @@ -110187,18 +110750,20 @@ MONDO:0016473 oboInOwl:hasExactSynonym "rhabdoid predisposition syndrome" MONDO:0016473 oboInOwl:hasExactSynonym "familial posterior fossa brain tumor syndrome of infancy" MONDO:0016473 oboInOwl:hasExactSynonym "RTPS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0008104 oboInOwl:hasExactSynonym "protein localisation" -MONDO:0008437 oboInOwl:hasExactSynonym "strumpell disease" -MONDO:0008437 oboInOwl:hasExactSynonym "autosomal dominant spastic paraplegia type 3" -MONDO:0008437 oboInOwl:hasExactSynonym "autosomal dominant familial spastic paraplegia 1" -MONDO:0008437 oboInOwl:hasExactSynonym "Strümpell disease" +MONDO:0008437 oboInOwl:hasExactSynonym "SPG3A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008437 oboInOwl:hasExactSynonym "FSP1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008437 oboInOwl:hasExactSynonym "spastic Paraplegia 3A" MONDO:0008437 oboInOwl:hasExactSynonym "hereditary spastic paraplegia caused by mutation in ATL1" -MONDO:0008437 oboInOwl:hasExactSynonym "hereditary spastic paraplegia type 3A" MONDO:0008437 oboInOwl:hasExactSynonym "ATL1 hereditary spastic paraplegia" +MONDO:0008437 oboInOwl:hasExactSynonym "spastic paraplegia 3a, autosomal dominant" +MONDO:0008437 oboInOwl:hasExactSynonym "Strümpell disease" +MONDO:0008437 oboInOwl:hasExactSynonym "autosomal dominant familial spastic paraplegia 1" +MONDO:0008437 oboInOwl:hasExactSynonym "hereditary spastic paraplegia type 3A" MONDO:0008437 oboInOwl:hasExactSynonym "autosomal dominant spastic paraplegia 3" -MONDO:0008437 oboInOwl:hasExactSynonym "spastic Paraplegia 3A" -MONDO:0008437 oboInOwl:hasExactSynonym "SPG3A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008437 oboInOwl:hasExactSynonym "autosomal dominant spastic paraplegia type 3" +MONDO:0008437 oboInOwl:hasExactSynonym "strumpell disease" MONDO:0009511 oboInOwl:hasExactSynonym "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" +MONDO:0009511 oboInOwl:hasExactSynonym "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects" MONDO:0014678 oboInOwl:hasExactSynonym "MYT1L autosomal dominant non-syndromic intellectual disability" MONDO:0014678 oboInOwl:hasExactSynonym "autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L" MONDO:0014678 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant type 39" @@ -110206,6 +110771,7 @@ MONDO:0014678 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant t MONDO:0014678 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant 39" MONDO:0014678 oboInOwl:hasExactSynonym "MRD39" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014678 oboInOwl:hasExactSynonym "autosomal dominant intellectual disability 39" +MONDO:0014678 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal dominant 39" MONDO:0014678 oboInOwl:hasExactSynonym "autosomal dominant mental retardation 39" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0018502 oboInOwl:hasExactSynonym "hereditary cancer of stomach" MONDO:0018502 oboInOwl:hasExactSynonym "hereditary gastric cancer" @@ -110230,12 +110796,14 @@ MONDO:0015071 oboInOwl:hasExactSynonym "neuroendocrine neoplasm of middle ear" MONDO:0015071 oboInOwl:hasExactSynonym "middle ear neuroendocrine tumor, well differentiated, low or intermediate grade" MONDO:0015071 oboInOwl:hasExactSynonym "middle ear neuroendocrine tumor" MONDO:0015071 oboInOwl:hasExactSynonym "middle ear NET" +MONDO:0032567 oboInOwl:hasExactSynonym "growth hormone deficiency, isolated, type IV" MONDO:0019662 oboInOwl:hasExactSynonym "short rib-polydactyly syndrome type 2" MONDO:0054764 oboInOwl:hasExactSynonym "neurodegeneration with brain iron accumulation 8" ECTO:0000496 oboInOwl:hasExactSynonym "exposure to alkylating agent" MONDO:0009041 oboInOwl:hasExactSynonym "Baraitser Rodeck garner syndrome" MONDO:0009041 oboInOwl:hasExactSynonym "craniosynostosis-intellectual disability-clefting syndrome" MONDO:0009041 oboInOwl:hasExactSynonym "craniosynostosis-mental retardation-clefting syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0012108 oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type" MONDO:0012108 oboInOwl:hasExactSynonym "SEMD, MATN3-related" MONDO:0012108 oboInOwl:hasExactSynonym "SEMD, matrilin-3 type" MONDO:0014865 oboInOwl:hasExactSynonym "neutropenia, Severe congenital, 7, autosomal recessive" @@ -110250,6 +110818,7 @@ MONDO:0009169 oboInOwl:hasExactSynonym "endocardial fibroelastosis" MONDO:0024627 oboInOwl:hasExactSynonym "phagocytic cell dysfunction" MONDO:0024627 oboInOwl:hasExactSynonym "defective phagocytosis" MONDO:0012518 oboInOwl:hasExactSynonym "congenital myasthenia 12 with tubular aggregates" +MONDO:0012518 oboInOwl:hasExactSynonym "myasthenia, congenital, 12, with tubular aggregates" MONDO:0012518 oboInOwl:hasExactSynonym "congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1" MONDO:0012518 oboInOwl:hasExactSynonym "GFPT1 congenital myasthenic syndromes with glycosylation defect" MONDO:0012518 oboInOwl:hasExactSynonym "CMS12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -110275,26 +110844,28 @@ MONDO:0004668 oboInOwl:hasExactSynonym "Fasciolosis" MONDO:0004668 oboInOwl:hasExactSynonym "fasciola hepatica infection" MONDO:0004668 oboInOwl:hasExactSynonym "liver flukes" CL:0019002 oboInOwl:hasExactSynonym "chondrocyte of tracheobronchial tree" -MONDO:0016520 oboInOwl:hasExactSynonym "nonsyndromic Klippel-Feil syndrome" -MONDO:0016520 oboInOwl:hasExactSynonym "congenital cervical vertebral fusion" -MONDO:0016520 oboInOwl:hasExactSynonym "congenital fused cervical segments" -MONDO:0016520 oboInOwl:hasExactSynonym "Klippel-Feil sequence" -MONDO:0016520 oboInOwl:hasExactSynonym "Klippel-Feil malformation" MONDO:0037255 oboInOwl:hasExactSynonym "serous tumor of the ovary" MONDO:0037255 oboInOwl:hasExactSynonym "serous neoplasm of the ovary" MONDO:0037255 oboInOwl:hasExactSynonym "ovarian serous tumor" MONDO:0037255 oboInOwl:hasExactSynonym "ovarian serous neoplasm" MONDO:0037255 oboInOwl:hasExactSynonym "serous neoplasm of ovary" MONDO:0037255 oboInOwl:hasExactSynonym "serous tumor of ovary" +MONDO:0016520 oboInOwl:hasExactSynonym "nonsyndromic Klippel-Feil syndrome" +MONDO:0016520 oboInOwl:hasExactSynonym "congenital cervical vertebral fusion" +MONDO:0016520 oboInOwl:hasExactSynonym "congenital fused cervical segments" +MONDO:0016520 oboInOwl:hasExactSynonym "Klippel-Feil sequence" +MONDO:0016520 oboInOwl:hasExactSynonym "Klippel-Feil malformation" MONDO:0002448 oboInOwl:hasExactSynonym "laryngeal sarcoma" MONDO:0002448 oboInOwl:hasExactSynonym "larynx sarcoma" MONDO:0002448 oboInOwl:hasExactSynonym "sarcoma of the larynx" MONDO:0002448 oboInOwl:hasExactSynonym "sarcoma of larynx" MONDO:0013959 oboInOwl:hasExactSynonym "CMT4F" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013959 oboInOwl:hasExactSynonym "Prx Charcot-Marie-Tooth disease type 4" +MONDO:0013959 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 4F" MONDO:0013959 oboInOwl:hasExactSynonym "PRX Charcot-Marie-Tooth disease type 4" MONDO:0013959 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 4 caused by mutation in Prx" MONDO:0013959 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 4 caused by mutation in PRX" +MONDO:0010294 oboInOwl:hasExactSynonym "neutropenia, severe congenital, X-linked, X-linked recessive" MONDO:0010294 oboInOwl:hasExactSynonym "severe congenital neutropenia, X-linked" MONDO:0010294 oboInOwl:hasExactSynonym "X-linked severe congenital neutropenia" MONDO:0001361 oboInOwl:hasExactSynonym "visual deprivation nystagmus" @@ -110336,6 +110907,7 @@ MONDO:0013394 oboInOwl:hasExactSynonym "porencephaly-microcephaly-bilateral cong MONDO:0011778 oboInOwl:hasExactSynonym "multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome" HP:0001433 oboInOwl:hasExactSynonym "Enlarged liver and spleen" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0014340 oboInOwl:hasExactSynonym "atrial fibrillation, familial, 15" +MONDO:0014340 oboInOwl:hasExactSynonym "atrial fibrillation 15" MONDO:0014340 oboInOwl:hasExactSynonym "atrial fibrillation, familial, type 15" MONDO:0014340 oboInOwl:hasExactSynonym "NUP155 familial atrial fibrillation" MONDO:0014340 oboInOwl:hasExactSynonym "familial atrial fibrillation caused by mutation in NUP155" @@ -110356,6 +110928,7 @@ GO:1904676 oboInOwl:hasExactSynonym "down regulation of somatic stem cell renewa GO:1904676 oboInOwl:hasExactSynonym "down-regulation of somatic stem cell division" MONDO:0016065 oboInOwl:hasExactSynonym "Mathieu-De Broca-Bony syndrome" MONDO:0010712 oboInOwl:hasExactSynonym "panhypopituitarism, X-linked" +MONDO:0026404 oboInOwl:hasExactSynonym "X-inactivation, familial skewed" MONDO:0026404 oboInOwl:hasExactSynonym "X inactivation, familial skewed, 1" MONDO:0026404 oboInOwl:hasExactSynonym "X-inactivation, familial skewed, 1" MONDO:0019441 oboInOwl:hasExactSynonym "ATTR cardiomyopathy" @@ -110371,6 +110944,7 @@ MONDO:0014468 oboInOwl:hasExactSynonym "congenital myasthenic syndrome 7 presyna MONDO:0014468 oboInOwl:hasExactSynonym "congenital myasthenic syndrome type 7" MONDO:0014468 oboInOwl:hasExactSynonym "congenital myasthenic syndrome caused by mutation in SYT2" MONDO:0014468 oboInOwl:hasExactSynonym "SYT2 congenital myasthenic syndrome" +MONDO:0014468 oboInOwl:hasExactSynonym "myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant" MONDO:0014468 oboInOwl:hasExactSynonym "CMS7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0016861 oboInOwl:hasExactSynonym "intramolecular isomerase activity, interconverting aldoses and ketoses" ECTO:9001640 oboInOwl:hasExactSynonym "exposure to electron donor" @@ -110405,24 +110979,27 @@ GO:1901534 oboInOwl:hasExactSynonym "upregulation of haematopoietic progenitor c GO:1901534 oboInOwl:hasExactSynonym "up-regulation of hemopoietic progenitor cell differentiation" GO:1901534 oboInOwl:hasExactSynonym "activation of haemopoietic progenitor cell differentiation" GO:1901534 oboInOwl:hasExactSynonym "upregulation of haemopoietic progenitor cell differentiation" +GO:1901534 oboInOwl:hasExactSynonym "upregulation of hemopoietic progenitor cell differentiation" GO:1901534 oboInOwl:hasExactSynonym "positive regulation of hemopoietic progenitor cell differentiation" GO:1901534 oboInOwl:hasExactSynonym "up regulation of haematopoietic progenitor cell differentiation" GO:1901534 oboInOwl:hasExactSynonym "positive regulation of haemopoietic progenitor cell differentiation" -GO:1901534 oboInOwl:hasExactSynonym "upregulation of hemopoietic progenitor cell differentiation" +MONDO:0032569 oboInOwl:hasExactSynonym "pituitary hormone deficiency, combined or isolated, 7" MONDO:0009839 oboInOwl:hasExactSynonym "PSP-p" MONDO:0009839 oboInOwl:hasExactSynonym "PSP-parkinsonism" +MONDO:0009839 oboInOwl:hasExactSynonym "supranuclear palsy, progressive atypical" MONDO:0007405 oboInOwl:hasExactSynonym "Crouzon syndrome" MONDO:0007405 oboInOwl:hasExactSynonym "craniofacial dysostosis" MONDO:0007405 oboInOwl:hasExactSynonym "Crouzon craniofacial dysostosis" GO:2001235 oboInOwl:hasExactSynonym "positive regulation of apoptotic signalling pathway" -MONDO:0009019 oboInOwl:hasExactSynonym "CHED" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009019 oboInOwl:hasExactSynonym "infantile hereditary endothelial dystrophy" -MONDO:0009019 oboInOwl:hasExactSynonym "congenital hereditary endothelial dystrophy type 2" MONDO:0009019 oboInOwl:hasExactSynonym "CHEDII" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009019 oboInOwl:hasExactSynonym "autosomal recessive congenital hereditary endothelial dystrophy" +MONDO:0009019 oboInOwl:hasExactSynonym "corneal endothelial dystrophy, autosomal recessive" +MONDO:0009019 oboInOwl:hasExactSynonym "congenital hereditary endothelial dystrophy type 2" MONDO:0009019 oboInOwl:hasExactSynonym "CHED2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009019 oboInOwl:hasExactSynonym "congenital hereditary endothelial dystrophy of cornea" +MONDO:0009019 oboInOwl:hasExactSynonym "autosomal recessive congenital hereditary endothelial dystrophy" MONDO:0009019 oboInOwl:hasExactSynonym "autosomal recessive CHED" +MONDO:0009019 oboInOwl:hasExactSynonym "CHED" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0021279 oboInOwl:hasExactSynonym "submandibular gland mucoepidermoid carcinoma" MONDO:0021279 oboInOwl:hasExactSynonym "mucoepidermoid carcinoma of the submandibular gland" MONDO:0011284 oboInOwl:hasExactSynonym "astigmatism" @@ -110478,11 +111055,12 @@ MONDO:0004518 oboInOwl:hasExactSynonym "anterior urethral cancer" MONDO:0004518 oboInOwl:hasExactSynonym "malignant tumor of anterior urethra" MONDO:0019827 oboInOwl:hasExactSynonym "secondary non-acquired combined pituitary hormone deficiency" MONDO:0009334 oboInOwl:hasExactSynonym "hemolytic anemia with thermal sensitivity of red cells" -MONDO:0020676 oboInOwl:hasExactSynonym "central nervous system or retinal vascular disease" -MONDO:0020676 oboInOwl:hasExactSynonym "retina/CNS vascular disease" CHEBI:33663 oboInOwl:hasExactSynonym "cyclic hydrocarbon" +MONDO:0020676 oboInOwl:hasExactSynonym "retina/CNS vascular disease" +MONDO:0020676 oboInOwl:hasExactSynonym "central nervous system or retinal vascular disease" MONDO:0011557 oboInOwl:hasExactSynonym "radiation sensitivity/chromosome instability syndrome, autosomal dominant" MONDO:0021718 oboInOwl:hasExactSynonym "polyneuritis" +MONDO:0010339 oboInOwl:hasExactSynonym "epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant" MONDO:0010339 oboInOwl:hasExactSynonym "X-linked epilepsy-learning disabilities-behavior disorders syndrome" MONDO:0017055 oboInOwl:hasExactSynonym "MMF embryopathy" MONDO:0004176 oboInOwl:hasExactSynonym "extraosseous osteosarcoma of childhood" @@ -110555,7 +111133,9 @@ MONDO:0012278 oboInOwl:hasExactSynonym "supranuclear palsy, progressive, 2" HP:0033799 oboInOwl:hasExactSynonym "Abnormal circulating sex steroid concentration" HP:0033799 oboInOwl:hasExactSynonym "Abnormal circulating gonadocorticoid concentration" HP:0033799 oboInOwl:hasExactSynonym "Abnormal circulating gonadal steroid concentration" +MONDO:0032934 oboInOwl:hasExactSynonym "genitourinary and/or/brain malformation syndrome" MONDO:0032934 oboInOwl:hasExactSynonym "genitourinary and/or brain malformation syndrome" +MONDO:0029135 oboInOwl:hasExactSynonym "muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8" MONDO:0029135 oboInOwl:hasExactSynonym "LGMD-POMGNT2 related myopathy" MONDO:0024469 oboInOwl:hasExactSynonym "cartilaginous neoplasm" MONDO:0024469 oboInOwl:hasExactSynonym "chondrogenic neoplasm" @@ -110581,6 +111161,7 @@ MONDO:0006784 oboInOwl:hasExactSynonym "vitamin K deficiency bleeding in newborn MONDO:0023551 oboInOwl:hasExactSynonym "C1q nephropathy" MONDO:0007295 oboInOwl:hasExactSynonym "benign childhood epilepsy with centrotemporal spikes" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0007295 oboInOwl:hasExactSynonym "BECTS" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0007295 oboInOwl:hasExactSynonym "centrotemporal epilepsy, isolated cases" MONDO:0007295 oboInOwl:hasExactSynonym "centrotemporal epilepsy" MONDO:0007295 oboInOwl:hasExactSynonym "BECRS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007295 oboInOwl:hasExactSynonym "benign epilepsy with centrotemporal spikes" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -110598,7 +111179,9 @@ MONDO:0007295 oboInOwl:hasExactSynonym "benign familial epilepsy of childhood wi MONDO:0007295 oboInOwl:hasExactSynonym "Rolandic epilepsy" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0005983 oboInOwl:hasExactSynonym "favus" MONDO:0013231 oboInOwl:hasExactSynonym "Leber congenital amaurosis type 14" +MONDO:0013231 oboInOwl:hasExactSynonym "retinal dystrophy, early-onset severe" MONDO:0013231 oboInOwl:hasExactSynonym "LRAT Leber congenital amaurosis" +MONDO:0013231 oboInOwl:hasExactSynonym "retinitis pigmentosa, juvenile" MONDO:0013231 oboInOwl:hasExactSynonym "Leber congenital amaurosis 14" MONDO:0013231 oboInOwl:hasExactSynonym "LCA14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013231 oboInOwl:hasExactSynonym "Leber congenital amaurosis caused by mutation in LRAT" @@ -110668,17 +111251,13 @@ MONDO:0011559 oboInOwl:hasExactSynonym "Bric type 2" MONDO:0011559 oboInOwl:hasExactSynonym "BRIC2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0006166 oboInOwl:hasExactSynonym "columnar cell hyperplasia of breast" MONDO:0006166 oboInOwl:hasExactSynonym "CCH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0016963 oboInOwl:hasExactSynonym "partial duplication of the long arm of chromosome type 13" -MONDO:0016963 oboInOwl:hasExactSynonym "partial trisomy of chromosome 13q" -MONDO:0016963 oboInOwl:hasExactSynonym "partial trisomy of the long arm of chromosome 13" -MONDO:0016963 oboInOwl:hasExactSynonym "partial duplication of chromosome 13q" MONDO:0016616 oboInOwl:hasExactSynonym "pauciarticular chronic arthritis without anti-nuclear antibodies" MONDO:0016616 oboInOwl:hasExactSynonym "oligoarticular JIA without anti-nuclear antibodies" GO:1900450 oboInOwl:hasExactSynonym "downregulation of glutamate signalling pathway" GO:1900450 oboInOwl:hasExactSynonym "down regulation of glutamate signalling pathway" GO:1900450 oboInOwl:hasExactSynonym "inhibition of glutamate signalling pathway" -GO:1900450 oboInOwl:hasExactSynonym "down-regulation of glutamate signaling pathway" GO:1900450 oboInOwl:hasExactSynonym "downregulation of glutamate receptor signaling pathway" +GO:1900450 oboInOwl:hasExactSynonym "down-regulation of glutamate signaling pathway" GO:1900450 oboInOwl:hasExactSynonym "down-regulation of glutamate signalling pathway" GO:1900450 oboInOwl:hasExactSynonym "down-regulation of glutamate receptor signaling pathway" GO:1900450 oboInOwl:hasExactSynonym "negative regulation of glutamate signalling pathway" @@ -110787,13 +111366,16 @@ MONDO:0006856 oboInOwl:hasExactSynonym "mesothelial tumor" MONDO:0012139 oboInOwl:hasExactSynonym "macular dystrophy, retinal, 3" MONDO:0012139 oboInOwl:hasExactSynonym "macular dystrophy, retinal, type 3" MONDO:0007802 oboInOwl:hasExactSynonym "hypospadias 3, autosomal" +MONDO:0007802 oboInOwl:hasExactSynonym "hypospadias 3, autosomal, multifactorial" MONDO:0003206 oboInOwl:hasExactSynonym "acquired hemangioma" MONDO:0002490 oboInOwl:hasExactSynonym "breast sarcoma" MONDO:0002490 oboInOwl:hasExactSynonym "sarcoma of the breast" MONDO:0002490 oboInOwl:hasExactSynonym "sarcoma of breast" MONDO:0018160 oboInOwl:hasExactSynonym "hereditary retinoblastoma" MONDO:0018160 oboInOwl:hasExactSynonym "familial retinoblastoma" +MONDO:0018160 oboInOwl:hasExactSynonym "retinoblastoma, autosomal dominant, somatic mutation" MONDO:0018160 oboInOwl:hasExactSynonym "RB1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0018160 oboInOwl:hasExactSynonym "retinoblastoma, trilateral, autosomal dominant, somatic mutation" MONDO:0024634 oboInOwl:hasExactSynonym "disorder of large intestine" MONDO:0024634 oboInOwl:hasExactSynonym "disease or disorder of large intestine" MONDO:0024634 oboInOwl:hasExactSynonym "disease of large intestine" @@ -110868,14 +111450,14 @@ MONDO:0009965 oboInOwl:hasExactSynonym "nephroblastomatosis - fetal ascites - ma MONDO:0014184 oboInOwl:hasExactSynonym "SLI5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014184 oboInOwl:hasExactSynonym "specific language impairment 5" MONDO:0014184 oboInOwl:hasExactSynonym "specific language impairment type 5" -MONDO:0010672 oboInOwl:hasExactSynonym "linear skin defects with multiple congenital anomalies" -MONDO:0010672 oboInOwl:hasExactSynonym "microphthalmia with linear skin defects syndrome" MONDO:0010672 oboInOwl:hasExactSynonym "syndromic microphthalmia type 7" +MONDO:0010672 oboInOwl:hasExactSynonym "linear skin defects with multiple congenital anomalies" MONDO:0010672 oboInOwl:hasExactSynonym "MCOPS7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010672 oboInOwl:hasExactSynonym "MIDAS syndrome" -MONDO:0010672 oboInOwl:hasExactSynonym "linear skin defects with multiple congenital anomalies type 1" MONDO:0010672 oboInOwl:hasExactSynonym "MLS syndrome" MONDO:0010672 oboInOwl:hasExactSynonym "microphthalmia-dermal aplasia-sclerocornea syndrome" +MONDO:0010672 oboInOwl:hasExactSynonym "microphthalmia with linear skin defects syndrome" +MONDO:0010672 oboInOwl:hasExactSynonym "MIDAS syndrome" +MONDO:0010672 oboInOwl:hasExactSynonym "linear skin defects with multiple congenital anomalies type 1" MONDO:0002865 oboInOwl:hasExactSynonym "anal sarcoma" MONDO:0002865 oboInOwl:hasExactSynonym "anus sarcoma" MONDO:0002865 oboInOwl:hasExactSynonym "sarcoma of the anus" @@ -110893,6 +111475,7 @@ MONDO:0015041 oboInOwl:hasExactSynonym "RAEB-II" MONDO:0011089 oboInOwl:hasExactSynonym "patent ductus venosus" MONDO:0011724 oboInOwl:hasExactSynonym "GLUT1 deficiency syndrome type 1" MONDO:0011724 oboInOwl:hasExactSynonym "De Vivo disease" +MONDO:0011724 oboInOwl:hasExactSynonym "GLUT1 deficiency syndrome 1, infantile onset, severe" MONDO:0011724 oboInOwl:hasExactSynonym "GLUT1-DS" MONDO:0011724 oboInOwl:hasExactSynonym "glucose transporter type 1 deficiency" MONDO:0011724 oboInOwl:hasExactSynonym "encephalopathy due to GLUT1 deficiency" @@ -110906,8 +111489,8 @@ CHEBI:58095 oboInOwl:hasExactSynonym "(2S)-2-azaniumyl-3-phenylpropanoate" MONDO:0015369 oboInOwl:hasExactSynonym "JSRD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015369 oboInOwl:hasExactSynonym "Joubert syndrome and related disorders" MONDO:0001173 oboInOwl:hasExactSynonym "salpingitis, acute" -MONDO:0017569 oboInOwl:hasExactSynonym "progeroid syndrome, De Barsy type" MONDO:0017569 oboInOwl:hasExactSynonym "cutis laxa-corneal clouding-intellectual disability syndrome" +MONDO:0017569 oboInOwl:hasExactSynonym "progeroid syndrome, De Barsy type" MONDO:0017569 oboInOwl:hasExactSynonym "De Barsy syndrome" MONDO:0016482 oboInOwl:hasExactSynonym "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11" MONDO:0016482 oboInOwl:hasExactSynonym "UPD(11)mat" @@ -110957,8 +111540,10 @@ MONDO:0009050 oboInOwl:hasExactSynonym "pituitary adenoma, ACTH-secreting" MONDO:0009050 oboInOwl:hasExactSynonym "pituitary dependent Cushing syndrome" MONDO:0009050 oboInOwl:hasExactSynonym "PITA4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009050 oboInOwl:hasExactSynonym "Corticotropinoma" +MONDO:0009050 oboInOwl:hasExactSynonym "pituitary adenoma 4, ACTH-secreting, somatic" MONDO:0009050 oboInOwl:hasExactSynonym "pituitary corticotroph micro-adenoma" MONDO:0013791 oboInOwl:hasExactSynonym "thrombophilia due to protein S deficiency, autosomal recessive" +MONDO:0013791 oboInOwl:hasExactSynonym "thrombophilia 5 due to protein S deficiency, autosomal recessive" MONDO:0000916 oboInOwl:hasExactSynonym "bacterial enteritis" MONDO:0014874 oboInOwl:hasExactSynonym "TSEN15 non-syndromic pontocerebellar hypoplasia" MONDO:0014874 oboInOwl:hasExactSynonym "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15" @@ -110998,6 +111583,7 @@ MONDO:0014997 oboInOwl:hasExactSynonym "MAPKBP1 nephronophthisis (disease)" MONDO:0014997 oboInOwl:hasExactSynonym "nephronophthisis 20" MONDO:0012304 oboInOwl:hasExactSynonym "photoparoxysmal response 2" MONDO:0012304 oboInOwl:hasExactSynonym "PPR2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020717 oboInOwl:hasExactSynonym "woolly hair, autosomal dominant" GO:0034645 oboInOwl:hasExactSynonym "cellular macromolecule synthesis" GO:0034645 oboInOwl:hasExactSynonym "cellular biopolymer biosynthetic process" GO:0034645 oboInOwl:hasExactSynonym "cellular macromolecule formation" @@ -111021,6 +111607,7 @@ MONDO:0000780 oboInOwl:hasExactSynonym "Prunus armeniaca caused allergic disease MONDO:0000780 oboInOwl:hasExactSynonym "Prunus armeniaca fruit allergy" MONDO:0005623 oboInOwl:hasExactSynonym "autoimmune thyroid gland inflammation" MONDO:0024290 oboInOwl:hasExactSynonym "enuresis" +MONDO:0009365 oboInOwl:hasExactSynonym "hydrolethalus syndrome" MONDO:0009365 oboInOwl:hasExactSynonym "hydrolethalus syndrome type 1" MONDO:0009365 oboInOwl:hasExactSynonym "HYLS1 hydrolethalus syndrome" MONDO:0009365 oboInOwl:hasExactSynonym "hydrolethalus syndrome caused by mutation in HYLS1" @@ -111033,13 +111620,13 @@ MONDO:0010839 oboInOwl:hasExactSynonym "congenital benign spinal muscular atroph MONDO:0015293 oboInOwl:hasExactSynonym "SOLAMEN syndrome" MONDO:0011033 oboInOwl:hasExactSynonym "insulin-dependent diabetes mellitus 13" MONDO:0011033 oboInOwl:hasExactSynonym "IDDM13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0005281 oboInOwl:hasExactSynonym "gall bladder disease" -MONDO:0005281 oboInOwl:hasExactSynonym "disease of gall bladder" -MONDO:0005281 oboInOwl:hasExactSynonym "disorder of gall bladder" -MONDO:0005281 oboInOwl:hasExactSynonym "Gall bladder disorder" MONDO:0005281 oboInOwl:hasExactSynonym "gallbladder disorder" MONDO:0005281 oboInOwl:hasExactSynonym "gall bladder disease or disorder" +MONDO:0005281 oboInOwl:hasExactSynonym "disease of gall bladder" +MONDO:0005281 oboInOwl:hasExactSynonym "gall bladder disease" +MONDO:0005281 oboInOwl:hasExactSynonym "Gall bladder disorder" MONDO:0005281 oboInOwl:hasExactSynonym "disease or disorder of gall bladder" +MONDO:0005281 oboInOwl:hasExactSynonym "disorder of gall bladder" MONDO:0008798 oboInOwl:hasExactSynonym "HYPONYCHIA congenita" MONDO:0008798 oboInOwl:hasExactSynonym "isolated congenital anonychia caused by mutation in RSPO4" MONDO:0008798 oboInOwl:hasExactSynonym "nonsyndromic congenital nail disorder 4" @@ -111088,6 +111675,7 @@ MONDO:0010533 oboInOwl:hasExactSynonym "syndromic X-linked mental retardation Ar MONDO:0010533 oboInOwl:hasExactSynonym "fatal X-linked ataxia with deafness and loss of vision" MONDO:0010533 oboInOwl:hasExactSynonym "Arts" MONDO:0010533 oboInOwl:hasExactSynonym "MRXS18" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010533 oboInOwl:hasExactSynonym "Arts syndrome, X-linked recessive" MONDO:0010533 oboInOwl:hasExactSynonym "lethal ataxia with deafness and optic atrophy" MONDO:0010533 oboInOwl:hasExactSynonym "syndromic X-linked intellectual disability Arts type" MONDO:0010533 oboInOwl:hasExactSynonym "syndromic X-linked mental retardation 18" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -111101,8 +111689,8 @@ MONDO:0012298 oboInOwl:hasExactSynonym "omphalocele, diaphragmatic hernia, and r MONDO:0024797 oboInOwl:hasExactSynonym "adult brainstem neoplasm" MONDO:0024797 oboInOwl:hasExactSynonym "tumor of the adult brainstem" MONDO:0024797 oboInOwl:hasExactSynonym "adult brain stem neoplasm" -MONDO:0024797 oboInOwl:hasExactSynonym "adult brainstem tumor" MONDO:0024797 oboInOwl:hasExactSynonym "tumor of adult brainstem" +MONDO:0024797 oboInOwl:hasExactSynonym "adult brainstem tumor" MONDO:0024797 oboInOwl:hasExactSynonym "adult brain stem tumor" MONDO:0024797 oboInOwl:hasExactSynonym "tumor of the adult brain stem" MONDO:0024797 oboInOwl:hasExactSynonym "tumor of adult brain stem" @@ -111131,6 +111719,7 @@ MONDO:0014477 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy MONDO:0014477 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 26" MONDO:0014477 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 26" MONDO:0014477 oboInOwl:hasExactSynonym "DEE26" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014477 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 26" MONDO:0014477 oboInOwl:hasExactSynonym "EIEE26" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014477 oboInOwl:hasExactSynonym "KCNB1 early infantile epileptic encephalopathy" MONDO:0012200 oboInOwl:hasExactSynonym "corneal dystrophy, posterior polymorphous, type 3" @@ -111151,6 +111740,7 @@ MONDO:0008042 oboInOwl:hasExactSynonym "myoclonus and ataxia" MONDO:0026771 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 85, with or without midline brain defects" MONDO:0026771 oboInOwl:hasExactSynonym "DEE85, with or without midline brain defects" MONDO:0026771 oboInOwl:hasExactSynonym "EIEE85" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0026771 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 85, with or without midline brain defects, X-linked dominant" GO:0001678 oboInOwl:hasExactSynonym "cell glucose homeostasis" CHEBI:17891 oboInOwl:hasExactSynonym "Donor" MONDO:0012695 oboInOwl:hasExactSynonym "RPGRIP1L Meckel syndrome" @@ -111205,6 +111795,7 @@ MONDO:0016287 oboInOwl:hasExactSynonym "cervical adenoid basal carcinoma" GO:2000195 oboInOwl:hasExactSynonym "negative regulation of ovary development" GO:2000195 oboInOwl:hasExactSynonym "negative regulation of ovarian development" MONDO:0012882 oboInOwl:hasExactSynonym "major affective disorder 9" +MONDO:0012882 oboInOwl:hasExactSynonym "major affective disorder-9, susceptibility to" MONDO:0012882 oboInOwl:hasExactSynonym "MAFD9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015072 oboInOwl:hasExactSynonym "primary hepatic neuroendocrine carcinoma" MONDO:0015072 oboInOwl:hasExactSynonym "primary liver neuroendocrine carcinoma" @@ -111219,6 +111810,7 @@ MONDO:0003157 oboInOwl:hasExactSynonym "phantom bone disease" MONDO:0003157 oboInOwl:hasExactSynonym "essential osteolysis" MONDO:0010711 oboInOwl:hasExactSynonym "tarp syndrome" MONDO:0010711 oboInOwl:hasExactSynonym "Pierre Robin syndrome-congenital heart defect-talipes syndrome" +MONDO:0010711 oboInOwl:hasExactSynonym "TARP syndrome, X-linked recessive" MONDO:0010711 oboInOwl:hasExactSynonym "Pierre Robin sequence-congenital heart defect-talipes syndrome" MONDO:0010711 oboInOwl:hasExactSynonym "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome" MONDO:0021517 oboInOwl:hasExactSynonym "benign tracheal neoplasm" @@ -111241,11 +111833,12 @@ MONDO:0006533 oboInOwl:hasExactSynonym "cholesteatoma of middle ear" MONDO:0006533 oboInOwl:hasExactSynonym "middle ear cholesteatoma" MONDO:0006533 oboInOwl:hasExactSynonym "cholesteatoma of middle ear and/or mastoid" MONDO:0100445 oboInOwl:hasExactSynonym "LCA5 retinopathy" +MONDO:0010312 oboInOwl:hasExactSynonym "radial ray deficiency" MONDO:0010312 oboInOwl:hasExactSynonym "radial ray deficiency, X-linked" MONDO:0016474 oboInOwl:hasExactSynonym "DILE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016474 oboInOwl:hasExactSynonym "drug induced lupus" -MONDO:0016474 oboInOwl:hasExactSynonym "drug induced lupus erythematosus" MONDO:0016474 oboInOwl:hasExactSynonym "drug-induced lupus" +MONDO:0016474 oboInOwl:hasExactSynonym "drug induced lupus erythematosus" MONDO:0044885 oboInOwl:hasExactSynonym "tonsil lipoma" MONDO:0044885 oboInOwl:hasExactSynonym "tonsillar lipoma" MONDO:0044885 oboInOwl:hasExactSynonym "lipoma of the tonsil" @@ -111265,8 +111858,8 @@ MONDO:0005131 oboInOwl:hasExactSynonym "cervical carcinoma" MONDO:0005131 oboInOwl:hasExactSynonym "uterine cervix carcinoma" MONDO:0005131 oboInOwl:hasExactSynonym "carcinoma of the cervix uteri" MONDO:0005131 oboInOwl:hasExactSynonym "cervix uteri carcinoma" -MONDO:0005131 oboInOwl:hasExactSynonym "carcinoma of cervix uteri" MONDO:0005131 oboInOwl:hasExactSynonym "cancer of the cervix" +MONDO:0005131 oboInOwl:hasExactSynonym "carcinoma of cervix uteri" MONDO:0005131 oboInOwl:hasExactSynonym "cancer of the uterine cervix" MONDO:0005131 oboInOwl:hasExactSynonym "carcinoma of the uterine cervix" MONDO:0007100 oboInOwl:hasExactSynonym "familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese type)" @@ -111297,6 +111890,7 @@ MONDO:0015579 oboInOwl:hasExactSynonym "Alpha-thalassemia hydrops fetalis" MONDO:0015579 oboInOwl:hasExactSynonym "Alpha-thalassemia major" MONDO:0015579 oboInOwl:hasExactSynonym "Hemoglobin Bart's hydrops fetalis" MONDO:0015579 oboInOwl:hasExactSynonym "homozygous alpha0-thalassemia" +MONDO:0012170 oboInOwl:hasExactSynonym "deafness, neurosensory, without vestibular involvement, autosomal dominant" MONDO:0016521 oboInOwl:hasExactSynonym "Kocher-Debré-Semelaigne syndrome" MONDO:0016521 oboInOwl:hasExactSynonym "Hoffman syndrome" MONDO:0016521 oboInOwl:hasExactSynonym "Kocher-DebrC)-Semelaigne syndrome" @@ -111307,12 +111901,12 @@ MONDO:0016695 oboInOwl:hasExactSynonym "WHO grade II oligodendroglial tumor" MONDO:0016695 oboInOwl:hasExactSynonym "WHO grade II oligodendroglial neoplasm" MONDO:0016695 oboInOwl:hasExactSynonym "well differentiated oligodendroglial tumor" MONDO:0016695 oboInOwl:hasExactSynonym "well differentiated oligodendroglioma" -MONDO:0018895 oboInOwl:hasExactSynonym "Sideropenic dysphagia" -MONDO:0018895 oboInOwl:hasExactSynonym "Kelly-Paterson syndrome" GO:0055025 oboInOwl:hasExactSynonym "upregulation of cardiac muscle development" GO:0055025 oboInOwl:hasExactSynonym "up-regulation of cardiac muscle development" GO:0055025 oboInOwl:hasExactSynonym "up regulation of cardiac muscle development" GO:0055025 oboInOwl:hasExactSynonym "positive regulation of heart muscle development" +MONDO:0018895 oboInOwl:hasExactSynonym "Sideropenic dysphagia" +MONDO:0018895 oboInOwl:hasExactSynonym "Kelly-Paterson syndrome" MONDO:0008659 oboInOwl:hasExactSynonym "Haptocorrin deficiency" MONDO:0008659 oboInOwl:hasExactSynonym "transcobalamin-1 deficiency" MONDO:0008659 oboInOwl:hasExactSynonym "transcobalamin I deficiency" @@ -111320,6 +111914,7 @@ MONDO:0008659 oboInOwl:hasExactSynonym "TCI deficiency" NCBITaxon:138950 oboInOwl:hasExactSynonym "Poliovirus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:138950 oboInOwl:hasExactSynonym "Enterovirus EV-C" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:138950 oboInOwl:hasExactSynonym "Human enterovirus C" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name +MONDO:0012519 oboInOwl:hasExactSynonym "chromosome 16p13.3 deletion syndrome" MONDO:0001927 oboInOwl:hasExactSynonym "regurgitation, pulmonary" MONDO:0001927 oboInOwl:hasExactSynonym "pulmonary regurgitation" MONDO:0001927 oboInOwl:hasExactSynonym "pulmonary regurg." @@ -111398,6 +111993,7 @@ MONDO:0006121 oboInOwl:hasExactSynonym "CFT" http://purl.obolibrary.org/obo/mond MONDO:0006121 oboInOwl:hasExactSynonym "calcifying fibrous pseudotumor" MONDO:0007406 oboInOwl:hasExactSynonym "cryofibrinogenemia, familial primary" MONDO:0010713 oboInOwl:hasExactSynonym "properdin deficiency, X-linked" +MONDO:0010713 oboInOwl:hasExactSynonym "properdin deficiency, X-linked, X-linked recessive" MONDO:0013160 oboInOwl:hasExactSynonym "congenital muscular dystrophy-POMT2 related" MONDO:0013160 oboInOwl:hasExactSynonym "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2" MONDO:0013160 oboInOwl:hasExactSynonym "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -111406,6 +112002,8 @@ MONDO:0015378 oboInOwl:hasExactSynonym "fourth branchial cleft fistula" CHEBI:22695 oboInOwl:hasExactSynonym "Base" CHEBI:22695 oboInOwl:hasExactSynonym "base" MONDO:0011285 oboInOwl:hasExactSynonym "macular Degeneration, age-related, type 1" +MONDO:0011285 oboInOwl:hasExactSynonym "macular degeneration, age-related" +MONDO:0011285 oboInOwl:hasExactSynonym "macular degeneration, age-related, reduced risk of" MONDO:0011285 oboInOwl:hasExactSynonym "age related macular degeneration type 1" MONDO:0011285 oboInOwl:hasExactSynonym "ARMD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011285 oboInOwl:hasExactSynonym "age related maculopathy 1" @@ -111450,6 +112048,7 @@ MONDO:0015744 oboInOwl:hasExactSynonym "distal duplication 19q" MONDO:0015744 oboInOwl:hasExactSynonym "distal trisomy type 19q" MONDO:0015744 oboInOwl:hasExactSynonym "trisomy 19qter" MONDO:0010117 oboInOwl:hasExactSynonym "three M syndrome type 1" +MONDO:0010117 oboInOwl:hasExactSynonym "3-M syndrome 1" MONDO:0010117 oboInOwl:hasExactSynonym "3-M syndrome caused by mutation in CUL7" MONDO:0010117 oboInOwl:hasExactSynonym "Cul7 3-M syndrome" MONDO:0010117 oboInOwl:hasExactSynonym "3-M syndrome caused by mutation in Cul7" @@ -111459,6 +112058,7 @@ MONDO:0020794 oboInOwl:hasExactSynonym "colorectal medullary carcinoma" MONDO:0002614 oboInOwl:hasExactSynonym "osteitis" MONDO:0002614 oboInOwl:hasExactSynonym "inflammatory disorder of bone" MONDO:0002614 oboInOwl:hasExactSynonym "bone inflammatory disease" +MONDO:0026856 oboInOwl:hasExactSynonym "homosexuality, male" GO:0045727 oboInOwl:hasExactSynonym "positive regulation of protein synthesis" GO:0045727 oboInOwl:hasExactSynonym "up regulation of protein biosynthetic process" GO:0045727 oboInOwl:hasExactSynonym "upregulation of protein biosynthetic process" @@ -111471,6 +112071,7 @@ MONDO:0018497 oboInOwl:hasExactSynonym "rare autonomic nervous system disease" MONDO:0019828 oboInOwl:hasExactSynonym "ectopic neurohypophysis" MONDO:0019828 oboInOwl:hasExactSynonym "PSIS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019828 oboInOwl:hasExactSynonym "hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary" +MONDO:0009335 oboInOwl:hasExactSynonym "hemolytic uremic syndrome, atypical, susceptibility to" MONDO:0009335 oboInOwl:hasExactSynonym "hemolytic uremic syndrome, atypical, susceptibility to, type 1" MONDO:0009335 oboInOwl:hasExactSynonym "hemolytic uremic syndrome, atypical, susceptibility to, 1" MONDO:0004990 oboInOwl:hasExactSynonym "luminal breast cancer" @@ -111494,6 +112095,9 @@ CHEBI:33664 oboInOwl:hasExactSynonym "monocyclic hydrocarbons" CHEBI:33664 oboInOwl:hasExactSynonym "monocyclic hydrocarbon" CL:0019003 oboInOwl:hasExactSynonym "goblet cell of tracheobronchial tree" MONDO:0011558 oboInOwl:hasExactSynonym "Usher syndrome type IIC" +MONDO:0011558 oboInOwl:hasExactSynonym "Usher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant" +MONDO:0011558 oboInOwl:hasExactSynonym "Usher syndrome, type 2C, autosomal recessive, digenic dominant" +MONDO:0011558 oboInOwl:hasExactSynonym "Usher syndrome, type 2C, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant" MONDO:0011558 oboInOwl:hasExactSynonym "USH2C" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0021381 oboInOwl:hasExactSynonym "neoplasm of pericardium" MONDO:0021381 oboInOwl:hasExactSynonym "neoplasm of the pericardium" @@ -111547,6 +112151,7 @@ MONDO:0020709 oboInOwl:hasExactSynonym "Majocchi's granuloma" MONDO:0013395 oboInOwl:hasExactSynonym "RP4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013395 oboInOwl:hasExactSynonym "RHO retinitis pigmentosa" MONDO:0013395 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation in RHO" +MONDO:0013395 oboInOwl:hasExactSynonym "retinitis pigmentosa 4, autosomal dominant or recessive" MONDO:0013395 oboInOwl:hasExactSynonym "retinitis pigmentosa type 4" MONDO:0013395 oboInOwl:hasExactSynonym "retinitis pigmentosa 4" MONDO:0014341 oboInOwl:hasExactSynonym "TUBB complex cortical dysplasia with other brain malformations" @@ -111565,8 +112170,8 @@ MONDO:0056799 oboInOwl:hasExactSynonym "disease or disorder of layer of synovial MONDO:0056799 oboInOwl:hasExactSynonym "disorder of synovium" MONDO:0056799 oboInOwl:hasExactSynonym "disorder of layer of synovial tissue" MONDO:0056799 oboInOwl:hasExactSynonym "layer of synovial tissue disease" -MONDO:0030032 oboInOwl:hasExactSynonym "Nf1 Microduplication Syndrome" -MONDO:0030032 oboInOwl:hasExactSynonym "CHROMOSOME 17q11.2 DUPLICATION SYNDROME, 1.4-MB" +MONDO:0030032 oboInOwl:hasExactSynonym "chromosome 17q11.2 duplication syndrome, 1.4-mb, isolated cases" +MONDO:0009764 oboInOwl:hasExactSynonym "oculomotor apraxia, congenital, Cogan-type" MONDO:0009764 oboInOwl:hasExactSynonym "oculomotor apraxia, Cogan type" MONDO:0008994 oboInOwl:hasExactSynonym "cleidocranial dysplasia, recessive form" MONDO:0014319 oboInOwl:hasExactSynonym "renal hypodysplasia/aplasia 2" @@ -111618,6 +112223,7 @@ MONDO:0003604 oboInOwl:hasExactSynonym "hormone producing pituitary neoplasm" MONDO:0005227 oboInOwl:hasExactSynonym "abscess (disease)" MONDO:0011450 oboInOwl:hasExactSynonym "breast-ovarian cancer, familial, susceptibility to, 1" MONDO:0011450 oboInOwl:hasExactSynonym "breast-ovarian cancer, familial, susceptibility to, type 1" +MONDO:0011450 oboInOwl:hasExactSynonym "breast-ovarian cancer, familial, 1, multifactorial" MONDO:0011450 oboInOwl:hasExactSynonym "BRCA1 hereditary breast ovarian cancer syndrome" MONDO:0011450 oboInOwl:hasExactSynonym "hereditary breast ovarian cancer syndrome caused by mutation in BRCA1" MONDO:0007296 oboInOwl:hasExactSynonym "spinocerebellar ataxia type 31" @@ -111663,8 +112269,8 @@ MONDO:0002616 oboInOwl:hasExactSynonym "benign miscellaneous mesenchymal tumor" MONDO:0002616 oboInOwl:hasExactSynonym "mesenchymal tumor" MONDO:0002616 oboInOwl:hasExactSynonym "mesenchymal cell neoplasm" MONDO:0018308 oboInOwl:hasExactSynonym "biliary hamartoma" -MONDO:0018308 oboInOwl:hasExactSynonym "hepatic mesenchymal hamartoma" MONDO:0018308 oboInOwl:hasExactSynonym "mesenchymal hamartoma of liver" +MONDO:0018308 oboInOwl:hasExactSynonym "hepatic mesenchymal hamartoma" MONDO:0018308 oboInOwl:hasExactSynonym "liver mesenchymal hamartoma" MONDO:0018308 oboInOwl:hasExactSynonym "VMC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018308 oboInOwl:hasExactSynonym "mesenchymal hamartoma of the liver" @@ -111692,6 +112298,7 @@ MONDO:0013904 oboInOwl:hasExactSynonym "muscular dystrophy-dystroglycanopathy (c MONDO:0013904 oboInOwl:hasExactSynonym "muscle-eye-brain-POMGNT2 related" MONDO:0013904 oboInOwl:hasExactSynonym "POMGNT2 muscular dystrophy-dystroglycanopathy, type A" MONDO:0013904 oboInOwl:hasExactSynonym "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2" +MONDO:0013904 oboInOwl:hasExactSynonym "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8" MONDO:0011840 oboInOwl:hasExactSynonym "CSRP3 familial isolated dilated cardiomyopathy" MONDO:0011840 oboInOwl:hasExactSynonym "familial isolated dilated cardiomyopathy caused by mutation in CSRP3" MONDO:0011840 oboInOwl:hasExactSynonym "dilated cardiomyopathy type 1M" @@ -111708,12 +112315,12 @@ MONDO:0044705 oboInOwl:hasExactSynonym "squamous cell carcinoma of the nasal cav MONDO:0044705 oboInOwl:hasExactSynonym "paranasal sinus squamous cell carcinoma" MONDO:0044705 oboInOwl:hasExactSynonym "epidermoid carcinoma of the paranasal sinus" MONDO:0044705 oboInOwl:hasExactSynonym "squamous cell carcinoma of the paranasal sinus" -MONDO:0020679 oboInOwl:hasExactSynonym "conductive hearing loss" -MONDO:0020679 oboInOwl:hasExactSynonym "conductive deafness" MONDO:0004907 oboInOwl:hasExactSynonym "loss Of hair" MONDO:0004907 oboInOwl:hasExactSynonym "alopecia" MONDO:0004907 oboInOwl:hasExactSynonym "alopecia areata" MONDO:0004907 oboInOwl:hasExactSynonym "hair loss" +MONDO:0020679 oboInOwl:hasExactSynonym "conductive hearing loss" +MONDO:0020679 oboInOwl:hasExactSynonym "conductive deafness" MONDO:0006167 oboInOwl:hasExactSynonym "combined lung carcinoma" MONDO:0006167 oboInOwl:hasExactSynonym "combined lung cancer" MONDO:0006167 oboInOwl:hasExactSynonym "combined carcinoma of the lung" @@ -111728,7 +112335,6 @@ MONDO:0003658 oboInOwl:hasExactSynonym "Gray zone lymphoma" MONDO:0003658 oboInOwl:hasExactSynonym "Hodgkin-like anaplastic large cell lymphoma" MONDO:0003658 oboInOwl:hasExactSynonym "B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma" MONDO:0003658 oboInOwl:hasExactSynonym "B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma" -MONDO:0004177 oboInOwl:hasExactSynonym "benign neoplasm of urethra" MONDO:0004177 oboInOwl:hasExactSynonym "benign urethra tumor" MONDO:0004177 oboInOwl:hasExactSynonym "urethra benign neoplasm" MONDO:0004177 oboInOwl:hasExactSynonym "benign neoplasm of the urethra" @@ -111738,6 +112344,7 @@ MONDO:0004177 oboInOwl:hasExactSynonym "benign urethra neoplasm" MONDO:0004177 oboInOwl:hasExactSynonym "benign urethral tumor" MONDO:0004177 oboInOwl:hasExactSynonym "benign urethral neoplasm" MONDO:0004177 oboInOwl:hasExactSynonym "benign tumor of the urethra" +MONDO:0004177 oboInOwl:hasExactSynonym "benign neoplasm of urethra" MONDO:0006377 oboInOwl:hasExactSynonym "pleural biphasic mesothelioma" MONDO:0100289 oboInOwl:hasExactSynonym "Goldmann-Favre syndrome" MONDO:0100289 oboInOwl:hasExactSynonym "Favre hyaloideoretinal Degeneration" @@ -111759,10 +112366,10 @@ MONDO:0054817 oboInOwl:hasExactSynonym "leukodystrophy, hypomyelinating, 17" MONDO:0001876 oboInOwl:hasExactSynonym "atherosclerosis of renal artery" MONDO:0001876 oboInOwl:hasExactSynonym "renal atherosclerosis" MONDO:0001876 oboInOwl:hasExactSynonym "renal artery atherosclerosis" +MONDO:0007779 oboInOwl:hasExactSynonym "ADOS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007779 oboInOwl:hasExactSynonym "autosomal dominant Opitz syndrome" MONDO:0007779 oboInOwl:hasExactSynonym "autosomal dominant Opitz BBB/G syndrome" MONDO:0007779 oboInOwl:hasExactSynonym "Opitz G/BBB syndrome, autosomal dominant" -MONDO:0007779 oboInOwl:hasExactSynonym "ADOS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:1905038 oboInOwl:hasExactSynonym "regulation of membrane lipid metabolism" MONDO:0014601 oboInOwl:hasExactSynonym "autosomal recessive spinocerebellar ataxia type 20" MONDO:0014601 oboInOwl:hasExactSynonym "autosomal recessive cerebellar ataxia caused by mutation in SNX14" @@ -111967,6 +112574,7 @@ MONDO:0015471 oboInOwl:hasExactSynonym "adolescent benign focal crisis" MONDO:0020026 oboInOwl:hasExactSynonym "rare female infertility" MONDO:0001028 oboInOwl:hasExactSynonym "periodontitis, acute" MONDO:0001028 oboInOwl:hasExactSynonym "acute periodontitis" +MONDO:0013792 oboInOwl:hasExactSynonym "stroke, hemorrhagic" MONDO:0001204 oboInOwl:hasExactSynonym "sarcoma of the esophagus" MONDO:0001204 oboInOwl:hasExactSynonym "esophagus sarcoma" MONDO:0001204 oboInOwl:hasExactSynonym "esophageal sarcoma" @@ -111990,6 +112598,9 @@ MONDO:0019499 oboInOwl:hasExactSynonym "karyotype 45, X" GO:0002638 oboInOwl:hasExactSynonym "down regulation of immunoglobulin production" GO:0002638 oboInOwl:hasExactSynonym "down-regulation of immunoglobulin production" GO:0002638 oboInOwl:hasExactSynonym "downregulation of immunoglobulin production" +MONDO:0044222 oboInOwl:hasExactSynonym "blood group, P1PK system, P(k) phenotype" +MONDO:0044222 oboInOwl:hasExactSynonym "blood group, P1Pk system, P(2) phenotype" +MONDO:0044222 oboInOwl:hasExactSynonym "blood group, P1Pk system, p phenotype" GO:0050912 oboInOwl:hasExactSynonym "sensory detection of chemical stimulus during perception of taste" GO:0050912 oboInOwl:hasExactSynonym "sensory transduction of chemical stimulus during perception of taste" GO:0050912 oboInOwl:hasExactSynonym "perception of taste, detection of chemical stimulus" @@ -112006,11 +112617,14 @@ GO:0044060 oboInOwl:hasExactSynonym "regulation of endocrine system process" MONDO:0006369 oboInOwl:hasExactSynonym "pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)" MONDO:0006369 oboInOwl:hasExactSynonym "pineal parenchymal tumor of intermediate differentiation" MONDO:0006369 oboInOwl:hasExactSynonym "pineal parenchymal tumour of intermediate differentiation" -MONDO:0009179 oboInOwl:hasExactSynonym "RDEB generalisata gravis" +MONDO:0009179 oboInOwl:hasExactSynonym "epidermolysis bullosa dystrophica, AR" MONDO:0009179 oboInOwl:hasExactSynonym "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type" -MONDO:0009179 oboInOwl:hasExactSynonym "RDEB, Hallopeau-Siemens type" MONDO:0009179 oboInOwl:hasExactSynonym "RDEB-sev gen" +MONDO:0009179 oboInOwl:hasExactSynonym "EBD inversa" +MONDO:0009179 oboInOwl:hasExactSynonym "RDEB, Hallopeau-Siemens type" MONDO:0009179 oboInOwl:hasExactSynonym "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis" +MONDO:0009179 oboInOwl:hasExactSynonym "epidermolysis bullosa dystrophica, autosomal recessive, modifier of" +MONDO:0009179 oboInOwl:hasExactSynonym "RDEB generalisata gravis" MONDO:0009569 oboInOwl:hasExactSynonym "mastocytosis-short stature-hearing loss syndrome" MONDO:0008799 oboInOwl:hasExactSynonym "syndromic microphthalmia type 3" MONDO:0008799 oboInOwl:hasExactSynonym "microphthalmia, syndromic type 3" @@ -112030,6 +112644,7 @@ MONDO:0007311 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease-deafness syn MONDO:0007311 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease and deafness" MONDO:0007311 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease demyelinating type 1E" MONDO:0007311 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease-deafness" +MONDO:0007311 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 1E" MONDO:0002469 oboInOwl:hasExactSynonym "malignant mixed neoplasm of the lacrimal gland" MONDO:0002469 oboInOwl:hasExactSynonym "lacrimal gland malignant mixed neoplasm" MONDO:0002469 oboInOwl:hasExactSynonym "malignant mixed tumor of lacrimal gland" @@ -112070,13 +112685,15 @@ MONDO:0024291 oboInOwl:hasExactSynonym "vascular malformation" MONDO:0004270 oboInOwl:hasExactSynonym "ductal adenoma" MONDO:0004270 oboInOwl:hasExactSynonym "breast ductal adenoma" MONDO:0009366 oboInOwl:hasExactSynonym "low pressure hydrocephalus" +MONDO:0009366 oboInOwl:hasExactSynonym "hydrocephalus, normal pressure, 1" MONDO:0009366 oboInOwl:hasExactSynonym "chronic adult hydrocephalus" MONDO:0009366 oboInOwl:hasExactSynonym "NPH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030024 oboInOwl:hasExactSynonym "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES" MONDO:0030024 oboInOwl:hasExactSynonym "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities" MONDO:0030024 oboInOwl:hasExactSynonym "NEDASB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012715 oboInOwl:hasExactSynonym "migraine with or without aura, susceptibility to, 12" MONDO:0012715 oboInOwl:hasExactSynonym "MGR12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012715 oboInOwl:hasExactSynonym "migraine, with or without aura, susceptibility to, 12" +MONDO:0012715 oboInOwl:hasExactSynonym "migraine with or without aura, susceptibility to, 12" GO:0033280 oboInOwl:hasExactSynonym "response to calciferol" GO:0004683 oboInOwl:hasExactSynonym "Ca2+/CaM-dependent kinase activity" GO:0004683 oboInOwl:hasExactSynonym "calcium- and calmodulin-dependent protein kinase activity" @@ -112108,6 +112725,7 @@ GO:0022848 oboInOwl:hasExactSynonym "ionotropic acetylcholine receptor activity" GO:0022848 oboInOwl:hasExactSynonym "nicotinergic acetylcholine receptor activity" MONDO:0007829 oboInOwl:hasExactSynonym "cholestasis, intrahepatic, of pregnancy, 1" MONDO:0007829 oboInOwl:hasExactSynonym "cholestasis, intrahepatic, of pregnancy, type 1" +MONDO:0032660 oboInOwl:hasExactSynonym "spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant" MONDO:0011255 oboInOwl:hasExactSynonym "macroblepharon-ectropion-hypertelorism-macrostomia syndrome" MONDO:0014478 oboInOwl:hasExactSynonym "mirror movements type 3" MONDO:0014478 oboInOwl:hasExactSynonym "mirror movements 3" @@ -112121,8 +112739,8 @@ MONDO:0010040 oboInOwl:hasExactSynonym "ataxia, spastic, childhood-onset, autoso MONDO:0001174 oboInOwl:hasExactSynonym "vascular abnormalities of conjunctiva" MONDO:0001174 oboInOwl:hasExactSynonym "conjunctival vasculature disease or disorder" MONDO:0001174 oboInOwl:hasExactSynonym "conjunctival vascular disorder" -MONDO:0001174 oboInOwl:hasExactSynonym "disease of conjunctival vasculature" MONDO:0001174 oboInOwl:hasExactSynonym "disease or disorder of conjunctival vasculature" +MONDO:0001174 oboInOwl:hasExactSynonym "disease of conjunctival vasculature" MONDO:0001174 oboInOwl:hasExactSynonym "disorder of conjunctival vasculature" MONDO:0001174 oboInOwl:hasExactSynonym "conjunctival vasculature disease" MONDO:0001174 oboInOwl:hasExactSynonym "conjunctival vascular abnormality" @@ -112211,6 +112829,7 @@ MONDO:0015940 oboInOwl:hasExactSynonym "rare rheumatologic disorder" MONDO:0010313 oboInOwl:hasExactSynonym "ACSL4 non-syndromic X-linked intellectual disability" MONDO:0010313 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 63" MONDO:0010313 oboInOwl:hasExactSynonym "non-syndromic X-linked intellectual disability caused by mutation in ACSL4" +MONDO:0010313 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 63, X-linked dominant" MONDO:0010313 oboInOwl:hasExactSynonym "intellectual disability, X-linked 63" MONDO:0010313 oboInOwl:hasExactSynonym "mental retardation, X-linked type 63" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0009910 oboInOwl:hasExactSynonym "neonatal progeroid syndrome" @@ -112259,6 +112878,7 @@ HP:0000853 oboInOwl:hasExactSynonym "Thyroid goitre" http://purl.obolibrary.org/ HP:0000853 oboInOwl:hasExactSynonym "Thyroid goiter" MONDO:0016522 oboInOwl:hasExactSynonym "sacral meningocele-conotruncal heart defects syndrome" CL:0000831 oboInOwl:hasExactSynonym "MCP" +MONDO:0010296 oboInOwl:hasExactSynonym "immunodeficiency 61, X-linked recessive" MONDO:0010296 oboInOwl:hasExactSynonym "AGMX2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016696 oboInOwl:hasExactSynonym "oligodendroglioma, anaplastic, malignant" MONDO:0016696 oboInOwl:hasExactSynonym "undifferentiated oligodendroglioma" @@ -112344,6 +112964,7 @@ MONDO:0010714 oboInOwl:hasExactSynonym "Sudanophilic leukodystrophy, Paelizeus-M MONDO:0010714 oboInOwl:hasExactSynonym "leukodystrophy, sudanophilic" MONDO:0010714 oboInOwl:hasExactSynonym "PMD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010714 oboInOwl:hasExactSynonym "Pelizaeus Merzbacher brain sclerosis" +MONDO:0010714 oboInOwl:hasExactSynonym "Pelizaeus-Merzbacher disease, X-linked recessive" MONDO:0010714 oboInOwl:hasExactSynonym "Pelizaeus-Merzbacher disease" MONDO:0010714 oboInOwl:hasExactSynonym "HLD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010714 oboInOwl:hasExactSynonym "hypomyelinating leukodystrophy 1" @@ -112355,6 +112976,7 @@ MONDO:0024493 oboInOwl:hasExactSynonym "G3" http://purl.obolibrary.org/obo/mondo MONDO:0024493 oboInOwl:hasExactSynonym "grade III" MONDO:0024493 oboInOwl:hasExactSynonym "poorly differentiated" MONDO:0007695 oboInOwl:hasExactSynonym "hairy palms and soles" +MONDO:0042486 oboInOwl:hasExactSynonym "polyposis syndrome, hereditary mixed 1" MONDO:0042486 oboInOwl:hasExactSynonym "polyposis syndrome, hereditary mixed, 1" GO:1902020 oboInOwl:hasExactSynonym "downregulation of ciliary cell motility" GO:1902020 oboInOwl:hasExactSynonym "down-regulation of ciliary cell motility" @@ -112396,8 +113018,8 @@ MONDO:0004355 oboInOwl:hasExactSynonym "pediatric leukemia (disease)" MONDO:0004355 oboInOwl:hasExactSynonym "leukemia (disease) of childhood" MONDO:0004355 oboInOwl:hasExactSynonym "childhood leukemia (disease)" MONDO:0004355 oboInOwl:hasExactSynonym "childhood leukemia" -MONDO:0007407 oboInOwl:hasExactSynonym "primary cryoglobulinemia" MONDO:0007407 oboInOwl:hasExactSynonym "essential cryoglobulinemia" +MONDO:0007407 oboInOwl:hasExactSynonym "primary cryoglobulinemia" MONDO:0007407 oboInOwl:hasExactSynonym "mixed cryoglobulinemia" MONDO:0007407 oboInOwl:hasExactSynonym "MC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007407 oboInOwl:hasExactSynonym "essential mixed cryoglobulinemia" @@ -112437,6 +113059,7 @@ MONDO:0019701 oboInOwl:hasExactSynonym "chondrodysplasia punctata congenita" GO:0032091 oboInOwl:hasExactSynonym "down regulation of protein binding" GO:0032091 oboInOwl:hasExactSynonym "downregulation of protein binding" GO:0032091 oboInOwl:hasExactSynonym "down-regulation of protein binding" +MONDO:0024551 oboInOwl:hasExactSynonym "lymphoproliferative syndrome, X-linked, 1, X-linked recessive" MONDO:0024551 oboInOwl:hasExactSynonym "X-linked lymphoproliferative disease due to SH2D1A deficiency" MONDO:0008439 oboInOwl:hasExactSynonym "SPEMR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009513 oboInOwl:hasExactSynonym "laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome" @@ -112447,6 +113070,7 @@ MONDO:0009513 oboInOwl:hasExactSynonym "logic syndrome" MONDO:0013289 oboInOwl:hasExactSynonym "agammaglobulinemia 4, autosomal recessive" MONDO:0013289 oboInOwl:hasExactSynonym "autosomal agammaglobulinemia caused by mutation in BLNK" MONDO:0013289 oboInOwl:hasExactSynonym "BLNK autosomal agammaglobulinemia" +MONDO:0013289 oboInOwl:hasExactSynonym "agammaglobulinemia 4" MONDO:0013465 oboInOwl:hasExactSynonym "GNAT2 achromatopsia" MONDO:0013465 oboInOwl:hasExactSynonym "ACHM4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013465 oboInOwl:hasExactSynonym "achromatopsia 4" @@ -112459,11 +113083,6 @@ GO:0043903 oboInOwl:hasExactSynonym "regulation of symbiotic process" MONDO:0003681 oboInOwl:hasExactSynonym "myxoid chondrosarcoma" MONDO:0001213 oboInOwl:hasExactSynonym "chronic serous otitis media" MONDO:0001213 oboInOwl:hasExactSynonym "serous otitis media, chronic" -HP:0030718 oboInOwl:hasExactSynonym "Right atrial dilatation" -HP:0030718 oboInOwl:hasExactSynonym "Enlarged heart right atrium" -HP:0030718 oboInOwl:hasExactSynonym "Dilated right atrium" -MONDO:0009043 oboInOwl:hasExactSynonym "Refetoff syndrome" -MONDO:0009043 oboInOwl:hasExactSynonym "GRTH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0021211 oboInOwl:hasExactSynonym "tumor of brain" MONDO:0021211 oboInOwl:hasExactSynonym "brain tumor" MONDO:0021211 oboInOwl:hasExactSynonym "neoplasm of brain" @@ -112471,6 +113090,11 @@ MONDO:0021211 oboInOwl:hasExactSynonym "neoplasm of the brain" MONDO:0021211 oboInOwl:hasExactSynonym "tumor of the Brain" MONDO:0021211 oboInOwl:hasExactSynonym "brain neoplasm (disease)" MONDO:0021211 oboInOwl:hasExactSynonym "brain neoplasms" +HP:0030718 oboInOwl:hasExactSynonym "Right atrial dilatation" +HP:0030718 oboInOwl:hasExactSynonym "Enlarged heart right atrium" +HP:0030718 oboInOwl:hasExactSynonym "Dilated right atrium" +MONDO:0009043 oboInOwl:hasExactSynonym "Refetoff syndrome" +MONDO:0009043 oboInOwl:hasExactSynonym "GRTH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0055026 oboInOwl:hasExactSynonym "down regulation of cardiac muscle development" GO:0055026 oboInOwl:hasExactSynonym "downregulation of cardiac muscle development" GO:0055026 oboInOwl:hasExactSynonym "negative regulation of heart muscle development" @@ -112478,6 +113102,7 @@ GO:0055026 oboInOwl:hasExactSynonym "down-regulation of cardiac muscle developme MONDO:0009492 oboInOwl:hasExactSynonym "succinyl-CoA:3-oxoacid CoA transferase deficiency" MONDO:0009492 oboInOwl:hasExactSynonym "OXCT1 deficiency" MONDO:0009492 oboInOwl:hasExactSynonym "SCOT deficiency" +MONDO:0009492 oboInOwl:hasExactSynonym "Succinyl CoA:3-oxoacid CoA transferase deficiency" MONDO:0009492 oboInOwl:hasExactSynonym "succinyl-CoA acetoacetate transferase deficiency" MONDO:0009492 oboInOwl:hasExactSynonym "succinyl-CoA:3-ketoacid CoA transferase deficiency" MONDO:0002615 oboInOwl:hasExactSynonym "xanthomatosis" @@ -112501,9 +113126,10 @@ MONDO:0018498 oboInOwl:hasExactSynonym "DORV with subaortic or doubly committed MONDO:0019031 oboInOwl:hasExactSynonym "X-linked congenital dyserythropoietic anemia with thrombocytopenia" MONDO:0019031 oboInOwl:hasExactSynonym "XDAT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019031 oboInOwl:hasExactSynonym "congenital dyserythropoietic anemia with thombocytopenia" +MONDO:0030033 oboInOwl:hasExactSynonym "SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS" MONDO:0030033 oboInOwl:hasExactSynonym "seizures, early-onset, with neurodegeneration and brain calcifications" MONDO:0030033 oboInOwl:hasExactSynonym "SENEBAC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0030033 oboInOwl:hasExactSynonym "SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS" +MONDO:0030033 oboInOwl:hasExactSynonym "seizures, early-onset, with neurodegeneration and brain calcification" MONDO:0017278 oboInOwl:hasExactSynonym "autoimmune polyendocrinopathy" MONDO:0017278 oboInOwl:hasExactSynonym "autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome" MONDO:0017278 oboInOwl:hasExactSynonym "autoimmune polyglandular syndrome(s)" @@ -112542,6 +113168,7 @@ MONDO:0017790 oboInOwl:hasExactSynonym "familial fundic gland polyposis with gas GO:0009888 oboInOwl:hasExactSynonym "histogenesis" MONDO:0013350 oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome type 4b" MONDO:0010964 oboInOwl:hasExactSynonym "COL9A3 multiple epiphyseal dysplasia (disease)" +MONDO:0010964 oboInOwl:hasExactSynonym "epiphyseal dysplasia, multiple, 3, with or without myopathy" MONDO:0010964 oboInOwl:hasExactSynonym "epiphyseal dysplasia, multiple, 3" MONDO:0010964 oboInOwl:hasExactSynonym "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3" MONDO:0010964 oboInOwl:hasExactSynonym "epiphyseal dysplasia, multiple, type 3" @@ -112575,6 +113202,7 @@ MONDO:0016325 oboInOwl:hasExactSynonym "glycogenosis with hypertrophic cardiomyo CL:1000280 oboInOwl:hasExactSynonym "non-striated muscle fiber of colon" MONDO:0008721 oboInOwl:hasExactSynonym "MCAD deficiency" MONDO:0008721 oboInOwl:hasExactSynonym "Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency" +MONDO:0008721 oboInOwl:hasExactSynonym "Acyl-CoA dehydrogenase, medium chain, deficiency of" MONDO:0008721 oboInOwl:hasExactSynonym "MCADD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008721 oboInOwl:hasExactSynonym "medium chain acyl-coenzyme A dehydrogenase deficiency" MONDO:0008721 oboInOwl:hasExactSynonym "medium chain acyl-CoA dehydrogenase deficiency" @@ -112618,6 +113246,7 @@ MONDO:0024330 oboInOwl:hasExactSynonym "AOM" http://purl.obolibrary.org/obo/mond MONDO:0024330 oboInOwl:hasExactSynonym "infectious otitis Media" MONDO:0011451 oboInOwl:hasExactSynonym "fatal infantile encephalocardiomyopathy caused by mutation in SCO2" MONDO:0011451 oboInOwl:hasExactSynonym "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1" +MONDO:0011451 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 2" MONDO:0011451 oboInOwl:hasExactSynonym "SCO2 fatal infantile encephalocardiomyopathy" MONDO:0011451 oboInOwl:hasExactSynonym "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" CL:0001008 oboInOwl:hasExactSynonym "Sca1-positive hematopoietic stem cell" @@ -112668,6 +113297,7 @@ MONDO:0005817 oboInOwl:hasExactSynonym "KLüver-Bucy syndrome" MONDO:0005817 oboInOwl:hasExactSynonym "Klver-Bucy syndrome" MONDO:0001003 oboInOwl:hasExactSynonym "talc pneumoconiosis" MONDO:0020632 oboInOwl:hasExactSynonym "IECEE3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020632 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 93" MONDO:0020632 oboInOwl:hasExactSynonym "epileptic encephalopathy, infantile or early childhood, 3" MONDO:0001877 oboInOwl:hasExactSynonym "infertility due to extratesticular causes" MONDO:0009336 oboInOwl:hasExactSynonym "hemosiderosis, pulmonary, with deficiency of gamma-a globulin" @@ -112690,6 +113320,7 @@ MONDO:0000659 oboInOwl:hasExactSynonym "delta chain disease" CL:0000636 oboInOwl:hasExactSynonym "Muller glia" CL:0000636 oboInOwl:hasExactSynonym "Müller cell" MONDO:0033620 oboInOwl:hasExactSynonym "MFM10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0018663 oboInOwl:hasExactSynonym "Pelger-Huet anomaly with mild skeletal anomalies" MONDO:0018663 oboInOwl:hasExactSynonym "regressive spondylometaphyseal dysplasia" MONDO:0009544 oboInOwl:hasExactSynonym "macrocephaly/megalencephaly syndrome, autosomal recessive" MONDO:0004178 oboInOwl:hasExactSynonym "testicular yolk sac tumor, endodermal sinus pattern" @@ -112705,10 +113336,13 @@ GO:0010891 oboInOwl:hasExactSynonym "negative regulation of triglyceride sequest GO:0010891 oboInOwl:hasExactSynonym "negative regulation of sequestering of triacylglycerol" MONDO:0008324 oboInOwl:hasExactSynonym "pseudoarthrogryposis" MONDO:0008500 oboInOwl:hasExactSynonym "striae distensae, familial" +MONDO:0012163 oboInOwl:hasExactSynonym "severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type" MONDO:0012163 oboInOwl:hasExactSynonym "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID" +MONDO:0012163 oboInOwl:hasExactSynonym "severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive" MONDO:0012163 oboInOwl:hasExactSynonym "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID" MONDO:0012163 oboInOwl:hasExactSynonym "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" MONDO:0010966 oboInOwl:hasExactSynonym "achondrogenesis type IB" +MONDO:0010966 oboInOwl:hasExactSynonym "achondrogenesis Ib" MONDO:0010966 oboInOwl:hasExactSynonym "achondrogenesis Fraccaro type" MONDO:0010966 oboInOwl:hasExactSynonym "achondrogenesis, Parenti-Fraccaro type" MONDO:0017768 oboInOwl:hasExactSynonym "epilepsy, sensory-induced" @@ -112750,6 +113384,7 @@ MONDO:0019703 oboInOwl:hasExactSynonym "sclerosing bone dysplasia" HP:0001600 oboInOwl:hasExactSynonym "Laryngeal anomalies" HP:0001600 oboInOwl:hasExactSynonym "Laryngeal abnormalities" MONDO:0014708 oboInOwl:hasExactSynonym "Ring chromosome type 14" +MONDO:0014708 oboInOwl:hasExactSynonym "ring chromosome 14 syndrome, isolated cases" MONDO:0020248 oboInOwl:hasExactSynonym "degenerative vitreoretinopathy" GO:0070192 oboInOwl:hasExactSynonym "meiotic chromosome organization" GO:0070192 oboInOwl:hasExactSynonym "chromosome organisation involved in meiosis" @@ -112822,6 +113457,7 @@ MONDO:0010674 oboInOwl:hasExactSynonym "mucopolysaccharidosis, type II" MONDO:0010674 oboInOwl:hasExactSynonym "mucopolysaccharidosis II" MONDO:0010674 oboInOwl:hasExactSynonym "MPS 2" MONDO:0010674 oboInOwl:hasExactSynonym "mucopolysaccharidosis, type 2" +MONDO:0010674 oboInOwl:hasExactSynonym "mucopolysaccharidosis II, X-linked recessive" MONDO:0010674 oboInOwl:hasExactSynonym "MPS II" MONDO:0010674 oboInOwl:hasExactSynonym "sulfoiduronate sulfatase deficiency" MONDO:0005985 oboInOwl:hasExactSynonym "Togaviridae disease or disorder" @@ -112875,10 +113511,6 @@ MONDO:0020634 oboInOwl:hasExactSynonym "meningioma, malignant" MONDO:0020634 oboInOwl:hasExactSynonym "grade III meningioma" MONDO:0020634 oboInOwl:hasExactSynonym "WHO grade III meningioma" MONDO:0020634 oboInOwl:hasExactSynonym "grade 3 meningioma" -MONDO:0011841 oboInOwl:hasExactSynonym "BBGD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011841 oboInOwl:hasExactSynonym "thiamine-responsive encephalopathy" -MONDO:0011841 oboInOwl:hasExactSynonym "biotin-thiamine-responsive basal ganglia disease" -MONDO:0011841 oboInOwl:hasExactSynonym "BTBGD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001879 oboInOwl:hasExactSynonym "malignant anal tumor" MONDO:0001879 oboInOwl:hasExactSynonym "malignant tumor of anus" MONDO:0001879 oboInOwl:hasExactSynonym "malignant anal neoplasm" @@ -112888,6 +113520,11 @@ MONDO:0001879 oboInOwl:hasExactSynonym "malignant neoplasm of the anus" MONDO:0001879 oboInOwl:hasExactSynonym "cancer of anus" MONDO:0001879 oboInOwl:hasExactSynonym "malignant anus neoplasm" MONDO:0001879 oboInOwl:hasExactSynonym "malignant tumor of the anus" +MONDO:0011841 oboInOwl:hasExactSynonym "BBGD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011841 oboInOwl:hasExactSynonym "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)" +MONDO:0011841 oboInOwl:hasExactSynonym "thiamine-responsive encephalopathy" +MONDO:0011841 oboInOwl:hasExactSynonym "biotin-thiamine-responsive basal ganglia disease" +MONDO:0011841 oboInOwl:hasExactSynonym "BTBGD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION ECTO:7000063 oboInOwl:hasExactSynonym "liquid water exposure" MONDO:0019127 oboInOwl:hasExactSynonym "polymyositis" MONDO:0019127 oboInOwl:hasExactSynonym "PM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -112904,15 +113541,15 @@ MONDO:0013435 oboInOwl:hasExactSynonym "CILD15" http://purl.obolibrary.org/obo/m MONDO:0013435 oboInOwl:hasExactSynonym "ciliary dyskinesia, primary, type 15" MONDO:0013435 oboInOwl:hasExactSynonym "primary ciliary dyskinesia caused by mutation in CCDC40" MONDO:0013435 oboInOwl:hasExactSynonym "primary ciliary dyskinesia 15 with or without situs inversus" -GO:0005979 oboInOwl:hasExactSynonym "regulation of glycogen formation" -GO:0005979 oboInOwl:hasExactSynonym "regulation of glycogen biosynthesis" -GO:0005979 oboInOwl:hasExactSynonym "regulation of glycogen anabolism" -GO:0005979 oboInOwl:hasExactSynonym "regulation of glycogen synthesis" MONDO:0003354 oboInOwl:hasExactSynonym "heart sarcoma" MONDO:0003354 oboInOwl:hasExactSynonym "cardiac sarcoma" MONDO:0003354 oboInOwl:hasExactSynonym "sarcoma of heart" MONDO:0003354 oboInOwl:hasExactSynonym "sarcoma of the heart" MONDO:0003354 oboInOwl:hasExactSynonym "Cardiac sarcoma" +GO:0005979 oboInOwl:hasExactSynonym "regulation of glycogen formation" +GO:0005979 oboInOwl:hasExactSynonym "regulation of glycogen biosynthesis" +GO:0005979 oboInOwl:hasExactSynonym "regulation of glycogen anabolism" +GO:0005979 oboInOwl:hasExactSynonym "regulation of glycogen synthesis" MONDO:0040925 oboInOwl:hasExactSynonym "latent yaws" MONDO:0017886 oboInOwl:hasExactSynonym "translocation renal cell carcinoma" MONDO:0017886 oboInOwl:hasExactSynonym "carcinoma associated with MITF/TFE translocation" @@ -112925,6 +113562,7 @@ MONDO:0013793 oboInOwl:hasExactSynonym "encephalomyopathy, mitochondrial, due to MONDO:0012423 oboInOwl:hasExactSynonym "mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0012423 oboInOwl:hasExactSynonym "intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome" MONDO:0012423 oboInOwl:hasExactSynonym "MORM syndrome" +MONDO:0012423 oboInOwl:hasExactSynonym "mental retardation, truncal obesity, retinal dystrophy, and micropenis" MONDO:0014876 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive 54" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014876 oboInOwl:hasExactSynonym "TNIK autosomal recessive non-syndromic intellectual disability" MONDO:0014876 oboInOwl:hasExactSynonym "autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK" @@ -112932,11 +113570,13 @@ MONDO:0014876 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive MONDO:0014876 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 54" MONDO:0014876 oboInOwl:hasExactSynonym "MRT54" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014876 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 54" +MONDO:0014876 oboInOwl:hasExactSynonym "intellectual developmental disorder 54" MONDO:0004386 oboInOwl:hasExactSynonym "atypical polypoid adenomyoma of body of uterus" MONDO:0004386 oboInOwl:hasExactSynonym "body of uterus atypical polypoid adenomyoma" GO:0002639 oboInOwl:hasExactSynonym "up-regulation of immunoglobulin production" GO:0002639 oboInOwl:hasExactSynonym "upregulation of immunoglobulin production" GO:0002639 oboInOwl:hasExactSynonym "up regulation of immunoglobulin production" +MONDO:0044223 oboInOwl:hasExactSynonym "blood group, Radin" MONDO:0004796 oboInOwl:hasExactSynonym "infective meningitis" MONDO:0004796 oboInOwl:hasExactSynonym "infectious meningitis" MONDO:0014602 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant type 35" @@ -113060,9 +113700,9 @@ MONDO:0002869 oboInOwl:hasExactSynonym "disorder of cardial valve" MONDO:0002869 oboInOwl:hasExactSynonym "disease or disorder of cardial valve" MONDO:0002869 oboInOwl:hasExactSynonym "valvular heart disorder" MONDO:0002869 oboInOwl:hasExactSynonym "cardial valve disease or disorder" +MONDO:0002869 oboInOwl:hasExactSynonym "valvular heart disease" MONDO:0002869 oboInOwl:hasExactSynonym "heart valve disorder" MONDO:0002869 oboInOwl:hasExactSynonym "disease of cardial valve" -MONDO:0002869 oboInOwl:hasExactSynonym "valvular heart disease" GO:0030224 oboInOwl:hasExactSynonym "monocyte cell differentiation" MONDO:0009746 oboInOwl:hasExactSynonym "hereditary sensory neuropathy type IV" MONDO:0009746 oboInOwl:hasExactSynonym "CIP-anhidrosis syndrome" @@ -113073,6 +113713,7 @@ MONDO:0009746 oboInOwl:hasExactSynonym "congenital insensitivity to pain-anhidro MONDO:0009746 oboInOwl:hasExactSynonym "hereditary sensory and autonomic neuropathy type IV" MONDO:0009746 oboInOwl:hasExactSynonym "insensitivity to pain, congenital, with anhidrosis" MONDO:0009746 oboInOwl:hasExactSynonym "congenital insensitivity to pain with anhidrosis" +MONDO:0013038 oboInOwl:hasExactSynonym "CLOVE syndrome, somatic" MONDO:0013038 oboInOwl:hasExactSynonym "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome" MONDO:0013038 oboInOwl:hasExactSynonym "CLOVES syndrome" MONDO:0013038 oboInOwl:hasExactSynonym "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome" @@ -113084,19 +113725,20 @@ MONDO:0003720 oboInOwl:hasExactSynonym "kidney fibrosarcoma (disease)" MONDO:0003720 oboInOwl:hasExactSynonym "renal fibrosarcoma" MONDO:0003720 oboInOwl:hasExactSynonym "kidney fibrosarcoma" MONDO:0010535 oboInOwl:hasExactSynonym "Bazex-Dupré-Christol syndrome" -MONDO:0010535 oboInOwl:hasExactSynonym "BDCS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010535 oboInOwl:hasExactSynonym "follicular atrophoderma and basal cell carcinomas" +MONDO:0010535 oboInOwl:hasExactSynonym "acrokeratosis paraneoplastica" MONDO:0010535 oboInOwl:hasExactSynonym "Bazex syndrome" +MONDO:0010535 oboInOwl:hasExactSynonym "Bazex-Dupre-Christol syndrome" MONDO:0010535 oboInOwl:hasExactSynonym "acrokeratosis paraneoplastica of Bazex" +MONDO:0010535 oboInOwl:hasExactSynonym "BDCS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010535 oboInOwl:hasExactSynonym "acrokeratosis of Bazex" -MONDO:0010535 oboInOwl:hasExactSynonym "Bazex-Dupre-Christol syndrome" -MONDO:0010535 oboInOwl:hasExactSynonym "acrokeratosis paraneoplastica" -MONDO:0005846 oboInOwl:hasExactSynonym "Microsporidia disease or disorder" -MONDO:0005846 oboInOwl:hasExactSynonym "infection by Microspora" +MONDO:0010535 oboInOwl:hasExactSynonym "follicular atrophoderma and basal cell carcinomas" +MONDO:0010535 oboInOwl:hasExactSynonym "Bazex syndrome, X-linked dominant" MONDO:0005846 oboInOwl:hasExactSynonym "infection by Microsporea" MONDO:0005846 oboInOwl:hasExactSynonym "infection by Microsporida" MONDO:0005846 oboInOwl:hasExactSynonym "Microsporidia caused disease or disorder" +MONDO:0005846 oboInOwl:hasExactSynonym "Microsporidia disease or disorder" MONDO:0005846 oboInOwl:hasExactSynonym "Microsporidia infectious disease" +MONDO:0005846 oboInOwl:hasExactSynonym "infection by Microspora" MONDO:0005846 oboInOwl:hasExactSynonym "Microsporidia infection" MONDO:0014351 oboInOwl:hasExactSynonym "non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2" MONDO:0014351 oboInOwl:hasExactSynonym "PCH9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -113113,12 +113755,12 @@ GO:0060764 oboInOwl:hasExactSynonym "cell-cell signalling involved in mammary gl SO:0001877 oboInOwl:hasExactSynonym "long non-coding RNA" SO:0001877 oboInOwl:hasExactSynonym "lncRNA_transcript" SO:0001877 oboInOwl:hasExactSynonym "INSDC_qualifier:lncRNA" +MONDO:0014479 oboInOwl:hasExactSynonym "porokeratosis 8, disseminated superficial actinic type" MONDO:0011256 oboInOwl:hasExactSynonym "emphysema, congenital, with deafness, penoscrotal web, and mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0011256 oboInOwl:hasExactSynonym "emphysema, congenital, with deafness, penoscrotal web, and intellectual disability" MONDO:0000688 oboInOwl:hasExactSynonym "rare inborn error of organic acid metabolic process" MONDO:0000688 oboInOwl:hasExactSynonym "inborn error of organic acid metabolic process" MONDO:0000688 oboInOwl:hasExactSynonym "inborn organic acid metabolic process disorder" -MONDO:0014479 oboInOwl:hasExactSynonym "porokeratosis 8, disseminated superficial actinic type" MONDO:0012202 oboInOwl:hasExactSynonym "malaria, mild, susceptibility to" MONDO:0006450 oboInOwl:hasExactSynonym "therapy-related AML and MDS" MONDO:0006450 oboInOwl:hasExactSynonym "acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related" @@ -113131,10 +113773,12 @@ MONDO:0008409 oboInOwl:hasExactSynonym "MYH7-related late-onset scapuloperoneal MONDO:0008409 oboInOwl:hasExactSynonym "MYH7-related late-onset SPMD" MONDO:0009967 oboInOwl:hasExactSynonym "renal tubular acidosis type 3" MONDO:0007533 oboInOwl:hasExactSynonym "elliptocytosis 2" +MONDO:0007533 oboInOwl:hasExactSynonym "elliptocytosis-2" MONDO:0007533 oboInOwl:hasExactSynonym "SPTA1 hereditary elliptocytosis" MONDO:0007533 oboInOwl:hasExactSynonym "hereditary elliptocytosis caused by mutation in SPTA1" MONDO:0007533 oboInOwl:hasExactSynonym "elliptocytosis type 2" MONDO:0008044 oboInOwl:hasExactSynonym "myoclonic dystonia type 11" +MONDO:0008044 oboInOwl:hasExactSynonym "dystonia-11, myoclonic" MONDO:0008044 oboInOwl:hasExactSynonym "alcohol-responsive dystonia" MONDO:0008044 oboInOwl:hasExactSynonym "SGCE myoclonus-dystonia syndrome" MONDO:0008044 oboInOwl:hasExactSynonym "myoclonus-dystonia syndrome caused by mutation in SGCE" @@ -113187,6 +113831,7 @@ MONDO:0001175 oboInOwl:hasExactSynonym "incipient cataract" MONDO:0001175 oboInOwl:hasExactSynonym "incipient senile cataract" MONDO:0001175 oboInOwl:hasExactSynonym "water clefts" MONDO:0014071 oboInOwl:hasExactSynonym "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" +MONDO:0014071 oboInOwl:hasExactSynonym "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11" MONDO:0014071 oboInOwl:hasExactSynonym "B3GALNT2 muscular dystrophy-dystroglycanopathy, type A" MONDO:0014071 oboInOwl:hasExactSynonym "muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2" MONDO:0010127 oboInOwl:hasExactSynonym "hereditary thymoma (disease)" @@ -113252,6 +113897,7 @@ MONDO:0010537 oboInOwl:hasExactSynonym "syndromic X-linked intellectual disabili MONDO:0010537 oboInOwl:hasExactSynonym "Borjeson syndrome" MONDO:0010537 oboInOwl:hasExactSynonym "mental retardation, epilepsy, and endocrine disorder" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010537 oboInOwl:hasExactSynonym "syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010537 oboInOwl:hasExactSynonym "Borjeson-Forssman-Lehmann syndrome, X-linked recessive" MONDO:0010537 oboInOwl:hasExactSynonym "Borjeson-Forssman-Lehmann syndrome" MONDO:0010537 oboInOwl:hasExactSynonym "BFLS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010537 oboInOwl:hasExactSynonym "intellectual deficiency-epilepsy-endocrine disorders syndrome" @@ -113328,17 +113974,17 @@ MONDO:0010129 oboInOwl:hasExactSynonym "thymic-renal-anal-lung dysplasia" MONDO:0015661 oboInOwl:hasExactSynonym "heart predominantly in right hemithorax" MONDO:0015661 oboInOwl:hasExactSynonym "dextrocardia" MONDO:0015661 oboInOwl:hasExactSynonym "dextrocardia (disease)" -MONDO:0006294 oboInOwl:hasExactSynonym "cancer of pleura" +MONDO:0006294 oboInOwl:hasExactSynonym "malignant pleural neoplasm" MONDO:0006294 oboInOwl:hasExactSynonym "cancer of the pleura" +MONDO:0006294 oboInOwl:hasExactSynonym "cancer of pleura" +MONDO:0006294 oboInOwl:hasExactSynonym "malignant tumor of the pleura" MONDO:0006294 oboInOwl:hasExactSynonym "pleura cancer" -MONDO:0006294 oboInOwl:hasExactSynonym "malignant pleural neoplasm" +MONDO:0006294 oboInOwl:hasExactSynonym "malignant tumor of pleura" MONDO:0006294 oboInOwl:hasExactSynonym "malignant pleural tumor" -MONDO:0006294 oboInOwl:hasExactSynonym "malignant neoplasm of pleura" +MONDO:0006294 oboInOwl:hasExactSynonym "malignant neoplasm of the pleura" MONDO:0006294 oboInOwl:hasExactSynonym "malignant pleura neoplasm" -MONDO:0006294 oboInOwl:hasExactSynonym "malignant tumor of pleura" MONDO:0006294 oboInOwl:hasExactSynonym "pleural cancer" -MONDO:0006294 oboInOwl:hasExactSynonym "malignant tumor of the pleura" -MONDO:0006294 oboInOwl:hasExactSynonym "malignant neoplasm of the pleura" +MONDO:0006294 oboInOwl:hasExactSynonym "malignant neoplasm of pleura" MONDO:0009241 oboInOwl:hasExactSynonym "fountain syndrome" MONDO:0009241 oboInOwl:hasExactSynonym "deafness-skeletal dysplasia-coarse face with full lips syndrome" MONDO:0009241 oboInOwl:hasExactSynonym "deafness-skeletal dysplasia-lip granuloma syndrome" @@ -113408,6 +114054,7 @@ MONDO:0003972 oboInOwl:hasExactSynonym "carcinoma of body of stomach" MONDO:0003972 oboInOwl:hasExactSynonym "gastric body carcinoma" MONDO:0003972 oboInOwl:hasExactSynonym "carcinoma of gastric body" MONDO:0012926 oboInOwl:hasExactSynonym "amelogenesis imperfecta hypomaturation type IIA2" +MONDO:0012926 oboInOwl:hasExactSynonym "amelogenesis imperfecta, type IIA2" MONDO:0012926 oboInOwl:hasExactSynonym "amelogenesis imperfecta type IIA2" MONDO:0012926 oboInOwl:hasExactSynonym "AI2A2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012926 oboInOwl:hasExactSynonym "MMP20 amelogenesis imperfecta" @@ -113457,13 +114104,6 @@ MONDO:0012025 oboInOwl:hasExactSynonym "branchiootic syndrome 3" MONDO:0012025 oboInOwl:hasExactSynonym "branchiootic syndrome type 3" MONDO:0012025 oboInOwl:hasExactSynonym "branchiootic syndrome caused by mutation in SIX1" MONDO:0012025 oboInOwl:hasExactSynonym "SIX1 branchiootic syndrome" -MONDO:0009670 oboInOwl:hasExactSynonym "LCCS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009670 oboInOwl:hasExactSynonym "lethal congenital contracture syndrome type 1" -MONDO:0009670 oboInOwl:hasExactSynonym "multiple contracture syndrome, Finnish type" -MONDO:0009670 oboInOwl:hasExactSynonym "GLE1 lethal congenital contracture syndrome" -MONDO:0009670 oboInOwl:hasExactSynonym "lethal congenital contracture syndrome 1" -MONDO:0009670 oboInOwl:hasExactSynonym "Herva disease" -MONDO:0009670 oboInOwl:hasExactSynonym "lethal congenital contracture syndrome caused by mutation in GLE1" MONDO:0003159 oboInOwl:hasExactSynonym "disorders, vascular hemostatic" MONDO:0003159 oboInOwl:hasExactSynonym "disorder, vascular hemostatic" MONDO:0003159 oboInOwl:hasExactSynonym "hemostatic disorder, vascular" @@ -113471,6 +114111,13 @@ MONDO:0003159 oboInOwl:hasExactSynonym "hemostatic disorders, vascular" MONDO:0003159 oboInOwl:hasExactSynonym "vascular hemostatic disorder" MONDO:0003159 oboInOwl:hasExactSynonym "hemostatic disorder" MONDO:0003159 oboInOwl:hasExactSynonym "vascular hemostatic disorders" +MONDO:0009670 oboInOwl:hasExactSynonym "LCCS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009670 oboInOwl:hasExactSynonym "lethal congenital contracture syndrome type 1" +MONDO:0009670 oboInOwl:hasExactSynonym "multiple contracture syndrome, Finnish type" +MONDO:0009670 oboInOwl:hasExactSynonym "GLE1 lethal congenital contracture syndrome" +MONDO:0009670 oboInOwl:hasExactSynonym "lethal congenital contracture syndrome 1" +MONDO:0009670 oboInOwl:hasExactSynonym "Herva disease" +MONDO:0009670 oboInOwl:hasExactSynonym "lethal congenital contracture syndrome caused by mutation in GLE1" MONDO:0013669 oboInOwl:hasExactSynonym "RAD51D hereditary breast ovarian cancer syndrome" MONDO:0013669 oboInOwl:hasExactSynonym "breast-ovarian cancer, familial, susceptibility to, type 4" MONDO:0013669 oboInOwl:hasExactSynonym "hereditary breast ovarian cancer syndrome caused by mutation in RAD51D" @@ -113497,11 +114144,13 @@ ECTO:4000003 oboInOwl:hasExactSynonym "exposure to decreased amount in salt" MONDO:0002280 oboInOwl:hasExactSynonym "anaemia" MONDO:0002280 oboInOwl:hasExactSynonym "anemia" MONDO:0002280 oboInOwl:hasExactSynonym "anemia (disease)" +MONDO:0024552 oboInOwl:hasExactSynonym "linear skin defects with multiple congenital anomalies 1, X-linked dominant" MONDO:0024552 oboInOwl:hasExactSynonym "microphthalmia with linear skin defects syndrome caused by mutation in HCCS" MONDO:0024552 oboInOwl:hasExactSynonym "HCCS microphthalmia with linear skin defects syndrome" MONDO:0024552 oboInOwl:hasExactSynonym "linear skin defects with multiple congenital anomalies 1" MONDO:0010067 oboInOwl:hasExactSynonym "splenoportal vascular anomalies" MONDO:0007930 oboInOwl:hasExactSynonym "BSSA2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007930 oboInOwl:hasExactSynonym "Bernard-Soulier syndrome, type A2 (dominant)" MONDO:0007930 oboInOwl:hasExactSynonym "Bernard-Soulier syndrome, type A2, autosomal dominant" MONDO:0013466 oboInOwl:hasExactSynonym "orofacial cleft 13" MONDO:0013466 oboInOwl:hasExactSynonym "OFC13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -113640,9 +114289,9 @@ MONDO:0042487 oboInOwl:hasExactSynonym "stage 0 cervical cancer" MONDO:0042487 oboInOwl:hasExactSynonym "carcinoma in situ of cervix uteri aJCC v6" MONDO:0042487 oboInOwl:hasExactSynonym "intraepithelial neoplasia of the cervix uteri grade 3 aJCC v6" MONDO:0042487 oboInOwl:hasExactSynonym "grade 3 cervical intraepithelial neoplasia aJCC v6" -MONDO:0042487 oboInOwl:hasExactSynonym "uterine cervix Severe dysplasia aJCC v6" MONDO:0042487 oboInOwl:hasExactSynonym "CIN III" MONDO:0042487 oboInOwl:hasExactSynonym "FIGO stage 0 carcinoma of cervix" +MONDO:0042487 oboInOwl:hasExactSynonym "uterine cervix Severe dysplasia aJCC v6" MONDO:0042487 oboInOwl:hasExactSynonym "cervical intraepithelial neoplasia grade III with severe dysplasia" MONDO:0042487 oboInOwl:hasExactSynonym "carcinoma in situ of uterine cervix" MONDO:0042487 oboInOwl:hasExactSynonym "stage 0 uterine cervix carcinoma" @@ -113665,8 +114314,8 @@ MONDO:0042487 oboInOwl:hasExactSynonym "uterine cervix intraepithelial neoplasia MONDO:0042487 oboInOwl:hasExactSynonym "cervix Severe dysplasia aJCC v6" MONDO:0042487 oboInOwl:hasExactSynonym "intraepithelial neoplasia of cervix grade 3 aJCC v6" MONDO:0042487 oboInOwl:hasExactSynonym "FIGO stage 0 carcinoma of the uterine cervix" -MONDO:0042487 oboInOwl:hasExactSynonym "cervical carcinoma in situ aJCC v6" MONDO:0042487 oboInOwl:hasExactSynonym "carcinoma in situ of the cervix uteri aJCC v6" +MONDO:0042487 oboInOwl:hasExactSynonym "cervical carcinoma in situ aJCC v6" MONDO:0042487 oboInOwl:hasExactSynonym "carcinoma in situ of cervix" MONDO:0042487 oboInOwl:hasExactSynonym "FIGO stage 0 carcinoma of cervix uteri" HP:0030082 oboInOwl:hasExactSynonym "Abnormal drinking behaviour" http://purl.obolibrary.org/obo/hp.obo#uk_spelling @@ -113773,6 +114422,7 @@ MONDO:0009493 oboInOwl:hasExactSynonym "ketoaciduria-intellectual disability-ata MONDO:0020796 oboInOwl:hasExactSynonym "SRS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010590 oboInOwl:hasExactSynonym "FG syndrome caused by mutation in MED12" MONDO:0010590 oboInOwl:hasExactSynonym "FG syndrome 1" +MONDO:0010590 oboInOwl:hasExactSynonym "Opitz-Kaveggia syndrome, X-linked recessive" MONDO:0010590 oboInOwl:hasExactSynonym "MED12 FG syndrome" MONDO:0009408 oboInOwl:hasExactSynonym "hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase" HP:0011442 oboInOwl:hasExactSynonym "Abnormality of central motor function" @@ -113823,9 +114473,10 @@ MONDO:0005682 oboInOwl:hasExactSynonym "chest infection - unspecified bronchopne MONDO:0005682 oboInOwl:hasExactSynonym "chest infection - bronchopneumonia" MONDO:0005682 oboInOwl:hasExactSynonym "lobular pneumonia" MONDO:0005682 oboInOwl:hasExactSynonym "bronchial pneumonia" +MONDO:0029138 oboInOwl:hasExactSynonym "DEE67" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0029138 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 67" MONDO:0029138 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 67" MONDO:0029138 oboInOwl:hasExactSynonym "EIEE67" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0029138 oboInOwl:hasExactSynonym "DEE67" http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP:0000370 oboInOwl:hasExactSynonym "Middle ear abnormality" HP:0000370 oboInOwl:hasExactSynonym "Middle ear abnormalities" MONDO:0020178 oboInOwl:hasExactSynonym "skin of eyelid lentigo" @@ -113856,19 +114507,19 @@ MONDO:0008996 oboInOwl:hasExactSynonym "gentile syndrome" MONDO:0008996 oboInOwl:hasExactSynonym "cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis" MONDO:0008996 oboInOwl:hasExactSynonym "JS-H" PATO:0002011 oboInOwl:hasExactSynonym "tumorous" -MONDO:0013234 oboInOwl:hasExactSynonym "hypokalemic periodic paralysis, type 2" MONDO:0010011 oboInOwl:hasExactSynonym "schizencephaly" +MONDO:0013234 oboInOwl:hasExactSynonym "hypokalemic periodic paralysis, type 2" MONDO:0014792 oboInOwl:hasExactSynonym "PDB6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014792 oboInOwl:hasExactSynonym "Paget disease of bone 6; PDB6" MONDO:0014792 oboInOwl:hasExactSynonym "Paget disease of bone 6" MONDO:0014792 oboInOwl:hasExactSynonym "Paget disease of bone type 6" -MONDO:0012211 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type If" MONDO:0012211 oboInOwl:hasExactSynonym "CDGIf" +MONDO:0012211 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type 1f" MONDO:0012211 oboInOwl:hasExactSynonym "carbohydrate deficient glycoprotein syndrome type If" -MONDO:0012211 oboInOwl:hasExactSynonym "CDG-If" -MONDO:0012211 oboInOwl:hasExactSynonym "CDG1F" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012211 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type If" MONDO:0012211 oboInOwl:hasExactSynonym "CDG syndrome type If" -MONDO:0012211 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type 1f" +MONDO:0012211 oboInOwl:hasExactSynonym "CDG1F" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012211 oboInOwl:hasExactSynonym "CDG-If" MONDO:0018373 oboInOwl:hasExactSynonym "AVN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018373 oboInOwl:hasExactSynonym "avascular necrosis of bone" MONDO:0001427 oboInOwl:hasExactSynonym "Dieulafoy lesion (hemorrhagic) of intestine" @@ -113879,10 +114530,10 @@ MONDO:0016736 oboInOwl:hasExactSynonym "rosette-forming glioneuronal tumor" MONDO:0016736 oboInOwl:hasExactSynonym "dysembryoplastic neuroepithelial tumor of cerebellum" MONDO:0013836 oboInOwl:hasExactSynonym "coenzyme Q10 deficiency, primary, type 6" HP:0004377 oboInOwl:hasExactSynonym "Haematological neoplasm" http://purl.obolibrary.org/obo/hp.obo#uk_spelling -MONDO:0018936 oboInOwl:hasExactSynonym "osteoblastoma" -MONDO:0018936 oboInOwl:hasExactSynonym "ossifying giant cell tumor" -MONDO:0018936 oboInOwl:hasExactSynonym "osteoblastoma, benign" MONDO:0018936 oboInOwl:hasExactSynonym "giant osteoid osteoma" +MONDO:0018936 oboInOwl:hasExactSynonym "osteoblastoma, benign" +MONDO:0018936 oboInOwl:hasExactSynonym "ossifying giant cell tumor" +MONDO:0018936 oboInOwl:hasExactSynonym "osteoblastoma" MONDO:0018936 oboInOwl:hasExactSynonym "osteoblastoma (disease)" MONDO:0044792 oboInOwl:hasExactSynonym "congenital melanocytic Nevus of skin" MONDO:0044792 oboInOwl:hasExactSynonym "Giant pigmented hairy nevus" @@ -113898,8 +114549,10 @@ MONDO:0044792 oboInOwl:hasExactSynonym "congenital pigmented Nevus of the skin" MONDO:0044792 oboInOwl:hasExactSynonym "congenital Nevus of skin" MONDO:0044792 oboInOwl:hasExactSynonym "congenital Nevus of the skin" MONDO:0044792 oboInOwl:hasExactSynonym "GMN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0044792 oboInOwl:hasExactSynonym "melanocytic nevus syndrome, congenital, somatic" MONDO:0044792 oboInOwl:hasExactSynonym "congenital skin Nevus" MONDO:0044792 oboInOwl:hasExactSynonym "congenital pigmented skin Nevus" +MONDO:0044792 oboInOwl:hasExactSynonym "spitz nevus or nevus spilus, somatic" MONDO:0013613 oboInOwl:hasExactSynonym "Leber congenital amaurosis caused by mutation in KCNJ13" MONDO:0013613 oboInOwl:hasExactSynonym "Leber congenital amaurosis type 16" MONDO:0013613 oboInOwl:hasExactSynonym "KCNJ13 Leber congenital amaurosis" @@ -113910,6 +114563,7 @@ MONDO:0011452 oboInOwl:hasExactSynonym "LIPH hypotrichosis" MONDO:0011452 oboInOwl:hasExactSynonym "hypotrichosis type 7" MONDO:0011452 oboInOwl:hasExactSynonym "total Mari type hypotrichosis," MONDO:0011452 oboInOwl:hasExactSynonym "hypotrichosis 7" +MONDO:0011452 oboInOwl:hasExactSynonym "woolly hair, autosomal recessive 2 with or without hypotrichosis" MONDO:0011452 oboInOwl:hasExactSynonym "hypotrichosis caused by mutation in LIPH" MONDO:0011452 oboInOwl:hasExactSynonym "HYPT7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011452 oboInOwl:hasExactSynonym "hypotrichosis, localized, autosomal recessive 2" @@ -113951,12 +114605,15 @@ MONDO:0002868 oboInOwl:hasExactSynonym "bile duct cystadenocarcinoma (morphologi MONDO:0002868 oboInOwl:hasExactSynonym "bile duct mucinous cystic neoplasm with an associated invasive carcinoma" MONDO:0002868 oboInOwl:hasExactSynonym "cystadenocarcinoma of the bile duct" MONDO:0003942 oboInOwl:hasExactSynonym "eosinophilic variant of chromophobe renal cell carcinoma" +MONDO:0012854 oboInOwl:hasExactSynonym "microtia with or without hearing impairment (AD)" +MONDO:0012854 oboInOwl:hasExactSynonym "microtia, hearing impairment, and cleft palate (AR)" MONDO:0017318 oboInOwl:hasExactSynonym "port-wine stain with oculocutaneous melanosis" MONDO:0017318 oboInOwl:hasExactSynonym "phakomatosis pigmentovascularis" MONDO:0015044 oboInOwl:hasExactSynonym "mu-HCD" MONDO:0015044 oboInOwl:hasExactSynonym "mu chain disease" MONDO:0015044 oboInOwl:hasExactSynonym "mu heavy chain disease" MONDO:0010440 oboInOwl:hasExactSynonym "autism, susceptibility to, X-linked 4" +MONDO:0010440 oboInOwl:hasExactSynonym "autism, susceptibility to, X-linked 4, X-linked recessive" MONDO:0010440 oboInOwl:hasExactSynonym "autism, susceptibility to, X-linked type 4" GO:0006119 oboInOwl:hasExactSynonym "respiratory-chain phosphorylation" MONDO:0024357 oboInOwl:hasExactSynonym "drug induced central sleep apnea" @@ -114015,6 +114672,9 @@ MONDO:0007735 oboInOwl:hasExactSynonym "congenital Horner syndrome (disease)" MONDO:0007735 oboInOwl:hasExactSynonym "congenital Claude-Bernard-Horner syndrome" MONDO:0007735 oboInOwl:hasExactSynonym "congenital Horner syndrome" NCBITaxon:6029 oboInOwl:hasExactSynonym "microsporidians" http://purl.obolibrary.org/obo/ncbitaxon#common_name +MONDO:0044224 oboInOwl:hasExactSynonym "earwax, wet/dry" +MONDO:0044224 oboInOwl:hasExactSynonym "colostrum secretion, variation in" +MONDO:0044224 oboInOwl:hasExactSynonym "axillary odor, variation in" NCBITaxon:10405 oboInOwl:hasExactSynonym "mammalian hepatitis B-type viruses" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name MONDO:0018163 oboInOwl:hasExactSynonym "cutis laxa with congenital disorder of glycosylation" MONDO:0018163 oboInOwl:hasExactSynonym "autosomal recessive cutis laxa type 2A" @@ -114113,8 +114773,8 @@ MONDO:0001763 oboInOwl:hasExactSynonym "malignant ethmoid sinus neoplasm" MONDO:0001763 oboInOwl:hasExactSynonym "malignant neoplasm of ethmoid sinus" MONDO:0001763 oboInOwl:hasExactSynonym "malignant tumor of ethmoidal sinus" MONDO:0001763 oboInOwl:hasExactSynonym "malignant tumor of the ethmoidal sinus" -MONDO:0001763 oboInOwl:hasExactSynonym "malignant neoplasm of the ethmoid sinus" MONDO:0001763 oboInOwl:hasExactSynonym "malignant neoplasm of the ethmoidal sinus" +MONDO:0001763 oboInOwl:hasExactSynonym "malignant neoplasm of the ethmoid sinus" MONDO:0001763 oboInOwl:hasExactSynonym "ethmoid sinus cancer" MONDO:0001763 oboInOwl:hasExactSynonym "cancer of ethmoid sinus" MONDO:0001763 oboInOwl:hasExactSynonym "malignant tumor of ethmoid sinus" @@ -114155,6 +114815,7 @@ HP:0002354 oboInOwl:hasExactSynonym "Memory loss" http://purl.obolibrary.org/obo NCBITaxon:1392 oboInOwl:hasExactSynonym "anthrax bacterium" http://purl.obolibrary.org/obo/ncbitaxon#common_name NCBITaxon:1392 oboInOwl:hasExactSynonym "anthrax" http://purl.obolibrary.org/obo/ncbitaxon#common_name NCBITaxon:12103 oboInOwl:hasExactSynonym "Cardioviruses" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name +MONDO:0020740 oboInOwl:hasExactSynonym "ectodermal dysplasia and immunodeficiency 1, X-linked recessive" MONDO:0020740 oboInOwl:hasExactSynonym "EDAID1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCBITaxon:7952 oboInOwl:hasExactSynonym "carps and others" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name GO:0003071 oboInOwl:hasExactSynonym "renal regulation of systemic arterial blood pressure" @@ -114163,10 +114824,12 @@ MONDO:0019570 oboInOwl:hasExactSynonym "Cockayne syndrome type 2" MONDO:0019570 oboInOwl:hasExactSynonym "Cockayne syndrome type B" MONDO:0019570 oboInOwl:hasExactSynonym "Cockayne syndrome type II" MONDO:0019570 oboInOwl:hasExactSynonym "Cockayne syndrome B" +MONDO:0019570 oboInOwl:hasExactSynonym "Cockayne syndrome, type B" MONDO:0013039 oboInOwl:hasExactSynonym "three M syndrome 2" MONDO:0013039 oboInOwl:hasExactSynonym "OBSL1 3-M syndrome" MONDO:0013039 oboInOwl:hasExactSynonym "3-M syndrome caused by mutation in OBSL1" MONDO:0013039 oboInOwl:hasExactSynonym "three M syndrome type 2" +MONDO:0013039 oboInOwl:hasExactSynonym "3-M syndrome 2" MONDO:0013039 oboInOwl:hasExactSynonym "3M syndrome 2" MONDO:0014597 oboInOwl:hasExactSynonym "IRF7 primary immunodeficiency disease" MONDO:0014597 oboInOwl:hasExactSynonym "immunodeficiency 39" @@ -114224,9 +114887,10 @@ MONDO:0006451 oboInOwl:hasExactSynonym "thymoma, malignant" MONDO:0006451 oboInOwl:hasExactSynonym "thymus carcinoma" MONDO:0006451 oboInOwl:hasExactSynonym "carcinoma of thymus" MONDO:0006451 oboInOwl:hasExactSynonym "thymic carcinoma (excluding well differentiated thymic carcinoma)" -MONDO:0009968 oboInOwl:hasExactSynonym "distal renal tubular acidosis co-occurrent with sensorineural deafness" +MONDO:0009968 oboInOwl:hasExactSynonym "distal renal tubular acidosis 2 with progressive sensorineural hearing loss" MONDO:0009968 oboInOwl:hasExactSynonym "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss" MONDO:0009968 oboInOwl:hasExactSynonym "renal tubular acidosis, distal, with progressive nerve deafness" +MONDO:0009968 oboInOwl:hasExactSynonym "distal renal tubular acidosis co-occurrent with sensorineural deafness" MONDO:0008881 oboInOwl:hasExactSynonym "kyphomelic dysplasia" MONDO:0014206 oboInOwl:hasExactSynonym "hereditary pulmonary alveolar proteinosis with hepatic involvement" MONDO:0014206 oboInOwl:hasExactSynonym "PAP, Reunion island type" @@ -114240,13 +114904,13 @@ MONDO:0013436 oboInOwl:hasExactSynonym "retinitis pigmentosa 39" MONDO:0021019 oboInOwl:hasExactSynonym "ocular albinism, Nettleship-Falls type" MONDO:0021019 oboInOwl:hasExactSynonym "ocular albinism type 1" MONDO:0021019 oboInOwl:hasExactSynonym "XLOA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0021019 oboInOwl:hasExactSynonym "ocular albinism, type I, Nettleship-Falls type" MONDO:0021019 oboInOwl:hasExactSynonym "OA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0021019 oboInOwl:hasExactSynonym "Nettleship-Falls syndrome" GO:0032387 oboInOwl:hasExactSynonym "downregulation of intracellular transport" GO:0032387 oboInOwl:hasExactSynonym "down-regulation of intracellular transport" GO:0032387 oboInOwl:hasExactSynonym "down regulation of intracellular transport" PATO:0001987 oboInOwl:hasExactSynonym "sacular" -MONDO:0017184 oboInOwl:hasExactSynonym "autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency" MONDO:0010735 oboInOwl:hasExactSynonym "Kennedy's disease" MONDO:0010735 oboInOwl:hasExactSynonym "spinal bulbar muscular atrophy" MONDO:0010735 oboInOwl:hasExactSynonym "X-linked bulbospinal amyotrophy" @@ -114256,9 +114920,11 @@ MONDO:0010735 oboInOwl:hasExactSynonym "X-linked spinal and bulbar muscular atro MONDO:0010735 oboInOwl:hasExactSynonym "X-linked bulbo-spinal atrophy" MONDO:0010735 oboInOwl:hasExactSynonym "SBMA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010735 oboInOwl:hasExactSynonym "spinal and bulbar muscular atrophy, X-linked type 1" +MONDO:0010735 oboInOwl:hasExactSynonym "spinal and bulbar muscular atrophy of Kennedy, X-linked recessive" MONDO:0010735 oboInOwl:hasExactSynonym "Kennedy disease" MONDO:0010735 oboInOwl:hasExactSynonym "X-linked BSMA" MONDO:0010735 oboInOwl:hasExactSynonym "X-linked bulbospinal muscular atrophy" +MONDO:0017184 oboInOwl:hasExactSynonym "autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency" MONDO:0012309 oboInOwl:hasExactSynonym "ALX4 parietal foramina" MONDO:0012309 oboInOwl:hasExactSynonym "parietal foramina type 2" MONDO:0012309 oboInOwl:hasExactSynonym "parietal foramina 2" @@ -114320,6 +114986,7 @@ MONDO:0009805 oboInOwl:hasExactSynonym "osteogenesis imperfecta type 9" MONDO:0010245 oboInOwl:hasExactSynonym "X-linked cone-rod dystrophy type 2" MONDO:0010245 oboInOwl:hasExactSynonym "cone dystrophy 2, X-linked" MONDO:0010245 oboInOwl:hasExactSynonym "CORDX2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010245 oboInOwl:hasExactSynonym "cone dystrophy, progressive X-linked, 2" MONDO:0010245 oboInOwl:hasExactSynonym "COD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010245 oboInOwl:hasExactSynonym "cone-rod dystrophy, X-linked, 2" MONDO:0010245 oboInOwl:hasExactSynonym "cone dystrophy X-linked 2" @@ -114342,6 +115009,7 @@ MONDO:0013644 oboInOwl:hasExactSynonym "DYNC1H1 Charcot-Marie-Tooth disease" MONDO:0013644 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy axonal type 2O" MONDO:0013644 oboInOwl:hasExactSynonym "autosomal dominant Charcot-Marie-Tooth disease type 2O" MONDO:0013644 oboInOwl:hasExactSynonym "autosomal dominant axonal Charcot-Marie-Tooth disease type 2O" +MONDO:0013644 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, axonal, type 20" MONDO:0007892 oboInOwl:hasExactSynonym "Lenz-Majewski hyperostotic dwarfism" MONDO:0009053 oboInOwl:hasExactSynonym "Delta-1-pyrroline 5-carboxylate synthetase deficiency" MONDO:0009053 oboInOwl:hasExactSynonym "neurocutaneous syndrome, Bicknell type" @@ -114384,8 +115052,8 @@ GO:0046929 oboInOwl:hasExactSynonym "down regulation of neurotransmitter secreti GO:0046929 oboInOwl:hasExactSynonym "downregulation of neurotransmitter secretion" MONDO:0018469 oboInOwl:hasExactSynonym "non-tuberculous mycobacterial lung disease" MONDO:0013865 oboInOwl:hasExactSynonym "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" -MONDO:0013865 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency caused by mutation in MTO1" MONDO:0013865 oboInOwl:hasExactSynonym "MTO1 combined oxidative phosphorylation deficiency" +MONDO:0013865 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency caused by mutation in MTO1" MONDO:0013865 oboInOwl:hasExactSynonym "COXPD10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013865 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency type 10" MONDO:0013865 oboInOwl:hasExactSynonym "combined oxidative phosphorylation defect type 10" @@ -114400,6 +115068,7 @@ MONDO:0015942 oboInOwl:hasExactSynonym "frontometaphyseal dysplasia" MONDO:0012290 oboInOwl:hasExactSynonym "CEDNIK syndrome" MONDO:0012290 oboInOwl:hasExactSynonym "cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome" MONDO:0012290 oboInOwl:hasExactSynonym "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome" +MONDO:0100213 oboInOwl:hasExactSynonym "IFAP syndrome with or without BRESHECK syndrome, X-linked recessive" MONDO:0100213 oboInOwl:hasExactSynonym "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia" MONDO:0100213 oboInOwl:hasExactSynonym "ichthyosis follicularis-atrichia-photophobia syndrome" MONDO:0100213 oboInOwl:hasExactSynonym "IFAP/BRESHECK syndrome" @@ -114422,6 +115091,7 @@ MONDO:0014930 oboInOwl:hasExactSynonym "intellectual disability, autosomal reces MONDO:0014930 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 56" MONDO:0014930 oboInOwl:hasExactSynonym "autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14" MONDO:0014930 oboInOwl:hasExactSynonym "ZC3H14 autosomal recessive non-syndromic intellectual disability" +MONDO:0014930 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 56" MONDO:0014930 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 56" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0021540 oboInOwl:hasExactSynonym "lung hamartoma (disease)" MONDO:0021540 oboInOwl:hasExactSynonym "lung hamartoma" @@ -114431,9 +115101,11 @@ MONDO:0021540 oboInOwl:hasExactSynonym "pulmonary hamartoma" MONDO:0008510 oboInOwl:hasExactSynonym "symphalangism with multiple anomalies of hands and feet" MONDO:0008510 oboInOwl:hasExactSynonym "Learman syndrome" MONDO:0012173 oboInOwl:hasExactSynonym "long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency" +MONDO:0012173 oboInOwl:hasExactSynonym "HELLP syndrome, maternal, of pregnancy" MONDO:0012173 oboInOwl:hasExactSynonym "LCHAD deficiency" MONDO:0012173 oboInOwl:hasExactSynonym "LCHADD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012173 oboInOwl:hasExactSynonym "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency" +MONDO:0012173 oboInOwl:hasExactSynonym "fatty liver, acute, of pregnancy" MONDO:0002166 oboInOwl:hasExactSynonym "lymphoma of the rectum" MONDO:0002166 oboInOwl:hasExactSynonym "rectal lymphoma" MONDO:0002166 oboInOwl:hasExactSynonym "primary rectal lymphoma" @@ -114530,12 +115202,13 @@ MONDO:0020595 oboInOwl:hasExactSynonym "disease or disorder of retroperitoneal s MONDO:0020595 oboInOwl:hasExactSynonym "retroperitoneal disorder" MONDO:0021637 oboInOwl:hasExactSynonym "low grade glioma" MONDO:0021637 oboInOwl:hasExactSynonym "low-grade glioma" +MONDO:0011780 oboInOwl:hasExactSynonym "specific language impairment QTL, 3" +MONDO:0011780 oboInOwl:hasExactSynonym "SLI3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011780 oboInOwl:hasExactSynonym "specific language impairment 3" MONDO:0001130 oboInOwl:hasExactSynonym "lymphoma of the nasal cavity" MONDO:0001130 oboInOwl:hasExactSynonym "nasal cavity lymphoma" MONDO:0001130 oboInOwl:hasExactSynonym "lymphoma of nasal cavity" MONDO:0001130 oboInOwl:hasExactSynonym "primary nasal cavity lymphoma" -MONDO:0011780 oboInOwl:hasExactSynonym "SLI3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011780 oboInOwl:hasExactSynonym "specific language impairment 3" MONDO:0007033 oboInOwl:hasExactSynonym "cranial nerve palsy of abducens nerve" MONDO:0007033 oboInOwl:hasExactSynonym "abducent nerve paralysis" MONDO:0007033 oboInOwl:hasExactSynonym "disorder of abducent nerve" @@ -114544,8 +115217,8 @@ MONDO:0007033 oboInOwl:hasExactSynonym "abducens nerve weakness" MONDO:0007033 oboInOwl:hasExactSynonym "VIth nerve paralysis" MONDO:0007033 oboInOwl:hasExactSynonym "abducens nerve cranial nerve palsy" MONDO:0007033 oboInOwl:hasExactSynonym "sixth nerve paralysis" -MONDO:0007033 oboInOwl:hasExactSynonym "sixth or abducens nerve palsy" MONDO:0007033 oboInOwl:hasExactSynonym "lateral rectus muscle denervation paresis" +MONDO:0007033 oboInOwl:hasExactSynonym "sixth or abducens nerve palsy" MONDO:0007033 oboInOwl:hasExactSynonym "sixth cranial nerve disorder" MONDO:0007033 oboInOwl:hasExactSynonym "sixth nerve palsy" MONDO:0006920 oboInOwl:hasExactSynonym "prediabetic state" @@ -114569,6 +115242,7 @@ MONDO:0006295 oboInOwl:hasExactSynonym "urinary system cancer" MONDO:0006295 oboInOwl:hasExactSynonym "malignant urinary tract neoplasm" HP:0001718 oboInOwl:hasExactSynonym "Mitral valve stenosis" MONDO:0018319 oboInOwl:hasExactSynonym "FEPS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0018790 oboInOwl:hasExactSynonym "COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy" MONDO:0001586 oboInOwl:hasExactSynonym "iduronidase deficiency disease" MONDO:0001586 oboInOwl:hasExactSynonym "Alpha-L-iduronidase deficiency" MONDO:0001586 oboInOwl:hasExactSynonym "Hurler syndrome" @@ -114580,7 +115254,6 @@ MONDO:0001586 oboInOwl:hasExactSynonym "MPSI" http://purl.obolibrary.org/obo/mon MONDO:0001586 oboInOwl:hasExactSynonym "mucopolysaccharidosis type 1" MONDO:0001586 oboInOwl:hasExactSynonym "mucopolysaccharidosis, type 1" MONDO:0001586 oboInOwl:hasExactSynonym "mucopolysaccharidosis type I" -MONDO:0018790 oboInOwl:hasExactSynonym "COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy" MONDO:0008113 oboInOwl:hasExactSynonym "hypotelorism-cleft palate-hypospadias syndrome" MONDO:0008113 oboInOwl:hasExactSynonym "BRSS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008113 oboInOwl:hasExactSynonym "Schilbach-Rott syndrome" @@ -114603,6 +115276,7 @@ MONDO:0100448 oboInOwl:hasExactSynonym "RAB28 retinopathy" NCBITaxon:12663 oboInOwl:hasExactSynonym "Feline enteric coronavirus FECV" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:12663 oboInOwl:hasExactSynonym "Feline enteric coronavirus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name MONDO:0012719 oboInOwl:hasExactSynonym "combined prosaposin deficiency" +MONDO:0032688 oboInOwl:hasExactSynonym "polymicrogyria with or without vascular-type EDS" MONDO:0009515 oboInOwl:hasExactSynonym "lecithin acyltransferase deficiency" MONDO:0009515 oboInOwl:hasExactSynonym "lecithin:cholesterol acyltransferase deficiency" MONDO:0009515 oboInOwl:hasExactSynonym "complete LCAT deficiency" @@ -114621,6 +115295,7 @@ ENVO:01000268 oboInOwl:hasExactSynonym "atmospheric water vapor" MONDO:0010937 oboInOwl:hasExactSynonym "isoproterenol-mediated vasodilatation" MONDO:0019666 oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia, Pakistani type" MONDO:0019666 oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia Pakistani type" +MONDO:0019666 oboInOwl:hasExactSynonym "brachyolmia 4 with mild epiphyseal and metaphyseal changes" MONDO:0020950 oboInOwl:hasExactSynonym "viral eye infection" MONDO:0001802 oboInOwl:hasExactSynonym "acute myringitis" MONDO:0000633 oboInOwl:hasExactSynonym "sense organ benign neoplasm" @@ -114632,8 +115307,8 @@ MONDO:0006536 oboInOwl:hasExactSynonym "lipodystrophy, congenital generalized" MONDO:0006536 oboInOwl:hasExactSynonym "congenital generalized lipodystrophy" MONDO:0006536 oboInOwl:hasExactSynonym "hereditary generalized lipodystrophy" MONDO:0006536 oboInOwl:hasExactSynonym "congenital generalized lipodystrophy (disease)" -MONDO:0009912 oboInOwl:hasExactSynonym "prolactin deficiency with obesity and enlarged testes" HP:0000668 oboInOwl:hasExactSynonym "Failure of development of between one and six teeth" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0009912 oboInOwl:hasExactSynonym "prolactin deficiency with obesity and enlarged testes" MONDO:0018039 oboInOwl:hasExactSynonym "selective IgM deficiency disease" MONDO:0018039 oboInOwl:hasExactSynonym "selective immunoglobulin M deficiency" MONDO:0017926 oboInOwl:hasExactSynonym "multiple paragangliomas associated with erythrocytosis" @@ -114684,6 +115359,7 @@ MONDO:0016914 oboInOwl:hasExactSynonym "partial deletion of chromosome 16q" MONDO:0016914 oboInOwl:hasExactSynonym "partial monosomy of the long arm of chromosome 16" MONDO:0001365 oboInOwl:hasExactSynonym "partial loss or necrosis of ear ossicles" MONDO:0003218 oboInOwl:hasExactSynonym "adenocarcinoma in situ" +MONDO:0009103 oboInOwl:hasExactSynonym "hernia, congenital diaphragmatic 2" MONDO:0009103 oboInOwl:hasExactSynonym "diaphragmatic hernia 2" MONDO:0014157 oboInOwl:hasExactSynonym "mandibular hypoplasia-hearing loss-progeroid syndrome" MONDO:0014157 oboInOwl:hasExactSynonym "MDP syndrome" @@ -114727,6 +115403,14 @@ GO:0032413 oboInOwl:hasExactSynonym "downregulation of ion transporter activity" GO:0032413 oboInOwl:hasExactSynonym "down regulation of ion transporter activity" CHEBI:33888 oboInOwl:hasExactSynonym "cobalt molecular entity" MONDO:0001436 oboInOwl:hasExactSynonym "haemosiderosis" +MONDO:0007339 oboInOwl:hasExactSynonym "blepharo-cheilo-odontic syndrome" +MONDO:0007339 oboInOwl:hasExactSynonym "ectropion inferior-cleft lip and or palate syndrome" +MONDO:0007339 oboInOwl:hasExactSynonym "clefting-ectropion-conical teeth syndrome" +MONDO:0007339 oboInOwl:hasExactSynonym "blepharocheilodontic syndrome" +MONDO:0007339 oboInOwl:hasExactSynonym "Elsching syndrome" +MONDO:0007339 oboInOwl:hasExactSynonym "ectropion inferior-cleft lip and/or palate syndrome" +MONDO:0007339 oboInOwl:hasExactSynonym "lagophthalmia-cleft lip and palate syndrome" +MONDO:0007339 oboInOwl:hasExactSynonym "BCD syndrome" MONDO:0003405 oboInOwl:hasExactSynonym "germ cell tumor of adult central nervous system" MONDO:0003405 oboInOwl:hasExactSynonym "germ cell tumor of the adult central nervous system" MONDO:0003405 oboInOwl:hasExactSynonym "germ cell tumor of adult CNS" @@ -114740,20 +115424,13 @@ MONDO:0003405 oboInOwl:hasExactSynonym "adult CNS germ cell tumor" MONDO:0003405 oboInOwl:hasExactSynonym "germ cell tumor of the adult CNS" MONDO:0003405 oboInOwl:hasExactSynonym "germ cell neoplasm of adult CNS" MONDO:0003405 oboInOwl:hasExactSynonym "adult central nervous system germ cell neoplasm" -MONDO:0007339 oboInOwl:hasExactSynonym "blepharo-cheilo-odontic syndrome" -MONDO:0007339 oboInOwl:hasExactSynonym "ectropion inferior-cleft lip and or palate syndrome" -MONDO:0007339 oboInOwl:hasExactSynonym "clefting-ectropion-conical teeth syndrome" -MONDO:0007339 oboInOwl:hasExactSynonym "blepharocheilodontic syndrome" -MONDO:0007339 oboInOwl:hasExactSynonym "Elsching syndrome" -MONDO:0007339 oboInOwl:hasExactSynonym "ectropion inferior-cleft lip and/or palate syndrome" -MONDO:0007339 oboInOwl:hasExactSynonym "lagophthalmia-cleft lip and palate syndrome" -MONDO:0007339 oboInOwl:hasExactSynonym "BCD syndrome" MONDO:0004812 oboInOwl:hasExactSynonym "dacryoadenitis, acute" MONDO:0010716 oboInOwl:hasExactSynonym "lethal multiple pterygium syndrome, X-linked" ECTO:7000073 oboInOwl:hasExactSynonym "mineral material exposure" MONDO:0006460 oboInOwl:hasExactSynonym "thyroglossal tract cyst" MONDO:0017401 oboInOwl:hasExactSynonym "familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form" CL:1000282 oboInOwl:hasExactSynonym "non-striated muscle fiber of ascending colon" +MONDO:0009977 oboInOwl:hasExactSynonym "Knobloch syndrome, type 1" MONDO:0009977 oboInOwl:hasExactSynonym "retinal detachment-occipital encephalocele syndrome" MONDO:0009977 oboInOwl:hasExactSynonym "Knobloch syndrome type 1" MONDO:0009977 oboInOwl:hasExactSynonym "Knobloch-Layer syndrome" @@ -114799,11 +115476,12 @@ ECTO:9001982 oboInOwl:hasExactSynonym "exposure to anti-inflammatory agent" MONDO:0024332 oboInOwl:hasExactSynonym "nonseasonal allergic rhinitis" MONDO:0024332 oboInOwl:hasExactSynonym "non-seasonal allergic rhinitis" MONDO:0024332 oboInOwl:hasExactSynonym "perennial allergic rhinitis" -MONDO:0012927 oboInOwl:hasExactSynonym "1q41q42 microdeletion syndrome" -MONDO:0012927 oboInOwl:hasExactSynonym "monosomy 1q41-q42" +MONDO:0012927 oboInOwl:hasExactSynonym "chromosome 1q41-q42 deletion syndrome" MONDO:0012927 oboInOwl:hasExactSynonym "Del(1)(q41q42)" +MONDO:0012927 oboInOwl:hasExactSynonym "monosomy 1q41-q42" MONDO:0012927 oboInOwl:hasExactSynonym "1q41-q42 microdeletion syndrome" -MONDO:0012927 oboInOwl:hasExactSynonym "chromosome 1q41-q42 deletion syndrome" +MONDO:0012927 oboInOwl:hasExactSynonym "1q41q42 microdeletion syndrome" +MONDO:0012927 oboInOwl:hasExactSynonym "chromosome 1q41-q42 deletion syndrome, isolated cases" MONDO:0012927 oboInOwl:hasExactSynonym "monosomy 1q41q42" MONDO:0004311 oboInOwl:hasExactSynonym "bulbo-urethral gland carcinoma" MONDO:0004311 oboInOwl:hasExactSynonym "carcinoma of bulbo-urethral gland" @@ -114928,6 +115606,7 @@ MONDO:0007129 oboInOwl:hasExactSynonym "MSX1 tooth agenesis" MONDO:0007129 oboInOwl:hasExactSynonym "tooth agenesis, selective, type 1" MONDO:0007129 oboInOwl:hasExactSynonym "tooth agenesis caused by mutation in MSX1" MONDO:0007129 oboInOwl:hasExactSynonym "tooth agenesis, selective, 1" +MONDO:0007129 oboInOwl:hasExactSynonym "tooth agenesis, selective, 1, with or without orofacial cleft" MONDO:0010968 oboInOwl:hasExactSynonym "glaucoma 3, primary infantile, B" MONDO:0010968 oboInOwl:hasExactSynonym "GLC3B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100018 oboInOwl:hasExactSynonym "adult onset PRP" @@ -114970,13 +115649,13 @@ MONDO:0013352 oboInOwl:hasExactSynonym "intellectual disability-severe speech de HP:0002019 oboInOwl:hasExactSynonym "Constipation" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0002019 oboInOwl:hasExactSynonym "Dyschezia" HP:0002019 oboInOwl:hasExactSynonym "Costiveness" +HP:0000707 oboInOwl:hasExactSynonym "Abnormality of the nervous system" http://purl.obolibrary.org/obo/hp.obo#layperson +HP:0000707 oboInOwl:hasExactSynonym "Neurological abnormality" http://purl.obolibrary.org/obo/hp.obo#layperson +HP:0000707 oboInOwl:hasExactSynonym "Neurologic abnormalities" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0019059 oboInOwl:hasExactSynonym "rare parkinsonian disorder" MONDO:0019059 oboInOwl:hasExactSynonym "rare hypokinetic movement disorder" MONDO:0013614 oboInOwl:hasExactSynonym "HPPD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013614 oboInOwl:hasExactSynonym "hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome" -HP:0000707 oboInOwl:hasExactSynonym "Abnormality of the nervous system" http://purl.obolibrary.org/obo/hp.obo#layperson -HP:0000707 oboInOwl:hasExactSynonym "Neurological abnormality" http://purl.obolibrary.org/obo/hp.obo#layperson -HP:0000707 oboInOwl:hasExactSynonym "Neurologic abnormalities" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0003609 oboInOwl:hasExactSynonym "seminal vesicle cystadenoma" MONDO:0007862 oboInOwl:hasExactSynonym "Waardenburg syndrome with upper limb anomalies" MONDO:0007862 oboInOwl:hasExactSynonym "Waardenburg syndrome type III" @@ -115010,6 +115689,7 @@ MONDO:0013235 oboInOwl:hasExactSynonym "BRCA2 familial pancreatic carcinoma" MONDO:0013235 oboInOwl:hasExactSynonym "pancreatic cancer, susceptibility to, 2" MONDO:0013235 oboInOwl:hasExactSynonym "pancreatic cancer, susceptibility to, type 2" MONDO:0013235 oboInOwl:hasExactSynonym "familial pancreatic carcinoma caused by mutation in BRCA2" +MONDO:0013235 oboInOwl:hasExactSynonym "pancreatic cancer 2" MONDO:0014793 oboInOwl:hasExactSynonym "smo deficiency" MONDO:0014793 oboInOwl:hasExactSynonym "sterol-C4-methyl oxidase deficiency" MONDO:0014793 oboInOwl:hasExactSynonym "microcephaly, congenital cataract, and psoriasiform dermatitis" @@ -115039,6 +115719,8 @@ MONDO:0018937 oboInOwl:hasExactSynonym "mucopolysaccharidosis, MPS-III" MONDO:0004804 oboInOwl:hasExactSynonym "lacrimal gland inflammation" MONDO:0004804 oboInOwl:hasExactSynonym "inflammation of lacrimal gland" MONDO:0003778 oboInOwl:hasExactSynonym "hypoimmunity" +MONDO:0003778 oboInOwl:hasExactSynonym "IEI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0003778 oboInOwl:hasExactSynonym "primary immunodeficiency disease" MONDO:0003778 oboInOwl:hasExactSynonym "immune deficiency disorder" MONDO:0003778 oboInOwl:hasExactSynonym "immunodeficiency syndrome" CL:1000490 oboInOwl:hasExactSynonym "peritoneal mesothelial cell" @@ -115052,6 +115734,7 @@ MONDO:0011843 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 25" MONDO:0011843 oboInOwl:hasExactSynonym "cardiomyopathy familial hypertrophic 25" MONDO:0011843 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, type 25" MONDO:0011843 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy caused by mutation in TCAP" +MONDO:0011843 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 25" MONDO:0011843 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy caused by mutation in Tcap" MONDO:0100164 oboInOwl:hasExactSynonym "monogenic diabetes of infancy" MONDO:0100164 oboInOwl:hasExactSynonym "PNDM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -115062,9 +115745,11 @@ MONDO:0017380 oboInOwl:hasExactSynonym "juvenile multiple polyps syndrome" MONDO:0017380 oboInOwl:hasExactSynonym "JIP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017380 oboInOwl:hasExactSynonym "juvenile intestinal polyposis" MONDO:0017380 oboInOwl:hasExactSynonym "juvenile gastrointestinal polyposis" +MONDO:0017380 oboInOwl:hasExactSynonym "polyposis, juvenile intestinal" MONDO:0017380 oboInOwl:hasExactSynonym "juvenile polyposis" MONDO:0017380 oboInOwl:hasExactSynonym "juvenile polyposis syndrome" GO:0045121 oboInOwl:hasExactSynonym "lipid raft" +MONDO:0010441 oboInOwl:hasExactSynonym "CK syndrome, X-linked recessive" MONDO:0010441 oboInOwl:hasExactSynonym "CK syndrome" MONDO:0010441 oboInOwl:hasExactSynonym "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome" CHEBI:27026 oboInOwl:hasExactSynonym "toxin" @@ -115077,6 +115762,7 @@ MONDO:0014604 oboInOwl:hasExactSynonym "hereditary late onset Parkinson disease MONDO:0014604 oboInOwl:hasExactSynonym "Parkinson disease type 21" MONDO:0014604 oboInOwl:hasExactSynonym "DNAJC13 hereditary late onset Parkinson disease" MONDO:0021018 oboInOwl:hasExactSynonym "LGMD1D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0021018 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal dominant 1" MONDO:0021018 oboInOwl:hasExactSynonym "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6" MONDO:0021018 oboInOwl:hasExactSynonym "DNAJB6 autosomal dominant limb-girdle muscular dystrophy" MONDO:0021018 oboInOwl:hasExactSynonym "LGMD1D (DNAJB6)" @@ -115092,6 +115778,7 @@ MONDO:0007619 oboInOwl:hasExactSynonym "immigration delay disease" MONDO:0007619 oboInOwl:hasExactSynonym "isolated congenital adermatoglyphia" MONDO:0033622 oboInOwl:hasExactSynonym "SPGF44" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014900 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, type 2y" +MONDO:0014900 oboInOwl:hasExactSynonym "muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures" MONDO:0014900 oboInOwl:hasExactSynonym "TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy" MONDO:0014900 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, type 2Y" MONDO:0014900 oboInOwl:hasExactSynonym "muscular dystrophy with progressive weakness, distal contractures and rigid spine" @@ -115103,6 +115790,7 @@ MONDO:0011173 oboInOwl:hasExactSynonym "thrombocythemia 2" MONDO:0011173 oboInOwl:hasExactSynonym "familial thrombocytosis caused by mutation in MPL" MONDO:0011173 oboInOwl:hasExactSynonym "MPL familial thrombocytosis" MONDO:0011173 oboInOwl:hasExactSynonym "thrombocythemia type 2" +MONDO:0011173 oboInOwl:hasExactSynonym "thrombocythemia 2, autosomal dominant, somatic mutation" MONDO:0013202 oboInOwl:hasExactSynonym "WS4C" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013202 oboInOwl:hasExactSynonym "Waardenburg syndrome with Hirschsprung disease type 4C" MONDO:0013202 oboInOwl:hasExactSynonym "Waardenburg syndrome type 4C" @@ -115138,6 +115826,7 @@ MONDO:0021447 oboInOwl:hasExactSynonym "benign tumor of the testis" MONDO:0021447 oboInOwl:hasExactSynonym "benign neoplasm of the testis" MONDO:0021447 oboInOwl:hasExactSynonym "benign testicular neoplasm" MONDO:0008192 oboInOwl:hasExactSynonym "paraganglioma caused by mutation in SDHD" +MONDO:0008192 oboInOwl:hasExactSynonym "paragangliomas 1, with or without deafness" MONDO:0008192 oboInOwl:hasExactSynonym "paragangliomas type 1" MONDO:0008192 oboInOwl:hasExactSynonym "SDHD paraganglioma" MONDO:0008192 oboInOwl:hasExactSynonym "paragangliomas 1" @@ -115174,10 +115863,10 @@ MONDO:0010899 oboInOwl:hasExactSynonym "autosomal dominant nocturnal frontal lob MONDO:0010899 oboInOwl:hasExactSynonym "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4" MONDO:0010899 oboInOwl:hasExactSynonym "ENFL1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010899 oboInOwl:hasExactSynonym "nocturnal frontal lobe epilepsy 1" -MONDO:0015999 oboInOwl:hasExactSynonym "pigmented nodular adrenocortical disease, primary" -MONDO:0015999 oboInOwl:hasExactSynonym "primary pigmented nodular adrenal dysplasia" MONDO:0015999 oboInOwl:hasExactSynonym "pigmented nodular adrenocortical disease" +MONDO:0015999 oboInOwl:hasExactSynonym "pigmented nodular adrenocortical disease, primary" MONDO:0015999 oboInOwl:hasExactSynonym "PPNAD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0015999 oboInOwl:hasExactSynonym "primary pigmented nodular adrenal dysplasia" GO:0030057 oboInOwl:hasExactSynonym "spot desmosome" GO:0030057 oboInOwl:hasExactSynonym "macula adherens" MONDO:0011845 oboInOwl:hasExactSynonym "migraine with or without aura, susceptibility to, 3" @@ -115198,10 +115887,12 @@ MONDO:0003943 oboInOwl:hasExactSynonym "hibernoma of nervous system" MONDO:0003943 oboInOwl:hasExactSynonym "hibernoma of central nervous system" MONDO:0003943 oboInOwl:hasExactSynonym "hibernoma of the central nervous system" MONDO:0010736 oboInOwl:hasExactSynonym "split hand-foot malformation type 2" +MONDO:0010736 oboInOwl:hasExactSynonym "split hand/foot malformation 2" MONDO:0010736 oboInOwl:hasExactSynonym "SHFM2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010912 oboInOwl:hasExactSynonym "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement" MONDO:0010912 oboInOwl:hasExactSynonym "TUBB3 congenital fibrosis of extraocular muscles" MONDO:0010912 oboInOwl:hasExactSynonym "congenital fibrosis of extraocular muscles caused by mutation in TUBB3" +MONDO:0010912 oboInOwl:hasExactSynonym "fibrosis of extraocular muscles, congenital, 3A" MONDO:0017319 oboInOwl:hasExactSynonym "HE" MONDO:0017319 oboInOwl:hasExactSynonym "congenital elliptocytosis" MONDO:0017319 oboInOwl:hasExactSynonym "hereditary ovalocytosis" @@ -115256,6 +115947,7 @@ MONDO:0014606 oboInOwl:hasExactSynonym "intellectual disability, autosomal domin MONDO:0003310 oboInOwl:hasExactSynonym "Mönckeberg arteriosclerosis" MONDO:0007901 oboInOwl:hasExactSynonym "levator-medial rectus synkinesis" MONDO:0014207 oboInOwl:hasExactSynonym "ARMD14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014207 oboInOwl:hasExactSynonym "macular degeneration, age-related, 14, reduced risk of, digenic dominant" MONDO:0014207 oboInOwl:hasExactSynonym "macular Degeneration, age-related, type 14" MONDO:0014207 oboInOwl:hasExactSynonym "age related macular degeneration type 14" MONDO:0013437 oboInOwl:hasExactSynonym "retinitis pigmentosa type 43" @@ -115286,6 +115978,7 @@ MONDO:0009299 oboInOwl:hasExactSynonym "46,XX pure gonadal dysgenesis" MONDO:0009299 oboInOwl:hasExactSynonym "46,XX complete gonadal dysgenesis" MONDO:0009299 oboInOwl:hasExactSynonym "46,XX gonadal dysgenesis" MONDO:0017090 oboInOwl:hasExactSynonym "Midline brain malformation" +MONDO:0032884 oboInOwl:hasExactSynonym "ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic" MONDO:0015474 oboInOwl:hasExactSynonym "Cryptosporidial gastroenteritis" MONDO:0015474 oboInOwl:hasExactSynonym "Cryptosporidium infectious disease" MONDO:0015474 oboInOwl:hasExactSynonym "Cryptosporidium infection" @@ -115330,6 +116023,7 @@ MONDO:0021541 oboInOwl:hasExactSynonym "angioma of the retina" MONDO:0021541 oboInOwl:hasExactSynonym "retina hemangioma" MONDO:0021541 oboInOwl:hasExactSynonym "retina angioma" MONDO:0021541 oboInOwl:hasExactSynonym "hemangioma of the retina" +MONDO:0007138 oboInOwl:hasExactSynonym "anterior segment dysgenesis 1, multiple subtypes" MONDO:0007138 oboInOwl:hasExactSynonym "anterior segment dysgenesis 1" MONDO:0007314 oboInOwl:hasExactSynonym "chemodectoma, intraabdominal, with cutaneous angiolipomas" MONDO:0013866 oboInOwl:hasExactSynonym "neuronal ceroid lipofuscinosis caused by mutation in Grn" @@ -115450,6 +116144,7 @@ MONDO:0014598 oboInOwl:hasExactSynonym "DEE31" http://purl.obolibrary.org/obo/mo MONDO:0014598 oboInOwl:hasExactSynonym "EIEE31" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014598 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in DNM1" MONDO:0014598 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 31" +MONDO:0014598 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 31" MONDO:0014598 oboInOwl:hasExactSynonym "DNM1 early infantile epileptic encephalopathy" MONDO:0014598 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 31" MONDO:0005543 oboInOwl:hasExactSynonym "autoimmune hepatitis type 1" @@ -115463,8 +116158,8 @@ MONDO:0014353 oboInOwl:hasExactSynonym "immunodeficiency with hyper IgE and cogn MONDO:0014353 oboInOwl:hasExactSynonym "combined immunodeficiency due to PGM3 deficiency" MONDO:0014353 oboInOwl:hasExactSynonym "IMD23" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014353 oboInOwl:hasExactSynonym "immunodeficiency-vasculitis-myoclonus syndrome" -MONDO:0014353 oboInOwl:hasExactSynonym "phosphoglucomutase 3 deficiency" MONDO:0014353 oboInOwl:hasExactSynonym "immunodeficiency type 23" +MONDO:0014353 oboInOwl:hasExactSynonym "phosphoglucomutase 3 deficiency" MONDO:0014353 oboInOwl:hasExactSynonym "PGM3-EXACT congenital disorder of glycosylation" GO:0030851 oboInOwl:hasExactSynonym "granulocyte cell differentiation" MONDO:0004273 oboInOwl:hasExactSynonym "apocrine adenoma of breast" @@ -115509,6 +116204,7 @@ MONDO:0009806 oboInOwl:hasExactSynonym "Bruck syndrome 1" MONDO:0009806 oboInOwl:hasExactSynonym "arthrogryposis-like disorder" MONDO:0009806 oboInOwl:hasExactSynonym "Bruck syndrome type 1" MONDO:0010246 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy type 9" +MONDO:0010246 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 9" MONDO:0010246 oboInOwl:hasExactSynonym "EFMR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010246 oboInOwl:hasExactSynonym "DEE9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010246 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy 9" @@ -115562,10 +116258,10 @@ MONDO:0011781 oboInOwl:hasExactSynonym "OPCA with dementia and extrapyramidal si MONDO:0011781 oboInOwl:hasExactSynonym "OPCA V" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011781 oboInOwl:hasExactSynonym "Huntington disease-like 4" MONDO:0011781 oboInOwl:hasExactSynonym "spinocerebellar ataxia type 17" -MONDO:0007034 oboInOwl:hasExactSynonym "Adams Oliver syndrome" -MONDO:0007034 oboInOwl:hasExactSynonym "AOS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007034 oboInOwl:hasExactSynonym "congenital scalp defects with distal limb anomalies" +MONDO:0007034 oboInOwl:hasExactSynonym "Adams Oliver syndrome" MONDO:0007034 oboInOwl:hasExactSynonym "congenital scalp defects with distal limb reduction anomalies" +MONDO:0007034 oboInOwl:hasExactSynonym "AOS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007034 oboInOwl:hasExactSynonym "limb, scalp and skull defects" GO:0048242 oboInOwl:hasExactSynonym "adrenaline secretion" MONDO:0009464 oboInOwl:hasExactSynonym "immunodeficiency with defective T-cell response to Interleukin type 1" @@ -115576,16 +116272,18 @@ MONDO:0014073 oboInOwl:hasExactSynonym "CRYAB familial isolated dilated cardiomy MONDO:0014073 oboInOwl:hasExactSynonym "familial isolated dilated cardiomyopathy caused by mutation in CRYAB" MONDO:0014073 oboInOwl:hasExactSynonym "dilated cardiomyopathy type 1II" MONDO:0011687 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuronal type 2F" -MONDO:0011687 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2F" -MONDO:0011687 oboInOwl:hasExactSynonym "autosomal dominant Charcot-Marie-Tooth disease type 2F" MONDO:0011687 oboInOwl:hasExactSynonym "HSPB1 Charcot-Marie-Tooth disease type 2" -MONDO:0011687 oboInOwl:hasExactSynonym "CMT2F" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011687 oboInOwl:hasExactSynonym "autosomal dominant Charcot-Marie-Tooth disease type 2F" MONDO:0011687 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1" +MONDO:0011687 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2F" +MONDO:0011687 oboInOwl:hasExactSynonym "CMT2F" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010938 oboInOwl:hasExactSynonym "T-B+ severe combined immunodeficiency due to JAK3 deficiency" MONDO:0010938 oboInOwl:hasExactSynonym "T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency" +MONDO:0010938 oboInOwl:hasExactSynonym "SCID, autosomal recessive, T-negative/B-positive type" MONDO:0010938 oboInOwl:hasExactSynonym "T-B+ SCID due to JAK3 deficiency" CL:0000764 oboInOwl:hasExactSynonym "erythropoietic cell" MONDO:0008114 oboInOwl:hasExactSynonym "Anancastic neurosis" +MONDO:0008114 oboInOwl:hasExactSynonym "obsessive-compulsive disorder, susceptibility to" MONDO:0008114 oboInOwl:hasExactSynonym "obsessive compulsive disorder" MONDO:0008114 oboInOwl:hasExactSynonym "obsessive-compulsive disorder" MONDO:0009672 oboInOwl:hasExactSynonym "SMA-III" @@ -115599,8 +116297,10 @@ MONDO:0009672 oboInOwl:hasExactSynonym "spinal muscular atrophy type 3" MONDO:0009672 oboInOwl:hasExactSynonym "Kugelberg-Welander disease" MONDO:0009672 oboInOwl:hasExactSynonym "SMA3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009672 oboInOwl:hasExactSynonym "SMA type III" +MONDO:0009672 oboInOwl:hasExactSynonym "spinal muscular atrophy, type III, modifier of" MONDO:0009672 oboInOwl:hasExactSynonym "SMA type 3" MONDO:0009672 oboInOwl:hasExactSynonym "pediatric spinal muscular atrophy" +MONDO:0009672 oboInOwl:hasExactSynonym "spinal muscular atrophy-3" MONDO:0009672 oboInOwl:hasExactSynonym "spinal muscular atrophy of childhood" MONDO:0004963 oboInOwl:hasExactSynonym "T-cell ALL" MONDO:0004963 oboInOwl:hasExactSynonym "acute T cell lymphocytic leukemia" @@ -115628,11 +116328,13 @@ MONDO:0012269 oboInOwl:hasExactSynonym "Del(3)(q29)" MONDO:0012269 oboInOwl:hasExactSynonym "3q subtelomere deletion syndrome" MONDO:0012269 oboInOwl:hasExactSynonym "3qter deletion" MONDO:0012269 oboInOwl:hasExactSynonym "monosomy 3q29" +MONDO:0012269 oboInOwl:hasExactSynonym "chromosome 3q29 microdeletion syndrome, isolated cases" MONDO:0012269 oboInOwl:hasExactSynonym "monosomy 3qter" MONDO:0014542 oboInOwl:hasExactSynonym "congenital myasthenic syndrome type 15" MONDO:0014542 oboInOwl:hasExactSynonym "ALG14 congenital myasthenic syndrome" MONDO:0014542 oboInOwl:hasExactSynonym "congenital myasthenic syndrome caused by mutation in ALG14" MONDO:0014542 oboInOwl:hasExactSynonym "CMS15" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014542 oboInOwl:hasExactSynonym "myasthenic syndrome, congenital, 15, without tubular aggregates" MONDO:0014542 oboInOwl:hasExactSynonym "myasthenic syndrome, congenital, type 15" MONDO:0014542 oboInOwl:hasExactSynonym "congenital myasthenic syndrome 15 without tubular aggregates" MONDO:0001062 oboInOwl:hasExactSynonym "malignant neoplasm of pyloric antrum" @@ -115642,10 +116344,10 @@ MONDO:0001062 oboInOwl:hasExactSynonym "malignant tumor of pyloric antrum" MONDO:0001062 oboInOwl:hasExactSynonym "malignant pyloric antrum neoplasm" MONDO:0001062 oboInOwl:hasExactSynonym "cancer of pyloric antrum" MONDO:0017458 oboInOwl:hasExactSynonym "postaxial polydactyly of foot" +MONDO:0005135 oboInOwl:hasExactSynonym "disease caused by parasite" MONDO:0005135 oboInOwl:hasExactSynonym "parasitic infectious disease" -MONDO:0005135 oboInOwl:hasExactSynonym "parasitic disease" MONDO:0005135 oboInOwl:hasExactSynonym "parasitic infection" -MONDO:0005135 oboInOwl:hasExactSynonym "disease caused by parasite" +MONDO:0005135 oboInOwl:hasExactSynonym "parasitic disease" PO:0009008 oboInOwl:hasExactSynonym "órgano vegetal (Spanish, exact)" PO:0009008 oboInOwl:hasExactSynonym "植物 器官 (Japanese, exact)" MONDO:0008335 oboInOwl:hasExactSynonym "Haspeslagh-Fryns-Muelenaere syndrome" @@ -115689,9 +116391,11 @@ MONDO:0016699 oboInOwl:hasExactSynonym "myxopapillary ependymoma (morphologic ab MONDO:0018899 oboInOwl:hasExactSynonym "biparietal Alzheimer disease" MONDO:0018899 oboInOwl:hasExactSynonym "Benson syndrome" MONDO:0018899 oboInOwl:hasExactSynonym "PCA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014763 oboInOwl:hasExactSynonym "Bombay phenotype, digenic" +MONDO:0014763 oboInOwl:hasExactSynonym "Bombay phenotype" MONDO:0100080 oboInOwl:hasExactSynonym "cardio-ectodermal syndrome" -CL:0000492 oboInOwl:hasExactSynonym "CD4-positive helper T lymphocyte" CL:0000492 oboInOwl:hasExactSynonym "CD4-positive T-helper cell" +CL:0000492 oboInOwl:hasExactSynonym "CD4-positive helper T lymphocyte" CL:0000492 oboInOwl:hasExactSynonym "CD4-positive helper T-cell" CL:0000492 oboInOwl:hasExactSynonym "CD4-positive helper T-lymphocyte" CL:0012001 oboInOwl:hasExactSynonym "forebrain neuron" @@ -115806,6 +116510,7 @@ MONDO:0020606 oboInOwl:hasExactSynonym "sex-linked hereditary disorder" MONDO:0010717 oboInOwl:hasExactSynonym "pyruvate decarboxylase deficiency" MONDO:0010717 oboInOwl:hasExactSynonym "PDHAD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010717 oboInOwl:hasExactSynonym "pyruvate dehydrogenase complex E1 component subunit alpha deficiency" +MONDO:0010717 oboInOwl:hasExactSynonym "pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant" MONDO:0010717 oboInOwl:hasExactSynonym "pyruvate dehydrogenase E1-alpha deficiency" MONDO:0013164 oboInOwl:hasExactSynonym "beta-ureidopropionase deficiency" MONDO:0013164 oboInOwl:hasExactSynonym "Beta-alanine synthase deficiency" @@ -115861,6 +116566,7 @@ MONDO:0004358 oboInOwl:hasExactSynonym "carcinoma of subglottis" MONDO:0004358 oboInOwl:hasExactSynonym "subglottis carcinoma" MONDO:0004358 oboInOwl:hasExactSynonym "subglottic carcinoma" MONDO:0004358 oboInOwl:hasExactSynonym "carcinoma of the subglottis" +MONDO:0044234 oboInOwl:hasExactSynonym "hair, curly" MONDO:0015748 oboInOwl:hasExactSynonym "white sponge nevus of Cannon" MONDO:0015748 oboInOwl:hasExactSynonym "white sponge nevus" MONDO:0015748 oboInOwl:hasExactSynonym "hereditary mucosal leukokeratosis" @@ -115877,26 +116583,30 @@ CL:0000166 oboInOwl:hasExactSynonym "phaeochromocyte" MONDO:0009495 oboInOwl:hasExactSynonym "Keutel syndrome" MONDO:0009495 oboInOwl:hasExactSynonym "pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome" MONDO:0020798 oboInOwl:hasExactSynonym "FIH2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020798 oboInOwl:hasExactSynonym "hypoparathyroidism, familial isolated 2" MONDO:0020798 oboInOwl:hasExactSynonym "hypoparathyroidism, familial isolated, 2" +MONDO:0010592 oboInOwl:hasExactSynonym "focal dermal hypoplasia, X-linked dominant" MONDO:0010592 oboInOwl:hasExactSynonym "focal dermal hypoplasia" MONDO:0010592 oboInOwl:hasExactSynonym "Goltz-Gorlin syndrome" MONDO:0010592 oboInOwl:hasExactSynonym "Goltz syndrome" MONDO:0024554 oboInOwl:hasExactSynonym "D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH" MONDO:0024554 oboInOwl:hasExactSynonym "D-2-hydroxyglutaric aciduria 1" MONDO:0024554 oboInOwl:hasExactSynonym "D2HGDH D-2-hydroxyglutaric aciduria" +MONDO:0024554 oboInOwl:hasExactSynonym "D-2-hydroxyglutaric aciduria" MONDO:0006986 oboInOwl:hasExactSynonym "retrosternal thyroid goiter" -MONDO:0100019 oboInOwl:hasExactSynonym "ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia" MONDO:0012621 oboInOwl:hasExactSynonym "deafness-infertility syndrome" MONDO:0012621 oboInOwl:hasExactSynonym "dis" +MONDO:0012621 oboInOwl:hasExactSynonym "deafness and male infertility" +MONDO:0100019 oboInOwl:hasExactSynonym "ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia" MONDO:0007932 oboInOwl:hasExactSynonym "age related macular degeneration type 2" MONDO:0007932 oboInOwl:hasExactSynonym "ARMD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007932 oboInOwl:hasExactSynonym "macular Degeneration, age-related, type 2" MONDO:0018290 oboInOwl:hasExactSynonym "CDG with cardiac malformation as a major feature" -MONDO:0007380 oboInOwl:hasExactSynonym "Biber-Haab-Dimmer dystrophy" MONDO:0007380 oboInOwl:hasExactSynonym "Lcd1" MONDO:0007380 oboInOwl:hasExactSynonym "classic lattice corneal dystrophy" MONDO:0007380 oboInOwl:hasExactSynonym "LCDI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007380 oboInOwl:hasExactSynonym "lattice corneal dystrophy type 1" +MONDO:0007380 oboInOwl:hasExactSynonym "Biber-Haab-Dimmer dystrophy" MONDO:0003408 oboInOwl:hasExactSynonym "ovarian primitive germ cell tumor" MONDO:0004994 oboInOwl:hasExactSynonym "cardiomyopathy" MONDO:0004994 oboInOwl:hasExactSynonym "Cardiomyopathies" @@ -115936,6 +116646,7 @@ MONDO:0018509 oboInOwl:hasExactSynonym "small intestinal squamous cell carcinoma MONDO:0018509 oboInOwl:hasExactSynonym "small intestine squamous cell carcinoma" MONDO:0018509 oboInOwl:hasExactSynonym "small intestinal squamous cell cancer" MONDO:0018509 oboInOwl:hasExactSynonym "squamous cell carcinoma of the small bowel" +MONDO:0008327 oboInOwl:hasExactSynonym "exfoliation syndrome, susceptibility to" MONDO:0008327 oboInOwl:hasExactSynonym "pseudoexfoliation glaucoma" MONDO:0008327 oboInOwl:hasExactSynonym "exfoliation syndrome" MONDO:0008327 oboInOwl:hasExactSynonym "XFG" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -116049,13 +116760,14 @@ MONDO:0011454 oboInOwl:hasExactSynonym "patent arterial duct-bicuspid aortic val MONDO:0007863 oboInOwl:hasExactSynonym "Kleine-Levin syndrome" NCBITaxon:6179 oboInOwl:hasExactSynonym "flukes" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name NCBITaxon:6179 oboInOwl:hasExactSynonym "Digenea" http://purl.obolibrary.org/obo/ncbitaxon#scientific_name +MONDO:0005988 oboInOwl:hasExactSynonym "Toxocara caused disease or disorder" MONDO:0005988 oboInOwl:hasExactSynonym "Toxocara infection" MONDO:0005988 oboInOwl:hasExactSynonym "visceral larva migrans" +MONDO:0005988 oboInOwl:hasExactSynonym "Toxocara infectious disease" MONDO:0005988 oboInOwl:hasExactSynonym "Toxocara disease or disorder" MONDO:0005988 oboInOwl:hasExactSynonym "infection by Toxascaris" -MONDO:0005988 oboInOwl:hasExactSynonym "Toxocara caused disease or disorder" -MONDO:0005988 oboInOwl:hasExactSynonym "Toxocara infectious disease" MONDO:0100165 oboInOwl:hasExactSynonym "PNDM1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0100165 oboInOwl:hasExactSynonym "diabetes mellitus, permanent neonatal 1" MONDO:0005190 oboInOwl:hasExactSynonym "primary macroglobulinemia" HP:0000309 oboInOwl:hasExactSynonym "Anomaly of the midface" HP:0000309 oboInOwl:hasExactSynonym "Abnormality of the midface" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -116076,6 +116788,7 @@ MONDO:0002377 oboInOwl:hasExactSynonym "intracanalicular fibroadenoma of breast" NCBITaxon:11232 oboInOwl:hasExactSynonym "canine distemper virus CDV" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:11232 oboInOwl:hasExactSynonym "Canine distemper virus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name MONDO:0001490 oboInOwl:hasExactSynonym "granular corneal dystrophy" +MONDO:0010442 oboInOwl:hasExactSynonym "46XX sex reversal 3, X-linked dominant" MONDO:0010442 oboInOwl:hasExactSynonym "46,XX Sex reversal type 3" MONDO:0010442 oboInOwl:hasExactSynonym "46,XX sex reversal 3" MONDO:0044013 oboInOwl:hasExactSynonym "puerperal disorder" @@ -116101,23 +116814,24 @@ MONDO:0010898 oboInOwl:hasExactSynonym "ADPEAF" http://purl.obolibrary.org/obo/m MONDO:0010898 oboInOwl:hasExactSynonym "partial epilepsy with auditory aura" MONDO:0010898 oboInOwl:hasExactSynonym "ADLTE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011844 oboInOwl:hasExactSynonym "myoclonic dystonia type 15" +MONDO:0011844 oboInOwl:hasExactSynonym "dystonia-15, myoclonic" HP:0003198 oboInOwl:hasExactSynonym "Muscle tissue disease" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0003198 oboInOwl:hasExactSynonym "Myopathic changes" GO:0050714 oboInOwl:hasExactSynonym "up-regulation of protein secretion" GO:0050714 oboInOwl:hasExactSynonym "upregulation of protein secretion" GO:0050714 oboInOwl:hasExactSynonym "up regulation of protein secretion" -MONDO:0015267 oboInOwl:hasExactSynonym "MMT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015267 oboInOwl:hasExactSynonym "Brunner-Winter syndrome" -MONDO:0015267 oboInOwl:hasExactSynonym "oculo-digito-esophageal-duodenal syndrome" MONDO:0015267 oboInOwl:hasExactSynonym "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" MONDO:0015267 oboInOwl:hasExactSynonym "MODED syndrome" -MONDO:0015267 oboInOwl:hasExactSynonym "microcephaly-oculo-digito-esophageal-duodenal syndrome" -MONDO:0015267 oboInOwl:hasExactSynonym "ODED syndrome" MONDO:0015267 oboInOwl:hasExactSynonym "microcephaly-intellectual disability-tracheoesophageal fistula syndrome" -MONDO:0015267 oboInOwl:hasExactSynonym "FS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015267 oboInOwl:hasExactSynonym "microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome" -MONDO:0015267 oboInOwl:hasExactSynonym "FGLDS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0015267 oboInOwl:hasExactSynonym "ODED syndrome" +MONDO:0015267 oboInOwl:hasExactSynonym "MMT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015267 oboInOwl:hasExactSynonym "microcephaly-digital anomalies-normal intelligence syndrome" +MONDO:0015267 oboInOwl:hasExactSynonym "FGLDS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0015267 oboInOwl:hasExactSynonym "microcephaly-oculo-digito-esophageal-duodenal syndrome" +MONDO:0015267 oboInOwl:hasExactSynonym "oculo-digito-esophageal-duodenal syndrome" +MONDO:0015267 oboInOwl:hasExactSynonym "Brunner-Winter syndrome" +MONDO:0015267 oboInOwl:hasExactSynonym "FS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017381 oboInOwl:hasExactSynonym "Simplexvirus caused infectious embryofetopathy" MONDO:0017381 oboInOwl:hasExactSynonym "antenatal herpes simplex virus infection" MONDO:0017381 oboInOwl:hasExactSynonym "congenital herpes simplex" @@ -116165,6 +116879,7 @@ HP:0000982 oboInOwl:hasExactSynonym "Thickening of palms and soles" http://purl. HP:0000982 oboInOwl:hasExactSynonym "Palmar and plantar keratoderma" MONDO:0002950 oboInOwl:hasExactSynonym "clear cell basal cell carcinoma" MONDO:0002950 oboInOwl:hasExactSynonym "skin clear cell basal cell carcinoma" +ECTO:9001751 oboInOwl:hasExactSynonym "exposure to antiprotozoal drug" GO:1903726 oboInOwl:hasExactSynonym "down regulation of phospholipid metabolic process" GO:1903726 oboInOwl:hasExactSynonym "down regulation of phospholipid metabolism" GO:1903726 oboInOwl:hasExactSynonym "down-regulation of phospholipid metabolism" @@ -116174,7 +116889,6 @@ GO:1903726 oboInOwl:hasExactSynonym "down-regulation of phospholipid metabolic p GO:1903726 oboInOwl:hasExactSynonym "downregulation of phospholipid metabolism" MONDO:0004111 oboInOwl:hasExactSynonym "refractory hematologic cancer" MONDO:0004111 oboInOwl:hasExactSynonym "refractory hematologic malignancy" -ECTO:9001751 oboInOwl:hasExactSynonym "exposure to antiprotozoal drug" MONDO:0006978 oboInOwl:hasExactSynonym "splenic infarct" MONDO:0006978 oboInOwl:hasExactSynonym "splenic infarction" CHEBI:35366 oboInOwl:hasExactSynonym "Fatty acid" @@ -116210,8 +116924,8 @@ GO:0044419 oboInOwl:hasExactSynonym "interspecies interaction with other organis GO:0044419 oboInOwl:hasExactSynonym "interspecies interaction between organisms" GO:0044419 oboInOwl:hasExactSynonym "interspecies interaction" GO:0044419 oboInOwl:hasExactSynonym "interaction with another species" -MONDO:0002495 oboInOwl:hasExactSynonym "colonic signet Ring cell adenocarcinoma" MONDO:0002495 oboInOwl:hasExactSynonym "signet Ring cell colon adenocarcinoma" +MONDO:0002495 oboInOwl:hasExactSynonym "colonic signet Ring cell adenocarcinoma" MONDO:0002495 oboInOwl:hasExactSynonym "signet Ring cell adenocarcinoma of the colon" MONDO:0002495 oboInOwl:hasExactSynonym "colon signet Ring cell adenocarcinoma" MONDO:0002495 oboInOwl:hasExactSynonym "colonic signet Ring adenocarcinoma" @@ -116290,6 +117004,7 @@ MONDO:0008883 oboInOwl:hasExactSynonym "brachydactyly, type A2, with microcephal MONDO:0014208 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2R" MONDO:0014208 oboInOwl:hasExactSynonym "TRIM2 Charcot-Marie-Tooth disease type 2" MONDO:0014208 oboInOwl:hasExactSynonym "CMT2R" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014208 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 2R" MONDO:0014208 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2" MONDO:0014208 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2R" MONDO:0014208 oboInOwl:hasExactSynonym "autosomal recessive axonal Charcot-Marie-Tooth disease type 2R" @@ -116299,6 +117014,7 @@ MONDO:0013438 oboInOwl:hasExactSynonym "pontocerebellar hypoplasia type 2D" MONDO:0003944 oboInOwl:hasExactSynonym "bronchus lung leiomyoma" MONDO:0003944 oboInOwl:hasExactSynonym "lung leiomyoma of bronchus" MONDO:0003944 oboInOwl:hasExactSynonym "endobronchial leiomyoma" +MONDO:0010737 oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia tarda, X-linked recessive" MONDO:0010737 oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia tarda, X-linked" MONDO:0020093 oboInOwl:hasExactSynonym "autosomal dominant isolated diffuse palmoplantar hyperkeratosis" MONDO:0020093 oboInOwl:hasExactSynonym "isolated diffuse palmoplantar keratoderma, autosomal dominant" @@ -116313,6 +117029,7 @@ MONDO:0015046 oboInOwl:hasExactSynonym "Franklin disease" MONDO:0015046 oboInOwl:hasExactSynonym "Franklin's disease" MONDO:0015046 oboInOwl:hasExactSynonym "gamma heavy chain disease" MONDO:0015046 oboInOwl:hasExactSynonym "gamma-HCD" +MONDO:0007894 oboInOwl:hasExactSynonym "leri pleonosteosis chromosome duplication syndrome" MONDO:0007894 oboInOwl:hasExactSynonym "Leri pleonosteosis" MONDO:0024359 oboInOwl:hasExactSynonym "central sleep apnea due to periodic breathing" MONDO:0003298 oboInOwl:hasExactSynonym "leiomyoma of mammalian vulva" @@ -116336,6 +117053,7 @@ MONDO:0006674 oboInOwl:hasExactSynonym "fibrous mesothelioma, benign (morphologi MONDO:0014607 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 32" MONDO:0014607 oboInOwl:hasExactSynonym "EIEE32" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014607 oboInOwl:hasExactSynonym "DEE32" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014607 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 32" MONDO:0014607 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 32" MONDO:0014607 oboInOwl:hasExactSynonym "KCNA2 early infantile epileptic encephalopathy" MONDO:0014607 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in KCNA2" @@ -116435,6 +117153,7 @@ MONDO:0019091 oboInOwl:hasExactSynonym "BPD" http://purl.obolibrary.org/obo/mond MONDO:0007536 oboInOwl:hasExactSynonym "congenital lobar hyperinflation" MONDO:0007536 oboInOwl:hasExactSynonym "infantile lobar hyperinflation" MONDO:0054850 oboInOwl:hasExactSynonym "ovarian dysgenesis 6" +MONDO:0008047 oboInOwl:hasExactSynonym "episodic ataxia/myokymia syndrome" MONDO:0008047 oboInOwl:hasExactSynonym "acetazolamide-responsive periodic ataxia" MONDO:0008047 oboInOwl:hasExactSynonym "hereditary paroxysmal ataxia with neuromyotonia" MONDO:0008047 oboInOwl:hasExactSynonym "hereditary episodic ataxia caused by mutation in KCNA1" @@ -116451,6 +117170,7 @@ MONDO:0014599 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant t MONDO:0014599 oboInOwl:hasExactSynonym "autosomal dominant mental retardation 34" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014599 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant type 34" MONDO:0014599 oboInOwl:hasExactSynonym "autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP" +MONDO:0014599 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal dominant 34" MONDO:0014599 oboInOwl:hasExactSynonym "COL4A3BP autosomal dominant non-syndromic intellectual disability" MONDO:0014599 oboInOwl:hasExactSynonym "MRD34" http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP:0000364 oboInOwl:hasExactSynonym "Hearing abnormality" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -116551,8 +117271,8 @@ MONDO:0003975 oboInOwl:hasExactSynonym "carcinoma of Littre glands" MONDO:0003975 oboInOwl:hasExactSynonym "carcinoma of LittrC) glands" MONDO:0003975 oboInOwl:hasExactSynonym "male urethral gland carcinoma" MONDO:0003975 oboInOwl:hasExactSynonym "carcinoma of Littré glands" -MONDO:0009465 oboInOwl:hasExactSynonym "multiple intestinal atresia" MONDO:0009465 oboInOwl:hasExactSynonym "multiple gastrointestinal atresias" +MONDO:0009465 oboInOwl:hasExactSynonym "multiple intestinal atresia" MONDO:0014074 oboInOwl:hasExactSynonym "CMTDIF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014074 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, dominant Intermediate type F" MONDO:0014074 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease dominant intermediate type F" @@ -116576,12 +117296,12 @@ MONDO:0019668 oboInOwl:hasExactSynonym "pancreatic adenoma" CL:0000670 oboInOwl:hasExactSynonym "primitive germ cell" CL:0000670 oboInOwl:hasExactSynonym "gonocyte" HP:0410243 oboInOwl:hasExactSynonym "Abnormal IgM level in blood" +MONDO:0012292 oboInOwl:hasExactSynonym "hepatitis C virus, response to therapy of" MONDO:0012292 oboInOwl:hasExactSynonym "hepatitis C virus, susceptibility to" MONDO:0044092 oboInOwl:hasExactSynonym "non-gluten sensitive enteropathy syndrome" MONDO:0044092 oboInOwl:hasExactSynonym "collagenous sprue" MONDO:0100215 oboInOwl:hasExactSynonym "brain calcification, Rajab type" MONDO:0100215 oboInOwl:hasExactSynonym "neurodevelopmental disorder with brain, liver, and lung abnormalities" -MONDO:0023682 oboInOwl:hasExactSynonym "tympanic paraganglioma" MONDO:0001063 oboInOwl:hasExactSynonym "cardia of stomach cancer" MONDO:0001063 oboInOwl:hasExactSynonym "Ca cardia - stomach" MONDO:0001063 oboInOwl:hasExactSynonym "malignant cardia of stomach neoplasm" @@ -116590,6 +117310,7 @@ MONDO:0001063 oboInOwl:hasExactSynonym "malignant neoplasm of cardia of stomach" MONDO:0017459 oboInOwl:hasExactSynonym "mirror foot" MONDO:0017459 oboInOwl:hasExactSynonym "mesoaxial polydactyly of toes" MONDO:0017459 oboInOwl:hasExactSynonym "central polydactyly of foot" +MONDO:0023682 oboInOwl:hasExactSynonym "tympanic paraganglioma" PO:0009009 oboInOwl:hasExactSynonym "植物胚 (Japanese, exact)" PO:0009009 oboInOwl:hasExactSynonym "embrión (Spanish, exact)" MONDO:0019889 oboInOwl:hasExactSynonym "trisomy 22qter" @@ -116600,9 +117321,11 @@ MONDO:0008336 oboInOwl:hasExactSynonym "pterygium colli, isolated" MONDO:0014932 oboInOwl:hasExactSynonym "OFD15" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014932 oboInOwl:hasExactSynonym "orofaciodigital syndrome XV" MONDO:0014932 oboInOwl:hasExactSynonym "orofaciodigital syndrome type XV" +MONDO:0008512 oboInOwl:hasExactSynonym "syndactyly, type 1, with or without craniosynostosis" MONDO:0012175 oboInOwl:hasExactSynonym "CTRCT28" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012175 oboInOwl:hasExactSynonym "cataract 28" MONDO:0012175 oboInOwl:hasExactSynonym "cataract type 28" +MONDO:0012175 oboInOwl:hasExactSynonym "cataract 28, age-related cortical, susceptibility to" MONDO:0012175 oboInOwl:hasExactSynonym "ARCC1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012175 oboInOwl:hasExactSynonym "age-related cortical cataract 1" MONDO:0002168 oboInOwl:hasExactSynonym "rectal sarcoma" @@ -116611,9 +117334,18 @@ MONDO:0002168 oboInOwl:hasExactSynonym "sarcoma of the rectum" MONDO:0002168 oboInOwl:hasExactSynonym "sarcoma of rectum" MONDO:0013362 oboInOwl:hasExactSynonym "Beaulieu-Boycott-Innes syndrome" MONDO:0013362 oboInOwl:hasExactSynonym "BBIS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0016526 oboInOwl:hasExactSynonym "partial trisomy 9p" MONDO:0016526 oboInOwl:hasExactSynonym "Duplication of the short arm of chromosome 9" +MONDO:0016526 oboInOwl:hasExactSynonym "partial duplication of the short arm of chromosome 9" MONDO:0016526 oboInOwl:hasExactSynonym "Duplication 9p" +MONDO:0016526 oboInOwl:hasExactSynonym "partial duplication of chromosome 9p" MONDO:0016526 oboInOwl:hasExactSynonym "trisomy type 9p" +MONDO:0016526 oboInOwl:hasExactSynonym "9p trisomy" +MONDO:0016526 oboInOwl:hasExactSynonym "partial trisomy of the short arm of chromosome 9" +MONDO:0016526 oboInOwl:hasExactSynonym "9p duplication" +MONDO:0016526 oboInOwl:hasExactSynonym "partial trisomy of the short arm of chromosome type 9" +MONDO:0016526 oboInOwl:hasExactSynonym "chromosome 9p duplication" +MONDO:0016526 oboInOwl:hasExactSynonym "partial trisomy of chromosome 9p" MONDO:0016526 oboInOwl:hasExactSynonym "trisomy of the short arm of chromosome 9" CHEBI:28659 oboInOwl:hasExactSynonym "phosphorus" MONDO:0003619 oboInOwl:hasExactSynonym "inflammation of fallopian tube" @@ -116742,6 +117474,7 @@ MONDO:0044990 oboInOwl:hasExactSynonym "disorder of manus" MONDO:0044990 oboInOwl:hasExactSynonym "hand disease" MONDO:0044990 oboInOwl:hasExactSynonym "manus disease or disorder" MONDO:0044990 oboInOwl:hasExactSynonym "disorder of hand" +MONDO:0010412 oboInOwl:hasExactSynonym "craniofacioskeletal syndrome, X-linked recessive, X-linked dominant" MONDO:0012929 oboInOwl:hasExactSynonym "Compton-North congenital myopathy" MONDO:0030258 oboInOwl:hasExactSynonym "pontocerebellar hypoplasia, type 14" MONDO:0030258 oboInOwl:hasExactSynonym "PCH14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -116773,16 +117506,17 @@ MONDO:0008115 oboInOwl:hasExactSynonym "microcephaly-intellectual disability-tra MONDO:0008115 oboInOwl:hasExactSynonym "oculo-digito-esophageal-duodenal syndrome type 1" MONDO:0008115 oboInOwl:hasExactSynonym "MMT type 1" MONDO:0008115 oboInOwl:hasExactSynonym "microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1" -MONDO:0009673 oboInOwl:hasExactSynonym "Intermediate spinal muscular atrophy" -MONDO:0009673 oboInOwl:hasExactSynonym "SMA2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009673 oboInOwl:hasExactSynonym "SMA type II" -MONDO:0009673 oboInOwl:hasExactSynonym "muscular atrophy, spinal, intermediate type" MONDO:0009673 oboInOwl:hasExactSynonym "SMA type 2" -MONDO:0009673 oboInOwl:hasExactSynonym "muscular atrophy, spinal, infantile chronic form" -MONDO:0009673 oboInOwl:hasExactSynonym "SMA-II" -MONDO:0009673 oboInOwl:hasExactSynonym "chronic infantile spinal muscular atrophy" +MONDO:0009673 oboInOwl:hasExactSynonym "Intermediate spinal muscular atrophy" MONDO:0009673 oboInOwl:hasExactSynonym "spinal muscular atrophy, type II" +MONDO:0009673 oboInOwl:hasExactSynonym "chronic infantile spinal muscular atrophy" MONDO:0009673 oboInOwl:hasExactSynonym "chronic spinal muscular atrophy" +MONDO:0009673 oboInOwl:hasExactSynonym "muscular atrophy, spinal, infantile chronic form" +MONDO:0009673 oboInOwl:hasExactSynonym "SMA-II" +MONDO:0009673 oboInOwl:hasExactSynonym "spinal muscular atrophy-2" +MONDO:0009673 oboInOwl:hasExactSynonym "SMA2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009673 oboInOwl:hasExactSynonym "muscular atrophy, spinal, intermediate type" MONDO:0013165 oboInOwl:hasExactSynonym "SPG45" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013165 oboInOwl:hasExactSynonym "autosomal recessive spastic paraplegia type 65" MONDO:0013165 oboInOwl:hasExactSynonym "autosomal recessive complex spastic paraplegia caused by mutation in NT5C2" @@ -116802,6 +117536,7 @@ MONDO:0043653 oboInOwl:hasExactSynonym "cold sore" MONDO:0043653 oboInOwl:hasExactSynonym "herpes labialis" MONDO:0043653 oboInOwl:hasExactSynonym "cold sores" MONDO:0024555 oboInOwl:hasExactSynonym "megalencephalic leukoencephalopathy with subcortical cysts 1" +MONDO:0024555 oboInOwl:hasExactSynonym "megalencephalic leukoencephalopathy with subcortical cysts" MONDO:0003494 oboInOwl:hasExactSynonym "ovarian squamous cell carcinoma" MONDO:0003494 oboInOwl:hasExactSynonym "ovarian squamous cell cancer" MONDO:0003494 oboInOwl:hasExactSynonym "ovary squamous cell carcinoma" @@ -116816,6 +117551,7 @@ MONDO:0014543 oboInOwl:hasExactSynonym "congenital myasthenic syndrome 14, with MONDO:0014543 oboInOwl:hasExactSynonym "congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2" MONDO:0014543 oboInOwl:hasExactSynonym "CMSTA3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014543 oboInOwl:hasExactSynonym "ALG2 congenital myasthenic syndromes with glycosylation defect" +MONDO:0014543 oboInOwl:hasExactSynonym "myasthenic syndrome, congenital, 14, with tubular aggregates" MONDO:0014543 oboInOwl:hasExactSynonym "myasthenic syndrome, congenital, type 14" MONDO:0014543 oboInOwl:hasExactSynonym "congenital myasthenic syndrome type 14" HP:0007313 oboInOwl:hasExactSynonym "Neuroaxonal degeneration in the brain" @@ -116837,6 +117573,7 @@ MONDO:0012585 oboInOwl:hasExactSynonym "coronary heart disease, susceptibility t MONDO:0012585 oboInOwl:hasExactSynonym "coronary heart disease, susceptibility to, type 7" MONDO:0012585 oboInOwl:hasExactSynonym "coronary artery disease caused by mutation in CD36" MONDO:0012585 oboInOwl:hasExactSynonym "CD36 coronary artery disease" +MONDO:0044235 oboInOwl:hasExactSynonym "Handedness" MONDO:0013531 oboInOwl:hasExactSynonym "PSPH deficiency" MONDO:0013531 oboInOwl:hasExactSynonym "PSPHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013531 oboInOwl:hasExactSynonym "phosphoserine phosphatase deficiency" @@ -116878,11 +117615,11 @@ MONDO:0014113 oboInOwl:hasExactSynonym "cardiofaciocutaneous syndrome 3" MONDO:0014113 oboInOwl:hasExactSynonym "cardiofaciocutaneous syndrome caused by mutation in MAP2K1" MONDO:0014113 oboInOwl:hasExactSynonym "MAP2K1 cardiofaciocutaneous syndrome" MONDO:0014113 oboInOwl:hasExactSynonym "cardiofaciocutaneous syndrome type 3" -MONDO:0003086 oboInOwl:hasExactSynonym "thymus mucoepidermoid carcinoma" MONDO:0003086 oboInOwl:hasExactSynonym "mucoepidermoid carcinoma of the Thymus" MONDO:0003086 oboInOwl:hasExactSynonym "Thymus mucoepidermoid carcinoma" MONDO:0003086 oboInOwl:hasExactSynonym "thymic mucoepidermoid carcinoma" MONDO:0003086 oboInOwl:hasExactSynonym "mucoepidermoid carcinoma of Thymus" +MONDO:0003086 oboInOwl:hasExactSynonym "thymus mucoepidermoid carcinoma" MONDO:0007591 oboInOwl:hasExactSynonym "facial hypertrichosis" MONDO:0007591 oboInOwl:hasExactSynonym "facial hypertrichosis (disease)" MONDO:0004417 oboInOwl:hasExactSynonym "infiltrating bladder urothelial carcinoma, nested variant" @@ -116925,6 +117662,7 @@ MONDO:0012843 oboInOwl:hasExactSynonym "epilepsy, childhood absence, susceptibil MONDO:0012843 oboInOwl:hasExactSynonym "susceptibility to childhood absence epilepsy 5" MONDO:0012843 oboInOwl:hasExactSynonym "epilepsy, childhood absence, susceptibility to, type 5" MONDO:0012843 oboInOwl:hasExactSynonym "childhood absence epilepsy caused by mutation in GABRB3" +MONDO:0024264 oboInOwl:hasExactSynonym "hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia" MONDO:0024264 oboInOwl:hasExactSynonym "hypothyroidism, congenital, nongoitrous, 2" MONDO:0024264 oboInOwl:hasExactSynonym "congenital hypothyroidism due to thyroid dysgenesis or hypoplasia" MONDO:0024264 oboInOwl:hasExactSynonym "CHNG2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -116937,14 +117675,6 @@ GO:1900371 oboInOwl:hasExactSynonym "regulation of purine nucleotide synthesis" GO:1900371 oboInOwl:hasExactSynonym "regulation of purine nucleotide anabolism" GO:1900371 oboInOwl:hasExactSynonym "regulation of purine nucleotide formation" GO:1900371 oboInOwl:hasExactSynonym "regulation of purine nucleotide biosynthesis" -MONDO:0005021 oboInOwl:hasExactSynonym "dilated cardiomyopathy" -MONDO:0000050 oboInOwl:hasExactSynonym "congenital isolated growth hormone deficiency" -MONDO:0000050 oboInOwl:hasExactSynonym "ICGHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0000050 oboInOwl:hasExactSynonym "congenital IGHD" -MONDO:0000050 oboInOwl:hasExactSynonym "IGHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0000050 oboInOwl:hasExactSynonym "congenital isolated GH deficiency" -MONDO:0000050 oboInOwl:hasExactSynonym "familial isolated growth hormone deficiency" -MONDO:0000050 oboInOwl:hasExactSynonym "isolated growth hormone deficiency" MONDO:0003273 oboInOwl:hasExactSynonym "malignant sternal tumor" MONDO:0003273 oboInOwl:hasExactSynonym "malignant tumor of the sternum" MONDO:0003273 oboInOwl:hasExactSynonym "malignant neoplasm of the sternum" @@ -116954,6 +117684,14 @@ MONDO:0003273 oboInOwl:hasExactSynonym "cancer of sternum" MONDO:0003273 oboInOwl:hasExactSynonym "malignant sternum neoplasm" MONDO:0003273 oboInOwl:hasExactSynonym "malignant neoplasm of sternum" MONDO:0003273 oboInOwl:hasExactSynonym "malignant sternal neoplasm" +MONDO:0005021 oboInOwl:hasExactSynonym "dilated cardiomyopathy" +MONDO:0000050 oboInOwl:hasExactSynonym "congenital isolated growth hormone deficiency" +MONDO:0000050 oboInOwl:hasExactSynonym "ICGHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0000050 oboInOwl:hasExactSynonym "congenital IGHD" +MONDO:0000050 oboInOwl:hasExactSynonym "IGHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0000050 oboInOwl:hasExactSynonym "congenital isolated GH deficiency" +MONDO:0000050 oboInOwl:hasExactSynonym "familial isolated growth hormone deficiency" +MONDO:0000050 oboInOwl:hasExactSynonym "isolated growth hormone deficiency" MONDO:0008538 oboInOwl:hasExactSynonym "inflammation of temporal artery" MONDO:0008538 oboInOwl:hasExactSynonym "Horton disease" MONDO:0008538 oboInOwl:hasExactSynonym "giant cell arteritis" @@ -116980,6 +117718,7 @@ MONDO:0007864 oboInOwl:hasExactSynonym "haemangiectatic hypertrophy" MONDO:0007864 oboInOwl:hasExactSynonym "Klippel-Trénaunay syndrome" MONDO:0007864 oboInOwl:hasExactSynonym "angioosteohypertrophy syndrome" MONDO:0007864 oboInOwl:hasExactSynonym "Weber-Klippel-Trenaunay" +MONDO:0007864 oboInOwl:hasExactSynonym "Klippel-Trenaunay-Weber syndrome, Isolated cases" MONDO:0007864 oboInOwl:hasExactSynonym "Klippel Trenaunay syndrome" MONDO:0007864 oboInOwl:hasExactSynonym "Klippel-Trenaunay-Weber syndrome" MONDO:0007864 oboInOwl:hasExactSynonym "Klippel-Trénaunay-Weber syndrome" @@ -117013,6 +117752,7 @@ MONDO:0006462 oboInOwl:hasExactSynonym "primary thyroid gland diffuse large B-ce MONDO:0006462 oboInOwl:hasExactSynonym "diffuse large B-cell lymphoma of the thyroid" MONDO:0018961 oboInOwl:hasExactSynonym "hereditary melanoma (disease)" CL:1000284 oboInOwl:hasExactSynonym "non-striated muscle fiber of descending colon" +MONDO:0008725 oboInOwl:hasExactSynonym "lipoid adrenal hyperplasia" MONDO:0008725 oboInOwl:hasExactSynonym "CLAH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044014 oboInOwl:hasExactSynonym "postpartum thyroiditis" MONDO:0014217 oboInOwl:hasExactSynonym "GDF2 hereditary hemorrhagic telangiectasia" @@ -117077,6 +117817,7 @@ MONDO:0014083 oboInOwl:hasExactSynonym "PIK3R1 autosomal agammaglobulinemia" MONDO:0014083 oboInOwl:hasExactSynonym "agammaglobulinemia 7, autosomal recessive" MONDO:0014083 oboInOwl:hasExactSynonym "autosomal agammaglobulinemia caused by mutation in PIK3R1" MONDO:0010443 oboInOwl:hasExactSynonym "macular degeneration, X-linked atrophic" +MONDO:0010443 oboInOwl:hasExactSynonym "macular degeneration, X-linked atrophic, X-linked recessive" MONDO:0005754 oboInOwl:hasExactSynonym "tonic-clonic epilepsy" MONDO:0005754 oboInOwl:hasExactSynonym "grand Mal epilepsy" MONDO:0005754 oboInOwl:hasExactSynonym "epileptic seizures, tonic-clonic" @@ -117115,12 +117856,13 @@ MONDO:0004995 oboInOwl:hasExactSynonym "disorder of cardiovascular system" MONDO:0004995 oboInOwl:hasExactSynonym "cardiovascular disorder" MONDO:0004995 oboInOwl:hasExactSynonym "disease of cardiovascular system" MONDO:0004995 oboInOwl:hasExactSynonym "cardiovascular system disease or disorder" -MONDO:0014270 oboInOwl:hasExactSynonym "CDG1W" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014270 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type Iw" MONDO:0014270 oboInOwl:hasExactSynonym "CDG-Iw" MONDO:0014270 oboInOwl:hasExactSynonym "CDG syndrome type Iw" MONDO:0014270 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type 1w" MONDO:0014270 oboInOwl:hasExactSynonym "STT3A-CDG" +MONDO:0014270 oboInOwl:hasExactSynonym "congenital disorder of glycosylation, type Iw, autosomal recessive" +MONDO:0014270 oboInOwl:hasExactSynonym "CDG1W" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002951 oboInOwl:hasExactSynonym "skin adenoid basal cell carcinoma" MONDO:0002951 oboInOwl:hasExactSynonym "adenoid basal cell carcinoma" CHEBI:33552 oboInOwl:hasExactSynonym "sulfonic acid derivative" @@ -117153,6 +117895,7 @@ MONDO:0007452 oboInOwl:hasExactSynonym "MODY1" http://purl.obolibrary.org/obo/mo MONDO:0007452 oboInOwl:hasExactSynonym "hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes" MONDO:0007452 oboInOwl:hasExactSynonym "MODY type 1" MONDO:0007452 oboInOwl:hasExactSynonym "maturity onset diabetes of the Young, type 1" +MONDO:0007452 oboInOwl:hasExactSynonym "MODY, type I" MONDO:0007452 oboInOwl:hasExactSynonym "mild juvenile diabetes mellitus" MONDO:0014491 oboInOwl:hasExactSynonym "immunodeficiency type 37" MONDO:0014491 oboInOwl:hasExactSynonym "BCL10 primary immunodeficiency disease" @@ -117191,8 +117934,8 @@ MONDO:0600005 oboInOwl:hasExactSynonym "IgE-mediated venom hypersensitivity" MONDO:0030878 oboInOwl:hasExactSynonym "KABAMAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001094 oboInOwl:hasExactSynonym "open-angle glaucoma residual stage" MONDO:0001094 oboInOwl:hasExactSynonym "residual stage of open angle glaucoma" -MONDO:0043237 oboInOwl:hasExactSynonym "glossodynia" MONDO:0044795 oboInOwl:hasExactSynonym "epithelioid cell nevus" +MONDO:0043237 oboInOwl:hasExactSynonym "glossodynia" MONDO:0004808 oboInOwl:hasExactSynonym "benign mammary dysplasia" GO:0045617 oboInOwl:hasExactSynonym "down regulation of keratinocyte differentiation" GO:0045617 oboInOwl:hasExactSynonym "down-regulation of keratinocyte differentiation" @@ -117250,6 +117993,7 @@ MONDO:0003945 oboInOwl:hasExactSynonym "bone epithelioid hemangioma" MONDO:0003945 oboInOwl:hasExactSynonym "bone hemangioma" MONDO:0003945 oboInOwl:hasExactSynonym "hemangioma of bone" MONDO:0007044 oboInOwl:hasExactSynonym "acrodysostosis 1" +MONDO:0007044 oboInOwl:hasExactSynonym "acrodysostosis 1, with or without hormone resistance" MONDO:0007044 oboInOwl:hasExactSynonym "acrodysostosis 1 with or without hormone resistance" MONDO:0015673 oboInOwl:hasExactSynonym "rare heart neoplasm" MONDO:0005052 oboInOwl:hasExactSynonym "IBD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -117258,6 +118002,7 @@ MONDO:0005052 oboInOwl:hasExactSynonym "mucus colitis" MONDO:0005052 oboInOwl:hasExactSynonym "IBS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005052 oboInOwl:hasExactSynonym "spastic colon" MONDO:0005052 oboInOwl:hasExactSynonym "irritable bowel syndrome" +MONDO:0009643 oboInOwl:hasExactSynonym "molybdenum cofactor deficiency A" MONDO:0009643 oboInOwl:hasExactSynonym "molybdenum cofactor deficiency complementation group A" MONDO:0009643 oboInOwl:hasExactSynonym "MOCOD type A" MONDO:0009643 oboInOwl:hasExactSynonym "MOCODA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -117300,6 +118045,7 @@ MONDO:0008884 oboInOwl:hasExactSynonym "anodontia-hypotrichosis syndrome" MONDO:0008884 oboInOwl:hasExactSynonym "BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM" MONDO:0008884 oboInOwl:hasExactSynonym "oculoosteocutaneous syndrome" MONDO:0009830 oboInOwl:hasExactSynonym "parkinsonian-pyramidal syndrome" +MONDO:0009830 oboInOwl:hasExactSynonym "Parkinson disease 15, autosomal recessive" MONDO:0009830 oboInOwl:hasExactSynonym "Pallidopyramidal syndrome" MONDO:0009830 oboInOwl:hasExactSynonym "autosomal recessive early-onset Parkinson disease type 15" MONDO:0009830 oboInOwl:hasExactSynonym "autosomal recessive early-onset Parkinson disease 15" @@ -117313,6 +118059,7 @@ MONDO:0010079 oboInOwl:hasExactSynonym "aspartoacylase deficiency" MONDO:0010079 oboInOwl:hasExactSynonym "spongy degeneration of central nervous system" GO:0036211 oboInOwl:hasExactSynonym "protein modification" MONDO:0011025 oboInOwl:hasExactSynonym "Cayman cerebellar ataxia" +MONDO:0011025 oboInOwl:hasExactSynonym "ataxia, cerebellar, Cayman type" MONDO:0011025 oboInOwl:hasExactSynonym "Cayman type cerebellar ataxia" MONDO:0011025 oboInOwl:hasExactSynonym "Cayman ataxia" MONDO:0002730 oboInOwl:hasExactSynonym "childhood renal neoplasm" @@ -117325,6 +118072,7 @@ MONDO:0002730 oboInOwl:hasExactSynonym "pediatric kidney neoplasm" MONDO:0002730 oboInOwl:hasExactSynonym "pediatric kidney tumor" MONDO:0002730 oboInOwl:hasExactSynonym "childhood kidney neoplasm" MONDO:0014904 oboInOwl:hasExactSynonym "congenital disorder of glycosylation, type IAA; CDG1AA" +MONDO:0014904 oboInOwl:hasExactSynonym "congenital disorder of glycosylation, type 1aa" MONDO:0014904 oboInOwl:hasExactSynonym "congenital disorder of glycosylation, type IAA" MONDO:0014904 oboInOwl:hasExactSynonym "CDG1AA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054733 oboInOwl:hasExactSynonym "spermatogenic failure 29" @@ -117357,7 +118105,6 @@ GO:0022618 oboInOwl:hasExactSynonym "RNA-protein complex assembly" CL:0000961 oboInOwl:hasExactSynonym "Bm1 B lymphocyte" CL:0000961 oboInOwl:hasExactSynonym "Bm1 B-cell" CL:0000961 oboInOwl:hasExactSynonym "Bm1 B-lymphocyte" -MONDO:0001493 oboInOwl:hasExactSynonym "Cor pulmonale" MONDO:0013868 oboInOwl:hasExactSynonym "POROK7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013868 oboInOwl:hasExactSynonym "porokeratosis 7, multiple types" MONDO:0013868 oboInOwl:hasExactSynonym "porokeratosis 7, disseminated superficial actinic type" @@ -117432,6 +118179,7 @@ MONDO:0020094 oboInOwl:hasExactSynonym "autosomal dominant disease with diffuse NCBITaxon:11077 oboInOwl:hasExactSynonym "West Nile virus - Kunjin" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name MONDO:0009808 oboInOwl:hasExactSynonym "osteoid osteoma (disease)" MONDO:0009808 oboInOwl:hasExactSynonym "osteoid osteoma" +MONDO:0010248 oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive" MONDO:0010248 oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia, X-linked" MONDO:0003125 oboInOwl:hasExactSynonym "testicular sex cord-stromal neoplasm" MONDO:0003125 oboInOwl:hasExactSynonym "sex cord-stromal tumor of testis" @@ -117445,13 +118193,14 @@ MONDO:0004496 oboInOwl:hasExactSynonym "inflammation of myocardium" MONDO:0004496 oboInOwl:hasExactSynonym "myocardium inflammation" HP:0002063 oboInOwl:hasExactSynonym "Muscle rigidity" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0002063 oboInOwl:hasExactSynonym "Rigidity" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0007895 oboInOwl:hasExactSynonym "platyspondylic skeletal dysplasia, Torrance type" MONDO:0007895 oboInOwl:hasExactSynonym "Platyspondylic dysplasia, Torrance-Luton type" MONDO:0007895 oboInOwl:hasExactSynonym "Platyspondylic lethal skeletal dysplasia, Torrance type" MONDO:0007895 oboInOwl:hasExactSynonym "PLSD-T" MONDO:0007895 oboInOwl:hasExactSynonym "platyspondylic dysplasia, Torrance type" MONDO:0012429 oboInOwl:hasExactSynonym "Aicardi-Goutieres syndrome caused by mutation in RNASEH2B" -MONDO:0012429 oboInOwl:hasExactSynonym "Aicardi-Goutieres syndrome 2" MONDO:0012429 oboInOwl:hasExactSynonym "Aicardi-Goutieres syndrome type 2" +MONDO:0012429 oboInOwl:hasExactSynonym "Aicardi-Goutieres syndrome 2" MONDO:0012429 oboInOwl:hasExactSynonym "RNASEH2B Aicardi-Goutieres syndrome" MONDO:0001133 oboInOwl:hasExactSynonym "accelerated essential hypertension" MONDO:0001133 oboInOwl:hasExactSynonym "malignant essential hypertension" @@ -117469,6 +118218,7 @@ MONDO:0005724 oboInOwl:hasExactSynonym "Cryptococcal infection" MONDO:0019959 oboInOwl:hasExactSynonym "glucagonoma" MONDO:0019959 oboInOwl:hasExactSynonym "pancreatic glucagonoma" MONDO:0019959 oboInOwl:hasExactSynonym "glucagonoma syndrome" +MONDO:0014075 oboInOwl:hasExactSynonym "cataract 39, multiple types, autosomal dominant" MONDO:0014075 oboInOwl:hasExactSynonym "early-onset non-syndromic cataract caused by mutation in CRYGB" MONDO:0014075 oboInOwl:hasExactSynonym "autosomal dominant cataract 39 multiple types" MONDO:0014075 oboInOwl:hasExactSynonym "CTRCT39" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -117487,8 +118237,8 @@ ECTO:0000980 oboInOwl:hasExactSynonym "temperature of air exposure" MONDO:0007903 oboInOwl:hasExactSynonym "Li-Fraumeni syndrome 1" MONDO:0007903 oboInOwl:hasExactSynonym "TP53 Li-Fraumeni syndrome" MONDO:0007903 oboInOwl:hasExactSynonym "Li-Fraumeni syndrome type 1" -MONDO:0007903 oboInOwl:hasExactSynonym "LFS3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007903 oboInOwl:hasExactSynonym "Li-Fraumeni syndrome caused by mutation in TP53" +MONDO:0007903 oboInOwl:hasExactSynonym "LFS3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017187 oboInOwl:hasExactSynonym "hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form" MONDO:0017844 oboInOwl:hasExactSynonym "Sezary lymphoma" MONDO:0017844 oboInOwl:hasExactSynonym "CTCL / Sezary syndrome" @@ -117564,6 +118314,7 @@ MONDO:0014933 oboInOwl:hasExactSynonym "EIEE44" http://purl.obolibrary.org/obo/m MONDO:0014933 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in UBA5" MONDO:0014933 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 44; EIEE44" MONDO:0014933 oboInOwl:hasExactSynonym "UBA5 early infantile epileptic encephalopathy" +MONDO:0014933 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 44" MONDO:0014933 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 44" MONDO:0014933 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 44" MONDO:0004440 oboInOwl:hasExactSynonym "pineal area meningioma" @@ -117578,6 +118329,9 @@ MONDO:0004440 oboInOwl:hasExactSynonym "meningioma of the pineal gland" MONDO:0004440 oboInOwl:hasExactSynonym "meningioma of pineal area" MONDO:0004440 oboInOwl:hasExactSynonym "pineal gland meningioma" MONDO:0013363 oboInOwl:hasExactSynonym "chromosome 2q31.1 duplication syndrome" +MONDO:0013363 oboInOwl:hasExactSynonym "2q31.1 microduplication syndrome" +MONDO:0013363 oboInOwl:hasExactSynonym "trisomy 2q31.1" +MONDO:0013363 oboInOwl:hasExactSynonym "dup(2)(q31.1)" MONDO:0024304 oboInOwl:hasExactSynonym "ichthyosis vulgaris" MONDO:0003243 oboInOwl:hasExactSynonym "hepatocellular clear cell carcinoma" MONDO:0003243 oboInOwl:hasExactSynonym "clear cell hepatocellular carcinoma" @@ -117597,6 +118351,7 @@ MONDO:0005881 oboInOwl:hasExactSynonym "delivered oligohydramnios" MONDO:0005881 oboInOwl:hasExactSynonym "oligohydramnios" MONDO:0005881 oboInOwl:hasExactSynonym "oligohydramnios - delivered" MONDO:0010413 oboInOwl:hasExactSynonym "intellectual disability, X-linked 95" +MONDO:0010413 oboInOwl:hasExactSynonym "mental retardation, X-linked 95, X-linked dominant" MONDO:0010413 oboInOwl:hasExactSynonym "MRX95" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019257 oboInOwl:hasExactSynonym "JHH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019257 oboInOwl:hasExactSynonym "HFE2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -117622,17 +118377,22 @@ MONDO:0016748 oboInOwl:hasExactSynonym "angioblastoma" MONDO:0016748 oboInOwl:hasExactSynonym "capillary hemangioblastoma" MONDO:0016748 oboInOwl:hasExactSynonym "hemangioblastoma" MONDO:0007201 oboInOwl:hasExactSynonym "blepharophimosis, ptosis, and epicanthus inversus syndrome" +MONDO:0007201 oboInOwl:hasExactSynonym "blepharophimosis, epicanthus inversus, and ptosis, type 1" +MONDO:0007201 oboInOwl:hasExactSynonym "blepharophimosis, epicanthus inversus, and ptosis, type 2" MONDO:0007201 oboInOwl:hasExactSynonym "blepharophimosis types 1 and 2" MONDO:0004815 oboInOwl:hasExactSynonym "osteosclerotic multiple myeloma" MONDO:0004815 oboInOwl:hasExactSynonym "osteosclerotic plasma cell myeloma" MONDO:0009327 oboInOwl:hasExactSynonym "heart, malformation of" +MONDO:0003789 oboInOwl:hasExactSynonym "renal cell carcinoma, papillary" MONDO:0003789 oboInOwl:hasExactSynonym "hereditary papillary renal cell cancer" MONDO:0003789 oboInOwl:hasExactSynonym "familial renal papillary carcinoma" MONDO:0003789 oboInOwl:hasExactSynonym "hereditary kidney papillary carcinoma" MONDO:0003789 oboInOwl:hasExactSynonym "hereditary papillary renal carcinoma" MONDO:0003789 oboInOwl:hasExactSynonym "hereditary papillary renal cell carcinoma" MONDO:0003789 oboInOwl:hasExactSynonym "hereditary papillary carcinoma of kidney" +MONDO:0003789 oboInOwl:hasExactSynonym "renal cell carcinoma, papillary, 1, familial and somatic" MONDO:0003789 oboInOwl:hasExactSynonym "hereditary papillary carcinoma of the kidney" +MONDO:0010381 oboInOwl:hasExactSynonym "Tn polyagglutination syndrome, somatic" MONDO:0010381 oboInOwl:hasExactSynonym "Tn polyagglutination syndrome" MONDO:0021510 oboInOwl:hasExactSynonym "prostate gland benign neoplasm" MONDO:0021510 oboInOwl:hasExactSynonym "benign prostate neoplasm" @@ -117657,6 +118417,7 @@ MONDO:0044342 oboInOwl:hasExactSynonym "intervertebral disc degenerative disorde MONDO:0044342 oboInOwl:hasExactSynonym "thoracic Disc degenerative disease" MONDO:0011854 oboInOwl:hasExactSynonym "secretory diarrhea, myopathy, and deafness" MONDO:0010600 oboInOwl:hasExactSynonym "CDGX" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010600 oboInOwl:hasExactSynonym "chronic granulomatous disease, X-linked, X-linked recessive" MONDO:0010600 oboInOwl:hasExactSynonym "cytochrome B-negative granulomatous disease, chronic, X-linked" MONDO:0010600 oboInOwl:hasExactSynonym "chronic granulomatous disease, atypical" MONDO:0010600 oboInOwl:hasExactSynonym "granulomatous disease, chronic, X-linked" @@ -117695,6 +118456,7 @@ MONDO:0008116 oboInOwl:hasExactSynonym "OPMD" http://purl.obolibrary.org/obo/mon MONDO:0008116 oboInOwl:hasExactSynonym "muscular dystrophy, oculopharyngeal" MONDO:0018793 oboInOwl:hasExactSynonym "type 1 condylar hyperplasia" MONDO:0009674 oboInOwl:hasExactSynonym "muscular dystrophy, adult-onset, with leukoencephalopathy" +MONDO:0007630 oboInOwl:hasExactSynonym "macular dystrophy 1, North Carolina type" MONDO:0007630 oboInOwl:hasExactSynonym "NCMD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007630 oboInOwl:hasExactSynonym "progressive foveal dystrophy" MONDO:0007630 oboInOwl:hasExactSynonym "caped" @@ -117712,6 +118474,7 @@ MONDO:0024556 oboInOwl:hasExactSynonym "epilepsy, familial focal, with variable CL:0000649 oboInOwl:hasExactSynonym "prickle cell of epidermis" GO:0006468 oboInOwl:hasExactSynonym "protein amino acid phosphorylation" MONDO:0006988 oboInOwl:hasExactSynonym "Sulfemoglobinemia" +MONDO:0007934 oboInOwl:hasExactSynonym "retinitis pigmentosa 91" MONDO:0011184 oboInOwl:hasExactSynonym "speech-language disorder type 1" MONDO:0011184 oboInOwl:hasExactSynonym "developmental verbal dyspraxia" MONDO:0011184 oboInOwl:hasExactSynonym "speech and language disorder with orofacial dyspraxia" @@ -117733,6 +118496,7 @@ MONDO:0011403 oboInOwl:hasExactSynonym "left ventricular noncompaction type 1" MONDO:0011403 oboInOwl:hasExactSynonym "DTNA left ventricular noncompaction" MONDO:0011403 oboInOwl:hasExactSynonym "left ventricular noncompaction caused by mutation in DTNA" MONDO:0011403 oboInOwl:hasExactSynonym "left ventricular noncompaction 1" +MONDO:0011403 oboInOwl:hasExactSynonym "left ventricular noncompaction 1, with or without congenital heart defects" MONDO:0014802 oboInOwl:hasExactSynonym "Cowden syndrome type 7" MONDO:0014802 oboInOwl:hasExactSynonym "Cowden syndrome 7" MONDO:0014802 oboInOwl:hasExactSynonym "Cowden disease caused by mutation in SEC23B" @@ -117757,6 +118521,7 @@ MONDO:0016919 oboInOwl:hasExactSynonym "partial deletion of chromosome 21q" MONDO:0016919 oboInOwl:hasExactSynonym "partial monosomy of chromosome 21q" MONDO:0012586 oboInOwl:hasExactSynonym "coronary artery disease caused by mutation in LRP6" MONDO:0012586 oboInOwl:hasExactSynonym "coronary artery disease, autosomal dominant type 2" +MONDO:0012586 oboInOwl:hasExactSynonym "coronary artery disease, autosomal dominant, 2" MONDO:0012586 oboInOwl:hasExactSynonym "LRP6 coronary artery disease" MONDO:0012586 oboInOwl:hasExactSynonym "coronary artery disease, autosomal dominant 2" MONDO:0016410 oboInOwl:hasExactSynonym "secondary hypothyroidism" @@ -117765,6 +118530,7 @@ MONDO:0016410 oboInOwl:hasExactSynonym "central hypothyroidism" MONDO:0016410 oboInOwl:hasExactSynonym "thyroid stimulating hormone deficiency" MONDO:0016410 oboInOwl:hasExactSynonym "TSH deficiency" MONDO:0016410 oboInOwl:hasExactSynonym "thyrotropin deficiency" +MONDO:0013532 oboInOwl:hasExactSynonym "protein z deficiency" MONDO:0013532 oboInOwl:hasExactSynonym "protein Z deficiency" MONDO:0011371 oboInOwl:hasExactSynonym "hereditary hydroa vacciniforme" MONDO:0011371 oboInOwl:hasExactSynonym "hydroa vacciniforme, familial" @@ -117778,13 +118544,13 @@ MONDO:0000429 oboInOwl:hasExactSynonym "autosomal inherited disorder" MONDO:0012844 oboInOwl:hasExactSynonym "primary ciliary dyskinesia 8 with or without situs inversus" MONDO:0012844 oboInOwl:hasExactSynonym "primary ciliary dyskinesia type 8" MONDO:0012844 oboInOwl:hasExactSynonym "CILD8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0024265 oboInOwl:hasExactSynonym "DURS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0024265 oboInOwl:hasExactSynonym "Duane retraction syndrome 1" MONDO:0100082 oboInOwl:hasExactSynonym "LEOPARD syndrome 1" MONDO:0100082 oboInOwl:hasExactSynonym "multiple lentigines syndrome" MONDO:0100082 oboInOwl:hasExactSynonym "LPRD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100082 oboInOwl:hasExactSynonym "lentiginosis, cardiomyopathic" MONDO:0100082 oboInOwl:hasExactSynonym "LEOPARD syndrome type 1" -MONDO:0024265 oboInOwl:hasExactSynonym "DURS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0024265 oboInOwl:hasExactSynonym "Duane retraction syndrome 1" GO:1900372 oboInOwl:hasExactSynonym "downregulation of purine nucleotide biosynthetic process" GO:1900372 oboInOwl:hasExactSynonym "downregulation of purine nucleotide formation" GO:1900372 oboInOwl:hasExactSynonym "down regulation of purine nucleotide formation" @@ -117797,27 +118563,27 @@ GO:1900372 oboInOwl:hasExactSynonym "negative regulation of purine nucleotide sy GO:1900372 oboInOwl:hasExactSynonym "down regulation of purine nucleotide biosynthetic process" GO:1900372 oboInOwl:hasExactSynonym "down-regulation of purine nucleotide biosynthetic process" GO:1900372 oboInOwl:hasExactSynonym "inhibition of purine nucleotide biosynthesis" -GO:1900372 oboInOwl:hasExactSynonym "negative regulation of purine nucleotide formation" GO:1900372 oboInOwl:hasExactSynonym "down-regulation of purine nucleotide biosynthesis" -GO:1900372 oboInOwl:hasExactSynonym "negative regulation of purine nucleotide biosynthesis" +GO:1900372 oboInOwl:hasExactSynonym "negative regulation of purine nucleotide formation" GO:1900372 oboInOwl:hasExactSynonym "downregulation of purine nucleotide synthesis" GO:1900372 oboInOwl:hasExactSynonym "down regulation of purine nucleotide anabolism" GO:1900372 oboInOwl:hasExactSynonym "negative regulation of purine nucleotide anabolism" GO:1900372 oboInOwl:hasExactSynonym "inhibition of purine nucleotide synthesis" GO:1900372 oboInOwl:hasExactSynonym "inhibition of purine nucleotide formation" +GO:1900372 oboInOwl:hasExactSynonym "negative regulation of purine nucleotide biosynthesis" GO:1900372 oboInOwl:hasExactSynonym "downregulation of purine nucleotide anabolism" GO:1900372 oboInOwl:hasExactSynonym "down-regulation of purine nucleotide anabolism" GO:1900372 oboInOwl:hasExactSynonym "down-regulation of purine nucleotide formation" MONDO:0010415 oboInOwl:hasExactSynonym "myopathy, reducing body, X-linked, childhood-onset" -MONDO:0015515 oboInOwl:hasExactSynonym "lethal neonatal carnitine palmitoyltransferase II deficiency" -MONDO:0015515 oboInOwl:hasExactSynonym "late-onset carnitine palmitoyltransferase II deficiency" -MONDO:0015515 oboInOwl:hasExactSynonym "infantile carnitine palmitoyltransferase II deficiency" -MONDO:0015515 oboInOwl:hasExactSynonym "CPTII" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015515 oboInOwl:hasExactSynonym "carnitine palmitoyltransferase II deficiency" -MONDO:0015515 oboInOwl:hasExactSynonym "CPT-II" +MONDO:0015515 oboInOwl:hasExactSynonym "Carnitine palmitoyltransferase deficiency type 2" +MONDO:0015515 oboInOwl:hasExactSynonym "late-onset carnitine palmitoyltransferase II deficiency" MONDO:0015515 oboInOwl:hasExactSynonym "CPT2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0015515 oboInOwl:hasExactSynonym "CPT-II" MONDO:0015515 oboInOwl:hasExactSynonym "CPT II deficiency" -MONDO:0015515 oboInOwl:hasExactSynonym "Carnitine palmitoyltransferase deficiency type 2" +MONDO:0015515 oboInOwl:hasExactSynonym "infantile carnitine palmitoyltransferase II deficiency" +MONDO:0015515 oboInOwl:hasExactSynonym "lethal neonatal carnitine palmitoyltransferase II deficiency" +MONDO:0015515 oboInOwl:hasExactSynonym "CPTII" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004605 oboInOwl:hasExactSynonym "callous ulcer (morphologic abnormality)" MONDO:0004605 oboInOwl:hasExactSynonym "callous ulcer" MONDO:0004605 oboInOwl:hasExactSynonym "indolent ulcer (morphologic abnormality)" @@ -117828,6 +118594,7 @@ MONDO:0016393 oboInOwl:hasExactSynonym "Bosma arhinia-microphthalmia syndrome" MONDO:0004817 oboInOwl:hasExactSynonym "non-secretory multiple myeloma" MONDO:0004817 oboInOwl:hasExactSynonym "non-secretory plasma cell myeloma" MONDO:0019593 oboInOwl:hasExactSynonym "46,XX DSD induced by fetal androgens excess" +MONDO:0054695 oboInOwl:hasExactSynonym "centronuclear myopathy 6 with fiber-type disproportion" MONDO:0054695 oboInOwl:hasExactSynonym "myopathy, centronuclear, 6, with fiber-type disproportion" MONDO:0003087 oboInOwl:hasExactSynonym "mucoepidermoid carcinoma of breast" MONDO:0003087 oboInOwl:hasExactSynonym "mucoepidermoid carcinoma of the breast" @@ -117895,6 +118662,7 @@ HP:0001997 oboInOwl:hasExactSynonym "Gouty arthritis" MONDO:0015338 oboInOwl:hasExactSynonym "syndrome associated with craniosynostosis" MONDO:0015338 oboInOwl:hasExactSynonym "syndromic craniosynostosis" MONDO:0010186 oboInOwl:hasExactSynonym "vitamin D-dependent rickets, type 2A" +MONDO:0010186 oboInOwl:hasExactSynonym "rickets, vitamin D-resistant, type IIA" MONDO:0010186 oboInOwl:hasExactSynonym "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia" MONDO:0010186 oboInOwl:hasExactSynonym "vitamin D dependent rickets 2a" MONDO:0010186 oboInOwl:hasExactSynonym "vitamin D-dependent rickets, type 2 caused by mutation in VDR" @@ -117920,6 +118688,7 @@ MONDO:0014617 oboInOwl:hasExactSynonym "autosomal dominant mental retardation 38 MONDO:0014617 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant type 38" MONDO:0012365 oboInOwl:hasExactSynonym "GBD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012365 oboInOwl:hasExactSynonym "gallbladder disease 2" +MONDO:0014218 oboInOwl:hasExactSynonym "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE" MONDO:0014218 oboInOwl:hasExactSynonym "congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome" MONDO:0014218 oboInOwl:hasExactSynonym "SAM syndrome" GO:0015291 oboInOwl:hasExactSynonym "secondary carrier-type facilitators" @@ -117932,10 +118701,10 @@ GO:0072350 oboInOwl:hasExactSynonym "tricarboxylic acid metabolism" MONDO:0003495 oboInOwl:hasExactSynonym "ovary squamous cell neoplasm" MONDO:0003495 oboInOwl:hasExactSynonym "ovarian squamous cell neoplasm" MONDO:0003495 oboInOwl:hasExactSynonym "ovarian squamous cell tumor" +MONDO:0017853 oboInOwl:hasExactSynonym "HP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017853 oboInOwl:hasExactSynonym "exogen allergic alveolitis" MONDO:0017853 oboInOwl:hasExactSynonym "extrinsic allergic alveolitis" MONDO:0017853 oboInOwl:hasExactSynonym "hypersensitivity pneumonitis" -MONDO:0017853 oboInOwl:hasExactSynonym "HP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004314 oboInOwl:hasExactSynonym "malignant granular cell neoplasm of the skin" MONDO:0004314 oboInOwl:hasExactSynonym "malignant cutaneous granular cell tumor" MONDO:0004314 oboInOwl:hasExactSynonym "malignant granular cell neoplasm of skin" @@ -117962,11 +118731,12 @@ MONDO:0012846 oboInOwl:hasExactSynonym "generalized epilepsy with febrile seizur MONDO:0060759 oboInOwl:hasExactSynonym "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome" MONDO:0060759 oboInOwl:hasExactSynonym "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" MONDO:0007453 oboInOwl:hasExactSynonym "MODY type 2" +MONDO:0007453 oboInOwl:hasExactSynonym "MODY, type II" MONDO:0007453 oboInOwl:hasExactSynonym "MODY glucokinase-related" MONDO:0007453 oboInOwl:hasExactSynonym "MODY 2 monogenic diabetes type 2" MONDO:0007453 oboInOwl:hasExactSynonym "maturity-onset diabetes of the young (disease) caused by mutation in GCK" -MONDO:0007453 oboInOwl:hasExactSynonym "maturity onset diabetes of the Young, type 2" MONDO:0007453 oboInOwl:hasExactSynonym "glucokinase-associated diabetes mellitus" +MONDO:0007453 oboInOwl:hasExactSynonym "maturity onset diabetes of the Young, type 2" MONDO:0007453 oboInOwl:hasExactSynonym "MODY2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007453 oboInOwl:hasExactSynonym "GCK maturity-onset diabetes of the young (disease)" MONDO:0007453 oboInOwl:hasExactSynonym "GCK-associated diabetes mellitus" @@ -117979,6 +118749,7 @@ GO:0051057 oboInOwl:hasExactSynonym "up regulation of small GTPase mediated sign HP:0002102 oboInOwl:hasExactSynonym "Inflammation of tissues lining lungs and chest" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0002102 oboInOwl:hasExactSynonym "Pleurisy" MONDO:0012623 oboInOwl:hasExactSynonym "MRT4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012623 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive, 4" MONDO:0012623 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 4" MONDO:0054591 oboInOwl:hasExactSynonym "Stankiewicz-Isidor syndrome" MONDO:0019404 oboInOwl:hasExactSynonym "perineurioma" @@ -118023,6 +118794,7 @@ MONDO:0010665 oboInOwl:hasExactSynonym "X-linked intellectual disability-gynecom MONDO:0010665 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic 6" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010665 oboInOwl:hasExactSynonym "MRXS6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010665 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndromic 6" +MONDO:0010665 oboInOwl:hasExactSynonym "Wilson-Turner syndrome, X-linked recessive" MONDO:0010665 oboInOwl:hasExactSynonym "intellectual disability, X-linked, with gynecomastia and obesity" MONDO:0010665 oboInOwl:hasExactSynonym "WTS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:30411 oboInOwl:hasExactSynonym "cobalamin" @@ -118051,12 +118823,14 @@ MONDO:0011176 oboInOwl:hasExactSynonym "HOMG1" http://purl.obolibrary.org/obo/mo MONDO:0011176 oboInOwl:hasExactSynonym "hypomagnesemia caused by selective magnesium malabsorption" MONDO:0001095 oboInOwl:hasExactSynonym "mediastinum neuroblastoma" MONDO:0001095 oboInOwl:hasExactSynonym "neuroblastoma of mediastinum" +MONDO:0008329 oboInOwl:hasExactSynonym "pseudohypoaldosteronism type i, autosomal dominant" MONDO:0008329 oboInOwl:hasExactSynonym "PHA1A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008329 oboInOwl:hasExactSynonym "autosomal dominant PHA 1" MONDO:0008329 oboInOwl:hasExactSynonym "autosomal dominant pseudohypoaldosteronism type 1" GO:0071825 oboInOwl:hasExactSynonym "protein-lipid complex subunit organisation" MONDO:0013355 oboInOwl:hasExactSynonym "CDA IV" MONDO:0013355 oboInOwl:hasExactSynonym "congenital dyserythropoietic anemia due to KLF1 mutation" +MONDO:0013355 oboInOwl:hasExactSynonym "dyserythropoietic anemia, congenital, type IV" MONDO:0013355 oboInOwl:hasExactSynonym "CDA type IV" MONDO:0013355 oboInOwl:hasExactSynonym "CDA type 4" MONDO:0013355 oboInOwl:hasExactSynonym "congenital dyserythropoietic anemia type 4" @@ -118077,10 +118851,12 @@ MONDO:0021101 oboInOwl:hasExactSynonym "malignant appendiceal glucagonoma" MONDO:0021101 oboInOwl:hasExactSynonym "vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumor" NCBITaxon:169440 oboInOwl:hasExactSynonym "seaweed flies" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name NCBITaxon:169440 oboInOwl:hasExactSynonym "kelp flies" http://purl.obolibrary.org/obo/ncbitaxon#common_name +MONDO:0012039 oboInOwl:hasExactSynonym "myocardial infarction, decreased susceptibility to" MONDO:0012039 oboInOwl:hasExactSynonym "myocardial infarction, susceptibility to" MONDO:0014796 oboInOwl:hasExactSynonym "autosomal recessive early-onset Parksinson disease type 23" MONDO:0014796 oboInOwl:hasExactSynonym "autosomal recessive early-onset Parkinson disease 23" MONDO:0014796 oboInOwl:hasExactSynonym "Parkinson disease 23, autosomal recessive early-onset" +MONDO:0014796 oboInOwl:hasExactSynonym "Parkinson disease 23, autosomal recessive, early onset" MONDO:0014796 oboInOwl:hasExactSynonym "VPS13C young-onset Parkinson disease" MONDO:0014796 oboInOwl:hasExactSynonym "young-onset Parkinson disease caused by mutation in VPS13C" MONDO:0014796 oboInOwl:hasExactSynonym "PARK23" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -118124,9 +118900,9 @@ MONDO:0000909 oboInOwl:hasExactSynonym "BARTS4B" http://purl.obolibrary.org/obo/ MONDO:0000909 oboInOwl:hasExactSynonym "Bartter syndrome, type 4B" MONDO:0000909 oboInOwl:hasExactSynonym "Bartter disease type 4B" MONDO:0019795 oboInOwl:hasExactSynonym "Acrania" -MONDO:0008242 oboInOwl:hasExactSynonym "photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" MONDO:0031481 oboInOwl:hasExactSynonym "MEDS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0031481 oboInOwl:hasExactSynonym "primary microcephaly-epilepsy-permanent neonatal diabetes syndrome" +MONDO:0008242 oboInOwl:hasExactSynonym "photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" MONDO:0700070 oboInOwl:hasExactSynonym "POMT1-related myopathy" MONDO:0700070 oboInOwl:hasExactSynonym "myopathy caused by mutation in POMT1" MONDO:0700070 oboInOwl:hasExactSynonym "POMT1 myopathy" @@ -118161,6 +118937,7 @@ MONDO:0014084 oboInOwl:hasExactSynonym "ataxia-oculomotor apraxia type 3" MONDO:0020333 oboInOwl:hasExactSynonym "ASM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020333 oboInOwl:hasExactSynonym "aggressive systemic mastocytosis (morphologic abnormality)" MONDO:0020333 oboInOwl:hasExactSynonym "lymphadenopathic mastocytosis with eosinophilia" +MONDO:0010444 oboInOwl:hasExactSynonym "anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive" CL:0002087 oboInOwl:hasExactSynonym "agranular leukocyte" HP:0000290 oboInOwl:hasExactSynonym "Abnormality of the forehead" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0000290 oboInOwl:hasExactSynonym "Abnormality of the frontal region of the face" @@ -118194,8 +118971,8 @@ MONDO:0020639 oboInOwl:hasExactSynonym "monosomy" NCBITaxon:7496 oboInOwl:hasExactSynonym "winged insects" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name NCBITaxon:7496 oboInOwl:hasExactSynonym "Pterygota" http://purl.obolibrary.org/obo/ncbitaxon#scientific_name MONDO:0014271 oboInOwl:hasExactSynonym "carbohydrate deficient glycoprotein syndrome type IX" -MONDO:0014271 oboInOwl:hasExactSynonym "CDG syndrome type IX" MONDO:0014271 oboInOwl:hasExactSynonym "CDG1X" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014271 oboInOwl:hasExactSynonym "CDG syndrome type IX" MONDO:0014271 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type IX" MONDO:0014271 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type 1x" MONDO:0014271 oboInOwl:hasExactSynonym "CDG-Ix" @@ -118249,6 +119026,9 @@ MONDO:0001260 oboInOwl:hasExactSynonym "duck Itch" MONDO:0001260 oboInOwl:hasExactSynonym "lake Itch" MONDO:0001260 oboInOwl:hasExactSynonym "Sea bather's eruption" MONDO:0001260 oboInOwl:hasExactSynonym "cutaneous schistosomiasis" +MONDO:0019227 oboInOwl:hasExactSynonym "inborn error of glycerol metabolic process" +MONDO:0019227 oboInOwl:hasExactSynonym "rare inborn error of glycerol metabolic process" +MONDO:0019227 oboInOwl:hasExactSynonym "inborn glycerol metabolic process disorder" MONDO:0001494 oboInOwl:hasExactSynonym "cross dresser" MONDO:0001494 oboInOwl:hasExactSynonym "Transvestic fetishism" MONDO:0001494 oboInOwl:hasExactSynonym "dual-role transvestism" @@ -118262,9 +119042,6 @@ GO:0042398 oboInOwl:hasExactSynonym "cellular modified amino acid anabolism" GO:0042398 oboInOwl:hasExactSynonym "cellular amino acid derivative biosynthetic process" GO:0042398 oboInOwl:hasExactSynonym "cellular amino acid derivative synthesis" GO:0042398 oboInOwl:hasExactSynonym "cellular amino acid derivative formation" -MONDO:0019227 oboInOwl:hasExactSynonym "inborn error of glycerol metabolic process" -MONDO:0019227 oboInOwl:hasExactSynonym "rare inborn error of glycerol metabolic process" -MONDO:0019227 oboInOwl:hasExactSynonym "inborn glycerol metabolic process disorder" MONDO:0002440 oboInOwl:hasExactSynonym "secondary polycythemia with excess erythropoietin" MONDO:0002440 oboInOwl:hasExactSynonym "polycythemia due to excess erythopoetin production" MONDO:0002440 oboInOwl:hasExactSynonym "nephrogenous polycythemia" @@ -118372,6 +119149,7 @@ MONDO:0018459 oboInOwl:hasExactSynonym "isolated inborn glycerol kinase deficien MONDO:0009644 oboInOwl:hasExactSynonym "molybdenum cofactor deficiency, complementation group type B" MONDO:0009644 oboInOwl:hasExactSynonym "molybdenum cofactor deficiency complementation group B" MONDO:0009644 oboInOwl:hasExactSynonym "MOCODB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009644 oboInOwl:hasExactSynonym "molybdenum cofactor deficiency B" MONDO:0009644 oboInOwl:hasExactSynonym "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B" MONDO:0009644 oboInOwl:hasExactSynonym "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B" MONDO:0009644 oboInOwl:hasExactSynonym "MOCOD type B" @@ -118405,20 +119183,20 @@ MONDO:0008885 oboInOwl:hasExactSynonym "hypospadias-hypertelorism-coloboma and d MONDO:0008885 oboInOwl:hasExactSynonym "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss" MONDO:0008885 oboInOwl:hasExactSynonym "hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss" MONDO:0008885 oboInOwl:hasExactSynonym "ELSAHY-Waters syndrome" -MONDO:0009831 oboInOwl:hasExactSynonym "malignant pancreatic neoplasm" -MONDO:0009831 oboInOwl:hasExactSynonym "Ca tail of pancreas" -MONDO:0009831 oboInOwl:hasExactSynonym "Ca head of pancreas" -MONDO:0009831 oboInOwl:hasExactSynonym "cancer of pancreas" -MONDO:0009831 oboInOwl:hasExactSynonym "pancreas neoplasm" -MONDO:0009831 oboInOwl:hasExactSynonym "malignant neoplasm of head of pancreas" -MONDO:0009831 oboInOwl:hasExactSynonym "malignant neoplasm of tail of pancreas" -MONDO:0009831 oboInOwl:hasExactSynonym "pancreas cancer" -MONDO:0009831 oboInOwl:hasExactSynonym "malignant pancreas neoplasm" MONDO:0009831 oboInOwl:hasExactSynonym "Ca body of pancreas" +MONDO:0009831 oboInOwl:hasExactSynonym "pancreas cancer" +MONDO:0009831 oboInOwl:hasExactSynonym "malignant neoplasm of the pancreas" +MONDO:0009831 oboInOwl:hasExactSynonym "malignant neoplasm of head of pancreas" +MONDO:0009831 oboInOwl:hasExactSynonym "Ca tail of pancreas" MONDO:0009831 oboInOwl:hasExactSynonym "malignant neoplasm of body of pancreas" MONDO:0009831 oboInOwl:hasExactSynonym "pancreatic cancer" -MONDO:0009831 oboInOwl:hasExactSynonym "malignant neoplasm of the pancreas" +MONDO:0009831 oboInOwl:hasExactSynonym "malignant neoplasm of tail of pancreas" +MONDO:0009831 oboInOwl:hasExactSynonym "malignant pancreatic neoplasm" MONDO:0009831 oboInOwl:hasExactSynonym "malignant neoplasm of pancreas" +MONDO:0009831 oboInOwl:hasExactSynonym "malignant pancreas neoplasm" +MONDO:0009831 oboInOwl:hasExactSynonym "cancer of pancreas" +MONDO:0009831 oboInOwl:hasExactSynonym "pancreas neoplasm" +MONDO:0009831 oboInOwl:hasExactSynonym "Ca head of pancreas" HP:0000587 oboInOwl:hasExactSynonym "optic nerve abnormalities" HP:0000587 oboInOwl:hasExactSynonym "Optic nerve issue" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0017188 oboInOwl:hasExactSynonym "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form" @@ -118472,6 +119250,10 @@ MONDO:0007391 oboInOwl:hasExactSynonym "coxa vara" MONDO:0007391 oboInOwl:hasExactSynonym "coxa vara (disease)" MONDO:0018520 oboInOwl:hasExactSynonym "rare pancreatic epithelial tumor" MONDO:0012294 oboInOwl:hasExactSynonym "drug metabolism, poor, Cyp2C19-related" +MONDO:0012294 oboInOwl:hasExactSynonym "omeprazole poor metabolizer" +MONDO:0012294 oboInOwl:hasExactSynonym "clopidogrel, impaired responsiveness to" +MONDO:0012294 oboInOwl:hasExactSynonym "mephenytoin poor metabolizer" +MONDO:0012294 oboInOwl:hasExactSynonym "proguanil poor metabolizer" MONDO:0001355 oboInOwl:hasExactSynonym "siderosis of globe" MONDO:0001355 oboInOwl:hasExactSynonym "hemosiderosis of camera-type eye" MONDO:0001355 oboInOwl:hasExactSynonym "camera-type eye hemosiderosis" @@ -118495,6 +119277,7 @@ MONDO:0001769 oboInOwl:hasExactSynonym "acquired stenosis of nasolacrimal duct" MONDO:0001769 oboInOwl:hasExactSynonym "stenosis of nasolacrimal duct, acquired" MONDO:0008338 oboInOwl:hasExactSynonym "multiple pterygium syndrome, autosomal dominant" MONDO:0008338 oboInOwl:hasExactSynonym "distal arthrogryposis type 8" +MONDO:0008338 oboInOwl:hasExactSynonym "contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A" MONDO:0014934 oboInOwl:hasExactSynonym "autosomal dominant cerebellar ataxia caused by mutation in UBA5" MONDO:0014934 oboInOwl:hasExactSynonym "spinocerebellar ataxia, autosomal recessive 24" MONDO:0014934 oboInOwl:hasExactSynonym "spinocerebellar ataxia, autosomal recessive 24; SCAR24" @@ -118561,6 +119344,7 @@ MONDO:0024461 oboInOwl:hasExactSynonym "diffuse angiomatosis" MONDO:0024461 oboInOwl:hasExactSynonym "diffuse hemangioma" MONDO:0005359 oboInOwl:hasExactSynonym "drug induced hepatotoxicity" MONDO:0005359 oboInOwl:hasExactSynonym "drug-induced disorder of liver" +MONDO:0009505 oboInOwl:hasExactSynonym "d-lactic aciduria with susceptibility to gout" MONDO:0009505 oboInOwl:hasExactSynonym "lactic aciduria due to d-lactic acid" MONDO:0008735 oboInOwl:hasExactSynonym "adrenocortical unresponsiveness to ACTH with postreceptor defect" MONDO:0024528 oboInOwl:hasExactSynonym "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1" @@ -118595,6 +119379,7 @@ HP:0000752 oboInOwl:hasExactSynonym "Hyperactive behaviour" http://purl.obolibra HP:0000752 oboInOwl:hasExactSynonym "More active than typical" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0008234 oboInOwl:hasExactSynonym "multiple endocrine adenomatosis, type II" MONDO:0008234 oboInOwl:hasExactSynonym "multiple endocrine adenomatosis type II" +MONDO:0008234 oboInOwl:hasExactSynonym "multiple endocrine neoplasia IIA" MONDO:0008234 oboInOwl:hasExactSynonym "MEN2A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008234 oboInOwl:hasExactSynonym "Sipple syndrome" MONDO:0008234 oboInOwl:hasExactSynonym "ptc syndrome" @@ -118623,6 +119408,7 @@ MONDO:0007037 oboInOwl:hasExactSynonym "chondrodystrophia" MONDO:0007037 oboInOwl:hasExactSynonym "osteosclerosis congenita" MONDO:0007037 oboInOwl:hasExactSynonym "achondroplasia" MONDO:0021132 oboInOwl:hasExactSynonym "tertiary hyperparathyroidism" +MONDO:0010414 oboInOwl:hasExactSynonym "reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, X-linked dominant" MONDO:0010414 oboInOwl:hasExactSynonym "myopathy, reducing body, X-linked, early-onset, severe" MONDO:0005725 oboInOwl:hasExactSynonym "Cyclospora cayetanensis infectious disease" MONDO:0005725 oboInOwl:hasExactSynonym "Cyclospora disease or disorder" @@ -118654,6 +119440,7 @@ MONDO:0009675 oboInOwl:hasExactSynonym "limb-girdle muscular dystrophy type 2A" MONDO:0009675 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, type 2A" MONDO:0009675 oboInOwl:hasExactSynonym "primary calpainopathy" MONDO:0009675 oboInOwl:hasExactSynonym "calpainopathy" +MONDO:0009675 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal recessive 1" MONDO:0009675 oboInOwl:hasExactSynonym "pelvofemoral muscular dystrophy" MONDO:0009328 oboInOwl:hasExactSynonym "hemangiomatosis, cutaneous, with associated features" MONDO:0002536 oboInOwl:hasExactSynonym "cutaneous papilloma" @@ -118701,6 +119488,7 @@ MONDO:0006307 oboInOwl:hasExactSynonym "mixed somatotroph-lactotroph pituitary g MONDO:0006307 oboInOwl:hasExactSynonym "mixed GH-PRL cell adenoma" MONDO:0006307 oboInOwl:hasExactSynonym "Mixed somatotroph and lactotroph adenoma" MONDO:0016224 oboInOwl:hasExactSynonym "proximal spinal muscular atrophy, autosomal dominant" +MONDO:0100219 oboInOwl:hasExactSynonym "growth hormone insensitivity with immune dysregulation 2, autosomal dominant" MONDO:0100219 oboInOwl:hasExactSynonym "GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT" MONDO:0100219 oboInOwl:hasExactSynonym "GHISID2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024392 oboInOwl:hasExactSynonym "anaerobic balanitis" @@ -118729,6 +119517,7 @@ MONDO:0014936 oboInOwl:hasExactSynonym "ZTTK syndrome" MONDO:0014936 oboInOwl:hasExactSynonym "TOKIMS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007748 oboInOwl:hasExactSynonym "hypercalciuria, absorptive, 2" MONDO:0007748 oboInOwl:hasExactSynonym "hypercalciuria, absorptive, type 2" +MONDO:0007748 oboInOwl:hasExactSynonym "hypercalciuria, absorptive, susceptibility to" MONDO:0010800 oboInOwl:hasExactSynonym "Wolfram syndrome, mitochondrial form" SO:1000008 oboInOwl:hasExactSynonym "point mutation" MONDO:0012587 oboInOwl:hasExactSynonym "hypertension, essential, susceptibility to, type 7" @@ -118783,7 +119572,6 @@ MONDO:0021388 oboInOwl:hasExactSynonym "tumor of chest wall" MONDO:0021388 oboInOwl:hasExactSynonym "neoplasm of chest wall" MONDO:0021388 oboInOwl:hasExactSynonym "tumor of the chest wall" MONDO:0021388 oboInOwl:hasExactSynonym "chest wall neoplasm (disease)" -MONDO:0007593 oboInOwl:hasExactSynonym "facial spasm" MONDO:0002460 oboInOwl:hasExactSynonym "malignant neoplasm of lacrimal apparatus" MONDO:0002460 oboInOwl:hasExactSynonym "cancer of lacrimal apparatus" MONDO:0002460 oboInOwl:hasExactSynonym "malignant lacrimal apparatus neoplasm" @@ -118795,6 +119583,7 @@ MONDO:0002460 oboInOwl:hasExactSynonym "lacrimal system neoplasm" MONDO:0002460 oboInOwl:hasExactSynonym "neoplasm of lacrimal system" MONDO:0002460 oboInOwl:hasExactSynonym "tumor of the lacrimal system" MONDO:0002460 oboInOwl:hasExactSynonym "lacrimal apparatus cancer" +MONDO:0007593 oboInOwl:hasExactSynonym "facial spasm" MONDO:0004419 oboInOwl:hasExactSynonym "infiltrating bladder urothelial carcinoma, lymphoma-like variant" MONDO:0005977 oboInOwl:hasExactSynonym "posterior spinal sclerosis" MONDO:0005977 oboInOwl:hasExactSynonym "tabes dorsalis - neurosyphilis" @@ -118823,8 +119612,8 @@ MONDO:0100083 oboInOwl:hasExactSynonym "familial platelet syndrome with predispo MONDO:0100083 oboInOwl:hasExactSynonym "FPS/AML syndrome" MONDO:0100083 oboInOwl:hasExactSynonym "FPD/AML syndrome" MONDO:0100083 oboInOwl:hasExactSynonym "familial platelet disorder with associated myeloid malignancy" -GO:1900373 oboInOwl:hasExactSynonym "up-regulation of purine nucleotide biosynthetic process" GO:1900373 oboInOwl:hasExactSynonym "up regulation of purine nucleotide anabolism" +GO:1900373 oboInOwl:hasExactSynonym "up-regulation of purine nucleotide biosynthetic process" GO:1900373 oboInOwl:hasExactSynonym "up-regulation of purine nucleotide anabolism" GO:1900373 oboInOwl:hasExactSynonym "positive regulation of purine nucleotide anabolism" GO:1900373 oboInOwl:hasExactSynonym "upregulation of purine nucleotide anabolism" @@ -118847,6 +119636,7 @@ GO:1900373 oboInOwl:hasExactSynonym "up-regulation of purine nucleotide synthesi GO:1900373 oboInOwl:hasExactSynonym "activation of purine nucleotide synthesis" GO:1900373 oboInOwl:hasExactSynonym "positive regulation of purine nucleotide synthesis" MONDO:0010416 oboInOwl:hasExactSynonym "deafness, cataract, retinitis pigmentosa, and sperm abnormalities" +MONDO:0010416 oboInOwl:hasExactSynonym "deafness, cataract, retinitis pigmentosa, and sperm abnormalities, X-linked recessive" MONDO:0015516 oboInOwl:hasExactSynonym "De Smet-Fabry-Fryns syndrome" MONDO:0005023 oboInOwl:hasExactSynonym "non-infiltrating ductal carcinoma of the breast" MONDO:0005023 oboInOwl:hasExactSynonym "ductal carcinoma in situ (DCIS)" @@ -118911,6 +119701,8 @@ MONDO:0006128 oboInOwl:hasExactSynonym "anaplastic large cell lymphoma of the CN MONDO:0019594 oboInOwl:hasExactSynonym "46,XY DSD due to a testosterone synthesis defect" GO:0003022 oboInOwl:hasExactSynonym "detection of pH by chemoreceptor signalling" MONDO:0054696 oboInOwl:hasExactSynonym "immunodeficiency 53" +MONDO:0020609 oboInOwl:hasExactSynonym "blood group, Colton" +MONDO:0020609 oboInOwl:hasExactSynonym "aquaporin-1 deficiency" MONDO:0018397 oboInOwl:hasExactSynonym "rare female infertility due to hypothalamic-pituitary-ovarian axis disorder" MONDO:0018397 oboInOwl:hasExactSynonym "rare female infertility due to gonadotropic axis disorder" MONDO:0011857 oboInOwl:hasExactSynonym "atrial fibrillation, familial, type 3" @@ -118942,6 +119734,7 @@ MONDO:0002701 oboInOwl:hasExactSynonym "ovarian mucinous cystadenocarcinoma" MONDO:0002701 oboInOwl:hasExactSynonym "mucinous cystadenocarcinoma of the ovary" MONDO:0002701 oboInOwl:hasExactSynonym "ovary mucinous cystadenocarcinoma" CHEBI:35134 oboInOwl:hasExactSynonym "metalloprotein" +MONDO:0033636 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 4" MONDO:0033636 oboInOwl:hasExactSynonym "MC4DN4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044992 oboInOwl:hasExactSynonym "mouth mucosa disease or disorder" MONDO:0044992 oboInOwl:hasExactSynonym "oral mucous membrane disease" @@ -118960,6 +119753,7 @@ MONDO:0009194 oboInOwl:hasExactSynonym "IRF8 deficiency, autosomal recessive" MONDO:0009194 oboInOwl:hasExactSynonym "CAEBV syndrome" MONDO:0009194 oboInOwl:hasExactSynonym "chronic Epstein-Barr virus infection syndrome" MONDO:0009194 oboInOwl:hasExactSynonym "immunodeficiency 32B" +MONDO:0009194 oboInOwl:hasExactSynonym "immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive" MONDO:0009194 oboInOwl:hasExactSynonym "IMD32B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009194 oboInOwl:hasExactSynonym "immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive" MONDO:0009194 oboInOwl:hasExactSynonym "monocyte and dendritic cell deficiency, autosomal recessive" @@ -118971,13 +119765,13 @@ MONDO:0002055 oboInOwl:hasExactSynonym "benign breast eccrine spiradenoma" MONDO:0019991 oboInOwl:hasExactSynonym "FGN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019991 oboInOwl:hasExactSynonym "Immunotactoid glomerulonephritis" MONDO:0019991 oboInOwl:hasExactSynonym "fibrillary glomerulonephritis" +MONDO:0000743 oboInOwl:hasExactSynonym "hairy leukoplakia of the mouth" MONDO:0000743 oboInOwl:hasExactSynonym "hairy leukoplakia of oral mucosa" MONDO:0000743 oboInOwl:hasExactSynonym "hairy leukoplakia of mouth" MONDO:0000743 oboInOwl:hasExactSynonym "oral hairy keratosis" MONDO:0000743 oboInOwl:hasExactSynonym "hairy leukoplakia of the oral mucosa" MONDO:0000743 oboInOwl:hasExactSynonym "oral cavity hairy leukoplakia" MONDO:0000743 oboInOwl:hasExactSynonym "mouth hairy leukoplakia" -MONDO:0000743 oboInOwl:hasExactSynonym "hairy leukoplakia of the mouth" MONDO:0012437 oboInOwl:hasExactSynonym "early-onset non-syndromic cataract caused by mutation in MAF" MONDO:0012437 oboInOwl:hasExactSynonym "cataract 21 multiple types with or without microcornea" MONDO:0012437 oboInOwl:hasExactSynonym "MAF early-onset non-syndromic cataract" @@ -119021,6 +119815,7 @@ MONDO:0000930 oboInOwl:hasExactSynonym "nodular melanoma" MONDO:0000930 oboInOwl:hasExactSynonym "nodular malignant melanoma of the skin" MONDO:0012624 oboInOwl:hasExactSynonym "acyl-CoA dehydrogenase 9 deficiency" MONDO:0012624 oboInOwl:hasExactSynonym "mitochondrial complex I deficiency due to ACAD9 deficiency" +MONDO:0012624 oboInOwl:hasExactSynonym "mitochondrial complex I deficiency, nuclear type 20" MONDO:0012624 oboInOwl:hasExactSynonym "ACAD9 deficiency" MONDO:0019490 oboInOwl:hasExactSynonym "familial Lev-Lenègre disease" MONDO:0019490 oboInOwl:hasExactSynonym "familial PCCD" @@ -119106,16 +119901,18 @@ MONDO:0014493 oboInOwl:hasExactSynonym "autoimmune lymphoproliferative syndrome MONDO:0014493 oboInOwl:hasExactSynonym "ALPS type 5" MONDO:0014493 oboInOwl:hasExactSynonym "ALPS type V" MONDO:0014493 oboInOwl:hasExactSynonym "autoimmune lymphoproliferative syndrome type 5" +MONDO:0014493 oboInOwl:hasExactSynonym "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation" MONDO:0014493 oboInOwl:hasExactSynonym "autoimmune lymphoproliferative syndrome type V" MONDO:0014493 oboInOwl:hasExactSynonym "chai" MONDO:0014493 oboInOwl:hasExactSynonym "CTLA4 haploinsufficiency" -GO:2000349 oboInOwl:hasExactSynonym "negative regulation of CD40 signalling pathway" GO:1905951 oboInOwl:hasExactSynonym "DNA recombination in mitochondria" +GO:2000349 oboInOwl:hasExactSynonym "negative regulation of CD40 signalling pathway" MONDO:0024431 oboInOwl:hasExactSynonym "disorder of bilirubin metabolism" MONDO:0004285 oboInOwl:hasExactSynonym "intraductal papillary-mucinous carcinoma of pancreas" MONDO:0004285 oboInOwl:hasExactSynonym "pancreatic intraductal papillary mucinous carcinoma" MONDO:0004285 oboInOwl:hasExactSynonym "intraductal papillary mucinous carcinoma of pancreas" MONDO:0004285 oboInOwl:hasExactSynonym "pancreatic intraductal papillary-mucinous carcinoma" +MONDO:0013169 oboInOwl:hasExactSynonym "chromosome 5p13 duplication syndrome, isolated cases" MONDO:0013169 oboInOwl:hasExactSynonym "trisomy 5p13" MONDO:0013169 oboInOwl:hasExactSynonym "5p13 microduplication syndrome" MONDO:0013169 oboInOwl:hasExactSynonym "dup(5)(p13)" @@ -119203,6 +120000,7 @@ MONDO:0014797 oboInOwl:hasExactSynonym "LMPH3" http://purl.obolibrary.org/obo/mo MONDO:0014797 oboInOwl:hasExactSynonym "lymphedema, hereditary, type III" MONDO:0012216 oboInOwl:hasExactSynonym "foveal hypoplasia type 2" MONDO:0012216 oboInOwl:hasExactSynonym "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome" +MONDO:0012216 oboInOwl:hasExactSynonym "foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis" MONDO:0012216 oboInOwl:hasExactSynonym "FHONDA syndrome" MONDO:0015675 oboInOwl:hasExactSynonym "distomiasis" MONDO:0015675 oboInOwl:hasExactSynonym "fluke infection" @@ -119232,6 +120030,7 @@ MONDO:0010258 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndr MONDO:0010258 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndromic 25" MONDO:0010258 oboInOwl:hasExactSynonym "syndromic X-linked mental retardation 20" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010258 oboInOwl:hasExactSynonym "syndromic X-linked mental retardation 25" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010258 oboInOwl:hasExactSynonym "MEHMO syndrome, X-linked recessive" MONDO:0010258 oboInOwl:hasExactSynonym "MRXS25" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010258 oboInOwl:hasExactSynonym "MRXSBRK" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010258 oboInOwl:hasExactSynonym "MEHMO" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -119262,6 +120061,7 @@ MONDO:0008393 oboInOwl:hasExactSynonym "Rubinstein-Taybi syndrome caused by muta MONDO:0008393 oboInOwl:hasExactSynonym "Rubinstein-Taybi syndrome 1" MONDO:0008393 oboInOwl:hasExactSynonym "CREBBP Rubinstein-Taybi syndrome" MONDO:0008393 oboInOwl:hasExactSynonym "Rubinstein-Taybi syndrome due to CREBBP mutations" +MONDO:0010668 oboInOwl:hasExactSynonym "mental retardation-skeletal dysplasia" MONDO:0010668 oboInOwl:hasExactSynonym "Christian syndrome" MONDO:0017384 oboInOwl:hasExactSynonym "pustular drug eruption" MONDO:0017384 oboInOwl:hasExactSynonym "toxic pustuloderma" @@ -119280,10 +120080,12 @@ MONDO:0005275 oboInOwl:hasExactSynonym "disorder of lung" MONDO:0005275 oboInOwl:hasExactSynonym "lung disease or disorder" MONDO:0005275 oboInOwl:hasExactSynonym "pulmonary disorders" MONDO:0005275 oboInOwl:hasExactSynonym "lung disorder" +MONDO:0014906 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, axonal, type 2A2B" MONDO:0014906 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2A2B" MONDO:0014085 oboInOwl:hasExactSynonym "hydrocephalus, nonsyndromic, autosomal recessive type 2" MONDO:0014085 oboInOwl:hasExactSynonym "hydrocephalus, nonsyndromic, autosomal recessive 2" MONDO:0014085 oboInOwl:hasExactSynonym "congenital hydrocephalus caused by mutation in MPDZ" +MONDO:0014085 oboInOwl:hasExactSynonym "hydrocephalus, congenital, 2, with or without brain or eye anomalies" MONDO:0014085 oboInOwl:hasExactSynonym "MPDZ congenital hydrocephalus" MONDO:0020334 oboInOwl:hasExactSynonym "aleukemic mast cell leukemia" MONDO:0020334 oboInOwl:hasExactSynonym "mast-cell leukemia" @@ -119334,6 +120136,7 @@ MONDO:0016216 oboInOwl:hasExactSynonym "adult HCC" MONDO:0013429 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation in PDE6B" MONDO:0013429 oboInOwl:hasExactSynonym "RP40" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013429 oboInOwl:hasExactSynonym "PDE6B retinitis pigmentosa" +MONDO:0013429 oboInOwl:hasExactSynonym "retinitis pigmentosa-40" MONDO:0013429 oboInOwl:hasExactSynonym "retinitis pigmentosa type 40" MONDO:0013429 oboInOwl:hasExactSynonym "retinitis pigmentosa 40" MONDO:0008036 oboInOwl:hasExactSynonym "myasthenia, limb-girdle, autoimmune" @@ -119401,6 +120204,7 @@ MONDO:0020512 oboInOwl:hasExactSynonym "precursor T-cell acute lymphoblastic leu MONDO:0020512 oboInOwl:hasExactSynonym "precursor T-cell acute lymphocytic leukemia/lymphoma" MONDO:0020512 oboInOwl:hasExactSynonym "precursor T-cell acute lymphocytic leukemia" MONDO:0008196 oboInOwl:hasExactSynonym "parastremmatic dwarfism" +MONDO:0009383 oboInOwl:hasExactSynonym "hyperbilirubinemia, familial transient neonatal" MONDO:0009383 oboInOwl:hasExactSynonym "Lucey-Driscoll syndrome" MONDO:0021310 oboInOwl:hasExactSynonym "cancer of the neck" MONDO:0021310 oboInOwl:hasExactSynonym "malignant neoplasm of neck" @@ -119414,6 +120218,8 @@ GO:0002922 oboInOwl:hasExactSynonym "up-regulation of humoral immune response" GO:0002922 oboInOwl:hasExactSynonym "upregulation of humoral immune response" GO:0002922 oboInOwl:hasExactSynonym "up regulation of humoral immune response" MONDO:0020113 oboInOwl:hasExactSynonym "primary autoimmune red cell aplasia" +MONDO:0010857 oboInOwl:hasExactSynonym "dementia, frontotemporal" +MONDO:0010857 oboInOwl:hasExactSynonym "dementia, frontotemporal, with or without parkinsonism" MONDO:0010857 oboInOwl:hasExactSynonym "semantic variant PPA" MONDO:0010857 oboInOwl:hasExactSynonym "semantic primary progressive aphasia" GO:0051956 oboInOwl:hasExactSynonym "down-regulation of amino acid transport" @@ -119455,6 +120261,7 @@ MONDO:0020096 oboInOwl:hasExactSynonym "isolated diffuse palmoplantar keratoderm FOODON:03309823 oboInOwl:hasExactSynonym "shrimp sauce"@en CL:2000055 oboInOwl:hasExactSynonym "hepatic dendritic cell" MONDO:0012492 oboInOwl:hasExactSynonym "restless legs syndrome, susceptibility to, 3" +MONDO:0012492 oboInOwl:hasExactSynonym "restless legs syndrome 3" MONDO:0012492 oboInOwl:hasExactSynonym "RLS3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP:0003366 oboInOwl:hasExactSynonym "Abnormality of the femoral neck or head region" HP:0003366 oboInOwl:hasExactSynonym "Abnormal neck or head of thigh bone" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -119488,6 +120295,7 @@ MONDO:0014671 oboInOwl:hasExactSynonym "neuropathy, hereditary motor and sensory MONDO:0014671 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 6B" MONDO:0012093 oboInOwl:hasExactSynonym "prostate cancer, hereditary, type 3" MONDO:0012093 oboInOwl:hasExactSynonym "prostate cancer, hereditary, 3" +MONDO:0012093 oboInOwl:hasExactSynonym "prostate cancer, susceptibility to, 3" GO:0009135 oboInOwl:hasExactSynonym "purine nucleoside diphosphate metabolism" MONDO:0010610 oboInOwl:hasExactSynonym "holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome" MONDO:0010610 oboInOwl:hasExactSynonym "Morse-Rawnsley-Sargent syndrome" @@ -119505,6 +120313,7 @@ MONDO:0008886 oboInOwl:hasExactSynonym "Sabinas brittle hair syndrome" MONDO:0008886 oboInOwl:hasExactSynonym "brittle hair syndrome, Sabinas type" MONDO:0007905 oboInOwl:hasExactSynonym "lip, hamartomatous" MONDO:0011027 oboInOwl:hasExactSynonym "diabetes mellitus, noninsulin-dependent, 1" +MONDO:0011027 oboInOwl:hasExactSynonym "diabetes mellitus, noninsulin-dependent 1" MONDO:0011027 oboInOwl:hasExactSynonym "diabetes mellitus, noninsulin-dependent, type 1" MONDO:0017189 oboInOwl:hasExactSynonym "NI-PHH" MONDO:0012101 oboInOwl:hasExactSynonym "JOAG2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -119583,6 +120392,7 @@ NCBITaxon:6943 oboInOwl:hasExactSynonym "Lone Star tick" http://purl.obolibrary. MONDO:0018649 oboInOwl:hasExactSynonym "visual cortex disorder" MONDO:0018649 oboInOwl:hasExactSynonym "cortical visual impairment" MONDO:0011771 oboInOwl:hasExactSynonym "dSMA3" +MONDO:0011771 oboInOwl:hasExactSynonym "spinal muscular atrophy, chronic distal, autosomal recessive" MONDO:0011771 oboInOwl:hasExactSynonym "distal hereditary motor neuropathy type 3 and type 4" MONDO:0011771 oboInOwl:hasExactSynonym "dHMN3 and dHMN4" MONDO:0011771 oboInOwl:hasExactSynonym "autosomal recessive distal spinal muscular atrophy type 3" @@ -119636,8 +120446,8 @@ MONDO:0020317 oboInOwl:hasExactSynonym "AML with t(9;11)(p22;q23); MLLT3-MLL" MONDO:0020317 oboInOwl:hasExactSynonym "acute myeloid leukemia with MLL abnormalities" MONDO:0017509 oboInOwl:hasExactSynonym "congenital absence of toes, unilateral" MONDO:0004277 oboInOwl:hasExactSynonym "chronic gonococcal infectious disease of upper genitourinary tract" -MONDO:0004277 oboInOwl:hasExactSynonym "Neisseria gonorrhoeae infection" MONDO:0004277 oboInOwl:hasExactSynonym "chronic gonococcal infectious disease of lower genitourinary tract" +MONDO:0004277 oboInOwl:hasExactSynonym "Neisseria gonorrhoeae infection" MONDO:0004277 oboInOwl:hasExactSynonym "GC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024462 oboInOwl:hasExactSynonym "hereditary cutaneous melanoma (disease)" MONDO:0016772 oboInOwl:hasExactSynonym "annular LP" @@ -119703,14 +120513,14 @@ MONDO:0001521 oboInOwl:hasExactSynonym "explosive personality disorder" MONDO:0007424 oboInOwl:hasExactSynonym "Konigsmark syndrome" MONDO:0007424 oboInOwl:hasExactSynonym "hereditary low frequency hearing loss 1" MONDO:0007424 oboInOwl:hasExactSynonym "LFHL1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -GO:0042753 oboInOwl:hasExactSynonym "up regulation of circadian rhythm" -GO:0042753 oboInOwl:hasExactSynonym "upregulation of circadian rhythm" -GO:0042753 oboInOwl:hasExactSynonym "up-regulation of circadian rhythm" MONDO:0014077 oboInOwl:hasExactSynonym "lissencephaly type 5" MONDO:0014077 oboInOwl:hasExactSynonym "cobblestone lissencephaly without muscular or eye involvement" MONDO:0014077 oboInOwl:hasExactSynonym "lissencephaly type 2 without muscular or eye involvement" MONDO:0014077 oboInOwl:hasExactSynonym "lissencephaly type 2 without muscular or ocular involvement" MONDO:0014077 oboInOwl:hasExactSynonym "cobblestone lissencephaly without muscular or ocular involvement" +GO:0042753 oboInOwl:hasExactSynonym "up regulation of circadian rhythm" +GO:0042753 oboInOwl:hasExactSynonym "upregulation of circadian rhythm" +GO:0042753 oboInOwl:hasExactSynonym "up-regulation of circadian rhythm" GO:1902668 oboInOwl:hasExactSynonym "downregulation of axon pathfinding" GO:1902668 oboInOwl:hasExactSynonym "negative regulation of axon pathfinding" GO:1902668 oboInOwl:hasExactSynonym "down regulation of axon pathfinding" @@ -119734,6 +120544,7 @@ MONDO:0009676 oboInOwl:hasExactSynonym "limb-girdle muscular dystrophy type 3" MONDO:0009676 oboInOwl:hasExactSynonym "LGMD3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009676 oboInOwl:hasExactSynonym "limb-girdle muscular dystrophy due to dysferlin deficiency" MONDO:0009676 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF" +MONDO:0009676 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal recessive 2" MONDO:0004967 oboInOwl:hasExactSynonym "lymphoblastic leukemia, acute" MONDO:0004967 oboInOwl:hasExactSynonym "acute lymphoid leukemia" MONDO:0004967 oboInOwl:hasExactSynonym "ALL - acute lymphocytic leukemia" @@ -119767,6 +120578,7 @@ MONDO:0012295 oboInOwl:hasExactSynonym "complement deficiency caused by mutation MONDO:0012295 oboInOwl:hasExactSynonym "C5 deficiency" CHEBI:33563 oboInOwl:hasExactSynonym "glycolipids" CHEBI:33563 oboInOwl:hasExactSynonym "Glycolipid" +MONDO:0033635 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 3" MONDO:0033635 oboInOwl:hasExactSynonym "MC4DN3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION ECTO:0000481 oboInOwl:hasExactSynonym "exposure to transition element molecular entity" MONDO:0016225 oboInOwl:hasExactSynonym "specific learning difficulty" @@ -119802,6 +120614,7 @@ MONDO:0019601 oboInOwl:hasExactSynonym "autosomal recessive axonal Charcot-Marie MONDO:0007771 oboInOwl:hasExactSynonym "hyperpigmentation with or without hypopigmentation, familial progressive" MONDO:0007771 oboInOwl:hasExactSynonym "macules, hereditary congenital hypopigmented and hyperpigmented" MONDO:0007771 oboInOwl:hasExactSynonym "melanosis, universal" +MONDO:0007771 oboInOwl:hasExactSynonym "hyperpigmentation with or without hypopigmentation" MONDO:0008339 oboInOwl:hasExactSynonym "antecubital pterygium syndrome" MONDO:0009897 oboInOwl:hasExactSynonym "APBD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018404 oboInOwl:hasExactSynonym "rare genetic male infertility" @@ -119834,6 +120647,7 @@ MONDO:0010417 oboInOwl:hasExactSynonym "intellectual disability and microcephaly MONDO:0010417 oboInOwl:hasExactSynonym "syndromic X-linked intellectual disability Najm type" MONDO:0010417 oboInOwl:hasExactSynonym "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome" MONDO:0010417 oboInOwl:hasExactSynonym "MICPCH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010417 oboInOwl:hasExactSynonym "intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, X-linked dominant" MONDO:0010417 oboInOwl:hasExactSynonym "mental retardation and microcephaly with pontine and cerebellar hypoplasia" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0015517 oboInOwl:hasExactSynonym "common variable agammaglobulinemia" MONDO:0015517 oboInOwl:hasExactSynonym "idiopathic immunoglobulin deficiency" @@ -119862,14 +120676,14 @@ MONDO:0013755 oboInOwl:hasExactSynonym "ARCL3B" http://purl.obolibrary.org/obo/m MONDO:0013755 oboInOwl:hasExactSynonym "De Barsy syndrome B" MONDO:0013755 oboInOwl:hasExactSynonym "PYCR1 deficiency" MONDO:0013755 oboInOwl:hasExactSynonym "pyrroline-5-carboxylate reductase 1 deficiency" -MONDO:0015175 oboInOwl:hasExactSynonym "AIP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018398 oboInOwl:hasExactSynonym "rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism" MONDO:0021514 oboInOwl:hasExactSynonym "benign tumor of pericardium" MONDO:0021514 oboInOwl:hasExactSynonym "benign pericardial neoplasm" MONDO:0021514 oboInOwl:hasExactSynonym "benign pericardial tumor" MONDO:0021514 oboInOwl:hasExactSynonym "pericardium benign neoplasm" MONDO:0021514 oboInOwl:hasExactSynonym "benign tumor of the pericardium" MONDO:0021514 oboInOwl:hasExactSynonym "benign neoplasm of the pericardium" +MONDO:0015175 oboInOwl:hasExactSynonym "AIP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0018398 oboInOwl:hasExactSynonym "rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism" GO:0045932 oboInOwl:hasExactSynonym "down regulation of muscle contraction" GO:0045932 oboInOwl:hasExactSynonym "downregulation of muscle contraction" GO:0045932 oboInOwl:hasExactSynonym "down-regulation of muscle contraction" @@ -119887,8 +120701,9 @@ MONDO:0002702 oboInOwl:hasExactSynonym "cystadenocarcinoma of the ovary" MONDO:0002702 oboInOwl:hasExactSynonym "cystadenocarcinoma of ovary" MONDO:0002702 oboInOwl:hasExactSynonym "ovary cystadenocarcinoma" MONDO:0005883 oboInOwl:hasExactSynonym "herpes zoster ophthalmicus" -MONDO:0020766 oboInOwl:hasExactSynonym "NEUROPATHY, CONGENITAL HYPOMYELINATING, 3" MONDO:0020766 oboInOwl:hasExactSynonym "CHN3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020766 oboInOwl:hasExactSynonym "NEUROPATHY, CONGENITAL HYPOMYELINATING, 3" +MONDO:0020766 oboInOwl:hasExactSynonym "hypomyelinating neuropathy, congenital, 3" MONDO:0019259 oboInOwl:hasExactSynonym "classic PKU" MONDO:0037743 oboInOwl:hasExactSynonym "malignant soft tissue neoplasm of mediastinum" MONDO:0037743 oboInOwl:hasExactSynonym "malignant soft tissue tumor of mediastinum" @@ -119962,18 +120777,19 @@ MONDO:0004030 oboInOwl:hasExactSynonym "ureter transitional cell carcinoma" MONDO:0004030 oboInOwl:hasExactSynonym "ureter urothelial cancer" MONDO:0004030 oboInOwl:hasExactSynonym "ureter urothelial carcinoma" MONDO:0004030 oboInOwl:hasExactSynonym "transitional cell carcinoma of ureter" +MONDO:0033637 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 7" MONDO:0033637 oboInOwl:hasExactSynonym "MC4DN7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004316 oboInOwl:hasExactSynonym "acantholytic squamous cell skin carcinoma" MONDO:0004316 oboInOwl:hasExactSynonym "acantholytic squamous cell carcinoma of the skin" MONDO:0011407 oboInOwl:hasExactSynonym "facial paresis, hereditary congenital, 2" +MONDO:0020474 oboInOwl:hasExactSynonym "generalized enchondromatosis with platyspondyly" +MONDO:0009195 oboInOwl:hasExactSynonym "erythema of acral regions" +MONDO:0013607 oboInOwl:hasExactSynonym "MonoMAC" MONDO:0013607 oboInOwl:hasExactSynonym "monocytopenia and mycobacterial infection syndrome" MONDO:0013607 oboInOwl:hasExactSynonym "combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections" MONDO:0013607 oboInOwl:hasExactSynonym "immunodeficiency type 21" MONDO:0013607 oboInOwl:hasExactSynonym "monocyte-B-natural killer-dendritic cell deficiency syndrome" MONDO:0013607 oboInOwl:hasExactSynonym "Dendritic cell, monocyte, B and NK lymphoid deficiency" -MONDO:0013607 oboInOwl:hasExactSynonym "MonoMAC" -MONDO:0009195 oboInOwl:hasExactSynonym "erythema of acral regions" -MONDO:0020474 oboInOwl:hasExactSynonym "generalized enchondromatosis with platyspondyly" HP:0012719 oboInOwl:hasExactSynonym "GI dysfunction" HP:0012719 oboInOwl:hasExactSynonym "Functional abnormality of the GI tract" http://purl.obolibrary.org/obo/hp.obo#abbreviation MONDO:0005549 oboInOwl:hasExactSynonym "renal cell carcinoma, stage unspecified" @@ -120064,7 +120880,10 @@ MONDO:0009561 oboInOwl:hasExactSynonym "deficiency of alpha-mannosidase" MONDO:0009561 oboInOwl:hasExactSynonym "alpha-mannosidosis" MONDO:0009561 oboInOwl:hasExactSynonym "alpha-mannosidase deficiency" MONDO:0009561 oboInOwl:hasExactSynonym "lysosomal alpha-D-mannosidase deficiency" +MONDO:0009561 oboInOwl:hasExactSynonym "mannosidosis, alpha-, types I and II" MONDO:0009561 oboInOwl:hasExactSynonym "Alpha-D-mannosidosis" +MONDO:0008791 oboInOwl:hasExactSynonym "isolated anencephaly/exencephaly" +MONDO:0008791 oboInOwl:hasExactSynonym "anencephaly 1" MONDO:0014116 oboInOwl:hasExactSynonym "complex cortical dysplasia with other brain malformations caused by mutation in KIF5C" MONDO:0014116 oboInOwl:hasExactSynonym "complex cortical dysplasia with other brain malformations type 2" MONDO:0014116 oboInOwl:hasExactSynonym "cortical dysplasia, Complex, with Other brain malformations type 2" @@ -120084,6 +120903,7 @@ MONDO:0001691 oboInOwl:hasExactSynonym "cancer of laryngeal cartilage" MONDO:0001691 oboInOwl:hasExactSynonym "laryngeal cartilage cancer" MONDO:0001691 oboInOwl:hasExactSynonym "malignant tumor of laryngeal cartilage" MONDO:0007594 oboInOwl:hasExactSynonym "Proaccelerin Excess" +MONDO:0010667 oboInOwl:hasExactSynonym "Prieto syndrome, X-linked recessive" MONDO:0010667 oboInOwl:hasExactSynonym "Prieto-Badia-Mulas syndrome" MONDO:0010667 oboInOwl:hasExactSynonym "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome" MONDO:0005978 oboInOwl:hasExactSynonym "infection by Theileria" @@ -120126,22 +120946,24 @@ MONDO:0004286 oboInOwl:hasExactSynonym "pancreatic intraductal papillary-mucinou MONDO:0004286 oboInOwl:hasExactSynonym "IPMN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004286 oboInOwl:hasExactSynonym "pancreatic intraductal papillary-mucinous tumor" MONDO:0004286 oboInOwl:hasExactSynonym "pancreatic IPMN" -MONDO:0011812 oboInOwl:hasExactSynonym "DR syndrome" -MONDO:0011812 oboInOwl:hasExactSynonym "acrorenocular syndrome" MONDO:0011812 oboInOwl:hasExactSynonym "DRRS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011812 oboInOwl:hasExactSynonym "acro-renal-ocular syndrome" -MONDO:0011812 oboInOwl:hasExactSynonym "Duane-radial ray syndrome" -MONDO:0011812 oboInOwl:hasExactSynonym "Duane anomaly with radial ray abnormalities and deafness" +MONDO:0011812 oboInOwl:hasExactSynonym "DR syndrome" MONDO:0011812 oboInOwl:hasExactSynonym "Okihiro syndrome" +MONDO:0011812 oboInOwl:hasExactSynonym "Duane anomaly with radial ray abnormalities and deafness" +MONDO:0011812 oboInOwl:hasExactSynonym "acrorenocular syndrome" +MONDO:0011812 oboInOwl:hasExactSynonym "Duane-radial ray syndrome" MONDO:0019595 oboInOwl:hasExactSynonym "46,XY DSD due to adrenal and testicular steroidogenesis defect" MONDO:0600030 oboInOwl:hasExactSynonym "B acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" MONDO:0600030 oboInOwl:hasExactSynonym "B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) (morphologic abnormality)" MONDO:0600030 oboInOwl:hasExactSynonym "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)" MONDO:0600030 oboInOwl:hasExactSynonym "B-lymphoblastic leukemia/lymphoma with TCF3-PBX1" MONDO:0600030 oboInOwl:hasExactSynonym "B-acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" +MONDO:0011399 oboInOwl:hasExactSynonym "thalassemias, alpha-" MONDO:0011399 oboInOwl:hasExactSynonym "alpha thalassemia" MONDO:0011399 oboInOwl:hasExactSynonym "Alpha thalassaemia" MONDO:0011399 oboInOwl:hasExactSynonym "alpha-thalassemia" +MONDO:0011399 oboInOwl:hasExactSynonym "thalassemia, alpha-" MONDO:0003089 oboInOwl:hasExactSynonym "extrahepatic bile duct mucoepidermoid carcinoma" MONDO:0003089 oboInOwl:hasExactSynonym "bile duct mucoepidermoid carcinoma" MONDO:0003089 oboInOwl:hasExactSynonym "mucoepidermoid carcinoma of bile duct" @@ -120194,9 +121016,10 @@ HP:0001999 oboInOwl:hasExactSynonym "Abnormal morphology of the face" HP:0001999 oboInOwl:hasExactSynonym "Abnormal facial shape" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0016414 oboInOwl:hasExactSynonym "Lopes-Marques de Faria syndrome" MONDO:0017972 oboInOwl:hasExactSynonym "classic CLAH" +MONDO:0007047 oboInOwl:hasExactSynonym "ake" MONDO:0007047 oboInOwl:hasExactSynonym "PPKP3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007047 oboInOwl:hasExactSynonym "keratoderma, palmoplantar, punctate type 3" MONDO:0007047 oboInOwl:hasExactSynonym "punctate palmoplantar hyperkeratosis type 3" -MONDO:0007047 oboInOwl:hasExactSynonym "ake" MONDO:0007047 oboInOwl:hasExactSynonym "punctate palmoplantar keratoderma type 3" MONDO:0007047 oboInOwl:hasExactSynonym "acrokeratoelastoidosis of Costa" MONDO:0003507 oboInOwl:hasExactSynonym "germ cell choriocarcinoma of ovary" @@ -120212,6 +121035,7 @@ MONDO:0014086 oboInOwl:hasExactSynonym "osteogenesis imperfecta caused by mutati MONDO:0014086 oboInOwl:hasExactSynonym "WNT1 osteogenesis imperfecta" MONDO:0014086 oboInOwl:hasExactSynonym "OI15" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010446 oboInOwl:hasExactSynonym "Bornholm eye disease" +MONDO:0010446 oboInOwl:hasExactSynonym "Bornholm eye disease, X-linked recessive" MONDO:0011520 oboInOwl:hasExactSynonym "systemic lupus erythematosus, susceptibility to, type 2" MONDO:0011520 oboInOwl:hasExactSynonym "susceptibility to systemic lupus erythematosus 2" MONDO:0011520 oboInOwl:hasExactSynonym "SLEB2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -120236,6 +121060,7 @@ MONDO:0011050 oboInOwl:hasExactSynonym "Ellis-Yale-Winter syndrome" MONDO:0010761 oboInOwl:hasExactSynonym "Y-linked retinitis pigmentosa" MONDO:0010761 oboInOwl:hasExactSynonym "retinitis pigmentosa, Y-linked" MONDO:0010761 oboInOwl:hasExactSynonym "RPY" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010761 oboInOwl:hasExactSynonym "retinitis pigmentosa, y-linked, y-linked" MONDO:0006014 oboInOwl:hasExactSynonym "candidal: cervix" MONDO:0006014 oboInOwl:hasExactSynonym "vaginal candidiasis" MONDO:0006014 oboInOwl:hasExactSynonym "candidal: [vulvovaginitis NOS] or [cervix]" @@ -120262,6 +121087,7 @@ MONDO:0014990 oboInOwl:hasExactSynonym "TCHH uncombable hair syndrome" MONDO:0014990 oboInOwl:hasExactSynonym "UHS3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010669 oboInOwl:hasExactSynonym "FGF16 non-syndromic syndactyly" MONDO:0010669 oboInOwl:hasExactSynonym "non-syndromic syndactyly caused by mutation in FGF16" +MONDO:0010669 oboInOwl:hasExactSynonym "metacarpal 4-5 fusion, X-linked recessive" MONDO:0010669 oboInOwl:hasExactSynonym "fusion of metacarpals 4 and 5" MONDO:0017385 oboInOwl:hasExactSynonym "migrating partial seizures of infancy" MONDO:0017385 oboInOwl:hasExactSynonym "malignant migrating Partial seizures in infancy" @@ -120281,6 +121107,7 @@ GO:0016755 oboInOwl:hasExactSynonym "aminoacyltransferase activity" MONDO:0008652 oboInOwl:hasExactSynonym "congenital rocker-bottom foot" MONDO:0008652 oboInOwl:hasExactSynonym "congenital convex foot" MONDO:0008652 oboInOwl:hasExactSynonym "congenital convex pes valgus" +MONDO:0008652 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, foot deformity of" HP:0008053 oboInOwl:hasExactSynonym "Absent/small iris" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0008053 oboInOwl:hasExactSynonym "Absent/underdeveloped iris" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0013207 oboInOwl:hasExactSynonym "FECD7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -120348,6 +121175,8 @@ MONDO:0020337 oboInOwl:hasExactSynonym "CDA I" MONDO:0020337 oboInOwl:hasExactSynonym "CDA type 1" MONDO:0020337 oboInOwl:hasExactSynonym "congenital dyserythropoietic anemia type 1" MONDO:0020337 oboInOwl:hasExactSynonym "CDA type I" +MONDO:0009384 oboInOwl:hasExactSynonym "leydig cell hypoplasia with pseudohermaphroditism" +MONDO:0009384 oboInOwl:hasExactSynonym "leydig cell hypoplasia with hypergonadotropic hypogonadism" MONDO:0009384 oboInOwl:hasExactSynonym "Leydig cell hypoplasia caused by mutation in LHCGR" MONDO:0009384 oboInOwl:hasExactSynonym "LHCGR Leydig cell hypoplasia" MONDO:0600008 oboInOwl:hasExactSynonym "cytokine-associated toxicity" @@ -120396,14 +121225,17 @@ GO:0051957 oboInOwl:hasExactSynonym "up-regulation of amino acid transport" GO:0051957 oboInOwl:hasExactSynonym "positive regulation of amino acid transmembrane transport" GO:0051957 oboInOwl:hasExactSynonym "upregulation of amino acid transport" GO:0051957 oboInOwl:hasExactSynonym "up regulation of amino acid transport" +MONDO:0010611 oboInOwl:hasExactSynonym "hydrocephalus with hirschsprung disease, X-linked recessive" +MONDO:0010611 oboInOwl:hasExactSynonym "X-linked HSAS" MONDO:0010611 oboInOwl:hasExactSynonym "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius" +MONDO:0010611 oboInOwl:hasExactSynonym "Bickers-Adams syndrome" +MONDO:0010611 oboInOwl:hasExactSynonym "X-linked acqueductal stenosis" MONDO:0010611 oboInOwl:hasExactSynonym "HSAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010611 oboInOwl:hasExactSynonym "hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive" MONDO:0010611 oboInOwl:hasExactSynonym "hydrocephalus with stenosis of the aqueduct of Sylvius" MONDO:0010611 oboInOwl:hasExactSynonym "X-linked hydrocephalus with stenosis of aqueduct of Sylvius" -MONDO:0010611 oboInOwl:hasExactSynonym "X-linked acqueductal stenosis" -MONDO:0010611 oboInOwl:hasExactSynonym "Bickers-Adams syndrome" MONDO:0010611 oboInOwl:hasExactSynonym "X-linked hydrocephalus" -MONDO:0010611 oboInOwl:hasExactSynonym "X-linked HSAS" +MONDO:0010611 oboInOwl:hasExactSynonym "hydrocephalus due to aqueductal stenosis, X-linked recessive" MONDO:0016280 oboInOwl:hasExactSynonym "cervical malignant mesenchymal tumor" MONDO:0016280 oboInOwl:hasExactSynonym "malignant mesenchymal tumor of cervix uteri" MONDO:0016280 oboInOwl:hasExactSynonym "sarcoma of uterine cervix" @@ -120419,6 +121251,7 @@ MONDO:0004000 oboInOwl:hasExactSynonym "pediatric pilocytic astrocytoma" MONDO:0004000 oboInOwl:hasExactSynonym "pilocytic astrocytoma of childhood" MONDO:0004000 oboInOwl:hasExactSynonym "childhood pilocytic astrocytoma" MONDO:0008887 oboInOwl:hasExactSynonym "bronchiectasis with or without elevated sweat chloride 1" +MONDO:0008887 oboInOwl:hasExactSynonym "bronchiectasis with or without elevated sweat chloride 1, modifier of" MONDO:0008887 oboInOwl:hasExactSynonym "bronchiectasis with or without elevated sweat chloride type 1" MONDO:0003150 oboInOwl:hasExactSynonym "male reproductive disease" MONDO:0003150 oboInOwl:hasExactSynonym "Male reproductive system disorder" @@ -120470,6 +121303,7 @@ MONDO:0014672 oboInOwl:hasExactSynonym "SPARC osteogenesis imperfecta" MONDO:0014672 oboInOwl:hasExactSynonym "osteogenesis imperfecta caused by mutation in SPARC" MONDO:0014672 oboInOwl:hasExactSynonym "osteogenesis imperfecta type XVII" MONDO:0012094 oboInOwl:hasExactSynonym "prostate cancer, hereditary, 4" +MONDO:0012094 oboInOwl:hasExactSynonym "prostate cancer, susceptibility to, 4" MONDO:0012094 oboInOwl:hasExactSynonym "prostate cancer, hereditary, type 4" MONDO:0000775 oboInOwl:hasExactSynonym "allergy of exposure to drug" MONDO:0000775 oboInOwl:hasExactSynonym "exposure to drug allergic disease" @@ -120483,12 +121317,14 @@ MONDO:0007906 oboInOwl:hasExactSynonym "Dunnigan syndrome" MONDO:0007906 oboInOwl:hasExactSynonym "reverse partial lipodystrophy" MONDO:0011028 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD" MONDO:0011028 oboInOwl:hasExactSynonym "SGCD autosomal recessive limb-girdle muscular dystrophy" +MONDO:0011028 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal recessive 6" MONDO:0011028 oboInOwl:hasExactSynonym "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency" MONDO:0011028 oboInOwl:hasExactSynonym "LGMD2F" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011028 oboInOwl:hasExactSynonym "delta-sarcoglycanopathy" MONDO:0012102 oboInOwl:hasExactSynonym "JOAG1K" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012102 oboInOwl:hasExactSynonym "glaucoma 1, open angle, K" MONDO:0012102 oboInOwl:hasExactSynonym "GLC1K" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012102 oboInOwl:hasExactSynonym "glaucoma 1K, primary open angle, juvenile-onset" GO:0016051 oboInOwl:hasExactSynonym "anabolic carbohydrate metabolism" GO:0016051 oboInOwl:hasExactSynonym "carbohydrate formation" GO:0016051 oboInOwl:hasExactSynonym "anabolic carbohydrate metabolic process" @@ -120513,6 +121349,7 @@ MONDO:0004733 oboInOwl:hasExactSynonym "malignant neoplasm of the pyriform fossa MONDO:0004733 oboInOwl:hasExactSynonym "malignant pyriform sinus neoplasm" MONDO:0004733 oboInOwl:hasExactSynonym "malignant tumor of the pyriform sinus" MONDO:0011343 oboInOwl:hasExactSynonym "follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts" +MONDO:0014299 oboInOwl:hasExactSynonym "schwannomatosis-2, susceptibility to" MONDO:0014299 oboInOwl:hasExactSynonym "schwannomatosis 2" MONDO:0014299 oboInOwl:hasExactSynonym "Schwannomatosis type 2" MONDO:0013543 oboInOwl:hasExactSynonym "trypsinogen deficiency" @@ -120526,6 +121363,8 @@ MONDO:0019229 oboInOwl:hasExactSynonym "inborn ketone body catabolic process dis MONDO:0019229 oboInOwl:hasExactSynonym "inborn error of ketone body catabolic process" MONDO:0019229 oboInOwl:hasExactSynonym "rare inborn error of ketone body catabolic process" MONDO:0400003 oboInOwl:hasExactSynonym "fluorosis of the skeleton" +MONDO:0009234 oboInOwl:hasExactSynonym "kininogen deficiency" +MONDO:0009234 oboInOwl:hasExactSynonym "high molecular weight kininogen deficiency" NCBITaxon:12092 oboInOwl:hasExactSynonym "Hepatitis A virus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name MONDO:0010331 oboInOwl:hasExactSynonym "coronary heart disease, susceptibility to, 3" MONDO:0010331 oboInOwl:hasExactSynonym "coronary heart disease, susceptibility to, type 3" @@ -120548,6 +121387,7 @@ MONDO:0010613 oboInOwl:hasExactSynonym "inborn error of glycerol kinase activity MONDO:0010613 oboInOwl:hasExactSynonym "rare inborn error of glycerol kinase activity" MONDO:0010613 oboInOwl:hasExactSynonym "inborn glycerol kinase activity disorder" MONDO:0010613 oboInOwl:hasExactSynonym "glycerol kinase deficiency" +MONDO:0010613 oboInOwl:hasExactSynonym "glycerol kinase deficiency, X-linked recessive" MONDO:0005220 oboInOwl:hasExactSynonym "collecting duct carcinoma" MONDO:0005220 oboInOwl:hasExactSynonym "BDC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005220 oboInOwl:hasExactSynonym "Bellini duct carcinoma" @@ -120570,14 +121410,14 @@ MONDO:0005220 oboInOwl:hasExactSynonym "collecting duct renal cancer" MONDO:0009507 oboInOwl:hasExactSynonym "branchial dysplasia-intellectual disability-inguinal hernia syndrome" MONDO:0009507 oboInOwl:hasExactSynonym "Lambert syndrome" MONDO:0008737 oboInOwl:hasExactSynonym "fibrinogen deficiency" -MONDO:0011772 oboInOwl:hasExactSynonym "CDG syndrome type IId" +MONDO:0011772 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type IId" +MONDO:0011772 oboInOwl:hasExactSynonym "B4GALT1-CDG" MONDO:0011772 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type 2d" -MONDO:0011772 oboInOwl:hasExactSynonym "Beta-1,4-galactosyltransferase deficiency" MONDO:0011772 oboInOwl:hasExactSynonym "carbohydrate deficient glycoprotein syndrome type IId" -MONDO:0011772 oboInOwl:hasExactSynonym "B4GALT1-CDG" MONDO:0011772 oboInOwl:hasExactSynonym "CDG-IId" -MONDO:0011772 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type IId" +MONDO:0011772 oboInOwl:hasExactSynonym "CDG syndrome type IId" MONDO:0011772 oboInOwl:hasExactSynonym "CDG2D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011772 oboInOwl:hasExactSynonym "Beta-1,4-galactosyltransferase deficiency" MONDO:0019095 oboInOwl:hasExactSynonym "plague" NCBITaxon:32561 oboInOwl:hasExactSynonym "diapsids" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name GO:0051447 oboInOwl:hasExactSynonym "negative regulation of progression through meiotic cell cycle" @@ -120590,6 +121430,7 @@ CL:0000895 oboInOwl:hasExactSynonym "naive thymus-derived CD4-positive, alpha-be CL:0000895 oboInOwl:hasExactSynonym "naive thymus-derived CD4-positive, alpha-beta T-cell" CL:0000895 oboInOwl:hasExactSynonym "T.4Nve.Sp" CL:0000895 oboInOwl:hasExactSynonym "naive thymus-derived CD4-positive, alpha-beta T lymphocyte" +MONDO:0012493 oboInOwl:hasExactSynonym "restless legs syndrome 4" MONDO:0012493 oboInOwl:hasExactSynonym "RLS4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012493 oboInOwl:hasExactSynonym "restless legs syndrome, susceptibility to, 4" ENVO:01001510 oboInOwl:hasExactSynonym "congelation process" @@ -120645,13 +121486,16 @@ MONDO:0012680 oboInOwl:hasExactSynonym "NPHP7" http://purl.obolibrary.org/obo/mo MONDO:0012680 oboInOwl:hasExactSynonym "nephronophthisis 7" MONDO:0012680 oboInOwl:hasExactSynonym "nephronophthisis (disease) caused by mutation in GLIS2" MONDO:0012680 oboInOwl:hasExactSynonym "GLIS2 nephronophthisis (disease)" +MONDO:0060593 oboInOwl:hasExactSynonym "sprinting performance" MONDO:0060593 oboInOwl:hasExactSynonym "ACTN3 deficiency" +MONDO:0060593 oboInOwl:hasExactSynonym "alpha-actinin-3 deficiency" MONDO:0014533 oboInOwl:hasExactSynonym "WWOX early infantile epileptic encephalopathy" MONDO:0014533 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 28" MONDO:0014533 oboInOwl:hasExactSynonym "WWOX-related epileptic encephalopathy" MONDO:0014533 oboInOwl:hasExactSynonym "EIEE28" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014533 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in WWOX" MONDO:0014533 oboInOwl:hasExactSynonym "WOREE syndrome" +MONDO:0014533 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 28" MONDO:0014533 oboInOwl:hasExactSynonym "DEE28" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014533 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 28" GO:0009168 oboInOwl:hasExactSynonym "purine ribonucleoside monophosphate formation" @@ -120695,12 +121539,14 @@ GO:0016053 oboInOwl:hasExactSynonym "organic acid biosynthesis" MONDO:0009013 oboInOwl:hasExactSynonym "convulsive disorder, familial, with prenatal or early onset" MONDO:0011416 oboInOwl:hasExactSynonym "generalized epilepsy with febrile seizures plus, type 1" MONDO:0010110 oboInOwl:hasExactSynonym "Zimmer phocomelia" -MONDO:0020765 oboInOwl:hasExactSynonym "NEUROPATHY, CONGENITAL HYPOMYELINATING, 2" +MONDO:0020765 oboInOwl:hasExactSynonym "hypomyelinating neuropathy, congenital, 2" MONDO:0020765 oboInOwl:hasExactSynonym "CHN2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020765 oboInOwl:hasExactSynonym "NEUROPATHY, CONGENITAL HYPOMYELINATING, 2" MONDO:0012989 oboInOwl:hasExactSynonym "STIL autosomal recessive primary microcephaly" MONDO:0012989 oboInOwl:hasExactSynonym "autosomal recessive primary microcephaly caused by mutation in STIL" MONDO:0012989 oboInOwl:hasExactSynonym "microcephaly 7, primary, autosomal recessive" MONDO:0009469 oboInOwl:hasExactSynonym "BRIC1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009469 oboInOwl:hasExactSynonym "cholestasis, benign recurrent intrahepatic" MONDO:0009469 oboInOwl:hasExactSynonym "Bric type 1" MONDO:0009469 oboInOwl:hasExactSynonym "ATP8B1 benign recurrent intrahepatic cholestasis" MONDO:0009469 oboInOwl:hasExactSynonym "benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1" @@ -120732,6 +121578,7 @@ GO:0050994 oboInOwl:hasExactSynonym "regulation of lipid breakdown" MONDO:0020670 oboInOwl:hasExactSynonym "antithrombin deficiency type 2" MONDO:0011551 oboInOwl:hasExactSynonym "Dopa-responsive dystonia, autosomal recessive" MONDO:0011551 oboInOwl:hasExactSynonym "DYT5b" +MONDO:0011551 oboInOwl:hasExactSynonym "Segawa syndrome, recessive" MONDO:0011551 oboInOwl:hasExactSynonym "dopa-responsive dystonia, autosomal recessive" MONDO:0011551 oboInOwl:hasExactSynonym "autosomal recessive dopa-responsive dystonia" MONDO:0011551 oboInOwl:hasExactSynonym "autosomal recessive Segawa syndrome" @@ -120749,6 +121596,7 @@ ENVO:01000321 oboInOwl:hasExactSynonym "ocean water environment" MONDO:0008590 oboInOwl:hasExactSynonym "tremor, hereditary essential, type 1" MONDO:0008590 oboInOwl:hasExactSynonym "DRD3 essential tremor" MONDO:0008590 oboInOwl:hasExactSynonym "tremor, hereditary essential, 1" +MONDO:0008590 oboInOwl:hasExactSynonym "essential tremor, hereditary, 1" MONDO:0008590 oboInOwl:hasExactSynonym "essential tremor caused by mutation in DRD3" MONDO:0007393 oboInOwl:hasExactSynonym "Cranioacrofacial syndrome" MONDO:0008457 oboInOwl:hasExactSynonym "CACNA1A autosomal dominant cerebellar ataxia type III" @@ -120763,11 +121611,11 @@ MONDO:0014125 oboInOwl:hasExactSynonym "proximal symphalangism (disease) caused MONDO:0014125 oboInOwl:hasExactSynonym "symphalangism, proximal, type 1B" MONDO:0014125 oboInOwl:hasExactSynonym "symphalangism, proximal, 1B" MONDO:0014125 oboInOwl:hasExactSynonym "GDF5 proximal symphalangism (disease)" +MONDO:0056802 oboInOwl:hasExactSynonym "synovial bursa disease or disorder" MONDO:0056802 oboInOwl:hasExactSynonym "disorder of synovial bursa" MONDO:0056802 oboInOwl:hasExactSynonym "disorder of bursa" MONDO:0056802 oboInOwl:hasExactSynonym "disease or disorder of synovial bursa" MONDO:0056802 oboInOwl:hasExactSynonym "disease of synovial bursa" -MONDO:0056802 oboInOwl:hasExactSynonym "synovial bursa disease or disorder" MONDO:0011187 oboInOwl:hasExactSynonym "polydactyly, postaxial, type A2" MONDO:0001067 oboInOwl:hasExactSynonym "initial frambesial ulcer" MONDO:0001067 oboInOwl:hasExactSynonym "chancre of yaws" @@ -120845,6 +121693,7 @@ MONDO:0010418 oboInOwl:hasExactSynonym "X-linked spastic paraplegia type 34" MONDO:0010418 oboInOwl:hasExactSynonym "X-linked spastic paraplegia 34" MONDO:0010418 oboInOwl:hasExactSynonym "SPG34" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010418 oboInOwl:hasExactSynonym "hereditary spastic paraplegia type 34" +MONDO:0010418 oboInOwl:hasExactSynonym "spastic paraplegia 34, X-linked, X-linked recessive" MONDO:0005729 oboInOwl:hasExactSynonym "disease due to Dicrocoeliidae" MONDO:0005729 oboInOwl:hasExactSynonym "Dicrocoelium infectious disease" MONDO:0005729 oboInOwl:hasExactSynonym "Dicrocoelium disease or disorder" @@ -120865,6 +121714,7 @@ MONDO:0007204 oboInOwl:hasExactSynonym "Cole-Carpenter syndrome 1" MONDO:0007204 oboInOwl:hasExactSynonym "Cole-Carpenter syndrome caused by mutation in P4HB" MONDO:0007204 oboInOwl:hasExactSynonym "P4HB Cole-Carpenter syndrome" MONDO:0013756 oboInOwl:hasExactSynonym "hypertrophic osteoarthropathy, primary, autosomal recessive, 2" +MONDO:0013756 oboInOwl:hasExactSynonym "hypertrophic osteoarthropathy, primary, autosomal recessive 2" MONDO:0013756 oboInOwl:hasExactSynonym "SLCO2A1 primary hypertrophic osteoarthropathy" MONDO:0013756 oboInOwl:hasExactSynonym "primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1" MONDO:0013756 oboInOwl:hasExactSynonym "hypertrophic osteoarthropathy, primary, autosomal recessive, type 2" @@ -120911,6 +121761,7 @@ MONDO:0018301 oboInOwl:hasExactSynonym "ulcerative cystitis" MONDO:0018301 oboInOwl:hasExactSynonym "IC/PBS" MONDO:0018301 oboInOwl:hasExactSynonym "interstitial cystitis/painful bladder syndrome" MONDO:0018301 oboInOwl:hasExactSynonym "painful bladder syndrome" +MONDO:0033638 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 8" MONDO:0033638 oboInOwl:hasExactSynonym "MC4DN8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020767 oboInOwl:hasExactSynonym "cauda equina syndrome with neurogenic bladder" CL:0002059 oboInOwl:hasExactSynonym "DC.8+.Th" @@ -120934,6 +121785,7 @@ MONDO:0018796 oboInOwl:hasExactSynonym "Cconstitutional thrombocytopenia without MONDO:0018796 oboInOwl:hasExactSynonym "non-syndromic constitutional thrombocytopenia" MONDO:0009677 oboInOwl:hasExactSynonym "DMDA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009677 oboInOwl:hasExactSynonym "deficiency of sarcoglycan gamma" +MONDO:0009677 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal recessive 5" MONDO:0009677 oboInOwl:hasExactSynonym "severe childhood autosomal recessive muscular dystrophy North African type" MONDO:0009677 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, type 2C" MONDO:0009677 oboInOwl:hasExactSynonym "SCARMD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -121018,6 +121870,7 @@ GO:1903566 oboInOwl:hasExactSynonym "up regulation of protein localization to ci GO:1903566 oboInOwl:hasExactSynonym "up-regulation of protein localization to cilium" GO:1903566 oboInOwl:hasExactSynonym "upregulation of protein localization to cilium" MONDO:0013535 oboInOwl:hasExactSynonym "hydroxyacyl glutathione hydrolase deficiency" +MONDO:0013535 oboInOwl:hasExactSynonym "glyoxalase II deficiency" MONDO:0033135 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, demyelinating, type 1G" MONDO:0033135 oboInOwl:hasExactSynonym "PMP2-related Charcot-Marie-Tooth disease type 1" MONDO:0033135 oboInOwl:hasExactSynonym "CMT1G" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -121043,6 +121896,7 @@ NCBITaxon:11152 oboInOwl:hasExactSynonym "Turkey enteric coronavirus" http://pur MONDO:0020696 oboInOwl:hasExactSynonym "vitamin b12 deficiency" MONDO:0020696 oboInOwl:hasExactSynonym "cobalamin deficiency" MONDO:0020696 oboInOwl:hasExactSynonym "hypocobalaminemia" +MONDO:0011577 oboInOwl:hasExactSynonym "proximal myopathy and ophthalmoplegia" MONDO:0011577 oboInOwl:hasExactSynonym "myopathy, proximal, and ophthalmoplegia" GO:1905953 oboInOwl:hasExactSynonym "down regulation of lipid localization" GO:1905953 oboInOwl:hasExactSynonym "negative regulation of lipid localisation" @@ -121052,6 +121906,7 @@ GO:1905953 oboInOwl:hasExactSynonym "down regulation of lipid localisation" GO:1905953 oboInOwl:hasExactSynonym "down-regulation of lipid localisation" GO:1905953 oboInOwl:hasExactSynonym "downregulation of lipid localization" MONDO:0015906 oboInOwl:hasExactSynonym "rare disorder with primary hypogonadism" +MONDO:0100250 oboInOwl:hasExactSynonym "46XX sex reversal 1, X-linked dominant" MONDO:0100250 oboInOwl:hasExactSynonym "ovotesticular disorder of Sex development" MONDO:0100250 oboInOwl:hasExactSynonym "46,XX gonadal dysgenesis, complete, SRY-positive" MONDO:0100250 oboInOwl:hasExactSynonym "46,XX Sex reversal type 1" @@ -121065,6 +121920,7 @@ MONDO:0009562 oboInOwl:hasExactSynonym "beta-mannosidosis" MONDO:0009562 oboInOwl:hasExactSynonym "Beta-mannosidase deficiency" MONDO:0009562 oboInOwl:hasExactSynonym "beta-mannosidase deficiency" MONDO:0009562 oboInOwl:hasExactSynonym "Beta-D-mannosidosis" +MONDO:0009562 oboInOwl:hasExactSynonym "mannosidosis, beta" MONDO:0009562 oboInOwl:hasExactSynonym "lysosomal beta-mannosidase deficiency" GO:0065008 oboInOwl:hasExactSynonym "regulation of biological characteristic" GO:0065008 oboInOwl:hasExactSynonym "regulation of biological attribute" @@ -121093,6 +121949,10 @@ GO:1900424 oboInOwl:hasExactSynonym "regulation of defence response to bacteria" GO:1900424 oboInOwl:hasExactSynonym "regulation of defense response to bacteria" NCBITaxon:6936 oboInOwl:hasExactSynonym "softbacked ticks" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name NCBITaxon:6936 oboInOwl:hasExactSynonym "soft ticks" http://purl.obolibrary.org/obo/ncbitaxon#common_name +MONDO:0013921 oboInOwl:hasExactSynonym "herpes simplex encephalitis caused by mutation in TICAM1" +MONDO:0013921 oboInOwl:hasExactSynonym "Herpes simplex encephalitis, susceptibility to, type 4" +MONDO:0013921 oboInOwl:hasExactSynonym "herpes simplex encephalitis, susceptibility to, 4" +MONDO:0013921 oboInOwl:hasExactSynonym "TICAM1 herpes simplex encephalitis" MONDO:0036511 oboInOwl:hasExactSynonym "kidney cancer of childhood" MONDO:0036511 oboInOwl:hasExactSynonym "childhood malignant renal tumor" MONDO:0036511 oboInOwl:hasExactSynonym "childhood malignant kidney neoplasm" @@ -121100,10 +121960,6 @@ MONDO:0036511 oboInOwl:hasExactSynonym "pediatric kidney cancer" MONDO:0036511 oboInOwl:hasExactSynonym "childhood malignant kidney tumor" MONDO:0036511 oboInOwl:hasExactSynonym "childhood malignant renal neoplasm" MONDO:0036511 oboInOwl:hasExactSynonym "childhood kidney cancer" -MONDO:0013921 oboInOwl:hasExactSynonym "herpes simplex encephalitis caused by mutation in TICAM1" -MONDO:0013921 oboInOwl:hasExactSynonym "Herpes simplex encephalitis, susceptibility to, type 4" -MONDO:0013921 oboInOwl:hasExactSynonym "herpes simplex encephalitis, susceptibility to, 4" -MONDO:0013921 oboInOwl:hasExactSynonym "TICAM1 herpes simplex encephalitis" MONDO:0024268 oboInOwl:hasExactSynonym "steroid-modified tinea infection" MONDO:0024268 oboInOwl:hasExactSynonym "stratum corneum of epidermis fungal infectious disease" MONDO:0005025 oboInOwl:hasExactSynonym "endocarditis" @@ -121117,6 +121973,7 @@ MONDO:0006583 oboInOwl:hasExactSynonym "necrobiosis lipoidica" MONDO:0008401 oboInOwl:hasExactSynonym "mixed tumor of the salivary gland" MONDO:0008401 oboInOwl:hasExactSynonym "pleomorphic adenoma" MONDO:0008401 oboInOwl:hasExactSynonym "pleomorphic adenoma (morphologic abnormality)" +MONDO:0008401 oboInOwl:hasExactSynonym "adenomas, salivary gland pleomorphic, somatic" MONDO:0008401 oboInOwl:hasExactSynonym "tumor, mixed, benign" MONDO:0014338 oboInOwl:hasExactSynonym "immunodeficiency, common variable, type 11" MONDO:0014338 oboInOwl:hasExactSynonym "IL21-related infantile IBD" @@ -121243,10 +122100,6 @@ MONDO:0006015 oboInOwl:hasExactSynonym "meningococcal hemorrhagic adrenalitis" MONDO:0006015 oboInOwl:hasExactSynonym "WFS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003372 oboInOwl:hasExactSynonym "leiomyosarcoma of mammalian vulva" MONDO:0003372 oboInOwl:hasExactSynonym "mammalian vulva leiomyosarcoma" -MONDO:0012962 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility to, type 2" -MONDO:0012962 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility to, 2" -MONDO:0012962 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility caused by mutation in EPO" -MONDO:0012962 oboInOwl:hasExactSynonym "EPO microvascular complications of diabetes, susceptibility" MONDO:0004703 oboInOwl:hasExactSynonym "stage 0is bladder cancer" MONDO:0004703 oboInOwl:hasExactSynonym "stage 0is bladder urothelial carcinoma" MONDO:0004703 oboInOwl:hasExactSynonym "urinary bladder flat CIS" @@ -121275,6 +122128,11 @@ MONDO:0004703 oboInOwl:hasExactSynonym "stage 0is carcinoma of urinary bladder" MONDO:0004703 oboInOwl:hasExactSynonym "stage 0is bladder urothelial carcinoma aJCC v6 and v7" MONDO:0004703 oboInOwl:hasExactSynonym "stage 0is bladder urothelial carcinoma aJCC v7" MONDO:0004703 oboInOwl:hasExactSynonym "bladder flat CIS" +MONDO:0012962 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility to, type 2" +MONDO:0012962 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility to, 2" +MONDO:0012962 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility caused by mutation in EPO" +MONDO:0012962 oboInOwl:hasExactSynonym "microvascular complications of diabetes 2" +MONDO:0012962 oboInOwl:hasExactSynonym "EPO microvascular complications of diabetes, susceptibility" MONDO:0002955 oboInOwl:hasExactSynonym "basal cell carcinoma of the vulva" MONDO:0002955 oboInOwl:hasExactSynonym "mammalian vulva skin basal cell carcinoma" MONDO:0002955 oboInOwl:hasExactSynonym "skin basal cell carcinoma of mammalian vulva" @@ -121292,6 +122150,7 @@ MONDO:0020711 oboInOwl:hasExactSynonym "PerRTH" MONDO:0011179 oboInOwl:hasExactSynonym "leishmaniasis, tegumentary, susceptibility to" GO:0006206 oboInOwl:hasExactSynonym "pyrimidine base metabolism" GO:0006206 oboInOwl:hasExactSynonym "pyrimidine base metabolic process" +MONDO:0008653 oboInOwl:hasExactSynonym "Vesicoureteral reflux" MONDO:0008653 oboInOwl:hasExactSynonym "VUR1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008653 oboInOwl:hasExactSynonym "vesicoureteral reflux 1" MONDO:0013208 oboInOwl:hasExactSynonym "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome" @@ -121335,15 +122194,16 @@ MONDO:0021260 oboInOwl:hasExactSynonym "sensory ganglion disease" MONDO:0021260 oboInOwl:hasExactSynonym "disease of sensory ganglion" MONDO:0021260 oboInOwl:hasExactSynonym "sensory ganglion disease or disorder" MONDO:0021260 oboInOwl:hasExactSynonym "disease or disorder of sensory ganglion" +MONDO:0012511 oboInOwl:hasExactSynonym "preterm premature rupture of the membranes, susceptibility to" MONDO:0012511 oboInOwl:hasExactSynonym "PPROM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012511 oboInOwl:hasExactSynonym "preterm premature rupture of the membranes" MONDO:0007822 oboInOwl:hasExactSynonym "incisors, long upper central" GO:0003016 oboInOwl:hasExactSynonym "respiratory gaseous exchange" -NCBITaxon:50557 oboInOwl:hasExactSynonym "true insects" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name GO:1901293 oboInOwl:hasExactSynonym "nucleoside phosphate formation" GO:1901293 oboInOwl:hasExactSynonym "nucleoside phosphate anabolism" GO:1901293 oboInOwl:hasExactSynonym "nucleoside phosphate biosynthesis" GO:1901293 oboInOwl:hasExactSynonym "nucleoside phosphate synthesis" +NCBITaxon:50557 oboInOwl:hasExactSynonym "true insects" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name CHEBI:24471 oboInOwl:hasExactSynonym "halogen molecular entity" MONDO:0001329 oboInOwl:hasExactSynonym "spasm of accommodation" MONDO:0004884 oboInOwl:hasExactSynonym "neurodegenerative disease of eyeball of camera-type eye" @@ -121533,6 +122393,7 @@ MONDO:0037250 oboInOwl:hasExactSynonym "neoplasm of testis of childhood" MONDO:0037250 oboInOwl:hasExactSynonym "childhood neoplasm of the testis" MONDO:0037250 oboInOwl:hasExactSynonym "childhood neoplasm of testis" MONDO:0037250 oboInOwl:hasExactSynonym "pediatric neoplasm of testis" +MONDO:0009235 oboInOwl:hasExactSynonym "fleck retina, familial benign" MONDO:0002443 oboInOwl:hasExactSynonym "bruxism - teeth grinding" MONDO:0002443 oboInOwl:hasExactSynonym "teeth grinding" MONDO:0002443 oboInOwl:hasExactSynonym "bruxism (disease)" @@ -121550,6 +122411,7 @@ MONDO:0001380 oboInOwl:hasExactSynonym "superior surface of bladder" MONDO:0001380 oboInOwl:hasExactSynonym "malignant neoplasm of apex of urinary bladder" MONDO:0001380 oboInOwl:hasExactSynonym "malignant tumor of vault of bladder" MONDO:0001380 oboInOwl:hasExactSynonym "malignant fundus of urinary bladder neoplasm" +MONDO:0010332 oboInOwl:hasExactSynonym "Cubitus valgus with mental retardation and unusual facies, X-linked recessive" MONDO:0012785 oboInOwl:hasExactSynonym "IHPS3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012785 oboInOwl:hasExactSynonym "pyloric stenosis, infantile hypertrophic, 3" MONDO:0008038 oboInOwl:hasExactSynonym "myelocerebellar disorder" @@ -121558,6 +122420,7 @@ MONDO:0011415 oboInOwl:hasExactSynonym "Leber congenital amaurosis caused by mut MONDO:0011415 oboInOwl:hasExactSynonym "SPATA7 Leber congenital amaurosis" MONDO:0011415 oboInOwl:hasExactSynonym "LCA3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011415 oboInOwl:hasExactSynonym "Leber congenital amaurosis 3" +MONDO:0011415 oboInOwl:hasExactSynonym "retinitis pigmentosa, juvenile, autosomal recessive" MONDO:0011415 oboInOwl:hasExactSynonym "Leber congenital amaurosis type 3" MONDO:0016667 oboInOwl:hasExactSynonym "Double heterozygotes sickling disorder" CHEBI:28976 oboInOwl:hasExactSynonym "carbonic acid" @@ -121608,6 +122471,7 @@ MONDO:0010859 oboInOwl:hasExactSynonym "atrioventricular septal defect caused by MONDO:0010859 oboInOwl:hasExactSynonym "GJA1 atrioventricular septal defect" MONDO:0010859 oboInOwl:hasExactSynonym "atrioventricular septal defect type 3" MONDO:0010859 oboInOwl:hasExactSynonym "atrioventricular septal defect 3" +MONDO:0024464 oboInOwl:hasExactSynonym "pituitary hormone deficiency, combined or isolated, 1" MONDO:0024464 oboInOwl:hasExactSynonym "POU1F1 combined pituitary hormone deficiencies, genetic form" MONDO:0024464 oboInOwl:hasExactSynonym "CPHD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024464 oboInOwl:hasExactSynonym "combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1" @@ -121626,6 +122490,7 @@ MONDO:0008738 oboInOwl:hasExactSynonym "aganglionosis, total intestinal" MONDO:0014534 oboInOwl:hasExactSynonym "KATNB1 Microlissencephaly" MONDO:0014534 oboInOwl:hasExactSynonym "lissencephaly 6 with microcephaly" MONDO:0014534 oboInOwl:hasExactSynonym "Microlissencephaly caused by mutation in KATNB1" +MONDO:0014534 oboInOwl:hasExactSynonym "lissencephaly 6, with microcephaly" MONDO:0014534 oboInOwl:hasExactSynonym "microlissencephaly caused by mutation in KATNB1" MONDO:0014534 oboInOwl:hasExactSynonym "KATNB1 microlissencephaly" GO:0003352 oboInOwl:hasExactSynonym "regulation of microtubule-based flagellum movement" @@ -121634,6 +122499,7 @@ MONDO:0004001 oboInOwl:hasExactSynonym "compartment syndrome" MONDO:0004326 oboInOwl:hasExactSynonym "inverted papilloma of sphenoid sinus" MONDO:0004326 oboInOwl:hasExactSynonym "sphenoidal sinus inverted papilloma" MONDO:0004326 oboInOwl:hasExactSynonym "inverted papilloma of the sphenoid sinus" +MONDO:0033552 oboInOwl:hasExactSynonym "blood group, Lewis" GO:0016054 oboInOwl:hasExactSynonym "organic acid degradation" GO:0016054 oboInOwl:hasExactSynonym "organic acid breakdown" GO:0016054 oboInOwl:hasExactSynonym "organic acid catabolism" @@ -121747,6 +122613,10 @@ CL:0000484 oboInOwl:hasExactSynonym "MCTC" CL:0000484 oboInOwl:hasExactSynonym "MC(TC)" GO:0009566 oboInOwl:hasExactSynonym "syngamy" MONDO:0009899 oboInOwl:hasExactSynonym "polyhydramnios, chronic idiopathic" +MONDO:0020671 oboInOwl:hasExactSynonym "stroke, susceptibility to" +MONDO:0020671 oboInOwl:hasExactSynonym "ischemic stroke, susceptibility to" +MONDO:0020671 oboInOwl:hasExactSynonym "stroke, ischemic, susceptibility to" +MONDO:0020671 oboInOwl:hasExactSynonym "cerebral infarction, susceptibility to" MONDO:0000650 oboInOwl:hasExactSynonym "peritoneum benign neoplasm" MONDO:0000650 oboInOwl:hasExactSynonym "benign peritoneal neoplasm" MONDO:0010803 oboInOwl:hasExactSynonym "Eiken syndrome" @@ -121754,6 +122624,7 @@ GO:0001956 oboInOwl:hasExactSynonym "upregulation of neurotransmitter secretion" GO:0001956 oboInOwl:hasExactSynonym "up regulation of neurotransmitter secretion" GO:0001956 oboInOwl:hasExactSynonym "up-regulation of neurotransmitter secretion" MONDO:0010709 oboInOwl:hasExactSynonym "Laxova-Opitz syndrome" +MONDO:0010709 oboInOwl:hasExactSynonym "Waisman syndrome, X-linked recessive" MONDO:0010709 oboInOwl:hasExactSynonym "early-onset parkinsonism-intellectual disability syndrome" MONDO:0010709 oboInOwl:hasExactSynonym "Waisman syndrome" MONDO:0019438 oboInOwl:hasExactSynonym "primary amyloidosis" @@ -121787,6 +122658,7 @@ MONDO:0006718 oboInOwl:hasExactSynonym "Treponema pallidum skin disease caused b MONDO:0019096 oboInOwl:hasExactSynonym "rare pulmonary hypertension" MONDO:0013367 oboInOwl:hasExactSynonym "LQT2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013367 oboInOwl:hasExactSynonym "long QT syndrome 2" +MONDO:0013367 oboInOwl:hasExactSynonym "Long QT syndrome, acquired, reduced susceptibility to" MONDO:0013367 oboInOwl:hasExactSynonym "long QT syndrome type 2" MONDO:0014313 oboInOwl:hasExactSynonym "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity" MONDO:0014313 oboInOwl:hasExactSynonym "immunodeficiency type 20" @@ -121831,7 +122703,6 @@ MONDO:0040566 oboInOwl:hasExactSynonym "glutathione metabolism disorder, inherit MONDO:0040566 oboInOwl:hasExactSynonym "rare inborn error of glutathione metabolic process" HP:0001337 oboInOwl:hasExactSynonym "Tremors" http://purl.obolibrary.org/obo/hp.obo#plural_form HP:0001337 oboInOwl:hasExactSynonym "Tremor" http://purl.obolibrary.org/obo/hp.obo#layperson -MONDO:0014244 oboInOwl:hasExactSynonym "SCN11A autosomal dominant hereditary sensory and autonomic neuropathy" MONDO:0014244 oboInOwl:hasExactSynonym "HSAN with hyperhidrosis and gastrointestinal dysfunction" MONDO:0014244 oboInOwl:hasExactSynonym "HSAN7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014244 oboInOwl:hasExactSynonym "hereditary sensory and autonomic neuropathy type VII" @@ -121840,6 +122711,7 @@ MONDO:0014244 oboInOwl:hasExactSynonym "autosomal dominant hereditary sensory an MONDO:0014244 oboInOwl:hasExactSynonym "hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction" MONDO:0014244 oboInOwl:hasExactSynonym "congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction" MONDO:0014244 oboInOwl:hasExactSynonym "CIP with hyperhidrosis and gastrointestinal dysfunction" +MONDO:0014244 oboInOwl:hasExactSynonym "SCN11A autosomal dominant hereditary sensory and autonomic neuropathy" GO:0097711 oboInOwl:hasExactSynonym "ciliary basal body docking" MONDO:0002927 oboInOwl:hasExactSynonym "spindle cell sarcoma" MONDO:0008237 oboInOwl:hasExactSynonym "Stoll-Lévy-Francfort syndrome" @@ -121861,6 +122733,7 @@ MONDO:0004032 oboInOwl:hasExactSynonym "ovarian mixed epithelial carcinoma" MONDO:0004032 oboInOwl:hasExactSynonym "ovarian Seromucinous carcinoma" MONDO:0004032 oboInOwl:hasExactSynonym "malignant ovarian mixed epithelial neoplasm" MONDO:0004032 oboInOwl:hasExactSynonym "mixed epithelial carcinoma of ovary" +MONDO:0033639 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 10" MONDO:0033639 oboInOwl:hasExactSynonym "MC4DN10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008623 oboInOwl:hasExactSynonym "Undritz anomaly" MONDO:0001523 oboInOwl:hasExactSynonym "luxation of eye" @@ -121915,6 +122788,7 @@ MONDO:0011188 oboInOwl:hasExactSynonym "arrhythmogenic right ventricular dysplas MONDO:0011188 oboInOwl:hasExactSynonym "ARVD3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011188 oboInOwl:hasExactSynonym "ARVC3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011188 oboInOwl:hasExactSynonym "arrhythmogenic right ventricular cardiomyopathy 3" +MONDO:0012134 oboInOwl:hasExactSynonym "epilepsy, juvenile myoclonic 3" MONDO:0012134 oboInOwl:hasExactSynonym "EJM3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012134 oboInOwl:hasExactSynonym "myoclonic epilepsy, juvenile, susceptibility to, 3" MONDO:0018296 oboInOwl:hasExactSynonym "CDG with developmental anomaly" @@ -121957,6 +122831,7 @@ MONDO:0013922 oboInOwl:hasExactSynonym "microcephalic primordial dwarfism, Daube MONDO:0013922 oboInOwl:hasExactSynonym "NIN Seckel syndrome" MONDO:0008161 oboInOwl:hasExactSynonym "otodental dysplasia" MONDO:0008161 oboInOwl:hasExactSynonym "otodental syndrome" +MONDO:0008161 oboInOwl:hasExactSynonym "otodental dysplasia chromosome deletion syndrome" MONDO:0008161 oboInOwl:hasExactSynonym "globodontia" MONDO:0001896 oboInOwl:hasExactSynonym "non-communicating hydrocephalus" MONDO:0005026 oboInOwl:hasExactSynonym "endometrioid adenocarcinoma" @@ -121972,6 +122847,7 @@ MONDO:0011578 oboInOwl:hasExactSynonym "ptc-RCC" GO:0001503 oboInOwl:hasExactSynonym "osteogenesis" GO:0001503 oboInOwl:hasExactSynonym "bone formation" GO:0001503 oboInOwl:hasExactSynonym "bone biosynthesis" +MONDO:0010868 oboInOwl:hasExactSynonym "rippling muscle disease-1" MONDO:0010868 oboInOwl:hasExactSynonym "rippling muscle disease 1" MONDO:0010868 oboInOwl:hasExactSynonym "RMD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012520 oboInOwl:hasExactSynonym "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" @@ -121983,6 +122859,7 @@ MONDO:0000748 oboInOwl:hasExactSynonym "mastoid process of temporal bone inflamm MONDO:0000748 oboInOwl:hasExactSynonym "mastoiditis" MONDO:0011814 oboInOwl:hasExactSynonym "Smith-McCort dysplasia caused by mutation in DYM" MONDO:0011814 oboInOwl:hasExactSynonym "DYM Smith-McCort dysplasia" +MONDO:0011814 oboInOwl:hasExactSynonym "Smith-McCort dysplasia" MONDO:0011814 oboInOwl:hasExactSynonym "Smith-McCort dysplasia type 1" MONDO:0011814 oboInOwl:hasExactSynonym "Smith-McCort dysplasia 1" GO:1903788 oboInOwl:hasExactSynonym "positive regulation of glutathione synthesis" @@ -122009,8 +122886,8 @@ MONDO:0015177 oboInOwl:hasExactSynonym "regressive metaphyseal dysplasia" MONDO:0015177 oboInOwl:hasExactSynonym "Maroteaux-Verloes-Stanescu syndrome" MONDO:0020710 oboInOwl:hasExactSynonym "infection of amniotic cavity" MONDO:0020710 oboInOwl:hasExactSynonym "amnionitis" -GO:0045934 oboInOwl:hasExactSynonym "down-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process" GO:0045934 oboInOwl:hasExactSynonym "downregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process" +GO:0045934 oboInOwl:hasExactSynonym "down-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process" GO:0045934 oboInOwl:hasExactSynonym "down regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process" GO:0045934 oboInOwl:hasExactSynonym "negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism" MONDO:0022723 oboInOwl:hasExactSynonym "chondrodysplasia" @@ -122040,8 +122917,8 @@ CHEBI:35137 oboInOwl:hasExactSynonym "hemoprotein" MONDO:0007071 oboInOwl:hasExactSynonym "adrenocortical hypofunction, chronic primary congenital" MONDO:0008402 oboInOwl:hasExactSynonym "Say-Barber-Hobbs syndrome" MONDO:0014339 oboInOwl:hasExactSynonym "spinocerebellar ataxia, autosomal recessive type 16" -MONDO:0014339 oboInOwl:hasExactSynonym "SCAR16" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014339 oboInOwl:hasExactSynonym "autosomal recessive spinocerebellar ataxia 16" +MONDO:0014339 oboInOwl:hasExactSynonym "SCAR16" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014339 oboInOwl:hasExactSynonym "autosomal recessive cerebellar ataxia caused by mutation in STUB1" MONDO:0014339 oboInOwl:hasExactSynonym "STUB1 autosomal recessive cerebellar ataxia" MONDO:0014339 oboInOwl:hasExactSynonym "spinocerebellar ataxia autosomal recessive type 16" @@ -122050,10 +122927,12 @@ GO:0032891 oboInOwl:hasExactSynonym "downregulation of organic acid transport" GO:0032891 oboInOwl:hasExactSynonym "down-regulation of organic acid transport" GO:0032891 oboInOwl:hasExactSynonym "down regulation of organic acid transport" MONDO:0009960 oboInOwl:hasExactSynonym "inflammatory bowel disease type 1" +MONDO:0009960 oboInOwl:hasExactSynonym "crohn disease-associated growth failure" MONDO:0009960 oboInOwl:hasExactSynonym "inflammatory bowel disease 1" MONDO:0009960 oboInOwl:hasExactSynonym "NOD2 inflammatory bowel disease" MONDO:0009960 oboInOwl:hasExactSynonym "inflammatory bowel disease caused by mutation in NOD2" MONDO:0009960 oboInOwl:hasExactSynonym "IBD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009960 oboInOwl:hasExactSynonym "inflammatory bowel disease 1, Crohn disease" MONDO:0002058 oboInOwl:hasExactSynonym "Ademoma - breast" MONDO:0002058 oboInOwl:hasExactSynonym "breast adenoma" MONDO:0021809 oboInOwl:hasExactSynonym "primary dysautonomia" @@ -122094,13 +122973,13 @@ MONDO:0004696 oboInOwl:hasExactSynonym "stage 0 larynx carcinoma" MONDO:0004696 oboInOwl:hasExactSynonym "stage 0 laryngeal cancer aJCC v6" MONDO:0004696 oboInOwl:hasExactSynonym "stage 0 laryngeal cancer aJCC v7" MONDO:0004696 oboInOwl:hasExactSynonym "stage 0 laryngeal cancer aJCC v6, v7, and V8" +MONDO:0009843 oboInOwl:hasExactSynonym "hypomyelinating leukodystrophy 3" MONDO:0009843 oboInOwl:hasExactSynonym "HLD3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009843 oboInOwl:hasExactSynonym "leukodystrophy, hypomyelinating, type 3" MONDO:0009843 oboInOwl:hasExactSynonym "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation" MONDO:0009843 oboInOwl:hasExactSynonym "AIMP1 leukodystrophy" MONDO:0009843 oboInOwl:hasExactSynonym "hypomyelinating leukodystrophy type 3" MONDO:0009843 oboInOwl:hasExactSynonym "leukodystrophy caused by mutation in AIMP1" -MONDO:0009843 oboInOwl:hasExactSynonym "hypomyelinating leukodystrophy 3" MONDO:0014693 oboInOwl:hasExactSynonym "NS10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014693 oboInOwl:hasExactSynonym "Noonan syndrome caused by mutation in LZTR1" MONDO:0014693 oboInOwl:hasExactSynonym "Noonan syndrome type 10" @@ -122127,6 +123006,8 @@ MONDO:0001328 oboInOwl:hasExactSynonym "thyroid hormone resistance syndrome" MONDO:0010120 oboInOwl:hasExactSynonym "THC3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010120 oboInOwl:hasExactSynonym "thrombocytopenia 3" MONDO:0011409 oboInOwl:hasExactSynonym "hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection" +MONDO:0011409 oboInOwl:hasExactSynonym "hepatic fibrosis susceptibility due to schistosoma mansoni infection" +MONDO:0013609 oboInOwl:hasExactSynonym "meckel syndrome 10" MONDO:0013609 oboInOwl:hasExactSynonym "Meckel syndrome caused by mutation in B9D2" MONDO:0013609 oboInOwl:hasExactSynonym "Meckel syndrome, type 10" MONDO:0013609 oboInOwl:hasExactSynonym "B9D2 Meckel syndrome" @@ -122208,12 +123089,15 @@ MONDO:0018682 oboInOwl:hasExactSynonym "congenital insensitivity to pain with pr MONDO:0018682 oboInOwl:hasExactSynonym "congenital absence of pain with severe intellectual disability" MONDO:0009563 oboInOwl:hasExactSynonym "BCKD deficiency" MONDO:0009563 oboInOwl:hasExactSynonym "BCKDH deficiency" +MONDO:0009563 oboInOwl:hasExactSynonym "maple syrup urine disease, type IA" MONDO:0009563 oboInOwl:hasExactSynonym "Ketoacidaemia" MONDO:0009563 oboInOwl:hasExactSynonym "branched-chain ketoaciduria" MONDO:0009563 oboInOwl:hasExactSynonym "maple syrup urine disease" MONDO:0009563 oboInOwl:hasExactSynonym "branched-chain 2-ketoacid dehydrogenase deficiency" MONDO:0009563 oboInOwl:hasExactSynonym "MSUD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009563 oboInOwl:hasExactSynonym "maple syrup urine disease, type II" MONDO:0009563 oboInOwl:hasExactSynonym "branched chain ketoaciduria" +MONDO:0009563 oboInOwl:hasExactSynonym "maple syrup urine disease, type IB" MONDO:0008793 oboInOwl:hasExactSynonym "angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert" GO:0006140 oboInOwl:hasExactSynonym "regulation of nucleotide metabolism" MONDO:0014118 oboInOwl:hasExactSynonym "vps45 deficiency" @@ -122236,6 +123120,7 @@ MONDO:0013055 oboInOwl:hasExactSynonym "Stargardt macular degeneration, absent o MONDO:0011743 oboInOwl:hasExactSynonym "familial Alzheimer's disease, type 4" MONDO:0011743 oboInOwl:hasExactSynonym "Alzheimer disease, familial4" MONDO:0011743 oboInOwl:hasExactSynonym "Alzheimer disease 4" +MONDO:0011743 oboInOwl:hasExactSynonym "Alzheimer disease-4" MONDO:0011743 oboInOwl:hasExactSynonym "Alzheimer's disease type 4" MONDO:0011743 oboInOwl:hasExactSynonym "familial Alzheimer disease, type 4" MONDO:0011743 oboInOwl:hasExactSynonym "AD4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -122247,6 +123132,7 @@ MONDO:0020712 oboInOwl:hasExactSynonym "46,XY true hermaphroditism, SRY-related" MONDO:0020712 oboInOwl:hasExactSynonym "46,XY sex reversal, SRY-related" MONDO:0020712 oboInOwl:hasExactSynonym "46,XY gonadal dysgenesis, complete, SRY-related" MONDO:0020712 oboInOwl:hasExactSynonym "SRXY1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020712 oboInOwl:hasExactSynonym "46XY sex reversal 1, Y-linked" MONDO:0016690 oboInOwl:hasExactSynonym "PXA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016690 oboInOwl:hasExactSynonym "pleomorphic Xantho-astrocytoma" NCBITaxon:272561 oboInOwl:hasExactSynonym "Chlamydia trachomatis strain D/UW-3/CX" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name @@ -122355,6 +123241,7 @@ MONDO:0014088 oboInOwl:hasExactSynonym "familial advanced sleep phase syndrome 2 MONDO:0014088 oboInOwl:hasExactSynonym "FASPS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014088 oboInOwl:hasExactSynonym "CSNK1D advanced sleep phase syndrome" MONDO:0014088 oboInOwl:hasExactSynonym "advanced sleep phase syndrome caused by mutation in CSNK1D" +MONDO:0014088 oboInOwl:hasExactSynonym "advanced sleep-phase syndrome, familial, 2" MONDO:0011522 oboInOwl:hasExactSynonym "spastic paraplegia 14" MONDO:0011522 oboInOwl:hasExactSynonym "hereditary spastic paraplegia type 14" MONDO:0011522 oboInOwl:hasExactSynonym "SPG14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -122389,6 +123276,7 @@ MONDO:0018532 oboInOwl:hasExactSynonym "adenocarcinoma of the liver and intrahep MONDO:0018532 oboInOwl:hasExactSynonym "adenocarcinoma of liver and IBT" MONDO:0018532 oboInOwl:hasExactSynonym "adenocarcinoma of the liver and IBT" MONDO:0015227 oboInOwl:hasExactSynonym "nonsyndromic limb malformation" +MONDO:0012963 oboInOwl:hasExactSynonym "microvascular complications of diabetes 3" MONDO:0012963 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility to, type 3" MONDO:0012963 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility caused by mutation in ACE" MONDO:0012963 oboInOwl:hasExactSynonym "ACE microvascular complications of diabetes, susceptibility" @@ -122404,6 +123292,7 @@ MONDO:0012104 oboInOwl:hasExactSynonym "progressive cephalothoracic lipodystroph MONDO:0012104 oboInOwl:hasExactSynonym "Barraquer-Simons syndrome" MONDO:0013662 oboInOwl:hasExactSynonym "Barrett's oesophagus" MONDO:0013662 oboInOwl:hasExactSynonym "Barrett's ulcer of esophagus" +MONDO:0013662 oboInOwl:hasExactSynonym "Barrett esophagus/esophageal adenocarcinoma" MONDO:0013662 oboInOwl:hasExactSynonym "cello" MONDO:0013662 oboInOwl:hasExactSynonym "columnar epithelial-lined Lower esophagus" MONDO:0013662 oboInOwl:hasExactSynonym "Barrett's esophagus with esophagitis" @@ -122430,6 +123319,7 @@ MONDO:0008654 oboInOwl:hasExactSynonym "NYS4" http://purl.obolibrary.org/obo/mon MONDO:0014895 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 40; EIEE40" MONDO:0014895 oboInOwl:hasExactSynonym "EIEE40" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014895 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in GUF1" +MONDO:0014895 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 40" MONDO:0014895 oboInOwl:hasExactSynonym "DEE40" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014895 oboInOwl:hasExactSynonym "GUF1 early infantile epileptic encephalopathy" MONDO:0014895 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 40" @@ -122486,6 +123376,7 @@ MONDO:0010333 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndr MONDO:0010333 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic 28" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010333 oboInOwl:hasExactSynonym "MRXS28" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010333 oboInOwl:hasExactSynonym "corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia" +MONDO:0010333 oboInOwl:hasExactSynonym "corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive" MONDO:0010333 oboInOwl:hasExactSynonym "Graham-Cox syndrome" MONDO:0005644 oboInOwl:hasExactSynonym "amoebiasis" MONDO:0005644 oboInOwl:hasExactSynonym "entamoebiasis" @@ -122535,10 +123426,12 @@ HP:0002683 oboInOwl:hasExactSynonym "Abnormality of calvarium" HP:0002683 oboInOwl:hasExactSynonym "Abnormality of cranial vault" MONDO:0007331 oboInOwl:hasExactSynonym "cleft chin" GO:0003353 oboInOwl:hasExactSynonym "positive regulation of microtubule-based flagellum movement" +MONDO:0020738 oboInOwl:hasExactSynonym "symmetric circumferential skin creases, congenital, 1" MONDO:0011619 oboInOwl:hasExactSynonym "crumpled helices and small mouth" MONDO:0014370 oboInOwl:hasExactSynonym "pontocerebellar hypoplasia type 2E" MONDO:0014370 oboInOwl:hasExactSynonym "VPS53 non-syndromic pontocerebellar hypoplasia" MONDO:0014370 oboInOwl:hasExactSynonym "non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53" +MONDO:0010730 oboInOwl:hasExactSynonym "combined immunodeficiency, X-linked, moderate, X-linked recessive" MONDO:0010730 oboInOwl:hasExactSynonym "combined immunodeficiency, X-linked" MONDO:0013953 oboInOwl:hasExactSynonym "immunodeficiency type 28" MONDO:0013953 oboInOwl:hasExactSynonym "IFNGR2 primary immunodeficiency disease" @@ -122547,6 +123440,7 @@ MONDO:0013953 oboInOwl:hasExactSynonym "primary immunodeficiency disease caused MONDO:0000369 oboInOwl:hasExactSynonym "tuberculosis of abdomen" MONDO:0012495 oboInOwl:hasExactSynonym "SEMDG" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012495 oboInOwl:hasExactSynonym "SEMD, Geneviève type" +MONDO:0012495 oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia, Camera-Genevieve type" MONDO:0012495 oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia, Genevieve type" MONDO:0045056 oboInOwl:hasExactSynonym "WHO grade II meningioma" MONDO:0045056 oboInOwl:hasExactSynonym "grade 2 meningioma" @@ -122590,6 +123484,7 @@ MONDO:0004327 oboInOwl:hasExactSynonym "sphenoid sinus Schneiderian papilloma" MONDO:0009015 oboInOwl:hasExactSynonym "CDPD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009015 oboInOwl:hasExactSynonym "Harboyan syndrome" MONDO:0009015 oboInOwl:hasExactSynonym "corneal dystrophy with progressive deafness" +MONDO:0009015 oboInOwl:hasExactSynonym "corneal endothelial dystrophy and perceptive deafness" MONDO:0011418 oboInOwl:hasExactSynonym "DYX3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011418 oboInOwl:hasExactSynonym "dyslexia, susceptibility to, 3" MONDO:0024686 oboInOwl:hasExactSynonym "diffuse tenosynovial giant cell neoplasm" @@ -122709,6 +123604,7 @@ MONDO:0024465 oboInOwl:hasExactSynonym "pulmonary alveolar proteinosis, congenit MONDO:0024465 oboInOwl:hasExactSynonym "interstitial lung disease due to surfactant Protein C deficiency" MONDO:0007995 oboInOwl:hasExactSynonym "MCOPCT1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007995 oboInOwl:hasExactSynonym "microphthalmia, isolated, with cataract 1" +MONDO:0009509 oboInOwl:hasExactSynonym "epilepsy, focal, with speech disorder and with or without impaired intellectual development" MONDO:0009509 oboInOwl:hasExactSynonym "acquired epileptic aphasia" MONDO:0009509 oboInOwl:hasExactSynonym "LKS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009509 oboInOwl:hasExactSynonym "Landau-Kleffner syndrome" @@ -122817,6 +123713,7 @@ MONDO:0021010 oboInOwl:hasExactSynonym "skin lymphangiosarcoma" MONDO:0021010 oboInOwl:hasExactSynonym "lymphangiosarcoma of Stewart and Treves" MONDO:0021010 oboInOwl:hasExactSynonym "lymphangiosarcoma of skin" MONDO:0021010 oboInOwl:hasExactSynonym "lymphangiosarcoma of the skin" +MONDO:0008592 oboInOwl:hasExactSynonym "trichodontoosseous syndrome" MONDO:0008592 oboInOwl:hasExactSynonym "TDO syndrome" ENVO:01000323 oboInOwl:hasExactSynonym "planetary boundary layer" GO:0030964 oboInOwl:hasExactSynonym "Complex I" @@ -122829,6 +123726,7 @@ MONDO:0008811 oboInOwl:hasExactSynonym "atelencephaly" MONDO:0010006 oboInOwl:hasExactSynonym "GM2 gangliosidosis 0 variant" MONDO:0010006 oboInOwl:hasExactSynonym "Sandhoff Jatzkewitz disease" MONDO:0010006 oboInOwl:hasExactSynonym "Sandhoff disease" +MONDO:0010006 oboInOwl:hasExactSynonym "Sandhoff disease, infantile, juvenile, and adult forms" MONDO:0010006 oboInOwl:hasExactSynonym "Hexosaminidases A and B deficiency" MONDO:0000077 oboInOwl:hasExactSynonym "obsolete nystagmus (disease)" MONDO:0008070 oboInOwl:hasExactSynonym "nemaline myopathy caused by mutation in ACTA1" @@ -122853,6 +123751,7 @@ GO:0006520 oboInOwl:hasExactSynonym "amino acid and derivative metabolism" GO:0006520 oboInOwl:hasExactSynonym "cellular amino acid and derivative metabolic process" GO:0006520 oboInOwl:hasExactSynonym "amino acid metabolic process" GO:0006520 oboInOwl:hasExactSynonym "cellular amino acid metabolism" +MONDO:0012135 oboInOwl:hasExactSynonym "restless legs syndrome 2" MONDO:0012135 oboInOwl:hasExactSynonym "restless legs syndrome, susceptibility to, 2" MONDO:0012135 oboInOwl:hasExactSynonym "RLS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011579 oboInOwl:hasExactSynonym "autosomal dominant late-onset retinal degeneration" @@ -122937,14 +123836,14 @@ GO:1905747 oboInOwl:hasExactSynonym "downregulation of saliva secretion" MONDO:0005027 oboInOwl:hasExactSynonym "seizure disorder" MONDO:0005027 oboInOwl:hasExactSynonym "epilepsy" MONDO:0006585 oboInOwl:hasExactSynonym "lichen simplex Chronicus" +MONDO:0037746 oboInOwl:hasExactSynonym "malignant vaginal mixed epithelial and mesenchymal neoplasm" +MONDO:0037746 oboInOwl:hasExactSynonym "malignant vaginal mixed epithelial and mesenchymal tumor" MONDO:0009395 oboInOwl:hasExactSynonym "van Buchem disease" MONDO:0009395 oboInOwl:hasExactSynonym "hyperphosphatasemia tarda" MONDO:0009395 oboInOwl:hasExactSynonym "Van Buchem disease" MONDO:0009395 oboInOwl:hasExactSynonym "endosteal hyperostosis" MONDO:0009395 oboInOwl:hasExactSynonym "van Buchem disease type 1" MONDO:0009395 oboInOwl:hasExactSynonym "hyperostosis corticalis generalisata" -MONDO:0037746 oboInOwl:hasExactSynonym "malignant vaginal mixed epithelial and mesenchymal neoplasm" -MONDO:0037746 oboInOwl:hasExactSynonym "malignant vaginal mixed epithelial and mesenchymal tumor" MONDO:0015991 oboInOwl:hasExactSynonym "deficiency of citrulline-aspartate ligase" MONDO:0017218 oboInOwl:hasExactSynonym "Septopreoptic HPE" MONDO:0009961 oboInOwl:hasExactSynonym "renal and mullerian duct hypoplasia" @@ -122995,6 +123894,7 @@ GO:0050669 oboInOwl:hasExactSynonym "negative regulation of Hcy metabolism" GO:0050669 oboInOwl:hasExactSynonym "downregulation of homocysteine metabolic process" GO:0050669 oboInOwl:hasExactSynonym "negative regulation of homocysteine metabolism" GO:0050669 oboInOwl:hasExactSynonym "down regulation of homocysteine metabolic process" +MONDO:0007635 oboInOwl:hasExactSynonym "Frasier syndrome, autosomal dominant, somatic mutation" MONDO:0007635 oboInOwl:hasExactSynonym "Frasier syndrome" ECTO:0000557 oboInOwl:hasExactSynonym "exposure to inhibitor" CL:0000936 oboInOwl:hasExactSynonym "ELP" @@ -123009,6 +123909,7 @@ MONDO:0004697 oboInOwl:hasExactSynonym "esophageal leukoplakia (disease)" MONDO:0004697 oboInOwl:hasExactSynonym "esophageal epidermoid metaplasia" MONDO:0009206 oboInOwl:hasExactSynonym "factor V and factor VIII, combined deficiency of, type 1" MONDO:0009206 oboInOwl:hasExactSynonym "combined deficiency of factor V and factor VIII caused by mutation in LMAN1" +MONDO:0009206 oboInOwl:hasExactSynonym "combined factor V and VIII deficiency" MONDO:0009206 oboInOwl:hasExactSynonym "LMAN1 combined deficiency of factor V and factor VIII" MONDO:0009206 oboInOwl:hasExactSynonym "factor 5 and Factor VIII, combined deficiency of, 1" MONDO:0011471 oboInOwl:hasExactSynonym "inflammatory bowel disease 3" @@ -123028,10 +123929,10 @@ MONDO:0014870 oboInOwl:hasExactSynonym "lethal congenital contracture syndrome 1 MONDO:0019494 oboInOwl:hasExactSynonym "heart tumor of child" MONDO:0019494 oboInOwl:hasExactSynonym "pediatric heart neoplasm" MONDO:0019494 oboInOwl:hasExactSynonym "Cardiac tumor of child" -MONDO:0019147 oboInOwl:hasExactSynonym "myiasis, unspecified" -MONDO:0019147 oboInOwl:hasExactSynonym "infestation by maggots" MONDO:0019147 oboInOwl:hasExactSynonym "infestation by fly larvae" MONDO:0019147 oboInOwl:hasExactSynonym "maggot infestation" +MONDO:0019147 oboInOwl:hasExactSynonym "myiasis, unspecified" +MONDO:0019147 oboInOwl:hasExactSynonym "infestation by maggots" MONDO:0006188 oboInOwl:hasExactSynonym "EBV-positive T-cell lymphoproliferative disease of childhood" MONDO:0006188 oboInOwl:hasExactSynonym "EBV-positive T-cell lymphoproliferative disorder of childhood" MONDO:0021674 oboInOwl:hasExactSynonym "sequela of viral disease" @@ -123059,12 +123960,14 @@ GO:0031301 oboInOwl:hasExactSynonym "integral to organelle membrane" MONDO:0013056 oboInOwl:hasExactSynonym "mitochondrial aspartate-glutamate carrier 1 deficiency" MONDO:0013056 oboInOwl:hasExactSynonym "DEE39" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013056 oboInOwl:hasExactSynonym "AGC1 deficiency" +MONDO:0013056 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 39" MONDO:0013056 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in SLC25A12" MONDO:0013056 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 39" MONDO:0013056 oboInOwl:hasExactSynonym "EIEE39" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013056 oboInOwl:hasExactSynonym "epileptic encephalopathy with global cerebral demyelination" MONDO:0013056 oboInOwl:hasExactSynonym "SLC25A12 early infantile epileptic encephalopathy" MONDO:0012300 oboInOwl:hasExactSynonym "prostate cancer, hereditary, type 6" +MONDO:0012300 oboInOwl:hasExactSynonym "prostate cancer, susceptibility to" MONDO:0012300 oboInOwl:hasExactSynonym "prostate cancer, hereditary, 6" MONDO:0011744 oboInOwl:hasExactSynonym "osseous venous malformation" MONDO:0011744 oboInOwl:hasExactSynonym "intraosseous hemangioma" @@ -123099,6 +124002,7 @@ GO:0046580 oboInOwl:hasExactSynonym "downregulation of Ras protein signal transd GO:0046580 oboInOwl:hasExactSynonym "down-regulation of Ras protein signal transduction" MONDO:0021895 oboInOwl:hasExactSynonym "temporomandibular joint dysfunction syndrome" MONDO:0010342 oboInOwl:hasExactSynonym "autism, susceptibility to, X-linked 3" +MONDO:0010342 oboInOwl:hasExactSynonym "autism susceptibility, X-linked 3" MONDO:0010342 oboInOwl:hasExactSynonym "autism, susceptibility to, X-linked type 3" MONDO:0014497 oboInOwl:hasExactSynonym "polyendocrine-polyneuropathy syndrome" HP:0002840 oboInOwl:hasExactSynonym "Inflammation of the lymph nodes" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -123109,10 +124013,10 @@ MONDO:0019880 oboInOwl:hasExactSynonym "distal trisomy type 5q" MONDO:0019880 oboInOwl:hasExactSynonym "telomeric duplication 5q" MONDO:0019880 oboInOwl:hasExactSynonym "distal duplication 5q" MONDO:0019880 oboInOwl:hasExactSynonym "trisomy 5qter" -MONDO:0015908 oboInOwl:hasExactSynonym "Chromomycosis" -MONDO:0015908 oboInOwl:hasExactSynonym "chromoblastomycosis" MONDO:0015908 oboInOwl:hasExactSynonym "mossy foot disease" MONDO:0015908 oboInOwl:hasExactSynonym "chromomycosis" +MONDO:0015908 oboInOwl:hasExactSynonym "chromoblastomycosis" +MONDO:0015908 oboInOwl:hasExactSynonym "Chromomycosis" MONDO:0004289 oboInOwl:hasExactSynonym "glottis verrucous carcinoma" MONDO:0004289 oboInOwl:hasExactSynonym "glottic verrucous carcinoma" MONDO:0004289 oboInOwl:hasExactSynonym "verrucous carcinoma of glottis" @@ -123123,6 +124027,7 @@ MONDO:0018683 oboInOwl:hasExactSynonym "ichthyosis acquisita" MONDO:0009564 oboInOwl:hasExactSynonym "Marden-Walker syndrome" MONDO:0008794 oboInOwl:hasExactSynonym "anhidrosis, familial generalized, with abnormal or absent sweat glands" MONDO:0014119 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 36" +MONDO:0014119 oboInOwl:hasExactSynonym "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies" MONDO:0014119 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 36" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0008062 oboInOwl:hasExactSynonym "HCRT narcolepsy" MONDO:0008062 oboInOwl:hasExactSynonym "narcolepsy caused by mutation in HCRT" @@ -123145,6 +124050,7 @@ MONDO:0008876 oboInOwl:hasExactSynonym "Bloom-Torre-Machacek syndrome" MONDO:0008876 oboInOwl:hasExactSynonym "Bloom syndrome" MONDO:0008876 oboInOwl:hasExactSynonym "BSyn" MONDO:0008876 oboInOwl:hasExactSynonym "congenital telangiectatic erythema syndrome" +MONDO:0014505 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 27" MONDO:0014505 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 27" MONDO:0014505 oboInOwl:hasExactSynonym "GRIN2B early infantile epileptic encephalopathy" MONDO:0014505 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in GRIN2B" @@ -123225,6 +124131,7 @@ MONDO:0100126 oboInOwl:hasExactSynonym "delta1-pyrroline-5-carboxylate synthetas MONDO:0100126 oboInOwl:hasExactSynonym "P5CS deficiency" MONDO:0030953 oboInOwl:hasExactSynonym "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" MONDO:0030953 oboInOwl:hasExactSynonym "SSFSC2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0030953 oboInOwl:hasExactSynonym "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" MONDO:0010121 oboInOwl:hasExactSynonym "TAR syndrome" MONDO:0010121 oboInOwl:hasExactSynonym "thrombocytopenia-absent radius syndrome" MONDO:0010121 oboInOwl:hasExactSynonym "radial aplasia-thrombocytopenia syndrome" @@ -123304,6 +124211,7 @@ MONDO:0001195 oboInOwl:hasExactSynonym "spotted fever rickettsiosis" MONDO:0001195 oboInOwl:hasExactSynonym "spotted fever rickettsiae disease" MONDO:0012261 oboInOwl:hasExactSynonym "autism, susceptibility to, 6" MONDO:0012261 oboInOwl:hasExactSynonym "AUTS6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012261 oboInOwl:hasExactSynonym "autism susceptibility 6" MONDO:0019730 oboInOwl:hasExactSynonym "Light chain disease" MONDO:0019730 oboInOwl:hasExactSynonym "LCDD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019730 oboInOwl:hasExactSynonym "Light chain gammopathy" @@ -123341,13 +124249,13 @@ MONDO:0001499 oboInOwl:hasExactSynonym "primary retroperitoneal lymphoma" MONDO:0001499 oboInOwl:hasExactSynonym "retroperitoneal lymphoma" MONDO:0001499 oboInOwl:hasExactSynonym "lymphoma of retroperitoneal space" MONDO:0001499 oboInOwl:hasExactSynonym "retroperitoneal space lymphoma" +MONDO:0014507 oboInOwl:hasExactSynonym "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" +MONDO:0014507 oboInOwl:hasExactSynonym "micrognathia digital syndrome" MONDO:0014507 oboInOwl:hasExactSynonym "Palatodigital syndrome, Catel-Manzke type" +MONDO:0014507 oboInOwl:hasExactSynonym "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome" MONDO:0014507 oboInOwl:hasExactSynonym "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome" -MONDO:0014507 oboInOwl:hasExactSynonym "micrognathia digital syndrome" MONDO:0014507 oboInOwl:hasExactSynonym "index finger anomaly-Pierre Robin syndrome" -MONDO:0014507 oboInOwl:hasExactSynonym "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" MONDO:0014507 oboInOwl:hasExactSynonym "Catel-Manzke syndrome" -MONDO:0014507 oboInOwl:hasExactSynonym "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome" MONDO:0003211 oboInOwl:hasExactSynonym "adenocarcinoma of nasal cavity" MONDO:0003211 oboInOwl:hasExactSynonym "adenocarcinoma of the nasal cavity" MONDO:0003211 oboInOwl:hasExactSynonym "nasal cavity adenocarcinoma" @@ -123358,8 +124266,9 @@ MONDO:0016691 oboInOwl:hasExactSynonym "Piloid astrocytoma" MONDO:0016691 oboInOwl:hasExactSynonym "grade I astrocytic neoplasm" MONDO:0016691 oboInOwl:hasExactSynonym "astrocytoma, benign" MONDO:0016691 oboInOwl:hasExactSynonym "astrocytoma, pilocytic, benign" -MONDO:0009072 oboInOwl:hasExactSynonym "Dandy-Walker syndrome" +MONDO:0009072 oboInOwl:hasExactSynonym "Dandy-Walker syndrome, Isolated cases" MONDO:0009072 oboInOwl:hasExactSynonym "atresia of foramina of Magendie and Luschka" +MONDO:0009072 oboInOwl:hasExactSynonym "Dandy-Walker syndrome" MONDO:0006728 oboInOwl:hasExactSynonym "inflammation of intervertebral disk" MONDO:0006728 oboInOwl:hasExactSynonym "intervertebral disk inflammation" MONDO:0008655 oboInOwl:hasExactSynonym "vestibulocochlear dysfunction, progressive" @@ -123410,10 +124319,10 @@ MONDO:0004699 oboInOwl:hasExactSynonym "gastrointestinal lymphoma" MONDO:0004699 oboInOwl:hasExactSynonym "digestive system lymphoma" MONDO:0004699 oboInOwl:hasExactSynonym "lymphoma of digestive system" MONDO:0004699 oboInOwl:hasExactSynonym "primary digestive system lymphoma" -MONDO:0005645 oboInOwl:hasExactSynonym "hookworm infection" +MONDO:0005645 oboInOwl:hasExactSynonym "Ancylostoma disease or disorder" MONDO:0005645 oboInOwl:hasExactSynonym "Ancylostoma caused disease or disorder" MONDO:0005645 oboInOwl:hasExactSynonym "Ancylostoma infectious disease" -MONDO:0005645 oboInOwl:hasExactSynonym "Ancylostoma disease or disorder" +MONDO:0005645 oboInOwl:hasExactSynonym "hookworm infection" GO:0045779 oboInOwl:hasExactSynonym "down regulation of bone resorption" GO:0045779 oboInOwl:hasExactSynonym "down-regulation of bone resorption" GO:0045779 oboInOwl:hasExactSynonym "downregulation of bone resorption" @@ -123424,6 +124333,7 @@ MONDO:0009387 oboInOwl:hasExactSynonym "Fredrickson type I hyperlipoproteinemia" MONDO:0009387 oboInOwl:hasExactSynonym "Fredrickson type I lipaemia" MONDO:0009387 oboInOwl:hasExactSynonym "hypercholesterinaemic xanthomatosis" MONDO:0009387 oboInOwl:hasExactSynonym "hyperlipoproteinemia type I" +MONDO:0009387 oboInOwl:hasExactSynonym "high density lipoprotein cholesterol level QTL 11" MONDO:0009387 oboInOwl:hasExactSynonym "familial chylomiconemia syndrome" MONDO:0009387 oboInOwl:hasExactSynonym "familial lipoprotein lipase deficiency (disorder) [ambiguous]" MONDO:0009387 oboInOwl:hasExactSynonym "LPL deficiency" @@ -123472,11 +124382,13 @@ MONDO:0013767 oboInOwl:hasExactSynonym "autoimmune lymphoproliferative syndrome MONDO:0013767 oboInOwl:hasExactSynonym "autoimmune lymphoproliferative syndrome caused by mutation in NRAS" MONDO:0013767 oboInOwl:hasExactSynonym "RAS-associated autoimmune leukoproliferative disorder" MONDO:0013767 oboInOwl:hasExactSynonym "ALPS type IV" +MONDO:0013767 oboInOwl:hasExactSynonym "RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic" MONDO:0013767 oboInOwl:hasExactSynonym "RAS-associated autoimmune leukoproliferative disease" MONDO:0013767 oboInOwl:hasExactSynonym "RALD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013767 oboInOwl:hasExactSynonym "ALPS type 4" MONDO:0013767 oboInOwl:hasExactSynonym "ALPS4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013767 oboInOwl:hasExactSynonym "NRAS autoimmune lymphoproliferative syndrome" +MONDO:0012513 oboInOwl:hasExactSynonym "maturity-onset diabetes of the young, type VII" MONDO:0012513 oboInOwl:hasExactSynonym "KLF11 maturity-onset diabetes of the young (disease)" MONDO:0012513 oboInOwl:hasExactSynonym "MODY7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012513 oboInOwl:hasExactSynonym "maturity-onset diabetes of the young (disease) caused by mutation in KLF11" @@ -123505,6 +124417,7 @@ MONDO:0005561 oboInOwl:hasExactSynonym "disease of aorta" MONDO:0005561 oboInOwl:hasExactSynonym "aortic disorder" MONDO:0006203 oboInOwl:hasExactSynonym "extrahepatic bile duct squamous cell carcinoma" MONDO:0014371 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 23" +MONDO:0014371 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 23" MONDO:0014371 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy, 23" MONDO:0014371 oboInOwl:hasExactSynonym "DEE18" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014371 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 23" @@ -123521,6 +124434,7 @@ MONDO:0010731 oboInOwl:hasExactSynonym "Golabi-Rosen syndrome" MONDO:0010731 oboInOwl:hasExactSynonym "SGBS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013954 oboInOwl:hasExactSynonym "MSMD due to complete interleukin 12B deficiency" MONDO:0013954 oboInOwl:hasExactSynonym "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B" +MONDO:0013954 oboInOwl:hasExactSynonym "immunodeficiency 29, mycobacteriosis" MONDO:0013954 oboInOwl:hasExactSynonym "MSMD due to complete IL12B deficiency" MONDO:0013954 oboInOwl:hasExactSynonym "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency" MONDO:0013954 oboInOwl:hasExactSynonym "immunodeficiency type 29" @@ -123572,9 +124486,11 @@ HP:0100022 oboInOwl:hasExactSynonym "Movement disorder" http://purl.obolibrary.o GO:0046676 oboInOwl:hasExactSynonym "downregulation of insulin secretion" GO:0046676 oboInOwl:hasExactSynonym "down regulation of insulin secretion" GO:0046676 oboInOwl:hasExactSynonym "down-regulation of insulin secretion" +MONDO:0011996 oboInOwl:hasExactSynonym "leukemia, chronic myeloid, Philadelphia chromosome positive, somatic" MONDO:0011996 oboInOwl:hasExactSynonym "CML" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011996 oboInOwl:hasExactSynonym "CML - chronic myelogenous leukemia" MONDO:0011996 oboInOwl:hasExactSynonym "myeloid leukemia, chronic" +MONDO:0011996 oboInOwl:hasExactSynonym "leukemia, Philadelphia chromosome-positive, resistant to imatinib, Somatic mutation" MONDO:0011996 oboInOwl:hasExactSynonym "chronic granulocytic leukemia" MONDO:0011996 oboInOwl:hasExactSynonym "chronic myelogenous leukemias" MONDO:0011996 oboInOwl:hasExactSynonym "BCR-ABL Positive chronic myelogenous leukemia" @@ -123618,6 +124534,7 @@ MONDO:0015740 oboInOwl:hasExactSynonym "Duplication 18p" MONDO:0015740 oboInOwl:hasExactSynonym "trisomy of the short arm of chromosome 18" MONDO:0011419 oboInOwl:hasExactSynonym "camera-Marugo-Cohen syndrome" MONDO:0020790 oboInOwl:hasExactSynonym "HGPPS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020790 oboInOwl:hasExactSynonym "gaze palsy, familial horizontal, with progressive scoliosis, 1" MONDO:0020790 oboInOwl:hasExactSynonym "HGPPS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020790 oboInOwl:hasExactSynonym "gaze palsy, familial horizontal, with progressive scoliosis 1" MONDO:0006507 oboInOwl:hasExactSynonym "iron storage disorder" @@ -123657,6 +124574,7 @@ MONDO:0011588 oboInOwl:hasExactSynonym "platelet COX1 deficiency" MONDO:0011588 oboInOwl:hasExactSynonym "platelet cyclooxygenase 1 deficiency" MONDO:0011588 oboInOwl:hasExactSynonym "PGHS1 deficiency" MONDO:0011588 oboInOwl:hasExactSynonym "platelet prostaglandin-endoperoxide synthase 1 deficiency" +MONDO:0010334 oboInOwl:hasExactSynonym "deafness, dystonia, and cerebral hypomyelination, X-linked recessive" OBA:1001084 oboInOwl:hasExactSynonym "osmolality of feces" MONDO:0014150 oboInOwl:hasExactSynonym "childhood onset epileptic encephalopathy" MONDO:0014150 oboInOwl:hasExactSynonym "DEE94" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -123705,13 +124623,6 @@ MONDO:0004736 oboInOwl:hasExactSynonym "rare inborn error of cellular amino acid MONDO:0004736 oboInOwl:hasExactSynonym "inborn cellular amino acid metabolic process disorder" MONDO:0004736 oboInOwl:hasExactSynonym "inborn error of amino acid metabolism" MONDO:0004736 oboInOwl:hasExactSynonym "inborn error of cellular amino acid metabolic process" -GO:0045944 oboInOwl:hasExactSynonym "stimulation of transcription from RNA polymerase II promoter" -GO:0045944 oboInOwl:hasExactSynonym "up regulation of transcription from RNA polymerase II promoter" -GO:0045944 oboInOwl:hasExactSynonym "activation of transcription from RNA polymerase II promoter" -GO:0045944 oboInOwl:hasExactSynonym "upregulation of transcription from RNA polymerase II promoter" -GO:0045944 oboInOwl:hasExactSynonym "positive regulation of transcription from Pol II promoter" -GO:0045944 oboInOwl:hasExactSynonym "up-regulation of transcription from RNA polymerase II promoter" -GO:0045944 oboInOwl:hasExactSynonym "positive regulation of transcription from RNA polymerase II promoter" MONDO:0005810 oboInOwl:hasExactSynonym "monocytic angina" MONDO:0005810 oboInOwl:hasExactSynonym "Filatov's disease" MONDO:0005810 oboInOwl:hasExactSynonym "mononucleosis" @@ -123719,13 +124630,25 @@ MONDO:0005810 oboInOwl:hasExactSynonym "Gammaherpesviral mononucleosis" MONDO:0005810 oboInOwl:hasExactSynonym "Mono" MONDO:0005810 oboInOwl:hasExactSynonym "Pfeiffer's disease" MONDO:0005810 oboInOwl:hasExactSynonym "glandular fever" +GO:0045944 oboInOwl:hasExactSynonym "stimulation of transcription from RNA polymerase II promoter" +GO:0045944 oboInOwl:hasExactSynonym "up regulation of transcription from RNA polymerase II promoter" +GO:0045944 oboInOwl:hasExactSynonym "activation of transcription from RNA polymerase II promoter" +GO:0045944 oboInOwl:hasExactSynonym "upregulation of transcription from RNA polymerase II promoter" +GO:0045944 oboInOwl:hasExactSynonym "positive regulation of transcription from Pol II promoter" +GO:0045944 oboInOwl:hasExactSynonym "up-regulation of transcription from RNA polymerase II promoter" +GO:0045944 oboInOwl:hasExactSynonym "positive regulation of transcription from RNA polymerase II promoter" MONDO:0007996 oboInOwl:hasExactSynonym "microphthalmia, isolated, with corectopia" MONDO:0012192 oboInOwl:hasExactSynonym "pancreatic and cerebellar agenesis" -MONDO:0011775 oboInOwl:hasExactSynonym "TP53 nasopharyngeal carcinoma" +MONDO:0011775 oboInOwl:hasExactSynonym "nasopharyngeal carcinoma, somatic" MONDO:0011775 oboInOwl:hasExactSynonym "nasopharyngeal carcinoma caused by mutation in TP53" +MONDO:0011775 oboInOwl:hasExactSynonym "nasopharyngeal carcinoma 1" MONDO:0011775 oboInOwl:hasExactSynonym "nasopharyngeal carcinoma, susceptibility to, 1" +MONDO:0011775 oboInOwl:hasExactSynonym "TP53 nasopharyngeal carcinoma" MONDO:0032766 oboInOwl:hasExactSynonym "HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2" +MONDO:0032766 oboInOwl:hasExactSynonym "hypoalphalipoproteinemia, primary, 2, with or without corneal clouding" +MONDO:0032766 oboInOwl:hasExactSynonym "ApoA-I and apoC-III deficiency, combined" MONDO:0013369 oboInOwl:hasExactSynonym "CMH7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013369 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 7" MONDO:0013369 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy 7" MONDO:0013369 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, type 7" MONDO:0013369 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy caused by mutation in TNNI3" @@ -123737,6 +124660,7 @@ MONDO:0009760 oboInOwl:hasExactSynonym "lissencephaly type 2" MONDO:0009760 oboInOwl:hasExactSynonym "lissencephaly syndrome, Norman-Roberts type" MONDO:0009760 oboInOwl:hasExactSynonym "lissencephaly 2" MONDO:0009760 oboInOwl:hasExactSynonym "Microlissencephaly type A" +MONDO:0009760 oboInOwl:hasExactSynonym "lissencephaly 2 (Norman-Roberts type)" MONDO:0400006 oboInOwl:hasExactSynonym "bacterial pseudomycosis" MONDO:0400006 oboInOwl:hasExactSynonym "pyoderma vegetans" MONDO:0005340 oboInOwl:hasExactSynonym "alopecia areata" @@ -123842,7 +124766,6 @@ MONDO:0006373 oboInOwl:hasExactSynonym "adenoma of pituitary gland" MONDO:0006373 oboInOwl:hasExactSynonym "adenoma of the pituitary" MONDO:0006373 oboInOwl:hasExactSynonym "adenoma of the pituitary gland" MONDO:0006373 oboInOwl:hasExactSynonym "pituitary adenoma" -MONDO:0006026 oboInOwl:hasExactSynonym "disease of urinary bladder" MONDO:0006026 oboInOwl:hasExactSynonym "bladder disorder" MONDO:0006026 oboInOwl:hasExactSynonym "bladder disease" MONDO:0006026 oboInOwl:hasExactSynonym "urinary bladder disease" @@ -123850,6 +124773,7 @@ MONDO:0006026 oboInOwl:hasExactSynonym "urinary bladder disease or disorder" MONDO:0006026 oboInOwl:hasExactSynonym "disorder of urinary bladder" MONDO:0006026 oboInOwl:hasExactSynonym "urinary bladder disorder" MONDO:0006026 oboInOwl:hasExactSynonym "disease or disorder of urinary bladder" +MONDO:0006026 oboInOwl:hasExactSynonym "disease of urinary bladder" NCBITaxon:6843 oboInOwl:hasExactSynonym "chelicerates" http://purl.obolibrary.org/obo/ncbitaxon#common_name MONDO:0018525 oboInOwl:hasExactSynonym "solid pseudopapillary carcinoma of pancreas" MONDO:0018525 oboInOwl:hasExactSynonym "solid pseudopapillary neoplasm of the pancreas" @@ -123866,6 +124790,7 @@ MONDO:0009402 oboInOwl:hasExactSynonym "acrofrontofacionasal syndrome type 2" MONDO:0009402 oboInOwl:hasExactSynonym "acrofrontofacionasal dysostosis 2" MONDO:0009402 oboInOwl:hasExactSynonym "hypertelorism-hypospadias-polysyndactyly syndrome" MONDO:0013065 oboInOwl:hasExactSynonym "premature ovarian failure 7" +MONDO:0013065 oboInOwl:hasExactSynonym "adrenocortical insufficiency" MONDO:0013065 oboInOwl:hasExactSynonym "premature ovarian failure type 7" MONDO:0013065 oboInOwl:hasExactSynonym "NR5A1 primary ovarian failure" MONDO:0013065 oboInOwl:hasExactSynonym "primary ovarian failure caused by mutation in NR5A1" @@ -123878,6 +124803,7 @@ MONDO:0014011 oboInOwl:hasExactSynonym "ARCI10" http://purl.obolibrary.org/obo/m MONDO:0017787 oboInOwl:hasExactSynonym "Leiner disease" MONDO:0018861 oboInOwl:hasExactSynonym "AHN-Lerman-Sagie syndrome" GO:0006521 oboInOwl:hasExactSynonym "regulation of amino acid metabolism" +MONDO:0032768 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 76" MONDO:0032768 oboInOwl:hasExactSynonym "DEE76" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032768 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 76" MONDO:0032768 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76" @@ -123888,13 +124814,19 @@ MONDO:0003570 oboInOwl:hasExactSynonym "lipid-rich carcinoma (morphologic abnorm MONDO:0004901 oboInOwl:hasExactSynonym "oro-facial dyskinesia" MONDO:0013252 oboInOwl:hasExactSynonym "Warsaw breakage syndrome" MONDO:0013252 oboInOwl:hasExactSynonym "WABS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032605 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 66" +MONDO:0011940 oboInOwl:hasExactSynonym "tuberculosis, susceptibility to" MONDO:0011940 oboInOwl:hasExactSynonym "mycobacterium tuberculosis, susceptibility to" +MONDO:0011940 oboInOwl:hasExactSynonym "tuberculosis infection, protection against" +MONDO:0011940 oboInOwl:hasExactSynonym "tuberculosis, protection against" MONDO:0010178 oboInOwl:hasExactSynonym "vas deferens, congenital bilateral aplasia of" MONDO:0010178 oboInOwl:hasExactSynonym "congenital bilateral aplasia of the vas deferens" +MONDO:0010178 oboInOwl:hasExactSynonym "congenital bilateral absence of vas deferens" MONDO:0010007 oboInOwl:hasExactSynonym "Richieri Costa-Guion Almeida-Ramos syndrome" MONDO:0005318 oboInOwl:hasExactSynonym "aphthous ulcer" MONDO:0005318 oboInOwl:hasExactSynonym "canker sore" MONDO:0029132 oboInOwl:hasExactSynonym "Liddle syndrome 3" +MONDO:0008071 oboInOwl:hasExactSynonym "nephropathy-hypertension" CL:1000277 oboInOwl:hasExactSynonym "non-striated muscle fiber of jejunum" MONDO:0019052 oboInOwl:hasExactSynonym "inborn disorders of metabolism" MONDO:0019052 oboInOwl:hasExactSynonym "inborn error of metabolism" @@ -123940,6 +124872,7 @@ MONDO:0021232 oboInOwl:hasExactSynonym "neoplasm of pineal body" GO:0008284 oboInOwl:hasExactSynonym "up-regulation of cell proliferation" GO:0008284 oboInOwl:hasExactSynonym "upregulation of cell proliferation" GO:0008284 oboInOwl:hasExactSynonym "up regulation of cell proliferation" +MONDO:0012522 oboInOwl:hasExactSynonym "diabetes mellitus, transient neonatal 3" MONDO:0012522 oboInOwl:hasExactSynonym "diabetes mellitus, transient neonatal, type 3" MONDO:0012522 oboInOwl:hasExactSynonym "KCNJ11 transient neonatal diabetes mellitus (disease)" MONDO:0012522 oboInOwl:hasExactSynonym "diabetes mellitus, transient neonatal, 3" @@ -123988,6 +124921,7 @@ MONDO:0037747 oboInOwl:hasExactSynonym "injury of vertebral column" MONDO:0037747 oboInOwl:hasExactSynonym "vertebral column injury" MONDO:0030054 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 86" MONDO:0030054 oboInOwl:hasExactSynonym "EIEE86" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0030054 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 86" MONDO:0030054 oboInOwl:hasExactSynonym "DEE86" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030054 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86" MONDO:0001527 oboInOwl:hasExactSynonym "palsy of conjugate gaze" @@ -123997,6 +124931,7 @@ MONDO:0017219 oboInOwl:hasExactSynonym "HoloprosencC)phalie, minor form" MONDO:0017219 oboInOwl:hasExactSynonym "Microform HPE" MONDO:0017219 oboInOwl:hasExactSynonym "Holoprosencéphalie, minor form" MONDO:0017219 oboInOwl:hasExactSynonym "HPE-L" +MONDO:0009962 oboInOwl:hasExactSynonym "senior-loken syndrome-1" MONDO:0009962 oboInOwl:hasExactSynonym "Senior-Loken syndrome caused by mutation in NPHP1" MONDO:0009962 oboInOwl:hasExactSynonym "NPHP1 Senior-Loken syndrome" MONDO:0009962 oboInOwl:hasExactSynonym "Senior-Loken syndrome type 1" @@ -124040,6 +124975,7 @@ MONDO:0008625 oboInOwl:hasExactSynonym "urate-binding globulin, decrease type 1N MONDO:0016639 oboInOwl:hasExactSynonym "Fried-Goldberg-Mundel syndrome" MONDO:0018839 oboInOwl:hasExactSynonym "acquired schizencephaly" MONDO:0009199 oboInOwl:hasExactSynonym "ethanolaminosis" +MONDO:0021011 oboInOwl:hasExactSynonym "chorea, hereditary benign" MONDO:0021011 oboInOwl:hasExactSynonym "BHC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0021011 oboInOwl:hasExactSynonym "hereditary progressive chorea without dementia" MONDO:0021011 oboInOwl:hasExactSynonym "chorea, benign hereditary" @@ -124071,8 +125007,8 @@ MONDO:0018369 oboInOwl:hasExactSynonym "malignant germ cell teratoma of the ovar MONDO:0018369 oboInOwl:hasExactSynonym "malignant teratoma of the ovary" MONDO:0018369 oboInOwl:hasExactSynonym "malignant ovarian teratoma" MONDO:0000078 oboInOwl:hasExactSynonym "ACPS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009207 oboInOwl:hasExactSynonym "factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor" GO:0070126 oboInOwl:hasExactSynonym "mitochondrial translation termination" +MONDO:0009207 oboInOwl:hasExactSynonym "factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor" MONDO:0013926 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism caused by mutation in WDR11" MONDO:0013926 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 14 with or without anosmia" MONDO:0013926 oboInOwl:hasExactSynonym "WDR11 hypogonadotropic hypogonadism" @@ -124097,6 +125033,7 @@ MONDO:0002107 oboInOwl:hasExactSynonym "hyperactive unilateral labyrinthine dysf MONDO:0002107 oboInOwl:hasExactSynonym "hyperactive labyrinth, unilateral" MONDO:0001391 oboInOwl:hasExactSynonym "indeterminate leprosy [group I]" MONDO:0001391 oboInOwl:hasExactSynonym "uncharacteristic leprosy" +MONDO:0010343 oboInOwl:hasExactSynonym "Asperger syndrome susceptibility, X-linked 2" MONDO:0010343 oboInOwl:hasExactSynonym "Asperger syndrome, X-linked, susceptibility to, 2" MONDO:0010343 oboInOwl:hasExactSynonym "Asperger syndrome, X-linked, susceptibility to, type 2" MONDO:0017808 oboInOwl:hasExactSynonym "DPG-plus syndrome" @@ -124114,6 +125051,7 @@ HP:0011804 oboInOwl:hasExactSynonym "Abnormality of muscle physiology" HP:0011804 oboInOwl:hasExactSynonym "Issue with muscle function" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0018684 oboInOwl:hasExactSynonym "neonatal cardiac dysrhythmia" MONDO:0007131 oboInOwl:hasExactSynonym "anonychia with flexural pigmentation" +MONDO:0013057 oboInOwl:hasExactSynonym "psoriasis susceptibility 12" MONDO:0013057 oboInOwl:hasExactSynonym "PSORS12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013057 oboInOwl:hasExactSynonym "psoriasis 12, susceptibility to" MONDO:0002465 oboInOwl:hasExactSynonym "bronchiolitis" @@ -124132,13 +125070,13 @@ MONDO:0021440 oboInOwl:hasExactSynonym "benign skin neoplasm" NCBITaxon:6685 oboInOwl:hasExactSynonym "penaeid shrimps" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name MONDO:0008163 oboInOwl:hasExactSynonym "OFC syndrome" MONDO:0008163 oboInOwl:hasExactSynonym "Fara-Chlupackova syndrome" -MONDO:0017282 oboInOwl:hasExactSynonym "Echinococcus multilocularis infection" +MONDO:0017282 oboInOwl:hasExactSynonym "Echinococcus multilocularis infectious disease" MONDO:0017282 oboInOwl:hasExactSynonym "Echinococcus multilocularis disease or disorder" MONDO:0017282 oboInOwl:hasExactSynonym "alveolococcosis" -MONDO:0017282 oboInOwl:hasExactSynonym "Echinococcus multilocularis infectious disease" -MONDO:0017282 oboInOwl:hasExactSynonym "multilocular hydatid" -MONDO:0017282 oboInOwl:hasExactSynonym "Echinococcus multilocularis caused disease or disorder" MONDO:0017282 oboInOwl:hasExactSynonym "small fox tapeworm" +MONDO:0017282 oboInOwl:hasExactSynonym "Echinococcus multilocularis caused disease or disorder" +MONDO:0017282 oboInOwl:hasExactSynonym "multilocular hydatid" +MONDO:0017282 oboInOwl:hasExactSynonym "Echinococcus multilocularis infection" MONDO:0001898 oboInOwl:hasExactSynonym "disorder of optic choroid" MONDO:0001898 oboInOwl:hasExactSynonym "optic choroid disease or disorder" MONDO:0001898 oboInOwl:hasExactSynonym "choroid disorder" @@ -124158,6 +125096,7 @@ MONDO:0006586 oboInOwl:hasExactSynonym "dermatitis artefacta" MONDO:0013104 oboInOwl:hasExactSynonym "BCC4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013104 oboInOwl:hasExactSynonym "basal cell carcinoma, susceptibility to, 4" MONDO:0042490 oboInOwl:hasExactSynonym "neutropenia, severe congenital, 1, autosomal dominant" +MONDO:0042490 oboInOwl:hasExactSynonym "neutropenia, severe congenital 1, autosomal dominant" GO:0044255 oboInOwl:hasExactSynonym "cellular lipid metabolism" MONDO:0007638 oboInOwl:hasExactSynonym "fucosidase regulator" MONDO:0022022 oboInOwl:hasExactSynonym "Bowenoid papulosis" @@ -124289,6 +125228,7 @@ MONDO:0010122 oboInOwl:hasExactSynonym "congenital ADAMTS13 deficiency" MONDO:0010122 oboInOwl:hasExactSynonym "Upshaw-Schulman syndrome" MONDO:0010122 oboInOwl:hasExactSynonym "congenital TTP" MONDO:0010122 oboInOwl:hasExactSynonym "congenital ADAMTS-13 deficiency" +MONDO:0010122 oboInOwl:hasExactSynonym "thrombotic thrombocytopenic purpura, hereditary" MONDO:0010122 oboInOwl:hasExactSynonym "congenital thrombotic thrombocytopenic purpura" MONDO:0010122 oboInOwl:hasExactSynonym "familial TTP" MONDO:0011680 oboInOwl:hasExactSynonym "ichthyosis, congenital, autosomal recessive type 3" @@ -124318,6 +125258,7 @@ MONDO:0009073 oboInOwl:hasExactSynonym "Ritscher-Schinzel syndrome 1" MONDO:0009073 oboInOwl:hasExactSynonym "Ritscher-Schinzel syndrome type 1" MONDO:0030503 oboInOwl:hasExactSynonym "PFIC7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007459 oboInOwl:hasExactSynonym "dilution, pigmentary" +MONDO:0100348 oboInOwl:hasExactSynonym "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive" MONDO:0100348 oboInOwl:hasExactSynonym "NEDMILG" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017451 oboInOwl:hasExactSynonym "manus non-syndromic brachydactyly" MONDO:0017451 oboInOwl:hasExactSynonym "non-syndromic brachydactyly of manus" @@ -124380,6 +125321,7 @@ MONDO:0002667 oboInOwl:hasExactSynonym "gallbladder signet Ring cell carcinoma" MONDO:0002667 oboInOwl:hasExactSynonym "gall bladder signet ring cell carcinoma" MONDO:0002667 oboInOwl:hasExactSynonym "signet Ring cell carcinoma of the gallbladder" MONDO:0011112 oboInOwl:hasExactSynonym "Wilms tumor type 5" +MONDO:0011112 oboInOwl:hasExactSynonym "Wilms tumor susceptibility-5, autosomal dominant, somatic mutation" MONDO:0011112 oboInOwl:hasExactSynonym "Wilms tumor 5" MONDO:0010556 oboInOwl:hasExactSynonym "chondrodysplasia punctata, X-linked" MONDO:0010556 oboInOwl:hasExactSynonym "chondrodystrophia calcificans congenita" @@ -124390,6 +125332,7 @@ MONDO:0014372 oboInOwl:hasExactSynonym "CORD19" http://purl.obolibrary.org/obo/m MONDO:0014372 oboInOwl:hasExactSynonym "cone-rod dystrophy type 19" MONDO:0014372 oboInOwl:hasExactSynonym "cone-rod dystrophy 19" MONDO:0060583 oboInOwl:hasExactSynonym "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" +MONDO:0060583 oboInOwl:hasExactSynonym "immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia" MONDO:0010732 oboInOwl:hasExactSynonym "Wells-Jankovic syndrome" MONDO:0013955 oboInOwl:hasExactSynonym "immunodeficiency type 30" MONDO:0013955 oboInOwl:hasExactSynonym "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1" @@ -124407,6 +125350,7 @@ MONDO:0009388 oboInOwl:hasExactSynonym "hyperlysinemia" MONDO:0009388 oboInOwl:hasExactSynonym "hyperlysinemia type I" MONDO:0009388 oboInOwl:hasExactSynonym "lysine alpha-ketoglutarate reductase deficiency" MONDO:0009388 oboInOwl:hasExactSynonym "hyperlysinemia (disease)" +MONDO:0034106 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 73" MONDO:0034106 oboInOwl:hasExactSynonym "rnf13-related severe early-onset epileptic encephalopathy" MONDO:0034106 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 73" MONDO:0034106 oboInOwl:hasExactSynonym "DEE73" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -124416,6 +125360,7 @@ MONDO:0012737 oboInOwl:hasExactSynonym "LQT10" http://purl.obolibrary.org/obo/mo MONDO:0012737 oboInOwl:hasExactSynonym "long QT syndrome type 10" MONDO:0012737 oboInOwl:hasExactSynonym "long QT syndrome caused by mutation in SCN4B" MONDO:0007691 oboInOwl:hasExactSynonym "polyneuropathy, inflammatory demyelinating, acute" +MONDO:0007691 oboInOwl:hasExactSynonym "neuropathy, inflammatory demyelinating" MONDO:0007691 oboInOwl:hasExactSynonym "Guillain-Barre syndrome, familial" MONDO:0007691 oboInOwl:hasExactSynonym "AIDP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007691 oboInOwl:hasExactSynonym "polyneuropathy, inflammatory demyelinating, chronic" @@ -124433,6 +125378,7 @@ MONDO:0004958 oboInOwl:hasExactSynonym "squamous cell carcinoma of mouth" MONDO:0004958 oboInOwl:hasExactSynonym "squamous cell carcinoma of oral cavity" MONDO:0004958 oboInOwl:hasExactSynonym "squamous cell carcinoma of the oral cavity" MONDO:0007520 oboInOwl:hasExactSynonym "EEC syndrome 1" +MONDO:0007520 oboInOwl:hasExactSynonym "EEC syndrome-1" MONDO:0007520 oboInOwl:hasExactSynonym "EEC1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007520 oboInOwl:hasExactSynonym "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1" GO:0046034 oboInOwl:hasExactSynonym "ATP metabolism" @@ -124507,7 +125453,9 @@ MONDO:0016542 oboInOwl:hasExactSynonym "IL10-related early-onset IBD" MONDO:0012106 oboInOwl:hasExactSynonym "microcephaly 5, primary, autosomal recessive" MONDO:0012106 oboInOwl:hasExactSynonym "ASPM autosomal recessive primary microcephaly" MONDO:0012106 oboInOwl:hasExactSynonym "autosomal recessive primary microcephaly caused by mutation in ASPM" +MONDO:0013664 oboInOwl:hasExactSynonym "46XY sex reversal 8" MONDO:0013664 oboInOwl:hasExactSynonym "46,XY sex reversal type 8" +MONDO:0013664 oboInOwl:hasExactSynonym "46XY sex reversal 8, modifier of" MONDO:0020519 oboInOwl:hasExactSynonym "hand-Schuller-Christian disease" MONDO:0020519 oboInOwl:hasExactSynonym "multifocal eosinophilic granuloma" MONDO:0020519 oboInOwl:hasExactSynonym "multifocal Unisystem Langerhans cell histiocytosis" @@ -124525,10 +125473,10 @@ MONDO:0003993 oboInOwl:hasExactSynonym "pediatric botryoid-type embryonal rhabdo MONDO:0003993 oboInOwl:hasExactSynonym "childhood botryoid-type embryonal rhabdomyosarcoma of the vagina" MONDO:0003993 oboInOwl:hasExactSynonym "vaginal childhood botryoid-type embryonal rhabdomyosarcoma" MONDO:0003993 oboInOwl:hasExactSynonym "vaginal childhood sarcoma Botryoides" -MONDO:0012516 oboInOwl:hasExactSynonym "MFDM syndrome" +MONDO:0012516 oboInOwl:hasExactSynonym "mandibulofacial dysostosis-microcephaly syndrome" MONDO:0012516 oboInOwl:hasExactSynonym "mandibulofacial dysostosis, Guion-Almeida type" +MONDO:0012516 oboInOwl:hasExactSynonym "MFDM syndrome" MONDO:0012516 oboInOwl:hasExactSynonym "mandibulofacial dysostosis with microcephaly" -MONDO:0012516 oboInOwl:hasExactSynonym "mandibulofacial dysostosis-microcephaly syndrome" MONDO:0005154 oboInOwl:hasExactSynonym "liver disorder" MONDO:0005154 oboInOwl:hasExactSynonym "hepatic disorder" MONDO:0005154 oboInOwl:hasExactSynonym "disease or disorder of liver" @@ -124574,6 +125522,7 @@ MONDO:0000653 oboInOwl:hasExactSynonym "malignant integumental system neoplasm" MONDO:0000653 oboInOwl:hasExactSynonym "integumental system cancer" MONDO:0000653 oboInOwl:hasExactSynonym "malignant neoplasm of integumental system" MONDO:0000653 oboInOwl:hasExactSynonym "cancer of integumental system" +MONDO:0010558 oboInOwl:hasExactSynonym "Xq21 deletion syndrome, X-linked recessive" MONDO:0010558 oboInOwl:hasExactSynonym "Ayazi syndrome" HP:0004319 oboInOwl:hasExactSynonym "Decreased aldosterone" HP:0004319 oboInOwl:hasExactSynonym "Mineralocorticoid insufficiency" @@ -124581,7 +125530,9 @@ HP:0004319 oboInOwl:hasExactSynonym "Decreased serum aldosterone" HP:0004319 oboInOwl:hasExactSynonym "Decreased aldosterone production" HP:0004319 oboInOwl:hasExactSynonym "Low blood aldosterone level" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0004319 oboInOwl:hasExactSynonym "Hypoaldosteronism" +MONDO:0010734 oboInOwl:hasExactSynonym "Turner syndrome-associated neurocognitive phenotype, X-linked recessive" MONDO:0010734 oboInOwl:hasExactSynonym "spatial visualization, aptitude for" +MONDO:0010734 oboInOwl:hasExactSynonym "visuospatial/perceptual abilities, X-linked recessive" MONDO:0009238 oboInOwl:hasExactSynonym "congenital folate malabsorption" MONDO:0005341 oboInOwl:hasExactSynonym "skin basal cell cancer" MONDO:0005341 oboInOwl:hasExactSynonym "skin basal cell carcinoma" @@ -124591,6 +125542,7 @@ MONDO:0005341 oboInOwl:hasExactSynonym "basal cell epithelioma" MONDO:0005341 oboInOwl:hasExactSynonym "basal cell carcinoma of skin" MONDO:0011589 oboInOwl:hasExactSynonym "MCOPCB2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010335 oboInOwl:hasExactSynonym "CORDX3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010335 oboInOwl:hasExactSynonym "cone-rod dystrophy, X-linked, 3, X-linked recessive" MONDO:0010335 oboInOwl:hasExactSynonym "X-linked cone-rod dystrophy type 3" MONDO:0010335 oboInOwl:hasExactSynonym "cone-rod dystrophy, X-linked, type 3" MONDO:0014151 oboInOwl:hasExactSynonym "pulmonary hypertension, neonatal, susceptibility to" @@ -124622,6 +125574,7 @@ MONDO:0033368 oboInOwl:hasExactSynonym "DEE59" http://purl.obolibrary.org/obo/mo MONDO:0033368 oboInOwl:hasExactSynonym "infantile epileptic encephalopathy 59" MONDO:0033368 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 59" MONDO:0033368 oboInOwl:hasExactSynonym "EIEE59" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0033368 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 59" MONDO:0007997 oboInOwl:hasExactSynonym "microspherophakia with hernia" MONDO:0011999 oboInOwl:hasExactSynonym "OTSC3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011999 oboInOwl:hasExactSynonym "otosclerosis 3" @@ -124633,20 +125586,21 @@ MONDO:0012193 oboInOwl:hasExactSynonym "autosomal dominant limb-girdle muscular MONDO:0012193 oboInOwl:hasExactSynonym "LGMD1G" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012193 oboInOwl:hasExactSynonym "muscular dystrophy limb-girdle type 1G" MONDO:0012193 oboInOwl:hasExactSynonym "HNRNPDL autosomal dominant limb-girdle muscular dystrophy" +MONDO:0012193 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal dominant 3" MONDO:0002186 oboInOwl:hasExactSynonym "maxillary sinusitis, acute" MONDO:0002186 oboInOwl:hasExactSynonym "acute antritis" -MONDO:0011776 oboInOwl:hasExactSynonym "chronic infantile neurological cutaneous articular syndrome" MONDO:0011776 oboInOwl:hasExactSynonym "NOMID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011776 oboInOwl:hasExactSynonym "neonatal-onset multisystem inflammatory disease" -MONDO:0011776 oboInOwl:hasExactSynonym "Prieur-Griscelli syndrome" MONDO:0011776 oboInOwl:hasExactSynonym "infantile-onset multisystem inflammatory disease" -MONDO:0011776 oboInOwl:hasExactSynonym "chronic neurologic cutaneous and articular syndrome" -MONDO:0011776 oboInOwl:hasExactSynonym "chronic infantile neurological cutaneous and articular syndrome" -MONDO:0011776 oboInOwl:hasExactSynonym "IOMID syndrome" +MONDO:0011776 oboInOwl:hasExactSynonym "chronic infantile neurological cutaneous articular syndrome" MONDO:0011776 oboInOwl:hasExactSynonym "NOMID syndrome" +MONDO:0011776 oboInOwl:hasExactSynonym "Prieur-Griscelli syndrome" MONDO:0011776 oboInOwl:hasExactSynonym "CINCA syndrome" -MONDO:0011776 oboInOwl:hasExactSynonym "CINCA/NOMID" +MONDO:0011776 oboInOwl:hasExactSynonym "IOMID syndrome" +MONDO:0011776 oboInOwl:hasExactSynonym "chronic neurologic cutaneous and articular syndrome" MONDO:0011776 oboInOwl:hasExactSynonym "cryopyrin-associated periodic syndrome 3" +MONDO:0011776 oboInOwl:hasExactSynonym "neonatal-onset multisystem inflammatory disease" +MONDO:0011776 oboInOwl:hasExactSynonym "chronic infantile neurological cutaneous and articular syndrome" +MONDO:0011776 oboInOwl:hasExactSynonym "CINCA/NOMID" MONDO:0016544 oboInOwl:hasExactSynonym "sclerosing mesenteritis" MONDO:0016544 oboInOwl:hasExactSynonym "lipomatous mesenteritis" MONDO:0016544 oboInOwl:hasExactSynonym "mesenteric panniculitis" @@ -124711,6 +125665,7 @@ GO:0044247 oboInOwl:hasExactSynonym "cellular polysaccharide degradation" GO:0044247 oboInOwl:hasExactSynonym "cellular polysaccharide catabolism" GO:0044247 oboInOwl:hasExactSynonym "cellular polysaccharide breakdown" MONDO:0017985 oboInOwl:hasExactSynonym "radioulnar synostosis (disease)" +MONDO:0017985 oboInOwl:hasExactSynonym "radioulnar synostosis, nonsyndromic" MONDO:0017985 oboInOwl:hasExactSynonym "radioulnar synostosis" MONDO:0017985 oboInOwl:hasExactSynonym "radioulnar fusion" MONDO:0016731 oboInOwl:hasExactSynonym "DIA/DIG" @@ -124749,20 +125704,20 @@ MONDO:0006801 oboInOwl:hasExactSynonym "tumor of ileum" MONDO:0006801 oboInOwl:hasExactSynonym "neoplasm of the ileum" CHEBI:16709 oboInOwl:hasExactSynonym "4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol" CHEBI:16709 oboInOwl:hasExactSynonym "pyridoxine" +CL:4006001 oboInOwl:hasExactSynonym "skin of scalp fibroblast" MONDO:0014537 oboInOwl:hasExactSynonym "nephronophthisis type 19" MONDO:0014537 oboInOwl:hasExactSynonym "NPHP19" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014537 oboInOwl:hasExactSynonym "nephronophthisis 19" MONDO:0014537 oboInOwl:hasExactSynonym "DCDC2 nephronophthisis (disease)" MONDO:0014537 oboInOwl:hasExactSynonym "nephronophthisis (disease) caused by mutation in DCDC2" -CL:4006001 oboInOwl:hasExactSynonym "skin of scalp fibroblast" GO:0046885 oboInOwl:hasExactSynonym "regulation of hormone formation" GO:0046885 oboInOwl:hasExactSynonym "regulation of hormone biosynthesis" GO:0046885 oboInOwl:hasExactSynonym "regulation of hormone synthesis" GO:0046885 oboInOwl:hasExactSynonym "regulation of hormone anabolism" MONDO:0015415 oboInOwl:hasExactSynonym "Orbitofacial cleft" MONDO:0019157 oboInOwl:hasExactSynonym "refractory Anemia with ringed sideroblasts" -MONDO:0019157 oboInOwl:hasExactSynonym "primary acquired sideroblastic anemia" MONDO:0019157 oboInOwl:hasExactSynonym "AISA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0019157 oboInOwl:hasExactSynonym "primary acquired sideroblastic anemia" MONDO:0019157 oboInOwl:hasExactSynonym "refractory anemia with ringed sideroblasts" MONDO:0019157 oboInOwl:hasExactSynonym "Pure sideroblastic Anemia" MONDO:0019157 oboInOwl:hasExactSynonym "myelodysplastic syndrome with Ring sideroblasts" @@ -124783,6 +125738,7 @@ MONDO:0018190 oboInOwl:hasExactSynonym "SMALED" http://purl.obolibrary.org/obo/m MONDO:0007585 oboInOwl:hasExactSynonym "exostoses, multiple caused by mutation in EXT1" MONDO:0007585 oboInOwl:hasExactSynonym "exostoses, multiple, type 1" MONDO:0007585 oboInOwl:hasExactSynonym "EXT1 exostoses, multiple" +MONDO:0020791 oboInOwl:hasExactSynonym "meesmann corneal dystrophy 1" GO:1901148 oboInOwl:hasExactSynonym "expression of extracellular matrix proteins" CHEBI:36916 oboInOwl:hasExactSynonym "Cation" CHEBI:36916 oboInOwl:hasExactSynonym "cation" @@ -124813,6 +125769,7 @@ MONDO:0001526 oboInOwl:hasExactSynonym "malignant labia minora tumor" MONDO:0001526 oboInOwl:hasExactSynonym "cancer of labium minora" MONDO:0001526 oboInOwl:hasExactSynonym "malignant tumor of the labia minora" MONDO:0007429 oboInOwl:hasExactSynonym "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" +MONDO:0007429 oboInOwl:hasExactSynonym "optic atrophy plus syndrome" MONDO:0008133 oboInOwl:hasExactSynonym "autosomal dominant optic atrophy type 3" MONDO:0008133 oboInOwl:hasExactSynonym "optic atrophy 3" MONDO:0008133 oboInOwl:hasExactSynonym "OPA3, autosomal dominant" @@ -124871,17 +125828,19 @@ MONDO:0056806 oboInOwl:hasExactSynonym "non-small cell squamous lung carcinoma" MONDO:0056806 oboInOwl:hasExactSynonym "squamous non-small cell lung carcinoma" MONDO:0009403 oboInOwl:hasExactSynonym "hypertelorism and tetralogy of fallot" MONDO:0013066 oboInOwl:hasExactSynonym "46,XY sex reversal 3" +MONDO:0013066 oboInOwl:hasExactSynonym "46XY sex reversal 3" MONDO:0013066 oboInOwl:hasExactSynonym "46,XY Sex reversal type 3" MONDO:0014012 oboInOwl:hasExactSynonym "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q" MONDO:0014012 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease caused by mutation in DHTKD1" MONDO:0014012 oboInOwl:hasExactSynonym "DHTKD1 Charcot-Marie-Tooth disease" MONDO:0014012 oboInOwl:hasExactSynonym "autosomal dominant Charcot-Marie-Tooth disease type 2Q" -MONDO:0014012 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2Q" MONDO:0014012 oboInOwl:hasExactSynonym "CMT2Q" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014012 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2Q" MONDO:0010500 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndromic type 33" MONDO:0010500 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic type 33" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010500 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndromic 33" MONDO:0010500 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic 33" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010500 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked syndromic 33, X-linked recessive" MONDO:0010500 oboInOwl:hasExactSynonym "MRXS33" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010500 oboInOwl:hasExactSynonym "TAF1 X-linked syndromic intellectual disability" MONDO:0010500 oboInOwl:hasExactSynonym "X-linked syndromic intellectual disability caused by mutation in TAF1" @@ -124927,6 +125886,7 @@ MONDO:0018192 oboInOwl:hasExactSynonym "adenocarcinoma of the paratestis" GO:0042068 oboInOwl:hasExactSynonym "regulation of pteridine metabolism" CHEBI:33743 oboInOwl:hasExactSynonym "manganese group molecular entity" MONDO:0011941 oboInOwl:hasExactSynonym "mycobacterium tuberculosis, susceptibility to, 1" +MONDO:0011941 oboInOwl:hasExactSynonym "tuberculosis, susceptibility to" MONDO:0011941 oboInOwl:hasExactSynonym "Mycobacterium tuberculosis, susceptibility to, type 1" HP:0000608 oboInOwl:hasExactSynonym "Pigmented macular degeneration" NCBITaxon:37020 oboInOwl:hasExactSynonym "marsh rice rat" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name @@ -124944,15 +125904,17 @@ MONDO:0029133 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosom CL:1000278 oboInOwl:hasExactSynonym "non-striated muscle fiber of ileum" MONDO:0012358 oboInOwl:hasExactSynonym "LPRS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012358 oboInOwl:hasExactSynonym "leprosy, susceptibility to, 1" -MONDO:0019053 oboInOwl:hasExactSynonym "peroxisomal function disorder" +MONDO:0012358 oboInOwl:hasExactSynonym "leprosy, paucibacillary type, susceptibility to" MONDO:0019053 oboInOwl:hasExactSynonym "peroxisomal disorder" MONDO:0019053 oboInOwl:hasExactSynonym "disorder of peroxisomal function" MONDO:0019053 oboInOwl:hasExactSynonym "peroxisomal disease" +MONDO:0019053 oboInOwl:hasExactSynonym "peroxisomal function disorder" MONDO:0037105 oboInOwl:hasExactSynonym "lung germ cell neoplasm" MONDO:0037105 oboInOwl:hasExactSynonym "lung germ cell tumor" MONDO:0013809 oboInOwl:hasExactSynonym "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" MONDO:0013809 oboInOwl:hasExactSynonym "CANVAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009397 oboInOwl:hasExactSynonym "NSHPT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009397 oboInOwl:hasExactSynonym "hyperparathyroidism, neonatal" MONDO:0030055 oboInOwl:hasExactSynonym "SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY" MONDO:0030055 oboInOwl:hasExactSynonym "SORDD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030055 oboInOwl:hasExactSynonym "Sorbitol Dehydrogenase Deficiency" @@ -125005,23 +125967,23 @@ GO:0045830 oboInOwl:hasExactSynonym "up regulation of isotype switching" GO:0045830 oboInOwl:hasExactSynonym "positive regulation of class switching" GO:0045830 oboInOwl:hasExactSynonym "up-regulation of isotype switching" MONDO:0010891 oboInOwl:hasExactSynonym "water-West syndrome" -MONDO:0001528 oboInOwl:hasExactSynonym "malignant vulvar neoplasm" MONDO:0001528 oboInOwl:hasExactSynonym "malignant vulva tumor" -MONDO:0001528 oboInOwl:hasExactSynonym "cancer of mammalian vulva" +MONDO:0001528 oboInOwl:hasExactSynonym "vulval cancer" +MONDO:0001528 oboInOwl:hasExactSynonym "malignant neoplasm of the vulva" +MONDO:0001528 oboInOwl:hasExactSynonym "malignant mammalian vulva neoplasm" +MONDO:0001528 oboInOwl:hasExactSynonym "malignant neoplasm of mammalian vulva" +MONDO:0001528 oboInOwl:hasExactSynonym "Ca vulva" MONDO:0001528 oboInOwl:hasExactSynonym "malignant tumor of vulva" -MONDO:0001528 oboInOwl:hasExactSynonym "mammalian vulva cancer" +MONDO:0001528 oboInOwl:hasExactSynonym "cancer of mammalian vulva" MONDO:0001528 oboInOwl:hasExactSynonym "malignant neoplasm of vulva unspecified" MONDO:0001528 oboInOwl:hasExactSynonym "malignant neoplasm of vulva, unspecified" -MONDO:0001528 oboInOwl:hasExactSynonym "malignant mammalian vulva neoplasm" -MONDO:0001528 oboInOwl:hasExactSynonym "malignant vulvar tumor" -MONDO:0001528 oboInOwl:hasExactSynonym "Ca vulva" -MONDO:0001528 oboInOwl:hasExactSynonym "malignant neoplasm of the vulva" -MONDO:0001528 oboInOwl:hasExactSynonym "vulvar cancer" -MONDO:0001528 oboInOwl:hasExactSynonym "malignant neoplasm of mammalian vulva" -MONDO:0001528 oboInOwl:hasExactSynonym "vulval cancer" -MONDO:0001528 oboInOwl:hasExactSynonym "malignant neoplasm of vulva" MONDO:0001528 oboInOwl:hasExactSynonym "malignant vulva neoplasm" +MONDO:0001528 oboInOwl:hasExactSynonym "malignant vulvar neoplasm" +MONDO:0001528 oboInOwl:hasExactSynonym "mammalian vulva cancer" +MONDO:0001528 oboInOwl:hasExactSynonym "malignant neoplasm of vulva" +MONDO:0001528 oboInOwl:hasExactSynonym "vulvar cancer" MONDO:0001528 oboInOwl:hasExactSynonym "malignant tumor of the vulva" +MONDO:0001528 oboInOwl:hasExactSynonym "malignant vulvar tumor" MONDO:0013255 oboInOwl:hasExactSynonym "arthrogryposis, renal dysfunction, and cholestasis type 2" MONDO:0013255 oboInOwl:hasExactSynonym "VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome" MONDO:0013255 oboInOwl:hasExactSynonym "arthrogryposis, renal dysfunction, and cholestasis 2" @@ -125033,6 +125995,7 @@ MONDO:0014201 oboInOwl:hasExactSynonym "EIEE18" http://purl.obolibrary.org/obo/m MONDO:0014201 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 18" MONDO:0014201 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 18" MONDO:0014201 oboInOwl:hasExactSynonym "DEE18" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014201 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 18" MONDO:0016347 oboInOwl:hasExactSynonym "rare cardiac rhythm disease" HsapDv:0000080 oboInOwl:hasExactSynonym "0-12 years" GO:0005975 oboInOwl:hasExactSynonym "carbohydrate metabolism" @@ -125068,6 +126031,7 @@ MONDO:0002108 oboInOwl:hasExactSynonym "cancer of thyroid gland" MONDO:0002108 oboInOwl:hasExactSynonym "malignant thyroid neoplasm" MONDO:0002108 oboInOwl:hasExactSynonym "malignant thyroid tumor" MONDO:0002108 oboInOwl:hasExactSynonym "malignant thyroid gland neoplasm" +MONDO:0032723 oboInOwl:hasExactSynonym "immunodeficiency 60 and autoimmunity" OBA:0100003 oboInOwl:hasExactSynonym "quality of anatomical entity" MONDO:0017788 oboInOwl:hasExactSynonym "Dinno syndrome" MONDO:0008626 oboInOwl:hasExactSynonym "ureter, bifid or double" @@ -125105,6 +126069,7 @@ MONDO:0001899 oboInOwl:hasExactSynonym "rheumatic heart failure" MONDO:0001899 oboInOwl:hasExactSynonym "rheumatic heart failure (congestive)" MONDO:0001899 oboInOwl:hasExactSynonym "congestive rheumatic heart failure" MONDO:0010344 oboInOwl:hasExactSynonym "ZNF81 non-syndromic X-linked intellectual disability" +MONDO:0010344 oboInOwl:hasExactSynonym "mental retardation, X-linked 45" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010344 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 45" MONDO:0010344 oboInOwl:hasExactSynonym "mental retardation, X-linked type 45" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010344 oboInOwl:hasExactSynonym "intellectual disability, X-linked 45" @@ -125235,12 +126200,26 @@ MONDO:0042491 oboInOwl:hasExactSynonym "cervix squamous intraepithelial lesion" MONDO:0042491 oboInOwl:hasExactSynonym "uterine cervix squamous intraepithelial lesion" MONDO:0009963 oboInOwl:hasExactSynonym "renal dysplasia-limb defects syndrome" MONDO:0009963 oboInOwl:hasExactSynonym "renal dysplasia-mesomelia-radiohumeral fusion syndrome" +MONDO:0011817 oboInOwl:hasExactSynonym "coronary artery disease, resistance to" MONDO:0011817 oboInOwl:hasExactSynonym "CX3CR1 coronary artery disease" MONDO:0011817 oboInOwl:hasExactSynonym "coronary heart disease, susceptibility to, 1" MONDO:0011817 oboInOwl:hasExactSynonym "coronary artery disease caused by mutation in CX3CR1" +MONDO:0011817 oboInOwl:hasExactSynonym "coronary heart disease, susceptibility to" MONDO:0011817 oboInOwl:hasExactSynonym "coronary heart disease, susceptibility to, type 1" MONDO:0017977 oboInOwl:hasExactSynonym "46,XY DSD of gynecological interest" MONDO:0010752 oboInOwl:hasExactSynonym "VACTERL association, X-linked, with or without hydrocephalus" +MONDO:0010752 oboInOwl:hasExactSynonym "VACTERL association, X-linked, X-linked recessive" +MONDO:0022173 oboInOwl:hasExactSynonym "partial trisomy of the long arm of chromosome 11" +MONDO:0022173 oboInOwl:hasExactSynonym "11q duplication" +MONDO:0022173 oboInOwl:hasExactSynonym "partial duplication of the long arm of chromosome type 11" +MONDO:0022173 oboInOwl:hasExactSynonym "trisomy 11q" +MONDO:0022173 oboInOwl:hasExactSynonym "partial trisomy 11q" +MONDO:0022173 oboInOwl:hasExactSynonym "partial duplication of chromosome 11q" +MONDO:0022173 oboInOwl:hasExactSynonym "11q trisomy" +MONDO:0022173 oboInOwl:hasExactSynonym "chromosome 11q duplication" +MONDO:0022173 oboInOwl:hasExactSynonym "partial trisomy of chromosome 11q" +MONDO:0022173 oboInOwl:hasExactSynonym "partial duplication of the long arm of chromosome 11" +MONDO:0022173 oboInOwl:hasExactSynonym "Duplication 11q" MONDO:0006082 oboInOwl:hasExactSynonym "epidermoid carcinoma of anus" MONDO:0006082 oboInOwl:hasExactSynonym "squamous cell anal carcinoma" MONDO:0006082 oboInOwl:hasExactSynonym "anal squamous cell carcinoma" @@ -125395,6 +126374,7 @@ MONDO:0005647 oboInOwl:hasExactSynonym "anogenital Human Papillomavirus infectio MONDO:0005647 oboInOwl:hasExactSynonym "venereal wart" MONDO:0005647 oboInOwl:hasExactSynonym "anogenital Human papilloma Virus infectious disease" MONDO:0005647 oboInOwl:hasExactSynonym "genital wart virus infectious disease" +MONDO:0800001 oboInOwl:hasExactSynonym "delayed sleep phase disorder, susceptibility to" MONDO:0012738 oboInOwl:hasExactSynonym "AKAP9 long QT syndrome" MONDO:0012738 oboInOwl:hasExactSynonym "long QT syndrome 11" MONDO:0012738 oboInOwl:hasExactSynonym "long QT syndrome caused by mutation in AKAP9" @@ -125428,7 +126408,9 @@ MONDO:0006290 oboInOwl:hasExactSynonym "malignant tumor of germ cell" MONDO:0006290 oboInOwl:hasExactSynonym "malignant germ cell neoplasm" MONDO:0018138 oboInOwl:hasExactSynonym "WS2-OA" MONDO:0018138 oboInOwl:hasExactSynonym "autosomal recessive Waardenburg syndrome type 2 with ocular albinism" +MONDO:0018138 oboInOwl:hasExactSynonym "Waardenburg syndrome/albinism, digenic" MONDO:0018138 oboInOwl:hasExactSynonym "Waardenburg syndrome type 2 with ocular albinism" +MONDO:0018138 oboInOwl:hasExactSynonym "Waardenburg syndrome/ocular albinism, digenic" MONDO:0018138 oboInOwl:hasExactSynonym "digenic Waardenburg syndrome/albinism" MONDO:0018138 oboInOwl:hasExactSynonym "digenic Waardenburg syndrome/ocular albinism" GO:0009127 oboInOwl:hasExactSynonym "purine nucleoside monophosphate synthesis" @@ -125456,31 +126438,33 @@ MONDO:0003781 oboInOwl:hasExactSynonym "inflammation of bronchus" MONDO:0003781 oboInOwl:hasExactSynonym "bronchial infection" MONDO:0003781 oboInOwl:hasExactSynonym "CI - chest infection" MONDO:0003781 oboInOwl:hasExactSynonym "bronchus inflammation" +MONDO:0010733 oboInOwl:hasExactSynonym "X-linked spastic paraplegia type 2" MONDO:0010733 oboInOwl:hasExactSynonym "hereditary spastic paraplegia caused by mutation in PLP1" -MONDO:0010733 oboInOwl:hasExactSynonym "hereditary spastic paraplegia type 2" -MONDO:0010733 oboInOwl:hasExactSynonym "spastic paraparesis type 2" +MONDO:0010733 oboInOwl:hasExactSynonym "spastic paraplegia 2, X-linked, X-linked recessive" MONDO:0010733 oboInOwl:hasExactSynonym "spastic paraplegia type 2" MONDO:0010733 oboInOwl:hasExactSynonym "SPG2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010733 oboInOwl:hasExactSynonym "PLP1 hereditary spastic paraplegia" MONDO:0010733 oboInOwl:hasExactSynonym "X-linked spastic paraplegia 2" -MONDO:0010733 oboInOwl:hasExactSynonym "X-linked spastic paraplegia type 2" +MONDO:0010733 oboInOwl:hasExactSynonym "spastic paraparesis type 2" +MONDO:0010733 oboInOwl:hasExactSynonym "hereditary spastic paraplegia type 2" MONDO:0010733 oboInOwl:hasExactSynonym "spastic gait type 2" -MONDO:0010733 oboInOwl:hasExactSynonym "PLP1 hereditary spastic paraplegia" MONDO:0003610 oboInOwl:hasExactSynonym "rete ovarii cystadenoma" MONDO:0021539 oboInOwl:hasExactSynonym "cutaneous appendage hamartoma (disease)" MONDO:0021539 oboInOwl:hasExactSynonym "skin appendage hamartoma" MONDO:0007692 oboInOwl:hasExactSynonym "hairy ears" CHEBI:33694 oboInOwl:hasExactSynonym "biopolymer" -MONDO:0004161 oboInOwl:hasExactSynonym "uterine corpus hemorrhagic cellular leiomyoma" -MONDO:0004161 oboInOwl:hasExactSynonym "uterine corpus leiomyoma with apoplectic change" MONDO:0016356 oboInOwl:hasExactSynonym "diffuse cutaneous systemic scleroderma" MONDO:0016356 oboInOwl:hasExactSynonym "progressive cutaneous systemic scleroderma" MONDO:0016356 oboInOwl:hasExactSynonym "dSSc" MONDO:0016356 oboInOwl:hasExactSynonym "progressive cutaneous systemic sclerosis" +MONDO:0004161 oboInOwl:hasExactSynonym "uterine corpus hemorrhagic cellular leiomyoma" +MONDO:0004161 oboInOwl:hasExactSynonym "uterine corpus leiomyoma with apoplectic change" MONDO:0015102 oboInOwl:hasExactSynonym "non-secreting chemodectoma" MONDO:0020590 oboInOwl:hasExactSynonym "mycobacteriosis" MONDO:0020590 oboInOwl:hasExactSynonym "mycobacterium infection" MONDO:0020590 oboInOwl:hasExactSynonym "mycobacterial infection" MONDO:0011998 oboInOwl:hasExactSynonym "autosomal dominant slowed nerve conduction velocity" +MONDO:0011998 oboInOwl:hasExactSynonym "slowed nerve conduction velocity, AD" MONDO:0024361 oboInOwl:hasExactSynonym "sleep-wake schedule disorder" MONDO:0024361 oboInOwl:hasExactSynonym "circadian sleep disorder" MONDO:0024361 oboInOwl:hasExactSynonym "disorders of the sleep-wake schedule" @@ -125511,6 +126495,7 @@ MONDO:0019732 oboInOwl:hasExactSynonym "hereditary renal amyloidosis due to lyso MONDO:0019732 oboInOwl:hasExactSynonym "lysozyme amyloidosis" MONDO:0014759 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 51" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014759 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 51" +MONDO:0014759 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 51" MONDO:0014759 oboInOwl:hasExactSynonym "MRT51" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014759 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive 51" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014759 oboInOwl:hasExactSynonym "HNMT autosomal recessive non-syndromic intellectual disability" @@ -125520,10 +126505,10 @@ MONDO:0008822 oboInOwl:hasExactSynonym "arthrogryposis, renal dysfunction, and c MONDO:0008822 oboInOwl:hasExactSynonym "arthrogryposis, renal dysfunction, and cholestasis type 1" MONDO:0008822 oboInOwl:hasExactSynonym "VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome" MONDO:0008822 oboInOwl:hasExactSynonym "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B" -PO:0009002 oboInOwl:hasExactSynonym "célula vegetal (Spanish, exact)" -PO:0009002 oboInOwl:hasExactSynonym "植物細胞 (Japanese, exact)" MONDO:0004573 oboInOwl:hasExactSynonym "riboflavin deficiency" MONDO:0004573 oboInOwl:hasExactSynonym "vitamin B2 deficiency" +PO:0009002 oboInOwl:hasExactSynonym "célula vegetal (Spanish, exact)" +PO:0009002 oboInOwl:hasExactSynonym "植物細胞 (Japanese, exact)" MONDO:0009239 oboInOwl:hasExactSynonym "isolated FSH deficiency" MONDO:0009239 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism caused by mutation in FSHB" MONDO:0009239 oboInOwl:hasExactSynonym "FSHB hypogonadotropic hypogonadism" @@ -125538,11 +126523,13 @@ MONDO:0004410 oboInOwl:hasExactSynonym "sarcomatous carcinoma of the penis" MONDO:0004410 oboInOwl:hasExactSynonym "sarcomatoid carcinoma of the penis" GO:0071305 oboInOwl:hasExactSynonym "cellular response to calciferol" MONDO:0010336 oboInOwl:hasExactSynonym "oral-facial-digital syndrome, Edwards type" +MONDO:0010336 oboInOwl:hasExactSynonym "orofaciodigital syndrome VIII, X-linked recessive" MONDO:0010336 oboInOwl:hasExactSynonym "OFD8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010336 oboInOwl:hasExactSynonym "orofaciodigital syndrome VIII" MONDO:0010336 oboInOwl:hasExactSynonym "orofaciodigital syndrome type VIII" MONDO:0010336 oboInOwl:hasExactSynonym "oral-facial-digital syndrome type 8" MONDO:0010336 oboInOwl:hasExactSynonym "orofaciodigital syndrome, Edwards type" +MONDO:0034109 oboInOwl:hasExactSynonym "myopathy, congenital, with fast-twitch (type II) fiber atrophy" GO:1900116 oboInOwl:hasExactSynonym "negative regulation of signaling pathway in extracellular region" GO:1900116 oboInOwl:hasExactSynonym "down-regulation of signal transduction in extracellular region" GO:1900116 oboInOwl:hasExactSynonym "down regulation of signal transduction in extracellular region" @@ -125587,18 +126574,21 @@ MONDO:0011777 oboInOwl:hasExactSynonym "Alzheimer disease type 8" MONDO:0011777 oboInOwl:hasExactSynonym "AD8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011777 oboInOwl:hasExactSynonym "Alzheimer's disease 8" MONDO:0007334 oboInOwl:hasExactSynonym "popliteal pterygium syndrome, autosomal dominant" +MONDO:0007334 oboInOwl:hasExactSynonym "popliteal pterygium syndrome 1" MONDO:0007334 oboInOwl:hasExactSynonym "popliteal web syndrome" MONDO:0007334 oboInOwl:hasExactSynonym "facio-genito-popliteal syndrome" NCBITaxon:142786 oboInOwl:hasExactSynonym "Norwalk-like viruses" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name MONDO:0010559 oboInOwl:hasExactSynonym "crash syndrome" MONDO:0010559 oboInOwl:hasExactSynonym "hereditary spastic paraplegia 1" MONDO:0010559 oboInOwl:hasExactSynonym "Gareis-Mason syndrome" +MONDO:0010559 oboInOwl:hasExactSynonym "masa syndrome, X-linked recessive" MONDO:0010559 oboInOwl:hasExactSynonym "MASA syndrome" MONDO:0010559 oboInOwl:hasExactSynonym "X-linked complicated hereditary spastic paraplegia type 1" MONDO:0010559 oboInOwl:hasExactSynonym "spastic paraplegia, X-linked" MONDO:0010559 oboInOwl:hasExactSynonym "X-linked spastic paraplegia 1" MONDO:0010559 oboInOwl:hasExactSynonym "intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome" MONDO:0010559 oboInOwl:hasExactSynonym "X-linked corpus callosum agenesis" +MONDO:0010559 oboInOwl:hasExactSynonym "CRASH syndrome, X-linked recessive" MONDO:0017275 oboInOwl:hasExactSynonym "Bahemuka-Brown syndrome" MONDO:0006596 oboInOwl:hasExactSynonym "photoallergic eczema" MONDO:0006596 oboInOwl:hasExactSynonym "photoallergic contact dermatitis" @@ -125681,6 +126671,7 @@ GO:1904746 oboInOwl:hasExactSynonym "down regulation of apoptotic programmed cel GO:1902494 oboInOwl:hasExactSynonym "enzyme complex" MONDO:0033369 oboInOwl:hasExactSynonym "DEE60" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033369 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 60" +MONDO:0033369 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 60" MONDO:0033369 oboInOwl:hasExactSynonym "EIEE60" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019335 oboInOwl:hasExactSynonym "mHPA" MONDO:0019335 oboInOwl:hasExactSynonym "mild HPA" @@ -125706,6 +126697,11 @@ MONDO:0005563 oboInOwl:hasExactSynonym "Midline carcinoma of children and Young MONDO:0005563 oboInOwl:hasExactSynonym "nuclear protein in testis midline carcinoma" MONDO:0005563 oboInOwl:hasExactSynonym "NUT carcinoma" MONDO:0005563 oboInOwl:hasExactSynonym "NUT Midline carcinoma" +MONDO:0007763 oboInOwl:hasExactSynonym "renal cell carcinoma, clear cell, somatic" +MONDO:0007763 oboInOwl:hasExactSynonym "renal cell carcinoma" +MONDO:0007763 oboInOwl:hasExactSynonym "renal carcinoma, chromophobe, somatic" +MONDO:0007763 oboInOwl:hasExactSynonym "renal cell carcinoma, clear cell" +MONDO:0007763 oboInOwl:hasExactSynonym "renal cell carcinoma, somatic" MONDO:0019921 oboInOwl:hasExactSynonym "paternal uniparental disomy of chromosome type 6" MONDO:0019921 oboInOwl:hasExactSynonym "UPD(6)pat" GO:0045276 oboInOwl:hasExactSynonym "plasma membrane coenzyme Q-cytochrome c reductase complex" @@ -125725,6 +126721,7 @@ MONDO:0012498 oboInOwl:hasExactSynonym "CSNBAD1" http://purl.obolibrary.org/obo/ MONDO:0012498 oboInOwl:hasExactSynonym "RHO congenital stationary night blindness" MONDO:0008917 oboInOwl:hasExactSynonym "heart defect and limb shortening syndrome" MONDO:0014210 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 37" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0014210 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive, 37" MONDO:0014210 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 37" MONDO:0013830 oboInOwl:hasExactSynonym "KTCN5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013830 oboInOwl:hasExactSynonym "keratoconus 5" @@ -125784,6 +126781,7 @@ MONDO:0010338 oboInOwl:hasExactSynonym "SMAX3" http://purl.obolibrary.org/obo/mo MONDO:0010338 oboInOwl:hasExactSynonym "ATP7A-related distal motor neuropathy" MONDO:0010338 oboInOwl:hasExactSynonym "X-linked distal hereditary motor neuropathy type 3" MONDO:0010338 oboInOwl:hasExactSynonym "X-linked dSMA type 3" +MONDO:0010338 oboInOwl:hasExactSynonym "spinal muscular atrophy, distal, X-linked 3, X-linked recessive" MONDO:0006199 oboInOwl:hasExactSynonym "undifferentiated endometrial carcinoma" MONDO:0006199 oboInOwl:hasExactSynonym "endometrial undifferentiated carcinoma" MONDO:0006028 oboInOwl:hasExactSynonym "caecum adenocarcinoma" @@ -125830,6 +126828,7 @@ MONDO:0010501 oboInOwl:hasExactSynonym "X-linked syndromic intellectual disabili MONDO:0010501 oboInOwl:hasExactSynonym "MRXSML" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010501 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic type 34" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010501 oboInOwl:hasExactSynonym "syndromic X-linked intellectual disability type 34" +MONDO:0010501 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked syndromic 34" MONDO:0010501 oboInOwl:hasExactSynonym "macrocephaly-intellectual disability-left ventricular non compaction syndrome" MONDO:0010501 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndromic type 34" MONDO:0010501 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic 34" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -125891,6 +126890,7 @@ MONDO:0008073 oboInOwl:hasExactSynonym "familial juvenile hyperuricemic nephropa MONDO:0008073 oboInOwl:hasExactSynonym "medullary cystic kidney disease type 2" MONDO:0008073 oboInOwl:hasExactSynonym "UMOD familial juvenile hyperuricemic nephropathy" MONDO:0008073 oboInOwl:hasExactSynonym "UMOD-associated familial juvenile hyperuricemic nephropathy" +MONDO:0008073 oboInOwl:hasExactSynonym "tubulointerstitial kidney disease, autosomal dominant, 1" MONDO:0008073 oboInOwl:hasExactSynonym "FJHN type 1" MONDO:0008073 oboInOwl:hasExactSynonym "medullary cystic kidney disease 2" MONDO:0008073 oboInOwl:hasExactSynonym "hyperuricemic nephropathy, familial juvenile, type 1" @@ -125911,6 +126911,7 @@ GO:0009087 oboInOwl:hasExactSynonym "methionine catabolism" MONDO:0014820 oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome caused by mutation in OPA1" MONDO:0014820 oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)" MONDO:0014820 oboInOwl:hasExactSynonym "OPA1 mitochondrial DNA depletion syndrome" +MONDO:0014820 oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)" MONDO:0014820 oboInOwl:hasExactSynonym "MTDPS14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014820 oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14" MONDO:0001236 oboInOwl:hasExactSynonym "vermiform appendix neoplasm" @@ -125940,11 +126941,11 @@ MONDO:0021234 oboInOwl:hasExactSynonym "neoplasm of the spinal cord" SO:0000300 oboInOwl:hasExactSynonym "recombination feature of rearranged gene" MONDO:0008509 oboInOwl:hasExactSynonym "distal symphalangism" MONDO:0008509 oboInOwl:hasExactSynonym "distal symphalangism (disease)" -MONDO:0054849 oboInOwl:hasExactSynonym "inflammatory bowel disease 29" MONDO:0007835 oboInOwl:hasExactSynonym "intussusception (morphologic abnormality)" MONDO:0007835 oboInOwl:hasExactSynonym "intussusception" MONDO:0007835 oboInOwl:hasExactSynonym "invagination of intestine or colon" MONDO:0007835 oboInOwl:hasExactSynonym "intussusception of intestine" +MONDO:0054849 oboInOwl:hasExactSynonym "inflammatory bowel disease 29" MONDO:0009762 oboInOwl:hasExactSynonym "nystagmus, congenital, autosomal recessive" MONDO:0012031 oboInOwl:hasExactSynonym "CD36 deficiency" MONDO:0012031 oboInOwl:hasExactSynonym "platelet-type bleeding disorder 10" @@ -126003,6 +127004,7 @@ MONDO:0020466 oboInOwl:hasExactSynonym "monosomy type X" GO:0051782 oboInOwl:hasExactSynonym "downregulation of cell division" GO:0051782 oboInOwl:hasExactSynonym "down regulation of cell division" GO:0051782 oboInOwl:hasExactSynonym "down-regulation of cell division" +MONDO:0011651 oboInOwl:hasExactSynonym "intellectual developmental disorder with short stature, facial anomalies, and speech defects" MONDO:0001644 oboInOwl:hasExactSynonym "acute glomerulonephritis with lesion of proliferative glomerulonephritis" MONDO:0001644 oboInOwl:hasExactSynonym "proliferative glomerulonephritis, acute" MONDO:0001644 oboInOwl:hasExactSynonym "post-streptococcal glomerulonephritis" @@ -126022,6 +127024,7 @@ GO:2000726 oboInOwl:hasExactSynonym "negative regulation of cardiomyocyte differ MONDO:0016020 oboInOwl:hasExactSynonym "anterior encephalocele" MONDO:0010503 oboInOwl:hasExactSynonym "MAGED2 Bartter syndrome" MONDO:0010503 oboInOwl:hasExactSynonym "Bartter syndrome caused by mutation in MAGED2" +MONDO:0010503 oboInOwl:hasExactSynonym "Bartter syndrome, type 5, antenatal, transient, X-linked recessive" MONDO:0010503 oboInOwl:hasExactSynonym "BARTS5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010503 oboInOwl:hasExactSynonym "Bartter syndrome, type 5, antenatal, transient" MONDO:0019537 oboInOwl:hasExactSynonym "Hb-D disease" @@ -126098,6 +127101,7 @@ MONDO:0002109 oboInOwl:hasExactSynonym "cancer of pituitary gland" MONDO:0002109 oboInOwl:hasExactSynonym "malignant neoplasm of the pituitary gland" MONDO:0032724 oboInOwl:hasExactSynonym "SEMDJL3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020058 oboInOwl:hasExactSynonym "Sex-chromosome anomaly" +MONDO:0044220 oboInOwl:hasExactSynonym "blood group, Ii" ENVO:09000009 oboInOwl:hasExactSynonym "water carbon atom concentration" MONDO:0018043 oboInOwl:hasExactSynonym "Potter sequence-cleft lip/palate-cardiopathy syndrome" MONDO:0003572 oboInOwl:hasExactSynonym "lymphoepithelioma" @@ -126137,6 +127141,7 @@ MONDO:0010989 oboInOwl:hasExactSynonym "Müllerian duct aplasia-renal dysplasia- MONDO:0010989 oboInOwl:hasExactSynonym "MRKH syndrome type 2" CHEBI:22221 oboInOwl:hasExactSynonym "alkanoyl" CHEBI:22221 oboInOwl:hasExactSynonym "acyl group" +MONDO:0012641 oboInOwl:hasExactSynonym "restless legs syndrome 5" MONDO:0012641 oboInOwl:hasExactSynonym "RLS5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012641 oboInOwl:hasExactSynonym "restless legs syndrome, susceptibility to, 5" MONDO:0017284 oboInOwl:hasExactSynonym "Duplication Xp22" @@ -126147,6 +127152,7 @@ MONDO:0008165 oboInOwl:hasExactSynonym "Melanesian ovalocytosis" MONDO:0008165 oboInOwl:hasExactSynonym "hereditary ovalocytosis" MONDO:0008165 oboInOwl:hasExactSynonym "Melanesian elliptocytosis" MONDO:0008165 oboInOwl:hasExactSynonym "sao" +MONDO:0008165 oboInOwl:hasExactSynonym "ovalocytosis, SA type" MONDO:0018230 oboInOwl:hasExactSynonym "primary skeletal dysplasia" MONDO:0018230 oboInOwl:hasExactSynonym "primary osteodysplasia" MONDO:0000685 oboInOwl:hasExactSynonym "visual agnosia" @@ -126155,10 +127161,6 @@ MONDO:0000685 oboInOwl:hasExactSynonym "visual agnosia (disease)" MONDO:0005656 oboInOwl:hasExactSynonym "Ascaridida disease or disorder" MONDO:0005656 oboInOwl:hasExactSynonym "Ascaridida caused disease or disorder" MONDO:0004402 oboInOwl:hasExactSynonym "testicular yolk sac tumor, glandular-alveolar pattern" -MONDO:0006588 oboInOwl:hasExactSynonym "diffuse palmoplantar keratoderma, Bothnian type" -MONDO:0006588 oboInOwl:hasExactSynonym "diffuse nonepidermolytic palmomplantar keratoderma" -MONDO:0006588 oboInOwl:hasExactSynonym "tylosis" -MONDO:0006588 oboInOwl:hasExactSynonym "NEPPK" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009398 oboInOwl:hasExactSynonym "PIGV hyperphosphatasia-intellectual disability syndrome" MONDO:0009398 oboInOwl:hasExactSynonym "hyperphosphatasia with mental retardation syndrome type 1" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0009398 oboInOwl:hasExactSynonym "hyperphosphatasia with intellectual disability syndrome 1" @@ -126175,6 +127177,7 @@ MONDO:0012747 oboInOwl:hasExactSynonym "glycogen storage disease type 12" MONDO:0012747 oboInOwl:hasExactSynonym "GSD type XII" MONDO:0012747 oboInOwl:hasExactSynonym "GSD type 12" MONDO:0007530 oboInOwl:hasExactSynonym "electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon" +MONDO:0012524 oboInOwl:hasExactSynonym "hypoaldosteronism, congenital, due to CMO II deficiency" MONDO:0019390 oboInOwl:hasExactSynonym "Retinocochleocerebral vasculopathy" MONDO:0019390 oboInOwl:hasExactSynonym "SICRET syndrome" MONDO:0019390 oboInOwl:hasExactSynonym "small infarctions of cochlear, retinal and encephalic tissue" @@ -126183,6 +127186,7 @@ MONDO:0019390 oboInOwl:hasExactSynonym "RED-M" MONDO:0011818 oboInOwl:hasExactSynonym "cortical dysplasia, Taylor type" MONDO:0011818 oboInOwl:hasExactSynonym "isolated focal cortical dysplasia type 2" MONDO:0011818 oboInOwl:hasExactSynonym "FCD type II" +MONDO:0011818 oboInOwl:hasExactSynonym "focal cortical dysplasia, type II, somatic" CL:0000527 oboInOwl:hasExactSynonym "output neuron" GO:0003029 oboInOwl:hasExactSynonym "detection of hypoxic conditions in blood by carotid body chemoreceptor signalling" MONDO:0005186 oboInOwl:hasExactSynonym "cocaine addiction" @@ -126195,8 +127199,8 @@ MONDO:0006260 oboInOwl:hasExactSynonym "carcinoma of renal medulla" MONDO:0006260 oboInOwl:hasExactSynonym "kidney medullary carcinoma" MONDO:0054750 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis, susceptibility to, 24" MONDO:0005843 oboInOwl:hasExactSynonym "malignant tumor of the mediastinum" -MONDO:0005843 oboInOwl:hasExactSynonym "malignant neoplasm of the mediastinum" MONDO:0005843 oboInOwl:hasExactSynonym "cancer of the mediastinum" +MONDO:0005843 oboInOwl:hasExactSynonym "malignant neoplasm of the mediastinum" MONDO:0005843 oboInOwl:hasExactSynonym "malignant mediastinum neoplasm" MONDO:0005843 oboInOwl:hasExactSynonym "malignant neoplasm of mediastinum" MONDO:0005843 oboInOwl:hasExactSynonym "mediastinal cancer" @@ -126264,19 +127268,20 @@ MONDO:0010753 oboInOwl:hasExactSynonym "cardiac valvular dysplasia, X-linked" HP:0001662 oboInOwl:hasExactSynonym "Brachycardia" HP:0001662 oboInOwl:hasExactSynonym "Slow heartbeats" http://purl.obolibrary.org/obo/hp.obo#layperson GO:0017099 oboInOwl:hasExactSynonym "very long-chain-acyl-CoA dehydrogenase activity" -MONDO:0022174 oboInOwl:hasExactSynonym "partial monosomy of chromosome 12p" +MONDO:0022174 oboInOwl:hasExactSynonym "partial deletion of the short arm of chromosome type 12" +MONDO:0022174 oboInOwl:hasExactSynonym "partial deletion of the short arm of chromosome 12" MONDO:0022174 oboInOwl:hasExactSynonym "12p del" -MONDO:0022174 oboInOwl:hasExactSynonym "12p-" -MONDO:0022174 oboInOwl:hasExactSynonym "partial deletion of chromosome 12p" MONDO:0022174 oboInOwl:hasExactSynonym "partial monosomy of the short arm of chromosome 12" +MONDO:0022174 oboInOwl:hasExactSynonym "partial deletion of chromosome 12p" MONDO:0022174 oboInOwl:hasExactSynonym "loss of chromosome 12p" MONDO:0022174 oboInOwl:hasExactSynonym "del(12p)" -MONDO:0022174 oboInOwl:hasExactSynonym "partial deletion of the short arm of chromosome 12" -MONDO:0022174 oboInOwl:hasExactSynonym "partial deletion of the short arm of chromosome type 12" +MONDO:0022174 oboInOwl:hasExactSynonym "partial monosomy of chromosome 12p" +MONDO:0022174 oboInOwl:hasExactSynonym "12p-" MONDO:0010241 oboInOwl:hasExactSynonym "CSNB, incomplete, X-linked" MONDO:0010241 oboInOwl:hasExactSynonym "congenital stationary night blindness caused by mutation in CACNA1F" MONDO:0010241 oboInOwl:hasExactSynonym "CACNA1F congenital stationary night blindness" MONDO:0010241 oboInOwl:hasExactSynonym "congenital stationary night blindness type 2A" +MONDO:0010241 oboInOwl:hasExactSynonym "night blindness, congenital stationary (incomplete), 2A, X-linked" MONDO:0010241 oboInOwl:hasExactSynonym "congenital stationary night blindness 2A X-linked" MONDO:0001488 oboInOwl:hasExactSynonym "anterior corneal pigmentations" MONDO:0015807 oboInOwl:hasExactSynonym "myopic maculopathy" @@ -126437,12 +127442,12 @@ MONDO:0004091 oboInOwl:hasExactSynonym "zone of skin basaloid squamous cell carc MONDO:0004091 oboInOwl:hasExactSynonym "basaloid skin squamous cell carcinoma" MONDO:0004091 oboInOwl:hasExactSynonym "skin basaloid carcinoma" MONDO:0004091 oboInOwl:hasExactSynonym "skin basaloid squamous cell carcinoma" +MONDO:0011335 oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type" MONDO:0011335 oboInOwl:hasExactSynonym "SEMD-MD" -MONDO:0011335 oboInOwl:hasExactSynonym "SEMDJL2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011335 oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia with joint laxity type 2" MONDO:0011335 oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type" +MONDO:0011335 oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia with joint laxity type 2" +MONDO:0011335 oboInOwl:hasExactSynonym "SEMDJL2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011335 oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" -MONDO:0011335 oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type" MONDO:0006291 oboInOwl:hasExactSynonym "malignant glomus jugulare neoplasm" MONDO:0006291 oboInOwl:hasExactSynonym "malignant neoplasm of jugular body" MONDO:0006291 oboInOwl:hasExactSynonym "malignant tumor of glomus jugulare" @@ -126474,9 +127479,11 @@ HP:0005506 oboInOwl:hasExactSynonym "Chronic myeloid leukemia" HP:0005506 oboInOwl:hasExactSynonym "Chronic myeloid leukaemia" http://purl.obolibrary.org/obo/hp.obo#uk_spelling HP:0005506 oboInOwl:hasExactSynonym "Chronic myelogenous leukaemia" http://purl.obolibrary.org/obo/hp.obo#uk_spelling HP:0005506 oboInOwl:hasExactSynonym "Chronic myelocytic leukaemia" http://purl.obolibrary.org/obo/hp.obo#uk_spelling +MONDO:0032684 oboInOwl:hasExactSynonym "IMAGE-I syndrome" MONDO:0030087 oboInOwl:hasExactSynonym "diabetes mellitus, permanent neonatal 2" MONDO:0030087 oboInOwl:hasExactSynonym "DIABETES MELLITUS, PERMANENT NEONATAL 2" MONDO:0030087 oboInOwl:hasExactSynonym "Developmental Delay, Epilepsy, and Neonatal Diabetes 1" +MONDO:0030087 oboInOwl:hasExactSynonym "diabetes, permanent neonatal 2, with or without neurologic features" MONDO:0030087 oboInOwl:hasExactSynonym "PNDM2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016357 oboInOwl:hasExactSynonym "Kozlowski-Tsuruta syndrome" MONDO:0015103 oboInOwl:hasExactSynonym "PVA/ADA, Fallot type" @@ -126502,6 +127509,8 @@ MONDO:0018536 oboInOwl:hasExactSynonym "adenocarcinoma of the gallbladder and EB MONDO:0018536 oboInOwl:hasExactSynonym "adenocarcinoma of gallbladder and EBT" MONDO:0018536 oboInOwl:hasExactSynonym "adenocarcinoma of the gallbladder and extrahepatic biliary tract" MONDO:0011703 oboInOwl:hasExactSynonym "spongiform encephalopathy with neuropsychiatric features" +MONDO:0010933 oboInOwl:hasExactSynonym "enlarged vestibular aqueduct" +MONDO:0010933 oboInOwl:hasExactSynonym "enlarged vestibular aqueduct, digenic" NCBITaxon:12730 oboInOwl:hasExactSynonym "Human parainfluenza 1 virus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:12730 oboInOwl:hasExactSynonym "human parainfluenza virus type 1 HPIV-1" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:12730 oboInOwl:hasExactSynonym "Parainfluenza virus type 1" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name @@ -126536,6 +127545,7 @@ MONDO:0003331 oboInOwl:hasExactSynonym "ovarian monodermal teratoma" MONDO:0004574 oboInOwl:hasExactSynonym "pyridoxine Deficincy" MONDO:0004574 oboInOwl:hasExactSynonym "vitamin B6 deficiency syndrome" MONDO:0013887 oboInOwl:hasExactSynonym "heterotaxy, visceral, 6, autosomal" +MONDO:0013887 oboInOwl:hasExactSynonym "heterotaxy, visceral, 6, autosomal recessive" MONDO:0021380 oboInOwl:hasExactSynonym "myocardium neoplasm (disease)" MONDO:0021380 oboInOwl:hasExactSynonym "myocardium neoplasm" MONDO:0021380 oboInOwl:hasExactSynonym "myocardial neoplasm" @@ -126561,15 +127571,16 @@ MONDO:0004411 oboInOwl:hasExactSynonym "gastrin producing tumor of duodenum" MONDO:0004411 oboInOwl:hasExactSynonym "malignant duodenal gastrinoma" MONDO:0004411 oboInOwl:hasExactSynonym "duodenum gastrin-producing neuroendocrine tumor" MONDO:0004411 oboInOwl:hasExactSynonym "gastrinoma of duodenum" -MONDO:0016910 oboInOwl:hasExactSynonym "partial monosomy of the long arm of chromosome 11" -MONDO:0016910 oboInOwl:hasExactSynonym "partial monosomy of chromosome 11q" MONDO:0016910 oboInOwl:hasExactSynonym "del(11q)" +MONDO:0016910 oboInOwl:hasExactSynonym "loss of chromosome 11q" +MONDO:0016910 oboInOwl:hasExactSynonym "partial monosomy of the long arm of chromosome 11" MONDO:0016910 oboInOwl:hasExactSynonym "partial deletion of chromosome 11q" +MONDO:0016910 oboInOwl:hasExactSynonym "partial monosomy of chromosome 11q" MONDO:0016910 oboInOwl:hasExactSynonym "partial deletion of the long arm of chromosome type 11" -MONDO:0016910 oboInOwl:hasExactSynonym "loss of chromosome 11q" MONDO:0010337 oboInOwl:hasExactSynonym "OPHN1 syndrome" MONDO:0010337 oboInOwl:hasExactSynonym "X-linked intellectual disability-cerebellar hypoplasia syndrome" MONDO:0010337 oboInOwl:hasExactSynonym "Oligophrenin-1 syndrome" +MONDO:0010337 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive" MONDO:0005648 oboInOwl:hasExactSynonym "rheumatic aortic regurgitation" MONDO:0005648 oboInOwl:hasExactSynonym "aortic regurgitation" MONDO:0005648 oboInOwl:hasExactSynonym "rheumatic aortic valve insufficiency" @@ -126632,6 +127643,7 @@ GO:1904747 oboInOwl:hasExactSynonym "upregulation of apoptotic process involved GO:1904747 oboInOwl:hasExactSynonym "positive regulation of programmed cell death by apoptosis involved in development of an anatomical structure" GO:1904747 oboInOwl:hasExactSynonym "up regulation of apoptotic process involved in development" GO:0007606 oboInOwl:hasExactSynonym "chemosensory perception" +MONDO:0014952 oboInOwl:hasExactSynonym "neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures" MONDO:0017347 oboInOwl:hasExactSynonym "PBL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017347 oboInOwl:hasExactSynonym "Plasmablastic lymphoma" MONDO:0008532 oboInOwl:hasExactSynonym "teeth present at birth (disease)" @@ -126641,6 +127653,7 @@ MONDO:0012195 oboInOwl:hasExactSynonym "distal arthrogryposis type 4" MONDO:0002188 oboInOwl:hasExactSynonym "nodular hidradenoma of mammalian vulva" MONDO:0002188 oboInOwl:hasExactSynonym "vulvar nodular hidradenoma" MONDO:0002188 oboInOwl:hasExactSynonym "mammalian vulva nodular hidradenoma" +MONDO:0007335 oboInOwl:hasExactSynonym "orofacial cleft-1" MONDO:0007335 oboInOwl:hasExactSynonym "OFC1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007335 oboInOwl:hasExactSynonym "orofacial cleft 1" MONDO:0001822 oboInOwl:hasExactSynonym "hypolipoproteinaemia" @@ -126657,6 +127670,7 @@ HP:0011495 oboInOwl:hasExactSynonym "Abnormality of corneal epithelium" MONDO:0020601 oboInOwl:hasExactSynonym "mosquito-borne viral encephalitis" MONDO:0018725 oboInOwl:hasExactSynonym "dup(7)(q36.3)" MONDO:0018725 oboInOwl:hasExactSynonym "7q36.3 microduplication syndrome" +MONDO:0033557 oboInOwl:hasExactSynonym "immune dysregulation and systemic hyperinflammation syndrome" MONDO:0009973 oboInOwl:hasExactSynonym "De Vaal disease" MONDO:0009973 oboInOwl:hasExactSynonym "severe combined immunodeficiency with leukopenia" MONDO:0009973 oboInOwl:hasExactSynonym "generalized hematopoietic hypoplasia" @@ -126697,6 +127711,7 @@ MONDO:0006206 oboInOwl:hasExactSynonym "carcinoma of the fallopian tube" MONDO:0006206 oboInOwl:hasExactSynonym "carcinoma of fallopian tube" MONDO:0006206 oboInOwl:hasExactSynonym "fallopian tube carcinoma" MONDO:0006206 oboInOwl:hasExactSynonym "fallopian tube cancer" +MONDO:0007764 oboInOwl:hasExactSynonym "hyperostosis, endosteal" MONDO:0007764 oboInOwl:hasExactSynonym "endosteal hyperostosis, Worth type" MONDO:0007764 oboInOwl:hasExactSynonym "Ostéosclérose autosomique dominante type Worth" MONDO:0007764 oboInOwl:hasExactSynonym "Worth syndrome" @@ -126797,7 +127812,9 @@ CL:0007010 oboInOwl:hasExactSynonym "osteoprogenitor cell" MONDO:0044339 oboInOwl:hasExactSynonym "lumbar Disc degenerative disorder" MONDO:0044339 oboInOwl:hasExactSynonym "intervertebral disc degenerative disorder of lumbar region of vertebral column" MONDO:0044339 oboInOwl:hasExactSynonym "lumbar Disc degenerative disease" +MONDO:0044339 oboInOwl:hasExactSynonym "intervertebral disc disease, susceptibility to" MONDO:0044339 oboInOwl:hasExactSynonym "degeneration of lumbar intervertebral disc" +MONDO:0044339 oboInOwl:hasExactSynonym "lumbar disc disease, susceptibility to" MONDO:0044339 oboInOwl:hasExactSynonym "lumbar region of vertebral column intervertebral disc degenerative disorder" MONDO:0044339 oboInOwl:hasExactSynonym "lumbar Disc Degeneration" MONDO:0003995 oboInOwl:hasExactSynonym "childhood sarcoma Botryoides of the vulva" @@ -126818,10 +127835,12 @@ MONDO:0005156 oboInOwl:hasExactSynonym "central nervous system inflammation" MONDO:0005156 oboInOwl:hasExactSynonym "inflammation of central nervous system" MONDO:0005156 oboInOwl:hasExactSynonym "encephalitis &/or myelitis" MONDO:0005156 oboInOwl:hasExactSynonym "encephalitis and/or myelitis" +MONDO:0014014 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive" MONDO:0014014 oboInOwl:hasExactSynonym "EBS-AR exophilin 5" MONDO:0014014 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex due to exophilin 5 deficiency" MONDO:0010502 oboInOwl:hasExactSynonym "MRXS99F" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010502 oboInOwl:hasExactSynonym "X-linked syndromic intellectual disability caused by mutation in USP9X" +MONDO:0010502 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 99, syndromic, female-restricted, X-linked dominant" MONDO:0010502 oboInOwl:hasExactSynonym "USP9X X-linked syndromic intellectual disability" MONDO:0010502 oboInOwl:hasExactSynonym "mental retardation, X-linked 99, syndromic, female-restricted" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010502 oboInOwl:hasExactSynonym "intellectual disability, X-linked 99, syndromic, female-restricted" @@ -126965,12 +127984,14 @@ MONDO:0002404 oboInOwl:hasExactSynonym "liver hemangioma" MONDO:0002404 oboInOwl:hasExactSynonym "hemangioma of liver" MONDO:0002404 oboInOwl:hasExactSynonym "hepatic angioma" MONDO:0002404 oboInOwl:hasExactSynonym "angioma of liver" +MONDO:0010250 oboInOwl:hasExactSynonym "raynaud-claes syndrome, X-linked dominant" MONDO:0010250 oboInOwl:hasExactSynonym "intellectual disability, X-linked 49" MONDO:0010250 oboInOwl:hasExactSynonym "MRX49" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0022402 oboInOwl:hasExactSynonym "type I lissencephaly" MONDO:0022402 oboInOwl:hasExactSynonym "Bielchowsky type of lissencephaly" MONDO:0010893 oboInOwl:hasExactSynonym "malignant hyperthermia, susceptibility to, 4" MONDO:0010893 oboInOwl:hasExactSynonym "malignant hyperthermia, susceptibility to, type 4" +MONDO:0010893 oboInOwl:hasExactSynonym "malignant hyperthermia susceptibility 4" MONDO:0012746 oboInOwl:hasExactSynonym "CMD2A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012746 oboInOwl:hasExactSynonym "dilated cardiomyopathy type 2A" MONDO:0012746 oboInOwl:hasExactSynonym "cardiomyopathy, dilated, type 2A" @@ -126996,9 +128017,9 @@ GO:0048585 oboInOwl:hasExactSynonym "down regulation of response to stimulus" GO:0048585 oboInOwl:hasExactSynonym "down-regulation of response to stimulus" GO:0048585 oboInOwl:hasExactSynonym "downregulation of response to stimulus" HsapDv:0000082 oboInOwl:hasExactSynonym "0-1 month" -MONDO:0020835 oboInOwl:hasExactSynonym "methemoglobinemia, alpha type" MONDO:0001645 oboInOwl:hasExactSynonym "crescentic glomerulonephritis" MONDO:0001645 oboInOwl:hasExactSynonym "crescentic glomerulonephritis (disease)" +MONDO:0020835 oboInOwl:hasExactSynonym "methemoglobinemia, alpha type" MONDO:0014413 oboInOwl:hasExactSynonym "microcephaly-cerebral malformation-orofaciodigital syndrome" MONDO:0014413 oboInOwl:hasExactSynonym "orofaciodigital syndrome caused by mutation in C2CD3" MONDO:0014413 oboInOwl:hasExactSynonym "OFD14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -127016,9 +128037,9 @@ MONDO:0006029 oboInOwl:hasExactSynonym "cecum carcinoma" MONDO:0006029 oboInOwl:hasExactSynonym "caecum carcinoma" MONDO:0006029 oboInOwl:hasExactSynonym "carcinoma of cecum" MONDO:0007587 oboInOwl:hasExactSynonym "Rasmussen-Johnsen-Thomsen syndrome" -MONDO:0043452 oboInOwl:hasExactSynonym "trisomy 8" MONDO:0000518 oboInOwl:hasExactSynonym "chordoma (disease) of fused sacrum" MONDO:0000518 oboInOwl:hasExactSynonym "fused sacrum chordoma (disease)" +MONDO:0043452 oboInOwl:hasExactSynonym "trisomy 8" MONDO:0041903 oboInOwl:hasExactSynonym "gonococcal infection of joint" UBERON:0001911 oboInOwl:hasExactSynonym "lactiferous gland" UBERON:0001911 oboInOwl:hasExactSynonym "glandula mammaria" @@ -127033,12 +128054,14 @@ MONDO:0010504 oboInOwl:hasExactSynonym "immunodeficiency 47" MONDO:0010504 oboInOwl:hasExactSynonym "immunodeficiency 47; IMD47" MONDO:0010504 oboInOwl:hasExactSynonym "ATP6AP1 primary immunodeficiency disease" MONDO:0010504 oboInOwl:hasExactSynonym "primary immunodeficiency disease caused by mutation in ATP6AP1" +MONDO:0010504 oboInOwl:hasExactSynonym "immunodeficiency 47, X-linked recessive" MONDO:0010504 oboInOwl:hasExactSynonym "immunodeficiency type 47" MONDO:0010504 oboInOwl:hasExactSynonym "IMD47" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032725 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74" MONDO:0032725 oboInOwl:hasExactSynonym "DEE74" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032725 oboInOwl:hasExactSynonym "EIEE74" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032725 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 74" +MONDO:0032725 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 74" MONDO:0019538 oboInOwl:hasExactSynonym "stress polycythemia" MONDO:0019538 oboInOwl:hasExactSynonym "Gaisbock's syndrome" MONDO:0019538 oboInOwl:hasExactSynonym "polycythemia, emotional" @@ -127125,6 +128148,11 @@ MONDO:0021235 oboInOwl:hasExactSynonym "tumor of external Ear" GO:0009235 oboInOwl:hasExactSynonym "vitamin B12 metabolism" GO:0009235 oboInOwl:hasExactSynonym "vitamin B12 metabolic process" GO:0009235 oboInOwl:hasExactSynonym "cobalamin metabolism" +MONDO:0012525 oboInOwl:hasExactSynonym "LCA12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012525 oboInOwl:hasExactSynonym "RD3 Leber congenital amaurosis" +MONDO:0012525 oboInOwl:hasExactSynonym "Leber congenital amaurosis type 12" +MONDO:0012525 oboInOwl:hasExactSynonym "Leber congenital amaurosis caused by mutation in RD3" +MONDO:0012525 oboInOwl:hasExactSynonym "Leber congenital amaurosis 12" MONDO:0019391 oboInOwl:hasExactSynonym "pancytopenia, congenital" MONDO:0019391 oboInOwl:hasExactSynonym "primary erythroid hypoplasia" MONDO:0019391 oboInOwl:hasExactSynonym "Fanconi's anemia" @@ -127132,11 +128160,6 @@ MONDO:0019391 oboInOwl:hasExactSynonym "Fanconi anemia" MONDO:0019391 oboInOwl:hasExactSynonym "Fanconi panmyelopathy" MONDO:0019391 oboInOwl:hasExactSynonym "Fanconi pancytopenia" MONDO:0019391 oboInOwl:hasExactSynonym "Panmyelopathy, Fanconi" -MONDO:0012525 oboInOwl:hasExactSynonym "LCA12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012525 oboInOwl:hasExactSynonym "RD3 Leber congenital amaurosis" -MONDO:0012525 oboInOwl:hasExactSynonym "Leber congenital amaurosis type 12" -MONDO:0012525 oboInOwl:hasExactSynonym "Leber congenital amaurosis caused by mutation in RD3" -MONDO:0012525 oboInOwl:hasExactSynonym "Leber congenital amaurosis 12" MONDO:0019220 oboInOwl:hasExactSynonym "inborn disorder of cobalamin metabolism and transport" MONDO:0000499 oboInOwl:hasExactSynonym "nonarteritic anterior ischemic optic neuropathy" MONDO:0000499 oboInOwl:hasExactSynonym "NAION" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -127227,6 +128250,7 @@ MONDO:0014016 oboInOwl:hasExactSynonym "hereditary spastic paraplegia 49" MONDO:0014016 oboInOwl:hasExactSynonym "autosomal recessive spastic paraplegia 49" MONDO:0014016 oboInOwl:hasExactSynonym "SPG49" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014016 oboInOwl:hasExactSynonym "hereditary spastic paraplegia type 49" +MONDO:0014016 oboInOwl:hasExactSynonym "neuropathy, hereditary sensory and autonomic, type IX, with developmental delay" MONDO:0014016 oboInOwl:hasExactSynonym "hereditary spastic paraplegia caused by mutation in TECPR2" MONDO:0014016 oboInOwl:hasExactSynonym "TECPR2 hereditary spastic paraplegia" MONDO:0003293 oboInOwl:hasExactSynonym "leiomyoma of the lung" @@ -127258,6 +128282,7 @@ MONDO:0007251 oboInOwl:hasExactSynonym "CMD" http://purl.obolibrary.org/obo/mond NCBITaxon:34609 oboInOwl:hasExactSynonym "Gulf Coast tick" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name MONDO:0032880 oboInOwl:hasExactSynonym "DEE82" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032880 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82" +MONDO:0032880 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 82" MONDO:0032880 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 82" MONDO:0032880 oboInOwl:hasExactSynonym "EIEE82" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015470 oboInOwl:hasExactSynonym "familial isolated dilated cardiomyopathy" @@ -127268,6 +128293,7 @@ MONDO:0011475 oboInOwl:hasExactSynonym "CMT4B2" http://purl.obolibrary.org/obo/m MONDO:0011475 oboInOwl:hasExactSynonym "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2" MONDO:0011475 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2" MONDO:0011475 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 4B2" +MONDO:0014698 oboInOwl:hasExactSynonym "neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities" MONDO:0014698 oboInOwl:hasExactSynonym "microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome" MONDO:0013675 oboInOwl:hasExactSynonym "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3" MONDO:0013675 oboInOwl:hasExactSynonym "multiple mitochondrial dysfunctions syndrome type 2" @@ -127284,20 +128310,24 @@ MONDO:0018044 oboInOwl:hasExactSynonym "primary hypersomnia" MONDO:0012527 oboInOwl:hasExactSynonym "CTRCT11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012527 oboInOwl:hasExactSynonym "PITX3 early-onset non-syndromic cataract" MONDO:0012527 oboInOwl:hasExactSynonym "early-onset non-syndromic cataract caused by mutation in PITX3" +MONDO:0012527 oboInOwl:hasExactSynonym "cataract 11, syndromic, autosomal recessive" MONDO:0007134 oboInOwl:hasExactSynonym "ODP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007134 oboInOwl:hasExactSynonym "Cooks syndrome" MONDO:0007134 oboInOwl:hasExactSynonym "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome" NCBITaxon:11292 oboInOwl:hasExactSynonym "Rabies virus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name GO:0031305 oboInOwl:hasExactSynonym "integral to mitochondrial inner membrane" +MONDO:0010463 oboInOwl:hasExactSynonym "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant" MONDO:0010463 oboInOwl:hasExactSynonym "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome" MONDO:0013862 oboInOwl:hasExactSynonym "immunodeficiency, common variable, type 7" MONDO:0013862 oboInOwl:hasExactSynonym "immunodeficiency, common variable, 7" MONDO:0019569 oboInOwl:hasExactSynonym "Cockayne syndrome A" MONDO:0019569 oboInOwl:hasExactSynonym "ERCC8 Cockayne syndrome" +MONDO:0019569 oboInOwl:hasExactSynonym "Cockayne syndrome, type A" MONDO:0019569 oboInOwl:hasExactSynonym "Cockayne syndrome type a" MONDO:0019569 oboInOwl:hasExactSynonym "Cockayne syndrome type I" MONDO:0019569 oboInOwl:hasExactSynonym "Cockayne syndrome caused by mutation in ERCC8" MONDO:0019569 oboInOwl:hasExactSynonym "Cockayne syndrome type 1" +MONDO:0010569 oboInOwl:hasExactSynonym "corpus callosum, partial agenesis of, X-linked recessive" MONDO:0017285 oboInOwl:hasExactSynonym "penoscrotal transposition" MONDO:0017285 oboInOwl:hasExactSynonym "penoscrotal transposition (disease)" MONDO:0017285 oboInOwl:hasExactSynonym "congenital penoscrotal transposition" @@ -127367,6 +128397,7 @@ GO:0032108 oboInOwl:hasExactSynonym "down regulation of response to nutrient lev GO:0032108 oboInOwl:hasExactSynonym "downregulation of response to nutrient levels" MONDO:0013107 oboInOwl:hasExactSynonym "atopic dermatitis type 7" MONDO:0013107 oboInOwl:hasExactSynonym "ATOD7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013107 oboInOwl:hasExactSynonym "dermatitis, atopic, susceptibility to, 7" NCBITaxon:11103 oboInOwl:hasExactSynonym "post-transfusion hepatitis non A non B virus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:11103 oboInOwl:hasExactSynonym "Hepatitis C virus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:11103 oboInOwl:hasExactSynonym "human hepatitis C virus HCV" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name @@ -127421,6 +128452,7 @@ MONDO:0030088 oboInOwl:hasExactSynonym "Developmental Delay, Epilepsy, and Neona MONDO:0030088 oboInOwl:hasExactSynonym "diabetes mellitus, permanent neonatal 3" MONDO:0030088 oboInOwl:hasExactSynonym "DIABETES MELLITUS, PERMANENT NEONATAL 3" MONDO:0030088 oboInOwl:hasExactSynonym "PNDM3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0030088 oboInOwl:hasExactSynonym "diabetes mellitus, permanent neonatal 3, with or without neurologic features" MONDO:0015730 oboInOwl:hasExactSynonym "Mosaic trisomy type 17" MONDO:0015730 oboInOwl:hasExactSynonym "Mosaic trisomy chromosome 17" MONDO:0015730 oboInOwl:hasExactSynonym "trisomy 17 mosaicism" @@ -127435,14 +128467,15 @@ MONDO:0007030 oboInOwl:hasExactSynonym "Aarskog-Scott syndrome" GO:0016068 oboInOwl:hasExactSynonym "immediate hypersensitivity response" MONDO:0001654 oboInOwl:hasExactSynonym "malignant spermatic cord neoplasm" MONDO:0001654 oboInOwl:hasExactSynonym "malignant neoplasm of the spermatic cord" +MONDO:0001654 oboInOwl:hasExactSynonym "spermatic cord cancer" MONDO:0001654 oboInOwl:hasExactSynonym "malignant spermatic cord tumor" MONDO:0001654 oboInOwl:hasExactSynonym "spermatic cord Ca" -MONDO:0001654 oboInOwl:hasExactSynonym "spermatic cord cancer" MONDO:0001654 oboInOwl:hasExactSynonym "malignant neoplasm of spermatic cord" MONDO:0001654 oboInOwl:hasExactSynonym "malignant tumor of the spermatic cord" MONDO:0001654 oboInOwl:hasExactSynonym "cancer of spermatic cord" MONDO:0001654 oboInOwl:hasExactSynonym "malignant tumor of spermatic cord" MONDO:0007557 oboInOwl:hasExactSynonym "epidermolysis bullosa with congenital localized absence of skin and deformity of nails" +MONDO:0007557 oboInOwl:hasExactSynonym "EBD, Bart type" MONDO:0009460 oboInOwl:hasExactSynonym "indolylacroyl glycinuria with mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0009460 oboInOwl:hasExactSynonym "indolylacroyl glycinuria with intellectual disability" MONDO:0011683 oboInOwl:hasExactSynonym "oculocutaneous albinism caused by mutation in SLC45A2" @@ -127457,8 +128490,9 @@ MONDO:0011336 oboInOwl:hasExactSynonym "hemophagocytic lymphohistiocytosis, fami MONDO:0011336 oboInOwl:hasExactSynonym "familial hemophagocytic lymphohistiocytosis type 4" MONDO:0011336 oboInOwl:hasExactSynonym "FHL4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCBITaxon:2497569 oboInOwl:hasExactSynonym "Negative-strand RNA viruses" http://purl.obolibrary.org/obo/ncbitaxon#common_name -MONDO:0011704 oboInOwl:hasExactSynonym "glaucoma 1, open angle, B" +MONDO:0011704 oboInOwl:hasExactSynonym "glaucoma 1B, primary open angle, adult onset" MONDO:0011704 oboInOwl:hasExactSynonym "GLC1B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011704 oboInOwl:hasExactSynonym "glaucoma 1, open angle, B" GO:0042487 oboInOwl:hasExactSynonym "regulation of odontogenesis of dentine-containing tooth" GO:0042487 oboInOwl:hasExactSynonym "regulation of odontogenesis of dentine-containing teeth" MONDO:0020600 oboInOwl:hasExactSynonym "acute pharyngitis" @@ -127514,6 +128548,8 @@ MONDO:0003215 oboInOwl:hasExactSynonym "malignant apocrine tumor of the skin" MONDO:0003215 oboInOwl:hasExactSynonym "malignant apocrine skin neoplasm" MONDO:0003215 oboInOwl:hasExactSynonym "malignant apocrine tumor of skin" MONDO:0003215 oboInOwl:hasExactSynonym "malignant apocrine sweat gland neoplasm" +MONDO:0009076 oboInOwl:hasExactSynonym "deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant" +MONDO:0009076 oboInOwl:hasExactSynonym "deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant" MONDO:0030506 oboInOwl:hasExactSynonym "ODG9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT:C19683 oboInOwl:hasExactSynonym "Personal Conduct" NCIT:C19683 oboInOwl:hasExactSynonym "Personal Behavior" @@ -127528,6 +128564,7 @@ MONDO:0001433 oboInOwl:hasExactSynonym "disease or disorder of vagina" MONDO:0007336 oboInOwl:hasExactSynonym "nonsyndromic cleft palate" MONDO:0007336 oboInOwl:hasExactSynonym "isolated cleft palate" MONDO:0018903 oboInOwl:hasExactSynonym "sarcosporidiosis" +MONDO:0013888 oboInOwl:hasExactSynonym "essential tremor, hereditary, 4" MONDO:0013888 oboInOwl:hasExactSynonym "essential tremor caused by mutation in FUS" MONDO:0013888 oboInOwl:hasExactSynonym "FUS essential tremor" MONDO:0013888 oboInOwl:hasExactSynonym "tremor, hereditary essential, type 4" @@ -127551,6 +128588,9 @@ GO:0008211 oboInOwl:hasExactSynonym "glucocorticosteroid metabolic process" GO:0008211 oboInOwl:hasExactSynonym "glucocorticoid metabolism" MONDO:0005649 oboInOwl:hasExactSynonym "vermiform appendix inflammation" MONDO:0005649 oboInOwl:hasExactSynonym "inflammation of vermiform appendix" +MONDO:0009100 oboInOwl:hasExactSynonym "type 1 diabetes mellitus" +MONDO:0009100 oboInOwl:hasExactSynonym "diabetes, type 1, susceptibility to" +MONDO:0009100 oboInOwl:hasExactSynonym "diabetes mellitus, insulin-dependent-1" MONDO:0018257 oboInOwl:hasExactSynonym "hereditary syringomyelia" ENVO:09200001 oboInOwl:hasExactSynonym "air temperature" MONDO:0000421 oboInOwl:hasExactSynonym "rare inborn error of L-serine biosynthetic process" @@ -127595,6 +128635,7 @@ MONDO:0006292 oboInOwl:hasExactSynonym "advanced malignant mesothelioma" MONDO:0006292 oboInOwl:hasExactSynonym "malignant mesothelioma" MONDO:0006292 oboInOwl:hasExactSynonym "malignant neoplasm of the mesothelium" MONDO:0006292 oboInOwl:hasExactSynonym "malignant tumor of mesothelium" +MONDO:0006292 oboInOwl:hasExactSynonym "mesothelioma, somatic" MONDO:0006292 oboInOwl:hasExactSynonym "malignant mesothelial neoplasm" MONDO:0001823 oboInOwl:hasExactSynonym "SSS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001823 oboInOwl:hasExactSynonym "sinus node infection" @@ -127612,10 +128653,12 @@ MONDO:0006207 oboInOwl:hasExactSynonym "fallopian tube malignant mixed Mullerian MONDO:0006207 oboInOwl:hasExactSynonym "fallopian tube malignant mixed mesodermal (mullerian) tumor" MONDO:0007765 oboInOwl:hasExactSynonym "hyperostosis cranialis interna" MONDO:0007765 oboInOwl:hasExactSynonym "hyperostosis cranialis interna (disease)" +MONDO:0007765 oboInOwl:hasExactSynonym "hyperostosis cranalis interna" MONDO:0014375 oboInOwl:hasExactSynonym "diarrhea type 7" MONDO:0014375 oboInOwl:hasExactSynonym "congenital chronic diarrhea with protein-losing enteropathy" MONDO:0014375 oboInOwl:hasExactSynonym "congenital chronic diarrhea with exudative enteropathy" MONDO:0014375 oboInOwl:hasExactSynonym "DGAT1 congenital diarrhea" +MONDO:0014375 oboInOwl:hasExactSynonym "diarrhea 7, protein-losing enteropathy type" MONDO:0014375 oboInOwl:hasExactSynonym "congenital diarrhea caused by mutation in DGAT1" MONDO:0009321 oboInOwl:hasExactSynonym "Kleiner-Holmes syndrome" MONDO:0020602 oboInOwl:hasExactSynonym "SGBS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -127624,12 +128667,14 @@ MONDO:0020602 oboInOwl:hasExactSynonym "Simpson-Golabi-Behmel syndrome caused by MONDO:0020602 oboInOwl:hasExactSynonym "bulldog syndrome" MONDO:0020602 oboInOwl:hasExactSynonym "Simpson dysmorphia syndrome" MONDO:0020602 oboInOwl:hasExactSynonym "Simpson-Golabi-Behmel syndrome type 1" +MONDO:0020602 oboInOwl:hasExactSynonym "Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive" MONDO:0020602 oboInOwl:hasExactSynonym "GPC3 Simpson-Golabi-Behmel syndrome" ECTO:7000070 oboInOwl:hasExactSynonym "snow exposure" GO:0010954 oboInOwl:hasExactSynonym "positive regulation of protein maturation by peptide bond cleavage" MONDO:0014212 oboInOwl:hasExactSynonym "molybdenum cofactor deficiency complementation group C" MONDO:0014212 oboInOwl:hasExactSynonym "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C" MONDO:0014212 oboInOwl:hasExactSynonym "MOCOD type C" +MONDO:0014212 oboInOwl:hasExactSynonym "molybdenum cofactor deficiency C" MONDO:0014212 oboInOwl:hasExactSynonym "molybdenum cofactor deficiency, complementation group type C" MONDO:0014212 oboInOwl:hasExactSynonym "MOCODC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004163 oboInOwl:hasExactSynonym "bladder urachal urothelial carcinoma" @@ -127641,9 +128686,17 @@ GO:0043069 oboInOwl:hasExactSynonym "downregulation of programmed cell death" GO:0043069 oboInOwl:hasExactSynonym "down-regulation of programmed cell death" MONDO:0015440 oboInOwl:hasExactSynonym "rose cluster 6" MONDO:0015440 oboInOwl:hasExactSynonym "Ring chromosome type 6" +MONDO:0019182 oboInOwl:hasExactSynonym "obesity, severe, and type II diabetes, Autosomal recessive" MONDO:0019182 oboInOwl:hasExactSynonym "monogenic obesity" +MONDO:0019182 oboInOwl:hasExactSynonym "obesity, association with, Autosomal recessive" +MONDO:0019182 oboInOwl:hasExactSynonym "obesity, severe, Autosomal recessive" +MONDO:0019182 oboInOwl:hasExactSynonym "leanness, inherited, autosomal recessive" MONDO:0019182 oboInOwl:hasExactSynonym "genetic obesity (disease)" +MONDO:0019182 oboInOwl:hasExactSynonym "obesity, late-onset, Autosomal recessive" +MONDO:0019182 oboInOwl:hasExactSynonym "obesity, mild, early-onset, Autosomal recessive" +MONDO:0019182 oboInOwl:hasExactSynonym "obesity, susceptibility to, Autosomal recessive" MONDO:0019182 oboInOwl:hasExactSynonym "genetic obesity" +MONDO:0019182 oboInOwl:hasExactSynonym "obesity, early-onset, susceptibility to, Autosomal recessive" MONDO:0024363 oboInOwl:hasExactSynonym "repeated rapid eye movement sleep interruptions" MONDO:0003638 oboInOwl:hasExactSynonym "lung meningioma" MONDO:0003638 oboInOwl:hasExactSynonym "lung meningioma (disease)" @@ -127675,6 +128728,7 @@ MONDO:0003996 oboInOwl:hasExactSynonym "disease of basal ganglia" MONDO:0003996 oboInOwl:hasExactSynonym "basal ganglia disease" MONDO:0003996 oboInOwl:hasExactSynonym "disease of collection of basal ganglia" MONDO:0003996 oboInOwl:hasExactSynonym "disease or disorder of collection of basal ganglia" +MONDO:0024550 oboInOwl:hasExactSynonym "frontometaphyseal dysplasia 1, X-linked recessive" MONDO:0024550 oboInOwl:hasExactSynonym "FLNA frontometaphyseal dysplasia" MONDO:0024550 oboInOwl:hasExactSynonym "frontometaphyseal dysplasia caused by mutation in FLNA" CL:0000029 oboInOwl:hasExactSynonym "neuron neural crest derived" @@ -127686,6 +128740,7 @@ MONDO:0100382 oboInOwl:hasExactSynonym "AML, t(6;9)(p22.3;q34.1)" MONDO:0100382 oboInOwl:hasExactSynonym "AML, t(6;9)(p22;q34)" MONDO:0100382 oboInOwl:hasExactSynonym "AML, t(6;9)(p23;q34.1)" HP:0000526 oboInOwl:hasExactSynonym "Absent iris" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0008136 oboInOwl:hasExactSynonym "optic nerve hypoplasia" MONDO:0009694 oboInOwl:hasExactSynonym "MPO deficiency" MONDO:0009694 oboInOwl:hasExactSynonym "myeloperoxidase deficiency" MONDO:0017127 oboInOwl:hasExactSynonym "genetic mesenchymal cell neoplasm" @@ -127773,8 +128828,8 @@ MONDO:0001825 oboInOwl:hasExactSynonym "squamous papilloma" MONDO:0001825 oboInOwl:hasExactSynonym "epidermoid papilloma" MONDO:0001825 oboInOwl:hasExactSynonym "squamous cell papilloma" MONDO:0001825 oboInOwl:hasExactSynonym "keratotic papilloma" -MONDO:0016430 oboInOwl:hasExactSynonym "concentric demyelination" MONDO:0016430 oboInOwl:hasExactSynonym "Balo's concentric sclerosis" +MONDO:0016430 oboInOwl:hasExactSynonym "concentric demyelination" MONDO:0016430 oboInOwl:hasExactSynonym "Balo concentric sclerosis" MONDO:0011391 oboInOwl:hasExactSynonym "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts" MONDO:0011391 oboInOwl:hasExactSynonym "MLC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -127818,6 +128873,7 @@ MONDO:0002405 oboInOwl:hasExactSynonym "liver vascular disorder" MONDO:0002405 oboInOwl:hasExactSynonym "hepatic vascular disorder" MONDO:0002405 oboInOwl:hasExactSynonym "vascular disorder of liver" MONDO:0010251 oboInOwl:hasExactSynonym "intellectual disability, X-linked 50" +MONDO:0010251 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 50" MONDO:0010251 oboInOwl:hasExactSynonym "MRX50" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000903 oboInOwl:hasExactSynonym "hereditary essential myoclonus" MONDO:0000903 oboInOwl:hasExactSynonym "myoclonic dystonia" @@ -127847,6 +128903,7 @@ GO:0051784 oboInOwl:hasExactSynonym "down-regulation of nuclear division" GO:0051784 oboInOwl:hasExactSynonym "down regulation of nuclear division" GO:0051784 oboInOwl:hasExactSynonym "downregulation of nuclear division" MONDO:0011653 oboInOwl:hasExactSynonym "NMTC3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011653 oboInOwl:hasExactSynonym "thyroid carcinoma, nonmedullary, 3" MONDO:0011653 oboInOwl:hasExactSynonym "thyroid cancer, nonmedullary, 3" MONDO:0003846 oboInOwl:hasExactSynonym "viral esophagitis" MONDO:0003846 oboInOwl:hasExactSynonym "Viruses caused esophagitis (disease)" @@ -127885,13 +128942,14 @@ GO:1904410 oboInOwl:hasExactSynonym "downregulation of secretory granule organiz GO:1904410 oboInOwl:hasExactSynonym "downregulation of secretory granule organisation" GO:1904410 oboInOwl:hasExactSynonym "negative regulation of secretory granule organisation" GO:1904410 oboInOwl:hasExactSynonym "down regulation of secretory granule organisation" -MONDO:0010894 oboInOwl:hasExactSynonym "MODY3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010894 oboInOwl:hasExactSynonym "HNF1A maturity-onset diabetes of the young (disease)" -MONDO:0010894 oboInOwl:hasExactSynonym "hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes" MONDO:0010894 oboInOwl:hasExactSynonym "HNF1A-associated monogenic diabetes" +MONDO:0010894 oboInOwl:hasExactSynonym "MODY3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010894 oboInOwl:hasExactSynonym "maturity-onset diabetes of the young type 3" +MONDO:0010894 oboInOwl:hasExactSynonym "hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes" MONDO:0010894 oboInOwl:hasExactSynonym "maturity-onset diabetes of the young (disease) caused by mutation in HNF1A" MONDO:0010894 oboInOwl:hasExactSynonym "MODY type 3" +MONDO:0010894 oboInOwl:hasExactSynonym "MODY, type III" HP:0002573 oboInOwl:hasExactSynonym "Rectal bleeding" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0006147 oboInOwl:hasExactSynonym "chronic eosinophilic leukemia/hypereosinophilic syndrome" MONDO:0006147 oboInOwl:hasExactSynonym "CEL/hypereosinophilic syndrome" @@ -127945,9 +129003,11 @@ HP:0003202 oboInOwl:hasExactSynonym "Muscle hypotrophy" HP:0003202 oboInOwl:hasExactSynonym "Muscular atrophy" HP:0003202 oboInOwl:hasExactSynonym "Amyotrophy" MONDO:0009406 oboInOwl:hasExactSynonym "Cantu syndrome" +MONDO:0009406 oboInOwl:hasExactSynonym "hypertrichotic osteochondrodysplasia (Cantu syndrome)" GO:0051051 oboInOwl:hasExactSynonym "downregulation of transport" GO:0051051 oboInOwl:hasExactSynonym "down-regulation of transport" GO:0051051 oboInOwl:hasExactSynonym "down regulation of transport" +MONDO:0013069 oboInOwl:hasExactSynonym "optic atrophy 7" MONDO:0018865 oboInOwl:hasExactSynonym "keratosis palmoplantaris varians of Wachters" MONDO:0018865 oboInOwl:hasExactSynonym "keratosis palmoplantaris striata" MONDO:0018865 oboInOwl:hasExactSynonym "keratosis palmoplantaris striata et areata" @@ -127961,7 +129021,6 @@ MONDO:0004217 oboInOwl:hasExactSynonym "germinoma of childhood brain" MONDO:0004217 oboInOwl:hasExactSynonym "pediatric brain germ cell cancer" MONDO:0004217 oboInOwl:hasExactSynonym "germinoma of the childhood brain" MONDO:0004217 oboInOwl:hasExactSynonym "brain germinoma of childhood" -MONDO:0005775 oboInOwl:hasExactSynonym "G6PD deficiency" MONDO:0005775 oboInOwl:hasExactSynonym "inborn glucose-6-phosphate dehydrogenase activity disorder" MONDO:0005775 oboInOwl:hasExactSynonym "G6PD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005775 oboInOwl:hasExactSynonym "inborn error of glucose-6-phosphate dehydrogenase activity" @@ -127970,6 +129029,7 @@ MONDO:0005775 oboInOwl:hasExactSynonym "rare inborn error of glucose-6-phosphate MONDO:0005775 oboInOwl:hasExactSynonym "G-6-PD variant enzyme deficiency Anemia" MONDO:0005775 oboInOwl:hasExactSynonym "glucose-6-phosphate dehydrogenase deficiency" MONDO:0005775 oboInOwl:hasExactSynonym "glucosephosphate dehydrogenase deficiency" +MONDO:0005775 oboInOwl:hasExactSynonym "G6PD deficiency" HP:0002981 oboInOwl:hasExactSynonym "Abnormality of the calf" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0011308 oboInOwl:hasExactSynonym "Fellman disease" MONDO:0011308 oboInOwl:hasExactSynonym "Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" @@ -128020,6 +129080,7 @@ MONDO:0000023 oboInOwl:hasExactSynonym "infantile liver failure syndrome" MONDO:0012526 oboInOwl:hasExactSynonym "HAE-III" MONDO:0012526 oboInOwl:hasExactSynonym "hereditary angioedema type 3" MONDO:0012526 oboInOwl:hasExactSynonym "F12 hereditary angioedema" +MONDO:0012526 oboInOwl:hasExactSynonym "angioedema, hereditary, 3" MONDO:0012526 oboInOwl:hasExactSynonym "hereditary angioneurotic edema type 3" MONDO:0012526 oboInOwl:hasExactSynonym "inherited estrogen-associated angioedema" MONDO:0012526 oboInOwl:hasExactSynonym "inherited estrogen-associated angioneurotic edema" @@ -128075,9 +129136,10 @@ MONDO:0002679 oboInOwl:hasExactSynonym "infarction, cerebral" MONDO:0002679 oboInOwl:hasExactSynonym "cerebral ischemia" MONDO:0002679 oboInOwl:hasExactSynonym "cerebral infarct" MONDO:0002679 oboInOwl:hasExactSynonym "brain infarction of telencephalon" -MONDO:0010568 oboInOwl:hasExactSynonym "corpus callosum agenesis of with chorioretinal abnormality" -MONDO:0010568 oboInOwl:hasExactSynonym "Aicardi syndrome" MONDO:0010568 oboInOwl:hasExactSynonym "agenesis of corpus callosum with chorioretinal abnormality" +MONDO:0010568 oboInOwl:hasExactSynonym "Aicardi syndrome" +MONDO:0010568 oboInOwl:hasExactSynonym "Aicardi syndrome, X-linked dominant" +MONDO:0010568 oboInOwl:hasExactSynonym "corpus callosum agenesis of with chorioretinal abnormality" HP:0000223 oboInOwl:hasExactSynonym "Abnormality of taste sensation" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0004625 oboInOwl:hasExactSynonym "vein inflammation" MONDO:0004625 oboInOwl:hasExactSynonym "inflammation of vein" @@ -128098,6 +129160,7 @@ HP:0025270 oboInOwl:hasExactSynonym "Abnormality of oesophagus physiology" http: HP:0025270 oboInOwl:hasExactSynonym "Functional abnormality of the esophagus" MONDO:0013258 oboInOwl:hasExactSynonym "autism, susceptibility to, 16" MONDO:0013258 oboInOwl:hasExactSynonym "autism, susceptibility to, type 16" +MONDO:0013258 oboInOwl:hasExactSynonym "autism susceptibility 16" MONDO:0012235 oboInOwl:hasExactSynonym "SCAR7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012235 oboInOwl:hasExactSynonym "autosomal recessive spinocerebellar ataxia type 7" MONDO:0012235 oboInOwl:hasExactSynonym "spinocerebellar ataxia, autosomal recessive type 7" @@ -128133,6 +129196,7 @@ MONDO:0003294 oboInOwl:hasExactSynonym "leiomyoma of pericardium" MONDO:0011476 oboInOwl:hasExactSynonym "immunodeficiency by defective expression of HLA class type 1" MONDO:0011476 oboInOwl:hasExactSynonym "HLA CLASS I deficiency" MONDO:0011476 oboInOwl:hasExactSynonym "Bare lymphocyte syndrome type 1" +MONDO:0011476 oboInOwl:hasExactSynonym "bare lymphocyte syndrome, type I, due to TAP2 deficiency" MONDO:0011476 oboInOwl:hasExactSynonym "BLS, type I" MONDO:0011476 oboInOwl:hasExactSynonym "immunodeficiency by defective expression of HLA class 1" MONDO:0011476 oboInOwl:hasExactSynonym "bare lymphocyte syndrome type I" @@ -128181,6 +129245,7 @@ MONDO:0010074 oboInOwl:hasExactSynonym "BCYM1B" http://purl.obolibrary.org/obo/m MONDO:0011020 oboInOwl:hasExactSynonym "Hernández-Fragoso syndrome" MONDO:0011020 oboInOwl:hasExactSynonym "OOCHS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010464 oboInOwl:hasExactSynonym "X-linked intellectual disability, Kroes type" +MONDO:0010464 oboInOwl:hasExactSynonym "cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive" GO:0005978 oboInOwl:hasExactSynonym "glycogen synthesis" GO:0005978 oboInOwl:hasExactSynonym "glycogen formation" GO:0005978 oboInOwl:hasExactSynonym "glycogen biosynthesis" @@ -128201,6 +129266,7 @@ MONDO:0020659 oboInOwl:hasExactSynonym "transitional cell carcinoma of the upper MONDO:0020659 oboInOwl:hasExactSynonym "UTUC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020659 oboInOwl:hasExactSynonym "transitional cell carcinoma of the pelvis and ureter" CL:0000225 oboInOwl:hasExactSynonym "non-nucleated cell" +MONDO:0010347 oboInOwl:hasExactSynonym "mental retardation, X-linked 84, X-linked recessive" MONDO:0010347 oboInOwl:hasExactSynonym "MRX84" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010347 oboInOwl:hasExactSynonym "intellectual disability, X-linked 84" HP:0000002 oboInOwl:hasExactSynonym "Abnormality of body height" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -128262,6 +129328,11 @@ MONDO:0008553 oboInOwl:hasExactSynonym "hereditary thrombasthenia-thrombocytopen MONDO:0008553 oboInOwl:hasExactSynonym "bleeding disorder, platelet-type 17" MONDO:0008553 oboInOwl:hasExactSynonym "GFI1B inherited bleeding disorder, platelet-type" MONDO:0008553 oboInOwl:hasExactSynonym "platelet-type bleeding disorder 17" +MONDO:0013108 oboInOwl:hasExactSynonym "leukemia, acute lymphoblastic, somatic" +MONDO:0013108 oboInOwl:hasExactSynonym "leukemia, T-cell acute lymphocytic, somatic" +MONDO:0013108 oboInOwl:hasExactSynonym "leukemia, T-cell acute lymphoblastic, somatic" +MONDO:0013108 oboInOwl:hasExactSynonym "T-cell acute lymphoblastic leukemia, somatic" +MONDO:0013108 oboInOwl:hasExactSynonym "leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic" MONDO:0013108 oboInOwl:hasExactSynonym "leukemia, acute lymphocytic, susceptibility to, 1" MONDO:0014666 oboInOwl:hasExactSynonym "HLD11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014666 oboInOwl:hasExactSynonym "leukodystrophy caused by mutation in POLR1C" @@ -128271,6 +129342,7 @@ MONDO:0014666 oboInOwl:hasExactSynonym "hypomyelinating leukodystrophy type 11" MONDO:0012392 oboInOwl:hasExactSynonym "developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency" MONDO:0012392 oboInOwl:hasExactSynonym "short/branched-chain acyl-coA dehydrogenase deficiency" MONDO:0012392 oboInOwl:hasExactSynonym "2-methylbutyryl-CoA dehydrogenase deficiency" +MONDO:0012392 oboInOwl:hasExactSynonym "2-methylbutyrylglycinuria" MONDO:0012392 oboInOwl:hasExactSynonym "butyryl-CoA dehydrogenase deficiency" MONDO:0012392 oboInOwl:hasExactSynonym "SBCAD deficiency" MONDO:0012392 oboInOwl:hasExactSynonym "2-methylbutyric aciduria" @@ -128295,10 +129367,10 @@ GO:0051589 oboInOwl:hasExactSynonym "down-regulation of neurotransmitter transpo MONDO:0004341 oboInOwl:hasExactSynonym "mucinous Noncystic carcinoma" MONDO:0004341 oboInOwl:hasExactSynonym "colloid carcinoma of the pancreas" MONDO:0004341 oboInOwl:hasExactSynonym "pancreatic mucinous Noncystic carcinoma" -MONDO:0019650 oboInOwl:hasExactSynonym "steroid-sensitive MCNS" MONDO:0002198 oboInOwl:hasExactSynonym "mammalian vulva glandular cell neoplasm" MONDO:0002198 oboInOwl:hasExactSynonym "vulvar glandular neoplasm" MONDO:0002198 oboInOwl:hasExactSynonym "vulvar glandular tumor" +MONDO:0019650 oboInOwl:hasExactSynonym "steroid-sensitive MCNS" MONDO:0054752 oboInOwl:hasExactSynonym "multiple synostoses syndrome 4" MONDO:0003144 oboInOwl:hasExactSynonym "medulloepithelioma, central nervous system" MONDO:0003144 oboInOwl:hasExactSynonym "medulloepithelioma of the central nervous system" @@ -128379,6 +129451,7 @@ NCBITaxon:11072 oboInOwl:hasExactSynonym "Japanese encephalitis virus JE" http:/ MONDO:0010243 oboInOwl:hasExactSynonym "immunoneurologic disorder, X-linked" MONDO:0010243 oboInOwl:hasExactSynonym "Woods-Black-Norbury syndrome" MONDO:0010243 oboInOwl:hasExactSynonym "X-linked immunoneurological disorder" +MONDO:0010243 oboInOwl:hasExactSynonym "Woods-Black-Norbury syndrome, X-linked dominant" MONDO:0010243 oboInOwl:hasExactSynonym "neonatal death immune deficiency" MONDO:0010243 oboInOwl:hasExactSynonym "Woods Black Norbury syndrome" MONDO:0006813 oboInOwl:hasExactSynonym "dermal Nevus" @@ -128412,9 +129485,11 @@ MONDO:0002751 oboInOwl:hasExactSynonym "adenocarcinoma of the urinary bladder" MONDO:0002751 oboInOwl:hasExactSynonym "adenocarcinoma of the bladder" MONDO:0002751 oboInOwl:hasExactSynonym "bladder adenocarcinoma" MONDO:0011705 oboInOwl:hasExactSynonym "lymphangioleiomyomatosis" +MONDO:0011705 oboInOwl:hasExactSynonym "lymphangioleiomyomatosis, somatic" MONDO:0011705 oboInOwl:hasExactSynonym "lymphangiomyomatosis" CHEBI:14321 oboInOwl:hasExactSynonym "hydrogen glutamate" CHEBI:14321 oboInOwl:hasExactSynonym "glutamate(1-)" +MONDO:0013382 oboInOwl:hasExactSynonym "thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)" GO:0045864 oboInOwl:hasExactSynonym "up regulation of pteridine metabolic process" GO:0045864 oboInOwl:hasExactSynonym "positive regulation of pteridine metabolism" GO:0045864 oboInOwl:hasExactSynonym "up-regulation of pteridine metabolic process" @@ -128445,8 +129520,8 @@ MONDO:0008332 oboInOwl:hasExactSynonym "BDPLT3" http://purl.obolibrary.org/obo/m MONDO:0008332 oboInOwl:hasExactSynonym "pseudo-von Willebrand disease type 2B" MONDO:0008332 oboInOwl:hasExactSynonym "PT-VWD" MONDO:0008332 oboInOwl:hasExactSynonym "pseudo-von Willebrand disease" -MONDO:0008332 oboInOwl:hasExactSynonym "Platelet-type von Willebrand disease" MONDO:0008332 oboInOwl:hasExactSynonym "platelet type-von Willebrand disease" +MONDO:0008332 oboInOwl:hasExactSynonym "Platelet-type von Willebrand disease" MONDO:0008332 oboInOwl:hasExactSynonym "von Willebrand disease platelet-type" MONDO:0008332 oboInOwl:hasExactSynonym "Platelet type-von Willebrand disease" MONDO:0009890 oboInOwl:hasExactSynonym "Gillessen-Kaesbach-Nishimura syndrome" @@ -128455,6 +129530,7 @@ MONDO:0013889 oboInOwl:hasExactSynonym "soph syndrome" GO:0051463 oboInOwl:hasExactSynonym "downregulation of cortisol secretion" GO:0051463 oboInOwl:hasExactSynonym "down regulation of cortisol secretion" GO:0051463 oboInOwl:hasExactSynonym "down-regulation of cortisol secretion" +MONDO:0060589 oboInOwl:hasExactSynonym "facial palsy, congenitla, with ptosis and velopharyngeal dysfunction" MONDO:0060589 oboInOwl:hasExactSynonym "facial palsy, congenital, with ptosis and velopharyngeal dysfunction" MONDO:0019065 oboInOwl:hasExactSynonym "amyloid disease" MONDO:0019065 oboInOwl:hasExactSynonym "amyloidosis (disease)" @@ -128480,10 +129556,10 @@ MONDO:0014760 oboInOwl:hasExactSynonym "IMD46" http://purl.obolibrary.org/obo/mo MONDO:0014760 oboInOwl:hasExactSynonym "immunodeficiency 46" MONDO:0014760 oboInOwl:hasExactSynonym "Cid due to TFRC deficiency" MONDO:0014760 oboInOwl:hasExactSynonym "immunodeficiency type 46" -MONDO:0001280 oboInOwl:hasExactSynonym "Choroiditides" -MONDO:0001280 oboInOwl:hasExactSynonym "posterior uveitis (disease)" MONDO:0001280 oboInOwl:hasExactSynonym "choroiditis" MONDO:0001280 oboInOwl:hasExactSynonym "posterior uveitis" +MONDO:0001280 oboInOwl:hasExactSynonym "posterior uveitis (disease)" +MONDO:0001280 oboInOwl:hasExactSynonym "Choroiditides" MONDO:0003818 oboInOwl:hasExactSynonym "pediatric mature teratoma of ovary" MONDO:0003818 oboInOwl:hasExactSynonym "childhood mature ovarian teratoma" MONDO:0003818 oboInOwl:hasExactSynonym "pediatric mature ovarian teratoma" @@ -128515,8 +129591,8 @@ MONDO:0018904 oboInOwl:hasExactSynonym "Mesangiocapillary glomerulonephritis" MONDO:0018904 oboInOwl:hasExactSynonym "MPGN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018904 oboInOwl:hasExactSynonym "membranoproliferative glomerulonephritis" MONDO:0016743 oboInOwl:hasExactSynonym "tumor of meningeal cluster" -MONDO:0016743 oboInOwl:hasExactSynonym "tumor of the meninges" MONDO:0016743 oboInOwl:hasExactSynonym "neoplasm of meningeal cluster" +MONDO:0016743 oboInOwl:hasExactSynonym "tumor of the meninges" MONDO:0016743 oboInOwl:hasExactSynonym "meningeal cluster neoplasm" MONDO:0016743 oboInOwl:hasExactSynonym "meninges tumor" MONDO:0016743 oboInOwl:hasExactSynonym "meningeal neoplasms" @@ -128563,6 +129639,7 @@ MONDO:0020603 oboInOwl:hasExactSynonym "Conrad Hunermann Happle syndrome" MONDO:0020603 oboInOwl:hasExactSynonym "Conradi Hunermann syndrome" MONDO:0020603 oboInOwl:hasExactSynonym "chondrodysplasia punctata 2 X-linked dominant" MONDO:0020603 oboInOwl:hasExactSynonym "X-linked chondrodysplasia punctata type 2" +MONDO:0020603 oboInOwl:hasExactSynonym "chondrodysplasia punctata, X-linked dominant, X-linked dominant" MONDO:0019455 oboInOwl:hasExactSynonym "APMF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019455 oboInOwl:hasExactSynonym "acute (malignant) myelofibrosis" MONDO:0019455 oboInOwl:hasExactSynonym "acute myelosclerosis" @@ -128602,8 +129679,8 @@ MONDO:0019338 oboInOwl:hasExactSynonym "sarcoid" MONDO:0019338 oboInOwl:hasExactSynonym "Boeck's sarcoid" MONDO:0019338 oboInOwl:hasExactSynonym "Boeck's sarcoidosis" MONDO:0019338 oboInOwl:hasExactSynonym "lymphogranulomatosis" -MONDO:0019338 oboInOwl:hasExactSynonym "sarcoidosis" MONDO:0019338 oboInOwl:hasExactSynonym "Darier-Roussy sarcoid" +MONDO:0019338 oboInOwl:hasExactSynonym "sarcoidosis" MONDO:0019338 oboInOwl:hasExactSynonym "Boeck sarcoid" GO:0009653 oboInOwl:hasExactSynonym "morphogenesis" GO:0009653 oboInOwl:hasExactSynonym "anatomical structure organization" @@ -128730,6 +129807,7 @@ MONDO:0019924 oboInOwl:hasExactSynonym "paternal UPD20" MONDO:0019924 oboInOwl:hasExactSynonym "paternal UPD(20)" MONDO:0012034 oboInOwl:hasExactSynonym "muscular dystrophy limb-girdle type 1F" MONDO:0012034 oboInOwl:hasExactSynonym "LGMD1F" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012034 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal dominant 2" MONDO:0013592 oboInOwl:hasExactSynonym "nonsyndromic congenital nail disorder type 9" MONDO:0002027 oboInOwl:hasExactSynonym "anxious personality disorder" MONDO:0021002 oboInOwl:hasExactSynonym "syndactyly (disease)" @@ -128774,6 +129852,7 @@ MONDO:0002406 oboInOwl:hasExactSynonym "inflammation of zone of skin" MONDO:0002406 oboInOwl:hasExactSynonym "zone of skin inflammation" MONDO:0002406 oboInOwl:hasExactSynonym "inflammation of the skin" MONDO:0002406 oboInOwl:hasExactSynonym "inflammation of skin" +MONDO:0010252 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked, with isolated growth hormone deficiency" MONDO:0010252 oboInOwl:hasExactSynonym "intellectual disability, X-linked, with panhypopituitarism" MONDO:0015441 oboInOwl:hasExactSynonym "Ring chromosome type 7" MONDO:0015441 oboInOwl:hasExactSynonym "rose cluster 7" @@ -128858,6 +129937,7 @@ MONDO:0040503 oboInOwl:hasExactSynonym "blepharo-cheilo-odontic syndrome caused MONDO:0013187 oboInOwl:hasExactSynonym "hereditary factor XIII A subunit deficiency" MONDO:0013187 oboInOwl:hasExactSynonym "factor XIII, A subunit, deficiency of" MONDO:0013187 oboInOwl:hasExactSynonym "hereditary factor XIII type II deficiency" +MONDO:0013187 oboInOwl:hasExactSynonym "factor XIIIA deficiency" MONDO:0013187 oboInOwl:hasExactSynonym "hereditary factor XIII alpha subunit deficiency" CHEBI:33318 oboInOwl:hasExactSynonym "main group elements" MONDO:0011875 oboInOwl:hasExactSynonym "epilepsy, idiopathic generalized, susceptibility to, 11" @@ -128877,6 +129957,7 @@ MONDO:0010660 oboInOwl:hasExactSynonym "FTSJ1 non-syndromic X-linked intellectua MONDO:0010660 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 9" MONDO:0010660 oboInOwl:hasExactSynonym "non-syndromic X-linked intellectual disability caused by mutation in FTSJ1" MONDO:0010660 oboInOwl:hasExactSynonym "intellectual disability, X-linked 9" +MONDO:0010660 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 9, X-linked recessive" MONDO:0010660 oboInOwl:hasExactSynonym "mental retardation, X-linked type 9" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0017464 oboInOwl:hasExactSynonym "congenital pseudarthrosis of the fibula" MONDO:0044621 oboInOwl:hasExactSynonym "tetrasomy 16p12.1-p12.3" @@ -128888,7 +129969,9 @@ MONDO:0013200 oboInOwl:hasExactSynonym "VCL hypertrophic cardiomyopathy" MONDO:0013200 oboInOwl:hasExactSynonym "CMH15" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013200 oboInOwl:hasExactSynonym "cardiomyopathy familial hypertrophic 15" MONDO:0013200 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy caused by mutation in VCL" +MONDO:0013200 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 15" MONDO:0013200 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, type 15" +MONDO:0009578 oboInOwl:hasExactSynonym "neurocutaneous melanosis, somatic" MONDO:0009578 oboInOwl:hasExactSynonym "NCM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009578 oboInOwl:hasExactSynonym "neurocutaneous melanosis" MONDO:0009407 oboInOwl:hasExactSynonym "hypertrophic neuropathy and cataract" @@ -128921,10 +130004,12 @@ HP:0008776 oboInOwl:hasExactSynonym "Abnormality of the renal artery" HP:0008776 oboInOwl:hasExactSynonym "Abnormal kidney artery" http://purl.obolibrary.org/obo/hp.obo#layperson CHEBI:33747 oboInOwl:hasExactSynonym "nickel group molecular entity" MONDO:0013421 oboInOwl:hasExactSynonym "classic complement early component deficiency caused by mutation in C8B" +MONDO:0013421 oboInOwl:hasExactSynonym "C8 deficiency, type II" MONDO:0013421 oboInOwl:hasExactSynonym "C8B classic complement early component deficiency" MONDO:0013509 oboInOwl:hasExactSynonym "autosomal dominant mental retardation 6" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0013509 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant type 6" MONDO:0013509 oboInOwl:hasExactSynonym "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B" +MONDO:0013509 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal dominant 6, with or without seizures" MONDO:0013509 oboInOwl:hasExactSynonym "MRD6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013509 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant 6" MONDO:0013509 oboInOwl:hasExactSynonym "GRIN2B autosomal dominant non-syndromic intellectual disability" @@ -128946,6 +130031,7 @@ MONDO:0030059 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL MONDO:0030059 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 87" MONDO:0030059 oboInOwl:hasExactSynonym "EIEE87" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030059 oboInOwl:hasExactSynonym "DEE87" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0030059 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 87" MONDO:0017013 oboInOwl:hasExactSynonym "trisomy type 8p" MONDO:0017013 oboInOwl:hasExactSynonym "Duplication 8p" MONDO:0004838 oboInOwl:hasExactSynonym "postural albuminuria" @@ -128956,6 +130042,7 @@ MONDO:0006807 oboInOwl:hasExactSynonym "bowel perforation" MONDO:0006807 oboInOwl:hasExactSynonym "perforation of intestine" MONDO:0007838 oboInOwl:hasExactSynonym "monosomy 11qter" MONDO:0007838 oboInOwl:hasExactSynonym "11q terminal deletion disorder" +MONDO:0007838 oboInOwl:hasExactSynonym "Jacobsen syndrome, Isolated cases" MONDO:0007838 oboInOwl:hasExactSynonym "telomeric deletion 11q" MONDO:0007838 oboInOwl:hasExactSynonym "distal monosomy 11q" MONDO:0007838 oboInOwl:hasExactSynonym "distal deletion 11q" @@ -129042,15 +130129,16 @@ MONDO:0011477 oboInOwl:hasExactSynonym "tooth agenesis, selective, 3" MONDO:0011477 oboInOwl:hasExactSynonym "tooth agenesis, selective, type 3" GO:0010032 oboInOwl:hasExactSynonym "chromosome condensation involved in meiotic cell cycle" MONDO:0013677 oboInOwl:hasExactSynonym "TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy" +MONDO:0013677 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome, classic-like, 1" MONDO:0013677 oboInOwl:hasExactSynonym "Emery-Dreifuss muscular dystrophy 7, autosomal dominant" MONDO:0013677 oboInOwl:hasExactSynonym "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43" -MONDO:0006671 oboInOwl:hasExactSynonym "Bacteroides caused disease or disorder" -MONDO:0006671 oboInOwl:hasExactSynonym "infection due to Bacteroides" -MONDO:0006671 oboInOwl:hasExactSynonym "Bacteroides disease or disorder" MONDO:0018866 oboInOwl:hasExactSynonym "encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid" MONDO:0018866 oboInOwl:hasExactSynonym "Cree encephalitis" MONDO:0018866 oboInOwl:hasExactSynonym "encephalopathy with basal ganglia calcification" MONDO:0018866 oboInOwl:hasExactSynonym "Aicardi Goutieres syndrome" +MONDO:0006671 oboInOwl:hasExactSynonym "Bacteroides caused disease or disorder" +MONDO:0006671 oboInOwl:hasExactSynonym "infection due to Bacteroides" +MONDO:0006671 oboInOwl:hasExactSynonym "Bacteroides disease or disorder" MONDO:0100188 oboInOwl:hasExactSynonym "ApoA-I and apoC-III deficiency, combined" MONDO:0021239 oboInOwl:hasExactSynonym "urethral neoplasm" MONDO:0021239 oboInOwl:hasExactSynonym "urethral tumor" @@ -129082,6 +130170,7 @@ MONDO:0004218 oboInOwl:hasExactSynonym "germ cell neoplasm of pediatric brain" MONDO:0004218 oboInOwl:hasExactSynonym "childhood brain germ cell tumor" MONDO:0004218 oboInOwl:hasExactSynonym "germ cell neoplasm of the pediatric brain" MONDO:0004218 oboInOwl:hasExactSynonym "germ cell neoplasm of the childhood brain" +MONDO:0010465 oboInOwl:hasExactSynonym "Kabuki syndrome 2, X-linked dominant" MONDO:0010465 oboInOwl:hasExactSynonym "Kabuki syndrome type 2" MONDO:0010465 oboInOwl:hasExactSynonym "Kabuki syndrome 2" MONDO:0005776 oboInOwl:hasExactSynonym "Gnathostomiasis" @@ -129117,6 +130206,7 @@ MONDO:0008168 oboInOwl:hasExactSynonym "ovarian fibroma (disease)" ECTO:0000173 oboInOwl:hasExactSynonym "exposure to corticosteroid" MONDO:0011517 oboInOwl:hasExactSynonym "hypertension due to gain-of-function mutations in the mineralocorticoid receptor" MONDO:0011517 oboInOwl:hasExactSynonym "early-onset hypertension with exacerbation in pregnancy" +MONDO:0011517 oboInOwl:hasExactSynonym "hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy" GO:0009308 oboInOwl:hasExactSynonym "amine metabolism" MONDO:0016921 oboInOwl:hasExactSynonym "partial duplication of chromosome type 1" MONDO:0016921 oboInOwl:hasExactSynonym "partial trisomy of chromosome 1" @@ -129133,11 +130223,11 @@ MONDO:0002973 oboInOwl:hasExactSynonym "epithelioid cell melanoma" MONDO:0002973 oboInOwl:hasExactSynonym "epithelioid cell malignant melanoma" MONDO:0019393 oboInOwl:hasExactSynonym "idiopathic bile acid malabsorption" MONDO:0021668 oboInOwl:hasExactSynonym "pain disorder" -MONDO:0016275 oboInOwl:hasExactSynonym "uterine cervix adenocarcinoma" MONDO:0019222 oboInOwl:hasExactSynonym "cytosolic methyl group transfer or sulfur amino acid metabolism disorder" MONDO:0019222 oboInOwl:hasExactSynonym "inborn error of sulfur amino acid metabolic process" MONDO:0019222 oboInOwl:hasExactSynonym "inborn sulfur amino acid metabolic process disorder" MONDO:0019222 oboInOwl:hasExactSynonym "rare inborn error of sulfur amino acid metabolic process" +MONDO:0016275 oboInOwl:hasExactSynonym "uterine cervix adenocarcinoma" MONDO:0010758 oboInOwl:hasExactSynonym "Wieacker syndrome" MONDO:0010758 oboInOwl:hasExactSynonym "MCS" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010758 oboInOwl:hasExactSynonym "Miles-CARPENTER X-linked mental retardation syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -129153,9 +130243,11 @@ MONDO:0010758 oboInOwl:hasExactSynonym "intellectual disability-developmental de MONDO:0010758 oboInOwl:hasExactSynonym "Wieacker-Wolff syndrome, X-linked" MONDO:0010758 oboInOwl:hasExactSynonym "MRXS4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010758 oboInOwl:hasExactSynonym "X-linked intellectual disability, Miles-Carpenter type" +MONDO:0010758 oboInOwl:hasExactSynonym "Wieacker-Wolff syndrome, X-linked recessive" MONDO:0010758 oboInOwl:hasExactSynonym "Wieacker-Wolff syndrome" MONDO:0010758 oboInOwl:hasExactSynonym "mental retardation, X-linked, with congenital contractures and low fingertip arches" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010758 oboInOwl:hasExactSynonym "foot contractures-muscle atrophy-oculomotor apraxia syndrome" +MONDO:0013226 oboInOwl:hasExactSynonym "Roifman-Chitayat syndrome, digenic" MONDO:0013226 oboInOwl:hasExactSynonym "Roifman-Chitayat syndrome" MONDO:0021445 oboInOwl:hasExactSynonym "benign oral cavity neoplasm" MONDO:0021445 oboInOwl:hasExactSynonym "benign mouth tumor" @@ -129193,17 +130285,20 @@ MONDO:0017677 oboInOwl:hasExactSynonym "punctate palmoplantar keratoderma type 3 MONDO:0017677 oboInOwl:hasExactSynonym "PPKP3 without elastoidosis" MONDO:0008554 oboInOwl:hasExactSynonym "thrombocythemia 1" MONDO:0008554 oboInOwl:hasExactSynonym "thrombocythemia type 1" +MONDO:0008554 oboInOwl:hasExactSynonym "thrombocythemia, somatic" MONDO:0001762 oboInOwl:hasExactSynonym "dentine tooth erosion, non-bacterial" MONDO:0001762 oboInOwl:hasExactSynonym "tooth erosion, non-bacterial of dentine" MONDO:0014667 oboInOwl:hasExactSynonym "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3" MONDO:0014667 oboInOwl:hasExactSynonym "fatal infantile encephalocardiomyopathy caused by mutation in COA5" MONDO:0014667 oboInOwl:hasExactSynonym "COA5 fatal infantile encephalocardiomyopathy" +MONDO:0014667 oboInOwl:hasExactSynonym "mitochondrial complex IV, deficiency, nuclear type 9" MONDO:0014667 oboInOwl:hasExactSynonym "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3" MONDO:0013109 oboInOwl:hasExactSynonym "leukemia, acute lymphocytic, susceptibility to, 2" MONDO:0000709 oboInOwl:hasExactSynonym "Crohn's ileitis" MONDO:0009500 oboInOwl:hasExactSynonym "kuru, susceptibility to" MONDO:0008730 oboInOwl:hasExactSynonym "CAH due to 17-alpha-hydroxylase deficiency" MONDO:0008730 oboInOwl:hasExactSynonym "combined 17-hydroxylase/17,20-lyase deficiency" +MONDO:0008730 oboInOwl:hasExactSynonym "17-alpha-hydroxylase/17,20-lyase deficiency" MONDO:0012393 oboInOwl:hasExactSynonym "inherited GS deficiency" MONDO:0012393 oboInOwl:hasExactSynonym "inherited glutamine synthetase deficiency" MONDO:0012393 oboInOwl:hasExactSynonym "congenital brain dysgenesis due to glutamine synthetase deficiency" @@ -129217,6 +130312,17 @@ MONDO:0004134 oboInOwl:hasExactSynonym "benign neurilemmoma of the skin" MONDO:0007357 oboInOwl:hasExactSynonym "colonic varices without portal hypertension" MONDO:0003460 oboInOwl:hasExactSynonym "clear cell adenofibroma" MONDO:0003460 oboInOwl:hasExactSynonym "clear cell adenofibroma (morphologic abnormality)" +MONDO:0022177 oboInOwl:hasExactSynonym "partial duplication of the long arm of chromosome 13" +MONDO:0022177 oboInOwl:hasExactSynonym "partial trisomy of the long arm of chromosome 13" +MONDO:0022177 oboInOwl:hasExactSynonym "13q trisomy" +MONDO:0022177 oboInOwl:hasExactSynonym "chromosome 13q duplication" +MONDO:0022177 oboInOwl:hasExactSynonym "Duplication 13q" +MONDO:0022177 oboInOwl:hasExactSynonym "13q duplication" +MONDO:0022177 oboInOwl:hasExactSynonym "partial trisomy 13q" +MONDO:0022177 oboInOwl:hasExactSynonym "partial duplication of chromosome 13q" +MONDO:0022177 oboInOwl:hasExactSynonym "trisomy 13q" +MONDO:0022177 oboInOwl:hasExactSynonym "partial duplication of the long arm of chromosome type 13" +MONDO:0022177 oboInOwl:hasExactSynonym "partial trisomy of chromosome 13q" MONDO:0010244 oboInOwl:hasExactSynonym "cognitive function 1, social" MONDO:0010244 oboInOwl:hasExactSynonym "CGF1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010244 oboInOwl:hasExactSynonym "social cognition" @@ -129232,6 +130338,7 @@ MONDO:0005208 oboInOwl:hasExactSynonym "amelanotic malignant melanoma of skin" MONDO:0005208 oboInOwl:hasExactSynonym "amelanotic cutaneous (skin) melanoma" MONDO:0005208 oboInOwl:hasExactSynonym "amelanotic melanoma of skin" MONDO:0005208 oboInOwl:hasExactSynonym "amelanotic melanoma of zone of skin" +MONDO:0005575 oboInOwl:hasExactSynonym "colon cancer, advanced, somatic" MONDO:0005575 oboInOwl:hasExactSynonym "cancer of large intestine" MONDO:0005575 oboInOwl:hasExactSynonym "malignant colorectal tumor" MONDO:0005575 oboInOwl:hasExactSynonym "malignant neoplasm of large intestine" @@ -129241,17 +130348,23 @@ MONDO:0005575 oboInOwl:hasExactSynonym "cancer of large bowel" MONDO:0005575 oboInOwl:hasExactSynonym "malignant large intestine neoplasm" MONDO:0005575 oboInOwl:hasExactSynonym "malignant tumor of the large intestine" MONDO:0005575 oboInOwl:hasExactSynonym "malignant neoplasm of large bowel" +MONDO:0005575 oboInOwl:hasExactSynonym "colorectal cancer, somatic" +MONDO:0005575 oboInOwl:hasExactSynonym "colon cancer, susceptibility to, autosomal dominant, somatic mutation" MONDO:0005575 oboInOwl:hasExactSynonym "malignant large intestine tumor" MONDO:0005575 oboInOwl:hasExactSynonym "malignant large bowel neoplasm" MONDO:0005575 oboInOwl:hasExactSynonym "malignant large bowel tumor" MONDO:0005575 oboInOwl:hasExactSynonym "malignant tumor of large intestine" MONDO:0005575 oboInOwl:hasExactSynonym "cancer of colorectum" +MONDO:0005575 oboInOwl:hasExactSynonym "colorectal cancer with chromosomal instability, somatic" MONDO:0005575 oboInOwl:hasExactSynonym "malignant neoplasm of the large intestine" +MONDO:0005575 oboInOwl:hasExactSynonym "colon cancer, somatic" +MONDO:0005575 oboInOwl:hasExactSynonym "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation" MONDO:0005575 oboInOwl:hasExactSynonym "malignant neoplasm of colorectum" MONDO:0005575 oboInOwl:hasExactSynonym "malignant tumor of large bowel" MONDO:0005575 oboInOwl:hasExactSynonym "colorectum cancer" MONDO:0005575 oboInOwl:hasExactSynonym "colorectal cancer" MONDO:0005575 oboInOwl:hasExactSynonym "malignant colorectum neoplasm" +MONDO:0005575 oboInOwl:hasExactSynonym "colorectal cancer, autosomal dominant, somatic mutation" MONDO:0005575 oboInOwl:hasExactSynonym "malignant neoplasm of the large bowel" MONDO:0005575 oboInOwl:hasExactSynonym "malignant tumor of the large bowel" MONDO:0006521 oboInOwl:hasExactSynonym "Rash acneiform" @@ -129261,6 +130374,7 @@ MONDO:0009462 oboInOwl:hasExactSynonym "inosine phosphorylase deficiency, immune GO:0043227 oboInOwl:hasExactSynonym "membrane-enclosed organelle" MONDO:0024521 oboInOwl:hasExactSynonym "aortic aneurysm, familial abdominal, 1" MONDO:0024521 oboInOwl:hasExactSynonym "AAA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0024521 oboInOwl:hasExactSynonym "aortic aneurysm, familial abdominal 1" MONDO:0011338 oboInOwl:hasExactSynonym "Omenn syndrome" MONDO:0011338 oboInOwl:hasExactSynonym "combined immunodeficiency with hypereosinophilia" MONDO:0006649 oboInOwl:hasExactSynonym "ischemic optic neuropathy" @@ -129316,6 +130430,7 @@ MONDO:0005941 oboInOwl:hasExactSynonym "malignant tumor of peritoneum and retrop MONDO:0018539 oboInOwl:hasExactSynonym "rare epithelial tumor of small bowel" MONDO:0011047 oboInOwl:hasExactSynonym "chitty-Hall-Baraitser syndrome" MONDO:0008333 oboInOwl:hasExactSynonym "pseudoxanthoma elasticum, forme fruste" +MONDO:0009891 oboInOwl:hasExactSynonym "polycythemia vera, somatic" MONDO:0009891 oboInOwl:hasExactSynonym "Osler-Vaquez disease" MONDO:0009891 oboInOwl:hasExactSynonym "polycythemia rubra vera" MONDO:0009891 oboInOwl:hasExactSynonym "polycythemia vera" @@ -129329,11 +130444,11 @@ MONDO:0002752 oboInOwl:hasExactSynonym "ovarian adenocarcinoma" MONDO:0002752 oboInOwl:hasExactSynonym "ovary adenocarcinoma" MONDO:0002752 oboInOwl:hasExactSynonym "adenocarcinoma of ovary" MONDO:0002752 oboInOwl:hasExactSynonym "adenocarcinoma of the ovary" -MONDO:0024950 oboInOwl:hasExactSynonym "horse disease" MONDO:0013383 oboInOwl:hasExactSynonym "Hirschsprung disease, susceptibility to, type 3" MONDO:0013383 oboInOwl:hasExactSynonym "GDNF Hirschsprung disease" MONDO:0013383 oboInOwl:hasExactSynonym "Hirschsprung disease, susceptibility to, 3" MONDO:0013383 oboInOwl:hasExactSynonym "Hirschsprung disease caused by mutation in GDNF" +MONDO:0024950 oboInOwl:hasExactSynonym "horse disease" GO:0032689 oboInOwl:hasExactSynonym "down regulation of interferon-gamma production" GO:0032689 oboInOwl:hasExactSynonym "down-regulation of interferon-gamma production" GO:0032689 oboInOwl:hasExactSynonym "downregulation of interferon-gamma production" @@ -129353,6 +130468,7 @@ MONDO:0030508 oboInOwl:hasExactSynonym "SPGF62" http://purl.obolibrary.org/obo/m ECTO:4000001 oboInOwl:hasExactSynonym "increased temperature exposure" MONDO:0016440 oboInOwl:hasExactSynonym "Elastofibroma" MONDO:0012488 oboInOwl:hasExactSynonym "hepatitis b virus, susceptibility to" +MONDO:0012488 oboInOwl:hasExactSynonym "hepatitis B virus infection, susceptibility to" MONDO:0045049 oboInOwl:hasExactSynonym "hypermature cataract" MONDO:0014761 oboInOwl:hasExactSynonym "autoinflammatory syndrome, familial, Behcet-like" MONDO:0014761 oboInOwl:hasExactSynonym "Behçet-like disease due to haploinsufficiency of A20" @@ -129384,6 +130500,7 @@ MONDO:0014832 oboInOwl:hasExactSynonym "MRT53" http://purl.obolibrary.org/obo/mo MONDO:0014832 oboInOwl:hasExactSynonym "PIGG-CDG" MONDO:0014832 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive 53" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014832 oboInOwl:hasExactSynonym "GPIBD13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014832 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 53" MONDO:0014832 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 53" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014832 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 53" MONDO:0014832 oboInOwl:hasExactSynonym "congenital disorder of glycosylation due to PIGG deficiency" @@ -129411,6 +130528,7 @@ MONDO:0014377 oboInOwl:hasExactSynonym "HCN1 early infantile epileptic encephalo MONDO:0014377 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 24" MONDO:0014377 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 24" MONDO:0014377 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in HCN1" +MONDO:0014377 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 24" MONDO:0014377 oboInOwl:hasExactSynonym "EIEE24" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014377 oboInOwl:hasExactSynonym "DEE24" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003785 oboInOwl:hasExactSynonym "White blood cell decreased" @@ -129472,11 +130590,11 @@ MONDO:0011706 oboInOwl:hasExactSynonym "Kufor-Rakeb syndrome" MONDO:0011706 oboInOwl:hasExactSynonym "PARK9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011706 oboInOwl:hasExactSynonym "autosomal recessive juvenile onset Parkinson disease 9" MONDO:0011706 oboInOwl:hasExactSynonym "autosomal recessive Parkinson disease 9" -MONDO:0010936 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis, Chmp2B-related" -MONDO:0010936 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis caused by mutation in CHMP2B" -MONDO:0010936 oboInOwl:hasExactSynonym "CHMP2B-related amyotrophic lateral sclerosis" MONDO:0010936 oboInOwl:hasExactSynonym "FTD3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010936 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis caused by mutation in CHMP2B" +MONDO:0010936 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis, Chmp2B-related" MONDO:0010936 oboInOwl:hasExactSynonym "CHMP2B amyotrophic lateral sclerosis" +MONDO:0010936 oboInOwl:hasExactSynonym "CHMP2B-related amyotrophic lateral sclerosis" MONDO:0010936 oboInOwl:hasExactSynonym "frontotemporal dementia, chromosome 3-linked" HP:0002637 oboInOwl:hasExactSynonym "Disruption of blood oxygen supply to brain" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0002637 oboInOwl:hasExactSynonym "Cerebrovascular ischemia" @@ -129527,7 +130645,10 @@ MONDO:0004531 oboInOwl:hasExactSynonym "sclerosing adenosis of the breast" MONDO:0004531 oboInOwl:hasExactSynonym "breast sclerosing adenosis" MONDO:0004531 oboInOwl:hasExactSynonym "sclerosing breast adenosis" MONDO:0004531 oboInOwl:hasExactSynonym "sclerosing adenosis" +MONDO:0008000 oboInOwl:hasExactSynonym "migraine without aura, susceptibility to" MONDO:0008000 oboInOwl:hasExactSynonym "migraine with or without aura, susceptibility to, 1" +MONDO:0008000 oboInOwl:hasExactSynonym "migraine, susceptibility to" +MONDO:0008000 oboInOwl:hasExactSynonym "migraine, resistance to" MONDO:0008000 oboInOwl:hasExactSynonym "migraine with or without aura, susceptibility to, type 1" MONDO:0012267 oboInOwl:hasExactSynonym "holoprosencephaly 8" MONDO:0012267 oboInOwl:hasExactSynonym "HPE8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -129559,8 +130680,8 @@ CL:0019017 oboInOwl:hasExactSynonym "smooth muscle cell of lymphatic vessel" MONDO:0003670 oboInOwl:hasExactSynonym "posteroinferior myocardial infarction by EKG finding" MONDO:0003670 oboInOwl:hasExactSynonym "posteroinferior myocardial infarction by ECG finding" MONDO:0009032 oboInOwl:hasExactSynonym "cranioectodermal dysplasia" -MONDO:0009032 oboInOwl:hasExactSynonym "Levin syndrome" MONDO:0009032 oboInOwl:hasExactSynonym "CED" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009032 oboInOwl:hasExactSynonym "Levin syndrome" MONDO:0009032 oboInOwl:hasExactSynonym "Sensenbrenner syndrome" CL:0002460 oboInOwl:hasExactSynonym "DC.8-.Th" MONDO:0004414 oboInOwl:hasExactSynonym "tamoxifen-related endometrial disorder" @@ -129581,6 +130702,7 @@ MONDO:0012840 oboInOwl:hasExactSynonym "IL23R inflammatory bowel disease" MONDO:0012840 oboInOwl:hasExactSynonym "inflammatory bowel disease 17" MONDO:0012840 oboInOwl:hasExactSynonym "inflammatory bowel disease type 17" MONDO:0012840 oboInOwl:hasExactSynonym "inflammatory bowel disease caused by mutation in IL23R" +MONDO:0012840 oboInOwl:hasExactSynonym "inflammatory bowel disease 17, protection against" MONDO:0012840 oboInOwl:hasExactSynonym "IBD17" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005159 oboInOwl:hasExactSynonym "carcinoma of prostate" MONDO:0005159 oboInOwl:hasExactSynonym "prostate gland carcinoma" @@ -129616,6 +130738,7 @@ MONDO:0011570 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease neuronal typ MONDO:0011570 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2B2" MONDO:0011570 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2 caused by mutation in MED25" MONDO:0011570 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2B2" +MONDO:0011570 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 2B2" MONDO:0011570 oboInOwl:hasExactSynonym "autosomal recessive axonal CMT4C3" MONDO:0001259 oboInOwl:hasExactSynonym "pituitary gland infarction" MONDO:0001259 oboInOwl:hasExactSynonym "pituitary infarction" @@ -129664,6 +130787,7 @@ MONDO:0019339 oboInOwl:hasExactSynonym "47,XYY" MONDO:0019339 oboInOwl:hasExactSynonym "disomy Y" MONDO:0019339 oboInOwl:hasExactSynonym "Double Y" MONDO:0019339 oboInOwl:hasExactSynonym "XYY karyotype" +MONDO:0014331 oboInOwl:hasExactSynonym "moyamoya 6 with achalasia" MONDO:0002050 oboInOwl:hasExactSynonym "depression" MONDO:0002050 oboInOwl:hasExactSynonym "mental depression" MONDO:0005567 oboInOwl:hasExactSynonym "substance withdrawal" @@ -129681,6 +130805,7 @@ MONDO:0006209 oboInOwl:hasExactSynonym "fibrocytic tumor" MONDO:0006209 oboInOwl:hasExactSynonym "fibroblastic neoplasm" MONDO:0006209 oboInOwl:hasExactSynonym "fibrogenic neoplasm" MONDO:0007767 oboInOwl:hasExactSynonym "hyperparathyroidism 1" +MONDO:0007767 oboInOwl:hasExactSynonym "hyperparathyroidism, familial primary" MONDO:0007767 oboInOwl:hasExactSynonym "hyperparathyroidism type 1" MONDO:0019925 oboInOwl:hasExactSynonym "paternal uniparental disomy of chromosome type 21" MONDO:0019925 oboInOwl:hasExactSynonym "UPD(21)pat" @@ -129720,6 +130845,7 @@ MONDO:0013834 oboInOwl:hasExactSynonym "UV-sensitive syndrome 3" MONDO:0013834 oboInOwl:hasExactSynonym "UV-sensitive syndrome caused by mutation in UVSSA" MONDO:0013834 oboInOwl:hasExactSynonym "UV-sensitive syndrome type 3" MONDO:0006149 oboInOwl:hasExactSynonym "clear cell papillary cystadenoma" +MONDO:0032852 oboInOwl:hasExactSynonym "myopathy, congenital with structured cores and z-line abnormalities" GO:0015980 oboInOwl:hasExactSynonym "chemoorganotrophy" MONDO:0004837 oboInOwl:hasExactSynonym "neurofibroma of the esophagus" MONDO:0004837 oboInOwl:hasExactSynonym "esophagus neurofibroma" @@ -129759,10 +130885,10 @@ MONDO:0011876 oboInOwl:hasExactSynonym "epilepsy, juvenile absence, susceptibili CHEBI:35519 oboInOwl:hasExactSynonym "cholane" MONDO:0002761 oboInOwl:hasExactSynonym "uterine cervix verrucous carcinoma" MONDO:0002761 oboInOwl:hasExactSynonym "cervical verrucous carcinoma" -MONDO:0008294 oboInOwl:hasExactSynonym "AIP - acute intermittent porphyria" -MONDO:0008294 oboInOwl:hasExactSynonym "pyrroloporphyria" MONDO:0008294 oboInOwl:hasExactSynonym "porphyria intermittent acute" MONDO:0008294 oboInOwl:hasExactSynonym "acute intermittent porphyria" +MONDO:0008294 oboInOwl:hasExactSynonym "pyrroloporphyria" +MONDO:0008294 oboInOwl:hasExactSynonym "AIP - acute intermittent porphyria" MONDO:0003998 oboInOwl:hasExactSynonym "vaginal tubular adenoma" ENVO:00001999 oboInOwl:hasExactSynonym "marine waterbody" ENVO:00001999 oboInOwl:hasExactSynonym "body of marine water" @@ -129815,6 +130941,7 @@ ECTO:4000029 oboInOwl:hasExactSynonym "exposure to increased amount in temperatu GO:0046321 oboInOwl:hasExactSynonym "up-regulation of fatty acid oxidation" GO:0046321 oboInOwl:hasExactSynonym "upregulation of fatty acid oxidation" GO:0046321 oboInOwl:hasExactSynonym "up regulation of fatty acid oxidation" +MONDO:0033655 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 20" MONDO:0033655 oboInOwl:hasExactSynonym "MC4DN20" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0045904 oboInOwl:hasExactSynonym "down-regulation of translational termination" GO:0045904 oboInOwl:hasExactSynonym "downregulation of translational termination" @@ -129839,6 +130966,7 @@ MONDO:0002409 oboInOwl:hasExactSynonym "disease of auditory system" MONDO:0002409 oboInOwl:hasExactSynonym "auditory system disease" MONDO:0002409 oboInOwl:hasExactSynonym "auditory disease" MONDO:0002409 oboInOwl:hasExactSynonym "disease or disorder of auditory system" +MONDO:0014824 oboInOwl:hasExactSynonym "developmental delay with short stature, dysmorphic facial features, and sparse hair" MONDO:0014824 oboInOwl:hasExactSynonym "developmental delay with short stature, dysmorphic features, and sparse hair" MONDO:0014824 oboInOwl:hasExactSynonym "DEDSSH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014824 oboInOwl:hasExactSynonym "developmental delay-short stature-dysmorphic features-sparse hair syndrome" @@ -129859,12 +130987,14 @@ MONDO:0017686 oboInOwl:hasExactSynonym "rare inborn error of aminoacylase activi MONDO:0017686 oboInOwl:hasExactSynonym "inborn aminoacylase activity disorder" MONDO:0017686 oboInOwl:hasExactSynonym "inborn error of aminoacylase activity" MONDO:0016432 oboInOwl:hasExactSynonym "atriodigital dysplasia" +MONDO:0011393 oboInOwl:hasExactSynonym "HDL deficiency, familial, 1" MONDO:0011393 oboInOwl:hasExactSynonym "hypoalphalipoproteinemia, familial" MONDO:0012035 oboInOwl:hasExactSynonym "Longman-Tolmie syndrome" MONDO:0018197 oboInOwl:hasExactSynonym "mtDNA depletion syndrome, hepatocerebrorenal form" MONDO:0016809 oboInOwl:hasExactSynonym "MSCAE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016809 oboInOwl:hasExactSynonym "SCAE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016809 oboInOwl:hasExactSynonym "mitochondrial spinocerebellar ataxia with epilepsy" +MONDO:0013422 oboInOwl:hasExactSynonym "C8 deficiency, type I" MONDO:0013422 oboInOwl:hasExactSynonym "classic complement early component deficiency caused by mutation in C8A" MONDO:0013422 oboInOwl:hasExactSynonym "C8A classic complement early component deficiency" HP:0001197 oboInOwl:hasExactSynonym "Abnormality of prenatal development or birth" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -129990,12 +131120,15 @@ MONDO:0009861 oboInOwl:hasExactSynonym "phenylketonuria" MONDO:0009861 oboInOwl:hasExactSynonym "phenylalaninemia" MONDO:0009861 oboInOwl:hasExactSynonym "PAH deficiency" MONDO:0009861 oboInOwl:hasExactSynonym "phenylalanine hydroxylase deficiency" +MONDO:0009861 oboInOwl:hasExactSynonym "hyperphenylalaninemia, non-PKU mild" MONDO:0014416 oboInOwl:hasExactSynonym "ACTH-independent macronodular adrenal hyperplasia 2" MONDO:0014416 oboInOwl:hasExactSynonym "Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5" +MONDO:0014416 oboInOwl:hasExactSynonym "ACTH-independent macronodular adrenal hyperplasia 2, autosomal dominant, somatic mutation" MONDO:0014416 oboInOwl:hasExactSynonym "ACTH-independent macronodular adrenal hyperplasia type 2" MONDO:0014416 oboInOwl:hasExactSynonym "ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia" MONDO:0013025 oboInOwl:hasExactSynonym "monosomy 6q25" MONDO:0013025 oboInOwl:hasExactSynonym "del(6q25)" +MONDO:0013025 oboInOwl:hasExactSynonym "chromosome 6q25-q25 deletion syndrome" MONDO:0013025 oboInOwl:hasExactSynonym "6q25 microdeletion syndrome" MONDO:0013025 oboInOwl:hasExactSynonym "Del(6)(q25)" MONDO:0013025 oboInOwl:hasExactSynonym "chromosome 6q24-q25 deletion syndrome" @@ -130016,6 +131149,7 @@ MONDO:0011243 oboInOwl:hasExactSynonym "progressive arterial occlusive disease-h MONDO:0011243 oboInOwl:hasExactSynonym "grange syndrome" MONDO:0011243 oboInOwl:hasExactSynonym "grange occlusive arterial syndrome" MONDO:0030907 oboInOwl:hasExactSynonym "intellectual disability, X-linked 106" +MONDO:0030907 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 106, X-linked recessive" MONDO:0005777 oboInOwl:hasExactSynonym "granuloma inguinale" MONDO:0005777 oboInOwl:hasExactSynonym "donovanosis" MONDO:0005777 oboInOwl:hasExactSynonym "pudendal ulcer" @@ -130023,10 +131157,12 @@ CHEBI:26606 oboInOwl:hasExactSynonym "sapogenin" MONDO:0012868 oboInOwl:hasExactSynonym "hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant" MONDO:0012868 oboInOwl:hasExactSynonym "autosomal dominant hereditary thrombophilia due to congenital protein S deficiency" MONDO:0012868 oboInOwl:hasExactSynonym "thrombophilia due to protein S deficiency, autosomal dominant" +MONDO:0012868 oboInOwl:hasExactSynonym "thrombophilia 5 due to protein S deficiency, autosomal dominant" MONDO:0008031 oboInOwl:hasExactSynonym "SMCHD1 facioscapulohumeral muscular dystrophy" MONDO:0008031 oboInOwl:hasExactSynonym "facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1" MONDO:0008031 oboInOwl:hasExactSynonym "facioscapulohumeral muscular dystrophy type 2" MONDO:0008031 oboInOwl:hasExactSynonym "facioscapulohumeral muscular dystrophy 2" +MONDO:0008031 oboInOwl:hasExactSynonym "fascioscapulohumeral muscular dystrophy 2, digenic, digenic dominant" MONDO:0015694 oboInOwl:hasExactSynonym "mucosa melanoma" MONDO:0015694 oboInOwl:hasExactSynonym "melanoma (disease) of mucosa" MONDO:0015694 oboInOwl:hasExactSynonym "mucosa melanoma (disease)" @@ -130041,6 +131177,7 @@ MONDO:0030875 oboInOwl:hasExactSynonym "frontotemporal dementia and/or amyotroph MONDO:0030875 oboInOwl:hasExactSynonym "FTDALS5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013899 oboInOwl:hasExactSynonym "Weill-Marchesani syndrome caused by mutation in LTBP2" MONDO:0013899 oboInOwl:hasExactSynonym "Weill-Marchesani syndrome 3" +MONDO:0013899 oboInOwl:hasExactSynonym "Weill-Marchesani syndrome 3, recessive" MONDO:0013899 oboInOwl:hasExactSynonym "LTBP2 Weill-Marchesani syndrome" MONDO:0013899 oboInOwl:hasExactSynonym "Weill-Marchesani syndrome type 3" MONDO:0012645 oboInOwl:hasExactSynonym "GLC1N" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -130066,6 +131203,7 @@ MONDO:0002974 oboInOwl:hasExactSynonym "malignant tumor of uterine cervix" MONDO:0002974 oboInOwl:hasExactSynonym "malignant tumor of the cervix" MONDO:0002974 oboInOwl:hasExactSynonym "malignant cervix uteri neoplasm" MONDO:0002974 oboInOwl:hasExactSynonym "malignant uterine cervix neoplasm" +MONDO:0002974 oboInOwl:hasExactSynonym "cervical cancer, somatic" MONDO:0002974 oboInOwl:hasExactSynonym "malignant uterine cervix tumor" MONDO:0002974 oboInOwl:hasExactSynonym "malignant neoplasm of the cervix" MONDO:0002974 oboInOwl:hasExactSynonym "malignant cervical neoplasm" @@ -130158,8 +131296,9 @@ MONDO:0012237 oboInOwl:hasExactSynonym "nemaline myopathy caused by mutation in MONDO:0012237 oboInOwl:hasExactSynonym "nemaline myopathy 6" MONDO:0012237 oboInOwl:hasExactSynonym "KBTBD13 nemaline myopathy" MONDO:0009711 oboInOwl:hasExactSynonym "CFTDM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009711 oboInOwl:hasExactSynonym "congenital myopathy with fiber type disproportion" +MONDO:0009711 oboInOwl:hasExactSynonym "myopathy, congenital, with fiber-type disproportion 1" MONDO:0009711 oboInOwl:hasExactSynonym "congenital fiber-type disproportion" +MONDO:0009711 oboInOwl:hasExactSynonym "congenital myopathy with fiber type disproportion" MONDO:0009711 oboInOwl:hasExactSynonym "congenital myopathy with fibre type disproportion" SO:0000298 oboInOwl:hasExactSynonym "recombination feature" SO:0000298 oboInOwl:hasExactSynonym "INSDC_qualifier:other" @@ -130191,6 +131330,7 @@ MONDO:0007900 oboInOwl:hasExactSynonym "nail disorder, nonsyndromic congenital, MONDO:0007900 oboInOwl:hasExactSynonym "PLCD1 inherited isolated nail anomaly" MONDO:0007900 oboInOwl:hasExactSynonym "inherited isolated nail anomaly caused by mutation in PLCD1" MONDO:0007900 oboInOwl:hasExactSynonym "nonsyndromic congenital nail disorder type 3" +MONDO:0007900 oboInOwl:hasExactSynonym "nail disorder, nonsyndromic congenital, 3, (leukonychia)" HP:0100887 oboInOwl:hasExactSynonym "Eye size difference" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0100887 oboInOwl:hasExactSynonym "Abnormality of eyeball size" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0010466 oboInOwl:hasExactSynonym "GPIBD4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -130199,6 +131339,7 @@ MONDO:0010466 oboInOwl:hasExactSynonym "DEE20" http://purl.obolibrary.org/obo/mo MONDO:0010466 oboInOwl:hasExactSynonym "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA" MONDO:0010466 oboInOwl:hasExactSynonym "glycosylphosphatidylinositol biosynthesis defect 4" MONDO:0010466 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 20" +MONDO:0010466 oboInOwl:hasExactSynonym "multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive" MONDO:0010466 oboInOwl:hasExactSynonym "multiple congenital anomalies-hypotonia-seizures syndrome type 2" MONDO:0010466 oboInOwl:hasExactSynonym "MCAHS type 2" MONDO:0010466 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 20" @@ -130213,6 +131354,7 @@ MONDO:0020531 oboInOwl:hasExactSynonym "inborn error of long-chain-acyl-CoA dehy MONDO:0020531 oboInOwl:hasExactSynonym "acyl-CoA dehydrogenase, long-chain deficiency" MONDO:0020531 oboInOwl:hasExactSynonym "LCAD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011917 oboInOwl:hasExactSynonym "focal segmental glomerulosclerosis 3, susceptibility to" +MONDO:0011917 oboInOwl:hasExactSynonym "glomerulosclerosis, focal segmental, 3" MONDO:0011917 oboInOwl:hasExactSynonym "CD2AP focal segmental glomerulosclerosis" MONDO:0011917 oboInOwl:hasExactSynonym "focal segmental glomerulosclerosis caused by mutation in CD2AP" MONDO:0008451 oboInOwl:hasExactSynonym "distal hereditary motor neuronopathy type I" @@ -130224,8 +131366,8 @@ MONDO:0000795 oboInOwl:hasExactSynonym "allergy of penicillin" MONDO:0000795 oboInOwl:hasExactSynonym "penicillin allergic disease" MONDO:0007254 oboInOwl:hasExactSynonym "mammary cancer" MONDO:0007254 oboInOwl:hasExactSynonym "malignant tumor of breast" -MONDO:0007254 oboInOwl:hasExactSynonym "malignant neoplasm of the breast" MONDO:0007254 oboInOwl:hasExactSynonym "malignant breast tumor" +MONDO:0007254 oboInOwl:hasExactSynonym "malignant neoplasm of the breast" MONDO:0007254 oboInOwl:hasExactSynonym "cancer of breast" MONDO:0007254 oboInOwl:hasExactSynonym "malignant neoplasm of breast" MONDO:0007254 oboInOwl:hasExactSynonym "malignant tumor of the breast" @@ -130242,6 +131384,7 @@ GO:2000470 oboInOwl:hasExactSynonym "positive regulation of donor:hydrogen-perox GO:2000470 oboInOwl:hasExactSynonym "positive regulation of peroxidase reaction" GO:2000470 oboInOwl:hasExactSynonym "positive regulation of oxyperoxidase activity" MONDO:0012810 oboInOwl:hasExactSynonym "ANIB7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0015000 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 48" MONDO:0015000 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 48" MONDO:0015000 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 48" MONDO:0015000 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 48; EIEE48" @@ -130252,6 +131395,7 @@ MONDO:0015000 oboInOwl:hasExactSynonym "EIEE48" http://purl.obolibrary.org/obo/m MONDO:0011048 oboInOwl:hasExactSynonym "Battaglia-Neri syndrome" MONDO:0008334 oboInOwl:hasExactSynonym "psoriasis 1, susceptibility to" MONDO:0008334 oboInOwl:hasExactSynonym "psoriasis caused by mutation in HLA-C" +MONDO:0008334 oboInOwl:hasExactSynonym "psoriasis susceptibility 1" MONDO:0008334 oboInOwl:hasExactSynonym "HLA-C psoriasis" MONDO:0009892 oboInOwl:hasExactSynonym "familial erythrocytosis 2" MONDO:0009892 oboInOwl:hasExactSynonym "Chuvash polycythemia" @@ -130290,6 +131434,7 @@ MONDO:0010702 oboInOwl:hasExactSynonym "Papillon-league-Psaume syndrome (formerl MONDO:0010702 oboInOwl:hasExactSynonym "Papillon-Léage-Psaume syndrome" MONDO:0010702 oboInOwl:hasExactSynonym "oral-facial-digital syndrome type 1" MONDO:0010702 oboInOwl:hasExactSynonym "orofaciodigital syndrome I" +MONDO:0010702 oboInOwl:hasExactSynonym "orofaciodigital syndrome i, X-linked dominant" MONDO:0010702 oboInOwl:hasExactSynonym "oral-facial-digital syndrome 1" MONDO:0010702 oboInOwl:hasExactSynonym "Papillon-Leage-Psaume syndrome" MONDO:0010702 oboInOwl:hasExactSynonym "OFD syndrome 1" @@ -130319,6 +131464,7 @@ GO:0060589 oboInOwl:hasExactSynonym "NTPase regulator activity" MONDO:0008555 oboInOwl:hasExactSynonym "thrombocytopenia 2" MONDO:0008555 oboInOwl:hasExactSynonym "thrombocytopenia type 2" MONDO:0009501 oboInOwl:hasExactSynonym "erythrocyte lactate transporter defect" +MONDO:0014668 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 13" MONDO:0014668 oboInOwl:hasExactSynonym "fatal infantile encephalocardiomyopathy caused by mutation in COA6" MONDO:0014668 oboInOwl:hasExactSynonym "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4" MONDO:0014668 oboInOwl:hasExactSynonym "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4" @@ -130411,12 +131557,12 @@ MONDO:0009324 oboInOwl:hasExactSynonym "neutral amino acid transport defect" MONDO:0009324 oboInOwl:hasExactSynonym "deficiency of tryptophan oxygenase" MONDO:0009324 oboInOwl:hasExactSynonym "aminoaciduria, Hartnup type" MONDO:0009324 oboInOwl:hasExactSynonym "Hartnup disease" +MONDO:0021331 oboInOwl:hasExactSynonym "carcinoma of the parotid gland" MONDO:0021331 oboInOwl:hasExactSynonym "carcinoma of parotid gland" MONDO:0021331 oboInOwl:hasExactSynonym "carcinoma of parotid" MONDO:0021331 oboInOwl:hasExactSynonym "carcinoma of the parotid" MONDO:0021331 oboInOwl:hasExactSynonym "parotid gland carcinoma" MONDO:0021331 oboInOwl:hasExactSynonym "parotid carcinoma" -MONDO:0021331 oboInOwl:hasExactSynonym "carcinoma of the parotid gland" MONDO:0005075 oboInOwl:hasExactSynonym "papillary carcinoma of thyroid" MONDO:0005075 oboInOwl:hasExactSynonym "papillary thyroid carcinoma" MONDO:0005075 oboInOwl:hasExactSynonym "papillary cancer of the thyroid gland" @@ -130446,6 +131592,7 @@ MONDO:0006815 oboInOwl:hasExactSynonym "malignant neoplasm of jejunum" MONDO:0042452 oboInOwl:hasExactSynonym "tertiary lesion of yaws" MONDO:0013197 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 14" MONDO:0013197 oboInOwl:hasExactSynonym "CMH14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013197 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 14" MONDO:0013197 oboInOwl:hasExactSynonym "cardiomyopathy familial hypertrophic 14" MONDO:0013197 oboInOwl:hasExactSynonym "MYH6 hypertrophic cardiomyopathy" MONDO:0013197 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy caused by mutation in MYH6" @@ -130457,6 +131604,7 @@ MONDO:0014143 oboInOwl:hasExactSynonym "NS8" http://purl.obolibrary.org/obo/mond MONDO:0014143 oboInOwl:hasExactSynonym "Noonan syndrome type 8" MONDO:0014143 oboInOwl:hasExactSynonym "Noonan syndrome caused by mutation in RIT1" MONDO:0010631 oboInOwl:hasExactSynonym "incontinentia pigmenti" +MONDO:0010631 oboInOwl:hasExactSynonym "incontinentia pigmenti, X-linked dominant" MONDO:0010631 oboInOwl:hasExactSynonym "Bloch-Siemens syndrome" MONDO:0010631 oboInOwl:hasExactSynonym "Incontinentia pigmenti syndrome" MONDO:0010631 oboInOwl:hasExactSynonym "Bloch-Sulzberger syndrome" @@ -130478,6 +131626,7 @@ MONDO:0022772 oboInOwl:hasExactSynonym "classic Kaposi's sarcoma" MONDO:0022772 oboInOwl:hasExactSynonym "Kaposi sarcoma classical type" MONDO:0022772 oboInOwl:hasExactSynonym "Kaposi sarcoma, classic" GO:0034097 oboInOwl:hasExactSynonym "response to cytokine stimulus" +MONDO:0011707 oboInOwl:hasExactSynonym "dyskinesia with orofacial involvement, autosomal dominant" MONDO:0011707 oboInOwl:hasExactSynonym "FDFM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013384 oboInOwl:hasExactSynonym "Hirschsprung disease caused by mutation in EDN3" MONDO:0013384 oboInOwl:hasExactSynonym "Hirschsprung disease, susceptibility to, 4" @@ -130531,11 +131680,13 @@ MONDO:0007098 oboInOwl:hasExactSynonym "amyloidosis, Cerebroarterial, Icelandic MONDO:0007098 oboInOwl:hasExactSynonym "cystatin amyloidosis" MONDO:0007098 oboInOwl:hasExactSynonym "HCHWA, Icelandic type" MONDO:0007098 oboInOwl:hasExactSynonym "amyloidosis VI" +MONDO:0007098 oboInOwl:hasExactSynonym "cerebral amyloid angiopathy" MONDO:0007098 oboInOwl:hasExactSynonym "hereditary cerebral hemorrhage with amyloidosis" MONDO:0004532 oboInOwl:hasExactSynonym "malignant neoplasm of auditory system" MONDO:0004532 oboInOwl:hasExactSynonym "auditory system cancer" MONDO:0004532 oboInOwl:hasExactSynonym "malignant auditory system neoplasm" MONDO:0004532 oboInOwl:hasExactSynonym "cancer of auditory system" +MONDO:0026730 oboInOwl:hasExactSynonym "Basilicata-Akhtar syndrome, X-linked dominant" MONDO:0003335 oboInOwl:hasExactSynonym "polyneuropathy, chronic" MONDO:0042979 oboInOwl:hasExactSynonym "hypokalemic periodic paralysis, type 1" MONDO:0020690 oboInOwl:hasExactSynonym "grade IV adult astrocytic tumor" @@ -130592,6 +131743,7 @@ MONDO:0008536 oboInOwl:hasExactSynonym "temperature-sensitive lethal mutation" MONDO:0002605 oboInOwl:hasExactSynonym "liver PEComa" MONDO:0002605 oboInOwl:hasExactSynonym "liver angiomyolipoma" MONDO:0012199 oboInOwl:hasExactSynonym "posterior polymorphous corneal dystrophy type 2" +MONDO:0012199 oboInOwl:hasExactSynonym "corneal dystrophy, posterior polymorphous 2" MONDO:0012199 oboInOwl:hasExactSynonym "COL8A2 posterior polymorphous corneal dystrophy" MONDO:0012199 oboInOwl:hasExactSynonym "corneal dystrophy, posterior polymorphous, type 2" MONDO:0012199 oboInOwl:hasExactSynonym "posterior polymorphous corneal dystrophy caused by mutation in COL8A2" @@ -130707,6 +131859,7 @@ MONDO:0007768 oboInOwl:hasExactSynonym "hyperparathyroidism type 2" MONDO:0007768 oboInOwl:hasExactSynonym "hyperparathyroidism 2 with jaw tumors" MONDO:0007768 oboInOwl:hasExactSynonym "hyperparathyroidism-2" MONDO:0007768 oboInOwl:hasExactSynonym "hyperparathyroidism-jaw tumor syndrome" +MONDO:0007768 oboInOwl:hasExactSynonym "parathyroid adenoma with cystic changes" MONDO:0007768 oboInOwl:hasExactSynonym "HPT-JT" MONDO:0060650 oboInOwl:hasExactSynonym "Leber congenital amaurosis with early-onset deafness" GO:0018130 oboInOwl:hasExactSynonym "heterocycle synthesis" @@ -130746,6 +131899,7 @@ MONDO:0021154 oboInOwl:hasExactSynonym "dermis disease or disorder" MONDO:0010475 oboInOwl:hasExactSynonym "X-linked central congenital hypothyroidism with late-onset macroorchidism" MONDO:0010475 oboInOwl:hasExactSynonym "IGSF1 deficiency syndrome" MONDO:0010475 oboInOwl:hasExactSynonym "central hypothyroidism and testicular enlargement" +MONDO:0010475 oboInOwl:hasExactSynonym "hypothyroidism, central, and testicular enlargement, X-linked recessive" MONDO:0010475 oboInOwl:hasExactSynonym "CHTE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010475 oboInOwl:hasExactSynonym "X-linked central congenital hypothyroidism with late-onset testicular enlargement" MONDO:0010475 oboInOwl:hasExactSynonym "hypothyroidism Central and testicular enlargement" @@ -130770,12 +131924,14 @@ MONDO:0016630 oboInOwl:hasExactSynonym "isolated delta-SPD" MONDO:0016630 oboInOwl:hasExactSynonym "isolated dense-storage pool disease" MONDO:0009697 oboInOwl:hasExactSynonym "Lafora's disease" MONDO:0009697 oboInOwl:hasExactSynonym "Lafora progressive myoclonic epilepsy" +MONDO:0009697 oboInOwl:hasExactSynonym "epilepsy, progressive myoclonic 2B (Lafora)" MONDO:0009697 oboInOwl:hasExactSynonym "PME type 2" MONDO:0009697 oboInOwl:hasExactSynonym "EPM2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009697 oboInOwl:hasExactSynonym "progressive myoclonus epilepsy type 2" MONDO:0009697 oboInOwl:hasExactSynonym "Lafora disease" MONDO:0009697 oboInOwl:hasExactSynonym "progressive myoclonic epilepsy type 2" MONDO:0009697 oboInOwl:hasExactSynonym "myoclonic epilepsy of Lafora" +MONDO:0009697 oboInOwl:hasExactSynonym "epilepsy, progressive myoclonic 2A (Lafora)" MONDO:0007263 oboInOwl:hasExactSynonym "arrhythmia" MONDO:0018204 oboInOwl:hasExactSynonym "dup(20)(q11.2)" MONDO:0001039 oboInOwl:hasExactSynonym "tonsil inflammation" @@ -130784,6 +131940,7 @@ MONDO:0001039 oboInOwl:hasExactSynonym "inflammation of tonsil" MONDO:0001039 oboInOwl:hasExactSynonym "chronic tonsillitis" MONDO:0001039 oboInOwl:hasExactSynonym "tonsilitis" MONDO:0013189 oboInOwl:hasExactSynonym "trichotillomania" +MONDO:0013189 oboInOwl:hasExactSynonym "trichotillomania, multifactorial" MONDO:0002597 oboInOwl:hasExactSynonym "notochord tumor" MONDO:0002597 oboInOwl:hasExactSynonym "cancer of notochord" MONDO:0002597 oboInOwl:hasExactSynonym "notochordal neoplasm" @@ -130813,6 +131970,7 @@ GO:0009247 oboInOwl:hasExactSynonym "glycolipid formation" GO:0009247 oboInOwl:hasExactSynonym "glycolipid anabolism" GO:0009247 oboInOwl:hasExactSynonym "glycolipid synthesis" GO:0009247 oboInOwl:hasExactSynonym "glycolipid biosynthesis" +MONDO:0033656 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 21" MONDO:0033656 oboInOwl:hasExactSynonym "MC4DN21" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003999 oboInOwl:hasExactSynonym "juvenile pilocytic astrocytoma" MONDO:0007450 oboInOwl:hasExactSynonym "pituitary gland diabetes insipidus" @@ -130894,6 +132052,7 @@ MONDO:0007042 oboInOwl:hasExactSynonym "SCS" http://purl.obolibrary.org/obo/mond MONDO:0007042 oboInOwl:hasExactSynonym "ACS3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007042 oboInOwl:hasExactSynonym "acrocephalosyndactyly type 3" MONDO:0007042 oboInOwl:hasExactSynonym "Saethre-Chotzen syndrome" +MONDO:0007042 oboInOwl:hasExactSynonym "Saethre-Chotzen syndrome with or without eyelid anomalies" MONDO:0012036 oboInOwl:hasExactSynonym "systemic lupus erythematosus, susceptibility to, 4" MONDO:0012036 oboInOwl:hasExactSynonym "SLEB4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013594 oboInOwl:hasExactSynonym "SCA36" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -130981,6 +132140,7 @@ MONDO:0009862 oboInOwl:hasExactSynonym "PKU type 2" MONDO:0009862 oboInOwl:hasExactSynonym "phenylketonuria type 2" MONDO:0009862 oboInOwl:hasExactSynonym "hyperphenylalaninemia, Bh4-deficient, type C" MONDO:0014081 oboInOwl:hasExactSynonym "SCID due to CARD11 deficiency" +MONDO:0014081 oboInOwl:hasExactSynonym "immunodeficiency 11A" MONDO:0014081 oboInOwl:hasExactSynonym "immunodeficiency type 11" MONDO:0044625 oboInOwl:hasExactSynonym "CMT2 due to DGAT2 mutation" MONDO:0014417 oboInOwl:hasExactSynonym "spinocerebellar ataxia type 38" @@ -131038,6 +132198,10 @@ MONDO:0003531 oboInOwl:hasExactSynonym "papillary eccrine carcinoma" MONDO:0011244 oboInOwl:hasExactSynonym "Marshall-Smith syndrome" MONDO:0011244 oboInOwl:hasExactSynonym "accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome" MONDO:0030908 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndromic, 35" +MONDO:0030908 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked, syndromic, 35, X-linked recessive" +MONDO:0044259 oboInOwl:hasExactSynonym "skin/hair/eye pigmentation 2, red hair/fair skin" +MONDO:0044259 oboInOwl:hasExactSynonym "skin/hair/eye pigmentation 2, blond hair/fair skin" +MONDO:0044259 oboInOwl:hasExactSynonym "UV-induced skin damage" MONDO:0019395 oboInOwl:hasExactSynonym "HS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019395 oboInOwl:hasExactSynonym "occult neuropathic bladder" MONDO:0019395 oboInOwl:hasExactSynonym "HAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -131181,6 +132345,7 @@ MONDO:0018048 oboInOwl:hasExactSynonym "HIT" http://purl.obolibrary.org/obo/mond MONDO:0004541 oboInOwl:hasExactSynonym "testicular seminoma, pseudoglandular variant" MONDO:0010467 oboInOwl:hasExactSynonym "Xq27.3-q28 microduplication syndrome" MONDO:0010467 oboInOwl:hasExactSynonym "trisomy Xq27.3q28" +MONDO:0010467 oboInOwl:hasExactSynonym "chromosome xq27.3-q28 duplication syndrome, X-linked recessive" MONDO:0010467 oboInOwl:hasExactSynonym "trisomy Xq27.3-q28" MONDO:0010467 oboInOwl:hasExactSynonym "dup(X)(q27.3q28)" MONDO:0020532 oboInOwl:hasExactSynonym "sodoku" @@ -131188,6 +132353,7 @@ MONDO:0020532 oboInOwl:hasExactSynonym "Spirillary fever" MONDO:0020532 oboInOwl:hasExactSynonym "sodoku disease" MONDO:0011580 oboInOwl:hasExactSynonym "cerebellar ataxia and hypergonadotropic hypogonadism" MONDO:0011918 oboInOwl:hasExactSynonym "anxiety" +MONDO:0011918 oboInOwl:hasExactSynonym "anxiety-related personality traits" MONDO:0010703 oboInOwl:hasExactSynonym "ornithine carbamoyltransferase deficiency" MONDO:0010703 oboInOwl:hasExactSynonym "OCT deficiency" MONDO:0010703 oboInOwl:hasExactSynonym "deficiency of citrulline phosphorylase" @@ -131297,14 +132463,14 @@ SO:0000704 oboInOwl:hasExactSynonym "INSDC_feature:gene" MONDO:0005722 oboInOwl:hasExactSynonym "acute laryngotracheobronchitis" MONDO:0005722 oboInOwl:hasExactSynonym "acute obstructive laryngitis" MONDO:0005722 oboInOwl:hasExactSynonym "croup syndrome" +MONDO:0001658 oboInOwl:hasExactSynonym "non-toxic simple goitre" MONDO:0001658 oboInOwl:hasExactSynonym "euthyroid goiter" MONDO:0001658 oboInOwl:hasExactSynonym "goiter, non-toxic" MONDO:0001658 oboInOwl:hasExactSynonym "non-toxic goiter" MONDO:0001658 oboInOwl:hasExactSynonym "nontoxic goiter" -MONDO:0001658 oboInOwl:hasExactSynonym "goitre, non-toxic" MONDO:0001658 oboInOwl:hasExactSynonym "Nodule-thyroid, non tox" +MONDO:0001658 oboInOwl:hasExactSynonym "goitre, non-toxic" MONDO:0001658 oboInOwl:hasExactSynonym "non-toxic goitre" -MONDO:0001658 oboInOwl:hasExactSynonym "non-toxic simple goitre" MONDO:0002604 oboInOwl:hasExactSynonym "perivascular neoplasm" MONDO:0002604 oboInOwl:hasExactSynonym "Pericytic neoplasm" MONDO:0002604 oboInOwl:hasExactSynonym "perivascular tumor" @@ -131358,10 +132524,12 @@ HP:0003401 oboInOwl:hasExactSynonym "Paresthesias" HP:0003401 oboInOwl:hasExactSynonym "Tingling" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0003401 oboInOwl:hasExactSynonym "Pins and needles feeling" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0014144 oboInOwl:hasExactSynonym "TRAPPC11 autosomal recessive limb-girdle muscular dystrophy" +MONDO:0014144 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal recessive 18" MONDO:0014144 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, type 2S" MONDO:0014144 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11" MONDO:0014144 oboInOwl:hasExactSynonym "LGMD2S" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010632 oboInOwl:hasExactSynonym "arx early infantile epileptic encephalopathy" +MONDO:0010632 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 1, X-linked recessive" MONDO:0010632 oboInOwl:hasExactSynonym "ARX early infantile epileptic encephalopathy" MONDO:0010632 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in ARX" MONDO:0010632 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in arx" @@ -131405,6 +132573,7 @@ MONDO:0010170 oboInOwl:hasExactSynonym "Usher syndrome type IIIA" MONDO:0010170 oboInOwl:hasExactSynonym "Usher syndrome caused by mutation in CLRN1" MONDO:0010170 oboInOwl:hasExactSynonym "USH3A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010170 oboInOwl:hasExactSynonym "CLRN1 Usher syndrome" +MONDO:0009901 oboInOwl:hasExactSynonym "popliteal pterygium syndrome, Bartsocas-Papas type 1" MONDO:0009901 oboInOwl:hasExactSynonym "Bartsocas-Papas syndrome" MONDO:0009901 oboInOwl:hasExactSynonym "lethal popliteal pterygium syndrome" MONDO:0009901 oboInOwl:hasExactSynonym "autosomal recessive popliteal pterygium syndrome" @@ -131412,6 +132581,7 @@ MONDO:0016442 oboInOwl:hasExactSynonym "Weidman juvenile elastoma" MONDO:0016442 oboInOwl:hasExactSynonym "juvenile elastoma without osteopoikilosis" MONDO:0016442 oboInOwl:hasExactSynonym "Nevus elasticus" MONDO:0013564 oboInOwl:hasExactSynonym "anhaptoglobinemia" +MONDO:0013564 oboInOwl:hasExactSynonym "hypohaptoglobinemia" CHEBI:16998 oboInOwl:hasExactSynonym "(2R)-2-amino-3-phenylpropanoic acid" CHEBI:16998 oboInOwl:hasExactSynonym "D-PHENYLALANINE" CHEBI:16998 oboInOwl:hasExactSynonym "D-phenylalanine" @@ -131444,8 +132614,8 @@ MONDO:0019068 oboInOwl:hasExactSynonym "neonatal glomerulopathy due to Neprilysi MONDO:0019068 oboInOwl:hasExactSynonym "neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency" MONDO:0019068 oboInOwl:hasExactSynonym "fetomaternal alloimmunization with antenatal glomerulopathies" MONDO:0002419 oboInOwl:hasExactSynonym "benign Tic disorder of childhood" -MONDO:0014834 oboInOwl:hasExactSynonym "dyskinesia, limb and orofacial, infantile-onset; IOLOD" MONDO:0014834 oboInOwl:hasExactSynonym "dyskinesia, limb and orofacial, infantile-onset" +MONDO:0014834 oboInOwl:hasExactSynonym "dyskinesia, limb and orofacial, infantile-onset; IOLOD" MONDO:0014834 oboInOwl:hasExactSynonym "IOLOD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019458 oboInOwl:hasExactSynonym "basophilic leukemia" MONDO:0019458 oboInOwl:hasExactSynonym "leukemia basophilic" @@ -131465,6 +132635,7 @@ GO:0060285 oboInOwl:hasExactSynonym "cilium cell motility" MONDO:0014957 oboInOwl:hasExactSynonym "language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia; LADCI" MONDO:0014957 oboInOwl:hasExactSynonym "language delay and attention Deficit-hyperactivity disorder/cognitive impairment with or without Cardiac arrhythmia" MONDO:0014957 oboInOwl:hasExactSynonym "LADCI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014957 oboInOwl:hasExactSynonym "language delay and ADHD/cognitive impairment with or without cardiac arrhythmia" NCBITaxon:10244 oboInOwl:hasExactSynonym "monkey pox virus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name MONDO:0013387 oboInOwl:hasExactSynonym "KCNQ2-NEE" MONDO:0013387 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 7" @@ -131473,23 +132644,25 @@ MONDO:0013387 oboInOwl:hasExactSynonym "KCNQ2-related epileptic encephalopathy" MONDO:0013387 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 7" MONDO:0013387 oboInOwl:hasExactSynonym "EIEE7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013387 oboInOwl:hasExactSynonym "KCNQ2-related neonatal epileptic encephalopathy" -MONDO:0005806 oboInOwl:hasExactSynonym "malignant neoplasm of posterior wall of hypopharynx" -MONDO:0005806 oboInOwl:hasExactSynonym "malignant neoplasm of posterior hypopharyngeal wall" +MONDO:0013387 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 7" +MONDO:0005806 oboInOwl:hasExactSynonym "malignant neoplasm of hypopharynx" +MONDO:0005806 oboInOwl:hasExactSynonym "hypopharynx pharynx cancer" MONDO:0005806 oboInOwl:hasExactSynonym "malignant hypopharyngeal neoplasm" -MONDO:0005806 oboInOwl:hasExactSynonym "malignant tumour of hypopharynx" -MONDO:0005806 oboInOwl:hasExactSynonym "pharynx cancer of hypopharynx" +MONDO:0005806 oboInOwl:hasExactSynonym "hypopharyngeal cancer" MONDO:0005806 oboInOwl:hasExactSynonym "malignant tumor of posterior wall of hypopharynx" -MONDO:0005806 oboInOwl:hasExactSynonym "malignant tumor of the hypopharynx" -MONDO:0005806 oboInOwl:hasExactSynonym "malignant neoplasm of ill-defined sites within the lip and oral cavity" +MONDO:0005806 oboInOwl:hasExactSynonym "malignant tumor of hypopharynx" +MONDO:0005806 oboInOwl:hasExactSynonym "malignant neoplasm of posterior hypopharyngeal wall" MONDO:0005806 oboInOwl:hasExactSynonym "hypural pharynx cancer" -MONDO:0005806 oboInOwl:hasExactSynonym "malignant neoplasm of other specified sites of hypopharynx" -MONDO:0005806 oboInOwl:hasExactSynonym "hypopharynx pharynx cancer" +MONDO:0005806 oboInOwl:hasExactSynonym "malignant tumour of hypopharynx" MONDO:0005806 oboInOwl:hasExactSynonym "malignant neoplasm of the hypopharynx" -MONDO:0005806 oboInOwl:hasExactSynonym "malignant neoplasm of hypopharynx" +MONDO:0005806 oboInOwl:hasExactSynonym "malignant neoplasm of posterior wall of hypopharynx" MONDO:0005806 oboInOwl:hasExactSynonym "malignant hypopharyngeal tumor" -MONDO:0005806 oboInOwl:hasExactSynonym "malignant tumor of hypopharynx" +MONDO:0005806 oboInOwl:hasExactSynonym "malignant neoplasm of other specified sites of hypopharynx" +MONDO:0005806 oboInOwl:hasExactSynonym "malignant neoplasm of ill-defined sites within the lip and oral cavity" +MONDO:0005806 oboInOwl:hasExactSynonym "malignant tumor of the hypopharynx" +MONDO:0005806 oboInOwl:hasExactSynonym "pharynx cancer of hypopharynx" MONDO:0005806 oboInOwl:hasExactSynonym "malignant neoplasm of other specified hypopharyngeal site" -MONDO:0005806 oboInOwl:hasExactSynonym "hypopharyngeal cancer" +MONDO:0014333 oboInOwl:hasExactSynonym "polymicrogyria, bilateral perisylvian" MONDO:0014333 oboInOwl:hasExactSynonym "polymicrogyria, bilateral perisylvian, autosomal recessive" MONDO:0004637 oboInOwl:hasExactSynonym "malignant neoplasm of aryepiglottic fold" MONDO:0004637 oboInOwl:hasExactSynonym "malignant aryepiglottic fold neoplasm" @@ -131573,6 +132746,7 @@ MONDO:0008758 oboInOwl:hasExactSynonym "Alpers-Huttenlocher syndrome" MONDO:0009704 oboInOwl:hasExactSynonym "CPTII, myopathic form" MONDO:0009704 oboInOwl:hasExactSynonym "CPTII, adult-onset form" MONDO:0009704 oboInOwl:hasExactSynonym "carnitine palmitoyl transferase II deficiency, myopathic form" +MONDO:0009704 oboInOwl:hasExactSynonym "CPT II deficiency, myopathic, stress-induced" MONDO:0009704 oboInOwl:hasExactSynonym "CPT2, myopathic form" MONDO:0009704 oboInOwl:hasExactSynonym "Carnitine palmitoyl transferase II deficiency, adult-onset form" MONDO:0009704 oboInOwl:hasExactSynonym "CPT2, adult-onset form" @@ -131613,9 +132787,10 @@ MONDO:0003501 oboInOwl:hasExactSynonym "external ear squamous cell carcinoma" MONDO:0003501 oboInOwl:hasExactSynonym "external Ear epidermoid carcinoma" MONDO:0006682 oboInOwl:hasExactSynonym "parsonage-Aldren-Turner syndrome" MONDO:0006682 oboInOwl:hasExactSynonym "brachial nerve plexus neuritis" -MONDO:0006682 oboInOwl:hasExactSynonym "neuritis of brachial nerve plexus" MONDO:0006682 oboInOwl:hasExactSynonym "brachial neuritis" +MONDO:0006682 oboInOwl:hasExactSynonym "neuritis of brachial nerve plexus" NCBITaxon:42408 oboInOwl:hasExactSynonym "white-throated woodrat" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name +MONDO:0011214 oboInOwl:hasExactSynonym "cholestasis, progressive familial intrahepatic 3" MONDO:0011214 oboInOwl:hasExactSynonym "ABCB4 progressive familial intrahepatic cholestasis" MONDO:0011214 oboInOwl:hasExactSynonym "PFIC3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011214 oboInOwl:hasExactSynonym "progressive familial intrahepatic cholestasis caused by mutation in ABCB4" @@ -131627,6 +132802,7 @@ MONDO:0014437 oboInOwl:hasExactSynonym "Bardet-Biedl syndrome type 9" MONDO:0014437 oboInOwl:hasExactSynonym "Bardet-Biedl syndrome 9" FOODON:00002655 oboInOwl:hasExactSynonym "peeled"@en CHEBI:35352 oboInOwl:hasExactSynonym "organonitrogen compounds" +MONDO:0008296 oboInOwl:hasExactSynonym "porphyria cutanea tarda, susceptibility to" MONDO:0008296 oboInOwl:hasExactSynonym "porphyria cutanea tarda type II" MONDO:0008296 oboInOwl:hasExactSynonym "hereditary porphyria cutanea tarda" HP:0001760 oboInOwl:hasExactSynonym "Abnormal feet structure" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -131639,6 +132815,8 @@ MONDO:0007099 oboInOwl:hasExactSynonym "hereditary amyloid nephropathy" MONDO:0007099 oboInOwl:hasExactSynonym "amyloidosis, familial renal" MONDO:0007099 oboInOwl:hasExactSynonym "familial renal amyloidosis" MONDO:0007099 oboInOwl:hasExactSynonym "familial amyloid nephropathy" +MONDO:0007099 oboInOwl:hasExactSynonym "amyloidosis, renal" +MONDO:0007099 oboInOwl:hasExactSynonym "amyloidosis, 3 or more types" MONDO:0007099 oboInOwl:hasExactSynonym "German type amyloidosis" MONDO:0007099 oboInOwl:hasExactSynonym "hereditary renal amyloidosis" MONDO:0007099 oboInOwl:hasExactSynonym "Ostertag type amyloidosis" @@ -131654,6 +132832,7 @@ MONDO:0010476 oboInOwl:hasExactSynonym "neurodegeneration with brain iron accumu MONDO:0010476 oboInOwl:hasExactSynonym "NBIA5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010476 oboInOwl:hasExactSynonym "neurodegeneration with brain iron accumulation type 5" MONDO:0010476 oboInOwl:hasExactSynonym "SENDA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010476 oboInOwl:hasExactSynonym "neurodegeneration with brain iron accumulation 5, X-linked dominant" MONDO:0005787 oboInOwl:hasExactSynonym "tuberculosis of liver" MONDO:0004533 oboInOwl:hasExactSynonym "perineural hemangioma" MONDO:0022606 oboInOwl:hasExactSynonym "pharyngeal system development disease" @@ -131695,14 +132874,17 @@ MONDO:0006181 oboInOwl:hasExactSynonym "carcinoma of the gastrointestinal system MONDO:0006181 oboInOwl:hasExactSynonym "gastrointestinal carcinoma" MONDO:0006181 oboInOwl:hasExactSynonym "digestive system carcinoma" MONDO:0012655 oboInOwl:hasExactSynonym "myoclonic epilepsy, juvenile, susceptibility to, 4" +MONDO:0012655 oboInOwl:hasExactSynonym "myoclonic epilepsy, juvenile, 4" MONDO:0012655 oboInOwl:hasExactSynonym "EJM4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002209 oboInOwl:hasExactSynonym "calcaneus exostosis" MONDO:0011401 oboInOwl:hasExactSynonym "Alzheimer disease 15" MONDO:0011401 oboInOwl:hasExactSynonym "Alzheimer disease without neurofibrillary tangles" MONDO:0011401 oboInOwl:hasExactSynonym "Alzheimer's disease 15" +MONDO:0011401 oboInOwl:hasExactSynonym "Alzheimer disease-15" MONDO:0011401 oboInOwl:hasExactSynonym "Alzheimer's disease type 15" MONDO:0011401 oboInOwl:hasExactSynonym "AD15" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009698 oboInOwl:hasExactSynonym "progressive myoclonic epilepsy type 1" +MONDO:0009698 oboInOwl:hasExactSynonym "epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)" MONDO:0009698 oboInOwl:hasExactSynonym "progressive myoclonus epilepsy type 1" MONDO:0009698 oboInOwl:hasExactSynonym "Unverricht's disease" MONDO:0009698 oboInOwl:hasExactSynonym "Unverricht - Lundborg disease" @@ -131711,6 +132893,7 @@ MONDO:0009698 oboInOwl:hasExactSynonym "ULD" http://purl.obolibrary.org/obo/mond MONDO:0009698 oboInOwl:hasExactSynonym "Unverricht-Lundborg syndrome" MONDO:0009698 oboInOwl:hasExactSynonym "Unverricht-Lundborg disease" MONDO:0013601 oboInOwl:hasExactSynonym "gluthathione peroxidase deficiency" +MONDO:0013601 oboInOwl:hasExactSynonym "hemolytic anemia due to glutathione peroxidase deficiency" MONDO:0002598 oboInOwl:hasExactSynonym "germinoma (disease)" MONDO:0002598 oboInOwl:hasExactSynonym "germinoma" CL:0019019 oboInOwl:hasExactSynonym "smooth muscle cell of tracheobronchial tree" @@ -131721,12 +132904,13 @@ HP:0000142 oboInOwl:hasExactSynonym "Vaginal malformation" MONDO:0006391 oboInOwl:hasExactSynonym "pyloric gland adenoma" MONDO:0006391 oboInOwl:hasExactSynonym "pyloric gastric gland adenoma" MONDO:0010663 oboInOwl:hasExactSynonym "mental retardation-hypotonic facies syndrome, X-linked, type 1" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010663 oboInOwl:hasExactSynonym "mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive" MONDO:0010663 oboInOwl:hasExactSynonym "intellectual disability-hypotonic facies syndrome, X-linked, type 1" CL:0002548 oboInOwl:hasExactSynonym "cardiac fibroblast" MONDO:0005974 oboInOwl:hasExactSynonym "Anguillulosis" -MONDO:0005974 oboInOwl:hasExactSynonym "Anguilluliasis" MONDO:0005974 oboInOwl:hasExactSynonym "disseminated strongyloidiasis" MONDO:0005974 oboInOwl:hasExactSynonym "infection by Strongyloides" +MONDO:0005974 oboInOwl:hasExactSynonym "Anguilluliasis" MONDO:0043678 oboInOwl:hasExactSynonym "inverted chromosome" MONDO:0043678 oboInOwl:hasExactSynonym "inv" MONDO:0043678 oboInOwl:hasExactSynonym "inversion" @@ -131749,6 +132933,7 @@ GO:0045906 oboInOwl:hasExactSynonym "down-regulation of vasoconstriction" GO:0045906 oboInOwl:hasExactSynonym "downregulation of vasoconstriction" GO:0045906 oboInOwl:hasExactSynonym "down regulation of vasoconstriction" MONDO:0012842 oboInOwl:hasExactSynonym "CMM7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012842 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, 7" MONDO:0012842 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, susceptibility to, 7" GO:0071708 oboInOwl:hasExactSynonym "immunoglobulin V-J joining" MONDO:0015032 oboInOwl:hasExactSynonym "intraneural perineurioma (WHO grade I)" @@ -131773,6 +132958,7 @@ CHEBI:16294 oboInOwl:hasExactSynonym "pyrimidine-2,4,6(1H,3H,5H)-trione" MONDO:0014959 oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant" MONDO:0014959 oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A" MONDO:0014959 oboInOwl:hasExactSynonym "MTDPS12A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014959 oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD" MONDO:0018426 oboInOwl:hasExactSynonym "AXIN2-related attenuated FAP" MONDO:0018426 oboInOwl:hasExactSynonym "AXIN2-related attenuated familial polyposis coli" MONDO:0018426 oboInOwl:hasExactSynonym "AXIN2-related AFAP" @@ -131810,6 +132996,7 @@ MONDO:0013424 oboInOwl:hasExactSynonym "monosomy 3pter" MONDO:0013424 oboInOwl:hasExactSynonym "3p- syndrome" MONDO:0013424 oboInOwl:hasExactSynonym "distal monosomy 3p" MONDO:0013424 oboInOwl:hasExactSynonym "distal 3p deletion" +MONDO:0010255 oboInOwl:hasExactSynonym "diabetes mellitus, insulin-dependent, X-linked" MONDO:0010255 oboInOwl:hasExactSynonym "diabetes mellitus, insulin-dependent, X-linked, susceptibility to" MONDO:0005219 oboInOwl:hasExactSynonym "fibrocystic change of the breast" MONDO:0005219 oboInOwl:hasExactSynonym "fibrocystic mastopathy" @@ -131914,6 +133101,7 @@ MONDO:0002880 oboInOwl:hasExactSynonym "ovarian adenosarcoma" MONDO:0007264 oboInOwl:hasExactSynonym "heart conduction disorder" MONDO:0007264 oboInOwl:hasExactSynonym "disorder of cardiac conduction" MONDO:0007264 oboInOwl:hasExactSynonym "cardiac conduction disorder" +MONDO:0007264 oboInOwl:hasExactSynonym "cardiac conduction defect, susceptibility to" MONDO:0007264 oboInOwl:hasExactSynonym "conduction disorder" MONDO:0016182 oboInOwl:hasExactSynonym "qualitative or quantitative defects of protein POMGNT1" MONDO:0015893 oboInOwl:hasExactSynonym "rare hypothyroidism" @@ -131932,6 +133120,7 @@ MONDO:0009863 oboInOwl:hasExactSynonym "hyperphenylalaninemia due to 6-pyruvoylt MONDO:0009863 oboInOwl:hasExactSynonym "BH4-deficient hyperphenylalaninemia A" MONDO:0009863 oboInOwl:hasExactSynonym "HPABH4A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014418 oboInOwl:hasExactSynonym "autosomal recessive centronuclear myopathy caused by mutation in SPEG" +MONDO:0014418 oboInOwl:hasExactSynonym "centronuclear myopathy 5" MONDO:0014418 oboInOwl:hasExactSynonym "myopathy, centronuclear, 5" MONDO:0014418 oboInOwl:hasExactSynonym "myopathy, centronuclear, type 5" MONDO:0014418 oboInOwl:hasExactSynonym "SPEG autosomal recessive centronuclear myopathy" @@ -131950,6 +133139,7 @@ MONDO:0004052 oboInOwl:hasExactSynonym "rectal transition zone carcinoma" MONDO:0004052 oboInOwl:hasExactSynonym "cloacogenic carcinoma of the rectum" MONDO:0004052 oboInOwl:hasExactSynonym "cloacogenic carcinoma of rectum" MONDO:0007451 oboInOwl:hasExactSynonym "diabetes insipidus, nephrogenic, autosomal" +MONDO:0007451 oboInOwl:hasExactSynonym "diabetes insipidus, nephrogenic, 2" GO:0051055 oboInOwl:hasExactSynonym "negative regulation of lipogenesis" GO:0051055 oboInOwl:hasExactSynonym "negative regulation of lipid formation" GO:0051055 oboInOwl:hasExactSynonym "negative regulation of lipid synthesis" @@ -131958,10 +133148,13 @@ GO:0051055 oboInOwl:hasExactSynonym "down regulation of lipid biosynthetic proce GO:0051055 oboInOwl:hasExactSynonym "downregulation of lipid biosynthetic process" GO:0051055 oboInOwl:hasExactSynonym "down-regulation of lipid biosynthetic process" GO:0051055 oboInOwl:hasExactSynonym "negative regulation of lipid anabolism" +MONDO:0100340 oboInOwl:hasExactSynonym "Friedreich ataxia with retained reflexes" MONDO:0100340 oboInOwl:hasExactSynonym "Friedreich ataxia 1" +MONDO:0100340 oboInOwl:hasExactSynonym "Friedreich ataxia" MONDO:0100340 oboInOwl:hasExactSynonym "Friedreich ataxia type 1" MONDO:0100340 oboInOwl:hasExactSynonym "FRDA1" MONDO:0030519 oboInOwl:hasExactSynonym "AGM9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011245 oboInOwl:hasExactSynonym "hystrix-like ichthyosis with deafness" MONDO:0001751 oboInOwl:hasExactSynonym "obstruction of bile duct" MONDO:0001751 oboInOwl:hasExactSynonym "bile occlusion" MONDO:0007654 oboInOwl:hasExactSynonym "genu valgum, st. Helena familial" @@ -131979,8 +133172,9 @@ MONDO:0008808 oboInOwl:hasExactSynonym "Bronspiegel-Zelnick syndrome" MONDO:0008808 oboInOwl:hasExactSynonym "autosomal recessive aplasia cutis" MONDO:0006721 oboInOwl:hasExactSynonym "tenosynovitis, de Quervain's" MONDO:0006721 oboInOwl:hasExactSynonym "radial styloid tenosynovitis" -MONDO:0030877 oboInOwl:hasExactSynonym "cardioacrofacial dysplasia 2" MONDO:0030877 oboInOwl:hasExactSynonym "CAFD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0030877 oboInOwl:hasExactSynonym "cardioacrofacial dysplasia 2" +MONDO:0030877 oboInOwl:hasExactSynonym "cardioacrofacial dysplasia 2, autosomal dominant, somatic mosaicism" GO:0010256 oboInOwl:hasExactSynonym "endomembrane system organisation" GO:0010256 oboInOwl:hasExactSynonym "endomembrane organization" MONDO:0007958 oboInOwl:hasExactSynonym "hereditary thyroid medullary carcinoma" @@ -131988,6 +133182,7 @@ MONDO:0007958 oboInOwl:hasExactSynonym "familial medullary thyroid carcinoma" MONDO:0007958 oboInOwl:hasExactSynonym "hereditary medullary thyroid gland carcinoma" MONDO:0007958 oboInOwl:hasExactSynonym "thyroid carcinoma, familial medullary" MONDO:0007958 oboInOwl:hasExactSynonym "familial MTC" +MONDO:0007958 oboInOwl:hasExactSynonym "medullary thyroid carcinoma" MONDO:0000992 oboInOwl:hasExactSynonym "heart rhythm disease" MONDO:0000992 oboInOwl:hasExactSynonym "disorder of cardiac conduction" MONDO:0000992 oboInOwl:hasExactSynonym "cardiac conduction disease" @@ -132018,6 +133213,7 @@ MONDO:0010689 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease X-linked rec MONDO:0010689 oboInOwl:hasExactSynonym "NADMR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010689 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease with deafness and intellectual disability" MONDO:0010689 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, X-linked recessive, 4" +MONDO:0010689 oboInOwl:hasExactSynonym "Cowchock syndrome, X-linked recessive" MONDO:0010689 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease with deafness and mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010689 oboInOwl:hasExactSynonym "CMTX4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010689 oboInOwl:hasExactSynonym "X-linked Charcot-Marie-Tooth disease type 4" @@ -132043,14 +133239,14 @@ MONDO:0004950 oboInOwl:hasExactSynonym "carcinoma of stomach" MONDO:0004950 oboInOwl:hasExactSynonym "Ca fundus - stomach" MONDO:0004950 oboInOwl:hasExactSynonym "stomach carcinoma" MONDO:0004950 oboInOwl:hasExactSynonym "malignant tumor of fundus of stomach" +GO:0051953 oboInOwl:hasExactSynonym "down-regulation of amine transport" +GO:0051953 oboInOwl:hasExactSynonym "downregulation of amine transport" +GO:0051953 oboInOwl:hasExactSynonym "down regulation of amine transport" MONDO:0014692 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation in BBS2" MONDO:0014692 oboInOwl:hasExactSynonym "RP74" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014692 oboInOwl:hasExactSynonym "BBS2 retinitis pigmentosa" MONDO:0014692 oboInOwl:hasExactSynonym "retinitis pigmentosa type 74" MONDO:0014692 oboInOwl:hasExactSynonym "retinitis pigmentosa 74" -GO:0051953 oboInOwl:hasExactSynonym "down-regulation of amine transport" -GO:0051953 oboInOwl:hasExactSynonym "downregulation of amine transport" -GO:0051953 oboInOwl:hasExactSynonym "down regulation of amine transport" GO:0001523 oboInOwl:hasExactSynonym "retinoid metabolism" MONDO:0019793 oboInOwl:hasExactSynonym "ADCAIII" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019793 oboInOwl:hasExactSynonym "Pure cerebellar syndrome-mild pyramidal signs syndrome" @@ -132071,6 +133267,7 @@ MONDO:0012239 oboInOwl:hasExactSynonym "Nem1" MONDO:0020730 oboInOwl:hasExactSynonym "CTS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020730 oboInOwl:hasExactSynonym "amyotrophy, thenar, of carpal origin" MONDO:0020730 oboInOwl:hasExactSynonym "carpal tunnel syndrome" +MONDO:0020730 oboInOwl:hasExactSynonym "carpal tunnel syndrome, familial" MONDO:0000584 oboInOwl:hasExactSynonym "BLNK deficiency" MONDO:0000584 oboInOwl:hasExactSynonym "B-cell linker protein deficiency" MONDO:0006487 oboInOwl:hasExactSynonym "vaginal adenoid cystic cancer" @@ -132079,7 +133276,11 @@ MONDO:0009713 oboInOwl:hasExactSynonym "myopia 18, autosomal recessive" MONDO:0009713 oboInOwl:hasExactSynonym "MYP18" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0023122 oboInOwl:hasExactSynonym "hereditary prostate carcinoma" MONDO:0023122 oboInOwl:hasExactSynonym "hereditary prostate cancer" +MONDO:0023122 oboInOwl:hasExactSynonym "prostate cancer, susceptibility to, autosomal dominant, somatic mutation" +MONDO:0023122 oboInOwl:hasExactSynonym "prostate cancer, autosomal dominant, somatic mutation" +MONDO:0023122 oboInOwl:hasExactSynonym "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation" MONDO:0023122 oboInOwl:hasExactSynonym "familial prostate cancer" +MONDO:0023122 oboInOwl:hasExactSynonym "prostate cancer, somatic" MONDO:0011717 oboInOwl:hasExactSynonym "hyperinsulinemic hypoglycemia, familial, type 6" MONDO:0011717 oboInOwl:hasExactSynonym "GLUD1 hyperinsulinism" MONDO:0011717 oboInOwl:hasExactSynonym "hi/HA syndrome" @@ -132136,12 +133337,16 @@ MONDO:0001353 oboInOwl:hasExactSynonym "Bordetella parapertussis disease or diso MONDO:0001353 oboInOwl:hasExactSynonym "infection due to Bordetella parapertussis" MONDO:0007256 oboInOwl:hasExactSynonym "carcinoma, hepatocellular, malignant" MONDO:0007256 oboInOwl:hasExactSynonym "hepatocellular carcinoma" +MONDO:0007256 oboInOwl:hasExactSynonym "hepatocellular carcinoma, somatic" MONDO:0007256 oboInOwl:hasExactSynonym "hepatocellular adenocarcinoma" +MONDO:0007256 oboInOwl:hasExactSynonym "hepatoblastoma, somatic" MONDO:0007256 oboInOwl:hasExactSynonym "liver carcinoma" MONDO:0007256 oboInOwl:hasExactSynonym "primary carcinoma of liver cells" MONDO:0007256 oboInOwl:hasExactSynonym "hepatoma" MONDO:0007256 oboInOwl:hasExactSynonym "liver cell cancer (hepatocellular carcinoma)" MONDO:0007256 oboInOwl:hasExactSynonym "primary carcinoma of the liver cells" +MONDO:0007256 oboInOwl:hasExactSynonym "hepatocellular carcinoma, childhood type, somatic" +MONDO:0007256 oboInOwl:hasExactSynonym "hepatocellular cancer, somatic" MONDO:0007256 oboInOwl:hasExactSynonym "carcinoma of the liver cells" MONDO:0007256 oboInOwl:hasExactSynonym "liver cell carcinoma" MONDO:0007256 oboInOwl:hasExactSynonym "hepatocellular cancer" @@ -132187,13 +133392,19 @@ MONDO:0012812 oboInOwl:hasExactSynonym "EIEE4" http://purl.obolibrary.org/obo/mo MONDO:0012812 oboInOwl:hasExactSynonym "STXBP1 early infantile epileptic encephalopathy" MONDO:0012812 oboInOwl:hasExactSynonym "DEE4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012812 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in STXBP1" +MONDO:0012812 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 4" PATO:0002299 oboInOwl:hasExactSynonym "tubulate" PATO:0002299 oboInOwl:hasExactSynonym "tube-shaped" PATO:0002299 oboInOwl:hasExactSynonym "tube like" MONDO:0015706 oboInOwl:hasExactSynonym "trisomy 1 mosaicism" MONDO:0015706 oboInOwl:hasExactSynonym "Mosaic trisomy chromosome 1" MONDO:0015706 oboInOwl:hasExactSynonym "Mosaic trisomy type 1" +MONDO:0030909 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked, syndromic, Houge type" MONDO:0030909 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndromic, Houge type" +MONDO:0005298 oboInOwl:hasExactSynonym "bone mineral density variation QTL, osteoporosis" +MONDO:0005298 oboInOwl:hasExactSynonym "osteoporosis, postmenopausal, susceptibility" +MONDO:0005298 oboInOwl:hasExactSynonym "osteoporosis, susceptibility to" +MONDO:0005298 oboInOwl:hasExactSynonym "osteoporosis, postmenopausal" MONDO:0009230 oboInOwl:hasExactSynonym "fibrosclerosis, multifocal" MONDO:0013229 oboInOwl:hasExactSynonym "hot water epilepsy" MONDO:0013229 oboInOwl:hasExactSynonym "epilepsy, hot water" @@ -132231,6 +133442,7 @@ MONDO:0010704 oboInOwl:hasExactSynonym "oto-palato-digital syndrome type 1" MONDO:0010704 oboInOwl:hasExactSynonym "otopalatodigital syndrome, type 1" MONDO:0010704 oboInOwl:hasExactSynonym "OPD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010704 oboInOwl:hasExactSynonym "Taybi syndrome" +MONDO:0010704 oboInOwl:hasExactSynonym "otopalatodigital syndrome, type I, X-linked dominant" MONDO:0010704 oboInOwl:hasExactSynonym "OPD 1 syndrome" MONDO:0010704 oboInOwl:hasExactSynonym "OPD syndrome 1" MONDO:0010704 oboInOwl:hasExactSynonym "otopalatodigital syndrome, type I" @@ -132254,10 +133466,12 @@ MONDO:0019467 oboInOwl:hasExactSynonym "lymphoblastoid variant of NK-cell lympho MONDO:0019467 oboInOwl:hasExactSynonym "blastic plasmacytoid Dendritic cell neoplasm" MONDO:0019467 oboInOwl:hasExactSynonym "agranular CD4+ CD56+ hematodermic neoplasm/tumor" MONDO:0019467 oboInOwl:hasExactSynonym "primary cutaneous CD4+/CD56+ hematolymphoid neoplasm" +MONDO:0008557 oboInOwl:hasExactSynonym "thrombocytopenia, Paris-Trousseau type, Isolated cases" MONDO:0009503 oboInOwl:hasExactSynonym "pyruvate dehydrogenase E3-binding protein deficiency" MONDO:0009503 oboInOwl:hasExactSynonym "pyruvate dehydrogenase protein X component deficiency" MONDO:0009503 oboInOwl:hasExactSynonym "dihydrolipoyl dehydrogenase deficiency" MONDO:0009503 oboInOwl:hasExactSynonym "branched chain alpha-ketoacid dehydrogenase complex deficiency" +MONDO:0009503 oboInOwl:hasExactSynonym "lacticacidemia due to PDX1 deficiency" MONDO:0009503 oboInOwl:hasExactSynonym "lipoamide dehydrogenase deficiency" MONDO:0009503 oboInOwl:hasExactSynonym "2-oxoglutarate complex deficiency" MONDO:0009503 oboInOwl:hasExactSynonym "Glycine cleavage system L protein deficiency" @@ -132356,6 +133570,7 @@ MONDO:0006817 oboInOwl:hasExactSynonym "juxtacortical osteogenic sarcoma" MONDO:0002568 oboInOwl:hasExactSynonym "stenosis of trachea" MONDO:0013199 oboInOwl:hasExactSynonym "tuberous sclerosis type 2" MONDO:0013199 oboInOwl:hasExactSynonym "tuberous sclerosis 2" +MONDO:0013199 oboInOwl:hasExactSynonym "tuberous sclerosis-2" MONDO:0014145 oboInOwl:hasExactSynonym "LCA17" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014145 oboInOwl:hasExactSynonym "Leber congenital amaurosis type 17" MONDO:0014145 oboInOwl:hasExactSynonym "Leber congenital amaurosis caused by mutation in GDF6" @@ -132366,6 +133581,7 @@ MONDO:0002828 oboInOwl:hasExactSynonym "Bartholin gland transitional cell carcin MONDO:0002828 oboInOwl:hasExactSynonym "major vestibular gland transitional cell carcinoma" MONDO:0002828 oboInOwl:hasExactSynonym "Bartholin's gland transitional cell carcinoma" MONDO:0008266 oboInOwl:hasExactSynonym "polydactyly, postaxial, type A1" +MONDO:0008266 oboInOwl:hasExactSynonym "polydactyly, postaxial, types A1 and B" MONDO:0012814 oboInOwl:hasExactSynonym "diastasis recti and weakness of the linea alba" MONDO:0017914 oboInOwl:hasExactSynonym "Pure or complicated autosomal dominant spastic paraplegia" MONDO:0007421 oboInOwl:hasExactSynonym "Sellars-Beighton syndrome" @@ -132409,6 +133625,7 @@ MONDO:0044633 oboInOwl:hasExactSynonym "IPPFE" http://purl.obolibrary.org/obo/mo GO:1903960 oboInOwl:hasExactSynonym "down regulation of anion transmembrane transport" GO:1903960 oboInOwl:hasExactSynonym "down-regulation of anion transmembrane transport" GO:1903960 oboInOwl:hasExactSynonym "downregulation of anion transmembrane transport" +MONDO:0015002 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 49" MONDO:0015002 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in DENND5A" MONDO:0015002 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 49" MONDO:0015002 oboInOwl:hasExactSynonym "DENND5A early infantile epileptic encephalopathy" @@ -132427,12 +133644,14 @@ MONDO:0009894 oboInOwl:hasExactSynonym "short rib-polydactyly syndrome type II" MONDO:0009894 oboInOwl:hasExactSynonym "SRTD6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009894 oboInOwl:hasExactSynonym "short rib-polydactyly syndrome type IIA" MONDO:0007850 oboInOwl:hasExactSynonym "KID syndrome, autosomal dominant" +MONDO:0007850 oboInOwl:hasExactSynonym "keratitis-ichthyosis -deafness syndrome" MONDO:0007850 oboInOwl:hasExactSynonym "autosomal dominant KID syndrome" MONDO:0014835 oboInOwl:hasExactSynonym "striatal Degeneration, autosomal dominant 2" MONDO:0014835 oboInOwl:hasExactSynonym "striatal degeneration, autosomal dominant 2; ADSD2" MONDO:0014835 oboInOwl:hasExactSynonym "ADSD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014835 oboInOwl:hasExactSynonym "striatal degeneration, autosomal dominant caused by mutation in PDE10A" MONDO:0014835 oboInOwl:hasExactSynonym "PDE10A striatal degeneration, autosomal dominant" +MONDO:0014835 oboInOwl:hasExactSynonym "striatal degeneration, autosomal dominant" MONDO:0014835 oboInOwl:hasExactSynonym "striatal Degeneration, autosomal dominant type 2" GO:0045577 oboInOwl:hasExactSynonym "regulation of B-lymphocyte differentiation" GO:0045577 oboInOwl:hasExactSynonym "regulation of B lymphocyte differentiation" @@ -132519,6 +133738,7 @@ MONDO:0006329 oboInOwl:hasExactSynonym "paranasal sinus olfactory neuroblastoma" MONDO:0006329 oboInOwl:hasExactSynonym "esthesioneuroblastoma (morphologic abnormality)" MONDO:0006329 oboInOwl:hasExactSynonym "Asthesioneuroblastoma" MONDO:0010635 oboInOwl:hasExactSynonym "ANOS1 hypogonadotropic hypogonadism" +MONDO:0010635 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessive" MONDO:0010635 oboInOwl:hasExactSynonym "dysplasia olfactogenitalis of de Morsier" MONDO:0010635 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 1 with or without anosmia" MONDO:0010635 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism caused by mutation in ANOS1" @@ -132528,6 +133748,7 @@ MONDO:0009529 oboInOwl:hasExactSynonym "DLD deficiency" MONDO:0009529 oboInOwl:hasExactSynonym "E3-deficient maple syrup urine disease" MONDO:0009529 oboInOwl:hasExactSynonym "dihydrolipoamide dehydrogenase deficiency" MONDO:0009529 oboInOwl:hasExactSynonym "pyruvate dehydrogenase E3 deficiency" +MONDO:0008759 oboInOwl:hasExactSynonym "oxoglutarate dehydrogenase deficiency" MONDO:0008759 oboInOwl:hasExactSynonym "Alpha-ketoglutarate dehydrogenase deficiency" MONDO:0009705 oboInOwl:hasExactSynonym "hepatic carnitine palmitoyl transferase I deficiency" MONDO:0009705 oboInOwl:hasExactSynonym "hepatic CPT deficiency type I" @@ -132536,6 +133757,7 @@ MONDO:0009705 oboInOwl:hasExactSynonym "carnitine palmitoyl transferase 1A defic MONDO:0009705 oboInOwl:hasExactSynonym "hepatic carnitine palmitoyl transferase 1 deficiency" MONDO:0009705 oboInOwl:hasExactSynonym "L-CPTI deficiency" MONDO:0009705 oboInOwl:hasExactSynonym "CPT I deficiency" +MONDO:0009705 oboInOwl:hasExactSynonym "cpt deficiency, hepatic, type IA" MONDO:0009705 oboInOwl:hasExactSynonym "CPT1A disorder of carnitine cycle and carnitine transport" MONDO:0009705 oboInOwl:hasExactSynonym "carnitine palmitoyltransferase I deficiency" MONDO:0009705 oboInOwl:hasExactSynonym "carnitine palmitoyl transferase IA deficiency" @@ -132543,6 +133765,7 @@ MONDO:0009705 oboInOwl:hasExactSynonym "CPT1A deficiency" MONDO:0009705 oboInOwl:hasExactSynonym "disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A" MONDO:0009705 oboInOwl:hasExactSynonym "L-CPT1 deficiency" MONDO:0020849 oboInOwl:hasExactSynonym "IMMUNODEFICIENCY 57" +MONDO:0020849 oboInOwl:hasExactSynonym "immunodeficiency 57 with autoinflammation" MONDO:0020849 oboInOwl:hasExactSynonym "IMD57" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100310 oboInOwl:hasExactSynonym "hereditary cerebellar ataxia" MONDO:0100310 oboInOwl:hasExactSynonym "cerebellar hereditary ataxia" @@ -132569,12 +133792,12 @@ MONDO:0000741 oboInOwl:hasExactSynonym "commissural cheilitis" MONDO:0000741 oboInOwl:hasExactSynonym "angle of oral opening cheilitis" MONDO:0000741 oboInOwl:hasExactSynonym "cheilitis of angle of oral opening" MONDO:0000741 oboInOwl:hasExactSynonym "perleche" -MONDO:0017593 oboInOwl:hasExactSynonym "juvenile Charcot disease" -MONDO:0017593 oboInOwl:hasExactSynonym "JALS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0017593 oboInOwl:hasExactSynonym "juvenile Lou Gehrig disease" GO:1903781 oboInOwl:hasExactSynonym "up-regulation of cardiac conduction" GO:1903781 oboInOwl:hasExactSynonym "up regulation of cardiac conduction" GO:1903781 oboInOwl:hasExactSynonym "upregulation of cardiac conduction" +MONDO:0017593 oboInOwl:hasExactSynonym "juvenile Charcot disease" +MONDO:0017593 oboInOwl:hasExactSynonym "JALS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0017593 oboInOwl:hasExactSynonym "juvenile Lou Gehrig disease" MONDO:0004230 oboInOwl:hasExactSynonym "adenomatoid tumor (morphologic abnormality)" MONDO:0004230 oboInOwl:hasExactSynonym "benign localized epithelial mesothelioma" MONDO:0004230 oboInOwl:hasExactSynonym "adenomatoid tumor, benign" @@ -132674,6 +133897,7 @@ MONDO:0014438 oboInOwl:hasExactSynonym "BBS10" http://purl.obolibrary.org/obo/mo MONDO:0014438 oboInOwl:hasExactSynonym "Bardet-Biedl syndrome caused by mutation in BBS10" MONDO:0010000 oboInOwl:hasExactSynonym "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction" MONDO:0008297 oboInOwl:hasExactSynonym "Protocoproporphyria" +MONDO:0008297 oboInOwl:hasExactSynonym "porphyria variegata, susceptibility to" MONDO:0008297 oboInOwl:hasExactSynonym "variegate porphyria" MONDO:0008297 oboInOwl:hasExactSynonym "protoporphyrinogen oxidase deficiency" MONDO:0018362 oboInOwl:hasExactSynonym "PIFP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -132684,6 +133908,7 @@ MONDO:0005788 oboInOwl:hasExactSynonym "Hepatitis E virus hepatitis" MONDO:0005788 oboInOwl:hasExactSynonym "hepatitis type E" MONDO:0004534 oboInOwl:hasExactSynonym "microglandular adenosis of the breast" MONDO:0004534 oboInOwl:hasExactSynonym "breast microglandular adenosis" +MONDO:0026732 oboInOwl:hasExactSynonym "hypothyroidism, congenital, nongoitrous, 9, X-linked recessive" MONDO:0030847 oboInOwl:hasExactSynonym "arthrogryposis, distal, type 1C" MONDO:0030847 oboInOwl:hasExactSynonym "DA1C" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013825 oboInOwl:hasExactSynonym "congenital diarrhea type 6" @@ -132692,11 +133917,14 @@ MONDO:0013825 oboInOwl:hasExactSynonym "GUCY2C congenital diarrhea" MONDO:0013825 oboInOwl:hasExactSynonym "diarrhea type 6" MONDO:0013825 oboInOwl:hasExactSynonym "congenital diarrhea caused by mutation in GUCY2C" MONDO:0020692 oboInOwl:hasExactSynonym "spondylocostal dysostosis 1, autosomal recessive" +MONDO:0011573 oboInOwl:hasExactSynonym "psoriasis, protection against" MONDO:0011573 oboInOwl:hasExactSynonym "PSORS7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011573 oboInOwl:hasExactSynonym "psoriasis 7, susceptibility to" +MONDO:0011573 oboInOwl:hasExactSynonym "psoriasis susceptibility 7" MONDO:0012656 oboInOwl:hasExactSynonym "lethal congenital contracture syndrome caused by mutation in PIP5K1C" MONDO:0012656 oboInOwl:hasExactSynonym "Israeli Bedouin type B multiple contracture syndrome" MONDO:0012656 oboInOwl:hasExactSynonym "lethal congenital contracture syndrome 3" +MONDO:0012656 oboInOwl:hasExactSynonym "lethal congenital contractural syndrome 3" MONDO:0012656 oboInOwl:hasExactSynonym "LCCS3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012656 oboInOwl:hasExactSynonym "lethal congenital contracture syndrome type 3" MONDO:0012656 oboInOwl:hasExactSynonym "PIP5K1C lethal congenital contracture syndrome" @@ -132753,6 +133981,7 @@ MONDO:0019624 oboInOwl:hasExactSynonym "acquired non histamine-induced angioedem MONDO:0019624 oboInOwl:hasExactSynonym "acquired C1 inhibitor deficiency" MONDO:0019624 oboInOwl:hasExactSynonym "acquired bradykinine-induced angioedema" MONDO:0024650 oboInOwl:hasExactSynonym "drug-induced osteoporosis" +MONDO:0013388 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 11" MONDO:0013388 oboInOwl:hasExactSynonym "EIEE11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013388 oboInOwl:hasExactSynonym "SCN2A early infantile epileptic encephalopathy" MONDO:0013388 oboInOwl:hasExactSynonym "DEE11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -132778,6 +134007,7 @@ MONDO:0015254 oboInOwl:hasExactSynonym "bilharziasis" MONDO:0015254 oboInOwl:hasExactSynonym "snail fever" MONDO:0015254 oboInOwl:hasExactSynonym "Bilharzia" MONDO:0035375 oboInOwl:hasExactSynonym "MIS-C/A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010256 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 21, X-linked recessive" MONDO:0010256 oboInOwl:hasExactSynonym "mental retardation, X-linked type 21" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010256 oboInOwl:hasExactSynonym "non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1" MONDO:0010256 oboInOwl:hasExactSynonym "intellectual disability, X-linked 21" @@ -132840,6 +134070,7 @@ MONDO:0003710 oboInOwl:hasExactSynonym "ovarian mixed germ cell neoplasm" MONDO:0003710 oboInOwl:hasExactSynonym "ovarian mixed germ cell tumor" MONDO:0010477 oboInOwl:hasExactSynonym "X-linked Ohdo syndrome" MONDO:0010477 oboInOwl:hasExactSynonym "BMRS, Maat-Kievit-Brunner type" +MONDO:0010477 oboInOwl:hasExactSynonym "Ohdo syndrome, X-linked, X-linked recessive" MONDO:0010477 oboInOwl:hasExactSynonym "BMRS, MKB type" MONDO:0010477 oboInOwl:hasExactSynonym "blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type" GO:0050866 oboInOwl:hasExactSynonym "down-regulation of cell activation" @@ -132868,6 +134099,7 @@ MONDO:0006182 oboInOwl:hasExactSynonym "mixed Adenoneuroendocrine carcinoma" MONDO:0006182 oboInOwl:hasExactSynonym "gastrointestinal MANEC" MONDO:0006182 oboInOwl:hasExactSynonym "gastrointestinal mixed Adenoneuroendocrine carcinoma" MONDO:0006182 oboInOwl:hasExactSynonym "digestive system mixed adenoneuroendocrine carcinoma" +MONDO:0009699 oboInOwl:hasExactSynonym "epilepsy, progressive myoclonic 4, with or without renal failure" MONDO:0009699 oboInOwl:hasExactSynonym "EPM4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009699 oboInOwl:hasExactSynonym "AMRF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009699 oboInOwl:hasExactSynonym "action myoclonus-renal failure syndrome" @@ -132876,6 +134108,7 @@ MONDO:0009699 oboInOwl:hasExactSynonym "progressive myoclonic epilepsy type 4" MONDO:0007265 oboInOwl:hasExactSynonym "cardiofaciocutaneous syndrome caused by mutation in BRAF" MONDO:0007265 oboInOwl:hasExactSynonym "cardiofaciocutaneous syndrome type 1" MONDO:0007265 oboInOwl:hasExactSynonym "BRAF cardiofaciocutaneous syndrome" +MONDO:0007265 oboInOwl:hasExactSynonym "cardiofaciocutaneous syndrome" MONDO:0007265 oboInOwl:hasExactSynonym "cardiofaciocutaneous syndrome 1" MONDO:0006011 oboInOwl:hasExactSynonym "Hepatitis viral" MONDO:0006011 oboInOwl:hasExactSynonym "Viruses hepatitis" @@ -132902,10 +134135,12 @@ GO:0045168 oboInOwl:hasExactSynonym "cell-cell signaling during in cell fate com GO:0045168 oboInOwl:hasExactSynonym "cell-cell signaling resulting in cell fate commitment" GO:0045168 oboInOwl:hasExactSynonym "cell-cell signalling resulting in cell fate commitment" MONDO:0011081 oboInOwl:hasExactSynonym "Collins-Pope syndrome" +MONDO:0013050 oboInOwl:hasExactSynonym "growth retardation, developmental delay, facial dysmorphism" MONDO:0010664 oboInOwl:hasExactSynonym "Snyder-Robinson syndrome" MONDO:0010664 oboInOwl:hasExactSynonym "mental retardation, X-linked, Snyder-Robinson type" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010664 oboInOwl:hasExactSynonym "intellectual disability, X-linked, Snyder-Robinson type" MONDO:0010664 oboInOwl:hasExactSynonym "Snyder-Robinson mental retardation syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010664 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessive" MONDO:0010664 oboInOwl:hasExactSynonym "syndromic X-linked intellectual disability Snyder type" MONDO:0010664 oboInOwl:hasExactSynonym "spermine synthase deficiency" MONDO:0010664 oboInOwl:hasExactSynonym "SRS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -132959,14 +134194,18 @@ MONDO:0013425 oboInOwl:hasExactSynonym "RP20" http://purl.obolibrary.org/obo/mon MONDO:0013425 oboInOwl:hasExactSynonym "RPE65 retinitis pigmentosa" MONDO:0013425 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation in RPE65" MONDO:0013425 oboInOwl:hasExactSynonym "retinitis pigmentosa type 20" +MONDO:0007959 oboInOwl:hasExactSynonym "medulloblastoma, somatic" MONDO:0007959 oboInOwl:hasExactSynonym "cerebellum embryonal neoplasm" MONDO:0007959 oboInOwl:hasExactSynonym "medulloblastomas" +MONDO:0007959 oboInOwl:hasExactSynonym "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation" MONDO:0007959 oboInOwl:hasExactSynonym "medulloblastoma" +MONDO:0007959 oboInOwl:hasExactSynonym "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation" MONDO:0007959 oboInOwl:hasExactSynonym "medulloblastoma, malignant" MONDO:0007959 oboInOwl:hasExactSynonym "brain medulloblastoma" SO:0000831 oboInOwl:hasExactSynonym "gene member region" MONDO:0013761 oboInOwl:hasExactSynonym "childhood encephalopathy due to thiamine pyrophosphokinase deficiency" MONDO:0032811 oboInOwl:hasExactSynonym "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I" +MONDO:0032811 oboInOwl:hasExactSynonym "night blindness, congenital stationary, type 1I" MONDO:0032811 oboInOwl:hasExactSynonym "CSNB1I" http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP:0007378 oboInOwl:hasExactSynonym "Gastrointestinal tract tumor" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0007378 oboInOwl:hasExactSynonym "Gastrointestinal tract neoplasm" @@ -132999,8 +134238,8 @@ MONDO:0015059 oboInOwl:hasExactSynonym "Primary Progressive Nonfluent aphasia" MONDO:0015059 oboInOwl:hasExactSynonym "non-fluent variant PPA" MONDO:0015059 oboInOwl:hasExactSynonym "Agramatic variant of primary progressive aphasia" HP:0002450 oboInOwl:hasExactSynonym "Abnormal shape of motor neuron" http://purl.obolibrary.org/obo/hp.obo#layperson -MONDO:0018458 oboInOwl:hasExactSynonym "familial benign hypocalciuric hypercalcemia" MONDO:0018458 oboInOwl:hasExactSynonym "familial benign hypercalcemia" +MONDO:0018458 oboInOwl:hasExactSynonym "familial benign hypocalciuric hypercalcemia" MONDO:0001987 oboInOwl:hasExactSynonym "Senile brain degen." MONDO:0005086 oboInOwl:hasExactSynonym "kidney adenocarcinoma" MONDO:0005086 oboInOwl:hasExactSynonym "hypernephroma" @@ -133019,6 +134258,7 @@ MONDO:0013310 oboInOwl:hasExactSynonym "congenital adrenal hyperplasia due to cy MONDO:0013310 oboInOwl:hasExactSynonym "POR deficiency" MONDO:0013310 oboInOwl:hasExactSynonym "PORD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0060496 oboInOwl:hasExactSynonym "neurodevelopmental disorder with hypotonia, neuropathy, and deafness" +MONDO:0009864 oboInOwl:hasExactSynonym "PEPCK deficiency, mitochondrial" MONDO:0009864 oboInOwl:hasExactSynonym "phosphoenolpyruvate carboxykinase deficiency, mitochondrial" MONDO:0011718 oboInOwl:hasExactSynonym "CILD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011718 oboInOwl:hasExactSynonym "DNAAF3 primary ciliary dyskinesia" @@ -133037,7 +134277,9 @@ MONDO:0010141 oboInOwl:hasExactSynonym "tiglic acidemia" MONDO:0014751 oboInOwl:hasExactSynonym "palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome" MONDO:0004543 oboInOwl:hasExactSynonym "testicular yolk Sac tumor, enteric pattern" MONDO:0020358 oboInOwl:hasExactSynonym "coloboma of optic papilla" +MONDO:0010469 oboInOwl:hasExactSynonym "autism, susceptibility to, X-linked 6, X-linked recessive" MONDO:0010469 oboInOwl:hasExactSynonym "epsilon-trimethyllysine hydroxylase deficiency" +MONDO:0009231 oboInOwl:hasExactSynonym "acromesomelic dysplasia 2B" MONDO:0009231 oboInOwl:hasExactSynonym "fibular hypoplasia and complex brachydactyly" MONDO:0009231 oboInOwl:hasExactSynonym "Du Pan syndrome" MONDO:0003346 oboInOwl:hasExactSynonym "central nervous system vasculitis" @@ -133112,6 +134354,7 @@ MONDO:0014967 oboInOwl:hasExactSynonym "HTX8" http://purl.obolibrary.org/obo/mon MONDO:0014967 oboInOwl:hasExactSynonym "heterotaxy, visceral, 8, autosomal; HTX8" MONDO:0014967 oboInOwl:hasExactSynonym "heterotaxy, visceral, 8, autosomal" MONDO:0014967 oboInOwl:hasExactSynonym "visceral heterotaxy caused by mutation in PKD1L1" +MONDO:0008675 oboInOwl:hasExactSynonym "arthrogryposis, distal, type 2A (Freeman-Sheldon)" MONDO:0008675 oboInOwl:hasExactSynonym "Craniocarpotarsal dystrophy" MONDO:0008675 oboInOwl:hasExactSynonym "distal arthrogryposis type 2A" MONDO:0008675 oboInOwl:hasExactSynonym "windmill-vane-hand syndrome" @@ -133138,6 +134381,19 @@ MONDO:0014343 oboInOwl:hasExactSynonym "XYLT1 Desbuquois dysplasia" MONDO:0014343 oboInOwl:hasExactSynonym "Baratela-Scott syndrome" ECTO:9000376 oboInOwl:hasExactSynonym "exposure to formic acid" GO:1901360 oboInOwl:hasExactSynonym "organic cyclic compound metabolism" +MONDO:0004951 oboInOwl:hasExactSynonym "AIDS, rapid progression to" +MONDO:0004951 oboInOwl:hasExactSynonym "HIV-1 viremia, susceptibility to" +MONDO:0004951 oboInOwl:hasExactSynonym "HIV type 1, susceptibility to" +MONDO:0004951 oboInOwl:hasExactSynonym "rapid progression to AIDS from HIV1 infection" +MONDO:0004951 oboInOwl:hasExactSynonym "AIDS, resistance to" +MONDO:0004951 oboInOwl:hasExactSynonym "HIV1, resistance to" +MONDO:0004951 oboInOwl:hasExactSynonym "HIV/AIDS, susceptibility to" +MONDO:0004951 oboInOwl:hasExactSynonym "AIDS, delayed/rapid progression to" +MONDO:0004951 oboInOwl:hasExactSynonym "HIV infection, resistance to" +MONDO:0004951 oboInOwl:hasExactSynonym "HIV1 infection, resistance to" +MONDO:0004951 oboInOwl:hasExactSynonym "AIDS, slow progression to" +MONDO:0004951 oboInOwl:hasExactSynonym "HIV-1 disease, rapid progression of" +MONDO:0004951 oboInOwl:hasExactSynonym "HIV-1 disease, delayed progression of" CHEBI:17245 oboInOwl:hasExactSynonym "carbon monooxide" CHEBI:17245 oboInOwl:hasExactSynonym "Carbon monoxide" CHEBI:17245 oboInOwl:hasExactSynonym "CARBON MONOXIDE" @@ -133158,6 +134414,7 @@ MONDO:0001989 oboInOwl:hasExactSynonym "atrophy of tongue papillae" MONDO:0001989 oboInOwl:hasExactSynonym "glossitis, Hunter's" MONDO:0033361 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 52" MONDO:0033361 oboInOwl:hasExactSynonym "DEE52" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0033361 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 52" MONDO:0033361 oboInOwl:hasExactSynonym "EIEE52" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012708 oboInOwl:hasExactSynonym "PLSA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0030887 oboInOwl:hasExactSynonym "upregulation of myeloid dendritic cell activation" @@ -133211,7 +134468,9 @@ MONDO:0014530 oboInOwl:hasExactSynonym "SCAR18" http://purl.obolibrary.org/obo/m MONDO:0014530 oboInOwl:hasExactSynonym "GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome" MONDO:0014530 oboInOwl:hasExactSynonym "autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency" MONDO:0009714 oboInOwl:hasExactSynonym "congenital myosclerosis, LC6wenthal type" +MONDO:0009714 oboInOwl:hasExactSynonym "myosclerosis, congenital" MONDO:0009714 oboInOwl:hasExactSynonym "congenital myosclerosis, Löwenthal type" +MONDO:0010926 oboInOwl:hasExactSynonym "hpocalciuric hypercalcemia, type III" MONDO:0010926 oboInOwl:hasExactSynonym "hypocalciuric hypercalcemia type III" MONDO:0010926 oboInOwl:hasExactSynonym "familial hypocalciuric hypercalcemia type 3" MONDO:0010926 oboInOwl:hasExactSynonym "AP2S1 familial hypocalciuric hypercalcemia" @@ -133299,6 +134558,7 @@ HP:0011830 oboInOwl:hasExactSynonym "Abnormality of oral mucosa" HP:0011830 oboInOwl:hasExactSynonym "Abnormality of mucosa of mouth" MONDO:0007257 oboInOwl:hasExactSynonym "candidiasis, familial, 1" MONDO:0007257 oboInOwl:hasExactSynonym "CANDF1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007257 oboInOwl:hasExactSynonym "candidiasis, familial, 1, autosomal dominant" MONDO:0014146 oboInOwl:hasExactSynonym "hypocalcemia, autosomal dominant type 2" MONDO:0014146 oboInOwl:hasExactSynonym "HYPOC2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014146 oboInOwl:hasExactSynonym "autosomal dominant hypocalcemia type 2" @@ -133314,6 +134574,7 @@ MONDO:0003901 oboInOwl:hasExactSynonym "angioblastoma of cerebellum" MONDO:0003901 oboInOwl:hasExactSynonym "cerebellar capillary hemangioblastoma" MONDO:0003901 oboInOwl:hasExactSynonym "cerebellum hemangioblastoma" MONDO:0003901 oboInOwl:hasExactSynonym "hemangioblastoma of the cerebellum" +MONDO:0044634 oboInOwl:hasExactSynonym "short stature, hearing loss, retinitis pigmentosa, and distinctive facies" MONDO:0044634 oboInOwl:hasExactSynonym "retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome" MONDO:0002979 oboInOwl:hasExactSynonym "papillary squamous carcinoma" MONDO:0002979 oboInOwl:hasExactSynonym "papillary squamous cell carcinoma" @@ -133339,6 +134600,7 @@ NCIT:C25193 oboInOwl:hasExactSynonym "Employee Job" NCIT:C25193 oboInOwl:hasExactSynonym "Job" NCIT:C25193 oboInOwl:hasExactSynonym "OCCUPATION" MONDO:0014461 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism caused by mutation in FEZF1" +MONDO:0014461 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 22, with or without anosmia" MONDO:0014461 oboInOwl:hasExactSynonym "FEZF1 hypogonadotropic hypogonadism" MONDO:0014461 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 22 with or without anosmia" MONDO:0007328 oboInOwl:hasExactSynonym "choroidal osteoma, bilateral" @@ -133359,11 +134621,11 @@ MONDO:0010529 oboInOwl:hasExactSynonym "X-linked ataxia-deafness syndrome" MONDO:0010705 oboInOwl:hasExactSynonym "ouabain resistance" MONDO:0000798 oboInOwl:hasExactSynonym "allergy of mollusc food product" MONDO:0000798 oboInOwl:hasExactSynonym "mollusc food product allergic disease" -MONDO:0009903 oboInOwl:hasExactSynonym "postaxial acrofacial dysostosis" MONDO:0009903 oboInOwl:hasExactSynonym "postaxial acrodysostosis" -MONDO:0009903 oboInOwl:hasExactSynonym "acrofacial dysostosis, Genee-Wiedmann type" -MONDO:0009903 oboInOwl:hasExactSynonym "POADS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009903 oboInOwl:hasExactSynonym "Mandibulfacial dysostosis with postaxial limb anomalies" +MONDO:0009903 oboInOwl:hasExactSynonym "POADS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009903 oboInOwl:hasExactSynonym "postaxial acrofacial dysostosis" +MONDO:0009903 oboInOwl:hasExactSynonym "acrofacial dysostosis, Genee-Wiedmann type" MONDO:0009903 oboInOwl:hasExactSynonym "Miller syndrome" MONDO:0016444 oboInOwl:hasExactSynonym "primary macular atrophy" MONDO:0013566 oboInOwl:hasExactSynonym "Fanconi anemia complementation group type L" @@ -133597,8 +134859,8 @@ MONDO:0004535 oboInOwl:hasExactSynonym "childhood choriocarcinoma of ovary" MONDO:0004535 oboInOwl:hasExactSynonym "pediatric ovarian choriocarcinoma" MONDO:0004535 oboInOwl:hasExactSynonym "pediatric choriocarcinoma of ovary" MONDO:0002101 oboInOwl:hasExactSynonym "neoplasm of facial nerve" -MONDO:0002101 oboInOwl:hasExactSynonym "tumor of seventh cranial nerve" MONDO:0002101 oboInOwl:hasExactSynonym "tumor of the seventh cranial nerve" +MONDO:0002101 oboInOwl:hasExactSynonym "tumor of seventh cranial nerve" MONDO:0002101 oboInOwl:hasExactSynonym "seventh cranial nerve neoplasm" MONDO:0002101 oboInOwl:hasExactSynonym "neoplasm of seventh cranial nerve" MONDO:0002101 oboInOwl:hasExactSynonym "tumor of Facial nerve" @@ -133620,6 +134882,7 @@ MONDO:0002101 oboInOwl:hasExactSynonym "VIIth cranial nerve neoplasms" MONDO:0008004 oboInOwl:hasExactSynonym "hereditary mitral valve prolapse (disease)" MONDO:0017781 oboInOwl:hasExactSynonym "Del(12)(p12.1)" MONDO:0017781 oboInOwl:hasExactSynonym "monosomy 12p12.1" +MONDO:0026733 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type, X-linked recessive" MONDO:0005672 oboInOwl:hasExactSynonym "Blastomyces dermatitidis disease or disorder" MONDO:0005672 oboInOwl:hasExactSynonym "Blastomyces dermatitidis caused disease or disorder" MONDO:0005672 oboInOwl:hasExactSynonym "infection by Blastomyces dermatitidis" @@ -133688,6 +134951,7 @@ NCBITaxon:11676 oboInOwl:hasExactSynonym "human immunodeficiency virus type 1 HI NCBITaxon:11676 oboInOwl:hasExactSynonym "human immunodeficiency virus type I HIV-1" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:11676 oboInOwl:hasExactSynonym "human immunodeficiency virus 1 HIV-1" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name MONDO:0013272 oboInOwl:hasExactSynonym "Del(14)(q11.2)" +MONDO:0013272 oboInOwl:hasExactSynonym "chromosome 14q11-q22 deletion syndrome, isolated cases" MONDO:0013272 oboInOwl:hasExactSynonym "monosomy 14q11.2" MONDO:0013272 oboInOwl:hasExactSynonym "14q11.2 microdeletion syndrome" MONDO:0013272 oboInOwl:hasExactSynonym "chromosome 14q11-q22 deletion syndrome" @@ -133724,8 +134988,10 @@ MONDO:0013389 oboInOwl:hasExactSynonym "developmental and epileptic encephalopat MONDO:0013389 oboInOwl:hasExactSynonym "DEE12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013389 oboInOwl:hasExactSynonym "PLCB1 early infantile epileptic encephalopathy" MONDO:0013389 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 12" +MONDO:0013389 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 12" MONDO:0013389 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 12" MONDO:0009780 oboInOwl:hasExactSynonym "Czeizel syndrome" +MONDO:0014335 oboInOwl:hasExactSynonym "microcephaly, progressive, seizures, and cerebral and cerebellar atrophy" MONDO:0014335 oboInOwl:hasExactSynonym "diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome" ENVO:01001690 oboInOwl:hasExactSynonym "liquid mass"@en MONDO:0000742 oboInOwl:hasExactSynonym "PGL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -133797,6 +135063,7 @@ MONDO:0015610 oboInOwl:hasExactSynonym "acquired aplastic anemia" MONDO:0007266 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, type 2" MONDO:0007266 oboInOwl:hasExactSynonym "cardiomyopathy familial hypertrophic 2" MONDO:0007266 oboInOwl:hasExactSynonym "TNNT2 hypertrophic cardiomyopathy" +MONDO:0007266 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 2" MONDO:0007266 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 2" MONDO:0007266 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy 2" MONDO:0007266 oboInOwl:hasExactSynonym "CMH2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -133845,6 +135112,7 @@ MONDO:0004054 oboInOwl:hasExactSynonym "acute lacrimal canaliculitis" MONDO:0004054 oboInOwl:hasExactSynonym "acute canaliculitis, lacrimal" MONDO:0018363 oboInOwl:hasExactSynonym "FFDD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011647 oboInOwl:hasExactSynonym "Alzheimer's disease type 7" +MONDO:0011647 oboInOwl:hasExactSynonym "Alzheimer disease-7" MONDO:0011647 oboInOwl:hasExactSynonym "Alzheimer disease, familial 7" MONDO:0011647 oboInOwl:hasExactSynonym "Alzheimer disease type 7" MONDO:0011647 oboInOwl:hasExactSynonym "Alzheimer's disease 7" @@ -133854,12 +135122,14 @@ MONDO:0006254 oboInOwl:hasExactSynonym "intestinal-type adenocarcinoma" MONDO:0006254 oboInOwl:hasExactSynonym "intestinal type carcinoma" MONDO:0009201 oboInOwl:hasExactSynonym "facial abnormalities, kyphoscoliosis, and mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0009201 oboInOwl:hasExactSynonym "facial abnormalities, kyphoscoliosis, and intellectual disability" -MONDO:0010478 oboInOwl:hasExactSynonym "CDG syndrome type IIm" +MONDO:0010478 oboInOwl:hasExactSynonym "congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant" MONDO:0010478 oboInOwl:hasExactSynonym "CDG2M" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010478 oboInOwl:hasExactSynonym "CDG syndrome type IIm" MONDO:0010478 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type IIm" MONDO:0010478 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type 2m" MONDO:0010478 oboInOwl:hasExactSynonym "CDG-IIm" MONDO:0010478 oboInOwl:hasExactSynonym "SLC35A2-CDG" +MONDO:0100342 oboInOwl:hasExactSynonym "malignant neuroglial neoplasm" MONDO:0100342 oboInOwl:hasExactSynonym "glioma, malignant" MONDO:0100342 oboInOwl:hasExactSynonym "malignant glial tumor" MONDO:0100342 oboInOwl:hasExactSynonym "malignant glioma" @@ -133868,7 +135138,6 @@ MONDO:0100342 oboInOwl:hasExactSynonym "glial cell tumor" MONDO:0100342 oboInOwl:hasExactSynonym "malignant glial neoplasm" MONDO:0100342 oboInOwl:hasExactSynonym "high grade glioma" MONDO:0100342 oboInOwl:hasExactSynonym "malignant neuroglial tumor" -MONDO:0100342 oboInOwl:hasExactSynonym "malignant neuroglial neoplasm" MONDO:0001545 oboInOwl:hasExactSynonym "obsolete von willebrand's disease" MONDO:0020543 oboInOwl:hasExactSynonym "theca (steroid-producing) cell cancer, not further specified" MONDO:0043224 oboInOwl:hasExactSynonym "multi infarct dementia" @@ -133892,8 +135161,8 @@ MONDO:0010888 oboInOwl:hasExactSynonym "endometriosis (disease) of myometrium" MONDO:0010888 oboInOwl:hasExactSynonym "endometriosis interna" MONDO:0010888 oboInOwl:hasExactSynonym "myometrium endometriosis (disease)" MONDO:0010888 oboInOwl:hasExactSynonym "endometriosis, myometrium" -MONDO:0010888 oboInOwl:hasExactSynonym "uterine corpus adenomyosis" MONDO:0010888 oboInOwl:hasExactSynonym "uterine adenomyosis" +MONDO:0010888 oboInOwl:hasExactSynonym "uterine corpus adenomyosis" MONDO:0033203 oboInOwl:hasExactSynonym "nephrotic syndrome 14" MONDO:0033203 oboInOwl:hasExactSynonym "nephrotic syndrome, type 14" MONDO:0033203 oboInOwl:hasExactSynonym "primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency" @@ -134006,6 +135275,7 @@ MONDO:0002240 oboInOwl:hasExactSynonym "acute perichondritis of auricle" MONDO:0024512 oboInOwl:hasExactSynonym "SPDA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011397 oboInOwl:hasExactSynonym "ADCA-DN syndrome" MONDO:0011397 oboInOwl:hasExactSynonym "autosomal dominant cerebellar ataxia, deafness and narcolepsy" +MONDO:0010027 oboInOwl:hasExactSynonym "sialic acid storage disorder, infantile" MONDO:0010027 oboInOwl:hasExactSynonym "ISSD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013597 oboInOwl:hasExactSynonym "thromboxane synthase deficiency" MONDO:0013597 oboInOwl:hasExactSynonym "TBXAS1 inherited bleeding disorder, platelet-type" @@ -134034,6 +135304,7 @@ MONDO:0021343 oboInOwl:hasExactSynonym "floor of mouth carcinoma" MONDO:0021343 oboInOwl:hasExactSynonym "mouth floor cancer" MONDO:0032812 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78" MONDO:0032812 oboInOwl:hasExactSynonym "DEE78" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032812 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 78" MONDO:0032812 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 78" MONDO:0032812 oboInOwl:hasExactSynonym "EIEE78" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0001525 oboInOwl:hasExactSynonym "blood vessel formation from pre-existing blood vessels" @@ -134068,12 +135339,14 @@ MONDO:0021530 oboInOwl:hasExactSynonym "benign tumor of subglottis" MONDO:0021530 oboInOwl:hasExactSynonym "benign subglottis tumor" MONDO:0021530 oboInOwl:hasExactSynonym "benign neoplasm of the subglottis" MONDO:0021530 oboInOwl:hasExactSynonym "benign subglottis neoplasm" -MONDO:0011719 oboInOwl:hasExactSynonym "gant" +MONDO:0011719 oboInOwl:hasExactSynonym "gastrointestinal stromal tumor" +MONDO:0011719 oboInOwl:hasExactSynonym "gastrointestinal stromal tumor, familial, isolated cases" MONDO:0011719 oboInOwl:hasExactSynonym "gastrointestinal stromal sarcoma" +MONDO:0011719 oboInOwl:hasExactSynonym "gant" +MONDO:0011719 oboInOwl:hasExactSynonym "stromal tumor of gastrointestinal tract" +MONDO:0011719 oboInOwl:hasExactSynonym "gastrointestinal stromal tumor, isolated cases" MONDO:0011719 oboInOwl:hasExactSynonym "gist" MONDO:0011719 oboInOwl:hasExactSynonym "gastrointestinal stromal neoplasm" -MONDO:0011719 oboInOwl:hasExactSynonym "gastrointestinal stromal tumor" -MONDO:0011719 oboInOwl:hasExactSynonym "stromal tumor of gastrointestinal tract" MONDO:0011719 oboInOwl:hasExactSynonym "gastrointestinal stromal tumor (gist)" MONDO:0005087 oboInOwl:hasExactSynonym "respiratory system disease" MONDO:0005087 oboInOwl:hasExactSynonym "respiratory disease" @@ -134119,6 +135392,7 @@ MONDO:0014891 oboInOwl:hasExactSynonym "familial juvenile hyperuricemic nephropa MONDO:0014891 oboInOwl:hasExactSynonym "ADTKD-SEC61A1" MONDO:0014891 oboInOwl:hasExactSynonym "hyperuricemic nephropathy, familial juvenile, type 4" MONDO:0014891 oboInOwl:hasExactSynonym "SEC61A1 familial juvenile hyperuricemic nephropathy" +MONDO:0014891 oboInOwl:hasExactSynonym "tubulointerstitial kidney disease, autosomal dominant, 5" MONDO:0009045 oboInOwl:hasExactSynonym "crome syndrome" MONDO:0010830 oboInOwl:hasExactSynonym "neuronal ceroid lipofuscinosis caused by mutation in CLN8" MONDO:0010830 oboInOwl:hasExactSynonym "CLN8 neuronal ceroid lipofuscinosis" @@ -134140,6 +135414,7 @@ MONDO:0012321 oboInOwl:hasExactSynonym "AD10" http://purl.obolibrary.org/obo/mon MONDO:0012321 oboInOwl:hasExactSynonym "Alzheimer's disease type 10" MONDO:0012321 oboInOwl:hasExactSynonym "Alzheimer disease 10" MONDO:0012321 oboInOwl:hasExactSynonym "Alzheimer disease familial 10" +MONDO:0012321 oboInOwl:hasExactSynonym "Alzheimer disease-10" MONDO:0012321 oboInOwl:hasExactSynonym "Alzheimer's disease 10" MONDO:0016867 oboInOwl:hasExactSynonym "partial monosomy of chromosome 2" MONDO:0016867 oboInOwl:hasExactSynonym "partial deletion of chromosome type 2" @@ -134151,12 +135426,14 @@ MONDO:0003737 oboInOwl:hasExactSynonym "testicular Leydig cell tumor, malignant" MONDO:0011583 oboInOwl:hasExactSynonym "amyloidosis, Cerebroarterial, APP-related" MONDO:0011583 oboInOwl:hasExactSynonym "HCHWAD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011583 oboInOwl:hasExactSynonym "cerebral amyloid angiopathy, APP-related" +MONDO:0011583 oboInOwl:hasExactSynonym "cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants" MONDO:0001576 oboInOwl:hasExactSynonym "telangiectasia" MONDO:0008035 oboInOwl:hasExactSynonym "muscular hypoplasia, congenital universal, of Krabbe" MONDO:0007479 oboInOwl:hasExactSynonym "dwarfism, Levi type" GO:0002088 oboInOwl:hasExactSynonym "lens development in camera-style eye" GO:0002088 oboInOwl:hasExactSynonym "lens development" MONDO:0006723 oboInOwl:hasExactSynonym "denture sore mouth" +MONDO:0012709 oboInOwl:hasExactSynonym "microphthalmia with coloboma 5" MONDO:0012709 oboInOwl:hasExactSynonym "SHH microphthalmia, isolated, with coloboma" MONDO:0012709 oboInOwl:hasExactSynonym "Shh microphthalmia, isolated, with coloboma" MONDO:0012709 oboInOwl:hasExactSynonym "microphthalmia, isolated, with coloboma type 5" @@ -134165,6 +135442,7 @@ MONDO:0012709 oboInOwl:hasExactSynonym "microphthalmia, isolated, with coloboma MONDO:0012709 oboInOwl:hasExactSynonym "microphthalmia, isolated, with coloboma 5" MONDO:0033362 oboInOwl:hasExactSynonym "DEE53" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033362 oboInOwl:hasExactSynonym "EIEE53" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0033362 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 53" MONDO:0033362 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 53" CHEBI:39022 oboInOwl:hasExactSynonym "inclusion compound" MONDO:0019469 oboInOwl:hasExactSynonym "large cell granular lymphogenous leukemia" @@ -134199,6 +135477,7 @@ MONDO:0005711 oboInOwl:hasExactSynonym "congenital diaphragmatic hernia" MONDO:0005711 oboInOwl:hasExactSynonym "diaphragmatic hernia" MONDO:0005711 oboInOwl:hasExactSynonym "CDH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009453 oboInOwl:hasExactSynonym "immune deficiency disease" +MONDO:0020734 oboInOwl:hasExactSynonym "AMP deaminase deficiency, erythrocytic" MONDO:0020734 oboInOwl:hasExactSynonym "erythrocyte AMP deaminase deficiency" CL:0000300 oboInOwl:hasExactSynonym "haploid nucleated cell" GO:0030217 oboInOwl:hasExactSynonym "T-lymphocyte differentiation" @@ -134207,6 +135486,7 @@ GO:0030217 oboInOwl:hasExactSynonym "T lymphocyte differentiation" MONDO:0010550 oboInOwl:hasExactSynonym "Charcot Marie Tooth disease X-linked recessive 2" MONDO:0010550 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease X-linked recessive type 2" MONDO:0010550 oboInOwl:hasExactSynonym "X-linked Charcot-Marie-Tooth disease type 2" +MONDO:0010550 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive" MONDO:0010550 oboInOwl:hasExactSynonym "CMTX2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010550 oboInOwl:hasExactSynonym "CMTX 2" MONDO:0010550 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy X-linked recessive 2" @@ -134259,6 +135539,7 @@ MONDO:0001051 oboInOwl:hasExactSynonym "tank ear" MONDO:0001051 oboInOwl:hasExactSynonym "acute swimmer's ear" MONDO:0009715 oboInOwl:hasExactSynonym "autosomal recessive myotonia congenita" MONDO:0009715 oboInOwl:hasExactSynonym "myotonia congenita, autosomal recessive" +MONDO:0009715 oboInOwl:hasExactSynonym "myotonia congenita, recessive" MONDO:0013311 oboInOwl:hasExactSynonym "ectodermal dysplasia-syndactyly syndrome type 1" MONDO:0013311 oboInOwl:hasExactSynonym "EDSS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013311 oboInOwl:hasExactSynonym "EDSS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -134332,11 +135613,11 @@ MONDO:0015160 oboInOwl:hasExactSynonym "MCA/variable MR" MONDO:0015160 oboInOwl:hasExactSynonym "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome" MONDO:0000799 oboInOwl:hasExactSynonym "crustacean food product allergic disease" MONDO:0000799 oboInOwl:hasExactSynonym "allergy of crustacean food product" -MONDO:0056822 oboInOwl:hasExactSynonym "amyotonia congenita" MONDO:0005946 oboInOwl:hasExactSynonym "Rhinosporidium seeberi infectious disease" MONDO:0005946 oboInOwl:hasExactSynonym "infection by Rhinosporidium seeberi" MONDO:0005946 oboInOwl:hasExactSynonym "Rhinosporidium seeberi caused disease or disorder" MONDO:0005946 oboInOwl:hasExactSynonym "Rhinosporidium seeberi disease or disorder" +MONDO:0056822 oboInOwl:hasExactSynonym "amyotonia congenita" ECTO:9000156 oboInOwl:hasExactSynonym "exposure to water" HP:0000153 oboInOwl:hasExactSynonym "Abnormal mouth" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0000153 oboInOwl:hasExactSynonym "Abnormality of the mouth" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -134386,6 +135667,7 @@ MONDO:0015004 oboInOwl:hasExactSynonym "dystonia 28, childhood-onset" MONDO:0015004 oboInOwl:hasExactSynonym "dystonia 28, childhood-onset; DYT28" MONDO:0015004 oboInOwl:hasExactSynonym "KMT2B dystonic disorder" MONDO:0010400 oboInOwl:hasExactSynonym "X-linked scapuloperoneal syndrome" +MONDO:0010400 oboInOwl:hasExactSynonym "scapuloperoneal myopathy, X-linked dominant, X-linked dominant" MONDO:0010400 oboInOwl:hasExactSynonym "X-linked SPMD" MONDO:0016562 oboInOwl:hasExactSynonym "PSP-pure akinesia with gait freezing" MONDO:0016562 oboInOwl:hasExactSynonym "PSP-PAGF" @@ -134422,7 +135704,11 @@ MONDO:0013567 oboInOwl:hasExactSynonym "ASD3" http://purl.obolibrary.org/obo/mon MONDO:0013567 oboInOwl:hasExactSynonym "atrial heart septal defect caused by mutation in MYH6" MONDO:0012352 oboInOwl:hasExactSynonym "vasculitis, lymphocytic, cutaneous small vessel" MONDO:0007991 oboInOwl:hasExactSynonym "Kawashima-Tsuji syndrome" +MONDO:0008559 oboInOwl:hasExactSynonym "thromboembolism, susceptibility to" MONDO:0008559 oboInOwl:hasExactSynonym "thrombophilia due to thrombin defect" +MONDO:0008559 oboInOwl:hasExactSynonym "thrombophilia 1 due to thrombin defect" +MONDO:0008559 oboInOwl:hasExactSynonym "venous thrombosis, protection against" +MONDO:0008559 oboInOwl:hasExactSynonym "venous thromboembolism, susceptibility to" MONDO:0018624 oboInOwl:hasExactSynonym "spontaneous cerebrospinal fluid leak" GO:0042133 oboInOwl:hasExactSynonym "neurotransmitter metabolism" MONDO:0009258 oboInOwl:hasExactSynonym "GALT deficiency" @@ -134467,6 +135753,7 @@ MONDO:0007182 oboInOwl:hasExactSynonym "spinocerebellar ataxia 3" MONDO:0007182 oboInOwl:hasExactSynonym "Azorean disease of the nervous system" MONDO:0007182 oboInOwl:hasExactSynonym "spinocerebellar ataxia type 3" MONDO:0007182 oboInOwl:hasExactSynonym "autosomal dominant striatonigral degeneration" +MONDO:0010637 oboInOwl:hasExactSynonym "keratosis follicularis spinulosa decalvans, X-linked, X-linked recessive" MONDO:0010637 oboInOwl:hasExactSynonym "keratosis follicularis spinulosa decalvans, X-linked" HP:0000940 oboInOwl:hasExactSynonym "Abnormality of the diaphyses" HP:0000940 oboInOwl:hasExactSynonym "Anomaly of the limb diaphyses" @@ -134521,6 +135808,7 @@ MONDO:0006021 oboInOwl:hasExactSynonym "variant angina" MONDO:0006021 oboInOwl:hasExactSynonym "angina inversa" PATO:0001689 oboInOwl:hasExactSynonym "low elevation" ECTO:0400000 oboInOwl:hasExactSynonym "layer exposure" +MONDO:0014147 oboInOwl:hasExactSynonym "ceroid lipofuscinosis, neuronal, 13 (Kufs type)" MONDO:0014147 oboInOwl:hasExactSynonym "neuronal ceroid lipofuscinosis caused by mutation in CTSF" MONDO:0014147 oboInOwl:hasExactSynonym "CLN13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014147 oboInOwl:hasExactSynonym "CTSF neuronal ceroid lipofuscinosis" @@ -134611,12 +135899,12 @@ MONDO:0000491 oboInOwl:hasExactSynonym "ischemic disease of limb" MONDO:0000491 oboInOwl:hasExactSynonym "limb ischemia" MONDO:0006394 oboInOwl:hasExactSynonym "rectal tubular adenoma" MONDO:0017027 oboInOwl:hasExactSynonym "primary ILD specific to adulthood" +MONDO:0019916 oboInOwl:hasExactSynonym "maternal uniparental disomy of chromosome type 16" +MONDO:0019916 oboInOwl:hasExactSynonym "UPD(16)mat" MONDO:0018585 oboInOwl:hasExactSynonym "childhood arterial ischemic stroke" MONDO:0018585 oboInOwl:hasExactSynonym "childhood AIS" MONDO:0018585 oboInOwl:hasExactSynonym "pediatric AIS" MONDO:0014149 oboInOwl:hasExactSynonym "lethal congenital contracture syndrome type 5" -MONDO:0019916 oboInOwl:hasExactSynonym "maternal uniparental disomy of chromosome type 16" -MONDO:0019916 oboInOwl:hasExactSynonym "UPD(16)mat" FOODON:03412112 oboInOwl:hasExactSynonym "mollusk"@en FOODON:03412112 oboInOwl:hasExactSynonym "Mollusca" MONDO:0010173 oboInOwl:hasExactSynonym "congenital absence of uterus and vagina" @@ -134643,6 +135931,7 @@ MONDO:0009781 oboInOwl:hasExactSynonym "Onychotrichodysplasia and neutropenia" MONDO:0009781 oboInOwl:hasExactSynonym "onycho-tricho-dysplasia-neutropenia syndrome" MONDO:0014336 oboInOwl:hasExactSynonym "autosomal dominant mental retardation 23" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014336 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant type 23" +MONDO:0014336 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal dominant 23" MONDO:0014336 oboInOwl:hasExactSynonym "MRD23" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014336 oboInOwl:hasExactSynonym "autosomal dominant intellectual disability 23" MONDO:0014336 oboInOwl:hasExactSynonym "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" @@ -134654,11 +135943,13 @@ MONDO:0013273 oboInOwl:hasExactSynonym "trisomy 16pter" MONDO:0013273 oboInOwl:hasExactSynonym "distal trisomy 16p" MONDO:0013273 oboInOwl:hasExactSynonym "telomeric duplication 16p" MONDO:0013273 oboInOwl:hasExactSynonym "distal duplication 16p" +MONDO:0013273 oboInOwl:hasExactSynonym "chromosome 16p13.3 duplication syndrome, isolated cases" MONDO:0010887 oboInOwl:hasExactSynonym "hairy throat syndrome" MONDO:0010887 oboInOwl:hasExactSynonym "Tsukahara-Kajii syndrome" MONDO:0011961 oboInOwl:hasExactSynonym "hereditary sensory and autonomic neuropathy type IB" MONDO:0011961 oboInOwl:hasExactSynonym "HSAN with cough and gastroesophageal reflux" MONDO:0011961 oboInOwl:hasExactSynonym "hereditary sensory neuropathy type IB" +MONDO:0011961 oboInOwl:hasExactSynonym "neuropathy, hereditary sensory, type IB" MONDO:0011961 oboInOwl:hasExactSynonym "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux" MONDO:0011961 oboInOwl:hasExactSynonym "HSAN1B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:1904731 oboInOwl:hasExactSynonym "up-regulation of intestinal lipid absorption" @@ -134692,8 +135983,8 @@ GO:1901402 oboInOwl:hasExactSynonym "inhibition of tetrapyrrole metabolism" GO:1901402 oboInOwl:hasExactSynonym "downregulation of tetrapyrrole metabolic process" GO:1901402 oboInOwl:hasExactSynonym "down regulation of tetrapyrrole metabolism" GO:1901402 oboInOwl:hasExactSynonym "down-regulation of tetrapyrrole metabolic process" -GO:1901402 oboInOwl:hasExactSynonym "negative regulation of tetrapyrrole metabolism" GO:1901402 oboInOwl:hasExactSynonym "down-regulation of tetrapyrrole metabolism" +GO:1901402 oboInOwl:hasExactSynonym "negative regulation of tetrapyrrole metabolism" GO:1901402 oboInOwl:hasExactSynonym "downregulation of tetrapyrrole metabolism" GO:1901402 oboInOwl:hasExactSynonym "down regulation of tetrapyrrole metabolic process" CHEBI:33822 oboInOwl:hasExactSynonym "hydroxy compounds" @@ -134704,13 +135995,13 @@ MONDO:0019508 oboInOwl:hasExactSynonym "VWS" http://purl.obolibrary.org/obo/mond MONDO:0019508 oboInOwl:hasExactSynonym "cleft lip/palate with mucous cysts of lower lip" CL:0002139 oboInOwl:hasExactSynonym "vascular endothelial cell" MONDO:0001912 oboInOwl:hasExactSynonym "frontal sinusitis, acute" -GO:0030810 oboInOwl:hasExactSynonym "up-regulation of nucleotide biosynthetic process" GO:0030810 oboInOwl:hasExactSynonym "up regulation of nucleotide biosynthetic process" GO:0030810 oboInOwl:hasExactSynonym "upregulation of nucleotide biosynthetic process" GO:0030810 oboInOwl:hasExactSynonym "positive regulation of nucleotide synthesis" GO:0030810 oboInOwl:hasExactSynonym "positive regulation of nucleotide biosynthesis" GO:0030810 oboInOwl:hasExactSynonym "positive regulation of nucleotide anabolism" GO:0030810 oboInOwl:hasExactSynonym "positive regulation of nucleotide formation" +GO:0030810 oboInOwl:hasExactSynonym "up-regulation of nucleotide biosynthetic process" MONDO:0014722 oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome" MONDO:0014722 oboInOwl:hasExactSynonym "Roifman syndrome" MONDO:0004232 oboInOwl:hasExactSynonym "squamous cell breast carcinoma, large cell keratinizing variant" @@ -134746,11 +136037,15 @@ MONDO:0002297 oboInOwl:hasExactSynonym "neoplasm of skin appendage" MONDO:0002297 oboInOwl:hasExactSynonym "neoplasm of the skin appendage" MONDO:0002297 oboInOwl:hasExactSynonym "tumor of the skin appendage" MONDO:0002297 oboInOwl:hasExactSynonym "adnexal tumor of the skin" +MONDO:0010479 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant" MONDO:0010479 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy X-linked dominant 6" MONDO:0010479 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, X-linked dominant, type 6" MONDO:0010479 oboInOwl:hasExactSynonym "X-linked Charcot-Marie-Tooth disease type 6" MONDO:0010479 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease X-linked dominant type 6" MONDO:0010479 oboInOwl:hasExactSynonym "CMTX6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020544 oboInOwl:hasExactSynonym "Streptococcus caused toxic shock syndrome" +MONDO:0020544 oboInOwl:hasExactSynonym "Streptococcus toxic shock syndrome" +MONDO:0020544 oboInOwl:hasExactSynonym "streptococcal TSS" GO:0050868 oboInOwl:hasExactSynonym "down-regulation of T cell activation" GO:0050868 oboInOwl:hasExactSynonym "negative regulation of T lymphocyte activation" GO:0050868 oboInOwl:hasExactSynonym "negative regulation of T-cell activation" @@ -134759,9 +136054,6 @@ GO:0050868 oboInOwl:hasExactSynonym "negative regulation of T-lymphocyte activat GO:0050868 oboInOwl:hasExactSynonym "downregulation of T cell activation" MONDO:0002102 oboInOwl:hasExactSynonym "lip inflammation" MONDO:0002102 oboInOwl:hasExactSynonym "inflammation of lip" -MONDO:0020544 oboInOwl:hasExactSynonym "Streptococcus caused toxic shock syndrome" -MONDO:0020544 oboInOwl:hasExactSynonym "Streptococcus toxic shock syndrome" -MONDO:0020544 oboInOwl:hasExactSynonym "streptococcal TSS" MONDO:0008005 oboInOwl:hasExactSynonym "cardiospondylocarpofacial syndrome" MONDO:0008005 oboInOwl:hasExactSynonym "Forney syndrome" MONDO:0008005 oboInOwl:hasExactSynonym "mitral regurgitation-deafness-skeletal anomalies syndrome" @@ -134800,6 +136092,7 @@ MONDO:0007267 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, t MONDO:0007267 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy 3" MONDO:0007267 oboInOwl:hasExactSynonym "TPM1 hypertrophic cardiomyopathy" MONDO:0007267 oboInOwl:hasExactSynonym "CMH3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007267 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 3" MONDO:0007267 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 3" MONDO:0007267 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy caused by mutation in TPM1" MONDO:0018834 oboInOwl:hasExactSynonym "ADSSL1-related distal myopathy" @@ -134822,8 +136115,8 @@ MONDO:0003504 oboInOwl:hasExactSynonym "neuroendocrine neoplasm of anal canal" MONDO:0003504 oboInOwl:hasExactSynonym "neuroendocrine neoplasm of the anus" MONDO:0003504 oboInOwl:hasExactSynonym "anal canal NET" MONDO:0003504 oboInOwl:hasExactSynonym "anal neuroendocrine neoplasm" -MONDO:0003504 oboInOwl:hasExactSynonym "anal canal neuroendocrine tumor, well differentiated, low or intermediate grade" MONDO:0003504 oboInOwl:hasExactSynonym "neuroendocrine neoplasm of anus" +MONDO:0003504 oboInOwl:hasExactSynonym "anal canal neuroendocrine tumor, well differentiated, low or intermediate grade" MONDO:0003504 oboInOwl:hasExactSynonym "anus neuroendocrine neoplasm" MONDO:0011083 oboInOwl:hasExactSynonym "kersey syndrome" MONDO:0011740 oboInOwl:hasExactSynonym "gist-paraganglioma dyad" @@ -134837,6 +136130,7 @@ MONDO:0019561 oboInOwl:hasExactSynonym "lupus profundus" MONDO:0019561 oboInOwl:hasExactSynonym "lupus panniculitis" MONDO:0018188 oboInOwl:hasExactSynonym "familial intestinal polyposis" MONDO:0008299 oboInOwl:hasExactSynonym "posterior column ataxia" +GO:0016788 oboInOwl:hasExactSynonym "esterase activity" MONDO:0018364 oboInOwl:hasExactSynonym "malignant ovarian surface epithelial-stromal neoplasm" MONDO:0018364 oboInOwl:hasExactSynonym "ovarian epithelial cancer" MONDO:0018364 oboInOwl:hasExactSynonym "malignant ovarian epithelial tumor" @@ -134845,7 +136139,6 @@ MONDO:0018364 oboInOwl:hasExactSynonym "ovarian epithelial tumor, malignant" MONDO:0018364 oboInOwl:hasExactSynonym "epithelial cancer of ovary" MONDO:0018364 oboInOwl:hasExactSynonym "ovarian stromal cancer" MONDO:0018364 oboInOwl:hasExactSynonym "malignant ovarian surface epithelial-stromal tumor" -GO:0016788 oboInOwl:hasExactSynonym "esterase activity" MONDO:0001893 oboInOwl:hasExactSynonym "spinal cord melanoma" MONDO:0001893 oboInOwl:hasExactSynonym "melanoma of spinal cord" MONDO:0001893 oboInOwl:hasExactSynonym "spinal cord melanoma (disease)" @@ -134858,6 +136151,7 @@ MONDO:0009631 oboInOwl:hasExactSynonym "MCOP1" http://purl.obolibrary.org/obo/mo MONDO:0007488 oboInOwl:hasExactSynonym "Lewy body disease" MONDO:0007488 oboInOwl:hasExactSynonym "DLB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007488 oboInOwl:hasExactSynonym "Senile dementia of the Lewy body type" +MONDO:0007488 oboInOwl:hasExactSynonym "lewy body dementia, susceptibility to" MONDO:0007488 oboInOwl:hasExactSynonym "dementia with Lewy bodies" MONDO:0007488 oboInOwl:hasExactSynonym "Lewy body dementia" MONDO:0007488 oboInOwl:hasExactSynonym "cortical Lewy body disease" @@ -134919,12 +136213,14 @@ MONDO:0012157 oboInOwl:hasExactSynonym "FIM1" http://purl.obolibrary.org/obo/mon MONDO:0012157 oboInOwl:hasExactSynonym "CMS Id" GO:0002694 oboInOwl:hasExactSynonym "regulation of leucocyte activation" GO:0002694 oboInOwl:hasExactSynonym "regulation of immune cell activation" +MONDO:0032813 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 79" MONDO:0032813 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 79" MONDO:0032813 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79" MONDO:0032813 oboInOwl:hasExactSynonym "EIEE79" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032813 oboInOwl:hasExactSynonym "DEE79" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024652 oboInOwl:hasExactSynonym "embryonic cyst of fallopian tube" MONDO:0011469 oboInOwl:hasExactSynonym "CAMT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011469 oboInOwl:hasExactSynonym "thrombocytopenia, congenital amegakaryocytic" MONDO:0011469 oboInOwl:hasExactSynonym "congenital amegakaryocytic thrombocytopenic purpura" MONDO:0011469 oboInOwl:hasExactSynonym "congenital amegakaryocytic thrombocytopenia" MONDO:0003591 oboInOwl:hasExactSynonym "renal liposarcoma" @@ -134991,6 +136287,7 @@ MONDO:0100156 oboInOwl:hasExactSynonym "megaloblastic anemia, Finnish type" MONDO:0100156 oboInOwl:hasExactSynonym "enterocyte cobalamin malabsorption" MONDO:0100156 oboInOwl:hasExactSynonym "MGA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100156 oboInOwl:hasExactSynonym "MGA-1" +MONDO:0100156 oboInOwl:hasExactSynonym "Imerslund-Grasbeck syndrome 1" GO:0050905 oboInOwl:hasExactSynonym "neuromuscular physiological process" GO:0050905 oboInOwl:hasExactSynonym "neuromotor process" MONDO:0000587 oboInOwl:hasExactSynonym "autoimmune otorhinolaryngologic disease" @@ -135073,6 +136370,7 @@ HP:0001618 oboInOwl:hasExactSynonym "Inability to produce voice sounds" http://p HP:0001618 oboInOwl:hasExactSynonym "Voice change" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0014892 oboInOwl:hasExactSynonym "autosomal dominant intellectual disability 44" MONDO:0014892 oboInOwl:hasExactSynonym "MEBAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014892 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal dominant 44, with microcephaly" MONDO:0014892 oboInOwl:hasExactSynonym "MRD44" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014892 oboInOwl:hasExactSynonym "mercer-Ba syndrome" MONDO:0014892 oboInOwl:hasExactSynonym "autosomal dominant mental retardation 44" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -135123,6 +136421,7 @@ MONDO:0003569 oboInOwl:hasExactSynonym "cranial neuron projection bundle disease MONDO:0003569 oboInOwl:hasExactSynonym "cranial nerve disorder" MONDO:0003569 oboInOwl:hasExactSynonym "cranial neuron projection bundle disease" MONDO:0003569 oboInOwl:hasExactSynonym "disorder of cranial neuron projection bundle" +MONDO:0020735 oboInOwl:hasExactSynonym "ACTH-independent macronodular adrenal hyperplasia, Somatic mutation" MONDO:0002241 oboInOwl:hasExactSynonym "FXIIID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:1904228 oboInOwl:hasExactSynonym "upregulation of glycogen synthase activity, transferring glucose-1-phosphate" GO:1904228 oboInOwl:hasExactSynonym "up regulation of glycogen synthase activity, transferring glucose-1-phosphate" @@ -135159,6 +136458,7 @@ MONDO:0013763 oboInOwl:hasExactSynonym "CEP41 Joubert syndrome" MONDO:0033363 oboInOwl:hasExactSynonym "EIEE54" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033363 oboInOwl:hasExactSynonym "DEE54" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033363 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 54" +MONDO:0033363 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 54" MONDO:0100274 oboInOwl:hasExactSynonym "AGPS deficiency" MONDO:0100274 oboInOwl:hasExactSynonym "alkylglycerone-phosphate synthase deficiency" MONDO:0024496 oboInOwl:hasExactSynonym "grade 2/3" @@ -135186,6 +136486,7 @@ MONDO:0010551 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease X-linked rec MONDO:0010551 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy, X-linked recessive, 3" MONDO:0010551 oboInOwl:hasExactSynonym "CMTX 3" MONDO:0010551 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy X-linked recessive 3" +MONDO:0010551 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessive" MONDO:0010551 oboInOwl:hasExactSynonym "CMT3X" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009716 oboInOwl:hasExactSynonym "myotonia-intellectual disability-skeletal anomalies syndrome" MONDO:0010928 oboInOwl:hasExactSynonym "dwarfism, familial, with muscle spasms" @@ -135209,6 +136510,7 @@ MONDO:0021284 oboInOwl:hasExactSynonym "ureter carcinoma in situ" MONDO:0021284 oboInOwl:hasExactSynonym "carcinoma in situ of the ureter" MONDO:0016350 oboInOwl:hasExactSynonym "Daentl-Townsend-Siegel syndrome" MONDO:0007601 oboInOwl:hasExactSynonym "familial Mediterranean fever, autosomal dominant" +MONDO:0007601 oboInOwl:hasExactSynonym "familial Mediterranean fever, AD" HP:0002099 oboInOwl:hasExactSynonym "Asthma" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0002099 oboInOwl:hasExactSynonym "Bronchial asthma" GO:0048872 oboInOwl:hasExactSynonym "homeostasis of cell number" @@ -135272,9 +136574,9 @@ CL:0000819 oboInOwl:hasExactSynonym "B1 B-lymphocyte" CL:0000819 oboInOwl:hasExactSynonym "B-1 B-cell" CL:0000819 oboInOwl:hasExactSynonym "B1 cell" CL:0000819 oboInOwl:hasExactSynonym "B1 B lymphocyte" +MONDO:0100148 oboInOwl:hasExactSynonym "X-linked complex neurodevelopmental disorder" MONDO:0005947 oboInOwl:hasExactSynonym "Rickettsiaceae caused pneumonia" MONDO:0005947 oboInOwl:hasExactSynonym "Rickettsiaceae pneumonia" -MONDO:0100148 oboInOwl:hasExactSynonym "X-linked complex neurodevelopmental disorder" MONDO:0009046 oboInOwl:hasExactSynonym "cryptophthalmos with other malformations" MONDO:0009046 oboInOwl:hasExactSynonym "cryptophthalmos-syndactyly syndrome" MONDO:0009046 oboInOwl:hasExactSynonym "Fraser syndrome" @@ -135296,6 +136598,7 @@ GO:0070130 oboInOwl:hasExactSynonym "negative regulation of mitochondrial protei GO:0070130 oboInOwl:hasExactSynonym "negative regulation of mitochondrial protein synthesis" MONDO:0016868 oboInOwl:hasExactSynonym "partial monosomy of chromosome 3" MONDO:0016868 oboInOwl:hasExactSynonym "partial deletion of chromosome type 3" +MONDO:0004545 oboInOwl:hasExactSynonym "adult malignant tumor of the peripheral nerve sheath" MONDO:0004545 oboInOwl:hasExactSynonym "adult MPNST" MONDO:0004545 oboInOwl:hasExactSynonym "adult malignant neoplasm of the peripheral nerve sheath" MONDO:0004545 oboInOwl:hasExactSynonym "adult malignant schwannoma" @@ -135304,7 +136607,6 @@ MONDO:0004545 oboInOwl:hasExactSynonym "adult malignant neurilemmoma" MONDO:0004545 oboInOwl:hasExactSynonym "adult malignant peripheral nerve sheath neoplasm" MONDO:0004545 oboInOwl:hasExactSynonym "adult malignant peripheral nerve sheath tumor" MONDO:0004545 oboInOwl:hasExactSynonym "adult malignant neoplasm of peripheral nerve sheath" -MONDO:0004545 oboInOwl:hasExactSynonym "adult malignant tumor of the peripheral nerve sheath" ECTO:0000931 oboInOwl:hasExactSynonym "exposure to environmental contaminant" MONDO:0002501 oboInOwl:hasExactSynonym "glioblastoma (disease) of brain" MONDO:0002501 oboInOwl:hasExactSynonym "grade IV astrocytic tumor of brain" @@ -135351,8 +136653,10 @@ GO:0050907 oboInOwl:hasExactSynonym "sensory detection of chemical stimulus" GO:0050907 oboInOwl:hasExactSynonym "sensory perception, sensory transduction of chemical stimulus" GO:0050907 oboInOwl:hasExactSynonym "sensory transduction of chemical stimulus during sensory perception" MONDO:0021932 oboInOwl:hasExactSynonym "Infection by Trypanosoma gambiense" +MONDO:0010401 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome, classic-like, 1" MONDO:0010401 oboInOwl:hasExactSynonym "XMPMA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010401 oboInOwl:hasExactSynonym "X-linked myopathy with postural muscle atrophy" +MONDO:0010401 oboInOwl:hasExactSynonym "myopathy, X-linked, with postural muscle atrophy, X-linked recessive" MONDO:0012166 oboInOwl:hasExactSynonym "ADSA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012166 oboInOwl:hasExactSynonym "RNF170 hereditary ataxia" MONDO:0012166 oboInOwl:hasExactSynonym "SNAX1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -135386,6 +136690,9 @@ MONDO:0014345 oboInOwl:hasExactSynonym "retinitis pigmentosa type 69" MONDO:0014345 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation in KIZ" MONDO:0013282 oboInOwl:hasExactSynonym "A1AD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013282 oboInOwl:hasExactSynonym "AAT deficiency" +MONDO:0013282 oboInOwl:hasExactSynonym "emphysema due to AAT deficiency" +MONDO:0013282 oboInOwl:hasExactSynonym "emphysema-cirrhosis, due to AAT deficiency" +MONDO:0013282 oboInOwl:hasExactSynonym "hemorrhagic diathesis due to antithrombin pittsburgh" MONDO:0013282 oboInOwl:hasExactSynonym "deficiency in Alpa-1-proteinase inhibitor" MONDO:0013282 oboInOwl:hasExactSynonym "A-1ATD" MONDO:0013282 oboInOwl:hasExactSynonym "alpha 1-antitrypsin deficiency" @@ -135416,6 +136723,8 @@ MONDO:0006937 oboInOwl:hasExactSynonym "dental pulp inflammation" MONDO:0011133 oboInOwl:hasExactSynonym "Warburg-Thomsen syndrome" MONDO:0011133 oboInOwl:hasExactSynonym "Yemenite deaf-blind hypopigmentation syndrome" MONDO:0010395 oboInOwl:hasExactSynonym "PRPP synthetase superactivity" +MONDO:0010395 oboInOwl:hasExactSynonym "phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive" +MONDO:0010395 oboInOwl:hasExactSynonym "gout, PRPS-related, X-linked recessive" MONDO:0010395 oboInOwl:hasExactSynonym "PRPS1 superactivity" MONDO:0010395 oboInOwl:hasExactSynonym "phosphoribosylpyrophosphate synthetase superactivity" MONDO:0020460 oboInOwl:hasExactSynonym "acquired von Willebrand disease" @@ -135431,6 +136740,7 @@ NCBITaxon:78536 oboInOwl:hasExactSynonym "euphyllophytes" http://purl.obolibrary MONDO:0008911 oboInOwl:hasExactSynonym "cardiac lipidosis, familial" MONDO:0012574 oboInOwl:hasExactSynonym "17p11.2 microduplication syndrome" MONDO:0012574 oboInOwl:hasExactSynonym "17p11.2 Duplication syndrome" +MONDO:0012574 oboInOwl:hasExactSynonym "Potocki-Lupski syndrome, Isolated cases" MONDO:0012574 oboInOwl:hasExactSynonym "trisomy 17p11.2" MONDO:0012574 oboInOwl:hasExactSynonym "Potocki-Lupski syndrome" MONDO:0012574 oboInOwl:hasExactSynonym "chromosome 17p11.2 duplication syndrome" @@ -135542,6 +136852,7 @@ MONDO:0016446 oboInOwl:hasExactSynonym "acquired cutis laxa" MONDO:0016446 oboInOwl:hasExactSynonym "cutis laxa acquisita" MONDO:0013568 oboInOwl:hasExactSynonym "sick sinus syndrome 3, susceptibility to" MONDO:0013568 oboInOwl:hasExactSynonym "MYH6 familial sick sinus syndrome" +MONDO:0013568 oboInOwl:hasExactSynonym "sick sinus syndrome 3" MONDO:0013568 oboInOwl:hasExactSynonym "familial sick sinus syndrome caused by mutation in MYH6" MONDO:0008842 oboInOwl:hasExactSynonym "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia" MONDO:0008842 oboInOwl:hasExactSynonym "oculomotor apraxia or related oculomotor disease caused by mutation in APTX" @@ -135566,6 +136877,7 @@ GO:0055114 oboInOwl:hasExactSynonym "oxidation reduction" MONDO:0020695 oboInOwl:hasExactSynonym "hypotonic cerebral palsy" MONDO:0001230 oboInOwl:hasExactSynonym "acute inflammation of orbit" SO:0000803 oboInOwl:hasExactSynonym "assortment derived aneuploid" +MONDO:0009259 oboInOwl:hasExactSynonym "hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency" MONDO:0009259 oboInOwl:hasExactSynonym "gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to" MONDO:0009259 oboInOwl:hasExactSynonym "glutamate-cysteine ligase deficiency" MONDO:0009259 oboInOwl:hasExactSynonym "rare inborn error of glutamate-cysteine ligase activity" @@ -135575,6 +136887,7 @@ MONDO:0032822 oboInOwl:hasExactSynonym "DEE80" http://purl.obolibrary.org/obo/mo MONDO:0032822 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 80" MONDO:0032822 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80" MONDO:0032822 oboInOwl:hasExactSynonym "EIEE80" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032822 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 80" HP:0100606 oboInOwl:hasExactSynonym "Respiratory system tumour" http://purl.obolibrary.org/obo/hp.obo#uk_spelling HP:0100606 oboInOwl:hasExactSynonym "Respiratory system tumor" http://purl.obolibrary.org/obo/hp.obo#layperson GO:1903786 oboInOwl:hasExactSynonym "regulation of glutathione formation" @@ -135620,12 +136933,13 @@ MONDO:0002671 oboInOwl:hasExactSynonym "primary SRC carcinoma of breast" MONDO:0002671 oboInOwl:hasExactSynonym "mammary signet Ring cell carcinoma" MONDO:0007183 oboInOwl:hasExactSynonym "azotemia, familial" MONDO:0010560 oboInOwl:hasExactSynonym "cleft palate with or without ankyloglossia, X-linked" +MONDO:0010560 oboInOwl:hasExactSynonym "cleft palate with ankyloglossia" MONDO:0010560 oboInOwl:hasExactSynonym "X-linked cleft palate and ankyloglossia" GO:1901403 oboInOwl:hasExactSynonym "up-regulation of tetrapyrrole metabolism" GO:1901403 oboInOwl:hasExactSynonym "up regulation of tetrapyrrole metabolic process" GO:1901403 oboInOwl:hasExactSynonym "upregulation of tetrapyrrole metabolism" -GO:1901403 oboInOwl:hasExactSynonym "activation of tetrapyrrole metabolism" GO:1901403 oboInOwl:hasExactSynonym "upregulation of tetrapyrrole metabolic process" +GO:1901403 oboInOwl:hasExactSynonym "activation of tetrapyrrole metabolism" GO:1901403 oboInOwl:hasExactSynonym "up-regulation of tetrapyrrole metabolic process" GO:1901403 oboInOwl:hasExactSynonym "positive regulation of tetrapyrrole metabolism" GO:1901403 oboInOwl:hasExactSynonym "up regulation of tetrapyrrole metabolism" @@ -135656,8 +136970,8 @@ GO:1905125 oboInOwl:hasExactSynonym "upregulation of beta-glucosylceramidase act GO:1905125 oboInOwl:hasExactSynonym "upregulation of glucosylsphingosine beta-glucosidase activity" GO:1905125 oboInOwl:hasExactSynonym "up regulation of glucosylceramidase activity" GO:1905125 oboInOwl:hasExactSynonym "upregulation of beta-D-glucocerebrosidase activity" -GO:1905125 oboInOwl:hasExactSynonym "upregulation of glucosylsphingosine beta-D-glucosidase activity" GO:1905125 oboInOwl:hasExactSynonym "upregulation of beta-glucocerebrosidase activity" +GO:1905125 oboInOwl:hasExactSynonym "upregulation of glucosylsphingosine beta-D-glucosidase activity" GO:1905125 oboInOwl:hasExactSynonym "positive regulation of glucosylsphingosine beta-D-glucosidase activity" GO:1905125 oboInOwl:hasExactSynonym "positive regulation of beta-glucosylceramidase activity" GO:1905125 oboInOwl:hasExactSynonym "upregulation of glucosphingosine glucosylhydrolase activity" @@ -135739,6 +137053,7 @@ MONDO:0014558 oboInOwl:hasExactSynonym "autosomal dominant intellectual disabili MONDO:0014558 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant type 32" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014558 oboInOwl:hasExactSynonym "autosomal dominant mental retardation 32" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014558 oboInOwl:hasExactSynonym "MRD32" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014558 oboInOwl:hasExactSynonym "Arboleda-Tham syndrome" MONDO:0014558 oboInOwl:hasExactSynonym "autosomal dominant intellectual disability 32" MONDO:0008621 oboInOwl:hasExactSynonym "uncombable hair syndrome" MONDO:0008621 oboInOwl:hasExactSynonym "pili trianguli et canaliculi" @@ -135798,6 +137113,7 @@ MONDO:0008006 oboInOwl:hasExactSynonym "Möbius syndrome" MONDO:0008006 oboInOwl:hasExactSynonym "Mobius syndrome" MONDO:0008006 oboInOwl:hasExactSynonym "Moebius congenital oculofacial paralysis" MONDO:0008006 oboInOwl:hasExactSynonym "congenital facial diplegia" +MONDO:0008006 oboInOwl:hasExactSynonym "Moebius syndrome, Isolated cases" MONDO:0008006 oboInOwl:hasExactSynonym "oromandibular-limb hypogenesis spectrum" MONDO:0003747 oboInOwl:hasExactSynonym "telangiectatic glomangioma" MONDO:0005674 oboInOwl:hasExactSynonym "giant cell tumor of bone (morphologic abnormality)" @@ -135820,6 +137136,7 @@ MONDO:0018680 oboInOwl:hasExactSynonym "lymphocytoma cutis" MONDO:0018680 oboInOwl:hasExactSynonym "lymphadenosis Benigna cutis" MONDO:0018680 oboInOwl:hasExactSynonym "pseudolymphoma of Spiegler" GO:0009755 oboInOwl:hasExactSynonym "hormone mediated signalling" +MONDO:0011084 oboInOwl:hasExactSynonym "psoriasis susceptibility 3" MONDO:0011084 oboInOwl:hasExactSynonym "psoriasis 3, susceptibility to" MONDO:0011084 oboInOwl:hasExactSynonym "PSORS3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000492 oboInOwl:hasExactSynonym "chronic venous insufficiency (disease)" @@ -135846,6 +137163,7 @@ MONDO:0009424 oboInOwl:hasExactSynonym "hypokalemic alkalosis with hypercalciuri MONDO:0009424 oboInOwl:hasExactSynonym "Bartter disease type 2" MONDO:0009424 oboInOwl:hasExactSynonym "BARTS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009424 oboInOwl:hasExactSynonym "hyperprostaglandin E syndrome 2" +MONDO:0009424 oboInOwl:hasExactSynonym "Bartter syndrome, type 2" MONDO:0009424 oboInOwl:hasExactSynonym "KCNJ1 Bartter syndrome" MONDO:0009424 oboInOwl:hasExactSynonym "Bartter syndrome caused by mutation in KCNJ1" MONDO:0013087 oboInOwl:hasExactSynonym "bronchiectasis caused by mutation in SCNN1A" @@ -135894,11 +137212,14 @@ MONDO:0013274 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation MONDO:0013274 oboInOwl:hasExactSynonym "retinitis pigmentosa type 51" MONDO:0013274 oboInOwl:hasExactSynonym "RP51" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011962 oboInOwl:hasExactSynonym "endometrium cancer" +MONDO:0011962 oboInOwl:hasExactSynonym "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation" MONDO:0011962 oboInOwl:hasExactSynonym "malignant endometrial neoplasm" MONDO:0011962 oboInOwl:hasExactSynonym "endometrial Ca" MONDO:0011962 oboInOwl:hasExactSynonym "cancer of endometrium" MONDO:0011962 oboInOwl:hasExactSynonym "malignant neoplasm of endometrium" MONDO:0011962 oboInOwl:hasExactSynonym "endometrial cancer" +MONDO:0011962 oboInOwl:hasExactSynonym "endometrial carcinoma, somatic" +MONDO:0011962 oboInOwl:hasExactSynonym "endometrial cancer, familial, autosomal dominant, somatic mutation" MONDO:0011962 oboInOwl:hasExactSynonym "malignant endometrium neoplasm" MONDO:0011962 oboInOwl:hasExactSynonym "primary malignant neoplasm of endometrium" MONDO:0019783 oboInOwl:hasExactSynonym "secondary angle-closure glaucoma with rubeosis" @@ -135923,37 +137244,43 @@ MONDO:0009290 oboInOwl:hasExactSynonym "glycogen storage disease type 2" MONDO:0009290 oboInOwl:hasExactSynonym "GSD type 2" MONDO:0009290 oboInOwl:hasExactSynonym "deficiency of glucoamylase" MONDO:0009290 oboInOwl:hasExactSynonym "GAA glycogen storage disease" -MONDO:0010029 oboInOwl:hasExactSynonym "laterality sequence" -MONDO:0010029 oboInOwl:hasExactSynonym "complete situs inversus" MONDO:0010029 oboInOwl:hasExactSynonym "situs ambiguus" -MONDO:0010029 oboInOwl:hasExactSynonym "complete transposition (morphologic abnormality)" -MONDO:0010029 oboInOwl:hasExactSynonym "situs inversus" +MONDO:0010029 oboInOwl:hasExactSynonym "heterotaxy, visceral, 5" +MONDO:0010029 oboInOwl:hasExactSynonym "situs inversus totalis (disease)" MONDO:0010029 oboInOwl:hasExactSynonym "complete situs inversus viscerum" +MONDO:0010029 oboInOwl:hasExactSynonym "situs inversus" +MONDO:0010029 oboInOwl:hasExactSynonym "complete situs inversus" MONDO:0010029 oboInOwl:hasExactSynonym "situs inversus totalis" -MONDO:0010029 oboInOwl:hasExactSynonym "situs inversus totalis (disease)" +MONDO:0010029 oboInOwl:hasExactSynonym "laterality sequence" +MONDO:0010029 oboInOwl:hasExactSynonym "complete transposition (morphologic abnormality)" MONDO:0013599 oboInOwl:hasExactSynonym "immunodeficiency type 31C" +MONDO:0013599 oboInOwl:hasExactSynonym "immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant" MONDO:0012229 oboInOwl:hasExactSynonym "MYP9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012229 oboInOwl:hasExactSynonym "myopia 9" MONDO:0002190 oboInOwl:hasExactSynonym "syringoma of mammalian vulva" MONDO:0002190 oboInOwl:hasExactSynonym "mammalian vulva syringoma" MONDO:0002190 oboInOwl:hasExactSynonym "vulvar syringoma" MONDO:0014502 oboInOwl:hasExactSynonym "ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" +MONDO:0014502 oboInOwl:hasExactSynonym "immunodeficiency 38" MONDO:0014502 oboInOwl:hasExactSynonym "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15" MONDO:0014502 oboInOwl:hasExactSynonym "MSMD due to complete ISG15 deficiency" MONDO:0008093 oboInOwl:hasExactSynonym "nonepidermolytic keratinocytic nevus" MONDO:0008093 oboInOwl:hasExactSynonym "Epidermal Nevus" MONDO:0008093 oboInOwl:hasExactSynonym "nevus, epidermal" +MONDO:0008093 oboInOwl:hasExactSynonym "nevus, epidermal, somatic" +MONDO:0008093 oboInOwl:hasExactSynonym "epidermal nevus, somatic" +MONDO:0008093 oboInOwl:hasExactSynonym "nevus sebaceous or woolly hair nevus, somatic" GO:1902600 oboInOwl:hasExactSynonym "hydrogen ion transmembrane transport" GO:1902600 oboInOwl:hasExactSynonym "hydrogen transmembrane transport" GO:1902600 oboInOwl:hasExactSynonym "proton transmembrane transport" MONDO:0020148 oboInOwl:hasExactSynonym "syndrome associated with aniridia" MONDO:0020148 oboInOwl:hasExactSynonym "syndromic aniridia" -MONDO:0024653 oboInOwl:hasExactSynonym "tumor of skull" MONDO:0024653 oboInOwl:hasExactSynonym "neoplasm of the skull" MONDO:0024653 oboInOwl:hasExactSynonym "skull neoplasm" MONDO:0024653 oboInOwl:hasExactSynonym "neoplasm of skull" MONDO:0024653 oboInOwl:hasExactSynonym "tumor of the skull" MONDO:0024653 oboInOwl:hasExactSynonym "skull tumor" +MONDO:0024653 oboInOwl:hasExactSynonym "tumor of skull" MONDO:0012544 oboInOwl:hasExactSynonym "brachydactyly-syndactyly syndrome" MONDO:0014723 oboInOwl:hasExactSynonym "dup(17)(p11.2p12)" MONDO:0014723 oboInOwl:hasExactSynonym "trisomy 17p11.2p12" @@ -135969,11 +137296,12 @@ GO:0033674 oboInOwl:hasExactSynonym "upregulation of kinase activity" GO:0033674 oboInOwl:hasExactSynonym "up regulation of kinase activity" CL:1000327 oboInOwl:hasExactSynonym "goblet cell of epithelium proper of appendix" CL:0002305 oboInOwl:hasExactSynonym "kidney distal tubule epithelial cell" -MONDO:0001482 oboInOwl:hasExactSynonym "testicular leukemia" NCBITaxon:7898 oboInOwl:hasExactSynonym "ray-finned fishes" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name NCBITaxon:7898 oboInOwl:hasExactSynonym "fish" http://purl.obolibrary.org/obo/ncbitaxon#common_name NCBITaxon:7898 oboInOwl:hasExactSynonym "fishes" http://purl.obolibrary.org/obo/ncbitaxon#common_name +MONDO:0001482 oboInOwl:hasExactSynonym "testicular leukemia" MONDO:0012731 oboInOwl:hasExactSynonym "hereditary elliptocytosis caused by mutation in EPB41" +MONDO:0012731 oboInOwl:hasExactSynonym "elliptocytosis-1" MONDO:0012731 oboInOwl:hasExactSynonym "elliptocytosis type 1" MONDO:0012731 oboInOwl:hasExactSynonym "elliptocytosis 1" MONDO:0012731 oboInOwl:hasExactSynonym "EPB41 hereditary elliptocytosis" @@ -136022,7 +137350,9 @@ MONDO:0007268 oboInOwl:hasExactSynonym "MYBPC3 hypertrophic cardiomyopathy" MONDO:0007268 oboInOwl:hasExactSynonym "familial hypertrophic cardiomyopathy type 4" MONDO:0007268 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy caused by mutation in MYBPC3" MONDO:0007268 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 4" +MONDO:0007268 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 4" MONDO:0100157 oboInOwl:hasExactSynonym "megaloblastic anemia, Norwegian type" +MONDO:0100157 oboInOwl:hasExactSynonym "Imerslund-Grasbeck syndrome 2" MONDO:0004702 oboInOwl:hasExactSynonym "leukoplakia of the cervix" MONDO:0004702 oboInOwl:hasExactSynonym "cervix leukoplakia" MONDO:0004702 oboInOwl:hasExactSynonym "leukoplakia of cervix (uteri)" @@ -136079,6 +137409,7 @@ MONDO:0006256 oboInOwl:hasExactSynonym "infiltrating carcinoma of the breast" MONDO:0006256 oboInOwl:hasExactSynonym "invasive breast cancer" MONDO:0006256 oboInOwl:hasExactSynonym "infiltrating breast carcinoma" MONDO:0100344 oboInOwl:hasExactSynonym "Bartter syndrome type 1" +MONDO:0100344 oboInOwl:hasExactSynonym "Bartter syndrome, type 1" MONDO:0100344 oboInOwl:hasExactSynonym "Bartter syndrome, furosemide type" MONDO:0100344 oboInOwl:hasExactSynonym "Bartter syndrome type 1 antenatal" MONDO:0100344 oboInOwl:hasExactSynonym "SLC12A1 Bartter syndrome" @@ -136216,6 +137547,7 @@ MONDO:0021345 oboInOwl:hasExactSynonym "cancer of the pharynx" MONDO:0011993 oboInOwl:hasExactSynonym "aspirin resistance" MONDO:0007550 oboInOwl:hasExactSynonym "EBSDM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007550 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex, herpetiformis" +MONDO:0007550 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex 1A, generalized severe" MONDO:0007550 oboInOwl:hasExactSynonym "epidermolysis bullosa herpetiformis Dowling-Meara type" MONDO:0007550 oboInOwl:hasExactSynonym "generalized severe epidermolysis bullosa simplex" MONDO:0007550 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex Dowling-Meara type" @@ -136347,6 +137679,7 @@ MONDO:0003349 oboInOwl:hasExactSynonym "leiomyosarcoma of central nervous system MONDO:0003232 oboInOwl:hasExactSynonym "alcoholic pancreatitis" MONDO:0011414 oboInOwl:hasExactSynonym "Peters anomaly (disease)" MONDO:0011414 oboInOwl:hasExactSynonym "Peters anomaly" +MONDO:0011414 oboInOwl:hasExactSynonym "anterior segment dysgenesis 5, multiple subtypes" MONDO:0011414 oboInOwl:hasExactSynonym "Peters congenital glaucoma" MONDO:0001920 oboInOwl:hasExactSynonym "CSOM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0001920 oboInOwl:hasExactSynonym "chronic suppurative otitis Media" @@ -136380,15 +137713,15 @@ MONDO:0010144 oboInOwl:hasExactSynonym "congenital aplasia and dysplasia of the MONDO:0010144 oboInOwl:hasExactSynonym "congenital longitudinal deficiency of the tibia" MONDO:0010144 oboInOwl:hasExactSynonym "tibial longitudinal meromelia" MONDO:0010144 oboInOwl:hasExactSynonym "tibial hemimelia" -MONDO:0012987 oboInOwl:hasExactSynonym "agammaglobulinemia 6, autosomal recessive" -MONDO:0012987 oboInOwl:hasExactSynonym "CD79B autosomal agammaglobulinemia" -MONDO:0012987 oboInOwl:hasExactSynonym "autosomal agammaglobulinemia caused by mutation in CD79B" MONDO:0002337 oboInOwl:hasExactSynonym "hemangioma of intra-abdominal structure" MONDO:0002337 oboInOwl:hasExactSynonym "intra-abdominal hemangioma" MONDO:0002337 oboInOwl:hasExactSynonym "hemangioma, intra-abdominal" MONDO:0002337 oboInOwl:hasExactSynonym "hemangioma of intra-abdominal structures" MONDO:0002337 oboInOwl:hasExactSynonym "abdominal cavity hemangioma" MONDO:0002337 oboInOwl:hasExactSynonym "hemangioma of abdominal cavity" +MONDO:0012987 oboInOwl:hasExactSynonym "agammaglobulinemia 6, autosomal recessive" +MONDO:0012987 oboInOwl:hasExactSynonym "CD79B autosomal agammaglobulinemia" +MONDO:0012987 oboInOwl:hasExactSynonym "autosomal agammaglobulinemia caused by mutation in CD79B" GO:0050908 oboInOwl:hasExactSynonym "sensory detection of light during visual perception" GO:0050908 oboInOwl:hasExactSynonym "sensory transduction of light during visual perception" GO:0050908 oboInOwl:hasExactSynonym "visual perception, detection of light stimulus" @@ -136406,6 +137739,7 @@ MONDO:0010402 oboInOwl:hasExactSynonym "intellectual disability, X-linked 94" MONDO:0010402 oboInOwl:hasExactSynonym "syndromic X-linked mental retardation Wu type" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010402 oboInOwl:hasExactSynonym "syndromic X-linked mental retardation 29" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010402 oboInOwl:hasExactSynonym "MRXS29" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010402 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked, syndromic, Wu type, X-linked recessive" MONDO:0010402 oboInOwl:hasExactSynonym "MRX94" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0000820 oboInOwl:hasExactSynonym "regulation of glutamine family amino acid metabolism" MONDO:0016869 oboInOwl:hasExactSynonym "partial monosomy of chromosome 4" @@ -136461,6 +137795,7 @@ MONDO:0021064 oboInOwl:hasExactSynonym "tumor of the glomus jugulare" MONDO:0033364 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 55" MONDO:0033364 oboInOwl:hasExactSynonym "EIEE55" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033364 oboInOwl:hasExactSynonym "DEE55" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0033364 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 55" MONDO:0002182 oboInOwl:hasExactSynonym "communicative disorders" MONDO:0000870 oboInOwl:hasExactSynonym "pediatric acute lymphogenous leukemia" MONDO:0000870 oboInOwl:hasExactSynonym "pediatric ALL" @@ -136521,6 +137856,7 @@ MONDO:0006140 oboInOwl:hasExactSynonym "cervical mucinous adenocarcinoma, minima MONDO:0006140 oboInOwl:hasExactSynonym "cervical mucinous adenocarcinoma, minimal deviation variant" MONDO:0006140 oboInOwl:hasExactSynonym "cervical adenoma malignum" MONDO:0011134 oboInOwl:hasExactSynonym "curry-Jones syndrome" +MONDO:0011134 oboInOwl:hasExactSynonym "Curry-Jones syndrome, somatic mosaic" MONDO:0011134 oboInOwl:hasExactSynonym "corpus callosum agenesis-polysyndactyly syndrome" MONDO:0013977 oboInOwl:hasExactSynonym "PNPT1 combined oxidative phosphorylation deficiency" MONDO:0013977 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency caused by mutation in PNPT1" @@ -136557,6 +137893,7 @@ MONDO:0004065 oboInOwl:hasExactSynonym "intermediate cell type uveal melanoma of MONDO:0004065 oboInOwl:hasExactSynonym "mixed cell melanoma of choroid" MONDO:0004065 oboInOwl:hasExactSynonym "optic choroid intermediate cell type uveal melanoma" MONDO:0004065 oboInOwl:hasExactSynonym "Intermediate cell type choroid melanoma" +MONDO:0010404 oboInOwl:hasExactSynonym "spinocerebellar ataxia, X-linked 5, X-linked recessive" MONDO:0010404 oboInOwl:hasExactSynonym "X-linked spinocerebellar ataxia type 5" MONDO:0010404 oboInOwl:hasExactSynonym "SCAX5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005011 oboInOwl:hasExactSynonym "regional enteritis" @@ -136594,6 +137931,7 @@ CHEBI:50336 oboInOwl:hasExactSynonym "4-hydroxybenzyl" HP:0012730 oboInOwl:hasExactSynonym "Absence of tongue" HP:0012730 oboInOwl:hasExactSynonym "Failure of development of tongue" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0015006 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex, generalized, with scarring and hair loss" +MONDO:0015006 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss" MONDO:0015006 oboInOwl:hasExactSynonym "EBSSH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015006 oboInOwl:hasExactSynonym "generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss" MONDO:0015006 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH" @@ -136614,6 +137952,7 @@ MONDO:0012050 oboInOwl:hasExactSynonym "major depressive disorder type 1" MONDO:0012050 oboInOwl:hasExactSynonym "major depressive disorder 1" MONDO:0011280 oboInOwl:hasExactSynonym "SCZD6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011280 oboInOwl:hasExactSynonym "schizophrenia 6" +MONDO:0011280 oboInOwl:hasExactSynonym "schizophrenia, susceptibility to" MONDO:0019918 oboInOwl:hasExactSynonym "maternal uniparental disomy of chromosome type 21" MONDO:0019918 oboInOwl:hasExactSynonym "UPD(21)mat" MONDO:0010175 oboInOwl:hasExactSynonym "van Bogaert-Hozay syndrome" @@ -136673,16 +138012,17 @@ MONDO:0010396 oboInOwl:hasExactSynonym "CDKL5 early infantile epileptic encephal MONDO:0010396 oboInOwl:hasExactSynonym "DEE2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010396 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 2" MONDO:0010396 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy, 2" +MONDO:0010396 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 2, X-linked dominant" MONDO:0001727 oboInOwl:hasExactSynonym "active cochleovestibular Meniere's disease" MONDO:0001727 oboInOwl:hasExactSynonym "active cochleovestibular Meniere disease" MONDO:0001727 oboInOwl:hasExactSynonym "cochleovestibular active Mnire's disease" MONDO:0001727 oboInOwl:hasExactSynonym "active Meniere's disease, cochleovestibular" -GO:0006110 oboInOwl:hasExactSynonym "regulation of glycolysis involved in cellular glucose homeostasis" MONDO:0024489 oboInOwl:hasExactSynonym "disease grade qualifier" +GO:0006110 oboInOwl:hasExactSynonym "regulation of glycolysis involved in cellular glucose homeostasis" MONDO:0007184 oboInOwl:hasExactSynonym "AGA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007184 oboInOwl:hasExactSynonym "alopecia, androgenetic, 1" -MONDO:0005872 oboInOwl:hasExactSynonym "malignant neoplasm of the nervous system" MONDO:0005872 oboInOwl:hasExactSynonym "malignant neoplasm of nervous system" +MONDO:0005872 oboInOwl:hasExactSynonym "malignant neoplasm of the nervous system" MONDO:0005872 oboInOwl:hasExactSynonym "malignant tumor of the nervous system" MONDO:0005872 oboInOwl:hasExactSynonym "malignant nervous system tumor" MONDO:0005872 oboInOwl:hasExactSynonym "cancer of nervous system" @@ -136706,6 +138046,7 @@ GO:0043891 oboInOwl:hasExactSynonym "triosephosphate dehydrogenase (NAD(P))" GO:0043891 oboInOwl:hasExactSynonym "glyceraldehyde-3-phosphate dehydrogenase (NAD(P)) (phosphorylating)" GO:0043891 oboInOwl:hasExactSynonym "D-glyceraldehyde 3-phosphate:NAD(P)+ oxidoreductase (phosphorylating)" MONDO:0015397 oboInOwl:hasExactSynonym "unilateral or bilateral and asymmetric otomandibular dysplasia" +MONDO:0015397 oboInOwl:hasExactSynonym "craniofacial microsomia" MONDO:0015397 oboInOwl:hasExactSynonym "oculoauriculovertebral syndrome" MONDO:0015397 oboInOwl:hasExactSynonym "OAV dysplasia" MONDO:0015397 oboInOwl:hasExactSynonym "OAV (oculoauriculovertebral) dysplasia" @@ -136742,6 +138083,7 @@ MONDO:0004234 oboInOwl:hasExactSynonym "indolent NK-cell lymphoproliferative dis MONDO:0009993 oboInOwl:hasExactSynonym "embryonal rhabdomyosarcoma" MONDO:0009993 oboInOwl:hasExactSynonym "rhabdomyosarcoma, embryonal, type 1" MONDO:0009993 oboInOwl:hasExactSynonym "embryonal rhabdomyosarcoma (disease)" +MONDO:0009993 oboInOwl:hasExactSynonym "rhabdomyosarcoma, somatic" MONDO:0009993 oboInOwl:hasExactSynonym "ERMS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0004601 oboInOwl:hasExactSynonym "peroxidase reaction" MONDO:0013157 oboInOwl:hasExactSynonym "muscle-eye-brain-FKRP related" @@ -136794,6 +138136,7 @@ MONDO:0001895 oboInOwl:hasExactSynonym "retrobulbar neuritis (acute)" MONDO:0001548 oboInOwl:hasExactSynonym "hepatocerebral intoxication" MONDO:0010340 oboInOwl:hasExactSynonym "Asperger syndrome, X-linked, susceptibility to, type 1" MONDO:0010340 oboInOwl:hasExactSynonym "Asperger syndrome, X-linked, susceptibility to, 1" +MONDO:0010340 oboInOwl:hasExactSynonym "Asperger syndrome susceptibility, X-linked 1, Isolated cases, X-linked" MONDO:0017803 oboInOwl:hasExactSynonym "PPAOS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013829 oboInOwl:hasExactSynonym "UV-sensitive syndrome type 2" MONDO:0013829 oboInOwl:hasExactSynonym "ERCC8 UV-sensitive syndrome" @@ -136834,6 +138177,7 @@ MONDO:0008094 oboInOwl:hasExactSynonym "port wine Nevus" MONDO:0008094 oboInOwl:hasExactSynonym "port wine stain of skin" MONDO:0008094 oboInOwl:hasExactSynonym "familial multiple port-wine stains" MONDO:0008094 oboInOwl:hasExactSynonym "Nevus flammeus" +MONDO:0008094 oboInOwl:hasExactSynonym "capillary malformations, congenital, 1, somatic, mosaic" MONDO:0008094 oboInOwl:hasExactSynonym "port wine type hemangioma" MONDO:0008094 oboInOwl:hasExactSynonym "port wine birthmark" MONDO:0008094 oboInOwl:hasExactSynonym "Salmon patch Nevus" @@ -136857,16 +138201,19 @@ GO:0005634 oboInOwl:hasExactSynonym "cell nucleus" MONDO:0014034 oboInOwl:hasExactSynonym "autosomal dominant mental retardation 18" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014034 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant type 18" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014034 oboInOwl:hasExactSynonym "autosomal dominant intellectual disability 18" +MONDO:0014034 oboInOwl:hasExactSynonym "GAND syndrome" MONDO:0014034 oboInOwl:hasExactSynonym "MRD18" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014034 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant type 18" MONDO:0014034 oboInOwl:hasExactSynonym "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" +MONDO:0010561 oboInOwl:hasExactSynonym "Coffin-Lowry syndrome, X-linked dominant" MONDO:0010561 oboInOwl:hasExactSynonym "Coffin-Lowry syndrome" MONDO:0010561 oboInOwl:hasExactSynonym "CLS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012159 oboInOwl:hasExactSynonym "lung cancer susceptibility 1" +MONDO:0012159 oboInOwl:hasExactSynonym "lung cancer susceptibility" MONDO:0012159 oboInOwl:hasExactSynonym "LNCR1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024654 oboInOwl:hasExactSynonym "skull disease" -MONDO:0024654 oboInOwl:hasExactSynonym "disorder of skull" MONDO:0024654 oboInOwl:hasExactSynonym "skull disease or disorder" +MONDO:0024654 oboInOwl:hasExactSynonym "disorder of skull" MONDO:0024654 oboInOwl:hasExactSynonym "disease or disorder of skull" MONDO:0024654 oboInOwl:hasExactSynonym "skull disorder" MONDO:0024654 oboInOwl:hasExactSynonym "disease of skull" @@ -136915,6 +138262,7 @@ GO:0048518 oboInOwl:hasExactSynonym "up-regulation of biological process" MONDO:0023642 oboInOwl:hasExactSynonym "Weber-Gubler syndrome" MONDO:0008717 oboInOwl:hasExactSynonym "acromesomelic dwarfism" MONDO:0008717 oboInOwl:hasExactSynonym "acromesomelic dysplasia, Hunter-Thompson type" +MONDO:0008717 oboInOwl:hasExactSynonym "acromesomelic dysplasia 2C, Hunter-Thompson type" MONDO:0030439 oboInOwl:hasExactSynonym "SPGF57" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016709 oboInOwl:hasExactSynonym "large cell/anaplastic medulloblastoma" MONDO:0013322 oboInOwl:hasExactSynonym "FAME3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -137045,6 +138393,7 @@ MONDO:0006257 oboInOwl:hasExactSynonym "carcinoid tumor of jejunum" MONDO:0012480 oboInOwl:hasExactSynonym "transient neonatal diabetes mellitus (disease) caused by mutation in ABCC8" MONDO:0012480 oboInOwl:hasExactSynonym "diabetes mellitus, transient neonatal, 2" MONDO:0012480 oboInOwl:hasExactSynonym "diabetes mellitus, transient neonatal, type 2" +MONDO:0012480 oboInOwl:hasExactSynonym "diabetes mellitus, transient neonatal 2" MONDO:0012480 oboInOwl:hasExactSynonym "ABCC8 transient neonatal diabetes mellitus (disease)" MONDO:0002360 oboInOwl:hasExactSynonym "central chondroma" MONDO:0002360 oboInOwl:hasExactSynonym "chondroma, benign" @@ -137152,6 +138501,7 @@ MONDO:0004790 oboInOwl:hasExactSynonym "fatty liver" MONDO:0004790 oboInOwl:hasExactSynonym "fatty change of liver" GO:0097190 oboInOwl:hasExactSynonym "induction of apoptosis by extracellular signals" GO:0097190 oboInOwl:hasExactSynonym "apoptotic signalling pathway" +MONDO:0044280 oboInOwl:hasExactSynonym "glycerol quantitative trait locus" GO:0032102 oboInOwl:hasExactSynonym "downregulation of response to external stimulus" GO:0032102 oboInOwl:hasExactSynonym "down-regulation of response to external stimulus" GO:0032102 oboInOwl:hasExactSynonym "down regulation of response to external stimulus" @@ -137222,6 +138572,11 @@ MONDO:0003430 oboInOwl:hasExactSynonym "prolactin producing pituitary neoplasm" MONDO:0006947 oboInOwl:hasExactSynonym "renovascular hypertension" MONDO:0006947 oboInOwl:hasExactSynonym "renovascular hypertension (disease)" CL:0002306 oboInOwl:hasExactSynonym "kidney proximal tubule epithelial cell" +MONDO:0013986 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency type 14" +MONDO:0013986 oboInOwl:hasExactSynonym "COXPD14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013986 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency caused by mutation in FARS2" +MONDO:0013986 oboInOwl:hasExactSynonym "FARS2 combined oxidative phosphorylation deficiency" +MONDO:0012732 oboInOwl:hasExactSynonym "tremor, hereditary essential, and idiopathic normal pressure hydrocephalus" MONDO:0020502 oboInOwl:hasExactSynonym "Yellow Jack" MONDO:0020502 oboInOwl:hasExactSynonym "Yellow fever virus disease or disorder" MONDO:0020502 oboInOwl:hasExactSynonym "Yellow fever, sylvan" @@ -137230,14 +138585,9 @@ MONDO:0020502 oboInOwl:hasExactSynonym "bronze John" MONDO:0020502 oboInOwl:hasExactSynonym "Yellow fever virus infectious disease" MONDO:0020502 oboInOwl:hasExactSynonym "YF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020502 oboInOwl:hasExactSynonym "Yellow fever Virus infection" -MONDO:0020502 oboInOwl:hasExactSynonym "Yellow fever virus caused disease or disorder" MONDO:0020502 oboInOwl:hasExactSynonym "jungle yellow fever" +MONDO:0020502 oboInOwl:hasExactSynonym "Yellow fever virus caused disease or disorder" MONDO:0020502 oboInOwl:hasExactSynonym "sylvatic yellow fever" -MONDO:0013986 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency type 14" -MONDO:0013986 oboInOwl:hasExactSynonym "COXPD14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013986 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency caused by mutation in FARS2" -MONDO:0013986 oboInOwl:hasExactSynonym "FARS2 combined oxidative phosphorylation deficiency" -MONDO:0012732 oboInOwl:hasExactSynonym "tremor, hereditary essential, and idiopathic normal pressure hydrocephalus" MONDO:0021569 oboInOwl:hasExactSynonym "EDMD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0021569 oboInOwl:hasExactSynonym "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA" MONDO:0021569 oboInOwl:hasExactSynonym "proximal muscular dystrophy type 1B" @@ -137264,6 +138614,7 @@ MONDO:0007551 oboInOwl:hasExactSynonym "localized epidermolysis bullosa simplex" MONDO:0007551 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex of palms and soles" MONDO:0007551 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex, Weber-Cockayne type" MONDO:0007551 oboInOwl:hasExactSynonym "EBS-loc" +MONDO:0007551 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex 1C, localized" MONDO:0011839 oboInOwl:hasExactSynonym "NFRCD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011839 oboInOwl:hasExactSynonym "cone-rod dystrophy caused by mutation in RLBP1" MONDO:0011839 oboInOwl:hasExactSynonym "RLBP1 cone-rod dystrophy" @@ -137305,8 +138656,8 @@ MONDO:0001921 oboInOwl:hasExactSynonym "chronic atticoantral suppurative otitis GO:0010185 oboInOwl:hasExactSynonym "regulation of cellular defence response" MONDO:0009048 oboInOwl:hasExactSynonym "curved nail of fourth toe" MONDO:0030977 oboInOwl:hasExactSynonym "HMNMYO" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010145 oboInOwl:hasExactSynonym "tibia, absence of, with congenital deafness" MONDO:0054654 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency 32" +MONDO:0010145 oboInOwl:hasExactSynonym "tibia, absence of, with congenital deafness" CHEBI:25000 oboInOwl:hasExactSynonym "lactones" CHEBI:25000 oboInOwl:hasExactSynonym "lactone" MONDO:0020210 oboInOwl:hasExactSynonym "syndrome associated with hyperopia" @@ -137316,9 +138667,12 @@ MONDO:0014755 oboInOwl:hasExactSynonym "skin creases, congenital symmetric circu MONDO:0014755 oboInOwl:hasExactSynonym "CSCSC2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014755 oboInOwl:hasExactSynonym "MAPRE2 multiple benign circumferential skin creases on limbs" MONDO:0014755 oboInOwl:hasExactSynonym "multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2" +MONDO:0014755 oboInOwl:hasExactSynonym "symmetric circumferential skin creases, congenital, 2" MONDO:0014755 oboInOwl:hasExactSynonym "skin creases, congenital symmetric circumferential, type 2" MONDO:0004547 oboInOwl:hasExactSynonym "testicular yolk Sac tumor, reticular pattern" MONDO:0004547 oboInOwl:hasExactSynonym "testicular yolk Sac tumor, microcystic pattern" +MONDO:0024517 oboInOwl:hasExactSynonym "schwannomatosis, somatic" +MONDO:0024517 oboInOwl:hasExactSynonym "schwannomatosis-1, susceptibility to" MONDO:0024517 oboInOwl:hasExactSynonym "SWNTS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019082 oboInOwl:hasExactSynonym "bullous pemphigoid" GO:0042105 oboInOwl:hasExactSynonym "alpha-beta TCR complex" @@ -137338,33 +138692,36 @@ GO:0009260 oboInOwl:hasExactSynonym "ribonucleotide synthesis" MONDO:0018030 oboInOwl:hasExactSynonym "tetrasomy type 9p" MONDO:0018030 oboInOwl:hasExactSynonym "Isochromosome 9p" CHEBI:2571 oboInOwl:hasExactSynonym "Aliphatic alcohol" -MONDO:0005151 oboInOwl:hasExactSynonym "disease of endocrine system" -MONDO:0005151 oboInOwl:hasExactSynonym "thyroid or other glandular disorders" MONDO:0005151 oboInOwl:hasExactSynonym "endocrine system disease" -MONDO:0005151 oboInOwl:hasExactSynonym "endocrine system disorder" -MONDO:0005151 oboInOwl:hasExactSynonym "endocrine system disease or disorder" -MONDO:0005151 oboInOwl:hasExactSynonym "disorder of endocrine system" -MONDO:0005151 oboInOwl:hasExactSynonym "endocrine disorder" MONDO:0005151 oboInOwl:hasExactSynonym "disease or disorder of endocrine system" +MONDO:0005151 oboInOwl:hasExactSynonym "endocrine disorder" +MONDO:0005151 oboInOwl:hasExactSynonym "thyroid or other glandular disorders" +MONDO:0005151 oboInOwl:hasExactSynonym "disorder of endocrine system" MONDO:0005151 oboInOwl:hasExactSynonym "endocrinopathy" MONDO:0005151 oboInOwl:hasExactSynonym "endocrine disease" +MONDO:0005151 oboInOwl:hasExactSynonym "disease of endocrine system" +MONDO:0005151 oboInOwl:hasExactSynonym "endocrine system disease or disorder" +MONDO:0005151 oboInOwl:hasExactSynonym "endocrine system disorder" MONDO:0018557 oboInOwl:hasExactSynonym "rare genetic autonomic nervous system disease" MONDO:0037870 oboInOwl:hasExactSynonym "disorder of valine metabolism" MONDO:0037870 oboInOwl:hasExactSynonym "disorder of valine metabolic process" MONDO:0037870 oboInOwl:hasExactSynonym "valine metabolic process disease" +HP:0000741 oboInOwl:hasExactSynonym "Lack of feeling, emotion, interest" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0000138 oboInOwl:hasExactSynonym "metaphyseal chondrodysplasia" MONDO:0000138 oboInOwl:hasExactSynonym "metaphyseal chondrodysplasia (disease)" -HP:0000741 oboInOwl:hasExactSynonym "Lack of feeling, emotion, interest" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0008351 oboInOwl:hasExactSynonym "pupil, egg-shaped" MONDO:0017342 oboInOwl:hasExactSynonym "EBV-related tumor" MONDO:0002338 oboInOwl:hasExactSynonym "extratemporal epilepsy" MONDO:0012190 oboInOwl:hasExactSynonym "nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome" +MONDO:0012190 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex 7, with nephropathy and deafness" MONDO:0001251 oboInOwl:hasExactSynonym "periapical periodontitis, chronic" MONDO:0001251 oboInOwl:hasExactSynonym "chronic periapical periodontitis" GO:0050909 oboInOwl:hasExactSynonym "taste perception" GO:0050909 oboInOwl:hasExactSynonym "taste" GO:0050909 oboInOwl:hasExactSynonym "sense of taste" GO:0050909 oboInOwl:hasExactSynonym "gustation" +MONDO:0007154 oboInOwl:hasExactSynonym "arteriovenous malformation of the brain, somatic" +MONDO:0007154 oboInOwl:hasExactSynonym "intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation" MONDO:0007154 oboInOwl:hasExactSynonym "arteriovenous malformations of the brain" MONDO:0007154 oboInOwl:hasExactSynonym "intracranial arteriovenous malformation" MONDO:0007154 oboInOwl:hasExactSynonym "cerebral arteriovenous malformation" @@ -137393,9 +138750,13 @@ MONDO:0033482 oboInOwl:hasExactSynonym "spinocerebellar ataxia 47" MONDO:0016072 oboInOwl:hasExactSynonym "genetic anomaly of puberty or/and menstrual cycle" MONDO:0008679 oboInOwl:hasExactSynonym "Wilms tumor 1" MONDO:0008679 oboInOwl:hasExactSynonym "Wilms tumor type 1" +MONDO:0008679 oboInOwl:hasExactSynonym "Wilms tumor, autosomal dominant, somatic mutation" +MONDO:0008679 oboInOwl:hasExactSynonym "Wilms tumor, somatic" +MONDO:0008679 oboInOwl:hasExactSynonym "Wilms tumor, type 1, autosomal dominant, somatic mutation" MONDO:0018744 oboInOwl:hasExactSynonym "oligodendroglial tumor" MONDO:0018744 oboInOwl:hasExactSynonym "oligodendroglial neoplasm" MONDO:0054550 oboInOwl:hasExactSynonym "avascular necrosis of femoral head, primary, 1" +MONDO:0054550 oboInOwl:hasExactSynonym "avascular necrosis of the femoral head" MONDO:0009792 oboInOwl:hasExactSynonym "Clayton Smith-Donnai syndrome" MONDO:0014347 oboInOwl:hasExactSynonym "short stature with microcephaly and distinctive facies" MONDO:0013284 oboInOwl:hasExactSynonym "immunodeficiency, common variable, type 4" @@ -137441,8 +138802,10 @@ MONDO:0033365 oboInOwl:hasExactSynonym "DEE56" http://purl.obolibrary.org/obo/mo MONDO:0033365 oboInOwl:hasExactSynonym "infantile epileptic encephalopathy 56" MONDO:0033365 oboInOwl:hasExactSynonym "EIEE56" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033365 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 56" +MONDO:0033365 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 56" MONDO:0015575 oboInOwl:hasExactSynonym "rare bacterial infectious disease" MONDO:0010602 oboInOwl:hasExactSynonym "hereditary Factor VIII deficiency disease" +MONDO:0010602 oboInOwl:hasExactSynonym "hemophilia a, X-linked recessive" MONDO:0010602 oboInOwl:hasExactSynonym "hemophilia type a" MONDO:0010602 oboInOwl:hasExactSynonym "Subhemophilia" MONDO:0010602 oboInOwl:hasExactSynonym "hemophilia A" @@ -137451,7 +138814,10 @@ MONDO:0010602 oboInOwl:hasExactSynonym "congenital factor VIII disorder" MONDO:0010602 oboInOwl:hasExactSynonym "hemophilia type A" MONDO:0010602 oboInOwl:hasExactSynonym "hereditary Factor VIII deficiency" MONDO:0024498 oboInOwl:hasExactSynonym "glioma susceptibility 1" +MONDO:0024498 oboInOwl:hasExactSynonym "glioma, susceptibility to, somatic" MONDO:0024498 oboInOwl:hasExactSynonym "GLM1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0024498 oboInOwl:hasExactSynonym "glioblastoma, somatic" +MONDO:0024498 oboInOwl:hasExactSynonym "glioma susceptibility 1, autosomal dominant, somatic mutation" MONDO:0002183 oboInOwl:hasExactSynonym "disorder of enthesis" MONDO:0002183 oboInOwl:hasExactSynonym "enthesis disease" MONDO:0002183 oboInOwl:hasExactSynonym "enthesis disease or disorder" @@ -137469,8 +138835,8 @@ MONDO:0000871 oboInOwl:hasExactSynonym "T-cell pediatric acute lymphoblastic leu MONDO:0000871 oboInOwl:hasExactSynonym "childhood precursor T-lymphoblastic leukemia" MONDO:0000871 oboInOwl:hasExactSynonym "childhood T-ALL" MONDO:0000871 oboInOwl:hasExactSynonym "childhood T acute lymphoblastic leukemia" -MONDO:0007529 oboInOwl:hasExactSynonym "elastosis perforans serpiginosa" MONDO:0024381 oboInOwl:hasExactSynonym "jet lag" +MONDO:0007529 oboInOwl:hasExactSynonym "elastosis perforans serpiginosa" MONDO:0006201 oboInOwl:hasExactSynonym "adenoid cystic carcinoma of the ethmoid sinus" MONDO:0007412 oboInOwl:hasExactSynonym "Beare-Stevenson cutis gyrata syndrome" MONDO:0009718 oboInOwl:hasExactSynonym "myxedema" @@ -137479,9 +138845,9 @@ MONDO:0006611 oboInOwl:hasExactSynonym "sarcoidosis of zone of skin" MONDO:0006611 oboInOwl:hasExactSynonym "cutaneous sarcoidosis" MONDO:0006611 oboInOwl:hasExactSynonym "cutaneous sarcoid" MONDO:0006611 oboInOwl:hasExactSynonym "zone of skin sarcoidosis" -MONDO:0001923 oboInOwl:hasExactSynonym "vitreoretinal dystrophies" MONDO:0020307 oboInOwl:hasExactSynonym "Panayiotopoulos syndrome" MONDO:0020307 oboInOwl:hasExactSynonym "early-onset benign childhood occipital epilepsy" +MONDO:0001923 oboInOwl:hasExactSynonym "vitreoretinal dystrophies" MONDO:0008913 oboInOwl:hasExactSynonym "cardiac valvular defect, developmental" MONDO:0012576 oboInOwl:hasExactSynonym "PSNP3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012576 oboInOwl:hasExactSynonym "supranuclear palsy, progressive, 3" @@ -137515,6 +138881,7 @@ MONDO:0019154 oboInOwl:hasExactSynonym "Goldberg - Maxwell syndrome" MONDO:0019154 oboInOwl:hasExactSynonym "testicular feminization" MONDO:0019154 oboInOwl:hasExactSynonym "testicular feminization syndrome" MONDO:0019154 oboInOwl:hasExactSynonym "Goldberg-Maxwell syndrome" +MONDO:0019154 oboInOwl:hasExactSynonym "androgen insensitivity, X-linked recessive" MONDO:0019154 oboInOwl:hasExactSynonym "androgen resistance syndrome" MONDO:0019154 oboInOwl:hasExactSynonym "Morris syndrome" MONDO:0019154 oboInOwl:hasExactSynonym "androgen insensitivity syndrome" @@ -137526,6 +138893,7 @@ MONDO:0006195 oboInOwl:hasExactSynonym "polyp of endometrium" MONDO:0006195 oboInOwl:hasExactSynonym "endometrial stromal polyp" MONDO:0006195 oboInOwl:hasExactSynonym "endometrial polyp" MONDO:0010218 oboInOwl:hasExactSynonym "46,XX Sex reversal type 2" +MONDO:0010218 oboInOwl:hasExactSynonym "46XX sex reversal 2" MONDO:0010218 oboInOwl:hasExactSynonym "46,XX sex reversal 2" GO:0051186 oboInOwl:hasExactSynonym "cofactor metabolism" GO:1903551 oboInOwl:hasExactSynonym "regulation of extracellular vesicular exosome assembly" @@ -137575,6 +138943,7 @@ MONDO:0005012 oboInOwl:hasExactSynonym "cutaneous (skin) melanoma" MONDO:0008529 oboInOwl:hasExactSynonym "T-cell Subgroups, non-HLA-linked" MONDO:0009603 oboInOwl:hasExactSynonym "HIBCH deficiency" MONDO:0009603 oboInOwl:hasExactSynonym "neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency" +MONDO:0009603 oboInOwl:hasExactSynonym "3-hydroxyisobutryl-CoA hydrolase deficiency" MONDO:0009603 oboInOwl:hasExactSynonym "methacrylic aciduria" MONDO:0009603 oboInOwl:hasExactSynonym "3-hydroxyisobutyryl-CoA hydrolase deficiency" HP:0001558 oboInOwl:hasExactSynonym "Less than 10 foetal movements in 12 hours" http://purl.obolibrary.org/obo/hp.obo#uk_spelling @@ -137637,6 +139006,7 @@ HP:0000546 oboInOwl:hasExactSynonym "Retina degeneration" http://purl.obolibrary MONDO:0001056 oboInOwl:hasExactSynonym "malignant tumor of lesser curve of stomach" MONDO:0001056 oboInOwl:hasExactSynonym "gastric cancer" MONDO:0001056 oboInOwl:hasExactSynonym "malignant neoplasm of stomach" +MONDO:0001056 oboInOwl:hasExactSynonym "gastric cancer risk after h. pylori infection" MONDO:0001056 oboInOwl:hasExactSynonym "malignant neoplasm of lesser curve of stomach" MONDO:0001056 oboInOwl:hasExactSynonym "malignant gastric neoplasm" MONDO:0001056 oboInOwl:hasExactSynonym "Ca lesser curvature - stomach" @@ -137644,6 +139014,7 @@ MONDO:0001056 oboInOwl:hasExactSynonym "malignant stomach neoplasm" MONDO:0001056 oboInOwl:hasExactSynonym "malignant tumor of greater curve of stomach" MONDO:0001056 oboInOwl:hasExactSynonym "malignant tumor of body of stomach" MONDO:0001056 oboInOwl:hasExactSynonym "malignant tumor of the stomach" +MONDO:0001056 oboInOwl:hasExactSynonym "gastric cancer, somatic" MONDO:0001056 oboInOwl:hasExactSynonym "malignant neoplasm of the stomach" MONDO:0001056 oboInOwl:hasExactSynonym "malignant tumor of stomach" MONDO:0001056 oboInOwl:hasExactSynonym "cancer of stomach" @@ -137678,11 +139049,13 @@ MONDO:0004432 oboInOwl:hasExactSynonym "mature teratoma of the pericardium" MONDO:0004432 oboInOwl:hasExactSynonym "mature teratoma of pericardium" MONDO:0004432 oboInOwl:hasExactSynonym "mature pericardial teratoma" MONDO:0004432 oboInOwl:hasExactSynonym "pericardium mature teratoma" +MONDO:0012168 oboInOwl:hasExactSynonym "dyslexia, susceptibility to, 8, multifactorial" MONDO:0012168 oboInOwl:hasExactSynonym "DYX8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012168 oboInOwl:hasExactSynonym "dyslexia, susceptibility to, 8" MONDO:0054845 oboInOwl:hasExactSynonym "DEE66" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054845 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 66" MONDO:0054845 oboInOwl:hasExactSynonym "EIEE66" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0054845 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 66" MONDO:0003235 oboInOwl:hasExactSynonym "cranial nerve II glioma" MONDO:0003235 oboInOwl:hasExactSynonym "optic nerve glioma" MONDO:0003235 oboInOwl:hasExactSynonym "glioma of optic nerve" @@ -137695,6 +139068,7 @@ MONDO:0019941 oboInOwl:hasExactSynonym "neurogenic acroosteolysis" GO:0004888 oboInOwl:hasExactSynonym "transmembrane signalling receptor activity" MONDO:0011300 oboInOwl:hasExactSynonym "myopia 3, autosomal dominant" MONDO:0011300 oboInOwl:hasExactSynonym "MYP3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011300 oboInOwl:hasExactSynonym "myopia-3" MONDO:0013500 oboInOwl:hasExactSynonym "immunodeficiency 51" MONDO:0002497 oboInOwl:hasExactSynonym "allergy of food material" MONDO:0002497 oboInOwl:hasExactSynonym "food hypersensitivity" @@ -137725,6 +139099,7 @@ MONDO:0016970 oboInOwl:hasExactSynonym "partial trisomy of the long arm of chrom MONDO:0016970 oboInOwl:hasExactSynonym "partial trisomy of chromosome 20q" HP:0000826 oboInOwl:hasExactSynonym "Early onset of puberty" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0000826 oboInOwl:hasExactSynonym "Early puberty" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0010397 oboInOwl:hasExactSynonym "encephalopathy, neonatal severe, X-linked recessive" MONDO:0010397 oboInOwl:hasExactSynonym "severe congenital encephalopathy due to MECP2 mutation" MONDO:0010397 oboInOwl:hasExactSynonym "severe neonatal encephalopathy due to MECP2 mutations" MONDO:0009994 oboInOwl:hasExactSynonym "alveolar rhabdomyosarcoma (morphologic abnormality)" @@ -137733,7 +139108,9 @@ MONDO:0009994 oboInOwl:hasExactSynonym "rhabdomyosarcoma type 2" MONDO:0009994 oboInOwl:hasExactSynonym "alveolar childhood rhabdomyosarcoma" MONDO:0009994 oboInOwl:hasExactSynonym "monomorphous round cell rhabdomyosarcoma" MONDO:0009994 oboInOwl:hasExactSynonym "arms" +MONDO:0009994 oboInOwl:hasExactSynonym "rhabdomyosarcoma, alveolar, somatic mutation" MONDO:0009994 oboInOwl:hasExactSynonym "pediatric alveolar rhabdomyosarcoma" +MONDO:0009994 oboInOwl:hasExactSynonym "rhabdomyosarcoma 2, alveolar, somatic mutation" MONDO:0009994 oboInOwl:hasExactSynonym "alveolar rhabdomyosarcoma (disease)" MONDO:0002894 oboInOwl:hasExactSynonym "chordoma of spine" MONDO:0002894 oboInOwl:hasExactSynonym "spinal column chordoma" @@ -137860,6 +139237,7 @@ MONDO:0009426 oboInOwl:hasExactSynonym "hypoparathyroidism with short stature, m MONDO:0009426 oboInOwl:hasExactSynonym "hypoparathyroidism-retardation-dysmorphism syndrome" MONDO:0009426 oboInOwl:hasExactSynonym "hypoparathyroidism with short stature, intellectual disability and seizures" MONDO:0009426 oboInOwl:hasExactSynonym "HRD syndrome" +MONDO:0013089 oboInOwl:hasExactSynonym "schizophrenia, susceptibility to, 13" MONDO:0013089 oboInOwl:hasExactSynonym "schizophrenia 13" MONDO:0013089 oboInOwl:hasExactSynonym "SCZD13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014035 oboInOwl:hasExactSynonym "autosomal dominant intellectual disability 19" @@ -137868,6 +139246,7 @@ MONDO:0014035 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant t MONDO:0014035 oboInOwl:hasExactSynonym "MRD19" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014035 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant type 19" MONDO:0014035 oboInOwl:hasExactSynonym "autosomal dominant mental retardation 19" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0014035 oboInOwl:hasExactSynonym "neurodevelopmental disorder with spastic diplegia and visual defects" MONDO:0013891 oboInOwl:hasExactSynonym "ALS18" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013891 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis caused by mutation in PFN1" MONDO:0013891 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis 18" @@ -137877,8 +139256,8 @@ MONDO:0002718 oboInOwl:hasExactSynonym "teratoma of central nervous system" MONDO:0002718 oboInOwl:hasExactSynonym "teratoma of the central nervous system" MONDO:0002718 oboInOwl:hasExactSynonym "teratoma of the CNS" MONDO:0002718 oboInOwl:hasExactSynonym "CNS teratoma" -MONDO:0002718 oboInOwl:hasExactSynonym "central nervous system teratoma" MONDO:0002718 oboInOwl:hasExactSynonym "teratoma of CNS" +MONDO:0002718 oboInOwl:hasExactSynonym "central nervous system teratoma" MONDO:0017280 oboInOwl:hasExactSynonym "Demodicosis" MONDO:0017280 oboInOwl:hasExactSynonym "Demodex infectious disease" MONDO:0017280 oboInOwl:hasExactSynonym "Demodex caused disease or disorder" @@ -137889,6 +139268,7 @@ MONDO:0017147 oboInOwl:hasExactSynonym "primary pulmonary arterial hypertension" MONDO:0017147 oboInOwl:hasExactSynonym "IPAH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004925 oboInOwl:hasExactSynonym "dacryocystitis, chronic" MONDO:0007350 oboInOwl:hasExactSynonym "coloboma, ocular, autosomal dominant" +MONDO:0007350 oboInOwl:hasExactSynonym "coloboma, ocular" MONDO:0013276 oboInOwl:hasExactSynonym "Reynolds syndrome" MONDO:0013276 oboInOwl:hasExactSynonym "primary biliary cirrhosis and systemic scleroderma" MONDO:0011964 oboInOwl:hasExactSynonym "CDG syndrome type Ij" @@ -137999,14 +139379,14 @@ MONDO:0019388 oboInOwl:hasExactSynonym "urorectal septum malformation sequence" MONDO:0019388 oboInOwl:hasExactSynonym "Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome" MONDO:0019388 oboInOwl:hasExactSynonym "perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome" GO:0043462 oboInOwl:hasExactSynonym "regulation of adenosinetriphosphatase activity" -MONDO:0020501 oboInOwl:hasExactSynonym "Congo-Crimean hemorrhagic fever" +MONDO:0020501 oboInOwl:hasExactSynonym "Crimean-Congo haemorrhagic fever" MONDO:0020501 oboInOwl:hasExactSynonym "Congo hemorrhagic fever" -MONDO:0020501 oboInOwl:hasExactSynonym "Crimean hemorrhagic fever" +MONDO:0020501 oboInOwl:hasExactSynonym "CCHF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020501 oboInOwl:hasExactSynonym "Crimean hemorrhagic fever [CHF Congo virus]" +MONDO:0020501 oboInOwl:hasExactSynonym "Congo-Crimean hemorrhagic fever" MONDO:0020501 oboInOwl:hasExactSynonym "Congo fever" +MONDO:0020501 oboInOwl:hasExactSynonym "Crimean hemorrhagic fever" MONDO:0020501 oboInOwl:hasExactSynonym "CHF Congo virus" -MONDO:0020501 oboInOwl:hasExactSynonym "CCHF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020501 oboInOwl:hasExactSynonym "Crimean-Congo haemorrhagic fever" MONDO:0021568 oboInOwl:hasExactSynonym "renal tubular disorder" MONDO:0021568 oboInOwl:hasExactSynonym "disease of renal tubule" MONDO:0021568 oboInOwl:hasExactSynonym "renal tubule disease or disorder" @@ -138036,8 +139416,10 @@ PATO:0000025 oboInOwl:hasExactSynonym "content" PATO:0000025 oboInOwl:hasExactSynonym "compositionality" PATO:0000025 oboInOwl:hasExactSynonym "composed of" MONDO:0010341 oboInOwl:hasExactSynonym "AUTSX2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010341 oboInOwl:hasExactSynonym "autism susceptibility, X-linked 2, isolated cases, X-linked" MONDO:0010341 oboInOwl:hasExactSynonym "autism, susceptibility to, X-linked 2" MONDO:0010341 oboInOwl:hasExactSynonym "autism, susceptibility to, X-linked type 2" +MONDO:0010341 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked, Isolated cases, X-linked" HP:0000219 oboInOwl:hasExactSynonym "Decreased height of upper lip vermilion" HP:0000219 oboInOwl:hasExactSynonym "Decreased volume of upper lip vermilion" HP:0000219 oboInOwl:hasExactSynonym "Thin vermilion border of upper lip" @@ -138074,6 +139456,7 @@ MONDO:0012912 oboInOwl:hasExactSynonym "Albright Hereditary osteodystrophy with MONDO:0011086 oboInOwl:hasExactSynonym "severe combined immunodeficiency due to complete RAG1-2 deficiency" MONDO:0011086 oboInOwl:hasExactSynonym "SCID due to complete RAG1-2 deficiency" MONDO:0011086 oboInOwl:hasExactSynonym "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive" +MONDO:0011086 oboInOwl:hasExactSynonym "severe combined immunodeficiency, B cell-negative" MONDO:0011086 oboInOwl:hasExactSynonym "SCID due to complete RAG1/2 deficiency" MONDO:0016207 oboInOwl:hasExactSynonym "Phacoallergic endophthalmitis" MONDO:0016207 oboInOwl:hasExactSynonym "Phacoantigenic endophthalmitis" @@ -138118,12 +139501,14 @@ MONDO:0007707 oboInOwl:hasExactSynonym "hemangiomas of small intestine" MONDO:0007707 oboInOwl:hasExactSynonym "small intestine hemangioma" MONDO:0007707 oboInOwl:hasExactSynonym "hemangioma of small intestine" MONDO:0009634 oboInOwl:hasExactSynonym "microtia with meatal atresia and conductive deafness" +MONDO:0044281 oboInOwl:hasExactSynonym "C3HEX, ability to smell" GO:0002580 oboInOwl:hasExactSynonym "regulation of peptide or polysaccharide antigen processing and presentation via MHC class II" MONDO:0003594 oboInOwl:hasExactSynonym "mixed liposarcoma" MONDO:0003594 oboInOwl:hasExactSynonym "mixed liposarcoma (morphologic abnormality)" MONDO:0013102 oboInOwl:hasExactSynonym "basal cell carcinoma, susceptibility to, 3" MONDO:0013102 oboInOwl:hasExactSynonym "BCC3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014660 oboInOwl:hasExactSynonym "microcephaly 15, primary, autosomal recessive" +MONDO:0014660 oboInOwl:hasExactSynonym "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities" CHEBI:33461 oboInOwl:hasExactSynonym "phosphorus oxoanion" MONDO:0002489 oboInOwl:hasExactSynonym "malignant cystosarcoma phyllodes of breast" MONDO:0002489 oboInOwl:hasExactSynonym "malignant breast phyllodes tumor" @@ -138140,14 +139525,14 @@ MONDO:0002489 oboInOwl:hasExactSynonym "phyllodes breast tumor" MONDO:0002489 oboInOwl:hasExactSynonym "malignant phyllodes tumor of breast" MONDO:0002489 oboInOwl:hasExactSynonym "malignant mammary phyllodes neoplasm" MONDO:0002489 oboInOwl:hasExactSynonym "malignant phyllodes tumor of the breast" -MONDO:0021074 oboInOwl:hasExactSynonym "premalignant condition" -MONDO:0021074 oboInOwl:hasExactSynonym "premalignant state" -MONDO:0021074 oboInOwl:hasExactSynonym "precancerous state" -MONDO:0021074 oboInOwl:hasExactSynonym "precancerous condition" GO:0009124 oboInOwl:hasExactSynonym "nucleoside monophosphate synthesis" GO:0009124 oboInOwl:hasExactSynonym "nucleoside monophosphate formation" GO:0009124 oboInOwl:hasExactSynonym "nucleoside monophosphate biosynthesis" GO:0009124 oboInOwl:hasExactSynonym "nucleoside monophosphate anabolism" +MONDO:0021074 oboInOwl:hasExactSynonym "premalignant condition" +MONDO:0021074 oboInOwl:hasExactSynonym "premalignant state" +MONDO:0021074 oboInOwl:hasExactSynonym "precancerous state" +MONDO:0021074 oboInOwl:hasExactSynonym "precancerous condition" HP:0000952 oboInOwl:hasExactSynonym "Yellowing of the skin" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0000952 oboInOwl:hasExactSynonym "Yellow skin" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0000952 oboInOwl:hasExactSynonym "Jaundice" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -138203,6 +139588,8 @@ MONDO:0011144 oboInOwl:hasExactSynonym "ceroid lipofuscinosis, neuronal, type 6" MONDO:0011144 oboInOwl:hasExactSynonym "late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6" MONDO:0008187 oboInOwl:hasExactSynonym "panic disorder 1" MONDO:0008187 oboInOwl:hasExactSynonym "PAND1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008187 oboInOwl:hasExactSynonym "panic disorder syndrome 1" +MONDO:0008187 oboInOwl:hasExactSynonym "panic disorder, susceptibility to" MONDO:0016940 oboInOwl:hasExactSynonym "partial duplication of the short arm of chromosome type 3" MONDO:0016940 oboInOwl:hasExactSynonym "partial duplication of chromosome 3p" MONDO:0016940 oboInOwl:hasExactSynonym "partial trisomy of the short arm of chromosome 3" @@ -138275,9 +139662,10 @@ MONDO:0010601 oboInOwl:hasExactSynonym "hereditary gynecomastia" CL:0000696 oboInOwl:hasExactSynonym "type F enteroendocrine cell" MONDO:0008467 oboInOwl:hasExactSynonym "split hand-urinary anomalies-spina bifida syndrome" MONDO:0008467 oboInOwl:hasExactSynonym "split hand with obstructive uropathy, spina bifida and diaphragmatic defects" +MONDO:0030314 oboInOwl:hasExactSynonym "IBD31" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030314 oboInOwl:hasExactSynonym "inflammatory bowel disease, early-onset, autosomal recessive" +MONDO:0030314 oboInOwl:hasExactSynonym "inflammatory bowel disease (infantile ulcerative colitis) 31" MONDO:0030314 oboInOwl:hasExactSynonym "inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive" -MONDO:0030314 oboInOwl:hasExactSynonym "IBD31" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0006423 oboInOwl:hasExactSynonym "extraskeletal osteochondroma" MONDO:0006423 oboInOwl:hasExactSynonym "chondroma of soft parts" MONDO:0006423 oboInOwl:hasExactSynonym "extraskeletal chondroma" @@ -138290,23 +139678,26 @@ MONDO:0014591 oboInOwl:hasExactSynonym "DVL1 autosomal dominant Robinow syndrome MONDO:0014591 oboInOwl:hasExactSynonym "autosomal dominant Robinow syndrome caused by mutation in DVL1" MONDO:0014591 oboInOwl:hasExactSynonym "DRS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014591 oboInOwl:hasExactSynonym "Robinow syndrome, autosomal dominant type 2" +MONDO:0010951 oboInOwl:hasExactSynonym "cardiomyopathy, dilated 1B" MONDO:0010951 oboInOwl:hasExactSynonym "dilated cardiomyopathy type 1B" GO:0033043 oboInOwl:hasExactSynonym "regulation of organelle organisation" MONDO:0032751 oboInOwl:hasExactSynonym "distal arthrogryposis type 2B3 (Sheldon-Hall)" MONDO:0032751 oboInOwl:hasExactSynonym "arthrogryposis, distal, type 2B3" MONDO:0032751 oboInOwl:hasExactSynonym "DA2B3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032751 oboInOwl:hasExactSynonym "arthrogryposis, distal, type 2B3 (Sheldon-Hall)" MONDO:0019083 oboInOwl:hasExactSynonym "Leigh disease with myopathy" MONDO:0019083 oboInOwl:hasExactSynonym "cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency" MONDO:0019083 oboInOwl:hasExactSynonym "cardiomyopathy with myopathy due to COX deficiency" MONDO:0033619 oboInOwl:hasExactSynonym "MEPCA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016574 oboInOwl:hasExactSynonym "Westerhof-Beemer-Cormane syndrome" MONDO:0001922 oboInOwl:hasExactSynonym "ureter abscess" +MONDO:0045042 oboInOwl:hasExactSynonym "localized" MONDO:0015469 oboInOwl:hasExactSynonym "premature closure of cranial sutures" MONDO:0015469 oboInOwl:hasExactSynonym "craniosynostosis syndrome" -MONDO:0045042 oboInOwl:hasExactSynonym "localized" MONDO:0009049 oboInOwl:hasExactSynonym "primary bilateral macronodular adrenal hyperplasia" MONDO:0005509 oboInOwl:hasExactSynonym "histiocytoma" MONDO:0007709 oboInOwl:hasExactSynonym "hematuria, benign familial" +MONDO:0007709 oboInOwl:hasExactSynonym "hematuria, familial benign" MONDO:0020211 oboInOwl:hasExactSynonym "syndromic keratoconus (disease)" MONDO:0020211 oboInOwl:hasExactSynonym "syndrome associated with keratoconus (disease)" MONDO:0016761 oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia" @@ -138318,6 +139709,7 @@ GO:1903302 oboInOwl:hasExactSynonym "regulation of phosphoenolpyruvate kinase ac GO:1903302 oboInOwl:hasExactSynonym "regulation of phosphoenol transphosphorylase activity" GO:1903302 oboInOwl:hasExactSynonym "regulation of ATP:pyruvate 2-O-phosphotransferase activity" MONDO:0013883 oboInOwl:hasExactSynonym "CMS13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013883 oboInOwl:hasExactSynonym "myasthenic syndrome, congenital, 13, with tubular aggregates" MONDO:0013883 oboInOwl:hasExactSynonym "congenital myasthenic syndrome with tubular aggregates 2" MONDO:0013883 oboInOwl:hasExactSynonym "congenital myasthenic syndrome 13 with tubular aggregates" MONDO:0013883 oboInOwl:hasExactSynonym "myasthenic syndrome, congenital, type 13" @@ -138347,18 +139739,21 @@ MONDO:0011587 oboInOwl:hasExactSynonym "cataract 25" MONDO:0011587 oboInOwl:hasExactSynonym "central saccular cataract with sutural opacities" MONDO:0011587 oboInOwl:hasExactSynonym "CTRCT25" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011587 oboInOwl:hasExactSynonym "central pouch-like cataract with sutural opacities" +MONDO:0010367 oboInOwl:hasExactSynonym "short stature, idiopathic familial" MONDO:0100231 oboInOwl:hasExactSynonym "psoriatic arthritis, susceptibility to, 1" +MONDO:0100231 oboInOwl:hasExactSynonym "psoriatic arthritis, susceptibility to" MONDO:0100231 oboInOwl:hasExactSynonym "psoriatic arthritis susceptibility caused by LTA" MONDO:0020432 oboInOwl:hasExactSynonym "dilatation of the right atrial auricle" MONDO:0020432 oboInOwl:hasExactSynonym "ectasia of the right atrial auricle" MONDO:0020432 oboInOwl:hasExactSynonym "dilatation of the right atrial appendage" MONDO:0033366 oboInOwl:hasExactSynonym "EIEE57" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0033366 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 57" MONDO:0033366 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 57" MONDO:0033366 oboInOwl:hasExactSynonym "infantile epileptic encephalopathy 57" MONDO:0033366 oboInOwl:hasExactSynonym "DEE57" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0037871 oboInOwl:hasExactSynonym "cellular amino acid metabolic process disease" -MONDO:0037871 oboInOwl:hasExactSynonym "disorder of cellular amino acid metabolic process" MONDO:0037871 oboInOwl:hasExactSynonym "disorder of amino acid metabolism" +MONDO:0037871 oboInOwl:hasExactSynonym "disorder of cellular amino acid metabolic process" MONDO:0037871 oboInOwl:hasExactSynonym "amino acid metabolism disorder" MONDO:0008352 oboInOwl:hasExactSynonym "pupillary membrane, persistence of" MONDO:0017343 oboInOwl:hasExactSynonym "EBV-associated lymphoproliferative disorder" @@ -138366,8 +139761,8 @@ MONDO:0005938 oboInOwl:hasExactSynonym "tuberculosis of kidney" MONDO:0005938 oboInOwl:hasExactSynonym "kidney tuberculosis" MONDO:0012191 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency type 1" MONDO:0012191 oboInOwl:hasExactSynonym "Hepatoencephalopathy due to COXPD1" -MONDO:0012191 oboInOwl:hasExactSynonym "GFM1 combined oxidative phosphorylation deficiency" MONDO:0012191 oboInOwl:hasExactSynonym "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" +MONDO:0012191 oboInOwl:hasExactSynonym "GFM1 combined oxidative phosphorylation deficiency" MONDO:0012191 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency caused by mutation in GFM1" MONDO:0001252 oboInOwl:hasExactSynonym "Toxic goiter" MONDO:0001252 oboInOwl:hasExactSynonym "toxic nodular goiter" @@ -138423,6 +139818,7 @@ MONDO:0009793 oboInOwl:hasExactSynonym "OFD3" http://purl.obolibrary.org/obo/mon MONDO:0009793 oboInOwl:hasExactSynonym "orofaciodigital syndrome III" MONDO:0009793 oboInOwl:hasExactSynonym "Sugarman syndrome" MONDO:0014348 oboInOwl:hasExactSynonym "autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1" +MONDO:0014348 oboInOwl:hasExactSynonym "neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities" MONDO:0014348 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 42" MONDO:0014348 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 42" MONDO:0014348 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 42" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -138452,13 +139848,14 @@ MONDO:0013128 oboInOwl:hasExactSynonym "REN-associated kidney disease" MONDO:0013128 oboInOwl:hasExactSynonym "REN-associated familial juvenile hyperuricemic nephropathy" MONDO:0013128 oboInOwl:hasExactSynonym "autosomal dominant tubulointerstitial kidney disease due to mutations in REN" MONDO:0013128 oboInOwl:hasExactSynonym "REN-associated FJHN" +MONDO:0013128 oboInOwl:hasExactSynonym "tubulointerstitial kidney disease, autosomal dominant, 4" MONDO:0010603 oboInOwl:hasExactSynonym "hemophilia A with vascular abnormality" MONDO:0016763 oboInOwl:hasExactSynonym "spondylometaphyseal dysplasia" MONDO:0019332 oboInOwl:hasExactSynonym "Buschke-Fischer-Brauer syndrome" MONDO:0019332 oboInOwl:hasExactSynonym "PPKP1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019332 oboInOwl:hasExactSynonym "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" -MONDO:0008727 oboInOwl:hasExactSynonym "3-beta HSD deficiency" MONDO:0008727 oboInOwl:hasExactSynonym "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency" +MONDO:0008727 oboInOwl:hasExactSynonym "3-beta HSD deficiency" MONDO:0024499 oboInOwl:hasExactSynonym "osseous vascular tumor" MONDO:0024499 oboInOwl:hasExactSynonym "vascular tumor of the bone" MONDO:0024499 oboInOwl:hasExactSynonym "bone vascular neoplasm" @@ -138533,11 +139930,13 @@ MONDO:0014756 oboInOwl:hasExactSynonym "TENM4 essential tremor" MONDO:0014756 oboInOwl:hasExactSynonym "ETM5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014756 oboInOwl:hasExactSynonym "tremor, hereditary essential, 5; ETM5" MONDO:0014756 oboInOwl:hasExactSynonym "tremor, hereditary essential, 5" +MONDO:0014756 oboInOwl:hasExactSynonym "essential tremor, hereditary, 5" MONDO:0014756 oboInOwl:hasExactSynonym "essential tremor caused by mutation in TENM4" MONDO:0008131 oboInOwl:hasExactSynonym "optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant" MONDO:0015634 oboInOwl:hasExactSynonym "isolated osteopoikilosis (disease)" MONDO:0015634 oboInOwl:hasExactSynonym "nonsyndromic osteopoikilosis (disease)" MONDO:0010406 oboInOwl:hasExactSynonym "chromosome Xp11.22 duplication syndrome" +MONDO:0010406 oboInOwl:hasExactSynonym "Xp11.22 microduplication syndrome" NCBITaxon:129726 oboInOwl:hasExactSynonym "Pseudocowpoxvirus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name HP:0000274 oboInOwl:hasExactSynonym "Facial hypoplasia" HP:0000274 oboInOwl:hasExactSynonym "Short and narrow face" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -138548,6 +139947,7 @@ HP:0000274 oboInOwl:hasExactSynonym "Hypoplasia of face" HP:0000274 oboInOwl:hasExactSynonym "Small face" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0013181 oboInOwl:hasExactSynonym "amelogenesis imperfecta hypomaturation type IIA3" MONDO:0013181 oboInOwl:hasExactSynonym "amelogenesis imperfecta hypomaturation type 2A3" +MONDO:0013181 oboInOwl:hasExactSynonym "amelogenesis imperfecta, type IIA3" MONDO:0013181 oboInOwl:hasExactSynonym "amelogenesis imperfecta caused by mutation in WDR72" MONDO:0013181 oboInOwl:hasExactSynonym "WDR72 amelogenesis imperfecta" MONDO:0013181 oboInOwl:hasExactSynonym "AI2A3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -138572,6 +139972,7 @@ MONDO:0015164 oboInOwl:hasExactSynonym "AML and myelodysplastic syndromes relate MONDO:0012286 oboInOwl:hasExactSynonym "myopathy, autophagic vacuolar, infantile-onset" MONDO:0009572 oboInOwl:hasExactSynonym "autosomal recessive familial Mediterranean fever" MONDO:0009572 oboInOwl:hasExactSynonym "familial Mediterranean fever, autosomal recessive" +MONDO:0009572 oboInOwl:hasExactSynonym "familial Mediterranean fever, AR" GO:1903552 oboInOwl:hasExactSynonym "down regulation of extracellular vesicular exosome assembly" GO:1903552 oboInOwl:hasExactSynonym "negative regulation of extracellular vesicular exosome assembly" GO:1903552 oboInOwl:hasExactSynonym "downregulation of extracellular vesicular exosome assembly" @@ -138704,6 +140105,7 @@ MONDO:0010398 oboInOwl:hasExactSynonym "UPF3B X-linked syndromic intellectual di MONDO:0010398 oboInOwl:hasExactSynonym "syndromic X-linked intellectual disability type 14" MONDO:0010398 oboInOwl:hasExactSynonym "syndromic X-linked intellectual disability 14" MONDO:0010398 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic 14" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010398 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked syndromic 14, X-linked recessive" MONDO:0010398 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndromic 14" MONDO:0010398 oboInOwl:hasExactSynonym "X-linked syndromic intellectual disability caused by mutation in UPF3B" MONDO:0020463 oboInOwl:hasExactSynonym "nonsyndromic congenital ectropion" @@ -138716,6 +140118,7 @@ MONDO:0021505 oboInOwl:hasExactSynonym "benign tumor of the endocardium" MONDO:0005538 oboInOwl:hasExactSynonym "rectitis" MONDO:0005538 oboInOwl:hasExactSynonym "inflammation of anus" MONDO:0005538 oboInOwl:hasExactSynonym "anus inflammation" +MONDO:0011301 oboInOwl:hasExactSynonym "pseudohypoparathyroidism Ib" MONDO:0006612 oboInOwl:hasExactSynonym "steroid lipomatosis" MONDO:0013501 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis caused by mutation in VCP" MONDO:0013501 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis, with or without frontotemporal dementia" @@ -138857,12 +140260,12 @@ MONDO:0003908 oboInOwl:hasExactSynonym "meningioma of clivus" MONDO:0003908 oboInOwl:hasExactSynonym "meningioma of the clivus" MONDO:0003908 oboInOwl:hasExactSynonym "clivus of occipital bone meningioma (disease)" MONDO:0019534 oboInOwl:hasExactSynonym "mixed AIHA" +MONDO:0012451 oboInOwl:hasExactSynonym "esophagitis, eosinophilic, 1" +MONDO:0012451 oboInOwl:hasExactSynonym "EOE1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0006228 oboInOwl:hasExactSynonym "gastric papillary adenocarcinoma" MONDO:0006228 oboInOwl:hasExactSynonym "papillary adenocarcinoma of stomach" MONDO:0006228 oboInOwl:hasExactSynonym "stomach papillary adenocarcinoma" MONDO:0006228 oboInOwl:hasExactSynonym "papillary adenocarcinoma of the stomach" -MONDO:0012451 oboInOwl:hasExactSynonym "esophagitis, eosinophilic, 1" -MONDO:0012451 oboInOwl:hasExactSynonym "EOE1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0045012 oboInOwl:hasExactSynonym "steroid metabolic process disease" MONDO:0045012 oboInOwl:hasExactSynonym "disorder of steroid metabolic process" MONDO:0045012 oboInOwl:hasExactSynonym "disorder of steroid metabolism" @@ -138899,6 +140302,7 @@ GO:1900544 oboInOwl:hasExactSynonym "positive regulation of purine nucleotide me GO:1900544 oboInOwl:hasExactSynonym "up regulation of purine nucleotide metabolism" MONDO:0005469 oboInOwl:hasExactSynonym "orthostatic hypotension (disease)" MONDO:0005469 oboInOwl:hasExactSynonym "orthostatic hypotension" +MONDO:0013892 oboInOwl:hasExactSynonym "nephropathy due to CFHR5 deficiency" MONDO:0013892 oboInOwl:hasExactSynonym "complement-mediated membranoproliferative glomerulonephritis" MONDO:0007669 oboInOwl:hasExactSynonym "maturity onset diabetes of the Young, type 5" MONDO:0007669 oboInOwl:hasExactSynonym "renal dysfunction-early-onset diabetes syndrome" @@ -138976,6 +140380,7 @@ MONDO:0014036 oboInOwl:hasExactSynonym "Alzheimer's disease 17" MONDO:0014036 oboInOwl:hasExactSynonym "Alzheimer disease 17, late onset" MONDO:0014036 oboInOwl:hasExactSynonym "Alzheimer's disease type 17" MONDO:0014036 oboInOwl:hasExactSynonym "AD17" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010563 oboInOwl:hasExactSynonym "blue cone monochromacy, X-linked recessive" MONDO:0010563 oboInOwl:hasExactSynonym "color blindness, blue monocone monochromatic type" MONDO:0010563 oboInOwl:hasExactSynonym "S cone monochromacy" MONDO:0010563 oboInOwl:hasExactSynonym "blue cone monochromatism" @@ -138983,14 +140388,15 @@ MONDO:0010563 oboInOwl:hasExactSynonym "blue cone monochromacy" MONDO:0010563 oboInOwl:hasExactSynonym "atypical X-linked achromatopsia" MONDO:0010563 oboInOwl:hasExactSynonym "X-linked incomplete achromatopsia" MONDO:0010563 oboInOwl:hasExactSynonym "S cone monochromatism" +MONDO:0010408 oboInOwl:hasExactSynonym "STAR syndrome, X-linked dominant" MONDO:0010408 oboInOwl:hasExactSynonym "STAR syndrome" MONDO:0010408 oboInOwl:hasExactSynonym "syndactyly-telecanthus-anogenital and renal malformations syndrome" MONDO:0054560 oboInOwl:hasExactSynonym "anauxetic dysplasia 1" MONDO:0018261 oboInOwl:hasExactSynonym "Nevus epidermicus verrucosus with angiodysplasia and aneurysms" MONDO:0016019 oboInOwl:hasExactSynonym "CFE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016019 oboInOwl:hasExactSynonym "Rasmussen syndrome" -MONDO:0016019 oboInOwl:hasExactSynonym "Rasmussen encephalitis" MONDO:0016019 oboInOwl:hasExactSynonym "chronic focal encephalitis" +MONDO:0016019 oboInOwl:hasExactSynonym "Rasmussen encephalitis" MONDO:0009785 oboInOwl:hasExactSynonym "opsismodysplasia" MONDO:0007351 oboInOwl:hasExactSynonym "coloboma of macula" CHEBI:33767 oboInOwl:hasExactSynonym "cobalt group molecular entity" @@ -139011,6 +140417,7 @@ MONDO:0010093 oboInOwl:hasExactSynonym "syndesmodysplasic dwarfism" MONDO:0021660 oboInOwl:hasExactSynonym "disseminated granulomatous dermatophytosis" MONDO:0021660 oboInOwl:hasExactSynonym "deep seated dermatophytosis" MONDO:0021660 oboInOwl:hasExactSynonym "deep dermatophytosis" +MONDO:0012911 oboInOwl:hasExactSynonym "pseudohypoparathyroidism Ic" GO:0045923 oboInOwl:hasExactSynonym "positive regulation of fatty acid metabolism" GO:0045923 oboInOwl:hasExactSynonym "up-regulation of fatty acid metabolic process" GO:0045923 oboInOwl:hasExactSynonym "up regulation of fatty acid metabolic process" @@ -139026,6 +140433,7 @@ MONDO:0008383 oboInOwl:hasExactSynonym "rheumatoid arthritis" MONDO:0008383 oboInOwl:hasExactSynonym "autoimmune arthritis" MONDO:0008383 oboInOwl:hasExactSynonym "arthritis or polyarthritis, rheumatic" MONDO:0008383 oboInOwl:hasExactSynonym "arthritis, rheumatoid" +MONDO:0008383 oboInOwl:hasExactSynonym "rheumatoid arthritis, progression of" MONDO:0008383 oboInOwl:hasExactSynonym "atrophic arthritis" GO:0033013 oboInOwl:hasExactSynonym "tetrapyrrole metabolism" MONDO:0008719 oboInOwl:hasExactSynonym "autosomal recessive acrorenal syndrome" @@ -139067,6 +140475,7 @@ GO:0045806 oboInOwl:hasExactSynonym "downregulation of endocytosis" GO:0045806 oboInOwl:hasExactSynonym "down regulation of endocytosis" MONDO:0007858 oboInOwl:hasExactSynonym "punctate palmoplantar keratoderma caused by mutation in AAGAB" MONDO:0007858 oboInOwl:hasExactSynonym "palmoplantar keratoderma, punctate type 1A" +MONDO:0007858 oboInOwl:hasExactSynonym "keratoderma, palmoplantar, punctate type IA" MONDO:0007858 oboInOwl:hasExactSynonym "AAGAB punctate palmoplantar keratoderma" MONDO:0007060 oboInOwl:hasExactSynonym "spermatogenic failure type 6" MONDO:0007060 oboInOwl:hasExactSynonym "azoospermia caused by mutation in SPATA16" @@ -139229,20 +140638,24 @@ MONDO:0004792 oboInOwl:hasExactSynonym "malignant neoplasm of isthmus of fallopi MONDO:0004792 oboInOwl:hasExactSynonym "cancer of isthmus of fallopian tube" MONDO:0004792 oboInOwl:hasExactSynonym "malignant isthmus of fallopian tube neoplasm" MONDO:0004792 oboInOwl:hasExactSynonym "isthmus of fallopian tube cancer" +MONDO:0044282 oboInOwl:hasExactSynonym "blood group, Vel system" CL:0002425 oboInOwl:hasExactSynonym "preT.ETP.Th" CL:0002425 oboInOwl:hasExactSynonym "ETP" MONDO:0042970 oboInOwl:hasExactSynonym "deficiency of glutamate decarboxylase" MONDO:0042970 oboInOwl:hasExactSynonym "disorder of glutamate decarboxylase activity" MONDO:0042970 oboInOwl:hasExactSynonym "glutamate decarboxylase activity disease" +MONDO:0013103 oboInOwl:hasExactSynonym "epilepsy, juvenile myoclonic, susceptibility to" MONDO:0013103 oboInOwl:hasExactSynonym "susceptibility to idiopathic generalized epilepsy 10" MONDO:0013103 oboInOwl:hasExactSynonym "EIG10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013103 oboInOwl:hasExactSynonym "epilepsy, idiopathic generalized, susceptibility to, 10" MONDO:0013103 oboInOwl:hasExactSynonym "epilepsy, idiopathic generalized, susceptibility to, type 10" +MONDO:0013103 oboInOwl:hasExactSynonym "epilepsy, idiopathic generalized, 10" MONDO:0012547 oboInOwl:hasExactSynonym "Noonan syndrome type 4" MONDO:0012547 oboInOwl:hasExactSynonym "Noonan syndrome caused by mutation in SOS1" MONDO:0012547 oboInOwl:hasExactSynonym "NS4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012547 oboInOwl:hasExactSynonym "SOS1 Noonan syndrome" MONDO:0012547 oboInOwl:hasExactSynonym "Noonan syndrome 4" +MONDO:0014661 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive" MONDO:0014661 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex with nail dystrophy" HP:0100299 oboInOwl:hasExactSynonym "Muscle fibre inclusion bodies" http://purl.obolibrary.org/obo/hp.obo#uk_spelling MONDO:0016828 oboInOwl:hasExactSynonym "ARSA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -139274,11 +140687,6 @@ MONDO:0000380 oboInOwl:hasExactSynonym "carcinoma of the paranasal sinus" MONDO:0000380 oboInOwl:hasExactSynonym "accessory sinus cancer" MONDO:0000380 oboInOwl:hasExactSynonym "malignant paranasal sinus neoplasm" MONDO:0000380 oboInOwl:hasExactSynonym "carcinoma of paranasal sinus" -MONDO:0014728 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency caused by mutation in CARS2" -MONDO:0014728 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency 27" -MONDO:0014728 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency type 27" -MONDO:0014728 oboInOwl:hasExactSynonym "COXPD27" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014728 oboInOwl:hasExactSynonym "CARS2 combined oxidative phosphorylation deficiency" MONDO:0005866 oboInOwl:hasExactSynonym "Mycobacterium avium Complex" MONDO:0005866 oboInOwl:hasExactSynonym "Mycobacterium avium complex disease or disorder" MONDO:0005866 oboInOwl:hasExactSynonym "Mycobacterium avium complex caused disease or disorder" @@ -139286,6 +140694,11 @@ MONDO:0005866 oboInOwl:hasExactSynonym "Mycobacterium avium complex infectious d MONDO:0005866 oboInOwl:hasExactSynonym "Mycobacterium avium infection" MONDO:0005866 oboInOwl:hasExactSynonym "infection due to Mycobacterium intracellulare" MONDO:0005866 oboInOwl:hasExactSynonym "MAC disease" +MONDO:0014728 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency caused by mutation in CARS2" +MONDO:0014728 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency 27" +MONDO:0014728 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency type 27" +MONDO:0014728 oboInOwl:hasExactSynonym "COXPD27" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014728 oboInOwl:hasExactSynonym "CARS2 combined oxidative phosphorylation deficiency" MONDO:0003432 oboInOwl:hasExactSynonym "squint" MONDO:0003432 oboInOwl:hasExactSynonym "strabismus" CL:0002308 oboInOwl:hasExactSynonym "epithelial cell of gland of skin" @@ -139347,8 +140760,9 @@ MONDO:0006541 oboInOwl:hasExactSynonym "acantholysis bullosa" MONDO:0019218 oboInOwl:hasExactSynonym "inborn error of bile acid biosynthetic process" MONDO:0019218 oboInOwl:hasExactSynonym "rare inborn error of bile acid biosynthetic process" MONDO:0019218 oboInOwl:hasExactSynonym "inborn bile acid biosynthetic process disorder" -MONDO:0013190 oboInOwl:hasExactSynonym "factor XIII, b subunit, deficiency of" MONDO:0040797 oboInOwl:hasExactSynonym "vascular headache" +MONDO:0013190 oboInOwl:hasExactSynonym "factor XIIIB deficiency" +MONDO:0013190 oboInOwl:hasExactSynonym "factor XIII, b subunit, deficiency of" HP:0002514 oboInOwl:hasExactSynonym "Brain calcification" HP:0002514 oboInOwl:hasExactSynonym "Intracranial calcifications" HP:0002514 oboInOwl:hasExactSynonym "Intracranial calcification" @@ -139363,7 +140777,6 @@ MONDO:0015134 oboInOwl:hasExactSynonym "infantile genetic agranulocytosis" MONDO:0015134 oboInOwl:hasExactSynonym "Kostmann disease" MONDO:0015134 oboInOwl:hasExactSynonym "genetic infantile agranulocytosis" MONDO:0015134 oboInOwl:hasExactSynonym "congenital neutropenia" -MONDO:0011041 oboInOwl:hasExactSynonym "ectodermal dysplasia with natal teeth, Turnpenny type" MONDO:0006424 oboInOwl:hasExactSynonym "tumor of soft tissue" MONDO:0006424 oboInOwl:hasExactSynonym "soft tissue neoplasm" MONDO:0006424 oboInOwl:hasExactSynonym "neoplasm of soft tissue" @@ -139371,6 +140784,7 @@ MONDO:0006424 oboInOwl:hasExactSynonym "soft tissue tumors" MONDO:0006424 oboInOwl:hasExactSynonym "tumor of the soft tissue" MONDO:0006424 oboInOwl:hasExactSynonym "neoplasm of the soft tissue" MONDO:0006424 oboInOwl:hasExactSynonym "soft tissue tumor" +MONDO:0011041 oboInOwl:hasExactSynonym "ectodermal dysplasia with natal teeth, Turnpenny type" MONDO:0007982 oboInOwl:hasExactSynonym "metaphyseal chondrodysplasia, Jansen type" MONDO:0007982 oboInOwl:hasExactSynonym "Jansen metaphyseal dysostosis" MONDO:0007982 oboInOwl:hasExactSynonym "Jansen disease" @@ -139503,6 +140917,7 @@ MONDO:0020433 oboInOwl:hasExactSynonym "dilatation of the left atrial appendage" MONDO:0020433 oboInOwl:hasExactSynonym "ectasia of the left auricle" MONDO:0020433 oboInOwl:hasExactSynonym "dilatation of the left auricle" MONDO:0033367 oboInOwl:hasExactSynonym "EIEE58" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0033367 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 58" MONDO:0033367 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 58" MONDO:0033367 oboInOwl:hasExactSynonym "DEE58" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033367 oboInOwl:hasExactSynonym "infantile epileptic encephalopathy 58" @@ -139521,6 +140936,7 @@ MONDO:0010604 oboInOwl:hasExactSynonym "hereditary Factor IX deficiency disease" MONDO:0010604 oboInOwl:hasExactSynonym "congenital factor IX deficiency" MONDO:0010604 oboInOwl:hasExactSynonym "hemophilia type B" MONDO:0010604 oboInOwl:hasExactSynonym "Christmas disease" +MONDO:0010604 oboInOwl:hasExactSynonym "hemophilia b, X-linked recessive" MONDO:0010604 oboInOwl:hasExactSynonym "deficiency, functional factor IX" GO:1903524 oboInOwl:hasExactSynonym "up-regulation of blood circulation" GO:1903524 oboInOwl:hasExactSynonym "upregulation of blood circulation" @@ -139538,12 +140954,12 @@ MONDO:0012978 oboInOwl:hasExactSynonym "RSPH4A primary ciliary dyskinesia" MONDO:0012978 oboInOwl:hasExactSynonym "primary ciliary dyskinesia caused by mutation in RSPH4A" MONDO:0012978 oboInOwl:hasExactSynonym "ciliary dyskinesia, primary, type 11" MONDO:0012978 oboInOwl:hasExactSynonym "primary ciliary dyskinesia type 11" -MONDO:0009458 oboInOwl:hasExactSynonym "Schimke immunoosseous dysplasia" -MONDO:0009458 oboInOwl:hasExactSynonym "immunoosseous dysplasia Schimke type" -MONDO:0009458 oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia-nephrotic syndrome" -MONDO:0009458 oboInOwl:hasExactSynonym "Schimke syndrome" MONDO:0009458 oboInOwl:hasExactSynonym "Schimke immuno-osseous dysplasia" MONDO:0009458 oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia - nephrotic syndrome" +MONDO:0009458 oboInOwl:hasExactSynonym "immunoosseous dysplasia Schimke type" +MONDO:0009458 oboInOwl:hasExactSynonym "Schimke syndrome" +MONDO:0009458 oboInOwl:hasExactSynonym "Schimke immunoosseous dysplasia" +MONDO:0009458 oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia-nephrotic syndrome" MONDO:0007761 oboInOwl:hasExactSynonym "VLDL hyperlipoproteinemia" MONDO:0007761 oboInOwl:hasExactSynonym "Fredrickson type IV lipidaemia" MONDO:0007761 oboInOwl:hasExactSynonym "endogenous hyperlipidaemia" @@ -139555,12 +140971,13 @@ MONDO:0007414 oboInOwl:hasExactSynonym "vanishing bone disease" MONDO:0007414 oboInOwl:hasExactSynonym "Gorham-Stout disease" MONDO:0007414 oboInOwl:hasExactSynonym "idiopathic massive osteolysis" MONDO:0007414 oboInOwl:hasExactSynonym "Gorham syndrome" +MONDO:0010555 oboInOwl:hasExactSynonym "X-linked chondrodysplasia punctata 1" MONDO:0010555 oboInOwl:hasExactSynonym "brachytelephalangic chondrodysplasia punctata" MONDO:0010555 oboInOwl:hasExactSynonym "ARSE X-linked chondrodysplasia punctata" -MONDO:0010555 oboInOwl:hasExactSynonym "X-linked chondrodysplasia punctata caused by mutation in ARSE" -MONDO:0010555 oboInOwl:hasExactSynonym "X-linked chondrodysplasia punctata 1" -MONDO:0010555 oboInOwl:hasExactSynonym "X-linked chondrodysplasia punctata caused by mutation in arse" MONDO:0010555 oboInOwl:hasExactSynonym "arse X-linked chondrodysplasia punctata" +MONDO:0010555 oboInOwl:hasExactSynonym "X-linked chondrodysplasia punctata caused by mutation in arse" +MONDO:0010555 oboInOwl:hasExactSynonym "chondrodysplasia punctata, X-linked recessive, X-linked recessive" +MONDO:0010555 oboInOwl:hasExactSynonym "X-linked chondrodysplasia punctata caused by mutation in ARSE" CL:0002198 oboInOwl:hasExactSynonym "oxyphil" MONDO:0003165 oboInOwl:hasExactSynonym "cerebellar astrocytoma" MONDO:0003165 oboInOwl:hasExactSynonym "cerebellum astrocytoma" @@ -139619,6 +141036,7 @@ GO:0009056 oboInOwl:hasExactSynonym "degradation" GO:0009056 oboInOwl:hasExactSynonym "catabolism" GO:0009056 oboInOwl:hasExactSynonym "breakdown" MONDO:0032752 oboInOwl:hasExactSynonym "DEE75" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032752 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 75" MONDO:0032752 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75" MONDO:0032752 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 75" MONDO:0032752 oboInOwl:hasExactSynonym "EIEE75" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -139702,6 +141120,7 @@ MONDO:0017814 oboInOwl:hasExactSynonym "lymphoma of bone" MONDO:0012799 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 11" MONDO:0012799 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, type 11" MONDO:0012799 oboInOwl:hasExactSynonym "ACTC1 hypertrophic cardiomyopathy" +MONDO:0012799 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 11" MONDO:0012799 oboInOwl:hasExactSynonym "cardiomyopathy familial hypertrophic 11" MONDO:0012799 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy caused by mutation in ACTC1" MONDO:0012799 oboInOwl:hasExactSynonym "CMH11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -139852,13 +141271,13 @@ MONDO:0016972 oboInOwl:hasExactSynonym "partial duplication of the long arm of c MONDO:0016972 oboInOwl:hasExactSynonym "partial trisomy of chromosome 22q" MONDO:0016972 oboInOwl:hasExactSynonym "partial duplication of chromosome 22q" MONDO:0016625 oboInOwl:hasExactSynonym "rare acquired deficiency anemia" +MONDO:0010399 oboInOwl:hasExactSynonym "Xp21 contiguous gene deletion syndrome" MONDO:0010399 oboInOwl:hasExactSynonym "monosomy Xp21" MONDO:0010399 oboInOwl:hasExactSynonym "Xp21 microdeletion syndrome" MONDO:0010399 oboInOwl:hasExactSynonym "Glycerol kinase deficiency-contiguous gene syndrome" MONDO:0010399 oboInOwl:hasExactSynonym "chromosome Xp21 deletion syndrome" MONDO:0010399 oboInOwl:hasExactSynonym "complex glycerol kinase deficiency" MONDO:0010399 oboInOwl:hasExactSynonym "Del(X)(p21)" -MONDO:0010399 oboInOwl:hasExactSynonym "Xp21 contiguous gene deletion syndrome" MONDO:0021506 oboInOwl:hasExactSynonym "benign neoplasm of the spinal cord" MONDO:0021506 oboInOwl:hasExactSynonym "spinal cord benign neoplasm" MONDO:0021506 oboInOwl:hasExactSynonym "benign spinal cord neoplasm" @@ -139891,16 +141310,17 @@ MONDO:0003842 oboInOwl:hasExactSynonym "cerebellum childhood astrocytic tumor" MONDO:0008915 oboInOwl:hasExactSynonym "Najjar syndrome" MONDO:0008915 oboInOwl:hasExactSynonym "cardiogenital syndrome" MONDO:0008915 oboInOwl:hasExactSynonym "Malouf syndrome" -MONDO:0012578 oboInOwl:hasExactSynonym "autism, susceptibility to, 13" MONDO:0012578 oboInOwl:hasExactSynonym "AUTS13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012578 oboInOwl:hasExactSynonym "autism susceptibility 13" +MONDO:0012578 oboInOwl:hasExactSynonym "autism, susceptibility to, 13" MONDO:0016159 oboInOwl:hasExactSynonym "spinocerebellar ataxia-amyotrophy-deafness syndrome" MONDO:0003909 oboInOwl:hasExactSynonym "major vestibular gland adenomyoma" MONDO:0003909 oboInOwl:hasExactSynonym "adenomyoma of major vestibular gland" MONDO:0003909 oboInOwl:hasExactSynonym "Bartholin gland adenomyoma" MONDO:0019535 oboInOwl:hasExactSynonym "drug-induced AIHA" GO:0042359 oboInOwl:hasExactSynonym "vitamin D metabolism" -MONDO:0006143 oboInOwl:hasExactSynonym "squamous cell carcinoma of cervix" MONDO:0006143 oboInOwl:hasExactSynonym "squamous cervical cancer" +MONDO:0006143 oboInOwl:hasExactSynonym "squamous cell carcinoma of cervix" MONDO:0006143 oboInOwl:hasExactSynonym "cervix squamous cell carcinoma" MONDO:0006143 oboInOwl:hasExactSynonym "cervix uteri squamous cell carcinoma" MONDO:0006143 oboInOwl:hasExactSynonym "squamous cell carcinoma of the cervix uteri" @@ -140010,6 +141430,8 @@ MONDO:0002371 oboInOwl:hasExactSynonym "pericanalicular fibroadenoma of breast" MONDO:0009605 oboInOwl:hasExactSynonym "CYB5A methemoglobinemia" MONDO:0009605 oboInOwl:hasExactSynonym "methemoglobinemia type 4" MONDO:0009605 oboInOwl:hasExactSynonym "methemoglobinemia caused by mutation in CYB5A" +MONDO:0044252 oboInOwl:hasExactSynonym "skin/hair/eye pigmentation 6, blue/green eyes" +MONDO:0044252 oboInOwl:hasExactSynonym "skin/hair/eye pigmentation 6, blond/brown hair" GO:0016860 oboInOwl:hasExactSynonym "intramolecular isomerase activity" MONDO:0014631 oboInOwl:hasExactSynonym "hypomagnesemia, seizures, and intellectual disability" MONDO:0014631 oboInOwl:hasExactSynonym "hypomagnesemia, seizures, and mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -140042,6 +141464,7 @@ GO:0031945 oboInOwl:hasExactSynonym "positive regulation of glucocorticoid metab GO:0031945 oboInOwl:hasExactSynonym "up-regulation of glucocorticoid metabolic process" GO:0031945 oboInOwl:hasExactSynonym "upregulation of glucocorticoid metabolic process" GO:0031945 oboInOwl:hasExactSynonym "up regulation of glucocorticoid metabolic process" +MONDO:0032943 oboInOwl:hasExactSynonym "nabais sa-de vries syndrome, type 2" MONDO:0008846 oboInOwl:hasExactSynonym "hereditary atransferrinemia" MONDO:0008846 oboInOwl:hasExactSynonym "congenital atransferrinemia" MONDO:0008846 oboInOwl:hasExactSynonym "familial hypotransferrinemia" @@ -140065,6 +141488,7 @@ MONDO:0007219 oboInOwl:hasExactSynonym "brachydactyly type A6" MONDO:0011302 oboInOwl:hasExactSynonym "IDDM17" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011302 oboInOwl:hasExactSynonym "insulin-dependent diabetes mellitus 17" MONDO:0012860 oboInOwl:hasExactSynonym "thrombophilia due to protein C deficiency, autosomal recessive" +MONDO:0012860 oboInOwl:hasExactSynonym "thrombophilia 3 due to protein C deficiency, autosomal recessive" MONDO:0013502 oboInOwl:hasExactSynonym "amyloidosis, primary localized cutaneous, type 2" MONDO:0013502 oboInOwl:hasExactSynonym "amyloidosis, primary localized cutaneous, 2" MONDO:0008384 oboInOwl:hasExactSynonym "rheumatoid nodulosis" @@ -140088,6 +141512,7 @@ GO:0072524 oboInOwl:hasExactSynonym "pyridine-containing compound metabolism" GO:0072524 oboInOwl:hasExactSynonym "pyridine and derivative metabolic process" MONDO:0010564 oboInOwl:hasExactSynonym "deuteranopia" MONDO:0010564 oboInOwl:hasExactSynonym "partial achromatopsia, deutan type" +MONDO:0010564 oboInOwl:hasExactSynonym "colorblindness, deutan" MONDO:0010564 oboInOwl:hasExactSynonym "reduced red-green discrimination" MONDO:0010564 oboInOwl:hasExactSynonym "Deutan defect" MONDO:0005875 oboInOwl:hasExactSynonym "pseudo-fowlpest" @@ -140119,26 +141544,28 @@ MONDO:0009786 oboInOwl:hasExactSynonym "optic atrophy 6" MONDO:0009786 oboInOwl:hasExactSynonym "OPA6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016491 oboInOwl:hasExactSynonym "HbE-beta-thalassemia syndrome" MONDO:0016491 oboInOwl:hasExactSynonym "E-beta-thalassemia" +MONDO:0012055 oboInOwl:hasExactSynonym "Larsen-like syndrome, isolated cases" MONDO:0012231 oboInOwl:hasExactSynonym "HMSN2A2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012231 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuronal type 2A2" MONDO:0012231 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2" MONDO:0012231 oboInOwl:hasExactSynonym "MFN2 Charcot-Marie-Tooth disease type 2" MONDO:0012231 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2A2A" MONDO:0012231 oboInOwl:hasExactSynonym "HMSN IIA2" +MONDO:0012231 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, axonal, type 2A2A" MONDO:0012231 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2A2" MONDO:0012231 oboInOwl:hasExactSynonym "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2" MONDO:0012231 oboInOwl:hasExactSynonym "CMT2A2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012231 oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy IIA2" GO:0001228 oboInOwl:hasExactSynonym "RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription" GO:0001228 oboInOwl:hasExactSynonym "transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding" -MONDO:0010094 oboInOwl:hasExactSynonym "spondylocarpotarsal synostosis syndrome" -MONDO:0010094 oboInOwl:hasExactSynonym "SCT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010094 oboInOwl:hasExactSynonym "vertebral fusion with carpal coalition" -MONDO:0010094 oboInOwl:hasExactSynonym "spondylocarpotarsal synostosis" +MONDO:0010094 oboInOwl:hasExactSynonym "Synspondylism" MONDO:0010094 oboInOwl:hasExactSynonym "congenital scoliosis with unilateral unsegmented bar" -MONDO:0010094 oboInOwl:hasExactSynonym "congenital synspondylism" +MONDO:0010094 oboInOwl:hasExactSynonym "vertebral fusion with carpal coalition" MONDO:0010094 oboInOwl:hasExactSynonym "spondylocarpotarsal syndrome" -MONDO:0010094 oboInOwl:hasExactSynonym "Synspondylism" +MONDO:0010094 oboInOwl:hasExactSynonym "congenital synspondylism" +MONDO:0010094 oboInOwl:hasExactSynonym "SCT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010094 oboInOwl:hasExactSynonym "spondylocarpotarsal synostosis syndrome" +MONDO:0010094 oboInOwl:hasExactSynonym "spondylocarpotarsal synostosis" MONDO:0021661 oboInOwl:hasExactSynonym "coronary artery arteriosclerosis (disease)" MONDO:0021661 oboInOwl:hasExactSynonym "coronary artery arteriosclerosis disorder" MONDO:0021661 oboInOwl:hasExactSynonym "coronary atherosclerosis" @@ -140156,6 +141583,7 @@ MONDO:0018609 oboInOwl:hasExactSynonym "syndromic hereditary optic neuropathy" MONDO:0018609 oboInOwl:hasExactSynonym "syndrome associated with hereditary optic neuropathy" MONDO:0011731 oboInOwl:hasExactSynonym "SGLT1 deficiency" MONDO:0011731 oboInOwl:hasExactSynonym "glucose-galactose malabsorption" +MONDO:0010961 oboInOwl:hasExactSynonym "obesity with impaired prohormone processing" MONDO:0010961 oboInOwl:hasExactSynonym "PCI deficiency" MONDO:0017893 oboInOwl:hasExactSynonym "inherited AML" MONDO:0017893 oboInOwl:hasExactSynonym "familial AML" @@ -140163,6 +141591,7 @@ MONDO:0017893 oboInOwl:hasExactSynonym "Pure familial AML" MONDO:0017893 oboInOwl:hasExactSynonym "hereditary acute myeloid leukemia" MONDO:0017893 oboInOwl:hasExactSynonym "Pure familial acute myeloid leukemia" HP:0011110 oboInOwl:hasExactSynonym "IRecurrent inflammation of tonsils" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0010273 oboInOwl:hasExactSynonym "Hodgkin disease susceptibility, pseudoautosomal" MONDO:0010273 oboInOwl:hasExactSynonym "lymphoma, Hodgkin, X-linked pseudoautosomal" MONDO:0054782 oboInOwl:hasExactSynonym "leukodystrophy, hypomyelinating, 15" MONDO:0013496 oboInOwl:hasExactSynonym "IgA nephropathy, susceptibility to, 2" @@ -140178,6 +141607,7 @@ MONDO:0014883 oboInOwl:hasExactSynonym "CMH26" http://purl.obolibrary.org/obo/mo MONDO:0014883 oboInOwl:hasExactSynonym "cardiomyopathy familial hypertrophic 26" MONDO:0014883 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, 26" MONDO:0014883 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 26" +MONDO:0014883 oboInOwl:hasExactSynonym "cardiomyopathy, familial restrictive 5" MONDO:0014883 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, type 26" MONDO:0014883 oboInOwl:hasExactSynonym "FLNC hypertrophic cardiomyopathy" MONDO:0014883 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy caused by mutation in FLNC" @@ -140201,6 +141631,7 @@ MONDO:0010460 oboInOwl:hasExactSynonym "X-linked mental retardation with alacrim MONDO:0010460 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndromic 17" MONDO:0010460 oboInOwl:hasExactSynonym "syndromic X-linked intellectual disability type 17" MONDO:0010460 oboInOwl:hasExactSynonym "intellectual disability-alacrima-achalasia syndrome" +MONDO:0010460 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic 17, X-linked recessive" MONDO:0010460 oboInOwl:hasExactSynonym "X-linked intellectual disability with alacrima and achalasia" MONDO:0024422 oboInOwl:hasExactSynonym "sensory perception of sound disease" MONDO:0024422 oboInOwl:hasExactSynonym "disorder of sensory perception of sound" @@ -140247,6 +141678,7 @@ MONDO:0011968 oboInOwl:hasExactSynonym "limb-girdle muscular dystrophy due to al MONDO:0011968 oboInOwl:hasExactSynonym "Alpha-sarcoglycanopathy" MONDO:0011968 oboInOwl:hasExactSynonym "LGMD2D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011968 oboInOwl:hasExactSynonym "DMDA2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011968 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal recessive 3" MONDO:0011968 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA" MONDO:0011968 oboInOwl:hasExactSynonym "primary adhalinopathy" MONDO:0011968 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, type 2D" @@ -140362,8 +141794,10 @@ MONDO:0008097 oboInOwl:hasExactSynonym "linear sebaceous Nevus" MONDO:0008097 oboInOwl:hasExactSynonym "Nevus sebaceus syndrome" MONDO:0008097 oboInOwl:hasExactSynonym "organoid nevus syndrome" MONDO:0008097 oboInOwl:hasExactSynonym "Schimmelpenning syndrome" +MONDO:0008097 oboInOwl:hasExactSynonym "Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic" MONDO:0011146 oboInOwl:hasExactSynonym "tetrasomy type 12p" MONDO:0011146 oboInOwl:hasExactSynonym "Isochromosome 12p syndrome" +MONDO:0011146 oboInOwl:hasExactSynonym "Pallister-Killian syndrome, Somatic mosaicism" MONDO:0011146 oboInOwl:hasExactSynonym "Pallister-Killian syndrome" MONDO:0011146 oboInOwl:hasExactSynonym "Isochromosome 12p mosaicism" MONDO:0003140 oboInOwl:hasExactSynonym "immune Complex glomerulonephritis" @@ -140386,6 +141820,8 @@ MONDO:0005570 oboInOwl:hasExactSynonym "hematopoietic system disease or disorder MONDO:0009857 oboInOwl:hasExactSynonym "PMDS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009857 oboInOwl:hasExactSynonym "persistent Mullerian derivatives" MONDO:0009857 oboInOwl:hasExactSynonym "persistent Muellerian duct syndrome" +MONDO:0009857 oboInOwl:hasExactSynonym "persistent mullerian duct syndrome, type I" +MONDO:0009857 oboInOwl:hasExactSynonym "persistent mullerian duct syndrome, type II" MONDO:0009857 oboInOwl:hasExactSynonym "persistent Müllerian derivatives" MONDO:0009857 oboInOwl:hasExactSynonym "persistent Mullerian duct syndrome" GO:0032276 oboInOwl:hasExactSynonym "regulation of gonadotrophin secretion" @@ -140417,9 +141853,11 @@ MONDO:0021297 oboInOwl:hasExactSynonym "stage 0 nasopharyngeal throat cancer" MONDO:0021297 oboInOwl:hasExactSynonym "stage 0 nasopharyngeal carcinoma in situ" MONDO:0021297 oboInOwl:hasExactSynonym "stage 0 nasopharyngeal carcinoma aJCC v8" MONDO:0012548 oboInOwl:hasExactSynonym "infantile agranulocytosis" +MONDO:0012548 oboInOwl:hasExactSynonym "neutropenia, severe congenital 3, autosomal recessive" MONDO:0012548 oboInOwl:hasExactSynonym "severe congenital neutropenia type 3" GO:0051656 oboInOwl:hasExactSynonym "establishment of organelle localisation" MONDO:0007859 oboInOwl:hasExactSynonym "palmoplantar keratoderma i, striate, focal, or diffuse" +MONDO:0007859 oboInOwl:hasExactSynonym "keratosis palmoplantaris striata i, AD" MONDO:0011333 oboInOwl:hasExactSynonym "light fixation seizure syndrome" MONDO:0016829 oboInOwl:hasExactSynonym "megaduodenum and/or megacystis" MONDO:0016829 oboInOwl:hasExactSynonym "hereditary hollow visceral myopathy" @@ -140444,6 +141882,7 @@ GO:0051971 oboInOwl:hasExactSynonym "up regulation of transmission of nerve impu GO:0051971 oboInOwl:hasExactSynonym "upregulation of transmission of nerve impulse" MONDO:0013989 oboInOwl:hasExactSynonym "KCNT1 early infantile epileptic encephalopathy" MONDO:0013989 oboInOwl:hasExactSynonym "EIEE14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013989 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 14" MONDO:0013989 oboInOwl:hasExactSynonym "DEE14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013989 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in KCNT1" MONDO:0013989 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 14" @@ -140470,6 +141909,7 @@ MONDO:0014593 oboInOwl:hasExactSynonym "DEE29" http://purl.obolibrary.org/obo/mo MONDO:0014593 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 29" MONDO:0014593 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in AARS" MONDO:0014593 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 29" +MONDO:0014593 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 29" MONDO:0014593 oboInOwl:hasExactSynonym "EIEE29" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0043933 oboInOwl:hasExactSynonym "protein complex subunit organization" GO:0043933 oboInOwl:hasExactSynonym "protein complex subunit organisation" @@ -140485,12 +141925,12 @@ MONDO:0020726 oboInOwl:hasExactSynonym "autosomal dominant tubulointerstitial ki MONDO:0011911 oboInOwl:hasExactSynonym "cranio-lenticulo-sutural dysplasia, CLSD" MONDO:0011911 oboInOwl:hasExactSynonym "Boyadjiev-Jabs syndrome" MONDO:0011911 oboInOwl:hasExactSynonym "craniolenticulosutural dysplasia" -MONDO:0016576 oboInOwl:hasExactSynonym "FEWER digits" -MONDO:0016576 oboInOwl:hasExactSynonym "split hand foot malformation" MONDO:0016576 oboInOwl:hasExactSynonym "ectrodactyly" +MONDO:0016576 oboInOwl:hasExactSynonym "split hand foot malformation" +MONDO:0016576 oboInOwl:hasExactSynonym "FEWER digits" MONDO:0016576 oboInOwl:hasExactSynonym "lobster-claw deformity" -MONDO:0016576 oboInOwl:hasExactSynonym "split-hand deformity" MONDO:0016576 oboInOwl:hasExactSynonym "SHFM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0016576 oboInOwl:hasExactSynonym "split-hand deformity" MONDO:0016576 oboInOwl:hasExactSynonym "split-hand/foot malformation" MONDO:0013698 oboInOwl:hasExactSynonym "arthrogryposis, distal, type 1B" HP:0008047 oboInOwl:hasExactSynonym "Abnormality of eye blood vessels" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -140512,6 +141952,7 @@ GO:0003341 oboInOwl:hasExactSynonym "microtubule-based flagellum movement" MONDO:0016209 oboInOwl:hasExactSynonym "benign familial nocturnal alternating hemiplegia in childhood" MONDO:0001371 oboInOwl:hasExactSynonym "Protein energy malnutrition" MONDO:0041261 oboInOwl:hasExactSynonym "disorder of acid-base balance" +MONDO:0010369 oboInOwl:hasExactSynonym "nystagmus 5, congenital, X-linked, X-linked dominant" MONDO:0010369 oboInOwl:hasExactSynonym "NYS5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012483 oboInOwl:hasExactSynonym "RAX2 cone-rod dystrophy" MONDO:0012483 oboInOwl:hasExactSynonym "cone-rod dystrophy caused by mutation in RAX2" @@ -140528,6 +141969,7 @@ GO:0002699 oboInOwl:hasExactSynonym "up regulation of immune effector process" GO:0002699 oboInOwl:hasExactSynonym "up-regulation of immune effector process" NCBITaxon:447135 oboInOwl:hasExactSynonym "Bank vole" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name NCBITaxon:447135 oboInOwl:hasExactSynonym "bank vole" http://purl.obolibrary.org/obo/ncbitaxon#common_name +MONDO:0044283 oboInOwl:hasExactSynonym "obesity, susceptibility to, BMIQ18" GO:0002582 oboInOwl:hasExactSynonym "upregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II" GO:0002582 oboInOwl:hasExactSynonym "up-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II" GO:0002582 oboInOwl:hasExactSynonym "up regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II" @@ -140540,6 +141982,7 @@ MONDO:0007157 oboInOwl:hasExactSynonym "AMC" http://purl.obolibrary.org/obo/mond MONDO:0007157 oboInOwl:hasExactSynonym "arthrogryposis multiplex congenita" MONDO:0007157 oboInOwl:hasExactSynonym "arthrogryposis, distal, type 1A" MONDO:0007157 oboInOwl:hasExactSynonym "DA1A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007157 oboInOwl:hasExactSynonym "arthrogryposis, distal, type 2B4" MONDO:0002200 oboInOwl:hasExactSynonym "benign mixed tumor of the skin (chondroid syringoma)" MONDO:0002200 oboInOwl:hasExactSynonym "eccrine mixed tumor (morphologic abnormality)" MONDO:0002200 oboInOwl:hasExactSynonym "eccrine mixed tumor" @@ -140567,6 +142010,8 @@ MONDO:0015540 oboInOwl:hasExactSynonym "HLH" http://purl.obolibrary.org/obo/mond MONDO:0015540 oboInOwl:hasExactSynonym "hemophagocytic syndrome" MONDO:0015540 oboInOwl:hasExactSynonym "hemophagocytic lymphohistiocytosis" GO:0009126 oboInOwl:hasExactSynonym "purine nucleoside monophosphate metabolism" +MONDO:0009459 oboInOwl:hasExactSynonym "insensitivity to pain, congenital" +MONDO:0009459 oboInOwl:hasExactSynonym "neuropathy, hereditary sensory and autonomic, type IID" MONDO:0009459 oboInOwl:hasExactSynonym "channelopathy-associated CIP" MONDO:0043327 oboInOwl:hasExactSynonym "cerebrospinal fluid leak" GO:0019232 oboInOwl:hasExactSynonym "kinesthesia" @@ -140614,6 +142059,7 @@ MONDO:0004160 oboInOwl:hasExactSynonym "stress incontinence - female" MONDO:0004160 oboInOwl:hasExactSynonym "female urinary stress incontinence" MONDO:0009521 oboInOwl:hasExactSynonym "leukemia, acute myelocytic, with polyposis coli and colon cancer" MONDO:0008751 oboInOwl:hasExactSynonym "corticosterone 18-monooxygenase deficiency" +MONDO:0008751 oboInOwl:hasExactSynonym "hypoaldosteronism, congenital, due to cmo i deficiency" MONDO:0008751 oboInOwl:hasExactSynonym "corticosterone methyloxidase type 1 deficiency" MONDO:0044768 oboInOwl:hasExactSynonym "paraganglioma of vagus nerve" MONDO:0044768 oboInOwl:hasExactSynonym "paraganglioma of vagal body" @@ -140637,6 +142083,7 @@ MONDO:0007554 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex, Köbner t MONDO:0007554 oboInOwl:hasExactSynonym "generalized EBS, non-Dowling-Meara type" MONDO:0007554 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex, Kobner type" MONDO:0007554 oboInOwl:hasExactSynonym "generalized epidermolysis bullosa simplex, non-Dowling-Meara type" +MONDO:0007554 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex 1B, generalized intermediate" MONDO:0010605 oboInOwl:hasExactSynonym "hemopoietic proliferation" CHEBI:36902 oboInOwl:hasExactSynonym "chalcogen hydride" MONDO:0012979 oboInOwl:hasExactSynonym "primary ciliary dyskinesia 12 without situs inversus" @@ -140792,6 +142239,7 @@ MONDO:0019087 oboInOwl:hasExactSynonym "Cholangiocar.- intra/extrahepatic" MONDO:0019087 oboInOwl:hasExactSynonym "adult primary cholangiocellular carcinoma" MONDO:0019087 oboInOwl:hasExactSynonym "intrahepatic bile duct cancer (cholangiocarcinoma)" GO:0007281 oboInOwl:hasExactSynonym "germ-cell development" +MONDO:0008612 oboInOwl:hasExactSynonym "tuberous sclerosis-1" MONDO:0008612 oboInOwl:hasExactSynonym "tuberous sclerosis caused by mutation in TSC1" MONDO:0008612 oboInOwl:hasExactSynonym "tuberous sclerosis 1" MONDO:0008612 oboInOwl:hasExactSynonym "tuberous sclerosis type 1" @@ -140801,6 +142249,7 @@ MONDO:0007415 oboInOwl:hasExactSynonym "BCS1L mitochondrial complex III deficien MONDO:0007415 oboInOwl:hasExactSynonym "mitochondrial complex III deficiency caused by mutation in BCS1L" MONDO:0017524 oboInOwl:hasExactSynonym "preaxial polydactyly type 1, bilateral" MONDO:0049222 oboInOwl:hasExactSynonym "intellectual disability, X-linked 107" +MONDO:0049222 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 107" MONDO:0015387 oboInOwl:hasExactSynonym "nasolacrimal mucocele" MONDO:0015387 oboInOwl:hasExactSynonym "dacryocele" MONDO:0015387 oboInOwl:hasExactSynonym "dacryocystocele" @@ -140818,6 +142267,7 @@ MONDO:0009795 oboInOwl:hasExactSynonym "OFD9" http://purl.obolibrary.org/obo/mon MONDO:0042963 oboInOwl:hasExactSynonym "wandering spleen" GO:0022603 oboInOwl:hasExactSynonym "regulation of morphogenesis" MONDO:0018098 oboInOwl:hasExactSynonym "LGMD1E" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032942 oboInOwl:hasExactSynonym "nabais sa-de vries syndrome, type 1" MONDO:0015532 oboInOwl:hasExactSynonym "generalized eruptive histiocytoma" MONDO:0001456 oboInOwl:hasExactSynonym "paving stone retinal degeneration" MONDO:0001456 oboInOwl:hasExactSynonym "paving stone degeneration of retina" @@ -140838,8 +142288,9 @@ MONDO:0006144 oboInOwl:hasExactSynonym "cervical Wilms tumor" MONDO:0018965 oboInOwl:hasExactSynonym "Alport syndrome" MONDO:0018965 oboInOwl:hasExactSynonym "Alport deafness-nephropathy" MONDO:0018965 oboInOwl:hasExactSynonym "Alport's syndrome" -MONDO:0008729 oboInOwl:hasExactSynonym "CYP11B1 deficiency" MONDO:0008729 oboInOwl:hasExactSynonym "CAH due to 11-beta-hydroxylase deficiency" +MONDO:0008729 oboInOwl:hasExactSynonym "adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency" +MONDO:0008729 oboInOwl:hasExactSynonym "CYP11B1 deficiency" MONDO:0005602 oboInOwl:hasExactSynonym "germ cell teratoma of ovary" MONDO:0005602 oboInOwl:hasExactSynonym "teratoma of ovary" MONDO:0005602 oboInOwl:hasExactSynonym "ovarian teratoma" @@ -140855,6 +142306,7 @@ GO:0002792 oboInOwl:hasExactSynonym "down-regulation of peptide secretion" GO:0002792 oboInOwl:hasExactSynonym "down regulation of peptide secretion" MONDO:0011138 oboInOwl:hasExactSynonym "TLR5 systemic lupus erythematosus (disease)" MONDO:0011138 oboInOwl:hasExactSynonym "systemic lupus erythematosus, susceptibility to, type 1" +MONDO:0011138 oboInOwl:hasExactSynonym "systemic lupus erythematosus, resistance to" MONDO:0011138 oboInOwl:hasExactSynonym "susceptibility to systemic lupus erythematosus 1" MONDO:0011138 oboInOwl:hasExactSynonym "systemic lupus erythematosus, susceptibility to, 1" MONDO:0011138 oboInOwl:hasExactSynonym "systemic lupus erythematosus, resistance to, 1" @@ -140914,12 +142366,13 @@ MONDO:0000327 oboInOwl:hasExactSynonym "Bairnsdale ulcer" MONDO:0000327 oboInOwl:hasExactSynonym "Mossman ulcer" MONDO:0000327 oboInOwl:hasExactSynonym "Daintree ulcer" MONDO:0007788 oboInOwl:hasExactSynonym "hereditary hypertriglyceridemia (disease)" +MONDO:0007788 oboInOwl:hasExactSynonym "hypertriglyceridemia, susceptibility to" MONDO:0007788 oboInOwl:hasExactSynonym "hypertriglyceridemia, familial" -MONDO:0004069 oboInOwl:hasExactSynonym "mitochondrial disease" MONDO:0015636 oboInOwl:hasExactSynonym "Dirofilaria caused disease or disorder" MONDO:0015636 oboInOwl:hasExactSynonym "infection by Dirofilaria" MONDO:0015636 oboInOwl:hasExactSynonym "Dirofilaria infectious disease" MONDO:0015636 oboInOwl:hasExactSynonym "Dirofilaria disease or disorder" +MONDO:0004069 oboInOwl:hasExactSynonym "mitochondrial disease" MONDO:0009691 oboInOwl:hasExactSynonym "mycosis fungoides, unspecified site, extranodal and solid organ sites" MONDO:0009691 oboInOwl:hasExactSynonym "mycosis fungoides, Alibert-Bazin type" MONDO:0009691 oboInOwl:hasExactSynonym "MF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -140937,17 +142390,21 @@ MONDO:0005015 oboInOwl:hasExactSynonym "diabetes mellitus" MONDO:0005015 oboInOwl:hasExactSynonym "DM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013183 oboInOwl:hasExactSynonym "TRPM1 congenital stationary night blindness" MONDO:0013183 oboInOwl:hasExactSynonym "congenital stationary night blindness type 1C" +MONDO:0013183 oboInOwl:hasExactSynonym "night blindness, congenital stationary (complete), 1C, autosomal recessive" MONDO:0013183 oboInOwl:hasExactSynonym "congenital stationary night blindness 1C" MONDO:0013183 oboInOwl:hasExactSynonym "CSNB1C" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013183 oboInOwl:hasExactSynonym "congenital stationary night blindness 1C autosomal recessive" MONDO:0013183 oboInOwl:hasExactSynonym "congenital stationary night blindness caused by mutation in TRPM1" +MONDO:0009606 oboInOwl:hasExactSynonym "methemoglobinemia, type I" MONDO:0009606 oboInOwl:hasExactSynonym "methemoglobinemia due to deficiency of methemoglobin reductase" +MONDO:0009606 oboInOwl:hasExactSynonym "methemoglobinemia, type II" MONDO:0020686 oboInOwl:hasExactSynonym "acute tonsillitis" MONDO:0011871 oboInOwl:hasExactSynonym "type B Niemann-Pick disease" MONDO:0010818 oboInOwl:hasExactSynonym "retinitis pigmentosa 12" MONDO:0010818 oboInOwl:hasExactSynonym "RP12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010818 oboInOwl:hasExactSynonym "CRB1 retinitis pigmentosa" MONDO:0010818 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation in CRB1" +MONDO:0010818 oboInOwl:hasExactSynonym "retinitis pigmentosa-12" MONDO:0010818 oboInOwl:hasExactSynonym "retinitis pigmentosa type 12" MONDO:0020831 oboInOwl:hasExactSynonym "VCRL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020831 oboInOwl:hasExactSynonym "vertebral, cardiac, renal, and limb defects syndrome" @@ -140958,6 +142415,7 @@ MONDO:0024573 oboInOwl:hasExactSynonym "familial hypertrophic cardiomyopathy" MONDO:0024573 oboInOwl:hasExactSynonym "familila or idiopathic hypertrophic obstructive cardiomyopathy" MONDO:0011051 oboInOwl:hasExactSynonym "lethal short-limb skeletal dysplasia, Al Gazali type" MONDO:0015166 oboInOwl:hasExactSynonym "AML with t(8;21)(q22;q22) translocation" +MONDO:0033650 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 15" MONDO:0033650 oboInOwl:hasExactSynonym "MC4DN15" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016240 oboInOwl:hasExactSynonym "longitudinal meromelia" MONDO:0012288 oboInOwl:hasExactSynonym "iridogoniodysgenesis and skeletal anomalies" @@ -141045,6 +142503,7 @@ MONDO:0009123 oboInOwl:hasExactSynonym "congenital dopamine beta-hydroxylase def MONDO:0009123 oboInOwl:hasExactSynonym "noradrenaline deficiency" MONDO:0009123 oboInOwl:hasExactSynonym "dopamine beta-hydroxylase deficiency" MONDO:0009123 oboInOwl:hasExactSynonym "norepinephrine deficiency" +MONDO:0009123 oboInOwl:hasExactSynonym "orthostatic hypotension 1, due to DBH deficiency" GO:0050789 oboInOwl:hasExactSynonym "regulation of physiological process" MONDO:0044682 oboInOwl:hasExactSynonym "MYBPC1-related autosomal recessive non-lethal AMC syndrome" MONDO:0009490 oboInOwl:hasExactSynonym "Papillon-Lefvre syndrome" @@ -141083,6 +142542,7 @@ MONDO:0012861 oboInOwl:hasExactSynonym "FIGLA primary ovarian failure" MONDO:0013503 oboInOwl:hasExactSynonym "candidiasis, familial, type 6" MONDO:0013503 oboInOwl:hasExactSynonym "familial chronic mucocutaneous candidiasis caused by mutation in IL17F" MONDO:0013503 oboInOwl:hasExactSynonym "candidiasis, familial, 6" +MONDO:0013503 oboInOwl:hasExactSynonym "candidiasis, familial, 6, autosomal dominant" MONDO:0013503 oboInOwl:hasExactSynonym "IL17F familial chronic mucocutaneous candidiasis" MONDO:0008385 oboInOwl:hasExactSynonym "rhiny" MONDO:0018450 oboInOwl:hasExactSynonym "SMARD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -141144,6 +142604,7 @@ MONDO:0003362 oboInOwl:hasExactSynonym "leiomyosarcoma of zone of skin" MONDO:0003362 oboInOwl:hasExactSynonym "cutaneous leiomyosarcoma (disease)" MONDO:0003362 oboInOwl:hasExactSynonym "leiomyosarcoma of skin" MONDO:0014235 oboInOwl:hasExactSynonym "chromosome 22q13 duplication syndrome" +MONDO:0014235 oboInOwl:hasExactSynonym "chromosome 22q13 duplication syndrome, isolated cases" MONDO:0008782 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis with polyglucosan bodies" MONDO:0002918 oboInOwl:hasExactSynonym "clear cell meningioma" MONDO:0002918 oboInOwl:hasExactSynonym "clear cell meningioma (morphologic abnormality)" @@ -141155,9 +142616,14 @@ MONDO:0018957 oboInOwl:hasExactSynonym "pudendal nerve neuralgia" MONDO:0018957 oboInOwl:hasExactSynonym "pudendal nerve entrapment syndrome" MONDO:0018957 oboInOwl:hasExactSynonym "neuralgia of pudendal nerve" MONDO:0010962 oboInOwl:hasExactSynonym "KRT1-related diffuse nonepidermolytic keratoderma" +MONDO:0010962 oboInOwl:hasExactSynonym "NEPPK" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010962 oboInOwl:hasExactSynonym "non-epidermolytic palmoplantar keratoderma" +MONDO:0010962 oboInOwl:hasExactSynonym "nonepidermolytic palmoplantar keratoderma" +MONDO:0010962 oboInOwl:hasExactSynonym "diffuse palmoplantar keratoderma, Bothnian type" MONDO:0010962 oboInOwl:hasExactSynonym "palmoplantar keratoderma, nonepidermolytic" MONDO:0010962 oboInOwl:hasExactSynonym "diffuse nonepidermolytic palmoplantar keratoderma" MONDO:0060555 oboInOwl:hasExactSynonym "vertebral, cardiac, renal, and limb defects syndrome 2" +MONDO:0010274 oboInOwl:hasExactSynonym "testicular germ cell tumor" MONDO:0010274 oboInOwl:hasExactSynonym "TGCT1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010274 oboInOwl:hasExactSynonym "testicular germ cell tumor 1" MONDO:0013497 oboInOwl:hasExactSynonym "Okt4 epitope deficiency" @@ -141176,10 +142642,10 @@ CL:0000035 oboInOwl:hasExactSynonym "unipotent stem cell" MONDO:0003869 oboInOwl:hasExactSynonym "pediatric glioma of brain stem" MONDO:0003869 oboInOwl:hasExactSynonym "childhood brain stem glioma" MONDO:0003869 oboInOwl:hasExactSynonym "childhood glioma of the brainstem" -MONDO:0003869 oboInOwl:hasExactSynonym "pediatric glioma of the brainstem" MONDO:0003869 oboInOwl:hasExactSynonym "childhood glioma of brainstem" -MONDO:0003869 oboInOwl:hasExactSynonym "pediatric brain stem glioma" MONDO:0003869 oboInOwl:hasExactSynonym "childhood glioma of brain stem" +MONDO:0003869 oboInOwl:hasExactSynonym "pediatric glioma of the brainstem" +MONDO:0003869 oboInOwl:hasExactSynonym "pediatric brain stem glioma" MONDO:0003869 oboInOwl:hasExactSynonym "pediatric glioma of the brain stem" MONDO:0003869 oboInOwl:hasExactSynonym "childhood brainstem glioma" MONDO:0003869 oboInOwl:hasExactSynonym "childhood glioma of the brain stem" @@ -141188,6 +142654,7 @@ MONDO:0003869 oboInOwl:hasExactSynonym "pediatric glioma of brainstem" MONDO:0003869 oboInOwl:hasExactSynonym "brain stem glioma" MONDO:0003869 oboInOwl:hasExactSynonym "pediatric brainstem glioma" MONDO:0010461 oboInOwl:hasExactSynonym "X-linked intellectual disability-nail dystrophy-seizures syndrome" +MONDO:0010461 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive" MONDO:0010461 oboInOwl:hasExactSynonym "mental retardation, X-linked syndromic, Nascimento-type" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010461 oboInOwl:hasExactSynonym "intellectual disability, X-linked syndromic, Nascimento-type" MONDO:0010461 oboInOwl:hasExactSynonym "syndromic X-linked intellectual disability Nascimento type" @@ -141209,8 +142676,9 @@ CL:0000222 oboInOwl:hasExactSynonym "mesoblast" MONDO:0006866 oboInOwl:hasExactSynonym "neonatal myasthenia gravis" MONDO:0100242 oboInOwl:hasExactSynonym "glioma, susceptibility" MONDO:0100242 oboInOwl:hasExactSynonym "glioma, susceptibility to" -MONDO:0030902 oboInOwl:hasExactSynonym "mitochondrial complex 1 deficiency, nuclear type 36" +MONDO:0030902 oboInOwl:hasExactSynonym "mitochondrial complex I deficiency, nuclear type 36" MONDO:0030902 oboInOwl:hasExactSynonym "MC1DN36" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0030902 oboInOwl:hasExactSynonym "mitochondrial complex 1 deficiency, nuclear type 36" MONDO:0010682 oboInOwl:hasExactSynonym "myoclonic epilepsy, progressive" MONDO:0017486 oboInOwl:hasExactSynonym "radial longitidinal meromelia, unilateral" MONDO:0001319 oboInOwl:hasExactSynonym "malignant neoplasm of lateral wall of urinary bladder" @@ -141221,18 +142689,19 @@ GO:0007346 oboInOwl:hasExactSynonym "mitotic cell cycle regulation" GO:0007346 oboInOwl:hasExactSynonym "modulation of mitotic cell cycle progression" GO:0007346 oboInOwl:hasExactSynonym "regulation of mitotic cell cycle progression" GO:0007346 oboInOwl:hasExactSynonym "mitotic cell cycle modulation" -MONDO:0013222 oboInOwl:hasExactSynonym "Miyoshi muscular dystrophy 3" -MONDO:0013222 oboInOwl:hasExactSynonym "distal anoctaminopathy" -MONDO:0013222 oboInOwl:hasExactSynonym "Miyoshi muscular dystrophy type 3" -MONDO:0013222 oboInOwl:hasExactSynonym "MMD3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0042304 oboInOwl:hasExactSynonym "regulation of fatty acid biosynthesis" GO:0042304 oboInOwl:hasExactSynonym "regulation of fatty acid anabolism" GO:0042304 oboInOwl:hasExactSynonym "regulation of fatty acid synthesis" GO:0042304 oboInOwl:hasExactSynonym "regulation of fatty acid formation" +MONDO:0013222 oboInOwl:hasExactSynonym "Miyoshi muscular dystrophy 3" +MONDO:0013222 oboInOwl:hasExactSynonym "distal anoctaminopathy" +MONDO:0013222 oboInOwl:hasExactSynonym "Miyoshi muscular dystrophy type 3" +MONDO:0013222 oboInOwl:hasExactSynonym "MMD3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002195 oboInOwl:hasExactSynonym "mammalian vulva squamous cell neoplasm" MONDO:0002195 oboInOwl:hasExactSynonym "vulvar squamous neoplasm" MONDO:0002195 oboInOwl:hasExactSynonym "vulvar squamous tumor" MONDO:0008098 oboInOwl:hasExactSynonym "Nievergelt syndrome" +MONDO:0007470 oboInOwl:hasExactSynonym "calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia" MONDO:0007470 oboInOwl:hasExactSynonym "familial doughnut lesions of skull" MONDO:0009429 oboInOwl:hasExactSynonym "hypophosphatemia, renal, with intracerebral calcifications" GO:0051494 oboInOwl:hasExactSynonym "down-regulation of cytoskeleton organization" @@ -141247,23 +142716,25 @@ MONDO:0007732 oboInOwl:hasExactSynonym "atriodigital dysplasia type 1" MONDO:0007732 oboInOwl:hasExactSynonym "atriodigital dysplasia" MONDO:0007732 oboInOwl:hasExactSynonym "heart-hand syndrome type 1" MONDO:0007732 oboInOwl:hasExactSynonym "Holt-Oram syndrome" -MONDO:0014038 oboInOwl:hasExactSynonym "POLE colorectal cancer" MONDO:0014038 oboInOwl:hasExactSynonym "colorectal cancer, susceptibility to, type 12" +MONDO:0014038 oboInOwl:hasExactSynonym "POLE colorectal cancer" MONDO:0014038 oboInOwl:hasExactSynonym "colorectal cancer, susceptibility to, 12" MONDO:0014038 oboInOwl:hasExactSynonym "colorectal cancer caused by mutation in POLE" MONDO:0010565 oboInOwl:hasExactSynonym "partial achromatopsia, protan type" MONDO:0010565 oboInOwl:hasExactSynonym "protan defect" MONDO:0010565 oboInOwl:hasExactSynonym "red color blindness" +MONDO:0010565 oboInOwl:hasExactSynonym "colorblindness, protan" MONDO:0010565 oboInOwl:hasExactSynonym "protanopia" GO:0050954 oboInOwl:hasExactSynonym "perception of mechanical stimulus" GO:0050954 oboInOwl:hasExactSynonym "mechanosensory perception" MONDO:0020630 oboInOwl:hasExactSynonym "epileptic encephalopathy, infantile or early childhood, 1" +MONDO:0020630 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 91" MONDO:0011511 oboInOwl:hasExactSynonym "clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia" MONDO:0036870 oboInOwl:hasExactSynonym "neoplasm of lymphatic vessel" MONDO:0036870 oboInOwl:hasExactSynonym "tumor of lymphatic vessel" MONDO:0036870 oboInOwl:hasExactSynonym "lymphatic vessel tumor" -MONDO:0036870 oboInOwl:hasExactSynonym "neoplasm of lymph vessel" MONDO:0036870 oboInOwl:hasExactSynonym "tumor of lymph vessel" +MONDO:0036870 oboInOwl:hasExactSynonym "neoplasm of lymph vessel" MONDO:0036870 oboInOwl:hasExactSynonym "neoplasm of the lymph vessel" MONDO:0036870 oboInOwl:hasExactSynonym "lymphatic vessel neoplasm" MONDO:0036870 oboInOwl:hasExactSynonym "lymph vessel neoplasm" @@ -141383,13 +142854,13 @@ MONDO:0007062 oboInOwl:hasExactSynonym "digits 2-5 hypodactyly, unilateral" MONDO:0007062 oboInOwl:hasExactSynonym "Adactyly of hand, unilateral" MONDO:0007062 oboInOwl:hasExactSynonym "digits 2-5 oligodactyly, unilateral" MONDO:0005070 oboInOwl:hasExactSynonym "neoplasia" +MONDO:0005070 oboInOwl:hasExactSynonym "tumor" +MONDO:0005070 oboInOwl:hasExactSynonym "neoplastic growth" +MONDO:0005070 oboInOwl:hasExactSynonym "neoplasm (disease)" MONDO:0005070 oboInOwl:hasExactSynonym "disease of cellular proliferation" MONDO:0005070 oboInOwl:hasExactSynonym "tumor disease" -MONDO:0005070 oboInOwl:hasExactSynonym "neoplasm (disease)" -MONDO:0005070 oboInOwl:hasExactSynonym "neoplastic growth" MONDO:0005070 oboInOwl:hasExactSynonym "neoplastic disease" MONDO:0005070 oboInOwl:hasExactSynonym "neoplasm" -MONDO:0005070 oboInOwl:hasExactSynonym "tumor" MONDO:0030894 oboInOwl:hasExactSynonym "bone marrow failure syndrome 7, digenic" MONDO:0030894 oboInOwl:hasExactSynonym "AMEDS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030894 oboInOwl:hasExactSynonym "AMED syndrome, digenic" @@ -141471,6 +142942,7 @@ HP:0010301 oboInOwl:hasExactSynonym "Incomplete closure of the vertebral arch" ECTO:0000515 oboInOwl:hasExactSynonym "exposure to herbicide" MONDO:0021077 oboInOwl:hasExactSynonym "cystic tumor" MONDO:0021077 oboInOwl:hasExactSynonym "cystic neoplasm" +MONDO:0013886 oboInOwl:hasExactSynonym "cerebellar dysfunction with variable cognitive and behavioral abnormalities" MONDO:0013886 oboInOwl:hasExactSynonym "nonprogressive cerebellar atxia with intellectual disability" GO:0019233 oboInOwl:hasExactSynonym "nociception" MONDO:0008052 oboInOwl:hasExactSynonym "myopathy with storage of glycoproteins and Glycosaminoglycans" @@ -141501,8 +142973,8 @@ MONDO:0019809 oboInOwl:hasExactSynonym "Congential aortic valve insufficiency" MONDO:0019809 oboInOwl:hasExactSynonym "congenital insufficiency of aortic valve" MONDO:0019809 oboInOwl:hasExactSynonym "congenital aortic insufficiency" MONDO:0011539 oboInOwl:hasExactSynonym "TNNT1 nemaline myopathy" -MONDO:0011539 oboInOwl:hasExactSynonym "nemaline myopathy 5, Amish type" MONDO:0011539 oboInOwl:hasExactSynonym "ANM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011539 oboInOwl:hasExactSynonym "nemaline myopathy 5, Amish type" MONDO:0011539 oboInOwl:hasExactSynonym "NEM5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011539 oboInOwl:hasExactSynonym "nemaline myopathy caused by mutation in TNNT1" MONDO:0011539 oboInOwl:hasExactSynonym "nemaline myopathy 5" @@ -141533,6 +143005,7 @@ MONDO:0003813 oboInOwl:hasExactSynonym "ovarian papillary tumor (morphologic abn MONDO:0003813 oboInOwl:hasExactSynonym "papillary tumor of the ovary" MONDO:0003813 oboInOwl:hasExactSynonym "papillary neoplasm of the ovary" MONDO:0003813 oboInOwl:hasExactSynonym "papillary neoplasm of ovary" +MONDO:0044284 oboInOwl:hasExactSynonym "blood group, Gerbich" CL:0002427 oboInOwl:hasExactSynonym "T.DP.sm.Th" GO:0032106 oboInOwl:hasExactSynonym "up-regulation of response to extracellular stimulus" GO:0032106 oboInOwl:hasExactSynonym "upregulation of response to extracellular stimulus" @@ -141554,6 +143027,10 @@ MONDO:0004631 oboInOwl:hasExactSynonym "malignant neoplasm of tongue" MONDO:0004631 oboInOwl:hasExactSynonym "malignant tumor of the tongue" MONDO:0004631 oboInOwl:hasExactSynonym "tongue neoplasm malignant" MONDO:0004631 oboInOwl:hasExactSynonym "tongue neoplasm, malignant" +MONDO:0018326 oboInOwl:hasExactSynonym "neonatal myasthenia gravis" +MONDO:0018326 oboInOwl:hasExactSynonym "transient neonatal autoimmune myasthenia gravis" +MONDO:0018326 oboInOwl:hasExactSynonym "NMG" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0018326 oboInOwl:hasExactSynonym "transient neonatal acquired myasthenia" MONDO:0021467 oboInOwl:hasExactSynonym "benign renal pelvis neoplasm" MONDO:0021467 oboInOwl:hasExactSynonym "benign renal pelvis tumor" MONDO:0021467 oboInOwl:hasExactSynonym "benign tumor of the renal pelvis" @@ -141561,10 +143038,6 @@ MONDO:0021467 oboInOwl:hasExactSynonym "renal pelvis benign neoplasm" MONDO:0021467 oboInOwl:hasExactSynonym "benign tumor of renal pelvis" MONDO:0021467 oboInOwl:hasExactSynonym "benign neoplasm of the renal pelvis" MONDO:0021467 oboInOwl:hasExactSynonym "benign kidney pelvis neoplasm" -MONDO:0018326 oboInOwl:hasExactSynonym "neonatal myasthenia gravis" -MONDO:0018326 oboInOwl:hasExactSynonym "transient neonatal autoimmune myasthenia gravis" -MONDO:0018326 oboInOwl:hasExactSynonym "NMG" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0018326 oboInOwl:hasExactSynonym "transient neonatal acquired myasthenia" MONDO:0000382 oboInOwl:hasExactSynonym "respiratory system benign neoplasm" CHEBI:23443 oboInOwl:hasExactSynonym "cyclic amide" HP:0010295 oboInOwl:hasExactSynonym "Lingual aplasia/hypoplasia" @@ -141606,6 +143079,7 @@ MONDO:0001652 oboInOwl:hasExactSynonym "melanoma (disease) of scrotum" MONDO:0001652 oboInOwl:hasExactSynonym "melanoma of scrotum" MONDO:0001652 oboInOwl:hasExactSynonym "melanoma of the scrotum" MONDO:0007555 oboInOwl:hasExactSynonym "EBSOG" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007555 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex 5A, Ogna type" MONDO:0007555 oboInOwl:hasExactSynonym "EBS-O" MONDO:0007555 oboInOwl:hasExactSynonym "EBS-Og" MONDO:0007555 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex, Ogna type" @@ -141677,8 +143151,8 @@ MONDO:0019086 oboInOwl:hasExactSynonym "carcinoma of the esophagus" MONDO:0018105 oboInOwl:hasExactSynonym "WFS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018105 oboInOwl:hasExactSynonym "diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome" MONDO:0018105 oboInOwl:hasExactSynonym "diabetes mellitus and insipidus with optic atrophy and deafness" -MONDO:0018105 oboInOwl:hasExactSynonym "DIDMOAD syndrome" MONDO:0018105 oboInOwl:hasExactSynonym "Wolfram syndrome" +MONDO:0018105 oboInOwl:hasExactSynonym "DIDMOAD syndrome" MONDO:0018105 oboInOwl:hasExactSynonym "DIDMOAD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018105 oboInOwl:hasExactSynonym "diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome" MONDO:0017816 oboInOwl:hasExactSynonym "systemic amyloidosis" @@ -141693,6 +143167,7 @@ MONDO:0001372 oboInOwl:hasExactSynonym "neck of urinary bladder cancer" MONDO:0014164 oboInOwl:hasExactSynonym "TMEM231 Meckel syndrome" MONDO:0014164 oboInOwl:hasExactSynonym "Meckel syndrome, type 11" MONDO:0014164 oboInOwl:hasExactSynonym "Meckel syndrome caused by mutation in TMEM231" +MONDO:0014164 oboInOwl:hasExactSynonym "meckel syndrome 11" MONDO:0030911 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant 46" MONDO:0020437 oboInOwl:hasExactSynonym "partial atrioventricular septal defect: ostium primum type" MONDO:0020437 oboInOwl:hasExactSynonym "PAVC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -141712,6 +143187,7 @@ HP:0000745 oboInOwl:hasExactSynonym "Lack of motivation" http://purl.obolibrary. HP:0000745 oboInOwl:hasExactSynonym "Diminished motivation" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0000745 oboInOwl:hasExactSynonym "Lack of initiative" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0000745 oboInOwl:hasExactSynonym "Lacks initiative" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0008355 oboInOwl:hasExactSynonym "pyloric stenosis, infantile hypertrophic 1, multifactorial" MONDO:0008355 oboInOwl:hasExactSynonym "IHPS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008355 oboInOwl:hasExactSynonym "pyloric stenosis, infantile hypertrophic, 1" CL:0002072 oboInOwl:hasExactSynonym "cardiac pacemaker cell" @@ -141764,6 +143240,7 @@ MONDO:0015388 oboInOwl:hasExactSynonym "Polyrhinia" MONDO:0009796 oboInOwl:hasExactSynonym "hyperornithinemia" MONDO:0009796 oboInOwl:hasExactSynonym "hoga" MONDO:0009796 oboInOwl:hasExactSynonym "ornithine aminotransferase deficiency" +MONDO:0009796 oboInOwl:hasExactSynonym "gyrate atrophy of choroid and retina with or without ornithinemia" MONDO:0009796 oboInOwl:hasExactSynonym "gyrate atrophy" MONDO:0009796 oboInOwl:hasExactSynonym "gyrate atrophy of the choroid and/or retina" MONDO:0009796 oboInOwl:hasExactSynonym "gyrate atrophy of the retina" @@ -141796,6 +143273,7 @@ MONDO:0014951 oboInOwl:hasExactSynonym "Sotos syndrome type 3" MONDO:0014951 oboInOwl:hasExactSynonym "APC2 Sotos syndrome" MONDO:0014951 oboInOwl:hasExactSynonym "Sotos syndrome caused by mutation in APC2" MONDO:0014951 oboInOwl:hasExactSynonym "SOTOS3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014951 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 74" MONDO:0010606 oboInOwl:hasExactSynonym "hernia, anterior diaphragmatic" MONDO:0011139 oboInOwl:hasExactSynonym "preaxial hallucal polydactyly" MONDO:0000875 oboInOwl:hasExactSynonym "M5b adult acute differentiated monocytic leukemia" @@ -141824,6 +143302,7 @@ MONDO:0007416 oboInOwl:hasExactSynonym "Chinese herb endemic nephropathy" MONDO:0007416 oboInOwl:hasExactSynonym "endemic nephropathy" MONDO:0017525 oboInOwl:hasExactSynonym "preaxial polydactyly type 2, unilateral" MONDO:0017525 oboInOwl:hasExactSynonym "unilateral PPD2" +MONDO:0049223 oboInOwl:hasExactSynonym "osteogenesis imperfecta, type XIX, X-linked recessive" MONDO:0006615 oboInOwl:hasExactSynonym "sweat gland disease" MONDO:0006615 oboInOwl:hasExactSynonym "disease or disorder of sweat gland" MONDO:0006615 oboInOwl:hasExactSynonym "disorder of sweat gland" @@ -141904,6 +143383,7 @@ HP:0002035 oboInOwl:hasExactSynonym "Rectum protrudes through anus" http://purl. MONDO:0001678 oboInOwl:hasExactSynonym "tuberculosis of intestine" MONDO:0001678 oboInOwl:hasExactSynonym "intestine tuberculosis" MONDO:0008205 oboInOwl:hasExactSynonym "PTLAH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008205 oboInOwl:hasExactSynonym "patella aplasia or hypoplasia" MONDO:0002624 oboInOwl:hasExactSynonym "leiomyosarcoma of bone tissue" MONDO:0002624 oboInOwl:hasExactSynonym "leiomyosarcoma of bone" MONDO:0002624 oboInOwl:hasExactSynonym "bone leiomyosarcoma" @@ -141925,6 +143405,7 @@ MONDO:0013912 oboInOwl:hasExactSynonym "TAC3 hypogonadotropic hypogonadism" MONDO:0009692 oboInOwl:hasExactSynonym "chronic idiopathic myelofibrosis" MONDO:0009692 oboInOwl:hasExactSynonym "myelofibrosis with myeloid metaplasia" MONDO:0009692 oboInOwl:hasExactSynonym "AMM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009692 oboInOwl:hasExactSynonym "myelofibrosis, somatic" MONDO:0009692 oboInOwl:hasExactSynonym "aleukemic myelosis" MONDO:0009692 oboInOwl:hasExactSynonym "myelosclerosis" MONDO:0009692 oboInOwl:hasExactSynonym "myelosclerosis with myeloid metaplasia" @@ -141933,6 +143414,7 @@ MONDO:0009692 oboInOwl:hasExactSynonym "megakaryocytic myelosclerosis" MONDO:0009692 oboInOwl:hasExactSynonym "bone marrow fibrosis" MONDO:0009692 oboInOwl:hasExactSynonym "idiopathic myelofibrosis" MONDO:0009692 oboInOwl:hasExactSynonym "osteomyelofibrosis" +MONDO:0009692 oboInOwl:hasExactSynonym "myelofibrosis with myeloid metaplasia, somatic" MONDO:0009692 oboInOwl:hasExactSynonym "Agnogenic myeloid metaplasia" MONDO:0009692 oboInOwl:hasExactSynonym "primary myelofibrosis" MONDO:0009692 oboInOwl:hasExactSynonym "CIMF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -141946,13 +143428,15 @@ MONDO:0037735 oboInOwl:hasExactSynonym "malignant neoplasm of sebaceous gland" MONDO:0037735 oboInOwl:hasExactSynonym "malignant sebaceous neoplasm" MONDO:0037735 oboInOwl:hasExactSynonym "malignant tumor of the sebaceous gland" MONDO:0009607 oboInOwl:hasExactSynonym "methionine adenosyltransferase deficiency" +MONDO:0009607 oboInOwl:hasExactSynonym "methionine adenosyltransferase deficiency, autosomal recessive" +MONDO:0009607 oboInOwl:hasExactSynonym "hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency" MONDO:0009607 oboInOwl:hasExactSynonym "isolated persistent hypermethioninemia" MONDO:0009607 oboInOwl:hasExactSynonym "brain demyelination due to methionine adenosyltransferase deficiency" MONDO:0009607 oboInOwl:hasExactSynonym "MAT deficiency" MONDO:0009607 oboInOwl:hasExactSynonym "MAT I/III deficiency" -MONDO:0030042 oboInOwl:hasExactSynonym "proteinuria, chronic benign" -MONDO:0030042 oboInOwl:hasExactSynonym "PROTEINURIA, CHRONIC BENIGN" MONDO:0030042 oboInOwl:hasExactSynonym "PROCHOB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0030042 oboInOwl:hasExactSynonym "PROTEINURIA, CHRONIC BENIGN" +MONDO:0030042 oboInOwl:hasExactSynonym "proteinuria, chronic benign" NCBITaxon:11646 oboInOwl:hasExactSynonym "Lentivirinae" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name MONDO:0100307 oboInOwl:hasExactSynonym "adult Refsum disease due to PEX7 defect" MONDO:0014633 oboInOwl:hasExactSynonym "myoclonic-atonic epilepsy" @@ -141960,13 +143444,17 @@ ECTO:4000025 oboInOwl:hasExactSynonym "increased pressure exposure" MONDO:0024574 oboInOwl:hasExactSynonym "von Willebrand's disease" MONDO:0024574 oboInOwl:hasExactSynonym "von Willebrand disorder" MONDO:0024574 oboInOwl:hasExactSynonym "VWD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0033651 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 16" +MONDO:0033651 oboInOwl:hasExactSynonym "MC4DN16" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015167 oboInOwl:hasExactSynonym "Adam syndrome" MONDO:0015167 oboInOwl:hasExactSynonym "amniotic deformity-adhesion-mutilation syndrome" MONDO:0015167 oboInOwl:hasExactSynonym "deformity due to amniotic band" MONDO:0015167 oboInOwl:hasExactSynonym "amniotic bands" MONDO:0015167 oboInOwl:hasExactSynonym "amniotic band constriction" -MONDO:0033651 oboInOwl:hasExactSynonym "MC4DN16" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030498 oboInOwl:hasExactSynonym "IMD92" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +GO:0031947 oboInOwl:hasExactSynonym "down regulation of glucocorticoid biosynthetic process" +GO:0031947 oboInOwl:hasExactSynonym "down-regulation of glucocorticoid biosynthetic process" +GO:0031947 oboInOwl:hasExactSynonym "downregulation of glucocorticoid biosynthetic process" MONDO:0016241 oboInOwl:hasExactSynonym "pediatric alternating hemiplegia" MONDO:0016241 oboInOwl:hasExactSynonym "adrenal hypoplasia congenita" MONDO:0016241 oboInOwl:hasExactSynonym "AHC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -141980,9 +143468,6 @@ MONDO:0012289 oboInOwl:hasExactSynonym "myofibrillar myopathy 5" MONDO:0012289 oboInOwl:hasExactSynonym "FLNC myofibrillar myopathy (disease)" MONDO:0012289 oboInOwl:hasExactSynonym "myofibrillar myopathy (disease) caused by mutation in FLNC" MONDO:0012289 oboInOwl:hasExactSynonym "filaminopathy" -GO:0031947 oboInOwl:hasExactSynonym "down regulation of glucocorticoid biosynthetic process" -GO:0031947 oboInOwl:hasExactSynonym "down-regulation of glucocorticoid biosynthetic process" -GO:0031947 oboInOwl:hasExactSynonym "downregulation of glucocorticoid biosynthetic process" MONDO:0019758 oboInOwl:hasExactSynonym "middle interhemispheric variant of holoprosencephaly" MONDO:0019758 oboInOwl:hasExactSynonym "MIH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019758 oboInOwl:hasExactSynonym "MIHV" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -142036,6 +143521,7 @@ MONDO:0011304 oboInOwl:hasExactSynonym "familial cerebral cavernous malformation MONDO:0011304 oboInOwl:hasExactSynonym "CCM2 familial cerebral cavernous malformation" MONDO:0011304 oboInOwl:hasExactSynonym "cerebral cavernous malformation type 2" MONDO:0011304 oboInOwl:hasExactSynonym "cerebral cavernous malformation 2" +MONDO:0011304 oboInOwl:hasExactSynonym "cerebral cavernous malformations-2" MONDO:0011304 oboInOwl:hasExactSynonym "CCM2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011304 oboInOwl:hasExactSynonym "cerebral cavernous malformations type 2" HP:0011042 oboInOwl:hasExactSynonym "Abnormal blood K concentration" http://purl.obolibrary.org/obo/hp.obo#abbreviation @@ -142072,7 +143558,6 @@ MONDO:0002403 oboInOwl:hasExactSynonym "malignant synovial neoplasm" MONDO:0002403 oboInOwl:hasExactSynonym "malignant neoplasm of the synovium" MONDO:0002403 oboInOwl:hasExactSynonym "layer of synovial tissue cancer" MONDO:0002403 oboInOwl:hasExactSynonym "malignant tumor of synovium" -MONDO:0023655 oboInOwl:hasExactSynonym "IMD14B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0034404 oboInOwl:hasExactSynonym "nucleobase, nucleoside and nucleotide synthesis" GO:0034404 oboInOwl:hasExactSynonym "nucleobase, nucleoside and nucleotide anabolism" GO:0034404 oboInOwl:hasExactSynonym "nucleobase, nucleoside and nucleotide biosynthesis" @@ -142082,6 +143567,7 @@ MONDO:0011460 oboInOwl:hasExactSynonym "arrhythmogenic right ventricular dysplas MONDO:0011460 oboInOwl:hasExactSynonym "ARVC6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011460 oboInOwl:hasExactSynonym "arrhythmogenic right ventricular cardiomyopathy 6" MONDO:0011460 oboInOwl:hasExactSynonym "familial arrhythmogenic right ventricular dysplasia 6" +MONDO:0023655 oboInOwl:hasExactSynonym "IMD14B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012745 oboInOwl:hasExactSynonym "dilated cardiomyopathy type 1Z" MONDO:0012745 oboInOwl:hasExactSynonym "TNNC1 familial isolated dilated cardiomyopathy" MONDO:0012745 oboInOwl:hasExactSynonym "cardiomyopathy, dilated, type 1Z" @@ -142198,8 +143684,6 @@ CL:0000186 oboInOwl:hasExactSynonym "MFB" MONDO:0011306 oboInOwl:hasExactSynonym "muscular dystrophy, congenital, with cerebellar atrophy" MONDO:0060777 oboInOwl:hasExactSynonym "Cervical fibroepithelial polyp" MONDO:0060777 oboInOwl:hasExactSynonym "uterine cervix fibroepithelial polyp" -CHEBI:18085 oboInOwl:hasExactSynonym "glycosaminoglycan" -CHEBI:18085 oboInOwl:hasExactSynonym "Glycosaminoglycan" MONDO:0013506 oboInOwl:hasExactSynonym "schizophrenia type 16" MONDO:0013506 oboInOwl:hasExactSynonym "SCZD16" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013506 oboInOwl:hasExactSynonym "schizophrenia 16" @@ -142209,6 +143693,8 @@ MONDO:0007471 oboInOwl:hasExactSynonym "Malattia leventinese" MONDO:0007471 oboInOwl:hasExactSynonym "dominant drusen" MONDO:0007471 oboInOwl:hasExactSynonym "Doyne honeycomb degeneration of retina" MONDO:0007471 oboInOwl:hasExactSynonym "Doyne honeycomb retinal dystrophy" +CHEBI:18085 oboInOwl:hasExactSynonym "glycosaminoglycan" +CHEBI:18085 oboInOwl:hasExactSynonym "Glycosaminoglycan" MONDO:0008802 oboInOwl:hasExactSynonym "antithrombin, familial hemorrhagic diathesis due to" MONDO:0013895 oboInOwl:hasExactSynonym "RBPJ Adams-Oliver syndrome" MONDO:0013895 oboInOwl:hasExactSynonym "Adams-Oliver syndrome type 3" @@ -142218,16 +143704,19 @@ MONDO:0016085 oboInOwl:hasExactSynonym "bone fragility-craniosynostosis-proptosi MONDO:0019461 oboInOwl:hasExactSynonym "B-cell prolymphocytic leukemia" MONDO:0019461 oboInOwl:hasExactSynonym "B prolymphocytic leukemia" MONDO:0019461 oboInOwl:hasExactSynonym "B-PLL" -MONDO:0008199 oboInOwl:hasExactSynonym "late onset Parkinson disease" -MONDO:0008199 oboInOwl:hasExactSynonym "PD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008199 oboInOwl:hasExactSynonym "late onset Parkinson's disease" -MONDO:0008199 oboInOwl:hasExactSynonym "Parkinson disease, late-onset" MONDO:0008199 oboInOwl:hasExactSynonym "autosomal dominant late-onset Parkinson disease" -MONDO:0008199 oboInOwl:hasExactSynonym "late-onset Parkinson disease" MONDO:0008199 oboInOwl:hasExactSynonym "LOPD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008199 oboInOwl:hasExactSynonym "hereditary late-onset Parkinson disease" +MONDO:0008199 oboInOwl:hasExactSynonym "PD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008199 oboInOwl:hasExactSynonym "Parkinson disease, age of onset, modifier, Multifactorial" +MONDO:0008199 oboInOwl:hasExactSynonym "Parkinson disease, late-onset" MONDO:0008199 oboInOwl:hasExactSynonym "hereditary late onset Parkinson disease" +MONDO:0008199 oboInOwl:hasExactSynonym "late onset Parkinson's disease" +MONDO:0008199 oboInOwl:hasExactSynonym "Parkinson disease, late-onset, susceptibility to, Multifactorial" +MONDO:0008199 oboInOwl:hasExactSynonym "hereditary late-onset Parkinson disease" +MONDO:0008199 oboInOwl:hasExactSynonym "late-onset Parkinson disease" +MONDO:0008199 oboInOwl:hasExactSynonym "late onset Parkinson disease" MONDO:0008199 oboInOwl:hasExactSynonym "PARK" +MONDO:0008199 oboInOwl:hasExactSynonym "Parkinson disease, susceptibility to, Multifactorial" MONDO:0002970 oboInOwl:hasExactSynonym "ciliary body disease or disorder" MONDO:0002970 oboInOwl:hasExactSynonym "disease or disorder of ciliary body" MONDO:0002970 oboInOwl:hasExactSynonym "disorder of ciliary body" @@ -142246,6 +143735,7 @@ MONDO:0007354 oboInOwl:hasExactSynonym "coloboma of optic nerve" MONDO:0007354 oboInOwl:hasExactSynonym "coloboma of optic nerve (disease)" MONDO:0008418 oboInOwl:hasExactSynonym "scleroderma, familial progressive" MONDO:0100243 oboInOwl:hasExactSynonym "hereditary paroxysmal nocturnal hemoglobinuria" +MONDO:0010683 oboInOwl:hasExactSynonym "myotubular myopathy, X-linked, X-linked recessive" MONDO:0010683 oboInOwl:hasExactSynonym "XLMTM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010683 oboInOwl:hasExactSynonym "XLCNM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010683 oboInOwl:hasExactSynonym "MTM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -142308,7 +143798,9 @@ MONDO:0010566 oboInOwl:hasExactSynonym "COD1" http://purl.obolibrary.org/obo/mon MONDO:0010566 oboInOwl:hasExactSynonym "CORDX1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010566 oboInOwl:hasExactSynonym "X-linked cone dystrophy 1" MONDO:0010566 oboInOwl:hasExactSynonym "X-linked cone-rod dystrophy type 1" +MONDO:0010566 oboInOwl:hasExactSynonym "cone-rod dystrophy, X-linked, 1, X-linked recessive" MONDO:0010566 oboInOwl:hasExactSynonym "cone-rod dystrophy, X-linked, type 1" +MONDO:0020631 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 92" MONDO:0020631 oboInOwl:hasExactSynonym "epileptic encephalopathy, infantile or early childhood, 2" MONDO:0020631 oboInOwl:hasExactSynonym "IECEE2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000610 oboInOwl:hasExactSynonym "nonbacterial thrombotic endocarditis" @@ -142329,8 +143821,8 @@ MONDO:0021299 oboInOwl:hasExactSynonym "stage 0 extrahepatic bile duct cancer" MONDO:0021299 oboInOwl:hasExactSynonym "extrahepatic bile duct carcinoma in situ" MONDO:0001184 oboInOwl:hasExactSynonym "chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis" MONDO:0001184 oboInOwl:hasExactSynonym "rapidly progressive glomerulonephritis, chronic" -MONDO:0012057 oboInOwl:hasExactSynonym "legionnaire disease, susceptibility to" MONDO:0016493 oboInOwl:hasExactSynonym "variant of GBS" +MONDO:0012057 oboInOwl:hasExactSynonym "legionnaire disease, susceptibility to" MONDO:0004560 oboInOwl:hasExactSynonym "follicular infundibulum neoplasm" MONDO:0004560 oboInOwl:hasExactSynonym "basal cell hamartoma with follicular differentiation" MONDO:0004560 oboInOwl:hasExactSynonym "tumor of the follicular infundibulum" @@ -142348,6 +143840,7 @@ MONDO:0011170 oboInOwl:hasExactSynonym "LGMD2G" http://purl.obolibrary.org/obo/m MONDO:0011170 oboInOwl:hasExactSynonym "Tcap autosomal recessive limb-girdle muscular dystrophy" MONDO:0011170 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap" MONDO:0011170 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, type 2G" +MONDO:0011170 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal recessive 7" NCBITaxon:48796 oboInOwl:hasExactSynonym "Setaria" http://purl.obolibrary.org/obo/ncbitaxon#scientific_name MONDO:0600024 oboInOwl:hasExactSynonym "familial idiopathic myositis" MONDO:0003363 oboInOwl:hasExactSynonym "malignant neoplasm of the dermis" @@ -142381,11 +143874,14 @@ CL:0000810 oboInOwl:hasExactSynonym "CD4-positive, alpha-beta immature T lymphoc CL:0000810 oboInOwl:hasExactSynonym "CD4-positive, alpha-beta immature T-lymphocyte" CL:0000810 oboInOwl:hasExactSynonym "SP CD4 cell" CL:0000810 oboInOwl:hasExactSynonym "CD4-positive, alpha-beta immature T-cell" +MONDO:0010275 oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive" MONDO:0013498 oboInOwl:hasExactSynonym "SCZD15" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013498 oboInOwl:hasExactSynonym "schizophrenia 15" MONDO:0013498 oboInOwl:hasExactSynonym "schizophrenia type 15" MONDO:0009061 oboInOwl:hasExactSynonym "mucoviscidosis" MONDO:0009061 oboInOwl:hasExactSynonym "cystic fibrosis" +MONDO:0009061 oboInOwl:hasExactSynonym "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis" +MONDO:0009061 oboInOwl:hasExactSynonym "cystic fibrosis lung disease, modifier of" MONDO:0009061 oboInOwl:hasExactSynonym "CF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013327 oboInOwl:hasExactSynonym "primary hyperoxaluria type III" MONDO:0013327 oboInOwl:hasExactSynonym "primary hyperoxaluria caused by mutation in HOGA1" @@ -142417,6 +143913,7 @@ MONDO:0007321 oboInOwl:hasExactSynonym "chondrodysplasia punctata Sheffield type MONDO:0007321 oboInOwl:hasExactSynonym "chondrodysplasia punctata, Sheffield type" MONDO:0010462 oboInOwl:hasExactSynonym "X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance" MONDO:0010462 oboInOwl:hasExactSynonym "X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010462 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic, Chudley-Schwartz type, X-linked recessive" MONDO:0010462 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndromic, Chudley-Schwartz type" MONDO:0010462 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic, Chudley-Schwartz type" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010462 oboInOwl:hasExactSynonym "MRXSCS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -142429,16 +143926,21 @@ MONDO:0012315 oboInOwl:hasExactSynonym "distal monosomy type 10q" MONDO:0012315 oboInOwl:hasExactSynonym "chromosome 10q26 deletion syndrome" MONDO:0012315 oboInOwl:hasExactSynonym "telomeric deletion 10q" HP:0011138 oboInOwl:hasExactSynonym "Abnormal skin appendage" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0020728 oboInOwl:hasExactSynonym "hypouricemia, renal" MONDO:0011913 oboInOwl:hasExactSynonym "familial Alzheimer's disease, type 3" MONDO:0011913 oboInOwl:hasExactSynonym "Alzheimer's disease 3" +MONDO:0011913 oboInOwl:hasExactSynonym "Alzheimer disease, type 3, with spastic paraparesis and apraxia" MONDO:0011913 oboInOwl:hasExactSynonym "Alzheimer disease familial 3" MONDO:0011913 oboInOwl:hasExactSynonym "familial Alzheimer disease, type 3" +MONDO:0011913 oboInOwl:hasExactSynonym "Alzheimer disease, type 3" MONDO:0011913 oboInOwl:hasExactSynonym "PSEN1 early-onset autosomal dominant Alzheimer disease" MONDO:0011913 oboInOwl:hasExactSynonym "Alzheimer's disease type 3" MONDO:0011913 oboInOwl:hasExactSynonym "AD3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011913 oboInOwl:hasExactSynonym "Alzheimer disease, type 3, with spastic paraparesis and unusual plaques" MONDO:0011913 oboInOwl:hasExactSynonym "early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1" MONDO:0011913 oboInOwl:hasExactSynonym "Alzheimer disease 3, early onset" MONDO:0011913 oboInOwl:hasExactSynonym "Alzheimer disease 3" +MONDO:0011913 oboInOwl:hasExactSynonym "Alzheimer disease, protection against, due to APOE3-Christchurch" MONDO:0011913 oboInOwl:hasExactSynonym "Alzheimer disease type 3" GO:0050805 oboInOwl:hasExactSynonym "downregulation of synaptic transmission" GO:0050805 oboInOwl:hasExactSynonym "down-regulation of synaptic transmission" @@ -142476,6 +143978,7 @@ MONDO:0013047 oboInOwl:hasExactSynonym "glycogenosis due to lactate dehydrogenas CL:0002081 oboInOwl:hasExactSynonym "sheath cell of carotid body" MONDO:0013223 oboInOwl:hasExactSynonym "PAM16 spondylodysplastic dysplasia" MONDO:0013223 oboInOwl:hasExactSynonym "spondylodysplastic dysplasia caused by mutation in PAM16" +MONDO:0013223 oboInOwl:hasExactSynonym "spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type" NCBITaxon:11709 oboInOwl:hasExactSynonym "human immunodeficiency virus type 2 HIV-2" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:11709 oboInOwl:hasExactSynonym "Human immunodeficiency virus type 2" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:11709 oboInOwl:hasExactSynonym "HIV type 2" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name @@ -142485,6 +143988,7 @@ MONDO:0014360 oboInOwl:hasExactSynonym "EIEE21" http://purl.obolibrary.org/obo/m MONDO:0014360 oboInOwl:hasExactSynonym "NECAP1 early infantile epileptic encephalopathy" MONDO:0014360 oboInOwl:hasExactSynonym "DEE21" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014360 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 21" +MONDO:0014360 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 21" MONDO:0014360 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 21" MONDO:0014360 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in NECAP1" GO:0051495 oboInOwl:hasExactSynonym "upregulation of cytoskeleton organization" @@ -142555,8 +144059,8 @@ MONDO:0000212 oboInOwl:hasExactSynonym "hypercalcemia disease of infancy" MONDO:0000212 oboInOwl:hasExactSynonym "idiopathic infantile hypercalcemia" MONDO:0000212 oboInOwl:hasExactSynonym "autosomal recessive infantile hypercalcemia" MONDO:0000212 oboInOwl:hasExactSynonym "hypercalcemia, infantile" -MONDO:0000212 oboInOwl:hasExactSynonym "familial infantile hypercalcemia with suppressed intact parathyroid hormone" MONDO:0000212 oboInOwl:hasExactSynonym "hypercalcemia, infantile, autosomal recessive" +MONDO:0000212 oboInOwl:hasExactSynonym "familial infantile hypercalcemia with suppressed intact parathyroid hormone" MONDO:0000212 oboInOwl:hasExactSynonym "infantile onset hypercalcemia disease" MONDO:0000212 oboInOwl:hasExactSynonym "autosomal recessive hypercalcemia, infantile" MONDO:0000212 oboInOwl:hasExactSynonym "infantile hypercalcemia disease" @@ -142609,6 +144113,7 @@ MONDO:0001653 oboInOwl:hasExactSynonym "cancer of prepuce" MONDO:0001653 oboInOwl:hasExactSynonym "malignant tumor of foreskin" MONDO:0007556 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex with mottled pigmentation" MONDO:0007556 oboInOwl:hasExactSynonym "EBS-MP" +MONDO:0007556 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex 2F, with mottled pigmentation" NCBITaxon:11102 oboInOwl:hasExactSynonym "Hepatitis C virus group" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:11102 oboInOwl:hasExactSynonym "Hepatitis C-like viruses" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:11102 oboInOwl:hasExactSynonym "Hepatitis C viruses" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name @@ -142632,18 +144137,16 @@ MONDO:0003168 oboInOwl:hasExactSynonym "pilocytic astrocytoma of the cerebellum" MONDO:0003168 oboInOwl:hasExactSynonym "cerebellum pilocytic astrocytoma" MONDO:0003168 oboInOwl:hasExactSynonym "cerebellar pilocytic astrocytoma" MONDO:0003168 oboInOwl:hasExactSynonym "pilocytic astrocytoma of cerebellum" +MONDO:0005071 oboInOwl:hasExactSynonym "neurological disorder" +MONDO:0005071 oboInOwl:hasExactSynonym "nervous system disease" +MONDO:0005071 oboInOwl:hasExactSynonym "disease or disorder of nervous system" +MONDO:0005071 oboInOwl:hasExactSynonym "disease of nervous system" MONDO:0005071 oboInOwl:hasExactSynonym "nervous system disease or disorder" -MONDO:0005071 oboInOwl:hasExactSynonym "nervous system disorder" -MONDO:0005071 oboInOwl:hasExactSynonym "neurologic disease" -MONDO:0005071 oboInOwl:hasExactSynonym "neurological disease" MONDO:0005071 oboInOwl:hasExactSynonym "neurologic disorder" MONDO:0005071 oboInOwl:hasExactSynonym "disorder of nervous system" -MONDO:0005071 oboInOwl:hasExactSynonym "disease of nervous system" -MONDO:0005071 oboInOwl:hasExactSynonym "nervous system disease" -MONDO:0005071 oboInOwl:hasExactSynonym "disease or disorder of nervous system" -MONDO:0005071 oboInOwl:hasExactSynonym "neurological disorder" -MONDO:0018477 oboInOwl:hasExactSynonym "bilirubin encephalopathy" -MONDO:0018477 oboInOwl:hasExactSynonym "kernicterus" +MONDO:0005071 oboInOwl:hasExactSynonym "neurologic disease" +MONDO:0005071 oboInOwl:hasExactSynonym "neurological disease" +MONDO:0005071 oboInOwl:hasExactSynonym "nervous system disorder" MONDO:0002081 oboInOwl:hasExactSynonym "musculoskeletal system disorder" MONDO:0002081 oboInOwl:hasExactSynonym "musculoskeletal system disease" MONDO:0002081 oboInOwl:hasExactSynonym "musculoskeletal disease" @@ -142651,6 +144154,8 @@ MONDO:0002081 oboInOwl:hasExactSynonym "musculoskeletal system disease or disord MONDO:0002081 oboInOwl:hasExactSynonym "disease or disorder of musculoskeletal system" MONDO:0002081 oboInOwl:hasExactSynonym "disorder of musculoskeletal system" MONDO:0002081 oboInOwl:hasExactSynonym "disease of musculoskeletal system" +MONDO:0018477 oboInOwl:hasExactSynonym "bilirubin encephalopathy" +MONDO:0018477 oboInOwl:hasExactSynonym "kernicterus" MONDO:0021528 oboInOwl:hasExactSynonym "benign tumor of Male breast" MONDO:0021528 oboInOwl:hasExactSynonym "benign neoplasm of the Male breast" MONDO:0021528 oboInOwl:hasExactSynonym "benign Male breast neoplasm" @@ -142687,8 +144192,9 @@ MONDO:0006427 oboInOwl:hasExactSynonym "malignant spindle cell melanoma" MONDO:0014595 oboInOwl:hasExactSynonym "DEE30" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014595 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 30" MONDO:0014595 oboInOwl:hasExactSynonym "SIK1 early infantile epileptic encephalopathy" -MONDO:0014595 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in SIK1" MONDO:0014595 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 30" +MONDO:0014595 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in SIK1" +MONDO:0014595 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 30" MONDO:0014595 oboInOwl:hasExactSynonym "EIEE30" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0036293 oboInOwl:hasExactSynonym "response to lowered oxygen levels" MONDO:0012181 oboInOwl:hasExactSynonym "autosomal recessive spastic paraplegia type 27" @@ -142814,10 +144320,10 @@ MONDO:0019453 oboInOwl:hasExactSynonym "refractory cytopenia with multilineage d MONDO:0015389 oboInOwl:hasExactSynonym "accessory nostril" MONDO:0015389 oboInOwl:hasExactSynonym "supernumerary naris" CHEBI:33302 oboInOwl:hasExactSynonym "pnictogen molecular entity" +ECTO:4000024 oboInOwl:hasExactSynonym "exposure to increased amount in pressure of air" MONDO:0016463 oboInOwl:hasExactSynonym "syndrome associated with agammaglobulinemia" MONDO:0016463 oboInOwl:hasExactSynonym "syndromic hypogammaglobulinemia" MONDO:0016463 oboInOwl:hasExactSynonym "syndromic agammaglobulinemia" -ECTO:4000024 oboInOwl:hasExactSynonym "exposure to increased amount in pressure of air" MONDO:0009797 oboInOwl:hasExactSynonym "oroticaciduria" MONDO:0009797 oboInOwl:hasExactSynonym "orotidylic decarboxylase deficiency" MONDO:0009797 oboInOwl:hasExactSynonym "uridine monophosphate synthetase deficiency" @@ -142843,8 +144349,10 @@ MONDO:0008753 oboInOwl:hasExactSynonym "alkaptonuria" MONDO:0020843 oboInOwl:hasExactSynonym "conjunctival diphtheria" MONDO:0020843 oboInOwl:hasExactSynonym "pseudomembranous diphtheritic conjunctivitis" MONDO:0010607 oboInOwl:hasExactSynonym "ZIC3 visceral heterotaxy" +MONDO:0010607 oboInOwl:hasExactSynonym "congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive" MONDO:0010607 oboInOwl:hasExactSynonym "visceral heterotaxy caused by mutation in ZIC3" MONDO:0010607 oboInOwl:hasExactSynonym "heterotaxy, visceral, 1, X-linked" +MONDO:0010607 oboInOwl:hasExactSynonym "heterotaxy, visceral, 1, X-linked, X-linked recessive" MONDO:0016767 oboInOwl:hasExactSynonym "rare cutaneous LP" MONDO:0016767 oboInOwl:hasExactSynonym "rare cutaneous lichen planus" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0016650 oboInOwl:hasExactSynonym "paternal uniparental disomy of chromosome type 1" @@ -142908,6 +144416,7 @@ MONDO:0002625 oboInOwl:hasExactSynonym "Ewing's sarcoma, osseous" MONDO:0004248 oboInOwl:hasExactSynonym "infratentorial ependymoma" MONDO:0004248 oboInOwl:hasExactSynonym "pediatric infratentorial ependymoma" MONDO:0004248 oboInOwl:hasExactSynonym "childhood infratentorial ependymoma" +MONDO:0010471 oboInOwl:hasExactSynonym "Cornelia de Lange syndrome 5, X-linked dominant" MONDO:0010471 oboInOwl:hasExactSynonym "Cornelia De Lange syndrome type 5" MONDO:0010471 oboInOwl:hasExactSynonym "Cornelia de Lange syndrome 5" GO:1902338 oboInOwl:hasExactSynonym "down regulation of apoptotic process involved in morphogenesis" @@ -142916,15 +144425,17 @@ GO:1902338 oboInOwl:hasExactSynonym "downregulation of apoptotic process involve GO:1904538 oboInOwl:hasExactSynonym "regulation of glycolysis through fructose-6-phosphate" GO:0042221 oboInOwl:hasExactSynonym "response to chemical substance" GO:0042221 oboInOwl:hasExactSynonym "response to chemical stimulus" -HP:0002153 oboInOwl:hasExactSynonym "Elevated serum potassium levels" http://purl.obolibrary.org/obo/hp.obo#layperson GO:0045738 oboInOwl:hasExactSynonym "downregulation of DNA repair" GO:0045738 oboInOwl:hasExactSynonym "down-regulation of DNA repair" GO:0045738 oboInOwl:hasExactSynonym "down regulation of DNA repair" +HP:0002153 oboInOwl:hasExactSynonym "Elevated serum potassium levels" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0009693 oboInOwl:hasExactSynonym "myeloid neoplasm of plasma cell" MONDO:0009693 oboInOwl:hasExactSynonym "Kahler's disease" MONDO:0009693 oboInOwl:hasExactSynonym "Kahler disease" +MONDO:0009693 oboInOwl:hasExactSynonym "multiple myeloma, susceptibility to, Somatic mutation" MONDO:0009693 oboInOwl:hasExactSynonym "plasma cell myeloma" MONDO:0009693 oboInOwl:hasExactSynonym "medullary plasmacytoma" +MONDO:0009693 oboInOwl:hasExactSynonym "multiple myeloma, resistance to, Somatic mutation" MONDO:0009693 oboInOwl:hasExactSynonym "myeloma, multiple" MONDO:0009693 oboInOwl:hasExactSynonym "multiple myeloma/plasma cell myeloma" MONDO:0009693 oboInOwl:hasExactSynonym "myelomatosis" @@ -142969,9 +144480,9 @@ MONDO:0021221 oboInOwl:hasExactSynonym "tumor of the eighth cranial nerve" MONDO:0021221 oboInOwl:hasExactSynonym "neoplasm of eighth cranial nerve" MONDO:0021221 oboInOwl:hasExactSynonym "neoplasm of acoustic nerve" MONDO:0021221 oboInOwl:hasExactSynonym "eighth cranial nerve neoplasms" +MONDO:0021221 oboInOwl:hasExactSynonym "tumor of acoustic nerve" MONDO:0021221 oboInOwl:hasExactSynonym "cranial nerve eight neoplasms" MONDO:0021221 oboInOwl:hasExactSynonym "eighth cranial nerve neoplasm" -MONDO:0021221 oboInOwl:hasExactSynonym "tumor of acoustic nerve" MONDO:0021221 oboInOwl:hasExactSynonym "vestibulocochlear nerve tumor" MONDO:0021221 oboInOwl:hasExactSynonym "neoplasm of the acoustic nerve" MONDO:0021221 oboInOwl:hasExactSynonym "acoustic nerve tumor" @@ -142993,6 +144504,7 @@ MONDO:0018516 oboInOwl:hasExactSynonym "anal canal epithelial neoplasm" MONDO:0021635 oboInOwl:hasExactSynonym "disorder of neural crest cell development" MONDO:0021635 oboInOwl:hasExactSynonym "disorder of neural crest development" MONDO:0021635 oboInOwl:hasExactSynonym "neural crest cell development disease" +MONDO:0033652 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 17" MONDO:0033652 oboInOwl:hasExactSynonym "MC4DN17" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016242 oboInOwl:hasExactSynonym "Hb-C disease" MONDO:0019759 oboInOwl:hasExactSynonym "epispadias (disease)" @@ -143036,6 +144548,7 @@ UBERON:0000066 oboInOwl:hasExactSynonym "juvenile-adult stage" MONDO:0100308 oboInOwl:hasExactSynonym "ataxic disorder" MONDO:0014634 oboInOwl:hasExactSynonym "46,XY sex reversal 10" MONDO:0014634 oboInOwl:hasExactSynonym "46,XY Sex reversal type 10" +MONDO:0014634 oboInOwl:hasExactSynonym "46XY sex reversal 10" MONDO:0010020 oboInOwl:hasExactSynonym "Berardinelli-Seip congenital lipodystrophy type 2" MONDO:0010020 oboInOwl:hasExactSynonym "CGL2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010020 oboInOwl:hasExactSynonym "Brunzell syndrome BSCL2-related" @@ -143056,8 +144569,8 @@ CL:0002366 oboInOwl:hasExactSynonym "myometrium smooth muscle cell" MONDO:0013622 oboInOwl:hasExactSynonym "ITGA2 inherited bleeding disorder, platelet-type" MONDO:0013622 oboInOwl:hasExactSynonym "collagen platelet receptor deficiency" MONDO:0013622 oboInOwl:hasExactSynonym "BDPLT9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0013622 oboInOwl:hasExactSynonym "inherited bleeding disorder, platelet-type caused by mutation in ITGA2" MONDO:0013622 oboInOwl:hasExactSynonym "GP Ia deficiency" +MONDO:0013622 oboInOwl:hasExactSynonym "inherited bleeding disorder, platelet-type caused by mutation in ITGA2" MONDO:0013622 oboInOwl:hasExactSynonym "glycoprotein Ia deficiency" MONDO:0005238 oboInOwl:hasExactSynonym "cellular myxoid liposarcoma" MONDO:0005238 oboInOwl:hasExactSynonym "round cell liposarcoma (morphologic abnormality)" @@ -143067,6 +144580,7 @@ MONDO:0011461 oboInOwl:hasExactSynonym "generalized epilepsy with febrile seizur MONDO:0011461 oboInOwl:hasExactSynonym "SCN1A febrile seizures, familial" MONDO:0020008 oboInOwl:hasExactSynonym "rare immune system disease" MONDO:0008614 oboInOwl:hasExactSynonym "ST3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008614 oboInOwl:hasExactSynonym "cervical carcinoma" MONDO:0008614 oboInOwl:hasExactSynonym "suppressor of tumorigenicity 3" MONDO:0005995 oboInOwl:hasExactSynonym "Trichostrongylus disease or disorder" MONDO:0005995 oboInOwl:hasExactSynonym "infection by Trichostrongylus species" @@ -143078,6 +144592,7 @@ MONDO:0014855 oboInOwl:hasExactSynonym "Gnb1 autosomal dominant non-syndromic in MONDO:0014855 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant type 42" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014855 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant 42" MONDO:0014855 oboInOwl:hasExactSynonym "autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1" +MONDO:0014855 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal dominant 42" MONDO:0014855 oboInOwl:hasExactSynonym "GNB1 autosomal dominant non-syndromic intellectual disability" MONDO:0014855 oboInOwl:hasExactSynonym "MRD42" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014855 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant 42" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -143102,6 +144617,7 @@ MONDO:0021509 oboInOwl:hasExactSynonym "myocardium benign neoplasm" MONDO:0021509 oboInOwl:hasExactSynonym "benign myocardial neoplasm" MONDO:0021509 oboInOwl:hasExactSynonym "benign tumor of the myocardium" MONDO:0011305 oboInOwl:hasExactSynonym "cerebral cavernous malformation type 3" +MONDO:0011305 oboInOwl:hasExactSynonym "cerebral cavernous malformations-3" MONDO:0011305 oboInOwl:hasExactSynonym "cerebral cavernous malformation 3" MONDO:0011305 oboInOwl:hasExactSynonym "familial cerebral cavernous malformation caused by mutation in PDCD10" MONDO:0011305 oboInOwl:hasExactSynonym "PDCD10 familial cerebral cavernous malformation" @@ -143154,27 +144670,27 @@ GO:0043436 oboInOwl:hasExactSynonym "keto acid metabolism" MONDO:0013915 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism caused by mutation in KISS1" MONDO:0013915 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 13 with or without anosmia" MONDO:0013915 oboInOwl:hasExactSynonym "KISS1 hypogonadotropic hypogonadism" -MONDO:0004658 oboInOwl:hasExactSynonym "non-invasive carcinoma of breast" -MONDO:0004658 oboInOwl:hasExactSynonym "non-invasive carcinoma of the breast" -MONDO:0004658 oboInOwl:hasExactSynonym "stage 0 breast cancer aJCC v7" -MONDO:0004658 oboInOwl:hasExactSynonym "stage 0 breast cancer aJCC v6 and v7" MONDO:0004658 oboInOwl:hasExactSynonym "breast in situ carcinoma" +MONDO:0004658 oboInOwl:hasExactSynonym "breast cancer stage 0" +MONDO:0004658 oboInOwl:hasExactSynonym "carcinoma in situ of breast" +MONDO:0004658 oboInOwl:hasExactSynonym "stage 0 breast carcinoma in situ" MONDO:0004658 oboInOwl:hasExactSynonym "non-infiltrating carcinoma of the breast" +MONDO:0004658 oboInOwl:hasExactSynonym "non-infiltrating breast carcinoma" MONDO:0004658 oboInOwl:hasExactSynonym "stage 0 carcinoma of breast" -MONDO:0004658 oboInOwl:hasExactSynonym "stage 0 breast carcinoma" -MONDO:0004658 oboInOwl:hasExactSynonym "stage 0 breast cancer" MONDO:0004658 oboInOwl:hasExactSynonym "carcinoma in situ of the breast" -MONDO:0004658 oboInOwl:hasExactSynonym "stage 0 carcinoma of the breast" -MONDO:0004658 oboInOwl:hasExactSynonym "non-invasive breast carcinoma" -MONDO:0004658 oboInOwl:hasExactSynonym "non-infiltrating carcinoma of breast" MONDO:0004658 oboInOwl:hasExactSynonym "stage 0 breast cancer aJCC v6" -MONDO:0004658 oboInOwl:hasExactSynonym "stage 0 breast carcinoma in situ" -MONDO:0004658 oboInOwl:hasExactSynonym "carcinoma in situ of breast" -MONDO:0004658 oboInOwl:hasExactSynonym "breast cancer stage 0" +MONDO:0004658 oboInOwl:hasExactSynonym "stage 0 carcinoma of the breast" +MONDO:0004658 oboInOwl:hasExactSynonym "non-invasive carcinoma of the breast" +MONDO:0004658 oboInOwl:hasExactSynonym "stage 0 breast cancer aJCC v6 and v7" MONDO:0004658 oboInOwl:hasExactSynonym "in situ breast cancer" +MONDO:0004658 oboInOwl:hasExactSynonym "stage 0 breast cancer aJCC v7" +MONDO:0004658 oboInOwl:hasExactSynonym "non-invasive carcinoma of breast" MONDO:0004658 oboInOwl:hasExactSynonym "breast cancer in situ" -MONDO:0004658 oboInOwl:hasExactSynonym "non-infiltrating breast carcinoma" +MONDO:0004658 oboInOwl:hasExactSynonym "stage 0 breast carcinoma" +MONDO:0004658 oboInOwl:hasExactSynonym "stage 0 breast cancer" MONDO:0004658 oboInOwl:hasExactSynonym "breast carcinoma in situ" +MONDO:0004658 oboInOwl:hasExactSynonym "non-infiltrating carcinoma of breast" +MONDO:0004658 oboInOwl:hasExactSynonym "non-invasive breast carcinoma" MONDO:0004834 oboInOwl:hasExactSynonym "atypical decubital fibroplasia" GO:1902117 oboInOwl:hasExactSynonym "up-regulation of organelle assembly" GO:1902117 oboInOwl:hasExactSynonym "up regulation of organelle assembly" @@ -143202,8 +144718,8 @@ MONDO:0003669 oboInOwl:hasExactSynonym "testicular seminoma" MONDO:0003669 oboInOwl:hasExactSynonym "seminoma of the testis" MONDO:0003669 oboInOwl:hasExactSynonym "testicular seminoma Pure" MONDO:0003669 oboInOwl:hasExactSynonym "seminomatous germ cell tumor of testis" -MONDO:0003669 oboInOwl:hasExactSynonym "testicular seminoma (disease)" MONDO:0003669 oboInOwl:hasExactSynonym "seminoma testis" +MONDO:0003669 oboInOwl:hasExactSynonym "testicular seminoma (disease)" MONDO:0003669 oboInOwl:hasExactSynonym "seminoma of testis" MONDO:0003669 oboInOwl:hasExactSynonym "testis seminoma" MONDO:0002899 oboInOwl:hasExactSynonym "differentiating neuroblastoma" @@ -143317,6 +144833,7 @@ MONDO:0017778 oboInOwl:hasExactSynonym "LI" http://purl.obolibrary.org/obo/mondo MONDO:0011240 oboInOwl:hasExactSynonym "MCMTC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011240 oboInOwl:hasExactSynonym "macrocephaly-capillary malformation syndrome" MONDO:0011240 oboInOwl:hasExactSynonym "MCM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011240 oboInOwl:hasExactSynonym "megalencephaly-capillary malformation-polymicrogyria syndrome, somatic" MONDO:0011240 oboInOwl:hasExactSynonym "megalencephaly-capillary malformation-polymicrogyria syndrome" MONDO:0011240 oboInOwl:hasExactSynonym "macrocephaly-cutis marmorata telangiectatica congenita syndrome" MONDO:0011240 oboInOwl:hasExactSynonym "MCAP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -143324,6 +144841,7 @@ MONDO:0011240 oboInOwl:hasExactSynonym "megalencephaly-capillary malformation sy MONDO:0011240 oboInOwl:hasExactSynonym "megalencephaly-cutis marmorata telangiectatica congenita syndrome" MONDO:0010684 oboInOwl:hasExactSynonym "XMEA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010684 oboInOwl:hasExactSynonym "vacuolar myopathy" +MONDO:0010684 oboInOwl:hasExactSynonym "myopathy, X-linked, with excessive autophagy, X-linked recessive" MONDO:0003561 oboInOwl:hasExactSynonym "giant cell malignant fibrous histiocytoma" MONDO:0003561 oboInOwl:hasExactSynonym "malignant giant cell neoplasm of soft parts" MONDO:0003561 oboInOwl:hasExactSynonym "undifferentiated pleomorphic sarcoma with osteoclast-like giant cells" @@ -143331,6 +144849,8 @@ MONDO:0003561 oboInOwl:hasExactSynonym "giant cell fibrous histiocytoma" MONDO:0003561 oboInOwl:hasExactSynonym "malignant giant cell tumor of soft parts (morphologic abnormality)" MONDO:0003561 oboInOwl:hasExactSynonym "malignant giant cell tumor of soft parts" MONDO:0003561 oboInOwl:hasExactSynonym "malignant Osteoclastoma" +MONDO:0044255 oboInOwl:hasExactSynonym "skin/hair/eye pigmentation 1, blue/nonblue eyes" +MONDO:0044255 oboInOwl:hasExactSynonym "skin/hair/eye pigmentation 1, blond/brown hair" MONDO:0015607 oboInOwl:hasExactSynonym "Male sterility due to chromosome Y deletion" CL:0000187 oboInOwl:hasExactSynonym "myocyte" CL:0000187 oboInOwl:hasExactSynonym "muscle fiber" @@ -143341,6 +144861,7 @@ MONDO:0018382 oboInOwl:hasExactSynonym "SCFE" http://purl.obolibrary.org/obo/mon MONDO:0018382 oboInOwl:hasExactSynonym "SufE" MONDO:0018382 oboInOwl:hasExactSynonym "slipped upper femoral epiphysis" MONDO:0013507 oboInOwl:hasExactSynonym "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3" +MONDO:0013507 oboInOwl:hasExactSynonym "chronic granulomatous disease 3, autosomal recessive" MONDO:0007472 oboInOwl:hasExactSynonym "drusen of Bruch membrane" MONDO:0007472 oboInOwl:hasExactSynonym "basal laminar drusen" MONDO:0007472 oboInOwl:hasExactSynonym "early adult-onset grouped drusen" @@ -143385,6 +144906,7 @@ MONDO:0011549 oboInOwl:hasExactSynonym "HYPT1" http://purl.obolibrary.org/obo/mo MONDO:0004132 oboInOwl:hasExactSynonym "squamous cell carcinoma of the anal canal" MONDO:0004132 oboInOwl:hasExactSynonym "anal canal squamous cell carcinoma" MONDO:0008419 oboInOwl:hasExactSynonym "IS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008419 oboInOwl:hasExactSynonym "scoliosis, idiopathic 1" MONDO:0008419 oboInOwl:hasExactSynonym "scoliosis, isolated, susceptibility to, 1" MONDO:0043349 oboInOwl:hasExactSynonym "Masson's pseudosarcoma" MONDO:0043349 oboInOwl:hasExactSynonym "Masson's vegetant hemangioma" @@ -143434,6 +144956,7 @@ MONDO:0000928 oboInOwl:hasExactSynonym "melanoma of the eyelid" MONDO:0000928 oboInOwl:hasExactSynonym "melanoma (disease) of eyelid" MONDO:0000928 oboInOwl:hasExactSynonym "malignant eyelid melanoma" MONDO:0014886 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive 55" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0014886 oboInOwl:hasExactSynonym "neurodevelopmental disorder with microcephaly and gray sclerae" MONDO:0014886 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 55" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014886 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 55" MONDO:0014886 oboInOwl:hasExactSynonym "MRT55" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -143455,6 +144978,8 @@ MONDO:0007064 oboInOwl:hasExactSynonym "ADA deficiency" MONDO:0007064 oboInOwl:hasExactSynonym "adenosine deaminase deficient severe combined immunodeficiency" MONDO:0007064 oboInOwl:hasExactSynonym "SCID due to ADA deficiency, early-onset" MONDO:0007064 oboInOwl:hasExactSynonym "ADA-SCID" +MONDO:0007064 oboInOwl:hasExactSynonym "adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism" +MONDO:0007064 oboInOwl:hasExactSynonym "severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism" MONDO:0007064 oboInOwl:hasExactSynonym "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency" MONDO:0016494 oboInOwl:hasExactSynonym "regional variant of GBS" MONDO:0012058 oboInOwl:hasExactSynonym "myocardial infarction, susceptibility to, type 2" @@ -143499,6 +145024,7 @@ MONDO:0018959 oboInOwl:hasExactSynonym "PAM" http://purl.obolibrary.org/obo/mond MONDO:0018959 oboInOwl:hasExactSynonym "Potassium aggravated myotonia" MONDO:0018959 oboInOwl:hasExactSynonym "K-aggravated myotonia" MONDO:0018959 oboInOwl:hasExactSynonym "K+-aggravated myotonia" +MONDO:0018959 oboInOwl:hasExactSynonym "myotonia congenita, atypical, acetazolamide-responsive" CL:0000811 oboInOwl:hasExactSynonym "SP CD8 cell" CL:0000811 oboInOwl:hasExactSynonym "CD8-positive, alpha-beta immature T-lymphocyte" CL:0000811 oboInOwl:hasExactSynonym "CD8-positive, alpha-beta immature T-cell" @@ -143527,6 +145053,7 @@ MONDO:0020729 oboInOwl:hasExactSynonym "autosomal recessive agammaglobulinemia 1 MONDO:0003730 oboInOwl:hasExactSynonym "aleukemic leukemia" MONDO:0011914 oboInOwl:hasExactSynonym "hypotrichosis-lymphedema-telangiectasia syndrome" MONDO:0014361 oboInOwl:hasExactSynonym "MRD26" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0014361 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal dominant 26" MONDO:0014361 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant type 26" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014361 oboInOwl:hasExactSynonym "ASD due to AUTS2 deficiency" MONDO:0014361 oboInOwl:hasExactSynonym "autism spectrum disorder due to AUTS2 deficiency" @@ -143604,6 +145131,7 @@ MONDO:0011266 oboInOwl:hasExactSynonym "myotonic dystrophy type 2" MONDO:0011266 oboInOwl:hasExactSynonym "CNBP myotonic dystrophy" MONDO:0011266 oboInOwl:hasExactSynonym "myotonic dystrophy caused by mutation in CNBP" MONDO:0014489 oboInOwl:hasExactSynonym "LGMD due to POMK deficiency" +MONDO:0008552 oboInOwl:hasExactSynonym "bleeding disorder, platelet-type, 16, autosomal dominant" MONDO:0008552 oboInOwl:hasExactSynonym "platelet-type bleeding disorder 16" MONDO:0008552 oboInOwl:hasExactSynonym "autosomal dominant thrombasthenia of Glanzmann and Naegeli" MONDO:0008552 oboInOwl:hasExactSynonym "autosomal dominant Glanzmann thrombasthenia" @@ -143687,12 +145215,12 @@ MONDO:0005800 oboInOwl:hasExactSynonym "blepharitis of eyelid gland" MONDO:0005800 oboInOwl:hasExactSynonym "boil of eyelid" MONDO:0005800 oboInOwl:hasExactSynonym "eyelid gland blepharitis" MONDO:0005800 oboInOwl:hasExactSynonym "Stye" -SO:0001267 oboInOwl:hasExactSynonym "snoRNA gene" MONDO:0002634 oboInOwl:hasExactSynonym "bone liposarcoma" MONDO:0002634 oboInOwl:hasExactSynonym "liposarcoma of the bone" MONDO:0002634 oboInOwl:hasExactSynonym "bone tissue liposarcoma" MONDO:0002634 oboInOwl:hasExactSynonym "liposarcoma of bone tissue" MONDO:0002634 oboInOwl:hasExactSynonym "liposarcoma of bone" +SO:0001267 oboInOwl:hasExactSynonym "snoRNA gene" MONDO:0019675 oboInOwl:hasExactSynonym "SEMD-JL" MONDO:0019675 oboInOwl:hasExactSynonym "SEMDJL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019675 oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia with joint laxity" @@ -143714,11 +145242,11 @@ MONDO:0000642 oboInOwl:hasExactSynonym "brain meningioma (disease)" MONDO:0007799 oboInOwl:hasExactSynonym "hypophosphatemic bone disease" MONDO:0024280 oboInOwl:hasExactSynonym "polyarticular arthritis" MONDO:0024280 oboInOwl:hasExactSynonym "polyarthritis" -HP:0004308 oboInOwl:hasExactSynonym "Ventricular arrhythmias" -MONDO:0009355 oboInOwl:hasExactSynonym "Hooft disease" MONDO:0030013 oboInOwl:hasExactSynonym "immunodeficiency 66" MONDO:0030013 oboInOwl:hasExactSynonym "IMMUNODEFICIENCY 66" MONDO:0030013 oboInOwl:hasExactSynonym "IMD66" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +HP:0004308 oboInOwl:hasExactSynonym "Ventricular arrhythmias" +MONDO:0009355 oboInOwl:hasExactSynonym "Hooft disease" MONDO:0015951 oboInOwl:hasExactSynonym "genetic photosensitivity" MONDO:0015951 oboInOwl:hasExactSynonym "genetic skin photosensitivity" MONDO:0044723 oboInOwl:hasExactSynonym "MGCA8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -143788,15 +145316,16 @@ MONDO:0030840 oboInOwl:hasExactSynonym "MMRCS2" http://purl.obolibrary.org/obo/m GO:1904689 oboInOwl:hasExactSynonym "downregulation of cytoplasmic translational initiation" GO:1904689 oboInOwl:hasExactSynonym "down-regulation of cytoplasmic translational initiation" GO:1904689 oboInOwl:hasExactSynonym "down regulation of cytoplasmic translational initiation" +MONDO:0009251 oboInOwl:hasExactSynonym "fructose-1,6-diphosphatase deficiency" MONDO:0009251 oboInOwl:hasExactSynonym "fructose 1 phosphate aldolase deficiency" MONDO:0009251 oboInOwl:hasExactSynonym "fructose-1,6-bisphosphatase deficiency" -MONDO:0009251 oboInOwl:hasExactSynonym "fructose-1,6-diphosphatase deficiency" MONDO:0011431 oboInOwl:hasExactSynonym "MASS syndrome" MONDO:0011431 oboInOwl:hasExactSynonym "MASS phenotype" MONDO:0010725 oboInOwl:hasExactSynonym "retinoschisis, X-linked" MONDO:0010725 oboInOwl:hasExactSynonym "XLRS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010725 oboInOwl:hasExactSynonym "juvenile X-linked retinoschisis" MONDO:0010725 oboInOwl:hasExactSynonym "X-linked juvenile retinoschisis" +MONDO:0010725 oboInOwl:hasExactSynonym "retinoschisis, X-linked recessive" MONDO:0010725 oboInOwl:hasExactSynonym "X-linked retinoschisis" MONDO:0010725 oboInOwl:hasExactSynonym "X-linked juvenile retinoschisis type 1" GO:0006066 oboInOwl:hasExactSynonym "alcohol metabolism" @@ -143812,6 +145341,7 @@ MONDO:0019454 oboInOwl:hasExactSynonym "MDS-EB" MONDO:0019454 oboInOwl:hasExactSynonym "refractory Anemia with an Excess of blasts" MONDO:0019107 oboInOwl:hasExactSynonym "Rh deficiency syndrome" MONDO:0019107 oboInOwl:hasExactSynonym "Rh-null syndrome" +MONDO:0019107 oboInOwl:hasExactSynonym "anemia, hemolytic, Rh-null, regulator type" MONDO:0017020 oboInOwl:hasExactSynonym "secondary ILD specific to childhood associated with a systemic disease" GO:0042582 oboInOwl:hasExactSynonym "primary granule" MONDO:0021634 oboInOwl:hasExactSynonym "skin epithelium neoplasm" @@ -143825,6 +145355,7 @@ MONDO:0016945 oboInOwl:hasExactSynonym "partial duplication of chromosome 8p" MONDO:0016945 oboInOwl:hasExactSynonym "partial trisomy of the short arm of chromosome 8" CHEBI:26833 oboInOwl:hasExactSynonym "sulfur" MONDO:0009134 oboInOwl:hasExactSynonym "hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)" +MONDO:0009134 oboInOwl:hasExactSynonym "dyserythropoietic anemia, congenital, type II" MONDO:0009134 oboInOwl:hasExactSynonym "SEC23B-CDG" MONDO:0009134 oboInOwl:hasExactSynonym "CDA type II" MONDO:0009134 oboInOwl:hasExactSynonym "CDA type 2" @@ -143835,8 +145366,10 @@ GO:0045936 oboInOwl:hasExactSynonym "down-regulation of phosphate metabolic proc GO:0045936 oboInOwl:hasExactSynonym "negative regulation of phosphate metabolism" GO:0045936 oboInOwl:hasExactSynonym "down regulation of phosphate metabolic process" GO:0045936 oboInOwl:hasExactSynonym "downregulation of phosphate metabolic process" +MONDO:0012872 oboInOwl:hasExactSynonym "thrombophilia, familial, due to decreased release of PLAT" MONDO:0012872 oboInOwl:hasExactSynonym "thrombophilia, familial, due to decreased release of tissue plasminogen activator" MONDO:0012872 oboInOwl:hasExactSynonym "THPH9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012872 oboInOwl:hasExactSynonym "hyperfibrinolysis, familial, due to increased release of plat" MONDO:0010608 oboInOwl:hasExactSynonym "Hhhh syndrome" NCBITaxon:2585030 oboInOwl:hasExactSynonym "unclassified RNA viruses" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name MONDO:0019525 oboInOwl:hasExactSynonym "tetra X" @@ -143941,6 +145474,7 @@ MONDO:0021222 oboInOwl:hasExactSynonym "tumor of the lacrimal gland" MONDO:0021222 oboInOwl:hasExactSynonym "tumor of lacrimal gland" MONDO:0021222 oboInOwl:hasExactSynonym "neoplasm of lacrimal gland" MONDO:0021222 oboInOwl:hasExactSynonym "lacrimal gland tumor" +MONDO:0054837 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal dominant 57" MONDO:0054837 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant 57" MONDO:0011210 oboInOwl:hasExactSynonym "mitochondrial intermembrane space protein Tim12, yeast, homolog of" MONDO:0014433 oboInOwl:hasExactSynonym "BBS4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -143992,6 +145526,7 @@ MONDO:0010472 oboInOwl:hasExactSynonym "EIEE36" http://purl.obolibrary.org/obo/m MONDO:0010472 oboInOwl:hasExactSynonym "CDG syndrome type Is" MONDO:0010472 oboInOwl:hasExactSynonym "ALG13-CDG" MONDO:0010472 oboInOwl:hasExactSynonym "CDG-Is" +MONDO:0010472 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 36" MONDO:0010472 oboInOwl:hasExactSynonym "DEE36" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010472 oboInOwl:hasExactSynonym "CDG1S" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010472 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type Is" @@ -144028,6 +145563,7 @@ MONDO:0100309 oboInOwl:hasExactSynonym "rare hereditary ataxia" MONDO:0014166 oboInOwl:hasExactSynonym "paroxysmal nocturnal hemoglobinuria 2" MONDO:0014166 oboInOwl:hasExactSynonym "PIGT paroxysmal nocturnal hemoglobinuria" MONDO:0014166 oboInOwl:hasExactSynonym "paroxysmal nocturnal hemoglobinuria type 2" +MONDO:0014166 oboInOwl:hasExactSynonym "paroxysmal nocturnal hemoglobinuria 2, autosomal dominant, somatic mutation" MONDO:0014166 oboInOwl:hasExactSynonym "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT" MONDO:0030913 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant 48" MONDO:0010693 oboInOwl:hasExactSynonym "congenital nystagmus caused by mutation in FRMD7" @@ -144040,10 +145576,12 @@ MONDO:0021636 oboInOwl:hasExactSynonym "astrocytoma, no ICD-O subtype" MONDO:0021636 oboInOwl:hasExactSynonym "astrocytic neoplasm" GO:0019400 oboInOwl:hasExactSynonym "alditol metabolism" CL:0001082 oboInOwl:hasExactSynonym "immature ILC" +MONDO:0033653 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 18" MONDO:0033653 oboInOwl:hasExactSynonym "MC4DN18" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016243 oboInOwl:hasExactSynonym "Hb-E disease" MONDO:0016243 oboInOwl:hasExactSynonym "hemoglobin E disease" MONDO:0031446 oboInOwl:hasExactSynonym "FHCA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014003 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 15" MONDO:0014003 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 15" MONDO:0014003 oboInOwl:hasExactSynonym "EIEE15" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014003 oboInOwl:hasExactSynonym "DEE15" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -144053,6 +145591,7 @@ GO:1901020 oboInOwl:hasExactSynonym "downregulation of calcium ion transmembrane GO:1901020 oboInOwl:hasExactSynonym "down-regulation of calcium ion transmembrane transporter activity" GO:1901020 oboInOwl:hasExactSynonym "down regulation of calcium ion transmembrane transporter activity" MONDO:0018422 oboInOwl:hasExactSynonym "SPG70" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007481 oboInOwl:hasExactSynonym "Leri-Weill dyschondrosteosis, Pseudoautosomal dominant" MONDO:0007481 oboInOwl:hasExactSynonym "Leri-Weill dyschondrosteosis" MONDO:0007481 oboInOwl:hasExactSynonym "Leri-Weill syndrome" MONDO:0007481 oboInOwl:hasExactSynonym "LC)ri-Weill syndrome" @@ -144082,6 +145621,7 @@ MONDO:0013244 oboInOwl:hasExactSynonym "brachydactyly type E caused by mutation MONDO:0013244 oboInOwl:hasExactSynonym "PTHLH brachydactyly type E" MONDO:0025397 oboInOwl:hasExactSynonym "canine distemper" MONDO:0012221 oboInOwl:hasExactSynonym "Schindler disease type 1" +MONDO:0012221 oboInOwl:hasExactSynonym "Schindler disease, type III" MONDO:0012221 oboInOwl:hasExactSynonym "NAGA deficiency type 1" MONDO:0011932 oboInOwl:hasExactSynonym "hypotrichosis type 6" MONDO:0011932 oboInOwl:hasExactSynonym "monilethrix-like hypotrichosis" @@ -144118,15 +145658,15 @@ MONDO:0002229 oboInOwl:hasExactSynonym "ovarian surface epithelial-stromal tumor MONDO:0002229 oboInOwl:hasExactSynonym "ovary epithelial neoplasm" MONDO:0001459 oboInOwl:hasExactSynonym "radial nerve peripheral neuropathy" MONDO:0001459 oboInOwl:hasExactSynonym "peripheral neuropathy of radial nerve" +NCBITaxon:6939 oboInOwl:hasExactSynonym "scale ticks" http://purl.obolibrary.org/obo/ncbitaxon#common_name +NCBITaxon:6939 oboInOwl:hasExactSynonym "hard ticks" http://purl.obolibrary.org/obo/ncbitaxon#common_name +NCBITaxon:6939 oboInOwl:hasExactSynonym "hardbacked ticks" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name MONDO:0011462 oboInOwl:hasExactSynonym "fra" MONDO:0011462 oboInOwl:hasExactSynonym "familial recurrent arthritis" MONDO:0011462 oboInOwl:hasExactSynonym "papa" MONDO:0011462 oboInOwl:hasExactSynonym "papa syndrome" MONDO:0023657 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant 65" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0023657 oboInOwl:hasExactSynonym "MRD65" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -NCBITaxon:6939 oboInOwl:hasExactSynonym "scale ticks" http://purl.obolibrary.org/obo/ncbitaxon#common_name -NCBITaxon:6939 oboInOwl:hasExactSynonym "hard ticks" http://purl.obolibrary.org/obo/ncbitaxon#common_name -NCBITaxon:6939 oboInOwl:hasExactSynonym "hardbacked ticks" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name MONDO:0016651 oboInOwl:hasExactSynonym "UPD(1)mat" MONDO:0016651 oboInOwl:hasExactSynonym "maternal uniparental disomy of chromosome type 1" MONDO:0018851 oboInOwl:hasExactSynonym "multiple keratoacanthoma" @@ -144161,8 +145701,10 @@ MONDO:0000447 oboInOwl:hasExactSynonym "isolated polycystic liver disease" MONDO:0006617 oboInOwl:hasExactSynonym "vesiculobullous skin disease" MONDO:0021001 oboInOwl:hasExactSynonym "C282Y/C282Y hemochromatosis" MONDO:0021001 oboInOwl:hasExactSynonym "symptomatic form of classic hemochromatosis" +MONDO:0021001 oboInOwl:hasExactSynonym "hemochromatosis" MONDO:0021001 oboInOwl:hasExactSynonym "classic hemochromatosis" MONDO:0021001 oboInOwl:hasExactSynonym "HFE-related hemochromatosis" +MONDO:0021001 oboInOwl:hasExactSynonym "hfe hemochromatosis, modifier of" MONDO:0021001 oboInOwl:hasExactSynonym "HFE-associated hereditary hemochromatosis" MONDO:0021001 oboInOwl:hasExactSynonym "symptomatic form of hemochromatosis type 1" MONDO:0021001 oboInOwl:hasExactSynonym "symptomatic form of HFE-related hereditary hemochromatosis" @@ -144238,6 +145780,7 @@ ECTO:0000002 oboInOwl:hasExactSynonym "electromagnetic radiation exposure" GO:0009749 oboInOwl:hasExactSynonym "response to glucose stimulus" MONDO:0004189 oboInOwl:hasExactSynonym "tuberculosis of esophagus" MONDO:0004189 oboInOwl:hasExactSynonym "esophagus tuberculosis" +MONDO:0011054 oboInOwl:hasExactSynonym "Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome" MONDO:0006389 oboInOwl:hasExactSynonym "rhabdomyosarcoma of the prostate" MONDO:0006389 oboInOwl:hasExactSynonym "rhabdomyosarcoma of prostate" MONDO:0006389 oboInOwl:hasExactSynonym "prostate rhabdomyosarcoma" @@ -144278,6 +145821,7 @@ CHEBI:27902 oboInOwl:hasExactSynonym "Tetracycline" CHEBI:27902 oboInOwl:hasExactSynonym "TETRACYCLINE" CHEBI:27902 oboInOwl:hasExactSynonym "tetracycline" CHEBI:27902 oboInOwl:hasExactSynonym "(4S,4aS,5aS,6S,12aS)-4-(dimethylamino)-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide" +MONDO:0012456 oboInOwl:hasExactSynonym "anterior segment dysgenesis 2, multiple subtypes" MONDO:0012456 oboInOwl:hasExactSynonym "congenital aphakia" MONDO:0012456 oboInOwl:hasExactSynonym "aphakia, congenital primary" MONDO:0012456 oboInOwl:hasExactSynonym "congenital absence of lens" @@ -144288,6 +145832,7 @@ MONDO:0024647 oboInOwl:hasExactSynonym "calculus" MONDO:0007650 oboInOwl:hasExactSynonym "MALT-lymphoma" MONDO:0007650 oboInOwl:hasExactSynonym "Immunocytoma" MONDO:0007650 oboInOwl:hasExactSynonym "mucosa-associated lymphatic tissue lymphoma" +MONDO:0007650 oboInOwl:hasExactSynonym "lymphoma, MALT, somatic" MONDO:0007650 oboInOwl:hasExactSynonym "Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma)" MONDO:0007650 oboInOwl:hasExactSynonym "Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue" MONDO:0007650 oboInOwl:hasExactSynonym "mucosa-associated lymphoid tissue lymphoma" @@ -144298,6 +145843,9 @@ MONDO:0007650 oboInOwl:hasExactSynonym "Extranodal marginal zone B-cell lymphoma MONDO:0007650 oboInOwl:hasExactSynonym "MALT lymphoma" MONDO:0009609 oboInOwl:hasExactSynonym "methylcobalamin deficiency type cblG" MONDO:0009609 oboInOwl:hasExactSynonym "functional methionine synthase deficiency type cblG" +MONDO:0044256 oboInOwl:hasExactSynonym "skin/hair/eye pigmentation 5, dark/light eyes" +MONDO:0044256 oboInOwl:hasExactSynonym "skin/hair/eye pigmentation 5, dark/fair skin" +MONDO:0044256 oboInOwl:hasExactSynonym "skin/hair/eye pigmentation 5, black/nonblack hair" MONDO:0014459 oboInOwl:hasExactSynonym "NOTCH1 Adams-Oliver syndrome" MONDO:0014459 oboInOwl:hasExactSynonym "Adams-Oliver syndrome 5" MONDO:0014459 oboInOwl:hasExactSynonym "Notch1 Adams-Oliver syndrome" @@ -144333,6 +145881,7 @@ MONDO:0013508 oboInOwl:hasExactSynonym "MYP19" http://purl.obolibrary.org/obo/mo MONDO:0060779 oboInOwl:hasExactSynonym "acquired Fanconi syndrome" MONDO:0014719 oboInOwl:hasExactSynonym "EIEE35" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014719 oboInOwl:hasExactSynonym "DEE35" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014719 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 35" MONDO:0014719 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 35" MONDO:0014719 oboInOwl:hasExactSynonym "ITPA-related encephalopathy" MONDO:0014719 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 35" @@ -144351,10 +145900,10 @@ MONDO:0004310 oboInOwl:hasExactSynonym "adult ependymoblastoma" MONDO:0004310 oboInOwl:hasExactSynonym "ependymoblastoma of adults" CHEBI:15956 oboInOwl:hasExactSynonym "BIOTIN" CHEBI:15956 oboInOwl:hasExactSynonym "5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoic acid" +MONDO:0012677 oboInOwl:hasExactSynonym "KCNE2 familial atrial fibrillation" MONDO:0012677 oboInOwl:hasExactSynonym "atrial fibrillation, familial, type 4" MONDO:0012677 oboInOwl:hasExactSynonym "familial atrial fibrillation caused by mutation in KCNE2" MONDO:0012677 oboInOwl:hasExactSynonym "atrial fibrillation, familial, 4" -MONDO:0012677 oboInOwl:hasExactSynonym "KCNE2 familial atrial fibrillation" GO:0045581 oboInOwl:hasExactSynonym "negative regulation of T-lymphocyte differentiation" GO:0045581 oboInOwl:hasExactSynonym "negative regulation of T lymphocyte differentiation" GO:0045581 oboInOwl:hasExactSynonym "negative regulation of T-cell differentiation" @@ -144385,6 +145934,7 @@ GO:0044427 oboInOwl:hasExactSynonym "chromosome component" GO:0044427 oboInOwl:hasExactSynonym "chromosomal component" MONDO:0004438 oboInOwl:hasExactSynonym "sporadic breast cancer" MONDO:0004438 oboInOwl:hasExactSynonym "sporadic breast carcinoma" +MONDO:0010685 oboInOwl:hasExactSynonym "myopia-1, X-linked recessive" MONDO:0010685 oboInOwl:hasExactSynonym "myopia 1, X-linked" MONDO:0010685 oboInOwl:hasExactSynonym "MYP1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005996 oboInOwl:hasExactSynonym "trichuriasis infection" @@ -144475,6 +146025,7 @@ MONDO:0010277 oboInOwl:hasExactSynonym "MRXS11" http://purl.obolibrary.org/obo/m MONDO:0010277 oboInOwl:hasExactSynonym "X-linked mental retardation Shashi type" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010277 oboInOwl:hasExactSynonym "X-linked intellectual disability Shashi type" MONDO:0010277 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic 11, Shashi type" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010277 oboInOwl:hasExactSynonym "intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive" MONDO:0010277 oboInOwl:hasExactSynonym "SMRXS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024239 oboInOwl:hasExactSynonym "cardiovascular system development disease" MONDO:0024239 oboInOwl:hasExactSynonym "disorder of cardiovascular system development" @@ -144581,6 +146132,7 @@ MONDO:0016861 oboInOwl:hasExactSynonym "Alagille syndrome due to monosomy 20p12" MONDO:0019580 oboInOwl:hasExactSynonym "cutaneous mucinosis of infancy" MONDO:0013049 oboInOwl:hasExactSynonym "DPM3-CDG" MONDO:0013049 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type 1o" +MONDO:0013049 oboInOwl:hasExactSynonym "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15" MONDO:0013049 oboInOwl:hasExactSynonym "carbohydrate deficient glycoprotein syndrome type Io" MONDO:0013049 oboInOwl:hasExactSynonym "CDG-Io" MONDO:0013049 oboInOwl:hasExactSynonym "CDG1O" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -144628,6 +146180,7 @@ ECTO:0000258 oboInOwl:hasExactSynonym "exposure to steroid hormone" MONDO:0019463 oboInOwl:hasExactSynonym "Randall disease" MONDO:0019463 oboInOwl:hasExactSynonym "non-amyloid MIDD" MONDO:0011267 oboInOwl:hasExactSynonym "intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration" +MONDO:0011267 oboInOwl:hasExactSynonym "mental retardation, severe, with spasticity and tapetoretinal degeneration" GO:0070875 oboInOwl:hasExactSynonym "positive regulation of glycogen metabolism" CHEBI:8386 oboInOwl:hasExactSynonym "pregnane" MONDO:0002972 oboInOwl:hasExactSynonym "posterior mediastinum cancer" @@ -144644,7 +146197,9 @@ MONDO:0100245 oboInOwl:hasExactSynonym "PNH" http://purl.obolibrary.org/obo/mond MONDO:0008055 oboInOwl:hasExactSynonym "myotonia congenita, autosomal dominant" MONDO:0008055 oboInOwl:hasExactSynonym "Thomsen's disease" MONDO:0008055 oboInOwl:hasExactSynonym "Thomsen disease" +MONDO:0008055 oboInOwl:hasExactSynonym "myotonia congenita, dominant" MONDO:0008055 oboInOwl:hasExactSynonym "congenital myotonia, autosomal dominant form" +MONDO:0014962 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 57" MONDO:0014962 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 57" MONDO:0014962 oboInOwl:hasExactSynonym "MRT57" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014962 oboInOwl:hasExactSynonym "autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7" @@ -144652,6 +146207,7 @@ MONDO:0014962 oboInOwl:hasExactSynonym "intellectual disability, autosomal reces MONDO:0014962 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 57" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014962 oboInOwl:hasExactSynonym "MBOAT7 autosomal recessive non-syndromic intellectual disability" MONDO:0014962 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive 57" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0030899 oboInOwl:hasExactSynonym "oculocutaneous albinism, type VIII" MONDO:0030899 oboInOwl:hasExactSynonym "OCA8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030899 oboInOwl:hasExactSynonym "oculocutaneous albinism, type 8" MONDO:0010921 oboInOwl:hasExactSynonym "nasal dermoid sinus cyst" @@ -144737,6 +146293,7 @@ MONDO:0600026 oboInOwl:hasExactSynonym "idiopathic giant bullous emphysema" MONDO:0600026 oboInOwl:hasExactSynonym "VLS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012319 oboInOwl:hasExactSynonym "MAFD3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012319 oboInOwl:hasExactSynonym "major affective disorder 3" +MONDO:0012319 oboInOwl:hasExactSynonym "major affective disorder 3, early onset" MONDO:0018479 oboInOwl:hasExactSynonym "congenital lipoid adrenal hyperplasia" MONDO:0018479 oboInOwl:hasExactSynonym "CAH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018479 oboInOwl:hasExactSynonym "congenital adrenal gland hyperplasia" @@ -144779,6 +146336,7 @@ MONDO:0013195 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, t MONDO:0013195 oboInOwl:hasExactSynonym "CMH13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013195 oboInOwl:hasExactSynonym "TNNC1 hypertrophic cardiomyopathy" MONDO:0013195 oboInOwl:hasExactSynonym "cardiomyopathy familial hypertrophic 13" +MONDO:0013195 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 13" MONDO:0013195 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 13" MONDO:0008262 oboInOwl:hasExactSynonym "Poland's syndactyly" MONDO:0008262 oboInOwl:hasExactSynonym "Poland sequence" @@ -144816,6 +146374,7 @@ SO:0001268 oboInOwl:hasExactSynonym "snRNA gene" SO:0001268 oboInOwl:hasExactSynonym "small nuclear RNA gene" MONDO:0012183 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, susceptibility to, 3" MONDO:0012183 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, susceptibility to, type 3" +MONDO:0012183 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, 3" GO:1905879 oboInOwl:hasExactSynonym "regulation of ovum development" MONDO:0007323 oboInOwl:hasExactSynonym "Chondronectin" MONDO:0011739 oboInOwl:hasExactSynonym "pancreatic cancer, susceptibility to, type 1" @@ -144882,6 +146441,7 @@ MONDO:0012873 oboInOwl:hasExactSynonym "EDS, spondylocheirodysplastic type" GO:0040013 oboInOwl:hasExactSynonym "downregulation of locomotion" GO:0040013 oboInOwl:hasExactSynonym "down regulation of locomotion" GO:0040013 oboInOwl:hasExactSynonym "down-regulation of locomotion" +MONDO:0009252 oboInOwl:hasExactSynonym "fructosuria, essential" MONDO:0009252 oboInOwl:hasExactSynonym "fructokinase deficiency" MONDO:0009252 oboInOwl:hasExactSynonym "ketohexokinase deficiency" MONDO:0002238 oboInOwl:hasExactSynonym "Ca ascending colon" @@ -144892,8 +146452,11 @@ MONDO:0002238 oboInOwl:hasExactSynonym "malignant neoplasm of right colon" MONDO:0002238 oboInOwl:hasExactSynonym "malignant tumor of ascending colon" MONDO:0002238 oboInOwl:hasExactSynonym "malignant ascending colon neoplasm" NCBITaxon:11577 oboInOwl:hasExactSynonym "Bunyavirus la crosse" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name +MONDO:0010726 oboInOwl:hasExactSynonym "rett syndrome, X-linked dominant" MONDO:0010726 oboInOwl:hasExactSynonym "Rett's disorder" +MONDO:0010726 oboInOwl:hasExactSynonym "rett syndrome, atypical, X-linked dominant" MONDO:0010726 oboInOwl:hasExactSynonym "Rett syndrome" +MONDO:0010726 oboInOwl:hasExactSynonym "rett syndrome, preserved speech variant, X-linked dominant" MONDO:0010726 oboInOwl:hasExactSynonym "cerebroatrophic hyperammonemia" MONDO:0002414 oboInOwl:hasExactSynonym "gastric hemangioma" MONDO:0002414 oboInOwl:hasExactSynonym "angioma of stomach" @@ -144906,10 +146469,6 @@ CHEBI:33304 oboInOwl:hasExactSynonym "chalcogen molecular entity" NCBITaxon:436486 oboInOwl:hasExactSynonym "dinosaurs" http://purl.obolibrary.org/obo/ncbitaxon#common_name NCBITaxon:436486 oboInOwl:hasExactSynonym "dinosaur" http://purl.obolibrary.org/obo/ncbitaxon#common_name MONDO:0044726 oboInOwl:hasExactSynonym "Cerebrorenal syndrome, Perez type" -MONDO:0016946 oboInOwl:hasExactSynonym "partial duplication of chromosome 9p" -MONDO:0016946 oboInOwl:hasExactSynonym "partial trisomy of the short arm of chromosome type 9" -MONDO:0016946 oboInOwl:hasExactSynonym "partial duplication of the short arm of chromosome 9" -MONDO:0016946 oboInOwl:hasExactSynonym "partial trisomy of chromosome 9p" MONDO:0009135 oboInOwl:hasExactSynonym "anemia, congenital dyserythropoietic, type Ia" MONDO:0009135 oboInOwl:hasExactSynonym "anemia, congenital dyserythropoietic, type 1a" MONDO:0008579 oboInOwl:hasExactSynonym "toes, relative length of first and second" @@ -144917,6 +146476,7 @@ MONDO:0019318 oboInOwl:hasExactSynonym "ILVEN" http://purl.obolibrary.org/obo/mo MONDO:0018644 oboInOwl:hasExactSynonym "AD-SPG9B" MONDO:0009525 oboInOwl:hasExactSynonym "10q24 microduplication syndrome" MONDO:0009525 oboInOwl:hasExactSynonym "chromosome 10q24 duplication syndrome" +MONDO:0009525 oboInOwl:hasExactSynonym "split-hand/foot malformation 3, gene duplication syndrome" MONDO:0009525 oboInOwl:hasExactSynonym "split hand-foot malformation type 3" MONDO:0009525 oboInOwl:hasExactSynonym "distal limb deficiencies with micrognathia" MONDO:0009525 oboInOwl:hasExactSynonym "split-hand/foot malformation type 3" @@ -144943,6 +146503,7 @@ MONDO:0021400 oboInOwl:hasExactSynonym "colon polyp" MONDO:0021400 oboInOwl:hasExactSynonym "polyp of the colon" MONDO:0017242 oboInOwl:hasExactSynonym "CCV" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008123 oboInOwl:hasExactSynonym "omodysplasia, autosomal dominant" +MONDO:0033946 oboInOwl:hasExactSynonym "angioedema, hereditary, 1 and 2" MONDO:0033946 oboInOwl:hasExactSynonym "angioedema, hereditary, type 1/2" MONDO:0002083 oboInOwl:hasExactSynonym "Richter's syndrome" MONDO:0002083 oboInOwl:hasExactSynonym "Richter's transformation" @@ -145037,6 +146598,7 @@ MONDO:0014167 oboInOwl:hasExactSynonym "epilepsy, familial adult myoclonic, 5" MONDO:0014167 oboInOwl:hasExactSynonym "epilepsy, familial adult myoclonic caused by mutation in CNTN2" MONDO:0014167 oboInOwl:hasExactSynonym "epilepsy, familial adult myoclonic, type 5" MONDO:0014167 oboInOwl:hasExactSynonym "CNTN2 epilepsy, familial adult myoclonic" +MONDO:0014167 oboInOwl:hasExactSynonym "epilepsy, myoclonic, familial adult, 5" MONDO:0014434 oboInOwl:hasExactSynonym "BBS5 Bardet-Biedl syndrome" MONDO:0014434 oboInOwl:hasExactSynonym "BBS5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014434 oboInOwl:hasExactSynonym "Bardet-Biedl syndrome 5" @@ -145058,11 +146620,13 @@ GO:1901021 oboInOwl:hasExactSynonym "up-regulation of calcium ion transmembrane MONDO:0012652 oboInOwl:hasExactSynonym "LGMD2L" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012652 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5" MONDO:0012652 oboInOwl:hasExactSynonym "ANO5 autosomal recessive limb-girdle muscular dystrophy" +MONDO:0012652 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal recessive 12" MONDO:0012652 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, type 2L" MONDO:0030045 oboInOwl:hasExactSynonym "Liberfarb syndrome" MONDO:0030045 oboInOwl:hasExactSynonym "LIBF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030045 oboInOwl:hasExactSynonym "LIBERFARB SYNDROME" MONDO:0030045 oboInOwl:hasExactSynonym "Spondyloepimetaphyseal Dysplasia, Liberfarb Type" +MONDO:0019108 oboInOwl:hasExactSynonym "Imploding antrum syndrome" MONDO:0002981 oboInOwl:hasExactSynonym "peripheral primitive neuroectodermal tumor of bone" MONDO:0002981 oboInOwl:hasExactSynonym "peripheral neuroepithelioma of bone" MONDO:0002981 oboInOwl:hasExactSynonym "osseous peripheral neuroepithelioma" @@ -145072,8 +146636,8 @@ MONDO:0002981 oboInOwl:hasExactSynonym "peripheral neuroectodermal tumor of the MONDO:0002981 oboInOwl:hasExactSynonym "bone peripheral neuroepithelioma" MONDO:0002981 oboInOwl:hasExactSynonym "peripheral neuroepithelioma of the bone" MONDO:0002981 oboInOwl:hasExactSynonym "peripheral neuroectodermal tumor of bone" -MONDO:0019108 oboInOwl:hasExactSynonym "Imploding antrum syndrome" MONDO:0010305 oboInOwl:hasExactSynonym "creatine transporter deficiency" +MONDO:0010305 oboInOwl:hasExactSynonym "cerebral creatine deficiency syndrome 1, X-linked recessive" MONDO:0010305 oboInOwl:hasExactSynonym "cerebral creatine deficiency syndrome 1" MONDO:0010305 oboInOwl:hasExactSynonym "SLC6A8 deficiency" MONDO:0010305 oboInOwl:hasExactSynonym "cerebral creatine deficiency syndrome type 1" @@ -145128,13 +146692,16 @@ MONDO:0017411 oboInOwl:hasExactSynonym "inflammatory skin and bowel disease, neo MONDO:0015250 oboInOwl:hasExactSynonym "Hamano-Tsukamoto syndrome" MONDO:0013455 oboInOwl:hasExactSynonym "CMH16" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013455 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy caused by mutation in MYOZ2" +MONDO:0013455 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 16" MONDO:0013455 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, type 16" MONDO:0013455 oboInOwl:hasExactSynonym "MYOZ2 hypertrophic cardiomyopathy" MONDO:0013455 oboInOwl:hasExactSynonym "cardiomyopathy familial hypertrophic 16" MONDO:0013455 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 16" MONDO:0014401 oboInOwl:hasExactSynonym "tall stature-scoliosis-macrodactyly of the halluces syndrome" MONDO:0002629 oboInOwl:hasExactSynonym "osteosarcoma of bone" +MONDO:0002629 oboInOwl:hasExactSynonym "osteosarcoma, somatic mutation" MONDO:0002629 oboInOwl:hasExactSynonym "bone osteosarcoma" +MONDO:0002629 oboInOwl:hasExactSynonym "osteosarcoma, somatic" MONDO:0002629 oboInOwl:hasExactSynonym "primary osteosarcoma of bone" MONDO:0002120 oboInOwl:hasExactSynonym "neuroendocrine carcinoma" MONDO:0002120 oboInOwl:hasExactSynonym "NEC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -145208,6 +146775,7 @@ HP:0004340 oboInOwl:hasExactSynonym "Abnormality of B-vitamin metabolism" MONDO:0010473 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic 32" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010473 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic type 32" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010473 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndromic type 32" +MONDO:0010473 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked syndromic 32, X-linked recessive" MONDO:0010473 oboInOwl:hasExactSynonym "MRXS32" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010473 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndromic 32" GO:0051240 oboInOwl:hasExactSynonym "up-regulation of multicellular organismal process" @@ -145222,8 +146790,9 @@ MONDO:0001889 oboInOwl:hasExactSynonym "ovarian failure" MONDO:0001889 oboInOwl:hasExactSynonym "ovarian hypofunction" MONDO:0001889 oboInOwl:hasExactSynonym "ovarian insufficiency" MONDO:0009348 oboInOwl:hasExactSynonym "classical Hodgkin lymphoma" -MONDO:0009348 oboInOwl:hasExactSynonym "classical Hodgkin's lymphoma" MONDO:0009348 oboInOwl:hasExactSynonym "classic Hodgkin disease" +MONDO:0009348 oboInOwl:hasExactSynonym "Hodgkin lymphoma, susceptibility to" +MONDO:0009348 oboInOwl:hasExactSynonym "classical Hodgkin's lymphoma" MONDO:0007261 oboInOwl:hasExactSynonym "Carabelli anomaly of maxillary molar teeth" MONDO:0007651 oboInOwl:hasExactSynonym "gastrocutaneous syndrome" ECTO:9000519 oboInOwl:hasExactSynonym "exposure to dioxygen" @@ -145232,15 +146801,17 @@ MONDO:0011935 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation MONDO:0011935 oboInOwl:hasExactSynonym "RP30" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011935 oboInOwl:hasExactSynonym "FSCN2 retinitis pigmentosa" MONDO:0011935 oboInOwl:hasExactSynonym "retinitis pigmentosa 30" +MONDO:0011055 oboInOwl:hasExactSynonym "telomeric deletion 10p" MONDO:0011055 oboInOwl:hasExactSynonym "DiGeorge syndrome/velocardiofacial syndrome Complex type 2" -MONDO:0011055 oboInOwl:hasExactSynonym "10p13-p14 Deletion syndrome" MONDO:0011055 oboInOwl:hasExactSynonym "distal monosomy type 10p" -MONDO:0011055 oboInOwl:hasExactSynonym "DiGeorge syndrome type 2" -MONDO:0011055 oboInOwl:hasExactSynonym "telomeric deletion 10p" MONDO:0011055 oboInOwl:hasExactSynonym "monosomy 10pter" +MONDO:0011055 oboInOwl:hasExactSynonym "10p13-p14 Deletion syndrome" +MONDO:0011055 oboInOwl:hasExactSynonym "DiGeorge syndrome/velocardiofacial syndrome complex-2" +MONDO:0011055 oboInOwl:hasExactSynonym "DiGeorge syndrome type 2" MONDO:0011055 oboInOwl:hasExactSynonym "distal 10p deletion" MONDO:0002122 oboInOwl:hasExactSynonym "nerve inflammation" MONDO:0002122 oboInOwl:hasExactSynonym "peripheral neuritis" +MONDO:0033654 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 19" MONDO:0033654 oboInOwl:hasExactSynonym "MC4DN19" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016244 oboInOwl:hasExactSynonym "atypical hemolytic uremic syndrome" MONDO:0016244 oboInOwl:hasExactSynonym "hemolytic-uremic syndrome without diarrhea" @@ -145264,8 +146835,9 @@ GO:0044428 oboInOwl:hasExactSynonym "nuclear subcomponent" MONDO:0027766 oboInOwl:hasExactSynonym "complete generalized lipodystrophy" MONDO:0014859 oboInOwl:hasExactSynonym "DEE37" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014859 oboInOwl:hasExactSynonym "EIEE37" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014859 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 37" +MONDO:0014859 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 37" MONDO:0014859 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 37; EIEE37" +MONDO:0014859 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 37" MONDO:0014859 oboInOwl:hasExactSynonym "FRRS1L early infantile epileptic encephalopathy" MONDO:0014859 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in FRRS1L" MONDO:0014859 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 37" @@ -145277,6 +146849,7 @@ MONDO:0024648 oboInOwl:hasExactSynonym "meningioma of visual pathway" MONDO:0024648 oboInOwl:hasExactSynonym "meningioma of the optic tract" MONDO:0024648 oboInOwl:hasExactSynonym "meningioma of the visual pathway" MONDO:0024648 oboInOwl:hasExactSynonym "meningioma of optic tract" +MONDO:0044257 oboInOwl:hasExactSynonym "blood group, Lutheran null" MONDO:0015609 oboInOwl:hasExactSynonym "FASPS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015609 oboInOwl:hasExactSynonym "familial advanced sleep-phase syndrome" MONDO:0014636 oboInOwl:hasExactSynonym "COXPD25" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -145354,6 +146927,7 @@ MONDO:0005114 oboInOwl:hasExactSynonym "Streptococcus pneumoniae infectious dise GO:1904220 oboInOwl:hasExactSynonym "regulation of 3-oxosphinganine synthetase activity" GO:1904220 oboInOwl:hasExactSynonym "regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity" CHEBI:46662 oboInOwl:hasExactSynonym "mineral" +MONDO:0012865 oboInOwl:hasExactSynonym "pseudofolliculitis barbae, susceptibility to" MONDO:0012865 oboInOwl:hasExactSynonym "Pseudofolliculitis barbae" MONDO:0015055 oboInOwl:hasExactSynonym "AAE 2" MONDO:0015055 oboInOwl:hasExactSynonym "acquired angioneurotic edema type 2" @@ -145414,6 +146988,7 @@ GO:0033490 oboInOwl:hasExactSynonym "cholesterol biosynthesis via lathosterol" GO:0033490 oboInOwl:hasExactSynonym "cholesterol anabolism via lathosterol" MONDO:0016504 oboInOwl:hasExactSynonym "PUAH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010278 oboInOwl:hasExactSynonym "mental retardation, microcephaly, epilepsy, and ataxia syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010278 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked syndromic, Christianson type" MONDO:0010278 oboInOwl:hasExactSynonym "intellectual disability, X-linked syndromic, Christianson type" MONDO:0010278 oboInOwl:hasExactSynonym "Christianson syndrome" MONDO:0010278 oboInOwl:hasExactSynonym "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome" @@ -145463,6 +147038,7 @@ MONDO:0007629 oboInOwl:hasExactSynonym "fragile site 10Q23" MONDO:0003732 oboInOwl:hasExactSynonym "central nervous system mature teratoma of adults" MONDO:0003732 oboInOwl:hasExactSynonym "adult central nervous system mature teratoma" MONDO:0010499 oboInOwl:hasExactSynonym "Ritscher-Schinzel syndrome caused by mutation in CCDC22" +MONDO:0010499 oboInOwl:hasExactSynonym "Ritscher-Schinzel syndrome 2, X-linked recessive" MONDO:0010499 oboInOwl:hasExactSynonym "Ritscher-Schinzel syndrome type 2" MONDO:0010499 oboInOwl:hasExactSynonym "Ritscher-Schinzel syndrome 2" MONDO:0010499 oboInOwl:hasExactSynonym "RTSC2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -145522,6 +147098,7 @@ GO:2001258 oboInOwl:hasExactSynonym "negative regulation of nonselective cation GO:2001258 oboInOwl:hasExactSynonym "negative regulation of cation diffusion facilitator activity" MONDO:0019464 oboInOwl:hasExactSynonym "HCD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019464 oboInOwl:hasExactSynonym "heavy chain disease" +MONDO:0011268 oboInOwl:hasExactSynonym "distal renal tubular acidosis 3, with or without sensorineural hearing loss" MONDO:0011268 oboInOwl:hasExactSynonym "classical distal RTA" MONDO:0011268 oboInOwl:hasExactSynonym "type 1 renal tubular acidosis" MONDO:0011268 oboInOwl:hasExactSynonym "type 1 RTA" @@ -145549,6 +147126,7 @@ MONDO:0001187 oboInOwl:hasExactSynonym "malignant bladder neoplasm" MONDO:0001187 oboInOwl:hasExactSynonym "malignant urinary bladder neoplasm" MONDO:0001187 oboInOwl:hasExactSynonym "malignant neoplasm, urinary bladder" MONDO:0001187 oboInOwl:hasExactSynonym "malignant bladder tumor" +MONDO:0001187 oboInOwl:hasExactSynonym "bladder cancer, somatic" MONDO:0001187 oboInOwl:hasExactSynonym "malignant tumor, urinary bladder" MONDO:0001187 oboInOwl:hasExactSynonym "malignant tumor of urinary bladder" MONDO:0001187 oboInOwl:hasExactSynonym "cancer of urinary bladder" @@ -145559,6 +147137,7 @@ MONDO:0001187 oboInOwl:hasExactSynonym "urinary bladder malignant tumor" MONDO:0008892 oboInOwl:hasExactSynonym "FIC1 deficiency" MONDO:0008892 oboInOwl:hasExactSynonym "cholestasis, progressive familial intrahepatic, type 1" MONDO:0008892 oboInOwl:hasExactSynonym "PFIC1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008892 oboInOwl:hasExactSynonym "cholestasis, progressive familial intrahepatic 1" MONDO:0008892 oboInOwl:hasExactSynonym "Byler disease" MONDO:0009534 oboInOwl:hasExactSynonym "lymphoblastic transformation, inhibition of" MONDO:0013447 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation in GUCA1B" @@ -145607,8 +147186,8 @@ MONDO:0014888 oboInOwl:hasExactSynonym "mirage syndrome" MONDO:0014888 oboInOwl:hasExactSynonym "myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome" MONDO:0017078 oboInOwl:hasExactSynonym "cephalocele" MONDO:0017078 oboInOwl:hasExactSynonym "cranium bifidum" -MONDO:0017078 oboInOwl:hasExactSynonym "cephalocele (disease)" MONDO:0017078 oboInOwl:hasExactSynonym "encephalocele" +MONDO:0017078 oboInOwl:hasExactSynonym "cephalocele (disease)" MONDO:0018152 oboInOwl:hasExactSynonym "geographic helicoid peripapillary choroidopathy" MONDO:0008263 oboInOwl:hasExactSynonym "polycystic kidney disease type 1" MONDO:0008263 oboInOwl:hasExactSynonym "PKD1 autosomal dominant polycystic kidney disease" @@ -145629,6 +147208,7 @@ MONDO:0007066 oboInOwl:hasExactSynonym "adenosine triphosphatase deficiency, ane MONDO:0010139 oboInOwl:hasExactSynonym "CHNG4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010139 oboInOwl:hasExactSynonym "isolated thyrotropin deficiency" MONDO:0010139 oboInOwl:hasExactSynonym "hypothyroidism, congenital, nongoitrous, type 4" +MONDO:0010139 oboInOwl:hasExactSynonym "hypothyroidism, congenital, nongoitrous 4" MONDO:0010139 oboInOwl:hasExactSynonym "isolated TSH deficiency" MONDO:0024880 oboInOwl:hasExactSynonym "malignant metastatic neoplasm" MONDO:0024880 oboInOwl:hasExactSynonym "metastatic neoplasm, malignant" @@ -145672,10 +147252,10 @@ MONDO:0019013 oboInOwl:hasExactSynonym "angioneurotic edema" MONDO:0016370 oboInOwl:hasExactSynonym "metabolic bone disorder" MONDO:0016370 oboInOwl:hasExactSynonym "metabolic bone disease" MONDO:0016370 oboInOwl:hasExactSynonym "Marchiafava Bignami disease" +MONDO:0009357 oboInOwl:hasExactSynonym "humeroradial synostosis with craniofacial anomalies" MONDO:0030015 oboInOwl:hasExactSynonym "bone marrow failure syndrome 6" MONDO:0030015 oboInOwl:hasExactSynonym "BONE MARROW FAILURE SYNDROME 6" MONDO:0030015 oboInOwl:hasExactSynonym "BMFS6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009357 oboInOwl:hasExactSynonym "humeroradial synostosis with craniofacial anomalies" MONDO:0014176 oboInOwl:hasExactSynonym "IHPRF syndrome" MONDO:0014176 oboInOwl:hasExactSynonym "hypotonia, infantile, with psychomotor retardation and characteristic facies" MONDO:0014176 oboInOwl:hasExactSynonym "hypotonia-speech impairment-severe cognitive delay syndrome" @@ -145689,7 +147269,6 @@ MONDO:0011610 oboInOwl:hasExactSynonym "disorder of dimethylglycine dehydrogenas MONDO:0011610 oboInOwl:hasExactSynonym "dimethylglycine dehydrogenase deficiency" MONDO:0011610 oboInOwl:hasExactSynonym "DMGDH deficiency" MONDO:0011610 oboInOwl:hasExactSynonym "dimethylglycine dehydrogenase activity disease" -MONDO:0003805 oboInOwl:hasExactSynonym "malignant pericardial mesothelioma" MONDO:0003805 oboInOwl:hasExactSynonym "malignant mesothelioma of the pericardium" MONDO:0003805 oboInOwl:hasExactSynonym "pericardium malignant mesothelioma (disease)" MONDO:0003805 oboInOwl:hasExactSynonym "malignant mesothelioma of pericardium" @@ -145697,6 +147276,7 @@ MONDO:0003805 oboInOwl:hasExactSynonym "pericardial mesothelioma" MONDO:0003805 oboInOwl:hasExactSynonym "pericardial malignant mesothelioma" MONDO:0003805 oboInOwl:hasExactSynonym "malignant mesothelioma (disease) of pericardium" MONDO:0003805 oboInOwl:hasExactSynonym "pericardium mesothelioma" +MONDO:0003805 oboInOwl:hasExactSynonym "malignant pericardial mesothelioma" MONDO:0005295 oboInOwl:hasExactSynonym "intermittent claudication" MONDO:0005295 oboInOwl:hasExactSynonym "Charcot's syndrome" MONDO:0008521 oboInOwl:hasExactSynonym "tarsal-carpal coalition syndrome" @@ -145717,6 +147297,7 @@ MONDO:0003251 oboInOwl:hasExactSynonym "esophagus granular cell tumor" MONDO:0003251 oboInOwl:hasExactSynonym "esophageal granular cell tumor" MONDO:0003251 oboInOwl:hasExactSynonym "esophageal granular cell myoblastoma" MONDO:0011916 oboInOwl:hasExactSynonym "autosomal recessive axonal Charcot-Marie-Tooth disease type 2K" +MONDO:0011916 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K" MONDO:0011916 oboInOwl:hasExactSynonym "autosomal recessive Charcot-Marie-Tooth disease with hoarseness" MONDO:0011916 oboInOwl:hasExactSynonym "ARCMT2K" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011916 oboInOwl:hasExactSynonym "autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K" @@ -145724,6 +147305,7 @@ MONDO:0011916 oboInOwl:hasExactSynonym "autosomal recessive axonal CMT4C4" MONDO:0011916 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy axonal type 2K" MONDO:0010851 oboInOwl:hasExactSynonym "Lowry-MacLean syndrome" CL:0002494 oboInOwl:hasExactSynonym "heart cell" +MONDO:0032651 oboInOwl:hasExactSynonym "FINCA syndrome" MONDO:0018714 oboInOwl:hasExactSynonym "Dabska tumor" MONDO:0018714 oboInOwl:hasExactSynonym "pila" MONDO:0018714 oboInOwl:hasExactSynonym "papillary intralymphatic angioendothelioma" @@ -145767,6 +147349,7 @@ MONDO:0011433 oboInOwl:hasExactSynonym "anemia, congenital hypoplastic, with mul MONDO:0011433 oboInOwl:hasExactSynonym "anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome" MONDO:0006744 oboInOwl:hasExactSynonym "labyrinthine hydrops" MONDO:0013633 oboInOwl:hasExactSynonym "encephalopathy, acute, infection-induced, susceptibility to, type 4" +MONDO:0013633 oboInOwl:hasExactSynonym "encephalopathy, acute, infection-induced, 4, susceptibility to" MONDO:0013633 oboInOwl:hasExactSynonym "CPT2 encephalopathy, acute, infection-induced" MONDO:0013633 oboInOwl:hasExactSynonym "encephalopathy, acute, infection-induced caused by mutation in CPT2" MONDO:0013633 oboInOwl:hasExactSynonym "encephalopathy, acute, infection-induced, susceptibility to, 4" @@ -145841,6 +147424,7 @@ MONDO:0001597 oboInOwl:hasExactSynonym "disorder of submandibular gland" MONDO:0001597 oboInOwl:hasExactSynonym "submandibular gland disease or disorder" MONDO:0001597 oboInOwl:hasExactSynonym "disease of submandibular gland" MONDO:0017243 oboInOwl:hasExactSynonym "bullous DCM" +MONDO:0008124 oboInOwl:hasExactSynonym "omphalocele due to duplication of 1p31.3, isolated cases" MONDO:0008124 oboInOwl:hasExactSynonym "omphalocele, autosomal" MONDO:0002239 oboInOwl:hasExactSynonym "postsurgical hypoinsulinemia" MONDO:0019170 oboInOwl:hasExactSynonym "classical polyarteritis nodosa" @@ -145858,6 +147442,7 @@ MONDO:0004973 oboInOwl:hasExactSynonym "adenosquamous lung carcinoma" MONDO:0004973 oboInOwl:hasExactSynonym "lung adenosquamous carcinoma" MONDO:0010304 oboInOwl:hasExactSynonym "Graves disease, susceptibility to, X-linked type 1" MONDO:0010304 oboInOwl:hasExactSynonym "Graves disease, susceptibility to, X-linked 1" +MONDO:0010304 oboInOwl:hasExactSynonym "Graves disease, susceptibility to, X-linked" MONDO:0005615 oboInOwl:hasExactSynonym "plasmacytoma" MONDO:0044350 oboInOwl:hasExactSynonym "hyperparathyroidism, primary, caused by water clear cell hyperplasia" MONDO:0030017 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency 43" @@ -145939,6 +147524,7 @@ MONDO:0005460 oboInOwl:hasExactSynonym "Influenza A (H1N1) Virus infection" MONDO:0005460 oboInOwl:hasExactSynonym "Influenza A (H1N1)" MONDO:0008977 oboInOwl:hasExactSynonym "chondrosarcoma (disease)" MONDO:0008977 oboInOwl:hasExactSynonym "chondrosarcoma, malignant" +MONDO:0008977 oboInOwl:hasExactSynonym "chondrosarcoma, somatic mutation" MONDO:0008977 oboInOwl:hasExactSynonym "chondrosarcoma" MONDO:0007660 oboInOwl:hasExactSynonym "hereditary ossifying fibroma (disease)" MONDO:0007660 oboInOwl:hasExactSynonym "multiple ossifying fibroma" @@ -146021,6 +147607,7 @@ MONDO:0044656 oboInOwl:hasExactSynonym "epidermolytic epidermal nevus" MONDO:0044656 oboInOwl:hasExactSynonym "epidermolytic verrucous epidermal nevus" MONDO:0031007 oboInOwl:hasExactSynonym "SHILCA Syndrome" MONDO:0031007 oboInOwl:hasExactSynonym "SHILCA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0031007 oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis" GO:0042445 oboInOwl:hasExactSynonym "hormone metabolism" MONDO:0007483 oboInOwl:hasExactSynonym "acropigmentation of Dohi" MONDO:0007483 oboInOwl:hasExactSynonym "RAD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -146047,6 +147634,7 @@ NCBITaxon:12089 oboInOwl:hasExactSynonym "Human coxsackievirus A24" http://purl. NCBITaxon:12089 oboInOwl:hasExactSynonym "Human enterovirus CVA24" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name MONDO:0019109 oboInOwl:hasExactSynonym "chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies" MONDO:0019109 oboInOwl:hasExactSynonym "chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome" +MONDO:0010306 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive" MONDO:0010306 oboInOwl:hasExactSynonym "X-linked mental retardation with short stature, hypogonadism, and abnormal gait" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010306 oboInOwl:hasExactSynonym "X-linked intellectual disability with short stature" MONDO:0010306 oboInOwl:hasExactSynonym "mental retardation, X-linked, with short stature" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -146071,8 +147659,6 @@ MONDO:0016466 oboInOwl:hasExactSynonym "asbestos dust pneumoconiosis" MONDO:0016466 oboInOwl:hasExactSynonym "asbestos intoxination" GO:0015318 oboInOwl:hasExactSynonym "inorganic uptake permease activity" GO:0015318 oboInOwl:hasExactSynonym "inorganic solute uptake transmembrane transporter activity" -MONDO:0017412 oboInOwl:hasExactSynonym "dup(2)(q31.1)" -MONDO:0017412 oboInOwl:hasExactSynonym "trisomy 2q31.1" CHEBI:17578 oboInOwl:hasExactSynonym "TOLUENE" CHEBI:17578 oboInOwl:hasExactSynonym "Toluene" CHEBI:17578 oboInOwl:hasExactSynonym "toluene" @@ -146119,8 +147705,8 @@ GO:0002461 oboInOwl:hasExactSynonym "immune response-dependent tolerance inducti MONDO:0005310 oboInOwl:hasExactSynonym "atrial flutter (disease)" MONDO:0005310 oboInOwl:hasExactSynonym "atrial flutter" MONDO:0017529 oboInOwl:hasExactSynonym "preaxial polydactyly type 4, unilateral" -MONDO:0002691 oboInOwl:hasExactSynonym "resectable malignant neoplasm of the liver" MONDO:0002691 oboInOwl:hasExactSynonym "hepatic cancer" +MONDO:0002691 oboInOwl:hasExactSynonym "resectable malignant neoplasm of the liver" MONDO:0002691 oboInOwl:hasExactSynonym "primary malignant neoplasm of liver" MONDO:0002691 oboInOwl:hasExactSynonym "non-resectable primary hepatic malignant neoplasm" MONDO:0002691 oboInOwl:hasExactSynonym "primary liver cancer" @@ -146153,6 +147739,7 @@ NCBITaxon:2 oboInOwl:hasExactSynonym "eubacteria" http://purl.obolibrary.org/obo HP:0002156 oboInOwl:hasExactSynonym "High urine homocystine levels" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0005607 oboInOwl:hasExactSynonym "bronchitis, chronic" MONDO:0009349 oboInOwl:hasExactSynonym "HPE1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009349 oboInOwl:hasExactSynonym "holoprosencephaly 1, isolated cases" MONDO:0009349 oboInOwl:hasExactSynonym "holoprosencephaly 1" MONDO:0009349 oboInOwl:hasExactSynonym "holoprosencephaly type 1" CL:0000822 oboInOwl:hasExactSynonym "B-2 B-cell" @@ -146213,8 +147800,9 @@ MONDO:0016700 oboInOwl:hasExactSynonym "anaplastic ependymal tumor" MONDO:0016700 oboInOwl:hasExactSynonym "WHO grade III ependymal neoplasm" MONDO:0016700 oboInOwl:hasExactSynonym "malignant ependymoma" MONDO:0016700 oboInOwl:hasExactSynonym "high-grade ependymoma" -MONDO:0010474 oboInOwl:hasExactSynonym "linear skin defects with multiple congenital anomalies 2" MONDO:0010474 oboInOwl:hasExactSynonym "COX7B microphthalmia with linear skin defects syndrome" +MONDO:0010474 oboInOwl:hasExactSynonym "linear skin defects with multiple congenital anomalies 2" +MONDO:0010474 oboInOwl:hasExactSynonym "linear skin defects with multiple congenital anomalies 2, X-linked dominant" MONDO:0010474 oboInOwl:hasExactSynonym "linear skin defects with multiple congenital anomalies type 2" MONDO:0010474 oboInOwl:hasExactSynonym "microphthalmia with linear skin defects syndrome caused by mutation in COX7B" MONDO:0001541 oboInOwl:hasExactSynonym "lesion of plantar nerve" @@ -146286,6 +147874,7 @@ MONDO:0013059 oboInOwl:hasExactSynonym "Aicardi-Goutieres syndrome type 5" MONDO:0013059 oboInOwl:hasExactSynonym "SAMHD1 Aicardi-Goutieres syndrome" MONDO:0013059 oboInOwl:hasExactSynonym "Aicardi-Goutieres syndrome caused by mutation in SAMHD1" MONDO:0008680 oboInOwl:hasExactSynonym "Wilms tumor 2" +MONDO:0008680 oboInOwl:hasExactSynonym "Wilms tumor 2, autosomal dominant, somatic mutation" MONDO:0008680 oboInOwl:hasExactSynonym "Wilms tumor type 2" MONDO:0014005 oboInOwl:hasExactSynonym "Immunoglobulin-mediated MPGN" MONDO:0014005 oboInOwl:hasExactSynonym "membranoproliferative glomerulonephritis type I" @@ -146318,10 +147907,12 @@ MONDO:0005998 oboInOwl:hasExactSynonym "Trombiculidae disease or disorder" MONDO:0005998 oboInOwl:hasExactSynonym "Trombiculidae caused disease or disorder" MONDO:0025353 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 90" MONDO:0025353 oboInOwl:hasExactSynonym "DEE90" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0025353 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 90, X-linked recessive, X-linked dominant" MONDO:0010194 oboInOwl:hasExactSynonym "Weill-Marchesani syndrome caused by mutation in ADAMTS10" MONDO:0010194 oboInOwl:hasExactSynonym "ADAMTS10 Weill-Marchesani syndrome" MONDO:0010194 oboInOwl:hasExactSynonym "Weill-Marchesani syndrome 1" MONDO:0010194 oboInOwl:hasExactSynonym "Weill-Marchesani syndrome type 1" +MONDO:0010194 oboInOwl:hasExactSynonym "Weill-Marchesani syndrome 1, recessive" HP:0010535 oboInOwl:hasExactSynonym "Sleep apnoea" HP:0010535 oboInOwl:hasExactSynonym "Pauses in breathing while sleeping" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0011277 oboInOwl:hasExactSynonym "leukoregulin" @@ -146366,8 +147957,8 @@ GO:1901192 oboInOwl:hasExactSynonym "upregulation of translation initiation tern GO:1901192 oboInOwl:hasExactSynonym "up regulation of formation of translation initiation ternary complex" GO:1901192 oboInOwl:hasExactSynonym "up-regulation of translation initiation ternary complex assembly" GO:1901192 oboInOwl:hasExactSynonym "up regulation of translation initiation ternary complex assembly" -GO:1901192 oboInOwl:hasExactSynonym "positive regulation of translation initiation ternary complex assembly" GO:1901192 oboInOwl:hasExactSynonym "upregulation of formation of translation initiation ternary complex" +GO:1901192 oboInOwl:hasExactSynonym "positive regulation of translation initiation ternary complex assembly" GO:1901192 oboInOwl:hasExactSynonym "up-regulation of formation of translation initiation ternary complex" GO:1901192 oboInOwl:hasExactSynonym "activation of translation initiation ternary complex assembly" MONDO:0017048 oboInOwl:hasExactSynonym "gelatinous ascites" @@ -146397,20 +147988,22 @@ GO:1904221 oboInOwl:hasExactSynonym "down regulation of palmitoyl-CoA:L-serine C GO:0002829 oboInOwl:hasExactSynonym "down regulation of type 2 immune response" GO:0002829 oboInOwl:hasExactSynonym "down-regulation of type 2 immune response" GO:0002829 oboInOwl:hasExactSynonym "downregulation of type 2 immune response" +MONDO:0100490 oboInOwl:hasExactSynonym "breasts and/or nipples, aplasia or hypoplasia of, 1" +MONDO:0100490 oboInOwl:hasExactSynonym "BNAH1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP:0004341 oboInOwl:hasExactSynonym "Abnormality of the vitamin B12 metabolism" MONDO:0018489 oboInOwl:hasExactSynonym "anti-IgLON5 disease" MONDO:0018489 oboInOwl:hasExactSynonym "anti-IgLON5 syndrome" MONDO:0015923 oboInOwl:hasExactSynonym "acquired peripheral neuropathy" +HP:0003677 oboInOwl:hasExactSynonym "Slow disease progression" +HP:0003677 oboInOwl:hasExactSynonym "Signs and symptoms worsen slowly with time" http://purl.obolibrary.org/obo/hp.obo#layperson +HP:0003677 oboInOwl:hasExactSynonym "Slowly progressive disorder" +HP:0003677 oboInOwl:hasExactSynonym "Slow progression" MONDO:0005302 oboInOwl:hasExactSynonym "attention deficit disorder" MONDO:0005302 oboInOwl:hasExactSynonym "ADD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005302 oboInOwl:hasExactSynonym "attention deficit hyperactivity disorder, inattentive/distractible type" MONDO:0005302 oboInOwl:hasExactSynonym "hyperkinetic disorder" MONDO:0005302 oboInOwl:hasExactSynonym "attention deficit hyperactivity disorder, predominantly inattentive type" MONDO:0005302 oboInOwl:hasExactSynonym "ADHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -HP:0003677 oboInOwl:hasExactSynonym "Slow disease progression" -HP:0003677 oboInOwl:hasExactSynonym "Signs and symptoms worsen slowly with time" http://purl.obolibrary.org/obo/hp.obo#layperson -HP:0003677 oboInOwl:hasExactSynonym "Slowly progressive disorder" -HP:0003677 oboInOwl:hasExactSynonym "Slow progression" MONDO:0045019 oboInOwl:hasExactSynonym "disorder of lactation" MONDO:0045019 oboInOwl:hasExactSynonym "lactation disease" GO:0000096 oboInOwl:hasExactSynonym "sulphur amino acid metabolism" @@ -146445,6 +148038,7 @@ MONDO:0030458 oboInOwl:hasExactSynonym "CMT2HH" http://purl.obolibrary.org/obo/m MONDO:0018676 oboInOwl:hasExactSynonym "eosinophilic angiocentric fibrosis" MONDO:0018676 oboInOwl:hasExactSynonym "IgG4-related eosinophilic angiocentric fibrosis" MONDO:0035398 oboInOwl:hasExactSynonym "HEMS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011056 oboInOwl:hasExactSynonym "Wilms tumor, type 4" MONDO:0011056 oboInOwl:hasExactSynonym "Wilms tumor 4" MONDO:0011056 oboInOwl:hasExactSynonym "Wilms tumor type 4" NCBITaxon:7387 oboInOwl:hasExactSynonym "botflies" http://purl.obolibrary.org/obo/ncbitaxon#common_name @@ -146454,6 +148048,7 @@ MONDO:0007288 oboInOwl:hasExactSynonym "EPHA2 cataract (disease)" MONDO:0007288 oboInOwl:hasExactSynonym "cataract (disease) caused by mutation in EPHA2" MONDO:0007288 oboInOwl:hasExactSynonym "CTRCT6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018855 oboInOwl:hasExactSynonym "keratosis pilaris atrophicans" +MONDO:0013627 oboInOwl:hasExactSynonym "3-M syndrome 3" MONDO:0013627 oboInOwl:hasExactSynonym "3M syndrome 3" MONDO:0013627 oboInOwl:hasExactSynonym "CCDC8 3-M syndrome" MONDO:0013627 oboInOwl:hasExactSynonym "three M syndrome 3" @@ -146535,18 +148130,21 @@ MONDO:0006159 oboInOwl:hasExactSynonym "colorectal gastrointestinal stromal tumo MONDO:0006159 oboInOwl:hasExactSynonym "colorectal (colon or rectal) gastrointestinal stromal tumor (gist)" MONDO:0006159 oboInOwl:hasExactSynonym "colorectal gist" MONDO:0004761 oboInOwl:hasExactSynonym "obsolete urethral diverticulum (disease)" -MONDO:0007546 oboInOwl:hasExactSynonym "myeloproliferative disorder, chronic, with eosinophilia" MONDO:0010687 oboInOwl:hasExactSynonym "nephrolithiasis, X-linked recessive, with renal failure" +MONDO:0010687 oboInOwl:hasExactSynonym "nephrolithiasis, type i, X-linked recessive" +MONDO:0007546 oboInOwl:hasExactSynonym "myeloproliferative disorder, chronic, with eosinophilia" +MONDO:0007546 oboInOwl:hasExactSynonym "myeloproliferative disorder with eosinophilia" MONDO:0020752 oboInOwl:hasExactSynonym "EJM1" MONDO:0003954 oboInOwl:hasExactSynonym "Fordyce's spot" MONDO:0003954 oboInOwl:hasExactSynonym "Fordyce angiokeratoma" MONDO:0060711 oboInOwl:hasExactSynonym "Jaberi-Elahi syndrome" -MONDO:0010747 oboInOwl:hasExactSynonym "Lubag syndrome" -MONDO:0010747 oboInOwl:hasExactSynonym "DYT-TAF1" -MONDO:0010747 oboInOwl:hasExactSynonym "X-linked dystonia Parkinsonism" -MONDO:0010747 oboInOwl:hasExactSynonym "Lubag" MONDO:0010747 oboInOwl:hasExactSynonym "XDP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010747 oboInOwl:hasExactSynonym "Lubag syndrome" MONDO:0010747 oboInOwl:hasExactSynonym "DYT3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010747 oboInOwl:hasExactSynonym "Lubag" +MONDO:0010747 oboInOwl:hasExactSynonym "X-linked dystonia Parkinsonism" +MONDO:0010747 oboInOwl:hasExactSynonym "dystonia-Parkinsonism, X-linked, X-linked recessive" +MONDO:0010747 oboInOwl:hasExactSynonym "DYT-TAF1" MONDO:0044687 oboInOwl:hasExactSynonym "CRION" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0044687 oboInOwl:hasExactSynonym "chronic recurrent isolated optic neuritis" MONDO:0010923 oboInOwl:hasExactSynonym "proximal myopathy with focal depletion of mitochondria" @@ -146557,6 +148155,7 @@ MONDO:0004377 oboInOwl:hasExactSynonym "non-functional pancreatic Delta cell neu MONDO:0004377 oboInOwl:hasExactSynonym "non-functioning pancreatic Delta cell tumor" MONDO:0004377 oboInOwl:hasExactSynonym "non-functional pancreatic Delta cell NET" MONDO:0013120 oboInOwl:hasExactSynonym "46,XY sex reversal 5" +MONDO:0013120 oboInOwl:hasExactSynonym "46XY sex reversal 5" MONDO:0013120 oboInOwl:hasExactSynonym "46,XY Sex reversal type 5" PATO:0001671 oboInOwl:hasExactSynonym "high distribution" GO:2001259 oboInOwl:hasExactSynonym "positive regulation of nonselective cation channel activity" @@ -146610,6 +148209,7 @@ MONDO:0013448 oboInOwl:hasExactSynonym "GEFSP8" http://purl.obolibrary.org/obo/m MONDO:0013448 oboInOwl:hasExactSynonym "generalized epilepsy with febrile seizures plus, type 8" MONDO:0014561 oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type VII" MONDO:0014561 oboInOwl:hasExactSynonym "3-methylglutaconic aciduria type 7" +MONDO:0014561 oboInOwl:hasExactSynonym "3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia" MONDO:0014561 oboInOwl:hasExactSynonym "MEGCANN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014561 oboInOwl:hasExactSynonym "3-methylglutaconic aciduria caused by mutation in CLPB" MONDO:0014561 oboInOwl:hasExactSynonym "MGA7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -146631,6 +148231,7 @@ MONDO:0016505 oboInOwl:hasExactSynonym "Pure aldosterone-secreting adrenocortica MONDO:0016505 oboInOwl:hasExactSynonym "APAC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCBITaxon:121221 oboInOwl:hasExactSynonym "primate body lice" http://purl.obolibrary.org/obo/ncbitaxon#common_name NCBITaxon:121221 oboInOwl:hasExactSynonym "body lice" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name +MONDO:0010279 oboInOwl:hasExactSynonym "terminal osseous dysplasia, X-linked dominant" GO:1904479 oboInOwl:hasExactSynonym "down-regulation of intestinal absorption" GO:1904479 oboInOwl:hasExactSynonym "down regulation of intestinal absorption" GO:1904479 oboInOwl:hasExactSynonym "downregulation of intestinal absorption" @@ -146689,12 +148290,12 @@ MONDO:0017946 oboInOwl:hasExactSynonym "cerebral amyloid angiopathy, APP-related MONDO:0017946 oboInOwl:hasExactSynonym "HCHWA, Iowa type" MONDO:0017946 oboInOwl:hasExactSynonym "ABetaD23N amyloidosis" MONDO:0007325 oboInOwl:hasExactSynonym "choreoathetosis, familial inverted" -MONDO:0009380 oboInOwl:hasExactSynonym "Dubin-Johnson syndrome" -MONDO:0009380 oboInOwl:hasExactSynonym "chronic idiopathic jaundice" +MONDO:0009380 oboInOwl:hasExactSynonym "Dubin Johnson syndrome" MONDO:0009380 oboInOwl:hasExactSynonym "hyperbilirubinemia type 2" +MONDO:0009380 oboInOwl:hasExactSynonym "Dubin-Johnson syndrome" MONDO:0009380 oboInOwl:hasExactSynonym "Sprinz-Nelson syndrome" -MONDO:0009380 oboInOwl:hasExactSynonym "Dubin Johnson syndrome" MONDO:0009380 oboInOwl:hasExactSynonym "Dubin-Sprinz disease" +MONDO:0009380 oboInOwl:hasExactSynonym "chronic idiopathic jaundice" CHEBI:48854 oboInOwl:hasExactSynonym "trioxosulfuric acid" CHEBI:48854 oboInOwl:hasExactSynonym "dihydrogen trioxosulfate" CHEBI:48854 oboInOwl:hasExactSynonym "dihydroxidooxidosulfur" @@ -146708,9 +148309,11 @@ MONDO:0036595 oboInOwl:hasExactSynonym "Sertoli-Leydig neoplasm of ovary" MONDO:0036595 oboInOwl:hasExactSynonym "Sertoli-Leydig cell tumor of ovary" MONDO:0036595 oboInOwl:hasExactSynonym "Sertoli-Leydig cell tumor of the ovary" MONDO:0036595 oboInOwl:hasExactSynonym "arrhenoblastoma" +MONDO:0012790 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis 10, with or without FTD" MONDO:0012790 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis 10, with or without frontotemporal dementia" MONDO:0012790 oboInOwl:hasExactSynonym "ALS10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012790 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis 10" +MONDO:0012790 oboInOwl:hasExactSynonym "frontotemporal lobar degeneration, TARDBP-related" MONDO:0012790 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis caused by mutation in TARDBP" MONDO:0012790 oboInOwl:hasExactSynonym "TARDBP amyotrophic lateral sclerosis" MONDO:0012790 oboInOwl:hasExactSynonym "TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions" @@ -146873,6 +148476,7 @@ CHEBI:36856 oboInOwl:hasExactSynonym "hydrogen isocyanide" MONDO:0010949 oboInOwl:hasExactSynonym "hereditary motor and sensory nueropathy IIB" MONDO:0010949 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A" MONDO:0010949 oboInOwl:hasExactSynonym "HMSN2B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010949 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 2B" MONDO:0010949 oboInOwl:hasExactSynonym "RAB7A Charcot-Marie-Tooth disease type 2" MONDO:0010949 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2B" MONDO:0010949 oboInOwl:hasExactSynonym "autosomal dominant Charcot-Marie-Tooth disease type 2B" @@ -146888,6 +148492,7 @@ MONDO:0002639 oboInOwl:hasExactSynonym "glossopharyngeal nerve disease or disord MONDO:0002639 oboInOwl:hasExactSynonym "disorder of glossopharyngeal nerve" MONDO:0012601 oboInOwl:hasExactSynonym "autism, susceptibility to, 10" MONDO:0012601 oboInOwl:hasExactSynonym "AUTS10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0033571 oboInOwl:hasExactSynonym "Skeletal muscle glycogen content and metabolism QTL" CHEBI:38869 oboInOwl:hasExactSynonym "general anaesthetic" MONDO:0017591 oboInOwl:hasExactSynonym "CPFE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017244 oboInOwl:hasExactSynonym "Pseudoxanthomatous DCM" @@ -147002,6 +148607,7 @@ MONDO:0007661 oboInOwl:hasExactSynonym "Tourette disease" MONDO:0007661 oboInOwl:hasExactSynonym "psychogenic tics" MONDO:0007661 oboInOwl:hasExactSynonym "motor-verbal tic disorder" MONDO:0007661 oboInOwl:hasExactSynonym "Guinon's disease" +MONDO:0007661 oboInOwl:hasExactSynonym "Gilles de la Tourette syndrome, susceptibility to" MONDO:0007661 oboInOwl:hasExactSynonym "Tourette syndrome" GO:1904172 oboInOwl:hasExactSynonym "positive regulation of cell blebbing" GO:1904172 oboInOwl:hasExactSynonym "up regulation of cell blebbing" @@ -147045,6 +148651,7 @@ MONDO:0004566 oboInOwl:hasExactSynonym "postgastric surgery syndrome" MONDO:0010201 oboInOwl:hasExactSynonym "Winchester syndrome" MONDO:0010201 oboInOwl:hasExactSynonym "Winchester-Grossman syndrome" MONDO:0010201 oboInOwl:hasExactSynonym "WNCHRS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011434 oboInOwl:hasExactSynonym "psoriasis susceptibility 5" MONDO:0011434 oboInOwl:hasExactSynonym "PSORS5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011434 oboInOwl:hasExactSynonym "psoriasis 5, susceptibility to" MONDO:0006390 oboInOwl:hasExactSynonym "prostate gland small cell carcinoma" @@ -147066,9 +148673,11 @@ MONDO:0003629 oboInOwl:hasExactSynonym "uterine papillary serous carcinoma" MONDO:0003629 oboInOwl:hasExactSynonym "body of uterus serous adenocarcinoma" MONDO:0001377 oboInOwl:hasExactSynonym "vitreous degeneration" MONDO:0009590 oboInOwl:hasExactSynonym "metachromatic leukodystrophy due to saposin b deficiency" +MONDO:0009590 oboInOwl:hasExactSynonym "metachromatic leukodystrophy due to sap-b deficiency" MONDO:0054549 oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 10B" MONDO:0010307 oboInOwl:hasExactSynonym "intellectual disability, X-linked 73" MONDO:0010307 oboInOwl:hasExactSynonym "MRX73" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010307 oboInOwl:hasExactSynonym "mental retardation, X-linked 73, X-linked recessive" MONDO:0018581 oboInOwl:hasExactSynonym "perm" MONDO:0019912 oboInOwl:hasExactSynonym "UPD(6)mat" MONDO:0019912 oboInOwl:hasExactSynonym "maternal uniparental disomy of chromosome type 6" @@ -147115,7 +148724,6 @@ MONDO:0012875 oboInOwl:hasExactSynonym "inflammatory bowel disease type 21" MONDO:0012875 oboInOwl:hasExactSynonym "inflammatory bowel disease 21" MONDO:0012875 oboInOwl:hasExactSynonym "IBD21" http://purl.obolibrary.org/obo/mondo#ABBREVIATION ECTO:0010001 oboInOwl:hasExactSynonym "qualitative exposure" -MONDO:0013821 oboInOwl:hasExactSynonym "Coffin-Siris syndrome caused by mutation in SMARCA4" MONDO:0013821 oboInOwl:hasExactSynonym "COFFIN-SIRIS syndrome 4" MONDO:0013821 oboInOwl:hasExactSynonym "CSS4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013821 oboInOwl:hasExactSynonym "SMARCA4 Coffin-Siris syndrome" @@ -147126,6 +148734,7 @@ MONDO:0013821 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant t MONDO:0013821 oboInOwl:hasExactSynonym "SMARCA4-related BAFopathy" MONDO:0013821 oboInOwl:hasExactSynonym "autosomal dominant intellectual disability 16" MONDO:0013821 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant 16" +MONDO:0013821 oboInOwl:hasExactSynonym "Coffin-Siris syndrome caused by mutation in SMARCA4" MONDO:0015065 oboInOwl:hasExactSynonym "ileal neuroendocrine neoplasm" MONDO:0021404 oboInOwl:hasExactSynonym "sphenoid sinus polyp" MONDO:0021404 oboInOwl:hasExactSynonym "polyp of sphenoid sinus" @@ -147139,8 +148748,9 @@ MONDO:0016011 oboInOwl:hasExactSynonym "ARND" http://purl.obolibrary.org/obo/mon MONDO:0016011 oboInOwl:hasExactSynonym "FAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016011 oboInOwl:hasExactSynonym "ARBD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016011 oboInOwl:hasExactSynonym "alcohol-related neurodevelopmental disorder" -MONDO:0030268 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 6B" MONDO:0030268 oboInOwl:hasExactSynonym "DEE6B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0030268 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 6B" +MONDO:0030268 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 6B, non-Dravet" MONDO:0019528 oboInOwl:hasExactSynonym "inflammatory pseudotumor of the liver" MONDO:0012016 oboInOwl:hasExactSynonym "CM-AVM" MONDO:0007210 oboInOwl:hasExactSynonym "Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay" @@ -147149,29 +148759,31 @@ MONDO:0004824 oboInOwl:hasExactSynonym "neonatal candida infection" MONDO:0004824 oboInOwl:hasExactSynonym "neonatal Candida infection" MONDO:0004824 oboInOwl:hasExactSynonym "neonatal moniliasis" MONDO:0004824 oboInOwl:hasExactSynonym "neonatal Monilia infection" +MONDO:0020617 oboInOwl:hasExactSynonym "blood group, OK" MONDO:0010728 oboInOwl:hasExactSynonym "SCARF syndrome" CHEBI:33306 oboInOwl:hasExactSynonym "group 14 elements" -GO:0032729 oboInOwl:hasExactSynonym "up regulation of interferon-gamma production" -GO:0032729 oboInOwl:hasExactSynonym "up-regulation of interferon-gamma production" -GO:0032729 oboInOwl:hasExactSynonym "upregulation of interferon-gamma production" MONDO:0016467 oboInOwl:hasExactSynonym "fetal retinoid syndrome" MONDO:0016467 oboInOwl:hasExactSynonym "Retinoids embryopathy" MONDO:0016467 oboInOwl:hasExactSynonym "Isotretinoin embryopathy" MONDO:0016467 oboInOwl:hasExactSynonym "retinoic acid embryopathy" MONDO:0016467 oboInOwl:hasExactSynonym "fetal isotretinoin syndrome" +GO:0032729 oboInOwl:hasExactSynonym "up regulation of interferon-gamma production" +GO:0032729 oboInOwl:hasExactSynonym "up-regulation of interferon-gamma production" +GO:0032729 oboInOwl:hasExactSynonym "upregulation of interferon-gamma production" MONDO:0011863 oboInOwl:hasExactSynonym "prostate cancer aggressiveness quantitative trait locus on chromosome type 19" +MONDO:0011863 oboInOwl:hasExactSynonym "prostate cancer aggressiveness QTL" MONDO:0011863 oboInOwl:hasExactSynonym "prostate cancer aggressiveness quantitative trait locus on chromosome 19" NCBITaxon:31245 oboInOwl:hasExactSynonym "blood flukes" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name MONDO:0017413 oboInOwl:hasExactSynonym "RLS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0017413 oboInOwl:hasExactSynonym "multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome" MONDO:0015252 oboInOwl:hasExactSynonym "severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome" MONDO:0012374 oboInOwl:hasExactSynonym "brachyphalangy, polydactyly, and tibial aplasia/hypoplasia" -NCBITaxon:34621 oboInOwl:hasExactSynonym "American dog tick" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name MONDO:0013457 oboInOwl:hasExactSynonym "Leber congenital amaurosis 15" MONDO:0013457 oboInOwl:hasExactSynonym "TULP1 Leber congenital amaurosis" MONDO:0013457 oboInOwl:hasExactSynonym "Leber congenital amaurosis caused by mutation in TULP1" MONDO:0013457 oboInOwl:hasExactSynonym "LCA15" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013457 oboInOwl:hasExactSynonym "Leber congenital amaurosis type 15" +NCBITaxon:34621 oboInOwl:hasExactSynonym "American dog tick" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name MONDO:0014403 oboInOwl:hasExactSynonym "short stature due to growth hormone secretagogue receptor deficiency" MONDO:0014403 oboInOwl:hasExactSynonym "ghrelin receptor deficiency" MONDO:0018646 oboInOwl:hasExactSynonym "sclerosing cholangitis" @@ -147271,6 +148883,7 @@ MONDO:0014169 oboInOwl:hasExactSynonym "dyschromatosis universalis hereditaria 3 GO:0007059 oboInOwl:hasExactSynonym "chromosome division" MONDO:0018184 oboInOwl:hasExactSynonym "Borrmann gastric cancer type 4" MONDO:0018184 oboInOwl:hasExactSynonym "linitis plastica of the stomach" +MONDO:0030916 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities" MONDO:0030916 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant 50" MONDO:0004051 oboInOwl:hasExactSynonym "aleukemic monocytic leukemia cutis" MONDO:0016872 oboInOwl:hasExactSynonym "partial deletion of chromosome type 7" @@ -147279,6 +148892,7 @@ HP:0002797 oboInOwl:hasExactSynonym "Increased bone resorption" HP:0002797 oboInOwl:hasExactSynonym "Osteolytic defects of bones" HP:0002797 oboInOwl:hasExactSynonym "Breakdown of bone" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0008681 oboInOwl:hasExactSynonym "Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0008681 oboInOwl:hasExactSynonym "Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation" MONDO:0008681 oboInOwl:hasExactSynonym "monosomy 11p13" MONDO:0008681 oboInOwl:hasExactSynonym "deletion 11p13" MONDO:0008681 oboInOwl:hasExactSynonym "11p partial monosomy syndrome" @@ -147314,17 +148928,19 @@ MONDO:0100373 oboInOwl:hasExactSynonym "AML, inv(16)(p13q22)" MONDO:0100373 oboInOwl:hasExactSynonym "AML, inv(16)(p13.1q22)" MONDO:0100373 oboInOwl:hasExactSynonym "AML, inv(16)(p13;q22)" MONDO:0025354 oboInOwl:hasExactSynonym "spermatogenic failure, X-linked, 3" +MONDO:0025354 oboInOwl:hasExactSynonym "spermatogenic failure, X-linked, 3, X-linked recessive" MONDO:0025354 oboInOwl:hasExactSynonym "SPGFX3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032644 oboInOwl:hasExactSynonym "epidermodysplasia verruciformis 3" MONDO:0030047 oboInOwl:hasExactSynonym "microcephaly, developmental delay, and brittle hair syndrome" MONDO:0030047 oboInOwl:hasExactSynonym "MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME" MONDO:0030047 oboInOwl:hasExactSynonym "MDBH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003096 oboInOwl:hasExactSynonym "deep hemangioma" MONDO:0003096 oboInOwl:hasExactSynonym "deep angioma" +MONDO:0023094 oboInOwl:hasExactSynonym "exogenous ochronosis" GO:0004339 oboInOwl:hasExactSynonym "glucoamylase activity" MONDO:0010024 oboInOwl:hasExactSynonym "Beemer-Langer syndrome" MONDO:0010024 oboInOwl:hasExactSynonym "type IV short rib polydactyly syndrome" MONDO:0010024 oboInOwl:hasExactSynonym "short rib-polydactyly syndrome type 4" -MONDO:0023094 oboInOwl:hasExactSynonym "exogenous ochronosis" MONDO:0013247 oboInOwl:hasExactSynonym "Fanconi renotubular syndrome type 2" MONDO:0013247 oboInOwl:hasExactSynonym "SLC34A1 Fanconi syndrome" MONDO:0013247 oboInOwl:hasExactSynonym "Fanconi renotubular syndrome 2" @@ -147363,14 +148979,12 @@ MONDO:0000812 oboInOwl:hasExactSynonym "disease or disorder of vertebral column" MONDO:0000812 oboInOwl:hasExactSynonym "disease of spine" MONDO:0000812 oboInOwl:hasExactSynonym "vertebral column disease" MONDO:0000812 oboInOwl:hasExactSynonym "vertebral column disease or disorder" -MONDO:0013626 oboInOwl:hasExactSynonym "GPP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013626 oboInOwl:hasExactSynonym "familial generalized pustular psoriasis" MONDO:0013626 oboInOwl:hasExactSynonym "DITRA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013626 oboInOwl:hasExactSynonym "acrodermatitis continua of Hallopeau" MONDO:0013626 oboInOwl:hasExactSynonym "psoriasis 14, pustular" MONDO:0013626 oboInOwl:hasExactSynonym "palmoplantar pustulosis" MONDO:0013626 oboInOwl:hasExactSynonym "Interleukin 36 receptor antagonist deficiency" -MONDO:0013626 oboInOwl:hasExactSynonym "generalized pustular psoriasis" MONDO:0013626 oboInOwl:hasExactSynonym "IL36RN psoriasis" MONDO:0013626 oboInOwl:hasExactSynonym "deficiency of IL-36R antagonist" MONDO:0013626 oboInOwl:hasExactSynonym "deficiency of the interleukin-36 receptor antagonist" @@ -147405,8 +149019,8 @@ GO:1904222 oboInOwl:hasExactSynonym "upregulation of serine C-palmitoyltransfera GO:1904222 oboInOwl:hasExactSynonym "up regulation of 3-oxosphinganine synthetase activity" GO:1904222 oboInOwl:hasExactSynonym "up-regulation of serine C-palmitoyltransferase activity" GO:1904222 oboInOwl:hasExactSynonym "up-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity" -GO:1904222 oboInOwl:hasExactSynonym "upregulation of 3-oxosphinganine synthetase activity" GO:1904222 oboInOwl:hasExactSynonym "up regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity" +GO:1904222 oboInOwl:hasExactSynonym "upregulation of 3-oxosphinganine synthetase activity" GO:1904222 oboInOwl:hasExactSynonym "up-regulation of 3-oxosphinganine synthetase activity" MONDO:0024890 oboInOwl:hasExactSynonym "pineocytic tumor" MONDO:0024890 oboInOwl:hasExactSynonym "pineal parenchymal tumor" @@ -147421,6 +149035,7 @@ MONDO:0024890 oboInOwl:hasExactSynonym "pineal parenchymal neoplasm" MONDO:0024890 oboInOwl:hasExactSynonym "pineal parenchymal cell tumor" MONDO:0024890 oboInOwl:hasExactSynonym "neoplasm of pineal gland" MONDO:0013980 oboInOwl:hasExactSynonym "PPKP1B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013980 oboInOwl:hasExactSynonym "keratoderma, palmoplantar, punctate type IB" MONDO:0043468 oboInOwl:hasExactSynonym "acne keloid" MONDO:0043468 oboInOwl:hasExactSynonym "keloidal folliculitis" MONDO:0017236 oboInOwl:hasExactSynonym "RPGN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -147430,10 +149045,14 @@ MONDO:0015924 oboInOwl:hasExactSynonym "PAH" http://purl.obolibrary.org/obo/mond MONDO:0019023 oboInOwl:hasExactSynonym "cutaneous (skin) mastocytosis" MONDO:0019023 oboInOwl:hasExactSynonym "cutaneous mastocytosis (disease)" MONDO:0019023 oboInOwl:hasExactSynonym "CM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0019023 oboInOwl:hasExactSynonym "mastocytosis, cutaneous" MONDO:0019023 oboInOwl:hasExactSynonym "cutaneous mastocytosis" +MONDO:0019023 oboInOwl:hasExactSynonym "mastocytosis, systemic, somatic" GO:0003044 oboInOwl:hasExactSynonym "blood pressure regulation mediated by a chemical signal" +MONDO:0015278 oboInOwl:hasExactSynonym "pancreatic cancer, somatic" MONDO:0015278 oboInOwl:hasExactSynonym "familial pancreatic cancer" MONDO:0015278 oboInOwl:hasExactSynonym "hereditary pancreatic carcinoma" +MONDO:0015278 oboInOwl:hasExactSynonym "pancreatic carcinoma, somatic" MONDO:0015278 oboInOwl:hasExactSynonym "familial pancreatic carcinoma" MONDO:0015278 oboInOwl:hasExactSynonym "hereditary pancreatic cancer" MONDO:0015278 oboInOwl:hasExactSynonym "hereditary exocrine pancreatic carcinoma" @@ -147522,8 +149141,8 @@ MONDO:0013628 oboInOwl:hasExactSynonym "hyperphosphatasia with mental retardatio MONDO:0013628 oboInOwl:hasExactSynonym "PGAP2 hyperphosphatasia-intellectual disability syndrome" MONDO:0013628 oboInOwl:hasExactSynonym "hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2" MONDO:0002332 oboInOwl:hasExactSynonym "spleen disorder" -MONDO:0002332 oboInOwl:hasExactSynonym "spleen disease or disorder" MONDO:0002332 oboInOwl:hasExactSynonym "spleen disease" +MONDO:0002332 oboInOwl:hasExactSynonym "spleen disease or disorder" MONDO:0002332 oboInOwl:hasExactSynonym "splenic disorder" MONDO:0002332 oboInOwl:hasExactSynonym "disorder of spleen" MONDO:0002332 oboInOwl:hasExactSynonym "disease or disorder of spleen" @@ -147575,19 +149194,21 @@ MONDO:0043247 oboInOwl:hasExactSynonym "Mallory-Weiss syndrome" MONDO:0019466 oboInOwl:hasExactSynonym "LYG" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009450 oboInOwl:hasExactSynonym "ciliary dyskinesia with excessively long cilia" MONDO:0008894 oboInOwl:hasExactSynonym "CAHMR syndrome" -MONDO:0030309 oboInOwl:hasExactSynonym "mitochondrial complex 1 deficiency, nuclear type 38" -MONDO:0030309 oboInOwl:hasExactSynonym "Leber hereditary optic neuropathy, autosomal recessive" -MONDO:0030309 oboInOwl:hasExactSynonym "LHONAR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009536 oboInOwl:hasExactSynonym "lymphoblastic transformation, intrinsic defect type 1N" MONDO:0013449 oboInOwl:hasExactSynonym "LCA7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013449 oboInOwl:hasExactSynonym "Leber congenital amaurosis type 7" MONDO:0013449 oboInOwl:hasExactSynonym "Leber congenital amaurosis 7" MONDO:0013449 oboInOwl:hasExactSynonym "CRX Leber congenital amaurosis" MONDO:0013449 oboInOwl:hasExactSynonym "Leber congenital amaurosis caused by mutation in CRX" +MONDO:0030309 oboInOwl:hasExactSynonym "mitochondrial complex 1 deficiency, nuclear type 38" +MONDO:0030309 oboInOwl:hasExactSynonym "Leber hereditary optic neuropathy, autosomal recessive" +MONDO:0030309 oboInOwl:hasExactSynonym "LHONAR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003955 oboInOwl:hasExactSynonym "juvenile breast papillomatosis" MONDO:0003955 oboInOwl:hasExactSynonym "juvenile papillomatosis of the breast" MONDO:0003955 oboInOwl:hasExactSynonym "juvenile papillomatosis of breast" MONDO:0003955 oboInOwl:hasExactSynonym "Swiss cheese disease" +MONDO:0060712 oboInOwl:hasExactSynonym "Chung-Jansen syndrome" +MONDO:0010748 oboInOwl:hasExactSynonym "Goeminne TKCR syndrome" MONDO:0005116 oboInOwl:hasExactSynonym "Tropheryma whipplei caused disease or disorder" MONDO:0005116 oboInOwl:hasExactSynonym "intestinal lipodystrophy" MONDO:0005116 oboInOwl:hasExactSynonym "secondary non-tropical sprue" @@ -147604,20 +149225,21 @@ MONDO:0014914 oboInOwl:hasExactSynonym "Dias-Logan syndrome; DILOS" MONDO:0014914 oboInOwl:hasExactSynonym "Dias-Logan syndrome" MONDO:0014914 oboInOwl:hasExactSynonym "DILOS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0054743 oboInOwl:hasExactSynonym "polycystic liver disease 3 with or without kidney cysts" +MONDO:0015057 oboInOwl:hasExactSynonym "renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema" +MONDO:0015057 oboInOwl:hasExactSynonym "Raas-blocker-induced angioneurotic edema" +MONDO:0015057 oboInOwl:hasExactSynonym "Raas-blocker-induced angioedema" +MONDO:0015057 oboInOwl:hasExactSynonym "RAE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0021280 oboInOwl:hasExactSynonym "mucoepidermoid carcinoma of the parotid gland" MONDO:0021280 oboInOwl:hasExactSynonym "parotid mucoepidermoid carcinoma" MONDO:0021280 oboInOwl:hasExactSynonym "parotid gland mucoepidermoid carcinoma" MONDO:0021280 oboInOwl:hasExactSynonym "mucoepidermoid carcinoma of parotid" MONDO:0021280 oboInOwl:hasExactSynonym "mucoepidermoid carcinoma of the parotid" -MONDO:0015057 oboInOwl:hasExactSynonym "renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema" -MONDO:0015057 oboInOwl:hasExactSynonym "Raas-blocker-induced angioneurotic edema" -MONDO:0015057 oboInOwl:hasExactSynonym "Raas-blocker-induced angioedema" -MONDO:0015057 oboInOwl:hasExactSynonym "RAE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004378 oboInOwl:hasExactSynonym "childhood cerebral ependymoblastoma" MONDO:0004378 oboInOwl:hasExactSynonym "childhood cerebral embryonal tumor with Multilayered Rosettes, C19MC-altered" MONDO:0009066 oboInOwl:hasExactSynonym "juvenile cystinosis" MONDO:0009066 oboInOwl:hasExactSynonym "intermediate cystinosis" MONDO:0009066 oboInOwl:hasExactSynonym "juvenile nephropathic cystinosis" +MONDO:0009066 oboInOwl:hasExactSynonym "cystinosis, late-onset juvenile or adolescent nephropathic" MONDO:0013121 oboInOwl:hasExactSynonym "glaucoma 3, primary congenital, C" MONDO:0013121 oboInOwl:hasExactSynonym "GLC3C" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020971 oboInOwl:hasExactSynonym "gc urethritis" @@ -147735,6 +149357,7 @@ MONDO:0010210 oboInOwl:hasExactSynonym "xeroderma pigmentosum 1" MONDO:0010210 oboInOwl:hasExactSynonym "XPA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010210 oboInOwl:hasExactSynonym "XP1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010210 oboInOwl:hasExactSynonym "xeroderma pigmentosum, complementation group type a" +MONDO:0010210 oboInOwl:hasExactSynonym "xeroderma pigmentosum, group A" MONDO:0010210 oboInOwl:hasExactSynonym "xeroderma pigmentosum caused by mutation in XPA" MONDO:0010210 oboInOwl:hasExactSynonym "XP group A" MONDO:0010210 oboInOwl:hasExactSynonym "xeroderma pigmentosum complementation group A" @@ -147747,6 +149370,7 @@ MONDO:0014365 oboInOwl:hasExactSynonym "azoospermia caused by mutation in TAF4B" MONDO:0014365 oboInOwl:hasExactSynonym "spermatogenic failure type 13" MONDO:0014365 oboInOwl:hasExactSynonym "spermatogenic failure 13" MONDO:0010853 oboInOwl:hasExactSynonym "Helicobacter pylori infection, susceptibility to" +MONDO:0010853 oboInOwl:hasExactSynonym "H. pylori infection, susceptibility to" MONDO:0006106 oboInOwl:hasExactSynonym "benign tumor of the smooth muscle" MONDO:0006106 oboInOwl:hasExactSynonym "smooth muscle tissue benign neoplasm" MONDO:0006106 oboInOwl:hasExactSynonym "benign neoplasm of the smooth muscle" @@ -147814,18 +149438,19 @@ MONDO:0002263 oboInOwl:hasExactSynonym "disease of female reproductive system" MONDO:0002263 oboInOwl:hasExactSynonym "disorder of female reproductive system" MONDO:0002263 oboInOwl:hasExactSynonym "disorder of female genital system" MONDO:0002263 oboInOwl:hasExactSynonym "female reproductive disease" -NCBITaxon:34630 oboInOwl:hasExactSynonym "Rhipicephalus" http://purl.obolibrary.org/obo/ncbitaxon#scientific_name MONDO:0024535 oboInOwl:hasExactSynonym "IFIH1 singleton-Merten dysplasia" MONDO:0024535 oboInOwl:hasExactSynonym "singleton-Merten dysplasia caused by mutation in IFIH1" +NCBITaxon:34630 oboInOwl:hasExactSynonym "Rhipicephalus" http://purl.obolibrary.org/obo/ncbitaxon#scientific_name +MONDO:0015547 oboInOwl:hasExactSynonym "genetic dementia" MONDO:0020208 oboInOwl:hasExactSynonym "syndromic myopia (disease)" MONDO:0020208 oboInOwl:hasExactSynonym "syndrome associated with myopia (disease)" -MONDO:0015547 oboInOwl:hasExactSynonym "genetic dementia" MONDO:0003799 oboInOwl:hasExactSynonym "conjunctivitis" MONDO:0003799 oboInOwl:hasExactSynonym "pink eye" MONDO:0003799 oboInOwl:hasExactSynonym "conjunctivitis (disease)" MONDO:0003799 oboInOwl:hasExactSynonym "conjunctiva inflammation" MONDO:0003799 oboInOwl:hasExactSynonym "inflammation of conjunctiva" MONDO:0010391 oboInOwl:hasExactSynonym "angioma serpiginosum, X-linked" +MONDO:0010391 oboInOwl:hasExactSynonym "angio serpiginosum, X-linked dominant" GO:0002768 oboInOwl:hasExactSynonym "immune response-regulating cell surface receptor signalling pathway" CL:0002105 oboInOwl:hasExactSynonym "CD38+ IgG memory B lymphocyte" CL:0002105 oboInOwl:hasExactSynonym "CD38-positive IgG memory B-lymphocyte" @@ -147849,6 +149474,7 @@ MONDO:0005617 oboInOwl:hasExactSynonym "carcinoma, undifferentiated" MONDO:0005617 oboInOwl:hasExactSynonym "carcinoma, undifferentiated, malignant" MONDO:0005617 oboInOwl:hasExactSynonym "anaplastic carcinoma" MONDO:0005617 oboInOwl:hasExactSynonym "undifferentiated carcinoma" +MONDO:0013785 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly" MONDO:0013785 oboInOwl:hasExactSynonym "CRADD autosomal recessive non-syndromic intellectual disability" MONDO:0013785 oboInOwl:hasExactSynonym "autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD" MONDO:0013785 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 34" @@ -147892,6 +149518,7 @@ MONDO:0009476 oboInOwl:hasExactSynonym "Jejunoileal atresia" MONDO:0009476 oboInOwl:hasExactSynonym "apple peel syndrome" MONDO:0009476 oboInOwl:hasExactSynonym "small intestinal atresia" MONDO:0011614 oboInOwl:hasExactSynonym "3-hydroxy-3-methylglutaryl-CoA synthase deficiency" +MONDO:0011614 oboInOwl:hasExactSynonym "HMG-CoA synthase-2 deficiency" MONDO:0011614 oboInOwl:hasExactSynonym "HMG-CoA synthase deficiency" MONDO:0005147 oboInOwl:hasExactSynonym "insulin dependent diabetes" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0005147 oboInOwl:hasExactSynonym "insulin-dependent diabetes mellitus" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -147917,6 +149544,7 @@ MONDO:0009738 oboInOwl:hasExactSynonym "sialidosis type II" MONDO:0009738 oboInOwl:hasExactSynonym "dysmorphic sialidosis" MONDO:0009738 oboInOwl:hasExactSynonym "sialidosis caused by mutation in NEU1" MONDO:0009738 oboInOwl:hasExactSynonym "mucolipidosis I" +MONDO:0009738 oboInOwl:hasExactSynonym "sialidosis, type I" MONDO:0009738 oboInOwl:hasExactSynonym "dysmorphic sialidosis with renal involvement" MONDO:0019679 oboInOwl:hasExactSynonym "brachydactyly, Smorgasbord type" GO:0051251 oboInOwl:hasExactSynonym "upregulation of lymphocyte activation" @@ -148006,11 +149634,12 @@ MONDO:0001378 oboInOwl:hasExactSynonym "malignant neoplasm of urachus" MONDO:0019913 oboInOwl:hasExactSynonym "UPD(7)mat" MONDO:0019913 oboInOwl:hasExactSynonym "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7" GO:0044439 oboInOwl:hasExactSynonym "peroxisome component" -MONDO:0009068 oboInOwl:hasExactSynonym "isolated mitochondrial respiratory chain complex IV deficiency" MONDO:0009068 oboInOwl:hasExactSynonym "isolated COX deficiency" +MONDO:0009068 oboInOwl:hasExactSynonym "isolated mitochondrial respiratory chain complex IV deficiency" +MONDO:0009068 oboInOwl:hasExactSynonym "cytochrome-c oxidase deficiency disease" MONDO:0009068 oboInOwl:hasExactSynonym "cytochrome-C oxidase deficiency" MONDO:0009068 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency" -MONDO:0009068 oboInOwl:hasExactSynonym "cytochrome-c oxidase deficiency disease" +MONDO:0009068 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 1" MONDO:0018716 oboInOwl:hasExactSynonym "PICH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0006607 oboInOwl:hasExactSynonym "sebaceous gland disease or disorder" MONDO:0006607 oboInOwl:hasExactSynonym "disease or disorder of sebaceous gland" @@ -148044,7 +149673,9 @@ MONDO:0001449 oboInOwl:hasExactSynonym "lymphocytic meningitis" MONDO:0001449 oboInOwl:hasExactSynonym "lymphocytic choriomeningitis mammarenavirus infectious meningitis" MONDO:0001449 oboInOwl:hasExactSynonym "lymphocytic choriomeningitis mammarenavirus caused infectious meningitis" GO:0071625 oboInOwl:hasExactSynonym "vocalisation behaviour" +MONDO:0026765 oboInOwl:hasExactSynonym "congenital disorder of glycosylation, type IIr, X-linked recessive" MONDO:0025511 oboInOwl:hasExactSynonym "hereditary neuroendocrine neoplasm" +MONDO:0009255 oboInOwl:hasExactSynonym "galactokinase deficiency with cataracts" MONDO:0009255 oboInOwl:hasExactSynonym "GALK-D" MONDO:0009255 oboInOwl:hasExactSynonym "galactokinase deficiency galactosemia" MONDO:0009255 oboInOwl:hasExactSynonym "galactokinase deficiency" @@ -148055,7 +149686,6 @@ MONDO:0016758 oboInOwl:hasExactSynonym "Franek-Bocker-Kahlen syndrome" GO:0001976 oboInOwl:hasExactSynonym "neurological system process involved in regulation of systemic arterial blood pressure" GO:0001976 oboInOwl:hasExactSynonym "neurological process involved in regulation of systemic arterial blood pressure" GO:0001976 oboInOwl:hasExactSynonym "blood pressure regulation by neurological process" -MONDO:0012604 oboInOwl:hasExactSynonym "isolated microphthalmia caused by mutation in rax" MONDO:0012604 oboInOwl:hasExactSynonym "microphthalmia, isolated type 3" MONDO:0012604 oboInOwl:hasExactSynonym "isolated microphthalmia caused by mutation in RAX" MONDO:0012604 oboInOwl:hasExactSynonym "rax isolated microphthalmia" @@ -148063,6 +149693,7 @@ MONDO:0012604 oboInOwl:hasExactSynonym "isolated microphthalmia 3" MONDO:0012604 oboInOwl:hasExactSynonym "isolated microphthalmia type 3" MONDO:0012604 oboInOwl:hasExactSynonym "RAX isolated microphthalmia" MONDO:0012604 oboInOwl:hasExactSynonym "MCOP3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012604 oboInOwl:hasExactSynonym "isolated microphthalmia caused by mutation in rax" MONDO:0007211 oboInOwl:hasExactSynonym "Bilginturan syndrome" MONDO:0007211 oboInOwl:hasExactSynonym "brachydactyly type E, with short stature and hypertension" MONDO:0007211 oboInOwl:hasExactSynonym "Bilginturan brachydactyly" @@ -148079,6 +149710,7 @@ MONDO:0013635 oboInOwl:hasExactSynonym "Adams-Oliver syndrome caused by mutation MONDO:0009591 oboInOwl:hasExactSynonym "MLD, juvenile form" MONDO:0009591 oboInOwl:hasExactSynonym "metachromatic leukodystrophy, juvenile form" MONDO:0009591 oboInOwl:hasExactSynonym "arylsulfatase A deficiency, juvenile form" +MONDO:0010308 oboInOwl:hasExactSynonym "thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive" MONDO:0010308 oboInOwl:hasExactSynonym "thrombocytopenia, X-linked, with or without dyserythropoietic anemia" MONDO:0010308 oboInOwl:hasExactSynonym "X-linked thrombocytopenia, with or without dyserythropoietic Anemia" MONDO:0005619 oboInOwl:hasExactSynonym "typhoid" @@ -148104,10 +149736,13 @@ MONDO:0011793 oboInOwl:hasExactSynonym "celiac disease, susceptibility to, 5" MONDO:0011793 oboInOwl:hasExactSynonym "CELIAC5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0060704 oboInOwl:hasExactSynonym "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" MONDO:0010423 oboInOwl:hasExactSynonym "hypospadias 2, X-linked" +MONDO:0010423 oboInOwl:hasExactSynonym "hypospadias 2, X-linked, X-linked recessive" +MONDO:0012876 oboInOwl:hasExactSynonym "thrombophilia 10 due to heparin cofactor II deficiency" MONDO:0012876 oboInOwl:hasExactSynonym "heparin cofactor 2 deficiency" MONDO:0013822 oboInOwl:hasExactSynonym "acrodysostosis caused by mutation in PDE4D" MONDO:0013822 oboInOwl:hasExactSynonym "PDE4D acrodysostosis" MONDO:0013822 oboInOwl:hasExactSynonym "acrodysostosis 2 with or without hormone resistance" +MONDO:0013822 oboInOwl:hasExactSynonym "acrodysostosis 2, with or without hormone resistance" MONDO:0015066 oboInOwl:hasExactSynonym "appendiceal neuroendocrine neoplasm" MONDO:0015066 oboInOwl:hasExactSynonym "NEN of appendix" MONDO:0015066 oboInOwl:hasExactSynonym "appendix neuroendocrine tumor" @@ -148137,6 +149772,7 @@ MONDO:0013480 oboInOwl:hasExactSynonym "renal hypomagnesemia type 6" MONDO:0013480 oboInOwl:hasExactSynonym "HOMG6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011864 oboInOwl:hasExactSynonym "immunodeficiency, common variable, type 1" MONDO:0011864 oboInOwl:hasExactSynonym "immunodeficiency, common variable, 1" +MONDO:0012375 oboInOwl:hasExactSynonym "deafness, neurosensory, autosomal recessive 47" PATO:0001874 oboInOwl:hasExactSynonym "disk-shaped" PATO:0001874 oboInOwl:hasExactSynonym "disc-shaped" MONDO:0021039 oboInOwl:hasExactSynonym "extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor" @@ -148149,6 +149785,7 @@ MONDO:0009528 oboInOwl:hasExactSynonym "CRD" http://purl.obolibrary.org/obo/mond MONDO:0009528 oboInOwl:hasExactSynonym "Anderson disease" MONDO:0009528 oboInOwl:hasExactSynonym "chylomicron retention disease" MONDO:0033643 oboInOwl:hasExactSynonym "IBD30" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0033643 oboInOwl:hasExactSynonym "inflammatory bowel disease (Crohn disease) 30" MONDO:0000811 oboInOwl:hasExactSynonym "BWGS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000811 oboInOwl:hasExactSynonym "White-Garland syndrome" MONDO:0000811 oboInOwl:hasExactSynonym "ALCAPA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -148181,6 +149818,7 @@ NBO:0000170 oboInOwl:hasExactSynonym "memory behaviour" GO:0002521 oboInOwl:hasExactSynonym "leucocyte differentiation" GO:0002521 oboInOwl:hasExactSynonym "immune cell differentiation" ENVO:01000155 oboInOwl:hasExactSynonym "biomass" +MONDO:0014625 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 33" MONDO:0014625 oboInOwl:hasExactSynonym "EEF1A2 early infantile epileptic encephalopathy" MONDO:0014625 oboInOwl:hasExactSynonym "EIEE33" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014625 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 33" @@ -148216,8 +149854,8 @@ MONDO:0016702 oboInOwl:hasExactSynonym "mixed oligoastrocytoma" MONDO:0020365 oboInOwl:hasExactSynonym "congenital hereditary endothelial dystrophy type 1" MONDO:0020365 oboInOwl:hasExactSynonym "CHED1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020365 oboInOwl:hasExactSynonym "CHEDI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020365 oboInOwl:hasExactSynonym "autosomal dominant CHED" MONDO:0020365 oboInOwl:hasExactSynonym "autosomal dominant congenital hereditary endothelial dystrophy" +MONDO:0020365 oboInOwl:hasExactSynonym "autosomal dominant CHED" MONDO:0006998 oboInOwl:hasExactSynonym "malignant tumor of tonsil" MONDO:0006998 oboInOwl:hasExactSynonym "malignant neoplasm of tonsil, faucial" MONDO:0006998 oboInOwl:hasExactSynonym "malignant neoplasm of palatine tonsil" @@ -148268,8 +149906,8 @@ MONDO:0003097 oboInOwl:hasExactSynonym "childhood neurogenic neoplasm of the med MONDO:0003097 oboInOwl:hasExactSynonym "childhood mediastinal neurogenic neoplasm" MONDO:0003097 oboInOwl:hasExactSynonym "pediatric mediastinal neurogenic tumor" MONDO:0003097 oboInOwl:hasExactSynonym "childhood neurogenic tumor of mediastinum" -MONDO:0003097 oboInOwl:hasExactSynonym "pediatric neurogenic tumor of mediastinum" MONDO:0003097 oboInOwl:hasExactSynonym "pediatric neurogenic neoplasm of mediastinum" +MONDO:0003097 oboInOwl:hasExactSynonym "pediatric neurogenic tumor of mediastinum" MONDO:0003097 oboInOwl:hasExactSynonym "pediatric mediastinal neurogenic neoplasm" MONDO:0003097 oboInOwl:hasExactSynonym "childhood neurogenic neoplasm of mediastinum" MONDO:0006044 oboInOwl:hasExactSynonym "renal sclerosis" @@ -148306,6 +149944,7 @@ MONDO:0020074 oboInOwl:hasExactSynonym "PME" http://purl.obolibrary.org/obo/mond MONDO:0020074 oboInOwl:hasExactSynonym "epilepsy, progressive myoclonic" MONDO:0020074 oboInOwl:hasExactSynonym "progressive myoclonic epilepsy" MONDO:0008682 oboInOwl:hasExactSynonym "Drash syndrome" +MONDO:0008682 oboInOwl:hasExactSynonym "Denys-Drash syndrome, autosomal dominant, somatic mutation" MONDO:0008682 oboInOwl:hasExactSynonym "Denys Drash syndrome" MONDO:0008682 oboInOwl:hasExactSynonym "Denys-Drash syndrome" MONDO:0008682 oboInOwl:hasExactSynonym "nephrotic syndrome type 4" @@ -148421,6 +150060,7 @@ GO:1901716 oboInOwl:hasExactSynonym "down regulation of gamma-aminobutyric acid GO:1901716 oboInOwl:hasExactSynonym "inhibition of 4-aminobutanoate catabolism" GO:1901716 oboInOwl:hasExactSynonym "negative regulation of GABA catabolic process" GO:1901716 oboInOwl:hasExactSynonym "downregulation of GABA catabolic process" +MONDO:0013458 oboInOwl:hasExactSynonym "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis" MONDO:0013458 oboInOwl:hasExactSynonym "HUPRA syndrome" MONDO:0014404 oboInOwl:hasExactSynonym "hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome" MONDO:0014404 oboInOwl:hasExactSynonym "Webb-Dattani syndrome" @@ -148506,6 +150146,7 @@ MONDO:0021092 oboInOwl:hasExactSynonym "tumor of the fallopian tube" MONDO:0021092 oboInOwl:hasExactSynonym "neoplasm of fallopian tube" MONDO:0021092 oboInOwl:hasExactSynonym "neoplasm of the fallopian tube" MONDO:0004294 oboInOwl:hasExactSynonym "gestational ovarian choriocarcinoma" +MONDO:0032647 oboInOwl:hasExactSynonym "GLOW syndrome, somatic mosaic" MONDO:0011938 oboInOwl:hasExactSynonym "atrial septal defect type 2" MONDO:0011938 oboInOwl:hasExactSynonym "atrial septal defect 2" MONDO:0011938 oboInOwl:hasExactSynonym "atrial heart septal defect type 2" @@ -148517,17 +150158,18 @@ MONDO:0009264 oboInOwl:hasExactSynonym "eventration" MONDO:0009264 oboInOwl:hasExactSynonym "gastroschisis" MONDO:0009264 oboInOwl:hasExactSynonym "laparoschisis" MONDO:0002125 oboInOwl:hasExactSynonym "grand mal status" +MONDO:0010361 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 30, X-linked recessive" MONDO:0010361 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 30" MONDO:0010361 oboInOwl:hasExactSynonym "non-syndromic X-linked intellectual disability caused by mutation in PAK3" MONDO:0010361 oboInOwl:hasExactSynonym "mental retardation, X-linked type 30" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010361 oboInOwl:hasExactSynonym "PAK3 non-syndromic X-linked intellectual disability" MONDO:0010361 oboInOwl:hasExactSynonym "intellectual disability, X-linked 30" +MONDO:0024323 oboInOwl:hasExactSynonym "glomangiomyoma" MONDO:0005696 oboInOwl:hasExactSynonym "central nervous system tuberculosis" MONDO:0005696 oboInOwl:hasExactSynonym "tuberculosis of meninges and central nervous system" MONDO:0005696 oboInOwl:hasExactSynonym "tuberculoma of brain" MONDO:0005696 oboInOwl:hasExactSynonym "intracranial tuberculoma" MONDO:0005696 oboInOwl:hasExactSynonym "tuberculous abscess of brain" -MONDO:0024323 oboInOwl:hasExactSynonym "glomangiomyoma" MONDO:0008067 oboInOwl:hasExactSynonym "nasopharyngeal carcinoma, susceptibility to, 2" MONDO:0008067 oboInOwl:hasExactSynonym "nasopharyngeal carcinoma, susceptibility to, type 2" GO:0008152 oboInOwl:hasExactSynonym "metabolism" @@ -148583,12 +150225,12 @@ MONDO:0009654 oboInOwl:hasExactSynonym "mucopolysaccharidoses, unclassified type MONDO:0013122 oboInOwl:hasExactSynonym "glaucoma 3, primary congenital, D" MONDO:0013122 oboInOwl:hasExactSynonym "glaucoma 3, primary congenital, type D" MONDO:0002554 oboInOwl:hasExactSynonym "sympathetic schwannoma" -GO:0044273 oboInOwl:hasExactSynonym "sulfur compound degradation" -GO:0044273 oboInOwl:hasExactSynonym "sulfur compound catabolism" -GO:0044273 oboInOwl:hasExactSynonym "sulfur compound breakdown" MONDO:0021094 oboInOwl:hasExactSynonym "immuno-deficiency" MONDO:0021094 oboInOwl:hasExactSynonym "immunodeficiency disorder" MONDO:0021094 oboInOwl:hasExactSynonym "immunodeficiency" +GO:0044273 oboInOwl:hasExactSynonym "sulfur compound degradation" +GO:0044273 oboInOwl:hasExactSynonym "sulfur compound catabolism" +GO:0044273 oboInOwl:hasExactSynonym "sulfur compound breakdown" CHEBI:589779 oboInOwl:hasExactSynonym "piperidinium" MONDO:0008895 oboInOwl:hasExactSynonym "calcification of joints and arteries" MONDO:0008895 oboInOwl:hasExactSynonym "CALJA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -148643,12 +150285,12 @@ GO:0009142 oboInOwl:hasExactSynonym "nucleoside triphosphate synthesis" GO:0009142 oboInOwl:hasExactSynonym "nucleoside triphosphate formation" GO:0009142 oboInOwl:hasExactSynonym "nucleoside triphosphate biosynthesis" GO:0009142 oboInOwl:hasExactSynonym "nucleoside triphosphate anabolism" -MONDO:0006558 oboInOwl:hasExactSynonym "Herpes gestationis unspecified (disorder)" http://purl.obolibrary.org/obo/mondo#DEPRECATED -MONDO:0006558 oboInOwl:hasExactSynonym "gestational pemphigoid" MONDO:0006558 oboInOwl:hasExactSynonym "pemphigoid gestationis" +MONDO:0006558 oboInOwl:hasExactSynonym "gestational herpes" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0006558 oboInOwl:hasExactSynonym "Herpes gestationis NOS (disorder)" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0006558 oboInOwl:hasExactSynonym "Herpes gestationis unspecified (disorder)" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0006558 oboInOwl:hasExactSynonym "gestational pemphigoid" MONDO:0006558 oboInOwl:hasExactSynonym "Herpes gestationis" http://purl.obolibrary.org/obo/mondo#DEPRECATED -MONDO:0006558 oboInOwl:hasExactSynonym "gestational herpes" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0006558 oboInOwl:hasExactSynonym "Herpes gestationis (disorder)" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0100062 oboInOwl:hasExactSynonym "infantile epileptic encephalopathy" MONDO:0100062 oboInOwl:hasExactSynonym "Ohtahara syndrome" @@ -148688,6 +150330,7 @@ MONDO:0010211 oboInOwl:hasExactSynonym "XPC" http://purl.obolibrary.org/obo/mond MONDO:0010211 oboInOwl:hasExactSynonym "XP group C" MONDO:0010211 oboInOwl:hasExactSynonym "XP3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010211 oboInOwl:hasExactSynonym "XP-C" +MONDO:0010211 oboInOwl:hasExactSynonym "xeroderma pigmentosum, group C" MONDO:0020569 oboInOwl:hasExactSynonym "developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form" MONDO:0008487 oboInOwl:hasExactSynonym "polycystic ovary" MONDO:0008487 oboInOwl:hasExactSynonym "PCOS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -148716,6 +150359,7 @@ MONDO:0001387 oboInOwl:hasExactSynonym "penile sarcoma" MONDO:0001387 oboInOwl:hasExactSynonym "sarcoma of penis" MONDO:0014179 oboInOwl:hasExactSynonym "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3" MONDO:0014179 oboInOwl:hasExactSynonym "inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1" +MONDO:0014179 oboInOwl:hasExactSynonym "inclusion body myopathy with early-onset paget disease without frontotemporal dementia 3" MONDO:0014179 oboInOwl:hasExactSynonym "HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia" MONDO:0014179 oboInOwl:hasExactSynonym "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3" MONDO:0002333 oboInOwl:hasExactSynonym "splenic abscess (disease)" @@ -148724,6 +150368,7 @@ MONDO:0020406 oboInOwl:hasExactSynonym "CAVC type A" MONDO:0020406 oboInOwl:hasExactSynonym "complete atrioventricular canal type A" MONDO:0020406 oboInOwl:hasExactSynonym "CAVC-left heart obstruction syndrome" HP:0001929 oboInOwl:hasExactSynonym "Low factor XI activity" +MONDO:0011613 oboInOwl:hasExactSynonym "Parkinson disease 6, early onset" MONDO:0011613 oboInOwl:hasExactSynonym "PINK1 Parkinson disease" MONDO:0011613 oboInOwl:hasExactSynonym "early-onset Parkinson disease 6" MONDO:0011613 oboInOwl:hasExactSynonym "autosomal recessive early-onset Parkinson disease type 6" @@ -148755,6 +150400,7 @@ MONDO:0006278 oboInOwl:hasExactSynonym "lung papilloma" MONDO:0006278 oboInOwl:hasExactSynonym "respiratory tract papilloma" MONDO:0006278 oboInOwl:hasExactSynonym "papilloma of the respiratory tract" MONDO:0010854 oboInOwl:hasExactSynonym "oculoectodermal syndrome" +MONDO:0010854 oboInOwl:hasExactSynonym "oculoectodermal syndrome, somatic" MONDO:0010854 oboInOwl:hasExactSynonym "aplasia cutis congenita-epibulbar dermoids syndrome" MONDO:0006107 oboInOwl:hasExactSynonym "benign neoplasm of thyroid glands" MONDO:0006107 oboInOwl:hasExactSynonym "benign neoplasm of the thyroid" @@ -148783,8 +150429,8 @@ MONDO:0001777 oboInOwl:hasExactSynonym "gonococcal cystitis, acute" MONDO:0001777 oboInOwl:hasExactSynonym "acute gonorrhea of bladder" MONDO:0018981 oboInOwl:hasExactSynonym "benign nonfamilial neonatal seizures" MONDO:0018981 oboInOwl:hasExactSynonym "BINS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008745 oboInOwl:hasExactSynonym "oculocutaneous albinism caused by mutation in Tyr" MONDO:0008745 oboInOwl:hasExactSynonym "OCA1A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008745 oboInOwl:hasExactSynonym "oculocutaneous albinism caused by mutation in Tyr" MONDO:0008745 oboInOwl:hasExactSynonym "oculocutaneous albinism caused by mutation in TYR" MONDO:0008745 oboInOwl:hasExactSynonym "TYR oculocutaneous albinism" MONDO:0008745 oboInOwl:hasExactSynonym "oculocutaneous albinism, tyrosinase-negative" @@ -148793,6 +150439,7 @@ MONDO:0008745 oboInOwl:hasExactSynonym "tyrosinase-negative oculocutaneous albin GO:1900119 oboInOwl:hasExactSynonym "up regulation of execution phase of apoptosis" GO:1900119 oboInOwl:hasExactSynonym "upregulation of execution phase of apoptosis" GO:1900119 oboInOwl:hasExactSynonym "up-regulation of execution phase of apoptosis" +MONDO:0007548 oboInOwl:hasExactSynonym "transient bullous of the newborn" MONDO:0007548 oboInOwl:hasExactSynonym "transient bullous dermolysis of the newborn" MONDO:0007548 oboInOwl:hasExactSynonym "DEB, bullous dermolysis of the newborn" MONDO:0007548 oboInOwl:hasExactSynonym "DEB-BDN" @@ -148821,6 +150468,7 @@ MONDO:0004379 oboInOwl:hasExactSynonym "carcinoma of the female breast" MONDO:0016509 oboInOwl:hasExactSynonym "MPPC syndrome" MONDO:0011201 oboInOwl:hasExactSynonym "ETM2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011201 oboInOwl:hasExactSynonym "tremor, hereditary essential, 2" +MONDO:0011201 oboInOwl:hasExactSynonym "essential tremor, hereditary, 2" GO:0048522 oboInOwl:hasExactSynonym "up-regulation of cellular process" GO:0048522 oboInOwl:hasExactSynonym "positive regulation of cellular physiological process" GO:0048522 oboInOwl:hasExactSynonym "upregulation of cellular process" @@ -148835,15 +150483,16 @@ MONDO:0009477 oboInOwl:hasExactSynonym "CILD31" http://purl.obolibrary.org/obo/m MONDO:0009477 oboInOwl:hasExactSynonym "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" MONDO:0009477 oboInOwl:hasExactSynonym "apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome" MONDO:0009477 oboInOwl:hasExactSynonym "Stromme syndrome" +MONDO:0024883 oboInOwl:hasExactSynonym "metastatic disease" +MONDO:0024883 oboInOwl:hasExactSynonym "metastatic tumor" +MONDO:0024883 oboInOwl:hasExactSynonym "metastatic neoplasm" MONDO:0012384 oboInOwl:hasExactSynonym "panic disorder type 3" MONDO:0012384 oboInOwl:hasExactSynonym "panic disorder 3" MONDO:0011130 oboInOwl:hasExactSynonym "sebaceous gland hyperplasia, familial presenile" MONDO:0002264 oboInOwl:hasExactSynonym "atrophy of prostate" -MONDO:0024883 oboInOwl:hasExactSynonym "metastatic disease" -MONDO:0024883 oboInOwl:hasExactSynonym "metastatic tumor" -MONDO:0024883 oboInOwl:hasExactSynonym "metastatic neoplasm" MONDO:0024536 oboInOwl:hasExactSynonym "glucocorticoid deficiency 1" MONDO:0024536 oboInOwl:hasExactSynonym "MC2R familial glucocorticoid deficiency" +MONDO:0024536 oboInOwl:hasExactSynonym "glucocorticoid deficiency, due to ACTH unresponsiveness" MONDO:0024536 oboInOwl:hasExactSynonym "familial glucocorticoid deficiency caused by mutation in MC2R" MONDO:0012603 oboInOwl:hasExactSynonym "episodic kinesigenic dyskinesia 2" MONDO:0012603 oboInOwl:hasExactSynonym "episodic kinesigenic dyskinesia type 2" @@ -148923,28 +150572,40 @@ MONDO:0001608 oboInOwl:hasExactSynonym "vagus nerve neoplasm (disease)" MONDO:0001608 oboInOwl:hasExactSynonym "tumor of vagus nerve" MONDO:0005148 oboInOwl:hasExactSynonym "type II diabetes" MONDO:0005148 oboInOwl:hasExactSynonym "T2DM - type 2 diabetes mellitus" +MONDO:0005148 oboInOwl:hasExactSynonym "diabetes mellitus, noninsulin-dependent, association with" MONDO:0005148 oboInOwl:hasExactSynonym "type II diabetes mellitus" +MONDO:0005148 oboInOwl:hasExactSynonym "insulin resistance, severe, digenic" MONDO:0005148 oboInOwl:hasExactSynonym "adult onset diabetes" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0005148 oboInOwl:hasExactSynonym "diabetes mellitus, noninsulin-dependent, late onset" +MONDO:0005148 oboInOwl:hasExactSynonym "diabetes mellitus, type 2, susceptibility to" +MONDO:0005148 oboInOwl:hasExactSynonym "diabetes mellitus, type II, susceptibility to" MONDO:0005148 oboInOwl:hasExactSynonym "type 2 diabetes mellitus non-insulin dependent" MONDO:0005148 oboInOwl:hasExactSynonym "diabetes mellitis type II" MONDO:0005148 oboInOwl:hasExactSynonym "adult-onset diabetes" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0005148 oboInOwl:hasExactSynonym "diabetes mellitus, type II" MONDO:0005148 oboInOwl:hasExactSynonym "type 2 diabetes" MONDO:0005148 oboInOwl:hasExactSynonym "diabetes, type 2" MONDO:0005148 oboInOwl:hasExactSynonym "non-insulin dependent diabetes" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0005148 oboInOwl:hasExactSynonym "hypertension, insulin resistance-related, susceptibility to" +MONDO:0005148 oboInOwl:hasExactSynonym "diabetes mellitus, non-insulin-dependent, susceptibility to" MONDO:0005148 oboInOwl:hasExactSynonym "diabetes mellitis type 2" +MONDO:0005148 oboInOwl:hasExactSynonym "type 2 diabetes mellitus, susceptibility to" MONDO:0005148 oboInOwl:hasExactSynonym "diabetes mellitus, type 2" MONDO:0005148 oboInOwl:hasExactSynonym "noninsulin-dependent diabetes mellitus" +MONDO:0005148 oboInOwl:hasExactSynonym "diabetes mellitus, noninsulin-dependent, 2" MONDO:0005148 oboInOwl:hasExactSynonym "diabetes mellitus, noninsulin-dependent" MONDO:0005148 oboInOwl:hasExactSynonym "NIDDM" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0005148 oboInOwl:hasExactSynonym "type 2 diabetes mellitus" MONDO:0005148 oboInOwl:hasExactSynonym "non-insulin-dependent diabetes mellitus" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0005148 oboInOwl:hasExactSynonym "noninsulin dependent diabetes" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0005148 oboInOwl:hasExactSynonym "non-insulin dependent diabetes mellitus" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0005148 oboInOwl:hasExactSynonym "diabetes mellitus, noninsulin-dependent, susceptibility to" MONDO:0006222 oboInOwl:hasExactSynonym "gastric choriocarcinoma" MONDO:0007780 oboInOwl:hasExactSynonym "Brachycephalofrontonasal dysplasia" MONDO:0007780 oboInOwl:hasExactSynonym "craniofrontonasal dysplasia, Teebi type" MONDO:0007780 oboInOwl:hasExactSynonym "Teebi hypertelorism syndrome" MONDO:0007780 oboInOwl:hasExactSynonym "hypertelorism, Teebi type" +MONDO:0007780 oboInOwl:hasExactSynonym "Teebi hypertelorism syndrome 1" MONDO:0007780 oboInOwl:hasExactSynonym "Teebi syndrome" MONDO:0003808 oboInOwl:hasExactSynonym "mediastinal osteosarcoma" MONDO:0003808 oboInOwl:hasExactSynonym "osteosarcoma of mediastinum" @@ -148998,6 +150659,7 @@ MONDO:0025512 oboInOwl:hasExactSynonym "disorder of type II hypersensitivity" MONDO:0004451 oboInOwl:hasExactSynonym "sarcomatoid intrahepatic cholangiocarcinoma" MONDO:0004451 oboInOwl:hasExactSynonym "intrahepatic cholangiocarcinoma with extensive sarcomatous changes" MONDO:0054862 oboInOwl:hasExactSynonym "premature ovarian failure 15" +MONDO:0013374 oboInOwl:hasExactSynonym "supernumerary der(22)t(8-22) syndrome" MONDO:0013374 oboInOwl:hasExactSynonym "supernumerary der(22)t(8;22) syndrome" MONDO:0024315 oboInOwl:hasExactSynonym "parasitic endophthalmitis" MONDO:0003254 oboInOwl:hasExactSynonym "heart granular cell tumor" @@ -149033,6 +150695,7 @@ MONDO:0009069 oboInOwl:hasExactSynonym "SLSJ-COX deficiency" MONDO:0009069 oboInOwl:hasExactSynonym "Leigh syndrome, Saguenay-Lac-Saint-Jean type" MONDO:0009069 oboInOwl:hasExactSynonym "cytochrome C oxidase deficiency, French-Canadian type" MONDO:0009069 oboInOwl:hasExactSynonym "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" +MONDO:0009069 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)" MONDO:0009069 oboInOwl:hasExactSynonym "COX deficiency, French-Canadian type" MONDO:0018717 oboInOwl:hasExactSynonym "mixed cystic lymphangioma" MONDO:0006608 oboInOwl:hasExactSynonym "cradle Cap" @@ -149050,10 +150713,11 @@ MONDO:0005892 oboInOwl:hasExactSynonym "OME" http://purl.obolibrary.org/obo/mond MONDO:0005892 oboInOwl:hasExactSynonym "secretory otitis Media" MONDO:0005892 oboInOwl:hasExactSynonym "serous otitis Media" MONDO:0022357 oboInOwl:hasExactSynonym "acardia" -MONDO:0012877 oboInOwl:hasExactSynonym "MAFD8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012877 oboInOwl:hasExactSynonym "major affective disorder 8" MONDO:0010424 oboInOwl:hasExactSynonym "surfactant metabolism dysfunction, pulmonary, 4" MONDO:0010424 oboInOwl:hasExactSynonym "surfactant metabolism dysfunction, pulmonary, type 4" +MONDO:0012877 oboInOwl:hasExactSynonym "MAFD8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012877 oboInOwl:hasExactSynonym "major affective disorder-8, susceptibility to" +MONDO:0012877 oboInOwl:hasExactSynonym "major affective disorder 8" GO:0051338 oboInOwl:hasExactSynonym "transferase regulator" HP:0003826 oboInOwl:hasExactSynonym "Stillborn" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0003826 oboInOwl:hasExactSynonym "Stillbirth" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -149080,9 +150744,12 @@ ECTO:8000035 oboInOwl:hasExactSynonym "anthropogenic modulatory intervention pro MONDO:0010392 oboInOwl:hasExactSynonym "PGK1 glycogen storage disease" MONDO:0010392 oboInOwl:hasExactSynonym "glycogenosis due to phosphoglycerate kinase 1 deficiency" MONDO:0010392 oboInOwl:hasExactSynonym "glycogen storage disease caused by mutation in PGK1" +MONDO:0010392 oboInOwl:hasExactSynonym "phosphoglycerate kinase 1 deficiency, X-linked recessive" MONDO:0010392 oboInOwl:hasExactSynonym "GSD due to phosphoglycerate kinase 1 deficiency" MONDO:0010392 oboInOwl:hasExactSynonym "glycogen storage disease due to phosphoglycerate kinase 1 deficiency" +MONDO:0020619 oboInOwl:hasExactSynonym "blood group, Langereis system" MONDO:0014251 oboInOwl:hasExactSynonym "melioidosis, susceptibility to" +MONDO:0013481 oboInOwl:hasExactSynonym "chromosome 13q14 deletion syndrome, isolated cases" MONDO:0013481 oboInOwl:hasExactSynonym "deletion 13q14" MONDO:0013481 oboInOwl:hasExactSynonym "del(13q14)" MONDO:0013481 oboInOwl:hasExactSynonym "Del(13)(q14)" @@ -149128,6 +150795,7 @@ MONDO:0001721 oboInOwl:hasExactSynonym "intrinsic (urethral) sphincter deficienc MONDO:0060688 oboInOwl:hasExactSynonym "hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency" MONDO:0014626 oboInOwl:hasExactSynonym "spinocerebellar ataxia type 41" MONDO:0014626 oboInOwl:hasExactSynonym "SCA41" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +GO:1903708 oboInOwl:hasExactSynonym "up-regulation of hematopoiesis" GO:1903708 oboInOwl:hasExactSynonym "upregulation of haemopoiesis" GO:1903708 oboInOwl:hasExactSynonym "up regulation of hematopoiesis" GO:1903708 oboInOwl:hasExactSynonym "upregulation of blood cell biosynthesis" @@ -149142,9 +150810,8 @@ GO:1903708 oboInOwl:hasExactSynonym "up-regulation of blood cell biosynthesis" GO:1903708 oboInOwl:hasExactSynonym "upregulation of hematopoiesis" GO:1903708 oboInOwl:hasExactSynonym "up-regulation of hemopoiesis" GO:1903708 oboInOwl:hasExactSynonym "positive regulation of haemopoiesis" -GO:1903708 oboInOwl:hasExactSynonym "upregulation of blood cell formation" -GO:1903708 oboInOwl:hasExactSynonym "up-regulation of hematopoiesis" GO:1903708 oboInOwl:hasExactSynonym "positive regulation of hematopoiesis" +GO:1903708 oboInOwl:hasExactSynonym "upregulation of blood cell formation" GO:1903708 oboInOwl:hasExactSynonym "up-regulation of blood cell formation" GO:1903708 oboInOwl:hasExactSynonym "up regulation of blood cell formation" MONDO:0006999 oboInOwl:hasExactSynonym "disease or disorder of calcareous tooth" @@ -149182,9 +150849,6 @@ MONDO:0021398 oboInOwl:hasExactSynonym "rectum polyp" MONDO:0001229 oboInOwl:hasExactSynonym "small intestine diverticulitis" MONDO:0001229 oboInOwl:hasExactSynonym "diverticulosis of small intestine with hemorrhage" MONDO:0001229 oboInOwl:hasExactSynonym "diverticulitis of small intestine" -MONDO:0002303 oboInOwl:hasExactSynonym "retinal vein occlusion of central retinal vein" -MONDO:0002303 oboInOwl:hasExactSynonym "central retinal vein retinal vein occlusion" -MONDO:0002303 oboInOwl:hasExactSynonym "central retinal Venous occlusion" MONDO:0021227 oboInOwl:hasExactSynonym "adrenal tumor" MONDO:0021227 oboInOwl:hasExactSynonym "adrenal gland neoplasm (disease)" MONDO:0021227 oboInOwl:hasExactSynonym "adrenal gland tumor" @@ -149194,16 +150858,19 @@ MONDO:0021227 oboInOwl:hasExactSynonym "tumor of the adrenal gland" MONDO:0021227 oboInOwl:hasExactSynonym "tumor of adrenal gland" MONDO:0021227 oboInOwl:hasExactSynonym "neoplasm of the adrenal gland" MONDO:0021227 oboInOwl:hasExactSynonym "neoplasm of adrenal gland" -MONDO:0003861 oboInOwl:hasExactSynonym "mammalian vulva eccrine carcinoma" -MONDO:0003861 oboInOwl:hasExactSynonym "vulvar eccrine adenocarcinoma" -MONDO:0003861 oboInOwl:hasExactSynonym "eccrine carcinoma of mammalian vulva" +MONDO:0002303 oboInOwl:hasExactSynonym "retinal vein occlusion of central retinal vein" +MONDO:0002303 oboInOwl:hasExactSynonym "central retinal vein retinal vein occlusion" +MONDO:0002303 oboInOwl:hasExactSynonym "central retinal Venous occlusion" +ENVO:00000304 oboInOwl:hasExactSynonym "SHORE" +ENVO:00000304 oboInOwl:hasExactSynonym "shore" MONDO:0011438 oboInOwl:hasExactSynonym "frontalis acne" MONDO:0011438 oboInOwl:hasExactSynonym "acne (disease)" MONDO:0011438 oboInOwl:hasExactSynonym "acne" MONDO:0011438 oboInOwl:hasExactSynonym "acne vulgaris" MONDO:0011438 oboInOwl:hasExactSynonym "acne varioliformis" -ENVO:00000304 oboInOwl:hasExactSynonym "SHORE" -ENVO:00000304 oboInOwl:hasExactSynonym "shore" +MONDO:0003861 oboInOwl:hasExactSynonym "mammalian vulva eccrine carcinoma" +MONDO:0003861 oboInOwl:hasExactSynonym "vulvar eccrine adenocarcinoma" +MONDO:0003861 oboInOwl:hasExactSynonym "eccrine carcinoma of mammalian vulva" MONDO:0006045 oboInOwl:hasExactSynonym "ovarian clear cell adenocarcinoma" MONDO:0006045 oboInOwl:hasExactSynonym "ovary clear cell adenocarcinoma" MONDO:0006045 oboInOwl:hasExactSynonym "clear cell adenocarcinoma of ovary" @@ -149237,6 +150904,7 @@ GO:0002522 oboInOwl:hasExactSynonym "leucocyte migration during immune response" MONDO:0030918 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant 52" MONDO:0016874 oboInOwl:hasExactSynonym "partial deletion of chromosome type 9" MONDO:0016874 oboInOwl:hasExactSynonym "partial monosomy of chromosome 9" +MONDO:0010426 oboInOwl:hasExactSynonym "corneal dystrophy, endothelial, X-linked, X-linked dominant" MONDO:0010426 oboInOwl:hasExactSynonym "XECD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003744 oboInOwl:hasExactSynonym "spindle cell melanoma of the uvea" MONDO:0003744 oboInOwl:hasExactSynonym "spindle cell uveal melanoma" @@ -149248,6 +150916,7 @@ MONDO:0017142 oboInOwl:hasExactSynonym "rare bleeding disorder due to a constitu MONDO:0017142 oboInOwl:hasExactSynonym "rare hemorrhagic disorder due to a qualitative platelet defect" MONDO:0017142 oboInOwl:hasExactSynonym "rare bleeding disorder due to a qualitative platelet defect" MONDO:0017142 oboInOwl:hasExactSynonym "rare hemorrhagic disorder due to a constitutional thrombopathy" +MONDO:0012879 oboInOwl:hasExactSynonym "schizophrenia, susceptibility to, 14" MONDO:0012879 oboInOwl:hasExactSynonym "schizophrenia type 14" MONDO:0012879 oboInOwl:hasExactSynonym "schizophrenia 14" MONDO:0012879 oboInOwl:hasExactSynonym "SCZD14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -149289,15 +150958,16 @@ GO:1905636 oboInOwl:hasExactSynonym "up-regulation of RNA polymerase II regulato GO:1905636 oboInOwl:hasExactSynonym "upregulation of RNA polymerase II regulatory region sequence-specific DNA binding" GO:1905636 oboInOwl:hasExactSynonym "up regulation of RNA polymerase II regulatory region sequence-specific DNA binding" MONDO:0015184 oboInOwl:hasExactSynonym "rare genetic intestinal motility disease" -MONDO:0021960 oboInOwl:hasExactSynonym "ureteritis" MONDO:0009592 oboInOwl:hasExactSynonym "intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome" MONDO:0009592 oboInOwl:hasExactSynonym "Bellini syndrome" MONDO:0009592 oboInOwl:hasExactSynonym "metaphyseal acroscyphodysplasia" +MONDO:0021960 oboInOwl:hasExactSynonym "ureteritis" MONDO:0010309 oboInOwl:hasExactSynonym "intellectual disability, X-linked 42" MONDO:0010309 oboInOwl:hasExactSynonym "MRX42" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011867 oboInOwl:hasExactSynonym "microphthalmia with cyst, bilateral facial clefts, and limb anomalies" MONDO:0008090 oboInOwl:hasExactSynonym "neutropenia, periodic" MONDO:0008090 oboInOwl:hasExactSynonym "CH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008090 oboInOwl:hasExactSynonym "neutropenia, cyclic" MONDO:0008090 oboInOwl:hasExactSynonym "cyclic hematopoiesis" MONDO:0008090 oboInOwl:hasExactSynonym "CN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008090 oboInOwl:hasExactSynonym "periodic neutropenia" @@ -149317,6 +150987,7 @@ MONDO:0013084 oboInOwl:hasExactSynonym "NBLST4" http://purl.obolibrary.org/obo/m MONDO:0013084 oboInOwl:hasExactSynonym "neuroblastoma, susceptibility to, 4" MONDO:0020587 oboInOwl:hasExactSynonym "factor XI deficiency" MONDO:0010698 oboInOwl:hasExactSynonym "optic atrophy type 2" +MONDO:0010698 oboInOwl:hasExactSynonym "optic atrophy 2, X-linked" MONDO:0010698 oboInOwl:hasExactSynonym "OPA2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010698 oboInOwl:hasExactSynonym "non-Leber type optic atrophy with early-onset" MONDO:0010698 oboInOwl:hasExactSynonym "optic atrophy 2" @@ -149344,14 +151015,14 @@ HP:0004408 oboInOwl:hasExactSynonym "Abnormality of the sense of smell" http://p HP:0004408 oboInOwl:hasExactSynonym "Smell defect" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0100845 oboInOwl:hasExactSynonym "Anaphylaxis" http://purl.obolibrary.org/obo/hp.obo#layperson ECTO:0010003 oboInOwl:hasExactSynonym "physical object quality exposure" -GO:0045824 oboInOwl:hasExactSynonym "down regulation of innate immune response" -GO:0045824 oboInOwl:hasExactSynonym "down-regulation of innate immune response" -GO:0045824 oboInOwl:hasExactSynonym "downregulation of innate immune response" MONDO:0015067 oboInOwl:hasExactSynonym "carcinoid tumor of colon" MONDO:0015067 oboInOwl:hasExactSynonym "colonic NET" MONDO:0015067 oboInOwl:hasExactSynonym "neuroendocrine neoplasm of the colon" MONDO:0015067 oboInOwl:hasExactSynonym "NET of the colon" MONDO:0015067 oboInOwl:hasExactSynonym "colon neuroendocrine tumor" +GO:0045824 oboInOwl:hasExactSynonym "down regulation of innate immune response" +GO:0045824 oboInOwl:hasExactSynonym "down-regulation of innate immune response" +GO:0045824 oboInOwl:hasExactSynonym "downregulation of innate immune response" ENVO:01001206 oboInOwl:hasExactSynonym "GRASSLAND" ENVO:01001206 oboInOwl:hasExactSynonym "grassland" MONDO:0007876 oboInOwl:hasExactSynonym "laryngeal abductor paralysis" @@ -149512,6 +151183,7 @@ MONDO:0003263 oboInOwl:hasExactSynonym "childhood neoplasm of cerebellum" MONDO:0003263 oboInOwl:hasExactSynonym "childhood cerebellar tumor" MONDO:0003263 oboInOwl:hasExactSynonym "pediatric cerebellar neoplasm" MONDO:0008683 oboInOwl:hasExactSynonym "Wilms tumor 3" +MONDO:0008683 oboInOwl:hasExactSynonym "Wilms tumor, type 3" MONDO:0014008 oboInOwl:hasExactSynonym "Phosphohydroxylysinuria" MONDO:0014008 oboInOwl:hasExactSynonym "phosphohydroxylysinuria" MONDO:0018858 oboInOwl:hasExactSynonym "Piccardi-Lassueur-Little syndrome" @@ -149519,6 +151191,7 @@ MONDO:0018858 oboInOwl:hasExactSynonym "Graham Little syndrome" MONDO:0018060 oboInOwl:hasExactSynonym "congenital fibrinogen deficiency" GO:0006518 oboInOwl:hasExactSynonym "peptide metabolism" MONDO:0001114 oboInOwl:hasExactSynonym "septic myocarditis" +MONDO:0025356 oboInOwl:hasExactSynonym "azoospermia, obstructive, with nephrolithiasis, X-linked recessive" MONDO:0025356 oboInOwl:hasExactSynonym "OAZON" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003567 oboInOwl:hasExactSynonym "hypoactive labyrinth, bilateral" MONDO:0003567 oboInOwl:hasExactSynonym "hypoactive bilateral labyrinthine dysfunction" @@ -149618,6 +151291,7 @@ MONDO:0010362 oboInOwl:hasExactSynonym "glycogenosis type 9D" MONDO:0010362 oboInOwl:hasExactSynonym "muscle phosphorylase kinase deficiency" MONDO:0010362 oboInOwl:hasExactSynonym "glycogen storage disease type 9D" MONDO:0010362 oboInOwl:hasExactSynonym "glycogen storage disease caused by mutation in PHKA1" +MONDO:0010362 oboInOwl:hasExactSynonym "muscle glycogenosis, X-linked recessive" MONDO:0010362 oboInOwl:hasExactSynonym "glycogen storage disease type IXd" MONDO:0010362 oboInOwl:hasExactSynonym "GSD type 9D" MONDO:0010362 oboInOwl:hasExactSynonym "PHKA1 glycogen storage disease" @@ -149658,6 +151332,7 @@ MONDO:0015928 oboInOwl:hasExactSynonym "CTD-ILD" MONDO:0012541 oboInOwl:hasExactSynonym "microdontia-type I microtia-deafness syndrome" MONDO:0012541 oboInOwl:hasExactSynonym "LAMM syndrome" MONDO:0012541 oboInOwl:hasExactSynonym "deafness with labyrinthine aplasia, microtia, and microdontia" +MONDO:0012541 oboInOwl:hasExactSynonym "deafness, congenital with inner ear agenesis, microtia, and microdontia" GO:0007005 oboInOwl:hasExactSynonym "mitochondrion organisation" GO:0007005 oboInOwl:hasExactSynonym "mitochondria organization" GO:0070563 oboInOwl:hasExactSynonym "down-regulation of vitamin D receptor signaling pathway" @@ -149680,6 +151355,7 @@ MONDO:0005118 oboInOwl:hasExactSynonym "human anaplasmosis due to Anaplasma phag MONDO:0005118 oboInOwl:hasExactSynonym "human granulocytic anaplasmosis" MONDO:0014916 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 41" MONDO:0014916 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in SLC1A2" +MONDO:0014916 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 41" MONDO:0014916 oboInOwl:hasExactSynonym "DEE41" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014916 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 41" MONDO:0014916 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy, 41" @@ -149737,6 +151413,7 @@ MONDO:0006559 oboInOwl:hasExactSynonym "acne inversa" MONDO:0006559 oboInOwl:hasExactSynonym "ectopic acne" MONDO:0043982 oboInOwl:hasExactSynonym "cubital tunnel syndrome" MONDO:0010770 oboInOwl:hasExactSynonym "ubiquitin-activating enzyme, Y-linked" +MONDO:0012970 oboInOwl:hasExactSynonym "microvascular complications of diabetes 6" MONDO:0012970 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility to, 6" MONDO:0012970 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility to, type 6" MONDO:0012970 oboInOwl:hasExactSynonym "SOD2 microvascular complications of diabetes, susceptibility" @@ -149791,6 +151468,7 @@ GO:0042101 oboInOwl:hasExactSynonym "T lymphocyte receptor complex" MONDO:0021765 oboInOwl:hasExactSynonym "radiculitis" MONDO:0012793 oboInOwl:hasExactSynonym "hypouricemia, renal, 2" MONDO:0012793 oboInOwl:hasExactSynonym "hypouricemia, renal, type 2" +MONDO:0012793 oboInOwl:hasExactSynonym "uric acid concentration, serum, QTL 2" MONDO:0010212 oboInOwl:hasExactSynonym "xeroderma pigmentosum, complementation group type D" MONDO:0010212 oboInOwl:hasExactSynonym "XP group D" MONDO:0010212 oboInOwl:hasExactSynonym "XP group H" @@ -149804,6 +151482,7 @@ MONDO:0010212 oboInOwl:hasExactSynonym "xeroderma pigmentosum VIII" MONDO:0010212 oboInOwl:hasExactSynonym "xeroderma pigmentosum IV" MONDO:0010212 oboInOwl:hasExactSynonym "XPH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010212 oboInOwl:hasExactSynonym "XP-D" +MONDO:0010212 oboInOwl:hasExactSynonym "xeroderma pigmentosum, group D" MONDO:0010212 oboInOwl:hasExactSynonym "XP8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010212 oboInOwl:hasExactSynonym "xeroderma pigmentosum caused by mutation in ERCC2" MONDO:0006108 oboInOwl:hasExactSynonym "bile duct adenoma" @@ -149865,12 +151544,13 @@ MONDO:0001778 oboInOwl:hasExactSynonym "cystic skin teratoma" MONDO:0001778 oboInOwl:hasExactSynonym "skin dermoid cyst" MONDO:0001778 oboInOwl:hasExactSynonym "zone of skin dermoid cyst" MONDO:0001778 oboInOwl:hasExactSynonym "dermoid cyst of skin (finding)" +MONDO:0007150 oboInOwl:hasExactSynonym "arcus of cornea" MONDO:0007150 oboInOwl:hasExactSynonym "arcus senilis" MONDO:0007150 oboInOwl:hasExactSynonym "corneal arcus" -MONDO:0007150 oboInOwl:hasExactSynonym "arcus of cornea" MONDO:0005710 oboInOwl:hasExactSynonym "composite Hodgkin and non-Hodgkin lymphoma" MONDO:0005710 oboInOwl:hasExactSynonym "composite lymphoma" MONDO:0007549 oboInOwl:hasExactSynonym "DDEB, Pasini and Cockayne-Touraine types" +MONDO:0007549 oboInOwl:hasExactSynonym "epidermolysis bullosa dystrophica, AD" MONDO:0007549 oboInOwl:hasExactSynonym "DDEB, generalized" MONDO:0007549 oboInOwl:hasExactSynonym "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types" MONDO:0007549 oboInOwl:hasExactSynonym "DDEB-gen" @@ -149909,6 +151589,7 @@ MONDO:0013280 oboInOwl:hasExactSynonym "myxoid/round cell liposarcoma" MONDO:0018774 oboInOwl:hasExactSynonym "EKC syndrome" MONDO:0009655 oboInOwl:hasExactSynonym "Sanfilippo syndrome type A" MONDO:0009655 oboInOwl:hasExactSynonym "mucopolysaccharidosis type IIIA" +MONDO:0009655 oboInOwl:hasExactSynonym "mucopolysaccharidosis type IIIA (Sanfilippo A)" MONDO:0009655 oboInOwl:hasExactSynonym "mucopolysaccharidosis type 3A" MONDO:0009655 oboInOwl:hasExactSynonym "Sanfilippo A" MONDO:0009655 oboInOwl:hasExactSynonym "MPS III A" @@ -149949,6 +151630,7 @@ MONDO:0021282 oboInOwl:hasExactSynonym "immature teratoma of the testis" MONDO:0021282 oboInOwl:hasExactSynonym "immature testicular teratoma" MONDO:0021282 oboInOwl:hasExactSynonym "malignant testicular teratoma" MONDO:0013787 oboInOwl:hasExactSynonym "psychomotor retardation, epilepsy, and craniofacial dysmorphism" +MONDO:0013787 oboInOwl:hasExactSynonym "neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures" MONDO:0011202 oboInOwl:hasExactSynonym "RHYNS syndrome" MONDO:0011202 oboInOwl:hasExactSynonym "retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome" NCBITaxon:121224 oboInOwl:hasExactSynonym "human body lice" http://purl.obolibrary.org/obo/ncbitaxon#common_name @@ -149981,14 +151663,17 @@ MONDO:0006969 oboInOwl:hasExactSynonym "lymphadenitis (disease) of saliva-secret MONDO:0006969 oboInOwl:hasExactSynonym "sialoadenitis" MONDO:0006969 oboInOwl:hasExactSynonym "sialitis" MONDO:0006969 oboInOwl:hasExactSynonym "saliva-secreting gland lymphadenitis (disease)" -MONDO:0032908 oboInOwl:hasExactSynonym "MCTT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0032908 oboInOwl:hasExactSynonym "MN1 C-terminal truncation syndrome" +MONDO:0007915 oboInOwl:hasExactSynonym "lupus nephritis, susceptibility to" +MONDO:0007915 oboInOwl:hasExactSynonym "systemic lupus erythematosus, susceptibility to" MONDO:0007915 oboInOwl:hasExactSynonym "SLE - lupus erythematosus, systemic" MONDO:0007915 oboInOwl:hasExactSynonym "disseminated lupus erythematosus" MONDO:0007915 oboInOwl:hasExactSynonym "SLE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007915 oboInOwl:hasExactSynonym "systemic lupus erythematosus" MONDO:0007915 oboInOwl:hasExactSynonym "lupus erythematosus, systemic" +MONDO:0007915 oboInOwl:hasExactSynonym "systemic lupus erythematosus susceptibility to" MONDO:0007915 oboInOwl:hasExactSynonym "systemic lupus erythematosus (disease)" +MONDO:0032908 oboInOwl:hasExactSynonym "MCTT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032908 oboInOwl:hasExactSynonym "MN1 C-terminal truncation syndrome" MONDO:0005641 oboInOwl:hasExactSynonym "Aleutian disease" MONDO:0005641 oboInOwl:hasExactSynonym "Aleutian mink disease virus disease or disorder" MONDO:0005641 oboInOwl:hasExactSynonym "Aleutian mink disease virus caused disease or disorder" @@ -150075,6 +151760,7 @@ MONDO:0006444 oboInOwl:hasExactSynonym "teratoma with malignant transformation" MONDO:0006444 oboInOwl:hasExactSynonym "dermoid cyst with malignant transformation" MONDO:0004569 oboInOwl:hasExactSynonym "brachial plexus lesion" MONDO:0004569 oboInOwl:hasExactSynonym "brachial plexus lesions" +MONDO:0008746 oboInOwl:hasExactSynonym "albinism, oculocutaneous, type II, modifier of" MONDO:0008746 oboInOwl:hasExactSynonym "OCA2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008746 oboInOwl:hasExactSynonym "oculocutaneous albinism type 2" MONDO:0008746 oboInOwl:hasExactSynonym "oculocutaneous albinism, tyrosinase-positive" @@ -150082,9 +151768,11 @@ MONDO:0009820 oboInOwl:hasExactSynonym "OPPG" http://purl.obolibrary.org/obo/mon MONDO:0009820 oboInOwl:hasExactSynonym "ocular form of osteogenesis imperfecta" MONDO:0009820 oboInOwl:hasExactSynonym "osteoporosis-pseudoglioma syndrome" CHEBI:4551 oboInOwl:hasExactSynonym "(3beta,5beta,12beta)-3-{[2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl]oxy}-12,14-dihydroxycard-20(22)-enolide" +MONDO:0024539 oboInOwl:hasExactSynonym "choroidal dystrophy, central areolar 1" MONDO:0024539 oboInOwl:hasExactSynonym "choroidal dystrophy, central areolar, 1" MONDO:0024539 oboInOwl:hasExactSynonym "GUCY2D central areolar choroidal dystrophy" MONDO:0024539 oboInOwl:hasExactSynonym "central areolar choroidal dystrophy caused by mutation in GUCY2D" +MONDO:0026767 oboInOwl:hasExactSynonym "immunodeficiency 74, COVID19-related, X-linked, X-linked recessive" MONDO:0025513 oboInOwl:hasExactSynonym "autoimmune urticaria" MONDO:0025513 oboInOwl:hasExactSynonym "autoimmune urticaria (disease)" MONDO:0009257 oboInOwl:hasExactSynonym "galactose epimerase deficiency" @@ -150124,11 +151812,13 @@ MONDO:0017364 oboInOwl:hasExactSynonym "Takatsuki syndrome" MONDO:0017364 oboInOwl:hasExactSynonym "PEP syndrome" MONDO:0017364 oboInOwl:hasExactSynonym "osteosclerotic myeloma" MONDO:0017364 oboInOwl:hasExactSynonym "polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome" +MONDO:0044219 oboInOwl:hasExactSynonym "blood group, Duffy system" CHEBI:23123 oboInOwl:hasExactSynonym "chloroacetate" MONDO:0010425 oboInOwl:hasExactSynonym "band-shaped and whorled microcystic" MONDO:0010425 oboInOwl:hasExactSynonym "Lisch epithelial corneal dystrophy" MONDO:0010425 oboInOwl:hasExactSynonym "LECD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010425 oboInOwl:hasExactSynonym "band-shaped and whorled microcystic dystrophy of the corneal epithelium" +MONDO:0010425 oboInOwl:hasExactSynonym "corneal dystrophy, Lisch epithelial, X-linked dominant" MONDO:0012878 oboInOwl:hasExactSynonym "Cowden syndrome 2" MONDO:0012878 oboInOwl:hasExactSynonym "Cowden disease caused by mutation in SDHB" MONDO:0012878 oboInOwl:hasExactSynonym "Cowden syndrome type 2" @@ -150150,6 +151840,7 @@ MONDO:0010393 oboInOwl:hasExactSynonym "mental retardation, X-linked type 93" ht MONDO:0010393 oboInOwl:hasExactSynonym "BRWD3 non-syndromic X-linked intellectual disability" MONDO:0010393 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 93" MONDO:0010393 oboInOwl:hasExactSynonym "non-syndromic X-linked intellectual disability caused by mutation in BRWD3" +MONDO:0010393 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 93, X-linked recessive" MONDO:0009990 oboInOwl:hasExactSynonym "dyskeratosis congenita with bilateral exudative retinopathy" MONDO:0009990 oboInOwl:hasExactSynonym "Revesz-DeBuse syndrome" MONDO:0009990 oboInOwl:hasExactSynonym "Revesz syndrome" @@ -150157,18 +151848,13 @@ MONDO:0009990 oboInOwl:hasExactSynonym "dyskeratosis congenita, autosomal domina MONDO:0009990 oboInOwl:hasExactSynonym "exudative retinopathy with bone marrow failure" MONDO:0009990 oboInOwl:hasExactSynonym "DKCA5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009990 oboInOwl:hasExactSynonym "retinopathy-anemia-central nervous system anomalies syndrome" -MONDO:0044354 oboInOwl:hasExactSynonym "sinus histiocytosis with massive lymphadenopathy" -MONDO:0044354 oboInOwl:hasExactSynonym "RosaC/-Dorfman-Destombes disease" -MONDO:0044354 oboInOwl:hasExactSynonym "SHML" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0044354 oboInOwl:hasExactSynonym "Rosaï-Dorfman-Destombes disease" -MONDO:0044354 oboInOwl:hasExactSynonym "Destombes-Rosaï-Dorfman disease" -MONDO:0044354 oboInOwl:hasExactSynonym "Destombes-RosaC/-Dorfman disease" MONDO:0014252 oboInOwl:hasExactSynonym "FHBL1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014252 oboInOwl:hasExactSynonym "familial hypobetalipoproteinemia 1" MONDO:0014252 oboInOwl:hasExactSynonym "APOB hypobetalipoproteinemia" MONDO:0014252 oboInOwl:hasExactSynonym "hypobetalipoproteinemia caused by mutation in APOB" MONDO:0014252 oboInOwl:hasExactSynonym "familial hypobetalipoproteinemia type 1" MONDO:0014252 oboInOwl:hasExactSynonym "hypobetalipoproteinemia, familial, type 1" +MONDO:0014252 oboInOwl:hasExactSynonym "hypobetalipoproteinemia" MONDO:0013482 oboInOwl:hasExactSynonym "MKS8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013482 oboInOwl:hasExactSynonym "TCTN2 Meckel syndrome" MONDO:0013482 oboInOwl:hasExactSynonym "Meckel syndrome, type 8" @@ -150186,6 +151872,12 @@ MONDO:0004977 oboInOwl:hasExactSynonym "T-cell lymphoma, AILD type" MONDO:0004977 oboInOwl:hasExactSynonym "angioimmunoblastic lymphadenopathy with Dysproteinemia" MONDO:0003660 oboInOwl:hasExactSynonym "adult lymphoma" MONDO:0003660 oboInOwl:hasExactSynonym "lymphoma of adults" +MONDO:0044354 oboInOwl:hasExactSynonym "sinus histiocytosis with massive lymphadenopathy" +MONDO:0044354 oboInOwl:hasExactSynonym "RosaC/-Dorfman-Destombes disease" +MONDO:0044354 oboInOwl:hasExactSynonym "SHML" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0044354 oboInOwl:hasExactSynonym "Rosaï-Dorfman-Destombes disease" +MONDO:0044354 oboInOwl:hasExactSynonym "Destombes-Rosaï-Dorfman disease" +MONDO:0044354 oboInOwl:hasExactSynonym "Destombes-RosaC/-Dorfman disease" MONDO:0011866 oboInOwl:hasExactSynonym "VRK1 non-syndromic pontocerebellar hypoplasia" MONDO:0011866 oboInOwl:hasExactSynonym "non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1" MONDO:0012940 oboInOwl:hasExactSynonym "inflammatory bowel disease 24" @@ -150197,6 +151889,7 @@ GO:0034758 oboInOwl:hasExactSynonym "up regulation of iron ion transport" GO:0034758 oboInOwl:hasExactSynonym "up-regulation of iron ion transport" MONDO:0019353 oboInOwl:hasExactSynonym "Stargardt 1" MONDO:0019353 oboInOwl:hasExactSynonym "fundus flavimaculatus" +MONDO:0033645 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 11" MONDO:0033645 oboInOwl:hasExactSynonym "MC4DN11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016235 oboInOwl:hasExactSynonym "hemangiolymphangioma" GO:0008509 oboInOwl:hasExactSynonym "anion transporter activity" @@ -150206,16 +151899,28 @@ MONDO:0006223 oboInOwl:hasExactSynonym "primary diffuse large B-cell lymphoma of MONDO:0006223 oboInOwl:hasExactSynonym "primary gastric diffuse large B-cell lymphoma" MONDO:0006223 oboInOwl:hasExactSynonym "primary diffuse large B-cell lymphoma of the stomach" MONDO:0006223 oboInOwl:hasExactSynonym "primary diffuse large B-cell gastric lymphoma" +MONDO:0007781 oboInOwl:hasExactSynonym "hypertension, essential, susceptibility to, 3" MONDO:0007781 oboInOwl:hasExactSynonym "genetic essential hypertension" +MONDO:0007781 oboInOwl:hasExactSynonym "hypertension, susceptibility to" +MONDO:0007781 oboInOwl:hasExactSynonym "hypertension, essential, susceptibility to, 6" +MONDO:0007781 oboInOwl:hasExactSynonym "hypertension, essential, susceptibility to, 5" +MONDO:0007781 oboInOwl:hasExactSynonym "hypertension, essential, susceptibility to, 2" +MONDO:0007781 oboInOwl:hasExactSynonym "hypertension, essential, salt-sensitive" +MONDO:0007781 oboInOwl:hasExactSynonym "hypertension, salt-sensitive essential, susceptibility to" +MONDO:0007781 oboInOwl:hasExactSynonym "hypertension, essential, susceptibility to, 1" +MONDO:0007781 oboInOwl:hasExactSynonym "blood pressure regulation QTL" +MONDO:0007781 oboInOwl:hasExactSynonym "hypertension, essential, susceptibility to, 4" +MONDO:0007781 oboInOwl:hasExactSynonym "hypertension, essential, susceptibility to" MONDO:0005559 oboInOwl:hasExactSynonym "central nervous system neurodegenerative disorder" MONDO:0005559 oboInOwl:hasExactSynonym "central nervous system degenerative disorder" MONDO:0005559 oboInOwl:hasExactSynonym "neurodegenerative disease" MONDO:0005559 oboInOwl:hasExactSynonym "brain degeneration" MONDO:0005559 oboInOwl:hasExactSynonym "degenerative disorder of central nervous system" +MONDO:0007759 oboInOwl:hasExactSynonym "combined hyperlipidemia, familial" GO:0051253 oboInOwl:hasExactSynonym "downregulation of RNA metabolic process" GO:0051253 oboInOwl:hasExactSynonym "down-regulation of RNA metabolic process" -GO:0051253 oboInOwl:hasExactSynonym "negative regulation of RNA metabolism" GO:0051253 oboInOwl:hasExactSynonym "down regulation of RNA metabolic process" +GO:0051253 oboInOwl:hasExactSynonym "negative regulation of RNA metabolism" MONDO:0010811 oboInOwl:hasExactSynonym "benign prostatic hyperplasia - BPH" MONDO:0010811 oboInOwl:hasExactSynonym "benign prostatic hyperplasia" MONDO:0010811 oboInOwl:hasExactSynonym "benign prostate hyperplasia" @@ -150228,12 +151933,12 @@ MONDO:0001945 oboInOwl:hasExactSynonym "postencephalitic parkinsonism" MONDO:0001945 oboInOwl:hasExactSynonym "postencephalitic Parkinsonism" MONDO:0008935 oboInOwl:hasExactSynonym "Gordon-Holmes syndrome" MONDO:0008935 oboInOwl:hasExactSynonym "luteinizing hormone-releasing hormone deficiency with ataxia" +MONDO:0012598 oboInOwl:hasExactSynonym "GINGF4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012598 oboInOwl:hasExactSynonym "fibromatosis, gingival, 4" GO:0032812 oboInOwl:hasExactSynonym "positive regulation of adrenaline secretion" GO:0032812 oboInOwl:hasExactSynonym "up regulation of epinephrine secretion" GO:0032812 oboInOwl:hasExactSynonym "up-regulation of epinephrine secretion" GO:0032812 oboInOwl:hasExactSynonym "upregulation of epinephrine secretion" -MONDO:0012598 oboInOwl:hasExactSynonym "GINGF4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0012598 oboInOwl:hasExactSynonym "fibromatosis, gingival, 4" MONDO:0024286 oboInOwl:hasExactSynonym "benign blood vessel neoplasm" MONDO:0024286 oboInOwl:hasExactSynonym "benign blood vessel tumor" MONDO:0014627 oboInOwl:hasExactSynonym "dystonic disorder caused by mutation in COL6A3" @@ -150246,9 +151951,11 @@ MONDO:0007664 oboInOwl:hasExactSynonym "juvenile glaucoma caused by mutation in MONDO:0007664 oboInOwl:hasExactSynonym "JOAG1A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007664 oboInOwl:hasExactSynonym "MYOC juvenile glaucoma" MONDO:0007664 oboInOwl:hasExactSynonym "glaucoma 1, open angle, type A" +MONDO:0007664 oboInOwl:hasExactSynonym "glaucoma 1A, primary open angle" MONDO:0007664 oboInOwl:hasExactSynonym "MYOC juvenile open angle glaucoma" MONDO:0032657 oboInOwl:hasExactSynonym "EIEE69" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032657 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 69" +MONDO:0032657 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 69" MONDO:0032657 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69" MONDO:0032657 oboInOwl:hasExactSynonym "DEE69" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019728 oboInOwl:hasExactSynonym "HCDD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -150312,6 +152019,7 @@ MONDO:0011439 oboInOwl:hasExactSynonym "SCA12" http://purl.obolibrary.org/obo/mo MONDO:0016539 oboInOwl:hasExactSynonym "atypical HCS" MONDO:0006046 oboInOwl:hasExactSynonym "ovarian serous cystadenocarcinoma" MONDO:0017613 oboInOwl:hasExactSynonym "Medrano-Roldan syndrome" +MONDO:0013639 oboInOwl:hasExactSynonym "narcolepsy 6" MONDO:0013639 oboInOwl:hasExactSynonym "narcolepsy 6, susceptibility to" MONDO:0013639 oboInOwl:hasExactSynonym "NRCLP6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0045638 oboInOwl:hasExactSynonym "down regulation of myeloid cell differentiation" @@ -150327,19 +152035,20 @@ MONDO:0013085 oboInOwl:hasExactSynonym "NBLST5" http://purl.obolibrary.org/obo/m MONDO:0013085 oboInOwl:hasExactSynonym "neuroblastoma, susceptibility to, 5" MONDO:0020588 oboInOwl:hasExactSynonym "lung pecomatous tumor" MONDO:0020588 oboInOwl:hasExactSynonym "lung PEComa" -MONDO:0010699 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy X-linked recessive 5" +MONDO:0010699 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive" +MONDO:0010699 oboInOwl:hasExactSynonym "X-linked Charcot-Marie-Tooth disease type 5" +MONDO:0010699 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy, X-linked recessive, 5" +MONDO:0010699 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, X-linked recessive, 5" +MONDO:0010699 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease X-linked recessive type 5" +MONDO:0010699 oboInOwl:hasExactSynonym "CMTX5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010699 oboInOwl:hasExactSynonym "Rosenberg-Chutorian syndrome" -MONDO:0010699 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy X type 5" MONDO:0010699 oboInOwl:hasExactSynonym "familial opticoacoustic nerve degeneration and polyneuropathy" -MONDO:0010699 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy, X-linked recessive, 5" -MONDO:0010699 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, X-linked recessive, type 5" MONDO:0010699 oboInOwl:hasExactSynonym "CMT5X" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0010699 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease X-linked recessive type 5" -MONDO:0010699 oboInOwl:hasExactSynonym "optic atrophy, polyneuropathy, and deafness" -MONDO:0010699 oboInOwl:hasExactSynonym "X-linked Charcot-Marie-Tooth disease type 5" +MONDO:0010699 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy X-linked recessive 5" +MONDO:0010699 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, X-linked recessive, type 5" MONDO:0010699 oboInOwl:hasExactSynonym "optic atrophy, sensorineural hearing loss and polyneuropathy" -MONDO:0010699 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, X-linked recessive, 5" -MONDO:0010699 oboInOwl:hasExactSynonym "CMTX5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010699 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy X type 5" +MONDO:0010699 oboInOwl:hasExactSynonym "optic atrophy, polyneuropathy, and deafness" MONDO:0020764 oboInOwl:hasExactSynonym "Brown-Pearce tumor" MONDO:0020764 oboInOwl:hasExactSynonym "Brown-Pearce carcinoma" MONDO:0020764 oboInOwl:hasExactSynonym "epithelioma, Brown-Pearce" @@ -150417,6 +152126,7 @@ MONDO:0005901 oboInOwl:hasExactSynonym "Pasteurella caused disease or disorder" MONDO:0005901 oboInOwl:hasExactSynonym "Pasteurella disease or disorder" MONDO:0019781 oboInOwl:hasExactSynonym "astrocytoma" http://purl.obolibrary.org/obo/mondo#AMBIGUOUS MONDO:0009593 oboInOwl:hasExactSynonym "spondylometaphyseal dysplasia, Sedaghatian type" +MONDO:0011868 oboInOwl:hasExactSynonym "lethal congenital contractural syndrome 2" MONDO:0011868 oboInOwl:hasExactSynonym "ERBB3 lethal congenital contracture syndrome" MONDO:0011868 oboInOwl:hasExactSynonym "lethal congenital contracture syndrome caused by mutation in ERBB3" MONDO:0011868 oboInOwl:hasExactSynonym "lethal congenital contracture syndrome 2" @@ -150456,6 +152166,7 @@ MONDO:0014925 oboInOwl:hasExactSynonym "epilepsy, familial focal, with variable MONDO:0014925 oboInOwl:hasExactSynonym "FFEVF3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014925 oboInOwl:hasExactSynonym "NPRL3 epilepsy, familial focal, with variable foci" MONDO:0014925 oboInOwl:hasExactSynonym "epilepsy, familial focal, with variable foci caused by mutation in NPRL3" +MONDO:0015068 oboInOwl:hasExactSynonym "rectal neuroendocrine tumor" MONDO:0021291 oboInOwl:hasExactSynonym "carcinoma in situ of fundus of stomach" MONDO:0021291 oboInOwl:hasExactSynonym "carcinoma in situ of gastric fundus" MONDO:0021291 oboInOwl:hasExactSynonym "stage 0 fundus of stomach carcinoma" @@ -150466,7 +152177,6 @@ MONDO:0021291 oboInOwl:hasExactSynonym "carcinoma in situ of the gastric fundus" MONDO:0021291 oboInOwl:hasExactSynonym "gastric fundus carcinoma in situ aJCC v6 and v7" MONDO:0021291 oboInOwl:hasExactSynonym "stage 0 gastric fundus carcinoma" MONDO:0021291 oboInOwl:hasExactSynonym "fundus of stomach in situ carcinoma" -MONDO:0015068 oboInOwl:hasExactSynonym "rectal neuroendocrine tumor" MONDO:0016014 oboInOwl:hasExactSynonym "minoxidil antenatal infection" MONDO:0012448 oboInOwl:hasExactSynonym "autosomal dominant spastic paraplegia 33" MONDO:0012448 oboInOwl:hasExactSynonym "hereditary spastic paraplegia caused by mutation in ZFYVE27" @@ -150481,8 +152191,8 @@ MONDO:0019800 oboInOwl:hasExactSynonym "chronic acute hepatic porphyria" MONDO:0019800 oboInOwl:hasExactSynonym "acute hepatic porphyria, chronic" GO:1905123 oboInOwl:hasExactSynonym "regulation of glucocerebrosidase activity" GO:1905123 oboInOwl:hasExactSynonym "regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity" -GO:1905123 oboInOwl:hasExactSynonym "regulation of GCase activity" GO:1905123 oboInOwl:hasExactSynonym "regulation of ceramide glucosidase activity" +GO:1905123 oboInOwl:hasExactSynonym "regulation of GCase activity" GO:1905123 oboInOwl:hasExactSynonym "regulation of glucosylsphingosine beta-D-glucosidase activity" GO:1905123 oboInOwl:hasExactSynonym "regulation of acid beta-glucosidase activity" GO:1905123 oboInOwl:hasExactSynonym "regulation of beta-glucosylceramidase activity" @@ -150515,6 +152225,7 @@ MONDO:0018603 oboInOwl:hasExactSynonym "interstitial lung disease due to surfact MONDO:0014629 oboInOwl:hasExactSynonym "copa defect" MONDO:0014629 oboInOwl:hasExactSynonym "copa syndrome" MONDO:0012377 oboInOwl:hasExactSynonym "ASPG4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012377 oboInOwl:hasExactSynonym "Asperger syndrome susceptibility 4" MONDO:0019846 oboInOwl:hasExactSynonym "acquired central diabetes insipidus" MONDO:0019846 oboInOwl:hasExactSynonym "acquired neurogenic diabetes insipidus" MONDO:0019846 oboInOwl:hasExactSynonym "acquired CDI" @@ -150560,6 +152271,7 @@ MONDO:0003862 oboInOwl:hasExactSynonym "melanocytic psammomatous MPNST" MONDO:0003862 oboInOwl:hasExactSynonym "melanocytic psammomatous malignant peripheral nerve sheath tumor" MONDO:0010981 oboInOwl:hasExactSynonym "Holmes-Collins syndrome" GO:1902017 oboInOwl:hasExactSynonym "regulation of ciliogenesis" +MONDO:0044248 oboInOwl:hasExactSynonym "phenylthiocarbamide tasting" MONDO:0019384 oboInOwl:hasExactSynonym "epidemic encephalitis" MONDO:0019384 oboInOwl:hasExactSynonym "von Economo disease" MONDO:0019384 oboInOwl:hasExactSynonym "lethargic encephalitis" @@ -150621,15 +152333,18 @@ MONDO:0020076 oboInOwl:hasExactSynonym "CMPD, U" MONDO:0020076 oboInOwl:hasExactSynonym "CMPD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020076 oboInOwl:hasExactSynonym "myeloproliferative tumor" MONDO:0020076 oboInOwl:hasExactSynonym "chronic myeloproliferative disease" -MONDO:0005503 oboInOwl:hasExactSynonym "developmental disorder of mental health" +MONDO:0015350 oboInOwl:hasExactSynonym "chromosome 17q11.2 duplication syndrome, 1.4-mb" MONDO:0015350 oboInOwl:hasExactSynonym "trisomy 17q11.2" MONDO:0015350 oboInOwl:hasExactSynonym "dup(17)(q11.2)" MONDO:0015350 oboInOwl:hasExactSynonym "Grisart-Destree syndrome" +MONDO:0015350 oboInOwl:hasExactSynonym "Nf1 Microduplication Syndrome" MONDO:0015350 oboInOwl:hasExactSynonym "Grisart-Destrée syndrome" +MONDO:0005503 oboInOwl:hasExactSynonym "developmental disorder of mental health" MONDO:0008684 oboInOwl:hasExactSynonym "Pitt syndrome" MONDO:0008684 oboInOwl:hasExactSynonym "Wolf-Hirschhorn syndrome" MONDO:0008684 oboInOwl:hasExactSynonym "Wittwer syndrome" MONDO:0008684 oboInOwl:hasExactSynonym "4p deletion syndrome" +MONDO:0008684 oboInOwl:hasExactSynonym "Wolf-Hirschhorn syndrome, Isolated cases" MONDO:0008684 oboInOwl:hasExactSynonym "distal deletion 4p" MONDO:0008684 oboInOwl:hasExactSynonym "4p- syndrome" MONDO:0008684 oboInOwl:hasExactSynonym "chromosome 4p16.3 deletion syndrome" @@ -150709,6 +152424,7 @@ MONDO:0012613 oboInOwl:hasExactSynonym "autosomal recessive non-syndromic intell MONDO:0012613 oboInOwl:hasExactSynonym "NSUN2 autosomal recessive non-syndromic intellectual disability" MONDO:0012613 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 5" MONDO:0054581 oboInOwl:hasExactSynonym "Townes-Brocks syndrome 1" +MONDO:0054581 oboInOwl:hasExactSynonym "townes-brocks branchiootorenal-like syndrome" GO:1905207 oboInOwl:hasExactSynonym "regulation of heart cell differentiation" GO:1905207 oboInOwl:hasExactSynonym "regulation of cardiac cell differentiation" GO:0072362 oboInOwl:hasExactSynonym "regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter" @@ -150737,6 +152453,7 @@ CHEBI:28616 oboInOwl:hasExactSynonym "CARBAMIC ACID" CHEBI:28616 oboInOwl:hasExactSynonym "carbamic acid" MONDO:0012542 oboInOwl:hasExactSynonym "psoriasis 8, susceptibility to" MONDO:0012542 oboInOwl:hasExactSynonym "PSORS8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012542 oboInOwl:hasExactSynonym "psoriasis susceptibility 8" GO:0051650 oboInOwl:hasExactSynonym "establishment of vesicle localisation" MONDO:0016290 oboInOwl:hasExactSynonym "intellectual disability-epilepsy-bulbous nose syndrome" MONDO:0016909 oboInOwl:hasExactSynonym "partial monosomy of the long arm of chromosome type 10" @@ -150776,6 +152493,7 @@ MONDO:0014917 oboInOwl:hasExactSynonym "DEE42" http://purl.obolibrary.org/obo/mo MONDO:0014917 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 42; EIEE42" MONDO:0014917 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in CACNA1A" MONDO:0014917 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 42" +MONDO:0014917 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 42" MONDO:0014917 oboInOwl:hasExactSynonym "EIEE42" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014917 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 42" CL:0002303 oboInOwl:hasExactSynonym "PE" @@ -150783,6 +152501,7 @@ MONDO:0014096 oboInOwl:hasExactSynonym "Woods-Crouchman-Huson syndrome" MONDO:0010584 oboInOwl:hasExactSynonym "dyskeratosis congenita, X-linked" MONDO:0010584 oboInOwl:hasExactSynonym "X-linked dyskeratosis congenita" MONDO:0010584 oboInOwl:hasExactSynonym "Hoyeraal Hreidarsson syndrome" +MONDO:0010584 oboInOwl:hasExactSynonym "dyskeratosis congenita, X-linked, X-linked recessive" MONDO:0010584 oboInOwl:hasExactSynonym "Zinsser-Cole-Engman syndrome" MONDO:0010584 oboInOwl:hasExactSynonym "DKCX" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0032984 oboInOwl:hasExactSynonym "protein complex disassembly" @@ -150823,6 +152542,7 @@ MONDO:0010771 oboInOwl:hasExactSynonym "infantile xanthomatous cardiomyopathy" MONDO:0012971 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility to, type 7" MONDO:0012971 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility caused by mutation in HFE" MONDO:0012971 oboInOwl:hasExactSynonym "HFE microvascular complications of diabetes, susceptibility" +MONDO:0012971 oboInOwl:hasExactSynonym "microvascular complications of diabetes 7" MONDO:0012971 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility to, 7" MONDO:0015107 oboInOwl:hasExactSynonym "rare genetic eye disease" MONDO:0015107 oboInOwl:hasExactSynonym "rare genetic ophthalmologic disease" @@ -150897,6 +152617,7 @@ MONDO:0012615 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive MONDO:0012615 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 7" MONDO:0012615 oboInOwl:hasExactSynonym "TUSC3 autosomal recessive non-syndromic intellectual disability" MONDO:0007222 oboInOwl:hasExactSynonym "BDD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010363 oboInOwl:hasExactSynonym "mental retardation, X-linked 91, X-linked dominant" MONDO:0010363 oboInOwl:hasExactSynonym "ZDHHC15 non-syndromic X-linked intellectual disability" MONDO:0010363 oboInOwl:hasExactSynonym "intellectual disability, X-linked 91" MONDO:0010363 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 91" @@ -150948,13 +152669,14 @@ MONDO:0054748 oboInOwl:hasExactSynonym "Fanconi anemia, complementation group S" MONDO:0019972 oboInOwl:hasExactSynonym "cranial dural arteriovenous malformations" MONDO:0019972 oboInOwl:hasExactSynonym "cranial dural arteriovenous fistula" MONDO:0018775 oboInOwl:hasExactSynonym "axonal HMSN" -MONDO:0009656 oboInOwl:hasExactSynonym "mucopolysaccharidosis type 3B" -MONDO:0009656 oboInOwl:hasExactSynonym "MPS III B" MONDO:0009656 oboInOwl:hasExactSynonym "mucopolysaccharidosis type IIIB" -MONDO:0009656 oboInOwl:hasExactSynonym "MPSIIIB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009656 oboInOwl:hasExactSynonym "MPS III B" +MONDO:0009656 oboInOwl:hasExactSynonym "MPS3B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009656 oboInOwl:hasExactSynonym "Sanfilippo B" +MONDO:0009656 oboInOwl:hasExactSynonym "mucopolysaccharidosis type 3B" +MONDO:0009656 oboInOwl:hasExactSynonym "MPSIIIB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009656 oboInOwl:hasExactSynonym "N-acetyl-alpha-glucosaminidase deficiency" -MONDO:0009656 oboInOwl:hasExactSynonym "MPS3B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009656 oboInOwl:hasExactSynonym "mucopolysaccharidosis type IIIB (Sanfilippo B)" MONDO:0013124 oboInOwl:hasExactSynonym "pelvic organ prolapse, susceptibility to, type 2" MONDO:0013124 oboInOwl:hasExactSynonym "pelvic organ prolapse, susceptibility to, 2" MONDO:0014682 oboInOwl:hasExactSynonym "HABP2 thyroid cancer, nonmedullary" @@ -150968,10 +152690,11 @@ MONDO:0021096 oboInOwl:hasExactSynonym "papillary epithelial neoplasm" GO:0044275 oboInOwl:hasExactSynonym "cellular carbohydrate degradation" GO:0044275 oboInOwl:hasExactSynonym "cellular carbohydrate catabolism" GO:0044275 oboInOwl:hasExactSynonym "cellular carbohydrate breakdown" +MONDO:0010621 oboInOwl:hasExactSynonym "congenital hemidysplasia with ichthyosiform nevus and limbs defects" MONDO:0010621 oboInOwl:hasExactSynonym "child syndrome" MONDO:0010621 oboInOwl:hasExactSynonym "child nevus" +MONDO:0010621 oboInOwl:hasExactSynonym "CHILD syndrome, X-linked dominant" MONDO:0010621 oboInOwl:hasExactSynonym "CHILD syndrome" -MONDO:0010621 oboInOwl:hasExactSynonym "congenital hemidysplasia with ichthyosiform nevus and limbs defects" CHEBI:33708 oboInOwl:hasExactSynonym "amino-acid residue" GO:0098660 oboInOwl:hasExactSynonym "transmembrane inorganic ion transport" GO:0098660 oboInOwl:hasExactSynonym "inorganic ion membrane transport" @@ -150979,23 +152702,27 @@ HP:0001920 oboInOwl:hasExactSynonym "Narrowing of kidney artery" http://purl.obo MONDO:0012386 oboInOwl:hasExactSynonym "Trichoscyphodysplasia" MONDO:0024885 oboInOwl:hasExactSynonym "malignant ovarian serous tumor" MONDO:0024885 oboInOwl:hasExactSynonym "ovarian serous tumor, malignant" +MONDO:0024538 oboInOwl:hasExactSynonym "IBGC2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024538 oboInOwl:hasExactSynonym "basal ganglia calcification, idiopathic, 1" MONDO:0024538 oboInOwl:hasExactSynonym "basal ganglia calcification, idiopathic, type 1" MONDO:0024538 oboInOwl:hasExactSynonym "idiopathic basal ganglia calcification 1" +MONDO:0024538 oboInOwl:hasExactSynonym "basal ganglia calcification, idiopathic, 2" MONDO:0024538 oboInOwl:hasExactSynonym "IBGC1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003453 oboInOwl:hasExactSynonym "conjunctiva intraepithelial neoplasia" MONDO:0003453 oboInOwl:hasExactSynonym "intraepithelial neoplasia of conjunctiva" MONDO:0003453 oboInOwl:hasExactSynonym "intraepithelial neoplasia of the conjunctiva" MONDO:0003453 oboInOwl:hasExactSynonym "conjunctival intraepithelial neoplasia" -MONDO:0007916 oboInOwl:hasExactSynonym "Waldmann disease" GO:2000113 oboInOwl:hasExactSynonym "negative regulation of cellular macromolecule biosynthesis" GO:2000113 oboInOwl:hasExactSynonym "negative regulation of cellular macromolecule formation" GO:2000113 oboInOwl:hasExactSynonym "negative regulation of cellular biopolymer biosynthetic process" GO:2000113 oboInOwl:hasExactSynonym "negative regulation of cellular macromolecule anabolism" GO:2000113 oboInOwl:hasExactSynonym "negative regulation of cellular macromolecule synthesis" +MONDO:0007916 oboInOwl:hasExactSynonym "Waldmann disease" MONDO:0009539 oboInOwl:hasExactSynonym "lymphoblastic leukemia, acute, with lymphomatous features" +MONDO:0009539 oboInOwl:hasExactSynonym "leukemia, acute lymphoblastic" MONDO:0000950 oboInOwl:hasExactSynonym "accommodative strain" MONDO:0012112 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, type 10" +MONDO:0012112 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 10" MONDO:0012112 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, 10" MONDO:0012112 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy 10" MONDO:0012112 oboInOwl:hasExactSynonym "MYL2 hypertrophic cardiomyopathy" @@ -151007,7 +152734,6 @@ MONDO:0014565 oboInOwl:hasExactSynonym "cataract type 43" MONDO:0014565 oboInOwl:hasExactSynonym "early-onset non-syndromic cataract caused by mutation in UNC45B" MONDO:0014565 oboInOwl:hasExactSynonym "cataract 43" MONDO:0014565 oboInOwl:hasExactSynonym "CTRCT43" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -HP:0001541 oboInOwl:hasExactSynonym "Accumulation of fluid in the abdomen" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0019018 oboInOwl:hasExactSynonym "ballooning cardiomyopathy" MONDO:0019018 oboInOwl:hasExactSynonym "stress cardiomyopathy" MONDO:0019018 oboInOwl:hasExactSynonym "transient left ventricular apical ballooning syndrome" @@ -151017,6 +152743,7 @@ MONDO:0019018 oboInOwl:hasExactSynonym "Tako-Tsubo syndrome" MONDO:0019018 oboInOwl:hasExactSynonym "Takotsubo syndrome" MONDO:0019018 oboInOwl:hasExactSynonym "broken heart syndrome" MONDO:0019018 oboInOwl:hasExactSynonym "Takotsubo cardiomyopathy" +HP:0001541 oboInOwl:hasExactSynonym "Accumulation of fluid in the abdomen" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0021283 oboInOwl:hasExactSynonym "immature malignant teratoma of mediastinum" MONDO:0021283 oboInOwl:hasExactSynonym "immature malignant teratoma of the mediastinum" MONDO:0021283 oboInOwl:hasExactSynonym "mediastinum malignant teratoma" @@ -151049,8 +152776,9 @@ MONDO:0004240 oboInOwl:hasExactSynonym "posterior urethral cancer" MONDO:0004240 oboInOwl:hasExactSynonym "malignant neoplasm of posterior urethra" MONDO:0004240 oboInOwl:hasExactSynonym "posterior urethra malignant neoplasm" MONDO:0004240 oboInOwl:hasExactSynonym "malignant tumor of the posterior urethra" -MONDO:0030974 oboInOwl:hasExactSynonym "mitochondrial complex 2 deficiency, nuclear type 4" MONDO:0030974 oboInOwl:hasExactSynonym "MC2DN4" +MONDO:0030974 oboInOwl:hasExactSynonym "mitochondrial complex II deficiency, nuclear type 4" +MONDO:0030974 oboInOwl:hasExactSynonym "mitochondrial complex 2 deficiency, nuclear type 4" MONDO:0011353 oboInOwl:hasExactSynonym "atrial septal defect, secundum, with various cardiac and Noncardiac defects" MONDO:0018157 oboInOwl:hasExactSynonym "COXPD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018157 oboInOwl:hasExactSynonym "combined OXPHOS deficiency" @@ -151065,17 +152793,18 @@ MONDO:0013553 oboInOwl:hasExactSynonym "ICF syndrome 2" FOODON:03411328 oboInOwl:hasExactSynonym "caprine"@en MONDO:0011617 oboInOwl:hasExactSynonym "arthropathy, erosive" MONDO:0012804 oboInOwl:hasExactSynonym "CSRP3 hypertrophic cardiomyopathy" +MONDO:0012804 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 12" MONDO:0012804 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 12" MONDO:0012804 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy 12" MONDO:0012804 oboInOwl:hasExactSynonym "CMH12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012804 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, type 12" MONDO:0012804 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy caused by mutation in CSRP3" MONDO:0012804 oboInOwl:hasExactSynonym "cardiomyopathy familial hypertrophic 12" -MONDO:0015630 oboInOwl:hasExactSynonym "von Willebrand disease, type 2M" MONDO:0100064 oboInOwl:hasExactSynonym "TH deficiency" MONDO:0100064 oboInOwl:hasExactSynonym "tyrosine 3-monooxygenase deficiency" MONDO:0100064 oboInOwl:hasExactSynonym "tyrosine hydroxylase deficiency" MONDO:0100064 oboInOwl:hasExactSynonym "tyrosine Hydroxylase deficiency" +MONDO:0015630 oboInOwl:hasExactSynonym "von Willebrand disease, type 2M" GO:0006705 oboInOwl:hasExactSynonym "mineralocorticoid synthesis" GO:0006705 oboInOwl:hasExactSynonym "mineralocorticoid formation" GO:0006705 oboInOwl:hasExactSynonym "mineralocorticoid biosynthesis" @@ -151088,10 +152817,11 @@ MONDO:0020525 oboInOwl:hasExactSynonym "transient neonatal diabetes mellitus" MONDO:0012794 oboInOwl:hasExactSynonym "alopecia-progressive neurological defect-endocrinopathy syndrome" MONDO:0012794 oboInOwl:hasExactSynonym "ANE syndrome" MONDO:0010213 oboInOwl:hasExactSynonym "XP-E" -MONDO:0010213 oboInOwl:hasExactSynonym "XPE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010213 oboInOwl:hasExactSynonym "xeroderma pigmentosum group E" +MONDO:0010213 oboInOwl:hasExactSynonym "XPE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010213 oboInOwl:hasExactSynonym "xeroderma pigmentosum, complementation group type E" MONDO:0010213 oboInOwl:hasExactSynonym "xeroderma pigmentosum group type E" +MONDO:0010213 oboInOwl:hasExactSynonym "xeroderma pigmentosum, group E, DDB-negative subtype" MONDO:0010213 oboInOwl:hasExactSynonym "XP group E" MONDO:0010213 oboInOwl:hasExactSynonym "XP5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010213 oboInOwl:hasExactSynonym "xeroderma pigmentosum V" @@ -151131,9 +152861,12 @@ MONDO:0014040 oboInOwl:hasExactSynonym "autosomal recessive osteopetrosis type 8 MONDO:0014040 oboInOwl:hasExactSynonym "autosomal recessive osteopetrosis caused by mutation in SNX10" MONDO:0014040 oboInOwl:hasExactSynonym "OPTB8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014040 oboInOwl:hasExactSynonym "osteopetrosis, autosomal recessive type 8" +MONDO:0032773 oboInOwl:hasExactSynonym "uridine-cytidineuria" NCBITaxon:39030 oboInOwl:hasExactSynonym "Eurasian field mouse" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name NCBITaxon:39030 oboInOwl:hasExactSynonym "Old World field mouse" http://purl.obolibrary.org/obo/ncbitaxon#common_name NCBITaxon:39030 oboInOwl:hasExactSynonym "striped field mouse" http://purl.obolibrary.org/obo/ncbitaxon#common_name +MONDO:0013376 oboInOwl:hasExactSynonym "microphthalmia with coloboma 6" +MONDO:0013376 oboInOwl:hasExactSynonym "microphthalmia with coloboma 6, digenic" MONDO:0013376 oboInOwl:hasExactSynonym "microphthalmia, isolated, with coloboma type 6" MONDO:0013376 oboInOwl:hasExactSynonym "microphthalmia, isolated, with coloboma 6" MONDO:0003256 oboInOwl:hasExactSynonym "granular cell tumor of neurohypophysis" @@ -151147,6 +152880,7 @@ MONDO:0010810 oboInOwl:hasExactSynonym "vitamin D 25-Hydroxylase deficiency" MONDO:0010810 oboInOwl:hasExactSynonym "vitamin D hydroxylation-deficient rickets, type 1B" MONDO:0010810 oboInOwl:hasExactSynonym "vitamin D hydroxylation-deficient rickets type 1b" MONDO:0010810 oboInOwl:hasExactSynonym "vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1" +MONDO:0010810 oboInOwl:hasExactSynonym "rickets due to defect in vitamin D 25-hydroxylation deficiency" MONDO:0010810 oboInOwl:hasExactSynonym "CYP2R1 vitamin D-dependent rickets, type 1" MONDO:0016596 oboInOwl:hasExactSynonym "Mabry syndrome" MONDO:0016596 oboInOwl:hasExactSynonym "hyperphosphatasia with mental retardation syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -151197,18 +152931,19 @@ MONDO:0003303 oboInOwl:hasExactSynonym "neurofibroma of gallbladder" MONDO:0003303 oboInOwl:hasExactSynonym "neurofibroma of the gallbladder" MONDO:0003303 oboInOwl:hasExactSynonym "neurofibroma of gall bladder" MONDO:0003303 oboInOwl:hasExactSynonym "gallbladder neurofibroma" +MONDO:0017425 oboInOwl:hasExactSynonym "preaxial polydactyly of hand" MONDO:0005230 oboInOwl:hasExactSynonym "cellulitis (disease)" MONDO:0005230 oboInOwl:hasExactSynonym "cellulitis" -MONDO:0017425 oboInOwl:hasExactSynonym "preaxial polydactyly of hand" MONDO:0018983 oboInOwl:hasExactSynonym "painful ophthalmoplegia" -MONDO:0018983 oboInOwl:hasExactSynonym "tolosa-Hunt syndrome" -MONDO:0008747 oboInOwl:hasExactSynonym "xanthous oculocutaneous albinism" -MONDO:0008747 oboInOwl:hasExactSynonym "Red oculocutaneous albinism" -MONDO:0008747 oboInOwl:hasExactSynonym "OCA3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008747 oboInOwl:hasExactSynonym "oculocutaneous albinism type 3" +MONDO:0018983 oboInOwl:hasExactSynonym "Tolosa Hunt syndrome" +MONDO:0018983 oboInOwl:hasExactSynonym "Tolosa-Hunt syndrome" +MONDO:0008747 oboInOwl:hasExactSynonym "rufous oculocutaneous albinism" MONDO:0008747 oboInOwl:hasExactSynonym "oculocutaneous albinism caused by mutation in TYRP1" +MONDO:0008747 oboInOwl:hasExactSynonym "Red oculocutaneous albinism" +MONDO:0008747 oboInOwl:hasExactSynonym "xanthous oculocutaneous albinism" MONDO:0008747 oboInOwl:hasExactSynonym "TYRP1 oculocutaneous albinism" -MONDO:0008747 oboInOwl:hasExactSynonym "rufous oculocutaneous albinism" +MONDO:0008747 oboInOwl:hasExactSynonym "oculocutaneous albinism type 3" +MONDO:0008747 oboInOwl:hasExactSynonym "OCA3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009821 oboInOwl:hasExactSynonym "lethal osteosclerotic bone dysplasia" MONDO:0009821 oboInOwl:hasExactSynonym "Raine syndrome" MONDO:0018124 oboInOwl:hasExactSynonym "TIO" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -151220,6 +152955,7 @@ MONDO:0017835 oboInOwl:hasExactSynonym "lymphoid HES" MONDO:0012607 oboInOwl:hasExactSynonym "inherited susceptibility to asthma caused by mutation in IRAK3" MONDO:0012607 oboInOwl:hasExactSynonym "IRAK3 inherited susceptibility to asthma" MONDO:0012607 oboInOwl:hasExactSynonym "asthma-related traits, susceptibility to, type 5" +MONDO:0012607 oboInOwl:hasExactSynonym "asthma susceptibility 5" MONDO:0012607 oboInOwl:hasExactSynonym "asthma-related traits, susceptibility to, 5" MONDO:0007918 oboInOwl:hasExactSynonym "chorioretinal dysplasia-microcephaly-intellectual disability syndrome" MONDO:0007918 oboInOwl:hasExactSynonym "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -151243,23 +152979,23 @@ MONDO:0016620 oboInOwl:hasExactSynonym "hypertrophic osteoarthropathy, primary, MONDO:0016620 oboInOwl:hasExactSynonym "pachydermoperiostosis syndrome" MONDO:0016620 oboInOwl:hasExactSynonym "hypertrophic osteoarthropathy, primary" MONDO:0006749 oboInOwl:hasExactSynonym "mixed epithelioid and spindle cell melanoma" -MONDO:0004335 oboInOwl:hasExactSynonym "digestive disease" +MONDO:0004335 oboInOwl:hasExactSynonym "digestive system disease or disorder" MONDO:0004335 oboInOwl:hasExactSynonym "gastrointestinal system disease" -MONDO:0004335 oboInOwl:hasExactSynonym "gastrointestinal disease" -MONDO:0004335 oboInOwl:hasExactSynonym "disease or disorder of digestive system" MONDO:0004335 oboInOwl:hasExactSynonym "gastrointestinal system disorder" -MONDO:0004335 oboInOwl:hasExactSynonym "stomach or intestinal disorder" -MONDO:0004335 oboInOwl:hasExactSynonym "disease of digestive system" -MONDO:0004335 oboInOwl:hasExactSynonym "git disease" -MONDO:0004335 oboInOwl:hasExactSynonym "gastroenterological system disease" -MONDO:0004335 oboInOwl:hasExactSynonym "disorder of digestive system" -MONDO:0004335 oboInOwl:hasExactSynonym "digestive system disease or disorder" -MONDO:0004335 oboInOwl:hasExactSynonym "gastroenterological system disorder" -MONDO:0004335 oboInOwl:hasExactSynonym "gastrointestinal disorder" MONDO:0004335 oboInOwl:hasExactSynonym "alimentary system disease" +MONDO:0004335 oboInOwl:hasExactSynonym "gastrointestinal disorder" +MONDO:0004335 oboInOwl:hasExactSynonym "digestive disease" +MONDO:0004335 oboInOwl:hasExactSynonym "digestive system disease" MONDO:0004335 oboInOwl:hasExactSynonym "digestive system disorder" +MONDO:0004335 oboInOwl:hasExactSynonym "disorder of digestive system" +MONDO:0004335 oboInOwl:hasExactSynonym "disease of digestive system" +MONDO:0004335 oboInOwl:hasExactSynonym "gastroenterological system disease" +MONDO:0004335 oboInOwl:hasExactSynonym "disease or disorder of digestive system" +MONDO:0004335 oboInOwl:hasExactSynonym "git disease" MONDO:0004335 oboInOwl:hasExactSynonym "gastroenteropathy" -MONDO:0004335 oboInOwl:hasExactSynonym "digestive system disease" +MONDO:0004335 oboInOwl:hasExactSynonym "gastrointestinal disease" +MONDO:0004335 oboInOwl:hasExactSynonym "stomach or intestinal disorder" +MONDO:0004335 oboInOwl:hasExactSynonym "gastroenterological system disorder" ECTO:9001804 oboInOwl:hasExactSynonym "exposure to protein synthesis inhibitor" HP:0100639 oboInOwl:hasExactSynonym "Erectile abnormalities" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0100639 oboInOwl:hasExactSynonym "Abnormal erection" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -151302,8 +153038,8 @@ MONDO:0004978 oboInOwl:hasExactSynonym "AS" http://purl.obolibrary.org/obo/mondo MONDO:0004978 oboInOwl:hasExactSynonym "rheumatic aortic valve stenosis" MONDO:0004978 oboInOwl:hasExactSynonym "aortic stenosis" MONDO:0003661 oboInOwl:hasExactSynonym "malignant lymphoma of breast" -MONDO:0003661 oboInOwl:hasExactSynonym "lymphoma of breast" MONDO:0003661 oboInOwl:hasExactSynonym "primary breast lymphoma" +MONDO:0003661 oboInOwl:hasExactSynonym "lymphoma of breast" MONDO:0003661 oboInOwl:hasExactSynonym "lymphoma of the breast" MONDO:0003661 oboInOwl:hasExactSynonym "breast lymphoma" MONDO:0030341 oboInOwl:hasExactSynonym "CMS7B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -151335,6 +153071,7 @@ MONDO:0030270 oboInOwl:hasExactSynonym "lymphatic malformation 9" MONDO:0030270 oboInOwl:hasExactSynonym "LMPHM9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION ENVO:01001429 oboInOwl:hasExactSynonym "land development" ENVO:01001429 oboInOwl:hasExactSynonym "land conversion" +MONDO:0033646 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 12" MONDO:0033646 oboInOwl:hasExactSynonym "MC4DN12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016236 oboInOwl:hasExactSynonym "Kaposiform hemangioendothelioma" MONDO:0014924 oboInOwl:hasExactSynonym "epilepsy, familial focal, with variable foci caused by mutation in NPRL2" @@ -151372,6 +153109,7 @@ MONDO:0007665 oboInOwl:hasExactSynonym "chronic simple glaucoma" MONDO:0014778 oboInOwl:hasExactSynonym "Lamb-Shaffer syndrome; LAMSHF" MONDO:0014778 oboInOwl:hasExactSynonym "Lamb-Shaffer syndrome" MONDO:0014778 oboInOwl:hasExactSynonym "LAMSHF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010428 oboInOwl:hasExactSynonym "chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant" MONDO:0010428 oboInOwl:hasExactSynonym "trisomy Xp11.22-p11.23" MONDO:0010428 oboInOwl:hasExactSynonym "chromosome Xp11.23-p11.22 duplication syndrome" MONDO:0010428 oboInOwl:hasExactSynonym "microduplication Xp11.22-p11.23 syndrome" @@ -151380,6 +153118,7 @@ HP:0001626 oboInOwl:hasExactSynonym "Abnormality of the cardiovascular system" h HP:0001626 oboInOwl:hasExactSynonym "Cardiovascular abnormality" http://purl.obolibrary.org/obo/hp.obo#layperson CHEBI:16705 oboInOwl:hasExactSynonym "6-Aminopenicillanic acid" CHEBI:16705 oboInOwl:hasExactSynonym "6-amino-2,2-dimethylpenam-3alpha-carboxylic acid" +MONDO:0060455 oboInOwl:hasExactSynonym "hemolytic anemia, congenital, X-linked, X-linked recessive" MONDO:0015832 oboInOwl:hasExactSynonym "complete unilateral Mullerian aplasia" MONDO:0015832 oboInOwl:hasExactSynonym "complete unilateral Müllerian aplasia" MONDO:0015832 oboInOwl:hasExactSynonym "unicornuate uterus without rudimentary horn" @@ -151388,6 +153127,7 @@ MONDO:0015832 oboInOwl:hasExactSynonym "complete unilateral aplasia of the Müll MONDO:0008819 oboInOwl:hasExactSynonym "arteriosclerosis, severe juvenile" MONDO:0002526 oboInOwl:hasExactSynonym "unilateral segmental cavernous hemangioma of the skin" MONDO:0002526 oboInOwl:hasExactSynonym "unilateral segmental cavernous hemangioma" +MONDO:0026768 oboInOwl:hasExactSynonym "Warfarin sensitivity" MONDO:0025514 oboInOwl:hasExactSynonym "livedoid vasculopathy" MONDO:0025514 oboInOwl:hasExactSynonym "livedoid vasculitis" MONDO:0004453 oboInOwl:hasExactSynonym "testicular yolk sac tumor, myxomatous pattern" @@ -151535,6 +153275,7 @@ MONDO:0012941 oboInOwl:hasExactSynonym "inflammatory bowel disease type 25" MONDO:0012941 oboInOwl:hasExactSynonym "inflammatory bowel disease caused by mutation in IL10RB" MONDO:0012941 oboInOwl:hasExactSynonym "early onset autosomal recessive inflammatory bowel disease 25" MONDO:0012941 oboInOwl:hasExactSynonym "IBD25" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012941 oboInOwl:hasExactSynonym "inflammatory bowel disease 25, early onset, autosomal recessive" MONDO:0002936 oboInOwl:hasExactSynonym "scrotum skin basal cell carcinoma" MONDO:0002936 oboInOwl:hasExactSynonym "skin basal cell carcinoma of scrotum" MONDO:0002936 oboInOwl:hasExactSynonym "basal cell scrotal carcinoma" @@ -151555,6 +153296,7 @@ MONDO:0013320 oboInOwl:hasExactSynonym "Del(16)(p11.2p12.2)" MONDO:0013320 oboInOwl:hasExactSynonym "monosomy 16p11.2p12.2" MONDO:0013320 oboInOwl:hasExactSynonym "16p11.2p12.2 microdeletion syndrome" MONDO:0013320 oboInOwl:hasExactSynonym "16p11.2-p12.2 microdeletion syndrome" +MONDO:0013320 oboInOwl:hasExactSynonym "chromosome 16p12.2-p11.2 deletion syndrome, isolated cases" MONDO:0014926 oboInOwl:hasExactSynonym "IFT74 Bardet-Biedl syndrome" MONDO:0014926 oboInOwl:hasExactSynonym "Bardet-Biedl syndrome caused by mutation in IFT74" MONDO:0021292 oboInOwl:hasExactSynonym "stage 0 body of stomach carcinoma" @@ -151590,6 +153332,7 @@ HP:0003510 oboInOwl:hasExactSynonym "Dwarfism" http://purl.obolibrary.org/obo/hp HP:0003510 oboInOwl:hasExactSynonym "Short stature, extreme" HP:0003510 oboInOwl:hasExactSynonym "Short stature, severe" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0003510 oboInOwl:hasExactSynonym "Proportionate dwarfism" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0044249 oboInOwl:hasExactSynonym "alkaline phosphatase, plasma level of, QTL1" MONDO:0005896 oboInOwl:hasExactSynonym "Paramyxoviridae disease or disorder" MONDO:0005896 oboInOwl:hasExactSynonym "Paramyxoviridae caused disease or disorder" GO:1903353 oboInOwl:hasExactSynonym "regulation of nuclear organisation" @@ -151702,12 +153445,12 @@ MONDO:0005035 oboInOwl:hasExactSynonym "ganglioneuroblastoma (morphologic abnorm MONDO:0005035 oboInOwl:hasExactSynonym "ganglioneuroblastoma" MONDO:0005035 oboInOwl:hasExactSynonym "ganglioneuroblastoma, malignant" MONDO:0005035 oboInOwl:hasExactSynonym "ganglioneuroblastoma (disease)" -MONDO:0006118 oboInOwl:hasExactSynonym "fibrosclerosis of the breast" MONDO:0006118 oboInOwl:hasExactSynonym "fibrosis of breast" MONDO:0006118 oboInOwl:hasExactSynonym "fibrosclerosis of breast" MONDO:0006118 oboInOwl:hasExactSynonym "breast fibrosis" MONDO:0006118 oboInOwl:hasExactSynonym "breast fibrosclerosis" MONDO:0006118 oboInOwl:hasExactSynonym "fibrosis of the breast" +MONDO:0006118 oboInOwl:hasExactSynonym "fibrosclerosis of the breast" MONDO:0100377 oboInOwl:hasExactSynonym "AML, t(10;11)(p12;q23)" GO:0016881 oboInOwl:hasExactSynonym "peptide synthase activity" MONDO:0004297 oboInOwl:hasExactSynonym "lymphoepithelial Thymus cancer" @@ -151754,6 +153497,7 @@ MONDO:0001975 oboInOwl:hasExactSynonym "cavernous angioma of the orbit" MONDO:0001975 oboInOwl:hasExactSynonym "cavernous angioma of orbit" MONDO:0007080 oboInOwl:hasExactSynonym "FH-I" MONDO:0007080 oboInOwl:hasExactSynonym "glucocorticoid-remediable aldosteronism" +MONDO:0007080 oboInOwl:hasExactSynonym "aldosteronism, glucocorticoid-remediable" MONDO:0007080 oboInOwl:hasExactSynonym "GRA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007080 oboInOwl:hasExactSynonym "glucocorticoid-sensitive hypertension" MONDO:0007080 oboInOwl:hasExactSynonym "familial hyperaldosteronism type 1" @@ -151791,6 +153535,7 @@ MONDO:0011141 oboInOwl:hasExactSynonym "MEGAF" http://purl.obolibrary.org/obo/mo MONDO:0011141 oboInOwl:hasExactSynonym "folate level in erythrocytes" MONDO:0010585 oboInOwl:hasExactSynonym "X-linked anhidrotic ectodermal dysplasia" MONDO:0010585 oboInOwl:hasExactSynonym "hypohidrotic ectodermal dysplasia, X-linked" +MONDO:0010585 oboInOwl:hasExactSynonym "ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive" MONDO:0010585 oboInOwl:hasExactSynonym "X-linked hypohidrotic ectodermal dysplasia" MONDO:0010585 oboInOwl:hasExactSynonym "Christ-Siemens-Touraine syndrome" MONDO:0010585 oboInOwl:hasExactSynonym "XHED" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -151803,9 +153548,11 @@ MONDO:0011531 oboInOwl:hasExactSynonym "Noonan syndrome 2" MONDO:0011531 oboInOwl:hasExactSynonym "Noonan syndrome type 2" MONDO:0012614 oboInOwl:hasExactSynonym "autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2" MONDO:0012614 oboInOwl:hasExactSynonym "GRIK2 autosomal recessive non-syndromic intellectual disability" +MONDO:0012614 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 6" MONDO:0012614 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 6" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0012614 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 6" MONDO:0012614 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 6" +MONDO:0054582 oboInOwl:hasExactSynonym "Townes-Brocks syndrome 2" MONDO:0007925 oboInOwl:hasExactSynonym "5q- syndrome, refractory macrocytic anemia due to 5q deletion" MONDO:0007925 oboInOwl:hasExactSynonym "myelodysplastic syndrome with 5q deletion" MONDO:0007925 oboInOwl:hasExactSynonym "chromosome 5q deletion syndrome" @@ -151813,9 +153560,9 @@ MONDO:0007925 oboInOwl:hasExactSynonym "myelodysplastic syndrome associated with MONDO:0007925 oboInOwl:hasExactSynonym "5Q- syndrome" MONDO:0007925 oboInOwl:hasExactSynonym "5Q minus syndrome" MONDO:0007925 oboInOwl:hasExactSynonym "myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality" +MONDO:0007925 oboInOwl:hasExactSynonym "macrocytic anemia, refractory, due to 5q deletion, somatic" MONDO:0007925 oboInOwl:hasExactSynonym "5q- syndrome" MONDO:0007925 oboInOwl:hasExactSynonym "myelodysplastic syndrome with isolated del(5q)" -MONDO:0054582 oboInOwl:hasExactSynonym "Townes-Brocks syndrome 2" GO:1905208 oboInOwl:hasExactSynonym "down-regulation of cardiac cell differentiation" GO:1905208 oboInOwl:hasExactSynonym "down-regulation of cardiocyte differentiation" GO:1905208 oboInOwl:hasExactSynonym "down-regulation of heart cell differentiation" @@ -151865,6 +153612,7 @@ MONDO:0043320 oboInOwl:hasExactSynonym "piriformis muscle syndrome" MONDO:0043320 oboInOwl:hasExactSynonym "piriformis syndrome" MONDO:0012801 oboInOwl:hasExactSynonym "autism, susceptibility to, 15" MONDO:0012801 oboInOwl:hasExactSynonym "autism, susceptibility to, type 15" +MONDO:0012801 oboInOwl:hasExactSynonym "autism susceptibility 15" HP:0007663 oboInOwl:hasExactSynonym "Poor visual acuity" HP:0007663 oboInOwl:hasExactSynonym "Decreased clarity of vision" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0007663 oboInOwl:hasExactSynonym "Decreased central vision" @@ -151878,6 +153626,7 @@ MONDO:0018470 oboInOwl:hasExactSynonym "absent/underdeveloped kidney" MONDO:0018470 oboInOwl:hasExactSynonym "hereditary urogenital adysplasia" MONDO:0018470 oboInOwl:hasExactSynonym "renal agenesis" MONDO:0018470 oboInOwl:hasExactSynonym "absent/small kidney" +MONDO:0007791 oboInOwl:hasExactSynonym "hpocalciuric hypercalcemia, type I" MONDO:0007791 oboInOwl:hasExactSynonym "familial hypocalciuric hypercalcemia type I" MONDO:0007791 oboInOwl:hasExactSynonym "FHH type 1" MONDO:0007791 oboInOwl:hasExactSynonym "familial benign hypercalcemia 1" @@ -151975,6 +153724,7 @@ MONDO:0019587 oboInOwl:hasExactSynonym "autosomal dominant nonsyndromic hearing MONDO:0019587 oboInOwl:hasExactSynonym "autosomal dominant non-syndromic neurosensory hearing loss type DFNA" MONDO:0019587 oboInOwl:hasExactSynonym "autosomal dominant isolated neurosensory hearing loss type DFNA" MONDO:0010435 oboInOwl:hasExactSynonym "nystagmus 6, congenital, X-linked" +MONDO:0010435 oboInOwl:hasExactSynonym "nystagmus 6, congenital, X-linked, X-linked recessive" MONDO:0000378 oboInOwl:hasExactSynonym "malignant Androblastoma" MONDO:0000378 oboInOwl:hasExactSynonym "Sertoli cell tumor, malignant" GO:0062013 oboInOwl:hasExactSynonym "positive regulation of small molecule metabolism" @@ -151992,20 +153742,22 @@ MONDO:0009267 oboInOwl:hasExactSynonym "Gaucher disease, juvenile and adult, cer CL:0000242 oboInOwl:hasExactSynonym "Merkel's cell" MONDO:0018776 oboInOwl:hasExactSynonym "demyelinating HMSN" MONDO:0018776 oboInOwl:hasExactSynonym "demyelinating hereditary motor and sensory neuropathy" -MONDO:0009657 oboInOwl:hasExactSynonym "Sanfilippo syndrome type C" MONDO:0009657 oboInOwl:hasExactSynonym "MPSIIIC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009657 oboInOwl:hasExactSynonym "heparan-alpha-glucosaminide N-acetyltransferase deficiency" -MONDO:0009657 oboInOwl:hasExactSynonym "mucopolysaccharidosis type IIIC" MONDO:0009657 oboInOwl:hasExactSynonym "mucopolysaccharidosis type 3C" -MONDO:0009657 oboInOwl:hasExactSynonym "MPS3C" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009657 oboInOwl:hasExactSynonym "heparan-alpha-glucosaminide N-acetyltransferase deficiency" MONDO:0009657 oboInOwl:hasExactSynonym "HGSNAT deficiency" MONDO:0009657 oboInOwl:hasExactSynonym "Sanfilippo C" +MONDO:0009657 oboInOwl:hasExactSynonym "mucopolysaccharidosis type IIIC (Sanfilippo C)" MONDO:0009657 oboInOwl:hasExactSynonym "MPS III C" +MONDO:0009657 oboInOwl:hasExactSynonym "MPS3C" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009657 oboInOwl:hasExactSynonym "mucopolysaccharidosis type IIIC" +MONDO:0009657 oboInOwl:hasExactSynonym "Sanfilippo syndrome type C" MONDO:0007223 oboInOwl:hasExactSynonym "HOXD13 brachydactyly type E" MONDO:0007223 oboInOwl:hasExactSynonym "brachydactyly type E caused by mutation in HOXD13" MONDO:0007223 oboInOwl:hasExactSynonym "BDE1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010364 oboInOwl:hasExactSynonym "Aldred syndrome" MONDO:0010364 oboInOwl:hasExactSynonym "retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion" +MONDO:0010364 oboInOwl:hasExactSynonym "chromosome xp11.3 deletion syndrome, X-linked recessive" MONDO:0010364 oboInOwl:hasExactSynonym "retinitis pigmentosa and intellectual disability due to del(X)(p11.3)" MONDO:0010364 oboInOwl:hasExactSynonym "retinitis pigmentosa and intellectual disability due to monosomy Xp11.3" MONDO:0020977 oboInOwl:hasExactSynonym "granulomatous prostatitis" @@ -152030,6 +153782,7 @@ MONDO:0010622 oboInOwl:hasExactSynonym "ichthyosis (disease), X-linked" MONDO:0010622 oboInOwl:hasExactSynonym "RXLI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010622 oboInOwl:hasExactSynonym "steroid sulfatase deficiency" MONDO:0010622 oboInOwl:hasExactSynonym "X-linked recessive ichthyosis" +MONDO:0010622 oboInOwl:hasExactSynonym "ichthyosis , X-linked, X-linked recessive" MONDO:0010622 oboInOwl:hasExactSynonym "X-linked ichthyosis with steryl-sulphatase deficiency" MONDO:0010622 oboInOwl:hasExactSynonym "X-linked ichthyosis" MONDO:0010622 oboInOwl:hasExactSynonym "recessive X-linked ichthyosis" @@ -152048,8 +153801,6 @@ MONDO:0014918 oboInOwl:hasExactSynonym "Thauvin-robinet-Faivre syndrome" CL:0000788 oboInOwl:hasExactSynonym "naive B-lymphocyte" CL:0000788 oboInOwl:hasExactSynonym "naive B lymphocyte" CL:0000788 oboInOwl:hasExactSynonym "naive B-cell" -NCBITaxon:121226 oboInOwl:hasExactSynonym "human head lice" http://purl.obolibrary.org/obo/ncbitaxon#common_name -NCBITaxon:121226 oboInOwl:hasExactSynonym "human head louse" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name MONDO:0005569 oboInOwl:hasExactSynonym "cartilage tissue disease" MONDO:0005569 oboInOwl:hasExactSynonym "cartilage tissue disease or disorder" MONDO:0005569 oboInOwl:hasExactSynonym "chondropathy" @@ -152057,10 +153808,15 @@ MONDO:0005569 oboInOwl:hasExactSynonym "disease or disorder of cartilage tissue" MONDO:0005569 oboInOwl:hasExactSynonym "disease of cartilage tissue" MONDO:0005569 oboInOwl:hasExactSynonym "disorder of cartilage tissue" MONDO:0005569 oboInOwl:hasExactSynonym "cartilage disorder" +NCBITaxon:121226 oboInOwl:hasExactSynonym "human head lice" http://purl.obolibrary.org/obo/ncbitaxon#common_name +NCBITaxon:121226 oboInOwl:hasExactSynonym "human head louse" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name +MONDO:0011908 oboInOwl:hasExactSynonym "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation" MONDO:0011908 oboInOwl:hasExactSynonym "JMML" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011908 oboInOwl:hasExactSynonym "juvenile myelomonocytic leukemia" +MONDO:0011908 oboInOwl:hasExactSynonym "leukemia, juvenile myelomonocytic, somatic" MONDO:0011908 oboInOwl:hasExactSynonym "JCML" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011908 oboInOwl:hasExactSynonym "juvenile chronic myelomonocytic leukemia" +MONDO:0011908 oboInOwl:hasExactSynonym "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation" MONDO:0011908 oboInOwl:hasExactSynonym "juvenile chronic myelogenous leukemia" MONDO:0011908 oboInOwl:hasExactSynonym "juvenile chronic myeloid leukemia" MONDO:0011908 oboInOwl:hasExactSynonym "chronic myelomonocytic leukemia" @@ -152082,6 +153838,7 @@ MONDO:0004241 oboInOwl:hasExactSynonym "Osteochondrosis of proximal tibia" MONDO:0004241 oboInOwl:hasExactSynonym "osteochondritis of tibial tubercle" MONDO:0004241 oboInOwl:hasExactSynonym "aseptic necrosis of the tibial tubercle" MONDO:0004241 oboInOwl:hasExactSynonym "juvenile osteochondrosis of tibial tubercle" +MONDO:0013125 oboInOwl:hasExactSynonym "CLAPO syndrome, somatic" MONDO:0005452 oboInOwl:hasExactSynonym "bulimia" MONDO:0005452 oboInOwl:hasExactSynonym "hyperorexia nervosa" MONDO:0003454 oboInOwl:hasExactSynonym "malignant neoplasm of conjunctiva (primary)" @@ -152110,6 +153867,7 @@ MONDO:0006830 oboInOwl:hasExactSynonym "kraurosis of penis" MONDO:0012113 oboInOwl:hasExactSynonym "EIG3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012113 oboInOwl:hasExactSynonym "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9" MONDO:0012113 oboInOwl:hasExactSynonym "epilepsy, idiopathic generalized, susceptibility to, 3" +MONDO:0020526 oboInOwl:hasExactSynonym "DS-AMKL" MONDO:0014566 oboInOwl:hasExactSynonym "autosomal dominant Charcot-Marie-Tooth disease type 2U" MONDO:0014566 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2 caused by mutation in MARS" MONDO:0014566 oboInOwl:hasExactSynonym "autosomal dominant axonal Charcot-Marie-Tooth disease type 2U" @@ -152117,7 +153875,6 @@ MONDO:0014566 oboInOwl:hasExactSynonym "autosomal dominant Charcot-Marie-Tooth d MONDO:0014566 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2U" MONDO:0014566 oboInOwl:hasExactSynonym "CMT2U" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014566 oboInOwl:hasExactSynonym "MARS Charcot-Marie-Tooth disease type 2" -MONDO:0020526 oboInOwl:hasExactSynonym "DS-AMKL" GO:0090305 oboInOwl:hasExactSynonym "nucleic acid cleavage" MONDO:0035112 oboInOwl:hasExactSynonym "acute myeloid leukemia with t(9;22)(q34.1;q11.2)" MONDO:0035112 oboInOwl:hasExactSynonym "AML with t(9;22)(q34.1;q11.2)" @@ -152153,8 +153910,10 @@ MONDO:0007002 oboInOwl:hasExactSynonym "superior oblique muscle innervation diso MONDO:0011354 oboInOwl:hasExactSynonym "situs inversus totalis with cystic dysplasia of kidneys and pancreas" MONDO:0013554 oboInOwl:hasExactSynonym "psoriasis 13, susceptibility to" MONDO:0013554 oboInOwl:hasExactSynonym "TRAF3IP2 psoriasis" +MONDO:0013554 oboInOwl:hasExactSynonym "psoriasis susceptibility 13" MONDO:0013554 oboInOwl:hasExactSynonym "psoriasis caused by mutation in TRAF3IP2" MONDO:0001273 oboInOwl:hasExactSynonym "dilatation of colon" +MONDO:0012805 oboInOwl:hasExactSynonym "GLUT1 deficiency syndrome 2, childhood onset" MONDO:0012805 oboInOwl:hasExactSynonym "paroxysmal exercise-induced dystonia" MONDO:0012805 oboInOwl:hasExactSynonym "ped" MONDO:0012805 oboInOwl:hasExactSynonym "dystonia 18" @@ -152171,6 +153930,7 @@ GO:0006706 oboInOwl:hasExactSynonym "steroid catabolism" GO:0006706 oboInOwl:hasExactSynonym "steroid breakdown" HP:0004326 oboInOwl:hasExactSynonym "Wasting syndrome" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0010437 oboInOwl:hasExactSynonym "mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6" +MONDO:0010437 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency 6, X-linked recessive" MONDO:0010437 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency type 6" MONDO:0010437 oboInOwl:hasExactSynonym "mitochondrial encephalomyopathy due to COXPD6" MONDO:0017153 oboInOwl:hasExactSynonym "PAH associated with HIV infaction" @@ -152307,6 +154067,8 @@ GO:1903770 oboInOwl:hasExactSynonym "down-regulation of exo-(1->4)-beta-D-galact GO:1903770 oboInOwl:hasExactSynonym "down regulation of beta-D-lactosidase activity" GO:1903770 oboInOwl:hasExactSynonym "down-regulation of trilactase activity" GO:1903770 oboInOwl:hasExactSynonym "negative regulation of beta-D-galactoside galactohydrolase activity" +MONDO:0054749 oboInOwl:hasExactSynonym "obesity, susceptibility to, BMIQ19" +MONDO:0008420 oboInOwl:hasExactSynonym "keratosis, seborrheic, somatic" MONDO:0008420 oboInOwl:hasExactSynonym "keratosis Seborrheica" MONDO:0008420 oboInOwl:hasExactSynonym "basal cell papilloma" MONDO:0044811 oboInOwl:hasExactSynonym "idiopathic torsion dystonia" @@ -152421,6 +154183,7 @@ MONDO:0011204 oboInOwl:hasExactSynonym "cerebellar Degeneration-related autoanti MONDO:0010626 oboInOwl:hasExactSynonym "hyper-IgM syndrome due to CD40L deficiency" MONDO:0010626 oboInOwl:hasExactSynonym "HIGMX-1" MONDO:0010626 oboInOwl:hasExactSynonym "hyperimmunoglobulin M syndrome" +MONDO:0010626 oboInOwl:hasExactSynonym "immunodeficiency, X-linked, with hyper-IgM, X-linked recessive" MONDO:0010626 oboInOwl:hasExactSynonym "X-linked hyper-IgM syndrome" MONDO:0010626 oboInOwl:hasExactSynonym "hyper-IgM syndrome due to CD40 ligand deficiency" MONDO:0010626 oboInOwl:hasExactSynonym "hyper-IgM syndrome type 1" @@ -152445,12 +154208,14 @@ MONDO:0006225 oboInOwl:hasExactSynonym "stomach mantle cell lymphoma" MONDO:0006225 oboInOwl:hasExactSynonym "mantle cell lymphoma of the stomach" MONDO:0006225 oboInOwl:hasExactSynonym "gastric mantle cell lymphoma" MONDO:0001880 oboInOwl:hasExactSynonym "persistent tuberculum impar" +MONDO:0007783 oboInOwl:hasExactSynonym "malignant hyperthermia susceptibility 1" MONDO:0007783 oboInOwl:hasExactSynonym "RYR1 malignant hyperthermia of anesthesia" MONDO:0007783 oboInOwl:hasExactSynonym "malignant hyperthermia, susceptibility to, type 1" MONDO:0007783 oboInOwl:hasExactSynonym "malignant hyperthermia of anesthesia caused by mutation in RYR1" MONDO:0007783 oboInOwl:hasExactSynonym "malignant hyperthermia, susceptibility to, 1" MONDO:0007436 oboInOwl:hasExactSynonym "dentin dysplasia type I" MONDO:0007436 oboInOwl:hasExactSynonym "radicular dentin dysplasia" +MONDO:0007436 oboInOwl:hasExactSynonym "dentin dysplasia, type i, with microdontia and misshapen teeth" MONDO:0007436 oboInOwl:hasExactSynonym "DTDP1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007436 oboInOwl:hasExactSynonym "DD-I" GO:0002702 oboInOwl:hasExactSynonym "up regulation of production of molecular mediator of immune response" @@ -152458,12 +154223,12 @@ GO:0002702 oboInOwl:hasExactSynonym "upregulation of production of molecular med GO:0002702 oboInOwl:hasExactSynonym "up-regulation of production of molecular mediator of immune response" MONDO:0021723 oboInOwl:hasExactSynonym "vaginismus" MONDO:0021723 oboInOwl:hasExactSynonym "myalgia of pelvic floor" +MONDO:0010813 oboInOwl:hasExactSynonym "diabetes mellitus, insulin-dependent, neonatal" MONDO:0010813 oboInOwl:hasExactSynonym "pancreatic beta cell agenesis with neonatal diabetes mellitus" MONDO:0001947 oboInOwl:hasExactSynonym "suppurative thyroiditis" MONDO:0001947 oboInOwl:hasExactSynonym "infectious thyroiditis" MONDO:0001947 oboInOwl:hasExactSynonym "acute suppurative thyroiditis" MONDO:0004267 oboInOwl:hasExactSynonym "squamous papillomatosis" -MONDO:0018229 oboInOwl:hasExactSynonym "erythema multiforme Major" MONDO:0018229 oboInOwl:hasExactSynonym "Dermatostomatitis, Stevens Johnson type" MONDO:0018229 oboInOwl:hasExactSynonym "Stevens Johnson syndrome" CL:0002538 oboInOwl:hasExactSynonym "small bile duct cholangiocyte" @@ -152560,6 +154325,7 @@ MONDO:0021123 oboInOwl:hasExactSynonym "Ewing's sarcoma/peripheral primitive neu MONDO:0021123 oboInOwl:hasExactSynonym "bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor" HsapDv:0000000 oboInOwl:hasExactSynonym "developmental stage" MONDO:0027026 oboInOwl:hasExactSynonym "Buschke Lowenstein tumor" +MONDO:0029140 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 95" MONDO:0029140 oboInOwl:hasExactSynonym "glycosylphosphatidylinositol biosynthesis defect 18" MONDO:0005895 oboInOwl:hasExactSynonym "lung fluke infection" MONDO:0005895 oboInOwl:hasExactSynonym "Paragonimus westermani caused disease or disorder" @@ -152571,12 +154337,14 @@ MONDO:0005895 oboInOwl:hasExactSynonym "Paragonimus westermani disease or disord MONDO:0014779 oboInOwl:hasExactSynonym "WT6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014779 oboInOwl:hasExactSynonym "Wilms tumor 6" MONDO:0014779 oboInOwl:hasExactSynonym "Wilms tumor type 6" +MONDO:0014779 oboInOwl:hasExactSynonym "Wilms tumor 6, susceptibility to" MONDO:0014779 oboInOwl:hasExactSynonym "Wilms tumor 6; WT6" MONDO:0010037 oboInOwl:hasExactSynonym "sodium-potassium-ATPase activity of red cell" MONDO:0010429 oboInOwl:hasExactSynonym "SYP non-syndromic X-linked intellectual disability" MONDO:0010429 oboInOwl:hasExactSynonym "mental retardation, X-linked type 96" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010429 oboInOwl:hasExactSynonym "non-syndromic X-linked intellectual disability caused by mutation in SYP" MONDO:0010429 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 96" +MONDO:0010429 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 96, X-linked recessive" MONDO:0010429 oboInOwl:hasExactSynonym "intellectual disability, X-linked 96" MONDO:0015833 oboInOwl:hasExactSynonym "incomplete unilateral Müllerian aplasia" MONDO:0015833 oboInOwl:hasExactSynonym "incomplete unilateral aplasia of the Müllerian ducts" @@ -152657,6 +154425,7 @@ MONDO:0004501 oboInOwl:hasExactSynonym "fallopian tube serous cystadenofibroma" MONDO:0004501 oboInOwl:hasExactSynonym "fallopian tube cystadenofibroma" MONDO:0004501 oboInOwl:hasExactSynonym "cystadenofibroma of fallopian tube" MONDO:0024912 oboInOwl:hasExactSynonym "cat disease" +MONDO:0033649 oboInOwl:hasExactSynonym "mitochondrial complex IV deficiency, nuclear type 14" MONDO:0033649 oboInOwl:hasExactSynonym "MC4DN14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014927 oboInOwl:hasExactSynonym "JBTS27" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014927 oboInOwl:hasExactSynonym "Joubert syndrome type 27" @@ -152671,8 +154440,8 @@ MONDO:0011540 oboInOwl:hasExactSynonym "SCA14" http://purl.obolibrary.org/obo/mo MONDO:0011540 oboInOwl:hasExactSynonym "spinocerebellar ataxia type 14" MONDO:0041751 oboInOwl:hasExactSynonym "multibacillary leprosy" MONDO:0041751 oboInOwl:hasExactSynonym "lepromatous leprosy" -ECTO:0000135 oboInOwl:hasExactSynonym "exposure to organic molecular entity" MONDO:0009992 oboInOwl:hasExactSynonym "myoglobinuria, acute recurrent, autosomal recessive" +ECTO:0000135 oboInOwl:hasExactSynonym "exposure to organic molecular entity" MONDO:0014254 oboInOwl:hasExactSynonym "PAX1 otofaciocervical syndrome" MONDO:0014254 oboInOwl:hasExactSynonym "otofaciocervical syndrome type 2" MONDO:0014254 oboInOwl:hasExactSynonym "otofaciocervical syndrome 2" @@ -152697,13 +154466,14 @@ MONDO:0016994 oboInOwl:hasExactSynonym "microcephalic osteodysplastic primordial MONDO:0016994 oboInOwl:hasExactSynonym "primordial microcephalic dwarfism, Crachami type" MONDO:0016994 oboInOwl:hasExactSynonym "MOPD types I and III" MONDO:0016823 oboInOwl:hasExactSynonym "Madura foot" -MONDO:0060621 oboInOwl:hasExactSynonym "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" MONDO:0003864 oboInOwl:hasExactSynonym "chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)" MONDO:0003864 oboInOwl:hasExactSynonym "CLL/SLL" MONDO:0003864 oboInOwl:hasExactSynonym "chronic lymphocytic leukemia/small lymphocytic lymphoma" MONDO:0003517 oboInOwl:hasExactSynonym "mature teratoma" +MONDO:0060621 oboInOwl:hasExactSynonym "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" MONDO:0011363 oboInOwl:hasExactSynonym "diabetes mellitus, noninsulin-dependent, type 3" MONDO:0011363 oboInOwl:hasExactSynonym "diabetes mellitus, noninsulin-dependent, 3" +MONDO:0011363 oboInOwl:hasExactSynonym "type 2 diabetes mellitus 3" MONDO:0025485 oboInOwl:hasExactSynonym "Feline immunodeficiency virus cat disease" MONDO:0025485 oboInOwl:hasExactSynonym "Feline immunodeficiency virus caused cat disease" MONDO:0008937 oboInOwl:hasExactSynonym "cerebellar ataxia, benign, with thermoanalgesia" @@ -152937,8 +154707,8 @@ MONDO:0004190 oboInOwl:hasExactSynonym "urinary bladder nephrogenic adenoma" MONDO:0004190 oboInOwl:hasExactSynonym "nephrogenic adenoma of the urinary bladder" MONDO:0033311 oboInOwl:hasExactSynonym "Joubert syndrome 33" MONDO:0015131 oboInOwl:hasExactSynonym "CID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0015131 oboInOwl:hasExactSynonym "congenital combined immunodeficiency" MONDO:0015131 oboInOwl:hasExactSynonym "combined immunodeficiency" +MONDO:0015131 oboInOwl:hasExactSynonym "congenital combined immunodeficiency" MONDO:0030334 oboInOwl:hasExactSynonym "encephalitis, acute, infection (viral)-induced, susceptibility to, 11" MONDO:0030334 oboInOwl:hasExactSynonym "IIAE11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:16393 oboInOwl:hasExactSynonym "Sphingosine" @@ -152970,6 +154740,7 @@ MONDO:0003266 oboInOwl:hasExactSynonym "ependymal tumor" MONDO:0003266 oboInOwl:hasExactSynonym "ependymal neoplasm" GO:0004509 oboInOwl:hasExactSynonym "steroid 21-hydroxylase activity" MONDO:0010820 oboInOwl:hasExactSynonym "autosomal recessive juvenile Parkinson disease 2" +MONDO:0010820 oboInOwl:hasExactSynonym "Parkinson disease, juvenile, type 2" MONDO:0010820 oboInOwl:hasExactSynonym "autosomal recessive juvenile Parkinson disease type 2" MONDO:0010820 oboInOwl:hasExactSynonym "young-onset Parkinson disease caused by mutation in PRKN" MONDO:0010820 oboInOwl:hasExactSynonym "PRKN young-onset Parkinson disease" @@ -152982,6 +154753,7 @@ GO:0051350 oboInOwl:hasExactSynonym "down regulation of lyase activity" GO:0051350 oboInOwl:hasExactSynonym "lyase inhibitor" GO:0051350 oboInOwl:hasExactSynonym "down-regulation of lyase activity" MONDO:0014788 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, type 2W" +MONDO:0014788 oboInOwl:hasExactSynonym "muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue" MONDO:0014788 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2" MONDO:0014788 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, type 2w" MONDO:0014788 oboInOwl:hasExactSynonym "LGMD2W" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -153010,9 +154782,11 @@ MONDO:0009268 oboInOwl:hasExactSynonym "cardiovascular Gaucher disease" MONDO:0009268 oboInOwl:hasExactSynonym "Gaucher-like disease" MONDO:0009268 oboInOwl:hasExactSynonym "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" MONDO:0009268 oboInOwl:hasExactSynonym "Gaucher disease type 3C" +MONDO:0012617 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive, 9/26" MONDO:0012617 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 9" MONDO:0012617 oboInOwl:hasExactSynonym "MRT9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION SO:0000986 oboInOwl:hasExactSynonym "topology attribute" +MONDO:0010365 oboInOwl:hasExactSynonym "myopathy, congenital, with fiber-type disproportion, X-linked, X-linked dominant" MONDO:0010365 oboInOwl:hasExactSynonym "myopathy, congenital, with fiber-type disproportion, X-linked" MONDO:0010365 oboInOwl:hasExactSynonym "CFTDX" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024327 oboInOwl:hasExactSynonym "chronic renal failure" @@ -153029,6 +154803,7 @@ MONDO:0009151 oboInOwl:hasExactSynonym "margarita type of ectodermal dysplasia" MONDO:0009151 oboInOwl:hasExactSynonym "cleft lip/palate-syndactyly-pili torti syndrome" NCBITaxon:10374 oboInOwl:hasExactSynonym "lymphoproliferative virus group" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name NCBITaxon:10374 oboInOwl:hasExactSynonym "Gammaherpesviruses" http://purl.obolibrary.org/obo/ncbitaxon#common_name +MONDO:0007705 oboInOwl:hasExactSynonym "Heinz body anemias, alpha-" MONDO:0018063 oboInOwl:hasExactSynonym "Weber - Christian disease" MONDO:0018063 oboInOwl:hasExactSynonym "Relapsing febrile nodular nonsuppurative panniculitis" MONDO:0018063 oboInOwl:hasExactSynonym "nodular nonsuppurative panniculitis" @@ -153076,15 +154851,15 @@ MONDO:0015688 oboInOwl:hasExactSynonym "myeloid/lymphoid neoplasms with eosinoph MONDO:0015688 oboInOwl:hasExactSynonym "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1" MONDO:0015688 oboInOwl:hasExactSynonym "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2" MONDO:0015688 oboInOwl:hasExactSynonym "myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement" -MONDO:0009658 oboInOwl:hasExactSynonym "MPSIIID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009658 oboInOwl:hasExactSynonym "Sanfilippo syndrome type D" -MONDO:0009658 oboInOwl:hasExactSynonym "MPS3D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009658 oboInOwl:hasExactSynonym "Sanfilippo D" +MONDO:0009658 oboInOwl:hasExactSynonym "GNS deficiency" MONDO:0009658 oboInOwl:hasExactSynonym "mucopolysaccharidosis type 3D" +MONDO:0009658 oboInOwl:hasExactSynonym "MPS3D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009658 oboInOwl:hasExactSynonym "mucopolysaccharidosis type IIID" -MONDO:0009658 oboInOwl:hasExactSynonym "GNS deficiency" -MONDO:0009658 oboInOwl:hasExactSynonym "MPS III D" +MONDO:0009658 oboInOwl:hasExactSynonym "Sanfilippo syndrome type D" +MONDO:0009658 oboInOwl:hasExactSynonym "MPSIIID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009658 oboInOwl:hasExactSynonym "glucosamine N-acetyl-6-sulfatase deficiency" +MONDO:0009658 oboInOwl:hasExactSynonym "MPS III D" MONDO:0008571 oboInOwl:hasExactSynonym "Blount disease, infantile" MONDO:0019310 oboInOwl:hasExactSynonym "dystrophic epidermolysis bullosa inversa" MONDO:0019310 oboInOwl:hasExactSynonym "RDEB-I" @@ -153104,6 +154879,7 @@ MONDO:0014684 oboInOwl:hasExactSynonym "TRMT5 combined oxidative phosphorylation MONDO:0014263 oboInOwl:hasExactSynonym "Verheij syndrome" MONDO:0007374 oboInOwl:hasExactSynonym "Schnyder corneal dystrophy" MONDO:0007374 oboInOwl:hasExactSynonym "crystalline stromal dystrophy" +MONDO:0007374 oboInOwl:hasExactSynonym "corneal dystrophy, Schnyder type" MONDO:0007374 oboInOwl:hasExactSynonym "Schnyder crystalline dystrophy sine crystals" MONDO:0007374 oboInOwl:hasExactSynonym "corneal dystrophy crystalline of Schnyder" MONDO:0007374 oboInOwl:hasExactSynonym "Schnyder crystalline corneal dystrophy" @@ -153112,11 +154888,11 @@ MONDO:0007374 oboInOwl:hasExactSynonym "SCD" http://purl.obolibrary.org/obo/mond MONDO:0007374 oboInOwl:hasExactSynonym "SCCD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0051171 oboInOwl:hasExactSynonym "regulation of nitrogen metabolism" GO:0051171 oboInOwl:hasExactSynonym "regulation of nitrogen metabolic process" +MONDO:0006351 oboInOwl:hasExactSynonym "parachordoma" MONDO:0004988 oboInOwl:hasExactSynonym "mammary adenocarcinoma" MONDO:0004988 oboInOwl:hasExactSynonym "adenocarcinoma of breast" MONDO:0004988 oboInOwl:hasExactSynonym "breast adenocarcinoma" MONDO:0004988 oboInOwl:hasExactSynonym "adenocarcinoma of the breast" -MONDO:0006351 oboInOwl:hasExactSynonym "parachordoma" MONDO:0021098 oboInOwl:hasExactSynonym "papillomatosis" MONDO:0010623 oboInOwl:hasExactSynonym "Ichthyosis-male hypogonadism syndrome" MONDO:0010623 oboInOwl:hasExactSynonym "ichthyosis and male hypogonadism" @@ -153141,11 +154917,13 @@ MONDO:0011168 oboInOwl:hasExactSynonym "type 1 diabetes mellitus caused by mutat MONDO:0011168 oboInOwl:hasExactSynonym "IL2RA type 1 diabetes mellitus" MONDO:0011168 oboInOwl:hasExactSynonym "IDDM10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011168 oboInOwl:hasExactSynonym "diabetes mellitus, insulin-dependent, type 10" +MONDO:0011168 oboInOwl:hasExactSynonym "diabetes, mellitus, insulin-dependent, susceptibility to, 10" GO:0032940 oboInOwl:hasExactSynonym "cellular secretion" MONDO:0012114 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome, Beasley-Cohen type" MONDO:0014567 oboInOwl:hasExactSynonym "glutamate pyruvate transaminase 2 deficiency" MONDO:0014567 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 49" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014567 oboInOwl:hasExactSynonym "MRT49" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0014567 oboInOwl:hasExactSynonym "neurodevelopmental disorder with microcephaly and spastic paraplegia" MONDO:0014567 oboInOwl:hasExactSynonym "postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome" MONDO:0014567 oboInOwl:hasExactSynonym "GPT2 deficiency" MONDO:0014567 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive 49" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -153155,6 +154933,7 @@ MONDO:0014919 oboInOwl:hasExactSynonym "sessile serrated polyposis cancer syndro MONDO:0014919 oboInOwl:hasExactSynonym "sessile serrated polyposis cancer syndrome" MONDO:0007792 oboInOwl:hasExactSynonym "familial hypocalciuric hypercalcemia type 2" MONDO:0007792 oboInOwl:hasExactSynonym "hypocalciuric hypercalcemia type II" +MONDO:0007792 oboInOwl:hasExactSynonym "hpocalciuric hypercalcemia, type II" MONDO:0007792 oboInOwl:hasExactSynonym "HHC2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007792 oboInOwl:hasExactSynonym "FHH type 2" MONDO:0014450 oboInOwl:hasExactSynonym "isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF" @@ -153210,6 +154989,7 @@ MONDO:0010215 oboInOwl:hasExactSynonym "xeroderma pigmentosum, complementation g MONDO:0010215 oboInOwl:hasExactSynonym "xeroderma pigmentosum VI" MONDO:0010215 oboInOwl:hasExactSynonym "xeroderma pigmentosum group type F" MONDO:0010215 oboInOwl:hasExactSynonym "ERCC4 xeroderma pigmentosum" +MONDO:0010215 oboInOwl:hasExactSynonym "xeroderma pigmentosum, group F" MONDO:0010215 oboInOwl:hasExactSynonym "XP-F" MONDO:0010215 oboInOwl:hasExactSynonym "XP, group F" MONDO:0010215 oboInOwl:hasExactSynonym "xeroderma pigmentosum group F" @@ -153231,6 +155011,7 @@ HP:0002693 oboInOwl:hasExactSynonym "Abnormality of the skull base" http://purl. HP:0002693 oboInOwl:hasExactSynonym "Abnormality of cranial base" MONDO:0021722 oboInOwl:hasExactSynonym "vulvodynia" MONDO:0010438 oboInOwl:hasExactSynonym "paroxysmal nocturnal hemoglobinuria type 1" +MONDO:0010438 oboInOwl:hasExactSynonym "paroxysmal nocturnal hemoglobinuria, somatic" MONDO:0010438 oboInOwl:hasExactSynonym "PIGA paroxysmal nocturnal hemoglobinuria" MONDO:0010438 oboInOwl:hasExactSynonym "paroxysmal nocturnal hemoglobinuria 1" MONDO:0010438 oboInOwl:hasExactSynonym "pIgA paroxysmal nocturnal hemoglobinuria" @@ -153330,6 +155111,7 @@ MONDO:0007411 oboInOwl:hasExactSynonym "cutis laxa, autosomal dominant type 1" MONDO:0007411 oboInOwl:hasExactSynonym "ADCL1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007411 oboInOwl:hasExactSynonym "ELN autosomal dominant cutis laxa" MONDO:0007411 oboInOwl:hasExactSynonym "cutis laxa, autosomal dominant 1" +MONDO:0007411 oboInOwl:hasExactSynonym "cutis laxa, autosomal dominant" MONDO:0007411 oboInOwl:hasExactSynonym "autosomal dominant cutis laxa caused by mutation in ELN" MONDO:0004337 oboInOwl:hasExactSynonym "anal margin Paget's disease" MONDO:0004337 oboInOwl:hasExactSynonym "Paget disease of the anal margin" @@ -153379,6 +155161,7 @@ MONDO:0018614 oboInOwl:hasExactSynonym "undetermined EOEE" CL:0000954 oboInOwl:hasExactSynonym "small pre-BII cell" MONDO:0012388 oboInOwl:hasExactSynonym "myopia 11, autosomal dominant" MONDO:0012388 oboInOwl:hasExactSynonym "MYP11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012388 oboInOwl:hasExactSynonym "myopia 11" MONDO:0020000 oboInOwl:hasExactSynonym "rare respiratory system disease" MONDO:0003455 oboInOwl:hasExactSynonym "bile duct papillary epithelial neoplasm" MONDO:0003455 oboInOwl:hasExactSynonym "IPN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -153408,6 +155191,7 @@ MONDO:0002432 oboInOwl:hasExactSynonym "malignant tumor of acoustic vestibular n MONDO:0002432 oboInOwl:hasExactSynonym "malignant eighth cranial nerve neoplasm" MONDO:0002432 oboInOwl:hasExactSynonym "malignant acoustic nerve neoplasm" MONDO:0002432 oboInOwl:hasExactSynonym "malignant tumor of vestibulocochlear nerve" +MONDO:0030837 oboInOwl:hasExactSynonym "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant" MONDO:0030837 oboInOwl:hasExactSynonym "NEDMILEG" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0022430 oboInOwl:hasExactSynonym "persistent fetal circulation" MONDO:0022430 oboInOwl:hasExactSynonym "persistent pulmonary hypertension of the newborn" @@ -153444,6 +155228,7 @@ MONDO:0006382 oboInOwl:hasExactSynonym "poorly differentiated thyroid gland carc MONDO:0006382 oboInOwl:hasExactSynonym "thyroid gland poorly differentiated carcinoma" MONDO:0006382 oboInOwl:hasExactSynonym "poorly differentiated carcinoma of the thyroid gland" MONDO:0006382 oboInOwl:hasExactSynonym "insular carcinoma" +MONDO:0020495 oboInOwl:hasExactSynonym "PEHO syndrome-like" MONDO:0020495 oboInOwl:hasExactSynonym "peho-like syndrome" MONDO:0020495 oboInOwl:hasExactSynonym "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome" MONDO:0001673 oboInOwl:hasExactSynonym "diarrhoea" @@ -153479,32 +155264,33 @@ MONDO:0001881 oboInOwl:hasExactSynonym "toxic shock syndrome" MONDO:0001881 oboInOwl:hasExactSynonym "toxic shock" MONDO:0001881 oboInOwl:hasExactSynonym "toxic shock syndrome, (TSS)" MONDO:0007784 oboInOwl:hasExactSynonym "PRTH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009340 oboInOwl:hasExactSynonym "hemolytic anemia due to hexokinase deficiency" GO:0006707 oboInOwl:hasExactSynonym "cholesterol degradation" GO:0006707 oboInOwl:hasExactSynonym "cholesterol catabolism" GO:0006707 oboInOwl:hasExactSynonym "cholesterol breakdown" MONDO:0018417 oboInOwl:hasExactSynonym "SPG60" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0004910 oboInOwl:hasExactSynonym "floppy mitral valve" +MONDO:0004910 oboInOwl:hasExactSynonym "prolapse, mitral valve" +MONDO:0004910 oboInOwl:hasExactSynonym "barlow's syndrome" +MONDO:0004910 oboInOwl:hasExactSynonym "valve, prolapse Of mitral" +MONDO:0004910 oboInOwl:hasExactSynonym "mitral valve prolapse syndrome" +MONDO:0004910 oboInOwl:hasExactSynonym "mitral valve prolapse" +MONDO:0004910 oboInOwl:hasExactSynonym "mitral valve prolapse (disease)" +MONDO:0020682 oboInOwl:hasExactSynonym "xylosylprotein 4-Beta-galactosyltransferase deficiency" MONDO:0020682 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome, progeroid type, 1" MONDO:0020682 oboInOwl:hasExactSynonym "PDS, defective biosynthesis of" MONDO:0020682 oboInOwl:hasExactSynonym "proteodermatan sulfate, defective biosynthesis of" MONDO:0020682 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome, progeroid type 1" MONDO:0020682 oboInOwl:hasExactSynonym "XGPT deficiency" -MONDO:0020682 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome with Short stature and Limb anomalies" MONDO:0020682 oboInOwl:hasExactSynonym "dermatan sulfate proteoglycan" +MONDO:0020682 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome with Short stature and Limb anomalies" MONDO:0020682 oboInOwl:hasExactSynonym "galactosyltransferase 1 deficiency" MONDO:0020682 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome, spondylodysplastic type, 1" MONDO:0020682 oboInOwl:hasExactSynonym "EDSSPD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020682 oboInOwl:hasExactSynonym "xylosylprotein 4-Beta-galactosyltransferase deficiency" -MONDO:0004910 oboInOwl:hasExactSynonym "floppy mitral valve" -MONDO:0004910 oboInOwl:hasExactSynonym "prolapse, mitral valve" -MONDO:0004910 oboInOwl:hasExactSynonym "barlow's syndrome" -MONDO:0004910 oboInOwl:hasExactSynonym "valve, prolapse Of mitral" -MONDO:0004910 oboInOwl:hasExactSynonym "mitral valve prolapse syndrome" -MONDO:0004910 oboInOwl:hasExactSynonym "mitral valve prolapse" -MONDO:0004910 oboInOwl:hasExactSynonym "mitral valve prolapse (disease)" +HP:0004327 oboInOwl:hasExactSynonym "Abnormal vitreous humour morphology" http://purl.obolibrary.org/obo/hp.obo#uk_spelling MONDO:0010814 oboInOwl:hasExactSynonym "chondrodysplasia-disorder of sex development syndrome" MONDO:0010814 oboInOwl:hasExactSynonym "chondrodysplasia-pseudohermaphroditism syndrome" MONDO:0010814 oboInOwl:hasExactSynonym "Nivelon-Nivelon-Mabille syndrome" -HP:0004327 oboInOwl:hasExactSynonym "Abnormal vitreous humour morphology" http://purl.obolibrary.org/obo/hp.obo#uk_spelling MONDO:0021301 oboInOwl:hasExactSynonym "papillomatosis, subareolar duct" MONDO:0021301 oboInOwl:hasExactSynonym "adenoma of the nipple" MONDO:0021301 oboInOwl:hasExactSynonym "subareolar duct papillomatosis" @@ -153548,7 +155334,9 @@ MONDO:0013378 oboInOwl:hasExactSynonym "orofacial cleft 10" MONDO:0013378 oboInOwl:hasExactSynonym "orofacial cleft caused by mutation in SUMO1" MONDO:0013378 oboInOwl:hasExactSynonym "orofacial cleft type 10" MONDO:0013378 oboInOwl:hasExactSynonym "SUMO1 orofacial cleft" +MONDO:0013378 oboInOwl:hasExactSynonym "orofacial cleft 10, isolated cases" MONDO:0014452 oboInOwl:hasExactSynonym "familial dysfibrinogenemia" +MONDO:0014452 oboInOwl:hasExactSynonym "hypodysfibrinogenemia" MONDO:0014452 oboInOwl:hasExactSynonym "dysfibrinogenemia" GO:0051459 oboInOwl:hasExactSynonym "regulation of adrenocorticotropin secretion" GO:0051459 oboInOwl:hasExactSynonym "regulation of corticotropic hormone secretion" @@ -153558,6 +155346,7 @@ GO:0051459 oboInOwl:hasExactSynonym "regulation of ACTH secretion" GO:0051459 oboInOwl:hasExactSynonym "regulation of adrenotropin hormone secretion" MONDO:0007888 oboInOwl:hasExactSynonym "HLRCC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007888 oboInOwl:hasExactSynonym "MCUL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0007888 oboInOwl:hasExactSynonym "leiomyomatosis and renal cell cancer" MONDO:0007888 oboInOwl:hasExactSynonym "hereditary leiomyomatosis and renal cell carcinoma" MONDO:0007888 oboInOwl:hasExactSynonym "familial leiomyomatosis" MONDO:0007888 oboInOwl:hasExactSynonym "multiple cutaneous and uterine leiomyomas" @@ -153643,7 +155432,9 @@ MONDO:0005904 oboInOwl:hasExactSynonym "pericardium inflammation" MONDO:0005904 oboInOwl:hasExactSynonym "pericarditis (disease)" CL:0002431 oboInOwl:hasExactSynonym "T.4int8+.th" MONDO:0010100 oboInOwl:hasExactSynonym "GM2 gangliosidosis, B, B1 variant" +MONDO:0010100 oboInOwl:hasExactSynonym "GM2-gangliosidosis, several forms" MONDO:0010100 oboInOwl:hasExactSynonym "hexosaminidase A deficiency" +MONDO:0010100 oboInOwl:hasExactSynonym "Hex A pseudodeficiency" MONDO:0010100 oboInOwl:hasExactSynonym "disease, Tay-Sachs" MONDO:0010100 oboInOwl:hasExactSynonym "Tay-Sachs disease" MONDO:0014255 oboInOwl:hasExactSynonym "complement factor b deficiency" @@ -153778,13 +155569,16 @@ MONDO:0060622 oboInOwl:hasExactSynonym "neurodevelopmental disorder with severe MONDO:0008938 oboInOwl:hasExactSynonym "EOCA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008938 oboInOwl:hasExactSynonym "Harding ataxia" MONDO:0008938 oboInOwl:hasExactSynonym "EOCARR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032614 oboInOwl:hasExactSynonym "epidermodysplasia verruciformis 2" GO:1903578 oboInOwl:hasExactSynonym "regulation of ATP metabolism" MONDO:0010491 oboInOwl:hasExactSynonym "familial infantile gigantism due to dup(X)q(26)" MONDO:0010491 oboInOwl:hasExactSynonym "familial infantile gigantism due to Xq26 microduplication" +MONDO:0010491 oboInOwl:hasExactSynonym "chromosome xq26.3 duplication syndrome, X-linked dominant" MONDO:0010491 oboInOwl:hasExactSynonym "X-LAG (X-linked acrogigantism) due to dup(X)q(26)" GO:0006413 oboInOwl:hasExactSynonym "translation initiation" MONDO:0013890 oboInOwl:hasExactSynonym "myopathy, centronuclear, type 4" MONDO:0013890 oboInOwl:hasExactSynonym "centronuclear myopathy type 4" +MONDO:0013890 oboInOwl:hasExactSynonym "centronuclear myopathy 4" MONDO:0013890 oboInOwl:hasExactSynonym "CNM4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016878 oboInOwl:hasExactSynonym "partial monosomy of chromosome 16" MONDO:0016878 oboInOwl:hasExactSynonym "partial deletion of chromosome type 16" @@ -153812,13 +155606,15 @@ MONDO:0000536 oboInOwl:hasExactSynonym "pharyngeal throat squamous cell cancer" MONDO:0000536 oboInOwl:hasExactSynonym "pharyngeal squamous cell carcinoma" MONDO:0000536 oboInOwl:hasExactSynonym "pharyngeal squam. cell carcinoma" MONDO:0000536 oboInOwl:hasExactSynonym "pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma" +MONDO:0020721 oboInOwl:hasExactSynonym "sideroblastic anemia, X-linked" MONDO:0020721 oboInOwl:hasExactSynonym "X-linked sideroblastic anemia" +MONDO:0020721 oboInOwl:hasExactSynonym "anemia, sideroblastic, 1, X-linked recessive" MONDO:0020721 oboInOwl:hasExactSynonym "XLSA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020721 oboInOwl:hasExactSynonym "sideroblastic anemia, X-linked" GO:0070094 oboInOwl:hasExactSynonym "up-regulation of glucagon secretion" GO:0070094 oboInOwl:hasExactSynonym "up regulation of glucagon secretion" GO:0070094 oboInOwl:hasExactSynonym "upregulation of glucagon secretion" MONDO:0009596 oboInOwl:hasExactSynonym "metaphyseal chondrodysplasia, Pena type" +MONDO:0008226 oboInOwl:hasExactSynonym "periodontitis 1, juvenile" MONDO:0008226 oboInOwl:hasExactSynonym "juvenile periodontitis" MONDO:0008226 oboInOwl:hasExactSynonym "periodontitis, aggressive, type 1" MONDO:0012945 oboInOwl:hasExactSynonym "FIG4 amyotrophic lateral sclerosis" @@ -153900,7 +155696,9 @@ MONDO:0021294 oboInOwl:hasExactSynonym "cardia of stomach in situ carcinoma" MONDO:0021294 oboInOwl:hasExactSynonym "carcinoma in situ of the cardia of the stomach" MONDO:0001339 oboInOwl:hasExactSynonym "thrombotic disease of portal vein" MONDO:0001339 oboInOwl:hasExactSynonym "portal vein thrombotic disease" +MONDO:0032849 oboInOwl:hasExactSynonym "Halperin-Birk syndrome" MONDO:0010131 oboInOwl:hasExactSynonym "thyroid hormone Resistance" +MONDO:0010131 oboInOwl:hasExactSynonym "thyroid hormone resistance, autosomal recessive" MONDO:0010131 oboInOwl:hasExactSynonym "thyroid hormone Resistance syndrome" MONDO:0010131 oboInOwl:hasExactSynonym "thyroid hormone resistance, generalized, autosomal recessive" MONDO:0016824 oboInOwl:hasExactSynonym "multicentric myofibromatosis" @@ -153945,6 +155743,7 @@ MONDO:0013712 oboInOwl:hasExactSynonym "surfactant metabolism dysfunction, pulmo MONDO:0013712 oboInOwl:hasExactSynonym "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB" MONDO:0013712 oboInOwl:hasExactSynonym "CSF2RB hereditary pulmonary alveolar proteinosis" ECTO:0000730 oboInOwl:hasExactSynonym "exposure to neurotoxin" +MONDO:0033312 oboInOwl:hasExactSynonym "schizophrenia 19, susceptibility to" MONDO:0033312 oboInOwl:hasExactSynonym "schizophrenia 19" MONDO:0019419 oboInOwl:hasExactSynonym "Johnson syndrome" MONDO:0030335 oboInOwl:hasExactSynonym "microvillus inclusion disease 2" @@ -153971,9 +155770,11 @@ MONDO:0011754 oboInOwl:hasExactSynonym "hyperreninemic hypoaldosteronism, famili MONDO:0011754 oboInOwl:hasExactSynonym "FHHA2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011754 oboInOwl:hasExactSynonym "aldosterone synthase deficiency unrelated to the aldosterone synthase gene" MONDO:0011754 oboInOwl:hasExactSynonym "aldosterone synthase deficiency unrelated to CYP11B2" +MONDO:0010984 oboInOwl:hasExactSynonym "Usher syndrome, type 1D/F digenic" MONDO:0010984 oboInOwl:hasExactSynonym "Usher syndrome type 1D" MONDO:0010984 oboInOwl:hasExactSynonym "USH1D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010984 oboInOwl:hasExactSynonym "Usher syndrome type ID" +MONDO:0020723 oboInOwl:hasExactSynonym "vitamin D-dependent rickets, type I" MONDO:0020723 oboInOwl:hasExactSynonym "vitamin D-dependent rickets, type 1A" MONDO:0011930 oboInOwl:hasExactSynonym "epilepsy, familial adult myoclonic, 2" MONDO:0011930 oboInOwl:hasExactSynonym "ADRA2B epilepsy, familial adult myoclonic" @@ -154042,6 +155843,7 @@ MONDO:0009269 oboInOwl:hasExactSynonym "ADAMTSL2 geleophysic dysplasia" MONDO:0009269 oboInOwl:hasExactSynonym "Geleophysic dysplasia type 1" MONDO:0012618 oboInOwl:hasExactSynonym "MRT10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012618 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 10" +MONDO:0012618 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive 10/20" MONDO:0006888 oboInOwl:hasExactSynonym "paraneoplastic polyneuropathy" MONDO:0019311 oboInOwl:hasExactSynonym "wooly hair nevus" MONDO:0004307 oboInOwl:hasExactSynonym "sarcomatosis of meninges" @@ -154115,6 +155917,7 @@ MONDO:0010587 oboInOwl:hasExactSynonym "X-linked epidermodysplasia verruciformis MONDO:0100451 oboInOwl:hasExactSynonym "CEP290 ciliopathy" MONDO:0011533 oboInOwl:hasExactSynonym "preaxial brachydactyly syndrome, TEMTAMY type" MONDO:0011533 oboInOwl:hasExactSynonym "temtamy preaxial brachydactyly syndrome" +MONDO:0008572 oboInOwl:hasExactSynonym "hypoplastic or aplastic tibia with polydactyly" MONDO:0008572 oboInOwl:hasExactSynonym "tibia, hypoplasia or aplasia of, with polydactyly" MONDO:0013127 oboInOwl:hasExactSynonym "asphyxiating thoracic dystrophy 3" MONDO:0013127 oboInOwl:hasExactSynonym "Verma-Naumoff syndrome" @@ -154133,8 +155936,8 @@ MONDO:0013127 oboInOwl:hasExactSynonym "short rib-polydactyly syndrome, type IIB MONDO:0013127 oboInOwl:hasExactSynonym "SRPS3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013127 oboInOwl:hasExactSynonym "short-rib thoracic dysplasia 3 with or without polydactyly" MONDO:0013127 oboInOwl:hasExactSynonym "SRPS2B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0014685 oboInOwl:hasExactSynonym "epilepsy, progressive myoclonic, type 9" MONDO:0014685 oboInOwl:hasExactSynonym "LMNB2 progressive myoclonic epilepsy" +MONDO:0014685 oboInOwl:hasExactSynonym "epilepsy, progressive myoclonic, type 9" MONDO:0014685 oboInOwl:hasExactSynonym "PME type 9" MONDO:0014685 oboInOwl:hasExactSynonym "progressive myoclonic epilepsy due to LMNB2 deficiency" MONDO:0014685 oboInOwl:hasExactSynonym "progressive myoclonus epilepsy type 9" @@ -154232,7 +156035,9 @@ MONDO:0010216 oboInOwl:hasExactSynonym "XP-G" MONDO:0010216 oboInOwl:hasExactSynonym "XPG" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010216 oboInOwl:hasExactSynonym "XP7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010216 oboInOwl:hasExactSynonym "XP group G" +MONDO:0010216 oboInOwl:hasExactSynonym "xeroderma pigmentosum, group G" MONDO:0010216 oboInOwl:hasExactSynonym "xeroderma pigmentosum group G" +MONDO:0010216 oboInOwl:hasExactSynonym "xeroderma pigmentosum, group G/Cockayne syndrome" MONDO:0010216 oboInOwl:hasExactSynonym "xeroderma pigmentosum group type G" MONDO:0010216 oboInOwl:hasExactSynonym "ERCC5 xeroderma pigmentosum" MONDO:0004464 oboInOwl:hasExactSynonym "urethral nephrogenic adenoma" @@ -154246,6 +156051,7 @@ MONDO:0044789 oboInOwl:hasExactSynonym "digital papillary carcinoma of skin" MONDO:0044789 oboInOwl:hasExactSynonym "digit papillary eccrine carcinoma" MONDO:0009152 oboInOwl:hasExactSynonym "ECTOL2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009152 oboInOwl:hasExactSynonym "ectopia lentis 2, isolated, autosomal recessive" +MONDO:0009152 oboInOwl:hasExactSynonym "ectopia lentis, isolated, autosomal recessive" CHEBI:25698 oboInOwl:hasExactSynonym "ethers" CHEBI:25698 oboInOwl:hasExactSynonym "ether" MONDO:0016143 oboInOwl:hasExactSynonym "gamma-sarcoglycanopathy" @@ -154292,16 +156098,17 @@ MONDO:0002078 oboInOwl:hasExactSynonym "holes in the heart" MONDO:0002078 oboInOwl:hasExactSynonym "congenital septal defect of heart" MONDO:0018778 oboInOwl:hasExactSynonym "Intermediate hereditary motor and sensory neuropathy" MONDO:0018778 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease intermediate type" -MONDO:0009659 oboInOwl:hasExactSynonym "mucopolysaccharidosis type IVA" -MONDO:0009659 oboInOwl:hasExactSynonym "N-acetylgalactosamine-6-sulfate sulfatase deficiency" -MONDO:0009659 oboInOwl:hasExactSynonym "Morquio syndrome A" -MONDO:0009659 oboInOwl:hasExactSynonym "Morquio disease type A" -MONDO:0009659 oboInOwl:hasExactSynonym "MPS4A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009659 oboInOwl:hasExactSynonym "MPSIVA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009659 oboInOwl:hasExactSynonym "galactosamine-6-sulfatase deficiency" -MONDO:0009659 oboInOwl:hasExactSynonym "MPS IV A" -MONDO:0009659 oboInOwl:hasExactSynonym "GALNS deficiency" +MONDO:0009659 oboInOwl:hasExactSynonym "mucopolysaccharidosis IVA" +MONDO:0009659 oboInOwl:hasExactSynonym "Morquio syndrome A" +MONDO:0009659 oboInOwl:hasExactSynonym "N-acetylgalactosamine-6-sulfate sulfatase deficiency" +MONDO:0009659 oboInOwl:hasExactSynonym "mucopolysaccharidosis type IVA" MONDO:0009659 oboInOwl:hasExactSynonym "mucopolysaccharidosis type 4A" +MONDO:0009659 oboInOwl:hasExactSynonym "GALNS deficiency" +MONDO:0009659 oboInOwl:hasExactSynonym "MPS IV A" +MONDO:0009659 oboInOwl:hasExactSynonym "MPS4A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009659 oboInOwl:hasExactSynonym "Morquio disease type A" GO:0009891 oboInOwl:hasExactSynonym "up regulation of biosynthetic process" GO:0009891 oboInOwl:hasExactSynonym "positive regulation of biosynthesis" GO:0009891 oboInOwl:hasExactSynonym "up-regulation of biosynthetic process" @@ -154332,12 +156139,12 @@ MONDO:0002947 oboInOwl:hasExactSynonym "skin adamantinoid basal cell carcinoma" CL:0000955 oboInOwl:hasExactSynonym "pre-B-lymphocyte" CL:0000955 oboInOwl:hasExactSynonym "pre-BII cell" MONDO:0012389 oboInOwl:hasExactSynonym "myopia 12, autosomal dominant" +MONDO:0012389 oboInOwl:hasExactSynonym "myopia 12" MONDO:0012389 oboInOwl:hasExactSynonym "MYP12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011019 oboInOwl:hasExactSynonym "Devriendt-Vandenberghe-Fryns syndrome" MONDO:0014850 oboInOwl:hasExactSynonym "retinitis pigmentosa and erythrocytic microcytosis" MONDO:0014850 oboInOwl:hasExactSynonym "RPEM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014850 oboInOwl:hasExactSynonym "retinitis pigmentosa and erythrocytic microcytosis; RPEM" -MONDO:0004360 oboInOwl:hasExactSynonym "osteogenic sarcoma of breast" MONDO:0004360 oboInOwl:hasExactSynonym "osteogenic sarcoma of the breast" MONDO:0004360 oboInOwl:hasExactSynonym "osteogenic breast sarcoma" MONDO:0004360 oboInOwl:hasExactSynonym "breast extraskeletal osteosarcoma" @@ -154345,6 +156152,7 @@ MONDO:0004360 oboInOwl:hasExactSynonym "breast osteosarcoma" MONDO:0004360 oboInOwl:hasExactSynonym "breast osteosarcoma (disease)" MONDO:0004360 oboInOwl:hasExactSynonym "osteosarcoma of the breast" MONDO:0004360 oboInOwl:hasExactSynonym "osteosarcoma of breast" +MONDO:0004360 oboInOwl:hasExactSynonym "osteogenic sarcoma of breast" MONDO:0004013 oboInOwl:hasExactSynonym "adult botryoid-type embryonal rhabdomyosarcoma of the vagina" MONDO:0004013 oboInOwl:hasExactSynonym "adult sarcoma Botryoides of the vagina" MONDO:0004013 oboInOwl:hasExactSynonym "botryoid-type embryonal rhabdomyosarcoma of the vagina of adults" @@ -154356,6 +156164,7 @@ MONDO:0004338 oboInOwl:hasExactSynonym "malignant retinal cell neoplasm" MONDO:0004338 oboInOwl:hasExactSynonym "retinal cell cancer" MONDO:0004338 oboInOwl:hasExactSynonym "malignant neoplasm of retinal cell" MONDO:0009154 oboInOwl:hasExactSynonym "NKX2-5 hypothyroidism, congenital, nongoitrous" +MONDO:0009154 oboInOwl:hasExactSynonym "hypothyroidism, congenital nongoitrous, 5" MONDO:0009154 oboInOwl:hasExactSynonym "hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5" MONDO:0009154 oboInOwl:hasExactSynonym "CHNG5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009154 oboInOwl:hasExactSynonym "hypothyroidism, congenital, nongoitrous, 5" @@ -154364,6 +156173,7 @@ MONDO:0011429 oboInOwl:hasExactSynonym "JIA" http://purl.obolibrary.org/obo/mond MONDO:0011429 oboInOwl:hasExactSynonym "Juvenile idiopathic arthritis" MONDO:0011429 oboInOwl:hasExactSynonym "juvenile idiopathic arthritis" MONDO:0011429 oboInOwl:hasExactSynonym "juvenile rheumatoid arthritis" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0011429 oboInOwl:hasExactSynonym "rheumatoid arthritis, systemic juvenile, susceptibility to" MONDO:0020496 oboInOwl:hasExactSynonym "hereditary porencephaly" MONDO:0011206 oboInOwl:hasExactSynonym "ventriculomegaly with defects of the radius and kidney" NCBITaxon:121228 oboInOwl:hasExactSynonym "public louse" http://purl.obolibrary.org/obo/ncbitaxon#common_name @@ -154429,11 +156239,13 @@ MONDO:0004183 oboInOwl:hasExactSynonym "axonal neuropathy" MONDO:0004183 oboInOwl:hasExactSynonym "peripheral neuropathy of axon" MONDO:0006383 oboInOwl:hasExactSynonym "primary cutaneous diffuse large B-cell lymphoma, Leg type" MONDO:0006383 oboInOwl:hasExactSynonym "PCDLBCL,LT" -MONDO:0001674 oboInOwl:hasExactSynonym "colon diverticulitis" -MONDO:0001674 oboInOwl:hasExactSynonym "colonic diverticular disease" NCBITaxon:9925 oboInOwl:hasExactSynonym "goat" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name NCBITaxon:9925 oboInOwl:hasExactSynonym "domestic goat" http://purl.obolibrary.org/obo/ncbitaxon#common_name NCBITaxon:9925 oboInOwl:hasExactSynonym "goats" http://purl.obolibrary.org/obo/ncbitaxon#common_name +MONDO:0056815 oboInOwl:hasExactSynonym "liver adenosquamous cancer" +MONDO:0056815 oboInOwl:hasExactSynonym "liver adenosquamous carcinoma" +MONDO:0001674 oboInOwl:hasExactSynonym "colon diverticulitis" +MONDO:0001674 oboInOwl:hasExactSynonym "colonic diverticular disease" MONDO:0008201 oboInOwl:hasExactSynonym "Parkinsonism with alveolar hypoventilation and mental depression" MONDO:0008201 oboInOwl:hasExactSynonym "Perry syndrome" MONDO:0008201 oboInOwl:hasExactSynonym "parkinsonism with alveolar hypoventilation and mental depression" @@ -154443,24 +156255,24 @@ MONDO:0014138 oboInOwl:hasExactSynonym "NEM8" http://purl.obolibrary.org/obo/mon MONDO:0014138 oboInOwl:hasExactSynonym "nemaline myopathy caused by mutation in KLHL40" MONDO:0014138 oboInOwl:hasExactSynonym "KLHL40 nemaline myopathy" MONDO:0014138 oboInOwl:hasExactSynonym "nemaline myopathy 8, autosomal recessive" -MONDO:0056815 oboInOwl:hasExactSynonym "liver adenosquamous cancer" -MONDO:0056815 oboInOwl:hasExactSynonym "liver adenosquamous carcinoma" MONDO:0003874 oboInOwl:hasExactSynonym "serous surface papillary carcinoma of the ovary" MONDO:0003874 oboInOwl:hasExactSynonym "ovary papillary carcinoma" MONDO:0003874 oboInOwl:hasExactSynonym "serous surface papillary carcinoma of ovary" MONDO:0003874 oboInOwl:hasExactSynonym "ovarian serous surface papillary adenocarcinoma" -MONDO:0009412 oboInOwl:hasExactSynonym "scurvy" -MONDO:0009412 oboInOwl:hasExactSynonym "vitamin C deficiency" MONDO:0002620 oboInOwl:hasExactSynonym "localized osteogenic sarcoma" MONDO:0002620 oboInOwl:hasExactSynonym "localized osteosarcoma" MONDO:0002620 oboInOwl:hasExactSynonym "osteosarcoma, localized" +MONDO:0009412 oboInOwl:hasExactSynonym "scurvy" +MONDO:0009412 oboInOwl:hasExactSynonym "vitamin C deficiency" MONDO:0013075 oboInOwl:hasExactSynonym "Herpes simplex encephalitis, susceptibility to, type 2" MONDO:0013075 oboInOwl:hasExactSynonym "herpes simplex encephalitis, susceptibility to, 2" +MONDO:0013075 oboInOwl:hasExactSynonym "immunodeficiency 83, susceptibility to viral infections" MONDO:0005820 oboInOwl:hasExactSynonym "LF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005820 oboInOwl:hasExactSynonym "Lassa hemorrhagic fever" MONDO:0044628 oboInOwl:hasExactSynonym "SIX2-related FND" MONDO:0012807 oboInOwl:hasExactSynonym "EBS-PA" MONDO:0012807 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex with pyloric atresia" +MONDO:0012807 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex 5C, with pyloric atresia" MONDO:0002726 oboInOwl:hasExactSynonym "solitary mastocytoma of the skin" MONDO:0002726 oboInOwl:hasExactSynonym "skin solitary mastocytoma" MONDO:0002726 oboInOwl:hasExactSynonym "solitary mastocytoma of skin" @@ -154505,6 +156317,7 @@ MONDO:0001714 oboInOwl:hasExactSynonym "nonvenereal endemic syphilis" MONDO:0000545 oboInOwl:hasExactSynonym "sublingual gland adenoid cystic carcinoma" MONDO:0012671 oboInOwl:hasExactSynonym "ETM3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012671 oboInOwl:hasExactSynonym "tremor, hereditary essential, 3" +MONDO:0012671 oboInOwl:hasExactSynonym "essential tremor, hereditary, 3" MONDO:0005233 oboInOwl:hasExactSynonym "non-small cell lung carcinoma" MONDO:0005233 oboInOwl:hasExactSynonym "non-small cell carcinoma of lung" MONDO:0005233 oboInOwl:hasExactSynonym "non-small cell cancer of lung" @@ -154569,14 +156382,15 @@ MONDO:0002223 oboInOwl:hasExactSynonym "malignant mesothelioma (disease) of ovar MONDO:0002223 oboInOwl:hasExactSynonym "ovarian malignant mesothelioma" MONDO:0002223 oboInOwl:hasExactSynonym "ovary malignant mesothelioma (disease)" MONDO:0003306 oboInOwl:hasExactSynonym "atypical neurofibroma" +MONDO:0011542 oboInOwl:hasExactSynonym "psoriasis susceptibility 6" MONDO:0011542 oboInOwl:hasExactSynonym "psoriasis 6, susceptibility to" MONDO:0011542 oboInOwl:hasExactSynonym "PSORS6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016623 oboInOwl:hasExactSynonym "rare deficiency anemia" MONDO:0015600 oboInOwl:hasExactSynonym "X-linked intellectual disability-microcephaly-testicular failure syndrome" +GO:0032501 oboInOwl:hasExactSynonym "organismal physiological process" MONDO:0003664 oboInOwl:hasExactSynonym "anemia, hemolytic" MONDO:0003664 oboInOwl:hasExactSynonym "anemia hemolytic" MONDO:0003664 oboInOwl:hasExactSynonym "hemolytic anemia" -GO:0032501 oboInOwl:hasExactSynonym "organismal physiological process" MONDO:0014256 oboInOwl:hasExactSynonym "RP67" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014256 oboInOwl:hasExactSynonym "retinitis pigmentosa 67" MONDO:0014256 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation in NEK2" @@ -154600,6 +156414,8 @@ GO:0002821 oboInOwl:hasExactSynonym "up regulation of adaptive immune response" GO:0002821 oboInOwl:hasExactSynonym "up-regulation of adaptive immune response" GO:0002821 oboInOwl:hasExactSynonym "upregulation of adaptive immune response" MONDO:0010628 oboInOwl:hasExactSynonym "immunoglobulin M, level of" +MONDO:0054780 oboInOwl:hasExactSynonym "elliptocytosis-3" +MONDO:0054780 oboInOwl:hasExactSynonym "anemia, neonatal hemolytic, fatal or near-fatal" MONDO:0054780 oboInOwl:hasExactSynonym "elliptocytosis 3" MONDO:0019357 oboInOwl:hasExactSynonym "congenital stenosis of the cervical spine" MONDO:0018481 oboInOwl:hasExactSynonym "undifferentiated esophageal carcinoma" @@ -154628,6 +156444,7 @@ MONDO:0001535 oboInOwl:hasExactSynonym "disorder of vagus nerve" MONDO:0001535 oboInOwl:hasExactSynonym "vagus nerve disease or disorder" MONDO:0001535 oboInOwl:hasExactSynonym "disorder of vagal nerve" MONDO:0001535 oboInOwl:hasExactSynonym "Vagus nerve disorder" +MONDO:0007785 oboInOwl:hasExactSynonym "dystransthyretinemic hyperthyroxinemia" MONDO:0007785 oboInOwl:hasExactSynonym "hyperthyroxinemia, dystransthyretinemic" MONDO:0032778 oboInOwl:hasExactSynonym "AMCM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032778 oboInOwl:hasExactSynonym "arthrogryposis multiplex congenita, myogenic type" @@ -154651,6 +156468,7 @@ MONDO:0008939 oboInOwl:hasExactSynonym "Chiari 4 malformation" MONDO:0008939 oboInOwl:hasExactSynonym "subtotal absence of cerebellum" MONDO:0008939 oboInOwl:hasExactSynonym "near total absence of cerebellum" MONDO:0008939 oboInOwl:hasExactSynonym "congenital cerebellar Hypoplasia" +MONDO:0008939 oboInOwl:hasExactSynonym "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" MONDO:0008939 oboInOwl:hasExactSynonym "Chiari IV malformation" MONDO:0054636 oboInOwl:hasExactSynonym "Skraban-Deardorff syndrome" GO:0009743 oboInOwl:hasExactSynonym "response to carbohydrate stimulus" @@ -154684,18 +156502,19 @@ MONDO:0022529 oboInOwl:hasExactSynonym "nephropathy caused by BK polyomavirus" MONDO:0022529 oboInOwl:hasExactSynonym "BK virus nephropathy" MONDO:0022529 oboInOwl:hasExactSynonym "PVAN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0022529 oboInOwl:hasExactSynonym "nephropathy from BK virus" -ENVO:09000017 oboInOwl:hasExactSynonym "soil nitrogen atom concentration" MONDO:0002022 oboInOwl:hasExactSynonym "orbital region disease or disorder" MONDO:0002022 oboInOwl:hasExactSynonym "disorder of orbital region" MONDO:0002022 oboInOwl:hasExactSynonym "disorder of eye region" MONDO:0002022 oboInOwl:hasExactSynonym "disease of orbital region" MONDO:0002022 oboInOwl:hasExactSynonym "orbital region disease" MONDO:0002022 oboInOwl:hasExactSynonym "disease or disorder of orbital region" +ENVO:09000017 oboInOwl:hasExactSynonym "soil nitrogen atom concentration" MONDO:0005907 oboInOwl:hasExactSynonym "Gulf war syndrome" MONDO:0008227 oboInOwl:hasExactSynonym "peripheral dysostosis" MONDO:0010492 oboInOwl:hasExactSynonym "pituitary gland adenoma caused by mutation in GPR101" MONDO:0010492 oboInOwl:hasExactSynonym "GPR101 pituitary gland adenoma" MONDO:0010492 oboInOwl:hasExactSynonym "pituitary adenoma, growth hormone-secreting, 2" +MONDO:0010492 oboInOwl:hasExactSynonym "pituitary adenoma 2, GH-secreting" MONDO:0010492 oboInOwl:hasExactSynonym "pituitary adenoma, Growth hormone-secreting, type 2" GO:0006414 oboInOwl:hasExactSynonym "translation elongation" MONDO:0001127 oboInOwl:hasExactSynonym "tendinitis of tibialis" @@ -154707,9 +156526,10 @@ GO:0010469 oboInOwl:hasExactSynonym "regulation of signalling receptor activity" MONDO:0016081 oboInOwl:hasExactSynonym "Coronaro-cardiac fistula" MONDO:0016081 oboInOwl:hasExactSynonym "coronary arterial malformations" MONDO:0013934 oboInOwl:hasExactSynonym "Cid due to STK4 deficiency" +MONDO:0013934 oboInOwl:hasExactSynonym "T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations" +GO:0007135 oboInOwl:hasExactSynonym "meiosis II nuclear division" MONDO:0018260 oboInOwl:hasExactSynonym "sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome" MONDO:0018260 oboInOwl:hasExactSynonym "sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome" -GO:0007135 oboInOwl:hasExactSynonym "meiosis II nuclear division" MONDO:0006151 oboInOwl:hasExactSynonym "dysplasia of colon" MONDO:0006151 oboInOwl:hasExactSynonym "colonic dysplasia" MONDO:0006151 oboInOwl:hasExactSynonym "dysplasia of the colon" @@ -154775,6 +156595,7 @@ GO:0001912 oboInOwl:hasExactSynonym "positive regulation of immune cell mediated GO:0001912 oboInOwl:hasExactSynonym "up regulation of leukocyte mediated cytotoxicity" GO:0001912 oboInOwl:hasExactSynonym "positive regulation of leucocyte mediated cytotoxicity" MONDO:0007083 oboInOwl:hasExactSynonym "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia" +MONDO:0007083 oboInOwl:hasExactSynonym "palmoplantar keratoderma with congenital alopecia" MONDO:0007083 oboInOwl:hasExactSynonym "palmoplantar keratoderma and congenital alopecia, Stevanovic type" MONDO:0007083 oboInOwl:hasExactSynonym "PPK-CA, Stevanovic type" MONDO:0007083 oboInOwl:hasExactSynonym "palmoplantar keratoderma and congenital alopecia type 1" @@ -154789,6 +156610,7 @@ MONDO:0013440 oboInOwl:hasExactSynonym "muscular dystrophy-dystroglycanopathy (l MONDO:0013440 oboInOwl:hasExactSynonym "muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related" MONDO:0013440 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1" MONDO:0013440 oboInOwl:hasExactSynonym "LGMD2P" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013526 oboInOwl:hasExactSynonym "epilepsy, progressive myoclonic 6" MONDO:0013526 oboInOwl:hasExactSynonym "North Sea progressive myoclonus epilepsy" MONDO:0013526 oboInOwl:hasExactSynonym "epilepsy, progressive myoclonic, type 6" MONDO:0013526 oboInOwl:hasExactSynonym "progressive myoclonus epilepsy type 6" @@ -154799,9 +156621,9 @@ MONDO:0013526 oboInOwl:hasExactSynonym "progressive myoclonic epilepsy caused by MONDO:0013526 oboInOwl:hasExactSynonym "GOSR2-related progressive myoclonus ataxia" MONDO:0019804 oboInOwl:hasExactSynonym "congenital tracheomalacia" MONDO:0019804 oboInOwl:hasExactSynonym "congenital major airway collapse" -MONDO:0007950 oboInOwl:hasExactSynonym "Mast cell disease" -MONDO:0007950 oboInOwl:hasExactSynonym "mast cell hyperplasia" MONDO:0007950 oboInOwl:hasExactSynonym "mastocytosis" +MONDO:0007950 oboInOwl:hasExactSynonym "mast cell hyperplasia" +MONDO:0007950 oboInOwl:hasExactSynonym "Mast cell disease" MONDO:0021498 oboInOwl:hasExactSynonym "benign tumor of placenta" MONDO:0021498 oboInOwl:hasExactSynonym "benign placenta tumor" MONDO:0021498 oboInOwl:hasExactSynonym "placental neoplasms, benign" @@ -154819,6 +156641,7 @@ MONDO:0005899 oboInOwl:hasExactSynonym "parotid gland disease" MONDO:0018607 oboInOwl:hasExactSynonym "CHR-RPE" MONDO:0018607 oboInOwl:hasExactSynonym "combined hamartoma of the retina and RPE" MONDO:0010271 oboInOwl:hasExactSynonym "Xq28 contiguous gene deletion syndrome" +MONDO:0054801 oboInOwl:hasExactSynonym "erythrocytosis 6" MONDO:0012124 oboInOwl:hasExactSynonym "SIDDT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0002117 oboInOwl:hasExactSynonym "sarcoma of the pancreas" MONDO:0002117 oboInOwl:hasExactSynonym "pancreas sarcoma" @@ -154846,28 +156669,28 @@ MONDO:0016649 oboInOwl:hasExactSynonym "WARBM" http://purl.obolibrary.org/obo/mo MONDO:0016649 oboInOwl:hasExactSynonym "Warburg micro syndrome" MONDO:0016825 oboInOwl:hasExactSynonym "mitochondrial myopathy with lactic acidosis" MONDO:0016825 oboInOwl:hasExactSynonym "mitochondrial myopathy-lactic acidosis-hearing loss syndrome" +MONDO:0020488 oboInOwl:hasExactSynonym "atypical PSP syndrome" +MONDO:0004716 oboInOwl:hasExactSynonym "stomach carcinoma stage 0" +MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 stomach carcinoma" MONDO:0004716 oboInOwl:hasExactSynonym "carcinoma in situ of the stomach" MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 stomach cancer" -MONDO:0004716 oboInOwl:hasExactSynonym "stomach carcinoma in situ" -MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 carcinoma of stomach" -MONDO:0004716 oboInOwl:hasExactSynonym "carcinoma of the stomach stage 0" -MONDO:0004716 oboInOwl:hasExactSynonym "gastric carcinoma stage 0" -MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 carcinoma of the stomach" -MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 stomach carcinoma" +MONDO:0004716 oboInOwl:hasExactSynonym "carcinoma of stomach stage 0" MONDO:0004716 oboInOwl:hasExactSynonym "carcinoma in situ of stomach" -MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 gastric carcinoma in situ" -MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 gastric (stomach) cancer" MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 gastric cancer aJCC v6" MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 gastric cancer" -MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 gastric cancer aJCC v7" -MONDO:0004716 oboInOwl:hasExactSynonym "gastric carcinoma in situ" +MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 gastric (stomach) cancer" +MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 gastric carcinoma in situ" +MONDO:0004716 oboInOwl:hasExactSynonym "gastric carcinoma stage 0" +MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 carcinoma of the stomach" +MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 carcinoma of stomach" +MONDO:0004716 oboInOwl:hasExactSynonym "stomach carcinoma in situ" +MONDO:0004716 oboInOwl:hasExactSynonym "gastric carcinoma, stage 0" +MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 gastric cancer aJCC v6 and v7" MONDO:0004716 oboInOwl:hasExactSynonym "stomach in situ carcinoma" +MONDO:0004716 oboInOwl:hasExactSynonym "gastric carcinoma in situ" +MONDO:0004716 oboInOwl:hasExactSynonym "carcinoma of the stomach stage 0" MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 gastric carcinoma" -MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 gastric cancer aJCC v6 and v7" -MONDO:0004716 oboInOwl:hasExactSynonym "carcinoma of stomach stage 0" -MONDO:0004716 oboInOwl:hasExactSynonym "stomach carcinoma stage 0" -MONDO:0004716 oboInOwl:hasExactSynonym "gastric carcinoma, stage 0" -MONDO:0020488 oboInOwl:hasExactSynonym "atypical PSP syndrome" +MONDO:0004716 oboInOwl:hasExactSynonym "stage 0 gastric cancer aJCC v7" GO:2000819 oboInOwl:hasExactSynonym "regulation of NER" GO:2000819 oboInOwl:hasExactSynonym "regulation of pyrimidine-dimer repair, DNA damage excision" MONDO:0007141 oboInOwl:hasExactSynonym "antiviral state repressor, regulator of" @@ -154887,11 +156710,13 @@ MONDO:0011365 oboInOwl:hasExactSynonym "SBBYSS" http://purl.obolibrary.org/obo/m MONDO:0011365 oboInOwl:hasExactSynonym "Ohdo syndrome, SBBYS variant" MONDO:0011365 oboInOwl:hasExactSynonym "blepharophimosis - intellectual disability syndrome, SBBYS type" MONDO:0011365 oboInOwl:hasExactSynonym "Say-Barber-Biesecker-Young-Simpson syndrome" +MONDO:0011365 oboInOwl:hasExactSynonym "SBBYSS syndrome" MONDO:0012311 oboInOwl:hasExactSynonym "spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness" MONDO:0011755 oboInOwl:hasExactSynonym "SLSN3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010985 oboInOwl:hasExactSynonym "FAME1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020724 oboInOwl:hasExactSynonym "familial cerebral cavernous malformation 1" MONDO:0020724 oboInOwl:hasExactSynonym "cerebral cavernous malformation 1" +MONDO:0020724 oboInOwl:hasExactSynonym "cerebral cavernous malformations-1" GO:1903579 oboInOwl:hasExactSynonym "down-regulation of ATP metabolic process" GO:1903579 oboInOwl:hasExactSynonym "downregulation of ATP metabolism" GO:1903579 oboInOwl:hasExactSynonym "down-regulation of ATP metabolism" @@ -154899,6 +156724,7 @@ GO:1903579 oboInOwl:hasExactSynonym "negative regulation of ATP metabolism" GO:1903579 oboInOwl:hasExactSynonym "down regulation of ATP metabolism" GO:1903579 oboInOwl:hasExactSynonym "downregulation of ATP metabolic process" GO:1903579 oboInOwl:hasExactSynonym "down regulation of ATP metabolic process" +MONDO:0011931 oboInOwl:hasExactSynonym "ovarian cancer, susceptibility to" MONDO:0011931 oboInOwl:hasExactSynonym "ovarian cancer, susceptibility to, 1" MONDO:0011931 oboInOwl:hasExactSynonym "OVCAS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0022737 oboInOwl:hasExactSynonym "choroideremia hypopituitarism" @@ -154958,6 +156784,7 @@ MONDO:0004308 oboInOwl:hasExactSynonym "meninges sarcoma" MONDO:0004308 oboInOwl:hasExactSynonym "meningeal sarcoma" MONDO:0004308 oboInOwl:hasExactSynonym "sarcoma of meninges" MONDO:0004308 oboInOwl:hasExactSynonym "sarcoma of meningeal cluster" +MONDO:0033534 oboInOwl:hasExactSynonym "combined oxidative phosphorylation defiency 46" MONDO:0015354 oboInOwl:hasExactSynonym "HSAN with deafness and global delay" MONDO:0017554 oboInOwl:hasExactSynonym "radio-ulnar fusion, unilateral" MONDO:0030535 oboInOwl:hasExactSynonym "EBS2D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -155040,6 +156867,7 @@ MONDO:0007376 oboInOwl:hasExactSynonym "Francois-Neetens speckled corneal dystro MONDO:0007376 oboInOwl:hasExactSynonym "FranC'ois-Neetens speckled corneal dystrophy" MONDO:0007376 oboInOwl:hasExactSynonym "FCD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007376 oboInOwl:hasExactSynonym "fleck corneal dystrophy" +MONDO:0007376 oboInOwl:hasExactSynonym "corneal fleck dystrophy" MONDO:0007376 oboInOwl:hasExactSynonym "François-Neetens speckled corneal dystrophy" MONDO:0000450 oboInOwl:hasExactSynonym "SPMS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000450 oboInOwl:hasExactSynonym "secondary-progressive MS" @@ -155092,8 +156920,8 @@ MONDO:0018473 oboInOwl:hasExactSynonym "dyslipidemia type 3" MONDO:0018473 oboInOwl:hasExactSynonym "familial dysbetalipoproteinemia" MONDO:0018473 oboInOwl:hasExactSynonym "hyperlipoproteinemia type III" MONDO:0018473 oboInOwl:hasExactSynonym "familial type 3 hyperlipoproteinemia" -MONDO:0018473 oboInOwl:hasExactSynonym "carbohydrate induced hyperlipemia" MONDO:0018473 oboInOwl:hasExactSynonym "remnant hyperlipidemia" +MONDO:0018473 oboInOwl:hasExactSynonym "carbohydrate induced hyperlipemia" MONDO:0018473 oboInOwl:hasExactSynonym "Broad-betalipoproteinemia" MONDO:0018473 oboInOwl:hasExactSynonym "remnant disease" MONDO:0018473 oboInOwl:hasExactSynonym "familial hyperlipoproteinemia type 3" @@ -155105,11 +156933,13 @@ MONDO:0005594 oboInOwl:hasExactSynonym "Scar" MONDO:0005594 oboInOwl:hasExactSynonym "SCAR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0005594 oboInOwl:hasExactSynonym "scarring" MONDO:0007794 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 7 with or without anosmia" +MONDO:0007794 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 7 without anosmia" MONDO:0006540 oboInOwl:hasExactSynonym "dyshidrosis" MONDO:0006540 oboInOwl:hasExactSynonym "vesicular eczema of hands and/or feet" MONDO:0006540 oboInOwl:hasExactSynonym "cheiropompholyx" MONDO:0006540 oboInOwl:hasExactSynonym "DYSHYDROTIC eczema" MONDO:0010588 oboInOwl:hasExactSynonym "exudative vitreoretinopathy caused by mutation in NDP" +MONDO:0010588 oboInOwl:hasExactSynonym "exudative vitreoretinopathy 2, X-linked, X-linked recessive, X-linked dominant" MONDO:0010588 oboInOwl:hasExactSynonym "exudative vitreoretinopathy 2, X-linked" MONDO:0010588 oboInOwl:hasExactSynonym "NDP exudative vitreoretinopathy" MONDO:0100452 oboInOwl:hasExactSynonym "dominant RPE65 retinopathy" @@ -155156,10 +156986,12 @@ PO:0009011 oboInOwl:hasExactSynonym "植物 構造 (Japanese, exact)" MONDO:0018544 oboInOwl:hasExactSynonym "adrenomyeloneuropathy, adult" MONDO:0018544 oboInOwl:hasExactSynonym "adrenoleukodystrophy" MONDO:0018544 oboInOwl:hasExactSynonym "diffuse sclerosis" +MONDO:0018544 oboInOwl:hasExactSynonym "adrenomyeloneuropathy, adult, X-linked recessive" MONDO:0018544 oboInOwl:hasExactSynonym "X-linked ALD" MONDO:0018544 oboInOwl:hasExactSynonym "adrenoleukodystrophy, X-linked" MONDO:0018544 oboInOwl:hasExactSynonym "ABCD1 deficiency" MONDO:0018544 oboInOwl:hasExactSynonym "encephalitis periaxialis concentrica" +MONDO:0018544 oboInOwl:hasExactSynonym "adrenoleukodystrophy, X-linked recessive" MONDO:0018544 oboInOwl:hasExactSynonym "Bronze-Schilder disease" MONDO:0018544 oboInOwl:hasExactSynonym "X-linked adrenoleukodystrophy" MONDO:0018544 oboInOwl:hasExactSynonym "diffuse cerebral sclerosis of Schilder" @@ -155215,6 +157047,7 @@ MONDO:0006739 oboInOwl:hasExactSynonym "Ehrlich's tumor" MONDO:0004465 oboInOwl:hasExactSynonym "periampullary adenocarcinoma" MONDO:0004465 oboInOwl:hasExactSynonym "periampullary cancer" MONDO:0004465 oboInOwl:hasExactSynonym "periampullary region of duodenum adenocarcinoma" +MONDO:0013696 oboInOwl:hasExactSynonym "schizophrenia, susceptibility to, 17" MONDO:0013696 oboInOwl:hasExactSynonym "chromosome 2P16.3 deletion syndrome" MONDO:0013349 oboInOwl:hasExactSynonym "carbohydrate deficient glycoprotein syndrome type Ip" MONDO:0013349 oboInOwl:hasExactSynonym "CDG1P" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -155273,6 +157106,7 @@ MONDO:0002842 oboInOwl:hasExactSynonym "Bacteria gastritis (disease)" MONDO:0002842 oboInOwl:hasExactSynonym "bacterial gastritis" MONDO:0012619 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 11" MONDO:0012619 oboInOwl:hasExactSynonym "MRT11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012619 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive, 11" MONDO:0007226 oboInOwl:hasExactSynonym "Biemond syndrome" CL:1000487 oboInOwl:hasExactSynonym "smooth muscle fiber of prostate" MONDO:0100115 oboInOwl:hasExactSynonym "AFM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -155327,6 +157161,7 @@ GO:0051173 oboInOwl:hasExactSynonym "up-regulation of nitrogen metabolic process GO:0051173 oboInOwl:hasExactSynonym "positive regulation of nitrogen metabolic process" GO:0051173 oboInOwl:hasExactSynonym "up regulation of nitrogen metabolic process" MONDO:0014265 oboInOwl:hasExactSynonym "Alzheimer's disease 18" +MONDO:0014265 oboInOwl:hasExactSynonym "Alzheimer disease 18, susceptibility to" MONDO:0014265 oboInOwl:hasExactSynonym "Alzheimer disease 18" MONDO:0014265 oboInOwl:hasExactSynonym "Alzheimer's disease type 18" MONDO:0014265 oboInOwl:hasExactSynonym "AD18" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -155416,7 +157251,9 @@ MONDO:0008831 oboInOwl:hasExactSynonym "asphyxiating thoracic dystrophy 1" MONDO:0008831 oboInOwl:hasExactSynonym "SRTD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008831 oboInOwl:hasExactSynonym "ATD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012808 oboInOwl:hasExactSynonym "dilated cardiomyopathy 1AA with or without left ventricular noncompaction" +MONDO:0012808 oboInOwl:hasExactSynonym "cardiomyopathy, dilated, 1AA, with or without LVNC" MONDO:0012808 oboInOwl:hasExactSynonym "dilated cardiomyopathy type 1AA" +MONDO:0012808 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 23, with or without LVNC" MONDO:0012808 oboInOwl:hasExactSynonym "CMD1AA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012808 oboInOwl:hasExactSynonym "familial isolated dilated cardiomyopathy caused by mutation in ACTN2" MONDO:0012808 oboInOwl:hasExactSynonym "ACTN2 familial isolated dilated cardiomyopathy" @@ -155486,6 +157323,7 @@ MONDO:0005047 oboInOwl:hasExactSynonym "fertility disorders" MONDO:0005047 oboInOwl:hasExactSynonym "sterility" MONDO:0011270 oboInOwl:hasExactSynonym "prostate cancer, hereditary, 8" MONDO:0011270 oboInOwl:hasExactSynonym "prostate cancer, hereditary, type 8" +MONDO:0011270 oboInOwl:hasExactSynonym "prostate cancer, susceptibility to" NCBITaxon:2697049 oboInOwl:hasExactSynonym "SARS2" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:2697049 oboInOwl:hasExactSynonym "Wuhan coronavirus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:2697049 oboInOwl:hasExactSynonym "HCoV-19" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name @@ -155547,6 +157385,7 @@ MONDO:0000956 oboInOwl:hasExactSynonym "malignant small intestine neoplasm" MONDO:0000956 oboInOwl:hasExactSynonym "malignant neoplasm of small bowel" MONDO:0016624 oboInOwl:hasExactSynonym "constitutional rare deficiency anemia" MONDO:0009005 oboInOwl:hasExactSynonym "complement component C1r/C1s deficiency" +MONDO:0015601 oboInOwl:hasExactSynonym "Van Esch-O'Driscoll syndrome, X-linked recessive" MONDO:0015601 oboInOwl:hasExactSynonym "mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0015601 oboInOwl:hasExactSynonym "VEODS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015601 oboInOwl:hasExactSynonym "Van Esch-O'Driscoll syndrome" @@ -155587,7 +157426,9 @@ MONDO:0013722 oboInOwl:hasExactSynonym "POLR3B leukodystrophy" MONDO:0013722 oboInOwl:hasExactSynonym "leukodystrophy caused by mutation in POLR3B" MONDO:0013722 oboInOwl:hasExactSynonym "HLD8" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015270 oboInOwl:hasExactSynonym "butyrylcholinesterase deficiency" +MONDO:0015270 oboInOwl:hasExactSynonym "apnea, postanesthetic, susceptibility to, due to BCHE deficiency" MONDO:0054637 oboInOwl:hasExactSynonym "Noonan syndrome-like disorder with loose anagen hair 1" +MONDO:0054637 oboInOwl:hasExactSynonym "Noonan syndrome-like with loose anagen hair 1" MONDO:0054637 oboInOwl:hasExactSynonym "NSLH1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003665 oboInOwl:hasExactSynonym "endometrioid adenocarcinoma of uterine cervix" MONDO:0003665 oboInOwl:hasExactSynonym "endometrioid carcinoma of the cervix uteri" @@ -155611,12 +157452,13 @@ MONDO:0003665 oboInOwl:hasExactSynonym "cervical endometrioid carcinoma" MONDO:0003665 oboInOwl:hasExactSynonym "cervix uteri endometrioid carcinoma" MONDO:0004184 oboInOwl:hasExactSynonym "disease or disorder of urethra" MONDO:0004184 oboInOwl:hasExactSynonym "urethra disease or disorder" -MONDO:0004184 oboInOwl:hasExactSynonym "disease of urethra" MONDO:0004184 oboInOwl:hasExactSynonym "urethra disease" +MONDO:0004184 oboInOwl:hasExactSynonym "disease of urethra" MONDO:0004184 oboInOwl:hasExactSynonym "urethra disorder" MONDO:0004184 oboInOwl:hasExactSynonym "disorder of urethra" MONDO:0011073 oboInOwl:hasExactSynonym "diabetes mellitus, transient neonatal, type 1" MONDO:0011073 oboInOwl:hasExactSynonym "diabetes mellitus, transient neonatal, 1" +MONDO:0011073 oboInOwl:hasExactSynonym "diabetes mellitus, transient neonatal 1" MONDO:0010784 oboInOwl:hasExactSynonym "chloramphenicol toxicity" MONDO:0006037 oboInOwl:hasExactSynonym "Salonen-Herva-Norio syndrome" MONDO:0002140 oboInOwl:hasExactSynonym "sarcoma of the vagina" @@ -155636,6 +157478,7 @@ MONDO:0000548 oboInOwl:hasExactSynonym "clear-cell ovarian carcinoma" MONDO:0000548 oboInOwl:hasExactSynonym "malignant ovarian clear cell tumor" MONDO:0000548 oboInOwl:hasExactSynonym "malignant ovarian clear cell neoplasm" MONDO:0010510 oboInOwl:hasExactSynonym "mental retardation, X-linked type 105" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010510 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 105, X-linked recessive" MONDO:0010510 oboInOwl:hasExactSynonym "mental retardation, X-linked 105" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010510 oboInOwl:hasExactSynonym "non-syndromic X-linked intellectual disability caused by mutation in USP27X" MONDO:0010510 oboInOwl:hasExactSynonym "USP27X non-syndromic X-linked intellectual disability" @@ -155678,12 +157521,13 @@ MONDO:0011951 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis caused by MONDO:0011951 oboInOwl:hasExactSynonym "FUS amyotrophic lateral sclerosis" MONDO:0011951 oboInOwl:hasExactSynonym "ALS6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011951 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" -MONDO:0044816 oboInOwl:hasExactSynonym "idiopathic familial dystonia" -MONDO:0044816 oboInOwl:hasExactSynonym "familial Idiopathic dystonia" -MONDO:0044816 oboInOwl:hasExactSynonym "hereditary idiopathic torsion dystonia" +MONDO:0010493 oboInOwl:hasExactSynonym "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessive" MONDO:0010493 oboInOwl:hasExactSynonym "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis" MONDO:0010493 oboInOwl:hasExactSynonym "TSR2 Diamond-Blackfan anemia" MONDO:0010493 oboInOwl:hasExactSynonym "Diamond-Blackfan anemia caused by mutation in TSR2" +MONDO:0044816 oboInOwl:hasExactSynonym "idiopathic familial dystonia" +MONDO:0044816 oboInOwl:hasExactSynonym "familial Idiopathic dystonia" +MONDO:0044816 oboInOwl:hasExactSynonym "hereditary idiopathic torsion dystonia" MONDO:0024455 oboInOwl:hasExactSynonym "autosomal dominant Robinow syndrome caused by mutation in WNT5A" MONDO:0024455 oboInOwl:hasExactSynonym "DRS1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024455 oboInOwl:hasExactSynonym "dysostosis acral with facial and genital abnormalities" @@ -155696,6 +157540,7 @@ MONDO:0008082 oboInOwl:hasExactSynonym "multiple endocrine adenomatosis type IIB MONDO:0008082 oboInOwl:hasExactSynonym "multiple endocrine neoplasia type 3" MONDO:0008082 oboInOwl:hasExactSynonym "MEN2B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008082 oboInOwl:hasExactSynonym "men type 2B" +MONDO:0008082 oboInOwl:hasExactSynonym "multiple endocrine neoplasia IIB" MONDO:0008082 oboInOwl:hasExactSynonym "multiple endocrine neoplasia type 2B" MONDO:0008082 oboInOwl:hasExactSynonym "men IIB" MONDO:0008082 oboInOwl:hasExactSynonym "multiple endocrine neoplasia, type III" @@ -155709,6 +157554,7 @@ MONDO:0007281 oboInOwl:hasExactSynonym "CRYGD cataract (disease)" MONDO:0007281 oboInOwl:hasExactSynonym "cataract 4 multiple types with or without microcornea" MONDO:0007281 oboInOwl:hasExactSynonym "CTRCT4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007281 oboInOwl:hasExactSynonym "cataract (disease) caused by mutation in CRYGD" +MONDO:0010680 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome, classic-like, 1" MONDO:0010680 oboInOwl:hasExactSynonym "muscular dystrophy, tardive, Dreifuss-Emery type, with contractures" MONDO:0010680 oboInOwl:hasExactSynonym "EMD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010680 oboInOwl:hasExactSynonym "X-linked Emery-Dreifuss muscular dystrophy" @@ -155722,6 +157568,7 @@ MONDO:0024642 oboInOwl:hasExactSynonym "gastric NET G2" MONDO:0024642 oboInOwl:hasExactSynonym "gastric neuroendocrine tumor G2" MONDO:0012533 oboInOwl:hasExactSynonym "autism, susceptibility to, 7" MONDO:0012533 oboInOwl:hasExactSynonym "AUTS7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012533 oboInOwl:hasExactSynonym "autism susceptibility 7" MONDO:0007844 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism caused by mutation in FGFR1" MONDO:0007844 oboInOwl:hasExactSynonym "FGFR1 hypogonadotropic hypogonadism" MONDO:0007844 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 2 with or without anosmia" @@ -155733,8 +157580,8 @@ HP:0000618 oboInOwl:hasExactSynonym "Blindness" http://purl.obolibrary.org/obo/h MONDO:0008228 oboInOwl:hasExactSynonym "Addison anaemia" MONDO:0008228 oboInOwl:hasExactSynonym "Biermer disease" MONDO:0008228 oboInOwl:hasExactSynonym "Addison's anaemia" -MONDO:0008228 oboInOwl:hasExactSynonym "pernicious anemia" MONDO:0008228 oboInOwl:hasExactSynonym "anemia pernicious" +MONDO:0008228 oboInOwl:hasExactSynonym "pernicious anemia" MONDO:0008228 oboInOwl:hasExactSynonym "Biermer anemia" MONDO:0008228 oboInOwl:hasExactSynonym "intrinsic factor deficiency" MONDO:0008228 oboInOwl:hasExactSynonym "juvenile onset pernicious anemia" @@ -155797,6 +157644,7 @@ MONDO:0009669 oboInOwl:hasExactSynonym "SMA-I" MONDO:0009669 oboInOwl:hasExactSynonym "SMA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009669 oboInOwl:hasExactSynonym "severe infantile spinal muscular atrophy" MONDO:0009669 oboInOwl:hasExactSynonym "survival motor neuron spinal muscular atrophy" +MONDO:0009669 oboInOwl:hasExactSynonym "spinal muscular atrophy-1" MONDO:0009669 oboInOwl:hasExactSynonym "infantile spinal muscular atrophy" MONDO:0009669 oboInOwl:hasExactSynonym "SMA type I" MONDO:0012078 oboInOwl:hasExactSynonym "Joubert syndrome caused by mutation in AHI1" @@ -155804,6 +157652,7 @@ MONDO:0012078 oboInOwl:hasExactSynonym "JBTS3" http://purl.obolibrary.org/obo/mo MONDO:0012078 oboInOwl:hasExactSynonym "Joubert syndrome type 3" MONDO:0012078 oboInOwl:hasExactSynonym "AHI1 Joubert syndrome" MONDO:0012078 oboInOwl:hasExactSynonym "Joubert syndrome 3" +MONDO:0013265 oboInOwl:hasExactSynonym "autism susceptibility 17" MONDO:0013265 oboInOwl:hasExactSynonym "autism, susceptibility to, type 17" MONDO:0013265 oboInOwl:hasExactSynonym "autism, susceptibility to, 17" MONDO:0013441 oboInOwl:hasExactSynonym "asphyxiating thoracic dystrophy type 4" @@ -155815,6 +157664,7 @@ HP:0000113 oboInOwl:hasExactSynonym "Polycystic kidneys" HP:0000113 oboInOwl:hasExactSynonym "Enlarged polycystic kidneys" MONDO:0013020 oboInOwl:hasExactSynonym "narcolepsy 5, susceptibility to" MONDO:0013020 oboInOwl:hasExactSynonym "NRCLP5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013020 oboInOwl:hasExactSynonym "narcolepsy 5" ENVO:01000242 oboInOwl:hasExactSynonym "desert scrub" MONDO:0018608 oboInOwl:hasExactSynonym "idiopathic orthostatic hypotension" MONDO:0018608 oboInOwl:hasExactSynonym "Pure idiopatic dysautonomia" @@ -155845,6 +157695,7 @@ MONDO:0012125 oboInOwl:hasExactSynonym "leukodystrophy, hypomyelinating, type 2" MONDO:0012125 oboInOwl:hasExactSynonym "leukodystrophy caused by mutation in GJC2" MONDO:0012125 oboInOwl:hasExactSynonym "Pelizaeus-Merzbacher-like disease 1" MONDO:0012125 oboInOwl:hasExactSynonym "PMLD1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0054802 oboInOwl:hasExactSynonym "erythrocytosis 7" MONDO:0023171 oboInOwl:hasExactSynonym "foix chavany Marie syndrome" MONDO:0014882 oboInOwl:hasExactSynonym "hereditary spastic paraplegia caused by mutation in FARS2" MONDO:0014882 oboInOwl:hasExactSynonym "spastic paraplegia 77, autosomal recessive" @@ -155884,6 +157735,7 @@ MONDO:0021022 oboInOwl:hasExactSynonym "hereditary hyperexplexia" MONDO:0021022 oboInOwl:hasExactSynonym "hereditary hyperekplexia" MONDO:0021022 oboInOwl:hasExactSynonym "startle disease" MONDO:0013527 oboInOwl:hasExactSynonym "NDE1 lissencephaly (disease)" +MONDO:0013527 oboInOwl:hasExactSynonym "lissencephaly 4 (with microcephaly)" MONDO:0013527 oboInOwl:hasExactSynonym "lissencephaly (disease) caused by mutation in NDE1" MONDO:0013527 oboInOwl:hasExactSynonym "lissencephaly 4" MONDO:0013527 oboInOwl:hasExactSynonym "lissencephaly type 4" @@ -155969,6 +157821,7 @@ MONDO:0014170 oboInOwl:hasExactSynonym "KIF2A complex cortical dysplasia with ot MONDO:0014170 oboInOwl:hasExactSynonym "CDCBM3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014170 oboInOwl:hasExactSynonym "cortical dysplasia, Complex, with Other brain malformations type 3" MONDO:0014170 oboInOwl:hasExactSynonym "complex cortical dysplasia with other brain malformations type 3" +MONDO:0044315 oboInOwl:hasExactSynonym "craniosynostosis 7, susceptibility to" MONDO:0044315 oboInOwl:hasExactSynonym "craniosynostosis 7" NCBITaxon:8782 oboInOwl:hasExactSynonym "birds" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name ENVO:09000018 oboInOwl:hasExactSynonym "water nitrogen atom concentration" @@ -156000,8 +157853,8 @@ MONDO:0020725 oboInOwl:hasExactSynonym "anemia of chronic disease" MONDO:0020725 oboInOwl:hasExactSynonym "anemia of chronic illness" MONDO:0020725 oboInOwl:hasExactSynonym "anemia of chronic inflammation" MONDO:0020725 oboInOwl:hasExactSynonym "anemia due to chronic disorder" -MONDO:0700128 oboInOwl:hasExactSynonym "Robertsonian Translocation Trisomy 21" HP:0001450 oboInOwl:hasExactSynonym "Y-linked" +MONDO:0700128 oboInOwl:hasExactSynonym "Robertsonian Translocation Trisomy 21" MONDO:0044986 oboInOwl:hasExactSynonym "disease of lymphoid system" MONDO:0044986 oboInOwl:hasExactSynonym "disease or disorder of lymphoid system" MONDO:0044986 oboInOwl:hasExactSynonym "disorder of lymphoid system" @@ -156056,6 +157909,7 @@ NCBITaxon:39054 oboInOwl:hasExactSynonym "Human enterovirus A71" http://purl.obo NCBITaxon:39054 oboInOwl:hasExactSynonym "Human enterovirus 71" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name GO:1903510 oboInOwl:hasExactSynonym "mucopolysaccharide metabolism" MONDO:0012901 oboInOwl:hasExactSynonym "hereditary prekallikrein deficiency" +MONDO:0012901 oboInOwl:hasExactSynonym "fletcher factor (prekallikrein) deficiency" MONDO:0012901 oboInOwl:hasExactSynonym "congenital prekallikrein deficiency" MONDO:0011075 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation in PRPF3" MONDO:0011075 oboInOwl:hasExactSynonym "retinitis pigmentosa 18" @@ -156063,8 +157917,8 @@ MONDO:0011075 oboInOwl:hasExactSynonym "PRPF3 retinitis pigmentosa" MONDO:0011075 oboInOwl:hasExactSynonym "RP18" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011075 oboInOwl:hasExactSynonym "retinitis pigmentosa type 18" MONDO:0016796 oboInOwl:hasExactSynonym "mtDNA depletion syndrome, encephalomyopathic form" -MONDO:0014517 oboInOwl:hasExactSynonym "generalized epilepsy with febrile seizures plus caused by mutation in STX1B" MONDO:0014517 oboInOwl:hasExactSynonym "STX1b generalized epilepsy with febrile seizures plus" +MONDO:0014517 oboInOwl:hasExactSynonym "generalized epilepsy with febrile seizures plus caused by mutation in STX1B" MONDO:0014517 oboInOwl:hasExactSynonym "generalized epilepsy with febrile seizures plus caused by mutation in STX1b" MONDO:0014517 oboInOwl:hasExactSynonym "STX1B generalized epilepsy with febrile seizures plus" MONDO:0014517 oboInOwl:hasExactSynonym "generalized epilepsy with febrile seizures plus, type 9" @@ -156080,16 +157934,16 @@ MONDO:0019618 oboInOwl:hasExactSynonym "Sheehan's syndrome" MONDO:0019618 oboInOwl:hasExactSynonym "postpartum hypopituitarism" GO:2001252 oboInOwl:hasExactSynonym "positive regulation of chromosome organisation" MONDO:0011262 oboInOwl:hasExactSynonym "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye" -MONDO:0002396 oboInOwl:hasExactSynonym "metanephric adenofibroma" MONDO:0008281 oboInOwl:hasExactSynonym "polyposis, intestinal, scattered and discrete" +MONDO:0002396 oboInOwl:hasExactSynonym "metanephric adenofibroma" HP:0000777 oboInOwl:hasExactSynonym "Abnormality of the thymus" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0004719 oboInOwl:hasExactSynonym "malignant neoplasm of the hard palate" MONDO:0004719 oboInOwl:hasExactSynonym "cancer of hard palate" MONDO:0004719 oboInOwl:hasExactSynonym "malignant hard palate tumor" MONDO:0004719 oboInOwl:hasExactSynonym "hard palate cancer" MONDO:0004719 oboInOwl:hasExactSynonym "malignant hard palate neoplasm" -MONDO:0004719 oboInOwl:hasExactSynonym "malignant tumour of hard palate" MONDO:0004719 oboInOwl:hasExactSynonym "malignant neoplasm of hard palate" +MONDO:0004719 oboInOwl:hasExactSynonym "malignant tumour of hard palate" MONDO:0004719 oboInOwl:hasExactSynonym "malignant tumor of the hard palate" MONDO:0004719 oboInOwl:hasExactSynonym "malignant tumor of hard palate" MONDO:0004719 oboInOwl:hasExactSynonym "hard palate" @@ -156131,12 +157985,14 @@ MONDO:0021499 oboInOwl:hasExactSynonym "neoplasms, benign, cerebellar" MONDO:0021499 oboInOwl:hasExactSynonym "cerebellum benign neoplasm" MONDO:0021499 oboInOwl:hasExactSynonym "neoplasms, cerebellar, benign" MONDO:0021499 oboInOwl:hasExactSynonym "benign cerebellar tumor" -MONDO:0021499 oboInOwl:hasExactSynonym "cerebellar neoplasms, benign" MONDO:0021499 oboInOwl:hasExactSynonym "benign neoplasm of the cerebellum" +MONDO:0021499 oboInOwl:hasExactSynonym "cerebellar neoplasms, benign" MONDO:0021499 oboInOwl:hasExactSynonym "benign tumor of cerebellum" MONDO:0021499 oboInOwl:hasExactSynonym "benign cerebellar neoplasms" MONDO:0021499 oboInOwl:hasExactSynonym "benign cerebellar neoplasm" +MONDO:0010589 oboInOwl:hasExactSynonym "Aarskog-Scott syndrome, X-linked recessive" MONDO:0010589 oboInOwl:hasExactSynonym "Aarskog syndrome, X-linked" +MONDO:0010589 oboInOwl:hasExactSynonym "mental retardation, X-linked syndromic 16, X-linked recessive" MONDO:0010589 oboInOwl:hasExactSynonym "Aarskog-Scott syndrome, X-linked" MONDO:0020011 oboInOwl:hasExactSynonym "rare headache disorder" MONDO:0020011 oboInOwl:hasExactSynonym "rare headache" @@ -156193,11 +158049,12 @@ MONDO:0044317 oboInOwl:hasExactSynonym "premature ovarian failure 13" MONDO:0014109 oboInOwl:hasExactSynonym "NGLY1-deficiency" MONDO:0014109 oboInOwl:hasExactSynonym "congenital disorder of glycosylation type IV" MONDO:0014109 oboInOwl:hasExactSynonym "congenital disorder of deglycosylation" +MONDO:0014109 oboInOwl:hasExactSynonym "congenital disorder of deglycosylation 1" MONDO:0014109 oboInOwl:hasExactSynonym "NGLY1-CDDG" MONDO:0014109 oboInOwl:hasExactSynonym "deficiency of N-glycanase 1" MONDO:0014109 oboInOwl:hasExactSynonym "NGLY1 deficiency" -MONDO:0010133 oboInOwl:hasExactSynonym "thyroid hormonogenesis, genetic defect in, 2A" MONDO:0010133 oboInOwl:hasExactSynonym "TDH2A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010133 oboInOwl:hasExactSynonym "thyroid hormonogenesis, genetic defect in, 2A" MONDO:0010133 oboInOwl:hasExactSynonym "TPO familial thyroid dyshormonogenesis" MONDO:0010133 oboInOwl:hasExactSynonym "hypothyroidism, congenital, due to dyshormonogenesis, 2A" MONDO:0010133 oboInOwl:hasExactSynonym "familial thyroid dyshormonogenesis caused by mutation in TPO" @@ -156258,11 +158115,11 @@ MONDO:0021181 oboInOwl:hasExactSynonym "coagulation disorder, inherited" MONDO:0021181 oboInOwl:hasExactSynonym "hereditary coagulation disorders" MONDO:0021181 oboInOwl:hasExactSynonym "rare genetic coagulation disorder" MONDO:0021181 oboInOwl:hasExactSynonym "coagulation disorder, hereditary" +PO:0009012 oboInOwl:hasExactSynonym "etapa de desarrollo de estructura vegetal (Spanish, exact)" +PO:0009012 oboInOwl:hasExactSynonym "plant growth and development stage (exact)" MONDO:0004583 oboInOwl:hasExactSynonym "transient arterial retinal occlusion" MONDO:0004583 oboInOwl:hasExactSynonym "transient retinal arterial occlusion" MONDO:0004583 oboInOwl:hasExactSynonym "retinal transient arterial occlusion" -PO:0009012 oboInOwl:hasExactSynonym "etapa de desarrollo de estructura vegetal (Spanish, exact)" -PO:0009012 oboInOwl:hasExactSynonym "plant growth and development stage (exact)" MONDO:0019892 oboInOwl:hasExactSynonym "distal monosomy type 7p" MONDO:0019892 oboInOwl:hasExactSynonym "monosomy 7pter" MONDO:0019892 oboInOwl:hasExactSynonym "distal deletion 7p" @@ -156270,9 +158127,12 @@ MONDO:0019892 oboInOwl:hasExactSynonym "telomeric deletion 7p" MONDO:0003386 oboInOwl:hasExactSynonym "bladder clear cell adenocarcinoma" MONDO:0003386 oboInOwl:hasExactSynonym "bladder mesonephric adenocarcinoma" MONDO:0003386 oboInOwl:hasExactSynonym "urinary bladder clear cell adenocarcinoma" +MONDO:0012338 oboInOwl:hasExactSynonym "epilepsy, idiopathic generalized, susceptibility to 4" MONDO:0012338 oboInOwl:hasExactSynonym "epilepsy, idiopathic generalized, susceptibility to, 4" MONDO:0012338 oboInOwl:hasExactSynonym "EIG4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012338 oboInOwl:hasExactSynonym "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10" +MONDO:0010940 oboInOwl:hasExactSynonym "asthma, nocturnal, susceptibility to" +MONDO:0010940 oboInOwl:hasExactSynonym "asthma, diminished response to antileukotriene treatment in" MONDO:0020192 oboInOwl:hasExactSynonym "rare lacrimal apparatus disease" MONDO:0014519 oboInOwl:hasExactSynonym "chronic mountain sickness, susceptibility to" MONDO:0003223 oboInOwl:hasExactSynonym "meninges hemangiopericytoma" @@ -156320,17 +158180,17 @@ MONDO:0044138 oboInOwl:hasExactSynonym "hyaloiditis" MONDO:0044138 oboInOwl:hasExactSynonym "Vitritis" MONDO:0044138 oboInOwl:hasExactSynonym "Vitreitis" MONDO:0044138 oboInOwl:hasExactSynonym "hyalitis" -MONDO:0003620 oboInOwl:hasExactSynonym "disorder of the peripheral nervous system" -MONDO:0003620 oboInOwl:hasExactSynonym "peripheral nervous system disorder" -MONDO:0003620 oboInOwl:hasExactSynonym "disease or disorder of peripheral nervous system" +MONDO:0003620 oboInOwl:hasExactSynonym "disorder of peripheral nervous system" MONDO:0003620 oboInOwl:hasExactSynonym "disease of peripheral nervous system" +MONDO:0003620 oboInOwl:hasExactSynonym "PNS disease" MONDO:0003620 oboInOwl:hasExactSynonym "peripheral nervous system disease or disorder" -MONDO:0003620 oboInOwl:hasExactSynonym "peripheral nervous system disorders" +MONDO:0003620 oboInOwl:hasExactSynonym "peripheral nervous system disease" MONDO:0003620 oboInOwl:hasExactSynonym "PNS (peripheral nervous system) diseases" -MONDO:0003620 oboInOwl:hasExactSynonym "PNS disease" -MONDO:0003620 oboInOwl:hasExactSynonym "disorder of peripheral nervous system" +MONDO:0003620 oboInOwl:hasExactSynonym "disease or disorder of peripheral nervous system" +MONDO:0003620 oboInOwl:hasExactSynonym "peripheral nervous system disorder" +MONDO:0003620 oboInOwl:hasExactSynonym "disorder of the peripheral nervous system" +MONDO:0003620 oboInOwl:hasExactSynonym "peripheral nervous system disorders" MONDO:0003620 oboInOwl:hasExactSynonym "PNS diseases" -MONDO:0003620 oboInOwl:hasExactSynonym "peripheral nervous system disease" MONDO:0003708 oboInOwl:hasExactSynonym "extrahepatic bile duct small cell neuroendocrine carcinoma" MONDO:0003708 oboInOwl:hasExactSynonym "small cell extrahepatic bile duct neuroendocrine carcinoma" MONDO:0003708 oboInOwl:hasExactSynonym "Oat cell extrahepatic bile duct carcinoma" @@ -156351,6 +158211,7 @@ MONDO:0019313 oboInOwl:hasExactSynonym "lymphedema, hereditary" GO:0051174 oboInOwl:hasExactSynonym "regulation of phosphorus metabolism" MONDO:0014266 oboInOwl:hasExactSynonym "C9 age-related macular degeneration" MONDO:0014266 oboInOwl:hasExactSynonym "age-related macular degeneration caused by mutation in C9" +MONDO:0014266 oboInOwl:hasExactSynonym "macular degeneration, age-related, 15, susceptibility to" MONDO:0014266 oboInOwl:hasExactSynonym "macular Degeneration, age-related, type 15" MONDO:0014266 oboInOwl:hasExactSynonym "ARMD15" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014266 oboInOwl:hasExactSynonym "age related macular degeneration type 15" @@ -156440,6 +158301,7 @@ HP:0000979 oboInOwl:hasExactSynonym "Red or purple spots on the skin" http://pur MONDO:0008832 oboInOwl:hasExactSynonym "right atrial isomerism" MONDO:0008832 oboInOwl:hasExactSynonym "Ivemark syndrome" MONDO:0008832 oboInOwl:hasExactSynonym "asplenia with cardiovascular anomalies" +MONDO:0008832 oboInOwl:hasExactSynonym "right atrial isomerism (ivemark)" MONDO:0008832 oboInOwl:hasExactSynonym "right atrial isomerism (disease)" HP:0002150 oboInOwl:hasExactSynonym "Hypercalcinuria" HP:0002150 oboInOwl:hasExactSynonym "Elevated urine calcium levels" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -156464,8 +158326,8 @@ MONDO:0002435 oboInOwl:hasExactSynonym "oculomotor nerve neoplasm (disease)" MONDO:0002435 oboInOwl:hasExactSynonym "IIIrd cranial nerve tumor" MONDO:0001044 oboInOwl:hasExactSynonym "esophageal atresia" MONDO:0001044 oboInOwl:hasExactSynonym "congenital esophageal atresia" -MONDO:0001044 oboInOwl:hasExactSynonym "oesophageal atresia" MONDO:0001044 oboInOwl:hasExactSynonym "congenital imperforate esophagus" +MONDO:0001044 oboInOwl:hasExactSynonym "oesophageal atresia" MONDO:0001044 oboInOwl:hasExactSynonym "esophageal atresia (disease)" MONDO:0001044 oboInOwl:hasExactSynonym "congenital atresia of esophagus" MONDO:0001044 oboInOwl:hasExactSynonym "imperforate esophagus" @@ -156531,9 +158393,9 @@ MONDO:0005165 oboInOwl:hasExactSynonym "benign neoplasm (disease)" MONDO:0005165 oboInOwl:hasExactSynonym "neoplasm (disease), benign" MONDO:0017931 oboInOwl:hasExactSynonym "HIBM4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008949 oboInOwl:hasExactSynonym "cerebral malformation, seizures, hypertrichosis, and overlapping fingers" -GO:0006732 oboInOwl:hasExactSynonym "coenzyme metabolism" MONDO:0020224 oboInOwl:hasExactSynonym "rare cataract (disease)" MONDO:0020224 oboInOwl:hasExactSynonym "rare cataract" +GO:0006732 oboInOwl:hasExactSynonym "coenzyme metabolism" MONDO:0006905 oboInOwl:hasExactSynonym "spindle cell Nevus of Reed" MONDO:0013558 oboInOwl:hasExactSynonym "Hermansky-Pudlak syndrome 6" MONDO:0013558 oboInOwl:hasExactSynonym "HPS6 Hermansky-Pudlak syndrome" @@ -156542,9 +158404,11 @@ MONDO:0013558 oboInOwl:hasExactSynonym "Hermansky-Pudlak syndrome caused by muta MONDO:0012809 oboInOwl:hasExactSynonym "angiomatoid fibrous histiocytoma" MONDO:0012809 oboInOwl:hasExactSynonym "AFH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012809 oboInOwl:hasExactSynonym "histiocytoma, Angiomatoid fibrous" +MONDO:0012809 oboInOwl:hasExactSynonym "histiocytoma, angiomatoid fibrous, somatic" MONDO:0012809 oboInOwl:hasExactSynonym "angiomatoid malignant fibrous histiocytoma" MONDO:0100069 oboInOwl:hasExactSynonym "hearing impairment and infertile male syndrome" MONDO:0100069 oboInOwl:hasExactSynonym "HIIMS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013944 oboInOwl:hasExactSynonym "autoinflammation, antibody deficiency, and immune dysregulation syndrome" MONDO:0013944 oboInOwl:hasExactSynonym "APLAID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION ECTO:9000021 oboInOwl:hasExactSynonym "exposure to alkali metal salt" MONDO:0005048 oboInOwl:hasExactSynonym "Beta cell tumor of the pancreas" @@ -156615,6 +158479,7 @@ MONDO:0040753 oboInOwl:hasExactSynonym "tuberculosis infection latent" MONDO:0040753 oboInOwl:hasExactSynonym "inactive TB" MONDO:0000957 oboInOwl:hasExactSynonym "granuloma of lacrimal passages" MONDO:0011271 oboInOwl:hasExactSynonym "rigid spine syndrome" +MONDO:0011271 oboInOwl:hasExactSynonym "muscular dystrophy, rigid spine, 1" MONDO:0011271 oboInOwl:hasExactSynonym "classic multiminicore disease" MONDO:0011271 oboInOwl:hasExactSynonym "severe classic form multicore myopathy" MONDO:0011271 oboInOwl:hasExactSynonym "desmin-related myopathy with Mallory bodies" @@ -156657,6 +158522,7 @@ MONDO:0012087 oboInOwl:hasExactSynonym "CILD4" http://purl.obolibrary.org/obo/mo HP:0000769 oboInOwl:hasExactSynonym "Abnormality of the breast" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0013450 oboInOwl:hasExactSynonym "congenital stationary night blindness 1D" MONDO:0013450 oboInOwl:hasExactSynonym "congenital stationary night blindness caused by mutation in SLC24A1" +MONDO:0013450 oboInOwl:hasExactSynonym "night blindness, congenital stationary (complete), 1D, autosomal recessive" MONDO:0013450 oboInOwl:hasExactSynonym "CSNB1D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013450 oboInOwl:hasExactSynonym "SLC24A1 congenital stationary night blindness" MONDO:0013450 oboInOwl:hasExactSynonym "congenital stationary night blindness type 1D" @@ -156722,6 +158588,7 @@ MONDO:0013946 oboInOwl:hasExactSynonym "HS6ST1 hypogonadotropic hypogonadism" MONDO:0013946 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 15 with or without anosmia" MONDO:0021727 oboInOwl:hasExactSynonym "congenital malposition of subclavian artery" MONDO:0021727 oboInOwl:hasExactSynonym "aberrant subclavian artery" +MONDO:0013723 oboInOwl:hasExactSynonym "bacteremia, protection against" MONDO:0013723 oboInOwl:hasExactSynonym "bacteremia, susceptibility to, type 1" MONDO:0013723 oboInOwl:hasExactSynonym "bacteremia, susceptibility caused by mutation in TIRAP" MONDO:0013723 oboInOwl:hasExactSynonym "bacteremia, susceptibility to, 1" @@ -156742,6 +158609,7 @@ MONDO:0024456 oboInOwl:hasExactSynonym "IRID1" http://purl.obolibrary.org/obo/mo MONDO:0024456 oboInOwl:hasExactSynonym "IGDA syndrome" MONDO:0024456 oboInOwl:hasExactSynonym "FOXC1 iridogoniodysgenesis" MONDO:0024456 oboInOwl:hasExactSynonym "iridogoniodysgenesis type 1" +MONDO:0024456 oboInOwl:hasExactSynonym "anterior segment dysgenesis 3, multiple subtypes" MONDO:0024456 oboInOwl:hasExactSynonym "ASGD3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024456 oboInOwl:hasExactSynonym "IGDA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024456 oboInOwl:hasExactSynonym "iridogoniodysgenesis caused by mutation in FOXC1" @@ -156773,6 +158641,7 @@ MONDO:0008083 oboInOwl:hasExactSynonym "autosomal dominant neuronal ceroid lipof MONDO:0008083 oboInOwl:hasExactSynonym "neuronal ceroid lipofuscinosis type 4B" MONDO:0008083 oboInOwl:hasExactSynonym "neuronal ceroid lipofuscinosis 4B" MONDO:0008083 oboInOwl:hasExactSynonym "ceroid lipofuscinosis, neuronal, 4 (Kufs type)" +MONDO:0008083 oboInOwl:hasExactSynonym "ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant" MONDO:0008083 oboInOwl:hasExactSynonym "CLN4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008083 oboInOwl:hasExactSynonym "neuronal ceroid lipofuscinosis, parry type" MONDO:0008083 oboInOwl:hasExactSynonym "neuronal ceroid lipofuscinosis 4 parry type" @@ -156791,6 +158660,7 @@ MONDO:0009414 oboInOwl:hasExactSynonym "glycogen storage disease due to hepatic MONDO:0006771 oboInOwl:hasExactSynonym "inflammation of tongue" MONDO:0006771 oboInOwl:hasExactSynonym "tongue inflammation" MONDO:0013077 oboInOwl:hasExactSynonym "Santos syndrome" +MONDO:0010511 oboInOwl:hasExactSynonym "congenital bilateral absence of vas deferens, X-linked" MONDO:0010511 oboInOwl:hasExactSynonym "vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX" MONDO:0010511 oboInOwl:hasExactSynonym "CBAVDX" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010511 oboInOwl:hasExactSynonym "vas deferens, congenital bilateral aplasia of, X-linked" @@ -156833,6 +158703,7 @@ MONDO:0010494 oboInOwl:hasExactSynonym "linear skin defects with multiple congen MONDO:0010494 oboInOwl:hasExactSynonym "microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11" MONDO:0010494 oboInOwl:hasExactSynonym "linear skin defects with multiple congenital anomalies type 3" MONDO:0010494 oboInOwl:hasExactSynonym "NDUFB11 microphthalmia with linear skin defects syndrome" +MONDO:0010494 oboInOwl:hasExactSynonym "linear skin defects with multiple congenital anomalies 3, X-linked dominant" MONDO:0700057 oboInOwl:hasExactSynonym "neurological pain disease" MONDO:0700057 oboInOwl:hasExactSynonym "neurologic pain syndrome" MONDO:0001129 oboInOwl:hasExactSynonym "olfactory neuroblastoma of nasal cavity" @@ -156845,6 +158716,7 @@ MONDO:0006404 oboInOwl:hasExactSynonym "large cell undifferentiated salivary gla MONDO:0006404 oboInOwl:hasExactSynonym "saliva-secreting gland large cell carcinoma" MONDO:0006404 oboInOwl:hasExactSynonym "salivary gland large cell carcinoma" MONDO:0006404 oboInOwl:hasExactSynonym "large cell salivary gland carcinoma" +MONDO:0029144 oboInOwl:hasExactSynonym "extraoral halitosis due to MTO deficiency" MONDO:0043240 oboInOwl:hasExactSynonym "hemophilic arthritis" MONDO:0043240 oboInOwl:hasExactSynonym "hemophilic arthropathy" MONDO:0012673 oboInOwl:hasExactSynonym "colorectal cancer, susceptibility to, 2" @@ -156856,6 +158728,7 @@ ENVO:01001002 oboInOwl:hasExactSynonym "Metazoan-associated environment" MONDO:0030066 oboInOwl:hasExactSynonym "granulomatous disease, chronic, autosomal recessive, 5" MONDO:0030066 oboInOwl:hasExactSynonym "Granulomatous Disease, Chronic, Due to Cybc1 Deficiency" MONDO:0030066 oboInOwl:hasExactSynonym "CGD5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0030066 oboInOwl:hasExactSynonym "chronic granulomatous disease 5, autosomal recessive" MONDO:0030066 oboInOwl:hasExactSynonym "GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5" CL:0001201 oboInOwl:hasExactSynonym "B-cell, CD19-positive" CL:0001201 oboInOwl:hasExactSynonym "B lymphocyte, CD19-positive" @@ -156875,21 +158748,23 @@ MONDO:0009006 oboInOwl:hasExactSynonym "C2 complement deficiency" MONDO:0009006 oboInOwl:hasExactSynonym "complement component 2 deficiency" CL:0002434 oboInOwl:hasExactSynonym "T.8SP24int.Th" CL:0002434 oboInOwl:hasExactSynonym "CD24-positive, CD8 single-positive semimature thymocyte" -MONDO:0030935 oboInOwl:hasExactSynonym "mitochondrial complex 2 deficiency, nuclear type 2" +MONDO:0030935 oboInOwl:hasExactSynonym "mitochondrial complex II deficiency, nuclear type 2" MONDO:0030935 oboInOwl:hasExactSynonym "MC2DN2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0030935 oboInOwl:hasExactSynonym "mitochondrial complex 2 deficiency, nuclear type 2" MONDO:0008290 oboInOwl:hasExactSynonym "POROK1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0035773 oboInOwl:hasExactSynonym "insulin secretion involved in cellular response to glucose" MONDO:0010103 oboInOwl:hasExactSynonym "teeth, fused" MONDO:0011661 oboInOwl:hasExactSynonym "IBD5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011661 oboInOwl:hasExactSynonym "inflammatory bowel disease 5" MONDO:0011661 oboInOwl:hasExactSynonym "inflammatory bowel disease type 5" -MONDO:0012948 oboInOwl:hasExactSynonym "6p25 microdeletion syndrome" +MONDO:0012948 oboInOwl:hasExactSynonym "distal deletion 6p" +MONDO:0012948 oboInOwl:hasExactSynonym "chromosome 6pter-p24 deletion syndrome" MONDO:0012948 oboInOwl:hasExactSynonym "6p subtelomeric deletion syndrome" +MONDO:0012948 oboInOwl:hasExactSynonym "6p25 microdeletion syndrome" +MONDO:0012948 oboInOwl:hasExactSynonym "chromosome 6pter-p24 deletion syndrome, isolated cases" MONDO:0012948 oboInOwl:hasExactSynonym "distal monosomy type 6p" -MONDO:0012948 oboInOwl:hasExactSynonym "distal deletion 6p" MONDO:0012948 oboInOwl:hasExactSynonym "distal monosomy 6p" MONDO:0012948 oboInOwl:hasExactSynonym "monosomy 6p25" -MONDO:0012948 oboInOwl:hasExactSynonym "chromosome 6pter-p24 deletion syndrome" MONDO:0014713 oboInOwl:hasExactSynonym "porokeratosis 9, multiple types; POROK9" MONDO:0014713 oboInOwl:hasExactSynonym "POROK9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014713 oboInOwl:hasExactSynonym "porokeratosis 9, multiple types" @@ -156916,10 +158791,12 @@ MONDO:0001539 oboInOwl:hasExactSynonym "retinal tear" MONDO:0001539 oboInOwl:hasExactSynonym "retinal break" GO:0007566 oboInOwl:hasExactSynonym "blastocyst implantation" MONDO:0013266 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant type 20" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0013266 oboInOwl:hasExactSynonym "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language" MONDO:0013266 oboInOwl:hasExactSynonym "MRD20" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013266 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant type 20" -MONDO:0013266 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant 20" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0013266 oboInOwl:hasExactSynonym "chromosome 5q14.3 deletion syndrome" MONDO:0013266 oboInOwl:hasExactSynonym "MEF2C autosomal dominant non-syndromic intellectual disability" +MONDO:0013266 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant 20" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0013266 oboInOwl:hasExactSynonym "autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C" MONDO:0013266 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant 20" MONDO:0015121 oboInOwl:hasExactSynonym "rare eye neoplasm" @@ -156945,6 +158822,7 @@ MONDO:0024235 oboInOwl:hasExactSynonym "Brenner tumor" MONDO:0011484 oboInOwl:hasExactSynonym "CVPT1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011484 oboInOwl:hasExactSynonym "catecholaminergic polymorphic ventricular tachycardia 1" MONDO:0011484 oboInOwl:hasExactSynonym "catecholaminergic polymorphic ventricular tachycardia type 1" +MONDO:0011484 oboInOwl:hasExactSynonym "ventricular tachycardia, catecholaminergic polymorphic, 1" ENVO:00000428 oboInOwl:hasExactSynonym "major habitat type" MONDO:0012126 oboInOwl:hasExactSynonym "familial osteonecrosis of the femoral head" MONDO:0012126 oboInOwl:hasExactSynonym "aseptic Necrosis of head of femur" @@ -156995,6 +158873,7 @@ MONDO:0010355 oboInOwl:hasExactSynonym "MRXSJ" http://purl.obolibrary.org/obo/mo MONDO:0010355 oboInOwl:hasExactSynonym "syndromic X-linked intellectual disability due to JARID1C mutation" MONDO:0010355 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic, Claes-Jensen type" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010355 oboInOwl:hasExactSynonym "MRXSCJ" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010355 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive" MONDO:0010355 oboInOwl:hasExactSynonym "syndromic X-linked intellectual disability JARID1C-related" MONDO:0014171 oboInOwl:hasExactSynonym "complex cortical dysplasia with other brain malformations type 4" MONDO:0014171 oboInOwl:hasExactSynonym "complex cortical dysplasia with other brain malformations caused by mutation in TUBG1" @@ -157080,6 +158959,7 @@ MONDO:0002397 oboInOwl:hasExactSynonym "liver sarcoma" MONDO:0002397 oboInOwl:hasExactSynonym "sarcoma of the liver" MONDO:0013116 oboInOwl:hasExactSynonym "congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome" MONDO:0013116 oboInOwl:hasExactSynonym "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome" +MONDO:0013116 oboInOwl:hasExactSynonym "myopathy, mitochondrial progressive, with congenital cataract and developmental delay" MONDO:0006153 oboInOwl:hasExactSynonym "retention polyp of colon" MONDO:0006153 oboInOwl:hasExactSynonym "colon retention polyp" MONDO:0006153 oboInOwl:hasExactSynonym "juvenile polyp of colon" @@ -157099,6 +158979,7 @@ MONDO:0007540 oboInOwl:hasExactSynonym "MEN1 multiple endocrine neoplasia" MONDO:0007540 oboInOwl:hasExactSynonym "multiple endocrine neoplasia, type I" MONDO:0007540 oboInOwl:hasExactSynonym "multiple endocrine adenomatosis" MONDO:0007540 oboInOwl:hasExactSynonym "multiple endocrine neoplasia type 1 syndrome" +MONDO:0007540 oboInOwl:hasExactSynonym "multiple endocrine neoplasia 1" MONDO:0007540 oboInOwl:hasExactSynonym "MEA type 1" MONDO:0007540 oboInOwl:hasExactSynonym "MEN1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007540 oboInOwl:hasExactSynonym "multiple endocrine neoplasia type 1" @@ -157159,6 +159040,8 @@ ECTO:0001057 oboInOwl:hasExactSynonym "decreased temperature exposure" MONDO:0019806 oboInOwl:hasExactSynonym "PPA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019806 oboInOwl:hasExactSynonym "Mesulam syndrome" MONDO:0009352 oboInOwl:hasExactSynonym "cystathionine beta-synthase deficiency" +MONDO:0009352 oboInOwl:hasExactSynonym "thrombosis, hyperhomocysteinemic" +MONDO:0009352 oboInOwl:hasExactSynonym "homocystinuria, B6-responsive and nonresponsive types" MONDO:0009352 oboInOwl:hasExactSynonym "homocystinuria due to cystathionine beta-synthase deficiency" MONDO:0009352 oboInOwl:hasExactSynonym "classic homocystinuria" NCBITaxon:27458 oboInOwl:hasExactSynonym "deer flies" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name @@ -157177,14 +159060,17 @@ MONDO:0005140 oboInOwl:hasExactSynonym "carcinoma of ovary" MONDO:0005140 oboInOwl:hasExactSynonym "epithelial ovarian cancer" MONDO:0005140 oboInOwl:hasExactSynonym "carcinoma of the ovary" MONDO:0044318 oboInOwl:hasExactSynonym "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold" +MONDO:0044318 oboInOwl:hasExactSynonym "Jansen de Vries syndrome" MONDO:0018546 oboInOwl:hasExactSynonym "serotonergic syndrome" MONDO:0018546 oboInOwl:hasExactSynonym "serotonin toxicity" MONDO:0018546 oboInOwl:hasExactSynonym "serotonin toxidrome" MONDO:0018546 oboInOwl:hasExactSynonym "serotonin storm" MONDO:0009731 oboInOwl:hasExactSynonym "Braun-Bayer syndrome" +MONDO:0008340 oboInOwl:hasExactSynonym "ptosis, congenital" MONDO:0008340 oboInOwl:hasExactSynonym "congenital ptosis" MONDO:0008340 oboInOwl:hasExactSynonym "congenital eyelid ptosis" MONDO:0008340 oboInOwl:hasExactSynonym "congenital ptosis (disease)" +MONDO:0008340 oboInOwl:hasExactSynonym "ptosis, hereditary congenital, 1" MONDO:0700001 oboInOwl:hasExactSynonym "SLS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003387 oboInOwl:hasExactSynonym "clear cell adenocarcinoma of the urethra" MONDO:0003387 oboInOwl:hasExactSynonym "urethra clear cell adenocarcinoma" @@ -157201,9 +159087,11 @@ UBERON:0000104 oboInOwl:hasExactSynonym "entire lifespan" UBERON:0000104 oboInOwl:hasExactSynonym "life" UBERON:0000104 oboInOwl:hasExactSynonym "entire life cycle" UBERON:0000104 oboInOwl:hasExactSynonym "lifespan" +MONDO:0010520 oboInOwl:hasExactSynonym "Alport syndrome 1, X-linked, X-linked dominant" MONDO:0010520 oboInOwl:hasExactSynonym "X-linked Alport syndrome" MONDO:0010520 oboInOwl:hasExactSynonym "Alport syndrome, X-linked" MONDO:0010520 oboInOwl:hasExactSynonym "nephropathy and deafness, X-linked" +MONDO:0032787 oboInOwl:hasExactSynonym "holoprosencephaly 12, with or without pancreatic agenesis" MONDO:0030010 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 25 with anosmia" MONDO:0030010 oboInOwl:hasExactSynonym "HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA" MONDO:0030010 oboInOwl:hasExactSynonym "HH25" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -157338,8 +159226,10 @@ MONDO:0019485 oboInOwl:hasExactSynonym "hemiconvulsion-hemiplegia-epilepsy syndr MONDO:0019485 oboInOwl:hasExactSynonym "IHHS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0031503 oboInOwl:hasExactSynonym "protein complex localisation" GO:0031503 oboInOwl:hasExactSynonym "establishment and maintenance of protein complex localization" +MONDO:0008575 oboInOwl:hasExactSynonym "nicotine addiction, protection from" MONDO:0008575 oboInOwl:hasExactSynonym "nicotine addiction" MONDO:0008575 oboInOwl:hasExactSynonym "tobacco use disorder" +MONDO:0008575 oboInOwl:hasExactSynonym "nicotine dependence, protection against" MONDO:0016367 oboInOwl:hasExactSynonym "polymyositis with skin involvement" MONDO:0016367 oboInOwl:hasExactSynonym "dermatopolymyositis" MONDO:0016367 oboInOwl:hasExactSynonym "DM" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -157367,6 +159257,7 @@ MONDO:0000452 oboInOwl:hasExactSynonym "progressive-relapsing MS" MONDO:0000452 oboInOwl:hasExactSynonym "PRMS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0006355 oboInOwl:hasExactSynonym "parotid gland acinic cell carcinoma" MONDO:0006355 oboInOwl:hasExactSynonym "parotid gland acinar cell carcinoma" +MONDO:0014267 oboInOwl:hasExactSynonym "immunodeficiency 15B" MONDO:0014267 oboInOwl:hasExactSynonym "SCID due to IKK2 deficiency" MONDO:0014267 oboInOwl:hasExactSynonym "immunodeficiency type 15" MONDO:0006008 oboInOwl:hasExactSynonym "vestibular neuritis" @@ -157382,6 +159273,7 @@ GO:0002832 oboInOwl:hasExactSynonym "downregulation of response to biotic stimul MONDO:0016296 oboInOwl:hasExactSynonym "holoprosencephaly sequence" MONDO:0016296 oboInOwl:hasExactSynonym "HPE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:58072 oboInOwl:hasExactSynonym "methylidyneoxonium" +MONDO:0010943 oboInOwl:hasExactSynonym "schizophrenia, susceptibility to, 4" MONDO:0010943 oboInOwl:hasExactSynonym "SCZD4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010943 oboInOwl:hasExactSynonym "schizophrenia 4" MONDO:0010943 oboInOwl:hasExactSynonym "schizophrenia type 4" @@ -157392,6 +159284,7 @@ UBERON:0000106 oboInOwl:hasExactSynonym "1-cell stage" UBERON:0000106 oboInOwl:hasExactSynonym "one cell stage" MONDO:0016682 oboInOwl:hasExactSynonym "Monstrocellular sarcoma [obs]" MONDO:0016682 oboInOwl:hasExactSynonym "Monstrocellular sarcoma" +MONDO:0009709 oboInOwl:hasExactSynonym "centronuclear myopathy 2" MONDO:0009709 oboInOwl:hasExactSynonym "myopathy, centronuclear, type 2" MONDO:0009709 oboInOwl:hasExactSynonym "BIN1 centronuclear myopathy" MONDO:0009709 oboInOwl:hasExactSynonym "myopathy, centronuclear, 2" @@ -157490,11 +159383,11 @@ MONDO:0014163 oboInOwl:hasExactSynonym "left ventricular noncompaction type 10" MONDO:0024613 oboInOwl:hasExactSynonym "bipolar depression" MONDO:0024613 oboInOwl:hasExactSynonym "bipolar affective disorder, current episode depression" MONDO:0012504 oboInOwl:hasExactSynonym "CATSHL syndrome" -MONDO:0030910 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant 45" MONDO:0004467 oboInOwl:hasExactSynonym "mature teratoma of stomach" MONDO:0004467 oboInOwl:hasExactSynonym "mature teratoma of the stomach" MONDO:0004467 oboInOwl:hasExactSynonym "stomach mature teratoma" MONDO:0004467 oboInOwl:hasExactSynonym "mature gastric teratoma" +MONDO:0030910 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant 45" MONDO:0005166 oboInOwl:hasExactSynonym "osteoma, benign" MONDO:0005166 oboInOwl:hasExactSynonym "osteoma" MONDO:0005166 oboInOwl:hasExactSynonym "osteoma (disease)" @@ -157508,9 +159401,9 @@ MONDO:0700066 oboInOwl:hasExactSynonym "myopathy caused by mutation in FKRP" MONDO:0700066 oboInOwl:hasExactSynonym "FKRP-related myopathy" MONDO:0700066 oboInOwl:hasExactSynonym "FKRP myopathy" CHEBI:23116 oboInOwl:hasExactSynonym "chlorine" +MONDO:0001442 oboInOwl:hasExactSynonym "dysthymia" MONDO:0023601 oboInOwl:hasExactSynonym "late-onset congenital adrenal hyperplasia" MONDO:0023601 oboInOwl:hasExactSynonym "non-classic congenital adrenal hyperplasia" -MONDO:0001442 oboInOwl:hasExactSynonym "dysthymia" MONDO:0007345 oboInOwl:hasExactSynonym "aortic coarctation" MONDO:0013945 oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 9B" MONDO:0013945 oboInOwl:hasExactSynonym "peroxisome biogenesis disorder type 9B" @@ -157523,18 +159416,18 @@ MONDO:0003090 oboInOwl:hasExactSynonym "carcinoma of the extrahepatic bile duct" MONDO:0003090 oboInOwl:hasExactSynonym "extrahepatic bile duct cancer" MONDO:0003090 oboInOwl:hasExactSynonym "carcinoma of extrahepatic bile duct" MONDO:0003090 oboInOwl:hasExactSynonym "extrahepatic bile duct carcinoma" -MONDO:0015974 oboInOwl:hasExactSynonym "severe combined immunodeficiency (disease)" -MONDO:0015974 oboInOwl:hasExactSynonym "severe combined immunodeficiency disease" MONDO:0015974 oboInOwl:hasExactSynonym "combined T and B cell inborn immunodeficiency" -MONDO:0015974 oboInOwl:hasExactSynonym "SCID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0015974 oboInOwl:hasExactSynonym "severe combined immunodeficiency disease" MONDO:0015974 oboInOwl:hasExactSynonym "severe combined immunodeficiency" +MONDO:0015974 oboInOwl:hasExactSynonym "severe combined immunodeficiency (disease)" +MONDO:0015974 oboInOwl:hasExactSynonym "SCID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003709 oboInOwl:hasExactSynonym "fear of open spaces (finding)" MONDO:0003709 oboInOwl:hasExactSynonym "fear of open spaces" CL:1000443 oboInOwl:hasExactSynonym "smooth muscle cell of ciliary body" HP:0007707 oboInOwl:hasExactSynonym "Lens agenesis" +MONDO:0002844 oboInOwl:hasExactSynonym "lymphocytic gastritis" MONDO:0009983 oboInOwl:hasExactSynonym "retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome" MONDO:0009983 oboInOwl:hasExactSynonym "retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome" -MONDO:0002844 oboInOwl:hasExactSynonym "lymphocytic gastritis" MONDO:0012088 oboInOwl:hasExactSynonym "ciliary dyskinesia, primary, type 5" MONDO:0012088 oboInOwl:hasExactSynonym "HYDIN primary ciliary dyskinesia" MONDO:0012088 oboInOwl:hasExactSynonym "primary ciliary dyskinesia 5 without situs inversus" @@ -157549,6 +159442,7 @@ MONDO:0010690 oboInOwl:hasExactSynonym "congenital stationary night blindness 1A MONDO:0010690 oboInOwl:hasExactSynonym "NBMI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010690 oboInOwl:hasExactSynonym "hemeralopia-myopia" MONDO:0010690 oboInOwl:hasExactSynonym "congenital stationary night blindness with myopia" +MONDO:0010690 oboInOwl:hasExactSynonym "night blindness, congenital stationary (complete), 1A, X-linked, X-linked recessive" MONDO:0010690 oboInOwl:hasExactSynonym "congenital stationary night blindness 1A" MONDO:0010690 oboInOwl:hasExactSynonym "CSNB1A" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010690 oboInOwl:hasExactSynonym "complete CSNB X-linked" @@ -157615,7 +159509,9 @@ MONDO:0019978 oboInOwl:hasExactSynonym "Robinow-Silverman-Smith syndrome" CHEBI:46963 oboInOwl:hasExactSynonym "2-aminooctadecene-1,3-diol" GO:0051356 oboInOwl:hasExactSynonym "perception of orientation with respect to gravity by visual perception" MONDO:0014221 oboInOwl:hasExactSynonym "triosephosphate isomerase deficiency" +MONDO:0014221 oboInOwl:hasExactSynonym "hemolytic anemia due to triosephosphate isomerase deficiency" MONDO:0014221 oboInOwl:hasExactSynonym "triose phosphate-isomerase deficiency" +MONDO:0012895 oboInOwl:hasExactSynonym "dystonia-17, primary torsion" MONDO:0012895 oboInOwl:hasExactSynonym "torsion dystonia type 17" MONDO:0013841 oboInOwl:hasExactSynonym "STUT3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013841 oboInOwl:hasExactSynonym "stuttering, familial persistent, 3" @@ -157654,6 +159550,7 @@ MONDO:0019169 oboInOwl:hasExactSynonym "PDHC" http://purl.obolibrary.org/obo/mon MONDO:0019169 oboInOwl:hasExactSynonym "deficiency of pyruvic dehydrogenase" MONDO:0013724 oboInOwl:hasExactSynonym "bacteremia, susceptibility to, 2" MONDO:0013724 oboInOwl:hasExactSynonym "bacteremia, susceptibility caused by mutation in CISH" +MONDO:0013724 oboInOwl:hasExactSynonym "bacteremia, susceptibility to" MONDO:0013724 oboInOwl:hasExactSynonym "CISH bacteremia, susceptibility" MONDO:0013724 oboInOwl:hasExactSynonym "bacteremia, susceptibility to, type 2" MONDO:0009157 oboInOwl:hasExactSynonym "split hand-foot malformation type 6" @@ -157671,6 +159568,7 @@ MONDO:0012506 oboInOwl:hasExactSynonym "familial arrhythmogenic right ventricula MONDO:0012506 oboInOwl:hasExactSynonym "ARVD11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012506 oboInOwl:hasExactSynonym "arrhythmogenic right ventricular dysplasia, familial, type 11" MONDO:0012506 oboInOwl:hasExactSynonym "DSC2 familial isolated arrhythmogenic right ventricular dysplasia" +MONDO:0012506 oboInOwl:hasExactSynonym "arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair" MONDO:0012506 oboInOwl:hasExactSynonym "ARVC11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0006039 oboInOwl:hasExactSynonym "infectious colitis" MONDO:0017606 oboInOwl:hasExactSynonym "facial nerve paralysis due to VZV" @@ -157695,9 +159593,12 @@ MONDO:0016890 oboInOwl:hasExactSynonym "partial deletion of chromosome 8p" MONDO:0016890 oboInOwl:hasExactSynonym "partial deletion of the short arm of chromosome type 8" MONDO:0016890 oboInOwl:hasExactSynonym "partial monosomy of chromosome 8p" MONDO:0009415 oboInOwl:hasExactSynonym "hypoglycemia, leucine-induced" +MONDO:0009415 oboInOwl:hasExactSynonym "hypoglycemia of infancy, leucine-sensitive" MONDO:0013078 oboInOwl:hasExactSynonym "IDDM24" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013078 oboInOwl:hasExactSynonym "insulin-dependent diabetes mellitus 24" +MONDO:0011766 oboInOwl:hasExactSynonym "46XY gonadal dysgenesis with minifascicular neuropathy" MONDO:0010512 oboInOwl:hasExactSynonym "MRXSB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010512 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked, syndromic, Bain type, X-linked dominant" MONDO:0010512 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic, bain type" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010512 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndromic, bain type" MONDO:0100391 oboInOwl:hasExactSynonym "AML, t(2;12)" @@ -157709,8 +159610,8 @@ MONDO:0008145 oboInOwl:hasExactSynonym "Ollier disease" MONDO:0008145 oboInOwl:hasExactSynonym "dyschondroplasia" MONDO:0008145 oboInOwl:hasExactSynonym "Kast's syndrome" MONDO:0008145 oboInOwl:hasExactSynonym "Ollier's disease" -MONDO:0018210 oboInOwl:hasExactSynonym "AxD type II" MONDO:0015824 oboInOwl:hasExactSynonym "Richieri-Costa-Gorlin syndrome" +MONDO:0018210 oboInOwl:hasExactSynonym "AxD type II" MONDO:0013947 oboInOwl:hasExactSynonym "Young adult-onset dHMN" MONDO:0013947 oboInOwl:hasExactSynonym "dSMA5" MONDO:0013947 oboInOwl:hasExactSynonym "autosomal recessive distal spinal muscular atrophy type 5" @@ -157728,6 +159629,7 @@ MONDO:0004914 oboInOwl:hasExactSynonym "syndromic disease of median arcuate liga MONDO:0000665 oboInOwl:hasExactSynonym "dyspraxia" MONDO:0000665 oboInOwl:hasExactSynonym "Apraxias" MONDO:0011953 oboInOwl:hasExactSynonym "ADANE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011953 oboInOwl:hasExactSynonym "encephalopathy, acute, infection-induced, 3, susceptibility to" MONDO:0011953 oboInOwl:hasExactSynonym "recurrent acute necrotizing encephalopathy" MONDO:0011953 oboInOwl:hasExactSynonym "encephalopathy, acute, infection-induced, susceptibility to, type 3" MONDO:0003029 oboInOwl:hasExactSynonym "hemangiosarcoma of the skin" @@ -157815,9 +159717,9 @@ GO:0032055 oboInOwl:hasExactSynonym "down regulation of translation in response GO:0032055 oboInOwl:hasExactSynonym "downregulation of translation in response to stress" GO:0032055 oboInOwl:hasExactSynonym "down-regulation of translation in response to stress" NCBITaxon:11050 oboInOwl:hasExactSynonym "Flavivirus (arbovirus group B)" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name +GO:0033001 oboInOwl:hasExactSynonym "FcgRIII complex" MONDO:0004506 oboInOwl:hasExactSynonym "peripheral breast papilloma" MONDO:0004506 oboInOwl:hasExactSynonym "microscopic breast papilloma" -GO:0033001 oboInOwl:hasExactSynonym "FcgRIII complex" MONDO:0012674 oboInOwl:hasExactSynonym "age-related macular degeneration caused by mutation in TLR4" MONDO:0012674 oboInOwl:hasExactSynonym "age related macular degeneration type 10" MONDO:0012674 oboInOwl:hasExactSynonym "TLR4 age-related macular degeneration" @@ -157829,9 +159731,10 @@ MONDO:0013620 oboInOwl:hasExactSynonym "congenital myasthenic syndrome caused by MONDO:0013620 oboInOwl:hasExactSynonym "myasthenic syndrome, congenital, type 16" MONDO:0013620 oboInOwl:hasExactSynonym "congenital myasthenic syndrome acetazolamide-responsive" MONDO:0013620 oboInOwl:hasExactSynonym "congenital myasthenic syndrome type 16" +MONDO:0030067 oboInOwl:hasExactSynonym "Treacher-Collins syndrome 4" +MONDO:0030067 oboInOwl:hasExactSynonym "TCS4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030067 oboInOwl:hasExactSynonym "treacher collins syndrome 4" MONDO:0030067 oboInOwl:hasExactSynonym "TREACHER COLLINS SYNDROME 4" -MONDO:0030067 oboInOwl:hasExactSynonym "TCS4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010327 oboInOwl:hasExactSynonym "mental retardation, X-linked syndromic 10" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010327 oboInOwl:hasExactSynonym "17-beta-hydroxysteroid dehydrogenase 10 deficiency" MONDO:0010327 oboInOwl:hasExactSynonym "chorioathetosis with mental retardation and abnormal behavior" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -157847,6 +159750,7 @@ MONDO:0010327 oboInOwl:hasExactSynonym "mental retardation, X-linked, syndromic MONDO:0010327 oboInOwl:hasExactSynonym "HSD10MD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010327 oboInOwl:hasExactSynonym "HSD17B10 deficiency" MONDO:0010327 oboInOwl:hasExactSynonym "17-beta-hydroxysteroid dehydrogenase X deficiency" +MONDO:0010327 oboInOwl:hasExactSynonym "HSD10 mitochondrial disease, X-linked dominant" MONDO:0010327 oboInOwl:hasExactSynonym "HSD10 deficiency" MONDO:0010327 oboInOwl:hasExactSynonym "mental retardation with chorioathetosis and abnormal behavior" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010327 oboInOwl:hasExactSynonym "MRXS10" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -157865,9 +159769,11 @@ MONDO:0013726 oboInOwl:hasExactSynonym "encephalopathy, lethal, due to defective CL:0002435 oboInOwl:hasExactSynonym "T.8SP69+.Th" CL:0002435 oboInOwl:hasExactSynonym "intermediate CD8-single-positive" MONDO:0008291 oboInOwl:hasExactSynonym "palmar, plantar and disseminated porokeratosis" +MONDO:0008291 oboInOwl:hasExactSynonym "porokeratosis 2, palmar, plantar, and disseminated" MONDO:0008291 oboInOwl:hasExactSynonym "porokeratosis plantaris palmaris et disseminata" MONDO:0010104 oboInOwl:hasExactSynonym "Stoelinga-de Koomen-Davis syndrome" MONDO:0020781 oboInOwl:hasExactSynonym "NAD(P)HX epimerase deficiency" +MONDO:0020781 oboInOwl:hasExactSynonym "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" MONDO:0011662 oboInOwl:hasExactSynonym "compulsive gambling" MONDO:0011662 oboInOwl:hasExactSynonym "pathological gambling" MONDO:0004729 oboInOwl:hasExactSynonym "dyskinesia of oesophagus" @@ -157932,12 +159838,16 @@ MONDO:0010083 oboInOwl:hasExactSynonym "SSADH" http://purl.obolibrary.org/obo/mo MONDO:0010083 oboInOwl:hasExactSynonym "4-hydroxybutyric aciduria" MONDO:0010083 oboInOwl:hasExactSynonym "gamma-hydroxybutyric aciduria" MONDO:0010083 oboInOwl:hasExactSynonym "SSADH deficiency" +MONDO:0021024 oboInOwl:hasExactSynonym "malaria, vivax, protection against" MONDO:0021024 oboInOwl:hasExactSynonym "malaria, Severe, susceptibility to" MONDO:0021024 oboInOwl:hasExactSynonym "malaria, Severe, resistance to" +MONDO:0021024 oboInOwl:hasExactSynonym "malaria, protection against" MONDO:0021024 oboInOwl:hasExactSynonym "malaria, resistance to" MONDO:0021024 oboInOwl:hasExactSynonym "malaria, cerebral, resistance to" MONDO:0021024 oboInOwl:hasExactSynonym "malaria, susceptibility to" MONDO:0021024 oboInOwl:hasExactSynonym "malaria, cerebral, susceptibility to" +MONDO:0021024 oboInOwl:hasExactSynonym "resistance to malaria due to G6PD deficiency" +MONDO:0021024 oboInOwl:hasExactSynonym "malaria, cerebral, reduced risk of" HsapDv:0000092 oboInOwl:hasExactSynonym "45-64 years" MONDO:0015272 oboInOwl:hasExactSynonym "familial streblodactyly with amino-aciduria" MONDO:0011955 oboInOwl:hasExactSynonym "diabetes mellitus, noninsulin-dependent, type 4" @@ -157949,6 +159859,7 @@ MONDO:0004593 oboInOwl:hasExactSynonym "Bartholin's cyst" NCBITaxon:6269 oboInOwl:hasExactSynonym "herring worm" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name GO:0009746 oboInOwl:hasExactSynonym "response to hexose stimulus" MONDO:0014423 oboInOwl:hasExactSynonym "SCID due to DNA-PKcs deficiency" +MONDO:0014423 oboInOwl:hasExactSynonym "immunodeficiency 26, with or without neurologic abnormalities" MONDO:0003396 oboInOwl:hasExactSynonym "gum polyp" MONDO:0003396 oboInOwl:hasExactSynonym "polyp of the gum" MONDO:0003396 oboInOwl:hasExactSynonym "gingival polyp" @@ -157984,18 +159895,24 @@ MONDO:0016500 oboInOwl:hasExactSynonym "acute sensory ataxic GBS" MONDO:0016500 oboInOwl:hasExactSynonym "ASAN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016500 oboInOwl:hasExactSynonym "acute sensory ataxic Guillain-BarrC) syndrome" MONDO:0016500 oboInOwl:hasExactSynonym "acute sensory ataxic Guillain-Barré syndrome" +MONDO:0018874 oboInOwl:hasExactSynonym "acute myeloid leukemia, somatic" MONDO:0018874 oboInOwl:hasExactSynonym "AML" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0018874 oboInOwl:hasExactSynonym "leukemia, acute myeloid, somatic" MONDO:0018874 oboInOwl:hasExactSynonym "leukemia, myelocytic, acute" MONDO:0018874 oboInOwl:hasExactSynonym "hematopoeitic - acute Myleogenous leukemia (AML)" MONDO:0018874 oboInOwl:hasExactSynonym "ANLL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018874 oboInOwl:hasExactSynonym "AML - acute myeloid leukemia" MONDO:0018874 oboInOwl:hasExactSynonym "acute myeloid leukemia" +MONDO:0018874 oboInOwl:hasExactSynonym "leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation" MONDO:0018874 oboInOwl:hasExactSynonym "myeloid leukemia, acute" +MONDO:0018874 oboInOwl:hasExactSynonym "myeloid leukemia, acute, M4/M4Eo subtype, somatic" MONDO:0018874 oboInOwl:hasExactSynonym "acute myelocytic leukemia" MONDO:0018874 oboInOwl:hasExactSynonym "acute myelogenous leukemia" MONDO:0018874 oboInOwl:hasExactSynonym "acute nonlymphocytic leukemia" MONDO:0018874 oboInOwl:hasExactSynonym "acute myeloid leukemia (AML)" +MONDO:0018874 oboInOwl:hasExactSynonym "leukemia, acute myeloid, autosomal dominant, somatic mutation" MONDO:0018874 oboInOwl:hasExactSynonym "acute Nonlymphocytic leukemia" +MONDO:0018874 oboInOwl:hasExactSynonym "leukemia, acute myeloid, reduced survival in, somatic" MONDO:0018874 oboInOwl:hasExactSynonym "acute myeloblastic leukemia" MONDO:0018874 oboInOwl:hasExactSynonym "acute myelogenous leukemias" MONDO:0018874 oboInOwl:hasExactSynonym "acute granulocytic leukemia" @@ -158003,6 +159920,7 @@ MONDO:0014529 oboInOwl:hasExactSynonym "cerebellar-facial-dental syndrome" MONDO:0014529 oboInOwl:hasExactSynonym "Cerebellofaciodental syndrome" MONDO:0009751 oboInOwl:hasExactSynonym "neuropathy, hereditary sensory, atypical" MONDO:0014306 oboInOwl:hasExactSynonym "DADA2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014306 oboInOwl:hasExactSynonym "vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome" MONDO:0014306 oboInOwl:hasExactSynonym "childhood-onset polyarteritis nodosa" MONDO:0014306 oboInOwl:hasExactSynonym "adenosine deaminase 2 deficiency" MONDO:0014306 oboInOwl:hasExactSynonym "ADA2 deficiency" @@ -158023,13 +159941,14 @@ MONDO:0006100 oboInOwl:hasExactSynonym "obsolete Bartholin gland carcinoma (dise MONDO:0010495 oboInOwl:hasExactSynonym "trichothiodystrophy 5, nonphotosensitive" MONDO:0010495 oboInOwl:hasExactSynonym "RNF113A nonphotosensitive trichothiodystrophy" MONDO:0010495 oboInOwl:hasExactSynonym "nonphotosensitive trichothiodystrophy caused by mutation in RNF113A" -MONDO:0009281 oboInOwl:hasExactSynonym "GCDHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009281 oboInOwl:hasExactSynonym "glutaryl-coenzyme A dehydrogenase deficiency" MONDO:0009281 oboInOwl:hasExactSynonym "glutaric aciduria, type 1" +MONDO:0009281 oboInOwl:hasExactSynonym "glutaricaciduria, type I" MONDO:0009281 oboInOwl:hasExactSynonym "glutaryl-CoA dehydrogenase deficiency" -MONDO:0009281 oboInOwl:hasExactSynonym "GA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009281 oboInOwl:hasExactSynonym "glutaric aciduria type 1" +MONDO:0009281 oboInOwl:hasExactSynonym "glutaryl-coenzyme A dehydrogenase deficiency" +MONDO:0009281 oboInOwl:hasExactSynonym "GCDHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009281 oboInOwl:hasExactSynonym "glutaric acidemia type 1" +MONDO:0009281 oboInOwl:hasExactSynonym "glutaric aciduria type 1" +MONDO:0009281 oboInOwl:hasExactSynonym "GA1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0006417 oboInOwl:hasExactSynonym "regulation of protein biosynthesis" GO:0006417 oboInOwl:hasExactSynonym "regulation of protein synthesis" GO:0006417 oboInOwl:hasExactSynonym "regulation of protein anabolism" @@ -158037,8 +159956,8 @@ GO:0006417 oboInOwl:hasExactSynonym "regulation of protein formation" MONDO:0020560 oboInOwl:hasExactSynonym "atypical teratoid/rhabdoid tumor" MONDO:0020560 oboInOwl:hasExactSynonym "malignant brain rhabdoid tumor" MONDO:0020560 oboInOwl:hasExactSynonym "primary malignant rhabdoid tumor of brain" -MONDO:0020560 oboInOwl:hasExactSynonym "rhabdoid tumor of central nervous system" MONDO:0020560 oboInOwl:hasExactSynonym "primary malignant brain rhabdoid tumor" +MONDO:0020560 oboInOwl:hasExactSynonym "rhabdoid tumor of central nervous system" MONDO:0020560 oboInOwl:hasExactSynonym "primary malignant rhabdoid neoplasm of brain" MONDO:0020560 oboInOwl:hasExactSynonym "primary malignant brain rhabdoid neoplasm" MONDO:0020560 oboInOwl:hasExactSynonym "ATT/RHT" @@ -158101,13 +160020,13 @@ HP:0003307 oboInOwl:hasExactSynonym "Prominent swayback" http://purl.obolibrary. HP:0003307 oboInOwl:hasExactSynonym "Lordosis" GO:0035176 oboInOwl:hasExactSynonym "social behaviour" HP:0010522 oboInOwl:hasExactSynonym "Reading disability" http://purl.obolibrary.org/obo/hp.obo#layperson -MONDO:0011264 oboInOwl:hasExactSynonym "generalized isolated dystonia caused by mutation in THAP1" MONDO:0011264 oboInOwl:hasExactSynonym "DYT6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011264 oboInOwl:hasExactSynonym "idiopathic torsion dystonia of mixed type" MONDO:0011264 oboInOwl:hasExactSynonym "generalized cervical and upper-limb-onset dystonia" MONDO:0011264 oboInOwl:hasExactSynonym "DYT-THAP1" MONDO:0011264 oboInOwl:hasExactSynonym "THAP1 generalized isolated dystonia" MONDO:0011264 oboInOwl:hasExactSynonym "torsion dystonia type 6" +MONDO:0011264 oboInOwl:hasExactSynonym "generalized isolated dystonia caused by mutation in THAP1" MONDO:0002398 oboInOwl:hasExactSynonym "mucinous adenofibroma" MONDO:0003585 oboInOwl:hasExactSynonym "liposarcoma of adults" MONDO:0003585 oboInOwl:hasExactSynonym "adult liposarcoma" @@ -158126,6 +160045,7 @@ MONDO:0005774 oboInOwl:hasExactSynonym "farcy pipes" MONDO:0005774 oboInOwl:hasExactSynonym "Burkholderia mallei caused disease or disorder" MONDO:0005774 oboInOwl:hasExactSynonym "Burkholderia mallei infectious disease" MONDO:0013267 oboInOwl:hasExactSynonym "chromosome 16p11.2 deletion syndrome, type 220kb" +MONDO:0013267 oboInOwl:hasExactSynonym "body mass index QTL16" MONDO:0013267 oboInOwl:hasExactSynonym "distal monosomy 16p11.2" MONDO:0013267 oboInOwl:hasExactSynonym "distal del(16)(p11.2)" MONDO:0013267 oboInOwl:hasExactSynonym "distal 16p11.2 microdeletion syndrome" @@ -158139,6 +160059,7 @@ MONDO:0009530 oboInOwl:hasExactSynonym "lipoproteinosis" MONDO:0033043 oboInOwl:hasExactSynonym "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" MONDO:0013022 oboInOwl:hasExactSynonym "restless legs syndrome, susceptibility to, 7" MONDO:0013022 oboInOwl:hasExactSynonym "RLS7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013022 oboInOwl:hasExactSynonym "restless legs syndrome 7" MONDO:0014580 oboInOwl:hasExactSynonym "autosomal dominant mental retardation 33" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014580 oboInOwl:hasExactSynonym "autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6" MONDO:0014580 oboInOwl:hasExactSynonym "MRD33" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -158161,9 +160082,10 @@ MONDO:0011485 oboInOwl:hasExactSynonym "autosomal recessive congenital ichthyosi MONDO:0011485 oboInOwl:hasExactSynonym "ARCI5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0072369 oboInOwl:hasExactSynonym "regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter" MONDO:0012127 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, type 2J" -MONDO:0012127 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN" MONDO:0012127 oboInOwl:hasExactSynonym "TTN autosomal recessive limb-girdle muscular dystrophy" +MONDO:0012127 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN" MONDO:0012127 oboInOwl:hasExactSynonym "LGMD2J" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012127 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal recessive 10" MONDO:0018289 oboInOwl:hasExactSynonym "CDG with dilated cardiomyopathy" MONDO:0013685 oboInOwl:hasExactSynonym "BRCA1 familial pancreatic carcinoma" MONDO:0013685 oboInOwl:hasExactSynonym "pancreatic cancer, susceptibility to, type 4" @@ -158200,10 +160122,11 @@ MONDO:0011368 oboInOwl:hasExactSynonym "thyroid gland papillary Microcarcinoma" MONDO:0011368 oboInOwl:hasExactSynonym "papillary Microcarcinoma of the thyroid" HP:0002160 oboInOwl:hasExactSynonym "Elevated blood homocystine" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0002160 oboInOwl:hasExactSynonym "Homocystinemia" -MONDO:0100079 oboInOwl:hasExactSynonym "EIEE6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100079 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 6" +MONDO:0100079 oboInOwl:hasExactSynonym "EIEE6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0100079 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy, 6" MONDO:0100079 oboInOwl:hasExactSynonym "DEE6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0100079 oboInOwl:hasExactSynonym "Dravet syndrome" MONDO:0009353 oboInOwl:hasExactSynonym "homocystinuria due to methylene tetrahydrofolate reductase deficiency" MONDO:0009353 oboInOwl:hasExactSynonym "MTHFR deficiency" MONDO:0009353 oboInOwl:hasExactSynonym "methylene tetrahydrofolate reductase deficiency" @@ -158232,6 +160155,7 @@ MONDO:0013939 oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 7B" NCBITaxon:11146 oboInOwl:hasExactSynonym "porcine respiratory virus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:11146 oboInOwl:hasExactSynonym "porcine respiratory coronavirus PRCV" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name MONDO:0010356 oboInOwl:hasExactSynonym "NSIAD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010356 oboInOwl:hasExactSynonym "nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive" MONDO:0010356 oboInOwl:hasExactSynonym "nephrogenic syndrome of inappropriate antidiuresis" HP:0000011 oboInOwl:hasExactSynonym "Lack of bladder control due to nervous system injury" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0014172 oboInOwl:hasExactSynonym "azoospermia caused by mutation in NANOS1" @@ -158263,6 +160187,7 @@ MONDO:0006764 oboInOwl:hasExactSynonym "Fungi infectious meningitis" MONDO:0006764 oboInOwl:hasExactSynonym "Fungi caused infectious meningitis" MONDO:0022904 oboInOwl:hasExactSynonym "cryofibrinogenemia" MONDO:0012700 oboInOwl:hasExactSynonym "distal renal tubular acidosis with anemia" +MONDO:0012700 oboInOwl:hasExactSynonym "distal renal tubular acidosis 4 with hemolytic anemia" MONDO:0012700 oboInOwl:hasExactSynonym "dRTA with anemia" UBERON:0000463 oboInOwl:hasExactSynonym "portion of organism substance" UBERON:0000463 oboInOwl:hasExactSynonym "portion of body substance" @@ -158381,9 +160306,11 @@ MONDO:0002235 oboInOwl:hasExactSynonym "tumor of eyelid" MONDO:0002235 oboInOwl:hasExactSynonym "eyelid tumor" MONDO:0002235 oboInOwl:hasExactSynonym "palpebral tumor" MONDO:0002235 oboInOwl:hasExactSynonym "neoplasm of the eyelid" +MONDO:0020610 oboInOwl:hasExactSynonym "blood group, Diego" MONDO:0017106 oboInOwl:hasExactSynonym "retrocerebellar cyst (disease)" MONDO:0017106 oboInOwl:hasExactSynonym "Retrocerebellar arachnoid cyst" MONDO:0017106 oboInOwl:hasExactSynonym "Retrocerebellar cyst" +MONDO:0010300 oboInOwl:hasExactSynonym "mental retardation, X-linked 53, X-linked recessive" MONDO:0010300 oboInOwl:hasExactSynonym "MRX53" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010300 oboInOwl:hasExactSynonym "intellectual disability, X-linked 53" MONDO:0005611 oboInOwl:hasExactSynonym "transitional cell carcinoma of the urinary bladder" @@ -158427,10 +160354,10 @@ GO:0030210 oboInOwl:hasExactSynonym "heparin anabolism" GO:0030210 oboInOwl:hasExactSynonym "heparin biosynthesis" GO:0030210 oboInOwl:hasExactSynonym "heparin formation" GO:0030210 oboInOwl:hasExactSynonym "heparin synthesis" +MONDO:0009732 oboInOwl:hasExactSynonym "Finnish congenital nephrosis" MONDO:0009732 oboInOwl:hasExactSynonym "congenital nephrotic syndrome - Finnish type" -MONDO:0009732 oboInOwl:hasExactSynonym "congenital nephrotic syndrome, Finnish type" MONDO:0009732 oboInOwl:hasExactSynonym "nephrotic syndrome - NPHS1 associated" -MONDO:0009732 oboInOwl:hasExactSynonym "Finnish congenital nephrosis" +MONDO:0009732 oboInOwl:hasExactSynonym "congenital nephrotic syndrome, Finnish type" MONDO:0010944 oboInOwl:hasExactSynonym "mitochondrial import-stimulating factor" HP:0012369 oboInOwl:hasExactSynonym "Malar anomaly" MONDO:0017746 oboInOwl:hasExactSynonym "atypical RTT" @@ -158438,6 +160365,7 @@ MONDO:0017746 oboInOwl:hasExactSynonym "Rett syndrome variant" MONDO:0010521 oboInOwl:hasExactSynonym "X-linked amelogenesis imperfecta 1" MONDO:0010521 oboInOwl:hasExactSynonym "AIH1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010521 oboInOwl:hasExactSynonym "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1" +MONDO:0010521 oboInOwl:hasExactSynonym "amelogenesis imperfecta, type 1E, X-linked dominant" MONDO:0010521 oboInOwl:hasExactSynonym "amelogenesis imperfecta hypomaturationtype with snow-capped teeth" MONDO:0010521 oboInOwl:hasExactSynonym "amelogenesis imperfecta caused by mutation in AMELX" MONDO:0010521 oboInOwl:hasExactSynonym "amelogenesis imperfecta type IE" @@ -158446,6 +160374,7 @@ MONDO:0016683 oboInOwl:hasExactSynonym "gliomatosis" MONDO:0016683 oboInOwl:hasExactSynonym "astrocytosis cerebri" MONDO:0016683 oboInOwl:hasExactSynonym "gliomatosis cerebri (morphologic abnormality)" MONDO:0016683 oboInOwl:hasExactSynonym "gliomatosis cerebri" +MONDO:0012119 oboInOwl:hasExactSynonym "Asperger syndrome susceptibility 3" MONDO:0012119 oboInOwl:hasExactSynonym "ASPG3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018883 oboInOwl:hasExactSynonym "Seip-Bernardinelli syndrome" MONDO:0018883 oboInOwl:hasExactSynonym "Berardinelli lipodystrophy syndrome" @@ -158493,6 +160422,7 @@ MONDO:0004585 oboInOwl:hasExactSynonym "polyhydramnios" HP:0031365 oboInOwl:hasExactSynonym "Flat purpura" MONDO:0009379 oboInOwl:hasExactSynonym "hyperbilirubinemia, Rotor type" MONDO:0009379 oboInOwl:hasExactSynonym "Rotor syndrome" +MONDO:0009379 oboInOwl:hasExactSynonym "hyperbilirubinemia, rotor type, digenic" MONDO:0015975 oboInOwl:hasExactSynonym "HIGM with susceptibility to opportunistic infections" MONDO:0004422 oboInOwl:hasExactSynonym "Falcine meningioma" MONDO:0004422 oboInOwl:hasExactSynonym "meningioma of falx of cerebrum" @@ -158517,6 +160447,7 @@ MONDO:0007816 oboInOwl:hasExactSynonym "immune suppression" MONDO:0002845 oboInOwl:hasExactSynonym "necrotizing gastritis" MONDO:0020580 oboInOwl:hasExactSynonym "germinomatous germ cell tumor" MONDO:0010691 oboInOwl:hasExactSynonym "Norrie disease" +MONDO:0010691 oboInOwl:hasExactSynonym "Norrie disease, X-linked recessive" MONDO:0010691 oboInOwl:hasExactSynonym "atrophia bulborum hereditaria" MONDO:0010691 oboInOwl:hasExactSynonym "Episkopi blindness" MONDO:0010691 oboInOwl:hasExactSynonym "Norrie-Warburg disease" @@ -158544,9 +160475,11 @@ MONDO:0012011 oboInOwl:hasExactSynonym "coronary artery disease caused by mutati MONDO:0012011 oboInOwl:hasExactSynonym "coronary artery disease, autosomal dominant, type 1" MONDO:0014385 oboInOwl:hasExactSynonym "amelogenesis imperfecta caused by mutation in SLC24A4" MONDO:0014385 oboInOwl:hasExactSynonym "SLC24A4 amelogenesis imperfecta" +MONDO:0014385 oboInOwl:hasExactSynonym "amelogenesis imperfecta, type IIA5" MONDO:0014385 oboInOwl:hasExactSynonym "amelogenesis imperfecta type IIA5" MONDO:0014385 oboInOwl:hasExactSynonym "AI2A5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014385 oboInOwl:hasExactSynonym "amelogenesis imperfecta hypomaturation type IIA5" +MONDO:0020612 oboInOwl:hasExactSynonym "blood group, Kidd" MONDO:0016462 oboInOwl:hasExactSynonym "nonsyndromic agammaglobulinemia" MONDO:0016462 oboInOwl:hasExactSynonym "isolated hypogammaglobulinemia" MONDO:0008426 oboInOwl:hasExactSynonym "Shprintzen-Goldberg syndrome" @@ -158559,6 +160492,7 @@ MONDO:0012089 oboInOwl:hasExactSynonym "congenital ichthyosis type 4" MONDO:0012089 oboInOwl:hasExactSynonym "ichthyosis prematurity syndrome" MONDO:0007229 oboInOwl:hasExactSynonym "Brachymetatarsus type 4" MONDO:0014222 oboInOwl:hasExactSynonym "immunodeficiency 14" +MONDO:0014222 oboInOwl:hasExactSynonym "immunodeficiency 14A, autosomal dominant" MONDO:0014222 oboInOwl:hasExactSynonym "immunodeficiency type 14" MONDO:0013452 oboInOwl:hasExactSynonym "multisystemic smooth muscle dysfunction syndrome" GO:0051176 oboInOwl:hasExactSynonym "up-regulation of sulfur metabolic process" @@ -158602,6 +160536,11 @@ MONDO:0004017 oboInOwl:hasExactSynonym "atypical pineal teratoma" MONDO:0004017 oboInOwl:hasExactSynonym "immature teratoma of pineal area" GO:0000226 oboInOwl:hasExactSynonym "microtubule dynamics" GO:0000226 oboInOwl:hasExactSynonym "microtubule cytoskeleton organisation" +MONDO:0045001 oboInOwl:hasExactSynonym "disease of cardiac ventricle" +MONDO:0045001 oboInOwl:hasExactSynonym "cardiac ventricle disease or disorder" +MONDO:0045001 oboInOwl:hasExactSynonym "disease or disorder of cardiac ventricle" +MONDO:0045001 oboInOwl:hasExactSynonym "disorder of cardiac ventricle" +MONDO:0045001 oboInOwl:hasExactSynonym "cardiac ventricle disease" MONDO:0006217 oboInOwl:hasExactSynonym "gallbladder adenosquamous carcinoma" MONDO:0006217 oboInOwl:hasExactSynonym "adenosquamous gallbladder carcinoma" MONDO:0006217 oboInOwl:hasExactSynonym "adenosquamous carcinoma of gallbladder" @@ -158610,18 +160549,16 @@ MONDO:0006217 oboInOwl:hasExactSynonym "gallbladder adenosquamous cancer" MONDO:0006217 oboInOwl:hasExactSynonym "gall bladder adenosquamous carcinoma" MONDO:0012440 oboInOwl:hasExactSynonym "migraine with or without aura, susceptibility to, type 10" MONDO:0012440 oboInOwl:hasExactSynonym "migraine with or without aura, susceptibility to, 10" -MONDO:0045001 oboInOwl:hasExactSynonym "disease of cardiac ventricle" -MONDO:0045001 oboInOwl:hasExactSynonym "cardiac ventricle disease or disorder" -MONDO:0045001 oboInOwl:hasExactSynonym "disease or disorder of cardiac ventricle" -MONDO:0045001 oboInOwl:hasExactSynonym "disorder of cardiac ventricle" -MONDO:0045001 oboInOwl:hasExactSynonym "cardiac ventricle disease" MONDO:0008647 oboInOwl:hasExactSynonym "CMH1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008647 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 1" +MONDO:0008647 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant" MONDO:0008647 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, type 1" MONDO:0008647 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic 1" MONDO:0008647 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy caused by mutation in MYH7" +MONDO:0008647 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant" MONDO:0008647 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy 1" MONDO:0008647 oboInOwl:hasExactSynonym "MYH7 hypertrophic cardiomyopathy" +MONDO:0008647 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant" MONDO:0009158 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome type 10" MONDO:0009158 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality" MONDO:0009158 oboInOwl:hasExactSynonym "EDS X" @@ -158636,6 +160573,7 @@ MONDO:0012507 oboInOwl:hasExactSynonym "CACNA2D4 cone dystrophy" MONDO:0017607 oboInOwl:hasExactSynonym "sacral regression syndrome" MONDO:0017607 oboInOwl:hasExactSynonym "caudal dysplasia" MONDO:0017607 oboInOwl:hasExactSynonym "sacral agenesis syndrome" +MONDO:0012896 oboInOwl:hasExactSynonym "psoriasis susceptibility 10" MONDO:0012896 oboInOwl:hasExactSynonym "psoriasis 10, susceptibility to" MONDO:0012896 oboInOwl:hasExactSynonym "PSORS10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0021033 oboInOwl:hasExactSynonym "herpes zoster dermatitis" @@ -158680,6 +160618,7 @@ MONDO:0000276 oboInOwl:hasExactSynonym "powassan encephalitis virus infection" MONDO:0000276 oboInOwl:hasExactSynonym "Powassan virus disease or disorder" MONDO:0022435 oboInOwl:hasExactSynonym "Mauriac syndrome" MONDO:0022435 oboInOwl:hasExactSynonym "Mauriac's syndrome" +MONDO:0010326 oboInOwl:hasExactSynonym "mental retardation, X-linked 46, X-linked recessive" MONDO:0010326 oboInOwl:hasExactSynonym "intellectual disability, X-linked 46" MONDO:0010326 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 46" MONDO:0010326 oboInOwl:hasExactSynonym "ARHGEF6 non-syndromic X-linked intellectual disability" @@ -158709,6 +160648,7 @@ CL:0000508 oboInOwl:hasExactSynonym "G cell" MONDO:0009587 oboInOwl:hasExactSynonym "mesoaxial hexadactyly and cardiac malformation" GO:0008527 oboInOwl:hasExactSynonym "gustatory receptor" MONDO:0060763 oboInOwl:hasExactSynonym "BCL11B-related BAFopathy" +MONDO:0060763 oboInOwl:hasExactSynonym "intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities" MONDO:0056819 oboInOwl:hasExactSynonym "nasal cavity and paranasal sinus carcinoma" MONDO:0056819 oboInOwl:hasExactSynonym "nasal cavity and paranasal sinus cancer" MONDO:0056819 oboInOwl:hasExactSynonym "sinonasal carcinoma" @@ -158751,6 +160691,7 @@ MONDO:0024480 oboInOwl:hasExactSynonym "dermatosis of eyelid" MONDO:0007682 oboInOwl:hasExactSynonym "granddad syndrome" MONDO:0011954 oboInOwl:hasExactSynonym "CMM4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011954 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, susceptibility to, 4" +MONDO:0011954 oboInOwl:hasExactSynonym "melanoma, cutaneous malignant, 4" MONDO:0007511 oboInOwl:hasExactSynonym "ectodermal dysplasia, trichoodontoonychial type" GO:0044238 oboInOwl:hasExactSynonym "primary metabolism" CHEBI:32863 oboInOwl:hasExactSynonym "secondary amines" @@ -158788,6 +160729,7 @@ HP:0004905 oboInOwl:hasExactSynonym "Vitamin A deficiency" http://purl.obolibrar MONDO:0007847 oboInOwl:hasExactSynonym "keloid formation" MONDO:0009008 oboInOwl:hasExactSynonym "Ostravik-Lindemann-Solberg syndrome" MONDO:0009008 oboInOwl:hasExactSynonym "heart defect - tongue hamartoma - polysyndactyly syndrome" +MONDO:0030937 oboInOwl:hasExactSynonym "mitochondrial complex II deficiency, nuclear type 3" MONDO:0030937 oboInOwl:hasExactSynonym "mitochondrial complex 2 deficiency, nuclear type 3" MONDO:0030937 oboInOwl:hasExactSynonym "MC2DN3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012043 oboInOwl:hasExactSynonym "geographic corneal dystrophy" @@ -158806,8 +160748,8 @@ MONDO:0011273 oboInOwl:hasExactSynonym "Asrar Facharzt Haque syndrome" MONDO:0008292 oboInOwl:hasExactSynonym "punctate palmoplantar hyperkeratosis type 2" MONDO:0008292 oboInOwl:hasExactSynonym "PPPP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008292 oboInOwl:hasExactSynonym "PPKP2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0020782 oboInOwl:hasExactSynonym "chronic gingivitis" MONDO:0010105 oboInOwl:hasExactSynonym "teratoma, pineal" +MONDO:0020782 oboInOwl:hasExactSynonym "chronic gingivitis" MONDO:0011663 oboInOwl:hasExactSynonym "juvenile PLS" MONDO:0011663 oboInOwl:hasExactSynonym "JPLS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007095 oboInOwl:hasExactSynonym "ameloonychohypohidrotic syndrome" @@ -158830,6 +160772,7 @@ MONDO:0004507 oboInOwl:hasExactSynonym "atypical breast papilloma" GO:1903650 oboInOwl:hasExactSynonym "down-regulation of cytoplasmic transport" GO:1903650 oboInOwl:hasExactSynonym "down regulation of cytoplasmic transport" GO:1903650 oboInOwl:hasExactSynonym "downregulation of cytoplasmic transport" +MONDO:0010261 oboInOwl:hasExactSynonym "microphthalmia, syndromic 2, X-linked dominant" MONDO:0010261 oboInOwl:hasExactSynonym "microphthalmia syndromic 2" MONDO:0010261 oboInOwl:hasExactSynonym "oculofaciocardiodental syndrome" MONDO:0010261 oboInOwl:hasExactSynonym "microphthalmia, syndromic type 2" @@ -158850,6 +160793,7 @@ MONDO:0004917 oboInOwl:hasExactSynonym "tarsal gland hordeolum" MONDO:0004917 oboInOwl:hasExactSynonym "internal hordeolum" MONDO:0004917 oboInOwl:hasExactSynonym "hordeolum of tarsal gland" MONDO:0010328 oboInOwl:hasExactSynonym "acquired HbH disease" +MONDO:0010328 oboInOwl:hasExactSynonym "alpha-thalassemia myelodysplasia syndrome, somatic" MONDO:0010328 oboInOwl:hasExactSynonym "acquired hemoglobin H disease" MONDO:0010328 oboInOwl:hasExactSynonym "ATMDS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015428 oboInOwl:hasExactSynonym "regional choroidal atrophy and alopecia" @@ -158880,9 +160824,6 @@ GO:0019853 oboInOwl:hasExactSynonym "ascorbate biosynthesis" MONDO:0007114 oboInOwl:hasExactSynonym "ASPED" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016032 oboInOwl:hasExactSynonym "congenital short femur" MONDO:0016032 oboInOwl:hasExactSynonym "femoral intercalary meromelia" -MONDO:0019549 oboInOwl:hasExactSynonym "SEOAN due to MFN2 deficiency" -MONDO:0019549 oboInOwl:hasExactSynonym "AR-CMT2, Ouvrier type" -MONDO:0019549 oboInOwl:hasExactSynonym "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type" MONDO:0018485 oboInOwl:hasExactSynonym "GSD type II, late onset" MONDO:0018485 oboInOwl:hasExactSynonym "GSD due to acid maltase deficiency, late-onset" MONDO:0018485 oboInOwl:hasExactSynonym "Alpha-1,4-glucosidase acid deficiency, late-onset" @@ -158904,6 +160845,9 @@ MONDO:0018485 oboInOwl:hasExactSynonym "GSD type 2, late onset" MONDO:0010515 oboInOwl:hasExactSynonym "Meester-Loeys syndrome; MRLS" MONDO:0010515 oboInOwl:hasExactSynonym "Meester-Loeys syndrome" MONDO:0010515 oboInOwl:hasExactSynonym "MRLS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0019549 oboInOwl:hasExactSynonym "SEOAN due to MFN2 deficiency" +MONDO:0019549 oboInOwl:hasExactSynonym "AR-CMT2, Ouvrier type" +MONDO:0019549 oboInOwl:hasExactSynonym "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type" MONDO:0018875 oboInOwl:hasExactSynonym "SBLA syndrome" MONDO:0018875 oboInOwl:hasExactSynonym "Li-Fraumeni familial cancer susceptibility syndrome" MONDO:0018875 oboInOwl:hasExactSynonym "sarcoma, breast, leukaemia and adrenal gland syndrome" @@ -158938,6 +160882,7 @@ MONDO:0015273 oboInOwl:hasExactSynonym "CAVC" http://purl.obolibrary.org/obo/mon MONDO:0015273 oboInOwl:hasExactSynonym "common atrioventricular canal" MONDO:0015273 oboInOwl:hasExactSynonym "complete atrioventricular septal defect" MONDO:0011956 oboInOwl:hasExactSynonym "autism, susceptibility to, 3" +MONDO:0011956 oboInOwl:hasExactSynonym "autism susceptibility 3, isolated cases" MONDO:0011956 oboInOwl:hasExactSynonym "AUTS3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0024458 oboInOwl:hasExactSynonym "disease or disorder of visual system" MONDO:0024458 oboInOwl:hasExactSynonym "disease of visual system" @@ -158946,13 +160891,16 @@ MONDO:0024458 oboInOwl:hasExactSynonym "visual system disease or disorder" MONDO:0024458 oboInOwl:hasExactSynonym "disorder of visual system" MONDO:0024458 oboInOwl:hasExactSynonym "visual system disease" MONDO:0009282 oboInOwl:hasExactSynonym "glutaric acidemia type 2" +MONDO:0009282 oboInOwl:hasExactSynonym "glutaric acidemia IIA" MONDO:0009282 oboInOwl:hasExactSynonym "glutaric aciduria, type 2" MONDO:0009282 oboInOwl:hasExactSynonym "multiple acyl Coenzyme A dehydrogenase deficiency" MONDO:0009282 oboInOwl:hasExactSynonym "glutaric acidemia type II" MONDO:0009282 oboInOwl:hasExactSynonym "multiple acyl-CoA dehydrogenase deficiency" MONDO:0009282 oboInOwl:hasExactSynonym "electron transfer flavoprotein deficiency" MONDO:0009282 oboInOwl:hasExactSynonym "MADD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009282 oboInOwl:hasExactSynonym "glutaric acidemia IIB" MONDO:0009282 oboInOwl:hasExactSynonym "electron transfer flavoprotein ubiquinone oxidoreductase deficiency" +MONDO:0009282 oboInOwl:hasExactSynonym "glutaric acidemia IIC" MONDO:0009282 oboInOwl:hasExactSynonym "glutaric aciduria type 2" MONDO:0009282 oboInOwl:hasExactSynonym "MAD deficiency" MONDO:0003397 oboInOwl:hasExactSynonym "hypertrophy of gingivae" @@ -158975,8 +160923,8 @@ MONDO:0007284 oboInOwl:hasExactSynonym "CTRCT20" http://purl.obolibrary.org/obo/ MONDO:0005668 oboInOwl:hasExactSynonym "pigeon-breeder's lung" MONDO:0005668 oboInOwl:hasExactSynonym "pigeon breeder's lung" MONDO:0005668 oboInOwl:hasExactSynonym "pigeon-breeder lung disease" -MONDO:0005668 oboInOwl:hasExactSynonym "Avian hypersensitivity pneumonitis" MONDO:0005668 oboInOwl:hasExactSynonym "bird fancier lung" +MONDO:0005668 oboInOwl:hasExactSynonym "Avian hypersensitivity pneumonitis" MONDO:0005668 oboInOwl:hasExactSynonym "bird breeder's lung" MONDO:0005668 oboInOwl:hasExactSynonym "bird-fanciers' lung" MONDO:0005668 oboInOwl:hasExactSynonym "bird-fancier's lung" @@ -159033,6 +160981,7 @@ MONDO:0014717 oboInOwl:hasExactSynonym "epilepsy, progressive myoclonic, type 10 MONDO:0014717 oboInOwl:hasExactSynonym "EPM10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010496 oboInOwl:hasExactSynonym "mental retardation, X-linked type 12" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010496 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 12" +MONDO:0010496 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 12, X-linked recessive" MONDO:0020561 oboInOwl:hasExactSynonym "MRCLS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003763 oboInOwl:hasExactSynonym "traumatic stress disorder" MONDO:0003763 oboInOwl:hasExactSynonym "acute stress reaction" @@ -159054,6 +161003,7 @@ MONDO:0014394 oboInOwl:hasExactSynonym "RPS29 Diamond-Blackfan anemia" MONDO:0013140 oboInOwl:hasExactSynonym "candidiasis, familial, 4" MONDO:0013140 oboInOwl:hasExactSynonym "candidiasis, familial, type 4" MONDO:0013140 oboInOwl:hasExactSynonym "CLEC7A familial chronic mucocutaneous candidiasis" +MONDO:0013140 oboInOwl:hasExactSynonym "candidiasis, familial, 4, autosomal recessive" MONDO:0013140 oboInOwl:hasExactSynonym "familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A" MONDO:0004509 oboInOwl:hasExactSynonym "intrahepatic bile duct papillomatosis" MONDO:0004509 oboInOwl:hasExactSynonym "intrahepatic bile duct papillary neoplasm" @@ -159077,11 +161027,13 @@ MONDO:0007542 oboInOwl:hasExactSynonym "Engelman's disease" MONDO:0007542 oboInOwl:hasExactSynonym "diaphyseal dysplasia" MONDO:0007542 oboInOwl:hasExactSynonym "Camurati-Engelmann syndrome" MONDO:0007542 oboInOwl:hasExactSynonym "Camurati-Engelmann disease" +MONDO:0031010 oboInOwl:hasExactSynonym "ondontochondrodysplasia 2 with hearing loss and diabetes" MONDO:0031010 oboInOwl:hasExactSynonym "ODCD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011958 oboInOwl:hasExactSynonym "bile and pancreatic ducts, complete absence of" MONDO:0003950 oboInOwl:hasExactSynonym "nipple cancer" MONDO:0003950 oboInOwl:hasExactSynonym "nipple carcinoma" MONDO:0003950 oboInOwl:hasExactSynonym "carcinoma of nipple" +MONDO:0012904 oboInOwl:hasExactSynonym "epilepsy, progressive myoclonic 1B" MONDO:0012904 oboInOwl:hasExactSynonym "epilepsy, progressive myoclonic, type 1B" MONDO:0012904 oboInOwl:hasExactSynonym "epilepsy, progressive myoclonic, 1B" MONDO:0012904 oboInOwl:hasExactSynonym "progressive myoclonic epilepsy caused by mutation in PRICKLE1" @@ -159137,6 +161089,7 @@ MONDO:0012245 oboInOwl:hasExactSynonym "DEE3" http://purl.obolibrary.org/obo/mon MONDO:0012245 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 3" MONDO:0012245 oboInOwl:hasExactSynonym "SLC25A22 early infantile epileptic encephalopathy" MONDO:0012245 oboInOwl:hasExactSynonym "EIEE3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012245 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 3" MONDO:0043953 oboInOwl:hasExactSynonym "burkholderia infectious disease" MONDO:0043953 oboInOwl:hasExactSynonym "Burkholderia caused disease or disorder" MONDO:0043953 oboInOwl:hasExactSynonym "Burkholderia disease or disorder" @@ -159150,8 +161103,8 @@ MONDO:0033044 oboInOwl:hasExactSynonym "Meckel syndrome, type 13" MONDO:0019010 oboInOwl:hasExactSynonym "persistent hyperinsulinemic hypoglycemia of infancy" MONDO:0019010 oboInOwl:hasExactSynonym "PHHI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019010 oboInOwl:hasExactSynonym "chi" -MONDO:0001016 oboInOwl:hasExactSynonym "malignant epididymis neoplasm" MONDO:0001016 oboInOwl:hasExactSynonym "malignant epididymal neoplasm" +MONDO:0001016 oboInOwl:hasExactSynonym "malignant epididymis neoplasm" MONDO:0001016 oboInOwl:hasExactSynonym "cancer of epididymis" MONDO:0001016 oboInOwl:hasExactSynonym "epididymis cancer" MONDO:0001016 oboInOwl:hasExactSynonym "malignant epididymal tumor" @@ -159206,22 +161159,24 @@ MONDO:0007145 oboInOwl:hasExactSynonym "aplasia cutis congenita" MONDO:0017942 oboInOwl:hasExactSynonym "Hendra henipavirus caused disease or disorder" MONDO:0017942 oboInOwl:hasExactSynonym "Hendra henipavirus infectious disease" MONDO:0017942 oboInOwl:hasExactSynonym "Hendra henipavirus disease or disorder" -MONDO:0005833 oboInOwl:hasExactSynonym "disorder of lymph node and lymphatics" MONDO:0005833 oboInOwl:hasExactSynonym "disorder of lymphatic system" -MONDO:0005833 oboInOwl:hasExactSynonym "swollen glands" +MONDO:0005833 oboInOwl:hasExactSynonym "disease or disorder of lymphatic part of lymphoid system" +MONDO:0005833 oboInOwl:hasExactSynonym "lymphatic part of lymphoid system disease or disorder" +MONDO:0005833 oboInOwl:hasExactSynonym "disorder of lymph node and lymphatics" MONDO:0005833 oboInOwl:hasExactSynonym "disorder of lymphatic part of lymphoid system" MONDO:0005833 oboInOwl:hasExactSynonym "lymphatic disease" -MONDO:0005833 oboInOwl:hasExactSynonym "swollen gland" -MONDO:0005833 oboInOwl:hasExactSynonym "disease of lymphatic part of lymphoid system" -MONDO:0005833 oboInOwl:hasExactSynonym "lymphatic part of lymphoid system disease" -MONDO:0005833 oboInOwl:hasExactSynonym "disease or disorder of lymphatic part of lymphoid system" MONDO:0005833 oboInOwl:hasExactSynonym "glands, swollen" -MONDO:0005833 oboInOwl:hasExactSynonym "lymphatic part of lymphoid system disease or disorder" +MONDO:0005833 oboInOwl:hasExactSynonym "lymphatic part of lymphoid system disease" +MONDO:0005833 oboInOwl:hasExactSynonym "disease of lymphatic part of lymphoid system" +MONDO:0005833 oboInOwl:hasExactSynonym "swollen glands" +MONDO:0005833 oboInOwl:hasExactSynonym "swollen gland" MONDO:0005833 oboInOwl:hasExactSynonym "lymphatic disorder" MONDO:0011369 oboInOwl:hasExactSynonym "familial hypercholesterolemia caused by mutation in PCSK9" +MONDO:0011369 oboInOwl:hasExactSynonym "hypercholesterolemia, familial, 3" MONDO:0011369 oboInOwl:hasExactSynonym "PCSK9 familial hypercholesterolemia" MONDO:0011369 oboInOwl:hasExactSynonym "hypercholesterolemia, autosomal dominant, type 3" MONDO:0011369 oboInOwl:hasExactSynonym "hypercholesterolemia, autosomal dominant, 3" +MONDO:0011369 oboInOwl:hasExactSynonym "low density lipoprotein cholesterol level QTL 1" HP:0004363 oboInOwl:hasExactSynonym "Abnormal circulating Ca2+ concentration" http://purl.obolibrary.org/obo/hp.obo#abbreviation HP:0004363 oboInOwl:hasExactSynonym "Abnormal blood calcium concentration" HP:0004363 oboInOwl:hasExactSynonym "Abnormal circulating Ca concentration" http://purl.obolibrary.org/obo/hp.obo#abbreviation @@ -159389,6 +161344,7 @@ MONDO:0010945 oboInOwl:hasExactSynonym "retinitis pigmentosa 17" MONDO:0010945 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation in CA4" MONDO:0013851 oboInOwl:hasExactSynonym "autosomal dominant aplastic anemia and myelodysplasia" MONDO:0013851 oboInOwl:hasExactSynonym "bone marrow failure syndrome type 1" +MONDO:0020611 oboInOwl:hasExactSynonym "blood group, Kell" MONDO:0004970 oboInOwl:hasExactSynonym "adenocarcinoma, malignant" MONDO:0004970 oboInOwl:hasExactSynonym "adenocarcinoma NOS (morphologic abnormality)" MONDO:0004970 oboInOwl:hasExactSynonym "adenocarcinoma, no subtype (morphologic abnormality)" @@ -159404,6 +161360,7 @@ MONDO:0007798 oboInOwl:hasExactSynonym "hypophosphatasia of adults" MONDO:0007798 oboInOwl:hasExactSynonym "obsolete adult hypophosphatasia" MONDO:0007798 oboInOwl:hasExactSynonym "adult Rathburn disease" MONDO:0009354 oboInOwl:hasExactSynonym "methylcobalamin deficiency type cblE" +MONDO:0009354 oboInOwl:hasExactSynonym "homocystinuria-megaloblastic anemia, cbl e type" MONDO:0009354 oboInOwl:hasExactSynonym "functional methionine synthase deficiency type cblE" MONDO:0012703 oboInOwl:hasExactSynonym "lissencephaly type 3" ENVO:00002149 oboInOwl:hasExactSynonym "seawater" @@ -159415,8 +161372,9 @@ MONDO:0004196 oboInOwl:hasExactSynonym "rectal sarcomatoid carcinoma" MONDO:0004196 oboInOwl:hasExactSynonym "sarcomatoid carcinoma of the rectum" MONDO:0004196 oboInOwl:hasExactSynonym "rectum sarcomatoid carcinoma" MONDO:0004196 oboInOwl:hasExactSynonym "rectal spindle cell carcinoma" -MONDO:0009557 oboInOwl:hasExactSynonym "mandibuloacral dysplasia with type A lipodystrophy" MONDO:0004586 oboInOwl:hasExactSynonym "rheumatoid lung" +MONDO:0009557 oboInOwl:hasExactSynonym "mandibuloacral dysplasia" +MONDO:0009557 oboInOwl:hasExactSynonym "mandibuloacral dysplasia with type A lipodystrophy" MONDO:0002152 oboInOwl:hasExactSynonym "intermittent heterotropia" MONDO:0009733 oboInOwl:hasExactSynonym "nephrotic syndrome, type 4" MONDO:0009733 oboInOwl:hasExactSynonym "nephrotic syndrome caused by mutation in WT1" @@ -159428,6 +161386,7 @@ MONDO:0010522 oboInOwl:hasExactSynonym "AIH3" http://purl.obolibrary.org/obo/mon MONDO:0010522 oboInOwl:hasExactSynonym "X-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2" MONDO:0010522 oboInOwl:hasExactSynonym "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked type 2" MONDO:0010522 oboInOwl:hasExactSynonym "amelogenesis imperfecta type IE X-linked 2" +MONDO:0010522 oboInOwl:hasExactSynonym "amelogenesis imperfecta, type IE, X-linked 2" MONDO:0010522 oboInOwl:hasExactSynonym "amelogenesis imperfecta 3 hypoplastic type" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0012591 oboInOwl:hasExactSynonym "osteogenesis imperfecta type V" MONDO:0012591 oboInOwl:hasExactSynonym "osteogenesis imperfecta caused by mutation in IFITM5" @@ -159440,6 +161399,7 @@ MONDO:0041850 oboInOwl:hasExactSynonym "pneumonia due to gram negative bacteria" MONDO:0024615 oboInOwl:hasExactSynonym "T-cell neoplasm" MONDO:0024615 oboInOwl:hasExactSynonym "T-cell and NK-cell neoplasm" MONDO:0009087 oboInOwl:hasExactSynonym "deafness, neural, congenital moderate" +MONDO:0007817 oboInOwl:hasExactSynonym "IgE, elevated level of" MONDO:0007817 oboInOwl:hasExactSynonym "type I immediate hypersensitivity reaction" MONDO:0007817 oboInOwl:hasExactSynonym "type 1 hypersensitivity reaction" MONDO:0007817 oboInOwl:hasExactSynonym "immediate hypersensitivity" @@ -159492,6 +161452,7 @@ MONDO:0011430 oboInOwl:hasExactSynonym "pulverulent cataract" MONDO:0011430 oboInOwl:hasExactSynonym "Coppock-like cataract" MONDO:0011430 oboInOwl:hasExactSynonym "dusty cataract" MONDO:0015976 oboInOwl:hasExactSynonym "HIGM without susceptibility to opportunistic infections" +MONDO:0013630 oboInOwl:hasExactSynonym "meckel syndrome 9" MONDO:0013630 oboInOwl:hasExactSynonym "Meckel syndrome, type 9" MONDO:0013630 oboInOwl:hasExactSynonym "Meckel syndrome caused by mutation in B9D1" MONDO:0013630 oboInOwl:hasExactSynonym "B9D1 Meckel syndrome" @@ -159555,6 +161516,7 @@ CHEBI:57869 oboInOwl:hasExactSynonym "6-azaniumyl-2,2-dimethylpenam-3alpha-carbo MONDO:0044874 oboInOwl:hasExactSynonym "refractory cytopenia of childhood" MONDO:0044874 oboInOwl:hasExactSynonym "RCC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP:0012535 oboInOwl:hasExactSynonym "Abnormality of neurotransmitter metabolism" +MONDO:0013277 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 5" MONDO:0013277 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in SPTAN1" MONDO:0013277 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 5" MONDO:0013277 oboInOwl:hasExactSynonym "EIEE5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -159580,6 +161542,7 @@ MONDO:0013453 oboInOwl:hasExactSynonym "Leber congenital amaurosis 8" MONDO:0013453 oboInOwl:hasExactSynonym "Leber congenital amaurosis caused by mutation in CRB1" MONDO:0016369 oboInOwl:hasExactSynonym "RTS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016369 oboInOwl:hasExactSynonym "poikiloderma of Rothmund-Thomson type 2" +MONDO:0016369 oboInOwl:hasExactSynonym "Rothmund-Thomson syndrome, type 2" MONDO:0017443 oboInOwl:hasExactSynonym "radio-ulnar terminal transverse meromelia" MONDO:0005459 oboInOwl:hasExactSynonym "African trypanosomiasis" MONDO:0005459 oboInOwl:hasExactSynonym "African sleeping sickness" @@ -159609,12 +161572,14 @@ MONDO:0016684 oboInOwl:hasExactSynonym "malignant astrocytoma" MONDO:0016684 oboInOwl:hasExactSynonym "grade III astrocytoma" MONDO:0032745 oboInOwl:hasExactSynonym "developmental delay with variable intellectual impairment and behavioral abnormalities" MONDO:0008648 oboInOwl:hasExactSynonym "ventricular tachycardia, familial" +MONDO:0008648 oboInOwl:hasExactSynonym "ventricular tachycardia, idiopathic" MONDO:0008648 oboInOwl:hasExactSynonym "hereditary ventricular tachycardia" MONDO:0017630 oboInOwl:hasExactSynonym "SPG1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CL:0009042 oboInOwl:hasExactSynonym "colon enteroendocrine cell" MONDO:0009159 oboInOwl:hasExactSynonym "EDS, cardiac valvular type" MONDO:0001916 oboInOwl:hasExactSynonym "intestinal tularaemia" MONDO:0001916 oboInOwl:hasExactSynonym "enteric tularemia" +MONDO:0007819 oboInOwl:hasExactSynonym "single median maxillary central incisor" MONDO:0007819 oboInOwl:hasExactSynonym "solitary median maxillary central incisor syndrome" MONDO:0007819 oboInOwl:hasExactSynonym "single upper central incisor" MONDO:0007819 oboInOwl:hasExactSynonym "SMMCI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -159633,6 +161598,7 @@ MONDO:0016892 oboInOwl:hasExactSynonym "partial deletion of the short arm of chr MONDO:0016892 oboInOwl:hasExactSynonym "partial monosomy of chromosome 10p" MONDO:0021034 oboInOwl:hasExactSynonym "genetic alopecia" MONDO:0060764 oboInOwl:hasExactSynonym "tetraamelia syndrome 1" +MONDO:0060764 oboInOwl:hasExactSynonym "Tetra-amelia syndrome 1" MONDO:0003879 oboInOwl:hasExactSynonym "ovarian endometrioid malignant adenofibroma" MONDO:0003879 oboInOwl:hasExactSynonym "ovarian endometrioid adenocarcinofibroma" MONDO:0021424 oboInOwl:hasExactSynonym "zone of skin hemangiopericytoma" @@ -159691,6 +161657,7 @@ MONDO:0002848 oboInOwl:hasExactSynonym "skeletal muscle neoplasm" MONDO:0002848 oboInOwl:hasExactSynonym "tumor of the skeletal muscle" MONDO:0009588 oboInOwl:hasExactSynonym "Langer syndrome" MONDO:0009588 oboInOwl:hasExactSynonym "mesomelic dwarfism, Langer type" +MONDO:0009588 oboInOwl:hasExactSynonym "langer mesomelic dysplasia, pseudoautosomal recessive" MONDO:0009588 oboInOwl:hasExactSynonym "Langer mesomelic dysplasia" MONDO:0009588 oboInOwl:hasExactSynonym "Langer type mesomelic dysplasia" MONDO:0004081 oboInOwl:hasExactSynonym "extrahepatic bile duct clear cell adenocarcinoma" @@ -159717,6 +161684,8 @@ MONDO:0016558 oboInOwl:hasExactSynonym "familial congenital mirror movements" MONDO:0016558 oboInOwl:hasExactSynonym "isolated congenital controlateral synkinesia" MONDO:0016558 oboInOwl:hasExactSynonym "hereditary congenital controlateral synkinesia" MONDO:0016558 oboInOwl:hasExactSynonym "familial congenital controlateral synkinesia" +MONDO:0033547 oboInOwl:hasExactSynonym "Li-Ghorgani-Weisz-Hubshman syndrome" +MONDO:0014458 oboInOwl:hasExactSynonym "fanconi renotubular syndrome 4, with maturity-onset diabetes of the young" MONDO:0014458 oboInOwl:hasExactSynonym "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" MONDO:0014458 oboInOwl:hasExactSynonym "HNF4A Fanconi syndrome" MONDO:0014458 oboInOwl:hasExactSynonym "Fanconi syndrome caused by mutation in HNF4A" @@ -159762,6 +161731,7 @@ MONDO:0009031 oboInOwl:hasExactSynonym "Lionitis" MONDO:0009031 oboInOwl:hasExactSynonym "craniodiaphyseal dysplasia" MONDO:0010329 oboInOwl:hasExactSynonym "MRX77" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010329 oboInOwl:hasExactSynonym "intellectual disability, X-linked 77" +MONDO:0010329 oboInOwl:hasExactSynonym "mental retardation, X-linked 77, X-linked recessive" MONDO:0017045 oboInOwl:hasExactSynonym "Oerter-Friedman-Anderson syndrome" MONDO:0015429 oboInOwl:hasExactSynonym "CHM-hypopituitarism syndrome" MONDO:0045002 oboInOwl:hasExactSynonym "vertebra disease" @@ -159794,11 +161764,13 @@ CHEBI:46965 oboInOwl:hasExactSynonym "(2R,3S)-2-aminooctadec-4-ene-1,3-diol" MONDO:0012897 oboInOwl:hasExactSynonym "hereditary factor XI deficiency disease" MONDO:0012897 oboInOwl:hasExactSynonym "hemophilia C" MONDO:0012897 oboInOwl:hasExactSynonym "plasma thromboplastin antecedent deficiency" +MONDO:0012897 oboInOwl:hasExactSynonym "factor XI deficiency, autosomal recessive" MONDO:0012897 oboInOwl:hasExactSynonym "hereditary factor XI deficiency" MONDO:0012897 oboInOwl:hasExactSynonym "Rosenthal factor deficiency" MONDO:0012897 oboInOwl:hasExactSynonym "PTA deficiency" MONDO:0012897 oboInOwl:hasExactSynonym "Rosenthal's disease" MONDO:0012897 oboInOwl:hasExactSynonym "hereditary Factor XI deficiency" +MONDO:0012897 oboInOwl:hasExactSynonym "factor XI deficiency, autosomal dominant" MONDO:0012897 oboInOwl:hasExactSynonym "Rosenthal syndrome" MONDO:0012897 oboInOwl:hasExactSynonym "congenital factor XI deficiency" MONDO:0013843 oboInOwl:hasExactSynonym "meconium ileus due to guanylate cyclase 2C deficiency" @@ -159821,6 +161793,7 @@ MONDO:0016033 oboInOwl:hasExactSynonym "Brachmann-de Lange syndrome" MONDO:0010516 oboInOwl:hasExactSynonym "MFHIEN" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010516 oboInOwl:hasExactSynonym "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis" MONDO:0010516 oboInOwl:hasExactSynonym "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN" +MONDO:0010516 oboInOwl:hasExactSynonym "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, X-linked recessive" GO:1903651 oboInOwl:hasExactSynonym "up-regulation of cytoplasmic transport" GO:1903651 oboInOwl:hasExactSynonym "upregulation of cytoplasmic transport" GO:1903651 oboInOwl:hasExactSynonym "up regulation of cytoplasmic transport" @@ -159835,6 +161808,7 @@ HP:0002584 oboInOwl:hasExactSynonym "Intestinal haemorrhage" http://purl.obolibr MONDO:0011547 oboInOwl:hasExactSynonym "CTRCT31" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011547 oboInOwl:hasExactSynonym "CHMP4B early-onset non-syndromic cataract" MONDO:0011547 oboInOwl:hasExactSynonym "early-onset non-syndromic cataract caused by mutation in CHMP4B" +MONDO:0021309 oboInOwl:hasExactSynonym "malignant tumor of the endocervix" MONDO:0021309 oboInOwl:hasExactSynonym "malignant endocervix tumor" MONDO:0021309 oboInOwl:hasExactSynonym "malignant endocervical tumor" MONDO:0021309 oboInOwl:hasExactSynonym "malignant tumor of endocervix" @@ -159850,7 +161824,6 @@ MONDO:0021309 oboInOwl:hasExactSynonym "malignant neoplasm of endocervix" MONDO:0021309 oboInOwl:hasExactSynonym "malignant uterine endocervix tumor" MONDO:0021309 oboInOwl:hasExactSynonym "malignant endocervical neoplasm" MONDO:0021309 oboInOwl:hasExactSynonym "malignant tumor of uterine endocervix" -MONDO:0021309 oboInOwl:hasExactSynonym "malignant tumor of the endocervix" HP:0012210 oboInOwl:hasExactSynonym "Abnormal kidney morphology" HP:0012210 oboInOwl:hasExactSynonym "Kidney structure issue" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0012210 oboInOwl:hasExactSynonym "Structural anomalies of the renal tract" @@ -159869,6 +161842,7 @@ MONDO:0013479 oboInOwl:hasExactSynonym "BAG3 familial isolated dilated cardiomyo MONDO:0013479 oboInOwl:hasExactSynonym "CMD1HH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013479 oboInOwl:hasExactSynonym "familial isolated dilated cardiomyopathy caused by mutation in BAG3" MONDO:0013479 oboInOwl:hasExactSynonym "dilated cardiomyopathy type 1HH" +MONDO:0014425 oboInOwl:hasExactSynonym "hereditary persistence of alpha-fetoprotein" MONDO:0012151 oboInOwl:hasExactSynonym "attention Deficit-hyperactivity disorder, susceptibility to, type 3" MONDO:0012151 oboInOwl:hasExactSynonym "attention deficit-hyperactivity disorder, susceptibility to, 3" MONDO:0007115 oboInOwl:hasExactSynonym "angioma serpiginosum, autosomal dominant" @@ -159900,6 +161874,7 @@ MONDO:0009096 oboInOwl:hasExactSynonym "familial progressive subcortical gliosis MONDO:0009096 oboInOwl:hasExactSynonym "hereditary diffuse leukoencephalopathy with spheroids" MONDO:0009096 oboInOwl:hasExactSynonym "GPSC" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009096 oboInOwl:hasExactSynonym "FPSG" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0009096 oboInOwl:hasExactSynonym "leukoencephalopathy, diffuse hereditary, with spheroids 1" MONDO:0009096 oboInOwl:hasExactSynonym "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" MONDO:0009096 oboInOwl:hasExactSynonym "POLD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009096 oboInOwl:hasExactSynonym "ALSP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -159933,6 +161908,7 @@ MONDO:0014718 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantil MONDO:0014718 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in SLC12A5" MONDO:0014718 oboInOwl:hasExactSynonym "SLC12A5 early infantile epileptic encephalopathy" MONDO:0014718 oboInOwl:hasExactSynonym "DEE34" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014718 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 34" MONDO:0014718 oboInOwl:hasExactSynonym "EIEE34" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014718 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 34" MONDO:0020386 oboInOwl:hasExactSynonym "DORV with subaortic or doubly committed VSD with pulmonary stenosis" @@ -159940,6 +161916,7 @@ MONDO:0020386 oboInOwl:hasExactSynonym "DORV, Fallot type" MONDO:0020386 oboInOwl:hasExactSynonym "double outlet right ventricle, Fallot type" MONDO:0010497 oboInOwl:hasExactSynonym "intellectual disability, X-linked 102" MONDO:0010497 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 102" +MONDO:0010497 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, X-linked recessive, X-linked dominant" MONDO:0010497 oboInOwl:hasExactSynonym "mental retardation, X-linked type 102" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010497 oboInOwl:hasExactSynonym "DDX3X non-syndromic X-linked intellectual disability" MONDO:0010497 oboInOwl:hasExactSynonym "non-syndromic X-linked intellectual disability caused by mutation in DDX3X" @@ -159981,14 +161958,18 @@ MONDO:0007848 oboInOwl:hasExactSynonym "keratitis, autosomal dominant" MONDO:0030938 oboInOwl:hasExactSynonym "spermatogenic failure 52" MONDO:0030938 oboInOwl:hasExactSynonym "SPGF52" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010108 oboInOwl:hasExactSynonym "testis germ cell tumor" +MONDO:0010108 oboInOwl:hasExactSynonym "germ cell tumors, somatic" MONDO:0010108 oboInOwl:hasExactSynonym "TGCT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010108 oboInOwl:hasExactSynonym "testicular tumor, somatic" MONDO:0010108 oboInOwl:hasExactSynonym "germ cell neoplasm of the testis" MONDO:0010108 oboInOwl:hasExactSynonym "germ cell neoplasm of testis" MONDO:0010108 oboInOwl:hasExactSynonym "germ cell tumor of the testis" MONDO:0010108 oboInOwl:hasExactSynonym "testicular germ cell tumor" MONDO:0010108 oboInOwl:hasExactSynonym "germ cell tumor of testis" MONDO:0010108 oboInOwl:hasExactSynonym "testicular germ cell neoplasms" +MONDO:0010108 oboInOwl:hasExactSynonym "male germ cell tumor, somatic" MONDO:0010108 oboInOwl:hasExactSynonym "testicular germ cell neoplasm" +MONDO:0010108 oboInOwl:hasExactSynonym "spermatocytic seminoma, somatic" MONDO:0043314 oboInOwl:hasExactSynonym "aquarium granuloma" MONDO:0043314 oboInOwl:hasExactSynonym "Mycobacterium marinum caused skin disease" MONDO:0043314 oboInOwl:hasExactSynonym "fish tank granuloma" @@ -160056,9 +162037,9 @@ MONDO:0004374 oboInOwl:hasExactSynonym "adult extraosseous osteosarcoma" MONDO:0004374 oboInOwl:hasExactSynonym "extraosseous osteosarcoma of adults" MONDO:0004374 oboInOwl:hasExactSynonym "adult extraskeletal osteosarcoma" MONDO:0010954 oboInOwl:hasExactSynonym "Wiskott-Aldrich syndrome, autosomal dominant form" +MONDO:0011900 oboInOwl:hasExactSynonym "porokeratosis 4, disseminated superficial actinic" MONDO:0011900 oboInOwl:hasExactSynonym "porokeratosis 4, disseminated superficial actinic type" MONDO:0011900 oboInOwl:hasExactSynonym "POROK4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019683 oboInOwl:hasExactSynonym "synpolydactyly" MONDO:0011487 oboInOwl:hasExactSynonym "Huntington disease-like type 3" MONDO:0011487 oboInOwl:hasExactSynonym "HDL3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011487 oboInOwl:hasExactSynonym "Huntington disease-like 3" @@ -160072,6 +162053,7 @@ GO:0022835 oboInOwl:hasExactSynonym "neurotransmitter-gated channel activity" GO:0022835 oboInOwl:hasExactSynonym "extracellular substance gated channel activity" MONDO:0001993 oboInOwl:hasExactSynonym "seminal vesicle adenocarcinoma" MONDO:0012129 oboInOwl:hasExactSynonym "leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema" +MONDO:0020620 oboInOwl:hasExactSynonym "blood group, Ss" MONDO:0013687 oboInOwl:hasExactSynonym "autosomal recessive spinocerebellar ataxia type 12" MONDO:0013687 oboInOwl:hasExactSynonym "SCAR12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013687 oboInOwl:hasExactSynonym "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX" @@ -160243,6 +162225,7 @@ MONDO:0024531 oboInOwl:hasExactSynonym "tubular aggregate myopathy caused by mut HP:0009763 oboInOwl:hasExactSynonym "Limb pain" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0013852 oboInOwl:hasExactSynonym "cardiomyopathy familial hypertrophic 21" MONDO:0013852 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 21" +MONDO:0013852 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 21" MONDO:0013852 oboInOwl:hasExactSynonym "CMH21" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0098631 oboInOwl:hasExactSynonym "protein binding involved in cell adhesion" GO:0098631 oboInOwl:hasExactSynonym "cell adhesion molecule" @@ -160272,7 +162255,6 @@ GO:1905277 oboInOwl:hasExactSynonym "downregulation of epithelial tube formation MONDO:0020238 oboInOwl:hasExactSynonym "genetic vitreous-retinal disease" MONDO:0020238 oboInOwl:hasExactSynonym "genetic vitreoretinal disease" MONDO:0015881 oboInOwl:hasExactSynonym "rare gastroesophageal tumor" -NCBITaxon:11083 oboInOwl:hasExactSynonym "Flavivirus powassan" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name CL:0002101 oboInOwl:hasExactSynonym "CD38+ naive B lymphocyte" CL:0002101 oboInOwl:hasExactSynonym "CD38-positive naive B lymphocyte" CL:0002101 oboInOwl:hasExactSynonym "CD38+ naive B cell" @@ -160284,6 +162266,7 @@ MONDO:0004971 oboInOwl:hasExactSynonym "adenocystic carcinoma" MONDO:0004971 oboInOwl:hasExactSynonym "adenoid cystic carcinoma" MONDO:0004971 oboInOwl:hasExactSynonym "adenoid cystic cancer" MONDO:0004971 oboInOwl:hasExactSynonym "cylindroid adenocarcinoma" +NCBITaxon:11083 oboInOwl:hasExactSynonym "Flavivirus powassan" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name MONDO:0005613 oboInOwl:hasExactSynonym "malignant Mesonephroma" MONDO:0001017 oboInOwl:hasExactSynonym "epididymal adenocarcinoma" MONDO:0001017 oboInOwl:hasExactSynonym "adenocarcinoma of the epididymis" @@ -160339,7 +162322,9 @@ MONDO:0010946 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy type 6" MONDO:0010946 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy 6" MONDO:0010946 oboInOwl:hasExactSynonym "hypertrophic cardiomyopathy caused by mutation in PRKAG2" MONDO:0010946 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, type 6" +MONDO:0010946 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic 6" MONDO:0010523 oboInOwl:hasExactSynonym "Partington disease" +MONDO:0010523 oboInOwl:hasExactSynonym "pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive" MONDO:0010523 oboInOwl:hasExactSynonym "familial cutaneous amyloidosis" MONDO:0010523 oboInOwl:hasExactSynonym "X-linked cutaneous amyloidosis" MONDO:0010523 oboInOwl:hasExactSynonym "PDR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -160425,9 +162410,9 @@ MONDO:0007818 oboInOwl:hasExactSynonym "AD-HIES" MONDO:0007818 oboInOwl:hasExactSynonym "Buckley syndrome" MONDO:0007818 oboInOwl:hasExactSynonym "Job syndrome autosomal dominant" MONDO:0007818 oboInOwl:hasExactSynonym "autosomal dominant hyperimmunoglobulin E syndrome" -MONDO:0007818 oboInOwl:hasExactSynonym "immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist" MONDO:0007818 oboInOwl:hasExactSynonym "autosomal dominant hyper IgE syndrome" MONDO:0007818 oboInOwl:hasExactSynonym "hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant" +MONDO:0007818 oboInOwl:hasExactSynonym "immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist" MONDO:0007818 oboInOwl:hasExactSynonym "hyperimmunoglobulin E syndrome type 1" MONDO:0007818 oboInOwl:hasExactSynonym "Job's syndrome" MONDO:0007818 oboInOwl:hasExactSynonym "autosomal dominant hyper-IgE syndrome" @@ -160473,6 +162458,8 @@ MONDO:0004821 oboInOwl:hasExactSynonym "disease or disorder of nasopharynx" MONDO:0004821 oboInOwl:hasExactSynonym "disease of nasopharynx" MONDO:0014387 oboInOwl:hasExactSynonym "leukoencephalopathy, progressive, with ovarian failure" MONDO:0003448 oboInOwl:hasExactSynonym "spiradenoma" +MONDO:0020614 oboInOwl:hasExactSynonym "blood group, Auberger system" +MONDO:0020614 oboInOwl:hasExactSynonym "blood group, Lutheran system" MONDO:0013631 oboInOwl:hasExactSynonym "lung cancer susceptibility 5" MONDO:0013631 oboInOwl:hasExactSynonym "LNCR5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003624 oboInOwl:hasExactSynonym "breast carcinoma of acinar cell" @@ -160490,8 +162477,9 @@ MONDO:0003960 oboInOwl:hasExactSynonym "lung large cell neuroendocrine carcinoma MONDO:0003960 oboInOwl:hasExactSynonym "LCNEC of the lung" MONDO:0003960 oboInOwl:hasExactSynonym "pulmonary large cell neuroendocrine carcinoma" MONDO:0018000 oboInOwl:hasExactSynonym "familial thrombocytosis with transverse limb defect" -MONDO:0031003 oboInOwl:hasExactSynonym "NTCP Deficiency" +MONDO:0031003 oboInOwl:hasExactSynonym "hypercholanemia, familial 2" MONDO:0031003 oboInOwl:hasExactSynonym "FHCA2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0031003 oboInOwl:hasExactSynonym "NTCP Deficiency" ECTO:9001687 oboInOwl:hasExactSynonym "exposure to micronutrient" CL:0002062 oboInOwl:hasExactSynonym "small alveolar cells" CL:0002062 oboInOwl:hasExactSynonym "type I alveolar cells" @@ -160633,6 +162621,7 @@ MONDO:0020582 oboInOwl:hasExactSynonym "benign uterine ligament neoplasm" ENVO:3100033 oboInOwl:hasExactSynonym "water pressure" HP:0011030 oboInOwl:hasExactSynonym "Abnormality of transition element cation homeostasis" MONDO:0012914 oboInOwl:hasExactSynonym "Del(1)(q21)" +MONDO:0012914 oboInOwl:hasExactSynonym "chromosome 1q21.1 deletion syndrome, isolated cases" MONDO:0012914 oboInOwl:hasExactSynonym "1q21.1 microdeletion syndrome" MONDO:0012914 oboInOwl:hasExactSynonym "monosomy 1q21.1" SO:0000453 oboInOwl:hasExactSynonym "chromosomal transposition" @@ -160675,9 +162664,12 @@ MONDO:0011099 oboInOwl:hasExactSynonym "Navajo brainstem syndrome" MONDO:0012045 oboInOwl:hasExactSynonym "myopia 5, autosomal dominant" MONDO:0012045 oboInOwl:hasExactSynonym "MYP5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011275 oboInOwl:hasExactSynonym "acromesomelic dysplasia, Maroteaux type" +MONDO:0011275 oboInOwl:hasExactSynonym "acromesomelic dysplasia 1, Maroteaux type" +MONDO:0032675 oboInOwl:hasExactSynonym "myasthenic syndrome, congenital, 25" MONDO:0030430 oboInOwl:hasExactSynonym "SPGF56" http://purl.obolibrary.org/obo/mondo#ABBREVIATION HP:0030824 oboInOwl:hasExactSynonym "Mizuo-Nakamura phenomenon" MONDO:0024540 oboInOwl:hasExactSynonym "KCNQ1 Jervell and Lange-Nielsen syndrome" +MONDO:0024540 oboInOwl:hasExactSynonym "Jervell and Lange-Nielsen syndrome" MONDO:0024540 oboInOwl:hasExactSynonym "Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1" MONDO:0024540 oboInOwl:hasExactSynonym "Jervell and Lange-Nielsen syndrome 1" MONDO:0009986 oboInOwl:hasExactSynonym "retinopathy, pigmentary, and mental retardation" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -160693,10 +162685,11 @@ MONDO:0011001 oboInOwl:hasExactSynonym "Brugada syndrome 1" MONDO:0011001 oboInOwl:hasExactSynonym "SCN5A Brugada syndrome" MONDO:0011001 oboInOwl:hasExactSynonym "Brugada syndrome type 1" MONDO:0014224 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 38" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0014224 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 38" MONDO:0014224 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 38" MONDO:0014224 oboInOwl:hasExactSynonym "developmental delay with ASD and gait instability" -MONDO:0013454 oboInOwl:hasExactSynonym "Leber congenital amaurosis 11" MONDO:0013454 oboInOwl:hasExactSynonym "LCA11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013454 oboInOwl:hasExactSynonym "Leber congenital amaurosis 11" MONDO:0013454 oboInOwl:hasExactSynonym "Leber congenital amaurosis caused by mutation in IMPDH1" MONDO:0013454 oboInOwl:hasExactSynonym "Leber congenital amaurosis type 11" MONDO:0013454 oboInOwl:hasExactSynonym "IMPDH1 Leber congenital amaurosis" @@ -160752,6 +162745,7 @@ MONDO:0016893 oboInOwl:hasExactSynonym "partial monosomy of chromosome 11p" MONDO:0016893 oboInOwl:hasExactSynonym "partial deletion of chromosome 11p" GO:0060050 oboInOwl:hasExactSynonym "positive regulation of protein amino acid glycosylation" MONDO:0012898 oboInOwl:hasExactSynonym "NRCLP4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012898 oboInOwl:hasExactSynonym "narcolepsy 4" MONDO:0012898 oboInOwl:hasExactSynonym "narcolepsy 4, susceptibility to" MONDO:0013844 oboInOwl:hasExactSynonym "STUT4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013844 oboInOwl:hasExactSynonym "stuttering, familial persistent, 4" @@ -160769,11 +162763,11 @@ MONDO:0021427 oboInOwl:hasExactSynonym "lip squamous cell carcinoma" MONDO:0021427 oboInOwl:hasExactSynonym "scc of Lip" MONDO:0021427 oboInOwl:hasExactSynonym "scc of the Lip" MONDO:0016034 oboInOwl:hasExactSynonym "Tessier cleft number 1,2" -MONDO:0005828 oboInOwl:hasExactSynonym "Listeria monocytogenes infectious disease" +MONDO:0005828 oboInOwl:hasExactSynonym "infection by Listeria monocytogenes" +MONDO:0005828 oboInOwl:hasExactSynonym "Listeria infection" MONDO:0005828 oboInOwl:hasExactSynonym "Listeria monocytogenes disease or disorder" +MONDO:0005828 oboInOwl:hasExactSynonym "Listeria monocytogenes infectious disease" MONDO:0005828 oboInOwl:hasExactSynonym "Listeria monocytogenes caused disease or disorder" -MONDO:0005828 oboInOwl:hasExactSynonym "Listeria infection" -MONDO:0005828 oboInOwl:hasExactSynonym "infection by Listeria monocytogenes" MONDO:0019020 oboInOwl:hasExactSynonym "pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections" MONDO:0019020 oboInOwl:hasExactSynonym "pediatric autoimmune disorders associated with Streptococcus infections" MONDO:0019410 oboInOwl:hasExactSynonym "multicentric osteolysis-nodulosis-arthropathy syndrome" @@ -160828,6 +162822,7 @@ MONDO:0008087 oboInOwl:hasExactSynonym "tulip-bulb digger's palsy" MONDO:0008087 oboInOwl:hasExactSynonym "tomaculous neuropathy" MONDO:0008087 oboInOwl:hasExactSynonym "potato-grubbing palsy" MONDO:0008087 oboInOwl:hasExactSynonym "HNPP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008087 oboInOwl:hasExactSynonym "neuropathy, recurrent, with pressure palsies" MONDO:0008087 oboInOwl:hasExactSynonym "familial recurrent polyneuropathy" MONDO:0008087 oboInOwl:hasExactSynonym "current pressure-sensitive neuropathy" MONDO:0008087 oboInOwl:hasExactSynonym "hereditary neuropathy with liability to pressure palsies" @@ -160868,17 +162863,21 @@ MONDO:0000728 oboInOwl:hasExactSynonym "ptosis (disease)" MONDO:0000728 oboInOwl:hasExactSynonym "drooping eyelid" MONDO:0000728 oboInOwl:hasExactSynonym "eyelid ptosis" MONDO:0000728 oboInOwl:hasExactSynonym "ptosis" +MONDO:0020800 oboInOwl:hasExactSynonym "demyelinating disorders of the central nervous system" +MONDO:0020800 oboInOwl:hasExactSynonym "demyelinating disease central nervous system (CNS)" MONDO:0020800 oboInOwl:hasExactSynonym "demyelinating disorder of central nervous system" +MONDO:0020800 oboInOwl:hasExactSynonym "demyelinating CNS disease" MONDO:0020800 oboInOwl:hasExactSynonym "demyelinating disease of central nervous system" MONDO:0016724 oboInOwl:hasExactSynonym "PTPR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020387 oboInOwl:hasExactSynonym "Double outlet right ventricle with transposition of the great arteries" MONDO:0020387 oboInOwl:hasExactSynonym "DORV with subpulmonary VSD" MONDO:0020387 oboInOwl:hasExactSynonym "DORV-TGA" MONDO:0020387 oboInOwl:hasExactSynonym "Taussig-Bing syndrome" -MONDO:0018924 oboInOwl:hasExactSynonym "Lenz microphthalmia" -MONDO:0018924 oboInOwl:hasExactSynonym "Lenz microphthamia syndrome" MONDO:0010498 oboInOwl:hasExactSynonym "MEND syndrome" +MONDO:0010498 oboInOwl:hasExactSynonym "MEND syndrome, X-linked recessive" MONDO:0010498 oboInOwl:hasExactSynonym "Male EBP disorder with neurological defects" +MONDO:0018924 oboInOwl:hasExactSynonym "Lenz microphthalmia" +MONDO:0018924 oboInOwl:hasExactSynonym "Lenz microphthamia syndrome" GO:0043025 oboInOwl:hasExactSynonym "neuronal cell soma" GO:0043025 oboInOwl:hasExactSynonym "neuron cell body" MONDO:0006408 oboInOwl:hasExactSynonym "Sex hormone producing adrenal cortex adenoma" @@ -160913,6 +162912,7 @@ MONDO:0002363 oboInOwl:hasExactSynonym "papilloma, benign" MONDO:0002363 oboInOwl:hasExactSynonym "papilloma" MONDO:0002363 oboInOwl:hasExactSynonym "papilloma (except papilloma of bladder M-81201) (morphologic abnormality)" MONDO:0031012 oboInOwl:hasExactSynonym "autoimmune uveitis (disease)" +MONDO:0007849 oboInOwl:hasExactSynonym "keratoendothelitis fugax hereditaria" MONDO:0007849 oboInOwl:hasExactSynonym "keratitis fugax hereditaria" GO:0002890 oboInOwl:hasExactSynonym "down-regulation of immunoglobulin mediated immune response" GO:0002890 oboInOwl:hasExactSynonym "downregulation of immunoglobulin mediated immune response" @@ -160928,6 +162928,7 @@ MONDO:0003952 oboInOwl:hasExactSynonym "choriocarcinoma of adult CNS" MONDO:0007051 oboInOwl:hasExactSynonym "acromegaloid facial appearance syndrome" MONDO:0030939 oboInOwl:hasExactSynonym "premature ovarian failure 18" MONDO:0030939 oboInOwl:hasExactSynonym "POF18" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020784 oboInOwl:hasExactSynonym "short sleep, familial natural, 1" NCBITaxon:10116 oboInOwl:hasExactSynonym "Norway rat" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name NCBITaxon:10116 oboInOwl:hasExactSynonym "rats" http://purl.obolibrary.org/obo/ncbitaxon#common_name NCBITaxon:10116 oboInOwl:hasExactSynonym "rat" http://purl.obolibrary.org/obo/ncbitaxon#common_name @@ -160974,6 +162975,7 @@ MONDO:0001994 oboInOwl:hasExactSynonym "sphenoidal sinus cancer" MONDO:0001994 oboInOwl:hasExactSynonym "malignant sphenoid sinus neoplasm" MONDO:0001994 oboInOwl:hasExactSynonym "malignant neoplasm of sphenoidal sinus" MONDO:0001994 oboInOwl:hasExactSynonym "malignant sphenoidal sinus tumor" +MONDO:0020621 oboInOwl:hasExactSynonym "blood group, Scianna system" MONDO:0004980 oboInOwl:hasExactSynonym "atopic eczema" MONDO:0004980 oboInOwl:hasExactSynonym "Besnier's prurigo" MONDO:0004980 oboInOwl:hasExactSynonym "eczematous dermatitis" @@ -160996,16 +162998,17 @@ MONDO:0008891 oboInOwl:hasExactSynonym "Fazio-Londe syndrome" MONDO:0008891 oboInOwl:hasExactSynonym "sensorineural hearing loss-pontobulbar palsy syndrome" MONDO:0012247 oboInOwl:hasExactSynonym "SCA27" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012247 oboInOwl:hasExactSynonym "spinocerebellar ataxia type 27" -MONDO:0010086 oboInOwl:hasExactSynonym "cot death" -MONDO:0010086 oboInOwl:hasExactSynonym "sudden death of nonspecific cause in infancy" -MONDO:0010086 oboInOwl:hasExactSynonym "sudden infant death syndrome (context-dependent category)" +MONDO:0010086 oboInOwl:hasExactSynonym "SIDS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010086 oboInOwl:hasExactSynonym "Crib death (context-dependent category)" MONDO:0010086 oboInOwl:hasExactSynonym "cot death (context-dependent category)" +MONDO:0010086 oboInOwl:hasExactSynonym "sudden infant death syndrome" MONDO:0010086 oboInOwl:hasExactSynonym "sudden infant death syndrome NOS (context-dependent category)" -MONDO:0010086 oboInOwl:hasExactSynonym "Crib death (context-dependent category)" -MONDO:0010086 oboInOwl:hasExactSynonym "sudden infant death syndrome (finding)" +MONDO:0010086 oboInOwl:hasExactSynonym "sudden death of nonspecific cause in infancy" +MONDO:0010086 oboInOwl:hasExactSynonym "sudden infant death syndrome, susceptibility to" MONDO:0010086 oboInOwl:hasExactSynonym "crib death" -MONDO:0010086 oboInOwl:hasExactSynonym "sudden infant death syndrome" -MONDO:0010086 oboInOwl:hasExactSynonym "SIDS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010086 oboInOwl:hasExactSynonym "sudden infant death syndrome (finding)" +MONDO:0010086 oboInOwl:hasExactSynonym "sudden infant death syndrome (context-dependent category)" +MONDO:0010086 oboInOwl:hasExactSynonym "cot death" GO:1901738 oboInOwl:hasExactSynonym "regulation of vitamin A metabolism" MONDO:8000010 oboInOwl:hasExactSynonym "antiphospholipid syndrome" MONDO:8000010 oboInOwl:hasExactSynonym "familial lupus anticoagulant" @@ -161066,6 +163069,7 @@ MONDO:0001415 oboInOwl:hasExactSynonym "testicular atrophy" MONDO:0004596 oboInOwl:hasExactSynonym "pulmonary heart disease" MONDO:0004596 oboInOwl:hasExactSynonym "cardiopulmonary disease" MONDO:0004596 oboInOwl:hasExactSynonym "cor pulmonale" +MONDO:0009284 oboInOwl:hasExactSynonym "hemolytic anemia due to glutathione synthetase deficiency" MONDO:0017298 oboInOwl:hasExactSynonym "AZOOR" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008483 oboInOwl:hasExactSynonym "STUT1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008483 oboInOwl:hasExactSynonym "stuttering, familial persistent, 1" @@ -161074,6 +163078,7 @@ MONDO:0016932 oboInOwl:hasExactSynonym "partial trisomy of chromosome 11" MONDO:0016932 oboInOwl:hasExactSynonym "partial duplication of chromosome type 11" MONDO:0010359 oboInOwl:hasExactSynonym "Dent disease type 2" MONDO:0010359 oboInOwl:hasExactSynonym "Dent disease caused by mutation in OCRL" +MONDO:0010359 oboInOwl:hasExactSynonym "dent disease 2, X-linked recessive" MONDO:0010359 oboInOwl:hasExactSynonym "OCRL Dent disease" MONDO:0010359 oboInOwl:hasExactSynonym "nephrolithiasis type 2" HP:0001268 oboInOwl:hasExactSynonym "Mental deterioration" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -161082,6 +163087,7 @@ HP:0001268 oboInOwl:hasExactSynonym "Intellectual deterioration" http://purl.obo HP:0001268 oboInOwl:hasExactSynonym "Cognitive decline" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0001268 oboInOwl:hasExactSynonym "Progressive cognitive decline" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0014175 oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome 12" +MONDO:0014175 oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR" MONDO:0014175 oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR" MONDO:0014175 oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome type 12" MONDO:0014175 oboInOwl:hasExactSynonym "MTDPS12B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -161221,6 +163227,7 @@ HP:0002750 oboInOwl:hasExactSynonym "Retarded bone age" HP:0002750 oboInOwl:hasExactSynonym "Delayed bone age" HP:0002750 oboInOwl:hasExactSynonym "Delayed bone age before puberty" HP:0002750 oboInOwl:hasExactSynonym "Delayed skeletal development" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:8000012 oboInOwl:hasExactSynonym "infantile-onset multisystem neurologic, endocrine, and pancreatic disease" MONDO:8000012 oboInOwl:hasExactSynonym "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" MONDO:8000012 oboInOwl:hasExactSynonym "IMNEPD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCBITaxon:11084 oboInOwl:hasExactSynonym "FSME virus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name @@ -161293,6 +163300,7 @@ MONDO:0003588 oboInOwl:hasExactSynonym "liposarcoma of the larynx" MONDO:0003588 oboInOwl:hasExactSynonym "laryngeal liposarcoma" MONDO:0003588 oboInOwl:hasExactSynonym "lip larynx sarcoma" MONDO:0003588 oboInOwl:hasExactSynonym "larynx liposarcoma" +MONDO:0024532 oboInOwl:hasExactSynonym "otofaciocervical syndrome" MONDO:0024532 oboInOwl:hasExactSynonym "otofaciocervical syndrome caused by mutation in EYA1" MONDO:0024532 oboInOwl:hasExactSynonym "EYA1 otofaciocervical syndrome" MONDO:0024532 oboInOwl:hasExactSynonym "otofaciocervical syndrome 1" @@ -161324,6 +163332,7 @@ MONDO:0004972 oboInOwl:hasExactSynonym "acinar cell adenoma (morphologic abnorma MONDO:0004972 oboInOwl:hasExactSynonym "acinar cell adenoma" MONDO:0008157 oboInOwl:hasExactSynonym "disseminated dermatofibrosis with osteopoikilosis" MONDO:0008157 oboInOwl:hasExactSynonym "Buschke-Ollendorff syndrome" +MONDO:0008157 oboInOwl:hasExactSynonym "osteopoikilosis with or without melorheostosis" MONDO:0012705 oboInOwl:hasExactSynonym "FMTLE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012705 oboInOwl:hasExactSynonym "ETL3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012705 oboInOwl:hasExactSynonym "familial temporal lobe epilepsy type 3" @@ -161379,6 +163388,7 @@ MONDO:0005178 oboInOwl:hasExactSynonym "osteoarthrosis" MONDO:0007147 oboInOwl:hasExactSynonym "obstructive sleep apnea syndrome" MONDO:0007147 oboInOwl:hasExactSynonym "obstructive sleep apnea" MONDO:0010524 oboInOwl:hasExactSynonym "ASAT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010524 oboInOwl:hasExactSynonym "anemia, sideroblastic, with ataxia, X-linked recessive" MONDO:0010524 oboInOwl:hasExactSynonym "X-linked sideroblastic anemia and ataxia" MONDO:0010524 oboInOwl:hasExactSynonym "anemia sideroblastic and spinocerebellar ataxia" MONDO:0010524 oboInOwl:hasExactSynonym "Pagon-Bird-Detter syndrome" @@ -161428,6 +163438,8 @@ MONDO:0019897 oboInOwl:hasExactSynonym "telomeric deletion 12q" MONDO:0019897 oboInOwl:hasExactSynonym "distal monosomy type 12q" MONDO:0019897 oboInOwl:hasExactSynonym "distal deletion 12q" MONDO:0018916 oboInOwl:hasExactSynonym "nonsyndromic anorectal malformation" +MONDO:0026762 oboInOwl:hasExactSynonym "Wieacker-Wolff syndrome, female-restricted, X-linked dominant" +MONDO:0010233 oboInOwl:hasExactSynonym "heterotopia, periventricular, 1, X-linked dominant" MONDO:0010233 oboInOwl:hasExactSynonym "heterotopia, periventricular, Ehlers-Danlos variant" MONDO:0010233 oboInOwl:hasExactSynonym "heterotopia, periventricular, X-linked dominant" MONDO:0019077 oboInOwl:hasExactSynonym "follicular dyskeratoma" @@ -161484,6 +163496,7 @@ MONDO:0010030 oboInOwl:hasExactSynonym "xerodermosteosis" MONDO:0010030 oboInOwl:hasExactSynonym "sicca syndrome" MONDO:0010030 oboInOwl:hasExactSynonym "syndrome, Sjogren's" MONDO:0014060 oboInOwl:hasExactSynonym "retinol dystrophy-iris coloboma-comedogenic acne syndrome" +MONDO:0011674 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, axonal type 2M" MONDO:0011674 oboInOwl:hasExactSynonym "DI-CMTB" MONDO:0011674 oboInOwl:hasExactSynonym "CMTDI1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011674 oboInOwl:hasExactSynonym "DNM2 Charcot-Marie-Tooth disease" @@ -161527,6 +163540,7 @@ MONDO:0003796 oboInOwl:hasExactSynonym "rectal Kaposi's sarcoma" MONDO:0003796 oboInOwl:hasExactSynonym "Kaposi's sarcoma of rectum" MONDO:0003796 oboInOwl:hasExactSynonym "Kaposi's sarcoma (disease) of rectum" MONDO:0003796 oboInOwl:hasExactSynonym "rectum Kaposi's sarcoma (disease)" +MONDO:0020615 oboInOwl:hasExactSynonym "blood group, Landsteiner-Wiener" MONDO:0011861 oboInOwl:hasExactSynonym "breath-holding Spells" ECTO:7000083 oboInOwl:hasExactSynonym "chemically enriched sediment exposure" MONDO:0006825 oboInOwl:hasExactSynonym "kuru encephalopathy" @@ -161550,6 +163564,7 @@ GO:0070914 oboInOwl:hasExactSynonym "UVER" GO:0070914 oboInOwl:hasExactSynonym "UVDE-dependent excision repair" MONDO:0024376 oboInOwl:hasExactSynonym "disorders of initiating and maintaining sleep" MONDO:0010947 oboInOwl:hasExactSynonym "Budd-Chiari syndrome" +MONDO:0010947 oboInOwl:hasExactSynonym "Budd-Chiari syndrome, somatic" GO:0033365 oboInOwl:hasExactSynonym "protein localization in organelle" GO:0033365 oboInOwl:hasExactSynonym "protein localisation to organelle" MONDO:0016043 oboInOwl:hasExactSynonym "nonsyndromic cleft lip (disease)" @@ -161619,6 +163634,7 @@ ENVO:00000300 oboInOwl:hasExactSynonym "scrubland" MONDO:0004425 oboInOwl:hasExactSynonym "overactive thyroid" MONDO:0012593 oboInOwl:hasExactSynonym "brain-lung-thyroid syndrome" MONDO:0012593 oboInOwl:hasExactSynonym "choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome" +MONDO:0012593 oboInOwl:hasExactSynonym "choreoathetosis, hypothyroidism, and neonatal respiratory distress" MONDO:0021257 oboInOwl:hasExactSynonym "jugular body neoplasm" MONDO:0021257 oboInOwl:hasExactSynonym "jugular body tumor" MONDO:0021257 oboInOwl:hasExactSynonym "neoplasm of jugular body" @@ -161659,13 +163675,14 @@ MONDO:0001446 oboInOwl:hasExactSynonym "hypertonicity of bladder" MONDO:0007349 oboInOwl:hasExactSynonym "familial cold autoinflammatory syndrome 1" MONDO:0007349 oboInOwl:hasExactSynonym "familial cold autoinflammatory syndrome type 1" MONDO:0007349 oboInOwl:hasExactSynonym "familial cold autoinflammatory syndrome caused by mutation in NLRP3" +MONDO:0007349 oboInOwl:hasExactSynonym "familial cold inflammatory syndrome 1" MONDO:0007349 oboInOwl:hasExactSynonym "NLRP3 familial cold autoinflammatory syndrome" MONDO:0002520 oboInOwl:hasExactSynonym "hepatic porphyria" MONDO:0002520 oboInOwl:hasExactSynonym "liver porphyria" -MONDO:0002520 oboInOwl:hasExactSynonym "Delta-aminolevulinate dehydratase deficiency" MONDO:0002520 oboInOwl:hasExactSynonym "ALAD deficiency" MONDO:0002520 oboInOwl:hasExactSynonym "porphyria of liver" MONDO:0002520 oboInOwl:hasExactSynonym "porphobilinogen synthase deficiency" +MONDO:0002520 oboInOwl:hasExactSynonym "Delta-aminolevulinate dehydratase deficiency" MONDO:0013151 oboInOwl:hasExactSynonym "choroidal dystrophy, central areolar, 3" MONDO:0013151 oboInOwl:hasExactSynonym "CACD3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015978 oboInOwl:hasExactSynonym "neutrophilopathy" @@ -161687,6 +163704,7 @@ MONDO:0020583 oboInOwl:hasExactSynonym "chromosome 17 abnormality" MONDO:0012915 oboInOwl:hasExactSynonym "dup(1)(q21.1)" MONDO:0012915 oboInOwl:hasExactSynonym "chromosome 1q21.1 duplication syndrome" MONDO:0012915 oboInOwl:hasExactSynonym "1q21.1 microduplication syndrome" +MONDO:0012915 oboInOwl:hasExactSynonym "chromosome 1q21.1 duplication syndrome, isolated cases" MONDO:0012915 oboInOwl:hasExactSynonym "trisomy 1q21.1" MONDO:0020071 oboInOwl:hasExactSynonym "epilepsy syndrome of infancy" MONDO:0020071 oboInOwl:hasExactSynonym "infantile epilepsy syndrome" @@ -161706,9 +163724,10 @@ CL:0002063 oboInOwl:hasExactSynonym "type II alveolar epithelial cell" CL:0002063 oboInOwl:hasExactSynonym "granular pneumocyte" CL:0002063 oboInOwl:hasExactSynonym "type II alveolar cell" CL:0002063 oboInOwl:hasExactSynonym "cuboidal type II cell" -MONDO:0030266 oboInOwl:hasExactSynonym "immunodeficiency 80 with or without congenital cardiomyopathy" +MONDO:0030266 oboInOwl:hasExactSynonym "immunodeficiency 80 with or without cardiomyopathy" MONDO:0030266 oboInOwl:hasExactSynonym "MCM10 deficiency" MONDO:0030266 oboInOwl:hasExactSynonym "IMD80" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0030266 oboInOwl:hasExactSynonym "immunodeficiency 80 with or without congenital cardiomyopathy" MONDO:0012014 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease caused by mutation in GDAP1" MONDO:0012014 oboInOwl:hasExactSynonym "RI-CMT type A" MONDO:0012014 oboInOwl:hasExactSynonym "autosomal recessive intermediate Charcot-Marie-Tooth disease type A" @@ -161720,6 +163739,7 @@ MONDO:0012014 oboInOwl:hasExactSynonym "CMTRIA" http://purl.obolibrary.org/obo/m MONDO:0012014 oboInOwl:hasExactSynonym "GDAP1 Charcot-Marie-Tooth disease" MONDO:0013658 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant type 11" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0013658 oboInOwl:hasExactSynonym "MRD11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013658 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal dominant 11" MONDO:0013658 oboInOwl:hasExactSynonym "autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1" MONDO:0013658 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant type 11" MONDO:0013658 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant 11" @@ -161745,6 +163765,7 @@ CHEBI:46967 oboInOwl:hasExactSynonym "(2R,3S,4E)-2-aminooctadec-4-ene-1,3-diol" MONDO:0042233 oboInOwl:hasExactSynonym "invasive candidiasis" MONDO:0042233 oboInOwl:hasExactSynonym "disseminated candidiasis" MONDO:0020292 oboInOwl:hasExactSynonym "congenital aorta, aortic arch or pulmonary arteries anomaly" +MONDO:0010056 oboInOwl:hasExactSynonym "spinal muscular atrophy-4" MONDO:0010056 oboInOwl:hasExactSynonym "spinal muscular atrophy of adults" MONDO:0010056 oboInOwl:hasExactSynonym "SMA-IV" MONDO:0010056 oboInOwl:hasExactSynonym "spinal muscular atrophy, type IV" @@ -161758,6 +163779,7 @@ MONDO:0013279 oboInOwl:hasExactSynonym "LQT13" http://purl.obolibrary.org/obo/mo MONDO:0013279 oboInOwl:hasExactSynonym "long QT syndrome caused by mutation in KCNJ5" MONDO:0013279 oboInOwl:hasExactSynonym "long QT syndrome 13" MONDO:0013279 oboInOwl:hasExactSynonym "long QT syndrome type 13" +MONDO:0011002 oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy VIA" MONDO:0011002 oboInOwl:hasExactSynonym "MFN2 hereditary motor and sensory neuropathy type 6" MONDO:0011002 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 6A" MONDO:0011002 oboInOwl:hasExactSynonym "neuropathy, hereditary motor and sensory, type VIA" @@ -161771,14 +163793,14 @@ MONDO:0014225 oboInOwl:hasExactSynonym "FTH1-related iron overload" MONDO:0014225 oboInOwl:hasExactSynonym "hereditary hemochromatosis caused by mutation in FTH1" MONDO:0012899 oboInOwl:hasExactSynonym "AGA3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012899 oboInOwl:hasExactSynonym "alopecia, androgenetic, 3" -MONDO:0013845 oboInOwl:hasExactSynonym "PLCB4 auriculocondylar syndrome" -MONDO:0013845 oboInOwl:hasExactSynonym "auriculocondylar syndrome caused by mutation in PLCB4" -MONDO:0013845 oboInOwl:hasExactSynonym "Auriculocondylar syndrome 2" -MONDO:0013845 oboInOwl:hasExactSynonym "Auriculocondylar syndrome type 2" MONDO:0030705 oboInOwl:hasExactSynonym "Trichomonas prostatitis" MONDO:0030705 oboInOwl:hasExactSynonym "trichomonal prostatitis" MONDO:0030705 oboInOwl:hasExactSynonym "Trichomonas vaginalis caused prostatitis (disease)" MONDO:0030705 oboInOwl:hasExactSynonym "Trichomonas vaginalis prostatitis (disease)" +MONDO:0013845 oboInOwl:hasExactSynonym "PLCB4 auriculocondylar syndrome" +MONDO:0013845 oboInOwl:hasExactSynonym "auriculocondylar syndrome caused by mutation in PLCB4" +MONDO:0013845 oboInOwl:hasExactSynonym "Auriculocondylar syndrome 2" +MONDO:0013845 oboInOwl:hasExactSynonym "Auriculocondylar syndrome type 2" HP:0000517 oboInOwl:hasExactSynonym "Lens issue" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0000517 oboInOwl:hasExactSynonym "Abnormality of the lens" http://purl.obolibrary.org/obo/hp.obo#layperson GO:0006661 oboInOwl:hasExactSynonym "PtdIns biosynthesis" @@ -161798,6 +163820,7 @@ MONDO:0011108 oboInOwl:hasExactSynonym "neonatal Schwartz-Jampel syndrome" MONDO:0011108 oboInOwl:hasExactSynonym "Stuve-Wiedemann syndrome" MONDO:0011108 oboInOwl:hasExactSynonym "SJS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011108 oboInOwl:hasExactSynonym "Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome" +MONDO:0011108 oboInOwl:hasExactSynonym "Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome" MONDO:0011108 oboInOwl:hasExactSynonym "Schwartz-Jampel syndrome type 2" MONDO:0011108 oboInOwl:hasExactSynonym "Stüve-Wiedemann syndrome" MONDO:0011108 oboInOwl:hasExactSynonym "Stüve-Wiedemann dysplasia" @@ -161894,6 +163917,7 @@ MONDO:0008711 oboInOwl:hasExactSynonym "ACPS4" http://purl.obolibrary.org/obo/mo CHEBI:57756 oboInOwl:hasExactSynonym "(2S,3R,4E)-1,3-dihydroxyoctadec-4-en-2-aminium" MONDO:0020801 oboInOwl:hasExactSynonym "rectal medullary carcinoma" GO:0002251 oboInOwl:hasExactSynonym "immune response in organ or tissue" +MONDO:0007514 oboInOwl:hasExactSynonym "ectopia lentis, familial" MONDO:0007514 oboInOwl:hasExactSynonym "FBN1 isolated ectopia lentis" MONDO:0007514 oboInOwl:hasExactSynonym "isolated ectopia lentis caused by mutation in FBN1" MONDO:0007514 oboInOwl:hasExactSynonym "ectopia lentis 1, isolated, autosomal dominant" @@ -161989,9 +164013,13 @@ MONDO:0010264 oboInOwl:hasExactSynonym "adrenal hypoplasia congenita" MONDO:0010264 oboInOwl:hasExactSynonym "X-linked congenital adrenal hypoplasia" MONDO:0010264 oboInOwl:hasExactSynonym "congenital adrenal hypoplasia" MONDO:0010264 oboInOwl:hasExactSynonym "X-linked adrenal hypoplasia congenita" +MONDO:0010264 oboInOwl:hasExactSynonym "adrenal hypoplasia, congenital, X-linked recessive" GO:0034762 oboInOwl:hasExactSynonym "regulation of membrane transport" MONDO:0011889 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2I" MONDO:0011889 oboInOwl:hasExactSynonym "CMT2I" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011889 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 2I" +MONDO:0007052 oboInOwl:hasExactSynonym "pituitary adenoma 1, multiple types, autosomal dominant, somatic mutation" +MONDO:0007052 oboInOwl:hasExactSynonym "pituitary adenoma predisposition, autosomal dominant, somatic mutation" MONDO:0007052 oboInOwl:hasExactSynonym "pituitary adenoma, growth hormone-secreting, type 1" MONDO:0006496 oboInOwl:hasExactSynonym "Plegia" MONDO:0006496 oboInOwl:hasExactSynonym "Plegias" @@ -162010,6 +164038,7 @@ MONDO:0014091 oboInOwl:hasExactSynonym "ATP5F1A mitochondrial complex deficiency MONDO:0010956 oboInOwl:hasExactSynonym "enamel hypoplasia, cataracts, and aqueductal stenosis" MONDO:0100006 oboInOwl:hasExactSynonym "secondary MACS" MONDO:0011902 oboInOwl:hasExactSynonym "CMT1F" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011902 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 1F" MONDO:0011902 oboInOwl:hasExactSynonym "NEFL Charcot-Marie-Tooth disease type 1" MONDO:0011902 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL" MONDO:0011902 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 1F" @@ -162040,6 +164069,7 @@ MONDO:0001995 oboInOwl:hasExactSynonym "squamous cell carcinoma of the sphenoida MONDO:0001995 oboInOwl:hasExactSynonym "squamous cell carcinoma of the sphenoid sinus" MONDO:0001995 oboInOwl:hasExactSynonym "sphenoid sinus epidermoid carcinoma" MONDO:0001995 oboInOwl:hasExactSynonym "epidermoid carcinoma of the sphenoidal sinus" +MONDO:0020622 oboInOwl:hasExactSynonym "blood group, Stoltzfus system" MONDO:0016035 oboInOwl:hasExactSynonym "Nelson's syndrome" MONDO:0004981 oboInOwl:hasExactSynonym "AF" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0004981 oboInOwl:hasExactSynonym "atrial fibrillation (disease)" @@ -162067,8 +164097,8 @@ MONDO:0008314 oboInOwl:hasExactSynonym "pronation-supination of the forearm, imp MONDO:0004597 oboInOwl:hasExactSynonym "infarction, pulmonary" MONDO:0009872 oboInOwl:hasExactSynonym "deafness-pili torti-hypogonadism syndrome" MONDO:0009872 oboInOwl:hasExactSynonym "Bjornstad syndrome" -MONDO:0014910 oboInOwl:hasExactSynonym "TTC25 primary ciliary dyskinesia" MONDO:0014910 oboInOwl:hasExactSynonym "primary ciliary dyskinesia type 35" +MONDO:0014910 oboInOwl:hasExactSynonym "TTC25 primary ciliary dyskinesia" MONDO:0014910 oboInOwl:hasExactSynonym "CILD35" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014910 oboInOwl:hasExactSynonym "ciliary dyskinesia, primary, 35" MONDO:0014910 oboInOwl:hasExactSynonym "primary ciliary dyskinesia 35 with or without situs inversus" @@ -162081,6 +164111,7 @@ MONDO:0014427 oboInOwl:hasExactSynonym "POC1B cone-rod dystrophy" MONDO:0014427 oboInOwl:hasExactSynonym "cone-rod dystrophy type 20" MONDO:0014427 oboInOwl:hasExactSynonym "cone-rod dystrophy 20" MONDO:0014427 oboInOwl:hasExactSynonym "cone-rod dystrophy caused by mutation in POC1B" +MONDO:0013340 oboInOwl:hasExactSynonym "Parkinson disease 5, susceptibility to" MONDO:0013340 oboInOwl:hasExactSynonym "Parkinson disease 5, autosomal dominant, susceptibility to" MONDO:0013340 oboInOwl:hasExactSynonym "UCHL1 young-onset Parkinson disease" MONDO:0013340 oboInOwl:hasExactSynonym "young-onset Parkinson disease caused by mutation in UCHL1" @@ -162152,6 +164183,7 @@ MONDO:0018925 oboInOwl:hasExactSynonym "hemiplegic migraine" MONDO:0018925 oboInOwl:hasExactSynonym "familial or sporadic hemiplegic migraine" MONDO:0009285 oboInOwl:hasExactSynonym "inborn glutathione hydrolase activity disorder" MONDO:0009285 oboInOwl:hasExactSynonym "glutathionuria" +MONDO:0009285 oboInOwl:hasExactSynonym "glutathioninuria" MONDO:0009285 oboInOwl:hasExactSynonym "rare inborn error of glutathione hydrolase activity" MONDO:0009285 oboInOwl:hasExactSynonym "inborn error of glutathione hydrolase activity" MONDO:0044781 oboInOwl:hasExactSynonym "steroid-sensitive nephrotic syndrome" @@ -162237,6 +164269,8 @@ MONDO:0014397 oboInOwl:hasExactSynonym "COXPD20" http://purl.obolibrary.org/obo/ MONDO:0014397 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency type 20" MONDO:0014397 oboInOwl:hasExactSynonym "VARS2 combined oxidative phosphorylation deficiency" MONDO:0013143 oboInOwl:hasExactSynonym "hereditary thrombophilia due to congenital HRG deficiency" +MONDO:0013143 oboInOwl:hasExactSynonym "thrombophilia 11 due to HRG deficiency" +MONDO:0020624 oboInOwl:hasExactSynonym "blood group, Waldner" GO:0051962 oboInOwl:hasExactSynonym "up-regulation of nervous system development" GO:0051962 oboInOwl:hasExactSynonym "upregulation of nervous system development" GO:0051962 oboInOwl:hasExactSynonym "up regulation of nervous system development" @@ -162253,6 +164287,8 @@ MONDO:0003589 oboInOwl:hasExactSynonym "liposarcoma of ovary" MONDO:0003589 oboInOwl:hasExactSynonym "ovary liposarcoma" MONDO:0003589 oboInOwl:hasExactSynonym "ovarian liposarcoma" MONDO:0024533 oboInOwl:hasExactSynonym "pulmonary hypertension, primary, 1" +MONDO:0024533 oboInOwl:hasExactSynonym "pulmonary hypertension, familial primary, 1, with or without HHT" +MONDO:0024533 oboInOwl:hasExactSynonym "pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated" MONDO:0024533 oboInOwl:hasExactSynonym "primary pulmonary hypertension caused by mutation in BMPR2" MONDO:0024533 oboInOwl:hasExactSynonym "BMPR2 primary pulmonary hypertension" MONDO:0011011 oboInOwl:hasExactSynonym "Gurrieri-Sammito-Bellussi syndrome" @@ -162304,8 +164340,8 @@ MONDO:0015883 oboInOwl:hasExactSynonym "trichodysplasia-abnormal dermatoglyphics MONDO:0015883 oboInOwl:hasExactSynonym "Halal-Setton-Wang syndrome" HP:0000509 oboInOwl:hasExactSynonym "Pink eye" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0015462 oboInOwl:hasExactSynonym "Sharma-Kapoor-Ramji syndrome" -MONDO:0001019 oboInOwl:hasExactSynonym "strabismic amblyopia" MONDO:0020017 oboInOwl:hasExactSynonym "rare otorhinolaryngologic disease" +MONDO:0001019 oboInOwl:hasExactSynonym "strabismic amblyopia" MONDO:0002577 oboInOwl:hasExactSynonym "rhabdomyosarcoma (disease) of extrahepatic bile duct" MONDO:0002577 oboInOwl:hasExactSynonym "rhabdomyosarcoma of extrahepatic bile duct" MONDO:0002577 oboInOwl:hasExactSynonym "extrahepatic bile duct rhabdomyosarcoma" @@ -162345,6 +164381,7 @@ MONDO:0006965 oboInOwl:hasExactSynonym "hypertrophic pulmonary osteoarthropathy MONDO:0006965 oboInOwl:hasExactSynonym "HPOA - hypertrophic pulmonary osteoarthropathy" MONDO:0006965 oboInOwl:hasExactSynonym "hypertrophic pulmonary osteoarthropathy" MONDO:0007911 oboInOwl:hasExactSynonym "lipoprotein, variant of beta" +MONDO:0032904 oboInOwl:hasExactSynonym "meesmann corneal dystrophy 2" MONDO:0100037 oboInOwl:hasExactSynonym "juvenile onset PRP" GO:0060082 oboInOwl:hasExactSynonym "nictitating membrane reflex" MONDO:0001418 oboInOwl:hasExactSynonym "tracheal sarcoma" @@ -162403,6 +164440,8 @@ MONDO:0008345 oboInOwl:hasExactSynonym "cryptogenic fibrosing alveolitis" MONDO:0008345 oboInOwl:hasExactSynonym "UIP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008345 oboInOwl:hasExactSynonym "usual interstitial pneumonia" MONDO:0008345 oboInOwl:hasExactSynonym "idiopathic pulmonary fibrosis, familial" +MONDO:0008345 oboInOwl:hasExactSynonym "pulmonary fibrosis, idiopathic, susceptibility to" +MONDO:0008345 oboInOwl:hasExactSynonym "interstitial lung disease 2" MONDO:0008345 oboInOwl:hasExactSynonym "CFA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0008345 oboInOwl:hasExactSynonym "fibrocystic pulmonary dysplasia" MONDO:0014586 oboInOwl:hasExactSynonym "congenital myasthenic syndrome type 4B" @@ -162411,6 +164450,7 @@ MONDO:0014586 oboInOwl:hasExactSynonym "congenital myasthenic syndrome 4B fast-c MONDO:8000015 oboInOwl:hasExactSynonym "TRS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:8000015 oboInOwl:hasExactSynonym "testicular regression syndrome" MONDO:8000015 oboInOwl:hasExactSynonym "SRXY11" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:8000015 oboInOwl:hasExactSynonym "46, XY sex reversal 11" MONDO:0007148 oboInOwl:hasExactSynonym "appendicitis, proneness to" MONDO:0005836 oboInOwl:hasExactSynonym "malignant Male reproductive system neoplasm" MONDO:0005836 oboInOwl:hasExactSynonym "malignant Male reproductive system tumor" @@ -162435,12 +164475,19 @@ MONDO:0001847 oboInOwl:hasExactSynonym "lens nucleus senile cataract" MONDO:0001847 oboInOwl:hasExactSynonym "Senile nuclear cataract" MONDO:0001847 oboInOwl:hasExactSynonym "senile cataract of lens nucleus" MONDO:0017515 oboInOwl:hasExactSynonym "short fingers, unilateral" -MONDO:0002009 oboInOwl:hasExactSynonym "recurrent major depression" -MONDO:0002009 oboInOwl:hasExactSynonym "unipolar depression" -MONDO:0002009 oboInOwl:hasExactSynonym "major depressive disorder" +MONDO:0002009 oboInOwl:hasExactSynonym "major depressive disorder 2" MONDO:0002009 oboInOwl:hasExactSynonym "major depression" +MONDO:0002009 oboInOwl:hasExactSynonym "major depressive disorder 1" +MONDO:0002009 oboInOwl:hasExactSynonym "major depressive disorder, response to citalopram therapy in" +MONDO:0002009 oboInOwl:hasExactSynonym "seasonal affective disorder, susceptibility to" +MONDO:0002009 oboInOwl:hasExactSynonym "major depressive disorder and accelerated response to antidepressant drug treatment" +MONDO:0002009 oboInOwl:hasExactSynonym "recurrent major depression" MONDO:0002009 oboInOwl:hasExactSynonym "single major depressive episode" +MONDO:0002009 oboInOwl:hasExactSynonym "major depressive disorder" +MONDO:0002009 oboInOwl:hasExactSynonym "unipolar depression, susceptibility to" +MONDO:0002009 oboInOwl:hasExactSynonym "unipolar depression" MONDO:0014773 oboInOwl:hasExactSynonym "MRFACD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014773 oboInOwl:hasExactSynonym "impaired intellectual development and distinctive facial features with or without cardiac defects" MONDO:0014773 oboInOwl:hasExactSynonym "intellectual disability and distinctive Facial features with or without Cardiac defects" MONDO:0014773 oboInOwl:hasExactSynonym "cardiac anomalies - developmental delay - facial dysmorphism syndrome" MONDO:0014773 oboInOwl:hasExactSynonym "mental retardation and distinctive Facial features with or without Cardiac defects" http://purl.obolibrary.org/obo/mondo#DEPRECATED @@ -162464,6 +164511,9 @@ MONDO:0005366 oboInOwl:hasExactSynonym "chronic Hepatitis B" MONDO:0005366 oboInOwl:hasExactSynonym "hepatitis B, chronic" MONDO:0005366 oboInOwl:hasExactSynonym "hepatitis B infection, chronic" MONDO:0009957 oboInOwl:hasExactSynonym "Reese retinal dysplasia" +MONDO:0008566 oboInOwl:hasExactSynonym "thyroid carcinoma, follicular, somatic" +MONDO:0008566 oboInOwl:hasExactSynonym "thyroid cancer, nonmedullary, 2, autosomal dominant, somatic mutation" +MONDO:0008566 oboInOwl:hasExactSynonym "thyroid carcinoma, follicular, autosomal dominant, somatic mutation" MONDO:0008566 oboInOwl:hasExactSynonym "thyroid cancer, nonmedullary, type 2" MONDO:0008566 oboInOwl:hasExactSynonym "thyroid cancer, nonmedullary, 2" MONDO:0018631 oboInOwl:hasExactSynonym "Marie Unna congenital hypotrichosis" @@ -162476,6 +164526,7 @@ HP:0000572 oboInOwl:hasExactSynonym "Vision loss" http://purl.obolibrary.org/obo MONDO:0017173 oboInOwl:hasExactSynonym "nonsyndromic male infertility due to sperm motility disorder" MONDO:0017173 oboInOwl:hasExactSynonym "isolated male infertility due to sperm motility disorder" MONDO:0017173 oboInOwl:hasExactSynonym "non-syndromic male infertility due asthenozoospermia" +MONDO:0026763 oboInOwl:hasExactSynonym "holoprosencephaly 13, X-linked, X-linked recessive, X-linked dominant" MONDO:0017830 oboInOwl:hasExactSynonym "neonatal Canavan disease" MONDO:0017830 oboInOwl:hasExactSynonym "infantile Canavan disease" MONDO:0007881 oboInOwl:hasExactSynonym "tooth agenesis, selective, type 4" @@ -162518,6 +164569,7 @@ MONDO:0011675 oboInOwl:hasExactSynonym "DI-CMTA" MONDO:0011675 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease dominant intermediate A" MONDO:0010421 oboInOwl:hasExactSynonym "Bruton type agammaglobulinemia" MONDO:0010421 oboInOwl:hasExactSynonym "Bruton-type agammaglobulinemia" +MONDO:0010421 oboInOwl:hasExactSynonym "agammaglobulinemia, X-linked 1, X-linked recessive" MONDO:0010421 oboInOwl:hasExactSynonym "Bruton's X-linked agammaglobulinemia" MONDO:0010421 oboInOwl:hasExactSynonym "Bruton's agammaglobulinaemia" MONDO:0010421 oboInOwl:hasExactSynonym "X-linked agammaglobulinemia" @@ -162541,10 +164593,10 @@ MONDO:0012600 oboInOwl:hasExactSynonym "AUTS9" http://purl.obolibrary.org/obo/mo MONDO:0021437 oboInOwl:hasExactSynonym "stomach lipoma" MONDO:0021437 oboInOwl:hasExactSynonym "gastric lipoma" MONDO:0021437 oboInOwl:hasExactSynonym "lipoma of the stomach" -MONDO:0016044 oboInOwl:hasExactSynonym "cleft lip-alveolus-palate syndrome" -MONDO:0016044 oboInOwl:hasExactSynonym "FLP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016044 oboInOwl:hasExactSynonym "cleft lip and palate" +MONDO:0016044 oboInOwl:hasExactSynonym "cleft lip-alveolus-palate syndrome" MONDO:0016044 oboInOwl:hasExactSynonym "alveolar cleft lip and palate" +MONDO:0016044 oboInOwl:hasExactSynonym "FLP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION ENVO:00002872 oboInOwl:hasExactSynonym "sugarcane bagasse" MONDO:0011862 oboInOwl:hasExactSynonym "autosomal recessive spastic paraplegia type 24" MONDO:0011862 oboInOwl:hasExactSynonym "hereditary spastic paraplegia type 24" @@ -162620,6 +164672,7 @@ MONDO:0012665 oboInOwl:hasExactSynonym "BFSP1 early-onset non-syndromic cataract MONDO:0012665 oboInOwl:hasExactSynonym "cataract 33" MONDO:0012665 oboInOwl:hasExactSynonym "early-onset non-syndromic cataract caused by mutation in BFSP1" MONDO:0012665 oboInOwl:hasExactSynonym "cataract type 33" +MONDO:0018919 oboInOwl:hasExactSynonym "mccune-albright syndrome, somatic, mosaic" MONDO:0018919 oboInOwl:hasExactSynonym "MAS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018919 oboInOwl:hasExactSynonym "gonadotropin-independent female-limited sexual precocity" MONDO:0018919 oboInOwl:hasExactSynonym "Albright's disease" @@ -162698,21 +164751,22 @@ MONDO:0014039 oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome typ MONDO:0014039 oboInOwl:hasExactSynonym "mtDNA maintenance syndrome due to MGME1 deficiency" MONDO:0014039 oboInOwl:hasExactSynonym "mitochondrial DNA depletion syndrome 11" MONDO:0014039 oboInOwl:hasExactSynonym "mitochondrial DNA maintenance syndrome due to MGME1 deficiency" -MONDO:0001447 oboInOwl:hasExactSynonym "detrusor sphincter dyssynergia (disease)" -MONDO:0001447 oboInOwl:hasExactSynonym "detrusor sphincter dyssynergia" MONDO:0009660 oboInOwl:hasExactSynonym "MPS IV B" MONDO:0009660 oboInOwl:hasExactSynonym "mucopolysaccharidosis type IVB" +MONDO:0009660 oboInOwl:hasExactSynonym "mucopolysaccharidosis type IVB (Morquio)" MONDO:0009660 oboInOwl:hasExactSynonym "MPSIVB" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009660 oboInOwl:hasExactSynonym "MPS 4B" MONDO:0009660 oboInOwl:hasExactSynonym "MPS4B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009660 oboInOwl:hasExactSynonym "Morquio disease type B" MONDO:0009660 oboInOwl:hasExactSynonym "Beta-D-galactosidase deficiency" MONDO:0009660 oboInOwl:hasExactSynonym "Morquio syndrome B" +MONDO:0001447 oboInOwl:hasExactSynonym "detrusor sphincter dyssynergia (disease)" +MONDO:0001447 oboInOwl:hasExactSynonym "detrusor sphincter dyssynergia" MONDO:0004647 oboInOwl:hasExactSynonym "intraepithelial carcinoma" MONDO:0004647 oboInOwl:hasExactSynonym "carcinoma, in situ, malignant" MONDO:0004647 oboInOwl:hasExactSynonym "stage 0 disease" -MONDO:0004647 oboInOwl:hasExactSynonym "non-invasive carcinoma" MONDO:0004647 oboInOwl:hasExactSynonym "epithelial tumor, in situ, malignant" +MONDO:0004647 oboInOwl:hasExactSynonym "non-invasive carcinoma" MONDO:0004647 oboInOwl:hasExactSynonym "carcinoma in situ" MONDO:0013152 oboInOwl:hasExactSynonym "systemic lupus erythematosus, susceptibility to, 14" MONDO:0013152 oboInOwl:hasExactSynonym "SLEB14" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -162720,6 +164774,7 @@ MONDO:0014389 oboInOwl:hasExactSynonym "polyglucosan body myopathy, early-onset, MONDO:0014389 oboInOwl:hasExactSynonym "polyglucosan body myopathy 1 with or without immunodeficiency" MONDO:0014389 oboInOwl:hasExactSynonym "PGBM1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014389 oboInOwl:hasExactSynonym "polyglucosan body myopathy type 1" +MONDO:0020616 oboInOwl:hasExactSynonym "blood group, MNSs system" PATO:0001546 oboInOwl:hasExactSynonym "solidity" CHEBI:37133 oboInOwl:hasExactSynonym "barium molecular entity" MONDO:0006471 oboInOwl:hasExactSynonym "trachea adenoid cystic carcinoma" @@ -162778,6 +164833,7 @@ MONDO:0024377 oboInOwl:hasExactSynonym "delayed sleep phase syndrome" MONDO:0024377 oboInOwl:hasExactSynonym "sleep wake schedule disorder, delayed phase type" MONDO:0024377 oboInOwl:hasExactSynonym "DSPD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011498 oboInOwl:hasExactSynonym "schizophrenia type 9" +MONDO:0011498 oboInOwl:hasExactSynonym "schizophrenia 9, susceptibility to" MONDO:0011498 oboInOwl:hasExactSynonym "schizophrenia 9" MONDO:0011498 oboInOwl:hasExactSynonym "SCZD9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012444 oboInOwl:hasExactSynonym "neurodegeneration with brain iron accumulation type 2b" @@ -162904,6 +164960,7 @@ MONDO:0008712 oboInOwl:hasExactSynonym "Kaplan-Plauchu-Fitch syndrome" MONDO:0014649 oboInOwl:hasExactSynonym "autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3" MONDO:0014649 oboInOwl:hasExactSynonym "EDC3 autosomal recessive non-syndromic intellectual disability" MONDO:0014649 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 50" +MONDO:0014649 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 50" MONDO:0014649 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 50" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014649 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 50" MONDO:0007686 oboInOwl:hasExactSynonym "Alpha storage pool deficiency" @@ -162927,6 +164984,7 @@ MONDO:0012916 oboInOwl:hasExactSynonym "monosomy 2p15p16.1" MONDO:0012916 oboInOwl:hasExactSynonym "monosomy 2p15-p16.1" MONDO:0012916 oboInOwl:hasExactSynonym "2p15p16.1 microdeletion syndrome" MONDO:0012916 oboInOwl:hasExactSynonym "Del(2)(p15p16.1)" +MONDO:0012916 oboInOwl:hasExactSynonym "chromosome 2p16.1-p15 deletion syndrome, isolated cases" CHEBI:29985 oboInOwl:hasExactSynonym "L-glutamate(1-)" CHEBI:29985 oboInOwl:hasExactSynonym "hydrogen L-glutamate" MONDO:0020072 oboInOwl:hasExactSynonym "childhood-onset epilepsy syndrome" @@ -162953,15 +165011,18 @@ MONDO:0002365 oboInOwl:hasExactSynonym "kidney spindle cell tumor" MONDO:0005741 oboInOwl:hasExactSynonym "allergy to eggs" MONDO:0005741 oboInOwl:hasExactSynonym "egg allergic disease" MONDO:0005741 oboInOwl:hasExactSynonym "allergy of egg" +MONDO:0020786 oboInOwl:hasExactSynonym "short sleep, familial natural, 2" MONDO:0011667 oboInOwl:hasExactSynonym "MODY type 4" MONDO:0011667 oboInOwl:hasExactSynonym "PDX1-associated monogenic diabetes" MONDO:0011667 oboInOwl:hasExactSynonym "PDX1 maturity-onset diabetes of the young (disease)" MONDO:0011667 oboInOwl:hasExactSynonym "MODY4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011667 oboInOwl:hasExactSynonym "maturity-onset diabetes of the young (disease) caused by mutation in PDX1" +MONDO:0011667 oboInOwl:hasExactSynonym "MODY, type IV" MONDO:0011667 oboInOwl:hasExactSynonym "maturity onset diabetes of the Young, type 4" MONDO:0024542 oboInOwl:hasExactSynonym "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0024542 oboInOwl:hasExactSynonym "dysequilibrium syndrome caused by mutation in VLDLR" MONDO:0024542 oboInOwl:hasExactSynonym "VLDLR dysequilibrium syndrome" +MONDO:0024542 oboInOwl:hasExactSynonym "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1" MONDO:0024542 oboInOwl:hasExactSynonym "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1" MONDO:0024542 oboInOwl:hasExactSynonym "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1" MONDO:0003481 oboInOwl:hasExactSynonym "dysgerminoma of the ovary" @@ -162985,6 +165046,7 @@ MONDO:0010265 oboInOwl:hasExactSynonym "OFD1 Simpson-Golabi-Behmel syndrome" MONDO:0010265 oboInOwl:hasExactSynonym "SGBS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010265 oboInOwl:hasExactSynonym "lethal variant of Simpson-Golabi-Behmel syndrome" MONDO:0010265 oboInOwl:hasExactSynonym "Simpson-Golabi-Behmel syndrome caused by mutation in OFD1" +MONDO:0010265 oboInOwl:hasExactSynonym "Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive" MONDO:0001332 oboInOwl:hasExactSynonym "Hench-Rosenberg syndrome" MONDO:0001332 oboInOwl:hasExactSynonym "Hench's syndrome" GO:0034763 oboInOwl:hasExactSynonym "negative regulation of membrane transport" @@ -163023,6 +165085,7 @@ MONDO:0014092 oboInOwl:hasExactSynonym "chromosome 7q36.3 Duplication syndrome, MONDO:0014092 oboInOwl:hasExactSynonym "schizophrenia type 18" MONDO:0014092 oboInOwl:hasExactSynonym "SCZD18" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014092 oboInOwl:hasExactSynonym "schizophrenia 18" +MONDO:0014092 oboInOwl:hasExactSynonym "schizophrenia susceptibility 18" MONDO:0010580 oboInOwl:hasExactSynonym "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked" MONDO:0010580 oboInOwl:hasExactSynonym "DMSD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010580 oboInOwl:hasExactSynonym "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea" @@ -163038,6 +165101,7 @@ MONDO:0010580 oboInOwl:hasExactSynonym "autoimmunity-immunodeficiency syndrome, MONDO:0010580 oboInOwl:hasExactSynonym "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked" MONDO:0010580 oboInOwl:hasExactSynonym "XLAAD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010580 oboInOwl:hasExactSynonym "IDDM-secretory diarrhea syndrome" +MONDO:0010580 oboInOwl:hasExactSynonym "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive" MONDO:0100406 oboInOwl:hasExactSynonym "AML, inv(16)(p13.3;q24.3)" MONDO:0100406 oboInOwl:hasExactSynonym "AML, inv(16)(p13q24)" MONDO:0100406 oboInOwl:hasExactSynonym "AML, inv(16)(p13;q24)" @@ -163050,6 +165114,7 @@ MONDO:0011727 oboInOwl:hasExactSynonym "anorexia nervosa, susceptibility to, 1" MONDO:0010957 oboInOwl:hasExactSynonym "agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations" MONDO:0010957 oboInOwl:hasExactSynonym "agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0033669 oboInOwl:hasExactSynonym "NS13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011903 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 2J" MONDO:0011903 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2J" MONDO:0011903 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities" MONDO:0011903 oboInOwl:hasExactSynonym "CMT2J" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -163057,6 +165122,7 @@ MONDO:0016036 oboInOwl:hasExactSynonym "plantar fibromatosis" GO:0002009 oboInOwl:hasExactSynonym "epithelium morphogenesis" MONDO:0013906 oboInOwl:hasExactSynonym "amelogenesis imperfecta hypomaturation type IIA4" MONDO:0013906 oboInOwl:hasExactSynonym "amelogenesis imperfecta caused by mutation in ODAPH" +MONDO:0013906 oboInOwl:hasExactSynonym "amelogenesis imperfecta, type IIA4" MONDO:0013906 oboInOwl:hasExactSynonym "amelogenesis imperfecta type IIA4" MONDO:0013906 oboInOwl:hasExactSynonym "AI2A4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013906 oboInOwl:hasExactSynonym "ODAPH amelogenesis imperfecta" @@ -163066,6 +165132,7 @@ MONDO:0014100 oboInOwl:hasExactSynonym "dilated cardiomyopathy caused by mutatio MONDO:0014100 oboInOwl:hasExactSynonym "CMD1KK" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014100 oboInOwl:hasExactSynonym "dilated cardiomyopathy type 1KK" MONDO:0014100 oboInOwl:hasExactSynonym "cardiomyopathy, dilated, type 1Kk" +MONDO:0014100 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 22" MONDO:0030529 oboInOwl:hasExactSynonym "AGM10" http://purl.obolibrary.org/obo/mondo#ABBREVIATION GO:0038064 oboInOwl:hasExactSynonym "transmembrane collagen receptor activity" GO:0061983 oboInOwl:hasExactSynonym "second meiotic division" @@ -163079,6 +165146,7 @@ MONDO:0004598 oboInOwl:hasExactSynonym "cor pulmonale, acute" MONDO:0014911 oboInOwl:hasExactSynonym "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH" MONDO:0014911 oboInOwl:hasExactSynonym "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy" MONDO:0014911 oboInOwl:hasExactSynonym "GRIDHH" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0014911 oboInOwl:hasExactSynonym "growth retardation, impaired intellectual development, hypotonia, and hepatopathy" CHEBI:67012 oboInOwl:hasExactSynonym "(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoate" MONDO:0013341 oboInOwl:hasExactSynonym "methylmalonic acidemia caused by mutation in CD320" MONDO:0013341 oboInOwl:hasExactSynonym "CD320 methylmalonic acidemia" @@ -163120,6 +165188,7 @@ MONDO:0060641 oboInOwl:hasExactSynonym "neurodevelopmental disorder with or with MONDO:0014782 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, type 2X" MONDO:0014782 oboInOwl:hasExactSynonym "LGMD2X" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014782 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, type 2x" +MONDO:0014782 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal recessive 25" MONDO:0014782 oboInOwl:hasExactSynonym "BVES autosomal recessive limb-girdle muscular dystrophy" MONDO:0014782 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome" MONDO:0014782 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES" @@ -163127,30 +165196,31 @@ MONDO:0016897 oboInOwl:hasExactSynonym "partial monosomy of the short arm of chr MONDO:0016897 oboInOwl:hasExactSynonym "partial deletion of chromosome 19p" MONDO:0016897 oboInOwl:hasExactSynonym "partial monosomy of chromosome 19p" MONDO:0016897 oboInOwl:hasExactSynonym "partial deletion of the short arm of chromosome type 19" -MONDO:0011669 oboInOwl:hasExactSynonym "HCS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0011669 oboInOwl:hasExactSynonym "hypotonia-cystinuria syndrome type 1" -MONDO:0011669 oboInOwl:hasExactSynonym "cystinuria with mitochondrial disease" MONDO:0011669 oboInOwl:hasExactSynonym "hypotonia-cystinuria syndrome" +MONDO:0011669 oboInOwl:hasExactSynonym "cystinuria with mitochondrial disease" MONDO:0011669 oboInOwl:hasExactSynonym "hypotonia-cystinuria type 1 syndrome" +MONDO:0011669 oboInOwl:hasExactSynonym "hypotonia-cystinuria syndrome type 1" +MONDO:0011669 oboInOwl:hasExactSynonym "HCS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000373 oboInOwl:hasExactSynonym "stage 0 gall bladder carcinoma" MONDO:0000373 oboInOwl:hasExactSynonym "gall bladder in situ carcinoma" MONDO:0000373 oboInOwl:hasExactSynonym "carcinoma in situ of gall bladder" MONDO:0006276 oboInOwl:hasExactSynonym "lung inflammatory myofibroblastic tumor" +MONDO:0600014 oboInOwl:hasExactSynonym "ACD without misalignment" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0020389 oboInOwl:hasExactSynonym "APV/PDA, non-Fallot type" MONDO:0020389 oboInOwl:hasExactSynonym "absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome" MONDO:0020389 oboInOwl:hasExactSynonym "PVA/PDA, non-Fallot type" -MONDO:0600014 oboInOwl:hasExactSynonym "ACD without misalignment" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018926 oboInOwl:hasExactSynonym "transmissible spongiform encephalopathy" MONDO:0018926 oboInOwl:hasExactSynonym "TSE" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009305 oboInOwl:hasExactSynonym "granulocytopenia with immunoglobulin abnormality" -MONDO:0003767 oboInOwl:hasExactSynonym "mitral valve disease or disorder" -MONDO:0003767 oboInOwl:hasExactSynonym "mitral valve disorder" +MONDO:0009305 oboInOwl:hasExactSynonym "immunodeficiency 59 and hypoglycemia" MONDO:0003767 oboInOwl:hasExactSynonym "chronic rheumatic mitral valve" -MONDO:0003767 oboInOwl:hasExactSynonym "mitral RH valve dis." -MONDO:0003767 oboInOwl:hasExactSynonym "disease of mitral valve" +MONDO:0003767 oboInOwl:hasExactSynonym "disease or disorder of mitral valve" MONDO:0003767 oboInOwl:hasExactSynonym "disorder of mitral valve" +MONDO:0003767 oboInOwl:hasExactSynonym "mitral valve disorder" +MONDO:0003767 oboInOwl:hasExactSynonym "mitral RH valve dis." MONDO:0003767 oboInOwl:hasExactSynonym "mitral valve disease" -MONDO:0003767 oboInOwl:hasExactSynonym "disease or disorder of mitral valve" +MONDO:0003767 oboInOwl:hasExactSynonym "mitral valve disease or disorder" +MONDO:0003767 oboInOwl:hasExactSynonym "disease of mitral valve" MONDO:0014398 oboInOwl:hasExactSynonym "TARS2 combined oxidative phosphorylation deficiency" MONDO:0014398 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency caused by mutation in TARS2" MONDO:0014398 oboInOwl:hasExactSynonym "COXPD21" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -163167,6 +165237,7 @@ MONDO:0100398 oboInOwl:hasExactSynonym "AML, inv(3)(q21.3;q26.2)" MONDO:0024711 oboInOwl:hasExactSynonym "malignant MEST" MONDO:0024711 oboInOwl:hasExactSynonym "mixed epithelial stromal tumor of the kidney, malignant" MONDO:0024711 oboInOwl:hasExactSynonym "malignant mixed epithelial stromal tumor of the kidney" +MONDO:0020625 oboInOwl:hasExactSynonym "blood group, Wright" MONDO:0100281 oboInOwl:hasExactSynonym "macroglobulinemia, waldenstrom, susceptibility to, 1" MONDO:0100281 oboInOwl:hasExactSynonym "macroglobulinemia, Waldenstrom, somatic" MONDO:0100281 oboInOwl:hasExactSynonym "WM1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -163178,12 +165249,20 @@ MONDO:0006347 oboInOwl:hasExactSynonym "pancreatic large cell NEC" MONDO:0006347 oboInOwl:hasExactSynonym "pancreatic large cell NEC G3" MONDO:0006347 oboInOwl:hasExactSynonym "large cell neuroendocrine carcinoma of pancreas" MONDO:0008250 oboInOwl:hasExactSynonym "IGHD II" -MONDO:0008250 oboInOwl:hasExactSynonym "congenital isolated growth hormone deficiency type II" +MONDO:0008250 oboInOwl:hasExactSynonym "growth hormone deficiency, isolated, type II" MONDO:0008250 oboInOwl:hasExactSynonym "congenital IGHD type II" -MONDO:0008250 oboInOwl:hasExactSynonym "autosomal dominant isolated growth hormone deficiency" -MONDO:0008250 oboInOwl:hasExactSynonym "congenital isolated GH deficiency type II" MONDO:0008250 oboInOwl:hasExactSynonym "autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency" +MONDO:0008250 oboInOwl:hasExactSynonym "congenital isolated growth hormone deficiency type II" +MONDO:0008250 oboInOwl:hasExactSynonym "congenital isolated GH deficiency type II" +MONDO:0008250 oboInOwl:hasExactSynonym "autosomal dominant isolated growth hormone deficiency" MONDO:0031014 oboInOwl:hasExactSynonym "autoimmune gastritis (disease)" +MONDO:0009723 oboInOwl:hasExactSynonym "Leigh syndrome" +MONDO:0009723 oboInOwl:hasExactSynonym "Leigh disease" +MONDO:0009723 oboInOwl:hasExactSynonym "Leigh's disease" +MONDO:0009723 oboInOwl:hasExactSynonym "infantile subacute necrotizing encephalopathy" +MONDO:0009723 oboInOwl:hasExactSynonym "infantile necrotizing encephalomyelopathy" +MONDO:0009723 oboInOwl:hasExactSynonym "juvenile subacute necrotizing encephalomyelopathy" +MONDO:0009723 oboInOwl:hasExactSynonym "LS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION CHEBI:17137 oboInOwl:hasExactSynonym "hydrogen(trioxidosulfate)(1-)" CHEBI:17137 oboInOwl:hasExactSynonym "hydroxidodioxidosulfate(1-)" CHEBI:17137 oboInOwl:hasExactSynonym "monohydrogentrioxosulfate" @@ -163196,15 +165275,9 @@ GO:0031400 oboInOwl:hasExactSynonym "down-regulation of protein modification" MONDO:0012908 oboInOwl:hasExactSynonym "complement component 6 deficiency" MONDO:0012908 oboInOwl:hasExactSynonym "classic complement early component deficiency caused by mutation in C6" MONDO:0012908 oboInOwl:hasExactSynonym "C6 classic complement early component deficiency" -MONDO:0009723 oboInOwl:hasExactSynonym "Leigh syndrome" -MONDO:0009723 oboInOwl:hasExactSynonym "Leigh disease" -MONDO:0009723 oboInOwl:hasExactSynonym "Leigh's disease" -MONDO:0009723 oboInOwl:hasExactSynonym "infantile subacute necrotizing encephalopathy" -MONDO:0009723 oboInOwl:hasExactSynonym "infantile necrotizing encephalomyelopathy" -MONDO:0009723 oboInOwl:hasExactSynonym "juvenile subacute necrotizing encephalomyelopathy" -MONDO:0009723 oboInOwl:hasExactSynonym "LS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010430 oboInOwl:hasExactSynonym "mental retardation, X-linked type 97" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010430 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 97" +MONDO:0010430 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 97" MONDO:0010430 oboInOwl:hasExactSynonym "intellectual disability, X-linked 97" MONDO:0010430 oboInOwl:hasExactSynonym "non-syndromic X-linked intellectual disability caused by mutation in ZNF711" MONDO:0010430 oboInOwl:hasExactSynonym "ZNF711 non-syndromic X-linked intellectual disability" @@ -163313,6 +165386,7 @@ MONDO:0005837 oboInOwl:hasExactSynonym "malignant neoplasm of mandible" MONDO:0005837 oboInOwl:hasExactSynonym "cancer of mandible" MONDO:0100038 oboInOwl:hasExactSynonym "complex neurodevelopmental disorder" MONDO:0011929 oboInOwl:hasExactSynonym "deletion 1p36" +MONDO:0011929 oboInOwl:hasExactSynonym "chromosome 1p36 deletion syndrome, distal, isolated cases" MONDO:0011929 oboInOwl:hasExactSynonym "subtelomeric 1p36 deletion" MONDO:0011929 oboInOwl:hasExactSynonym "chromosome 1p36 deletion syndrome" MONDO:0011929 oboInOwl:hasExactSynonym "deletion 1pter" @@ -163500,8 +165574,8 @@ MONDO:0017361 oboInOwl:hasExactSynonym "fetal rubella syndrome" MONDO:0017361 oboInOwl:hasExactSynonym "congenital rubella" MONDO:0017361 oboInOwl:hasExactSynonym "rubella congenital" MONDO:0017361 oboInOwl:hasExactSynonym "congenital rubella syndrome" -MONDO:0060670 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis, susceptibility to, 25" GO:0043565 oboInOwl:hasExactSynonym "sequence specific DNA binding" +MONDO:0060670 oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis, susceptibility to, 25" MONDO:0004787 oboInOwl:hasExactSynonym "cervical Müllerian papilloma" MONDO:0004787 oboInOwl:hasExactSynonym "cervical Mullerian papilloma" MONDO:0004787 oboInOwl:hasExactSynonym "cervical Muellerian papilloma" @@ -163552,6 +165626,7 @@ MONDO:0015286 oboInOwl:hasExactSynonym "CDG" http://purl.obolibrary.org/obo/mond MONDO:0015286 oboInOwl:hasExactSynonym "carbohydrate-deficient glycoprotein syndrome" MONDO:0015286 oboInOwl:hasExactSynonym "carbohydrate deficient glycoprotein syndrome" MONDO:0033642 oboInOwl:hasExactSynonym "NEDABA" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0033642 oboInOwl:hasExactSynonym "Bachmann-Bupp syndrome" GO:0001805 oboInOwl:hasExactSynonym "upregulation of type III hypersensitivity" GO:0001805 oboInOwl:hasExactSynonym "up regulation of type III hypersensitivity" GO:0001805 oboInOwl:hasExactSynonym "up-regulation of type III hypersensitivity" @@ -163568,8 +165643,8 @@ MONDO:0014920 oboInOwl:hasExactSynonym "Martinique crinkled retinal pigment epit MONDO:0044643 oboInOwl:hasExactSynonym "congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome" MONDO:0002156 oboInOwl:hasExactSynonym "fallopian tube disorder" MONDO:0002156 oboInOwl:hasExactSynonym "disease or disorder of fallopian tube" -MONDO:0002156 oboInOwl:hasExactSynonym "disease of fallopian tube" MONDO:0002156 oboInOwl:hasExactSynonym "fallopian tube disease" +MONDO:0002156 oboInOwl:hasExactSynonym "disease of fallopian tube" MONDO:0002156 oboInOwl:hasExactSynonym "fallopian tube disease or disorder" MONDO:0002156 oboInOwl:hasExactSynonym "disorder of fallopian tube" MONDO:0015012 oboInOwl:hasExactSynonym "MPSPS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -163641,6 +165716,7 @@ MONDO:0002522 oboInOwl:hasExactSynonym "tenosynovial giant cell neoplasm" MONDO:0002522 oboInOwl:hasExactSynonym "tendon sheath giant cell tumor" MONDO:0010235 oboInOwl:hasExactSynonym "PPM-X" MONDO:0010235 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndromic type 13" +MONDO:0010235 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked, syndromic 13, X-linked recessive" MONDO:0010235 oboInOwl:hasExactSynonym "Lindsay-Burn syndrome" MONDO:0010235 oboInOwl:hasExactSynonym "X-linked intellectual disability with spasticity" MONDO:0010235 oboInOwl:hasExactSynonym "intellectual disability, X-linked, syndromic 13" @@ -163666,7 +165742,6 @@ MONDO:0022428 oboInOwl:hasExactSynonym "pulmonary aluminosis" MONDO:0017035 oboInOwl:hasExactSynonym "secondary ILD in childhood and adulthood associated with a systemic disease" HP:0000610 oboInOwl:hasExactSynonym "Abnormality of the choroid" MONDO:0008220 oboInOwl:hasExactSynonym "pepsinogen 3, Group type 1" -MONDO:0020585 oboInOwl:hasExactSynonym "anemia due to erythrocyte enzyme disorder" MONDO:0021627 oboInOwl:hasExactSynonym "capillary angioma of lid" MONDO:0021627 oboInOwl:hasExactSynonym "capillary hemangioma of the eyelid" MONDO:0021627 oboInOwl:hasExactSynonym "capillary angioma of the lid" @@ -163677,9 +165752,10 @@ MONDO:0021627 oboInOwl:hasExactSynonym "capillary hemangioma of eyelid" MONDO:0021627 oboInOwl:hasExactSynonym "capillary hemangioma of the lid" MONDO:0021627 oboInOwl:hasExactSynonym "capillary angioma of eyelid" MONDO:0021627 oboInOwl:hasExactSynonym "eyelid capillary angioma" -MONDO:0001120 oboInOwl:hasExactSynonym "frontal sinusitis, chronic" +MONDO:0020585 oboInOwl:hasExactSynonym "anemia due to erythrocyte enzyme disorder" CHEBI:24995 oboInOwl:hasExactSynonym "lactams" CHEBI:24995 oboInOwl:hasExactSynonym "lactam" +MONDO:0001120 oboInOwl:hasExactSynonym "frontal sinusitis, chronic" MONDO:0007023 oboInOwl:hasExactSynonym "yersiniosis" MONDO:0007023 oboInOwl:hasExactSynonym "Yersinia infection" MONDO:0037821 oboInOwl:hasExactSynonym "disorder of porphyrin-containing compound metabolic process" @@ -163711,6 +165787,7 @@ MONDO:0009661 oboInOwl:hasExactSynonym "Maroteaux-Lamy syndrome" MONDO:0009661 oboInOwl:hasExactSynonym "mucopolysaccharidosis type VI" MONDO:0009661 oboInOwl:hasExactSynonym "MPSVI" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009661 oboInOwl:hasExactSynonym "ASB deficiency" +MONDO:0009661 oboInOwl:hasExactSynonym "mucopolysaccharidosis type VI (Maroteaux-Lamy)" MONDO:0009661 oboInOwl:hasExactSynonym "MPS VI - Maroteaux-Lamy syndrome" MONDO:0009661 oboInOwl:hasExactSynonym "MPS6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009661 oboInOwl:hasExactSynonym "Maroteaux-Lamy disease" @@ -163718,29 +165795,30 @@ MONDO:0009661 oboInOwl:hasExactSynonym "ARSB deficiency" MONDO:0009661 oboInOwl:hasExactSynonym "N-acetylgalactosamine 4-sulfatase deficiency" MONDO:0009661 oboInOwl:hasExactSynonym "Maroteaux - Lamy syndrome" MONDO:0004648 oboInOwl:hasExactSynonym "vascular dementia" +MONDO:0000751 oboInOwl:hasExactSynonym "adenomatous polyp of the uterine cervix" MONDO:0000751 oboInOwl:hasExactSynonym "polyp of cervix uteri" +MONDO:0000751 oboInOwl:hasExactSynonym "polyp of uterine cervix" +MONDO:0000751 oboInOwl:hasExactSynonym "adenomatous polyp of uterine cervix" +MONDO:0000751 oboInOwl:hasExactSynonym "polyp of cervix" +MONDO:0000751 oboInOwl:hasExactSynonym "polyp of the cervix uteri" MONDO:0000751 oboInOwl:hasExactSynonym "uterine cervix adenomatous polyp" -MONDO:0000751 oboInOwl:hasExactSynonym "adenomatous polyp of the uterine cervix" +MONDO:0000751 oboInOwl:hasExactSynonym "cervical polyp" +MONDO:0000751 oboInOwl:hasExactSynonym "cervical polyp (disease)" MONDO:0000751 oboInOwl:hasExactSynonym "uterine cervix polyp" -MONDO:0000751 oboInOwl:hasExactSynonym "cervix adenomatous polyp" MONDO:0000751 oboInOwl:hasExactSynonym "cervix polyp" +MONDO:0000751 oboInOwl:hasExactSynonym "polyp of the uterine cervix" MONDO:0000751 oboInOwl:hasExactSynonym "cervix uteri adenomatous polyp" -MONDO:0000751 oboInOwl:hasExactSynonym "adenomatous polyp of uterine cervix" +MONDO:0000751 oboInOwl:hasExactSynonym "adenomatous polyp of cervix" MONDO:0000751 oboInOwl:hasExactSynonym "cervix uteri polyp" MONDO:0000751 oboInOwl:hasExactSynonym "polyp of the cervix" -MONDO:0000751 oboInOwl:hasExactSynonym "polyp of uterine cervix" +MONDO:0000751 oboInOwl:hasExactSynonym "cervix adenomatous polyp" MONDO:0000751 oboInOwl:hasExactSynonym "adenomatous polyp of the cervix" -MONDO:0000751 oboInOwl:hasExactSynonym "cervical polyp (disease)" -MONDO:0000751 oboInOwl:hasExactSynonym "cervical polyp" -MONDO:0000751 oboInOwl:hasExactSynonym "adenomatous polyp of cervix" -MONDO:0000751 oboInOwl:hasExactSynonym "polyp of cervix" -MONDO:0000751 oboInOwl:hasExactSynonym "polyp of the uterine cervix" -MONDO:0000751 oboInOwl:hasExactSynonym "polyp of the cervix uteri" PATO:0001547 oboInOwl:hasExactSynonym "gaseous" MONDO:0012280 oboInOwl:hasExactSynonym "megacolon-microcephaly syndrome" MONDO:0012280 oboInOwl:hasExactSynonym "GOSHS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012280 oboInOwl:hasExactSynonym "Goldberg-Shprintzen megacolon syndrome" MONDO:0032678 oboInOwl:hasExactSynonym "EIEE71" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0032678 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 71" MONDO:0032678 oboInOwl:hasExactSynonym "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71" MONDO:0032678 oboInOwl:hasExactSynonym "DEE71" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0032678 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 71" @@ -163748,6 +165826,7 @@ HP:0002815 oboInOwl:hasExactSynonym "Abnormality of the knee" http://purl.obolib MONDO:0020294 oboInOwl:hasExactSynonym "atrial defect and interauricular communication" MONDO:0010058 oboInOwl:hasExactSynonym "spinal muscular atrophy, scapuloperoneal" MONDO:0012258 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex with migratory circinate erythema" +MONDO:0012258 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex 2E, with migratory circinate erythema" MONDO:0012258 oboInOwl:hasExactSynonym "EBS-migr" MONDO:0014227 oboInOwl:hasExactSynonym "Cole disease" MONDO:0014227 oboInOwl:hasExactSynonym "hypopigmentation and punctate keratosis of the palms and soles" @@ -163808,7 +165887,9 @@ MONDO:0011225 oboInOwl:hasExactSynonym "DCLRE1C severe combined immunodeficiency MONDO:0011225 oboInOwl:hasExactSynonym "severe combined immunodeficiency due to ARTEMIS deficiency" MONDO:0014448 oboInOwl:hasExactSynonym "familial Dysalbuminemic hyperthyroidism" MONDO:0014448 oboInOwl:hasExactSynonym "hyperthyroxinemia, familial Dysalbuminemic" +MONDO:0014448 oboInOwl:hasExactSynonym "dysalbuminemic hypertriiodothyroninemia" MONDO:0014448 oboInOwl:hasExactSynonym "bisalbuminemia" +MONDO:0014448 oboInOwl:hasExactSynonym "dysalbuminemic hyperthyroxinemia" MONDO:0014448 oboInOwl:hasExactSynonym "familial Dysalbuminemic hyperthyroxinemia" MONDO:0014448 oboInOwl:hasExactSynonym "hyperthyroxinemia, familial dysalbuminemic" MONDO:0018029 oboInOwl:hasExactSynonym "hereditary factor XIII deficiency disease" @@ -163854,6 +165935,7 @@ MONDO:0023670 oboInOwl:hasExactSynonym "BBS20" http://purl.obolibrary.org/obo/mo MONDO:0010487 oboInOwl:hasExactSynonym "mental retardation, X-linked type 99" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010487 oboInOwl:hasExactSynonym "non-syndromic X-linked intellectual disability caused by mutation in USP9X" MONDO:0010487 oboInOwl:hasExactSynonym "intellectual disability, X-linked 99" +MONDO:0010487 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 99, X-linked recessive" MONDO:0010487 oboInOwl:hasExactSynonym "USP9X non-syndromic X-linked intellectual disability" MONDO:0010487 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 99" MONDO:0020552 oboInOwl:hasExactSynonym "placental-site gestational trophoblastic tumor" @@ -163898,6 +165980,7 @@ MONDO:0016904 oboInOwl:hasExactSynonym "partial deletion of the long arm of chro MONDO:0011091 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease neuronal type 2D" MONDO:0011091 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth neuropathy type 2D" MONDO:0011091 oboInOwl:hasExactSynonym "autosomal dominant Charcot-Marie-Tooth disease type 2D" +MONDO:0011091 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease, type 2D" MONDO:0011091 oboInOwl:hasExactSynonym "GARS Charcot-Marie-Tooth disease type 2" MONDO:0011091 oboInOwl:hasExactSynonym "CMT2D" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011091 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 2 caused by mutation in GARS" @@ -163968,6 +166051,7 @@ MONDO:0004293 oboInOwl:hasExactSynonym "supraglottis epidermoid carcinoma" MONDO:0013153 oboInOwl:hasExactSynonym "inflammatory bowel disease, early-onset, autosomal recessive" MONDO:0013153 oboInOwl:hasExactSynonym "IBD28" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013153 oboInOwl:hasExactSynonym "inflammatory bowel disease 28, autosomal recessive" +MONDO:0013153 oboInOwl:hasExactSynonym "inflammatory bowel disease 28, early onset, autosomal recessive" MONDO:0013153 oboInOwl:hasExactSynonym "inflammatory bowel disease 28" MONDO:0013153 oboInOwl:hasExactSynonym "early onset autosomal recessive inflammatory bowel disease 28" MONDO:0013153 oboInOwl:hasExactSynonym "inflammatory bowel disease type 28" @@ -164021,6 +166105,7 @@ MONDO:0010266 oboInOwl:hasExactSynonym "mental retardation, X-linked type 58" ht MONDO:0010266 oboInOwl:hasExactSynonym "non-syndromic X-linked intellectual disability caused by mutation in TSPAN7" MONDO:0010266 oboInOwl:hasExactSynonym "intellectual disability, X-linked 58" MONDO:0010266 oboInOwl:hasExactSynonym "TSPAN7 non-syndromic X-linked intellectual disability" +MONDO:0010266 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 58, X-linked recessive" MONDO:0024660 oboInOwl:hasExactSynonym "adenoma, tubular cell, benign" MONDO:0024660 oboInOwl:hasExactSynonym "tubular adenoma" GO:0019362 oboInOwl:hasExactSynonym "pyridine nucleotide metabolism" @@ -164035,13 +166120,15 @@ MONDO:0009484 oboInOwl:hasExactSynonym "primary ciliary dyskinesia 1" MONDO:0009484 oboInOwl:hasExactSynonym "primary ciliary dyskinesia 1 with or without situs inversus" MONDO:0009484 oboInOwl:hasExactSynonym "DNAI1 primary ciliary dyskinesia" MONDO:0009484 oboInOwl:hasExactSynonym "primary ciliary dyskinesia caused by mutation in DNAI1" -MONDO:0011668 oboInOwl:hasExactSynonym "neurogenic differentiation Factor 1-associated monogenic diabetes" +MONDO:0020787 oboInOwl:hasExactSynonym "hypomagnesemia, seizures, and mental retardation" +MONDO:0011668 oboInOwl:hasExactSynonym "MODY type 6" MONDO:0011668 oboInOwl:hasExactSynonym "NEUROD1 maturity-onset diabetes of the young (disease)" -MONDO:0011668 oboInOwl:hasExactSynonym "MODY6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011668 oboInOwl:hasExactSynonym "maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1" -MONDO:0011668 oboInOwl:hasExactSynonym "maturity onset diabetes of the Young, type 6" MONDO:0011668 oboInOwl:hasExactSynonym "NEUROD1-associated monogenic diabetes" -MONDO:0011668 oboInOwl:hasExactSynonym "MODY type 6" +MONDO:0011668 oboInOwl:hasExactSynonym "neurogenic differentiation Factor 1-associated monogenic diabetes" +MONDO:0011668 oboInOwl:hasExactSynonym "MODY6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011668 oboInOwl:hasExactSynonym "maturity onset diabetes of the Young, type 6" +MONDO:0011668 oboInOwl:hasExactSynonym "maturity-onset diabetes of the young 6" MONDO:0021491 oboInOwl:hasExactSynonym "benign gum tumor" MONDO:0021491 oboInOwl:hasExactSynonym "benign tumor of gingiva" MONDO:0021491 oboInOwl:hasExactSynonym "benign gingival tumor" @@ -164054,14 +166141,15 @@ MONDO:0021491 oboInOwl:hasExactSynonym "benign neoplasm of the gum" MONDO:0021491 oboInOwl:hasExactSynonym "benign neoplasm of gingiva" MONDO:0021491 oboInOwl:hasExactSynonym "benign gum neoplasm" MONDO:0021491 oboInOwl:hasExactSynonym "benign tumor of gum" +MONDO:0003989 oboInOwl:hasExactSynonym "ovarian polyembryoma" MONDO:0030801 oboInOwl:hasExactSynonym "monosomy 7 myelodysplasia and leukemia syndrome 2" MONDO:0030801 oboInOwl:hasExactSynonym "M7MLS2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0003989 oboInOwl:hasExactSynonym "ovarian polyembryoma" MONDO:0014093 oboInOwl:hasExactSynonym "retinitis pigmentosa 66" MONDO:0014093 oboInOwl:hasExactSynonym "retinitis pigmentosa caused by mutation in RBP3" MONDO:0014093 oboInOwl:hasExactSynonym "RBP3 retinitis pigmentosa" MONDO:0014093 oboInOwl:hasExactSynonym "retinitis pigmentosa type 66" MONDO:0014093 oboInOwl:hasExactSynonym "RP66" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010581 oboInOwl:hasExactSynonym "diabetes insipidus, nephrogenic, 1, X-linked recessive" MONDO:0010581 oboInOwl:hasExactSynonym "diabetes insipidus, nephrogenic, X-linked" MONDO:0024543 oboInOwl:hasExactSynonym "brittle cornea syndrome caused by mutation in ZNF469" MONDO:0024543 oboInOwl:hasExactSynonym "ZNF469 brittle cornea syndrome" @@ -164112,6 +166200,7 @@ MONDO:0016906 oboInOwl:hasExactSynonym "partial deletion of the long arm of chro MONDO:0016906 oboInOwl:hasExactSynonym "partial monosomy of the long arm of chromosome 7" MONDO:0016906 oboInOwl:hasExactSynonym "loss of chromosome 7q" MONDO:0016906 oboInOwl:hasExactSynonym "del(7q)" +MONDO:0008316 oboInOwl:hasExactSynonym "thrombophilia 3 due to protein C deficiency, autosomal dominant" MONDO:0008316 oboInOwl:hasExactSynonym "thrombophilia due to protein C deficiency, autosomal dominant" MONDO:0012831 oboInOwl:hasExactSynonym "inflammatory bowel disease 13" MONDO:0012831 oboInOwl:hasExactSynonym "inflammatory bowel disease caused by mutation in ABCB1" @@ -164120,6 +166209,7 @@ MONDO:0012831 oboInOwl:hasExactSynonym "ABCB1 inflammatory bowel disease" MONDO:0012831 oboInOwl:hasExactSynonym "IBD13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009874 oboInOwl:hasExactSynonym "Rabson-Mendenhall syndrome" MONDO:0014429 oboInOwl:hasExactSynonym "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" +MONDO:0014429 oboInOwl:hasExactSynonym "immunodeficiency 27B, mycobacteriosis, AD" MONDO:0014429 oboInOwl:hasExactSynonym "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" MONDO:0014429 oboInOwl:hasExactSynonym "IMD27B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014429 oboInOwl:hasExactSynonym "IFNGR1 deficiency, autosomal dominant" @@ -164141,6 +166231,7 @@ GO:0048609 oboInOwl:hasExactSynonym "reproductive process in a multicellular org MONDO:0020920 oboInOwl:hasExactSynonym "e coli infection" MONDO:0020920 oboInOwl:hasExactSynonym "escherichia coli infection" MONDO:0013907 oboInOwl:hasExactSynonym "bilateral generalized polymicrogyria" +MONDO:0013907 oboInOwl:hasExactSynonym "microcephaly, short stature, and polymicrogyria with seizures" MONDO:0018082 oboInOwl:hasExactSynonym "aorto-ventricular tunnel (disease)" MONDO:0018082 oboInOwl:hasExactSynonym "aorto-ventricular tunnel" MONDO:0019413 oboInOwl:hasExactSynonym "ischio-spinal dysostosis" @@ -164156,6 +166247,7 @@ MONDO:0014783 oboInOwl:hasExactSynonym "preimplantation embryonic lethality type MONDO:0014783 oboInOwl:hasExactSynonym "PREMBL1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014783 oboInOwl:hasExactSynonym "preimplantation embryonic lethality 1" MONDO:0014783 oboInOwl:hasExactSynonym "preimplantation embryonic lethality 1; PREMBL1" +MONDO:0014783 oboInOwl:hasExactSynonym "preimplantation embryonic lethality" CHEBI:58570 oboInOwl:hasExactSynonym "(2R)-2-ammonio-3-(4-hydroxyphenyl)propanoate" MONDO:0008713 oboInOwl:hasExactSynonym "acrodermatitis enteropathica, zinc deficiency type" MONDO:0008713 oboInOwl:hasExactSynonym "AEZ" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -164204,6 +166296,7 @@ MONDO:0021110 oboInOwl:hasExactSynonym "adenoma of sweat gland" GO:0002893 oboInOwl:hasExactSynonym "down regulation of type II hypersensitivity" GO:0002893 oboInOwl:hasExactSynonym "downregulation of type II hypersensitivity" GO:0002893 oboInOwl:hasExactSynonym "down-regulation of type II hypersensitivity" +MONDO:0010431 oboInOwl:hasExactSynonym "Joubert syndrome 10, X-linked recessive" MONDO:0010431 oboInOwl:hasExactSynonym "OFD1 Joubert syndrome" MONDO:0010431 oboInOwl:hasExactSynonym "Joubert syndrome type 10" MONDO:0010431 oboInOwl:hasExactSynonym "Joubert syndrome 10" @@ -164254,6 +166347,7 @@ MONDO:0100399 oboInOwl:hasExactSynonym "AML, t(3;3)(q21.3;q26.2)" MONDO:0100399 oboInOwl:hasExactSynonym "AML, t(3;3)(q21.3q26.2)" MONDO:0100399 oboInOwl:hasExactSynonym "AML, t(3;3)(q26;q21)" MONDO:0100399 oboInOwl:hasExactSynonym "AML, t(3;3)(q21;q26.2)" +MONDO:0020626 oboInOwl:hasExactSynonym "blood group, Yt system" MONDO:0011833 oboInOwl:hasExactSynonym "SCA21" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011833 oboInOwl:hasExactSynonym "spinocerebellar ataxia type 21" GO:1904427 oboInOwl:hasExactSynonym "up-regulation of transmembrane calcium transport" @@ -164280,12 +166374,12 @@ MONDO:0008251 oboInOwl:hasExactSynonym "pityriasis rubra pilaris--familial type" MONDO:0016202 oboInOwl:hasExactSynonym "rhegmatogenous retinal detachment, autosomal dominant" MONDO:0020741 oboInOwl:hasExactSynonym "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant" MONDO:0022754 oboInOwl:hasExactSynonym "partial monosomy of the short arm of chromosome type 17" +MONDO:0022754 oboInOwl:hasExactSynonym "partial deletion of chromosome 17p" MONDO:0022754 oboInOwl:hasExactSynonym "partial deletion of the short arm of chromosome 17" +MONDO:0022754 oboInOwl:hasExactSynonym "chromosome 17p deletion" MONDO:0022754 oboInOwl:hasExactSynonym "partial monosomy of chromosome 17p" MONDO:0022754 oboInOwl:hasExactSynonym "del(17p)" -MONDO:0022754 oboInOwl:hasExactSynonym "chromosome 17p deletion" MONDO:0022754 oboInOwl:hasExactSynonym "loss of chromosome 17p" -MONDO:0022754 oboInOwl:hasExactSynonym "partial deletion of chromosome 17p" MONDO:0022754 oboInOwl:hasExactSynonym "partial monosomy of the short arm of chromosome 17" GO:0031401 oboInOwl:hasExactSynonym "up regulation of protein modification" GO:0031401 oboInOwl:hasExactSynonym "upregulation of protein modification" @@ -164296,6 +166390,7 @@ MONDO:0006498 oboInOwl:hasExactSynonym "adenomatous polyp of colon" MONDO:0006498 oboInOwl:hasExactSynonym "adenomatous polyp of the colon" MONDO:0006498 oboInOwl:hasExactSynonym "colonic adenomatous polyp" MONDO:0009724 oboInOwl:hasExactSynonym "nail-patella-like renal disease" +MONDO:0009724 oboInOwl:hasExactSynonym "focal segmental glomerulosclerosis 10" MONDO:0009724 oboInOwl:hasExactSynonym "Salcedo syndrome" HP:0001679 oboInOwl:hasExactSynonym "Abnormal aorta morphology" HP:0001679 oboInOwl:hasExactSynonym "Abnormality of the aorta" @@ -164311,6 +166406,7 @@ MONDO:0007726 oboInOwl:hasExactSynonym "Cilliers-Beighton syndrome" MONDO:0007726 oboInOwl:hasExactSynonym "BFHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007726 oboInOwl:hasExactSynonym "premature degenerative osteoarthropathy of the hip" MONDO:0007726 oboInOwl:hasExactSynonym "Beukes familial hip dysplasia" +MONDO:0011728 oboInOwl:hasExactSynonym "blepharospasm, primary benign" MONDO:0010958 oboInOwl:hasExactSynonym "ankyrin-B syndrome" MONDO:0010958 oboInOwl:hasExactSynonym "long QT syndrome 4" MONDO:0010958 oboInOwl:hasExactSynonym "LQT4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -164357,6 +166453,7 @@ MONDO:0010089 oboInOwl:hasExactSynonym "ISOD" http://purl.obolibrary.org/obo/mon MONDO:0011163 oboInOwl:hasExactSynonym "CACNA1S malignant hyperthermia of anesthesia" MONDO:0011163 oboInOwl:hasExactSynonym "malignant hyperthermia of anesthesia caused by mutation in CACNA1S" MONDO:0011163 oboInOwl:hasExactSynonym "malignant hyperthermia, susceptibility to, type 5" +MONDO:0011163 oboInOwl:hasExactSynonym "malignant hyperthermia susceptibility 5" MONDO:0011163 oboInOwl:hasExactSynonym "malignant hyperthermia, susceptibility to, 5" MONDO:0008182 oboInOwl:hasExactSynonym "nasopalpebral lipoma-coloboma syndrome" MONDO:0003356 oboInOwl:hasExactSynonym "epithelioid leiomyosarcoma" @@ -164416,6 +166513,7 @@ HP:0012444 oboInOwl:hasExactSynonym "Brain wasting" http://purl.obolibrary.org/o NCBITaxon:1239 oboInOwl:hasExactSynonym "low GC Gram+" http://purl.obolibrary.org/obo/ncbitaxon#common_name NCBITaxon:1239 oboInOwl:hasExactSynonym "low G+C Gram-positive bacteria" http://purl.obolibrary.org/obo/ncbitaxon#common_name MONDO:0040674 oboInOwl:hasExactSynonym "orgasm disorder" +MONDO:0011835 oboInOwl:hasExactSynonym "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)" MONDO:0011835 oboInOwl:hasExactSynonym "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis" MONDO:0011835 oboInOwl:hasExactSynonym "EPM5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011835 oboInOwl:hasExactSynonym "epilepsy, progressive myoclonic, type 5" @@ -164462,6 +166560,7 @@ MONDO:0014977 oboInOwl:hasExactSynonym "LGMD2Z" http://purl.obolibrary.org/obo/m MONDO:0014977 oboInOwl:hasExactSynonym "limb-girdle muscular dystrophy type 2Z" MONDO:0014977 oboInOwl:hasExactSynonym "POGLUT1 autosomal recessive limb-girdle muscular dystrophy" MONDO:0014977 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, type 2Z" +MONDO:0014977 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal recessive 21" MONDO:0014977 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1" MONDO:0004484 oboInOwl:hasExactSynonym "gall bladder melanoma" MONDO:0004484 oboInOwl:hasExactSynonym "malignant melanoma of gallbladder" @@ -164474,13 +166573,13 @@ MONDO:0004484 oboInOwl:hasExactSynonym "melanoma (disease) of gall bladder" MONDO:0004484 oboInOwl:hasExactSynonym "melanoma of gallbladder" MONDO:0007883 oboInOwl:hasExactSynonym "lazy leukocyte syndrome" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0024348 oboInOwl:hasExactSynonym "pityriasis capitis" -MONDO:0009172 oboInOwl:hasExactSynonym "enterocolitis (disease)" -MONDO:0009172 oboInOwl:hasExactSynonym "enterocolitis" MONDO:0003287 oboInOwl:hasExactSynonym "leiomyoma of the central nervous system" MONDO:0003287 oboInOwl:hasExactSynonym "leiomyoma of central nervous system" MONDO:0003287 oboInOwl:hasExactSynonym "leiomyoma of the CNS" MONDO:0003287 oboInOwl:hasExactSynonym "leiomyoma of CNS" MONDO:0003287 oboInOwl:hasExactSynonym "central nervous system leiomyoma" +MONDO:0009172 oboInOwl:hasExactSynonym "enterocolitis (disease)" +MONDO:0009172 oboInOwl:hasExactSynonym "enterocolitis" MONDO:0012415 oboInOwl:hasExactSynonym "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4" MONDO:0012415 oboInOwl:hasExactSynonym "POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions" MONDO:0012415 oboInOwl:hasExactSynonym "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2" @@ -164495,20 +166594,20 @@ MONDO:0002072 oboInOwl:hasExactSynonym "MNTI" http://purl.obolibrary.org/obo/mon MONDO:0002072 oboInOwl:hasExactSynonym "melanotic neuroectodermal tumor of infancy (morphologic abnormality)" MONDO:0002072 oboInOwl:hasExactSynonym "pigmented neuroectodermal tumour of infancy" CL:0000082 oboInOwl:hasExactSynonym "lung epithelial cell" -MONDO:0006663 oboInOwl:hasExactSynonym "birth asphyxia" -MONDO:0006663 oboInOwl:hasExactSynonym "fetal asphyxia" -MONDO:0006663 oboInOwl:hasExactSynonym "perinatal asphyxia" -MONDO:0006663 oboInOwl:hasExactSynonym "asphyxia neonatorum" +MONDO:0006663 oboInOwl:hasExactSynonym "asphyxia - birth" MONDO:0006663 oboInOwl:hasExactSynonym "perinatal hypoxia" MONDO:0006663 oboInOwl:hasExactSynonym "hypoxic-ischemic encephalopathy" MONDO:0006663 oboInOwl:hasExactSynonym "postnatal asphyxia" +MONDO:0006663 oboInOwl:hasExactSynonym "perinatal depression" MONDO:0006663 oboInOwl:hasExactSynonym "intrapartum asphyxia" -MONDO:0006663 oboInOwl:hasExactSynonym "asphyxia, in liveborn infant" MONDO:0006663 oboInOwl:hasExactSynonym "hypoxia neonatorum" +MONDO:0006663 oboInOwl:hasExactSynonym "asphyxia, in liveborn infant" +MONDO:0006663 oboInOwl:hasExactSynonym "fetal asphyxia" +MONDO:0006663 oboInOwl:hasExactSynonym "perinatal asphyxia" MONDO:0006663 oboInOwl:hasExactSynonym "birth depression" -MONDO:0006663 oboInOwl:hasExactSynonym "perinatal depression" MONDO:0006663 oboInOwl:hasExactSynonym "HIE" -MONDO:0006663 oboInOwl:hasExactSynonym "asphyxia - birth" +MONDO:0006663 oboInOwl:hasExactSynonym "asphyxia neonatorum" +MONDO:0006663 oboInOwl:hasExactSynonym "birth asphyxia" GO:0005515 oboInOwl:hasExactSynonym "protein amino acid binding" MONDO:0002358 oboInOwl:hasExactSynonym "laryngeal carcinoma" MONDO:0002358 oboInOwl:hasExactSynonym "larynx carcinoma" @@ -164563,8 +166662,10 @@ MONDO:0004671 oboInOwl:hasExactSynonym "carcinoma in situ of penis" MONDO:0004671 oboInOwl:hasExactSynonym "stage 0 penile carcinoma in situ" ECTO:0000509 oboInOwl:hasExactSynonym "exposure to drug" MONDO:0011013 oboInOwl:hasExactSynonym "CASR autosomal dominant hypocalcemia" +MONDO:0011013 oboInOwl:hasExactSynonym "hypocalcemia, autosomal dominant" MONDO:0011013 oboInOwl:hasExactSynonym "hypocalcemia, autosomal dominant type 1" MONDO:0011013 oboInOwl:hasExactSynonym "autosomal dominant hypocalcemia caused by mutation in CASR" +MONDO:0011013 oboInOwl:hasExactSynonym "hypocalcemia, autosomal dominant, with Bartter syndrome" MONDO:0011013 oboInOwl:hasExactSynonym "HYPOC1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011013 oboInOwl:hasExactSynonym "autosomal dominant hypocalcemia type 1" MONDO:0003474 oboInOwl:hasExactSynonym "tanycytic ependymoma" @@ -164626,8 +166727,10 @@ MONDO:0022577 oboInOwl:hasExactSynonym "billet-bear syndrome" MONDO:0020490 oboInOwl:hasExactSynonym "Mosaic trisomy type 9" GO:0034756 oboInOwl:hasExactSynonym "regulation of Fe transport" GO:0034756 oboInOwl:hasExactSynonym "regulation of iron transport" +MONDO:0011200 oboInOwl:hasExactSynonym "dystonia-7, torsion" MONDO:0011200 oboInOwl:hasExactSynonym "torsion dystonia type 7" MONDO:0010644 oboInOwl:hasExactSynonym "proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis" +MONDO:0010644 oboInOwl:hasExactSynonym "proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, X-linked recessive" MONDO:0060671 oboInOwl:hasExactSynonym "epilepsy, juvenile myoclonic, susceptibility to, 10" CL:0000147 oboInOwl:hasExactSynonym "chromatophore" CL:0000147 oboInOwl:hasExactSynonym "chromatocyte" @@ -164728,12 +166831,14 @@ MONDO:0012417 oboInOwl:hasExactSynonym "heart-hand syndrome, Slovenian type" MONDO:0017517 oboInOwl:hasExactSynonym "short toes, unilateral" MONDO:0007024 oboInOwl:hasExactSynonym "pseudotuberculosis" MONDO:0007024 oboInOwl:hasExactSynonym "infections, Yersinia pseudotuberculosis" +MONDO:0033864 oboInOwl:hasExactSynonym "Baker-Gordon syndrome" MONDO:0009913 oboInOwl:hasExactSynonym "prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness" MONDO:0009913 oboInOwl:hasExactSynonym "prune belly syndrome with pulmonic stenosis, mental retardation, and deafness" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0016454 oboInOwl:hasExactSynonym "autosomal recessive Charcot-Marie-Tooth disease type 2B5" MONDO:0016454 oboInOwl:hasExactSynonym "SEOAN due to NEFL deficiency" MONDO:0016454 oboInOwl:hasExactSynonym "AR-CMT2B5" MONDO:0016454 oboInOwl:hasExactSynonym "severe early-onset axonal neuropathy due to light neurofilament subunit deficiency" +MONDO:0013576 oboInOwl:hasExactSynonym "kappa light chain deficiency" MONDO:0013576 oboInOwl:hasExactSynonym "recurrent infections associated with rare immunoglobulin isotypes deficiency" MONDO:0013576 oboInOwl:hasExactSynonym "kappa-chain deficiency" MONDO:0013576 oboInOwl:hasExactSynonym "IgG subclass deficiency with IgA subclass deficiency" @@ -164824,6 +166929,7 @@ MONDO:0013008 oboInOwl:hasExactSynonym "CID due to STIM1 deficiency" MONDO:0014921 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy caused by mutation in GABRB3" MONDO:0014921 oboInOwl:hasExactSynonym "EIEE43" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014921 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 43; EIEE43" +MONDO:0014921 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 43" MONDO:0014921 oboInOwl:hasExactSynonym "GABRB3 early infantile epileptic encephalopathy" MONDO:0014921 oboInOwl:hasExactSynonym "DEE43" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014921 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 43" @@ -164857,13 +166963,13 @@ CHEBI:17089 oboInOwl:hasExactSynonym "glycoproteins" CHEBI:33597 oboInOwl:hasExactSynonym "homocyclic compounds" CHEBI:33597 oboInOwl:hasExactSynonym "homocyclic compound" MONDO:0022208 oboInOwl:hasExactSynonym "crystal arthropathy" +MONDO:0019245 oboInOwl:hasExactSynonym "lipoid storage diseas" +MONDO:0019245 oboInOwl:hasExactSynonym "rare inborn error of lipid storage" MONDO:0019245 oboInOwl:hasExactSynonym "inborn error of lipid storage" MONDO:0019245 oboInOwl:hasExactSynonym "inborn lipid storage disorder" -MONDO:0019245 oboInOwl:hasExactSynonym "lipid storage disease" MONDO:0019245 oboInOwl:hasExactSynonym "lipoid storage disorder" MONDO:0019245 oboInOwl:hasExactSynonym "lipoid storage disease" -MONDO:0019245 oboInOwl:hasExactSynonym "rare inborn error of lipid storage" -MONDO:0019245 oboInOwl:hasExactSynonym "lipoid storage diseas" +MONDO:0019245 oboInOwl:hasExactSynonym "lipid storage disease" MONDO:0000344 oboInOwl:hasExactSynonym "Ross River virus infectious disease" MONDO:0000344 oboInOwl:hasExactSynonym "Ross River virus disease" MONDO:0000344 oboInOwl:hasExactSynonym "Ross River virus caused disease or disorder" @@ -164935,9 +167041,9 @@ MONDO:0006286 oboInOwl:hasExactSynonym "mucoepidermoid carcinoma of the Major sa MONDO:0006286 oboInOwl:hasExactSynonym "major salivary gland mucoepidermoid carcinoma" MONDO:0006286 oboInOwl:hasExactSynonym "mucoepidermoid carcinoma of Major salivary gland" MONDO:0006286 oboInOwl:hasExactSynonym "major salivary gland mucoepidermoid cancer" -MONDO:0024661 oboInOwl:hasExactSynonym "tubulovillous adenoma" MONDO:0018438 oboInOwl:hasExactSynonym "EGID" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0018438 oboInOwl:hasExactSynonym "primary eosinophilic gastrointestinal disease" +MONDO:0024661 oboInOwl:hasExactSynonym "tubulovillous adenoma" MONDO:0000602 oboInOwl:hasExactSynonym "blood hypersensitivity reaction type II disease" MONDO:0000602 oboInOwl:hasExactSynonym "blood autoimmune disease" GO:0071071 oboInOwl:hasExactSynonym "regulation of phospholipid biosynthesis" @@ -165023,6 +167129,7 @@ MONDO:0014949 oboInOwl:hasExactSynonym "early infantile epileptic encephalopathy MONDO:0014949 oboInOwl:hasExactSynonym "FGF12 early infantile epileptic encephalopathy" MONDO:0014949 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 47; EIEE47" MONDO:0014949 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 47" +MONDO:0014949 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 47" MONDO:0014949 oboInOwl:hasExactSynonym "EIEE47" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014949 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, type 47" MONDO:0014949 oboInOwl:hasExactSynonym "DEE47" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -165038,6 +167145,7 @@ MONDO:0010488 oboInOwl:hasExactSynonym "KIF4A non-syndromic X-linked intellectua MONDO:0010488 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 100" MONDO:0010488 oboInOwl:hasExactSynonym "intellectual disability, X-linked 100" MONDO:0010488 oboInOwl:hasExactSynonym "mental retardation, X-linked type 100" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0010488 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 100, X-linked recessive" GO:0050877 oboInOwl:hasExactSynonym "neurophysiological process" GO:0050877 oboInOwl:hasExactSynonym "neurological system process" MONDO:0016038 oboInOwl:hasExactSynonym "Juvenile aponeurotic fibrosis" @@ -165184,6 +167292,7 @@ MONDO:0009181 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex and limb-g MONDO:0009181 oboInOwl:hasExactSynonym "EBS-MD" MONDO:0009181 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex with muscular dystrophy" MONDO:0009181 oboInOwl:hasExactSynonym "limb-girdle muscular dystrophy with epidermolysis bullosa simplex" +MONDO:0009181 oboInOwl:hasExactSynonym "epidermolysis bullosa simplex 5B, with muscular dystrophy" GO:0050309 oboInOwl:hasExactSynonym "sugar-omega-phosphate phosphohydrolase activity" MONDO:0015716 oboInOwl:hasExactSynonym "moderately severe hemophilia type B" MONDO:0015716 oboInOwl:hasExactSynonym "moderately severe factor IX deficiency" @@ -165204,15 +167313,17 @@ MONDO:0002367 oboInOwl:hasExactSynonym "malignant renal neoplasm" MONDO:0002367 oboInOwl:hasExactSynonym "malignant kidney neoplasm" MONDO:0002367 oboInOwl:hasExactSynonym "cancer of kidney" MONDO:0007055 oboInOwl:hasExactSynonym "acromicric dysplasia" +GO:0019751 oboInOwl:hasExactSynonym "polyol metabolism" +GO:0019751 oboInOwl:hasExactSynonym "polyhydric alcohol metabolic process" MONDO:0020321 oboInOwl:hasExactSynonym "leukemia stem cell" MONDO:0020321 oboInOwl:hasExactSynonym "stem cell acute leukemia" MONDO:0020321 oboInOwl:hasExactSynonym "acute undifferentiated leukemia" MONDO:0020321 oboInOwl:hasExactSynonym "stem cell leukemia" MONDO:0020321 oboInOwl:hasExactSynonym "undifferentiated acute leukemia" MONDO:0020321 oboInOwl:hasExactSynonym "acute myeloid leukemia, minimal differentiation, FAB M0" -GO:0019751 oboInOwl:hasExactSynonym "polyol metabolism" -GO:0019751 oboInOwl:hasExactSynonym "polyhydric alcohol metabolic process" +MONDO:0010432 oboInOwl:hasExactSynonym "deep venous thrombosis, protection against, X-linked recessive" MONDO:0010432 oboInOwl:hasExactSynonym "thrombophilia, X-linked, due to factor 9 defect" +MONDO:0010432 oboInOwl:hasExactSynonym "thrombophilia 8, X-linked, due to factor IX defect, X-linked recessive" MONDO:0010432 oboInOwl:hasExactSynonym "thrombophilia, X-linked, due to factor IX defect" MONDO:0005743 oboInOwl:hasExactSynonym "infection by Encephalitozoon" GO:1903026 oboInOwl:hasExactSynonym "down regulation of RNA polymerase II regulatory region sequence-specific DNA binding" @@ -165270,6 +167381,7 @@ MONDO:0010653 oboInOwl:hasExactSynonym "Renpenning syndrome type 1" MONDO:0010653 oboInOwl:hasExactSynonym "syndromic X-linked intellectual disability 8" MONDO:0010653 oboInOwl:hasExactSynonym "Renpenning syndrome" MONDO:0010653 oboInOwl:hasExactSynonym "X-linked intellectual disability with spastic diplegia" +MONDO:0010653 oboInOwl:hasExactSynonym "renpenning syndrome, X-linked recessive" MONDO:0010653 oboInOwl:hasExactSynonym "X-linked mental retardation with spastic diplegia" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010653 oboInOwl:hasExactSynonym "X-linked intellectual disability due to PQBP1 mutations" MONDO:0010653 oboInOwl:hasExactSynonym "X-linked intellectual disability, Renpenning type" @@ -165280,6 +167392,7 @@ MONDO:0033613 oboInOwl:hasExactSynonym "cerebral palsy, spastic quadriplegic, 1" MONDO:0033613 oboInOwl:hasExactSynonym "cerebral palsy, spastic quadriplegic, type 1" MONDO:0011164 oboInOwl:hasExactSynonym "malignant hyperthermia, susceptibility to, 6" MONDO:0011164 oboInOwl:hasExactSynonym "malignant hyperthermia, susceptibility to, type 6" +MONDO:0011164 oboInOwl:hasExactSynonym "malignant hyperthermia susceptibility 6" MONDO:0000596 oboInOwl:hasExactSynonym "paraphilic disorder" MONDO:0000596 oboInOwl:hasExactSynonym "disorder, Paraphilic" MONDO:0000596 oboInOwl:hasExactSynonym "disorders, Paraphilic" @@ -165287,6 +167400,7 @@ MONDO:0000596 oboInOwl:hasExactSynonym "disorder of sexual preference" MONDO:0000596 oboInOwl:hasExactSynonym "paraphilia disorder" MONDO:0006499 oboInOwl:hasExactSynonym "hamartoma" MONDO:0006499 oboInOwl:hasExactSynonym "hamartoma (disease)" +MONDO:0012110 oboInOwl:hasExactSynonym "growth retardation with deafness and mental retardation due to IGF1 deficiency" MONDO:0012110 oboInOwl:hasExactSynonym "IGF-1 deficiency" MONDO:0012110 oboInOwl:hasExactSynonym "primary insulin-like growth factor deficiency" MONDO:0012110 oboInOwl:hasExactSynonym "growth delay-deafness- intellectual disability syndrome" @@ -165300,6 +167414,7 @@ MONDO:0009875 oboInOwl:hasExactSynonym "rod monochromatism 1" MONDO:0009875 oboInOwl:hasExactSynonym "rod monochromacy 1" MONDO:0009875 oboInOwl:hasExactSynonym "achromatopsia type 3" MONDO:0009875 oboInOwl:hasExactSynonym "achromatopsia 3" +MONDO:0007441 oboInOwl:hasExactSynonym "dentinogenesis imperfecta, Shields type II" MONDO:0007441 oboInOwl:hasExactSynonym "DI-2" MONDO:0007441 oboInOwl:hasExactSynonym "Capdepont teeth" MONDO:0007441 oboInOwl:hasExactSynonym "dentinogenesis imperfecta, Shields type 2" @@ -165308,10 +167423,11 @@ MONDO:0007441 oboInOwl:hasExactSynonym "DGI-2" MONDO:0011729 oboInOwl:hasExactSynonym "stroke, susceptibility to, 1" MONDO:0011729 oboInOwl:hasExactSynonym "stroke, susceptibility to, type 1" MONDO:0010959 oboInOwl:hasExactSynonym "Marden-Walker-like syndrome" -MONDO:0010959 oboInOwl:hasExactSynonym "van den Ende-Gupta syndrome" MONDO:0010959 oboInOwl:hasExactSynonym "VDEGS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0010959 oboInOwl:hasExactSynonym "van den Ende-Gupta syndrome" MONDO:0014480 oboInOwl:hasExactSynonym "46,XY Sex reversal type 9" MONDO:0014480 oboInOwl:hasExactSynonym "46,XY sex reversal 9" +MONDO:0014480 oboInOwl:hasExactSynonym "46XY sex reversal 9" MONDO:0014818 oboInOwl:hasExactSynonym "NUP205 familial nephrotic syndrome" MONDO:0014818 oboInOwl:hasExactSynonym "familial nephrotic syndrome caused by mutation in NUP205" MONDO:0014818 oboInOwl:hasExactSynonym "NPHS13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -165333,6 +167449,7 @@ MONDO:0013551 oboInOwl:hasExactSynonym "AP4B1 hereditary spastic paraplegia" MONDO:0013551 oboInOwl:hasExactSynonym "SPG47" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013551 oboInOwl:hasExactSynonym "hereditary spastic paraplegia caused by mutation in AP4B1" MONDO:0013551 oboInOwl:hasExactSynonym "hereditary spastic paraplegia 47" +MONDO:0009758 oboInOwl:hasExactSynonym "night blindness, congenital stationary (complete), 1B, autosomal recessive" MONDO:0009758 oboInOwl:hasExactSynonym "autosomal recessive complete congenital stationary night blindness" MONDO:0009758 oboInOwl:hasExactSynonym "CSNB1B" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0009758 oboInOwl:hasExactSynonym "congenital stationary night blindness 1B" @@ -165365,6 +167482,7 @@ MONDO:0001083 oboInOwl:hasExactSynonym "Fanconi syndrome" MONDO:0011593 oboInOwl:hasExactSynonym "seizures, benign familial infantile, type 2" MONDO:0011593 oboInOwl:hasExactSynonym "seizures, benign familial infantile, 2" MONDO:0020100 oboInOwl:hasExactSynonym "rare hemolytic anemia" +MONDO:0011422 oboInOwl:hasExactSynonym "renal tubular acidosis, proximal, with ocular abnormalities" MONDO:0011422 oboInOwl:hasExactSynonym "AR pRTA" MONDO:0011422 oboInOwl:hasExactSynonym "proximal renal tubular acidosis with ocular abnormalities and intellectual disability" MONDO:0011422 oboInOwl:hasExactSynonym "proximal renal tubular acidosis, autosomal recessive" @@ -165436,6 +167554,7 @@ MONDO:0014354 oboInOwl:hasExactSynonym "intellectual disability, autosomal reces MONDO:0014354 oboInOwl:hasExactSynonym "autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4" MONDO:0014354 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 43" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014354 oboInOwl:hasExactSynonym "WASHC4 autosomal recessive non-syndromic intellectual disability" +MONDO:0014354 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 43" MONDO:0012080 oboInOwl:hasExactSynonym "HSPB1 neuronopathy, distal hereditary motor" MONDO:0012080 oboInOwl:hasExactSynonym "neuronopathy, distal hereditary motor caused by mutation in HSPB1" MONDO:0009307 oboInOwl:hasExactSynonym "granulomatous disease with defect in neutrophil chemotaxis" @@ -165447,11 +167566,13 @@ MONDO:0030006 oboInOwl:hasExactSynonym "combined oxidative phosphorylation defic MONDO:0030006 oboInOwl:hasExactSynonym "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40" MONDO:0040675 oboInOwl:hasExactSynonym "myofibroblastoma" MONDO:0033372 oboInOwl:hasExactSynonym "EIEE63" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0033372 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 63" MONDO:0033372 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 63" MONDO:0033372 oboInOwl:hasExactSynonym "DEE63" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0019479 oboInOwl:hasExactSynonym "sarcoma, histiocytic, malignant" MONDO:0019479 oboInOwl:hasExactSynonym "histiocytic sarcoma" MONDO:0015582 oboInOwl:hasExactSynonym "rare pregnancy disorder" +MONDO:0008569 oboInOwl:hasExactSynonym "thyroid hormone resistance" MONDO:0008569 oboInOwl:hasExactSynonym "thyroid hormone resistance, generalized, autosomal dominant" MONDO:0018634 oboInOwl:hasExactSynonym "hereditary amyloidosis (disease)" MONDO:0018634 oboInOwl:hasExactSynonym "amyloidosis, Familial" @@ -165529,14 +167650,15 @@ MONDO:0006664 oboInOwl:hasExactSynonym "atrial septum defect" MONDO:0006664 oboInOwl:hasExactSynonym "interauricular septal defect" MONDO:0006664 oboInOwl:hasExactSynonym "interatrial septal defect" MONDO:0006664 oboInOwl:hasExactSynonym "congenital atrial septal defect" +MONDO:0007610 oboInOwl:hasExactSynonym "hypertrichosis, congenital generalized, with gingival hyperplasia" MONDO:0007610 oboInOwl:hasExactSynonym "CGHT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0007610 oboInOwl:hasExactSynonym "hypertrichosis with or without gingival hyperplasia" MONDO:0007610 oboInOwl:hasExactSynonym "congenital generalized hypertrichosis terminalis" MONDO:0007610 oboInOwl:hasExactSynonym "hirsutism-congenital gingival hyperplasia syndrome" +MONDO:0004789 oboInOwl:hasExactSynonym "biliary tree inflammation" MONDO:0004789 oboInOwl:hasExactSynonym "biliary tract infection" MONDO:0004789 oboInOwl:hasExactSynonym "cholangitis" MONDO:0004789 oboInOwl:hasExactSynonym "inflammation of biliary tree" -MONDO:0004789 oboInOwl:hasExactSynonym "biliary tree inflammation" MONDO:0008966 oboInOwl:hasExactSynonym "Aagenaes syndrome" MONDO:0008966 oboInOwl:hasExactSynonym "cholestasis-edema syndrome, Norwegian type" HP:0009115 oboInOwl:hasExactSynonym "Absent/underdeveloped skeleton" http://purl.obolibrary.org/obo/hp.obo#layperson @@ -165553,6 +167675,7 @@ HP:0000972 oboInOwl:hasExactSynonym "Hyperkeratosis of palms and soles" HP:0000972 oboInOwl:hasExactSynonym "Thickening of the outer layer of the skin of the palms and soles" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0012826 oboInOwl:hasExactSynonym "scoliosis, isolated, susceptibility to, 4" MONDO:0012826 oboInOwl:hasExactSynonym "IS4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012826 oboInOwl:hasExactSynonym "scoliosis, idiopathic, susceptibility to, 4" CHEBI:33459 oboInOwl:hasExactSynonym "pnictogen oxoanion" MONDO:0021176 oboInOwl:hasExactSynonym "type 2 AIH" MONDO:0021176 oboInOwl:hasExactSynonym "autoimmune hepatitis type 2" @@ -165594,6 +167717,7 @@ MONDO:0020491 oboInOwl:hasExactSynonym "HeCo" MONDO:0020491 oboInOwl:hasExactSynonym "subcortical laminar heterotopia" MONDO:0014285 oboInOwl:hasExactSynonym "anemia, congenital dyserythropoietic, type IB" MONDO:0014285 oboInOwl:hasExactSynonym "congenital dyserythropoietic anemia type type 1B" +MONDO:0014285 oboInOwl:hasExactSynonym "dyserythropoietic anemia, congenital, type IB" MONDO:0011899 oboInOwl:hasExactSynonym "NS/LAH" MONDO:0011899 oboInOwl:hasExactSynonym "Noonan syndrome-like disorder with loose anagen hair" MONDO:0011899 oboInOwl:hasExactSynonym "Tosti syndrome" @@ -165602,6 +167726,7 @@ MONDO:0010645 oboInOwl:hasExactSynonym "Lowe oculocerebrorenal syndrome" MONDO:0010645 oboInOwl:hasExactSynonym "oculo-cerebro-renal syndrome" MONDO:0010645 oboInOwl:hasExactSynonym "OCRL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010645 oboInOwl:hasExactSynonym "phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency" +MONDO:0010645 oboInOwl:hasExactSynonym "Lowe syndrome, X-linked recessive" MONDO:0010645 oboInOwl:hasExactSynonym "Lowe oculo-cerebro-renal syndrome" MONDO:0010645 oboInOwl:hasExactSynonym "Lowe disease" MONDO:0010645 oboInOwl:hasExactSynonym "oculo-cerebro-renal dystrophy" @@ -165626,6 +167751,7 @@ HP:0001155 oboInOwl:hasExactSynonym "Abnormality of the hand" http://purl.obolib MONDO:0015014 oboInOwl:hasExactSynonym "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness" MONDO:0015014 oboInOwl:hasExactSynonym "COMMAD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015014 oboInOwl:hasExactSynonym "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; COMMAD" +MONDO:0015014 oboInOwl:hasExactSynonym "COMMAD syndrome" MONDO:0014589 oboInOwl:hasExactSynonym "MODY13" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014589 oboInOwl:hasExactSynonym "maturity-onset diabetes of the young (disease) caused by mutation in KCNJ11" MONDO:0014589 oboInOwl:hasExactSynonym "MODY type 13" @@ -165744,6 +167870,7 @@ MONDO:0017904 oboInOwl:hasExactSynonym "Lyngstadaas syndrome" MONDO:0014064 oboInOwl:hasExactSynonym "UQCRB mitochondrial complex III deficiency" MONDO:0014064 oboInOwl:hasExactSynonym "mitochondrial complex III deficiency caused by mutation in UQCRB" ECTO:0001082 oboInOwl:hasExactSynonym "Alcohol Consumption exposure" +MONDO:0011678 oboInOwl:hasExactSynonym "chromosome 11p15-p14 deletion syndrome" MONDO:0011678 oboInOwl:hasExactSynonym "homozygous 11P15-p14 deletion syndrome" MONDO:0003301 oboInOwl:hasExactSynonym "dartos muscle leiomyoma" MONDO:0003301 oboInOwl:hasExactSynonym "leiomyoma of dartos muscle" @@ -165769,6 +167896,7 @@ MONDO:0017833 oboInOwl:hasExactSynonym "neoplastic hypereosinophilic syndrome" MONDO:0017833 oboInOwl:hasExactSynonym "HES-N" MONDO:0017833 oboInOwl:hasExactSynonym "HES-M" MONDO:0013859 oboInOwl:hasExactSynonym "CTRCT38" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013859 oboInOwl:hasExactSynonym "cataract 38, autosomal recessive" MONDO:0013859 oboInOwl:hasExactSynonym "early-onset non-syndromic cataract caused by mutation in AGK" MONDO:0013859 oboInOwl:hasExactSynonym "cataract type 38" MONDO:0013859 oboInOwl:hasExactSynonym "autosomal recessive congenital cataract 5" @@ -165800,6 +167928,7 @@ MONDO:0010647 oboInOwl:hasExactSynonym "spermatogenic failure, X-linked, 2" MONDO:0010647 oboInOwl:hasExactSynonym "spermatogenic failure, X-linked, type 2" MONDO:0010647 oboInOwl:hasExactSynonym "TEX11 azoospermia" MONDO:0010647 oboInOwl:hasExactSynonym "azoospermia caused by mutation in TEX11" +MONDO:0010647 oboInOwl:hasExactSynonym "spermatogenic failure, X-linked, 2, X-linked recessive" MONDO:0017449 oboInOwl:hasExactSynonym "split hand (disease)" MONDO:0017449 oboInOwl:hasExactSynonym "split hand" MONDO:0017449 oboInOwl:hasExactSynonym "ectrodactyly of hand" @@ -165810,6 +167939,7 @@ GO:0035809 oboInOwl:hasExactSynonym "regulation of urinary volume" MONDO:0013009 oboInOwl:hasExactSynonym "Megarbane-Jalkh syndrome" MONDO:0009884 oboInOwl:hasExactSynonym "platelet prostacyclin receptor defect" MONDO:0008630 oboInOwl:hasExactSynonym "urinary bladder, atony of" +MONDO:0008630 oboInOwl:hasExactSynonym "bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT" MONDO:0008630 oboInOwl:hasExactSynonym "atony of urinary bladder" MONDO:0002745 oboInOwl:hasExactSynonym "fallopian tube mucinous neoplasm" MONDO:0002745 oboInOwl:hasExactSynonym "fallopian tube mucinous tumor" @@ -165822,11 +167952,13 @@ CHEBI:32785 oboInOwl:hasExactSynonym "tyrosinate(2-)" CHEBI:32785 oboInOwl:hasExactSynonym "tyrosinate" HP:0003110 oboInOwl:hasExactSynonym "Pee issues" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0003110 oboInOwl:hasExactSynonym "Urine issues" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0011227 oboInOwl:hasExactSynonym "short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities" MONDO:0011227 oboInOwl:hasExactSynonym "SAMS syndrome" MONDO:0100428 oboInOwl:hasExactSynonym "Fazio-Londe disease" MONDO:0100205 oboInOwl:hasExactSynonym "infection caused by human parainfluenza virus 4" MONDO:0100205 oboInOwl:hasExactSynonym "human rubulavirus 4 infectious disease" MONDO:0100205 oboInOwl:hasExactSynonym "infection due to human parainfluenza virus 4" +MONDO:0013408 oboInOwl:hasExactSynonym "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction" MONDO:0013408 oboInOwl:hasExactSynonym "FADD-related immunodeficiency" MONDO:0015288 oboInOwl:hasExactSynonym "Simplexvirus caused keratitis" MONDO:0015288 oboInOwl:hasExactSynonym "dendritic keratitis" @@ -165863,9 +167995,11 @@ MONDO:0020128 oboInOwl:hasExactSynonym "disease or disorder of motor neuron" MONDO:0020128 oboInOwl:hasExactSynonym "motor neuron disease" MONDO:0020128 oboInOwl:hasExactSynonym "disorder of motor neuron" MONDO:0020128 oboInOwl:hasExactSynonym "disease of motor neuron" +MONDO:0010239 oboInOwl:hasExactSynonym "subcortical laminal heterotopia, X-linked" MONDO:0010239 oboInOwl:hasExactSynonym "lissencephaly type 1 due to doublecortin gene mutation" MONDO:0010239 oboInOwl:hasExactSynonym "X-linked lissencephaly type 1" MONDO:0010239 oboInOwl:hasExactSynonym "lissencephaly, X-linked, type 1" +MONDO:0010239 oboInOwl:hasExactSynonym "lissencephaly, X-linked" MONDO:0018092 oboInOwl:hasExactSynonym "Vogt-Koyanagi syndrome" MONDO:0018092 oboInOwl:hasExactSynonym "Harada's disease" MONDO:0018092 oboInOwl:hasExactSynonym "Uveomenigitic syndrome" @@ -165882,6 +168016,7 @@ ENVO:01001136 oboInOwl:hasExactSynonym "aquaplanet" MONDO:0017906 oboInOwl:hasExactSynonym "amyloidosis cutis dyschromica" MONDO:0004087 oboInOwl:hasExactSynonym "basaloid large cell lung carcinoma" MONDO:0033006 oboInOwl:hasExactSynonym "Galloway-Mowat syndrome 2, X-linked" +MONDO:0033006 oboInOwl:hasExactSynonym "Galloway-Mowat syndrome 2, X-linked, X-linked recessive" MONDO:0006287 oboInOwl:hasExactSynonym "OSTEOCLASTOMA, malignant" MONDO:0006287 oboInOwl:hasExactSynonym "malignancy in giant cell tumor of bone" MONDO:0006287 oboInOwl:hasExactSynonym "giant cell tumor of bone, malignant (morphologic abnormality)" @@ -166017,6 +168152,8 @@ MONDO:0008608 oboInOwl:hasExactSynonym "trisomy 21" MONDO:0008608 oboInOwl:hasExactSynonym "trisomy 21 syndrome" MONDO:0008608 oboInOwl:hasExactSynonym "Down's syndrome" MONDO:0008608 oboInOwl:hasExactSynonym "Down's syndrome - trisomy 21" +MONDO:0008608 oboInOwl:hasExactSynonym "Down syndrome, Isolated cases" +MONDO:0008608 oboInOwl:hasExactSynonym "leukemia, megakaryoblastic, with or without Down syndrome, somatic" MONDO:0008608 oboInOwl:hasExactSynonym "Down syndrome" MONDO:0004711 oboInOwl:hasExactSynonym "obsolete amyloidosis (disease)" MONDO:0016908 oboInOwl:hasExactSynonym "partial deletion of the long arm of chromosome 9" @@ -166047,6 +168184,7 @@ MONDO:0009212 oboInOwl:hasExactSynonym "Stuart-Prower factor deficiency" MONDO:0009212 oboInOwl:hasExactSynonym "disease, Stuart-Prower" MONDO:0009212 oboInOwl:hasExactSynonym "congenital factor X deficiency" MONDO:0009212 oboInOwl:hasExactSynonym "hereditary Factor X deficiency" +MONDO:0010489 oboInOwl:hasExactSynonym "intellectual developmental disorder, X-linked 101, X-linked recessive" MONDO:0010489 oboInOwl:hasExactSynonym "MID2 non-syndromic X-linked intellectual disability" MONDO:0010489 oboInOwl:hasExactSynonym "mental retardation, X-linked type 101" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0010489 oboInOwl:hasExactSynonym "intellectual disability, X-linked type 101" @@ -166220,6 +168358,7 @@ MONDO:0010583 oboInOwl:hasExactSynonym "Dyggve-Melchior-Clausen syndrome, X-link MONDO:0012612 oboInOwl:hasExactSynonym "mental retardation, autosomal recessive type 12" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0012612 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive type 12" MONDO:0012612 oboInOwl:hasExactSynonym "intellectual disability, autosomal recessive 12" +MONDO:0012612 oboInOwl:hasExactSynonym "intellectual developmental disorder, autosomal recessive 12" GO:0001933 oboInOwl:hasExactSynonym "down-regulation of protein amino acid phosphorylation" GO:0001933 oboInOwl:hasExactSynonym "negative regulation of protein amino acid phosphorylation" GO:0001933 oboInOwl:hasExactSynonym "down regulation of protein amino acid phosphorylation" @@ -166249,6 +168388,7 @@ MONDO:0008474 oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia tarda, auto MONDO:0008474 oboInOwl:hasExactSynonym "autosomal dominant spondyloepiphyseal dysplasia tarda" MONDO:0014103 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 18 with or without anosmia" MONDO:0014103 oboInOwl:hasExactSynonym "IL17RD hypogonadotropic hypogonadism" +MONDO:0014103 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism 18 with or without anosmia, Autosomal recessive, Autosomal dominant, Digenic dominant" MONDO:0014103 oboInOwl:hasExactSynonym "hypogonadotropic hypogonadism caused by mutation in IL17RD" MONDO:0013040 oboInOwl:hasExactSynonym "hemolytic uremic syndrome, atypical, susceptibility to, type 2" MONDO:0013040 oboInOwl:hasExactSynonym "atypical HUS with MCP/CD46 anomaly" @@ -166264,6 +168404,7 @@ MONDO:0010654 oboInOwl:hasExactSynonym "Partington syndrome" MONDO:0010654 oboInOwl:hasExactSynonym "Partington-Mulley syndrome" MONDO:0010654 oboInOwl:hasExactSynonym "X-linked Russell-Silver syndrome" MONDO:0010654 oboInOwl:hasExactSynonym "X-linked intellectual disability-dystonia-dysarthria syndrome" +MONDO:0010654 oboInOwl:hasExactSynonym "Partington syndrome, X-linked recessive" MONDO:0011600 oboInOwl:hasExactSynonym "CMS Ia1" MONDO:0011600 oboInOwl:hasExactSynonym "congenital myasthenic syndrome 4A slow-channel" MONDO:0011600 oboInOwl:hasExactSynonym "congenital myasthenic syndrome type 4A" @@ -166280,6 +168421,7 @@ MONDO:0011165 oboInOwl:hasExactSynonym "glomerulopathy with fibronectin deposits MONDO:0011165 oboInOwl:hasExactSynonym "FN1 fibronectin glomerulopathy" MONDO:0011165 oboInOwl:hasExactSynonym "fibronectin glomerulopathy caused by mutation in FN1" CHEBI:26020 oboInOwl:hasExactSynonym "phosphates" +MONDO:0012111 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 8" MONDO:0012111 oboInOwl:hasExactSynonym "cardiomyopathy hypertrophic mid-left ventricular chamber type 1" MONDO:0012111 oboInOwl:hasExactSynonym "MYL3 hypertrophic cardiomyopathy" MONDO:0012111 oboInOwl:hasExactSynonym "cardiomyopathy, familial hypertrophic, type 8" @@ -166294,8 +168436,10 @@ MONDO:0003358 oboInOwl:hasExactSynonym "anal leiomyosarcoma" MONDO:0007949 oboInOwl:hasExactSynonym "Marshall syndrome" MONDO:0008318 oboInOwl:hasExactSynonym "Wiedemann's syndrome" MONDO:0008318 oboInOwl:hasExactSynonym "partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome" +MONDO:0008318 oboInOwl:hasExactSynonym "proteus syndrome, somatic" MONDO:0008318 oboInOwl:hasExactSynonym "Proteus syndrome" MONDO:0009876 oboInOwl:hasExactSynonym "congenital isolated GH deficiency type IA" +MONDO:0009876 oboInOwl:hasExactSynonym "growth hormone deficiency, isolated, type IA" MONDO:0009876 oboInOwl:hasExactSynonym "isolated growth hormone deficiency type IA" MONDO:0009876 oboInOwl:hasExactSynonym "congenital isolated growth hormone deficiency type IA" MONDO:0009876 oboInOwl:hasExactSynonym "IGHD IA" @@ -166334,6 +168478,7 @@ MONDO:0015719 oboInOwl:hasExactSynonym "severe hemophilia type A" MONDO:0015719 oboInOwl:hasExactSynonym "severe factor VIII deficiency" MONDO:0011386 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility caused by mutation in VEGFA" MONDO:0011386 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility to, type 1" +MONDO:0011386 oboInOwl:hasExactSynonym "microvascular complications of diabetes 1" MONDO:0011386 oboInOwl:hasExactSynonym "microvascular complications of diabetes, susceptibility to, 1" MONDO:0011386 oboInOwl:hasExactSynonym "VEGFA microvascular complications of diabetes, susceptibility" MONDO:0015210 oboInOwl:hasExactSynonym "syndromic gastroduodenal malformation" @@ -166366,12 +168511,14 @@ MONDO:0006734 oboInOwl:hasExactSynonym "benign neoplasm of duodenum" MONDO:0044785 oboInOwl:hasExactSynonym "desmoplastic cutaneous (skin) melanoma" MONDO:0044785 oboInOwl:hasExactSynonym "desmoplastic melanoma" MONDO:0013773 oboInOwl:hasExactSynonym "porencephaly caused by mutation in COL4A2" +MONDO:0013773 oboInOwl:hasExactSynonym "brain small vessel disease 2" MONDO:0013773 oboInOwl:hasExactSynonym "porencephaly type 2" MONDO:0013773 oboInOwl:hasExactSynonym "COL4A2 porencephaly" MONDO:0013773 oboInOwl:hasExactSynonym "porencephaly 2" MONDO:0033373 oboInOwl:hasExactSynonym "EIEE64" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033373 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 64" MONDO:0033373 oboInOwl:hasExactSynonym "DEE64" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0033373 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 64" MONDO:0015193 oboInOwl:hasExactSynonym "generalized fetal edema" MONDO:0015193 oboInOwl:hasExactSynonym "hydrops fetalis (disease)" MONDO:0015193 oboInOwl:hasExactSynonym "hydrops fetalis" @@ -166381,6 +168528,9 @@ MONDO:0015193 oboInOwl:hasExactSynonym "HF" http://purl.obolibrary.org/obo/mondo MONDO:0100284 oboInOwl:hasExactSynonym "X-linked intellectual disability" MONDO:0019309 oboInOwl:hasExactSynonym "JEB-lo" MONDO:0019309 oboInOwl:hasExactSynonym "EB progressive" +MONDO:0020745 oboInOwl:hasExactSynonym "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome" +MONDO:0020745 oboInOwl:hasExactSynonym "VACRDS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0020745 oboInOwl:hasExactSynonym "autosomal dominant cardiac arrhythmia (Kuhn)" http://purl.obolibrary.org/obo/mondo#DEPRECATED CHEBI:145795 oboInOwl:hasExactSynonym "12beta,14-dihydroxy-17beta-(5-oxo-2,5-dihydrofuran-2-id-3-yl)-5beta,14beta-androstan-3beta-yl 2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranoside" MONDO:0020322 oboInOwl:hasExactSynonym "B- and T-cell mixed leukemia" GO:0019752 oboInOwl:hasExactSynonym "carboxylic acid metabolism" @@ -166398,6 +168548,7 @@ MONDO:0014979 oboInOwl:hasExactSynonym "NEIMY" http://purl.obolibrary.org/obo/mo MONDO:0003289 oboInOwl:hasExactSynonym "deep leiomyoma" MONDO:0019971 oboInOwl:hasExactSynonym "clear cell sarcoma of the tendons and aponeuroses" MONDO:0014355 oboInOwl:hasExactSynonym "cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis" +MONDO:0014355 oboInOwl:hasExactSynonym "dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis" MONDO:0010843 oboInOwl:hasExactSynonym "dyslexia, susceptibility to, 2" MONDO:0010843 oboInOwl:hasExactSynonym "DYX2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012081 oboInOwl:hasExactSynonym "15q11-q13 duplication syndrome" @@ -166405,6 +168556,7 @@ MONDO:0012081 oboInOwl:hasExactSynonym "15q11q13 duplication syndrome" MONDO:0012081 oboInOwl:hasExactSynonym "15q11-q13 microduplication syndrome" MONDO:0012081 oboInOwl:hasExactSynonym "trisomy 15q11-q13" MONDO:0012081 oboInOwl:hasExactSynonym "trisomy 15q11q13" +MONDO:0012081 oboInOwl:hasExactSynonym "autism susceptibility 4" MONDO:0012081 oboInOwl:hasExactSynonym "dup(15)(q11q13)" MONDO:0002074 oboInOwl:hasExactSynonym "arthropathy in Behcet's syndrome involving lower leg" MONDO:0002074 oboInOwl:hasExactSynonym "arthropathy in Behcet's syndrome involving pelvic region and thigh" @@ -166418,6 +168570,7 @@ MONDO:0002074 oboInOwl:hasExactSynonym "arthropathy in Behcet's syndrome involvi MONDO:0002074 oboInOwl:hasExactSynonym "arthropathy in Behcet's syndrome involving multiple sites" MONDO:0002074 oboInOwl:hasExactSynonym "Behcet's syndrome arthropathy" MONDO:0009308 oboInOwl:hasExactSynonym "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative" +MONDO:0009308 oboInOwl:hasExactSynonym "chronic granulomatous disease 4, autosomal recessive" MONDO:0007221 oboInOwl:hasExactSynonym "brachydactyly type C" MONDO:0006665 oboInOwl:hasExactSynonym "atrophic Gastritides" MONDO:0006665 oboInOwl:hasExactSynonym "Gastritides, atrophic" @@ -166427,10 +168580,10 @@ GO:0032774 oboInOwl:hasExactSynonym "RNA anabolism" GO:0032774 oboInOwl:hasExactSynonym "RNA synthesis" GO:0032774 oboInOwl:hasExactSynonym "RNA biosynthesis" GO:0032774 oboInOwl:hasExactSynonym "RNA formation" -CHEBI:33637 oboInOwl:hasExactSynonym "ortho-fused polycyclic compounds" MONDO:0030007 oboInOwl:hasExactSynonym "combined oxidative phosphorylation deficiency 41" MONDO:0030007 oboInOwl:hasExactSynonym "COXPD41" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030007 oboInOwl:hasExactSynonym "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41" +CHEBI:33637 oboInOwl:hasExactSynonym "ortho-fused polycyclic compounds" MONDO:0020628 oboInOwl:hasExactSynonym "microcephaly, growth restriction, and increased sister chromatid exchange 2" MONDO:0000607 oboInOwl:hasExactSynonym "PCTCL" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0000607 oboInOwl:hasExactSynonym "primary cutaneous T-cell non-Hodgkin lymphoma" @@ -166499,11 +168652,11 @@ MONDO:0015466 oboInOwl:hasExactSynonym "Currarino disease" MONDO:0015466 oboInOwl:hasExactSynonym "Currarino idiopathic osteoarthropathy" MONDO:0016653 oboInOwl:hasExactSynonym "monosomy 2q33.1" MONDO:0016653 oboInOwl:hasExactSynonym "Del(2)(q33.1)" -MONDO:0020492 oboInOwl:hasExactSynonym "unilateral megalencephaly" MONDO:0007728 oboInOwl:hasExactSynonym "acne inversa, familial, type 1" MONDO:0007728 oboInOwl:hasExactSynonym "NCSTN familial acne inversa" MONDO:0007728 oboInOwl:hasExactSynonym "familial acne inversa caused by mutation in NCSTN" MONDO:0007728 oboInOwl:hasExactSynonym "acne inversa, familial, 1" +MONDO:0020492 oboInOwl:hasExactSynonym "unilateral megalencephaly" MONDO:0014819 oboInOwl:hasExactSynonym "Robinow syndrome, autosomal dominant type 3" MONDO:0014819 oboInOwl:hasExactSynonym "DRS3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014819 oboInOwl:hasExactSynonym "autosomal dominant Robinow syndrome type 3" @@ -166535,6 +168688,7 @@ MONDO:0017398 oboInOwl:hasExactSynonym "craniofacial-ulnar-renal syndrome" MONDO:0017398 oboInOwl:hasExactSynonym "oculopalatoskeletal syndrome" HP:0001743 oboInOwl:hasExactSynonym "Abnormality of the spleen" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0012827 oboInOwl:hasExactSynonym "IS5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012827 oboInOwl:hasExactSynonym "scoliosis, idiopathic, susceptibility to, 5" MONDO:0012827 oboInOwl:hasExactSynonym "scoliosis, isolated, susceptibility to, 5" MONDO:0021177 oboInOwl:hasExactSynonym "autoimmune hepatitis type 3" MONDO:0004555 oboInOwl:hasExactSynonym "angiomyolipoma of the kidney" @@ -166550,6 +168704,7 @@ MONDO:0011423 oboInOwl:hasExactSynonym "autosomal recessive limb-girdle muscular MONDO:0011423 oboInOwl:hasExactSynonym "SGCB autosomal recessive limb-girdle muscular dystrophy" MONDO:0011423 oboInOwl:hasExactSynonym "LGMD2E" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011423 oboInOwl:hasExactSynonym "limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency" +MONDO:0011423 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, autosomal recessive 4" MONDO:0011423 oboInOwl:hasExactSynonym "muscular dystrophy, limb-girdle, type 2E" GO:0005381 oboInOwl:hasExactSynonym "iron transporter activity" GO:0005381 oboInOwl:hasExactSynonym "iron channel activity" @@ -166594,9 +168749,6 @@ MONDO:0003913 oboInOwl:hasExactSynonym "optic choroid mixed cell uveal melanoma" GO:1900402 oboInOwl:hasExactSynonym "regulation of carbohydrate metabolism by regulation of transcription from RNA polymerase II promoter" NCBITaxon:1980517 oboInOwl:hasExactSynonym "Nairovirus" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name NCBITaxon:1980517 oboInOwl:hasExactSynonym "Nairoviruses" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name -MONDO:0044646 oboInOwl:hasExactSynonym "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT" -MONDO:0044646 oboInOwl:hasExactSynonym "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" -MONDO:0044646 oboInOwl:hasExactSynonym "PEBAT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012996 oboInOwl:hasExactSynonym "L-arginine:glycine amidinotransferase deficiency" MONDO:0012996 oboInOwl:hasExactSynonym "CCDS3" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012996 oboInOwl:hasExactSynonym "cerebral creatine deficiency syndrome 3" @@ -166607,6 +168759,9 @@ MONDO:0012996 oboInOwl:hasExactSynonym "GATM deficiency" MONDO:0012996 oboInOwl:hasExactSynonym "disorder of glycine amidinotransferase activity" MONDO:0012996 oboInOwl:hasExactSynonym "creatine deficiency syndrome due to AGAT deficiency" MONDO:0012996 oboInOwl:hasExactSynonym "AGAT deficiency" +MONDO:0044646 oboInOwl:hasExactSynonym "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT" +MONDO:0044646 oboInOwl:hasExactSynonym "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" +MONDO:0044646 oboInOwl:hasExactSynonym "PEBAT" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0016269 oboInOwl:hasExactSynonym "poorly differentiated neuroendocrine carcinoma of the endometrium" MONDO:0016269 oboInOwl:hasExactSynonym "poorly differentiated neuroendocrine carcinoma of the corpus uteri" MONDO:0016269 oboInOwl:hasExactSynonym "high-grade neuroendocrine carcinoma of the uterine corpus" @@ -166625,6 +168780,7 @@ GO:0006704 oboInOwl:hasExactSynonym "glucocorticoid biosynthesis" GO:0006704 oboInOwl:hasExactSynonym "glucocorticoid anabolism" MONDO:8000019 oboInOwl:hasExactSynonym "vertigo, benign recurrent, 1" MONDO:0012176 oboInOwl:hasExactSynonym "supernumerary der(22) syndrome" +MONDO:0012176 oboInOwl:hasExactSynonym "Ehlers-Danlos syndrome, classic-like, 1" MONDO:0012176 oboInOwl:hasExactSynonym "Emanuel syndrome" MONDO:0012176 oboInOwl:hasExactSynonym "Der(22)t(11;22) syndrome" MONDO:0019645 oboInOwl:hasExactSynonym "bilateral renal dysplasia" @@ -166635,6 +168791,7 @@ MONDO:0005042 oboInOwl:hasExactSynonym "head disease" MONDO:0005042 oboInOwl:hasExactSynonym "disease or disorder of head" MONDO:0005042 oboInOwl:hasExactSynonym "disease of head" MONDO:0005042 oboInOwl:hasExactSynonym "disorder of head" +MONDO:0012419 oboInOwl:hasExactSynonym "macular degeneration, age-related, neovascular type" MONDO:0012419 oboInOwl:hasExactSynonym "macular Degeneration, age-related, type 7" MONDO:0012419 oboInOwl:hasExactSynonym "ARMD7" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012419 oboInOwl:hasExactSynonym "age-related macular degeneration caused by mutation in HTRA1" @@ -166702,6 +168859,7 @@ CL:0000084 oboInOwl:hasExactSynonym "T-lymphocyte" CL:0000084 oboInOwl:hasExactSynonym "T lymphocyte" CL:0000084 oboInOwl:hasExactSynonym "T-cell" MONDO:0016165 oboInOwl:hasExactSynonym "genetic hypoparathyroidism" +MONDO:0010648 oboInOwl:hasExactSynonym "major affective disorder 2, X-linked dominant" MONDO:0010648 oboInOwl:hasExactSynonym "MAFD2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0010648 oboInOwl:hasExactSynonym "major affective disorder 2" MONDO:0017905 oboInOwl:hasExactSynonym "X-linked MSMD" @@ -166732,17 +168890,17 @@ GO:0045061 oboInOwl:hasExactSynonym "thymic T-cell selection" GO:0045061 oboInOwl:hasExactSynonym "thymic T lymphocyte selection" HP:0000834 oboInOwl:hasExactSynonym "Adrenal abnormalities" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0008444 oboInOwl:hasExactSynonym "spastic paraplegia, optic atrophy, and dementia" -MONDO:0019162 oboInOwl:hasExactSynonym "hypertensive hyperkalemia" -MONDO:0019162 oboInOwl:hasExactSynonym "chloride shunt syndrome" -MONDO:0019162 oboInOwl:hasExactSynonym "PHAII" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0019162 oboInOwl:hasExactSynonym "Spitzer-Weinstein syndrome" -MONDO:0019162 oboInOwl:hasExactSynonym "pseudohypoaldosteronism, type 2" -MONDO:0019162 oboInOwl:hasExactSynonym "mineralocorticoid resistant hyperkalemia" MONDO:0019162 oboInOwl:hasExactSynonym "Gordon syndrome" -MONDO:0019162 oboInOwl:hasExactSynonym "familial hyperkalemic hypertension" MONDO:0019162 oboInOwl:hasExactSynonym "PHA2" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0019162 oboInOwl:hasExactSynonym "Spitzer-Weinstein syndrome" MONDO:0019162 oboInOwl:hasExactSynonym "Gordon hyperkalemia-hypertension syndrome" +MONDO:0019162 oboInOwl:hasExactSynonym "familial hyperkalemic hypertension" +MONDO:0019162 oboInOwl:hasExactSynonym "mineralocorticoid resistant hyperkalemia" MONDO:0019162 oboInOwl:hasExactSynonym "pseudohypoaldosteronism, type II" +MONDO:0019162 oboInOwl:hasExactSynonym "chloride shunt syndrome" +MONDO:0019162 oboInOwl:hasExactSynonym "PHAII" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0019162 oboInOwl:hasExactSynonym "pseudohypoaldosteronism, type 2" +MONDO:0019162 oboInOwl:hasExactSynonym "hypertensive hyperkalemia" MONDO:0019162 oboInOwl:hasExactSynonym "hyperkalemia-hypertension syndrome, Gordon type" MONDO:0043207 oboInOwl:hasExactSynonym "early urethral obstruction sequence" MONDO:0012283 oboInOwl:hasExactSynonym "cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss" @@ -166774,6 +168932,7 @@ NCBITaxon:4890 oboInOwl:hasExactSynonym "sac fungi" http://purl.obolibrary.org/o MONDO:0013409 oboInOwl:hasExactSynonym "age related macular degeneration type 5" MONDO:0013409 oboInOwl:hasExactSynonym "ERCC6 age-related macular degeneration" MONDO:0013409 oboInOwl:hasExactSynonym "ARMD5" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0013409 oboInOwl:hasExactSynonym "macular degeneration, age-related, susceptibility to, 5" MONDO:0013409 oboInOwl:hasExactSynonym "macular Degeneration, age-related, type 5" MONDO:0013409 oboInOwl:hasExactSynonym "age-related macular degeneration caused by mutation in ERCC6" MONDO:0003915 oboInOwl:hasExactSynonym "thymoma type B2" @@ -166825,6 +168984,7 @@ MONDO:0005476 oboInOwl:hasExactSynonym "disease or disorder of atrioventricular MONDO:0005476 oboInOwl:hasExactSynonym "disease of atrioventricular node" MONDO:0005476 oboInOwl:hasExactSynonym "atrioventricular node disease" MONDO:0005476 oboInOwl:hasExactSynonym "atrioventricular node disease or disorder" +MONDO:0008852 oboInOwl:hasExactSynonym "central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease" MONDO:0008852 oboInOwl:hasExactSynonym "ondine curse" MONDO:0008852 oboInOwl:hasExactSynonym "congenital central alveolar hypoventilation syndrome" MONDO:0008852 oboInOwl:hasExactSynonym "congenital central hypoventilation syndrome" @@ -166851,15 +169011,15 @@ MONDO:0013743 oboInOwl:hasExactSynonym "SLEB16" http://purl.obolibrary.org/obo/m MONDO:0020129 oboInOwl:hasExactSynonym "acquired motor neuron disease" MONDO:0020129 oboInOwl:hasExactSynonym "acquired anterior horn cell disease" MONDO:0017038 oboInOwl:hasExactSynonym "secondary ILD in childhood and adulthood associated with a systemic vasculitis" -MONDO:0008223 oboInOwl:hasExactSynonym "hypokalemic familial periodic paralysis" +MONDO:0008223 oboInOwl:hasExactSynonym "familial periodic paralysis (& [hypokalaemic])" MONDO:0008223 oboInOwl:hasExactSynonym "familial hypokalemic periodic paralysis" -MONDO:0008223 oboInOwl:hasExactSynonym "HOKPP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008223 oboInOwl:hasExactSynonym "Westphall disease" +MONDO:0008223 oboInOwl:hasExactSynonym "periodic hypokalemic paralysis" +MONDO:0008223 oboInOwl:hasExactSynonym "hypokalemic familial periodic paralysis" MONDO:0008223 oboInOwl:hasExactSynonym "hypokalemic periodic paralysis" -MONDO:0008223 oboInOwl:hasExactSynonym "familial periodic paralysis (& [hypokalaemic])" MONDO:0008223 oboInOwl:hasExactSynonym "HypoPP" MONDO:0008223 oboInOwl:hasExactSynonym "HKPP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0008223 oboInOwl:hasExactSynonym "periodic hypokalemic paralysis" +MONDO:0008223 oboInOwl:hasExactSynonym "HOKPP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0008223 oboInOwl:hasExactSynonym "Westphall disease" MONDO:0015726 oboInOwl:hasExactSynonym "distal trisomy type 14q" MONDO:0015726 oboInOwl:hasExactSynonym "telomeric duplication 14q" MONDO:0015726 oboInOwl:hasExactSynonym "trisomy 14qter" @@ -166878,16 +169038,16 @@ MONDO:0002681 oboInOwl:hasExactSynonym "malignant neoplasm of the choroid plexus MONDO:0002681 oboInOwl:hasExactSynonym "cancer of choroid plexus" MONDO:0002681 oboInOwl:hasExactSynonym "malignant tumor of choroid plexus" MONDO:0002681 oboInOwl:hasExactSynonym "malignant neoplasm of choroid plexus" -MONDO:0002681 oboInOwl:hasExactSynonym "malignant choroid plexus tumor" MONDO:0002681 oboInOwl:hasExactSynonym "malignant choroid plexus neoplasm" +MONDO:0002681 oboInOwl:hasExactSynonym "malignant choroid plexus tumor" MONDO:0002681 oboInOwl:hasExactSynonym "malignant choroid plexus tumors" MONDO:0002681 oboInOwl:hasExactSynonym "choroid plexus cancer" MONDO:0002681 oboInOwl:hasExactSynonym "malignant choroid plexus neoplasms" MONDO:0021121 oboInOwl:hasExactSynonym "angioendothelioma" MONDO:0021121 oboInOwl:hasExactSynonym "hemangioendothelioma" +CHEBI:35604 oboInOwl:hasExactSynonym "carbon oxoanion" MONDO:0013930 oboInOwl:hasExactSynonym "peroxisome biogenesis disorder 4A (Zellweger)" MONDO:0013930 oboInOwl:hasExactSynonym "classic peroxisome biogenesis disorder" -CHEBI:35604 oboInOwl:hasExactSynonym "carbon oxoanion" MONDO:0044141 oboInOwl:hasExactSynonym "panic disorder without agoraphobia" ENVO:01001137 oboInOwl:hasExactSynonym "cryoplanet" MONDO:0017907 oboInOwl:hasExactSynonym "conjunctiva lymphoma" @@ -167088,8 +169248,13 @@ MONDO:0003686 oboInOwl:hasExactSynonym "apocrine neoplasm of the skin" MONDO:0003515 oboInOwl:hasExactSynonym "fallopian tube teratoma" MONDO:0011094 oboInOwl:hasExactSynonym "dilated cardiomyopathy type 1C" MONDO:0011094 oboInOwl:hasExactSynonym "dilated cardiomyopathy 1C with or without left ventricular noncompaction" +MONDO:0011094 oboInOwl:hasExactSynonym "cardiomyopathy, dilated, 1C, with or without LVNC" MONDO:0011094 oboInOwl:hasExactSynonym "CMDC1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011094 oboInOwl:hasExactSynonym "cardiomyopathy, hypertrophic, 24" +MONDO:0011361 oboInOwl:hasExactSynonym "prostate cancer/brain cancer susceptibility, somatic" MONDO:0011361 oboInOwl:hasExactSynonym "prostate cancer/brain cancer susceptibility" +MONDO:0011751 oboInOwl:hasExactSynonym "pulmonary disease, chronic obstructive, susceptibility to" +MONDO:0011751 oboInOwl:hasExactSynonym "COPD, rate of decline of lung function in" MONDO:0012834 oboInOwl:hasExactSynonym "systemic lupus erythematosus, susceptibility to, 10" MONDO:0012834 oboInOwl:hasExactSynonym "systemic lupus erythematosus, susceptibility to, type 10" MONDO:0012834 oboInOwl:hasExactSynonym "IRF5 systemic lupus erythematosus (disease)" @@ -167104,9 +169269,9 @@ MONDO:0006570 oboInOwl:hasExactSynonym "lichen" MONDO:0000346 oboInOwl:hasExactSynonym "Balkan hemorrhagic fever" MONDO:0001557 oboInOwl:hasExactSynonym "shoe boil" MONDO:0001557 oboInOwl:hasExactSynonym "bursitis of elbow region" -MONDO:0001557 oboInOwl:hasExactSynonym "miner's elbow" MONDO:0001557 oboInOwl:hasExactSynonym "elbow bursitis (& olecranon)" MONDO:0001557 oboInOwl:hasExactSynonym "bursitis of elbow" +MONDO:0001557 oboInOwl:hasExactSynonym "miner's elbow" MONDO:0001557 oboInOwl:hasExactSynonym "elbow bursitis" MONDO:0001557 oboInOwl:hasExactSynonym "Miners' elbow" MONDO:0001557 oboInOwl:hasExactSynonym "olecranon bursitis" @@ -167141,6 +169306,7 @@ MONDO:0002998 oboInOwl:hasExactSynonym "meningioma (disease) of basicranium" MONDO:0014512 oboInOwl:hasExactSynonym "intellectual disability, autosomal dominant type 31" MONDO:0014512 oboInOwl:hasExactSynonym "MRD31" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0014512 oboInOwl:hasExactSynonym "mental retardation, autosomal dominant type 31" http://purl.obolibrary.org/obo/mondo#DEPRECATED +MONDO:0014512 oboInOwl:hasExactSynonym "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties" MONDO:0014512 oboInOwl:hasExactSynonym "autosomal dominant mental retardation 31" http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:0014512 oboInOwl:hasExactSynonym "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation" MONDO:0014512 oboInOwl:hasExactSynonym "autosomal dominant intellectual disability 31" @@ -167170,6 +169336,7 @@ MONDO:0003107 oboInOwl:hasExactSynonym "brain neoplasm, infratentorial" MONDO:0003107 oboInOwl:hasExactSynonym "infratentorial neoplasms, malignant" MONDO:0009183 oboInOwl:hasExactSynonym "junctional epidermolysis bullosa-pyloric atresia syndrome" MONDO:0009183 oboInOwl:hasExactSynonym "JEB-PA" +MONDO:0009183 oboInOwl:hasExactSynonym "epidermolysis bullosa, junctional, with pyloric stenosis" MONDO:0009183 oboInOwl:hasExactSynonym "junctional epidermolysis bullosa with pyloric atresia" MONDO:0009183 oboInOwl:hasExactSynonym "Carmi syndrome" MONDO:0009183 oboInOwl:hasExactSynonym "epidermolysis bullosa junctionalis with pyloric atresia" @@ -167207,6 +169374,7 @@ MONDO:0001149 oboInOwl:hasExactSynonym "microcephalus" MONDO:0004682 oboInOwl:hasExactSynonym "neoplasm of retromolar area, malignant" MONDO:0004682 oboInOwl:hasExactSynonym "malignant neoplasm of retromolar area" MONDO:0004682 oboInOwl:hasExactSynonym "malignant tumor of retromolar area" +MONDO:0024546 oboInOwl:hasExactSynonym "hypertrophic osteoarthropathy, primary, autosomal recessive 1" MONDO:0024546 oboInOwl:hasExactSynonym "primary hypertrophic osteoarthropathy caused by mutation in HPGD" MONDO:0024546 oboInOwl:hasExactSynonym "hypertrophic osteoarthropathy, primary, autosomal recessive, 1" MONDO:0024546 oboInOwl:hasExactSynonym "HPGD primary hypertrophic osteoarthropathy" @@ -167239,7 +169407,6 @@ MONDO:0018282 oboInOwl:hasExactSynonym "dystroglycanopathy" MONDO:0018282 oboInOwl:hasExactSynonym "Alpha-dystroglycanopathy" MONDO:0005099 oboInOwl:hasExactSynonym "subarachnoid hemorrhage" MONDO:0005099 oboInOwl:hasExactSynonym "subarachnoid hemorrhage (disease)" -MONDO:0020557 oboInOwl:hasExactSynonym "type III pleuropulmonary blastoma" MONDO:0006173 oboInOwl:hasExactSynonym "squamous cell carcinoma of conjunctiva" MONDO:0006173 oboInOwl:hasExactSynonym "conjunctiva squamous cell carcinoma" MONDO:0006173 oboInOwl:hasExactSynonym "epidermoid carcinoma of conjunctiva" @@ -167251,6 +169418,7 @@ MONDO:0006173 oboInOwl:hasExactSynonym "conjunctiva epidermoid carcinoma" MONDO:0006173 oboInOwl:hasExactSynonym "conjunctival squamous cell cancer" MONDO:0006173 oboInOwl:hasExactSynonym "ocular surface squamous neoplasia" MONDO:0006173 oboInOwl:hasExactSynonym "epidermoid carcinoma of the conjunctiva" +MONDO:0020557 oboInOwl:hasExactSynonym "type III pleuropulmonary blastoma" GO:0016407 oboInOwl:hasExactSynonym "acetylase activity" MONDO:0006002 oboInOwl:hasExactSynonym "genitourinary system tuberculosis" MONDO:0001336 oboInOwl:hasExactSynonym "hereditary hyperlipidemia (disease)" @@ -167266,6 +169434,7 @@ MONDO:0013041 oboInOwl:hasExactSynonym "aHUS with I factor anomaly" MONDO:0013041 oboInOwl:hasExactSynonym "D-HUS with I factor anomaly" MONDO:0010655 oboInOwl:hasExactSynonym "Lujan-Fryns syndrome" MONDO:0010655 oboInOwl:hasExactSynonym "Lujan syndrome" +MONDO:0010655 oboInOwl:hasExactSynonym "Lujan-Fryns syndrome, X-linked recessive" MONDO:0011601 oboInOwl:hasExactSynonym "neonatal intrahepatic cholestasis due to citrin deficiency" MONDO:0011601 oboInOwl:hasExactSynonym "neonatal intrahepatic cholestasis caused by citrin deficiency" MONDO:0011601 oboInOwl:hasExactSynonym "NICCD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -167273,22 +169442,23 @@ MONDO:0004391 oboInOwl:hasExactSynonym "extraosseous chondrosarcoma of adults" MONDO:0009487 oboInOwl:hasExactSynonym "keratoconus and congenital hip dysplasia" MONDO:0012836 oboInOwl:hasExactSynonym "systemic lupus erythematosus, susceptibility to, 12" MONDO:0012836 oboInOwl:hasExactSynonym "SLEB12" http://purl.obolibrary.org/obo/mondo#ABBREVIATION -MONDO:0009877 oboInOwl:hasExactSynonym "Laron-type dwarfism" -MONDO:0009877 oboInOwl:hasExactSynonym "primary GH insensitivity" -MONDO:0009877 oboInOwl:hasExactSynonym "GH receptor deficiency" MONDO:0009877 oboInOwl:hasExactSynonym "primary growth hormone resistance" -MONDO:0009877 oboInOwl:hasExactSynonym "Laron syndrome" MONDO:0009877 oboInOwl:hasExactSynonym "complete growth hormone insensitivity" +MONDO:0009877 oboInOwl:hasExactSynonym "Laron-type isolated somatotropin defect" +MONDO:0009877 oboInOwl:hasExactSynonym "Laron-type dwarfism" +MONDO:0009877 oboInOwl:hasExactSynonym "Laron syndrome" MONDO:0009877 oboInOwl:hasExactSynonym "short stature due to growth hormone resistance" -MONDO:0009877 oboInOwl:hasExactSynonym "primary growth hormone insensitivity" MONDO:0009877 oboInOwl:hasExactSynonym "Growth hormone receptor deficiency" +MONDO:0009877 oboInOwl:hasExactSynonym "primary GH insensitivity" +MONDO:0009877 oboInOwl:hasExactSynonym "GH receptor deficiency" MONDO:0009877 oboInOwl:hasExactSynonym "primary GH resistance" -MONDO:0009877 oboInOwl:hasExactSynonym "Laron-type isolated somatotropin defect" +MONDO:0009877 oboInOwl:hasExactSynonym "primary growth hormone insensitivity" MONDO:0007790 oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy type III" MONDO:0007790 oboInOwl:hasExactSynonym "HMSN 3" MONDO:0007790 oboInOwl:hasExactSynonym "hypertrophic neuropathy of Dejerine-Sottas" MONDO:0007790 oboInOwl:hasExactSynonym "Charcot-Marie-Tooth disease type 3" MONDO:0007790 oboInOwl:hasExactSynonym "Dejerine-Sottas syndrome" +MONDO:0007790 oboInOwl:hasExactSynonym "dejerine-sottas disease" MONDO:0007790 oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy type 3" MONDO:0007790 oboInOwl:hasExactSynonym "HMSN III" MONDO:0007790 oboInOwl:hasExactSynonym "Dejerine-Sottas neuropathy" @@ -167391,13 +169561,16 @@ GO:0031334 oboInOwl:hasExactSynonym "upregulation of protein complex assembly" GO:0031334 oboInOwl:hasExactSynonym "up regulation of protein complex assembly" MONDO:0011387 oboInOwl:hasExactSynonym "psoriasis 4, susceptibility to" MONDO:0011387 oboInOwl:hasExactSynonym "PSORS4" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0011387 oboInOwl:hasExactSynonym "psoriasis susceptibility 4" MONDO:0015211 oboInOwl:hasExactSynonym "nonsyndromic intestinal malformation" MONDO:0015211 oboInOwl:hasExactSynonym "isolated intestinal malformation" +MONDO:0020746 oboInOwl:hasExactSynonym "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B" HP:0007556 oboInOwl:hasExactSynonym "Plantar hyperkeratoses" GO:0004749 oboInOwl:hasExactSynonym "ribose-phosphate pyrophosphokinase activity" GO:1904320 oboInOwl:hasExactSynonym "up regulation of smooth muscle contraction involved in micturition" GO:1904320 oboInOwl:hasExactSynonym "upregulation of smooth muscle contraction involved in micturition" GO:1904320 oboInOwl:hasExactSynonym "up-regulation of smooth muscle contraction involved in micturition" +MONDO:0009309 oboInOwl:hasExactSynonym "chronic granulomatous disease 1, autosomal recessive" MONDO:0009309 oboInOwl:hasExactSynonym "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1" MONDO:0009309 oboInOwl:hasExactSynonym "NCF1 chronic granulomatous disease" MONDO:0009309 oboInOwl:hasExactSynonym "chronic granulomatous disease caused by mutation in NCF1" @@ -167412,6 +169585,7 @@ MONDO:0030008 oboInOwl:hasExactSynonym "COMBINED OXIDATIVE PHOSPHORYLATION DEFIC MONDO:0033374 oboInOwl:hasExactSynonym "DEE65" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033374 oboInOwl:hasExactSynonym "EIEE65" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0033374 oboInOwl:hasExactSynonym "epileptic encephalopathy, early infantile, 65" +MONDO:0033374 oboInOwl:hasExactSynonym "developmental and epileptic encephalopathy 65" MONDO:0015194 oboInOwl:hasExactSynonym "anemia, hypochromic with iron loading" MONDO:0015194 oboInOwl:hasExactSynonym "anemia sideroblastic" MONDO:0015194 oboInOwl:hasExactSynonym "sideroblastic anemia" @@ -167428,6 +169602,7 @@ MONDO:0021941 oboInOwl:hasExactSynonym "infection by trypanosoma rhodesiense" MONDO:0021941 oboInOwl:hasExactSynonym "rhodesian trypanosomiasis" MONDO:0017197 oboInOwl:hasExactSynonym "Whyte-Murphy syndrome" MONDO:0018143 oboInOwl:hasExactSynonym "pyruvate carboxylase deficiency type C" +MONDO:0010657 oboInOwl:hasExactSynonym "methylmalonic aciduria and homocysteinemia, cblx type, X-linked recessive" MONDO:0010657 oboInOwl:hasExactSynonym "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX" MONDO:0010657 oboInOwl:hasExactSynonym "methylmalonic aciduria with homocystinuria, type cblX" MONDO:0017373 oboInOwl:hasExactSynonym "poliomyelitis" @@ -167553,9 +169728,9 @@ MONDO:0002254 oboInOwl:hasExactSynonym "symptom cluster" MONDO:0002254 oboInOwl:hasExactSynonym "cluster, symptom" MONDO:0002254 oboInOwl:hasExactSynonym "syndromic disease" MONDO:0002254 oboInOwl:hasExactSynonym "syndrome associated with disease or disorder" -MONDO:0021178 oboInOwl:hasExactSynonym "traumatic injury" MONDO:0021178 oboInOwl:hasExactSynonym "injury" MONDO:0021178 oboInOwl:hasExactSynonym "wound" +MONDO:0021178 oboInOwl:hasExactSynonym "traumatic injury" MONDO:0021178 oboInOwl:hasExactSynonym "trauma" GO:2000284 oboInOwl:hasExactSynonym "positive regulation of amino acid biosynthetic process" GO:2000284 oboInOwl:hasExactSynonym "positive regulation of cellular amino acid biosynthesis" @@ -167605,6 +169780,7 @@ MONDO:0011237 oboInOwl:hasExactSynonym "hyperlipidemia, combined, type 1" MONDO:0011237 oboInOwl:hasExactSynonym "familial combined hyperlipidemia caused by mutation in USF1" MONDO:0011237 oboInOwl:hasExactSynonym "USF1 familial combined hyperlipidemia" MONDO:0011237 oboInOwl:hasExactSynonym "hyperlipidemia, combined, 1" +MONDO:0011237 oboInOwl:hasExactSynonym "hyperlipidemia, familial combined, susceptibility to" MONDO:0006900 oboInOwl:hasExactSynonym "inflammation of perirenal fat" MONDO:0006900 oboInOwl:hasExactSynonym "perirenal fat inflammation" NCBITaxon:766 oboInOwl:hasExactSynonym "rickettsias" http://purl.obolibrary.org/obo/ncbitaxon#genbank_common_name @@ -167615,6 +169791,7 @@ GO:0045764 oboInOwl:hasExactSynonym "upregulation of amino acid metabolic proces GO:0045764 oboInOwl:hasExactSynonym "positive regulation of amino acid metabolism" MONDO:0009372 oboInOwl:hasExactSynonym "Xanthurenic aciduria" MONDO:0009372 oboInOwl:hasExactSynonym "kynureninase deficiency" +MONDO:0030869 oboInOwl:hasExactSynonym "spermatogenic failure" MONDO:0030869 oboInOwl:hasExactSynonym "spermatogenic failures 50" MONDO:0030869 oboInOwl:hasExactSynonym "SPGF50" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0011595 oboInOwl:hasExactSynonym "congenital onychodysplasia of the index fingers" @@ -167657,6 +169834,8 @@ GO:1900403 oboInOwl:hasExactSynonym "negative regulation of cellular amino acid GO:1900403 oboInOwl:hasExactSynonym "negative regulation of cellular amino acid anabolism by negative regulation of transcription from RNA polymerase II promoter" GO:1900403 oboInOwl:hasExactSynonym "negative regulation of amino acid biosynthetic process by negative regulation of transcription from RNA polymerase II promoter" MONDO:0012997 oboInOwl:hasExactSynonym "Hardikar syndrome" +MONDO:0060489 oboInOwl:hasExactSynonym "46, XX sex reversal 4" +MONDO:0012177 oboInOwl:hasExactSynonym "ataxia, posterior column, with retinitis pigmentosa" MONDO:0012177 oboInOwl:hasExactSynonym "PCARP" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0012177 oboInOwl:hasExactSynonym "autosomal recessive posterior column ataxia and retinitis pigmentosa" CHEBI:26348 oboInOwl:hasExactSynonym "prosthetic group" @@ -167667,6 +169846,7 @@ MONDO:0014356 oboInOwl:hasExactSynonym "UQCC2 mitochondrial complex III deficien MONDO:0014356 oboInOwl:hasExactSynonym "mitochondrial complex III deficiency caused by mutation in UQCC2" HP:0100491 oboInOwl:hasExactSynonym "Abnormality of the joints of the lower limbs" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0100491 oboInOwl:hasExactSynonym "Abnormality of lower limb joint" http://purl.obolibrary.org/obo/hp.obo#layperson +MONDO:0012082 oboInOwl:hasExactSynonym "Asperger syndrome susceptibility 1, Isolated cases" MONDO:0012082 oboInOwl:hasExactSynonym "ASPG1" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0013293 oboInOwl:hasExactSynonym "isolated microphthalmia caused by mutation in PRSS56" MONDO:0013293 oboInOwl:hasExactSynonym "posterior nonsyndromic microphthalmia" @@ -167678,8 +169858,8 @@ MONDO:0015584 oboInOwl:hasExactSynonym "idiopathic catastrophic epileptic enceph MONDO:0015584 oboInOwl:hasExactSynonym "FIRES" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015584 oboInOwl:hasExactSynonym "acute encephalitis with refractory repetitive partial seizures" MONDO:0015584 oboInOwl:hasExactSynonym "DESC syndrome" -MONDO:0015584 oboInOwl:hasExactSynonym "acute non-herpetic encephalitis with severe refractory status epilepticus" MONDO:0015584 oboInOwl:hasExactSynonym "devastating epileptic encephalopathy in school-aged children" +MONDO:0015584 oboInOwl:hasExactSynonym "acute non-herpetic encephalitis with severe refractory status epilepticus" MONDO:0015584 oboInOwl:hasExactSynonym "severe refractory status epilepticus owing to presumed encephalitis" MONDO:0015584 oboInOwl:hasExactSynonym "fever-induced refractory epileptic encephalopathy in school-aged children" MONDO:0015584 oboInOwl:hasExactSynonym "AERRPS" http://purl.obolibrary.org/obo/mondo#ABBREVIATION @@ -167762,6 +169942,7 @@ GO:1905331 oboInOwl:hasExactSynonym "downregulation of morphogenesis of an epith GO:1905331 oboInOwl:hasExactSynonym "negative regulation of epithelium morphogenesis" GO:1905331 oboInOwl:hasExactSynonym "down regulation of morphogenesis of an epithelium" MONDO:0016166 oboInOwl:hasExactSynonym "genetic hyperparathyroidism" +MONDO:0010649 oboInOwl:hasExactSynonym "megalocornea 1, X-linked, X-linked recessive" MONDO:0010649 oboInOwl:hasExactSynonym "isolated congenital megalocornea" MONDO:0010649 oboInOwl:hasExactSynonym "congenital anterior megalophthalmia" MONDO:0019542 oboInOwl:hasExactSynonym "acute hepatic failure" @@ -167781,7 +169962,6 @@ MONDO:0009222 oboInOwl:hasExactSynonym "bifid femur-monodactylous ectrodactyly s MONDO:0009222 oboInOwl:hasExactSynonym "Gollop-Wolfgang complex" HP:0003112 oboInOwl:hasExactSynonym "Abnormality of serum amino acid levels" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0003112 oboInOwl:hasExactSynonym "Abnormality of serum amino acid level" -MONDO:0001735 oboInOwl:hasExactSynonym "sinus disorder" MONDO:0001735 oboInOwl:hasExactSynonym "disorder of nasal sinus" MONDO:0001735 oboInOwl:hasExactSynonym "paranasal sinus disease or disorder" MONDO:0001735 oboInOwl:hasExactSynonym "disease or disorder of paranasal sinus" @@ -167789,6 +169969,7 @@ MONDO:0001735 oboInOwl:hasExactSynonym "disorder of paranasal sinus" MONDO:0001735 oboInOwl:hasExactSynonym "paranasal sinus disease" MONDO:0001735 oboInOwl:hasExactSynonym "disease of paranasal sinus" MONDO:0001735 oboInOwl:hasExactSynonym "paranasal sinus disorder" +MONDO:0001735 oboInOwl:hasExactSynonym "sinus disorder" MONDO:0006033 oboInOwl:hasExactSynonym "DIPG" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0003390 oboInOwl:hasExactSynonym "Glycogen-rich, clear cell breast carcinoma" MONDO:0003390 oboInOwl:hasExactSynonym "glycogen-rich carcinoma (morphologic abnormality)" @@ -167831,6 +170012,7 @@ MONDO:0011760 oboInOwl:hasExactSynonym "mucopolysaccharidosis type V" MONDO:0020063 oboInOwl:hasExactSynonym "Dysmorphologic diseases with phakomatosis" MONDO:0000976 oboInOwl:hasExactSynonym "paratesticular lipoma" MONDO:0015016 oboInOwl:hasExactSynonym "anterior segment dysgenesis 6" +MONDO:0015016 oboInOwl:hasExactSynonym "anterior segment dysgenesis 6, multiple subtypes" MONDO:0015016 oboInOwl:hasExactSynonym "ASGD6" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0015016 oboInOwl:hasExactSynonym "anterior segment dysgenesis type 6" NCBITaxon:12080 oboInOwl:hasExactSynonym "Human poliovirus type 1" http://purl.obolibrary.org/obo/ncbitaxon#equivalent_name @@ -167945,6 +170127,7 @@ MONDO:0008224 oboInOwl:hasExactSynonym "primary hyperkalemic periodic paralysis" MONDO:0008224 oboInOwl:hasExactSynonym "normokalemic periodic paralysis, potassium-sensitive" MONDO:0008224 oboInOwl:hasExactSynonym "adynamia episodica hereditaria" MONDO:0008224 oboInOwl:hasExactSynonym "primary hyperPP" +MONDO:0008224 oboInOwl:hasExactSynonym "hyperkalemic periodic paralysis, type 2" MONDO:0008224 oboInOwl:hasExactSynonym "adynamia episodica hereditaria with or without myotonia" MONDO:0008224 oboInOwl:hasExactSynonym "familial hyperkalemic periodic paralysis (disorder) [ambiguous]" MONDO:0015727 oboInOwl:hasExactSynonym "Mosaic trisomy type 15" @@ -167976,6 +170159,7 @@ MONDO:0007109 oboInOwl:hasExactSynonym "congenital dyserythropoietic anemia type MONDO:0007109 oboInOwl:hasExactSynonym "CDA type III" MONDO:0007109 oboInOwl:hasExactSynonym "CDA III" MONDO:0007109 oboInOwl:hasExactSynonym "CDA type 3" +MONDO:0007109 oboInOwl:hasExactSynonym "dyserythropoietic anemia, congenital, type III" HP:0001159 oboInOwl:hasExactSynonym "Webbed fingers or toes" http://purl.obolibrary.org/obo/hp.obo#layperson MONDO:0014066 oboInOwl:hasExactSynonym "UQCRC2 mitochondrial complex III deficiency" MONDO:0014066 oboInOwl:hasExactSynonym "mitochondrial complex III deficiency caused by mutation in UQCRC2" @@ -167983,13 +170167,13 @@ MONDO:0043762 oboInOwl:hasExactSynonym "ectopic pregnancy of fallopian tube" MONDO:0043762 oboInOwl:hasExactSynonym "fallopian tube ectopic pregnancy" MONDO:0043762 oboInOwl:hasExactSynonym "tubal pregnancy" MONDO:0002749 oboInOwl:hasExactSynonym "extracranial neuroblastoma" -MONDO:0100481 oboInOwl:hasExactSynonym "active TB" HP:0000272 oboInOwl:hasExactSynonym "Flat cheekbone" HP:0000272 oboInOwl:hasExactSynonym "Decreased size of malar bone" HP:0000272 oboInOwl:hasExactSynonym "Malar hypoplasia" HP:0000272 oboInOwl:hasExactSynonym "Underdevelopment of malar bone" HP:0000272 oboInOwl:hasExactSynonym "Zygomatic flattening" http://purl.obolibrary.org/obo/hp.obo#layperson HP:0000272 oboInOwl:hasExactSynonym "Depressed malar region" +MONDO:0100481 oboInOwl:hasExactSynonym "active TB" GO:0009156 oboInOwl:hasExactSynonym "ribonucleoside monophosphate synthesis" GO:0009156 oboInOwl:hasExactSynonym "ribonucleoside monophosphate formation" GO:0009156 oboInOwl:hasExactSynonym "ribonucleoside monophosphate biosynthesis" @@ -167998,6 +170182,7 @@ MONDO:0030061 oboInOwl:hasExactSynonym "periventricular nodular heterotopia 9" MONDO:0030061 oboInOwl:hasExactSynonym "PVNH9" http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:0030061 oboInOwl:hasExactSynonym "PERIVENTRICULAR NODULAR HETEROTOPIA 9" MONDO:0012750 oboInOwl:hasExactSynonym "LAAHD" http://purl.obolibrary.org/obo/mondo#ABBREVIATION +MONDO:0012750 oboInOwl:hasExactSynonym "congenital arthrogryposis with anterior horn cell disease" MONDO:0012750 oboInOwl:hasExactSynonym "Vuopala disease" MONDO:0009665 oboInOwl:hasExactSynonym "late-onset multiple carboxylase deficiency" MONDO:0009665 oboInOwl:hasExactSynonym "biotinidase deficiency" @@ -168020,8 +170205,8 @@ MONDO:0016459 oboInOwl:hasExactSynonym "pseudo-Angelman syndrome" MONDO:0016459 oboInOwl:hasExactSynonym "Del(2)(q23.1)" MONDO:0016459 oboInOwl:hasExactSynonym "monosomy 2q23.1" MONDO:0001737 oboInOwl:hasExactSynonym "neonatal tetanus" -MONDO:0017405 oboInOwl:hasExactSynonym "Del(1)p(21.3)" MONDO:0017405 oboInOwl:hasExactSynonym "monosomy 1p21.3" +MONDO:0017405 oboInOwl:hasExactSynonym "Del(1)p(21.3)" MONDO:0020298 oboInOwl:hasExactSynonym "UPD(15)mat" MONDO:0020298 oboInOwl:hasExactSynonym "Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15" CL:0001053 oboInOwl:hasExactSynonym "IgD- memory B cell" diff --git a/reports/xrefs.tsv b/reports/xrefs.tsv index 2ca869a8b1..f31be58eec 100644 --- a/reports/xrefs.tsv +++ b/reports/xrefs.tsv @@ -1,17 +1,16 @@ cls xref MONDO:0015623 "Orphanet:165958" MONDO:0015623 "SCTID:764811001" -MONDO:0015623 "ICD10:B87.8" +MONDO:0015623 "ICD10CM:B87.8" MONDO:0018846 "SCTID:59981001" -MONDO:0018846 "ICD10:Q55.5" MONDO:0018846 "NCIT:C99009" MONDO:0018846 "MESH:C536649" MONDO:0018846 "Orphanet:49" MONDO:0018846 "GARD:0004272" +MONDO:0013523 "ICD10CM:E34.8" MONDO:0013523 "Orphanet:280576" MONDO:0013523 "UMLS:C3151446" MONDO:0013523 "GARD:0011008" -MONDO:0013523 "ICD10:E34.8" MONDO:0013523 "OMIM:614008" MONDO:0003516 "DOID:5565" MONDO:0003516 "UMLS:C1368888" @@ -28,12 +27,12 @@ MONDO:0005303 "NCIT:C3894" MONDO:0005303 "SCTID:191816009" NCBITaxon:12058 "GC_ID:1" MONDO:0019835 "ICD9:279.49" -MONDO:0019835 "ICD10:E23.6" MONDO:0019835 "SCTID:237706000" MONDO:0019835 "ICD9:253.8" MONDO:0019835 "NCIT:C132055" MONDO:0019835 "Orphanet:95506" MONDO:0019835 "MESH:D000069281" +MONDO:0019835 "ICD10CM:E23.6" NCBITaxon:34613 "GC_ID:1" MONDO:0015506 "UMLS:CN199638" MONDO:0015506 "Orphanet:156532" @@ -48,31 +47,26 @@ MONDO:0011565 "NCIT:C84442" MONDO:0011565 "GARD:0009226" MONDO:0011565 "SCTID:237602007" MONDO:0011565 "ICD9:277.7" +MONDO:0011565 "ICD10CM:E88.81" MONDO:0011565 "UMLS:C0524620" MONDO:0011565 "DOID:14221" MONDO:0011565 "OMIM:605552" MONDO:0011565 "MESH:D024821" -MONDO:0011565 "ICD10:E88.81" MONDO:0011565 "UMLS:C2930930" MONDO:0011565 "EFO:0000195" -MONDO:0020556 "ICD10:C34.3" MONDO:0020556 "UMLS:CN207458" -MONDO:0020556 "ICD10:C34.9" MONDO:0020556 "Orphanet:99934" -MONDO:0020556 "ICD10:C34.1" MONDO:0020556 "ICD9:162.9" MONDO:0020556 "NCIT:C45627" -MONDO:0020556 "ICD10:C34.2" -MONDO:0020556 "ICD10:C34.8" MONDO:0020556 "SCTID:707672001" MONDO:0002114 "UMLS:C1335307" MONDO:0002114 "NCIT:C5714" MONDO:0002114 "DOID:1792" +MONDO:0001558 "ICD10CM:Q60.6" MONDO:0001558 "DOID:12594" MONDO:0001558 "GARD:0004462" MONDO:0001558 "UMLS:C0178426" MONDO:0001558 "NCIT:C40435" -MONDO:0001558 "ICD10:Q60.6" MONDO:0001558 "SCTID:41962002" MONDO:0008017 "GARD:0005427" MONDO:0008017 "MESH:C536476" @@ -92,7 +86,6 @@ HP:0002149 "MSH:D033461" MONDO:0044311 "OMIM:617412" MONDO:0044311 "UMLS:C4479431" MONDO:0013744 "OMIM:614422" -MONDO:0013744 "ICD10:Q12.0" MONDO:0013744 "UMLS:C3280758" MONDO:0013744 "DOID:0110252" MONDO:0013744 "Orphanet:98989" @@ -128,9 +121,9 @@ MONDO:0011095 "Orphanet:154" MONDO:0011095 "OMIM:601494" MONDO:0011095 "MESH:C563306" MONDO:0011095 "Orphanet:54260" +MONDO:0011095 "ICD10CM:I42.0" MONDO:0011095 "UMLS:C1832243" MONDO:0011095 "DOID:0110426" -MONDO:0011095 "ICD10:I42.0" MONDO:0011752 "OMIM:606966" MONDO:0011752 "SCTID:446989009" MONDO:0011752 "UMLS:C1847013" @@ -141,8 +134,8 @@ MONDO:0011752 "MESH:C564640" MONDO:0002999 "NCIT:C7009" MONDO:0002999 "DOID:4438" MONDO:0015729 "SCTID:764621006" +MONDO:0015729 "ICD10CM:Q92.1" MONDO:0015729 "Orphanet:1708" -MONDO:0015729 "ICD10:Q92.1" MONDO:0015729 "MESH:C538041" MONDO:0020755 "SCTID:233916004" MONDO:0013931 "Orphanet:44" @@ -161,17 +154,16 @@ MONDO:0019248 "Orphanet:79212" MONDO:0019248 "DOID:0080488" MONDO:0019248 "MESH:D009081" MONDO:0019638 "Orphanet:93108" -MONDO:0019638 "ICD10:Q61.4" MONDO:0019638 "HP:0000110" +MONDO:0017551 "ICD10CM:Q74.0" MONDO:0017551 "Orphanet:295211" -MONDO:0017551 "ICD10:Q74.0" MONDO:0017204 "SCTID:763621004" MONDO:0017204 "UMLS:CN202676" MONDO:0017204 "Orphanet:279894" -MONDO:0017204 "ICD10:T37.2" -MONDO:0017204 "ICD10:H35.3" -MONDO:0018762 "ICD10:E23.0" +MONDO:0017204 "ICD10CM:H35.3" +MONDO:0017204 "ICD10CM:T37.2" MONDO:0018762 "Orphanet:467" +MONDO:0018762 "ICD10CM:E23.0" MONDO:0014326 "DOID:0110929" MONDO:0014326 "OMIM:615731" MONDO:0014326 "UMLS:C3810384" @@ -181,14 +173,14 @@ MONDO:0002045 "SCTID:271569006" MONDO:0002045 "MESH:D006849" MONDO:0002045 "NCIT:C34501" MONDO:0002045 "ICD9:331.3" -MONDO:0002045 "ICD10:G91.0" MONDO:0002045 "DOID:1573" MONDO:0002045 "UMLS:C0009451" +MONDO:0002045 "ICD10CM:G91.0" MONDO:0013111 "Orphanet:217371" MONDO:0013111 "GARD:0010593" MONDO:0013111 "UMLS:C3278664" -MONDO:0013111 "ICD10:K72.0" MONDO:0013111 "OMIM:613070" +MONDO:0013111 "ICD10CM:K72.0" MONDO:0004934 "UMLS:C0031111" MONDO:0004934 "MESH:D010522" MONDO:0004934 "NCIT:C13184" @@ -200,12 +192,12 @@ NCBITaxon:45258 "GC_ID:11" MONDO:0009318 "Orphanet:2108" MONDO:0009318 "GARD:0000288" MONDO:0009318 "SCTID:7903009" -MONDO:0009318 "ICD10:Q87.0" MONDO:0009318 "DOID:4534" MONDO:0009318 "MESH:D006210" MONDO:0009318 "OMIM:234100" MONDO:0009318 "NCIT:C84746" MONDO:0009318 "UMLS:C0018522" +MONDO:0009318 "ICD10CM:Q87.0" MONDO:0015916 "UMLS:CN200514" MONDO:0015916 "Orphanet:182064" MONDO:0021083 "OMIM:135700" @@ -213,8 +205,8 @@ MONDO:0021083 "Orphanet:45358" MONDO:0011973 "OMIM:608118" MONDO:0011973 "UMLS:C1842486" MONDO:0011973 "MESH:C564286" +MONDO:0015593 "ICD10CM:G13.1" MONDO:0015593 "Orphanet:163914" -MONDO:0015593 "ICD10:G13.1" NCBITaxon:92088 "GC_ID:1" HP:0012825 "UMLS:C1513302" HP:0012825 "SNOMEDCT_US:446411000124101" @@ -230,12 +222,10 @@ MONDO:0003486 "NCIT:C54244" MONDO:0005106 "DOID:3315" MONDO:0005106 "MESH:D008067" MONDO:0005106 "EFO:0000759" -MONDO:0005106 "ICD10:D17" MONDO:0005106 "NCIT:C3192" MONDO:0005106 "ICDO:8850/0" MONDO:0005106 "ICD9:214" MONDO:0005106 "OMIM:151900" -MONDO:0005106 "ICD10:D17.9" MONDO:0005106 "UMLS:C0023798" MONDO:0005106 "SCTID:93163002" MONDO:0005106 "ICD9:214.9" @@ -243,7 +233,6 @@ MONDO:0000920 "NCIT:C4803" MONDO:0000920 "DOID:10021" MONDO:0000920 "SCTID:254570009" MONDO:0000920 "MESH:D004379" -MONDO:0000920 "ICD10:C17.0" MONDO:0000920 "NCIT:C9328" MONDO:0000920 "ICD9:152.0" MONDO:0000920 "SCTID:363403002" @@ -254,19 +243,19 @@ MONDO:0004305 "DOID:7611" MONDO:0003108 "NCIT:C5423" MONDO:0003108 "UMLS:C1332923" MONDO:0003108 "DOID:4707" -MONDO:0020159 "ICD10:Q10.2" MONDO:0020159 "MedDRA:10014923" +MONDO:0020159 "ICD10CM:Q10.2" MONDO:0020159 "Orphanet:98568" MONDO:0020159 "SCTID:20392000" MONDO:0009184 "OMIM:226735" MONDO:0009184 "MESH:C565588" MONDO:0023106 "MESH:C536393" MONDO:0015780 "MedDRA:10062759" -MONDO:0015780 "ICD10:Q82.8" MONDO:0015780 "OMIMPS:127550" MONDO:0015780 "OMIM:613989" MONDO:0015780 "GARD:0010905" MONDO:0015780 "OMIM:615190" +MONDO:0015780 "ICD10CM:Q82.8" MONDO:0015780 "NCIT:C111802" MONDO:0015780 "UMLS:C0265965" MONDO:0015780 "OMIM:613988" @@ -280,6 +269,7 @@ MONDO:0015780 "OMIM:613990" MONDO:0015780 "OMIM:616353" MONDO:0015780 "DOID:2729" MONDO:0015780 "Orphanet:1775" +MONDO:0024664 "ICD10CM:O10-O16" MONDO:0024664 "NCIT:C9243" MONDO:0024664 "MESH:D046110" MONDO:0024664 "SCTID:48194001" @@ -287,34 +277,35 @@ MONDO:0007621 "DOID:0111358" MONDO:0007621 "MESH:C537062" MONDO:0007621 "ICD9:759.89" MONDO:0007621 "Orphanet:2044" -MONDO:0007621 "ICD10:Q87.8" MONDO:0007621 "GARD:0006455" MONDO:0007621 "UMLS:C0729582" +MONDO:0007621 "ICD10CM:Q87.8" MONDO:0007621 "SCTID:312214005" MONDO:0007621 "OMIM:136140" MONDO:0014734 "DOID:0111315" MONDO:0014734 "OMIM:616685" MONDO:0005746 "NCIT:C128396" MONDO:0005746 "ICD9:127.4" -MONDO:0005746 "ICD10:B80" MONDO:0005746 "EFO:0007254" MONDO:0005746 "UMLS:C0030100" MONDO:0005746 "SCTID:266162007" MONDO:0005746 "UMLS:C0086227" MONDO:0005746 "DOID:7457" +MONDO:0005746 "ICD10CM:B80" MONDO:0021495 "UMLS:C0347208" MONDO:0021495 "NCIT:C4601" MONDO:0021495 "SCTID:92413008" -MONDO:0021148 "EFO:1001331" -MONDO:0021148 "MESH:D005833" -MONDO:0021148 "UMLS:C0017416" -MONDO:0021148 "NCIT:C3053" MONDO:0018354 "UMLS:CN226094" -MONDO:0018354 "ICD10:Q87.1" +MONDO:0018354 "ICD10CM:Q87.1" MONDO:0018354 "Orphanet:398073" MONDO:0017100 "UMLS:CN202458" +MONDO:0017100 "ICD10CM:D82.8" MONDO:0017100 "Orphanet:2690" -MONDO:0017100 "ICD10:D82.8" +MONDO:0021148 "EFO:1001331" +MONDO:0021148 "MESH:D005833" +MONDO:0021148 "UMLS:C0017416" +MONDO:0021148 "NCIT:C3053" +MONDO:0021148 "ICD10CM:C51-C58" MONDO:0012837 "OMIM:612255" MONDO:0012837 "DOID:0110897" MONDO:0012837 "UMLS:C2677094" @@ -326,15 +317,14 @@ MONDO:0004526 "UMLS:C1513364" MONDO:0004526 "UMLS:C1519865" MONDO:0004526 "DOID:8302" MONDO:0004526 "NCIT:C40178" +MONDO:0013996 "ICD10CM:Q82.8" MONDO:0013996 "OMIM:614973" MONDO:0013996 "UMLS:C3554245" -MONDO:0013996 "ICD10:Q82.8" MONDO:0013996 "Orphanet:398166" MONDO:0013996 "Orphanet:398173" MONDO:0019480 "SCTID:724649000" MONDO:0019480 "DOID:7146" MONDO:0019480 "Orphanet:86897" -MONDO:0019480 "ICD10:C96.4" MONDO:0019480 "EFO:0007336" MONDO:0019480 "MESH:D054752" MONDO:0019480 "ICDO:9756/3" @@ -342,14 +332,15 @@ MONDO:0019480 "GARD:0010491" MONDO:0019480 "NCIT:C6921" MONDO:0019480 "UMLS:C1260327" MONDO:0019480 "ONCOTREE:LCS" +MONDO:0019480 "ICD10CM:C96.4" MONDO:0032918 "OMIM:618792" MONDO:0015508 "UMLS:CN199641" MONDO:0015508 "Orphanet:156604" MONDO:0016719 "GARD:0003632" MONDO:0016719 "UMLS:C2931529" -MONDO:0016719 "ICD10:Q87.8" MONDO:0016719 "MESH:C537544" MONDO:0016719 "Orphanet:2519" +MONDO:0016719 "ICD10CM:Q87.8" MONDO:0006862 "DOID:431" MONDO:0006862 "MedDRA:10048780" MONDO:0006862 "UMLS:C0027073" @@ -357,8 +348,8 @@ MONDO:0006862 "ICD9:729.1" MONDO:0006862 "MESH:D009209" MONDO:0006862 "EFO:1001054" MONDO:0006862 "SCTID:24693007" +MONDO:0018283 "ICD10CM:G71.2" MONDO:0018283 "Orphanet:371040" -MONDO:0018283 "ICD10:G71.2" MONDO:0006174 "UMLS:C1707525" MONDO:0006174 "NCIT:C48449" MONDO:0006174 "EFO:1000208" @@ -366,11 +357,11 @@ MONDO:0020558 "OMIM:607831" MONDO:0020558 "Orphanet:99944" MONDO:0020558 "NCIT:C133886" MONDO:0020558 "UMLS:C1842984" +MONDO:0020558 "ICD10CM:G60.0" MONDO:0020558 "UMLS:C1842983" MONDO:0020558 "UMLS:CN207468" MONDO:0020558 "SCTID:719512003" MONDO:0020558 "GARD:0009199" -MONDO:0020558 "ICD10:G60.0" MONDO:0006350 "UMLS:C0334274" MONDO:0006350 "DOID:4012" MONDO:0006350 "EFO:1000450" @@ -378,39 +369,37 @@ MONDO:0006350 "ICDO:8130/3" MONDO:0006350 "NCIT:C4122" MONDO:0008476 "OMIM:184250" MONDO:0008476 "ICD9:758.89" +MONDO:0008476 "ICD10CM:Q77.7" MONDO:0008476 "SCTID:702350003" MONDO:0008476 "DOID:0080028" MONDO:0008476 "Orphanet:93346" MONDO:0008476 "GARD:0000134" -MONDO:0008476 "ICD10:Q77.7" MONDO:0001337 "DOID:11685" MONDO:0001337 "UMLS:C0376117" MONDO:0001337 "ICD9:702.11" +MONDO:0001337 "ICD10CM:L82.0" MONDO:0001337 "SCTID:442348004" -MONDO:0001337 "ICD10:L82.0" MONDO:0009550 "SCTID:725033008" -MONDO:0009550 "ICD10:E83.4" +MONDO:0009550 "ICD10CM:E83.4" MONDO:0009550 "DOID:0060880" MONDO:0009550 "MESH:C537153" MONDO:0009550 "Orphanet:31043" MONDO:0009550 "OMIM:248250" MONDO:0018541 "Orphanet:427" MONDO:0018541 "SCTID:715343000" +MONDO:0018541 "ICD10CM:E27.4" MONDO:0018541 "UMLS:C4275180" -MONDO:0018541 "ICD10:E27.4" MONDO:0018541 "OMIM:203400" MONDO:0018541 "OMIM:606984" MONDO:0018541 "UMLS:CN205074" MONDO:0018541 "OMIM:610600" MONDO:0014105 "UMLS:C3808981" -MONDO:0014105 "ICD10:E23.0" MONDO:0014105 "DOID:0090090" MONDO:0014105 "OMIM:615269" MONDO:0013042 "OMIM:612924" -MONDO:0013042 "ICD10:D58.8" MONDO:0013042 "Orphanet:2134" +MONDO:0013042 "ICD10CM:D58.8" MONDO:0013042 "Orphanet:93578" -MONDO:0007279 "ICD10:Q12.0" MONDO:0007279 "Orphanet:98989" MONDO:0007279 "OMIM:115660" MONDO:0007279 "DOID:0110260" @@ -426,7 +415,6 @@ MONDO:0010656 "GARD:0013221" MONDO:0010656 "MESH:C567906" MONDO:0010656 "MESH:C564489" MONDO:0010656 "NCIT:C133729" -MONDO:0005967 "ICD10:A18.85" MONDO:0005967 "ICD9:017.7" MONDO:0005967 "EFO:0007492" MONDO:0005967 "DOID:9305" @@ -437,9 +425,7 @@ MONDO:0004713 "ICD9:143.1" MONDO:0004713 "UMLS:C0432581" MONDO:0004713 "SCTID:363384006" MONDO:0004713 "DOID:9125" -MONDO:0004713 "ICD10:C03.1" MONDO:0011602 "OMIM:605818" -MONDO:0011602 "ICD10:H90.3" MONDO:0011602 "UMLS:C1853941" MONDO:0011602 "DOID:0110485" MONDO:0011602 "Orphanet:90636" @@ -461,8 +447,8 @@ MONDO:0015025 "DOID:0080433" MONDO:0015025 "OMIM:617339" MONDO:0015025 "UMLS:C4479208" MONDO:0015025 "UMLS:CN240510" +MONDO:0009080 "ICD10CM:Q87.2" MONDO:0009080 "Orphanet:71271" -MONDO:0009080 "ICD10:Q87.2" MONDO:0009080 "OMIM:220600" MONDO:0009080 "SCTID:723611008" MONDO:0009080 "DOID:0090024" @@ -474,14 +460,14 @@ MONDO:0002778 "NCIT:C5310" MONDO:0002778 "DOID:3809" MONDO:0023193 "GARD:0002387" MONDO:0014483 "OMIM:616079" -MONDO:0014483 "ICD10:H35.5" +MONDO:0014483 "ICD10CM:H35.5" MONDO:0014483 "Orphanet:397758" MONDO:0014483 "UMLS:C4015146" MONDO:0006571 "Wikipedia:Lichen_nitidus" MONDO:0006571 "EFO:1000725" +MONDO:0006571 "ICD10CM:L44.1" MONDO:0006571 "UMLS:C0162849" MONDO:0006571 "ICD9:697.1" -MONDO:0006571 "ICD10:L44.1" MONDO:0006571 "DOID:8573" MONDO:0006571 "SCTID:41890004" MONDO:0006571 "MESH:D017513" @@ -493,7 +479,7 @@ MONDO:0006549 "EFO:1000699" MONDO:0006549 "DOID:8170" MONDO:0006549 "NCIT:C4435" MONDO:0006549 "SCTID:195469007" -MONDO:0011801 "ICD10:G60.2" +MONDO:0011801 "ICD10CM:G60.2" MONDO:0011801 "SCTID:765091006" MONDO:0011801 "Orphanet:94124" MONDO:0011801 "DOID:0090115" @@ -506,6 +492,7 @@ MONDO:0037940 "SCTID:362991006" MONDO:0037940 "UMLS:C1285174" MONDO:0009925 "Orphanet:758" MONDO:0009925 "OMIM:264800" +MONDO:0009925 "ICD10CM:Q82.8" MONDO:0009925 "DOID:2738" MONDO:0009925 "NCIT:C85036" MONDO:0009925 "SCTID:72744008" @@ -514,34 +501,33 @@ MONDO:0009925 "UMLS:C0033847" MONDO:0009925 "SCTID:252246005" MONDO:0009925 "ICD9:757.39" MONDO:0009925 "MedDRA:10037150" -MONDO:0009925 "ICD10:Q82.8" MONDO:0009925 "SCTID:402782006" MONDO:0009925 "MESH:D011561" MONDO:0015212 "UMLS:CN226629" MONDO:0015212 "Orphanet:108969" -MONDO:0003382 "ICD10:H02.9" MONDO:0003382 "ICD9:374.89" MONDO:0003382 "ICD9:374.9" MONDO:0003382 "SCTID:60113004" MONDO:0003382 "DOID:530" MONDO:0003382 "NCIT:C26768" +MONDO:0003382 "ICD10CM:H00" MONDO:0003382 "MESH:D005141" -MONDO:0003382 "ICD10:H00" +MONDO:0003382 "ICD10CM:H00-H05" MONDO:0013588 "Orphanet:2855" MONDO:0013588 "OMIM:614129" MONDO:0013588 "UMLS:C3808414" MONDO:0012334 "MESH:C536863" MONDO:0012334 "SCTID:733029008" -MONDO:0012334 "ICD10:G11.4" MONDO:0012334 "Orphanet:101009" MONDO:0012334 "OMIM:609727" MONDO:0012334 "DOID:0110780" +MONDO:0012334 "ICD10CM:G11.4" MONDO:0012334 "GARD:0009729" MONDO:0012334 "UMLS:C1857855" MONDO:0013417 "MESH:C565169" -MONDO:0013417 "UMLS:C3151071" +MONDO:0013417 "ICD10CM:D84.1" MONDO:0013417 "NCIT:C9468" -MONDO:0013417 "ICD10:D84.1" +MONDO:0013417 "UMLS:C3151071" MONDO:0013417 "Orphanet:280133" MONDO:0013417 "OMIM:613779" MONDO:0013417 "DOID:8354" @@ -554,24 +540,22 @@ MONDO:0006736 "UMLS:C0007868" MONDO:0006736 "ICD9:622.1" MONDO:0006736 "SCTID:73391008" MONDO:0006736 "ICD9:622.10" -MONDO:0006736 "ICD10:N87" MONDO:0006736 "MESH:D002578" MONDO:0007810 "MESH:D016112" MONDO:0007810 "UMLS:C0079584" MONDO:0007810 "DOID:1702" MONDO:0007810 "Orphanet:462" -MONDO:0007810 "ICD10:Q80.0" MONDO:0007810 "GARD:0001897" +MONDO:0007810 "ICD10CM:Q80.0" MONDO:0007810 "NCIT:C84778" MONDO:0007810 "SCTID:254157005" MONDO:0007810 "OMIM:146700" MONDO:0032803 "OMIM:618534" MONDO:0014192 "UMLS:C3809543" -MONDO:0014192 "ICD10:Q34.8" MONDO:0014192 "OMIM:615444" MONDO:0014192 "DOID:0110597" -MONDO:0013775 "ICD10:D68.3" MONDO:0013775 "OMIM:614486" +MONDO:0013775 "ICD10CM:D68.3" MONDO:0013775 "Orphanet:436169" MONDO:0013775 "UMLS:C3280976" MONDO:0013775 "MESH:C566057" @@ -588,7 +572,7 @@ MONDO:0007340 "UMLS:C0008928" MONDO:0007340 "DOID:13994" MONDO:0007340 "OMIM:119600" MONDO:0007340 "SCTID:65976001" -MONDO:0007340 "ICD10:Q74.0" +MONDO:0007340 "ICD10CM:Q74.0" MONDO:0007340 "GARD:0006118" MONDO:0007340 "OMIM:216330" MONDO:0007340 "Orphanet:1452" @@ -602,11 +586,10 @@ MONDO:0002253 "MESH:D055009" MONDO:0002253 "SCTID:48210000" MONDO:0002253 "ICD9:721.9" MONDO:0002253 "DOID:2247" +MONDO:0002253 "ICD10CM:M47" MONDO:0002253 "ICD9:721.3" -MONDO:0002253 "ICD10:M47" -MONDO:0002253 "ICD10:M47.9" MONDO:0002253 "UMLS:C0038019" -MONDO:0020324 "ICD10:C83.3" +MONDO:0020324 "ICD10CM:C83.3" MONDO:0020324 "Orphanet:98839" MONDO:0020324 "NCIT:C4342" MONDO:0020324 "MedDRA:10069643" @@ -624,30 +607,28 @@ MONDO:0006957 "DOID:14089" MONDO:0023067 "GARD:0010431" MONDO:0030070 "OMIM:618948" FOODON:03400129 "http://www.langual.org/langual_thesaurus.asp?termid=A0129" -MONDO:0017577 "ICD10:G90.8" MONDO:0017577 "MESH:C537594" +MONDO:0017577 "ICD10CM:G90.8" MONDO:0017577 "Orphanet:29822" MONDO:0017577 "UMLS:C2931542" MONDO:0017577 "GARD:0004815" -MONDO:0019133 "ICD10:Q87.8" +MONDO:0019133 "ICD10CM:Q87.8" MONDO:0019133 "UMLS:CN205657" MONDO:0019133 "Orphanet:73246" MONDO:0030009 "OMIM:618840" FOODON:03303918 "SUBSET_SIREN:F3918" MONDO:0006003 "DOID:9460" -MONDO:0006003 "ICD10:C54" MONDO:0006003 "EFO:0007532" MONDO:0006003 "SCTID:371972005" MONDO:0006003 "ICD9:182" -MONDO:0006003 "ICD10:C54.9" MONDO:0006003 "NCIT:C61574" NCBITaxon:2267273 "GC_ID:1" -MONDO:0007561 "ICD10:Q77.3" MONDO:0007561 "UMLS:C1838280" MONDO:0007561 "DOID:0070303" MONDO:0007561 "UMLS:C4275061" -MONDO:0007561 "GARD:0002180" MONDO:0007561 "SCTID:715673002" +MONDO:0007561 "GARD:0002180" +MONDO:0007561 "ICD10CM:Q77.3" MONDO:0007561 "Orphanet:93308" MONDO:0007561 "OMIM:132400" MONDO:0019341 "Orphanet:805" @@ -656,7 +637,6 @@ MONDO:0019341 "OMIM:191100" MONDO:0019341 "GARD:0000946" MONDO:0019341 "MedDRA:10045138" MONDO:0019341 "OMIM:613254" -MONDO:0019341 "ICD10:Q85.1" MONDO:0017198 "SCTID:367489004" MONDO:0017198 "Orphanet:2781" MONDO:0017198 "DOID:13533" @@ -667,15 +647,14 @@ MONDO:0017198 "SCTID:1926006" MONDO:0017198 "MedDRA:10031280" MONDO:0017198 "NCIT:C26840" MONDO:0017198 "HP:0011002" -MONDO:0017198 "ICD10:Q78.2" MONDO:0018144 "OMIM:610542" +MONDO:0018144 "ICD10CM:G70.2" MONDO:0018144 "Orphanet:353327" -MONDO:0018144 "ICD10:G70.2" MONDO:0018144 "OMIM:616228" MONDO:0018144 "OMIM:614750" MONDO:0018144 "OMIM:616227" MONDO:0010658 "MESH:C564106" -MONDO:0010658 "ICD10:Q87.8" +MONDO:0010658 "ICD10CM:Q87.8" MONDO:0010658 "DOID:0060804" MONDO:0010658 "OMIM:309545" MONDO:0010658 "UMLS:C1839792" @@ -697,14 +676,12 @@ MONDO:0005265 "OMIM:612261" MONDO:0005265 "NCIT:C3138" MONDO:0005265 "OMIM:612278" MONDO:0016832 "Orphanet:261102" -MONDO:0016832 "ICD10:Q92.3" MONDO:0016832 "UMLS:CN202160" MONDO:0011604 "OMIM:605822" +MONDO:0011604 "ICD10CM:Q87.5" MONDO:0011604 "Orphanet:85194" MONDO:0011604 "SCTID:715653007" -MONDO:0011604 "ICD10:Q87.5" MONDO:0017764 "Orphanet:309845" -MONDO:0017764 "ICD10:E83.2" MONDO:0017764 "ICD9:275.8" MONDO:0017764 "MedDRA:10048260" MONDO:0017764 "SCTID:46727001" @@ -717,11 +694,11 @@ MONDO:0000599 "DOID:0060047" MONDO:0009728 "MESH:C537699" MONDO:0009728 "UMLS:C1855681" MONDO:0009728 "Orphanet:655" +MONDO:0009728 "ICD10CM:Q61.5" MONDO:0009728 "DOID:0111112" MONDO:0009728 "UMLS:CN205459" MONDO:0009728 "OMIM:615382" MONDO:0009728 "NCIT:C74998" -MONDO:0009728 "ICD10:Q61.5" MONDO:0009728 "OMIM:256100" MONDO:0009728 "Orphanet:93592" MONDO:0009728 "SCTID:444830001" @@ -749,13 +726,13 @@ MONDO:0016362 "OMIM:615083" MONDO:0016362 "OMIM:612591" MONDO:0016362 "MESH:C538265" MONDO:0016362 "GARD:0008532" -MONDO:0016362 "ICD10:D12.6" MONDO:0016362 "SCTID:715866009" MONDO:0016362 "NCIT:C6729" MONDO:0016362 "Orphanet:220460" MONDO:0016362 "UMLS:C2674616" MONDO:0016362 "OMIM:608456" MONDO:0016362 "OMIM:616415" +MONDO:0016362 "ICD10CM:D12.6" MONDO:0016362 "OMIM:175100" MONDO:0030987 "OMIM:619227" MONDO:0003056 "EFO:1000342" @@ -781,7 +758,6 @@ MONDO:0002943 "DOID:4287" MONDO:0002255 "UMLS:C0020561" MONDO:0002255 "DOID:2251" MONDO:0002255 "ICD9:622.6" -MONDO:0002255 "ICD10:N88.4" MONDO:0002255 "SCTID:198353000" MONDO:0006432 "EFO:1000551" MONDO:0006432 "DOID:5191" @@ -801,36 +777,33 @@ MONDO:0013419 "MESH:C565170" MONDO:0013419 "UMLS:C3151078" MONDO:0013419 "Orphanet:169147" MONDO:0013419 "OMIM:613783" +MONDO:0005631 "ICD10CM:A42.8" +MONDO:0005631 "ICD10CM:A42.2" MONDO:0005631 "DOID:8478" MONDO:0005631 "MESH:D000196" MONDO:0005631 "SCTID:11817007" -MONDO:0005631 "ICD10:A42" MONDO:0005631 "NCIT:C34350" -MONDO:0005631 "ICD10:A42.9" -MONDO:0005631 "ICD10:A42.0" -MONDO:0005631 "ICD10:A42.7" MONDO:0005631 "EFO:0007128" -MONDO:0005631 "ICD10:A42.1" +MONDO:0005631 "ICD10CM:A42.1" +MONDO:0005631 "ICD10CM:A42.0" +MONDO:0005631 "ICD10CM:A42.7" MONDO:0005631 "GARD:0005728" MONDO:0005631 "UMLS:C0001261" -MONDO:0005631 "ICD10:A42.8" MONDO:0005631 "ICD9:039.9" -MONDO:0005631 "ICD10:A42.2" MONDO:0005631 "ICD9:039" MONDO:0005631 "Orphanet:457095" MONDO:0008026 "OMIM:158600" MONDO:0008026 "MESH:C563560" +MONDO:0008026 "ICD10CM:G12.1" MONDO:0008026 "Orphanet:363447" -MONDO:0008026 "ICD10:G12.1" MONDO:0008026 "UMLS:C1834690" MONDO:0008026 "Orphanet:209341" MONDO:0011167 "DOID:0110745" MONDO:0011167 "MESH:C566603" MONDO:0011167 "UMLS:C1866041" -MONDO:0011167 "ICD10:E10" MONDO:0011167 "OMIM:601941" +MONDO:0011425 "ICD10CM:I42.0" MONDO:0011425 "DOID:0110429" -MONDO:0011425 "ICD10:I42.0" MONDO:0011425 "UMLS:C1858591" MONDO:0011425 "MESH:C536277" MONDO:0011425 "OMIM:604288" @@ -847,8 +820,8 @@ MONDO:0000473 "ICD9:447.9" MONDO:0017094 "MESH:D054220" MONDO:0017094 "NCIT:C42088" MONDO:0017094 "SCTID:253153000" +MONDO:0017094 "ICD10CM:Q04.8" MONDO:0017094 "Orphanet:268950" -MONDO:0017094 "ICD10:Q04.8" MONDO:0005959 "UMLS:C0037050" MONDO:0005959 "MESH:D018877" MONDO:0005959 "SCTID:19076009" @@ -857,7 +830,6 @@ MONDO:0005959 "EFO:0007484" MONDO:0015782 "UMLS:CN200364" MONDO:0015782 "Orphanet:1779" MONDO:0009058 "NCIT:C129070" -MONDO:0009058 "ICD10:E72.1" MONDO:0009058 "SCTID:13003007" MONDO:0009058 "UMLS:C3495552" MONDO:0009058 "UMLS:C0268616" @@ -866,6 +838,7 @@ MONDO:0009058 "OMIM:219500" MONDO:0009058 "HP:0003153" MONDO:0009058 "DOID:0090142" MONDO:0009058 "Orphanet:212" +MONDO:0009058 "ICD10CM:E72.1" MONDO:0009058 "GARD:2428" MONDO:0009058 "GARD:0002428" NCBITaxon:32519 "GC_ID:1" @@ -875,7 +848,7 @@ MONDO:0005161 "NCIT:C27851" MONDO:0005161 "ICD9:079.4" MONDO:0005161 "SCTID:240532009" MONDO:0017009 "Orphanet:263775" -MONDO:0017009 "ICD10:Q99.8" +MONDO:0017009 "ICD10CM:Q99.8" MONDO:0017009 "GARD:0012421" MONDO:0004872 "ICD9:455" MONDO:0004872 "MESH:D006484" @@ -884,12 +857,11 @@ MONDO:0004872 "ICD9:455.8" MONDO:0004872 "SCTID:70153002" MONDO:0004872 "UMLS:C0019112" MONDO:0004872 "DOID:9746" -MONDO:0004872 "ICD10:K64" NCBITaxon:29960 "GC_ID:1" -MONDO:0010155 "ICD10:E75.5" MONDO:0010155 "Orphanet:98907" MONDO:0010155 "GARD:0003979" MONDO:0010155 "OMIM:275630" +MONDO:0010155 "ICD10CM:E75.5" MONDO:0010155 "SCTID:19604005" MONDO:0020220 "Orphanet:98636" MONDO:0006901 "SCTID:126865007" @@ -905,16 +877,15 @@ MONDO:0002652 "SCTID:423607006" MONDO:0002652 "NCIT:C5600" MONDO:0002652 "DOID:3447" MONDO:0002652 "UMLS:C1332257" -MONDO:0044207 "UMLS:C0398593" -MONDO:0044207 "OMIM:245480" -MONDO:0044207 "Orphanet:169142" MONDO:0011606 "MESH:C565282" MONDO:0011606 "GARD:0009289" MONDO:0011606 "OMIM:605838" MONDO:0011606 "MESH:C537794" MONDO:0011606 "UMLS:C1853911" +MONDO:0044207 "UMLS:C0398593" +MONDO:0044207 "OMIM:245480" +MONDO:0044207 "Orphanet:169142" MONDO:0022650 "GARD:0001103" -MONDO:0013940 "ICD10:Q34.8" MONDO:0013940 "OMIM:614874" MONDO:0013940 "UMLS:C3543825" MONDO:0013940 "DOID:0110604" @@ -924,8 +895,6 @@ MONDO:0020326 "NCIT:C3721" MONDO:0020326 "MESH:D017731" MONDO:0020326 "SCTID:31047003" MONDO:0020326 "ICD9:447.8" -MONDO:0020326 "ICD10:C86.6" -MONDO:0020326 "ICD10:L41.2" MONDO:0020326 "MedDRA:10056670" MONDO:0020326 "UMLS:C0206182" MONDO:0020326 "GARD:0006944" @@ -936,7 +905,7 @@ MONDO:0009373 "MESH:C565502" MONDO:0009373 "OMIM:236900" MONDO:0009373 "Orphanet:79156" MONDO:0009373 "UMLS:C1855986" -MONDO:0009373 "ICD10:E72.3" +MONDO:0009373 "ICD10CM:E72.3" MONDO:0021300 "NCIT:C6241" MONDO:0021300 "SCTID:423318000" MONDO:0021300 "UMLS:C1335139" @@ -947,21 +916,21 @@ MONDO:0011596 "MESH:C565293" MONDO:0060507 "UMLS:C4479651" MONDO:0060507 "OMIM:617547" HP:0008609 "UMLS:C1857456" -MONDO:0010847 "ICD10:G11.2" MONDO:0010847 "OMIM:600223" MONDO:0010847 "SCTID:715755008" MONDO:0010847 "GARD:0009970" +MONDO:0010847 "ICD10CM:G11.2" MONDO:0010847 "Orphanet:98765" MONDO:0010847 "DOID:0050957" MONDO:0010847 "UMLS:C0752122" MONDO:0013294 "UMLS:C3150763" MONDO:0013294 "DOID:0110104" MONDO:0013294 "OMIM:613518" +HP:0003473 "UMLS:C0947912" MONDO:0013470 "OMIM:613863" MONDO:0013470 "MESH:C567827" MONDO:0013470 "Orphanet:36387" MONDO:0013470 "DOID:0111295" -HP:0003473 "UMLS:C0947912" MONDO:0041095 "UMLS:C0395818" MONDO:0041095 "SCTID:232230009" MONDO:0023232 "SCTID:60812006" @@ -975,7 +944,6 @@ MONDO:0015195 "HP:0000068" MONDO:0015195 "Orphanet:105" MONDO:0015195 "MedDRA:10064895" MONDO:0015195 "SCTID:253902002" -MONDO:0015195 "ICD10:Q64.3" MONDO:0021944 "UMLS:C2732267" MONDO:0021944 "OMIMPS:609129" MONDO:0021944 "SCTID:443805006" @@ -984,8 +952,8 @@ MONDO:0021944 "UMLS:C1852271" MONDO:0021944 "MESH:C538268" MONDO:0021944 "NCIT:C116364" MONDO:0021944 "GARD:0009274" +MONDO:0021521 "ICD10CM:D15.2" MONDO:0021521 "UMLS:C0153956" -MONDO:0021521 "ICD10:D15.2" MONDO:0021521 "NCIT:C3604" MONDO:0021521 "ICD9:212.5" MONDO:0021521 "SCTID:92214000" @@ -1001,7 +969,7 @@ MONDO:0024673 "NCIT:C27509" MONDO:0009176 "OMIM:305350" MONDO:0009176 "ICD9:078.19" MONDO:0009176 "OMIM:226400" -MONDO:0009176 "ICD10:B07" +MONDO:0009176 "ICD10CM:B07" MONDO:0009176 "SCTID:19138001" MONDO:0009176 "NCIT:C126877" MONDO:0009176 "OMIMPS:226400" @@ -1018,10 +986,10 @@ MONDO:0014357 "DOID:0070054" MONDO:0000764 "DOID:0060441" MONDO:0001710 "ICD9:576.3" MONDO:0001710 "UMLS:C0156218" -MONDO:0001710 "ICD10:K83.2" MONDO:0001710 "DOID:13409" MONDO:0001710 "SCTID:37439003" MONDO:0001710 "NCIT:C78528" +MONDO:0001710 "ICD10CM:K83.2" NCBITaxon:6296 "GC_ID:1" MONDO:0015585 "Orphanet:163708" MONDO:0015214 "Orphanet:108973" @@ -1031,44 +999,44 @@ MONDO:0022103 "ICD9:601.1" MONDO:0022103 "NCIT:C26930" MONDO:0022103 "SCTID:19905009" NCBITaxon:147573 "GC_ID:1" +MONDO:0011017 "ICD10CM:Q87.8" MONDO:0011017 "Orphanet:34217" MONDO:0011017 "MESH:C538346" -MONDO:0011017 "ICD10:Q87.8" MONDO:0011017 "DOID:0080551" MONDO:0011017 "UMLS:C1832600" MONDO:0011017 "OMIM:601214" MONDO:0011017 "GARD:0009795" MONDO:0011017 "SCTID:715535009" MONDO:0032832 "OMIM:618608" +MONDO:0015422 "ICD10CM:Q87.0" MONDO:0015422 "Orphanet:141330" MONDO:0015422 "UMLS:C2932680" MONDO:0015422 "SCTID:763835004" MONDO:0015422 "GARD:0010694" MONDO:0015422 "MESH:C548035" -MONDO:0015422 "ICD10:Q87.0" MONDO:0019164 "Orphanet:75857" MONDO:0019164 "UMLS:C4304514" MONDO:0019164 "UMLS:CN205719" +MONDO:0019164 "ICD10CM:Q93.5" MONDO:0019164 "SCTID:719666002" -MONDO:0019164 "ICD10:Q93.5" MONDO:0043209 "NCIT:C84543" MONDO:0043209 "SCTID:15890002" +MONDO:0043209 "ICD10CM:E70.3" MONDO:0043209 "GARD:0005768" MONDO:0043209 "UMLS:C0001916" MONDO:0043209 "MESH:D000417" -MONDO:0043209 "ICD10:E70.3" -MONDO:0007249 "ICD10:Q74.8" MONDO:0007249 "OMIM:114150" MONDO:0007249 "Orphanet:1319" MONDO:0007249 "GARD:0001062" MONDO:0007249 "MESH:C537967" MONDO:0007249 "SCTID:733045005" +MONDO:0007249 "ICD10CM:Q74.8" MONDO:0018816 "UMLS:C4479344" MONDO:0018816 "Orphanet:480556" MONDO:0018816 "OMIM:617394" MONDO:0016655 "UMLS:CN201884" -MONDO:0016655 "ICD10:Q93.5" MONDO:0016655 "UMLS:C4304528" +MONDO:0016655 "ICD10CM:Q93.5" MONDO:0016655 "Orphanet:251046" MONDO:0016655 "SCTID:719662000" MONDO:0011427 "OMIM:604291" @@ -1077,8 +1045,8 @@ MONDO:0006034 "ONCOTREE:STAS" MONDO:0006034 "EFO:1000029" MONDO:0006034 "NCIT:C5474" MONDO:0006034 "DOID:5635" +MONDO:0017601 "ICD10CM:C83.3" MONDO:0017601 "Orphanet:300888" -MONDO:0017601 "ICD10:C83.3" MONDO:0014288 "DOID:0110990" MONDO:0014288 "Orphanet:475" MONDO:0014288 "UMLS:C3810212" @@ -1102,19 +1070,20 @@ MONDO:0003917 "DOID:6547" MONDO:0003917 "UMLS:C1332850" MONDO:0019543 "Orphanet:90065" MONDO:0019543 "UMLS:CN206370" -MONDO:0019543 "ICD10:I60.9" +MONDO:0019543 "ICD10CM:I60.9" MONDO:0023011 "GARD:0010495" MONDO:0023011 "UMLS:C0270171" MONDO:0023011 "SCTID:51577008" MONDO:0018346 "Orphanet:397922" +MONDO:0018346 "ICD10CM:G23.0" MONDO:0018346 "UMLS:CN226080" -MONDO:0018346 "ICD10:G23.0" MONDO:0008140 "MESH:C563488" MONDO:0008140 "UMLS:C1833791" MONDO:0008140 "OMIM:165670" MONDO:0004076 "UMLS:C1336703" MONDO:0004076 "NCIT:C6499" MONDO:0004076 "DOID:7016" +MONDO:0009223 "ICD10CM:Q56.1" MONDO:0009223 "OMIM:228300" MONDO:0009223 "MESH:C537919" MONDO:0009223 "DOID:0090091" @@ -1122,13 +1091,11 @@ MONDO:0009223 "ICD9:253.4" MONDO:0009223 "SCTID:8829008" MONDO:0009223 "UMLS:C0271582" MONDO:0009223 "Orphanet:325448" -MONDO:0009223 "ICD10:Q56.1" MONDO:0009223 "GARD:0010127" MONDO:0010320 "UMLS:C1419610" MONDO:0010320 "DOID:0110412" MONDO:0010320 "Orphanet:791" MONDO:0010320 "OMIM:300424" -MONDO:0010320 "ICD10:H35.5" MONDO:0010320 "GARD:0010391" MONDO:0002513 "EFO:1000111" MONDO:0002513 "DOID:3116" @@ -1138,7 +1105,7 @@ MONDO:0002513 "ICD9:223.0" MONDO:0019426 "Orphanet:85330" MONDO:0019426 "GARD:0012489" MONDO:0019426 "UMLS:CN206182" -MONDO:0019426 "ICD10:Q87.8" +MONDO:0019426 "ICD10CM:Q87.8" MONDO:0044320 "Orphanet:791" MONDO:0044320 "OMIM:617460" MONDO:0044320 "UMLS:C4479526" @@ -1156,9 +1123,9 @@ MONDO:0003391 "UMLS:C1520069" CL:0000502 "FMA:62935" MONDO:0007678 "OMIM:138710" NCBITaxon:291484 "GC_ID:1" -MONDO:0009581 "ICD10:Q87.8" MONDO:0009581 "MESH:C537447" MONDO:0009581 "GARD:0009811" +MONDO:0009581 "ICD10CM:Q87.8" MONDO:0009581 "UMLS:C1855303" MONDO:0009581 "Orphanet:3044" MONDO:0009581 "OMIM:249599" @@ -1180,7 +1147,6 @@ MONDO:0008854 "UMLS:C3714980" MONDO:0008854 "UMLS:C2936862" MONDO:0008854 "UMLS:C1859564" MONDO:0008854 "OMIM:209900" -MONDO:0008854 "ICD10:Q87.89" MONDO:0008854 "UMLS:C3806174" MONDO:0008854 "UMLS:C2673874" MONDO:0008854 "UMLS:C1859569" @@ -1191,15 +1157,13 @@ MONDO:0011761 "UMLS:C1846922" MONDO:0011761 "OMIM:607017" MONDO:0011761 "DOID:0110551" MONDO:0011761 "MESH:C564634" -MONDO:0011761 "ICD10:H90.3" MONDO:0020064 "GARD:0004597" MONDO:0020064 "SCTID:6996004" -MONDO:0020064 "ICD10:Q22.2" MONDO:0020064 "Orphanet:982" +MONDO:0020064 "ICD10CM:Q22.2" MONDO:0032598 "OMIM:618201" MONDO:0001242 "NCIT:C111856" MONDO:0001242 "DOID:11246" -MONDO:0001242 "ICD10:P60" MONDO:0001242 "UMLS:C0158992" MONDO:0001242 "ICD9:776.2" MONDO:0001242 "SCTID:34417008" @@ -1213,7 +1177,7 @@ MONDO:0012178 "UMLS:C1836915" MONDO:0012178 "MESH:C563810" MONDO:0012178 "OMIM:609037" MONDO:0019647 "Orphanet:93177" -MONDO:0019647 "ICD10:Q63.8" +MONDO:0019647 "ICD10CM:Q63.8" MONDO:0012007 "UMLS:C1842315" MONDO:0012007 "OMIM:608281" MONDO:0012007 "MESH:C564262" @@ -1221,12 +1185,12 @@ NCBITaxon:55194 "GC_ID:1" MONDO:0011291 "NCIT:C126869" MONDO:0011291 "GARD:0009829" MONDO:0011291 "SCTID:709412006" -MONDO:0011291 "ICD10:E77.8" MONDO:0011291 "UMLS:C2930997" MONDO:0011291 "MESH:C535741" MONDO:0011291 "OMIM:603147" MONDO:0011291 "Orphanet:79320" MONDO:0011291 "DOID:0080555" +MONDO:0011291 "ICD10CM:E77.8" MONDO:0003000 "UMLS:C1332880" MONDO:0003000 "NCIT:C5461" MONDO:0003000 "DOID:4439" @@ -1244,7 +1208,7 @@ MONDO:0010490 "Orphanet:370927" MONDO:0010490 "GARD:0012405" MONDO:0010490 "SCTID:733115009" MONDO:0010490 "OMIM:300934" -MONDO:0010490 "ICD10:E77.8" +MONDO:0010490 "ICD10CM:E77.8" MONDO:0010490 "DOID:0070257" MONDO:0002683 "UMLS:C0796430" MONDO:0002683 "DOID:3542" @@ -1257,37 +1221,36 @@ MONDO:0009917 "Orphanet:171876" MONDO:0009917 "OMIM:264350" MONDO:0009917 "DOID:0060854" MONDO:0009917 "UMLS:C0268436" -MONDO:0009917 "ICD10:N25.8" +MONDO:0009917 "ICD10CM:N25.8" MONDO:0009917 "MESH:D011546" MONDO:0016458 "SCTID:719684000" -MONDO:0016458 "ICD10:Q92.3" MONDO:0016458 "UMLS:C4304504" MONDO:0016458 "Orphanet:228399" MONDO:0016458 "GARD:0012816" MONDO:0016458 "UMLS:CN201422" MONDO:0017909 "OMIM:231900" -MONDO:0017909 "SCTID:234589002" MONDO:0017909 "MESH:C536835" +MONDO:0017909 "SCTID:234589002" +MONDO:0017909 "ICD10CM:D55.1" MONDO:0017909 "Orphanet:32" MONDO:0017909 "GARD:0010047" MONDO:0017909 "OMIM:266130" MONDO:0017909 "NCIT:C128193" MONDO:0017909 "UMLS:C0398746" -MONDO:0017909 "ICD10:D55.1" MONDO:0019834 "Orphanet:95505" MONDO:0014522 "Orphanet:791" MONDO:0014522 "UMLS:C4015424" MONDO:0014522 "OMIM:616188" MONDO:0030062 "OMIM:618920" MONDO:0017179 "Orphanet:276402" +MONDO:0017179 "ICD10CM:G13.1" MONDO:0017179 "SCTID:763793004" -MONDO:0017179 "ICD10:G13.1" MONDO:0021326 "NCIT:C4763" MONDO:0021326 "ICD9:150.0" MONDO:0021326 "UMLS:C0496773" MONDO:0021326 "SCTID:187722004" -MONDO:0032834 "OMIM:618613" NCBITaxon:5579 "GC_ID:1" +MONDO:0032834 "OMIM:618613" MONDO:0009002 "OMIM:216820" MONDO:0009002 "Orphanet:194" MONDO:0009002 "UMLS:C4011974" @@ -1298,8 +1261,8 @@ MONDO:0000569 "SCTID:237822008" MONDO:0000569 "ICD9:279.49" MONDO:0000569 "UMLS:C0342552" MONDO:0020754 "OMIM:155310" -MONDO:0016167 "ICD10:D33.3" MONDO:0016167 "UMLS:C0796418" +MONDO:0016167 "ICD10CM:D33.3" MONDO:0016167 "GARD:0004107" MONDO:0016167 "NCIT:C8567" MONDO:0016167 "Orphanet:2086" @@ -1309,59 +1272,52 @@ MONDO:0012751 "MESH:C567501" MONDO:0012751 "Orphanet:86" MONDO:0012751 "OMIM:611891" MONDO:0012751 "UMLS:C2678470" -MONDO:0000979 "ICD10:A67.0" -MONDO:0000979 "ICD9:103.2" -MONDO:0000979 "ICD10:A67.3" -MONDO:0000979 "SCTID:22064009" -MONDO:0000979 "ICD10:A67.2" -MONDO:0000979 "ICD9:103.9" -MONDO:0000979 "ICD10:A67" -MONDO:0000979 "EFO:1001396" -MONDO:0000979 "ICD9:103.1" -MONDO:0000979 "UMLS:C0031946" -MONDO:0000979 "DOID:1022" -MONDO:0000979 "ICD10:A67.9" -MONDO:0000979 "ICD10:A67.1" +MONDO:0000979 "NCIT:C85011" MONDO:0000979 "ICD9:103.3" MONDO:0000979 "ICD9:103" +MONDO:0000979 "ICD9:103.9" MONDO:0000979 "GARD:0007397" +MONDO:0000979 "ICD9:103.2" +MONDO:0000979 "ICD9:103.1" MONDO:0000979 "ICD9:103.0" +MONDO:0000979 "UMLS:C0031946" +MONDO:0000979 "SCTID:22064009" +MONDO:0000979 "EFO:1001396" MONDO:0000979 "MESH:D010874" -MONDO:0000979 "NCIT:C85011" +MONDO:0000979 "DOID:1022" HP:0010551 "UMLS:C4023792" MONDO:0100325 "Orphanet:166272" MONDO:0100325 "OMIM:184260" MONDO:0100325 "GARD:0008717" MONDO:0100325 "UMLS:CN200045" -MONDO:0100325 "ICD10:Q78.8" MONDO:0100325 "SCTID:717823001" +MONDO:0100325 "ICD10CM:Q78.8" MONDO:0008446 "OMIM:182882" NCBITaxon:30727 "GC_ID:1" MONDO:0018511 "UMLS:CN237516" MONDO:0018511 "Orphanet:423982" MONDO:0013472 "OMIM:613869" +MONDO:0013472 "ICD10CM:G71.2" MONDO:0013472 "Orphanet:280553" -MONDO:0013472 "ICD10:G71.2" MONDO:0013472 "DOID:0080309" MONDO:0013472 "UMLS:C3151236" MONDO:0017406 "UMLS:CN203156" MONDO:0017406 "Orphanet:293967" MONDO:0019836 "Orphanet:95507" -MONDO:0019836 "ICD10:Q26.8" +MONDO:0019836 "ICD10CM:Q26.8" MONDO:0011480 "OMIM:604717" -MONDO:0011480 "ICD10:H90.3" MONDO:0011480 "UMLS:C1858172" MONDO:0011480 "DOID:0110550" MONDO:0011480 "MESH:C565754" MONDO:0011480 "Orphanet:90635" NCBITaxon:4892 "GC_ID:1" MONDO:0018639 "Orphanet:444941" -MONDO:0013680 "OMIM:614306" -MONDO:0013680 "UMLS:C3280415" MONDO:0012122 "Orphanet:2573" MONDO:0012122 "OMIM:608796" MONDO:0012122 "MESH:C536993" MONDO:0012122 "UMLS:C1837418" +MONDO:0013680 "OMIM:614306" +MONDO:0013680 "UMLS:C3280415" NCBITaxon:6181 "GC_ID:1" MONDO:0008018 "NCIT:C84905" MONDO:0008018 "OMIM:158320" @@ -1371,24 +1327,23 @@ MONDO:0008018 "MESH:D055653" MONDO:0008018 "GARD:0006821" MONDO:0008018 "MedDRA:10063042" MONDO:0008018 "SCTID:403824007" +MONDO:0008018 "ICD10CM:L72.8" MONDO:0008018 "Orphanet:587" -MONDO:0008018 "ICD10:L72.8" MONDO:0006706 "UMLS:C1136339" MONDO:0006706 "MESH:D039941" MONDO:0006706 "EFO:1000873" MONDO:0009887 "Orphanet:98852" MONDO:0009887 "DOID:0050158" -MONDO:0009887 "ICD10:J84.1" MONDO:0009887 "ICD9:516.37" MONDO:0009887 "SCTID:8549006" -MONDO:0009887 "ICD10:J84.115" -MONDO:0009887 "ICD10:J84.117" +MONDO:0009887 "ICD10CM:J84.1" MONDO:0009887 "ICD9:516.34" MONDO:0009887 "NCIT:C35288" MONDO:0009887 "OMIM:263000" MONDO:0009887 "MESH:C562470" MONDO:0009887 "UMLS:C0238378" MONDO:0008633 "MedDRA:10064569" +MONDO:0008633 "ICD10CM:E85.0" MONDO:0008633 "SCTID:402417009" MONDO:0008633 "UMLS:C0268390" MONDO:0008633 "UMLS:C1304205" @@ -1396,40 +1351,39 @@ MONDO:0008633 "NCIT:C119054" MONDO:0008633 "GARD:0008472" MONDO:0008633 "Orphanet:575" MONDO:0008633 "OMIM:191900" -MONDO:0008633 "ICD10:E85.0" MONDO:0008633 "DOID:0050854" MONDO:0008633 "ICD9:708.8" MONDO:0005990 "UMLS:C0264322" MONDO:0005990 "ICD9:464.1" -MONDO:0005990 "ICD10:J04.1" MONDO:0005990 "EFO:0007518" MONDO:0005990 "MESH:D014136" MONDO:0005990 "UMLS:C0149513" MONDO:0005990 "NCIT:C78643" +MONDO:0005990 "ICD10CM:J04.1" MONDO:0005990 "UMLS:C0040584" MONDO:0005990 "SCTID:62994001" MONDO:0005990 "DOID:9392" MONDO:0016647 "Orphanet:250984" MONDO:0016647 "OMIM:614134" -MONDO:0016647 "ICD10:Q87.5" +MONDO:0016647 "ICD10CM:Q87.5" MONDO:0016647 "UMLS:CN201875" MONDO:0016647 "OMIM:614284" MONDO:0014301 "Orphanet:79145" MONDO:0014301 "UMLS:C3810286" MONDO:0014301 "OMIM:615674" -MONDO:0015624 "ICD10:E16.1" MONDO:0015624 "Orphanet:165985" +MONDO:0015624 "ICD10CM:E16.1" MONDO:0018847 "Orphanet:490" +MONDO:0018847 "ICD10CM:Q43.0" MONDO:0018847 "SCTID:80880002" MONDO:0018847 "GARD:0004081" -MONDO:0018847 "ICD10:Q43.0" MONDO:0003688 "ICDO:9052/1" MONDO:0003688 "UMLS:C1337012" MONDO:0003688 "NCIT:C7635" MONDO:0003688 "DOID:5884" MONDO:0010164 "MESH:C535612" +MONDO:0010164 "ICD10CM:Q87.2" MONDO:0010164 "GARD:0005124" -MONDO:0010164 "ICD10:Q87.2" MONDO:0010164 "OMIM:276820" MONDO:0010164 "Orphanet:2879" MONDO:0010164 "GARD:0009212" @@ -1451,13 +1405,13 @@ MONDO:0012343 "UMLS:C1853364" MONDO:0015507 "Orphanet:156601" MONDO:0015507 "UMLS:CN199640" MONDO:0017290 "Orphanet:284385" +MONDO:0017290 "ICD10CM:K83.1" MONDO:0017290 "UMLS:CN227107" MONDO:0017290 "SCTID:74162007" MONDO:0017290 "UMLS:CN239338" -MONDO:0017290 "ICD10:K83.1" MONDO:0017290 "ICD9:576.8" MONDO:0001559 "ICD9:618.05" -MONDO:0001559 "ICD10:N81.81" +MONDO:0001559 "ICD10CM:N81.81" MONDO:0001559 "DOID:12637" MONDO:0003759 "UMLS:C1332993" MONDO:0003759 "DOID:6083" @@ -1489,10 +1443,10 @@ MONDO:0013745 "Orphanet:220493" MONDO:0012530 "MESH:C567165" MONDO:0012530 "OMIM:610644" MONDO:0012530 "Orphanet:85112" -MONDO:0012530 "ICD10:Q56.0" -MONDO:0018692 "ICD10:A81.8" +MONDO:0012530 "ICD10CM:Q56.0" MONDO:0018692 "SCTID:721165001" MONDO:0018692 "Orphanet:454742" +MONDO:0018692 "ICD10CM:A81.8" MONDO:0018692 "UMLS:C4303527" MONDO:0016111 "Orphanet:206659" MONDO:0024478 "UMLS:C0334090" @@ -1514,28 +1468,28 @@ MONDO:0013099 "SCTID:718182008" MONDO:0013099 "OMIMPS:613038" MONDO:0013099 "GARD:0010602" MONDO:0013099 "OMIM:182230" -MONDO:0013099 "ICD10:E23.0" MONDO:0013099 "OMIM:613038" MONDO:0013099 "GARD:0002252" MONDO:0013099 "OMIM:262600" MONDO:0013099 "OMIM:613986" MONDO:0013099 "Orphanet:95494" +MONDO:0013099 "ICD10CM:E23.0" MONDO:0013099 "UMLS:C2751608" MONDO:0020756 "GARD:0002638" MONDO:0020756 "OMIM:141500" MONDO:0020756 "DOID:0111181" -MONDO:0010572 "GARD:0004017" -MONDO:0010572 "SCTID:59399004" -MONDO:0010572 "MESH:C537860" MONDO:0010572 "DOID:0111272" -MONDO:0010572 "ICD10:E83.0" MONDO:0010572 "OMIM:304150" +MONDO:0010572 "ICD10CM:E83.0" MONDO:0010572 "Orphanet:198" +MONDO:0010572 "SCTID:59399004" +MONDO:0010572 "GARD:0004017" +MONDO:0010572 "MESH:C537860" MONDO:0022769 "GARD:0001362" MONDO:0033532 "OMIM:618950" +MONDO:0019639 "ICD10CM:Q63.8" MONDO:0019639 "Orphanet:93109" MONDO:0019639 "ICD9:753.3" -MONDO:0019639 "ICD10:Q63.8" MONDO:0019639 "SCTID:85901000" MONDO:0002046 "ICD9:305.0" MONDO:0002046 "SCTID:15167005" @@ -1544,10 +1498,9 @@ MONDO:0002046 "MESH:D019973" MONDO:0002046 "ICD9:305.00" MONDO:0002046 "NCIT:C20701" MONDO:0002046 "MESH:D000437" -MONDO:0002046 "ICD10:F10.1" +MONDO:0024665 "ICD10CM:Q56" MONDO:0024665 "SCTID:268229003" MONDO:0024665 "ICD9:752.7" -MONDO:0024665 "ICD10:Q56" MONDO:0013112 "MESH:C567772" MONDO:0013112 "UMLS:C2751324" MONDO:0013112 "OMIM:613071" @@ -1556,8 +1509,8 @@ MONDO:0013112 "Orphanet:60033" MONDO:0011800 "Orphanet:182067" MONDO:0011800 "OMIM:607248" MONDO:0011800 "UMLS:C2750944" -MONDO:0016332 "ICD10:I42.2" MONDO:0016332 "UMLS:CN226904" +MONDO:0016332 "ICD10CM:I42.2" MONDO:0016332 "Orphanet:217601" MONDO:0007360 "UMLS:C1852718" MONDO:0007360 "OMIM:120502" @@ -1569,7 +1522,6 @@ MONDO:0009319 "SCTID:2992000" MONDO:0009319 "NCIT:C84988" MONDO:0009319 "MESH:D006211" MONDO:0009319 "ICD9:333.0" -MONDO:0009319 "ICD10:G23.0" MONDO:0009319 "DOID:3981" MONDO:0009319 "Orphanet:157850" MONDO:0009319 "GARD:0006564" @@ -1584,7 +1536,6 @@ MONDO:0007622 "UMLS:C1851056" MONDO:0007622 "MESH:C565009" MONDO:0011974 "UMLS:C1842475" MONDO:0011974 "Orphanet:791" -MONDO:0011974 "ICD10:H35.5" MONDO:0011974 "DOID:0110383" MONDO:0011974 "OMIM:608133" MONDO:0011974 "GARD:0010386" @@ -1611,9 +1562,9 @@ MONDO:0004020 "DOID:6867" MONDO:0017773 "MESH:D052456" MONDO:0017773 "UMLS:C0473527" MONDO:0017773 "Orphanet:31153" +MONDO:0017773 "ICD10CM:E78.6" MONDO:0017773 "SCTID:190785000" MONDO:0017773 "NCIT:C84774" -MONDO:0017773 "ICD10:E78.6" MONDO:0017773 "MedDRA:10065156" MONDO:0008307 "UMLS:C1867772" MONDO:0008307 "GARD:0010032" @@ -1625,36 +1576,36 @@ MONDO:0006863 "ICDO:8840/3" MONDO:0006863 "MESH:D009236" MONDO:0006863 "UMLS:C0027155" MONDO:0006863 "DOID:4136" -MONDO:0018284 "ICD10:E77.8" +MONDO:0018284 "ICD10CM:E77.8" MONDO:0018284 "Orphanet:371047" MONDO:0020559 "UMLS:C2721741" MONDO:0020559 "MedDRA:10069682" -MONDO:0020559 "ICD10:G12.8" MONDO:0020559 "Orphanet:99965" +MONDO:0020559 "ICD10CM:G12.8" MONDO:0000805 "DOID:0060530" MONDO:0006708 "MESH:D045824" MONDO:0006708 "EFO:1000875" +MONDO:0015781 "ICD10CM:Q87.8" MONDO:0015781 "MESH:C537529" -MONDO:0015781 "ICD10:Q87.8" MONDO:0015781 "GARD:0004778" MONDO:0015781 "Orphanet:1778" MONDO:0015781 "UMLS:C2931522" MONDO:0015781 "SCTID:716337006" -MONDO:0001338 "ICD10:K04.4" MONDO:0001338 "SCTID:718053009" MONDO:0001338 "UMLS:C4084770" MONDO:0001338 "DOID:11693" MONDO:0001338 "ICD9:522.4" +MONDO:0001338 "ICD10CM:K04.4" MONDO:0009028 "SCTID:715991005" MONDO:0009028 "UMLS:C1857532" MONDO:0009028 "Orphanet:1512" MONDO:0009028 "OMIM:218090" +MONDO:0009028 "ICD10CM:Q87.5" MONDO:0009028 "MESH:C536452" -MONDO:0009028 "ICD10:Q87.5" MONDO:0009028 "GARD:0008428" NCBITaxon:2732397 "GC_ID:1" MONDO:0014735 "DOID:0110168" -MONDO:0014735 "ICD10:G60.0" +MONDO:0014735 "ICD10CM:G60.0" MONDO:0014735 "Orphanet:435387" MONDO:0014735 "UMLS:C4225244" MONDO:0014735 "OMIM:616687" @@ -1662,13 +1613,13 @@ MONDO:0021496 "ICD9:210.0" MONDO:0021496 "SCTID:92185002" MONDO:0021496 "UMLS:C0153932" MONDO:0021496 "NCIT:C3591" -MONDO:0021496 "ICD10:D10.0" +MONDO:0021496 "ICD10CM:D10.0" MONDO:0018355 "Orphanet:398079" +MONDO:0018355 "ICD10CM:Q87.1" MONDO:0018355 "UMLS:CN226095" -MONDO:0018355 "ICD10:Q87.1" MONDO:0017101 "OMIM:607341" +MONDO:0017101 "ICD10CM:Q04.8" MONDO:0017101 "Orphanet:269001" -MONDO:0017101 "ICD10:Q04.8" MONDO:0012838 "UMLS:C2677093" MONDO:0012838 "DOID:0110896" MONDO:0012838 "MESH:C567380" @@ -1697,12 +1648,12 @@ MONDO:0008477 "MESH:C535797" MONDO:0008477 "Orphanet:93314" MONDO:0008477 "DOID:0111554" MONDO:0008477 "OMIM:184252" -MONDO:0008477 "ICD10:Q77.8" +MONDO:0008477 "ICD10CM:Q77.8" HP:0001941 "MSH:D000138" HP:0001941 "UMLS:C0001122" HP:0001941 "SNOMEDCT_US:51387008" -MONDO:0004937 "ICD10:E67.3" MONDO:0004937 "UMLS:C1442839" +MONDO:0004937 "ICD10CM:E67.3" MONDO:0004937 "DOID:9971" MONDO:0004937 "ICD9:278.4" MONDO:0004937 "SCTID:27712000" @@ -1720,11 +1671,10 @@ MONDO:0018542 "OMIMPS:202700" MONDO:0018542 "OMIM:612541" MONDO:0018542 "DOID:0050590" MONDO:0018542 "Orphanet:486" -MONDO:0018542 "ICD10:D70" +MONDO:0018542 "ICD10CM:D70" MONDO:0018542 "OMIM:613107" MONDO:0018542 "ICD9:288.01" MONDO:0014106 "OMIM:615270" -MONDO:0014106 "ICD10:E23.0" MONDO:0014106 "DOID:0090082" MONDO:0014106 "UMLS:C3808983" MONDO:0002451 "UMLS:C1335409" @@ -1732,21 +1682,21 @@ MONDO:0002451 "UMLS:C1332535" MONDO:0002451 "NCIT:C5532" MONDO:0002451 "DOID:2885" MONDO:0002451 "NCIT:C7574" -MONDO:0005968 "DOID:14484" -MONDO:0005968 "EFO:0007494" -MONDO:0005968 "MedDRA:10041736" -MONDO:0005968 "SCTID:42094007" -MONDO:0005968 "UMLS:C0038034" -MONDO:0005968 "Orphanet:826" -MONDO:0005968 "ICD10:B42.8" +MONDO:0005968 "ICD10CM:B42.7" MONDO:0005968 "ICD9:117.1" -MONDO:0005968 "ICD10:B42.9" -MONDO:0005968 "ICD10:B42.0" -MONDO:0005968 "ICD10:B42" -MONDO:0005968 "ICD10:B42.7" -MONDO:0005968 "ICD10:B42.1" MONDO:0005968 "MESH:D013174" +MONDO:0005968 "EFO:0007494" +MONDO:0005968 "Orphanet:826" +MONDO:0005968 "ICD10CM:B42.8" +MONDO:0005968 "ICD10CM:B42" +MONDO:0005968 "ICD10CM:B42.0" +MONDO:0005968 "SCTID:42094007" +MONDO:0005968 "MedDRA:10041736" +MONDO:0005968 "ICD10CM:B42.9" MONDO:0005968 "GARD:0007692" +MONDO:0005968 "DOID:14484" +MONDO:0005968 "UMLS:C0038034" +MONDO:0005968 "ICD10CM:B42.1" MONDO:0004714 "NCIT:C84574" MONDO:0004714 "DOID:913" MONDO:0005170 "UMLS:C2939461" @@ -1758,8 +1708,8 @@ MONDO:0005170 "NCIT:C9290" MONDO:0017322 "UMLS:CN202954" MONDO:0017322 "Orphanet:289098" MONDO:0011096 "Orphanet:229717" +MONDO:0011096 "ICD10CM:D80.0" MONDO:0011096 "OMIM:615214" -MONDO:0011096 "ICD10:D80.0" MONDO:0011096 "OMIM:601495" MONDO:0011096 "Orphanet:33110" MONDO:0011096 "UMLS:C1832241" @@ -1782,10 +1732,10 @@ MONDO:0015026 "UMLS:CN240513" MONDO:0009081 "MESH:C565646" MONDO:0009081 "UMLS:C1857343" MONDO:0009081 "OMIM:220900" -MONDO:0016584 "ICD10:Q87.5" MONDO:0016584 "GARD:0011893" MONDO:0016584 "Orphanet:2457" MONDO:0016584 "UMLS:CN118835" +MONDO:0016584 "ICD10CM:Q87.5" MONDO:0016584 "OMIM:608612" MONDO:0016584 "OMIM:248370" MONDO:0016584 "OMIMPS:248370" @@ -1795,23 +1745,22 @@ MONDO:0012148 "MESH:C563835" MONDO:0012148 "EFO:0009161" NCBITaxon:8048 "GC_ID:1" MONDO:0006572 "SCTID:4776004" -MONDO:0006572 "ICD10:L43" MONDO:0006572 "NCIT:C3189" MONDO:0006572 "DOID:9201" +MONDO:0006572 "ICD10CM:L43" MONDO:0006572 "MESH:D008010" -MONDO:0006572 "ICD10:L43.9" MONDO:0006572 "EFO:1000726" MONDO:0006572 "UMLS:C0023646" MONDO:0006572 "ICD9:697.0" MONDO:0019960 "SCTID:253005002" MONDO:0019960 "GARD:0003787" -MONDO:0019960 "ICD10:E16.8" MONDO:0019960 "GARD:0005493" MONDO:0019960 "UMLS:C0011993" MONDO:0019960 "ICD9:239.7" MONDO:0019960 "MESH:D003969" MONDO:0019960 "EFO:1000622" MONDO:0019960 "NCIT:C26749" +MONDO:0019960 "ICD10CM:E16.8" MONDO:0019960 "ICDO:8155/1" MONDO:0019960 "MedDRA:10047430" MONDO:0019960 "Orphanet:97282" @@ -1824,14 +1773,13 @@ MONDO:0008698 "ICD9:530.0" MONDO:0008698 "UMLS:C1860213" MONDO:0008698 "SCTID:235630008" MONDO:0008698 "NCIT:C84699" -MONDO:0008698 "ICD10:K22.0" MONDO:0008698 "HP:0002571" MONDO:0008698 "OMIM:200400" MONDO:0017205 "Orphanet:279897" MONDO:0018763 "Orphanet:467166" MONDO:0018763 "UMLS:CN242152" MONDO:0014327 "UMLS:C3810394" -MONDO:0014327 "ICD10:Q82.8" +MONDO:0014327 "ICD10CM:Q82.8" MONDO:0014327 "OMIM:615735" MONDO:0014327 "Orphanet:402003" CL:0000056 "CALOHA:TS-0650" @@ -1845,7 +1793,6 @@ MONDO:0011802 "Orphanet:2197" MONDO:0011802 "OMIM:607258" MONDO:0017962 "UMLS:CN227226" MONDO:0017962 "Orphanet:325061" -MONDO:0011389 "ICD10:H90.3" MONDO:0011389 "MESH:C565832" MONDO:0011389 "UMLS:C1858916" MONDO:0011389 "OMIM:603964" @@ -1856,15 +1803,15 @@ MONDO:0009926 "OMIM:265000" MONDO:0009926 "UMLS:CN203342" MONDO:0009926 "GARD:0007111" MONDO:0009926 "SCTID:80773006" -MONDO:0009926 "ICD10:Q79.8" +MONDO:0009926 "ICD10CM:Q79.8" MONDO:0009926 "ICD9:759.89" MONDO:0021084 "NCIT:C35126" MONDO:0021084 "MESH:D014786" MONDO:0021084 "SCTID:95677002" MONDO:0021084 "UMLS:C0042790" +MONDO:0021084 "ICD10CM:H53-H54" MONDO:0013589 "Orphanet:656" MONDO:0013589 "UMLS:C3279905" -MONDO:0013589 "ICD10:N04.1" MONDO:0013589 "OMIM:614131" MONDO:0013589 "DOID:0111131" MONDO:0012335 "Orphanet:71526" @@ -1873,7 +1820,7 @@ MONDO:0012335 "OMIM:609734" MONDO:0012335 "UMLS:C1857854" MONDO:0012335 "OMIM:601665" MONDO:0012335 "GARD:0010823" -MONDO:0012335 "ICD10:E66.8" +MONDO:0012335 "ICD10CM:E66.8" MONDO:0012335 "MESH:C565726" MONDO:0012335 "ICD9:255.5" MONDO:0032639 "DOID:0111637" @@ -1884,11 +1831,10 @@ MONDO:0014514 "UMLS:C4015368" MONDO:0014193 "UMLS:C3809548" MONDO:0014193 "Orphanet:244" MONDO:0014193 "OMIM:615451" -MONDO:0014193 "ICD10:Q34.8" MONDO:0014193 "DOID:0110609" MONDO:0020442 "ICD9:747.49" +MONDO:0020442 "ICD10CM:Q26.1" MONDO:0020442 "Orphanet:99111" -MONDO:0020442 "ICD10:Q26.1" MONDO:0020442 "SCTID:445436005" MONDO:0002000 "DOID:14559" MONDO:0002000 "UMLS:C0854214" @@ -1899,10 +1845,10 @@ MONDO:0004306 "NCIT:C6590" MONDO:0004306 "DOID:7612" NCBITaxon:2572478 "GC_ID:1" MONDO:0013776 "DOID:0050944" -MONDO:0013776 "ICD10:G11.4" MONDO:0013776 "UMLS:C3280977" MONDO:0013776 "OMIM:614487" MONDO:0013776 "Orphanet:313772" +MONDO:0013776 "ICD10CM:G11.4" MONDO:0005517 "EFO:0005577" MONDO:0005517 "DOID:0060119" MONDO:0005517 "NCIT:C3325" @@ -1914,7 +1860,7 @@ MONDO:0003820 "DOID:6231" MONDO:0003820 "ONCOTREE:OMT" MONDO:0009185 "DOID:0111668" MONDO:0009185 "Orphanet:1946" -MONDO:0009185 "ICD10:G40.8" +MONDO:0009185 "ICD10CM:G40.8" MONDO:0009185 "MESH:C537213" MONDO:0009185 "OMIM:226750" MONDO:0009185 "UMLS:C0406740" @@ -1922,9 +1868,9 @@ MONDO:0009185 "SCTID:109478007" MONDO:0009185 "GARD:0003128" MONDO:0012556 "SCTID:718712005" MONDO:0012556 "DOID:0080565" -MONDO:0012556 "ICD10:E77.8" MONDO:0012556 "GARD:0012393" MONDO:0012556 "Orphanet:91131" +MONDO:0012556 "ICD10CM:E77.8" MONDO:0012556 "OMIM:610768" MONDO:0012556 "MESH:C563666" MONDO:0044206 "Orphanet:1427" @@ -1936,8 +1882,8 @@ MONDO:0017199 "SCTID:716189005" MONDO:0023538 "MESH:C536893" MONDO:0023538 "UMLS:C2931361" MONDO:0016176 "Orphanet:209004" -MONDO:0016176 "ICD10:G61.8" -MONDO:0018145 "ICD10:Q14.8" +MONDO:0016176 "ICD10CM:G61.8" +MONDO:0018145 "ICD10CM:Q14.8" MONDO:0018145 "Orphanet:353334" MONDO:0010659 "SCTID:716709002" MONDO:0010659 "UMLS:C0751157" @@ -1949,19 +1895,20 @@ CL:0000138 "FMA:66782" CL:0000138 "CALOHA:TS-0138" MONDO:0016833 "UMLS:CN202163" MONDO:0016833 "SCTID:719574007" +MONDO:0016833 "ICD10CM:Q93.5" MONDO:0016833 "Orphanet:261144" -MONDO:0016833 "ICD10:Q93.5" MONDO:0016833 "UMLS:C4305240" PO:0000019 "PO_GIT:465" MONDO:0011605 "UMLS:C1853919" -MONDO:0011605 "ICD10:Q82.5" MONDO:0011605 "Orphanet:168632" MONDO:0011605 "OMIM:605827" MONDO:0011605 "MESH:C565284" MONDO:0011605 "SCTID:766928004" +MONDO:0011605 "ICD10CM:Q82.5" MONDO:0020325 "SCTID:277637000" MONDO:0020325 "GARD:0003112" -MONDO:0020325 "ICD10:C84.6" +MONDO:0020325 "ICD10CM:C84.6" +MONDO:0020325 "ICD10CM:C84.7" MONDO:0020325 "ONCOTREE:ALCL" MONDO:0020325 "UMLS:C0206180" MONDO:0020325 "NCIT:C3720" @@ -1969,7 +1916,6 @@ MONDO:0020325 "DOID:0050744" MONDO:0020325 "HGNC:427" MONDO:0020325 "ICDO:9714/3" MONDO:0020325 "Orphanet:98841" -MONDO:0020325 "ICD10:C84.7" MONDO:0020325 "ICD9:200.6" MONDO:0020325 "EFO:0003032" MONDO:0020325 "ICD9:200.60" @@ -1977,24 +1923,21 @@ MONDO:0020325 "MESH:D017728" MONDO:0014380 "UMLS:C4014540" MONDO:0014380 "Orphanet:424099" MONDO:0014380 "OMIM:615877" -MONDO:0014380 "ICD10:Q87.5" +MONDO:0014380 "ICD10CM:Q87.5" MONDO:0003441 "MESH:D020821" MONDO:0003441 "HP:0001332" -MONDO:0003441 "ICD10:G24.9" -MONDO:0003441 "ICD10:G24" MONDO:0003441 "NCIT:C34563" MONDO:0003441 "DOID:543" MONDO:0003441 "ICD9:333.90" +MONDO:0003441 "ICD10CM:G24" MONDO:0003441 "SCTID:15802004" MONDO:0001503 "SCTID:2251002" MONDO:0001503 "DOID:12349" -MONDO:0001503 "ICD10:H44.44" MONDO:0001503 "UMLS:C0154782" MONDO:0001503 "ICD9:360.31" MONDO:0004684 "NCIT:C4680" MONDO:0004684 "MESH:C537000" MONDO:0004684 "DOID:8936" -MONDO:0004684 "ICD10:M72.2" MONDO:0004684 "SCTID:13370002" MONDO:0004684 "EFO:1000481" MONDO:0004684 "ICD9:728.71" @@ -2003,8 +1946,8 @@ MONDO:0025013 "MESH:D018419" FOODON:03400306 "http://www.langual.org/langual_thesaurus.asp?termid=A0306" MONDO:0013997 "UMLS:C3554246" MONDO:0013997 "OMIM:614974" -MONDO:0013997 "ICD10:Q82.8" MONDO:0013997 "Orphanet:398189" +MONDO:0013997 "ICD10CM:Q82.8" MONDO:0013997 "Orphanet:398166" MONDO:0017578 "UMLS:CN227150" MONDO:0017578 "Orphanet:298644" @@ -2031,88 +1974,86 @@ MONDO:0003057 "NCIT:C8264" MONDO:0003057 "DOID:4593" MONDO:0006004 "NCIT:C34988" MONDO:0006004 "MESH:D012223" -MONDO:0006004 "ICD10:J30.0" MONDO:0006004 "UMLS:C0035460" MONDO:0006004 "DOID:4730" MONDO:0006004 "SCTID:8229003" MONDO:0006004 "EFO:0007533" +MONDO:0006004 "ICD10CM:J30.0" MONDO:0007562 "Orphanet:166011" +MONDO:0007562 "ICD10CM:Q77.3" MONDO:0007562 "OMIM:132450" MONDO:0007562 "DOID:0111348" -MONDO:0007562 "ICD10:Q77.3" MONDO:0007562 "SCTID:719689005" MONDO:0007562 "MESH:C565046" MONDO:0002944 "UMLS:C1333492" MONDO:0002944 "NCIT:C6081" MONDO:0002944 "DOID:4288" MONDO:0013043 "Orphanet:2134" +MONDO:0013043 "ICD10CM:D58.8" MONDO:0013043 "Orphanet:93575" -MONDO:0013043 "ICD10:D58.8" MONDO:0013043 "OMIM:612925" +MONDO:0017765 "ICD10CM:E83.4" MONDO:0017765 "UMLS:CN227207" MONDO:0017765 "Orphanet:309848" -MONDO:0017765 "ICD10:E83.4" MONDO:0003926 "UMLS:C1335435" MONDO:0003926 "NCIT:C5418" MONDO:0003926 "DOID:6564" -MONDO:0019552 "ICD10:E88.1" MONDO:0019552 "Orphanet:90156" +MONDO:0019552 "ICD10CM:E88.1" MONDO:0020034 "Orphanet:98060" MONDO:0020034 "UMLS:CN206959" -MONDO:0005109 "ICD10:B20" MONDO:0005109 "EFO:0000764" MONDO:0005109 "DOID:526" MONDO:0005109 "UMLS:C0019693" MONDO:0005109 "SCTID:86406008" MONDO:0005109 "NCIT:C3108" -MONDO:0005109 "MESH:D015658" MONDO:0005109 "ICD9:042" -MONDO:0005109 "ICD10:B20.B24" +MONDO:0005109 "MESH:D015658" MONDO:0005109 "ICD9:042-042.99" -MONDO:0005109 "ICD10:B20-B20" -MONDO:0008642 "UMLS:CN206312" -MONDO:0008642 "OMIM:276950" -MONDO:0008642 "ICD10:Q87.2" -MONDO:0008642 "MedDRA:10066022" -MONDO:0008642 "UMLS:C0220708" +MONDO:0005109 "ICD10CM:B20-B20" +MONDO:0008642 "SCTID:27742002" MONDO:0008642 "GARD:0005443" -MONDO:0008642 "DOID:14679" +MONDO:0008642 "MedDRA:10066022" +MONDO:0008642 "OMIM:192350" +MONDO:0008642 "ICD10CM:Q87.2" +MONDO:0008642 "NCIT:C99105" MONDO:0008642 "MedDRA:10053665" +MONDO:0008642 "UMLS:CN206312" MONDO:0008642 "UMLS:C1735591" -MONDO:0008642 "SCTID:27742002" -MONDO:0008642 "NCIT:C99105" -MONDO:0008642 "Orphanet:887" -MONDO:0008642 "OMIM:192350" +MONDO:0008642 "UMLS:C0220708" MONDO:0008642 "ICD9:759.89" +MONDO:0008642 "DOID:14679" +MONDO:0008642 "OMIM:276950" +MONDO:0008642 "Orphanet:887" MONDO:0004393 "DOID:7907" MONDO:0004393 "UMLS:C0280791" MONDO:0004393 "NCIT:C8271" +MONDO:0009879 "ICD10CM:E23.0" MONDO:0009879 "MESH:C537505" MONDO:0009879 "OMIM:262650" MONDO:0009879 "Orphanet:631" MONDO:0009879 "Orphanet:629" -MONDO:0009879 "ICD10:E23.0" -MONDO:0009879 "UMLS:C1849779" MONDO:0009879 "GARD:0000408" +MONDO:0009879 "UMLS:C1849779" MONDO:0000986 "EFO:1001825" -MONDO:0000986 "ICD10:R09.1" MONDO:0000986 "ICD9:511.8" +MONDO:0000986 "ICD10CM:R09.1" MONDO:0000986 "UMLS:C0032231" MONDO:0000986 "DOID:10247" MONDO:0000986 "MESH:D010998" MONDO:0000986 "NCIT:C26860" MONDO:0000986 "SCTID:196075003" MONDO:0007445 "SCTID:239088003" -MONDO:0007445 "ICD10:Q82.4" MONDO:0007445 "GARD:0008550" MONDO:0007445 "MESH:C535374" +MONDO:0007445 "ICD10CM:Q82.4" MONDO:0007445 "Orphanet:86920" MONDO:0007445 "DOID:0111342" MONDO:0007445 "OMIM:125595" MONDO:0001932 "UMLS:C0156393" MONDO:0001932 "DOID:14275" MONDO:0001932 "SCTID:248861000" -MONDO:0001932 "ICD10:N90.5" +MONDO:0001932 "ICD10CM:N90.5" MONDO:0001932 "ICD9:624.1" MONDO:0014484 "OMIM:616080" MONDO:0014484 "DOID:0070284" @@ -2124,17 +2065,17 @@ MONDO:0030988 "OMIM:619228" MONDO:0012408 "OMIM:610092" MONDO:0012408 "Orphanet:98938" MONDO:0012408 "UMLS:C1864721" +MONDO:0054665 "OMIM:617686" +MONDO:0054665 "UMLS:C4540135" MONDO:0010156 "GARD:0005372" MONDO:0010156 "OMIM:275900" MONDO:0010156 "MESH:C536858" MONDO:0010156 "DOID:0050886" MONDO:0010156 "SCTID:230264003" -MONDO:0010156 "ICD9:335.29" MONDO:0010156 "Orphanet:101000" -MONDO:0010156 "ICD10:G11.4" +MONDO:0010156 "ICD9:335.29" +MONDO:0010156 "ICD10CM:G11.4" MONDO:0010156 "UMLS:C0393559" -MONDO:0054665 "OMIM:617686" -MONDO:0054665 "UMLS:C4540135" MONDO:0020221 "Orphanet:98637" MONDO:0011239 "MESH:C566533" MONDO:0011239 "OMIM:602499" @@ -2169,21 +2110,21 @@ MONDO:0009374 "HP:0003260" MONDO:0009374 "OMIM:237000" MONDO:0017823 "UMLS:CN203793" MONDO:0017823 "Orphanet:314769" -MONDO:0017823 "ICD10:D35.2" -MONDO:0021758 "GARD:0005717" -MONDO:0021758 "MESH:C538171" -MONDO:0021758 "SCTID:72050006" +MONDO:0017823 "ICD10CM:D35.2" MONDO:0011597 "MESH:C565292" MONDO:0011597 "OMIM:605804" MONDO:0011597 "DOID:0110099" MONDO:0011597 "UMLS:C1853964" +MONDO:0021758 "GARD:0005717" +MONDO:0021758 "MESH:C538171" +MONDO:0021758 "SCTID:72050006" MONDO:0011426 "GARD:0009499" MONDO:0011426 "DOID:0050711" MONDO:0011426 "ICD9:277.6" MONDO:0011426 "Orphanet:48818" MONDO:0011426 "OMIM:604290" +MONDO:0011426 "ICD10CM:G23.0" MONDO:0011426 "SCTID:124224004" -MONDO:0011426 "ICD10:G23.0" MONDO:0006737 "MESH:D004420" MONDO:0006737 "EFO:1000911" MONDO:0012500 "Orphanet:90280" @@ -2196,15 +2137,15 @@ MONDO:0007811 "Orphanet:2267" MONDO:0032804 "DOID:0111651" MONDO:0032804 "OMIM:618535" MONDO:0017095 "UMLS:CN202452" +MONDO:0017095 "ICD10CM:Q04.8" MONDO:0017095 "Orphanet:268961" -MONDO:0017095 "ICD10:Q04.8" HP:0003474 "SNOMEDCT_US:397974008" HP:0003474 "MSH:D006987" HP:0003474 "UMLS:C0020580" HP:0003474 "SNOMEDCT_US:59073000" HP:0003474 "SNOMEDCT_US:398026008" +MONDO:0015783 "ICD10CM:Q87.1" MONDO:0015783 "Orphanet:177901" -MONDO:0015783 "ICD10:Q87.1" MONDO:0015783 "UMLS:CN200365" MONDO:0004873 "SCTID:90458007" MONDO:0004873 "NCIT:C35319" @@ -2217,7 +2158,7 @@ MONDO:0012999 "MESH:C537622" MONDO:0012999 "ICD9:277.6" MONDO:0012999 "UMLS:C0574080" MONDO:0012999 "Orphanet:382" -MONDO:0012999 "ICD10:E72.8" +MONDO:0012999 "ICD10CM:E72.8" MONDO:0012999 "GARD:0002578" MONDO:0012999 "SCTID:124239003" MONDO:0012999 "OMIM:612736" @@ -2235,13 +2176,13 @@ MONDO:0001262 "UMLS:C0220977" MONDO:0007165 "SCTID:763669001" MONDO:0007165 "MESH:C566247" MONDO:0007165 "Orphanet:1182" -MONDO:0007165 "ICD10:G11.4" +MONDO:0007165 "ICD10CM:G11.4" MONDO:0007165 "DOID:0050945" MONDO:0007165 "OMIM:108650" MONDO:0007165 "UMLS:C1862441" MONDO:0004779 "UMLS:C0014534" MONDO:0004779 "SCTID:31070006" -MONDO:0004779 "ICD10:N45.1" +MONDO:0004779 "ICD10CM:N45.1" MONDO:0004779 "DOID:9402" MONDO:0004779 "MESH:D004823" MONDO:0004779 "NCIT:C12328" @@ -2251,13 +2192,12 @@ MONDO:0021945 "NCIT:C3078" MONDO:0021945 "UMLS:C0260662" MONDO:0021945 "SCTID:128540005" MONDO:0012030 "UMLS:C1842108" -MONDO:0012030 "ICD10:H90.3" MONDO:0012030 "MESH:C564246" MONDO:0012030 "OMIM:608394" MONDO:0012030 "DOID:0110568" MONDO:0007341 "GARD:0005532" -MONDO:0007341 "ICD10:Q77.8" MONDO:0007341 "Orphanet:1453" +MONDO:0007341 "ICD10CM:Q77.8" MONDO:0007341 "OMIM:119650" MONDO:0007341 "UMLS:C1861515" MONDO:0007341 "SCTID:719471002" @@ -2267,11 +2207,10 @@ MONDO:0013941 "OMIM:614875" MONDO:0013941 "Orphanet:99646" MONDO:0020748 "OMIM:618666" MONDO:0020327 "Orphanet:98843" -MONDO:0020327 "ICD10:C81.1" MONDO:0015970 "Orphanet:183634" MONDO:0015970 "UMLS:CN200569" +MONDO:0001505 "ICD10CM:K70.1" MONDO:0001505 "UMLS:C0001306" -MONDO:0001505 "ICD10:K70.1" MONDO:0001505 "NCIT:C34684" MONDO:0001505 "ICD9:571.1" MONDO:0001505 "DOID:12351" @@ -2285,9 +2224,9 @@ MONDO:0003705 "UMLS:C1377915" MONDO:0030071 "OMIM:618955" MONDO:0014358 "UMLS:C4014419" MONDO:0014358 "OMIM:615829" +MONDO:0014358 "ICD10CM:Q87.8" MONDO:0014358 "EFO:0009015" MONDO:0014358 "DOID:0070055" -MONDO:0014358 "ICD10:Q87.8" MONDO:0014358 "Orphanet:412069" MONDO:0013295 "OMIM:613519" MONDO:0013295 "DOID:0110105" @@ -2310,7 +2249,7 @@ MONDO:0015586 "OMIM:615697" MONDO:0030399 "OMIM:619465" NCBITaxon:7371 "GC_ID:1" MONDO:0019342 "OMIM:616051" -MONDO:0019342 "ICD10:Q87.1" +MONDO:0019342 "ICD10CM:Q87.1" MONDO:0019342 "OMIM:614851" MONDO:0019342 "OMIM:615807" MONDO:0019342 "OMIM:616171" @@ -2331,20 +2270,20 @@ MONDO:0019342 "UMLS:C0265202" MONDO:0019342 "ICD9:759.89" NCBITaxon:1313 "GC_ID:11" MONDO:0011018 "GARD:0005478" +MONDO:0011018 "ICD10CM:Q76.3" MONDO:0011018 "Orphanet:2899" MONDO:0011018 "OMIM:601216" MONDO:0011018 "DOID:0090143" MONDO:0011018 "SCTID:716195006" MONDO:0011018 "GARD:5478" -MONDO:0011018 "ICD10:Q76.3" MONDO:0013650 "UMLS:C3280253" MONDO:0013650 "Orphanet:55654" MONDO:0013650 "OMIM:614238" MONDO:0013650 "DOID:0110707" +MONDO:0021522 "ICD10CM:D16.5" MONDO:0021522 "SCTID:92208007" MONDO:0021522 "ICD9:213.1" MONDO:0021522 "UMLS:C0004994" -MONDO:0021522 "ICD10:D16.5" MONDO:0021522 "NCIT:C34417" MONDO:0005266 "DOID:8947" MONDO:0005266 "ICD9:362.0" @@ -2357,7 +2296,6 @@ MONDO:0005266 "SCTID:4855003" MONDO:0005266 "EFO:0003770" MONDO:0005266 "NCIT:C34538" MONDO:0005266 "OMIM:612633" -MONDO:0005266 "ICD10:H36.0" MONDO:0006212 "NCIT:C27878" MONDO:0006212 "EFO:1000259" MONDO:0009729 "UMLS:C1850553" @@ -2366,23 +2304,20 @@ MONDO:0009729 "MESH:C536401" MONDO:0009729 "OMIM:256120" MONDO:0009729 "SCTID:724093004" MONDO:0009729 "Orphanet:2668" -MONDO:0009729 "ICD10:Q87.8" +MONDO:0009729 "ICD10CM:Q87.8" CL:0002079 "FMA:63099" MONDO:0006622 "EFO:1000779" MONDO:0006622 "DOID:6944" MONDO:0006622 "UMLS:C1336981" MONDO:0006622 "NCIT:C6375" MONDO:0000988 "ICD9:388.6" -MONDO:0000988 "ICD10:H92.10" MONDO:0000988 "ICD9:388.60" -MONDO:0000988 "ICD10:H92.1" MONDO:0000988 "DOID:10261" MONDO:0000988 "NCIT:C35199" MONDO:0006668 "EFO:1000829" MONDO:0006668 "DOID:9700" MONDO:0006668 "NCIT:C53656" MONDO:0006668 "SCTID:243321006" -MONDO:0006668 "ICD10:H10.0" MONDO:0006668 "MedDRA:10061784" MONDO:0006668 "MESH:D003234" MONDO:0006668 "ICD9:372.03" @@ -2399,20 +2334,19 @@ MONDO:0015215 "Orphanet:108977" MONDO:0017415 "OMIM:312150" MONDO:0017415 "OMIM:178110" MONDO:0017415 "DOID:0080110" +MONDO:0017415 "ICD10CM:Q79.8" MONDO:0017415 "OMIM:265000" MONDO:0017415 "SCTID:205819008" -MONDO:0017415 "ICD10:Q79.8" MONDO:0017415 "OMIM:253290" MONDO:0017415 "ICD9:755.8" MONDO:0017415 "MESH:C537377" MONDO:0017415 "Orphanet:294060" +MONDO:0018347 "ICD10CM:Q87.8" MONDO:0018347 "UMLS:CN226082" MONDO:0018347 "Orphanet:397933" -MONDO:0018347 "ICD10:Q87.8" HP:0002829 "MSH:D018771" HP:0002829 "UMLS:C0003862" HP:0002829 "SNOMEDCT_US:57676002" -MONDO:0004840 "ICD10:N28.1" MONDO:0004840 "ICD9:593.2" MONDO:0004840 "DOID:9621" MONDO:0004840 "SCTID:105999006" @@ -2422,12 +2356,12 @@ MONDO:0002256 "UMLS:C0007867" MONDO:0002256 "MESH:D002577" MONDO:0002256 "NCIT:C40241" MONDO:0002256 "DOID:2253" +MONDO:0009224 "ICD10CM:P72.2" MONDO:0009224 "SCTID:718228001" MONDO:0009224 "Orphanet:1910" MONDO:0009224 "UMLS:C4273860" MONDO:0009224 "GARD:0002304" MONDO:0009224 "OMIM:228355" -MONDO:0009224 "ICD10:P72.2" MONDO:0003643 "DOID:5774" MONDO:0003643 "UMLS:C1333817" MONDO:0003643 "NCIT:C27777" @@ -2440,7 +2374,7 @@ MONDO:0019165 "OMIMPS:176400" MONDO:0019165 "SCTID:237816004" MONDO:0019165 "OMIM:615346" MONDO:0019165 "MESH:C562787" -MONDO:0019165 "ICD10:E22.8" +MONDO:0019165 "ICD10CM:E22.8" MONDO:0019165 "UMLS:C0342543" MONDO:0019165 "OMIM:176400" MONDO:0019165 "ICD9:259.1" @@ -2451,14 +2385,13 @@ NCBITaxon:976 "PMID:11542017" NCBITaxon:976 "PMID:11541229" NCBITaxon:976 "PMID:29458499" MONDO:0016656 "Orphanet:251061" -MONDO:0016656 "ICD10:Q93.5" +MONDO:0016656 "ICD10CM:Q93.5" MONDO:0016656 "UMLS:CN201886" MONDO:0006035 "DOID:6595" MONDO:0006035 "UMLS:C1333791" MONDO:0006035 "EFO:1000030" MONDO:0006035 "NCIT:C5473" MONDO:0006035 "ONCOTREE:TSTAD" -MONDO:0017602 "ICD10:C84.6" MONDO:0017602 "UMLS:C1332079" MONDO:0017602 "NCIT:C37193" MONDO:0017602 "Orphanet:300895" @@ -2471,15 +2404,15 @@ MONDO:0000474 "UMLS:C0265122" MONDO:0000474 "ICD9:423.9" MONDO:0000474 "ICD9:423.8" MONDO:0000474 "DOID:0050829" +MONDO:0014289 "ICD10CM:Q75.3" MONDO:0014289 "UMLS:C3810225" -MONDO:0014289 "ICD10:Q75.3" MONDO:0014289 "Orphanet:397612" MONDO:0014289 "OMIM:615637" MONDO:0003697 "DOID:5907" MONDO:0003697 "UMLS:C1334984" MONDO:0003697 "NCIT:C27791" MONDO:0009411 "GARD:0005558" -MONDO:0009411 "ICD10:E31.0" +MONDO:0009411 "ICD10CM:E31.0" MONDO:0009411 "UMLS:C0085859" MONDO:0009411 "GARD:0008466" MONDO:0009411 "DOID:0050167" @@ -2489,7 +2422,7 @@ MONDO:0009411 "NCIT:C129727" MONDO:0009411 "ICD9:258.8" MONDO:0009411 "Orphanet:3453" MONDO:0013074 "UMLS:C0406612" -MONDO:0013074 "ICD10:E88.2" +MONDO:0013074 "ICD10CM:E88.2" MONDO:0013074 "SCTID:238905009" MONDO:0013074 "Orphanet:2396" MONDO:0013074 "OMIM:613001" @@ -2503,7 +2436,6 @@ HP:0003077 "UMLS:C0020473" MONDO:0011762 "DOID:0110480" MONDO:0011762 "OMIM:607039" MONDO:0011762 "MESH:C564633" -MONDO:0011762 "ICD10:H90.3" MONDO:0011762 "UMLS:C1846896" MONDO:0011607 "Orphanet:2073" MONDO:0011607 "OMIM:605841" @@ -2525,9 +2457,9 @@ MONDO:0015820 "SCTID:402881008" MONDO:0015820 "UMLS:C1274310" MONDO:0015820 "ICD9:202.80" MONDO:0009614 "NCIT:C142172" +MONDO:0009614 "ICD10CM:E71.1" MONDO:0009614 "GARD:0009479" MONDO:0009614 "OMIM:251110" -MONDO:0009614 "ICD10:E71.1" MONDO:0009614 "Orphanet:79311" MONDO:0009614 "UMLS:C1855102" MONDO:0009614 "Orphanet:28" @@ -2557,8 +2489,8 @@ MONDO:0024277 "SCTID:82835005" MONDO:0024277 "MESH:D054098" MONDO:0010848 "SCTID:719302009" MONDO:0010848 "GARD:0004953" +MONDO:0010848 "ICD10CM:G11.2" MONDO:0010848 "UMLS:C0752123" -MONDO:0010848 "ICD10:G11.2" MONDO:0010848 "Orphanet:98766" MONDO:0010848 "OMIM:600224" MONDO:0010848 "DOID:0050882" @@ -2571,7 +2503,7 @@ MONDO:0009582 "MESH:C537444" MONDO:0009582 "Orphanet:2557" MONDO:0009582 "UMLS:C0265249" MONDO:0009582 "GARD:0003524" -MONDO:0009582 "ICD10:Q87.8" +MONDO:0009582 "ICD10CM:Q87.8" MONDO:0009918 "UMLS:C1849694" MONDO:0009918 "Orphanet:59181" MONDO:0009918 "MESH:C535828" @@ -2580,11 +2512,9 @@ MONDO:0009918 "GARD:0009633" MONDO:0008855 "GARD:0000824" MONDO:0008855 "MESH:C537079" MONDO:0008855 "UMLS:CN239286" -MONDO:0008855 "ICD10:D81.6" MONDO:0008855 "OMIM:209920" MONDO:0008855 "DOID:5812" MONDO:0008855 "SCTID:71904008" -MONDO:0008855 "ICD10:D81.7" MONDO:0008855 "NCIT:C3895" MONDO:0008855 "Orphanet:572" NCBITaxon:3744 "GC_ID:1" @@ -2605,7 +2535,6 @@ MONDO:0001243 "NCIT:C2992" MONDO:0001243 "UMLS:C0012739" MONDO:0001243 "ICD9:286.6" MONDO:0001243 "DOID:11247" -MONDO:0001243 "ICD10:D65" MONDO:0001243 "MESH:D004211" MONDO:0022495 "GARD:0000775" MONDO:0021241 "UMLS:C0345563" @@ -2618,6 +2547,7 @@ MONDO:0012179 "UMLS:C1836907" MONDO:0032835 "OMIM:618618" MONDO:0019648 "OMIMPS:200600" MONDO:0019648 "MESH:C579878" +MONDO:0019648 "ICD10CM:Q77.0" MONDO:0019648 "SCTID:2391001" MONDO:0019648 "OMIM:600972" MONDO:0019648 "MedDRA:10066122" @@ -2626,7 +2556,6 @@ MONDO:0019648 "NCIT:C84527" MONDO:0019648 "GARD:0002882" MONDO:0019648 "OMIM:200600" MONDO:0019648 "UMLS:C0001079" -MONDO:0019648 "ICD10:Q77.0" MONDO:0019648 "DOID:0080043" MONDO:0019648 "OMIM:200610" MONDO:0003246 "NCIT:C27388" @@ -2650,29 +2579,27 @@ MONDO:0003001 "MESH:D018239" MONDO:0003001 "NCIT:C9309" MONDO:0003001 "ONCOTREE:SEM" MONDO:0003001 "NCIT:C7328" -MONDO:0003001 "OMIM:273300" MONDO:0003001 "SCTID:255107005" -MONDO:0002684 "ICD10:C71.5" MONDO:0002684 "NCIT:C53686" MONDO:0002684 "UMLS:C1266176" MONDO:0002684 "Orphanet:251902" MONDO:0002684 "ONCOTREE:ACPP" MONDO:0002684 "ICDO:9390/1" MONDO:0002684 "DOID:3544" +MONDO:0002684 "ICD10CM:C71.5" MONDO:0022682 "GARD:0001179" MONDO:0005884 "ICD9:121.0" MONDO:0005884 "GARD:0009746" +MONDO:0005884 "ICD10CM:B66.0" MONDO:0005884 "DOID:13768" MONDO:0005884 "MESH:D009889" MONDO:0005884 "UMLS:C0029106" MONDO:0005884 "EFO:0007404" -MONDO:0005884 "ICD10:B66.0" MONDO:0005884 "SCTID:1059007" NCBITaxon:91888 "GC_ID:1" NCBITaxon:91888 "PMID:12144762" MONDO:0001464 "ICD9:153.3" MONDO:0001464 "UMLS:C0153436" -MONDO:0001464 "ICD10:C18.7" MONDO:0001464 "DOID:12192" MONDO:0001464 "SCTID:363410008" MONDO:0030063 "OMIM:618922" @@ -2693,7 +2620,6 @@ MONDO:0018512 "Orphanet:423991" MONDO:0018512 "UMLS:CN237517" MONDO:0001347 "Orphanet:269" MONDO:0001347 "SCTID:399091004" -MONDO:0001347 "ICD10:G71.0" MONDO:0001347 "MESH:D020391" MONDO:0001347 "OMIM:158900" MONDO:0001347 "OMIM:600416" @@ -2701,6 +2627,7 @@ MONDO:0001347 "MedDRA:10064087" MONDO:0001347 "NCIT:C84704" MONDO:0001347 "OMIM:158901" MONDO:0001347 "DOID:11727" +MONDO:0001347 "ICD10CM:G71.0" MONDO:0001347 "OMIMPS:158900" MONDO:0001739 "SCTID:24817009" MONDO:0001739 "UMLS:C0155506" @@ -2713,11 +2640,11 @@ MONDO:0010970 "MESH:C563414" MONDO:0016168 "ICD9:759.89" MONDO:0016168 "UMLS:C2316212" MONDO:0016168 "GARD:0010927" +MONDO:0016168 "ICD10CM:E85.0" MONDO:0016168 "NCIT:C84657" MONDO:0016168 "MedDRA:10068850" MONDO:0016168 "Orphanet:208650" MONDO:0016168 "SCTID:430079001" -MONDO:0016168 "ICD10:E85.0" MONDO:0016168 "MESH:D056587" MONDO:0015081 "UMLS:CN197376" MONDO:0015081 "Orphanet:100101" @@ -2729,21 +2656,18 @@ MONDO:0003918 "UMLS:C0334608" MONDO:0003918 "MESH:D008579" MONDO:0003918 "NCIT:C4332" MONDO:0019544 "Orphanet:90068" -MONDO:0019544 "ICD10:T40.5" MONDO:0019544 "ICD9:292.89" MONDO:0019544 "SCTID:27956007" MONDO:0017110 "Orphanet:269212" -MONDO:0017110 "ICD10:Q03.1" +MONDO:0017110 "ICD10CM:Q03.1" MONDO:0009888 "UMLS:C1849771" MONDO:0009888 "MESH:C564882" MONDO:0009888 "OMIM:263100" MONDO:0000335 "DOID:0050490" MONDO:0006238 "EFO:1000287" -MONDO:0006238 "ICD10:E22.0" MONDO:0006238 "SCTID:254957009" MONDO:0006238 "Orphanet:96256" MONDO:0006238 "DOID:6255" -MONDO:0006238 "ICD10:D35.2" MONDO:0006238 "NCIT:C7461" MONDO:0006238 "EFO:0004125" MONDO:0006238 "OMIM:300943" @@ -2762,7 +2686,7 @@ MONDO:0003392 "NCIT:C40130" MONDO:0003392 "DOID:5324" MONDO:0003392 "UMLS:C1517114" MONDO:0007679 "GARD:0002523" -MONDO:0007679 "ICD10:Q87.8" +MONDO:0007679 "ICD10CM:Q87.8" MONDO:0007679 "MESH:C564214" MONDO:0007679 "SCTID:716024001" MONDO:0007679 "Orphanet:2090" @@ -2776,34 +2700,34 @@ HP:0002023 "MSH:D001006" HP:0002023 "SNOMEDCT_US:204712000" HP:0002023 "Fyler:4402" MONDO:0019837 "Orphanet:95510" -MONDO:0019837 "ICD10:Q20.8" +MONDO:0019837 "ICD10CM:Q20.8" HP:0000711 "UMLS:C3887611" HP:0000711 "SNOMEDCT_US:162221009" -NCBITaxon:6182 "GC_ID:1" MONDO:0002116 "UMLS:C0345920" MONDO:0002116 "NCIT:C7430" MONDO:0002116 "SCTID:255088001" MONDO:0002116 "SCTID:254604005" MONDO:0002116 "UMLS:C0346648" MONDO:0002116 "DOID:1795" +NCBITaxon:6182 "GC_ID:1" MONDO:0008019 "UMLS:C2675014" MONDO:0008019 "Orphanet:247768" MONDO:0008019 "OMIM:158330" -MONDO:0008019 "ICD10:Q51.8" MONDO:0008019 "DOID:0111526" MONDO:0008019 "Orphanet:3109" +MONDO:0008019 "ICD10CM:Q51.8" MONDO:0008019 "NCIT:C120376" MONDO:0008019 "MESH:C567186" MONDO:0018870 "OMIM:614473" MONDO:0018870 "OMIM:208000" MONDO:0018870 "GARD:0008380" +MONDO:0018870 "ICD10CM:Q28.8" MONDO:0018870 "OMIMPS:208000" MONDO:0018870 "Orphanet:51608" MONDO:0018870 "MESH:C537440" -MONDO:0018870 "ICD10:Q28.8" MONDO:0018870 "DOID:0050644" +MONDO:0005991 "ICD10CM:A79.0" MONDO:0005991 "MedDRA:10044582" -MONDO:0005991 "ICD10:A79.0" MONDO:0005991 "UMLS:C0040830" MONDO:0005991 "EFO:0007519" MONDO:0005991 "ICD9:083.1" @@ -2813,7 +2737,7 @@ MONDO:0005991 "SCTID:82214002" MONDO:0005991 "MESH:D014205" MONDO:0020065 "UMLS:CN206969" MONDO:0020065 "Orphanet:98203" -MONDO:0020065 "ICD10:G24.1" +MONDO:0020065 "ICD10CM:G24.1" MONDO:0009090 "Orphanet:90641" MONDO:0009090 "MESH:C565637" MONDO:0009090 "OMIM:221745" @@ -2834,11 +2758,10 @@ MONDO:0018050 "GARD:0001369" MONDO:0018050 "OMIM:119100" MONDO:0018050 "Orphanet:3329" MONDO:0018050 "OMIM:610685" -MONDO:0018050 "ICD10:Q73.8" MONDO:0018050 "OMIM:612576" +MONDO:0018050 "ICD10CM:Q73.8" MONDO:0003689 "GARD:0006167" MONDO:0003689 "ICD9:282.9" -MONDO:0003689 "ICD10:D58.9" MONDO:0003689 "NCIT:C34379" MONDO:0003689 "MESH:D000745" MONDO:0003689 "DOID:589" @@ -2855,7 +2778,7 @@ MONDO:0003899 "UMLS:C1332209" MONDO:0003899 "DOID:6495" MONDO:0003899 "NCIT:C27378" MONDO:0009437 "DOID:0050655" -MONDO:0009437 "ICD10:E03.1" +MONDO:0009437 "ICD10CM:E03.1" MONDO:0009437 "SCTID:722375007" MONDO:0009437 "GARD:0000414" MONDO:0009437 "Orphanet:1226" @@ -2865,17 +2788,17 @@ HP:0002901 "UMLS:C0020598" HP:0002901 "MSH:D006996" HP:0002901 "SNOMEDCT_US:5291005" MONDO:0020380 "OMIMPS:164400" +MONDO:0020380 "ICD10CM:G11.8" MONDO:0020380 "UMLS:CN227858" MONDO:0020380 "SCTID:129609000" MONDO:0020380 "GARD:0004346" MONDO:0020380 "ICD9:334.3" MONDO:0020380 "DOID:1441" -MONDO:0020380 "ICD10:G11.8" MONDO:0020380 "Orphanet:99" MONDO:0012344 "DOID:0110044" MONDO:0012344 "MESH:C565228" +MONDO:0012344 "ICD10CM:G30" MONDO:0012344 "UMLS:C1853360" -MONDO:0012344 "ICD10:G30" MONDO:0012344 "OMIM:609790" MONDO:0037829 "SCTID:32612005" MONDO:0037829 "UMLS:C0268104" @@ -2884,18 +2807,17 @@ MONDO:0000063 "HP:0003570" MONDO:0017291 "UMLS:C3544214" MONDO:0017291 "SCTID:700467001" MONDO:0017291 "GARD:0012768" +MONDO:0017291 "ICD10CM:I67.8" MONDO:0017291 "ICD9:437.8" MONDO:0017291 "Orphanet:284388" -MONDO:0017291 "ICD10:I67.8" MONDO:0044144 "NCIT:C97194" MONDO:0044144 "SCTID:35607004" NCBITaxon:2601530 "GC_ID:1" MONDO:0013969 "OMIM:614922" MONDO:0013969 "UMLS:C3554067" MONDO:0013969 "DOID:0111481" -MONDO:0013969 "ICD10:G31.8" MONDO:0013969 "Orphanet:324535" -MONDO:0004936 "ICD10:N85.5" +MONDO:0013969 "ICD10CM:G31.8" MONDO:0004936 "EFO:1001446" MONDO:0004936 "ICD9:665.2" MONDO:0004936 "MESH:D019687" @@ -2903,7 +2825,7 @@ MONDO:0004936 "DOID:997" MONDO:0004936 "SCTID:27215002" MONDO:0007361 "Orphanet:459353" MONDO:0007361 "OMIM:120790" -MONDO:0007361 "ICD10:D84.1" +MONDO:0007361 "ICD10CM:D84.1" MONDO:0007361 "DOID:0060002" MONDO:0007361 "UMLS:C1852700" MONDO:0007361 "Orphanet:169147" @@ -2918,17 +2840,17 @@ MONDO:0012531 "Orphanet:276252" MONDO:0012531 "OMIM:610651" MONDO:0012531 "UMLS:C0268136" MONDO:0012531 "GARD:0005625" -MONDO:0012531 "ICD10:Q82.1" +MONDO:0012531 "ICD10CM:Q82.1" MONDO:0011975 "Orphanet:254519" MONDO:0011975 "MESH:C536471" MONDO:0011975 "Orphanet:96334" MONDO:0011975 "UMLS:C1842466" -MONDO:0011975 "ICD10:Q99.8" +MONDO:0011975 "ICD10CM:Q99.8" MONDO:0011975 "OMIM:608149" MONDO:0011975 "GARD:0005409" +MONDO:0100296 "ICD10CM:Q82.8" MONDO:0100296 "Orphanet:659" MONDO:0100296 "UMLS:C2609071" -MONDO:0100296 "ICD10:Q82.8" MONDO:0100296 "MedDRA:10068842" MONDO:0100296 "OMIM:614594" MONDO:0100296 "OMIM:300918" @@ -2941,27 +2863,28 @@ MONDO:0021952 "MESH:C535299" MONDO:0005108 "ICD9:078.89" MONDO:0005108 "ICD9:079.99" MONDO:0005108 "EFO:0000763" +MONDO:0005108 "ICD10CM:B00-B09" MONDO:0005108 "NCIT:C3439" -MONDO:0005108 "ICD10:A94" MONDO:0005108 "ICD9:066.9" -MONDO:0005108 "ICD10:B34" MONDO:0005108 "DOID:934" +MONDO:0005108 "ICD10CM:A80-A89" MONDO:0005108 "ICD9:060-066.99" +MONDO:0005108 "ICD10CM:A90-A99" MONDO:0005108 "MESH:D014777" -MONDO:0005108 "ICD10:B34.9" MONDO:0005108 "SCTID:34014006" +MONDO:0005108 "ICD10CM:B25-B34" MONDO:0007740 "UMLS:C1840452" MONDO:0007740 "OMIM:143200" MONDO:0007740 "GARD:0007871" -MONDO:0007740 "ICD10:H35.5" +MONDO:0007740 "ICD10CM:H35.5" MONDO:0007740 "MedDRA:10063383" MONDO:0007740 "SCTID:232064001" MONDO:0007740 "Orphanet:898" MONDO:0007740 "MESH:C536075" +MONDO:0030134 "OMIM:618940" MONDO:0004021 "UMLS:C1334665" MONDO:0004021 "NCIT:C6633" MONDO:0004021 "DOID:6868" -MONDO:0030134 "OMIM:618940" MONDO:0008308 "MESH:C531791" MONDO:0008308 "UMLS:C1867771" MONDO:0008308 "OMIM:176620" @@ -2977,14 +2900,13 @@ MONDO:0044710 "NCIT:C42690" MONDO:0044710 "UMLS:C0280297" MONDO:0024666 "NCIT:C7341" MONDO:0024666 "UMLS:C0345981" -MONDO:0007868 "ICD10:G25.8" MONDO:0007868 "OMIM:149400" MONDO:0007868 "Orphanet:3197" MONDO:0007868 "DOID:0060696" MONDO:0016333 "GARD:0000221" MONDO:0016333 "Orphanet:217607" +MONDO:0016333 "ICD10CM:I42.0" MONDO:0016333 "OMIMPS:115200" -MONDO:0016333 "ICD10:I42.0" MONDO:0016333 "Orphanet:217604" MONDO:0016333 "UMLS:C0340427" MONDO:0016333 "GARD:0002905" @@ -3021,8 +2943,8 @@ MONDO:0021497 "NCIT:C8548" MONDO:0001011 "MESH:D047688" MONDO:0001011 "SCTID:399294002" MONDO:0001011 "NCIT:C5315" +MONDO:0001011 "ICD10CM:N60.0" MONDO:0001011 "EFO:1000848" -MONDO:0001011 "ICD10:N60.0" MONDO:0001011 "DOID:10350" MONDO:0017407 "OMIM:615577" MONDO:0017407 "Orphanet:293978" @@ -3030,26 +2952,26 @@ MONDO:0004528 "UMLS:C1335295" MONDO:0004528 "NCIT:C6584" MONDO:0004528 "DOID:8304" MONDO:0017774 "MESH:D006995" +MONDO:0017774 "ICD10CM:E78.6" MONDO:0017774 "UMLS:C0020597" MONDO:0017774 "Orphanet:426" MONDO:0017774 "Orphanet:31154" MONDO:0017774 "DOID:1390" MONDO:0017774 "SCTID:190786004" -MONDO:0017774 "ICD10:E78.6" MONDO:0026726 "OMIM:301028" MONDO:0026726 "DOID:0070357" MONDO:0011481 "SCTID:720817008" MONDO:0011481 "OMIM:604757" +MONDO:0011481 "ICD10CM:Q75.8" MONDO:0011481 "Orphanet:1541" -MONDO:0011481 "ICD10:Q75.8" MONDO:0011481 "GARD:0005538" MONDO:0012123 "SCTID:725078006" MONDO:0012123 "MESH:C535743" MONDO:0012123 "OMIM:608799" MONDO:0012123 "Orphanet:79322" MONDO:0012123 "GARD:0009831" +MONDO:0012123 "ICD10CM:E77.8" MONDO:0012123 "NCIT:C126871" -MONDO:0012123 "ICD10:E77.8" MONDO:0012123 "DOID:0080557" MONDO:0013681 "MESH:C565768" MONDO:0013681 "DOID:0060602" @@ -3080,7 +3002,6 @@ HP:0100261 "UMLS:C4021026" NCBITaxon:186536 "GC_ID:1" MONDO:0016648 "DOID:12721" MONDO:0016648 "OMIM:132400" -MONDO:0016648 "ICD10:Q77.3" MONDO:0016648 "OMIM:226900" MONDO:0016648 "SCTID:59708000" MONDO:0016648 "MESH:D010009" @@ -3092,6 +3013,7 @@ MONDO:0016648 "OMIM:607078" MONDO:0016648 "MedDRA:10028197" MONDO:0016648 "ICD9:756.56" MONDO:0016648 "HP:0002654" +MONDO:0016648 "ICD10CM:Q77.3" MONDO:0016648 "OMIM:600204" MONDO:0016648 "OMIM:614135" MONDO:0009029 "OMIM:218100" @@ -3101,16 +3023,16 @@ MONDO:0013748 "OMIM:614431" MONDO:0002452 "DOID:2887" MONDO:0002452 "NCIT:C5544" MONDO:0002452 "UMLS:C1335510" -MONDO:0015625 "ICD10:E16.1" MONDO:0015625 "Orphanet:165988" +MONDO:0015625 "ICD10CM:E16.1" MONDO:0018848 "NCIT:C26876" MONDO:0018848 "Orphanet:49041" MONDO:0018848 "ICD9:593.4" MONDO:0018848 "MedDRA:10038979" MONDO:0018848 "OMIM:228800" -MONDO:0018848 "ICD10:N13.5" MONDO:0018848 "GARD:0009568" MONDO:0018848 "SCTID:197808006" +MONDO:0018848 "ICD10CM:N13.5" MONDO:0018848 "MESH:D012185" MONDO:0005969 "SCTID:417607009" MONDO:0005969 "MESH:D004674" @@ -3120,23 +3042,23 @@ MONDO:0005969 "EFO:0007495" MONDO:0005969 "ICD9:062.3" MONDO:0005969 "DOID:10845" MONDO:0005969 "MedDRA:10041896" -MONDO:0005969 "ICD10:A83.3" +MONDO:0005969 "ICD10CM:A83.3" MONDO:0010165 "UMLS:C2931370" +MONDO:0010165 "ICD10CM:Q87.2" MONDO:0010165 "UMLS:C1848650" MONDO:0010165 "GARD:0005398" MONDO:0010165 "Orphanet:2249" MONDO:0010165 "OMIM:276821" MONDO:0010165 "MESH:C564757" -MONDO:0010165 "ICD10:Q87.2" MONDO:0020230 "UMLS:CN207058" MONDO:0020230 "Orphanet:98646" MONDO:0008150 "DOID:0111532" MONDO:0008150 "MESH:C536050" MONDO:0008150 "OMIM:166250" +MONDO:0008150 "ICD10CM:Q87.1" MONDO:0008150 "Orphanet:2645" MONDO:0008150 "GARD:0004142" MONDO:0008150 "SCTID:254144002" -MONDO:0008150 "ICD10:Q87.1" MONDO:0036501 "UMLS:C0677936" MONDO:0036501 "NCIT:C120186" MONDO:0003197 "DOID:4903" @@ -3149,8 +3071,8 @@ MONDO:0021579 "SCTID:126583006" MONDO:0009216 "Orphanet:2088" MONDO:0009216 "OMIM:227810" MONDO:0009216 "GARD:0002268" -MONDO:0009216 "ICD10:E74.0" MONDO:0009216 "SCTID:61598006" +MONDO:0009216 "ICD10CM:E74.0" MONDO:0000670 "UMLS:C0392704" MONDO:0000670 "DOID:0060140" MONDO:0006573 "UMLS:C0023787" @@ -3161,13 +3083,12 @@ MONDO:0006573 "HP:0009125" MONDO:0006573 "NCIT:C97093" MONDO:0006573 "MESH:D008060" MONDO:0006573 "EFO:1000727" -MONDO:0006573 "ICD10:E88.1" MONDO:0006573 "DOID:811" +MONDO:0011567 "ICD10CM:I42.0" MONDO:0011567 "Orphanet:154" MONDO:0011567 "DOID:0110437" MONDO:0011567 "MESH:C565320" MONDO:0011567 "UMLS:C1854159" -MONDO:0011567 "ICD10:I42.0" MONDO:0011567 "OMIM:605582" MONDO:0010352 "MESH:C564496" MONDO:0010352 "Orphanet:777" @@ -3180,9 +3101,9 @@ MONDO:0004938 "ICD9:304.60" MONDO:0004938 "DOID:9973" MONDO:0044313 "OMIM:617432" MONDO:0011803 "MESH:C564599" -MONDO:0011803 "ICD10:G11.4" MONDO:0011803 "GARD:0004927" MONDO:0011803 "DOID:0110816" +MONDO:0011803 "ICD10CM:G11.4" MONDO:0011803 "UMLS:C3711370" MONDO:0011803 "SCTID:715776003" MONDO:0011803 "Orphanet:99013" @@ -3190,14 +3111,13 @@ MONDO:0011803 "OMIM:607259" MONDO:0011803 "UMLS:C1846564" MONDO:0019890 "Orphanet:96112" MONDO:0019890 "SCTID:764997000" -MONDO:0019890 "ICD10:Q92.3" NCBITaxon:121739 "GC_ID:1" MONDO:0011977 "Orphanet:178303" MONDO:0011977 "GARD:0004722" MONDO:0011977 "UMLS:C1842464" +MONDO:0011977 "ICD10CM:Q93.5" MONDO:0011977 "MESH:C536110" MONDO:0011977 "OMIM:608156" -MONDO:0011977 "ICD10:Q93.5" MONDO:0011977 "SCTID:719664004" MONDO:0017323 "Orphanet:289103" MONDO:0017323 "UMLS:C4302195" @@ -3207,32 +3127,31 @@ MONDO:0017323 "NCIT:C131421" MONDO:0011097 "DOID:0110121" MONDO:0011097 "UMLS:C1832229" MONDO:0011097 "Orphanet:782" -MONDO:0011097 "ICD10:Q13.8" MONDO:0011097 "OMIM:601499" MONDO:0011097 "MESH:C535680" MONDO:0022900 "GARD:0001610" NCBITaxon:8049 "GC_ID:1" MONDO:0033533 "OMIM:618951" MONDO:0005518 "NCIT:C124575" +MONDO:0005518 "ICD10CM:Q56" +MONDO:0005518 "ICD10CM:Q56.3" MONDO:0005518 "SCTID:75164001" MONDO:0005518 "EFO:0005579" MONDO:0005518 "DOID:3765" -MONDO:0005518 "ICD10:Q56" MONDO:0005518 "Wikipedia:Pseudohermaphroditism" MONDO:0005518 "MESH:D012734" MONDO:0005518 "SCTID:268229003" -MONDO:0005518 "ICD10:Q56.3" MONDO:0005518 "ICD9:752.7" MONDO:0008699 "Orphanet:929" MONDO:0008699 "OMIM:200450" MONDO:0008699 "UMLS:C1860212" MONDO:0008699 "SCTID:718573009" -MONDO:0008699 "ICD10:Q39.5" -MONDO:0008699 "GARD:0000456" MONDO:0008699 "MESH:C536010" +MONDO:0008699 "GARD:0000456" MONDO:0008699 "DOID:0050796" -MONDO:0018764 "Orphanet:468631" +MONDO:0008699 "ICD10CM:Q39.5" MONDO:0018764 "OMIM:614833" +MONDO:0018764 "Orphanet:468631" MONDO:0014328 "NCIT:C142802" MONDO:0014328 "UMLS:C3810400" MONDO:0014328 "DOID:0080431" @@ -3242,14 +3161,13 @@ MONDO:0002047 "ICD9:517.2" MONDO:0002047 "DOID:1578" MONDO:0002047 "SCTID:196133001" MONDO:0002047 "UMLS:C0339904" -MONDO:0002047 "ICD10:M34.81" MONDO:0013113 "UMLS:C2751322" MONDO:0013113 "OMIM:613073" MONDO:0013113 "MESH:C567771" MONDO:0013113 "Orphanet:1040" +MONDO:0017963 "ICD10CM:Q56.2" MONDO:0017963 "Orphanet:325093" MONDO:0017963 "UMLS:CN227227" -MONDO:0017963 "ICD10:Q56.2" MONDO:0021085 "NCIT:C3387" MONDO:0021085 "EFO:0003897" MONDO:0021085 "MESH:D013274" @@ -3258,16 +3176,15 @@ MONDO:0021085 "UMLS:C0038356" MONDO:0014738 "DOID:0110590" MONDO:0014738 "OMIM:616697" MONDO:0014738 "UMLS:C4225241" -MONDO:0014738 "ICD10:H90.3" MONDO:0003442 "NCIT:C39857" MONDO:0003442 "DOID:5432" MONDO:0003442 "UMLS:C1511197" MONDO:0015595 "Orphanet:163921" -MONDO:0015595 "ICD10:A86" +MONDO:0015595 "ICD10CM:A86" MONDO:0004685 "SCTID:187716008" MONDO:0004685 "ICD9:149.1" MONDO:0004685 "DOID:8937" -MONDO:0004685 "ICD10:C14.2" +MONDO:0004685 "ICD10CM:C14.2" MONDO:0004685 "UMLS:C0153406" NCBITaxon:1489841 "GC_ID:1" MONDO:0014515 "OMIM:616170" @@ -3280,7 +3197,6 @@ MONDO:0021358 "SCTID:126686005" MONDO:0003821 "NCIT:C39992" MONDO:0003821 "UMLS:C1518691" MONDO:0003821 "DOID:6232" -MONDO:0006005 "ICD10:A92.2" MONDO:0006005 "SCTID:417067005" MONDO:0006005 "ICD9:066.2" MONDO:0006005 "GARD:0006355" @@ -3288,6 +3204,7 @@ MONDO:0006005 "DOID:9584" MONDO:0006005 "EFO:0007534" MONDO:0006005 "NCIT:C35121" MONDO:0006005 "UMLS:C0014078" +MONDO:0006005 "ICD10CM:A92.2" MONDO:0006005 "MESH:D004685" MONDO:0001660 "DOID:13207" MONDO:0001660 "ICD9:362.02" @@ -3300,16 +3217,15 @@ MONDO:0009186 "OMIM:226800" MONDO:0012557 "OMIM:610773" MONDO:0012557 "SCTID:718713000" MONDO:0012557 "UMLS:C1835845" +MONDO:0012557 "ICD10CM:G71.3" MONDO:0012557 "MESH:C563665" MONDO:0012557 "Orphanet:91130" MONDO:0012557 "UMLS:C4305259" -MONDO:0012557 "ICD10:G71.3" MONDO:0016177 "Orphanet:209007" MONDO:0016177 "UMLS:CN200929" -MONDO:0018146 "ICD10:H35.5" +MONDO:0018146 "ICD10CM:H35.5" MONDO:0018146 "Orphanet:353344" MONDO:0018146 "UMLS:CN204544" -MONDO:0016834 "ICD10:Q92.3" MONDO:0016834 "Orphanet:261204" MONDO:0016834 "SCTID:733518000" MONDO:0016834 "UMLS:C4518821" @@ -3319,14 +3235,14 @@ MONDO:0003927 "UMLS:C0278867" MONDO:0003927 "UMLS:C0278868" MONDO:0003927 "NCIT:C9090" MONDO:0003927 "NCIT:C9089" +MONDO:0019553 "ICD10CM:E88.1" MONDO:0019553 "Orphanet:90157" MONDO:0019553 "SCTID:403661001" MONDO:0019553 "UMLS:CN227649" -MONDO:0019553 "ICD10:E88.1" MONDO:0001504 "ICD9:302.81" MONDO:0001504 "DOID:1235" -MONDO:0001504 "ICD10:F65.0" MONDO:0001504 "SCTID:59174009" +MONDO:0001504 "ICD10CM:F65.0" MONDO:0001504 "MESH:D005329" MONDO:0001504 "NCIT:C94353" MONDO:0018356 "UMLS:CN226097" @@ -3337,17 +3253,17 @@ MONDO:0003704 "NCIT:C40170" MONDO:0003704 "DOID:5917" MONDO:0017102 "UMLS:CN202460" MONDO:0017102 "Orphanet:269008" -MONDO:0017102 "ICD10:Q04.8" +MONDO:0017102 "ICD10CM:Q04.8" MONDO:0017102 "OMIM:607341" +MONDO:0012839 "ICD10CM:D84.8" MONDO:0012839 "OMIM:612260" MONDO:0012839 "UMLS:C2677092" MONDO:0012839 "GARD:0012638" -MONDO:0012839 "ICD10:D84.8" MONDO:0012839 "MESH:C567379" MONDO:0012839 "Orphanet:183713" MONDO:0007446 "MESH:C562379" MONDO:0007446 "ICD9:709.8" -MONDO:0007446 "ICD10:L82" +MONDO:0007446 "ICD10CM:L82" MONDO:0007446 "UMLS:C0011645" MONDO:0007446 "NCIT:C2984" MONDO:0007446 "SCTID:254669003" @@ -3359,19 +3275,19 @@ MONDO:0013998 "UMLS:C3554247" MONDO:0013998 "OMIM:614976" MONDO:0013998 "Orphanet:65759" MONDO:0019482 "Orphanet:86903" -MONDO:0019482 "ICD10:C96.4" +MONDO:0019482 "ICD10CM:C96.4" MONDO:0016364 "OMIM:608629" MONDO:0016364 "UMLS:CN201217" MONDO:0016364 "OMIM:614464" MONDO:0016364 "OMIM:617121" MONDO:0016364 "GARD:0010168" -MONDO:0016364 "ICD10:Q04.3" -MONDO:0016364 "ICD10:H35.5" MONDO:0016364 "OMIM:614424" MONDO:0016364 "UMLS:C1837713" MONDO:0016364 "Orphanet:220493" MONDO:0016364 "SCTID:716998009" +MONDO:0016364 "ICD10CM:H35.5" MONDO:0016364 "OMIM:614970" +MONDO:0016364 "ICD10CM:Q04.3" MONDO:0016364 "UMLS:C4274118" MONDO:0006176 "EFO:1000210" MONDO:0006176 "UMLS:C0205643" @@ -3386,8 +3302,8 @@ MONDO:0003058 "DOID:4594" MONDO:0003058 "UMLS:C1384408" MONDO:0003058 "NCIT:C4721" MONDO:0003058 "EFO:1000376" +MONDO:0019740 "ICD10CM:M31.3" MONDO:0019740 "UMLS:C2584778" -MONDO:0019740 "ICD10:M31.3" MONDO:0019740 "UMLS:C2584777" MONDO:0019740 "Orphanet:93585" MONDO:0019740 "GARD:0004607" @@ -3396,17 +3312,18 @@ MONDO:0019740 "NCIT:C131653" MONDO:0019740 "SCTID:438476003" MONDO:0015144 "UMLS:CN197488" MONDO:0015144 "Orphanet:102005" +MONDO:0015144 "ICD10CM:G00-G09" MONDO:0008478 "GARD:0000504" MONDO:0008478 "SCTID:719304005" -MONDO:0008478 "ICD10:Q77.8" MONDO:0008478 "MESH:C535794" MONDO:0008478 "OMIM:184253" +MONDO:0008478 "ICD10CM:Q77.8" MONDO:0008478 "Orphanet:93316" MONDO:0009552 "GARD:0000092" MONDO:0009552 "SCTID:239069005" MONDO:0009552 "Orphanet:87503" MONDO:0009552 "UMLS:C0025221" -MONDO:0009552 "ICD10:Q82.8" +MONDO:0009552 "ICD10CM:Q82.8" MONDO:0009552 "OMIM:248300" MONDO:0009552 "DOID:0060862" MONDO:0009552 "ICD9:757.39" @@ -3417,26 +3334,25 @@ MONDO:0018543 "OMIM:615361" MONDO:0018543 "Orphanet:428" MONDO:0018543 "OMIMPS:601198" MONDO:0018543 "UMLS:CN205077" +MONDO:0018543 "ICD10CM:E20.8" MONDO:0018543 "DOID:0090109" MONDO:0018543 "OMIM:601198" MONDO:0018543 "SCTID:711152006" MONDO:0018543 "GARD:0002877" -MONDO:0018543 "ICD10:E20.8" MONDO:0014107 "OMIM:615271" MONDO:0014107 "UMLS:C3808986" MONDO:0014107 "DOID:0090093" MONDO:0014107 "Orphanet:478" -MONDO:0014107 "ICD10:E23.0" MONDO:0008050 "SCTID:764859001" MONDO:0008050 "UMLS:CN074249" MONDO:0008050 "OMIM:160500" +MONDO:0008050 "ICD10CM:G71.0" MONDO:0008050 "DOID:0070197" -MONDO:0008050 "ICD10:G71.0" MONDO:0008050 "GARD:0010769" MONDO:0008050 "Orphanet:59135" MONDO:0013044 "Orphanet:2134" MONDO:0013044 "Orphanet:217023" -MONDO:0013044 "ICD10:D58.8" +MONDO:0013044 "ICD10CM:D58.8" MONDO:0013044 "OMIM:612926" MONDO:0020035 "Orphanet:98061" MONDO:0020035 "UMLS:CN206960" @@ -3444,26 +3360,25 @@ MONDO:0004394 "UMLS:C1334647" MONDO:0004394 "SCTID:707354003" MONDO:0004394 "NCIT:C6064" MONDO:0004394 "DOID:7910" -MONDO:0000987 "ICD10:K82.4" +MONDO:0000987 "ICD10CM:K82.4" MONDO:0000987 "DOID:10254" MONDO:0000987 "SCTID:61565001" MONDO:0000987 "ICD9:575.6" MONDO:0000987 "UMLS:C0152456" +MONDO:0015027 "ICD10CM:E21.0" MONDO:0015027 "UMLS:CN207422" -MONDO:0015027 "ICD10:E21.0" MONDO:0015027 "OMIM:610071" MONDO:0015027 "NCIT:C94830" MONDO:0015027 "OMIM:617343" MONDO:0015027 "Orphanet:99879" MONDO:0015027 "OMIM:145000" +MONDO:0009082 "ICD10CM:H90.5" MONDO:0009082 "OMIM:221200" MONDO:0009082 "DOID:0111628" MONDO:0009082 "GARD:0012844" MONDO:0009082 "SCTID:720506002" MONDO:0009082 "UMLS:CN204687" -MONDO:0009082 "ICD10:H90.5" MONDO:0009082 "Orphanet:363396" -MONDO:0001933 "ICD10:E16" MONDO:0001933 "UMLS:C0271633" MONDO:0001933 "ICD9:251" MONDO:0001933 "DOID:1428" @@ -3472,11 +3387,11 @@ MONDO:0001933 "NCIT:C27067" MONDO:0012149 "OMIM:608903" MONDO:0017096 "UMLS:CN202453" MONDO:0017096 "Orphanet:268973" -MONDO:0017096 "ICD10:Q04.8" +MONDO:0017096 "ICD10CM:Q04.8" MONDO:0014485 "Orphanet:2254" MONDO:0014485 "UMLS:C4015160" MONDO:0014485 "OMIM:616081" -MONDO:0015784 "ICD10:Q87.1" +MONDO:0015784 "ICD10CM:Q87.1" MONDO:0015784 "UMLS:CN200366" MONDO:0015784 "Orphanet:177904" HP:0002524 "SNOMEDCT_US:46263000" @@ -3487,7 +3402,6 @@ MONDO:0012409 "DOID:0060839" MONDO:0012409 "Orphanet:2542" MONDO:0012409 "MESH:C566446" MONDO:0012409 "OMIM:610093" -MONDO:0012409 "ICD10:Q11.0" MONDO:0010157 "GARD:0004268" MONDO:0010157 "MESH:C562658" MONDO:0010157 "SCTID:12045002" @@ -3504,7 +3418,6 @@ MONDO:0002654 "UMLS:C0042131" MONDO:0002654 "MESH:D014591" MONDO:0002654 "ICD9:621.9" MONDO:0002654 "DOID:345" -MONDO:0002654 "ICD10:N85.9" MONDO:0044209 "OMIMPS:614372" PO:0009010 "PO_GIT:405" HP:0005257 "UMLS:C1837482" @@ -3515,7 +3428,6 @@ MONDO:0009927 "EFO:1001977" MONDO:0009927 "Orphanet:2998" MONDO:0009927 "OMIM:265050" MONDO:0012336 "UMLS:C1857853" -MONDO:0012336 "ICD10:Q12.0" MONDO:0012336 "OMIM:609741" MONDO:0012336 "Orphanet:91492" MONDO:0012336 "Orphanet:98988" @@ -3538,8 +3450,8 @@ MONDO:0009810 "GARD:0004144" MONDO:0009810 "Orphanet:2776" MONDO:0009375 "OMIM:237100" MONDO:0009375 "SCTID:65937002" +MONDO:0009375 "ICD10CM:Q52.3" MONDO:0009375 "MESH:C562397" -MONDO:0009375 "ICD10:Q52.3" MONDO:0009375 "ICD9:752.42" MONDO:0015971 "Orphanet:183637" MONDO:0015971 "UMLS:CN200570" @@ -3549,7 +3461,7 @@ MONDO:0017824 "OMIMPS:102200" MONDO:0017824 "OMIM:102200" MONDO:0017824 "Orphanet:314777" MONDO:0017824 "SCTID:702375004" -MONDO:0017824 "ICD10:D35.2" +MONDO:0017824 "ICD10CM:D35.2" MONDO:0017824 "OMIM:600634" MONDO:0011598 "MESH:C565291" MONDO:0011598 "DOID:0110100" @@ -3577,9 +3489,9 @@ MONDO:0021640 "NCIT:C127816" HP:0100799 "UMLS:C0345617" HP:0100799 "NCIT:C3262" HP:0100799 "SNOMEDCT_US:127006003" +MONDO:0010378 "ICD10CM:G60.8" MONDO:0010378 "OMIM:300614" MONDO:0010378 "UMLS:C1845095" -MONDO:0010378 "ICD10:G60.8" MONDO:0010378 "UMLS:C4304400" MONDO:0010378 "SCTID:719838008" MONDO:0010378 "GARD:0012731" @@ -3589,15 +3501,15 @@ MONDO:0014194 "OMIM:615453" MONDO:0014194 "Orphanet:1460" MONDO:0014194 "UMLS:C3809553" MONDO:0014194 "DOID:0080115" -MONDO:0100114 "MEDDRA:10075567" -MONDO:0020443 "ICD10:Q26.8" +MONDO:0100114 "MedDRA:10075567" +MONDO:0020443 "ICD10CM:Q26.8" MONDO:0020443 "Orphanet:99112" MONDO:0013777 "Orphanet:757" -MONDO:0013777 "ICD10:I15.1" MONDO:0013777 "Orphanet:88939" MONDO:0013777 "MESH:C564161" MONDO:0013777 "OMIM:614491" MONDO:0013777 "UMLS:C1840390" +MONDO:0013777 "ICD10CM:I15.1" MONDO:0008363 "OMIM:179500" MONDO:0008363 "MESH:C566724" MONDO:0001263 "UMLS:C0153278" @@ -3607,8 +3519,8 @@ MONDO:0001263 "ICD9:115.92" MONDO:0007166 "UMLS:C1862440" MONDO:0007166 "OMIM:108700" MONDO:0007166 "MESH:C566246" +MONDO:0007342 "OMIM:119800" MONDO:0007342 "Orphanet:199315" -MONDO:0007342 "ICD10:Q66.0" MONDO:0007342 "MESH:D003025" MONDO:0007342 "ICD9:754.51" MONDO:0007342 "NCIT:C84641" @@ -3616,8 +3528,6 @@ MONDO:0007342 "DOID:11836" MONDO:0007342 "Orphanet:293144" MONDO:0007342 "SCTID:397932003" MONDO:0007342 "Orphanet:293150" -MONDO:0007342 "ICD10:Q66.89" -MONDO:0007342 "OMIM:119800" MONDO:0021523 "NCIT:C3597" MONDO:0021523 "SCTID:92293007" MONDO:0021523 "UMLS:C0153940" @@ -3637,10 +3547,10 @@ MONDO:0012722 "UMLS:C2673203" MONDO:0012722 "MESH:C567093" MONDO:0023069 "GARD:0008651" MONDO:0023069 "DOID:0050332" +MONDO:0030072 "OMIM:618959" MONDO:0003706 "UMLS:C1332191" MONDO:0003706 "NCIT:C6954" MONDO:0003706 "DOID:5922" -MONDO:0030072 "OMIM:618959" MONDO:0023704 "GARD:0003404" MONDO:0023704 "OMIM:119580" MONDO:0023704 "MESH:C536027" @@ -3662,12 +3572,12 @@ MONDO:0005384 "UMLS:C0014547" MONDO:0017579 "OMIM:614583" MONDO:0017579 "ICD9:759.89" MONDO:0017579 "DOID:0060229" -MONDO:0017579 "ICD10:Q87.0" MONDO:0017579 "SCTID:702410002" MONDO:0017579 "OMIMPS:243310" MONDO:0017579 "GARD:0005279" MONDO:0017579 "Orphanet:2995" MONDO:0017579 "OMIM:243310" +MONDO:0017579 "ICD10CM:Q87.0" MONDO:0000766 "DOID:0060443" MONDO:0000766 "ICD9:371.57" MONDO:0000766 "SCTID:416960004" @@ -3678,51 +3588,49 @@ MONDO:0006669 "SCTID:301183007" MONDO:0006669 "EFO:1000830" MONDO:0006669 "NCIT:C128359" MONDO:0006669 "MESH:D004697" -MONDO:0008760 "ICD10:E71.1" -MONDO:0008760 "NCIT:C98841" -MONDO:0008760 "GARD:0000872" MONDO:0008760 "OMIM:203750" -MONDO:0008760 "DOID:14723" -MONDO:0008760 "Orphanet:134" +MONDO:0008760 "ICD10CM:E71.1" MONDO:0008760 "MESH:C535434" +MONDO:0008760 "Orphanet:134" +MONDO:0008760 "NCIT:C98841" +MONDO:0008760 "DOID:14723" +MONDO:0008760 "GARD:0000872" FOODON:03400643 "http://www.langual.org/langual_thesaurus.asp?termid=A0643" +MONDO:0022809 "GARD:0001448" MONDO:0015587 "UMLS:CN199957" MONDO:0015587 "OMIM:300643" MONDO:0015587 "OMIM:245570" MONDO:0015587 "Orphanet:163721" MONDO:0015216 "Orphanet:108979" MONDO:0015216 "UMLS:CN226633" -MONDO:0022809 "GARD:0001448" -MONDO:0010614 "ICD10:Q84.2" MONDO:0010614 "Orphanet:79495" MONDO:0010614 "GARD:0002863" MONDO:0010614 "MESH:C538388" MONDO:0010614 "OMIM:307150" MONDO:0010614 "Orphanet:2222" -MONDO:0016774 "ICD10:L43.8" +MONDO:0010614 "ICD10CM:Q84.2" MONDO:0016774 "UMLS:C0406366" MONDO:0016774 "GARD:0010816" +MONDO:0016774 "ICD10CM:L43.8" MONDO:0016774 "Orphanet:254463" MONDO:0016774 "SCTID:717061002" MONDO:0001748 "NCIT:C3540" MONDO:0001748 "NCIT:C9332" MONDO:0001748 "ICD9:160.2" -MONDO:0001748 "ICD10:C31.0" MONDO:0001748 "DOID:1357" MONDO:0001748 "SCTID:363425008" MONDO:0017416 "MESH:D016262" MONDO:0017416 "GARD:0004454" MONDO:0017416 "EFO:0007454" MONDO:0017416 "DOID:4952" -MONDO:0017416 "ICD10:G14" MONDO:0017416 "UMLS:C0080040" +MONDO:0017416 "ICD10CM:G10-G14" MONDO:0017416 "Orphanet:2942" MONDO:0017416 "SCTID:31097004" NCBITaxon:1314 "GC_ID:11" MONDO:0013651 "UMLS:C3280265" MONDO:0013651 "GARD:0012233" MONDO:0013651 "OMIM:614249" -MONDO:0011490 "ICD10:J44.8" MONDO:0011490 "ICD9:491.8" MONDO:0011490 "OMIM:604809" MONDO:0011490 "SCTID:430476004" @@ -3736,6 +3644,7 @@ MONDO:0003644 "DOID:5775" MONDO:0003644 "NCIT:C5395" MONDO:0005267 "DOID:114" MONDO:0005267 "EFO:0003777" +MONDO:0005267 "ICD10CM:I30-I5A" MONDO:0005267 "MESH:D006331" MONDO:0005267 "UMLS:CN236661" MONDO:0005267 "NCIT:C3079" @@ -3743,7 +3652,6 @@ MONDO:0005267 "UMLS:CN239852" MONDO:0005267 "ICD9:429.9" MONDO:0005267 "ICD9:V47.2" MONDO:0005267 "ICD9:429.89" -MONDO:0005267 "ICD10:I51.9" MONDO:0005267 "SCTID:56265001" MONDO:0005267 "UMLS:C0018799" MONDO:0001370 "UMLS:C0031039" @@ -3759,23 +3667,21 @@ MONDO:0018818 "Orphanet:480701" MONDO:0018818 "UMLS:CN776915" MONDO:0000989 "SCTID:36989005" MONDO:0000989 "GARD:0007116" +MONDO:0000989 "ICD10CM:B26" MONDO:0000989 "NCIT:C29888" MONDO:0000989 "EFO:0007383" -MONDO:0000989 "ICD10:B26.9" MONDO:0000989 "DOID:10264" MONDO:0000989 "MESH:D009107" MONDO:0000989 "MESH:D019351" -MONDO:0000989 "ICD10:B26" MONDO:0000989 "ICD9:072" MONDO:0000989 "UMLS:C0026780" -MONDO:0016657 "ICD10:Q93.5" MONDO:0016657 "Orphanet:251066" +MONDO:0016657 "ICD10CM:Q93.5" MONDO:0016657 "UMLS:CN201887" MONDO:0016657 "SCTID:719646006" MONDO:0016657 "UMLS:C4304505" MONDO:0018020 "MESH:D008630" MONDO:0018020 "Orphanet:330021" -MONDO:0018020 "ICD10:T56.1" MONDO:0018020 "GARD:0007021" MONDO:0018020 "ICD9:985.0" MONDO:0018020 "EFO:1001810" @@ -3785,14 +3691,12 @@ MONDO:0001935 "DOID:14286" MONDO:0001935 "EFO:1001378" MONDO:0001935 "MESH:D001177" MONDO:0001935 "ICD9:713.5" -MONDO:0001935 "ICD10:M14.6" MONDO:0001935 "UMLS:C0003892" MONDO:0017603 "Orphanet:300903" MONDO:0017603 "UMLS:C1332078" MONDO:0017603 "ICDO:9702/3" MONDO:0017603 "EFO:1000083" MONDO:0017603 "NCIT:C37194" -MONDO:0017603 "ICD10:C84.7" NCBITaxon:37296 "GC_ID:1" MONDO:0012892 "Orphanet:300284" MONDO:0012892 "UMLS:C2676285" @@ -3808,38 +3712,37 @@ MONDO:0030989 "OMIM:619258" MONDO:0017261 "UMLS:CN202779" MONDO:0017261 "Orphanet:280933" MONDO:0008142 "UMLS:C0264081" +MONDO:0008142 "ICD10CM:M93.2" MONDO:0008142 "ICD9:716.84" MONDO:0008142 "Orphanet:3314" MONDO:0008142 "SCTID:55166000" MONDO:0008142 "OMIM:165700" MONDO:0008142 "MESH:C537144" -MONDO:0008142 "ICD10:M93.2" MONDO:0008142 "GARD:0004131" MONDO:0002257 "DOID:227" MONDO:0002257 "ICD9:718.5" -MONDO:0002257 "ICD10:M24.6" MONDO:0002257 "ICD9:718.50" MONDO:0002257 "HP:0031013" MONDO:0002257 "SCTID:111227009" MONDO:0002257 "MESH:D000844" MONDO:0015645 "SCTID:230450001" -MONDO:0015645 "ICD10:G40.8" MONDO:0015645 "Orphanet:166418" +MONDO:0015645 "ICD10CM:G40.8" MONDO:0015645 "UMLS:C0393725" MONDO:0009225 "MESH:C565569" MONDO:0009225 "OMIM:228400" MONDO:0009225 "UMLS:C1856788" -MONDO:0015821 "ICD10:C84.0" MONDO:0015821 "UMLS:CN226743" +MONDO:0015821 "ICD10CM:C84.0" MONDO:0015821 "Orphanet:178566" +MONDO:0010322 "UMLS:C0796207" +MONDO:0010322 "MESH:C563135" +MONDO:0010322 "OMIM:300428" MONDO:0004559 "UMLS:C1333821" MONDO:0004559 "NCIT:C6560" MONDO:0004559 "ICD9:171.9" MONDO:0004559 "DOID:8420" MONDO:0004559 "SCTID:699659007" -MONDO:0010322 "UMLS:C0796207" -MONDO:0010322 "MESH:C563135" -MONDO:0010322 "OMIM:300428" MONDO:0011880 "OMIM:607644" MONDO:0011880 "UMLS:C1843306" MONDO:0011880 "MESH:C564361" @@ -3847,7 +3750,6 @@ MONDO:0001569 "SCTID:126949007" MONDO:0001569 "CSP:2012-6947" MONDO:0001569 "DOID:12689" MONDO:0001569 "NCIT:C3276" -MONDO:0001569 "ICD10:D33.3" MONDO:0001569 "MESH:D009464" MONDO:0001569 "HP:0009588" MONDO:0001569 "GARD:0000223" @@ -3860,23 +3762,23 @@ MONDO:0002515 "UMLS:C0267792" MONDO:0002515 "NCIT:C3959" MONDO:0002515 "DOID:3118" NCBITaxon:11018 "GC_ID:1" -MONDO:0022513 "ICD10:L90.3" +MONDO:0022513 "ICD10CM:L90.3" MONDO:0022513 "SCTID:711524008" MONDO:0022513 "GARD:0005866" MONDO:0044322 "OMIM:617532" MONDO:0044322 "UMLS:C4479636" MONDO:0012501 "OMIM:610452" MONDO:0012501 "GARD:0008273" -MONDO:0003698 "NCIT:C6982" -MONDO:0003698 "DOID:5908" -MONDO:0003698 "ONCOTREE:VPSCC" -MONDO:0003698 "UMLS:C1336955" MONDO:0009583 "UMLS:C0796094" MONDO:0009583 "ICD9:525.8" MONDO:0009583 "OMIM:249620" MONDO:0009583 "Orphanet:2728" MONDO:0009583 "ICD9:374.89" MONDO:0009583 "SCTID:412787009" +MONDO:0003698 "NCIT:C6982" +MONDO:0003698 "DOID:5908" +MONDO:0003698 "ONCOTREE:VPSCC" +MONDO:0003698 "UMLS:C1336955" MONDO:0019766 "UMLS:CN206701" MONDO:0019766 "Orphanet:93945" CL:1000746 "KUPO:0001036" @@ -3893,7 +3795,7 @@ MONDO:0002173 "SCTID:443892003" MONDO:0002173 "ICD9:215.9" MONDO:0018569 "Orphanet:435938" MONDO:0018569 "UMLS:CN237580" -MONDO:0018569 "ICD10:Q87.8" +MONDO:0018569 "ICD10CM:Q87.8" MONDO:0011763 "OMIM:607044" MONDO:0007016 "MedDRA:10047586" MONDO:0007016 "ICD9:264" @@ -3906,7 +3808,6 @@ MONDO:0007016 "NCIT:C85220" MONDO:0007016 "SCTID:72000004" MONDO:0007016 "HP:0004905" FOODON:03460225 "http://www.langual.org/langual_thesaurus.asp?termid=H0225" -MONDO:0006903 "ICD10:G57.3" MONDO:0006903 "SCTID:399088004" MONDO:0006903 "MedDRA:10033828" MONDO:0006903 "EFO:1001102" @@ -3932,10 +3833,9 @@ MONDO:0033542 "OMIM:618969" MONDO:0017690 "SCTID:237963003" MONDO:0017690 "Orphanet:308467" MONDO:0017690 "UMLS:C0342745" -MONDO:0017690 "ICD10:E74.2" +MONDO:0019649 "ICD10CM:N04.1" MONDO:0019649 "Orphanet:93206" MONDO:0019649 "UMLS:CN206521" -MONDO:0019649 "ICD10:N04.1" MONDO:0012009 "UMLS:C1842260" MONDO:0012009 "OMIM:608316" MONDO:0014641 "DOID:0110069" @@ -3959,28 +3859,26 @@ MONDO:0013296 "Orphanet:168953" MONDO:0013296 "NCIT:C84277" MONDO:0013296 "ONCOTREE:MLNFGFR1" MONDO:0013296 "UMLS:C2827362" -MONDO:0013296 "ICD10:D47.1" +MONDO:0013296 "ICD10CM:D47.1" MONDO:0032649 "DOID:0080582" MONDO:0032649 "OMIM:618275" MONDO:0011984 "Orphanet:93403" -MONDO:0011984 "ICD10:Q70.2" MONDO:0011984 "Orphanet:295197" MONDO:0011984 "UMLS:C1842422" -MONDO:0011984 "ICD10:Q70.0" MONDO:0011984 "MESH:C564278" MONDO:0011984 "OMIM:608180" MONDO:0009919 "GARD:0004543" MONDO:0009919 "OMIM:264470" MONDO:0009919 "SCTID:238069004" MONDO:0009919 "Orphanet:2971" +MONDO:0009919 "ICD10CM:E71.3" MONDO:0009919 "UMLS:C1849678" MONDO:0009919 "MESH:C536662" MONDO:0009919 "DOID:0050797" MONDO:0009919 "ICD9:255.41" -MONDO:0009919 "ICD10:E71.3" +MONDO:0012930 "ICD10CM:D70" MONDO:0012930 "Orphanet:331176" MONDO:0012930 "UMLS:C2675526" -MONDO:0012930 "ICD10:D70" MONDO:0012930 "OMIM:612541" NCBITaxon:3745 "GC_ID:1" MONDO:0014524 "OMIM:616193" @@ -4000,12 +3898,12 @@ MONDO:0011312 "GARD:0008488" MONDO:0011312 "Orphanet:319487" MONDO:0011312 "UMLS:C1863925" MONDO:0011312 "OMIM:603386" -MONDO:0013512 "ICD10:D56.0" MONDO:0013512 "Orphanet:93616" MONDO:0013512 "NCIT:C95504" MONDO:0013512 "MedDRA:10063435" MONDO:0013512 "OMIM:613978" MONDO:0013512 "DOID:0110031" +MONDO:0013512 "ICD10CM:D56.0" MONDO:0013512 "UMLS:C3161174" MONDO:0013512 "ICD9:282.49" MONDO:0013512 "UMLS:C0002312" @@ -4019,15 +3917,14 @@ MONDO:0005885 "ICD9:377.30" MONDO:0005885 "SCTID:66760008" MONDO:0005885 "EFO:0007405" MONDO:0005885 "DOID:1210" -MONDO:0005885 "ICD10:H46" MONDO:0005885 "ICD9:377.3" MONDO:0005885 "NCIT:C84950" MONDO:0005885 "ICD9:377.39" -MONDO:0005885 "ICD10:H46.9" MONDO:0005885 "MESH:D009902" +MONDO:0005885 "ICD10CM:H46" MONDO:0005885 "GARD:0007320" MONDO:0003529 "NCIT:C123215" -MONDO:0003529 "ICD10:N10" +MONDO:0003529 "ICD10CM:N10" MONDO:0003529 "SCTID:36689008" MONDO:0003529 "DOID:559" MONDO:0003529 "ICD9:590.1" @@ -4036,9 +3933,8 @@ MONDO:0001465 "ICD9:370.20" MONDO:0001465 "UMLS:C0155074" MONDO:0001465 "SCTID:27019000" MONDO:0001465 "DOID:12196" -MONDO:0001465 "ICD10:H16.10" MONDO:0017111 "Orphanet:269215" -MONDO:0017111 "ICD10:Q03.1" +MONDO:0017111 "ICD10CM:Q03.1" MONDO:0012753 "OMIM:611895" MONDO:0012753 "DOID:0060200" MONDO:0012753 "UMLS:C2678468" @@ -4046,48 +3942,39 @@ MONDO:0012753 "Orphanet:803" MONDO:0012753 "GARD:0010498" MONDO:0012753 "MESH:C567499" MONDO:0004841 "ICD9:593.1" +MONDO:0004841 "ICD10CM:N28.81" MONDO:0004841 "UMLS:C0156259" MONDO:0004841 "SCTID:88531004" -MONDO:0004841 "ICD10:N28.81" MONDO:0004841 "DOID:9622" MONDO:0004841 "NCIT:C122991" MONDO:0100327 "OMIMPS:607748" MONDO:0015424 "Orphanet:1420" MONDO:0015424 "UMLS:CN199519" MONDO:0015424 "GARD:0003225" -MONDO:0015424 "ICD10:Q77.8" +MONDO:0015424 "ICD10CM:Q77.8" HP:0011283 "UMLS:C4023432" MONDO:0008448 "DOID:0080091" MONDO:0008448 "UMLS:C1866785" MONDO:0008448 "MESH:C000598645" MONDO:0008448 "OMIM:182920" -MONDO:0008448 "ICD10:G71.8" MONDO:0008448 "GARD:0008711" MONDO:0008448 "Orphanet:268129" +MONDO:0008448 "ICD10CM:G71.8" MONDO:0008448 "SCTID:765092004" MONDO:0002517 "ICD9:727.06" MONDO:0002517 "DOID:312" -MONDO:0018513 "ICD10:C18.0" -MONDO:0018513 "ICD10:C18.2" -MONDO:0018513 "ICD10:C18.7" -MONDO:0018513 "ICD10:C18.3" -MONDO:0018513 "ICD10:C18.4" -MONDO:0018513 "NCIT:C5490" -MONDO:0018513 "UMLS:CN237518" -MONDO:0018513 "ICD10:C18.8" -MONDO:0018513 "ICD10:C18.5" -MONDO:0018513 "ICD10:C18.6" MONDO:0018513 "UMLS:C1333100" -MONDO:0018513 "Orphanet:423994" -MONDO:0018513 "SCTID:766981007" -MONDO:0018513 "ICD10:C18.9" MONDO:0018513 "DOID:5519" +MONDO:0018513 "SCTID:766981007" +MONDO:0018513 "UMLS:CN237518" +MONDO:0018513 "NCIT:C5490" +MONDO:0018513 "Orphanet:423994" MONDO:0013474 "OMIM:613873" MONDO:0013474 "UMLS:C3151264" MONDO:0013474 "DOID:0110323" -MONDO:0014420 "ICD10:E34.3" MONDO:0014420 "SCTID:721074002" MONDO:0014420 "OMIM:615961" +MONDO:0014420 "ICD10CM:E34.3" MONDO:0014420 "Orphanet:140941" MONDO:0014420 "UMLS:C3900122" MONDO:0007110 "UMLS:C2676137" @@ -4099,7 +3986,6 @@ MONDO:0004724 "SCTID:363380002" MONDO:0004724 "DOID:9173" MONDO:0004724 "ICD9:142.1" MONDO:0004724 "UMLS:C0153360" -MONDO:0004724 "ICD10:C08.0" MONDO:0004724 "NCIT:C8396" MONDO:0010971 "UMLS:C1832949" MONDO:0010971 "SCTID:725905005" @@ -4114,13 +4000,12 @@ HP:0002329 "SNOMEDCT_US:79519003" MONDO:0015082 "Orphanet:1006" NCBITaxon:6183 "GC_ID:1" MONDO:0019545 "Orphanet:90069" -MONDO:0019545 "ICD10:T60.3" +MONDO:0019545 "ICD10CM:T60.3" NCBITaxon:241475 "GC_ID:1" MONDO:0009889 "SCTID:28770003" MONDO:0009889 "Orphanet:731" MONDO:0009889 "DOID:0110861" MONDO:0009889 "UMLS:C0085548" -MONDO:0009889 "ICD10:Q61.1" MONDO:0009889 "MedDRA:10036047" MONDO:0009889 "NCIT:C84579" MONDO:0009889 "GARD:0008378" @@ -4148,7 +4033,7 @@ MONDO:0013240 "OMIM:613370" MONDO:0013240 "SCTID:609577006" MONDO:0013240 "DOID:0111108" MONDO:0013240 "UMLS:C3150617" -MONDO:0009615 "ICD10:E71.1" +MONDO:0009615 "ICD10CM:E71.1" MONDO:0009615 "MESH:C565386" MONDO:0009615 "SCTID:765137006" MONDO:0009615 "Orphanet:308425" @@ -4157,6 +4042,7 @@ MONDO:0009615 "UMLS:C1855100" MONDO:0017629 "Orphanet:306577" MONDO:0017629 "OMIM:615551" MONDO:0017629 "OMIM:133020" +MONDO:0005306 "ICD10CM:M45" MONDO:0005306 "MESH:D013167" MONDO:0005306 "DOID:7147" MONDO:0005306 "ICD9:720.0" @@ -4164,7 +4050,6 @@ MONDO:0005306 "NCIT:C84564" MONDO:0005306 "EFO:0003898" MONDO:0005306 "SCTID:9631008" MONDO:0005306 "Orphanet:825" -MONDO:0005306 "ICD10:M45" MONDO:0021055 "DOID:0050424" MONDO:0021055 "UMLS:CN240755" MONDO:0021055 "ICDO:8220/0" @@ -4173,43 +4058,43 @@ MONDO:0021055 "UMLS:C0032580" MONDO:0021055 "OMIM:175100" MONDO:0021055 "OMIM:608456" MONDO:0021055 "NCIT:C3339" -MONDO:0021055 "ICD10:D12.6" MONDO:0021055 "UMLS:C2713443" MONDO:0021055 "GARD:0006408" MONDO:0021055 "MedDRA:10056981" MONDO:0021055 "OMIMPS:175100" +MONDO:0021055 "ICD10CM:D12.6" MONDO:0021055 "SCTID:72900001" MONDO:0024278 "UMLS:C0033247" MONDO:0024278 "SCTID:418130002" MONDO:0024278 "NCIT:C77952" MONDO:0003393 "UMLS:C0154199" -MONDO:0003393 "ICD10:E32.9" MONDO:0003393 "SCTID:20673009" MONDO:0003393 "ICD9:254.9" MONDO:0003393 "ICD9:254" MONDO:0003393 "DOID:533" MONDO:0003393 "NCIT:C26962" -MONDO:0003393 "ICD10:E32" MONDO:0012345 "SCTID:709416009" -MONDO:0012345 "ICD10:Q80.8" MONDO:0012345 "GARD:0012863" MONDO:0012345 "UMLS:C1853354" MONDO:0012345 "Orphanet:263534" MONDO:0012345 "OMIM:609796" MONDO:0012345 "MESH:C536316" +MONDO:0012345 "ICD10CM:Q80.8" MONDO:0060562 "OMIM:617668" MONDO:0060562 "UMLS:C4540052" +MONDO:0019040 "ICD10CM:Q00-Q99" MONDO:0019040 "NCIT:C34470" MONDO:0019040 "Orphanet:68335" MONDO:0019040 "ICD9:758.89" +MONDO:0019040 "ICD10CM:Q90-Q99" MONDO:0019040 "MESH:D025063" MONDO:0019040 "SCTID:409709004" MONDO:0019040 "DOID:0080014" MONDO:0008856 "GARD:0009185" MONDO:0008856 "UMLS:C4011949" -MONDO:0008856 "OMIM:209950" MONDO:0008856 "Orphanet:319569" MONDO:0008856 "Orphanet:99898" +MONDO:0008856 "OMIM:209950" MONDO:0008856 "UMLS:C3266863" MONDO:0015847 "Orphanet:180151" MONDO:0015847 "UMLS:CN226752" @@ -4218,13 +4103,13 @@ MONDO:0020066 "OMIM:225400" MONDO:0020066 "GARD:0006322" MONDO:0020066 "NCIT:C34568" MONDO:0020066 "DOID:13359" +MONDO:0020066 "ICD10CM:Q79.6" MONDO:0020066 "SCTID:398114001" MONDO:0020066 "Orphanet:98249" MONDO:0020066 "MESH:D004535" MONDO:0020066 "ICD9:756.83" MONDO:0020066 "MedDRA:10014316" MONDO:0020066 "UMLS:C0013720" -MONDO:0020066 "ICD10:Q79.6" MONDO:0001068 "MESH:D010018" MONDO:0001068 "NCIT:C26838" MONDO:0001068 "DOID:10573" @@ -4236,6 +4121,7 @@ MONDO:0001068 "SCTID:4598005" MONDO:0000298 "DOID:0050260" MONDO:0000298 "SCTID:40410004" MONDO:0000298 "UMLS:C0012482" +MONDO:0001244 "ICD10CM:E56.1" MONDO:0001244 "NCIT:C99108" MONDO:0001244 "ICD9:269.0" MONDO:0001244 "SCTID:52675005" @@ -4243,7 +4129,6 @@ MONDO:0001244 "MESH:D014813" MONDO:0001244 "DOID:11249" MONDO:0001244 "UMLS:C0042880" MONDO:0001244 "UMLS:C0272348" -MONDO:0001244 "ICD10:E56.1" MONDO:0022496 "GARD:0000782" MONDO:0021242 "NCIT:C3392" MONDO:0021242 "EFO:1001430" @@ -4269,6 +4154,7 @@ MONDO:0009438 "Orphanet:94088" MONDO:0009438 "OMIM:242050" MONDO:0009438 "MESH:C565475" MONDO:0009438 "UMLS:C1855793" +MONDO:0020381 "ICD10CM:H35.5" MONDO:0020381 "SCTID:725590001" MONDO:0020381 "OMIMPS:169150" MONDO:0020381 "DOID:0060863" @@ -4277,7 +4163,6 @@ MONDO:0020381 "OMIM:169150" MONDO:0020381 "OMIM:610125" MONDO:0020381 "OMIM:608970" MONDO:0020381 "UMLS:CN207254" -MONDO:0020381 "ICD10:H35.5" HP:0011603 "UMLS:C0478012" MONDO:0002685 "NCIT:C124292" MONDO:0002685 "UMLS:C0280623" @@ -4286,17 +4171,17 @@ MONDO:0002685 "DOID:3545" MONDO:0003412 "DOID:5373" MONDO:0003412 "NCIT:C5386" MONDO:0003412 "UMLS:C1335777" -MONDO:0010574 "ICD10:Q23.8" MONDO:0010574 "UMLS:CN206181" MONDO:0010574 "NCIT:C124839" MONDO:0010574 "Orphanet:1568" MONDO:0010574 "OMIM:304340" MONDO:0010574 "DOID:0060800" MONDO:0010574 "Orphanet:85329" -MONDO:0010574 "ICD10:Q87.8" +MONDO:0010574 "ICD10CM:Q23.8" MONDO:0010574 "GARD:0008520" MONDO:0010574 "UMLS:C0796254" MONDO:0010574 "SCTID:719139003" +MONDO:0010574 "ICD10CM:Q87.8" MONDO:0010574 "Orphanet:85335" MONDO:0014390 "OMIM:615896" MONDO:0014390 "UMLS:C4014616" @@ -4317,7 +4202,7 @@ MONDO:0007362 "SCTID:80328002" MONDO:0007362 "ICD9:362.75" MONDO:0007362 "UMLS:C0035334" MONDO:0011976 "OMIM:608154" -MONDO:0011976 "ICD10:Q78.8" +MONDO:0011976 "ICD10CM:Q78.8" MONDO:0011976 "MESH:C564283" MONDO:0011976 "Orphanet:50811" MONDO:0011976 "SCTID:721973006" @@ -4325,7 +4210,6 @@ MONDO:0001630 "NCIT:C34436" MONDO:0001630 "MESH:D015356" MONDO:0001630 "UMLS:C0006123" MONDO:0001630 "SCTID:50821009" -MONDO:0001630 "ICD10:H34.23" MONDO:0001630 "DOID:13094" MONDO:0001630 "ICD9:362.32" MONDO:0043133 "UMLS:C2931525" @@ -4346,37 +4230,33 @@ MONDO:0004022 "UMLS:C0751304" MONDO:0004022 "NCIT:C4960" MONDO:0004022 "MESH:D008579" MONDO:0005580 "Orphanet:99977" +MONDO:0005580 "ICD10CM:C15.3" MONDO:0005580 "SCTID:276804009" -MONDO:0005580 "ICD10:C15.3" MONDO:0005580 "ONCOTREE:ESCC" MONDO:0005580 "DOID:5041" +MONDO:0005580 "ICD10CM:C15.4" MONDO:0005580 "UMLS:C0279626" -MONDO:0005580 "ICD10:C15.4" MONDO:0005580 "DOID:3748" MONDO:0005580 "OMIM:133239" MONDO:0005580 "EFO:0005922" -MONDO:0005580 "ICD10:C15.1" -MONDO:0005580 "ICD10:C15.0" MONDO:0005580 "SCTID:372138000" MONDO:0005580 "MESH:C562729" MONDO:0005580 "NCIT:C4024" MONDO:0017775 "Orphanet:31202" -MONDO:0017775 "ICD10:A24.4" MONDO:0017775 "GARD:0009546" +MONDO:0017775 "ICD10CM:A24.3" MONDO:0017775 "UMLS:C0348971" -MONDO:0017775 "ICD10:A24.9" -MONDO:0017775 "ICD10:A24.1" MONDO:0017775 "NCIT:C128336" MONDO:0017775 "ICD9:025" +MONDO:0017775 "ICD10CM:A24.1" MONDO:0017775 "OMIM:615557" -MONDO:0017775 "ICD10:A24.2" -MONDO:0017775 "ICD10:A24.3" MONDO:0017775 "UMLS:C0348970" MONDO:0017775 "SCTID:186312003" MONDO:0017775 "UMLS:C0025229" MONDO:0017775 "MESH:D008554" MONDO:0017775 "DOID:5052" MONDO:0017775 "MedDRA:10069748" +MONDO:0017775 "ICD10CM:A24.2" MONDO:0008309 "GARD:0010357" MONDO:0008309 "MESH:C566759" MONDO:0008309 "UMLS:C1867770" @@ -4415,7 +4295,7 @@ MONDO:0001012 "UMLS:C1305875" MONDO:0001012 "SCTID:23260002" MONDO:0001012 "ICD9:610.2" MONDO:0001012 "DOID:10352" -MONDO:0001012 "ICD10:N60.2" +MONDO:0001012 "ICD10CM:N60.2" MONDO:0017408 "UMLS:C4053506" MONDO:0017408 "Orphanet:293987" MONDO:0017408 "GARD:0010407" @@ -4428,7 +4308,7 @@ MONDO:0004529 "NCIT:C6583" MONDO:0004529 "DOID:8305" MONDO:0004529 "UMLS:C1335063" HP:0002024 "UMLS:C3714745" -MONDO:0019838 "ICD10:E23.6" +MONDO:0019838 "ICD10CM:E23.6" MONDO:0019838 "Orphanet:95512" MONDO:0060564 "UMLS:C4522164" MONDO:0060564 "Orphanet:528105" @@ -4441,10 +4321,9 @@ MONDO:0009217 "OMIM:227850" MONDO:0009217 "MESH:C536855" MONDO:0011482 "UMLS:C1858154" MONDO:0011482 "OMIM:604765" -MONDO:0011482 "ICD10:I42.0" MONDO:0011482 "MESH:C565752" +MONDO:0011482 "ICD10CM:I42.0" MONDO:0011482 "DOID:0110431" -MONDO:0011568 "ICD10:H90.3" MONDO:0011568 "UMLS:C1854158" MONDO:0011568 "Orphanet:90635" MONDO:0011568 "OMIM:605583" @@ -4456,12 +4335,11 @@ MONDO:0013682 "UMLS:C3280439" MONDO:0033282 "UMLS:CN388855" MONDO:0033282 "DOID:0080274" MONDO:0033282 "OMIM:617613" -MONDO:0015849 "Orphanet:180157" -MONDO:0015849 "ICD10:Q52.1" -MONDO:0015849 "HP:0008740" HP:0002360 "SNOMEDCT_US:53888004" HP:0002360 "UMLS:C0037317" -MONDO:0005992 "ICD10:B75" +MONDO:0015849 "ICD10CM:Q52.1" +MONDO:0015849 "HP:0008740" +MONDO:0015849 "Orphanet:180157" MONDO:0005992 "EFO:0007520" MONDO:0005992 "DOID:9784" MONDO:0005992 "ICD9:124" @@ -4474,7 +4352,6 @@ HP:0001943 "UMLS:C0020615" HP:0001943 "MSH:D007003" HP:0001943 "SNOMEDCT_US:302866003" MONDO:0004939 "NCIT:C34657" -MONDO:0004939 "ICD10:F16.2" MONDO:0004939 "DOID:9977" MONDO:0004939 "ICD9:304.50" MONDO:0004939 "SCTID:38247002" @@ -4486,9 +4363,9 @@ MONDO:0015626 "MESH:D002607" MONDO:0015626 "ICD9:356.1" MONDO:0015626 "Orphanet:166" MONDO:0015626 "OMIMPS:118220" +MONDO:0015626 "ICD10CM:G60.0" MONDO:0015626 "GARD:0006034" MONDO:0015626 "DOID:10595" -MONDO:0015626 "ICD10:G60.0" MONDO:0015626 "MedDRA:10034699" MONDO:0015626 "UMLS:C0007959" MONDO:0002453 "MESH:D012181" @@ -4498,27 +4375,28 @@ MONDO:0018849 "SCTID:196286005" MONDO:0018849 "DOID:4154" MONDO:0018849 "Orphanet:49042" MONDO:0018849 "MESH:D003811" -MONDO:0018849 "ICD10:K00.5" -MONDO:0018849 "GARD:0006258" MONDO:0018849 "MedDRA:10054013" +MONDO:0018849 "GARD:0006258" +MONDO:0018849 "ICD10CM:K00.5" MONDO:0018849 "NCIT:C84667" MONDO:0018849 "HP:0000703" MONDO:0018849 "OMIM:125490" MONDO:0018849 "ICD9:520.5" MONDO:0018849 "UMLS:C0011436" MONDO:0018849 "OMIM:125500" -MONDO:0018051 "ICD10:L98.6" +MONDO:0018051 "ICD10CM:L98.6" MONDO:0018051 "Orphanet:33314" MONDO:0018051 "GARD:0006940" MONDO:0018051 "UMLS:C0580181" +MONDO:0005172 "ICD10CM:M91-M94" MONDO:0005172 "UMLS:C0263661" MONDO:0005172 "SCTID:88230002" MONDO:0005172 "EFO:0002461" -MONDO:0017324 "ICD10:E83.3" MONDO:0017324 "UMLS:CN202957" MONDO:0017324 "OMIM:613312" MONDO:0017324 "DOID:0050949" MONDO:0017324 "SCTID:90505000" +MONDO:0017324 "ICD10CM:E83.3" MONDO:0017324 "Orphanet:289176" MONDO:0017324 "OMIM:241520" MONDO:0010166 "UMLS:C1848649" @@ -4540,7 +4418,6 @@ HP:0002664 "NCIT:C3262" MONDO:0000671 "HP:0010525" MONDO:0000671 "DOID:0060141" MONDO:0006574 "MESH:D008068" -MONDO:0006574 "ICD10:E88.2" MONDO:0006574 "ICD9:272.8" MONDO:0006574 "DOID:3153" MONDO:0006574 "Wikipedia:Lipomatosis" @@ -4548,40 +4425,40 @@ MONDO:0006574 "NCIT:C3193" MONDO:0006574 "UMLS:C0023801" MONDO:0006574 "EFO:1000728" MONDO:0006574 "SCTID:402693001" +MONDO:0017292 "ICD10CM:C34.3" MONDO:0017292 "UMLS:C1708045" MONDO:0017292 "ICDO:8333/3" MONDO:0017292 "Orphanet:284395" -MONDO:0017292 "ICD10:C34.3" -MONDO:0017292 "ICD10:C34.2" +MONDO:0017292 "ICD10CM:C34.1" +MONDO:0017292 "ICD10CM:C34.2" MONDO:0017292 "NCIT:C45509" MONDO:0017292 "UMLS:CN202865" MONDO:0017292 "UMLS:C1266047" -MONDO:0017292 "ICD10:C34.8" -MONDO:0017292 "ICD10:C34.1" +MONDO:0017292 "ICD10CM:C34.8" MONDO:0015980 "UMLS:CN200580" MONDO:0015980 "Orphanet:183731" CL:1000410 "FMA:67106" MONDO:0017207 "UMLS:C1334465" MONDO:0017207 "Orphanet:279911" MONDO:0017207 "NCIT:C7185" +MONDO:0020927 "OMIMPS:174200" MONDO:0018765 "SCTID:722849002" MONDO:0018765 "UMLS:C4302263" MONDO:0018765 "Orphanet:468635" MONDO:0014329 "Orphanet:1344" MONDO:0014329 "UMLS:C3810401" MONDO:0014329 "OMIM:615745" -MONDO:0020927 "OMIMPS:174200" MONDO:0010353 "OMIM:300519" MONDO:0010353 "Orphanet:85321" MONDO:0010353 "SCTID:721087008" MONDO:0010353 "MESH:C564495" -MONDO:0010353 "ICD10:Q87.8" +MONDO:0010353 "ICD10CM:Q87.8" MONDO:0010353 "DOID:0060830" MONDO:0009950 "NCIT:C99037" MONDO:0009950 "SCTID:124331002" -MONDO:0009950 "ICD10:D55.2" MONDO:0009950 "MESH:C564858" MONDO:0009950 "GARD:0007514" +MONDO:0009950 "ICD10CM:D55.2" MONDO:0009950 "DOID:0111077" MONDO:0009950 "Orphanet:766" MONDO:0009950 "UMLS:C0340968" @@ -4595,7 +4472,7 @@ MONDO:0044314 "Orphanet:791" MONDO:0044314 "UMLS:C4479481" MONDO:0011804 "DOID:0110116" MONDO:0011804 "GARD:0009796" -MONDO:0011804 "ICD10:D47.9" +MONDO:0011804 "ICD10CM:D47.9" MONDO:0011804 "Orphanet:275517" MONDO:0011804 "SCTID:722290008" MONDO:0011804 "OMIM:607271" @@ -4603,8 +4480,8 @@ MONDO:0021086 "NCIT:C3057" MONDO:0021086 "UMLS:C0017570" MONDO:0021086 "SCTID:126792007" MONDO:0017495 "Orphanet:295087" -MONDO:0017495 "ICD10:Q71.1" -MONDO:0017495 "ICD10:Q71.13" +MONDO:0017495 "ICD10CM:Q71.1" +MONDO:0017495 "ICD10CM:Q71.13" MONDO:0011978 "MESH:C535470" MONDO:0011978 "OMIM:608158" MONDO:0011978 "UMLS:C1842463" @@ -4621,17 +4498,17 @@ MONDO:0006795 "MESH:D006971" MONDO:0006795 "MedDRA:10020769" MONDO:0006795 "UMLS:C0020532" MONDO:0006795 "SCTID:58381000" +MONDO:0006795 "ICD10CM:D73.1" MONDO:0006795 "DOID:6376" MONDO:0006795 "NCIT:C34714" MONDO:0006795 "HP:0001971" MONDO:0006795 "EFO:1000975" -MONDO:0006795 "ICD10:D73.1" MONDO:0022901 "UMLS:C0341116" MONDO:0022901 "GARD:0000203" MONDO:0007741 "Orphanet:2190" -MONDO:0007741 "ICD10:Q62.0" MONDO:0007741 "UMLS:C0266316" MONDO:0007741 "MedDRA:10050975" +MONDO:0007741 "ICD10CM:Q62.0" MONDO:0007741 "NCIT:C102979" MONDO:0007741 "SCTID:16297002" MONDO:0007741 "ICD9:753.29" @@ -4639,15 +4516,14 @@ MONDO:0002002 "ICD9:244.0" MONDO:0002002 "SCTID:27059002" MONDO:0002002 "DOID:1458" MONDO:0002002 "UMLS:C0154157" -MONDO:0002002 "ICD10:E89.0" MONDO:0005519 "DOID:4919" -MONDO:0005519 "ICD10:C65" MONDO:0005519 "UMLS:C0153618" MONDO:0005519 "SCTID:363457009" MONDO:0005519 "NCIT:C6142" MONDO:0005519 "ICD9:189.1" MONDO:0005519 "UMLS:C1335749" MONDO:0005519 "EFO:0005582" +MONDO:0005519 "ICD10CM:C65" MONDO:0007719 "UMLS:C0235833" MONDO:0007719 "OMIM:142340" MONDO:0007719 "Orphanet:2140" @@ -4661,7 +4537,6 @@ MONDO:0042981 "HP:0001650" MONDO:0042981 "SCTID:60573004" MONDO:0042981 "GARD:0005830" MONDO:0013114 "OMIM:613074" -MONDO:0013114 "ICD10:H90.3" MONDO:0013114 "DOID:0110576" MONDO:0012558 "OMIM:610797" MONDO:0012558 "UMLS:C1835830" @@ -4673,22 +4548,21 @@ MONDO:0006982 "ICD9:245.1" MONDO:0006982 "EFO:1001194" MONDO:0006982 "MESH:D013968" MONDO:0006982 "UMLS:C0040149" +MONDO:0006982 "ICD10CM:E06.1" MONDO:0006982 "MedDRA:10042298" MONDO:0006982 "SCTID:428041004" MONDO:0006982 "DOID:7165" -MONDO:0006982 "ICD10:E06.1" HP:0000964 "SNOMEDCT_US:281104002" HP:0000964 "UMLS:C0013595" HP:0000964 "MSH:D004485" HP:0000964 "SNOMEDCT_US:43116000" MONDO:0007624 "GARD:0002347" MONDO:0007624 "Orphanet:2047" -MONDO:0007624 "ICD10:Q87.8" MONDO:0007624 "MESH:C537066" MONDO:0007624 "OMIM:136300" MONDO:0007624 "UMLS:C0343108" MONDO:0007624 "SCTID:239056006" -MONDO:0014739 "ICD10:H90.3" +MONDO:0007624 "ICD10CM:Q87.8" MONDO:0014739 "OMIM:616705" MONDO:0014739 "DOID:0110539" MONDO:0014739 "UMLS:C4084709" @@ -4698,15 +4572,14 @@ MONDO:0003443 "UMLS:C1335329" MONDO:0003443 "NCIT:C6192" MONDO:0003443 "UMLS:C1334282" MONDO:0015596 "Orphanet:163924" -MONDO:0015596 "ICD10:G04.8" +MONDO:0015596 "ICD10CM:G04.8" MONDO:0015596 "SCTID:764998005" -MONDO:0002420 "ICD10:F95.9" MONDO:0002420 "DOID:2769" +MONDO:0002420 "ICD10CM:F90-98" MONDO:0002420 "ICD9:307.20" MONDO:0002420 "ICD9:307.2" MONDO:0002420 "MESH:D013981" MONDO:0002420 "SCTID:568005" -MONDO:0002420 "ICD10:F95" HP:0012828 "SNOMEDCT_US:24484000" HP:0012828 "UMLS:C0205082" CL:0002319 "CALOHA:TS-2040" @@ -4714,8 +4587,8 @@ CL:0002319 "FMA:70333" MONDO:0011156 "MESH:C535934" MONDO:0011156 "Orphanet:172" MONDO:0011156 "OMIM:615878" -MONDO:0011156 "ICD10:K76.8" MONDO:0011156 "Orphanet:79304" +MONDO:0011156 "ICD10CM:K76.8" MONDO:0011156 "OMIM:601847" MONDO:0011156 "DOID:0070222" MONDO:0011156 "UMLS:CN205889" @@ -4723,27 +4596,27 @@ MONDO:0011156 "GARD:0001288" MONDO:0013999 "Orphanet:313800" MONDO:0013999 "OMIM:614979" MONDO:0013999 "UMLS:C3554278" -MONDO:0019136 "ICD10:B46.0" -MONDO:0019136 "ICD10:B46.3" +MONDO:0019136 "ICD10CM:B46.5" MONDO:0019136 "MESH:D009091" -MONDO:0019136 "ICD10:B46.4" +MONDO:0019136 "ICD10CM:B46.0" MONDO:0019136 "MESH:D020096" -MONDO:0019136 "ICD10:B46.9" MONDO:0019136 "EFO:0007380" +MONDO:0019136 "ICD10CM:B46.4" MONDO:0019136 "UMLS:C0043541" -MONDO:0019136 "ICD10:B46" -MONDO:0019136 "ICD10:B46.2" +MONDO:0019136 "ICD10CM:B46.9" MONDO:0019136 "NCIT:C77212" MONDO:0019136 "MedDRA:10061418" +MONDO:0019136 "ICD10CM:B46" MONDO:0019136 "SCTID:59277005" -MONDO:0019136 "ICD10:B46.8" MONDO:0019136 "MedDRA:10028098" -MONDO:0019136 "ICD10:B46.1" +MONDO:0019136 "ICD10CM:B46.3" +MONDO:0019136 "ICD10CM:B46.8" MONDO:0019136 "DOID:8485" MONDO:0019136 "SCTID:76627001" MONDO:0019136 "Orphanet:73263" -MONDO:0019136 "ICD10:B46.5" MONDO:0019136 "ICD9:117.7" +MONDO:0019136 "ICD10CM:B46.1" +MONDO:0019136 "ICD10CM:B46.2" MONDO:0019136 "GARD:0010224" MONDO:0026729 "OMIM:301031" MONDO:0006006 "SCTID:403904009" @@ -4763,7 +4636,6 @@ MONDO:0001661 "ICD9:362.03" MONDO:0001661 "SCTID:390834004" MONDO:0007564 "GARD:0009452" MONDO:0007564 "EFO:0009082" -MONDO:0007564 "ICD10:C44.6" MONDO:0007564 "UMLS:C0853031" MONDO:0007564 "NCIT:C7368" MONDO:0007564 "SCTID:274901004" @@ -4771,7 +4643,8 @@ MONDO:0007564 "UMLS:C0206711" MONDO:0007564 "Orphanet:91414" MONDO:0007564 "OMIM:132600" MONDO:0007564 "ICDO:8110/0" -MONDO:0007564 "ICD10:C44.3" +MONDO:0007564 "ICD10CM:C44.6" +MONDO:0007564 "ICD10CM:C44.3" MONDO:0007564 "MESH:D018296" MONDO:0007564 "MedDRA:10035040" MONDO:0007564 "DOID:5374" @@ -4783,15 +4656,15 @@ MONDO:0003928 "NCIT:C40175" MONDO:0060707 "UMLS:CN244927" MONDO:0060707 "OMIM:617982" MONDO:0060707 "Orphanet:580940" -MONDO:0019554 "ICD10:E88.1" +MONDO:0019554 "ICD10CM:E88.1" MONDO:0019554 "Orphanet:90158" MONDO:0019554 "UMLS:CN227650" MONDO:0004048 "UMLS:C1334151" MONDO:0004048 "DOID:6948" MONDO:0004048 "NCIT:C5256" MONDO:0018357 "Orphanet:398097" -MONDO:0018357 "ICD10:D68.6" MONDO:0018357 "UMLS:CN226098" +MONDO:0018357 "ICD10CM:D68.6" MONDO:0017103 "Orphanet:269190" MONDO:0017103 "UMLS:CN227080" MONDO:0014909 "DOID:0110610" @@ -4817,8 +4690,8 @@ MONDO:0003198 "EFO:1000532" MONDO:0003198 "NCIT:C7888" MONDO:0003198 "GARD:0013090" MONDO:0003198 "UMLS:C0278803" -MONDO:0003198 "ICD10:D01.4" MONDO:0003198 "DOID:4906" +MONDO:0003198 "ICD10CM:D01.4" MONDO:0003198 "Orphanet:104075" MONDO:0023196 "GARD:0002389" MONDO:0014486 "DOID:0070060" @@ -4831,13 +4704,13 @@ MONDO:0044776 "OMIM:612885" MONDO:0019741 "Orphanet:93587" MONDO:0019741 "UMLS:CN206655" MONDO:0015145 "Orphanet:102006" -MONDO:0008479 "ICD10:Q77.8" MONDO:0008479 "GARD:0004991" MONDO:0008479 "UMLS:C0432221" MONDO:0008479 "SCTID:254078005" MONDO:0008479 "MESH:C535793" MONDO:0008479 "Orphanet:93315" MONDO:0008479 "OMIM:184255" +MONDO:0008479 "ICD10CM:Q77.8" MONDO:0043975 "UMLS:C0238015" MONDO:0043975 "SCTID:129618003" MONDO:0043975 "MESH:D020211" @@ -4847,7 +4720,6 @@ MONDO:0005489 "OMIM:600202" MONDO:0005489 "SCTID:52824009" MONDO:0005489 "OMIM:606616" MONDO:0005489 "EFO:0005424" -MONDO:0005489 "ICD10:F81.0" MONDO:0005489 "OMIM:608995" MONDO:0005489 "OMIM:604254" MONDO:0005489 "OMIM:606896" @@ -4860,22 +4732,23 @@ MONDO:0030326 "OMIM:619425" MONDO:0008051 "Orphanet:2593" MONDO:0008051 "DOID:0080089" MONDO:0008051 "OMIM:615883" +MONDO:0008051 "ICD10CM:G71.2" MONDO:0008051 "OMIM:160565" MONDO:0008051 "GARD:0003884" -MONDO:0008051 "ICD10:G71.2" MONDO:0008051 "OMIMPS:160565" CL:0000513 "FMA:84797" MONDO:0006435 "EFO:1000554" MONDO:0006435 "UMLS:C1336521" MONDO:0006435 "NCIT:C5940" +MONDO:8000030 "Orphanet:377791" MONDO:0008865 "UMLS:C1859486" MONDO:0008865 "SCTID:312927001" MONDO:0008865 "MESH:C535440" +MONDO:0008865 "ICD10CM:H15.5" MONDO:0008865 "DOID:0050664" MONDO:0008865 "GARD:0010050" MONDO:0008865 "Orphanet:41751" MONDO:0008865 "OMIM:210370" -MONDO:0008865 "ICD10:H15.5" MONDO:0009811 "UMLS:C1850142" MONDO:0009811 "MESH:C564917" MONDO:0009811 "OMIM:259650" @@ -4883,8 +4756,12 @@ HP:0100806 "MSH:D018805" HP:0100806 "UMLS:C0036690" PO:0004010 "CL:0000034" PO:0004010 "PO_GIT:272" +MONDO:0021251 "NCIT:C3012" +MONDO:0021251 "ICD9:239.5" +MONDO:0021251 "SCTID:123844007" +MONDO:0021251 "MESH:D016889" +MONDO:0015028 "ICD10CM:Q98.8" MONDO:0015028 "ICD9:758.81" -MONDO:0015028 "ICD10:Q98.8" MONDO:0015028 "MedDRA:10048230" MONDO:0015028 "NCIT:C89801" MONDO:0015028 "GARD:0005677" @@ -4896,10 +4773,6 @@ MONDO:0009083 "GARD:0001460" MONDO:0009083 "Orphanet:3216" MONDO:0009083 "MESH:C565644" MONDO:0009083 "UMLS:C1857341" -MONDO:0021251 "NCIT:C3012" -MONDO:0021251 "ICD9:239.5" -MONDO:0021251 "SCTID:123844007" -MONDO:0021251 "MESH:D016889" MONDO:0000190 "HP:0001663" MONDO:0000190 "UMLS:C0042510" MONDO:0000190 "NCIT:C50799" @@ -4910,14 +4783,15 @@ MONDO:0000190 "ICD9:427.41" MONDO:0016586 "SCTID:397016004" MONDO:0016586 "NCIT:C9235" MONDO:0016586 "Orphanet:2467" +MONDO:0016586 "ICD10CM:C96.2" MONDO:0016586 "GARD:0008616" -MONDO:0016586 "ICD10:C96.2" MONDO:0016586 "UMLS:C0221013" MONDO:0016586 "ONCOTREE:SM" MONDO:0016586 "DOID:349" MONDO:0016586 "MedDRA:10042949" MONDO:0007813 "UMLS:C0432306" MONDO:0007813 "SCTID:254169002" +MONDO:0007813 "ICD10CM:Q80.8" MONDO:0007813 "UMLS:C1838440" MONDO:0007813 "DOID:0060877" MONDO:0007813 "GARD:0002966" @@ -4925,10 +4799,9 @@ MONDO:0007813 "MESH:D053560" MONDO:0007813 "NCIT:C84777" MONDO:0007813 "OMIM:146800" MONDO:0007813 "Orphanet:455" -MONDO:0007813 "ICD10:Q80.8" MONDO:0032806 "OMIM:618546" MONDO:0017097 "Orphanet:268980" -MONDO:0017097 "ICD10:Q04.8" +MONDO:0017097 "ICD10CM:Q04.8" MONDO:0017097 "UMLS:CN202454" MONDO:0054866 "UMLS:C2721586" MONDO:0054866 "SCTID:735686002" @@ -4937,22 +4810,21 @@ MONDO:0019962 "DOID:10011" MONDO:0019962 "UMLS:C1336753" MONDO:0019962 "NCIT:C5265" MONDO:0019962 "Orphanet:97285" -MONDO:0019962 "ICD10:C85.7" MONDO:0015785 "UMLS:CN200367" -MONDO:0015785 "ICD10:Q87.1" +MONDO:0015785 "ICD10CM:Q87.1" MONDO:0015785 "Orphanet:177907" MONDO:0002655 "DOID:3450" MONDO:0700064 "NCIT:C2873" -MONDO:0022653 "GARD:0001107" +MONDO:0007167 "ICD10CM:Q78.8" MONDO:0007167 "SCTID:725141006" MONDO:0007167 "MESH:C535396" MONDO:0007167 "GARD:0009287" MONDO:0007167 "OMIM:108720" -MONDO:0007167 "ICD10:Q78.8" MONDO:0007167 "Orphanet:1190" +MONDO:0022653 "GARD:0001107" FOODON:03400004 "http://www.langual.org/langual_thesaurus.asp?termid=A0004" +MONDO:0017964 "ICD10CM:Q56.2" MONDO:0017964 "UMLS:CN227228" -MONDO:0017964 "ICD10:Q56.2" MONDO:0017964 "Orphanet:325099" NCBITaxon:7509 "GC_ID:1" MONDO:0018910 "OMIMPS:203100" @@ -4969,25 +4841,24 @@ MONDO:0018910 "MESH:D016115" MONDO:0018910 "OMIM:606952" MONDO:0018910 "DOID:0050632" MONDO:0018910 "GARD:0010958" +MONDO:0018910 "ICD10CM:E70.3" MONDO:0018910 "OMIM:203200" -MONDO:0018910 "ICD10:E70.3" MONDO:0018910 "OMIM:203290" MONDO:0009928 "MedDRA:10037315" -MONDO:0009928 "ICD10:J84.0" MONDO:0009928 "UMLS:C0155912" +MONDO:0009928 "ICD10CM:J84.02" MONDO:0009928 "DOID:12117" MONDO:0009928 "SCTID:87153008" -MONDO:0009928 "ICD10:J84.02" MONDO:0009928 "GARD:0011894" MONDO:0009928 "ICD9:516.2" MONDO:0009928 "OMIM:265100" MONDO:0009928 "MESH:C562405" +MONDO:0009928 "ICD10CM:J84.0" MONDO:0009928 "Orphanet:60025" MONDO:0012337 "OMIM:609745" MONDO:0012337 "UMLS:C1857852" MONDO:0012337 "MESH:C565724" MONDO:0000308 "DOID:0050292" -MONDO:0012723 "ICD10:H35.5" MONDO:0012723 "OMIM:611755" MONDO:0012723 "MESH:C565720" MONDO:0012723 "GARD:0010487" @@ -5000,15 +4871,18 @@ NCBITaxon:436492 "GC_ID:1" MONDO:0021641 "MESH:D002044" MONDO:0021641 "EFO:0007188" MONDO:0021641 "SCTID:105632002" -MONDO:0005385 "NCIT:C26693" -MONDO:0005385 "EFO:0004264" -MONDO:0005385 "UMLS:C0042373" -MONDO:0005385 "NCIT:C35117" MONDO:0005385 "SCTID:27550009" +MONDO:0005385 "ICD10CM:I70-I79" +MONDO:0005385 "ICD10CM:I26-I28" MONDO:0005385 "MESH:D014652" -MONDO:0005385 "ICD10:I72.9" +MONDO:0005385 "UMLS:C0042373" +MONDO:0005385 "ICD10CM:I95-I99" MONDO:0005385 "ICD9:442.9" +MONDO:0005385 "NCIT:C26693" MONDO:0005385 "DOID:178" +MONDO:0005385 "NCIT:C35117" +MONDO:0005385 "ICD10CM:I00-I99" +MONDO:0005385 "EFO:0004264" MONDO:0016952 "Orphanet:262833" MONDO:0016952 "UMLS:C0795800" MONDO:0016952 "NCIT:C36521" @@ -5019,35 +4893,35 @@ MONDO:0010379 "MESH:C563156" MONDO:0010379 "GARD:0003531" MONDO:0010379 "DOID:0060693" MONDO:0010379 "SCTID:718210003" -MONDO:0010379 "ICD10:E70.8" +MONDO:0010379 "ICD10CM:E70.8" MONDO:0010379 "OMIM:300615" MONDO:0014195 "Orphanet:369970" MONDO:0014195 "UMLS:C3809567" -MONDO:0014195 "ICD10:Q15.8" MONDO:0014195 "OMIM:615458" +MONDO:0014195 "ICD10CM:Q15.8" MONDO:0009141 "Orphanet:99657" -MONDO:0009141 "ICD10:G24.1" +MONDO:0009141 "ICD10CM:G24.1" MONDO:0009141 "OMIM:224500" MONDO:0009141 "DOID:0090038" MONDO:0009141 "NCIT:C123415" MONDO:0009141 "GARD:0002028" MONDO:0009141 "MESH:C538006" MONDO:0009141 "UMLS:C1857093" -MONDO:0020444 "ICD10:Q26.8" +MONDO:0020444 "ICD10CM:Q26.8" MONDO:0020444 "Orphanet:99113" MONDO:0020444 "SCTID:766756002" NCBITaxon:42862 "PMID:11321078" NCBITaxon:42862 "PMID:12508865" NCBITaxon:42862 "GC_ID:11" NCBITaxon:42862 "PMID:8904435" +MONDO:0002876 "ICD10CM:C53.0" MONDO:0002876 "Orphanet:213792" -MONDO:0002876 "ICD10:C53.8" MONDO:0002876 "DOID:4111" MONDO:0002876 "UMLS:C1516426" MONDO:0002876 "UMLS:CN201069" MONDO:0002876 "NCIT:C40229" -MONDO:0002876 "ICD10:C53.0" -MONDO:0002876 "ICD10:C53.1" +MONDO:0002876 "ICD10CM:C53.1" +MONDO:0002876 "ICD10CM:C53.8" MONDO:0002876 "SCTID:764847000" FOODON:03400644 "http://www.langual.org/langual_thesaurus.asp?termid=A0644" MONDO:0003822 "UMLS:C1518358" @@ -5061,7 +4935,7 @@ MONDO:0010615 "SCTID:234533006" MONDO:0010615 "Orphanet:631" MONDO:0010615 "OMIM:300123" MONDO:0010615 "OMIM:307200" -MONDO:0010615 "ICD10:E23.0" +MONDO:0010615 "ICD10CM:E23.0" MONDO:0010615 "GARD:0003921" MONDO:0010615 "DOID:0060875" MONDO:0010615 "MESH:C537149" @@ -5069,10 +4943,10 @@ MONDO:0001749 "ICD9:366.15" MONDO:0001749 "DOID:13574" MONDO:0001749 "SCTID:78875003" MONDO:0001749 "UMLS:C0154980" +MONDO:0019344 "ICD10CM:M35.8" MONDO:0019344 "ICD9:279.49" MONDO:0019344 "UMLS:C2609059" MONDO:0019344 "EFO:1001982" -MONDO:0019344 "ICD10:M35.8" MONDO:0019344 "GARD:0000735" MONDO:0019344 "SCTID:445187004" MONDO:0019344 "Orphanet:81" @@ -5082,7 +4956,7 @@ MONDO:0000884 "NCIT:C84277" MONDO:0000884 "DOID:0080167" MONDO:0016178 "Orphanet:209010" MONDO:0018147 "UMLS:CN204545" -MONDO:0018147 "ICD10:H35.5" +MONDO:0018147 "ICD10CM:H35.5" MONDO:0018147 "Orphanet:353351" MONDO:0021524 "NCIT:C4406" MONDO:0021524 "ICD9:210.4" @@ -5090,14 +4964,13 @@ MONDO:0021524 "UMLS:C0345566" MONDO:0021524 "SCTID:92039003" MONDO:0004640 "DOID:8680" MONDO:0004640 "SCTID:2043009" -MONDO:0004640 "ICD10:K29.2" MONDO:0004640 "UMLS:C0156076" MONDO:0004640 "NCIT:C26977" +MONDO:0004640 "ICD10CM:K29.2" MONDO:0004640 "ICD9:535.3" MONDO:0004640 "ICD9:535.30" MONDO:0016835 "Orphanet:261229" MONDO:0016835 "UMLS:CN202171" -MONDO:0016835 "ICD10:Q92.3" MONDO:0044965 "UMLS:C3661988" MONDO:0044965 "SCTID:609618002" MONDO:0032670 "OMIM:618313" @@ -5106,7 +4979,6 @@ MONDO:0001936 "SCTID:91612009" MONDO:0001936 "DOID:14287" MONDO:0001936 "ICD9:379.06" MONDO:0001936 "UMLS:C0155356" -MONDO:0001936 "ICD10:H15.02" MONDO:0044870 "SCTID:433493000" MONDO:0044870 "UMLS:C1719382" HP:0012531 "MSH:D010146" @@ -5117,16 +4989,16 @@ MONDO:0010050 "UMLS:C0599464" MONDO:0010050 "MESH:C563024" MONDO:0012250 "MESH:C563740" MONDO:0012250 "UMLS:C1836336" +MONDO:0012250 "ICD10CM:G60.0" MONDO:0012250 "OMIM:609311" MONDO:0012250 "SCTID:715802008" MONDO:0012250 "DOID:0110192" MONDO:0012250 "GARD:0012442" -MONDO:0012250 "ICD10:G60.0" MONDO:0012250 "Orphanet:99954" FOODON:03460119 "http://www.langual.org/langual_thesaurus.asp?termid=H0119" MONDO:0016365 "Orphanet:2207" -MONDO:0016365 "ICD10:E21.0" MONDO:0016365 "UMLS:CN201220" +MONDO:0016365 "ICD10CM:E21.0" MONDO:0016365 "GARD:0002837" MONDO:0004256 "NCIT:C5298" MONDO:0004256 "DOID:7515" @@ -5139,16 +5011,15 @@ MONDO:0008761 "MESH:C565963" MONDO:0054669 "OMIM:617695" MONDO:0003059 "UMLS:C0005396" MONDO:0003059 "NCIT:C2898" -MONDO:0003059 "ICD10:C24.0" MONDO:0003059 "ICD9:156.1" MONDO:0003059 "DOID:4606" MONDO:0015217 "Orphanet:108985" NCBITaxon:194440 "GC_ID:1" MONDO:0016775 "UMLS:C0406369" MONDO:0016775 "Orphanet:254478" -MONDO:0016775 "ICD10:L43.8" MONDO:0016775 "GARD:0012677" MONDO:0016775 "SCTID:238653005" +MONDO:0016775 "ICD10CM:L43.8" MONDO:0017417 "SCTID:763891005" MONDO:0017417 "OMIM:208540" MONDO:0017417 "Orphanet:294415" @@ -5156,16 +5027,14 @@ MONDO:0017417 "OMIMPS:208540" MONDO:0017417 "DOID:0060259" MONDO:0017417 "UMLS:C2673883" MONDO:0017417 "OMIM:615415" -MONDO:0002258 "ICD9:478.20" +MONDO:0002258 "ICD9:472" +MONDO:0002258 "DOID:2275" MONDO:0002258 "SCTID:405737000" -MONDO:0002258 "ICD10:J02" +MONDO:0002258 "UMLS:C0031350" MONDO:0002258 "NCIT:C26851" -MONDO:0002258 "DOID:2275" -MONDO:0002258 "ICD10:J02.9" -MONDO:0002258 "MESH:D010612" MONDO:0002258 "ICD9:462" -MONDO:0002258 "ICD9:472" -MONDO:0002258 "UMLS:C0031350" +MONDO:0002258 "MESH:D010612" +MONDO:0002258 "ICD9:478.20" MONDO:0024508 "UMLS:C0393729" MONDO:0024508 "OMIM:613339" MONDO:0024508 "Orphanet:166412" @@ -5180,7 +5049,7 @@ MONDO:0011491 "Orphanet:307" MONDO:0011491 "DOID:0111321" MONDO:0008029 "NCIT:C126688" MONDO:0008029 "UMLS:C1834674" -MONDO:0008029 "ICD10:G71.0" +MONDO:0008029 "ICD10CM:G71.0" MONDO:0008029 "MESH:C535436" MONDO:0008029 "SCTID:718572004" MONDO:0008029 "OMIM:616471" @@ -5197,7 +5066,6 @@ NCBITaxon:11019 "GC_ID:1" MONDO:0018880 "UMLS:CN205231" MONDO:0018880 "Orphanet:52662" MONDO:0008644 "UMLS:CN205308" -MONDO:0008644 "ICD10:Q93.81" MONDO:0008644 "Orphanet:567" MONDO:0008644 "OMIM:192430" MONDO:0008644 "MESH:D004062" @@ -5206,19 +5074,18 @@ MONDO:0008644 "DOID:12583" NCBITaxon:577468 "GC_ID:11" MONDO:0014440 "MESH:C565921" MONDO:0014440 "GARD:0010211" -MONDO:0014440 "ICD10:Q87.89" MONDO:0014440 "UMLS:C1859570" MONDO:0014440 "DOID:0110134" MONDO:0014440 "OMIM:615989" MONDO:0014440 "EFO:0009023" MONDO:0016658 "SCTID:716381003" MONDO:0016658 "Orphanet:251071" -MONDO:0016658 "ICD10:Q93.5" +MONDO:0016658 "ICD10CM:Q93.5" MONDO:0016658 "UMLS:CN201888" MONDO:0016658 "GARD:0003769" MONDO:0016658 "MESH:C537827" +MONDO:0018021 "ICD10CM:H90.5" MONDO:0018021 "UMLS:CN204237" -MONDO:0018021 "ICD10:H90.5" MONDO:0018021 "Orphanet:330029" MONDO:0017604 "EFO:1000630" MONDO:0017604 "ICDO:9699/3" @@ -5232,9 +5099,7 @@ MONDO:0017604 "NCIT:C4341" MONDO:0017604 "UMLS:C1367654" MONDO:0000476 "MESH:D020821" MONDO:0000476 "UMLS:C0013423" -MONDO:0000476 "ICD10:G24.2" MONDO:0000476 "ICD9:333.6" -MONDO:0000476 "ICD10:G24.1" MONDO:0000476 "ICD9:333.89" MONDO:0000476 "SCTID:425492002" MONDO:0000476 "MESH:D004422" @@ -5250,12 +5115,9 @@ MONDO:0003699 "ICD9:300.2" MONDO:0003699 "SCTID:386810004" MONDO:0003699 "NCIT:C35420" MONDO:0003699 "MESH:D010698" -MONDO:0003699 "ICD10:F40" MONDO:0003699 "ICD9:300.20" MONDO:0003699 "EFO:1001908" -MONDO:0003699 "ICD10:F40.9" MONDO:0003528 "SCTID:111247001" -MONDO:0003528 "ICD10:T79.6" MONDO:0003528 "DOID:5587" MONDO:0003528 "UMLS:C0042951" MONDO:0003528 "MESH:D054061" @@ -5269,7 +5131,6 @@ MONDO:0007017 "SCTID:53772007" MONDO:0007017 "MedDRA:10047650" MONDO:0007017 "NCIT:C50807" MONDO:0007017 "EFO:1001238" -MONDO:0007017 "ICD10:H43.81" MONDO:0007017 "DOID:9726" MONDO:0007017 "MESH:D020255" MONDO:0010158 "OMIM:276200" @@ -5278,7 +5139,7 @@ MONDO:0006904 "MedDRA:10034878" MONDO:0006904 "SCTID:449826002" MONDO:0006904 "DOID:2712" MONDO:0006904 "MESH:D010688" -MONDO:0006904 "ICD10:N47.1" +MONDO:0006904 "ICD10CM:N47.1" MONDO:0006904 "NCIT:C26852" MONDO:0006904 "EFO:1001104" NCBITaxon:1399768 "GC_ID:1" @@ -5293,9 +5154,9 @@ MONDO:0017262 "Orphanet:281082" MONDO:0008143 "ICD9:715.90" MONDO:0008143 "ICD9:715.98" MONDO:0008143 "OMIM:165720" -MONDO:0015646 "ICD10:G40.8" MONDO:0015646 "UMLS:CN200056" MONDO:0015646 "Orphanet:166421" +MONDO:0015646 "ICD10CM:G40.8" MONDO:0015822 "Orphanet:178996" MONDO:0005634 "EFO:0007131" MONDO:0005634 "ICD9:077.4" @@ -5306,13 +5167,13 @@ MONDO:0005634 "DOID:11227" MONDO:0005634 "SCTID:398264003" MONDO:0017168 "OMIM:181030" MONDO:0017168 "Orphanet:276148" -MONDO:0017168 "ICD10:D11.0" -MONDO:0017168 "ICD10:D11.7" +MONDO:0017168 "ICD10CM:D11.0" +MONDO:0017168 "ICD10CM:D11.7" MONDO:0017168 "UMLS:CN202592" +MONDO:0009376 "ICD10CM:E72.2" MONDO:0009376 "MedDRA:10058297" MONDO:0009376 "NCIT:C84612" MONDO:0009376 "OMIM:237300" -MONDO:0009376 "ICD10:E72.2" MONDO:0009376 "EFO:0007193" MONDO:0009376 "SCTID:62522004" MONDO:0009376 "DOID:9280" @@ -5322,38 +5183,36 @@ MONDO:0009376 "MESH:D020165" MONDO:0002516 "ICD9:239.0" MONDO:0002516 "NCIT:C4890" MONDO:0002516 "MESH:D005770" -MONDO:0002516 "ICD10:C26.9" MONDO:0002516 "DOID:3119" MONDO:0002516 "NCIT:C3052" -MONDO:0002516 "ICD10:C15.C26" +MONDO:0002516 "ICD10CM:C15-C26" MONDO:0012725 "ICD9:593.89" MONDO:0012725 "UMLS:C2673196" MONDO:0012725 "SCTID:446923008" MONDO:0012725 "Orphanet:329481" MONDO:0012725 "ICD9:272.8" MONDO:0012725 "OMIM:611771" -MONDO:0012725 "ICD10:N07.8" +MONDO:0012725 "ICD10CM:N07.8" MONDO:0012725 "MESH:C567089" MONDO:0017825 "UMLS:CN203795" +MONDO:0017825 "ICD10CM:D35.2" MONDO:0017825 "Orphanet:314786" -MONDO:0017825 "ICD10:D35.2" +MONDO:0004946 "UMLS:C0020615" +MONDO:0004946 "SCTID:302866003" +MONDO:0004946 "DOID:9993" +MONDO:0004946 "ICD9:251.1" +MONDO:0004946 "MESH:D007003" +MONDO:0004946 "ICD9:251.2" +MONDO:0004946 "NCIT:C3126" MONDO:0011599 "GARD:0005926" +MONDO:0011599 "ICD10CM:H30.1" MONDO:0011599 "SCTID:231981005" MONDO:0011599 "UMLS:C0339402" MONDO:0011599 "MESH:C537630" MONDO:0011599 "Orphanet:179" MONDO:0011599 "DOID:0111079" MONDO:0011599 "OMIM:605808" -MONDO:0011599 "ICD10:H30.1" MONDO:0011599 "UMLS:C1853959" -MONDO:0004946 "UMLS:C0020615" -MONDO:0004946 "SCTID:302866003" -MONDO:0004946 "DOID:9993" -MONDO:0004946 "ICD10:E16.2" -MONDO:0004946 "ICD9:251.1" -MONDO:0004946 "MESH:D007003" -MONDO:0004946 "ICD9:251.2" -MONDO:0004946 "NCIT:C3126" MONDO:0044323 "OMIM:617537" MONDO:0044323 "UMLS:C4479637" NCBITaxon:201174 "PMID:16280504" @@ -5364,7 +5223,7 @@ NCBITaxon:201174 "PMID:26654112" NCBITaxon:1809 "PMID:12089250" NCBITaxon:1809 "GC_ID:11" MONDO:0012502 "Orphanet:306658" -MONDO:0012502 "ICD10:M11.2" +MONDO:0012502 "ICD10CM:M11.2" MONDO:0012502 "OMIM:610455" MONDO:0012502 "GARD:0010878" MONDO:0012502 "MESH:C566473" @@ -5376,9 +5235,9 @@ MONDO:0016250 "GARD:0012773" MONDO:0009584 "GARD:0003485" MONDO:0009584 "Orphanet:3079" MONDO:0009584 "MESH:C563095" +MONDO:0009584 "ICD10CM:Q87.8" MONDO:0009584 "UMLS:C0796080" MONDO:0009584 "SCTID:725906006" -MONDO:0009584 "ICD10:Q87.8" MONDO:0009584 "OMIM:249630" MONDO:0019767 "Orphanet:93946" MONDO:0019767 "UMLS:CN206702" @@ -5391,8 +5250,8 @@ MONDO:0005164 "UMLS:C0016057" MONDO:0005164 "NCIT:C3043" MONDO:0005164 "SCTID:443250000" MONDO:0005164 "ICD9:171.9" +MONDO:0005164 "ICD10CM:C49.9" MONDO:0005164 "DOID:3355" -MONDO:0005164 "ICD10:C49.9" MONDO:0005164 "EFO:0002087" MONDO:0005164 "NCIT:C7075" MONDO:0005164 "Orphanet:2030" @@ -5418,10 +5277,10 @@ MONDO:0003120 "NCIT:C6347" MONDO:0003120 "ONCOTREE:MGCT" MONDO:0008364 "ICD9:443.0" MONDO:0008364 "SCTID:195295006" +MONDO:0008364 "ICD10CM:I73.0" MONDO:0008364 "OMIM:179600" MONDO:0008364 "UMLS:C0034734" MONDO:0008364 "MESH:D011928" -MONDO:0008364 "ICD10:I73.0" MONDO:0008364 "NCIT:C116359" MONDO:0008364 "DOID:10300" MONDO:0008364 "EFO:1001145" @@ -5431,16 +5290,19 @@ MONDO:0008540 "UMLS:C2931376" MONDO:0008540 "GARD:0002597" MONDO:0008540 "OMIM:187390" MONDO:0008540 "MESH:C566068" -MONDO:0005550 "ICD10:A00.B99" MONDO:0005550 "ICD9:136.9" +MONDO:0005550 "ICD10CM:A00-B99" MONDO:0005550 "DOID:0050117" +MONDO:0005550 "ICD10CM:M00-M02" MONDO:0005550 "ICD9:079.0" MONDO:0005550 "MESH:D003141" MONDO:0005550 "NCIT:C26726" +MONDO:0005550 "ICD10CM:P35-P39" MONDO:0005550 "EFO:0005741" MONDO:0005550 "SCTID:40733004" MONDO:0005550 "ICD9:136.8" MONDO:0005550 "IDO:0000436" +MONDO:0005550 "ICD10CM:B99-B99" MONDO:0014056 "Orphanet:618" MONDO:0014056 "OMIM:615134" MONDO:0010544 "MESH:C535338" @@ -5450,9 +5312,10 @@ MONDO:0010544 "GARD:0008278" MONDO:0010544 "Orphanet:98994" MONDO:0010544 "Orphanet:98991" MONDO:0010544 "DOID:0110272" -MONDO:0010544 "ICD10:Q12.0" MONDO:0010720 "GTR:AN0098652" MONDO:0010720 "GTR:AN0098650" +MONDO:0010720 "ICD10CM:E34.5" +MONDO:0010720 "ICD10CM:E34.52" MONDO:0010720 "MESH:C538435" MONDO:0010720 "GTR:AN0098654" MONDO:0010720 "Orphanet:90797" @@ -5461,10 +5324,8 @@ MONDO:0010720 "OMIM:312100" MONDO:0010720 "GTR:AN0098651" MONDO:0010720 "UMLS:CN035075" MONDO:0010720 "OMIM:312300" -MONDO:0010720 "ICD10:E34.5" MONDO:0010720 "NCIT:C120192" MONDO:0010720 "GTR:AN0098655" -MONDO:0010720 "ICD10:E34.52" MONDO:0010720 "OMIM:307300" MONDO:0010720 "GTR:AN0098649" MONDO:0010720 "SCTID:122811000119101" @@ -5472,16 +5333,16 @@ MONDO:0013943 "UMLS:C3553960" MONDO:0013943 "Orphanet:44" MONDO:0013943 "Orphanet:772" MONDO:0013943 "OMIM:614877" +MONDO:0018407 "ICD10CM:N46" MONDO:0018407 "Orphanet:399998" -MONDO:0018407 "ICD10:N46" MONDO:0044967 "ICD9:V49.1" MONDO:0044967 "SCTID:128605003" MONDO:0044967 "UMLS:C1290877" MONDO:0033543 "OMIM:618970" MONDO:0017691 "Orphanet:308473" MONDO:0017691 "UMLS:C0574090" +MONDO:0017691 "ICD10CM:E74.2" MONDO:0017691 "SCTID:297238008" -MONDO:0017691 "ICD10:E74.2" MONDO:0003248 "DOID:5031" MONDO:0003248 "UMLS:C0280794" MONDO:0003248 "NCIT:C8273" @@ -5497,22 +5358,21 @@ MONDO:0013297 "OMIM:613530" MONDO:0013297 "UMLS:C3150786" MONDO:0013297 "DOID:0110303" MONDO:0013297 "GARD:0012532" -MONDO:0013297 "ICD10:G71.0" +MONDO:0013297 "ICD10CM:G71.0" MONDO:0013297 "Orphanet:238755" MONDO:0011985 "Orphanet:183666" -MONDO:0011985 "ICD10:D80.5" MONDO:0011985 "OMIM:608184" MONDO:0011985 "MESH:C564277" MONDO:0011985 "GARD:0010580" MONDO:0011985 "Orphanet:101091" MONDO:0011985 "DOID:0060760" MONDO:0011985 "UMLS:C1842413" +MONDO:0011985 "ICD10CM:D80.5" MONDO:0012931 "OMIM:612551" MONDO:0020288 "Orphanet:98720" MONDO:0001466 "UMLS:C0259799" MONDO:0001466 "SCTID:416069001" MONDO:0001466 "ICD9:370.21" -MONDO:0001466 "ICD10:H16.14" MONDO:0001466 "DOID:12197" MONDO:0023664 "OMIM:619379" MONDO:0008739 "OMIM:202600" @@ -5522,8 +5382,8 @@ MONDO:0016530 "UMLS:C0265761" MONDO:0016530 "MedDRA:10023885" MONDO:0016530 "Orphanet:2372" MONDO:0016530 "ICD9:748.3" -MONDO:0016530 "ICD10:Q31.3" MONDO:0016530 "SCTID:51523009" +MONDO:0016530 "ICD10CM:Q31.3" MONDO:0016530 "MESH:D059608" MONDO:0013652 "Orphanet:2073" MONDO:0013652 "UMLS:C3280266" @@ -5532,20 +5392,18 @@ CL:1000467 "FMA:74321" MONDO:0015425 "Orphanet:1423" MONDO:0015425 "SCTID:719404009" MONDO:0015425 "GARD:0001294" -MONDO:0015425 "ICD10:Q78.8" MONDO:0015425 "UMLS:C4304745" MONDO:0015425 "UMLS:CN199522" +MONDO:0015425 "ICD10CM:Q78.8" MONDO:0011660 "GARD:0009167" MONDO:0011660 "OMIM:606346" MONDO:0011660 "MESH:C538197" MONDO:0011660 "DOID:0110552" MONDO:0011660 "Orphanet:90635" -MONDO:0011660 "ICD10:H90.3" MONDO:0001349 "ICD9:521.05" MONDO:0001349 "UMLS:C0341004" MONDO:0001349 "DOID:11736" MONDO:0001349 "SCTID:196305005" -MONDO:0001349 "ICD10:K02.4" MONDO:0006624 "EFO:1000781" MONDO:0006624 "MedDRA:10020853" MONDO:0006624 "HP:0000012" @@ -5563,21 +5421,19 @@ MONDO:0014746 "DOID:0070266" MONDO:0015083 "Orphanet:100932" MONDO:0019546 "UMLS:CN206373" MONDO:0019546 "Orphanet:90077" -MONDO:0017112 "ICD10:Q04.3" +MONDO:0017112 "ICD10CM:Q04.3" MONDO:0017112 "SCTID:766934006" MONDO:0017112 "Orphanet:269218" +MONDO:0018349 "ICD10CM:E77.8" MONDO:0018349 "GARD:0012417" MONDO:0018349 "UMLS:C4518783" MONDO:0018349 "Orphanet:397941" MONDO:0018349 "SCTID:733450008" -MONDO:0018349 "ICD10:E77.8" MONDO:0000337 "UMLS:C0595993" -MONDO:0000337 "ICD10:B08.20" MONDO:0000337 "DOID:0050495" MONDO:0000337 "SCTID:54385001" MONDO:0000337 "NCIT:C128420" MONDO:0000337 "ICD9:058.10" -MONDO:0000337 "ICD10:B08.2" MONDO:0000337 "ICD9:058.1" MONDO:0000337 "UMLS:C0015231" MONDO:0000337 "ICD9:057.8" @@ -5588,7 +5444,6 @@ MONDO:0004842 "NCIT:C26887" MONDO:0004842 "ICD9:528.0" MONDO:0004842 "MESH:D013280" MONDO:0004842 "EFO:1001904" -MONDO:0004842 "ICD10:K12.1" MONDO:0004842 "SCTID:61170000" MONDO:0004842 "UMLS:C0038362" MONDO:0004842 "UMLS:C1568868" @@ -5600,7 +5455,7 @@ MONDO:0009226 "Orphanet:2021" MONDO:0010323 "OMIM:300431" MONDO:0010323 "SCTID:718577005" MONDO:0010323 "GARD:0003537" -MONDO:0010323 "ICD10:Q87.8" +MONDO:0010323 "ICD10CM:Q87.8" MONDO:0010323 "Orphanet:1193" MONDO:0011881 "UMLS:C2931123" MONDO:0011881 "GARD:0009173" @@ -5612,7 +5467,7 @@ MONDO:0019167 "EFO:1000965" MONDO:0019167 "NCIT:C34963" MONDO:0019167 "MESH:D011695" MONDO:0019167 "GARD:0008204" -MONDO:0019167 "ICD10:D69.0" +MONDO:0019167 "ICD10CM:D69.0" MONDO:0019167 "SCTID:191306005" MONDO:0019167 "DOID:11123" MONDO:0019167 "ICD9:287.0" @@ -5622,10 +5477,10 @@ MONDO:0002518 "UMLS:C1333754" MONDO:0002518 "NCIT:C7130" MONDO:0017470 "Orphanet:295034" MONDO:0017470 "HP:0005191" +MONDO:0017470 "ICD10CM:Q68.2" MONDO:0017470 "SCTID:59068006" MONDO:0017470 "MedDRA:10010520" MONDO:0017470 "ICD9:754.41" -MONDO:0017470 "ICD10:Q68.2" MONDO:0014245 "Orphanet:124" MONDO:0014245 "OMIM:615550" MONDO:0014245 "UMLS:C3809888" @@ -5633,14 +5488,13 @@ MONDO:0004948 "OMIM:609630" MONDO:0004948 "OMIM:612559" MONDO:0004948 "OMIM:109543" MONDO:0004948 "UMLS:C0855095" -MONDO:0004948 "ICD10:C91.1" MONDO:0004948 "ICD9:204.1" MONDO:0004948 "Orphanet:67038" MONDO:0004948 "OMIM:612558" MONDO:0004948 "OMIM:151400" +MONDO:0004948 "ICD10CM:C91.1" MONDO:0004948 "NCIT:C3163" MONDO:0004948 "OMIM:612557" -MONDO:0004948 "ICD10:C91.10" MONDO:0004948 "EFO:0000095" MONDO:0004948 "GARD:0006104" MONDO:0004948 "MedDRA:10008958" @@ -5650,14 +5504,14 @@ MONDO:0004948 "DOID:1040" MONDO:0013475 "UMLS:C3151265" MONDO:0013475 "OMIM:613874" MONDO:0013475 "DOID:0110324" -MONDO:0016100 "ICD10:G70.8" +MONDO:0016100 "ICD10CM:G70.8" MONDO:0016100 "Orphanet:206575" MONDO:0016100 "UMLS:CN200870" MONDO:0014421 "UMLS:C1841972" +MONDO:0014421 "ICD10CM:E25.8" MONDO:0014421 "OMIM:615962" MONDO:0014421 "Orphanet:786" MONDO:0014421 "MESH:C564221" -MONDO:0014421 "ICD10:E25.8" MONDO:0014421 "GARD:0002499" MONDO:0003394 "UMLS:C0011405" MONDO:0003394 "MESH:D003788" @@ -5668,12 +5522,12 @@ MONDO:0003394 "SCTID:57203004" MONDO:0007111 "OMIM:105800" MONDO:0007111 "UMLS:C1862932" MONDO:0007111 "MESH:C566284" +MONDO:0004725 "ICD10CM:D01.2" MONDO:0004725 "DOID:9174" MONDO:0004725 "UMLS:C0154062" MONDO:0004725 "NCIT:C4853" MONDO:0004725 "SCTID:308879003" MONDO:0004725 "ICD9:230.4" -MONDO:0004725 "ICD10:D01.2" MONDO:0008214 "DOID:9631" MONDO:0008214 "OMIM:169400" MONDO:0008214 "GARD:0009148" @@ -5697,14 +5551,13 @@ MONDO:0011764 "UMLS:C1846862" MONDO:0011764 "DOID:0060371" CL:0002153 "BTO:0001943" CL:0002153 "FMA:68650" +HP:0008372 "UMLS:C4024686" MONDO:0020067 "ICD9:323.4" MONDO:0020067 "MESH:D000069544" MONDO:0020067 "SCTID:312215006" MONDO:0020067 "ICD9:049.8" MONDO:0020067 "NCIT:C79550" -HP:0008372 "UMLS:C4024686" MONDO:0009092 "GARD:9921" -MONDO:0009092 "ICD10:E75.2" MONDO:0009092 "ICD9:758.89" MONDO:0009092 "SCTID:702347001" MONDO:0009092 "DOID:0090112" @@ -5712,12 +5565,13 @@ MONDO:0009092 "UMLS:C1857316" MONDO:0009092 "GARD:0009921" MONDO:0009092 "OMIMPS:221770" MONDO:0009092 "Orphanet:2770" +MONDO:0009092 "OMIM:221770" +MONDO:0009092 "ICD10CM:E75.2" MONDO:0015341 "HP:0025471" MONDO:0015341 "Orphanet:139414" -MONDO:0012463 "ICD10:H35.5" MONDO:0012463 "UMLS:C1853214" -MONDO:0012463 "OMIM:610282" MONDO:0012463 "GARD:0010402" +MONDO:0012463 "OMIM:610282" MONDO:0012463 "DOID:0110357" MONDO:0012463 "MESH:C565206" MONDO:0012463 "Orphanet:791" @@ -5735,11 +5589,10 @@ MONDO:0009616 "OMIM:251190" MONDO:0009616 "SCTID:715482004" MONDO:0009616 "UMLS:C1855089" MONDO:0009616 "MESH:C537321" -MONDO:0009616 "ICD10:Q87.1" MONDO:0009616 "Orphanet:2643" MONDO:0009616 "GARD:0003602" +MONDO:0009616 "ICD10CM:Q87.1" MONDO:0044263 "HGNC:12837" -MONDO:0001938 "ICD10:N90.4" MONDO:0001938 "NCIT:C34565" MONDO:0001938 "DOID:14292" MONDO:0001938 "ICD9:624.09" @@ -5761,10 +5614,10 @@ MONDO:0024279 "UMLS:C0238104" MONDO:0024279 "NCIT:C102820" MONDO:0024279 "SCTID:63922003" CL:0002224 "FMA:67559" +MONDO:0020382 "ICD10CM:H35.5" MONDO:0020382 "Orphanet:99003" MONDO:0020382 "UMLS:CN207256" MONDO:0020382 "SCTID:723408004" -MONDO:0020382 "ICD10:H35.5" NCBITaxon:9443 "GC_ID:1" MONDO:0012346 "Orphanet:36387" MONDO:0012346 "DOID:0111293" @@ -5774,38 +5627,37 @@ MONDO:0012346 "MESH:C565227" MONDO:0003413 "UMLS:C0859920" MONDO:0003413 "NCIT:C7367" MONDO:0003413 "DOID:5375" -MONDO:0008857 "ICD10:Q87.8" MONDO:0008857 "GARD:0000846" MONDO:0008857 "Orphanet:1237" MONDO:0008857 "UMLS:C1859526" MONDO:0008857 "SCTID:717859007" MONDO:0008857 "OMIM:209970" MONDO:0008857 "MESH:C537668" +MONDO:0008857 "ICD10CM:Q87.8" MONDO:0006770 "EFO:1000950" MONDO:0006770 "ICD9:526.3" MONDO:0006770 "DOID:1866" MONDO:0006770 "SCTID:15350006" -MONDO:0006770 "ICD10:M27.1" MONDO:0006770 "NCIT:C121893" MONDO:0006770 "MESH:D006101" MONDO:0006770 "UMLS:C0162375" MONDO:0014525 "DOID:0111500" MONDO:0014525 "Orphanet:444013" +MONDO:0014525 "ICD10CM:I42.2" MONDO:0014525 "EFO:0009033" MONDO:0014525 "UMLS:C4015447" MONDO:0014525 "OMIM:616198" -MONDO:0014525 "ICD10:I42.2" MONDO:0015848 "Orphanet:180154" +MONDO:0015848 "ICD10CM:Q52.1" MONDO:0015848 "ICD9:752.49" -MONDO:0015848 "ICD10:Q52.1" MONDO:0015848 "HP:0001153" MONDO:0015848 "SCTID:47054003" MONDO:0000299 "ICD9:128.8" MONDO:0000299 "UMLS:C0344058" MONDO:0000299 "DOID:0050261" MONDO:0000299 "SCTID:46477004" +MONDO:0018273 "ICD10CM:E77.8" MONDO:0018273 "Orphanet:370930" -MONDO:0018273 "ICD10:E77.8" MONDO:0018273 "UMLS:CN204859" MONDO:0001245 "NCIT:C35141" MONDO:0001245 "HP:0001935" @@ -5860,17 +5712,15 @@ MONDO:0005886 "UMLS:C0006849" MONDO:0005886 "SCTID:78048006" MONDO:0005886 "SCTID:79740000" MONDO:0005886 "MESH:D002180" -MONDO:0005886 "ICD10:B37.9" MONDO:0005886 "DOID:14262" MONDO:0005886 "ICD9:112.0" -MONDO:0005886 "ICD10:B37.0" MONDO:0005886 "EFO:0007406" HP:0000230 "UMLS:C0017574" HP:0000230 "SNOMEDCT_US:66383009" HP:0000230 "MSH:D005891" +MONDO:0014391 "ICD10CM:D81.2" MONDO:0014391 "Orphanet:420573" MONDO:0014391 "UMLS:C4014617" -MONDO:0014391 "ICD10:D81.2" MONDO:0014391 "OMIM:615897" MONDO:0014391 "SCTID:763623001" MONDO:0020640 "SCTID:95643007" @@ -5889,7 +5739,6 @@ MONDO:0011296 "GARD:0008743" MONDO:0011296 "OMIM:603194" MONDO:0011296 "MESH:C536131" MONDO:0011296 "DOID:0070116" -MONDO:0011296 "ICD10:Q61.9" MONDO:0011296 "Orphanet:564" MONDO:0011296 "UMLS:C1864148" MONDO:0012242 "MESH:C536849" @@ -5926,7 +5775,6 @@ MONDO:0000502 "DOID:0050869" MONDO:0000502 "MESH:D018253" MONDO:0000502 "NCIT:C7399" MONDO:0000502 "ICDO:8261/0" -MONDO:0017409 "ICD10:P35.1" MONDO:0017409 "Orphanet:294" MONDO:0017409 "SCTID:276701009" MONDO:0017409 "GARD:0001409" @@ -5940,21 +5788,21 @@ MONDO:0010972 "MESH:C536461" MONDO:0010972 "OMIM:600991" MONDO:0010972 "SCTID:721229003" MONDO:0010972 "GARD:0005518" -MONDO:0010972 "ICD10:Q87.8" +MONDO:0010972 "ICD10CM:Q87.8" HP:0011121 "Fyler:4133" HP:0011121 "UMLS:C4023528" -MONDO:0017776 "ICD10:A43" -MONDO:0017776 "MESH:D009617" -MONDO:0017776 "ICD10:A43.0" -MONDO:0017776 "EFO:0007397" -MONDO:0017776 "ICD10:A43.8" -MONDO:0017776 "GARD:0007210" -MONDO:0017776 "ICD10:A43.1" MONDO:0017776 "DOID:2312" +MONDO:0017776 "MESH:D009617" MONDO:0017776 "MedDRA:10029444" +MONDO:0017776 "ICD10CM:A43.0" +MONDO:0017776 "ICD10CM:A43.8" +MONDO:0017776 "GARD:0007210" +MONDO:0017776 "EFO:0007397" +MONDO:0017776 "ICD10CM:A43.1" +MONDO:0017776 "ICD10CM:A43.9" MONDO:0017776 "SCTID:29227009" MONDO:0017776 "Orphanet:31204" -MONDO:0017776 "ICD10:A43.9" +MONDO:0017776 "ICD10CM:A43" CL:0002003 "FMA:83517" MONDO:0013683 "Orphanet:289365" MONDO:0013683 "UMLS:C3280440" @@ -5962,18 +5810,18 @@ MONDO:0013683 "OMIM:614318" MONDO:0013336 "UMLS:C3150894" MONDO:0013336 "OMIM:613638" MONDO:0013336 "DOID:0060426" -MONDO:0013336 "ICD10:Q93.5" MONDO:0013336 "SCTID:764440006" MONDO:0013336 "Orphanet:357001" MONDO:0013336 "UMLS:CN204595" +MONDO:0013336 "ICD10CM:Q93.5" NCBITaxon:5820 "GC_ID:1" MONDO:0007072 "OMIM:103285" MONDO:0007072 "SCTID:720464003" MONDO:0007072 "MESH:C538052" MONDO:0007072 "GARD:0000384" MONDO:0007072 "UMLS:C1863204" -MONDO:0007072 "ICD10:Q87.2" MONDO:0007072 "DOID:0050601" +MONDO:0007072 "ICD10CM:Q87.2" MONDO:0007072 "Orphanet:978" NCBITaxon:28216 "PMID:28581923" NCBITaxon:28216 "GC_ID:11" @@ -5981,11 +5829,12 @@ NCBITaxon:28216 "PMID:16403855" MONDO:0015627 "SCTID:766717008" MONDO:0015627 "OMIM:600204" MONDO:0015627 "OMIM:600969" +MONDO:0015627 "ICD10CM:Q77.3" MONDO:0015627 "Orphanet:166002" -MONDO:0015627 "ICD10:Q77.3" MONDO:0015627 "OMIM:614135" MONDO:0015627 "DOID:0070305" MONDO:0030999 "OMIM:619244" +MONDO:0010167 "ICD10CM:E70.8" MONDO:0010167 "OMIM:276880" MONDO:0010167 "HP:0012237" MONDO:0010167 "Orphanet:210128" @@ -5993,7 +5842,6 @@ MONDO:0010167 "SCTID:60952007" MONDO:0010167 "GARD:0008539" MONDO:0010167 "UMLS:C0268514" MONDO:0010167 "MESH:C536479" -MONDO:0010167 "ICD10:E70.8" HP:0100497 "UMLS:C0030783" HP:0100497 "SNOMEDCT_US:418279001" HP:0100497 "SNOMEDCT_US:418186002" @@ -6006,45 +5854,44 @@ MONDO:0004591 "ICD9:694.3" MONDO:0004591 "SCTID:65539006" MONDO:0004591 "UMLS:C1314968" MONDO:0004591 "EFO:1000715" -MONDO:0004591 "ICD10:L40.1" MONDO:0004591 "DOID:8503" MONDO:0034021 "Orphanet:536471" MONDO:0019839 "Orphanet:95513" -MONDO:0019839 "ICD10:E23.6" +MONDO:0019839 "ICD10CM:E23.6" HP:0000713 "UMLS:C0085631" HP:0000713 "SNOMEDCT_US:24199005" MONDO:0019041 "UMLS:CN205525" MONDO:0019041 "Orphanet:68336" MONDO:0011569 "MESH:C537990" -MONDO:0011569 "ICD10:G60.0" MONDO:0011569 "Orphanet:98856" MONDO:0011569 "SCTID:725048002" +MONDO:0011569 "ICD10CM:G60.0" MONDO:0011569 "UMLS:C1854154" MONDO:0011569 "OMIM:605588" MONDO:0011569 "DOID:0110156" MONDO:0011569 "GARD:0008548" MONDO:0022889 "GARD:0001585" MONDO:0018052 "OMIM:188740" -MONDO:0018052 "ICD10:Q74.8" MONDO:0018052 "DOID:0111564" MONDO:0018052 "SCTID:716741008" +MONDO:0018052 "ICD10CM:Q74.8" MONDO:0018052 "UMLS:CN204341" MONDO:0018052 "Orphanet:3332" -MONDO:0017496 "ICD10:Q72.1" +MONDO:0017496 "ICD10CM:Q72.1" MONDO:0017496 "Orphanet:295089" MONDO:0011979 "Orphanet:99000" MONDO:0011979 "SCTID:232049001" +MONDO:0011979 "ICD10CM:H35.5" MONDO:0011979 "OMIM:608161" MONDO:0011979 "OMIM:153840" MONDO:0011979 "OMIM:616152" MONDO:0011979 "OMIM:616151" -MONDO:0011979 "ICD10:H35.5" MONDO:0011979 "GARD:0010909" MONDO:0011979 "UMLS:C1842914" MONDO:0005173 "HP:0025127" MONDO:0005173 "NCIT:C3148" +MONDO:0005173 "ICD10CM:L57.0" MONDO:0005173 "MESH:D055623" -MONDO:0005173 "ICD10:L57.0" MONDO:0005173 "UMLS:C0022602" MONDO:0005173 "EFO:0002496" MONDO:0005173 "ICD9:702.19" @@ -6052,27 +5899,26 @@ MONDO:0005173 "SCTID:398838000" MONDO:0005173 "ICD9:702.0" MONDO:0005173 "DOID:8866" MONDO:0005173 "UMLS:C4282032" -MONDO:0017325 "ICD10:E72.1" +MONDO:0017325 "OMIM:613971" MONDO:0017325 "Orphanet:289266" +MONDO:0017325 "ICD10CM:E72.1" MONDO:0005830 "EFO:0007349" MONDO:0005830 "UMLS:C0024106" MONDO:0005830 "MESH:D008166" +MONDO:0001410 "ICD10CM:N95.2" MONDO:0001410 "SCTID:52441000" MONDO:0001410 "UMLS:C0156409" MONDO:0001410 "UMLS:C0221392" -MONDO:0001410 "ICD10:N95.2" MONDO:0001410 "DOID:11968" MONDO:0001410 "EFO:1001271" MONDO:0001410 "MESH:D059268" MONDO:0001410 "ICD9:627.3" MONDO:0011920 "DOID:0110571" -MONDO:0011920 "ICD10:H90.3" MONDO:0011920 "OMIM:607841" MONDO:0011920 "UMLS:C1842939" MONDO:0011920 "MESH:C564322" MONDO:0009439 "NCIT:C132827" MONDO:0009439 "Orphanet:281122" -MONDO:0009439 "ICD10:Q80.2" MONDO:0009439 "DOID:0060710" MONDO:0009439 "UMLS:C1855789" MONDO:0009439 "Orphanet:79394" @@ -6095,12 +5941,12 @@ MONDO:0008560 "MESH:D020016" MONDO:0008560 "UMLS:C1861171" MONDO:0008560 "SCTID:421527008" MONDO:0008560 "OMIM:188055" -MONDO:0013115 "UMLS:C2751321" MONDO:0013115 "SCTID:723367005" +MONDO:0013115 "UMLS:C2751321" MONDO:0013115 "MESH:C567770" MONDO:0013115 "Orphanet:217335" +MONDO:0013115 "ICD10CM:Q82.8" MONDO:0013115 "OMIM:613075" -MONDO:0013115 "ICD10:Q82.8" MONDO:0002851 "DOID:4049" MONDO:0002851 "NCIT:C6617" MONDO:0002851 "UMLS:C1334677" @@ -6108,16 +5954,16 @@ MONDO:0004140 "DOID:7202" MONDO:0004140 "ICDO:9083/3" MONDO:0004140 "NCIT:C4288" MONDO:0004140 "UMLS:C0334522" -MONDO:0007363 "ICD10:Q68.8" -MONDO:0007363 "ICD9:759.89" MONDO:0007363 "SCTID:205821003" -MONDO:0007363 "DOID:0111595" -MONDO:0007363 "MESH:C536211" -MONDO:0007363 "GARD:0005899" MONDO:0007363 "UMLS:C0220668" +MONDO:0007363 "ICD9:759.89" +MONDO:0007363 "MESH:C536211" +MONDO:0007363 "ICD10CM:Q68.8" +MONDO:0007363 "NCIT:C129865" MONDO:0007363 "Orphanet:115" +MONDO:0007363 "DOID:0111595" MONDO:0007363 "OMIM:121050" -MONDO:0007363 "NCIT:C129865" +MONDO:0007363 "GARD:0005899" MONDO:0010740 "GARD:0010068" MONDO:0010740 "MESH:C536947" MONDO:0010740 "UMLS:C1839235" @@ -6132,6 +5978,7 @@ MONDO:0004118 "SCTID:13285005" MONDO:0004118 "NCIT:C96230" MONDO:0004118 "ICD9:595.81" MONDO:0004118 "UMLS:C0152262" +MONDO:0015597 "ICD10CM:L40.3" MONDO:0015597 "DOID:4398" MONDO:0015597 "GARD:0012820" MONDO:0015597 "Orphanet:163927" @@ -6139,13 +5986,12 @@ MONDO:0015597 "SCTID:27520001" MONDO:0015597 "NCIT:C34888" MONDO:0015597 "SCTID:81271001" MONDO:0015597 "MedDRA:10050185" -MONDO:0015597 "ICD10:L40.3" MONDO:0015597 "ICD9:696.1" MONDO:0024340 "NCIT:C6956" MONDO:0011157 "Orphanet:1532" MONDO:0011157 "SCTID:722451006" MONDO:0011157 "GARD:0000229" -MONDO:0011157 "ICD10:Q07.8" +MONDO:0011157 "ICD10CM:Q07.8" MONDO:0011157 "MESH:C537285" MONDO:0011157 "OMIM:601853" MONDO:0000893 "DOID:0080184" @@ -6159,8 +6005,8 @@ MONDO:0006796 "SCTID:50490005" MONDO:0006796 "ICD9:437.2" MONDO:0006796 "MedDRA:10020803" MONDO:0006796 "NCIT:C3503" -MONDO:0006796 "ICD10:I67.4" MONDO:0006796 "UMLS:C0151620" +MONDO:0006796 "ICD10CM:I67.4" MONDO:0007742 "OMIM:143460" MONDO:0005581 "EFO:0005923" MONDO:0054865 "Orphanet:527276" @@ -6173,19 +6019,19 @@ NCBITaxon:186820 "GC_ID:11" MONDO:0009188 "GARD:0002168" MONDO:0009188 "OMIM:226850" MONDO:0009188 "Orphanet:1951" +MONDO:0009188 "ICD10CM:G40.8" MONDO:0009188 "MESH:C535497" MONDO:0009188 "UMLS:C1856929" -MONDO:0009188 "ICD10:G40.8" MONDO:0012559 "MESH:C563663" MONDO:0012559 "Orphanet:90023" MONDO:0012559 "UMLS:C4305256" +MONDO:0012559 "ICD10CM:D82.8" MONDO:0012559 "UMLS:C1835829" MONDO:0012559 "OMIM:610798" -MONDO:0012559 "ICD10:D82.8" MONDO:0012559 "SCTID:718717004" -MONDO:0015629 "ICD10:D68.0" MONDO:0015629 "UMLS:C1282971" MONDO:0015629 "Orphanet:166087" +MONDO:0015629 "ICD10CM:D68.0" MONDO:0015629 "NCIT:C131687" MONDO:0015629 "SCTID:359717002" MONDO:0015629 "SCTID:359721009" @@ -6211,26 +6057,25 @@ MONDO:0019293 "MedDRA:10062171" MONDO:0019293 "Orphanet:79379" NCBITaxon:37104 "PMID:20093080" NCBITaxon:37104 "GC_ID:1" +MONDO:0018358 "ICD10CM:D59.1" MONDO:0018358 "Orphanet:398109" -MONDO:0018358 "ICD10:D59.1" -MONDO:0017730 "ICD10:E75.2" +MONDO:0017730 "ICD10CM:E75.2" MONDO:0017730 "Orphanet:309271" MONDO:0006820 "MESH:D007673" MONDO:0006820 "SCTID:444691002" -MONDO:0006820 "ICD10:N17.1" MONDO:0006820 "DOID:2973" MONDO:0006820 "EFO:1001003" MONDO:0006820 "MedDRA:10023414" MONDO:0006820 "ICD9:583.6" MONDO:0002571 "ONCOTREE:PCNSL" MONDO:0002571 "NCIT:C9301" -MONDO:0002571 "ICD10:C83.3" MONDO:0002571 "GARD:0009318" MONDO:0002571 "ICD9:200.5" MONDO:0002571 "Orphanet:46135" MONDO:0002571 "DOID:3234" MONDO:0002571 "MedDRA:10036685" MONDO:0002571 "UMLS:C0742472" +MONDO:0002571 "ICD10CM:C83.3" MONDO:0002571 "EFO:1000157" MONDO:0002571 "SCTID:307649006" MONDO:0044777 "GTR:AN1172965" @@ -6256,7 +6101,7 @@ HP:0010719 "UMLS:C4073290" HP:0010719 "UMLS:C4072881" HP:0010719 "UMLS:C4072880" HP:0010719 "UMLS:C4023722" -MONDO:0015146 "ICD10:Q04.3" +MONDO:0015146 "ICD10CM:Q04.3" MONDO:0015146 "GARD:0005049" MONDO:0015146 "Orphanet:102009" MONDO:0009554 "Orphanet:2453" @@ -6274,7 +6119,7 @@ MONDO:0013046 "MESH:C567861" MONDO:0013046 "GARD:0002125" MONDO:0013046 "Orphanet:99849" MONDO:0013046 "OMIM:612932" -MONDO:0013046 "ICD10:E74.0" +MONDO:0013046 "ICD10CM:E74.0" MONDO:0002454 "NCIT:C3502" MONDO:0002454 "DOID:2891" MONDO:0002454 "HP:0000854" @@ -6297,7 +6142,7 @@ HP:0011147 "UMLS:C0014553" HP:0011147 "SNOMEDCT_US:50866000" HP:0011147 "MSH:D004832" HP:0011147 "SNOMEDCT_US:432241000124101" -MONDO:0011922 "ICD10:D70" +MONDO:0011922 "ICD10CM:D70" MONDO:0011922 "Orphanet:2688" MONDO:0011922 "OMIM:607847" MONDO:0011922 "MESH:C564320" @@ -6318,13 +6163,13 @@ MONDO:0003199 "SCTID:448315008" MONDO:0003199 "MESH:D001005" MONDO:0003199 "NCIT:C9291" MONDO:0003199 "UMLS:C0279637" +MONDO:0016587 "ICD10CM:I42.8" MONDO:0016587 "GARD:0005847" MONDO:0016587 "ICD9:425.4" MONDO:0016587 "Orphanet:247" MONDO:0016587 "UMLS:C0349788" MONDO:0016587 "OMIM:604401" MONDO:0016587 "Orphanet:217656" -MONDO:0016587 "ICD10:I42.8" MONDO:0016587 "DOID:0050431" MONDO:0016587 "SCTID:281170005" MONDO:0016587 "MedDRA:10058093" @@ -6343,12 +6188,13 @@ MONDO:0011805 "OMIM:607277" MONDO:0011805 "UMLS:C1846534" CL:0000514 "FMA:84798" MONDO:0009929 "GARD:0004595" +MONDO:0009929 "ICD10CM:P28.0" MONDO:0009929 "MESH:C566882" MONDO:0009929 "UMLS:C1968602" -MONDO:0009929 "ICD10:P28.0" MONDO:0009929 "Orphanet:217563" MONDO:0009929 "OMIM:265120" MONDO:0009929 "Orphanet:264675" +MONDO:8000031 "Orphanet:557494" MONDO:0008866 "Orphanet:2695" MONDO:0008866 "OMIM:210400" MONDO:0009812 "MESH:C564916" @@ -6373,25 +6219,22 @@ HP:0001289 "MSH:D003221" HP:0001289 "UMLS:C0009676" MONDO:0014196 "UMLS:C1845146" MONDO:0014196 "MESH:C564484" +MONDO:0014196 "ICD10CM:Q87.8" MONDO:0014196 "OMIM:615465" MONDO:0014196 "SCTID:766032007" -MONDO:0014196 "ICD10:Q87.8" MONDO:0014196 "Orphanet:2117" -MONDO:0002003 "ICD10:H47.10" MONDO:0002003 "DOID:146" MONDO:0002003 "NCIT:C3307" MONDO:0002003 "GARD:0007318" MONDO:0002003 "SCTID:423341008" -MONDO:0002003 "ICD10:H46.0" -MONDO:0002003 "ICD10:H47.1" MONDO:0002003 "ICD9:377.0" MONDO:0002003 "ICD9:377.31" MONDO:0002003 "ICD9:377.00" +MONDO:0019963 "ICD10CM:D38.1" MONDO:0019963 "UMLS:CN206886" MONDO:0019963 "Orphanet:97287" -MONDO:0019963 "ICD10:D38.1" +MONDO:0020445 "ICD10CM:Q26.8" MONDO:0020445 "Orphanet:99114" -MONDO:0020445 "ICD10:Q26.8" MONDO:0020445 "ICD9:747.49" MONDO:0020445 "SCTID:204464007" NCBITaxon:134362 "GC_ID:1" @@ -6405,13 +6248,13 @@ MONDO:0700065 "NCIT:C3421" MONDO:0700065 "GARD:0006065" MONDO:0001265 "SCTID:88975006" MONDO:0001265 "NCIT:C94376" -MONDO:0001265 "ICD10:F20.81" +MONDO:0001265 "ICD10CM:F20.81" MONDO:0001265 "ICD9:295.4" MONDO:0001265 "DOID:11328" MONDO:0007168 "Orphanet:56305" MONDO:0007168 "GARD:0010608" MONDO:0007168 "SCTID:725142004" -MONDO:0007168 "ICD10:Q78.8" +MONDO:0007168 "ICD10CM:Q78.8" MONDO:0007168 "OMIM:108721" MONDO:0007168 "MESH:C579928" MONDO:0017965 "UMLS:CN204115" @@ -6419,8 +6262,7 @@ MONDO:0017965 "Orphanet:325109" MONDO:0005856 "MESH:D018701" MONDO:0005856 "UMLS:C0242916" MONDO:0005856 "EFO:0007376" -MONDO:0018911 "ICD10:E11.8" -MONDO:0018911 "ICD10:E11.9" +MONDO:0018911 "ICD10CM:E11.9" MONDO:0018911 "OMIM:612225" MONDO:0018911 "OMIM:125851" MONDO:0018911 "OMIM:606394" @@ -6448,25 +6290,18 @@ NCBITaxon:203692 "PMID:26654112" NCBITaxon:203692 "PMID:25288668" NCBITaxon:203692 "PMID:11837318" MONDO:0004641 "UMLS:C0154073" -MONDO:0004641 "ICD10:D04" -MONDO:0004641 "ICD10:D04.3" MONDO:0004641 "ICD9:232.7" MONDO:0004641 "ICD9:232" MONDO:0004641 "ICD9:232.6" -MONDO:0004641 "ICD10:D04.6" MONDO:0004641 "ICD9:232.4" MONDO:0004641 "ICD9:232.9" MONDO:0004641 "SCTID:92749008" MONDO:0004641 "ICD9:232.3" MONDO:0004641 "ICD9:232.2" MONDO:0004641 "ICD9:232.0" -MONDO:0004641 "ICD10:D04.9" -MONDO:0004641 "ICD10:D04.7" MONDO:0004641 "ICD9:232.8" -MONDO:0004641 "ICD10:D04.0" -MONDO:0004641 "ICD10:D04.4" MONDO:0004641 "NCIT:C3640" -MONDO:0004641 "ICD10:D04.2" +MONDO:0004641 "ICD10CM:D04" MONDO:0004641 "ICD9:232.5" MONDO:0004641 "DOID:8687" MONDO:0003444 "NCIT:C7126" @@ -6476,18 +6311,18 @@ MONDO:0000309 "ICD9:367.32" MONDO:0000309 "SCTID:16059006" MONDO:0000309 "MESH:D000839" MONDO:0000309 "DOID:0050304" +MONDO:0000309 "ICD10CM:H52.32" MONDO:0000309 "EFO:1001266" -MONDO:0000309 "ICD10:H52.32" -MONDO:0012724 "ICD10:E85.0" MONDO:0012724 "OMIM:611762" MONDO:0012724 "DOID:0090063" MONDO:0012724 "Orphanet:247868" MONDO:0012724 "MESH:C567090" +MONDO:0012724 "ICD10CM:E85.0" MONDO:0012724 "NCIT:C119043" MONDO:0012724 "UMLS:C3897034" MONDO:0012724 "UMLS:C2673198" -MONDO:0030074 "OMIM:618961" NCBITaxon:1489843 "GC_ID:1" +MONDO:0030074 "OMIM:618961" HP:0040126 "UMLS:C4021032" MONDO:0005386 "ICD9:443.81" MONDO:0005386 "MESH:D058729" @@ -6499,28 +6334,28 @@ MONDO:0016953 "Orphanet:262842" MONDO:0016953 "GARD:0005340" MONDO:0016953 "UMLS:C0795805" MONDO:0016953 "MESH:C535367" -MONDO:0019137 "ICD10:G47.2" +MONDO:0019137 "ICD10CM:G47.24" MONDO:0019137 "SCTID:230496009" -MONDO:0019137 "ICD10:G47.24" +MONDO:0019137 "ICD10CM:G47.2" MONDO:0019137 "Orphanet:73267" MONDO:0019137 "GARD:0010949" MONDO:0009142 "MESH:C565608" MONDO:0009142 "OMIM:224550" MONDO:0009142 "UMLS:C1857089" MONDO:0008762 "OMIM:203780" +MONDO:0008762 "ICD10CM:Q87.8" MONDO:0008762 "DOID:0110033" MONDO:0008762 "Orphanet:63" -MONDO:0008762 "ICD10:Q87.8" MONDO:0008762 "Orphanet:88919" MONDO:0008762 "GARD:0000625" MONDO:0008762 "SCTID:717767009" MONDO:0008762 "MedDRA:10001843" +MONDO:0002877 "ICD10CM:C53" MONDO:0002877 "NCIT:C36097" MONDO:0002877 "UMLS:C1332917" MONDO:0002877 "SCTID:764951002" MONDO:0002877 "UMLS:CN201068" MONDO:0002877 "DOID:4112" -MONDO:0002877 "ICD10:C53" MONDO:0002877 "Orphanet:213787" MONDO:0002877 "UMLS:C1516420" MONDO:0000104 "OMIMPS:206100" @@ -6528,11 +6363,9 @@ MONDO:0000104 "MESH:C567144" MONDO:0000104 "UMLS:C2673913" MONDO:0006007 "SCTID:197811007" MONDO:0006007 "DOID:9620" -MONDO:0006007 "ICD10:N13.7" MONDO:0006007 "MESH:D014718" MONDO:0006007 "UMLS:C0042580" MONDO:0006007 "EFO:0007536" -MONDO:0006007 "ICD10:N13.70" MONDO:0006007 "HP:0000076" MONDO:0006007 "NCIT:C84467" MONDO:0006007 "Orphanet:289365" @@ -6548,28 +6381,28 @@ MONDO:0007565 "Orphanet:211" MONDO:0007565 "MESH:C536611" MONDO:0007565 "Orphanet:79493" MONDO:0007565 "GARD:0009707" -MONDO:0019345 "ICD10:A03" MONDO:0019345 "EFO:0005585" +MONDO:0019345 "ICD10CM:A03.9" MONDO:0019345 "MedDRA:10054178" MONDO:0019345 "ICD9:004.1" MONDO:0019345 "ICD9:004.3" MONDO:0019345 "MedDRA:10017915" -MONDO:0019345 "ICD10:A03.2" -MONDO:0019345 "ICD10:A03.8" +MONDO:0019345 "ICD10CM:A03" +MONDO:0019345 "ICD10CM:A03.1" +MONDO:0019345 "ICD10CM:A03.3" MONDO:0019345 "DOID:12385" MONDO:0019345 "Orphanet:810" +MONDO:0019345 "ICD10CM:A03.8" MONDO:0019345 "ICD9:004" MONDO:0019345 "ICD9:004.0" MONDO:0019345 "ICD9:004.2" -MONDO:0019345 "ICD10:A03.1" MONDO:0019345 "SCTID:36188001" MONDO:0019345 "ICD9:004.9" +MONDO:0019345 "ICD10CM:A03.0" +MONDO:0019345 "ICD10CM:A03.2" MONDO:0019345 "MESH:D004405" MONDO:0019345 "GARD:0004818" MONDO:0019345 "KEGG:05131" -MONDO:0019345 "ICD10:A03.0" -MONDO:0019345 "ICD10:A03.3" -MONDO:0019345 "ICD10:A03.9" MONDO:0016179 "Orphanet:209013" MONDO:0005269 "SCTID:371160000" MONDO:0005269 "ICD9:447.9" @@ -6578,19 +6411,19 @@ MONDO:0005269 "NCIT:C84476" MONDO:0005269 "EFO:0003781" MONDO:0005269 "MESH:D002340" MONDO:0005269 "DOID:3407" +MONDO:0016836 "ICD10CM:Q93.5" MONDO:0016836 "UMLS:C4304596" MONDO:0016836 "UMLS:CN202172" MONDO:0016836 "Orphanet:261236" -MONDO:0016836 "ICD10:Q93.5" MONDO:0016836 "SCTID:719577000" MONDO:0003929 "UMLS:C1519982" MONDO:0003929 "NCIT:C40290" MONDO:0003929 "DOID:6569" +MONDO:0019555 "ICD10CM:E88.1" MONDO:0019555 "Orphanet:90159" MONDO:0019555 "UMLS:CN227651" -MONDO:0019555 "ICD10:E88.1" +MONDO:0008645 "ICD10CM:Q87.8" MONDO:0008645 "SCTID:719823007" -MONDO:0008645 "ICD10:Q87.8" MONDO:0008645 "OMIM:192445" MONDO:0008645 "GARD:0005472" MONDO:0008645 "Orphanet:3201" @@ -6612,8 +6445,8 @@ MONDO:0044871 "OMIM:611284" HP:0012532 "UMLS:C0150055" HP:0012532 "MSH:D059350" HP:0012532 "SNOMEDCT_US:82423001" +MONDO:0017440 "ICD10CM:Q71.8" MONDO:0017440 "Orphanet:294973" -MONDO:0017440 "ICD10:Q71.8" MONDO:0004257 "NCIT:C27403" MONDO:0004257 "UMLS:C1332956" MONDO:0004257 "DOID:7516" @@ -6622,9 +6455,9 @@ MONDO:0036976 "NCIT:C4092" MONDO:0036976 "ICDO:8010/0" MONDO:0036976 "ICDO:8011/0" MONDO:0030482 "OMIM:619621" -MONDO:0013000 "ICD10:E80.2" MONDO:0013000 "MESH:C562618" MONDO:0013000 "GARD:0004445" +MONDO:0013000 "ICD10CM:E80.2" MONDO:0013000 "Orphanet:100924" MONDO:0013000 "OMIM:612740" MONDO:0013000 "NCIT:C133887" @@ -6660,10 +6493,10 @@ MONDO:0018881 "DOID:0050908" MONDO:0018881 "UMLS:C3463824" MONDO:0018881 "ICDO:9989/3" MONDO:0018881 "ONCOTREE:MDS" +MONDO:0018881 "ICD10CM:D37-D48" MONDO:0018881 "ICD9:238.75" MONDO:0014441 "UMLS:C2673873" MONDO:0014441 "Orphanet:110" -MONDO:0014441 "ICD10:Q87.89" MONDO:0014441 "OMIM:615990" MONDO:0014441 "DOID:0110135" MONDO:0014441 "MESH:C567140" @@ -6678,20 +6511,19 @@ MONDO:0000477 "SCTID:445006008" MONDO:0000477 "UMLS:C0743332" MONDO:0000477 "DOID:0050836" MONDO:0017098 "Orphanet:268987" +MONDO:0017098 "ICD10CM:Q04.8" MONDO:0017098 "UMLS:CN202455" -MONDO:0017098 "ICD10:Q04.8" MONDO:0015786 "UMLS:CN200368" -MONDO:0015786 "ICD10:Q87.1" MONDO:0015786 "Orphanet:177910" +MONDO:0015786 "ICD10CM:Q87.1" MONDO:0020447 "Orphanet:99118" -MONDO:0020447 "ICD10:Q21.1" +MONDO:0020447 "ICD10CM:Q21.1" MONDO:0007018 "SCTID:63144007" MONDO:0007018 "MedDRA:10047780" MONDO:0007018 "EFO:1001239" MONDO:0007018 "DOID:3901" MONDO:0007018 "MESH:D014847" MONDO:0007018 "UMLS:C0042996" -MONDO:0007018 "ICD10:N76.2" MONDO:0010159 "SCTID:61665008" MONDO:0010159 "GARD:0000420" MONDO:0010159 "MESH:C536928" @@ -6704,13 +6536,13 @@ MONDO:0002656 "NCIT:C4914" MONDO:0002656 "UMLS:C0699893" MONDO:0002656 "DOID:3451" MONDO:0009448 "OMIM:242600" +MONDO:0009448 "ICD10CM:E72.0" MONDO:0009448 "MESH:C536285" MONDO:0009448 "ICD9:270.8" MONDO:0009448 "Orphanet:42062" MONDO:0009448 "GARD:0008424" MONDO:0009448 "SCTID:84121007" MONDO:0009448 "UMLS:C0268654" -MONDO:0009448 "ICD10:E72.0" HP:0002912 "SNOMEDCT_US:42393006" HP:0002912 "MSH:C537358" HP:0002912 "UMLS:C0268583" @@ -6726,52 +6558,52 @@ MONDO:0011101 "OMIM:601539" MONDO:0011101 "UMLS:C0282527" MONDO:0010545 "ICD9:759.89" MONDO:0010545 "UMLS:C0796085" -MONDO:0010545 "Orphanet:627" MONDO:0010545 "OMIM:302350" +MONDO:0010545 "Orphanet:627" MONDO:0010545 "SCTID:445257004" -MONDO:0010545 "ICD10:Q87.0" MONDO:0010545 "GARD:0007161" MONDO:0010545 "DOID:0060599" MONDO:0010545 "MESH:C538336" +MONDO:0010545 "ICD10CM:Q87.0" MONDO:0010721 "GARD:0007559" MONDO:0010721 "OMIM:312500" MONDO:0010721 "UMLS:C0035288" MONDO:0010721 "MESH:C538362" MONDO:0021527 "NCIT:C4957" -MONDO:0021527 "ICD10:D32" MONDO:0021527 "SCTID:109913001" +MONDO:0021527 "ICD10CM:D32" MONDO:0021527 "UMLS:C0348426" +MONDO:0009377 "ICD10CM:E72.2" MONDO:0009377 "MESH:C536109" MONDO:0009377 "OMIM:237310" MONDO:0009377 "SCTID:57119000" MONDO:0009377 "GARD:0007158" MONDO:0009377 "Orphanet:927" -MONDO:0009377 "ICD10:E72.2" MONDO:0009377 "NCIT:C129307" +MONDO:0017169 "ICD10CM:D44.8" MONDO:0017169 "ICDO:8360/1" MONDO:0017169 "MedDRA:10061299" MONDO:0017169 "UMLS:C0027662" MONDO:0017169 "OMIMPS:131100" MONDO:0017169 "Orphanet:276161" -MONDO:0017169 "ICD10:D44.8" MONDO:0017169 "NCIT:C6432" MONDO:0017169 "ICD9:258.0" MONDO:0017169 "SCTID:46724008" -MONDO:0012726 "ICD10:I99" MONDO:0012726 "MESH:C567088" MONDO:0012726 "ICD9:758.89" MONDO:0012726 "GARD:0010889" MONDO:0012726 "Orphanet:73229" MONDO:0012726 "SCTID:702428000" MONDO:0012726 "UMLS:C2673195" +MONDO:0012726 "ICD10CM:I99" MONDO:0012726 "OMIM:611773" MONDO:0017826 "Orphanet:314790" MONDO:0017826 "UMLS:CN203796" -MONDO:0017826 "ICD10:D35.2" +MONDO:0017826 "ICD10CM:D35.2" MONDO:0007680 "GARD:0001671" MONDO:0007680 "OMIM:138790" MONDO:0007680 "Orphanet:2091" -MONDO:0007680 "ICD10:Q87.8" +MONDO:0007680 "ICD10CM:Q87.8" MONDO:0007680 "SCTID:723409007" MONDO:0007680 "MESH:C535986" MONDO:0007680 "UMLS:C1841853" @@ -6783,7 +6615,7 @@ MONDO:0004947 "DOID:0080630" MONDO:0000698 "DOID:0060176" MONDO:0021642 "HP:0100677" MONDO:0021642 "ICD9:456.6" -MONDO:0021642 "ICD10:I86.3" +MONDO:0021642 "ICD10CM:I86.3" MONDO:0021642 "UMLS:C0155796" MONDO:0021642 "SCTID:48868008" MONDO:0013298 "SCTID:716683005" @@ -6792,33 +6624,32 @@ MONDO:0013298 "OMIM:613533" MONDO:0013298 "UMLS:C4274345" MONDO:0013298 "Orphanet:217340" MONDO:0013298 "UMLS:C3150787" -MONDO:0013298 "ICD10:Q92.3" -MONDO:0011986 "ICD10:K86.1" MONDO:0011986 "Orphanet:103918" MONDO:0011986 "OMIM:608189" +MONDO:0011986 "ICD10CM:K86.1" MONDO:0011986 "UMLS:C1842402" -MONDO:0011986 "UMLS:C4510860" MONDO:0011986 "SCTID:724540009" +MONDO:0011986 "UMLS:C4510860" MONDO:0011986 "MESH:C564276" MONDO:0012932 "OMIM:612554" MONDO:0012932 "UMLS:C2675523" MONDO:0012932 "MESH:C567259" MONDO:0008365 "SCTID:718189004" -MONDO:0008365 "ICD10:Q99.8" MONDO:0008365 "GARD:0009698" MONDO:0008365 "OMIM:179613" MONDO:0008365 "MESH:C535296" +MONDO:0008365 "ICD10CM:Q99.8" MONDO:0008365 "Orphanet:96167" MONDO:0008365 "UMLS:C0795822" +MONDO:0018430 "ICD10CM:Q04.3" MONDO:0018430 "Orphanet:401959" MONDO:0018430 "UMLS:CN226145" -MONDO:0018430 "ICD10:Q04.3" MONDO:0005551 "EFO:0005751" MONDO:0007751 "OMIM:144010" MONDO:0007751 "SCTID:238081000" +MONDO:0013306 "ICD10CM:G31.8" MONDO:0013306 "SCTID:763204003" MONDO:0013306 "OMIM:613559" -MONDO:0013306 "ICD10:G31.8" MONDO:0013306 "Orphanet:254930" MONDO:0013306 "UMLS:C3150801" MONDO:0013306 "DOID:0111487" @@ -6826,7 +6657,6 @@ MONDO:0003249 "ICD9:194.4" MONDO:0003249 "NCIT:C6965" MONDO:0003249 "DOID:5032" MONDO:0003249 "NCIT:C3328" -MONDO:0003249 "ICD10:C75.3" MONDO:0003249 "UMLS:C0031941" MONDO:0003249 "SCTID:363483004" MONDO:0003249 "NCIT:C3573" @@ -6839,14 +6669,13 @@ MONDO:0044721 "UMLS:C4479588" MONDO:0044721 "Orphanet:504523" MONDO:0024677 "EFO:0000549" MONDO:0024677 "MESH:D007340" +MONDO:0024677 "ICD10CM:E16.8" MONDO:0024677 "DOID:3892" MONDO:0024677 "MedDRA:10022498" MONDO:0024677 "SCTID:302822000" MONDO:0024677 "HP:0012197" -MONDO:0024677 "ICD10:E16.8" MONDO:0024677 "NCIT:C95598" MONDO:0024677 "GARD:0003010" -MONDO:0006625 "ICD10:T70.2" MONDO:0006625 "EFO:1000782" MONDO:0006625 "Wikipedia:Altitude_sickness" MONDO:0006625 "MESH:D000532" @@ -6855,8 +6684,8 @@ MONDO:0010051 "Orphanet:3011" MONDO:0010051 "UMLS:C1849112" MONDO:0010051 "OMIM:270950" MONDO:0010051 "MESH:C564808" -MONDO:0006992 "ICD10:A52.02" MONDO:0006992 "EFO:1001206" +MONDO:0006992 "ICD10CM:A52.02" MONDO:0006992 "ICD9:093.1" MONDO:0006992 "SCTID:20735004" MONDO:0006992 "UMLS:C0003511" @@ -6879,29 +6708,27 @@ MONDO:0001467 "ICD9:727.2" MONDO:0015218 "Orphanet:108987" MONDO:0015218 "UMLS:CN226635" MONDO:0016776 "SCTID:717055000" +MONDO:0016776 "ICD10CM:L66.1" MONDO:0016776 "UMLS:C4255374" MONDO:0016776 "GARD:0010886" MONDO:0016776 "Orphanet:254492" -MONDO:0016776 "ICD10:L66.1" MONDO:0017418 "Orphanet:294422" MONDO:0017418 "SCTID:716665002" MONDO:0017418 "UMLS:C4274352" MONDO:0017418 "UMLS:CN203168" MONDO:0018976 "GARD:0000246" MONDO:0018976 "UMLS:C2931271" -MONDO:0018976 "ICD10:Q87.8" +MONDO:0018976 "ICD10CM:Q87.8" MONDO:0018976 "MESH:C536633" MONDO:0018976 "SCTID:718095000" MONDO:0018976 "Orphanet:63862" -MONDO:0004843 "ICD10:H55.00" MONDO:0004843 "UMLS:C0028738" MONDO:0004843 "NCIT:C3282" MONDO:0004843 "DOID:9650" MONDO:0004843 "MESH:D009759" MONDO:0004843 "ICD9:379.50" -MONDO:0004843 "ICD10:H55.0" MONDO:0016531 "Orphanet:238" -MONDO:0016531 "ICD10:Q45.8" +MONDO:0016531 "ICD10CM:Q45.8" MONDO:0013653 "UMLS:C3280271" MONDO:0013653 "OMIM:614251" MONDO:0013653 "Orphanet:411602" @@ -6915,8 +6742,8 @@ MONDO:0011492 "OMIM:604830" NCBITaxon:83136 "GC_ID:1" MONDO:0015426 "UMLS:CN239270" MONDO:0015426 "ICD9:756.9" -MONDO:0015426 "ICD10:Q78.8" MONDO:0015426 "GARD:0001818" +MONDO:0015426 "ICD10CM:Q78.8" MONDO:0015426 "OMIMPS:251450" MONDO:0015426 "OMIM:300881" MONDO:0015426 "SCTID:254099008" @@ -6937,18 +6764,17 @@ MONDO:0003982 "UMLS:C0281267" MONDO:0003982 "DOID:6741" MONDO:0003982 "NCIT:C8287" MONDO:0016659 "UMLS:CN201889" -MONDO:0016659 "ICD10:Q92.3" MONDO:0016659 "GARD:0010304" MONDO:0016659 "Orphanet:251076" MONDO:0016659 "SCTID:765140006" -MONDO:0018022 "ICD10:D56.8" MONDO:0018022 "Orphanet:330032" +MONDO:0018022 "ICD10CM:D56.8" MONDO:0018022 "UMLS:CN227251" MONDO:0007112 "UMLS:C1387721" MONDO:0007112 "MESH:C563239" MONDO:0007112 "Orphanet:99092" MONDO:0007112 "OMIM:105805" -MONDO:0007112 "ICD10:Q21.0" +MONDO:0007112 "ICD10CM:Q21.0" NCBITaxon:11270 "PMID:16186241" NCBITaxon:11270 "GC_ID:1" MONDO:0004726 "SCTID:717329009" @@ -6972,17 +6798,16 @@ MONDO:0010480 "Orphanet:466026" MONDO:0016030 "GARD:0006389" MONDO:0016030 "MESH:C536380" MONDO:0016030 "NCIT:C61284" -MONDO:0016030 "ICD10:D69.3" +MONDO:0016030 "ICD10CM:D69.3" MONDO:0016030 "UMLS:C0272126" +MONDO:0016030 "ICD10CM:D69.41" MONDO:0016030 "Orphanet:1959" -MONDO:0016030 "ICD10:D69.41" MONDO:0016030 "DOID:8931" MONDO:0016030 "ICD9:287.32" MONDO:0016030 "SCTID:75331009" MONDO:0016030 "MedDRA:10053873" MONDO:0019547 "GARD:0000329" MONDO:0019547 "SCTID:238931006" -MONDO:0019547 "ICD10:L98.3" MONDO:0019547 "UMLS:C0343101" MONDO:0019547 "MESH:C536693" MONDO:0019547 "ICD9:682.9" @@ -6991,9 +6816,9 @@ MONDO:0005708 "SCTID:6452009" MONDO:0005708 "MESH:D003121" MONDO:0005708 "Orphanet:83595" MONDO:0005708 "MedDRA:10010022" +MONDO:0005708 "ICD10CM:A93.2" MONDO:0005708 "EFO:0007213" MONDO:0005708 "DOID:4885" -MONDO:0005708 "ICD10:A93.2" MONDO:0005708 "ICD9:066.1" MONDO:0005708 "UMLS:C0009400" NCBITaxon:119225 "GC_ID:1" @@ -7002,14 +6827,14 @@ MONDO:0000338 "UMLS:C1812609" MONDO:0000338 "ICD9:050.0" MONDO:0000338 "SCTID:47452006" CL:0000319 "BTO:0003689" +MONDO:0010547 "ICD10CM:G11.1" MONDO:0010547 "UMLS:C0796205" MONDO:0010547 "MESH:C563134" MONDO:0010547 "OMIM:302500" -MONDO:0010547 "ICD10:G11.1" MONDO:0010547 "Orphanet:1175" MONDO:0017263 "Orphanet:281085" MONDO:0015647 "Orphanet:166424" -MONDO:0015647 "ICD10:G40.8" +MONDO:0015647 "ICD10CM:G40.8" MONDO:0015647 "UMLS:CN200057" MONDO:0015647 "SCTID:763622006" MONDO:0009227 "OMIM:228550" @@ -7029,8 +6854,8 @@ MONDO:0010324 "OMIM:300433" MONDO:0011882 "MESH:C564359" MONDO:0011882 "Orphanet:293165" MONDO:0011882 "GARD:0005231" +MONDO:0011882 "ICD10CM:Q82.8" MONDO:0011882 "UMLS:C1843292" -MONDO:0011882 "ICD10:Q82.8" MONDO:0011882 "OMIM:607655" MONDO:0020937 "OMIMPS:178110" MONDO:0004949 "ICD9:202.0" @@ -7047,37 +6872,37 @@ MONDO:0004949 "DOID:0050873" MONDO:0004949 "NCIT:C3457" MONDO:0044324 "OMIM:617694" MONDO:0044324 "UMLS:CN502749" -MONDO:0016251 "ICD10:C50.8" +MONDO:0016251 "ICD10CM:C50.8" MONDO:0016251 "SCTID:716593008" +MONDO:0016251 "ICD10CM:C50.1" MONDO:0016251 "Orphanet:213557" -MONDO:0016251 "ICD10:C50.2" -MONDO:0016251 "ICD10:C50.5" +MONDO:0016251 "ICD10CM:C50.6" MONDO:0016251 "GARD:0012774" -MONDO:0016251 "ICD10:C50.1" -MONDO:0016251 "ICD10:C50.4" -MONDO:0016251 "ICD10:C50.6" -MONDO:0016251 "ICD10:C50.0" -MONDO:0016251 "ICD10:C50.3" +MONDO:0016251 "ICD10CM:C50.0" +MONDO:0016251 "ICD10CM:C50.3" +MONDO:0016251 "ICD10CM:C50.5" +MONDO:0016251 "ICD10CM:C50.2" +MONDO:0016251 "ICD10CM:C50.4" MONDO:0011988 "Orphanet:183707" +MONDO:0011988 "ICD10CM:D71" MONDO:0011988 "UMLS:C1842398" MONDO:0011988 "SCTID:723443003" -MONDO:0011988 "ICD10:D71" MONDO:0011988 "OMIM:608203" MONDO:0011988 "MESH:C564275" MONDO:0019768 "Orphanet:93947" MONDO:0019768 "UMLS:CN206703" +MONDO:0017334 "ICD10CM:Q93.5" MONDO:0017334 "UMLS:CN202984" MONDO:0017334 "Orphanet:289513" MONDO:0017334 "SCTID:734030009" -MONDO:0017334 "ICD10:Q93.5" MONDO:0017334 "UMLS:C4518344" MONDO:0008215 "SCTID:448054001" MONDO:0008215 "GARD:0010587" -MONDO:0008215 "ICD10:E75.2" MONDO:0008215 "OMIM:169500" MONDO:0008215 "Orphanet:99027" MONDO:0008215 "MESH:C566813" MONDO:0008215 "DOID:0060785" +MONDO:0008215 "ICD10CM:E75.2" MONDO:0012934 "Orphanet:67038" MONDO:0012934 "OMIM:612557" MONDO:0008858 "UMLS:C0221061" @@ -7085,19 +6910,19 @@ MONDO:0008858 "SCTID:718221007" MONDO:0008858 "Orphanet:1239" MONDO:0008858 "MESH:C537669" MONDO:0008858 "OMIM:210000" -MONDO:0008858 "ICD10:H35.5" MONDO:0008858 "DOID:0111580" MONDO:0008858 "GARD:0000849" +MONDO:0008858 "ICD10CM:H35.5" MONDO:0002175 "SCTID:267611002" MONDO:0002175 "UMLS:C0339436" MONDO:0002175 "ICD9:362.5" -MONDO:0002175 "ICD10:H35.3" +MONDO:0002175 "ICD10CM:H35.3" MONDO:0002175 "DOID:2007" +MONDO:0011765 "ICD10CM:Q77.3" MONDO:0011765 "DOID:0070299" MONDO:0011765 "MESH:C535505" MONDO:0011765 "UMLS:C1846843" MONDO:0011765 "SCTID:715674008" -MONDO:0011765 "ICD10:Q77.3" MONDO:0011765 "OMIM:607078" MONDO:0011765 "UMLS:C4275060" MONDO:0011765 "Orphanet:93311" @@ -7115,13 +6940,13 @@ MONDO:0020068 "MedDRA:10057235" MONDO:0020068 "UMLS:C0393459" MONDO:0020068 "SCTID:192727001" MONDO:0020068 "Orphanet:98253" -MONDO:0019605 "ICD10:N03.6" +MONDO:0019605 "ICD10CM:N03.6" MONDO:0019605 "Orphanet:91137" MONDO:0019605 "GARD:0012741" MONDO:0013308 "Orphanet:363972" MONDO:0013308 "OMIM:613563" +MONDO:0013308 "ICD10CM:Q87.1" MONDO:0013308 "UMLS:C4016301" -MONDO:0013308 "ICD10:Q87.1" MONDO:0013308 "UMLS:C3150803" MONDO:0002383 "NCIT:C4328" MONDO:0002383 "ICD9:215.9" @@ -7130,43 +6955,43 @@ MONDO:0002383 "SCTID:404033003" MONDO:0002383 "DOID:2669" MONDO:0002383 "ICDO:9507/0" MONDO:0002012 "UMLS:C1855119" +MONDO:0002012 "ICD10CM:E71.120" MONDO:0002012 "NCIT:C98986" MONDO:0002012 "GARD:0007033" MONDO:0002012 "DOID:14749" MONDO:0002012 "UMLS:C0268583" MONDO:0002012 "SCTID:42393006" MONDO:0002012 "ICD9:270.7" -MONDO:0002012 "ICD10:E71.120" MONDO:0018408 "SCTID:75006000" -MONDO:0018408 "ICD10:B67.1" MONDO:0018408 "UMLS:C0013502" +MONDO:0018408 "ICD10CM:B67.4" MONDO:0018408 "MedDRA:10014096" -MONDO:0018408 "ICD10:B67.6" +MONDO:0018408 "ICD10CM:B67.8" +MONDO:0018408 "ICD10CM:B67.0" MONDO:0018408 "Orphanet:400" -MONDO:0018408 "ICD10:B67.3" -MONDO:0018408 "ICD10:B67.9" MONDO:0018408 "UMLS:C0152068" MONDO:0018408 "GARD:0002764" -MONDO:0018408 "ICD10:B67.2" MONDO:0018408 "MESH:D004443" +MONDO:0018408 "ICD10CM:B67.5" +MONDO:0018408 "ICD10CM:B67.9" MONDO:0018408 "UMLS:C0153290" -MONDO:0018408 "ICD10:B67.4" +MONDO:0018408 "ICD10CM:B67.1" MONDO:0018408 "SCTID:721822004" -MONDO:0018408 "ICD10:B67.7" MONDO:0018408 "DOID:1495" -MONDO:0018408 "ICD10:B67.0" +MONDO:0018408 "ICD10CM:B67.6" MONDO:0018408 "UMLS:C0153291" -MONDO:0018408 "ICD10:B67.5" -MONDO:0018408 "ICD9:122.4" +MONDO:0018408 "ICD10CM:B67.3" +MONDO:0018408 "ICD10CM:B67.7" MONDO:0018408 "UMLS:C4303092" -MONDO:0018408 "ICD10:B67.8" +MONDO:0018408 "ICD9:122.4" +MONDO:0018408 "ICD10CM:B67.2" MONDO:0033544 "OMIM:618971" MONDO:0044264 "OMIM:312200" NCBITaxon:122354 "GC_ID:1" MONDO:0017692 "UMLS:C0574089" MONDO:0017692 "SCTID:297237003" MONDO:0017692 "Orphanet:308487" -MONDO:0017692 "ICD10:E74.2" +MONDO:0017692 "ICD10CM:E74.2" MONDO:0004201 "DOID:7378" MONDO:0004201 "UMLS:C0948740" MONDO:0004201 "NCIT:C27343" @@ -7181,15 +7006,15 @@ MONDO:0014643 "UMLS:C4225323" HP:0002904 "UMLS:C0311468" HP:0002904 "SNOMEDCT_US:26165005" MONDO:0020383 "Orphanet:99004" +MONDO:0020383 "ICD10CM:H35.5" MONDO:0020383 "UMLS:CN207257" -MONDO:0020383 "ICD10:H35.5" HP:0100496 "UMLS:C4022040" MONDO:0018920 "ICD9:674.54" MONDO:0018920 "GARD:0000220" +MONDO:0018920 "ICD10CM:O90.3" MONDO:0018920 "Orphanet:563" MONDO:0018920 "SCTID:62377009" MONDO:0018920 "UMLS:C0269972" -MONDO:0018920 "ICD10:O90.3" MONDO:0018920 "MedDRA:10049430" MONDO:0018920 "EFO:0002628" MONDO:0018920 "ICD9:674.5" @@ -7204,12 +7029,10 @@ MONDO:0003761 "SCTID:277530005" MONDO:0003761 "NCIT:C5317" MONDO:0003414 "SCTID:307610008" MONDO:0003414 "Orphanet:499182" -MONDO:0003414 "ICD10:C44.3" MONDO:0003414 "UMLS:C0585475" MONDO:0003414 "NCIT:C4114" MONDO:0003414 "DOID:5376" MONDO:0003414 "ICDO:8110/3" -MONDO:0003414 "ICD10:C44.4" NCBITaxon:1639119 "GC_ID:1" MONDO:0014749 "OMIM:616724" MONDO:0014749 "UMLS:C4225231" @@ -7219,42 +7042,41 @@ MONDO:0006133 "DOID:4867" MONDO:0006133 "ONCOTREE:CACC" MONDO:0006133 "NCIT:C6346" MONDO:0006133 "EFO:1000161" -MONDO:0020289 "ICD10:Q22.5" -MONDO:0020289 "ICD10:Q22.9" MONDO:0020289 "Orphanet:98721" +MONDO:0020289 "ICD10CM:Q22.4" MONDO:0020289 "HP:0001702" -MONDO:0020289 "ICD10:Q22.4" -MONDO:0020289 "ICD10:Q22.8" +MONDO:0020289 "ICD10CM:Q22.5" +MONDO:0020289 "ICD10CM:Q22.8" +MONDO:0020289 "ICD10CM:Q22.9" MONDO:0014526 "OMIM:616199" MONDO:0014526 "UMLS:C4015452" +MONDO:0014526 "ICD10CM:E74.0" MONDO:0014526 "Orphanet:456369" -MONDO:0014526 "ICD10:E74.0" +MONDO:0022109 "OMIM:116850" MONDO:0022109 "UMLS:C1861799" MONDO:0022109 "GARD:0010080" MONDO:0022109 "MESH:C535346" MONDO:0018274 "UMLS:CN204860" -MONDO:0018274 "ICD10:E77.8" MONDO:0018274 "Orphanet:171714" MONDO:0018274 "Orphanet:370933" MONDO:0018274 "SCTID:722762005" MONDO:0018274 "DOID:0060470" +MONDO:0018274 "ICD10CM:E77.8" MONDO:0018274 "GARD:0012059" MONDO:0018274 "Orphanet:370938" MONDO:0018274 "UMLS:C1836824" MONDO:0018274 "OMIM:609056" +MONDO:0022888 "GARD:0001584" MONDO:0004446 "MESH:D008579" MONDO:0004446 "NCIT:C6771" MONDO:0004446 "DOID:8057" MONDO:0004446 "UMLS:C1335107" -MONDO:0022888 "GARD:0001584" MONDO:0001632 "MESH:D002537" MONDO:0001632 "DOID:13097" MONDO:0001632 "UMLS:C0007771" MONDO:0003832 "UMLS:C0272242" -MONDO:0003832 "ICD10:D84.1" MONDO:0003832 "NCIT:C4691" MONDO:0003832 "DOID:626" -MONDO:0003832 "ICD10:D80-D89" MONDO:0003832 "SCTID:24743004" MONDO:0003832 "Orphanet:459345" MONDO:0003832 "ICD9:279.8" @@ -7262,18 +7084,18 @@ MONDO:0007574 "OMIM:133190" MONDO:0007574 "SCTID:719255000" MONDO:0007574 "Orphanet:1955" MONDO:0007574 "DOID:0050981" +MONDO:0007574 "ICD10CM:G11.1" MONDO:0007574 "GARD:0000059" MONDO:0007574 "MESH:C535738" -MONDO:0007574 "ICD10:G11.1" MONDO:0007574 "UMLS:C1851481" MONDO:0043135 "GARD:0003629" MONDO:0043135 "UMLS:C2931526" MONDO:0043135 "MESH:C537541" MONDO:0008905 "GARD:0001077" +MONDO:0008905 "ICD10CM:D84.8" MONDO:0008905 "Orphanet:457088" MONDO:0008905 "UMLS:C1859353" MONDO:0008905 "OMIM:212050" -MONDO:0008905 "ICD10:D84.8" MONDO:0020780 "OMIM:618358" MONDO:0012568 "OMIM:610839" MONDO:0012568 "UMLS:C1835815" @@ -7295,8 +7117,8 @@ MONDO:0005887 "ICD9:528.9" MONDO:0001990 "UMLS:C1334569" MONDO:0001990 "NCIT:C5367" MONDO:0001990 "DOID:14534" +MONDO:0017113 "ICD10CM:Q04.3" MONDO:0017113 "Orphanet:269221" -MONDO:0017113 "ICD10:Q04.3" MONDO:0005004 "ICDO:8310/3" MONDO:0005004 "UMLS:C0206681" MONDO:0005004 "EFO:0000348" @@ -7309,13 +7131,13 @@ MONDO:0013172 "UMLS:C2750798" MONDO:0013172 "MESH:C567715" MONDO:0013172 "Orphanet:250972" MONDO:0013172 "OMIM:613180" -MONDO:0012755 "SCTID:718752007" MONDO:0012755 "DOID:0050995" -MONDO:0012755 "ICD10:G11.8" +MONDO:0012755 "SCTID:718752007" MONDO:0012755 "MESH:C567459" MONDO:0012755 "UMLS:C2677843" MONDO:0012755 "Orphanet:209970" MONDO:0012755 "OMIM:611907" +MONDO:0012755 "ICD10CM:G11.8" MONDO:0012067 "OMIM:608584" MONDO:0012067 "UMLS:C1837811" MONDO:0011297 "OMIM:603204" @@ -7335,8 +7157,8 @@ MONDO:0018515 "NCIT:C5554" MONDO:0018515 "Orphanet:424002" MONDO:0018515 "SCTID:766979005" MONDO:0018515 "UMLS:C1335690" -MONDO:0018515 "ICD10:C20" MONDO:0018515 "DOID:5528" +MONDO:0018515 "ICD10CM:C20" MONDO:0000503 "UMLS:C0854971" MONDO:0000503 "ONCOTREE:LAIS" MONDO:0000503 "DOID:0050870" @@ -7364,21 +7186,19 @@ MONDO:0014001 "OMIM:614990" MONDO:0014001 "DOID:0110837" MONDO:0014001 "Orphanet:886" MONDO:0014001 "Orphanet:231169" -MONDO:0014001 "ICD10:H35.5" MONDO:0014001 "UMLS:C3539124" MONDO:0010973 "UMLS:C1832932" MONDO:0010973 "OMIM:600994" MONDO:0010973 "DOID:0110575" -MONDO:0010973 "ICD10:H90.3" MONDO:0010973 "MESH:C563410" MONDO:0032710 "OMIM:618374" HP:0011122 "UMLS:C4023527" HP:0011996 "UMLS:C4021106" MONDO:0010285 "GARD:0009157" -MONDO:0010285 "ICD10:Q87.8" MONDO:0010285 "OMIM:300262" MONDO:0010285 "UMLS:C1846056" MONDO:0010285 "DOID:0060818" +MONDO:0010285 "ICD10CM:Q87.8" MONDO:0010285 "MESH:C535556" MONDO:0010285 "Orphanet:85273" MONDO:0044912 "SCTID:94600009" @@ -7388,9 +7208,9 @@ MONDO:0013684 "OMIM:614319" MONDO:0013684 "UMLS:C3280441" MONDO:0013684 "Orphanet:289365" MONDO:0009093 "SCTID:733044009" -MONDO:0009093 "ICD10:E75.2" MONDO:0009093 "Orphanet:1659" MONDO:0009093 "OMIM:221790" +MONDO:0009093 "ICD10CM:E75.2" MONDO:0009093 "GARD:0001813" MONDO:0009093 "MESH:C538220" MONDO:0009093 "UMLS:C1857314" @@ -7398,9 +7218,9 @@ MONDO:0015342 "UMLS:C0270627" MONDO:0015342 "Orphanet:139417" MONDO:0015342 "ICD9:323.9" MONDO:0015342 "NCIT:C128378" -MONDO:0015342 "ICD10:G37.3" MONDO:0015342 "MESH:D009188" MONDO:0015342 "SCTID:47000000" +MONDO:0015342 "ICD10CM:G37.3" MONDO:0015342 "ICD9:341.20" MONDO:0012464 "Orphanet:1872" MONDO:0012464 "DOID:0111017" @@ -7419,7 +7239,7 @@ MONDO:0030523 "OMIM:619697" MONDO:0015628 "Orphanet:166084" MONDO:0015628 "UMLS:C1282968" MONDO:0015628 "SCTID:359714009" -MONDO:0015628 "ICD10:D68.0" +MONDO:0015628 "ICD10CM:D68.0" MONDO:0015628 "NCIT:C131686" MONDO:0015628 "OMIM:613554" MONDO:0018053 "Orphanet:33364" @@ -7429,12 +7249,12 @@ MONDO:0018053 "OMIMPS:601675" MONDO:0018053 "OMIM:601675" MONDO:0018053 "MedDRA:10044628" MONDO:0018053 "UMLS:C1955934" +MONDO:0018053 "ICD10CM:L67.8" MONDO:0018053 "OMIM:616395" MONDO:0018053 "OMIM:300953" MONDO:0018053 "OMIM:616390" MONDO:0018053 "OMIM:234050" MONDO:0018053 "NCIT:C4924" -MONDO:0018053 "ICD10:L67.8" MONDO:0018053 "SCTID:723551003" MONDO:0010168 "GARD:0005435" MONDO:0010168 "DOID:0110826" @@ -7446,10 +7266,10 @@ MONDO:0010168 "SCTID:232057003" MONDO:0010168 "OMIM:276904" MONDO:0010168 "OMIM:601067" MONDO:0010168 "OMIM:612632" +MONDO:0010168 "ICD10CM:H35.5" MONDO:0010168 "NCIT:C126327" MONDO:0010168 "OMIM:602083" MONDO:0010168 "OMIM:614869" -MONDO:0010168 "ICD10:H35.5" MONDO:0010168 "Orphanet:231169" MONDO:0010168 "GARD:0005436" MONDO:0010168 "Orphanet:886" @@ -7464,16 +7284,14 @@ MONDO:0005308 "GTR:AN0966173" MONDO:0005308 "Orphanet:363250" MONDO:0001411 "MESH:D013580" MONDO:0001411 "DOID:11971" -MONDO:0004592 "ICD10:L01" MONDO:0004592 "EFO:1000714" MONDO:0004592 "ICD9:684" MONDO:0004592 "DOID:8504" MONDO:0004592 "SCTID:48277006" MONDO:0004592 "NCIT:C99088" +MONDO:0004592 "ICD10CM:L01" MONDO:0004592 "MESH:D007169" -MONDO:0004592 "ICD10:L01.0" MONDO:0004592 "UMLS:C0021099" -MONDO:0004592 "ICD10:L01.00" MONDO:0012347 "MESH:C565226" MONDO:0012347 "OMIM:609808" MONDO:0012347 "UMLS:C1853298" @@ -7481,7 +7299,7 @@ MONDO:0019042 "Orphanet:68341" MONDO:0016095 "NCIT:C128080" MONDO:0016095 "SCTID:766759009" MONDO:0016095 "Orphanet:206492" -MONDO:0016095 "ICD10:C52" +MONDO:0016095 "ICD10CM:C52" MONDO:0016095 "UMLS:C4288035" MONDO:0015982 "Orphanet:183757" MONDO:0015982 "UMLS:CN226821" @@ -7501,10 +7319,10 @@ HP:0000044 "SNOMEDCT_US:33927004" MONDO:0100253 "OMIM:268300" MONDO:0100253 "NCIT:C4681" MONDO:0020454 "Orphanet:99129" -MONDO:0020454 "ICD10:Q24.8" -MONDO:0017497 "ICD10:Q72.1" +MONDO:0020454 "ICD10CM:Q24.8" +MONDO:0017497 "ICD10CM:Q72.13" +MONDO:0017497 "ICD10CM:Q72.1" MONDO:0017497 "Orphanet:295091" -MONDO:0017497 "ICD10:Q72.13" MONDO:0014970 "UMLS:C4310666" MONDO:0014970 "OMIM:617214" MONDO:0014970 "DOID:0070174" @@ -7516,9 +7334,9 @@ MONDO:0011921 "UMLS:C1842937" MONDO:0011921 "Orphanet:141074" MONDO:0007177 "OMIM:109000" MONDO:0007177 "Orphanet:114" -MONDO:0007177 "ICD10:Q87.5" MONDO:0007177 "MESH:C538271" MONDO:0007177 "GARD:0008663" +MONDO:0007177 "ICD10CM:Q87.5" MONDO:0007177 "UMLS:C1862381" NCBITaxon:36734 "GC_ID:1" MONDO:0003280 "DOID:5112" @@ -7530,15 +7348,14 @@ MONDO:0021957 "MESH:C537298" MONDO:0021957 "UMLS:C2931470" MONDO:0000894 "DOID:0080185" MONDO:0004611 "UMLS:C0153376" -MONDO:0004611 "ICD10:C05.1" MONDO:0004611 "DOID:8578" MONDO:0004611 "ICD9:145.3" MONDO:0004611 "NCIT:C3529" MONDO:0004611 "SCTID:363388009" +MONDO:0004611 "ICD10CM:C05.1" MONDO:0006797 "MedDRA:10020839" MONDO:0006797 "MESH:D058437" MONDO:0006797 "EFO:1000977" -MONDO:0006797 "ICD10:H35.03" MONDO:0006797 "ICD9:362.11" MONDO:0006797 "DOID:11561" MONDO:0006797 "NCIT:C3514" @@ -7546,10 +7363,11 @@ MONDO:0006797 "UMLS:C0152132" MONDO:0006797 "SCTID:6962006" MONDO:0007743 "OMIM:143465" MONDO:0007743 "NCIT:C97160" +MONDO:0007743 "ICD10CM:F90-98" +MONDO:0010576 "ICD10CM:H90.8" MONDO:0010576 "ICD9:389.1" MONDO:0010576 "ICD9:389.14" MONDO:0010576 "ICD9:389.10" -MONDO:0010576 "ICD10:H90.5" MONDO:0010576 "MESH:D006319" MONDO:0010576 "GARD:0004504" MONDO:0010576 "EFO:1001176" @@ -7557,10 +7375,8 @@ MONDO:0010576 "MedDRA:10040016" MONDO:0010576 "Orphanet:383" MONDO:0010576 "OMIM:304400" MONDO:0010576 "GARD:0001694" -MONDO:0010576 "ICD10:H91.9" MONDO:0010576 "UMLS:C1844678" MONDO:0010576 "DOID:10003" -MONDO:0010576 "ICD10:H90.8" MONDO:0014392 "GARD:0012901" MONDO:0014392 "Orphanet:442835" MONDO:0014392 "UMLS:C4014621" @@ -7572,14 +7388,13 @@ MONDO:0020641 "EFO:0003853" MONDO:0020641 "SCTID:126667002" MONDO:0019471 "SCTID:110007008" MONDO:0019471 "GARD:0013103" -MONDO:0019471 "ICD10:C91.50" MONDO:0019471 "Orphanet:86875" MONDO:0019471 "UMLS:C0023493" -MONDO:0019471 "ICD10:C91.5" MONDO:0019471 "MedDRA:10001413" MONDO:0019471 "ICD9:204.80" MONDO:0019471 "DOID:0050523" MONDO:0019471 "ONCOTREE:ATLL" +MONDO:0019471 "ICD10CM:C91.5" MONDO:0019471 "ICDO:9827/3" MONDO:0019471 "NCIT:C3184" MONDO:0054573 "OMIM:617435" @@ -7616,20 +7431,20 @@ MONDO:0008771 "DOID:0110066" MONDO:0008771 "Orphanet:171836" MONDO:0008771 "ICD9:520.5" MONDO:0008771 "GARD:0000646" -MONDO:0008771 "ICD10:K00.5" MONDO:0008771 "Orphanet:1031" MONDO:0008771 "GARD:0009860" MONDO:0008771 "MESH:C538241" +MONDO:0008771 "ICD10CM:K00.5" MONDO:0008771 "OMIM:614253" MONDO:0011180 "MESH:C566588" MONDO:0011180 "OMIM:602071" MONDO:0011180 "UMLS:C1865923" MONDO:0017731 "Orphanet:309279" -MONDO:0017731 "ICD10:E77.1" -MONDO:0017731 "ICD10:E77.8" +MONDO:0017731 "ICD10CM:E77.0" MONDO:0017731 "GARD:0010670" -MONDO:0017731 "ICD10:E77.9" -MONDO:0017731 "ICD10:E77.0" +MONDO:0017731 "ICD10CM:E77.1" +MONDO:0017731 "ICD10CM:E77.9" +MONDO:0017731 "ICD10CM:E77.8" MONDO:0023267 "MESH:C537282" MONDO:0023267 "UMLS:C2931465" MONDO:0024341 "NCIT:C7061" @@ -7656,24 +7471,24 @@ NCBITaxon:400053 "GC_ID:1" MONDO:0008270 "GARD:0005289" MONDO:0008270 "SCTID:715710001" MONDO:0008270 "UMLS:C1868114" -MONDO:0008270 "ICD10:Q69.1" +MONDO:0008270 "ICD10CM:Q69.1" MONDO:0008270 "Orphanet:93336" MONDO:0008270 "Orphanet:2950" MONDO:0008270 "OMIM:174500" MONDO:0007073 "Orphanet:989" MONDO:0007073 "OMIM:103300" -MONDO:0007073 "ICD10:Q87.2" MONDO:0007073 "GARD:0000068" MONDO:0007073 "SCTID:35031005" MONDO:0007073 "ICD9:759.89" +MONDO:0007073 "ICD10CM:Q87.2" MONDO:0018359 "Orphanet:398117" -MONDO:0018359 "ICD10:M33.1" +MONDO:0018359 "ICD10CM:M33.1" MONDO:0008153 "OMIM:166350" MONDO:0008153 "MESH:C562735" MONDO:0008153 "GARD:0000109" MONDO:0008153 "UMLS:C0334041" -MONDO:0008153 "ICD10:M61.5" MONDO:0008153 "SCTID:719271000" +MONDO:0008153 "ICD10CM:M61.5" MONDO:0008153 "MedDRA:10048902" MONDO:0008153 "DOID:0111535" MONDO:0008153 "Orphanet:2762" @@ -7682,7 +7497,6 @@ MONDO:0001014 "SCTID:92812005" MONDO:0001014 "DOID:1036" MONDO:0001014 "NCIT:C3483" MONDO:0001014 "UMLS:C1279296" -MONDO:0002572 "ICD10:J69.0" MONDO:0002572 "DOID:3240" MONDO:0002572 "NCIT:C34932" MONDO:0002572 "UMLS:C1761609" @@ -7697,10 +7511,10 @@ MONDO:0011891 "MESH:C565811" MONDO:0011891 "DOID:0111298" MONDO:0011891 "OMIM:607681" MONDO:0022832 "GARD:0001484" -MONDO:0044778 "ICD10:C81.0" MONDO:0044778 "UMLS:C1334968" MONDO:0044778 "MEDGEN:233758" MONDO:0044778 "NCIT:C7258" +MONDO:0044778 "ICD10CM:C81.0" MONDO:0044778 "Orphanet:86893" MONDO:0044778 "ONCOTREE:NLPHL" HP:0200036 "UMLS:C0037287" @@ -7720,14 +7534,14 @@ MONDO:0002455 "NCIT:C7453" MONDO:0002455 "DOID:2892" MONDO:0002455 "SCTID:372100004" MONDO:0002455 "UMLS:C1299238" +MONDO:8000032 "Orphanet:377789" MONDO:0005174 "EFO:0002497" -MONDO:0017326 "ICD10:L30.3" MONDO:0017326 "Orphanet:289347" MONDO:0017326 "NCIT:C129260" MONDO:0017326 "UMLS:CN202966" +MONDO:0017326 "ICD10CM:L30.3" MONDO:0005831 "MESH:D014388" MONDO:0005831 "SCTID:10893003" -MONDO:0005831 "ICD10:A18.2" MONDO:0005831 "EFO:0007350" MONDO:0005831 "NCIT:C26896" MONDO:0005831 "DOID:4889" @@ -7737,11 +7551,11 @@ MONDO:0003130 "UMLS:C0206628" MONDO:0003130 "DOID:4772" MONDO:0003130 "MESH:D018201" NCBITaxon:11216 "GC_ID:1" +MONDO:0010977 "ICD10CM:G71.8" MONDO:0010977 "Orphanet:53347" MONDO:0010977 "SCTID:703530005" MONDO:0010977 "MESH:C536607" MONDO:0010977 "GARD:0009158" -MONDO:0010977 "ICD10:G71.8" MONDO:0010977 "ICD9:359.89" MONDO:0010977 "DOID:0050692" MONDO:0010977 "UMLS:C1832918" @@ -7749,13 +7563,13 @@ MONDO:0010977 "OMIM:601003" NCBITaxon:8006 "GC_ID:1" MONDO:0011923 "OMIM:607850" MONDO:0016588 "SCTID:66695004" -MONDO:0016588 "ICD10:T56.1" +MONDO:0016588 "ICD10CM:T56.1" MONDO:0016588 "MESH:D000170" MONDO:0016588 "UMLS:CN201782" MONDO:0016588 "Orphanet:247165" MONDO:0011500 "UMLS:C1858042" -MONDO:0011500 "ICD10:D22.5" MONDO:0011500 "MESH:C565735" +MONDO:0011500 "ICD10CM:D22.5" MONDO:0011500 "OMIM:604919" MONDO:0011500 "Orphanet:64755" MONDO:0011500 "UMLS:C0263579" @@ -7779,7 +7593,7 @@ MONDO:0006576 "DOID:4558" MONDO:0019964 "Orphanet:97289" MONDO:0019964 "ONCOTREE:TNET" MONDO:0019964 "UMLS:CN206887" -MONDO:0019964 "ICD10:D38.4" +MONDO:0019964 "ICD10CM:D38.4" MONDO:0009776 "DOID:0070188" MONDO:0009776 "MESH:C562902" MONDO:0009776 "OMIM:258150" @@ -7789,24 +7603,24 @@ MONDO:0018767 "HP:0003614" MONDO:0018767 "Orphanet:468726" MONDO:0018767 "DOID:0080361" MONDO:0018767 "GARD:0006447" +MONDO:0018767 "ICD10CM:E88.8" MONDO:0018767 "MESH:C536561" MONDO:0018767 "OMIM:602079" -MONDO:0018767 "ICD10:E88.8" -MONDO:0009952 "Orphanet:3270" MONDO:0009952 "MESH:C564856" -MONDO:0009952 "ICD10:Q87.8" +MONDO:0009952 "Orphanet:3270" MONDO:0009952 "MESH:C538217" MONDO:0009952 "SCTID:721883006" MONDO:0009952 "OMIM:266255" +MONDO:0009952 "ICD10CM:Q87.8" MONDO:0009952 "GARD:0001810" MONDO:0018079 "Orphanet:3398" +MONDO:0018079 "ICD10CM:C37" MONDO:0018079 "UMLS:C1266101" MONDO:0018079 "ONCOTREE:TET" -MONDO:0018079 "ICD10:C37" -MONDO:0018079 "ICD10:D15.0" MONDO:0018079 "NCIT:C6450" MONDO:0018079 "MESH:C536905" MONDO:0018079 "GARD:0005201" +MONDO:0018079 "ICD10CM:D15.0" MONDO:0011806 "MESH:C563787" MONDO:0011806 "Orphanet:488265" MONDO:0011806 "UMLS:C1836723" @@ -7838,7 +7652,7 @@ MONDO:0016954 "UMLS:C0795809" MONDO:0016954 "Orphanet:262851" MONDO:0014197 "UMLS:C3809583" MONDO:0014197 "Orphanet:397964" -MONDO:0014197 "ICD10:D81.8" +MONDO:0014197 "ICD10CM:D81.8" MONDO:0014197 "OMIM:615468" MONDO:0009143 "UMLS:CN030358" MONDO:0009143 "SCTID:703508009" @@ -7851,27 +7665,27 @@ MONDO:0003258 "UMLS:C0346076" MONDO:0003258 "SCTID:254790003" MONDO:0003258 "NCIT:C27506" MONDO:0002004 "DOID:1460" -MONDO:0002004 "ICD10:I75.81" +MONDO:0002004 "ICD10CM:I75.81" MONDO:0020446 "Orphanet:99117" -MONDO:0020446 "ICD10:Q21.1" +MONDO:0020446 "ICD10CM:Q21.1" MONDO:0002878 "GARD:0009636" MONDO:0002878 "NCIT:C6336" +MONDO:0002878 "ICD10CM:C54.2" MONDO:0002878 "MESH:C538232" MONDO:0002878 "UMLS:CN201046" MONDO:0002878 "DOID:4113" MONDO:0002878 "UMLS:C1336917" MONDO:0002878 "Orphanet:213600" MONDO:0002878 "ONCOTREE:UAS" -MONDO:0002878 "ICD10:C54.2" MONDO:0003824 "DOID:6244" MONDO:0003824 "UMLS:C0879606" MONDO:0003824 "NCIT:C8960" MONDO:0011670 "OMIM:606408" MONDO:0011670 "Orphanet:230839" -MONDO:0011670 "ICD10:Q79.6" MONDO:0011670 "GARD:0008507" MONDO:0011670 "UMLS:C1848029" MONDO:0011670 "MESH:C536193" +MONDO:0011670 "ICD10CM:Q79.6" MONDO:0011323 "MESH:C537429" MONDO:0011323 "OMIM:603457" MONDO:0011323 "Orphanet:1135" @@ -7889,7 +7703,7 @@ MONDO:0042983 "MESH:D020752" MONDO:0042983 "NCIT:C84348" MONDO:0015552 "UMLS:C4518087" MONDO:0015552 "SCTID:733638006" -MONDO:0015552 "ICD10:Q81.2" +MONDO:0015552 "ICD10CM:Q81.2" MONDO:0015552 "UMLS:CN199731" MONDO:0015552 "Orphanet:158673" MONDO:0036591 "NCIT:C2858" @@ -7901,13 +7715,12 @@ MONDO:0019294 "Orphanet:79380" MONDO:0019294 "UMLS:CN227617" MONDO:0016837 "SCTID:719578005" MONDO:0016837 "UMLS:C4304595" -MONDO:0016837 "ICD10:Q92.3" MONDO:0016837 "GARD:0013392" MONDO:0016837 "Orphanet:261243" MONDO:0016837 "UMLS:CN202173" MONDO:0004642 "DOID:8688" MONDO:0004642 "UMLS:C0153385" -MONDO:0004642 "ICD10:C09.1" +MONDO:0004642 "ICD10CM:C09.1" MONDO:0004642 "SCTID:187675005" MONDO:0004642 "ICD9:146.2" MONDO:0043339 "SCTID:5724005" @@ -7924,12 +7737,10 @@ MONDO:0019209 "SCTID:52947006" MONDO:0019209 "DOID:10844" MONDO:0019209 "Orphanet:79139" MONDO:0019209 "ICD9:062.0" -MONDO:0019209 "ICD10:A83.0" MONDO:0019209 "MedDRA:10014596" MONDO:0019209 "GARD:0006797" MONDO:0001476 "OMIM:120200" MONDO:0001476 "ICD9:743.49" -MONDO:0001476 "ICD10:Q13.0" MONDO:0001476 "Orphanet:98945" MONDO:0001476 "SCTID:93390002" MONDO:0001476 "OMIM:120300" @@ -7948,7 +7759,7 @@ MONDO:0003445 "NCIT:C5857" MONDO:0003445 "UMLS:C1331534" MONDO:0002422 "NCIT:C7644" MONDO:0002422 "DOID:2775" -MONDO:0002422 "ICD10:C40.2" +MONDO:0002422 "ICD10CM:C40.2" MONDO:0002422 "ICDO:9261/3" MONDO:0002422 "MESH:C562741" MONDO:0002422 "DOID:2776" @@ -7969,16 +7780,15 @@ MONDO:0006821 "MESH:D007681" MONDO:0006821 "ICD9:583.7" MONDO:0020645 "OMIMPS:607634" MONDO:0020645 "UMLS:C4272579" +MONDO:0019138 "ICD10CM:D69.8" MONDO:0019138 "OMIM:614201" MONDO:0019138 "Orphanet:73271" -MONDO:0019138 "ICD10:D69.8" MONDO:0019138 "OMIM:614200" -MONDO:0017441 "ICD10:Q71.1" MONDO:0017441 "Orphanet:294975" MONDO:0017441 "GARD:0012123" MONDO:0017441 "NCIT:C34928" +MONDO:0017441 "ICD10CM:Q71.1" MONDO:0017441 "SCTID:22841008" -MONDO:0008763 "ICD10:Q87.8" MONDO:0008763 "MESH:D056769" MONDO:0008763 "SCTID:63702009" MONDO:0008763 "ICD9:759.89" @@ -7987,6 +7797,7 @@ MONDO:0008763 "GARD:0005787" MONDO:0008763 "MedDRA:10068783" MONDO:0008763 "DOID:0050473" MONDO:0008763 "NCIT:C84549" +MONDO:0008763 "ICD10CM:Q87.8" MONDO:0008763 "Orphanet:64" MONDO:0008763 "UMLS:C0268425" MONDO:0006179 "NCIT:C39758" @@ -7994,19 +7805,18 @@ MONDO:0006179 "EFO:1000215" MONDO:0006179 "UMLS:C0457533" MONDO:0013001 "OMIM:612759" MONDO:0013001 "MESH:C562460" -MONDO:0001663 "ICD10:H35.34" MONDO:0001663 "SCTID:1079004" MONDO:0001663 "DOID:13214" MONDO:0001663 "ICD9:362.54" MONDO:0001663 "UMLS:C1261331" +MONDO:0007566 "ICD10CM:C44.3" MONDO:0007566 "NCIT:C4461" MONDO:0007566 "Orphanet:65748" MONDO:0007566 "SCTID:254659009" -MONDO:0007566 "ICD10:C44.3" +MONDO:0007566 "ICD10CM:C44.7" MONDO:0007566 "GARD:0003090" MONDO:0007566 "DOID:5585" -MONDO:0007566 "ICD10:C44.7" -MONDO:0007566 "ICD10:C44.6" +MONDO:0007566 "ICD10CM:C44.6" MONDO:0007566 "MESH:C536150" MONDO:0007566 "OMIM:132800" MONDO:0007566 "UMLS:C0345982" @@ -8015,17 +7825,17 @@ HP:0001698 "UMLS:C0031039" HP:0001698 "MSH:D010490" HP:0001698 "SNOMEDCT_US:373945007" HP:0001698 "Fyler:1940" +MONDO:8000034 "Orphanet:557493" NCBITaxon:6194 "GC_ID:1" MONDO:0032893 "OMIM:618737" -MONDO:0015483 "ICD10:Q75.4" MONDO:0015483 "MESH:D008342" MONDO:0015483 "Orphanet:155899" MONDO:0015483 "MedDRA:10051456" MONDO:0030296 "OMIM:619365" +MONDO:0019556 "ICD10CM:E88.1" MONDO:0019556 "UMLS:CN227652" MONDO:0019556 "Orphanet:90160" MONDO:0019556 "SCTID:238898001" -MONDO:0019556 "ICD10:E88.1" MONDO:0020038 "Orphanet:98074" MONDO:0018882 "MESH:D014657" MONDO:0018882 "SCTID:31996006" @@ -8036,9 +7846,9 @@ MONDO:0018882 "UMLS:C0042384" MONDO:0018882 "Orphanet:52759" MONDO:0018882 "GARD:0009565" MONDO:0018882 "Wikipedia:Vasculitis" +MONDO:0018882 "NCIT:C26912" MONDO:0018882 "DOID:865" MONDO:0018882 "MedDRA:10047115" -MONDO:0018882 "NCIT:C26912" MONDO:0023152 "MESH:C537927" MONDO:0023152 "UMLS:C2931666" MONDO:0023152 "GARD:0009718" @@ -8047,12 +7857,12 @@ MONDO:0004397 "NCIT:C6636" MONDO:0004397 "UMLS:C1332513" MONDO:0014442 "UMLS:C2673874" MONDO:0014442 "Orphanet:110" -MONDO:0014442 "ICD10:Q87.89" MONDO:0014442 "OMIM:615991" MONDO:0014442 "DOID:0110136" MONDO:0014442 "MESH:C567141" -MONDO:0009626 "ICD10:Q87.8" +MONDO:0009626 "OMIM:251290" MONDO:0009626 "GARD:0012426" +MONDO:0009626 "ICD10CM:Q87.8" MONDO:0009626 "Orphanet:1229" MONDO:0009626 "OMIMPS:251290" MONDO:0009626 "GARD:0000815" @@ -8067,7 +7877,7 @@ MONDO:0015280 "OMIM:615279" MONDO:0015280 "Orphanet:1340" MONDO:0015280 "MESH:C535579" MONDO:0015280 "GARD:0009146" -MONDO:0015280 "ICD10:Q87.8" +MONDO:0015280 "ICD10CM:Q87.8" MONDO:0015280 "DOID:0060233" MONDO:0015280 "OMIM:615280" MONDO:0015280 "SCTID:403770008" @@ -8077,11 +7887,10 @@ MONDO:0020851 "OMIM:618110" MONDO:0013875 "UMLS:C3553597" MONDO:0013875 "DOID:0110001" MONDO:0013875 "Orphanet:352328" +MONDO:0013875 "ICD10CM:E71.1" MONDO:0013875 "OMIM:614739" -MONDO:0013875 "ICD10:E71.1" MONDO:0013875 "GARD:0012963" MONDO:0013875 "SCTID:711409002" -MONDO:0011102 "ICD10:H90.3" MONDO:0011102 "UMLS:C1832187" MONDO:0011102 "MESH:C563295" MONDO:0011102 "OMIM:601543" @@ -8093,7 +7902,6 @@ MONDO:0008867 "OMIM:210500" MONDO:0008867 "NCIT:C34421" MONDO:0008867 "MESH:D001656" MONDO:0008867 "SCTID:77480004" -MONDO:0008867 "ICD10:Q44.2" MONDO:0008867 "ICD9:751.61" MONDO:0008867 "GARD:0012010" MONDO:0008867 "Orphanet:30391" @@ -8114,7 +7922,6 @@ MONDO:0009813 "Orphanet:324964" MONDO:0009813 "OMIM:259680" MONDO:0009813 "DOID:0060645" MONDO:0009813 "NCIT:C119042" -MONDO:0009813 "ICD10:M86.3" MONDO:0009813 "GARD:0006108" MONDO:0009813 "HP:0002754" MONDO:0009378 "GARD:0010267" @@ -8122,26 +7929,25 @@ MONDO:0009378 "OMIM:237400" MONDO:0009378 "ICD9:270.8" MONDO:0009378 "MESH:C562684" MONDO:0009378 "UMLS:C0268630" +MONDO:0009378 "ICD10CM:E79.8" MONDO:0009378 "SCTID:2359002" -MONDO:0009378 "ICD10:E79.8" MONDO:0009378 "Orphanet:309147" -MONDO:0012727 "MESH:D009080" -MONDO:0012727 "ICD9:446.1" -MONDO:0012727 "UMLS:C0026691" -MONDO:0012727 "ICD10:M30.3" -MONDO:0012727 "OMIM:611775" -MONDO:0012727 "GARD:0006816" +MONDO:0012727 "SCTID:75053002" MONDO:0012727 "NCIT:C34825" MONDO:0012727 "MedDRA:10023320" MONDO:0012727 "EFO:0004246" -MONDO:0012727 "SCTID:75053002" +MONDO:0012727 "OMIM:611775" +MONDO:0012727 "GARD:0006816" MONDO:0012727 "Orphanet:2331" MONDO:0012727 "DOID:13378" +MONDO:0012727 "ICD9:446.1" +MONDO:0012727 "UMLS:C0026691" +MONDO:0012727 "MESH:D009080" CL:0002553 "CALOHA:TS-0575" CL:0002553 "BTO:0000764" MONDO:0017827 "SCTID:404037002" MONDO:0017827 "ICD9:171.9" -MONDO:0017827 "ICD10:C47.9" +MONDO:0017827 "ICD10CM:C47.9" MONDO:0017827 "UMLS:C0751690" MONDO:0017827 "Orphanet:3148" MONDO:0017827 "MedDRA:10029236" @@ -8160,19 +7966,19 @@ MONDO:0000192 "UMLS:CN228160" HP:0200067 "UMLS:C3279439" MONDO:0032808 "OMIM:618548" MONDO:0060760 "OMIM:618089" -MONDO:0015787 "ICD10:D66" +MONDO:0015787 "ICD10CM:D66" MONDO:0015787 "UMLS:CN200369" MONDO:0015787 "Orphanet:177926" MONDO:0020448 "Orphanet:99119" -MONDO:0020448 "ICD10:Q26.8" +MONDO:0020448 "ICD10CM:Q26.8" MONDO:0003826 "UMLS:C1334680" MONDO:0003826 "NCIT:C6812" MONDO:0003826 "DOID:6249" MONDO:0008366 "OMIM:179650" MONDO:0008366 "UMLS:C1867340" MONDO:0018431 "Orphanet:401993" +MONDO:0018431 "ICD10CM:G90.8" MONDO:0018431 "UMLS:CN226150" -MONDO:0018431 "ICD10:G90.8" CL:0000771 "CALOHA:TS-0279" CL:0000771 "FMA:62861" CL:0000771 "BTO:0000399" @@ -8184,9 +7990,8 @@ MONDO:0009449 "OMIM:242670" MONDO:0009449 "UMLS:C0340035" MONDO:0009449 "MESH:C536286" MONDO:0002657 "SCTID:79604008" +MONDO:0002657 "ICD10CM:N60-N65" MONDO:0002657 "ICD9:611.8" -MONDO:0002657 "ICD10:N64.9" -MONDO:0002657 "ICD10:N60-N65" MONDO:0002657 "ICD9:611.9" MONDO:0002657 "ICD9:610-612.99" MONDO:0002657 "MESH:D001941" @@ -8200,8 +8005,8 @@ MONDO:0001266 "HP:0001055" MONDO:0001266 "MESH:D004886" MONDO:0001266 "SCTID:44653001" MONDO:0001266 "EFO:1001462" -MONDO:0001266 "ICD10:A46" MONDO:0001266 "DOID:11330" +MONDO:0001266 "ICD10CM:A46" MONDO:0001266 "GARD:0006370" MONDO:0001266 "ICD9:035" MONDO:0001266 "UMLS:C0014733" @@ -8211,23 +8016,23 @@ MONDO:0022655 "GARD:0001109" MONDO:0014058 "UMLS:C3554576" MONDO:0014058 "Orphanet:352712" MONDO:0014058 "OMIM:615139" -MONDO:0014058 "ICD10:Q87.1" +MONDO:0014058 "ICD10CM:Q87.1" MONDO:0010546 "OMIM:302400" MONDO:0005857 "MESH:D018185" MONDO:0005857 "UMLS:C0206614" MONDO:0005857 "EFO:0007377" MONDO:0100058 "OMIM:618850" HP:0000240 "UMLS:C4025874" -MONDO:0016839 "Orphanet:261257" +MONDO:0016839 "ICD10CM:Q93.5" MONDO:0016839 "UMLS:CN202175" MONDO:0016839 "SCTID:764696007" -MONDO:0016839 "ICD10:Q93.5" +MONDO:0016839 "Orphanet:261257" HP:0100303 "UMLS:C4022157" MONDO:0007681 "Orphanet:276399" -MONDO:0007681 "ICD10:E04.2" MONDO:0007681 "SCTID:267369002" MONDO:0007681 "MESH:C562732" MONDO:0007681 "UMLS:CN202615" +MONDO:0007681 "ICD10CM:E04.2" MONDO:0007681 "ICD9:240.0" MONDO:0007681 "OMIM:138800" MONDO:0004150 "DOID:7223" @@ -8244,7 +8049,7 @@ MONDO:0013299 "OMIM:613544" MONDO:0005387 "SCTID:65846009" MONDO:0005387 "Orphanet:619" MONDO:0005387 "NCIT:C113352" -MONDO:0005387 "ICD10:E28.3" +MONDO:0005387 "ICD10CM:E28.3" MONDO:0005387 "MESH:D016649" MONDO:0005387 "EFO:0004266" MONDO:0005387 "SCTID:237788002" @@ -8262,9 +8067,9 @@ MONDO:0012933 "Orphanet:227535" MONDO:0012933 "OMIM:612555" MONDO:0010617 "SCTID:722459008" MONDO:0010617 "OMIM:307500" -MONDO:0010617 "ICD10:Q87.8" MONDO:0010617 "Orphanet:2234" MONDO:0010617 "MESH:C564406" +MONDO:0010617 "ICD10CM:Q87.8" MONDO:0019099 "Orphanet:71209" MONDO:0013654 "Orphanet:231160" MONDO:0013654 "OMIM:614252" @@ -8275,12 +8080,11 @@ MONDO:0013307 "DOID:0111186" MONDO:0013307 "OMIM:613561" MONDO:0023002 "GARD:0001905" MONDO:0000946 "SCTID:71787009" -MONDO:0000946 "ICD10:F52.5" MONDO:0000946 "DOID:10131" MONDO:0000946 "ICD9:306.51" MONDO:0000946 "NCIT:C35113" MONDO:0017536 "Orphanet:295173" -MONDO:0017536 "ICD10:Q69.0" +MONDO:0017536 "ICD10CM:Q69.0" MONDO:0032672 "OMIM:618316" MONDO:0032672 "Orphanet:562569" MONDO:0006626 "UMLS:C0011882" @@ -8305,11 +8109,10 @@ MONDO:0014748 "Orphanet:457395" MONDO:0014748 "OMIM:616723" MONDO:0004258 "NCIT:C34958" MONDO:0004258 "SCTID:60103007" -MONDO:0004258 "ICD10:F52.31" MONDO:0004258 "DOID:7518" MONDO:0004258 "ICD9:302.73" +MONDO:0004258 "ICD10CM:F52.31" MONDO:0030701 "DOID:0040095" -MONDO:0005709 "ICD10:J00" MONDO:0005709 "UMLS:C0009443" MONDO:0005709 "SCTID:82272006" MONDO:0005709 "MESH:D003139" @@ -8318,12 +8121,11 @@ MONDO:0005709 "EFO:0007214" MONDO:0005709 "DOID:10459" MONDO:0005709 "NCIT:C34500" MONDO:0015219 "Orphanet:108989" -MONDO:0016777 "ICD10:A05.1" MONDO:0016777 "Orphanet:254504" MONDO:0016777 "UMLS:C1443900" MONDO:0016777 "SCTID:409562009" +MONDO:0016777 "ICD10CM:A05.1" MONDO:0017419 "NCIT:C34370" -MONDO:0017419 "ICD10:Q73.0" MONDO:0017419 "HP:0009827" MONDO:0017419 "SCTID:62588002" MONDO:0017419 "MedDRA:10001926" @@ -8335,7 +8137,7 @@ MONDO:0002581 "ICD9:171.9" MONDO:0002581 "ICDO:8912/3" MONDO:0002581 "UMLS:C1266134" MONDO:0002581 "ONCOTREE:SCRMS" -MONDO:0018977 "ICD10:G61.8" +MONDO:0018977 "ICD10CM:G61.8" MONDO:0018977 "UMLS:C1736154" MONDO:0018977 "Orphanet:639" MONDO:0004844 "GARD:0007260" @@ -8343,17 +8145,14 @@ MONDO:0004844 "NCIT:C3187" MONDO:0004844 "ICD9:528.6" MONDO:0004844 "UMLS:C0023532" MONDO:0004844 "MESH:D007972" -MONDO:0004844 "ICD10:K13.2" MONDO:0004844 "SCTID:414603003" MONDO:0004844 "DOID:9655" -MONDO:0004844 "ICD10:K13.21" MONDO:0009228 "OMIM:228560" MONDO:0009228 "GARD:0010528" MONDO:0009228 "Orphanet:2025" MONDO:0009228 "MESH:C565567" +MONDO:0009228 "ICD10CM:Q87.0" MONDO:0009228 "UMLS:C1856761" -MONDO:0009228 "ICD10:Q87.0" -MONDO:0003647 "ICD10:H73.81" MONDO:0003647 "SCTID:38645004" MONDO:0003647 "DOID:5781" MONDO:0003647 "UMLS:C0155470" @@ -8365,33 +8164,33 @@ MONDO:0011493 "NCIT:C74985" MONDO:0011493 "MESH:C537493" MONDO:0011493 "Orphanet:828" MONDO:0011493 "OMIM:604841" -MONDO:0011493 "ICD10:Q87.5" +MONDO:0011493 "ICD10CM:Q87.5" MONDO:0010325 "UMLS:C1845530" +MONDO:0010325 "ICD10CM:Q87.8" MONDO:0010325 "MESH:C537495" -MONDO:0010325 "ICD10:Q87.8" MONDO:0010325 "Orphanet:85288" MONDO:0010325 "OMIM:300434" MONDO:0010325 "SCTID:718910006" MONDO:0010325 "GARD:0001133" MONDO:0011883 "GARD:0010163" +MONDO:0011883 "ICD10CM:Q82.8" MONDO:0011883 "MESH:C536220" -MONDO:0011883 "ICD10:Q82.8" MONDO:0011883 "Orphanet:307766" MONDO:0011883 "OMIM:607656" MONDO:0022518 "GARD:0008582" MONDO:0017829 "Orphanet:314889" MONDO:0017829 "UMLS:CN203801" -MONDO:0017829 "ICD10:N25.8" +MONDO:0017829 "ICD10CM:N25.8" MONDO:0018023 "OMIM:617971" MONDO:0018023 "UMLS:CN204238" MONDO:0018023 "Orphanet:330041" MONDO:0018023 "UMLS:C3665425" MONDO:0018023 "SCTID:74912001" -MONDO:0018023 "ICD10:D74.0" +MONDO:0018023 "ICD10CM:D74.0" MONDO:0018023 "GARD:0013007" MONDO:0018023 "MESH:C581942" MONDO:0000478 "DOID:0050837" -MONDO:0017335 "ICD10:Q99.8" +MONDO:0017335 "ICD10CM:Q99.8" MONDO:0017335 "Orphanet:289522" MONDO:0008216 "OMIM:169545" MONDO:0008216 "MESH:C566812" @@ -8400,13 +8199,11 @@ MONDO:0010481 "HP:0100665" MONDO:0010481 "SCTID:400075008" MONDO:0010481 "MESH:D000799" MONDO:0010481 "EFO:0005532" -MONDO:0010481 "ICD10:T78.3" MONDO:0010481 "NCIT:C112175" MONDO:0010481 "SCTID:41291007" MONDO:0010481 "CSP:2716-7007" MONDO:0010481 "ICD9:995.1" MONDO:0010481 "DOID:1558" -MONDO:0007019 "ICD10:N76.0" MONDO:0007019 "MESH:D014848" MONDO:0007019 "UMLS:C0042998" MONDO:0007019 "MedDRA:10047794" @@ -8418,23 +8215,23 @@ MONDO:0010548 "OMIM:302600" MONDO:0010548 "UMLS:C1844885" MONDO:0010548 "GARD:0009978" MONDO:0010548 "MESH:C537314" -MONDO:0017264 "ICD10:Q80.1" +MONDO:0017264 "ICD10CM:Q80.1" MONDO:0017264 "SCTID:717041008" MONDO:0017264 "UMLS:CN202782" MONDO:0017264 "UMLS:C4274085" MONDO:0017264 "OMIM:308100" MONDO:0017264 "Orphanet:281090" +MONDO:0015648 "ICD10CM:G40.8" MONDO:0015648 "Orphanet:166427" -MONDO:0015648 "ICD10:G40.8" MONDO:0015648 "UMLS:CN200058" MONDO:0015648 "SCTID:763632004" NCBITaxon:29169 "GC_ID:1" +MONDO:0009618 "ICD10CM:Q87.8" MONDO:0009618 "UMLS:C1855080" MONDO:0009618 "Orphanet:2515" MONDO:0009618 "OMIM:251220" MONDO:0009618 "MESH:C536711" MONDO:0009618 "SCTID:719380003" -MONDO:0009618 "ICD10:Q87.8" MONDO:0009618 "GARD:0003609" MONDO:0014644 "Orphanet:468661" MONDO:0014644 "OMIM:616451" @@ -8456,22 +8253,22 @@ MONDO:0021058 "NCIT:C54705" HP:0003011 "UMLS:C4021745" MONDO:0033662 "OMIM:619076" MONDO:0016252 "Orphanet:213564" -MONDO:0011989 "ICD10:B55.9" MONDO:0011989 "NCIT:C34767" MONDO:0011989 "Orphanet:507" MONDO:0011989 "OMIM:608207" -MONDO:0011989 "EFO:0005044" MONDO:0011989 "ICD9:085.9" +MONDO:0011989 "ICD10CM:B55" +MONDO:0011989 "EFO:0005044" MONDO:0011989 "UMLS:C0023281" -MONDO:0011989 "ICD10:B55" MONDO:0011989 "DOID:9065" +MONDO:0011989 "ICD10CM:B55.2" +MONDO:0011989 "ICD10CM:B55.9" +MONDO:0011989 "ICD10CM:B55.1" MONDO:0011989 "ICD9:085" -MONDO:0011989 "ICD10:B55.2" -MONDO:0011989 "SCTID:80612004" +MONDO:0011989 "ICD10CM:B55.0" MONDO:0011989 "MedDRA:10024198" MONDO:0011989 "GARD:0006881" -MONDO:0011989 "ICD10:B55.1" -MONDO:0011989 "ICD10:B55.0" +MONDO:0011989 "SCTID:80612004" MONDO:0011989 "MESH:D007896" MONDO:0019769 "UMLS:CN206704" MONDO:0019769 "Orphanet:93950" @@ -8490,18 +8287,18 @@ MONDO:0002176 "MESH:D009372" MONDO:0002176 "SCTID:126598008" MONDO:0002176 "DOID:201" MONDO:0002176 "UMLS:C0027656" -MONDO:0011128 "ICD10:Q68.8" MONDO:0011128 "GARD:0009909" +MONDO:0011128 "ICD10CM:Q68.8" MONDO:0011128 "OMIM:616266" MONDO:0011128 "UMLS:C1834523" MONDO:0011128 "DOID:0111599" MONDO:0011128 "Orphanet:1147" +MONDO:0003122 "ICD10CM:G23.2" MONDO:0003122 "ICD9:333.0" MONDO:0003122 "OMIM:500003" MONDO:0003122 "NCIT:C125695" MONDO:0003122 "SCTID:29618004" MONDO:0003122 "OMIM:609161" -MONDO:0003122 "ICD10:G23.2" MONDO:0003122 "OMIMPS:271930" MONDO:0003122 "UMLS:C0270733" MONDO:0003122 "MESH:D020955" @@ -8515,12 +8312,11 @@ MONDO:0001810 "NCIT:C26954" MONDO:0001810 "DOID:13814" MONDO:0001810 "ICD9:352.5" MONDO:0001810 "SCTID:24777009" -MONDO:0001810 "ICD10:G52.3" MONDO:0001810 "UMLS:C0152181" MONDO:0001810 "MESH:D020437" MONDO:0005552 "EFO:0005753" MONDO:0005552 "NCIT:C35664" -MONDO:0019606 "ICD10:D89.1" +MONDO:0019606 "ICD10CM:D89.1" MONDO:0019606 "Orphanet:91139" MONDO:0019606 "UMLS:CN206459" MONDO:0019606 "UMLS:C4510006" @@ -8531,13 +8327,12 @@ MONDO:0007752 "MESH:C562723" MONDO:0007752 "UMLS:C3203346" MONDO:0007752 "SCTID:79674009" MONDO:0030522 "OMIM:619696" -MONDO:0013309 "DOID:0060414" -MONDO:0013309 "OMIM:613564" -MONDO:0013309 "UMLS:C3150804" MONDO:0004447 "UMLS:C1335422" MONDO:0004447 "DOID:8058" MONDO:0004447 "NCIT:C5311" -MONDO:0002013 "ICD10:D18.1" +MONDO:0013309 "DOID:0060414" +MONDO:0013309 "OMIM:613564" +MONDO:0013309 "UMLS:C3150804" MONDO:0002013 "UMLS:CN201700" MONDO:0002013 "NCIT:C8965" MONDO:0002013 "GARD:0009789" @@ -8551,9 +8346,9 @@ MONDO:0002013 "SCTID:254836000" MONDO:0018409 "UMLS:CN227352" MONDO:0018409 "Orphanet:400003" MONDO:0033545 "OMIM:618972" +MONDO:0017693 "ICD10CM:E74.0" MONDO:0017693 "UMLS:CN203589" MONDO:0017693 "Orphanet:308520" -MONDO:0017693 "ICD10:E74.0" MONDO:0008906 "OMIM:212060" MONDO:0012569 "UMLS:C1835814" MONDO:0012569 "MESH:C563655" @@ -8568,9 +8363,9 @@ HP:0002224 "MEDDRA:10048017" HP:0002224 "UMLS:C0343073" HP:0002224 "UMLS:C4072836" MONDO:0013515 "Orphanet:216820" -MONDO:0013515 "ICD10:Q78.0" MONDO:0013515 "UMLS:C3279564" MONDO:0013515 "DOID:0110350" +MONDO:0013515 "ICD10CM:Q78.0" MONDO:0013515 "Orphanet:216812" MONDO:0013515 "OMIM:613982" MONDO:0013515 "MESH:C536047" @@ -8579,19 +8374,17 @@ MONDO:0006993 "MedDRA:10074631" MONDO:0006993 "UMLS:C1135191" MONDO:0006993 "DOID:9651" MONDO:0006993 "ICD9:428.2" -MONDO:0006993 "ICD10:I50.20" -MONDO:0006993 "ICD10:I50.2" MONDO:0006993 "EFO:1001207" -MONDO:0006993 "SCTID:417996009" MONDO:0006993 "MESH:D054143" +MONDO:0006993 "SCTID:417996009" MONDO:0006993 "ICD9:428.20" -MONDO:0003762 "DOID:6086" -MONDO:0003762 "NCIT:C8506" -MONDO:0003762 "UMLS:C1334596" MONDO:0021487 "NCIT:C3625" MONDO:0021487 "SCTID:92059004" MONDO:0021487 "UMLS:C0154028" MONDO:0021487 "ICD9:224.6" +MONDO:0003762 "DOID:6086" +MONDO:0003762 "NCIT:C8506" +MONDO:0003762 "UMLS:C1334596" MONDO:0005888 "EFO:0007410" MONDO:0005888 "MESH:D009956" MONDO:0005888 "SCTID:75116005" @@ -8601,7 +8394,6 @@ MONDO:0005888 "NCIT:C34873" MONDO:0005888 "GARD:0007492" MONDO:0005888 "DOID:11262" MONDO:0005888 "UMLS:C0029291" -MONDO:0005888 "ICD10:A70" MONDO:0000231 "UMLS:C3532354" MONDO:0000231 "DOID:0050046" MONDO:0000231 "SCTID:472822008" @@ -8612,7 +8404,6 @@ MONDO:0006134 "ONCOTREE:CEAS" MONDO:0006134 "SCTID:254888007" MONDO:0006134 "EFO:1000162" MONDO:0001468 "ICD9:727.9" -MONDO:0001468 "ICD10:M67.5" MONDO:0001468 "ICD9:727.83" MONDO:0001468 "DOID:12225" MONDO:0001468 "UMLS:C0410485" @@ -8627,16 +8418,16 @@ MONDO:0043275 "GARD:0007781" MONDO:0043275 "SCTID:41679006" MONDO:0043275 "UMLS:C0270173" MONDO:0043275 "NCIT:C98609" -MONDO:0012756 "ICD9:758.39" MONDO:0012756 "NCIT:C120408" -MONDO:0012756 "ICD10:Q93.5" +MONDO:0012756 "SCTID:699307007" +MONDO:0012756 "ICD9:758.39" +MONDO:0012756 "OMIM:611913" +MONDO:0012756 "UMLS:CN202166" MONDO:0012756 "GARD:0010740" +MONDO:0012756 "ICD10CM:Q93.5" +MONDO:0012756 "MESH:C579850" MONDO:0012756 "SCTID:718227006" MONDO:0012756 "Orphanet:261197" -MONDO:0012756 "MESH:C579850" -MONDO:0012756 "OMIM:611913" -MONDO:0012756 "SCTID:699307007" -MONDO:0012756 "UMLS:CN202166" HP:0030186 "SNOMEDCT_US:30721006" HP:0030186 "MSH:D014202" HP:0030186 "UMLS:C0270736" @@ -8654,16 +8445,16 @@ MONDO:0012937 "OMIM:612561" MONDO:0012937 "Orphanet:124" MONDO:0024270 "MESH:D007411" MONDO:0024270 "UMLS:C0021832" -MONDO:0010798 "ICD10:Q87.8" MONDO:0010798 "UMLS:C3151959" +MONDO:0010798 "ICD10CM:Q87.8" MONDO:0010798 "GARD:0004532" MONDO:0010798 "MESH:C564014" MONDO:0010798 "OMIM:560000" MONDO:0010798 "Orphanet:3390" MONDO:0013360 "SCTID:389165004" MONDO:0013360 "Orphanet:93302" +MONDO:0013360 "ICD10CM:Q76.3" MONDO:0013360 "OMIM:613678" -MONDO:0013360 "ICD10:Q76.3" MONDO:0014002 "UMLS:C3554306" MONDO:0014002 "DOID:0060686" MONDO:0014002 "OMIM:615005" @@ -8678,8 +8469,8 @@ MONDO:0024248 "MESH:D010915" MONDO:0024248 "SCTID:34630004" MONDO:0024248 "ICD9:696.5" MONDO:0015085 "Orphanet:100976" -MONDO:0015085 "ICD10:Q80.2" MONDO:0015085 "UMLS:C4511230" +MONDO:0015085 "ICD10CM:Q80.2" MONDO:0015085 "OMIM:242300" MONDO:0015085 "SCTID:725588002" MONDO:0044913 "SCTID:94292003" @@ -8691,6 +8482,7 @@ MONDO:0001991 "NCIT:C5371" MONDO:0005090 "ICD9:295.9" MONDO:0005090 "ICD9:295" MONDO:0005090 "Orphanet:3140" +MONDO:0005090 "ICD10CM:F20-F29" MONDO:0005090 "NCIT:C3362" MONDO:0005090 "DOID:5419" MONDO:0005090 "NIFSTD:birnlex_2104" @@ -8703,7 +8495,7 @@ MONDO:0005090 "OMIM:181500" MONDO:0005090 "ICD9:295.90" MONDO:0005090 "ICD9:295.80" MONDO:0017114 "Orphanet:269224" -MONDO:0017114 "ICD10:Q04.3" +MONDO:0017114 "ICD10CM:Q04.3" MONDO:0005005 "OMIM:144700" MONDO:0005005 "SCTID:254915003" MONDO:0005005 "ONCOTREE:CCRCC" @@ -8716,10 +8508,10 @@ MONDO:0005005 "MESH:D002292" MONDO:0005005 "Orphanet:319276" MONDO:0002800 "SCTID:40283005" MONDO:0002800 "UMLS:C0040046" +MONDO:0002800 "ICD10CM:I80.0" MONDO:0002800 "MESH:D013924" MONDO:0002800 "DOID:3875" MONDO:0002800 "ICD9:451.0" -MONDO:0002800 "ICD10:I80.0" MONDO:0002800 "NCIT:C3410" MONDO:0002800 "ICD9:451.2" MONDO:0024563 "Orphanet:1930" @@ -8733,14 +8525,13 @@ MONDO:0014247 "NCIT:C125390" MONDO:0014247 "Orphanet:391392" MONDO:0014247 "UMLS:C3809899" MONDO:0014247 "Orphanet:391384" -MONDO:0014247 "ICD10:M79.6" MONDO:0014247 "OMIM:615552" +MONDO:0014247 "ICD10CM:M79.6" MONDO:0007941 "OMIM:154300" MONDO:0013477 "DOID:0110326" MONDO:0013477 "UMLS:C3151267" MONDO:0013477 "OMIM:613876" MONDO:0008310 "OMIM:176670" -MONDO:0008310 "ICD10:E34.8" MONDO:0008310 "UMLS:C0033300" MONDO:0008310 "UMLS:CN236401" MONDO:0008310 "Orphanet:740" @@ -8748,19 +8539,20 @@ MONDO:0008310 "MedDRA:10036794" MONDO:0008310 "ICD9:259.8" MONDO:0008310 "SCTID:238870004" MONDO:0008310 "GARD:0007467" +MONDO:0008310 "ICD10CM:E34.8" MONDO:0008310 "NCIT:C34951" MONDO:0008310 "MESH:D011371" MONDO:0008310 "DOID:3911" MONDO:0016102 "UMLS:C0456517" MONDO:0016102 "Orphanet:206594" -MONDO:0016102 "ICD10:G61.8" MONDO:0016102 "SCTID:277189006" +MONDO:0016102 "ICD10CM:G61.8" MONDO:0030337 "OMIM:619451" PO:0025530 "PO_GIT:517" MONDO:0011063 "GARD:0002682" +MONDO:0011063 "ICD10CM:Q82.8" MONDO:0011063 "MESH:C536180" MONDO:0011063 "OMIM:601375" -MONDO:0011063 "ICD10:Q82.8" MONDO:0011063 "UMLS:C1832411" MONDO:0011063 "Orphanet:1808" MONDO:0019043 "Orphanet:68346" @@ -8779,9 +8571,9 @@ MONDO:0009094 "UMLS:C0432288" MONDO:0009094 "SCTID:254150007" MONDO:0015343 "Orphanet:139420" MONDO:0015343 "UMLS:CN199396" -MONDO:0015343 "ICD10:G37.3" +MONDO:0015343 "ICD10CM:G37.3" MONDO:0012465 "OMIM:610293" -MONDO:0012465 "ICD10:E88.8" +MONDO:0012465 "ICD10CM:E88.8" MONDO:0012465 "SCTID:724344004" MONDO:0012465 "UMLS:C4510605" MONDO:0012465 "Orphanet:83639" @@ -8792,13 +8584,13 @@ MONDO:0010191 "OMIM:277480" MONDO:0010191 "Orphanet:166096" MONDO:0010191 "UMLS:C1264041" MONDO:0010191 "Orphanet:903" -MONDO:0010191 "ICD10:D68.0" +MONDO:0010191 "ICD10CM:D68.0" MONDO:0010191 "MESH:D056729" MONDO:0010191 "NCIT:C85213" MONDO:0010191 "SCTID:128108002" MONDO:0030524 "OMIM:619698" MONDO:0018054 "Orphanet:334" -MONDO:0018054 "ICD10:I48.9" +MONDO:0018054 "ICD10CM:I48.9" MONDO:0018054 "OMIM:614022" MONDO:0018054 "OMIM:614050" MONDO:0018054 "OMIM:613055" @@ -8827,8 +8619,8 @@ MONDO:0025478 "MESH:D014685" MONDO:0008908 "MESH:C535752" MONDO:0008908 "OMIM:212066" MONDO:0008908 "UMLS:C2931008" +MONDO:0008908 "ICD10CM:E77.8" MONDO:0008908 "DOID:0070253" -MONDO:0008908 "ICD10:E77.8" MONDO:0008908 "GARD:0009828" MONDO:0008908 "SCTID:724142005" MONDO:0008908 "Orphanet:79329" @@ -8859,20 +8651,18 @@ MONDO:0004612 "ICDO:9750/3" MONDO:0004612 "DOID:8580" MONDO:0004612 "DOID:2570" MONDO:0004612 "NCIT:C7202" -MONDO:0004612 "ICD10:C96.1" MONDO:0004612 "UMLS:C0019623" MONDO:0004612 "SCTID:118612006" MONDO:0004612 "MESH:D015620" MONDO:0004612 "ICD9:202.3" MONDO:0004612 "EFO:1001499" -MONDO:0004612 "ICD10:C96.A" MONDO:0020384 "Orphanet:99022" -MONDO:0020384 "ICD10:E75.2" +MONDO:0020384 "ICD10CM:E75.2" MONDO:0020384 "SCTID:73399005" MONDO:0020384 "OMIM:607616" MONDO:0018921 "OMIM:607361" MONDO:0018921 "OMIM:613885" -MONDO:0018921 "ICD10:Q61.9" +MONDO:0018921 "ICD10CM:Q61.9" MONDO:0018921 "OMIM:267010" MONDO:0018921 "NCIT:C98978" MONDO:0018921 "ICD9:759.89" @@ -8900,15 +8690,14 @@ MONDO:0012348 "SCTID:609575003" MONDO:0012348 "DOID:0111105" MONDO:0016096 "Orphanet:206538" MONDO:0016096 "UMLS:C3640983" +MONDO:0016096 "ICD10CM:C56" MONDO:0016096 "NCIT:C102870" MONDO:0016096 "UMLS:CN200863" -MONDO:0016096 "ICD10:C56" MONDO:0015983 "Orphanet:183763" MONDO:0015983 "UMLS:CN226822" MONDO:0019472 "UMLS:C0392788" MONDO:0019472 "MedDRA:10065855" MONDO:0019472 "NCIT:C4684" -MONDO:0019472 "ICD10:C86.0" MONDO:0019472 "ICDO:9719/3" MONDO:0019472 "GARD:0013270" MONDO:0019472 "Orphanet:86879" @@ -8944,8 +8733,8 @@ MONDO:0009113 "GARD:0001874" MONDO:0009113 "DOID:0111630" MONDO:0009113 "UMLS:C1291620" MONDO:0009113 "NCIT:C131638" +MONDO:0009113 "ICD10CM:D55.2" MONDO:0009113 "Orphanet:714" -MONDO:0009113 "ICD10:D55.2" MONDO:0004142 "UMLS:C1333122" MONDO:0004142 "DOID:7207" MONDO:0004142 "NCIT:C7267" @@ -8957,11 +8746,11 @@ NCBITaxon:71240 "PMID:25249442" NCBITaxon:71240 "PMID:26724406" NCBITaxon:71240 "GC_ID:1" MONDO:0020455 "Orphanet:99130" -MONDO:0020455 "ICD10:Q24.8" +MONDO:0020455 "ICD10CM:Q24.8" MONDO:0001633 "UMLS:C0007688" MONDO:0001633 "MESH:D015356" +MONDO:0001633 "ICD10CM:H34.1" MONDO:0001633 "NCIT:C34456" -MONDO:0001633 "ICD10:H34.1" MONDO:0001633 "DOID:13098" MONDO:0001633 "ICD9:362.31" MONDO:0001633 "SCTID:38742007" @@ -8975,10 +8764,10 @@ MONDO:0000895 "DOID:0080186" MONDO:0006798 "MESH:D006986" MONDO:0006798 "SCTID:64559002" MONDO:0006798 "UMLS:C0020579" -MONDO:0006798 "ICD10:E67.0" MONDO:0006798 "MedDRA:10020916" MONDO:0006798 "EFO:1000978" MONDO:0006798 "DOID:9972" +MONDO:0006798 "ICD10CM:E67.0" MONDO:0006798 "ICD9:278.2" MONDO:0033115 "OMIM:617584" MONDO:0033115 "DOID:0080259" @@ -8986,17 +8775,17 @@ MONDO:0033115 "UMLS:CN349871" MONDO:0001841 "NCIT:C40164" MONDO:0001841 "DOID:13951" MONDO:0001841 "UMLS:C1519850" -MONDO:0007744 "ICD10:E78.4" MONDO:0007744 "OMIM:614028" MONDO:0007744 "UMLS:C3875011" MONDO:0007744 "SCTID:15771000119109" MONDO:0007744 "OMIM:143470" MONDO:0007744 "UMLS:CN205999" +MONDO:0007744 "ICD10CM:E78.4" MONDO:0007744 "Orphanet:79506" MONDO:0007744 "UMLS:C0342883" MONDO:0007744 "DOID:0111368" MONDO:0010976 "MESH:C563408" -MONDO:0010976 "ICD10:Q81.0" +MONDO:0010976 "ICD10CM:Q81.0" MONDO:0010976 "Orphanet:89838" MONDO:0010976 "OMIM:601001" MONDO:0005583 "EFO:0005932" @@ -9032,40 +8821,39 @@ MONDO:0011298 "UMLS:C1864124" MONDO:0011298 "OMIM:603206" MONDO:0011298 "DOID:0070084" MONDO:0030453 "OMIM:619561" -MONDO:0019713 "ICD10:Q71.5" -MONDO:0019713 "ICD10:Q72.9" -MONDO:0019713 "ICD10:Q73.8" -MONDO:0019713 "ICD10:Q72.8" -MONDO:0019713 "ICD10:Q73.1" -MONDO:0019713 "ICD10:Q72.2" -MONDO:0019713 "Orphanet:93457" -MONDO:0019713 "ICD10:Q71.9" -MONDO:0019713 "ICD10:Q71.4" -MONDO:0019713 "ICD10:Q72.7" -MONDO:0019713 "ICD10:Q71.3" -MONDO:0019713 "ICD10:Q73.0" -MONDO:0019713 "ICD10:Q72.6" -MONDO:0019713 "ICD10:Q72.1" -MONDO:0019713 "ICD10:Q71.8" -MONDO:0019713 "ICD10:Q72.0" -MONDO:0019713 "ICD10:Q71.2" -MONDO:0019713 "ICD10:Q71.1" -MONDO:0019713 "ICD10:Q72.5" -MONDO:0019713 "ICD10:Q72.4" -MONDO:0019713 "ICD10:Q71.0" -MONDO:0019713 "ICD10:Q71.6" -MONDO:0019713 "ICD10:Q72.3" MONDO:0012244 "Orphanet:1331" MONDO:0012244 "UMLS:C1836436" MONDO:0012244 "OMIM:609299" MONDO:0012244 "MESH:C563744" +MONDO:0019713 "ICD10CM:Q72.1" +MONDO:0019713 "ICD10CM:Q72.2" +MONDO:0019713 "ICD10CM:Q72.9" +MONDO:0019713 "Orphanet:93457" +MONDO:0019713 "ICD10CM:Q71.4" +MONDO:0019713 "ICD10CM:Q71.5" +MONDO:0019713 "ICD10CM:Q72.5" +MONDO:0019713 "ICD10CM:Q72.6" +MONDO:0019713 "ICD10CM:Q72.0" +MONDO:0019713 "ICD10CM:Q72.7" +MONDO:0019713 "ICD10CM:Q72.8" +MONDO:0019713 "ICD10CM:Q71.8" +MONDO:0019713 "ICD10CM:Q71.9" +MONDO:0019713 "ICD10CM:Q71.2" +MONDO:0019713 "ICD10CM:Q71.3" +MONDO:0019713 "ICD10CM:Q72.3" +MONDO:0019713 "ICD10CM:Q72.4" +MONDO:0019713 "ICD10CM:Q71.0" +MONDO:0019713 "ICD10CM:Q71.1" +MONDO:0019713 "ICD10CM:Q71.6" +MONDO:0019713 "ICD10CM:Q73.0" +MONDO:0019713 "ICD10CM:Q73.1" +MONDO:0019713 "ICD10CM:Q73.8" MONDO:0008772 "DOID:0110057" MONDO:0008772 "MESH:C538242" MONDO:0008772 "OMIM:204700" MONDO:0008772 "GARD:0009495" MONDO:0008772 "MESH:C567146" MONDO:0008772 "Orphanet:100033" -MONDO:0008772 "ICD10:K00.5" MONDO:0011181 "OMIM:602078" MONDO:0011181 "MESH:C566587" MONDO:0011181 "Orphanet:45358" @@ -9073,48 +8861,47 @@ MONDO:0011181 "UMLS:C1865915" MONDO:0016786 "ONCOTREE:PHM" MONDO:0016786 "SCTID:237250000" MONDO:0016786 "ICDO:9103/0" -MONDO:0016786 "ICD10:O01.1" MONDO:0016786 "Orphanet:254693" MONDO:0016786 "NCIT:C4293" MONDO:0016786 "UMLS:C0334529" MONDO:0017732 "Orphanet:309282" -MONDO:0017732 "ICD10:E77.1" +MONDO:0017732 "ICD10CM:E77.1" MONDO:0001015 "SCTID:25671008" MONDO:0001015 "NCIT:C128374" MONDO:0001015 "UMLS:C0154652" MONDO:0001015 "ICD9:322.1" MONDO:0001015 "DOID:10361" -MONDO:0010286 "UMLS:C1846055" -MONDO:0010286 "ICD10:Q87.8" -MONDO:0010286 "OMIM:300263" MONDO:0010286 "GARD:0009704" -MONDO:0010286 "MESH:C537333" MONDO:0010286 "Orphanet:85287" +MONDO:0010286 "MESH:C537333" +MONDO:0010286 "UMLS:C1846055" +MONDO:0010286 "ICD10CM:Q87.8" +MONDO:0010286 "OMIM:300263" MONDO:0010286 "DOID:0060812" NCBITaxon:1891762 "GC_ID:1" MONDO:0013338 "DOID:0110204" MONDO:0013338 "GARD:0012454" MONDO:0013338 "UMLS:C3150897" MONDO:0013338 "OMIM:613641" -MONDO:0013338 "ICD10:G60.0" +MONDO:0013338 "ICD10CM:G60.0" MONDO:0013338 "Orphanet:254334" -MONDO:0017390 "ICD10:E71.1" MONDO:0017390 "Orphanet:293355" +MONDO:0017390 "ICD10CM:E71.1" MONDO:0008271 "MESH:C566784" +MONDO:0008271 "ICD10CM:Q69.0" MONDO:0008271 "GARD:0002256" MONDO:0008271 "SCTID:723446006" MONDO:0008271 "Orphanet:93337" MONDO:0008271 "UMLS:C1868113" MONDO:0008271 "OMIM:174600" -MONDO:0008271 "ICD10:Q69.0" MONDO:0060732 "OMIM:618021" MONDO:0007074 "MESH:D000387" MONDO:0007074 "HP:0031009" MONDO:0007074 "OMIM:103400" MONDO:0007074 "UMLS:C0001860" -MONDO:0007074 "ICD10:L94.6" MONDO:0007074 "SCTID:38528001" MONDO:0007074 "NCIT:C84544" +MONDO:0007074 "ICD10CM:L94.6" MONDO:0007074 "ICD9:136.0" MONDO:0007074 "DOID:11329" MONDO:0007074 "GARD:0009512" @@ -9129,7 +8916,6 @@ MONDO:0010169 "Orphanet:886" MONDO:0010169 "Orphanet:231178" MONDO:0010169 "MESH:C536490" MONDO:0010169 "UMLS:C1848634" -MONDO:0010169 "ICD10:H35.5" MONDO:0010169 "OMIM:276901" MONDO:0010169 "DOID:0110838" MONDO:0020234 "Orphanet:98650" @@ -9139,7 +8925,7 @@ MONDO:0010978 "UMLS:C1832917" MONDO:0012630 "DOID:0110046" MONDO:0012630 "MESH:C567000" MONDO:0012630 "Orphanet:1020" -MONDO:0012630 "ICD10:G30" +MONDO:0012630 "ICD10CM:G30" MONDO:0012630 "OMIM:611152" MONDO:0012630 "UMLS:C1970147" MONDO:0011924 "UMLS:C1842922" @@ -9149,6 +8935,7 @@ MONDO:0008154 "MESH:C563485" MONDO:0008154 "OMIM:166400" MONDO:0020644 "NCIT:C5684" MONDO:0020644 "UMLS:C1334453" +MONDO:0100489 "OMIM:275000" CL:1000413 "KUPO:0001095" CL:1000413 "BTO:0004758" CL:1000413 "FMA:67761" @@ -9160,39 +8947,37 @@ MONDO:0019778 "MESH:C537445" MONDO:0019778 "SCTID:719212004" MONDO:0019778 "GARD:0003521" MONDO:0019778 "Orphanet:93974" +MONDO:8000033 "Orphanet:557492" +MONDO:0017498 "ICD10CM:Q71.2" MONDO:0017498 "Orphanet:295093" -MONDO:0017498 "ICD10:Q71.2" MONDO:0005175 "EFO:0002498" MONDO:0017327 "UMLS:C4274424" MONDO:0017327 "UMLS:CN202967" +MONDO:0017327 "ICD10CM:C56" MONDO:0017327 "SCTID:716588005" -MONDO:0017327 "ICD10:C56" MONDO:0017327 "Orphanet:289356" +MONDO:0008375 "OMIM:312530" MONDO:0008375 "UMLS:C0035305" -MONDO:0008375 "SCTID_2010_1_31:42059000" MONDO:0008375 "ICD9:362.40" MONDO:0008375 "ICD9:361.89" -MONDO:0008375 "SCTID_2010_1_31:193347002" MONDO:0008375 "EFO:0005773" MONDO:0008375 "OMIM:180050" MONDO:0008375 "ICD9:361.9" MONDO:0008375 "SCTID:42059000" -MONDO:0008375 "ICD10:H33.2" MONDO:0008375 "DOID:5327" MONDO:0008375 "MESH:D012163" -MONDO:0008375 "SCTID_2010_1_31:155103005" MONDO:0008375 "NCIT:C26874" CL:0002092 "FMA:83621" CL:0002092 "BTO:0004850" MONDO:0018440 "OMIM:602722" -MONDO:0018440 "ICD10:N25.8" MONDO:0018440 "UMLS:C1864498" MONDO:0018440 "OMIM:267300" +MONDO:0018440 "ICD10CM:N25.8" MONDO:0018440 "Orphanet:402041" MONDO:0011501 "Orphanet:166277" -MONDO:0011501 "ICD10:Q78.8" -MONDO:0011501 "OMIM:604922" +MONDO:0011501 "ICD10CM:Q78.8" MONDO:0011501 "MESH:C565734" +MONDO:0011501 "OMIM:604922" MONDO:0011501 "GARD:0010290" MONDO:0011501 "UMLS:C1858032" HP:0003498 "UMLS:C1846797" @@ -9201,18 +8986,18 @@ MONDO:0054869 "MESH:C536245" MONDO:0054869 "GARD:0009852" HP:0004444 "UMLS:C0553720" HP:0004444 "SNOMEDCT_US:17235000" -MONDO:0013570 "ICD10:I42.2" MONDO:0013570 "DOID:0111479" MONDO:0013570 "UMLS:C3279793" MONDO:0013570 "Orphanet:319504" MONDO:0013570 "OMIM:614096" MONDO:0013570 "SCTID:733600007" MONDO:0013570 "UMLS:C4518839" +MONDO:0013570 "ICD10CM:I42.2" MONDO:0019965 "Orphanet:97293" MONDO:0009777 "OMIM:258200" MONDO:0009777 "MESH:C564931" MONDO:0009777 "GARD:0004069" -MONDO:0009777 "ICD10:Q87.2" +MONDO:0009777 "ICD10CM:Q87.2" MONDO:0009777 "Orphanet:2920" MONDO:0009777 "SCTID:721017000" MONDO:0009777 "UMLS:C1850320" @@ -9221,8 +9006,8 @@ MONDO:0018768 "OMIMPS:120100" MONDO:0018768 "Orphanet:47045" MONDO:0018768 "OMIM:616115" MONDO:0018768 "UMLS:CN230757" -MONDO:0018768 "ICD10:L50.2" MONDO:0018768 "UMLS:C0343068" +MONDO:0018768 "ICD10CM:L50.2" MONDO:0018768 "NCIT:C119053" MONDO:0018768 "MedDRA:10064570" MONDO:0018768 "DOID:0090061" @@ -9234,18 +9019,18 @@ MONDO:0008562 "MESH:C566054" MONDO:0008562 "GARD:0005199" MONDO:0017967 "Orphanet:325124" MONDO:0017967 "SCTID:371015003" +MONDO:0017967 "ICD10CM:Q55.0" MONDO:0017967 "GARD:0005819" -MONDO:0017967 "ICD10:Q55.0" MONDO:0010742 "OMIM:313850" MONDO:0010742 "SCTID:281587000" MONDO:0010742 "ICD9:759.89" MONDO:0010742 "UMLS:C0559483" MONDO:0010742 "Orphanet:1335" -MONDO:0010742 "ICD10:Q89.7" MONDO:0010742 "MESH:D058502" MONDO:0010742 "GARD:0007359" +MONDO:0010742 "ICD10CM:Q89.7" MONDO:0010742 "NCIT:C99011" -MONDO:0015553 "ICD10:Q81.2" +MONDO:0015553 "ICD10CM:Q81.2" MONDO:0015553 "SCTID:722436002" MONDO:0015553 "UMLS:CN199732" MONDO:0015553 "Orphanet:158676" @@ -9270,8 +9055,8 @@ MONDO:0015599 "MedDRA:10069664" MONDO:0015599 "ICD9:370.49" MONDO:0015599 "UMLS:C1274788" MONDO:0015599 "SCTID:403434009" +MONDO:0015599 "ICD10CM:H16.2" MONDO:0015599 "Orphanet:163934" -MONDO:0015599 "ICD10:H16.2" MONDO:0002423 "NCIT:C4877" MONDO:0002423 "UMLS:C0345873" MONDO:0002423 "SCTID:126848003" @@ -9281,17 +9066,14 @@ MONDO:0011159 "MESH:C566612" MONDO:0011159 "OMIM:601868" MONDO:0011159 "UMLS:C1866095" MONDO:0011159 "DOID:0110545" -MONDO:0011159 "ICD10:H90.3" MONDO:0016955 "DOID:0111159" MONDO:0016955 "UMLS:C0795812" MONDO:0016955 "GARD:0005347" MONDO:0016955 "MESH:C537644" MONDO:0016955 "Orphanet:262860" -MONDO:0016955 "ICD10:Q92.3" -MONDO:0019139 "ICD10:D68.311" MONDO:0019139 "GARD:0010350" MONDO:0019139 "MedDRA:10053745" -MONDO:0019139 "ICD10:D68.4" +MONDO:0019139 "ICD10CM:D68.311" MONDO:0019139 "Orphanet:73274" MONDO:0019139 "MESH:C536392" MONDO:0019139 "UMLS:C1096116" @@ -9300,7 +9082,6 @@ MONDO:0009144 "GARD:0006313" MONDO:0009144 "ICD9:746.2" MONDO:0009144 "MedDRA:10014075" MONDO:0009144 "NCIT:C84681" -MONDO:0009144 "ICD10:Q22.5" MONDO:0009144 "MESH:D004437" MONDO:0009144 "Orphanet:1880" MONDO:0009144 "DOID:14289" @@ -9320,21 +9101,21 @@ MONDO:0003825 "ONCOTREE:ROCY" MONDO:0003825 "OMIM:553000" MONDO:0003825 "DOID:6245" MONDO:0011671 "DOID:0090104" -MONDO:0011671 "ICD10:G10" MONDO:0011671 "SCTID:721228006" +MONDO:0011671 "ICD10CM:G10" MONDO:0011671 "UMLS:C1847987" MONDO:0011671 "OMIM:606438" MONDO:0011671 "Orphanet:98934" MONDO:0011671 "MESH:C564708" -MONDO:0006635 "MESH:D000151" -MONDO:0006635 "DOID:3091" -MONDO:0006635 "UMLS:C0001139" -MONDO:0006635 "EFO:1000792" -MONDO:0001664 "ICD10:D25.0" MONDO:0001664 "ICD9:218.0" MONDO:0001664 "UMLS:C0153993" MONDO:0001664 "DOID:13222" +MONDO:0001664 "ICD10CM:D25.0" MONDO:0001664 "SCTID:95279007" +MONDO:0006635 "MESH:D000151" +MONDO:0006635 "DOID:3091" +MONDO:0006635 "UMLS:C0001139" +MONDO:0006635 "EFO:1000792" MONDO:0007567 "OMIM:132850" HP:0100872 "UMLS:C4020946" MONDO:0010451 "UMLS:C3887939" @@ -9345,21 +9126,21 @@ MONDO:0016838 "Orphanet:261250" MONDO:0016838 "SCTID:719580004" MONDO:0016838 "GARD:0010935" MONDO:0016838 "UMLS:C4304594" -MONDO:0016838 "ICD10:Q93.5" MONDO:0016838 "UMLS:CN202174" +MONDO:0016838 "ICD10CM:Q93.5" MONDO:0016040 "MESH:C535634" MONDO:0016040 "GARD:0008610" MONDO:0016040 "ICD9:705.89" MONDO:0016040 "SCTID:14070001000004105" -MONDO:0016040 "ICD10:G90.8" MONDO:0016040 "Orphanet:199282" MONDO:0016040 "UMLS:C2029348" +MONDO:0016040 "ICD10CM:G90.8" MONDO:0019557 "Orphanet:90280" MONDO:0019557 "UMLS:CN239336" MONDO:0019557 "MedDRA:10025141" MONDO:0019557 "OMIM:610448" MONDO:0019557 "UMLS:C0024145" -MONDO:0019557 "ICD10:L93.2" +MONDO:0019557 "ICD10CM:L93.2" MONDO:0019557 "DOID:0060386" MONDO:0019557 "OMIM:614415" MONDO:0002092 "UMLS:C0238197" @@ -9370,9 +9151,9 @@ MONDO:0100339 "SCTID:10394003" MONDO:0100339 "ICD9:334.0" MONDO:0100339 "UMLS:C0016719" MONDO:0100339 "DOID:12705" -MONDO:0100339 "ICD10:G11.1" MONDO:0100339 "OMIM:229300" MONDO:0100339 "Orphanet:95" +MONDO:0100339 "ICD10CM:G11.1" MONDO:0100339 "NCIT:C84718" MONDO:0100339 "MedDRA:10017374" MONDO:0100339 "GARD:0006468" @@ -9382,11 +9163,11 @@ MONDO:0020646 "UMLS:C2981712" MONDO:0020646 "NCIT:C88145" HP:0000297 "UMLS:C1845251" HP:0000297 "UMLS:C4280646" -MONDO:0011892 "OMIM:607682" MONDO:0011892 "DOID:0111323" +MONDO:0011892 "OMIM:607682" MONDO:0011892 "Orphanet:307" +MONDO:0017442 "ICD10CM:Q72.1" MONDO:0017442 "Orphanet:294977" -MONDO:0017442 "ICD10:Q72.1" MONDO:0017442 "SCTID:55852007" MONDO:0017442 "ICD9:755.33" HP:0011314 "UMLS:C4021165" @@ -9395,11 +9176,11 @@ MONDO:0013002 "UMLS:C1423873" MONDO:0013002 "OMIM:612775" MONDO:0013002 "DOID:0111020" MONDO:0020852 "OMIM:618112" +MONDO:0015148 "ICD10CM:Q04.3" MONDO:0015148 "Orphanet:102011" -MONDO:0015148 "ICD10:Q04.3" MONDO:0009556 "SCTID:361203007" MONDO:0009556 "GARD:0003371" -MONDO:0009556 "ICD10:E72.8" +MONDO:0009556 "ICD10CM:E72.8" MONDO:0009556 "UMLS:C0342793" MONDO:0009556 "Orphanet:943" MONDO:0009556 "MESH:C535702" @@ -9415,22 +9196,22 @@ MONDO:0006438 "MESH:D015838" MONDO:0006438 "GARD:0006054" MONDO:0006438 "NCIT:C34467" MONDO:0032894 "OMIM:618741" -MONDO:0015484 "ICD10:B69" +MONDO:0015484 "ICD10CM:B69.8" +MONDO:0015484 "ICD10CM:B69.9" MONDO:0015484 "GARD:0008194" -MONDO:0015484 "ICD10:B69.8" -MONDO:0015484 "UMLS:C0010678" MONDO:0015484 "UMLS:C0338437" -MONDO:0015484 "ICD9:123.1" MONDO:0015484 "SCTID:59051007" -MONDO:0015484 "ICD10:B69.9" MONDO:0015484 "EFO:0007231" -MONDO:0015484 "Orphanet:1560" MONDO:0015484 "NCIT:C34520" +MONDO:0015484 "DOID:10079" MONDO:0015484 "MedDRA:10011775" -MONDO:0015484 "ICD10:B69.0" +MONDO:0015484 "UMLS:C0010678" +MONDO:0015484 "ICD10CM:B69" +MONDO:0015484 "ICD10CM:B69.1" MONDO:0015484 "MESH:D003551" -MONDO:0015484 "DOID:10079" -MONDO:0015484 "ICD10:B69.1" +MONDO:0015484 "ICD9:123.1" +MONDO:0015484 "ICD10CM:B69.0" +MONDO:0015484 "Orphanet:1560" MONDO:0020039 "UMLS:CN227738" MONDO:0020039 "Orphanet:98078" MONDO:0023153 "SCTID:4501007" @@ -9439,8 +9220,8 @@ MONDO:0023153 "UMLS:C0275919" NCBITaxon:42414 "GC_ID:1" MONDO:0004398 "DOID:6175" MONDO:0004398 "NCIT:C6643" -MONDO:0004398 "NCIT:C6625" MONDO:0004398 "DOID:7922" +MONDO:0004398 "NCIT:C6625" MONDO:0004398 "UMLS:C1334679" MONDO:0011220 "DOID:0111250" MONDO:0011220 "MESH:C566552" @@ -9455,12 +9236,11 @@ MONDO:0023415 "MEDGEN:575892" MONDO:0014443 "DOID:0110137" MONDO:0014443 "OMIM:615992" MONDO:0014443 "UMLS:C3150127" -MONDO:0014443 "ICD10:Q87.89" MONDO:0014443 "Orphanet:110" MONDO:0000193 "UMLS:CN200166" -MONDO:0000193 "ICD10:E25.8" MONDO:0000193 "OMIM:604931" MONDO:0000193 "ICD9:277.6" +MONDO:0000193 "ICD10CM:E25.8" MONDO:0000193 "GARD:0009882" MONDO:0000193 "DOID:0090139" MONDO:0000193 "MESH:C536447" @@ -9484,7 +9264,7 @@ MONDO:0009627 "OMIM:251300" MONDO:0009627 "UMLS:C0795949" MONDO:0009627 "OMIMPS:251300" MONDO:0009627 "DOID:0080694" -MONDO:0009627 "ICD10:Q04.3" +MONDO:0009627 "ICD10CM:Q04.3" MONDO:0009627 "GARD:0000065" MONDO:0009627 "NCIT:C132195" MONDO:0009627 "Orphanet:2065" @@ -9492,12 +9272,11 @@ MONDO:0009627 "SCTID:721297008" MONDO:0009627 "MESH:C537548" MONDO:0009627 "GARD:65" MONDO:0044274 "OMIM:609070" -MONDO:0020449 "Orphanet:99120" -MONDO:0020449 "ICD10:Q26.8" MONDO:0015788 "UMLS:CN200370" MONDO:0015788 "Orphanet:177929" -MONDO:0015788 "ICD10:D67" -MONDO:0014653 "ICD10:H35.5" +MONDO:0015788 "ICD10CM:D67" +MONDO:0020449 "Orphanet:99120" +MONDO:0020449 "ICD10CM:Q26.8" MONDO:0014653 "OMIM:616469" MONDO:0014653 "DOID:0110395" MONDO:0014653 "UMLS:C4225315" @@ -9507,7 +9286,6 @@ MONDO:0022013 "GARD:0009261" MONDO:0022013 "UMLS:C0238115" MONDO:0022013 "MESH:C536571" MONDO:0011103 "DOID:0110564" -MONDO:0011103 "ICD10:H90.3" MONDO:0011103 "MESH:C567277" MONDO:0011103 "UMLS:C2675750" MONDO:0011103 "GARD:0009933" @@ -9516,11 +9294,11 @@ MONDO:0012661 "OMIM:611382" MONDO:0017850 "GARD:0007652" MONDO:0017850 "SCTID:67254002" MONDO:0017850 "Orphanet:3169" +MONDO:0017850 "ICD10CM:Q87.2" MONDO:0017850 "UMLS:C0037205" MONDO:0017850 "MedDRA:10049216" MONDO:0017850 "NCIT:C118455" MONDO:0017850 "OMIM:600145" -MONDO:0017850 "ICD10:Q87.2" MONDO:0008868 "SCTID:235914003" MONDO:0008868 "UMLS:C0400972" MONDO:0008868 "MESH:C537726" @@ -9537,11 +9315,10 @@ MONDO:0009814 "OMIM:259690" MONDO:0009814 "MESH:C537706" MONDO:0018245 "UMLS:CN204807" MONDO:0018245 "Orphanet:369881" -MONDO:0018245 "ICD10:Q93.5" +MONDO:0018245 "ICD10CM:Q93.5" MONDO:0012728 "OMIM:611777" MONDO:0012728 "Orphanet:130" MONDO:0012728 "UMLS:C2673193" -MONDO:0012728 "ICD10:I49.8" MONDO:0012728 "MESH:C567087" MONDO:0012728 "DOID:0110219" MONDO:0015859 "UMLS:CN200461" @@ -9549,7 +9326,7 @@ MONDO:0015859 "Orphanet:180205" MONDO:0014840 "OMIM:616941" MONDO:0014840 "UMLS:C4310786" MONDO:0017828 "Orphanet:314822" -MONDO:0017828 "ICD10:N25.8" +MONDO:0017828 "ICD10CM:N25.8" MONDO:0017030 "Orphanet:264757" MONDO:0017030 "UMLS:CN202341" MONDO:0021254 "SCTID:126909004" @@ -9558,16 +9335,14 @@ MONDO:0021254 "UMLS:C1263777" MONDO:0043191 "MESH:C536261" MONDO:0043191 "GARD:0004624" MONDO:0043191 "UMLS:C2931143" -MONDO:0032809 "OMIM:618549" -MONDO:0004456 "ICD10:F14.1" MONDO:0004456 "ICD9:305.60" MONDO:0004456 "DOID:809" MONDO:0004456 "ICD9:305.6" MONDO:0004456 "SCTID:78267003" +MONDO:0032809 "OMIM:618549" MONDO:0022898 "GARD:0001600" MONDO:0021644 "ICD9:456.1" -MONDO:0021644 "ICD10:I85.00" -MONDO:0021644 "ICD10:I85.9" +MONDO:0021644 "ICD10CM:I85.00" MONDO:0021644 "SCTID:14223005" MONDO:0021644 "UMLS:C0267092" HP:0001000 "UMLS:C1260926" @@ -9575,8 +9350,8 @@ MONDO:0043106 "SCTID:54336006" MONDO:0043106 "GARD:0002967" MONDO:0014198 "UMLS:C3809592" MONDO:0014198 "SCTID:765403009" -MONDO:0014198 "ICD10:E88.8" MONDO:0014198 "DOID:0080131" +MONDO:0014198 "ICD10CM:E88.8" MONDO:0014198 "GARD:0013298" MONDO:0014198 "Orphanet:369897" MONDO:0014198 "OMIM:615471" @@ -9601,8 +9376,8 @@ MONDO:0006280 "MESH:D047868" MONDO:0006280 "EFO:1000337" MONDO:0006280 "UMLS:C1509148" MONDO:0006280 "DOID:495" -MONDO:0018432 "ICD10:L98.5" MONDO:0018432 "SCTID:111197009" +MONDO:0018432 "ICD10CM:L98.5" MONDO:0018432 "ICD9:701.8" MONDO:0018432 "UMLS:C0263390" MONDO:0018432 "Orphanet:402007" @@ -9624,29 +9399,25 @@ MONDO:0005060 "Orphanet:69078" MONDO:0005060 "EFO:0000569" MONDO:0005060 "ICDO:8850/3" MONDO:0005060 "DOID:3382" -MONDO:0005060 "ICD10:C49.9" MONDO:0005060 "ICD9:171.9" +MONDO:0005060 "ICD10CM:C49.9" MONDO:0004643 "MESH:D007951" MONDO:0004643 "SCTID:188732008" -MONDO:0004643 "ICD10:C92.90" MONDO:0004643 "ICDO:9860/3" MONDO:0004643 "ICD9:205.9" MONDO:0004643 "NCIT:C3172" MONDO:0004643 "ICD9:205.80" MONDO:0004643 "ICD9:205" -MONDO:0004643 "ICD10:C92.9" MONDO:0004643 "ICD9:205.90" MONDO:0004643 "UMLS:C0023470" -MONDO:0004643 "ICD10:C92" MONDO:0004643 "DOID:8692" MONDO:0004643 "GARD:0008226" -MONDO:0001869 "ICD10:C68.1" MONDO:0001869 "UMLS:C0153621" MONDO:0001869 "SCTID:363460002" MONDO:0001869 "DOID:14059" MONDO:0001869 "ICD9:189.4" MONDO:0017537 "Orphanet:295175" -MONDO:0017537 "ICD10:Q69.2" +MONDO:0017537 "ICD10CM:Q69.2" MONDO:0032673 "OMIM:618317" MONDO:0010053 "Orphanet:822" MONDO:0010053 "OMIM:270970" @@ -9655,10 +9426,8 @@ MONDO:0010053 "DOID:0110918" MONDO:0010053 "MESH:C567489" MONDO:0005388 "OMIM:613007" MONDO:0005388 "EFO:0004267" -MONDO:0005388 "ICD10:K74.5" MONDO:0005388 "OMIM:109720" MONDO:0005388 "MedDRA:10004661" -MONDO:0005388 "ICD10:K74.3" MONDO:0005388 "OMIM:613008" MONDO:0005388 "MedDRA:10019137" MONDO:0005388 "SCTID:31712002" @@ -9672,10 +9441,10 @@ MONDO:0005388 "NCIT:C27167" MONDO:0005388 "OMIMPS:109720" MONDO:0005388 "MESH:D008105" MONDO:0005388 "DOID:12236" +MONDO:0012253 "ICD10CM:Q77.3" MONDO:0012253 "UMLS:C1836315" MONDO:0012253 "Orphanet:166029" MONDO:0012253 "OMIM:609324" -MONDO:0012253 "ICD10:Q77.3" MONDO:0012253 "MESH:C563736" MONDO:0011190 "Orphanet:93591" MONDO:0011190 "Orphanet:655" @@ -9685,31 +9454,30 @@ MONDO:0011190 "UMLS:C1865872" MONDO:0011190 "OMIM:602088" MONDO:0018653 "NCIT:C162484" MONDO:0018653 "OMIM:615083" -MONDO:0018653 "ICD10:D12.6" MONDO:0018653 "Orphanet:447877" +MONDO:0018653 "ICD10CM:D12.6" MONDO:0018653 "OMIM:612591" -MONDO:0008764 "ICD10:H35.5" MONDO:0008764 "OMIM:204000" MONDO:0008764 "DOID:0110078" MONDO:0008764 "UMLS:C0339527" MONDO:0008764 "GARD:0000635" MONDO:0020854 "OMIM:618114" MONDO:0010618 "UMLS:CN201292" -MONDO:0010618 "ICD10:E20.8" MONDO:0010618 "NCIT:C131079" MONDO:0010618 "OMIM:307700" MONDO:0010618 "Orphanet:2238" MONDO:0010618 "OMIM:146200" +MONDO:0010618 "ICD10CM:E20.8" MONDO:0010618 "MESH:C563238" MONDO:0010618 "Orphanet:2239" +MONDO:0016778 "ICD10CM:A05.1" MONDO:0016778 "Orphanet:254509" MONDO:0016778 "UMLS:C4288922" MONDO:0016778 "NCIT:C128345" -MONDO:0016778 "ICD10:A05.1" MONDO:0018978 "MedDRA:10027074" -MONDO:0018978 "ICD10:J98.5" MONDO:0018978 "MESH:C536136" MONDO:0018978 "Orphanet:63999" +MONDO:0018978 "ICD10CM:J98.5" MONDO:0018978 "GARD:0008337" NCBITaxon:68459 "GC_ID:6" MONDO:0009816 "DOID:0110943" @@ -9726,22 +9494,21 @@ MONDO:0013655 "Orphanet:178469" MONDO:0013655 "DOID:0070038" MONDO:0013655 "OMIM:614254" MONDO:0003648 "DOID:5782" -MONDO:0003648 "ICD10:H73.9" MONDO:0003648 "SCTID:21426000" -MONDO:0003648 "ICD10:H73.90" MONDO:0003648 "ICD9:384.9" MONDO:0003648 "UMLS:C0041825" -MONDO:0023003 "GARD:0001906" MONDO:0011494 "OMIM:604855" MONDO:0011494 "UMLS:C1858083" MONDO:0011494 "MESH:C565742" +MONDO:0023003 "GARD:0001906" MONDO:0000947 "ICD9:302.89" MONDO:0000947 "ICD9:302.9" +MONDO:0000947 "ICD10CM:F50-F59" MONDO:0000947 "SCTID:56627002" MONDO:0000947 "ICD9:302.79" MONDO:0000947 "DOID:10132" +MONDO:0018024 "ICD10CM:L56.4" MONDO:0018024 "OMIM:603794" -MONDO:0018024 "ICD10:L56.4" MONDO:0018024 "NCIT:C84766" MONDO:0018024 "SCTID:200837006" MONDO:0018024 "Orphanet:330058" @@ -9771,7 +9538,7 @@ MONDO:0004259 "DOID:7519" MONDO:0004259 "NCIT:C28327" MONDO:0004259 "SCTID:372098004" MONDO:0004259 "UMLS:C1299237" -MONDO:0010482 "ICD10:G20" +MONDO:0010482 "ICD10CM:G20" MONDO:0010482 "Orphanet:363654" MONDO:0010482 "UMLS:C3806722" MONDO:0010482 "OMIM:300911" @@ -9780,12 +9547,12 @@ MONDO:0025708 "OMIM:619351" MONDO:0013876 "OMIM:614740" MONDO:0021459 "UMLS:C0153942" MONDO:0021459 "SCTID:92091003" -MONDO:0021459 "ICD10:D13.0" MONDO:0021459 "NCIT:C3598" MONDO:0021459 "ICD9:211.0" +MONDO:0021459 "ICD10CM:D13.0" MONDO:0010549 "DOID:0110209" MONDO:0010549 "NCIT:C129068" -MONDO:0010549 "ICD10:G60.0" +MONDO:0010549 "ICD10CM:G60.0" MONDO:0010549 "Orphanet:101075" MONDO:0010549 "GARD:0001258" MONDO:0010549 "SCTID:763455008" @@ -9794,7 +9561,7 @@ MONDO:0010549 "OMIM:302800" HP:0010576 "UMLS:C4021250" MONDO:0015649 "Orphanet:166430" MONDO:0015649 "UMLS:CN200059" -MONDO:0015649 "ICD10:G40.8" +MONDO:0015649 "ICD10CM:G40.8" MONDO:0007270 "MESH:C566168" MONDO:0007270 "UMLS:C1861861" MONDO:0007270 "Orphanet:75249" @@ -9807,23 +9574,23 @@ MONDO:0009229 "Orphanet:498474" MONDO:0009229 "UMLS:C2745948" MONDO:0009229 "OMIM:228600" MONDO:0011884 "UMLS:C1843285" -MONDO:0011884 "ICD10:Q82.8" +MONDO:0011884 "ICD10CM:Q82.8" MONDO:0011884 "MESH:C564357" MONDO:0011884 "OMIM:607658" MONDO:0011884 "SCTID:763658004" MONDO:0011884 "Orphanet:307936" MONDO:0006848 "MESH:D011502" MONDO:0006848 "SCTID:29740003" +MONDO:0006848 "ICD10CM:E41" MONDO:0006848 "UMLS:C0086588" -MONDO:0006848 "ICD10:E41" MONDO:0006848 "ICD9:261" MONDO:0006848 "MedDRA:10026820" MONDO:0006848 "DOID:12328" MONDO:0006848 "EFO:1001033" MONDO:0100224 "Orphanet:2609" -MONDO:0100224 "ICD10:G71.3" MONDO:0100224 "OMIM:252010" MONDO:0100224 "GARD:0003908" +MONDO:0100224 "ICD10CM:G71.3" MONDO:0100224 "UMLS:C1838979" MONDO:0100224 "DOID:0060536" MONDO:0100224 "MESH:C537475" @@ -9846,21 +9613,20 @@ MONDO:0000479 "DOID:0050838" MONDO:0000479 "SCTID:427945008" MONDO:0043108 "Orphanet:1575" MONDO:0043108 "GARD:0003004" +MONDO:0017336 "ICD10CM:I42.2" MONDO:0017336 "Orphanet:289527" -MONDO:0017336 "ICD10:I42.2" MONDO:0014941 "OMIM:617146" MONDO:0014941 "UMLS:C4310692" MONDO:0008217 "MESH:C566811" MONDO:0008217 "SCTID:719298001" MONDO:0008217 "OMIM:169550" -MONDO:0008217 "ICD10:Q87.5" +MONDO:0008217 "ICD10CM:Q87.5" MONDO:0008217 "Orphanet:2839" MONDO:0008217 "UMLS:C1868508" MONDO:0012936 "Orphanet:67038" MONDO:0012936 "OMIM:612559" MONDO:0002177 "DOID:2018" MONDO:0002177 "SCTID:83469008" -MONDO:0002177 "ICD10:E16.1" MONDO:0002177 "HP:0000842" MONDO:0002177 "ICD9:251.1" MONDO:0002177 "NCIT:C113104" @@ -9875,7 +9641,7 @@ MONDO:0014059 "UMLS:C3554592" MONDO:0014059 "OMIM:615145" MONDO:0014059 "Orphanet:98938" MONDO:0017694 "UMLS:C3888924" -MONDO:0017694 "ICD10:E74.0" +MONDO:0017694 "ICD10CM:E74.0" MONDO:0017694 "SCTID:722302009" MONDO:0017694 "Orphanet:308552" MONDO:0017694 "UMLS:CN203590" @@ -9895,7 +9661,6 @@ MONDO:0006312 "ONCOTREE:MF" MONDO:0006312 "EFO:1000389" MONDO:0006312 "DOID:4386" MONDO:0004151 "ICD9:192.3" -MONDO:0004151 "ICD10:C70.1" MONDO:0004151 "UMLS:C0153647" MONDO:0004151 "DOID:7224" MONDO:0004151 "SCTID:363476006" @@ -9934,21 +9699,19 @@ MONDO:0008907 "SCTID:459063003" MONDO:0008907 "UMLS:C0349653" MONDO:0008907 "Orphanet:79318" MONDO:0008907 "MESH:C535739" -MONDO:0008907 "ICD10:E77.8" MONDO:0008907 "GARD:0009826" +MONDO:0008907 "ICD10CM:E77.8" MONDO:0011316 "MESH:C566378" MONDO:0011316 "UMLS:C1863920" MONDO:0011316 "OMIM:603393" MONDO:0013516 "OMIM:613983" MONDO:0013516 "UMLS:C3151434" -MONDO:0013516 "ICD10:H35.5" MONDO:0013516 "DOID:0110411" NCBITaxon:34390 "GC_ID:1" -MONDO:0006994 "ICD10:G57.50" +MONDO:0006994 "ICD10CM:G57.5" MONDO:0006994 "SCTID:47374004" MONDO:0006994 "EFO:1001208" MONDO:0006994 "MESH:D013641" -MONDO:0006994 "ICD10:G57.5" MONDO:0006994 "GARD:0007733" MONDO:0006994 "MedDRA:10043121" MONDO:0006994 "UMLS:C0039319" @@ -9966,11 +9729,9 @@ MONDO:0007940 "OMIM:154276" MONDO:0007940 "Orphanet:423" MONDO:0007940 "MESH:C535696" MONDO:0007940 "GARD:0003365" -MONDO:0005091 "ICD10:U04.9" MONDO:0005091 "UMLS:C1175175" MONDO:0005091 "NCIT:C85064" MONDO:0005091 "MedDRA:10061982" -MONDO:0005091 "ICD10:J12.81" MONDO:0005091 "SCTID:398447004" MONDO:0005091 "DOID:2945" MONDO:0005091 "Orphanet:140896" @@ -9979,7 +9740,6 @@ MONDO:0005091 "EFO:0000694" MONDO:0005091 "ICD9:079.82" MONDO:0005091 "GARD:0009237" NCBITaxon:86056 "GC_ID:1" -MONDO:0001469 "ICD10:K31.2" MONDO:0001469 "UMLS:C0267183" MONDO:0001469 "SCTID:54051005" MONDO:0001469 "ICD9:537.6" @@ -9988,7 +9748,6 @@ MONDO:0009682 "OMIM:254100" MONDO:0009682 "MESH:C564983" MONDO:0009682 "UMLS:C1850840" MONDO:0013174 "DOID:0110618" -MONDO:0013174 "ICD10:Q34.8" MONDO:0013174 "MESH:C567713" MONDO:0013174 "UMLS:C2750790" MONDO:0013174 "OMIM:613193" @@ -10000,10 +9759,10 @@ MONDO:0002582 "ICD9:208.20" MONDO:0002582 "UMLS:C0153924" MONDO:0022580 "GARD:0000902" MONDO:0012757 "Orphanet:137631" +MONDO:0012757 "ICD10CM:D82.8" MONDO:0012757 "OMIM:611926" MONDO:0012757 "UMLS:C3150156" MONDO:0012757 "SCTID:721977007" -MONDO:0012757 "ICD10:D82.8" MONDO:0004845 "ICD9:528.2" MONDO:0004845 "DOID:9663" MONDO:0004845 "GARD:0005834" @@ -10035,12 +9794,12 @@ NCBITaxon:10335 "GC_ID:1" MONDO:0022519 "GARD:0009519" MONDO:0015157 "UMLS:CN226610" MONDO:0015157 "Orphanet:102024" +MONDO:0014248 "ICD10CM:Q87.8" MONDO:0014248 "UMLS:C3809910" MONDO:0014248 "OMIM:615553" -MONDO:0014248 "ICD10:Q87.8" MONDO:0014248 "Orphanet:370943" MONDO:0013478 "Orphanet:280356" -MONDO:0013478 "ICD10:E88.1" +MONDO:0013478 "ICD10CM:E88.1" MONDO:0013478 "DOID:0070205" MONDO:0013478 "GARD:0012601" MONDO:0013478 "UMLS:C3151268" @@ -10060,6 +9819,7 @@ MONDO:0010799 "DOID:0111734" MONDO:0010799 "OMIM:580000" MONDO:0010799 "MESH:C564013" MONDO:0010799 "Orphanet:168609" +MONDO:0013361 "ICD10CM:D68.2" MONDO:0013361 "UMLS:C0020640" MONDO:0013361 "OMIM:613679" MONDO:0013361 "Orphanet:325" @@ -10067,26 +9827,23 @@ MONDO:0013361 "ICD9:286.3" MONDO:0013361 "DOID:2235" MONDO:0013361 "GARD:0002235" MONDO:0013361 "SCTID:73975000" -MONDO:0013361 "ICD10:D68.2" MONDO:0013361 "MESH:D007020" MONDO:0013361 "NCIT:C131737" MONDO:0010975 "OMIM:600996" -MONDO:0010975 "ICD10:I42.8" MONDO:0010975 "UMLS:C1832931" MONDO:0010975 "MESH:C563409" MONDO:0010975 "DOID:0110071" MONDO:0010975 "Orphanet:217656" MONDO:0100003 "OMIM:300909" NCBITaxon:5654 "GC_ID:1" -MONDO:0015086 "ICD10:Q87.5" +MONDO:0015086 "ICD10CM:Q87.5" MONDO:0015086 "Orphanet:100978" MONDO:0015086 "UMLS:CN197384" MONDO:0015086 "GARD:0000853" NCBITaxon:6187 "GC_ID:1" -MONDO:0001813 "ICD10:H01.02" MONDO:0001813 "ICD9:373.02" +MONDO:0001813 "ICD10CM:H01.02" MONDO:0001813 "UMLS:C0155174" -MONDO:0001813 "ICD10:H01.021-H01.029" MONDO:0001813 "MEDGEN:509829" MONDO:0001813 "SCTID:58912008" MONDO:0001813 "DOID:13825" @@ -10097,8 +9854,8 @@ MONDO:0009095 "OMIM:221810" MONDO:0009095 "MESH:C535373" MONDO:0009095 "UMLS:C1857301" MONDO:0009095 "GARD:0001814" -MONDO:0015344 "ICD10:G37.3" MONDO:0015344 "Orphanet:139423" +MONDO:0015344 "ICD10CM:G37.3" MONDO:0012466 "OMIM:610297" MONDO:0012466 "MESH:C565204" MONDO:0012466 "Orphanet:2828" @@ -10113,13 +9870,14 @@ MONDO:0042956 "GARD:0000311" MONDO:0007942 "OMIM:154370" MONDO:0032935 "OMIM:618821" MONDO:0021059 "UMLS:C1333941" +MONDO:0021059 "ICD10CM:M26-M27" MONDO:0021059 "NCIT:C27571" -MONDO:0011064 "ICD10:Q77.8" MONDO:0011064 "GARD:0003226" MONDO:0011064 "UMLS:C1832410" MONDO:0011064 "Orphanet:1421" MONDO:0011064 "OMIM:601376" MONDO:0011064 "MESH:C563330" +MONDO:0011064 "ICD10CM:Q77.8" MONDO:0012349 "OMIM:609813" MONDO:0012349 "UMLS:C1853296" MONDO:0012349 "GARD:0004973" @@ -10127,7 +9885,7 @@ MONDO:0012349 "Orphanet:2311" MONDO:0019044 "Orphanet:68347" MONDO:0019044 "UMLS:CN205528" MONDO:0014810 "UMLS:C4225173" -MONDO:0014810 "ICD10:D81.8" +MONDO:0014810 "ICD10CM:D81.8" MONDO:0014810 "Orphanet:317473" MONDO:0014810 "OMIM:616873" MONDO:0004320 "UMLS:C0281329" @@ -10135,13 +9893,13 @@ MONDO:0004320 "DOID:7656" MONDO:0004320 "NCIT:C8289" NCBITaxon:8016 "GC_ID:1" HP:0002719 "UMLS:C0239998" +MONDO:0019607 "ICD10CM:M08.8" MONDO:0019607 "Orphanet:91140" -MONDO:0019607 "ICD10:M08.8" MONDO:0009114 "NCIT:C128190" MONDO:0009114 "Orphanet:35122" MONDO:0009114 "DOID:0111633" MONDO:0009114 "SCTID:78373000" -MONDO:0009114 "ICD10:E74.3" +MONDO:0009114 "ICD10CM:E74.3" MONDO:0009114 "UMLS:C1283620" MONDO:0009114 "OMIM:222900" MONDO:0009114 "MedDRA:10066387" @@ -10157,25 +9915,25 @@ MONDO:0002385 "EFO:1000213" MONDO:0002014 "DOID:14759" MONDO:0002014 "UMLS:C0268340" MONDO:0002014 "SCTID:70610001" +MONDO:0020456 "ICD10CM:Q24.8" MONDO:0020456 "Orphanet:99131" -MONDO:0020456 "ICD10:Q24.8" MONDO:0044266 "HGNC:12813" NCBITaxon:34064 "PMID:16280474" NCBITaxon:34064 "PMID:26747442" NCBITaxon:34064 "GC_ID:11" NCBITaxon:34064 "PMID:22939414" -MONDO:0005761 "ICD10:B74.1" +MONDO:0005761 "ICD10CM:B74.2" MONDO:0005761 "SCTID:240820001" MONDO:0005761 "MedDRA:10016675" -MONDO:0005761 "ICD10:B74.0" MONDO:0005761 "SCTID:14100003" MONDO:0005761 "NCIT:C128360" MONDO:0005761 "DOID:12211" -MONDO:0005761 "ICD10:B74.2" MONDO:0005761 "GARD:0003321" MONDO:0005761 "ICD9:374.83" MONDO:0005761 "EFO:0007272" +MONDO:0005761 "ICD10CM:B74.0" MONDO:0005761 "MESH:D004605" +MONDO:0005761 "ICD10CM:B74.1" MONDO:0005761 "Orphanet:2035" NCBITaxon:5151 "GC_ID:1" MONDO:0008909 "GARD:0009840" @@ -10206,7 +9964,7 @@ MONDO:0007179 "SCTID:85828009" MONDO:0013518 "OMIM:613986" MONDO:0013518 "Orphanet:95494" MONDO:0013518 "UMLS:C3151440" -MONDO:0019265 "ICD10:E16.1" +MONDO:0019265 "ICD10CM:E16.1" MONDO:0019265 "Orphanet:79298" MONDO:0004613 "UMLS:C0001363" MONDO:0004613 "DOID:8590" @@ -10216,7 +9974,7 @@ MONDO:0004613 "ICD9:557.0" MONDO:0018922 "GARD:0006130" MONDO:0018922 "UMLS:CN205305" MONDO:0018922 "SCTID:127055007" -MONDO:0018922 "ICD10:D59.1" +MONDO:0018922 "ICD10CM:D59.1" MONDO:0018922 "UMLS:C1264008" MONDO:0018922 "Orphanet:56425" MONDO:0021488 "SCTID:92169007" @@ -10230,8 +9988,8 @@ MONDO:0009301 "Orphanet:242" MONDO:0010578 "SCTID:702423009" MONDO:0010578 "GARD:0008331" MONDO:0010578 "MESH:C535808" -MONDO:0010578 "ICD10:G31.8" MONDO:0010578 "ICD9:759.89" +MONDO:0010578 "ICD10CM:G31.8" MONDO:0010578 "DOID:0050757" MONDO:0010578 "UMLS:C0796074" MONDO:0010578 "OMIM:304700" @@ -10251,13 +10009,11 @@ MONDO:0019473 "ONCOTREE:EATL" MONDO:0019473 "NCIT:C4737" MONDO:0019473 "GARD:0009809" MONDO:0019473 "Orphanet:86880" -MONDO:0019473 "ICD10:C86.2" MONDO:0019473 "SCTID:277654008" MONDO:0019473 "UMLS:C0456889" MONDO:0019473 "MedDRA:10022703" MONDO:0019473 "MESH:D058527" MONDO:0019473 "ICDO:9717/3" -MONDO:0018276 "ICD10:G71.2" MONDO:0018276 "OMIM:613153" MONDO:0018276 "OMIM:615249" MONDO:0018276 "OMIM:615350" @@ -10277,6 +10033,7 @@ MONDO:0018276 "OMIM:613155" MONDO:0018276 "OMIM:614643" MONDO:0018276 "OMIM:615041" MONDO:0018276 "OMIM:613156" +MONDO:0018276 "ICD10CM:G71.2" MONDO:0018276 "OMIM:613151" MONDO:0018276 "OMIM:614830" MONDO:0016964 "GARD:0005311" @@ -10284,7 +10041,6 @@ MONDO:0016964 "Orphanet:262941" MONDO:0005397 "NCIT:C26785" MONDO:0005397 "MESH:D006042" MONDO:0005397 "HP:0000853" -MONDO:0005397 "ICD10:E04.9" MONDO:0005397 "EFO:0004283" MONDO:0005397 "ICD9:240.9" MONDO:0005397 "DOID:12176" @@ -10334,16 +10090,13 @@ MONDO:0007576 "UMLS:C0546837" MONDO:0007576 "UMLS:C0152018" MONDO:0007576 "ICD9:150.5" MONDO:0007576 "SCTID:363402007" -MONDO:0007576 "ICD10:C15.5" MONDO:0007576 "NCIT:C7478" -MONDO:0007576 "ICD10:C15.3" MONDO:0007576 "SCTID:126817006" MONDO:0007576 "UMLS:C0014859" MONDO:0007576 "ICD9:150.8" MONDO:0007576 "ICD9:150.2" MONDO:0007576 "GARD:0006383" MONDO:0007576 "Orphanet:70482" -MONDO:0007576 "ICD10:C15.4" MONDO:0007576 "Orphanet:99977" MONDO:0007576 "DOID:5041" MONDO:0007576 "OMIM:133239" @@ -10357,10 +10110,10 @@ MONDO:0000507 "OMIM:615422" MONDO:0000507 "GARD:0010899" MONDO:0000507 "Orphanet:52430" MONDO:0000507 "UMLS:C1833662" -MONDO:0000507 "ICD10:G71.8" MONDO:0000507 "DOID:0050881" MONDO:0000507 "OMIM:615424" MONDO:0000507 "SCTID:703544004" +MONDO:0000507 "ICD10CM:G71.8" MONDO:0000507 "OMIM:167320" MONDO:0000507 "OMIMPS:167320" MONDO:0024343 "SCTID:200767005" @@ -10385,14 +10138,14 @@ MONDO:0001992 "UMLS:C0863024" HP:0001877 "UMLS:C4020862" HP:0001877 "SNOMEDCT_US:12222001" HP:0001877 "UMLS:C0391870" +MONDO:0013339 "ICD10CM:I42.0" MONDO:0013339 "DOID:0110435" -MONDO:0013339 "ICD10:I42.0" MONDO:0013339 "UMLS:C3150898" MONDO:0013339 "OMIM:613642" MONDO:0008960 "SCTID:715666007" +MONDO:0008960 "ICD10CM:G60.0" MONDO:0008960 "Orphanet:90103" MONDO:0008960 "OMIM:214370" -MONDO:0008960 "ICD10:G60.0" HP:0000790 "UMLS:C0018965" HP:0000790 "SNOMEDCT_US:53298000" HP:0000790 "MSH:D006417" @@ -10402,17 +10155,17 @@ MONDO:0005006 "ICDO:8964/3" MONDO:0005006 "UMLS:CN242113" MONDO:0005006 "DOID:4880" MONDO:0005006 "EFO:0000350" -MONDO:0005006 "ICD10:C64" MONDO:0005006 "ONCOTREE:CCSK" +MONDO:0005006 "ICD10CM:C64" MONDO:0005006 "Orphanet:457246" MONDO:0005006 "NCIT:C4264" MONDO:0002387 "DOID:268" +MONDO:0002387 "ICD10CM:C22.3" MONDO:0002387 "GARD:0005813" MONDO:0002387 "UMLS:C0345907" MONDO:0002387 "SCTID:109844006" MONDO:0002387 "ICDO:9124/3" MONDO:0002387 "ONCOTREE:LIAS" -MONDO:0002387 "ICD10:C22.3" MONDO:0002387 "NCIT:C4438" MONDO:0007075 "MESH:C566307" MONDO:0007075 "Orphanet:91416" @@ -10428,21 +10181,20 @@ MONDO:0011299 "UMLS:C1864112" MONDO:0011299 "DOID:0090103" MONDO:0011299 "Orphanet:157941" MONDO:0011299 "OMIM:603218" -MONDO:0011299 "ICD10:G10" +MONDO:0011299 "ICD10CM:G10" MONDO:0011299 "MESH:C566398" MONDO:0030454 "OMIM:619562" MONDO:0024564 "Orphanet:313838" MONDO:0024564 "OMIM:612199" MONDO:0013011 "UMLS:C2748552" -MONDO:0013011 "ICD10:Q21.1" MONDO:0013011 "MESH:C567561" MONDO:0013011 "DOID:0110110" MONDO:0013011 "OMIM:612794" MONDO:0013011 "Orphanet:1478" NCBITaxon:38946 "GC_ID:1" -MONDO:0012631 "ICD10:G30" MONDO:0012631 "UMLS:C1970144" MONDO:0012631 "OMIM:611154" +MONDO:0012631 "ICD10CM:G30" MONDO:0012631 "MESH:C566999" MONDO:0012631 "DOID:0110047" NCBITaxon:82105 "GC_ID:1" @@ -10456,8 +10208,8 @@ MONDO:0010287 "DOID:0110769" MONDO:0010287 "OMIM:300266" MONDO:0010287 "GARD:0009585" MONDO:0010287 "Orphanet:100997" +MONDO:0010287 "ICD10CM:G11.4" MONDO:0010287 "UMLS:C1846046" -MONDO:0010287 "ICD10:G11.4" MONDO:0010287 "MESH:C536643" MONDO:0005950 "SCTID:42338000" MONDO:0005950 "ICD9:003.0" @@ -10465,56 +10217,53 @@ MONDO:0005950 "EFO:0007475" MONDO:0005950 "MESH:D012478" HP:0005387 "UMLS:C0494261" MONDO:0020458 "UMLS:C1863235" -MONDO:0020458 "ICD10:D55.3" MONDO:0020458 "Orphanet:99138" MONDO:0020458 "MESH:C566314" MONDO:0020458 "UMLS:CN207319" MONDO:0020458 "OMIM:102730" +MONDO:0020458 "ICD10CM:D55.3" CL:0000048 "FMA:84789" MONDO:0005176 "PMID:20545565" MONDO:0005176 "Wikipedia:Insulitis" MONDO:0005176 "EFO:0002502" MONDO:0017328 "UMLS:CN202968" -MONDO:0017328 "ICD10:C22.7" +MONDO:0017328 "ICD10CM:C22.7" MONDO:0017328 "Orphanet:289362" MONDO:0015680 "Orphanet:168778" MONDO:0020235 "Orphanet:98652" MONDO:0002795 "DOID:3865" MONDO:0002795 "UMLS:C1332196" MONDO:0002795 "NCIT:C5411" -MONDO:0010979 "ICD10:G72.3" MONDO:0010979 "Orphanet:768" MONDO:0010979 "DOID:0060173" -MONDO:0010979 "ICD10:I45.8" MONDO:0010979 "NCIT:C142894" MONDO:0010979 "UMLS:C1832916" +MONDO:0010979 "ICD10CM:I45.8" MONDO:0010979 "Orphanet:65283" MONDO:0010979 "MESH:C536962" MONDO:0010979 "GARD:0009294" MONDO:0010979 "OMIM:601005" MONDO:0011925 "NCIT:C118783" -MONDO:0011925 "ICD10:G71.2" MONDO:0011925 "SCTID:111503008" MONDO:0011925 "Orphanet:258" MONDO:0011925 "EFO:0009138" MONDO:0011925 "DOID:0110636" MONDO:0011925 "OMIM:607855" +MONDO:0011925 "ICD10CM:G71.2" MONDO:0011925 "GARD:0003843" MONDO:0011925 "UMLS:C1263858" MONDO:0010860 "OMIM:600316" MONDO:0010860 "UMLS:C1838263" MONDO:0010860 "DOID:0110488" -MONDO:0010860 "ICD10:H90.3" MONDO:0010860 "MESH:C563961" MONDO:0011502 "DOID:0110630" MONDO:0011502 "UMLS:C1858028" MONDO:0011502 "Orphanet:3463" MONDO:0011502 "MESH:C565733" MONDO:0011502 "OMIM:604928" -MONDO:0011502 "ICD10:E13.8" MONDO:0016097 "SCTID:765197008" MONDO:0016097 "Orphanet:206546" -MONDO:0016097 "ICD10:G71.0" +MONDO:0016097 "ICD10CM:G71.0" MONDO:0016097 "UMLS:CN200864" MONDO:0017000 "Orphanet:263717" MONDO:0009778 "MESH:C564930" @@ -10523,9 +10272,9 @@ MONDO:0009778 "OMIM:258300" MONDO:0018769 "MedDRA:10023076" MONDO:0018769 "GARD:0003033" MONDO:0018769 "MESH:D021865" +MONDO:0018769 "ICD10CM:A07.3" MONDO:0018769 "SCTID:371423007" MONDO:0018769 "Orphanet:472" -MONDO:0018769 "ICD10:A07.3" MONDO:0018769 "UMLS:C0311386" MONDO:0018769 "DOID:2112" MONDO:0018769 "NCIT:C4076" @@ -10535,22 +10284,22 @@ NCBITaxon:222543 "GC_ID:1" MONDO:0021653 "UMLS:C0406659" MONDO:0021653 "ICD9:701.8" MONDO:0021653 "SCTID:110981005" +MONDO:0010743 "ICD10CM:D69.4" MONDO:0010743 "UMLS:C1839163" MONDO:0010743 "GARD:0005176" MONDO:0010743 "Orphanet:852" MONDO:0010743 "Orphanet:268322" MONDO:0010743 "OMIM:313900" -MONDO:0010743 "ICD10:D69.4" -MONDO:0100255 "ICD10:E72.1" MONDO:0100255 "OMIM:614300" MONDO:0100255 "OMIM:611094" MONDO:0100255 "MESH:C567015" MONDO:0100255 "UMLS:C1970196" +MONDO:0100255 "ICD10CM:E72.1" MONDO:0100255 "DOID:0111038" MONDO:0100255 "Orphanet:289290" MONDO:0100255 "UMLS:C3280381" -MONDO:0017499 "ICD10:Q71.2" -MONDO:0017499 "ICD10:Q71.23" +MONDO:0017499 "ICD10CM:Q71.2" +MONDO:0017499 "ICD10CM:Q71.23" MONDO:0017499 "Orphanet:295095" MONDO:0054740 "DOID:0080345" MONDO:0054740 "OMIM:119580" @@ -10562,7 +10311,6 @@ MONDO:0003282 "MESH:D010048" MONDO:0003282 "DOID:5119" MONDO:0003282 "HP:0000138" MONDO:0003282 "ICD9:620.2" -MONDO:0003282 "ICD10:N83.2" MONDO:0022729 "GARD:0006050" MONDO:0006799 "EFO:1000979" MONDO:0006799 "UMLS:C0020659" @@ -10580,22 +10328,22 @@ MONDO:0007745 "GARD:0006507" MONDO:0007745 "Orphanet:357" MONDO:0007745 "SCTID:27503000" MONDO:0007745 "DOID:2739" -MONDO:0007745 "ICD10:E80.4" +MONDO:0007745 "ICD10CM:E80.4" MONDO:0007745 "MESH:D005878" MONDO:0002006 "SCTID:41674001" MONDO:0002006 "UMLS:C0155504" MONDO:0002006 "ICD9:386.31" MONDO:0002006 "DOID:1467" -MONDO:0015346 "ICD10:G40.3" MONDO:0015346 "SCTID:716278005" MONDO:0015346 "Orphanet:139431" MONDO:0015346 "UMLS:CN199399" MONDO:0015346 "UMLS:C4274731" +MONDO:0015346 "ICD10CM:G40.3" MONDO:0006636 "EFO:1000793" MONDO:0006636 "MESH:D000189" -MONDO:0008563 "ICD10:Q87.2" MONDO:0008563 "Orphanet:1078" MONDO:0008563 "GARD:0004375" +MONDO:0008563 "ICD10CM:Q87.2" MONDO:0008563 "GARD:0005200" MONDO:0008563 "OMIM:188201" MONDO:0002270 "DOID:2327" @@ -10608,12 +10356,15 @@ MONDO:0017170 "UMLS:CN202595" MONDO:0017170 "Orphanet:276174" MONDO:0017170 "SCTID:763739002" MONDO:0015554 "Orphanet:158766" -MONDO:0015554 "ICD10:Q82.2" +MONDO:0015554 "ICD10CM:Q82.2" MONDO:0024414 "ICD9:682.9" MONDO:0024414 "UMLS:C0241828" MONDO:0024414 "SCTID:238401006" MONDO:0024414 "ICD9:041.84" MONDO:0019296 "Orphanet:79382" +MONDO:0019296 "ICD10CM:L80-L99" +MONDO:0019296 "ICD10CM:L00-L99" +MONDO:0019296 "ICD10CM:L55-L59" MONDO:0019296 "UMLS:C1290008" MONDO:0000395 "NCIT:C92727" MONDO:0000395 "UMLS:C3146244" @@ -10625,7 +10376,7 @@ MONDO:0001478 "DOID:12273" MONDO:0001478 "UMLS:C0003081" MONDO:0001478 "CSP:1116-1678" MONDO:0001478 "MESH:D015858" -MONDO:0001478 "ICD10:H52.31" +MONDO:0001478 "ICD10CM:H52.31" MONDO:0000224 "DOID:0050013" MONDO:0003447 "NCIT:C7567" MONDO:0003447 "UMLS:C1370701" @@ -10637,14 +10388,14 @@ MONDO:0018948 "OMIM:602771" MONDO:0018948 "GARD:0009130" MONDO:0018948 "UMLS:C0270962" MONDO:0018948 "Orphanet:598" -MONDO:0018948 "ICD10:G71.2" +MONDO:0018948 "ICD10CM:G71.2" MONDO:0002424 "NCIT:C7421" MONDO:0002424 "UMLS:C1327709" MONDO:0002424 "DOID:2781" MONDO:0016787 "UMLS:C1266159" MONDO:0016787 "SCTID:609515005" -MONDO:0016787 "ICD10:D39.2" MONDO:0016787 "DOID:3593" +MONDO:0016787 "ICD10CM:D39.2" MONDO:0016787 "Orphanet:254698" MONDO:0016787 "NCIT:C6900" MONDO:0016787 "ICDO:9105/3" @@ -10652,43 +10403,41 @@ MONDO:0016787 "ONCOTREE:ETT" MONDO:0017733 "Orphanet:309288" MONDO:0017733 "GTR:AN0103811" MONDO:0017733 "UMLS:CN036949" +MONDO:0017733 "ICD10CM:E77.1" MONDO:0017733 "GTR:AN0103810" -MONDO:0017733 "ICD10:E77.1" +MONDO:0007240 "OMIM:113900" MONDO:0007240 "GARD:0001093" +MONDO:0007240 "DOID:0111074" MONDO:0007240 "MESH:D002037" MONDO:0007240 "Orphanet:871" -MONDO:0007240 "NCIT:C126651" MONDO:0007240 "EFO:0004138" -MONDO:0007240 "DOID:0111074" -MONDO:0007240 "OMIM:113900" +MONDO:0007240 "NCIT:C126651" MONDO:0006823 "MESH:D007713" MONDO:0006823 "DOID:1921" MONDO:0006823 "SCTID:405769009" MONDO:0006823 "ICD9:758.7" MONDO:0006823 "MedDRA:10023463" -MONDO:0006823 "ICD10:Q98.0" -MONDO:0006823 "ICD10:Q98.4" MONDO:0006823 "UMLS:C0022735" MONDO:0006823 "NCIT:C34752" MONDO:0006823 "EFO:1001006" +MONDO:0016670 "ICD10CM:D57.2" MONDO:0016670 "MedDRA:10056724" -MONDO:0016670 "ICD10:D57.2" MONDO:0016670 "UMLS:C0272084" MONDO:0016670 "Orphanet:251370" MONDO:0016670 "GARD:0012458" MONDO:0020647 "OMIM:618142" MONDO:0012410 "OMIM:610099" -MONDO:0012410 "ICD10:G71.0" MONDO:0012410 "SCTID:763718009" +MONDO:0012410 "ICD10CM:G71.0" MONDO:0012410 "UMLS:C1864706" MONDO:0012410 "Orphanet:399086" MONDO:0001665 "UMLS:C0152944" -MONDO:0001665 "ICD10:A21.1" MONDO:0001665 "ICD9:021.3" MONDO:0001665 "SCTID:73363000" +MONDO:0001665 "ICD10CM:A21.1" MONDO:0001665 "DOID:13226" +MONDO:0017391 "ICD10CM:H18.5" MONDO:0017391 "SCTID:717286002" -MONDO:0017391 "ICD10:H18.5" MONDO:0017391 "Orphanet:293375" MONDO:0007568 "MESH:C537784" MONDO:0007568 "OMIM:132900" @@ -10697,7 +10446,6 @@ MONDO:0007568 "Orphanet:91387" MONDO:0007568 "GARD:0009876" MONDO:0008272 "SCTID:84598000" MONDO:0008272 "NCIT:C125597" -MONDO:0008272 "ICD10:Q70.4" MONDO:0008272 "UMLS:C1868111" MONDO:0008272 "GARD:0009903" MONDO:0008272 "Orphanet:93338" @@ -10715,14 +10463,14 @@ MONDO:0060733 "UMLS:CN248526" MONDO:0010452 "OMIM:300850" MONDO:0010452 "UMLS:C3275443" MONDO:0016041 "SCTID:83714006" +MONDO:0016041 "ICD10CM:Q40.2" MONDO:0016041 "ICD9:750.7" MONDO:0016041 "Orphanet:199293" -MONDO:0016041 "ICD10:Q40.2" MONDO:0030298 "OMIM:619367" MONDO:0019558 "SCTID:200938002" MONDO:0019558 "Orphanet:90281" -MONDO:0019558 "ICD10:L93.0" MONDO:0019558 "NCIT:C26820" +MONDO:0019558 "ICD10CM:L93.0" MONDO:0019558 "UMLS:C0024138" MONDO:0019558 "MESH:D008179" MONDO:0019558 "MedDRA:10013072" @@ -10739,17 +10487,17 @@ HP:0004447 "UMLS:C0221281" HP:0004447 "SNOMEDCT_US:165479004" MONDO:0008155 "Orphanet:2777" MONDO:0008155 "GARD:0000391" -MONDO:0008155 "ICD10:Q78.2" MONDO:0008155 "MESH:C537792" MONDO:0008155 "OMIM:166450" MONDO:0008155 "SCTID:254125009" MONDO:0008155 "UMLS:C0432264" +MONDO:0008155 "ICD10CM:Q78.2" MONDO:0011504 "UMLS:C1857977" MONDO:0011504 "MESH:C537555" MONDO:0011504 "OMIM:605013" -MONDO:0011504 "ICD10:Q04.8" MONDO:0011504 "Orphanet:443162" MONDO:0011504 "Orphanet:1665" +MONDO:0011504 "ICD10CM:Q04.8" MONDO:0011504 "GARD:0010216" NCBITaxon:11628 "GC_ID:1" MONDO:0008986 "UMLS:C1859089" @@ -10766,7 +10514,6 @@ MONDO:0011893 "UMLS:C1843232" MONDO:0011893 "OMIM:607683" MONDO:0011893 "Orphanet:90635" MONDO:0011893 "DOID:0110578" -MONDO:0011893 "ICD10:H90.3" MONDO:0043693 "NCIT:C34783" MONDO:0043693 "MESH:D008108" MONDO:0043693 "EFO:0008573" @@ -10774,21 +10521,21 @@ MONDO:0043693 "SCTID:41309000" MONDO:0020853 "OMIM:618113" MONDO:0015149 "Orphanet:102012" MONDO:0015149 "UMLS:C0393555" -MONDO:0015149 "ICD10:G11.4" +MONDO:0015149 "ICD10CM:G11.4" MONDO:0015149 "SCTID:230260007" MONDO:0033672 "Orphanet:50817" +MONDO:0016262 "ICD10CM:C54.2" MONDO:0016262 "DOID:5289" MONDO:0016262 "ONCOTREE:ULMS" MONDO:0016262 "UMLS:C0280631" MONDO:0016262 "Orphanet:213625" MONDO:0016262 "SCTID:447389009" -MONDO:0016262 "ICD10:C54.2" MONDO:0016262 "NCIT:C6340" MONDO:0010745 "NCIT:C134941" MONDO:0010745 "UMLS:C1839161" MONDO:0010745 "SCTID:718196002" MONDO:0010745 "DOID:0111767" -MONDO:0010745 "ICD10:D69.4" +MONDO:0010745 "ICD10CM:D69.4" MONDO:0010745 "MESH:C564050" MONDO:0010745 "Orphanet:231393" MONDO:0010745 "OMIM:314050" @@ -10813,7 +10560,6 @@ HP:0011733 "UMLS:C4023212" MONDO:0100420 "NCIT:C39712" MONDO:0044275 "OMIM:609338" MONDO:0013571 "OMIM:614097" -MONDO:0013571 "ICD10:E80.3" MONDO:0013571 "NCIT:C84526" MONDO:0013571 "HGNC:1516" MONDO:0013571 "EFO:0004144" @@ -10824,15 +10570,15 @@ MONDO:0013571 "MESH:D020642" MONDO:0013571 "DOID:2582" MONDO:0013571 "Orphanet:926" MONDO:0013571 "ICD9:277.6" +MONDO:0015789 "ICD10CM:E23.0" MONDO:0015789 "Orphanet:178025" -MONDO:0015789 "ICD10:E23.0" MONDO:0014654 "OMIM:616470" MONDO:0014654 "UMLS:C4225314" MONDO:0013400 "Orphanet:168558" MONDO:0013400 "OMIM:613743" MONDO:0013400 "MESH:C566130" MONDO:0013400 "UMLS:C3151055" -MONDO:0013400 "ICD10:Q56.1" +MONDO:0013400 "ICD10CM:Q56.1" MONDO:0013400 "DOID:0050546" MONDO:0013400 "NCIT:C131422" MONDO:0036688 "NCIT:C3358" @@ -10846,9 +10592,9 @@ MONDO:0003828 "UMLS:C1334587" HP:0010974 "UMLS:C4023618" MONDO:0021458 "NCIT:C3489" MONDO:0021458 "UMLS:C0149627" -MONDO:0021458 "ICD10:D29.0" MONDO:0021458 "ICD9:222.1" MONDO:0021458 "SCTID:92286008" +MONDO:0021458 "ICD10CM:D29.0" MONDO:0001268 "ICD9:523.21" MONDO:0001268 "ICD9:523.20" MONDO:0001268 "ICD9:523.23" @@ -10856,19 +10602,19 @@ MONDO:0001268 "ICD9:523.22" MONDO:0001268 "UMLS:C0017572" MONDO:0001268 "NCIT:C82068" MONDO:0001268 "UMLS:C0266916" +MONDO:0001268 "ICD10CM:K06.0" MONDO:0001268 "ICD9:523.24" MONDO:0001268 "SCTID:59898000" MONDO:0001268 "DOID:1134" MONDO:0001268 "MESH:D005889" MONDO:0001268 "ICD9:523.2" -MONDO:0001268 "ICD10:K06.0" MONDO:0005859 "ICD9:085.5" MONDO:0005859 "NCIT:C34769" MONDO:0005859 "UMLS:C1328252" -MONDO:0005859 "ICD10:B55.2" MONDO:0005859 "EFO:0007379" MONDO:0005859 "MESH:D007897" MONDO:0005859 "UMLS:C3495436" +MONDO:0005859 "ICD10CM:B55.2" MONDO:0005859 "DOID:9155" MONDO:0024857 "UMLS:C0855163" MONDO:0024857 "NCIT:C8884" @@ -10888,10 +10634,10 @@ MONDO:0004457 "UMLS:C1334646" MONDO:0004457 "NCIT:C6839" MONDO:0004457 "DOID:8093" MONDO:0022899 "GARD:0001607" -MONDO:0021645 "SCTID:17709002" +MONDO:0021645 "ICD10CM:I85.0" +MONDO:0021645 "ICD10CM:I85.01" MONDO:0021645 "ICD9:456.0" -MONDO:0021645 "ICD10:I85.01" -MONDO:0021645 "ICD10:I85.0" +MONDO:0021645 "SCTID:17709002" MONDO:0016956 "Orphanet:262869" MONDO:0016956 "GARD:0005351" MONDO:0016956 "MESH:C537650" @@ -10903,23 +10649,23 @@ MONDO:0014199 "GARD:0013378" MONDO:0014199 "UMLS:C3809606" MONDO:0009145 "UMLS:C1857069" MONDO:0009145 "OMIM:224750" -MONDO:0009145 "ICD10:Q82.8" MONDO:0009145 "ICD9:758.89" MONDO:0009145 "SCTID:700062000" MONDO:0009145 "Orphanet:50944" MONDO:0009145 "MESH:C565607" MONDO:0009145 "DOID:0111647" +MONDO:0009145 "ICD10CM:Q82.8" MONDO:0007101 "OMIM:613955" +MONDO:0007101 "ICD10EXP:L99.0*" MONDO:0007101 "Orphanet:137807" -MONDO:0007101 "ICD10:L99.0*" MONDO:0007101 "MESH:C562643" -MONDO:0007101 "ICD10:E85.4+" MONDO:0007101 "OMIM:105250" +MONDO:0007101 "ICD10EXP:E85.4+" MONDO:0007101 "UMLS:CN204529" MONDO:0007101 "OMIMPS:105250" MONDO:0007101 "Orphanet:353220" CL:1000362 "FMA:263154" -MONDO:0011672 "ICD10:I72.8" +MONDO:0011672 "ICD10CM:I72.8" MONDO:0011672 "MESH:C564707" MONDO:0011672 "OMIM:606445" MONDO:0011672 "UMLS:C1847973" @@ -10933,22 +10679,19 @@ MONDO:0012883 "DOID:0060318" MONDO:0012883 "MESH:D015473" MONDO:0012883 "OMIM:612376" MONDO:0012883 "EFO:0000224" -MONDO:0012883 "ICD10:C92.4" MONDO:0012883 "MedDRA:10001019" MONDO:0012883 "SCTID:110004001" MONDO:0012883 "NCIT:C3182" -MONDO:0012883 "ICD10:C92.40" MONDO:0012883 "Orphanet:520" MONDO:0012883 "ICDO:9866/3" MONDO:0012883 "UMLS:C0023487" MONDO:0012883 "GARD:0000538" -MONDO:0010619 "ICD10:E83.3" MONDO:0010619 "GARD:0012943" MONDO:0010619 "DOID:0050445" -MONDO:0010619 "ICD10:E83.31" MONDO:0010619 "SCTID:82236004" MONDO:0010619 "OMIM:300554" MONDO:0010619 "OMIM:307800" +MONDO:0010619 "ICD10CM:E83.3" MONDO:0010619 "Orphanet:89936" HP:0100526 "SNOMEDCT_US:126713003" HP:0100526 "NCIT:C3262" @@ -10970,7 +10713,7 @@ MONDO:0004644 "DOID:8696" MONDO:0004644 "UMLS:C0152275" MONDO:0004644 "ICD9:206.2" MONDO:0004644 "ICD9:206.20" -MONDO:0017538 "ICD10:Q69.2" +MONDO:0017538 "ICD10CM:Q69.2" MONDO:0017538 "Orphanet:295177" PO:0025338 "PO_GIT:391" MONDO:0020290 "NCIT:C101029" @@ -10985,7 +10728,6 @@ MONDO:0020290 "Orphanet:98722" MONDO:0020290 "OMIMPS:606215" MONDO:0020290 "OMIM:614430" MONDO:0020290 "OMIM:606217" -MONDO:0020290 "ICD10:Q21.2" MONDO:0020290 "OMIM:614474" MONDO:0020290 "OMIM:600309" MONDO:0020290 "DOID:0050651" @@ -10993,7 +10735,7 @@ MONDO:0010054 "UMLS:C1849109" MONDO:0010054 "OMIM:271109" MONDO:0010054 "MESH:C564807" MONDO:0019851 "UMLS:C4303540" -MONDO:0019851 "ICD10:E28.8" +MONDO:0019851 "ICD10CM:E28.8" MONDO:0019851 "SCTID:717954003" MONDO:0019851 "Orphanet:95709" HP:0003560 "MSH:D009136" @@ -11001,10 +10743,10 @@ HP:0003560 "SNOMEDCT_US:193225000" HP:0003560 "UMLS:C0026850" HP:0003560 "UMLS:C1864711" HP:0003560 "SNOMEDCT_US:73297009" -MONDO:0012254 "ICD10:Q77.3" MONDO:0012254 "MESH:C563735" MONDO:0012254 "OMIM:609325" MONDO:0012254 "Orphanet:166032" +MONDO:0012254 "ICD10CM:Q77.3" MONDO:0012254 "UMLS:C1836307" MONDO:0003321 "OMIMPS:194070" MONDO:0003321 "DOID:5183" @@ -11020,31 +10762,29 @@ MONDO:0008765 "UMLS:C1859844" MONDO:0008765 "OMIM:204100" MONDO:0008765 "MESH:C536601" MONDO:0008765 "GARD:0000636" -MONDO:0008765 "ICD10:H35.5" MONDO:0014257 "DOID:0080391" MONDO:0014257 "UMLS:C3809965" MONDO:0014257 "OMIM:615573" MONDO:0014257 "Orphanet:656" MONDO:0013003 "Orphanet:141152" MONDO:0013003 "OMIM:612776" -MONDO:0013003 "ICD10:Q38.3" MONDO:0013003 "UMLS:C2748587" +MONDO:0013003 "ICD10CM:Q38.3" MONDO:0020855 "OMIM:618115" MONDO:0016779 "Orphanet:254519" MONDO:0016779 "DOID:0111712" MONDO:0016779 "OMIM:608149" +MONDO:0018979 "ICD10CM:G61.8" MONDO:0018979 "UMLS:C0393847" +MONDO:0018979 "ICD10CM:G61.82" MONDO:0018979 "GARD:0011011" MONDO:0018979 "SCTID:230591002" MONDO:0018979 "Orphanet:641" MONDO:0018979 "ICD9:357.89" -MONDO:0018979 "ICD10:G61.8" -MONDO:0018979 "ICD10:G61.82" MONDO:0013370 "DOID:0110648" MONDO:0013370 "UMLS:C3150953" MONDO:0013370 "MESH:C566333" MONDO:0013370 "OMIM:613693" -MONDO:0013370 "ICD10:I45.8" MONDO:0013370 "Orphanet:768" MONDO:0013370 "Orphanet:101016" MONDO:0013370 "GARD:0010434" @@ -11072,7 +10812,7 @@ MONDO:0006849 "UMLS:C0024894" NCBITaxon:42415 "GC_ID:1" MONDO:0012475 "OMIM:610356" MONDO:0012475 "SCTID:719455002" -MONDO:0012475 "ICD10:H35.5" +MONDO:0012475 "ICD10CM:H35.5" MONDO:0012475 "UMLS:C4304714" MONDO:0012475 "UMLS:C1835897" MONDO:0012475 "Orphanet:209932" @@ -11084,17 +10824,16 @@ MONDO:0011221 "MESH:C536696" MONDO:0011221 "UMLS:C1865566" MONDO:0014444 "Orphanet:110" MONDO:0014444 "DOID:0110138" -MONDO:0014444 "ICD10:Q87.89" MONDO:0014444 "UMLS:C3889474" MONDO:0014444 "OMIM:615993" MONDO:0018025 "UMLS:C1510437" MONDO:0018025 "SCTID:52636001" MONDO:0018025 "ICD9:692.73" MONDO:0018025 "Orphanet:330064" -MONDO:0018025 "ICD10:L57.8" +MONDO:0018025 "ICD10CM:L57.8" NCBITaxon:40119 "GC_ID:1" MONDO:0010483 "Orphanet:85277" -MONDO:0010483 "ICD10:Q87.8" +MONDO:0010483 "ICD10CM:Q87.8" MONDO:0010483 "SCTID:719016007" MONDO:0010483 "UMLS:C3806730" MONDO:0010483 "OMIM:300912" @@ -11103,7 +10842,7 @@ MONDO:0015672 "SCTID:62192003" MONDO:0015672 "GARD:0001876" MONDO:0041440 "UMLS:C0730512" MONDO:0041440 "SCTID:313165001" -MONDO:0013877 "ICD10:E74.4" +MONDO:0013877 "ICD10CM:E74.4" MONDO:0013877 "DOID:0080363" MONDO:0013877 "UMLS:C3553607" MONDO:0013877 "Orphanet:447784" @@ -11114,19 +10853,18 @@ MONDO:0016067 "Orphanet:202" MONDO:0016067 "SCTID:278098005" MONDO:0016067 "ICD9:704.8" MONDO:0012662 "Orphanet:231178" -MONDO:0012662 "ICD10:H35.5" MONDO:0012662 "OMIM:611383" MONDO:0012662 "DOID:0110840" MONDO:0012662 "Orphanet:886" MONDO:0019443 "Orphanet:860" +MONDO:0019443 "ICD10CM:Q20.3" MONDO:0019443 "OMIM:608808" MONDO:0019443 "DOID:0060770" -MONDO:0019443 "ICD10:Q20.3" MONDO:0019443 "OMIM:613854" MONDO:0019443 "OMIMPS:608808" MONDO:0018246 "UMLS:CN204808" -MONDO:0018246 "ICD10:Q93.5" MONDO:0018246 "Orphanet:369886" +MONDO:0018246 "ICD10CM:Q93.5" MONDO:0012729 "Orphanet:247511" MONDO:0012729 "OMIM:611783" MONDO:0012729 "UMLS:C2673187" @@ -11149,16 +10887,16 @@ PO:0006210 "PO_GIT:125" MONDO:0100401 "NCIT:C168769" MONDO:0030924 "OMIM:619175" MONDO:0033664 "OMIM:619080" -MONDO:0016254 "ICD10:C54.1" +MONDO:0016254 "ICD10CM:C54.1" MONDO:0016254 "Orphanet:213574" MONDO:0016254 "UMLS:CN201043" NCBITaxon:5653 "GC_ID:1" MONDO:0014942 "DOID:0080428" MONDO:0014942 "OMIM:617153" MONDO:0014942 "UMLS:C4310691" +MONDO:0010901 "ICD10CM:Q87.8" MONDO:0010901 "OMIM:600559" MONDO:0010901 "MESH:C535855" -MONDO:0010901 "ICD10:Q87.8" MONDO:0010901 "SCTID:721015008" MONDO:0010901 "UMLS:C1833607" MONDO:0010901 "Orphanet:2119" @@ -11166,14 +10904,13 @@ MONDO:0010901 "GARD:0002620" MONDO:0019240 "Orphanet:79195" MONDO:0019240 "UMLS:CN227602" MONDO:0019630 "Orphanet:91491" -MONDO:0019630 "ICD10:Q10.1" +MONDO:0019630 "ICD10CM:Q10.1" MONDO:0002178 "ICD9:239.5" MONDO:0002178 "DOID:2021" MONDO:0002178 "SCTID:126920004" MONDO:0002178 "NCIT:C3555" MONDO:0002178 "ICD9:181" MONDO:0002178 "UMLS:C0153572" -MONDO:0002178 "ICD10:C58" MONDO:0003124 "NCIT:C6356" MONDO:0003124 "EFO:1000569" MONDO:0003124 "UMLS:C0863027" @@ -11182,7 +10919,7 @@ MONDO:0003124 "SCTID:67871000119105" MONDO:0008368 "Orphanet:18" MONDO:0008368 "GARD:0004668" MONDO:0008368 "OMIM:179800" -MONDO:0008368 "ICD10:N25.8" +MONDO:0008368 "ICD10CM:N25.8" MONDO:0008368 "Orphanet:93608" MONDO:0006281 "NCIT:C45514" MONDO:0006281 "SCTID:707407001" @@ -11199,12 +10936,11 @@ MONDO:0007492 "GARD:0002027" MONDO:0007492 "OMIM:128100" MONDO:0007492 "OMIM:602554" MONDO:0007492 "Orphanet:256" -MONDO:0007492 "ICD10:G24.1" MONDO:0007492 "UMLS:C3888090" MONDO:0007492 "MESH:C538005" MONDO:0007492 "DOID:0060730" MONDO:0018433 "Orphanet:402014" -MONDO:0018433 "ICD10:C92.0" +MONDO:0018433 "ICD10CM:C92.0" MONDO:0005554 "NCIT:C27204" MONDO:0005554 "DOID:1575" MONDO:0005554 "UMLS:C0035435" @@ -11221,7 +10957,6 @@ MONDO:0006500 "SCTID:400210000" MONDO:0006500 "HP:0001028" MONDO:0006500 "ONCOTREE:HEMA" MONDO:0006500 "MESH:D006391" -MONDO:0006500 "ICD10:D18.0" MONDO:0006500 "DOID:255" MONDO:0006500 "ICD9:228.09" MONDO:0006500 "UMLS:C0018916" @@ -11229,7 +10964,6 @@ MONDO:0006500 "ICD9:228.00" MONDO:0006500 "GARD:0010759" MONDO:0006500 "EFO:1000635" MONDO:0006500 "ICD9:228.0" -MONDO:0006500 "ICD10:D18.00" MONDO:0006500 "NCIT:C3085" MONDO:0009310 "UMLS:C1856245" MONDO:0009310 "Orphanet:379" @@ -11237,13 +10971,13 @@ MONDO:0009310 "MESH:C565531" MONDO:0009310 "OMIM:233710" MONDO:0009310 "DOID:0070191" MONDO:0017695 "Orphanet:308621" -MONDO:0017695 "ICD10:E74.0" MONDO:0017695 "UMLS:CN203594" MONDO:0017695 "OMIM:232500" +MONDO:0017695 "ICD10CM:E74.0" MONDO:0033885 "OMIMPS:220110" MONDO:0016475 "UMLS:CN201470" +MONDO:0016475 "ICD10CM:Q87.3" MONDO:0016475 "Orphanet:231117" -MONDO:0016475 "ICD10:Q87.3" MONDO:0004152 "UMLS:C1333037" MONDO:0004152 "NCIT:C37201" MONDO:0004152 "DOID:7230" @@ -11253,8 +10987,6 @@ MONDO:0006995 "SCTID:249491000119100" MONDO:0006995 "DOID:1089" MONDO:0006995 "EFO:1001210" MONDO:0006995 "ICD9:756.19" -MONDO:0006995 "ICD10:Q05" -MONDO:0006995 "ICD10:Q05.9" HP:0001644 "SNOMEDCT_US:195021004" HP:0001644 "MSH:D002311" HP:0001644 "SNOMEDCT_US:399020009" @@ -11297,14 +11029,13 @@ MONDO:0000948 "UMLS:C3665609" MONDO:0000948 "DOID:10138" MONDO:0000948 "ICD9:375.15" MONDO:0000948 "MESH:D014985" -MONDO:0000948 "ICD10:H04.12" -MONDO:0000948 "ICD10:E50.7" MONDO:0001142 "SCTID:10890000" MONDO:0001142 "UMLS:C0036093" MONDO:0001142 "NCIT:C26879" MONDO:0001142 "ICD9:527.8" MONDO:0001142 "MESH:D012466" MONDO:0001142 "ICD9:527.9" +MONDO:0001142 "ICD10CM:K00-K14" MONDO:0001142 "DOID:10854" MONDO:0001142 "EFO:0008581" MONDO:0003985 "SCTID:712750007" @@ -11317,8 +11048,8 @@ MONDO:0007084 "OMIM:104110" MONDO:0007084 "UMLS:C1863092" MONDO:0007084 "MESH:C566301" CL:0000018 "BTO:0001274" -CL:0000018 "FMA:72294" CL:0000018 "EMAPA:31486" +CL:0000018 "FMA:72294" CL:0000018 "FBbt:00004942" CL:0000018 "WBbt:0006800" CL:0000018 "CALOHA:TS-0950" @@ -11328,10 +11059,10 @@ MONDO:0001400 "DOID:11888" MONDO:0001400 "NCIT:C6162" MONDO:0001400 "UMLS:C1336877" CL:1001587 "CALOHA:TS-1273" -MONDO:0011698 "ICD10:E72.1" MONDO:0011698 "SCTID:763720007" MONDO:0011698 "UMLS:C1847720" MONDO:0011698 "Orphanet:289891" +MONDO:0011698 "ICD10CM:E72.1" MONDO:0011698 "GARD:0010764" MONDO:0011698 "DOID:0111037" MONDO:0011698 "OMIM:606664" @@ -11354,9 +11085,9 @@ MONDO:0005092 "ICDO:8490/3" MONDO:0005092 "DOID:3493" MONDO:0005092 "EFO:0000698" MONDO:0009683 "UMLS:C0270968" +MONDO:0009683 "ICD10CM:G71.0" MONDO:0009683 "MESH:C535897" MONDO:0009683 "SCTID:43226001" -MONDO:0009683 "ICD10:G71.0" MONDO:0009683 "GARD:0003844" MONDO:0009683 "DOID:0110282" MONDO:0009683 "ICD9:359.89" @@ -11377,48 +11108,47 @@ MONDO:0004846 "NCIT:C112857" MONDO:0004846 "MESH:D000037" MONDO:0004846 "ICD9:640.0" MONDO:0004846 "EFO:1001754" -MONDO:0004846 "ICD10:O20.0" MONDO:0007271 "GARD:0009799" +MONDO:0007271 "ICD10CM:L94.8" MONDO:0007271 "MESH:C562925" MONDO:0007271 "SCTID:239139000" -MONDO:0007271 "ICD10:L94.8" MONDO:0007271 "Orphanet:53296" MONDO:0007271 "UMLS:C0406817" MONDO:0007271 "OMIM:115250" MONDO:0002802 "MESH:D003109" MONDO:0002802 "UMLS:C0009374" MONDO:0002802 "DOID:3877" -MONDO:0011885 "ICD10:N10" MONDO:0011885 "UMLS:C1843273" MONDO:0011885 "MedDRA:10069039" +MONDO:0011885 "ICD10CM:N10" MONDO:0011885 "NCIT:C123021" MONDO:0011885 "Orphanet:91500" MONDO:0011885 "OMIM:607665" MONDO:0011885 "MedDRA:10069034" MONDO:0011885 "GARD:0009252" -MONDO:0015158 "ICD10:E85.0" +MONDO:0015158 "ICD10CM:E85.0" MONDO:0015158 "Orphanet:102237" MONDO:0015158 "UMLS:CN197498" -MONDO:0014249 "ICD10:D24" MONDO:0014249 "OMIM:615554" MONDO:0014249 "Orphanet:50920" +MONDO:0014249 "ICD10CM:D24" MONDO:0014249 "UMLS:C3809918" MONDO:0016104 "NCIT:C27589" MONDO:0016104 "Orphanet:206613" MONDO:0016104 "UMLS:C1278821" MONDO:0030339 "OMIM:619453" -MONDO:0009870 "ICD10:Q84.1" MONDO:0009870 "HP:0003777" MONDO:0009870 "SCTID:17170005" MONDO:0009870 "MESH:C562485" MONDO:0009870 "Orphanet:2889" MONDO:0009870 "GARD:0004361" +MONDO:0009870 "ICD10CM:Q84.1" MONDO:0009870 "OMIM:261900" NCBITaxon:41196 "GC_ID:1" +MONDO:0011065 "ICD10CM:Q87.0" MONDO:0011065 "UMLS:C1832408" MONDO:0011065 "MESH:C536072" MONDO:0011065 "Orphanet:97340" -MONDO:0011065 "ICD10:Q87.0" MONDO:0011065 "OMIM:601379" MONDO:0011065 "SCTID:721227001" MONDO:0011065 "GARD:0002754" @@ -11429,15 +11159,15 @@ MONDO:0002770 "NCIT:C50795" MONDO:0002770 "MESH:D019522" MONDO:0017337 "SCTID:764960005" MONDO:0017337 "Orphanet:289548" -MONDO:0017337 "ICD10:E27.1" +MONDO:0017337 "ICD10CM:E27.1" MONDO:0008218 "NCIT:C82865" MONDO:0008218 "Orphanet:2841" MONDO:0008218 "OMIM:169600" -MONDO:0008218 "ICD10:Q82.8" MONDO:0008218 "UMLS:C0085106" MONDO:0008218 "DOID:0050429" MONDO:0008218 "GARD:0006559" MONDO:0008218 "SCTID:79468000" +MONDO:0008218 "ICD10CM:Q82.8" MONDO:0008218 "MESH:D016506" MONDO:0015345 "Orphanet:139426" MONDO:0015345 "SCTID:766815007" @@ -11446,6 +11176,7 @@ MONDO:0012467 "MESH:C564791" MONDO:0012467 "Orphanet:157820" MONDO:0012467 "UMLS:C1853198" MONDO:0012467 "DOID:0080330" +MONDO:0011380 "ICD10CM:E75.2" MONDO:0011380 "NCIT:C122664" MONDO:0011380 "Orphanet:99854" MONDO:0011380 "Orphanet:135" @@ -11457,15 +11188,14 @@ MONDO:0011380 "Orphanet:157719" MONDO:0011380 "Orphanet:99853" MONDO:0011380 "Orphanet:157713" MONDO:0011380 "SCTID:447351004" -MONDO:0011380 "ICD10:E75.2" MONDO:0011380 "Orphanet:157716" MONDO:0011380 "GARD:0000231" MONDO:0011380 "OMIM:615889" MONDO:0011380 "UMLS:C1858991" MONDO:0013580 "MESH:C566729" MONDO:0013580 "UMLS:C3279841" -MONDO:0013580 "ICD10:E74.4" MONDO:0013580 "OMIM:614111" +MONDO:0013580 "ICD10CM:E74.4" MONDO:0013580 "Orphanet:255138" MONDO:0013580 "Orphanet:765" MONDO:0002386 "UMLS:C1272677" @@ -11480,15 +11210,15 @@ MONDO:0014646 "Orphanet:3473" MONDO:0011945 "MESH:C564306" MONDO:0011945 "Orphanet:85212" MONDO:0011945 "OMIM:608013" -MONDO:0011945 "ICD10:E75.2" MONDO:0011945 "DOID:0110960" MONDO:0011945 "UMLS:C1842704" +MONDO:0011945 "ICD10CM:E75.2" MONDO:0011945 "GARD:0010675" MONDO:0011945 "Orphanet:355" MONDO:0015524 "UMLS:CN199665" +MONDO:0015524 "ICD10CM:D12.6" MONDO:0015524 "OMIM:617108" MONDO:0015524 "OMIM:175020" -MONDO:0015524 "ICD10:D12.6" MONDO:0015524 "SCTID:763536006" MONDO:0015524 "Orphanet:157798" MONDO:0015524 "NCIT:C165469" @@ -11497,7 +11227,6 @@ MONDO:0013519 "Orphanet:1775" MONDO:0013519 "OMIM:613987" MONDO:0013519 "UMLS:C3151441" MONDO:0018923 "OMIM:192430" -MONDO:0018923 "ICD10:D82.1" MONDO:0018923 "Orphanet:567" MONDO:0018923 "MedDRA:10012979" MONDO:0018923 "MedDRA:10066430" @@ -11505,9 +11234,8 @@ MONDO:0018923 "GARD:0010299" MONDO:0018923 "OMIM:188400" MONDO:0017860 "Orphanet:31825" MONDO:0017860 "UMLS:CN203895" -MONDO:0017860 "ICD10:T51.1" MONDO:0003417 "ICD9:378.86" -MONDO:0003417 "ICD10:H51.2" +MONDO:0003417 "ICD10CM:H51.2" MONDO:0003417 "DOID:538" MONDO:0003417 "UMLS:C0152134" MONDO:0003417 "SCTID:49823009" @@ -11515,34 +11243,33 @@ MONDO:0004321 "DOID:7664" MONDO:0004321 "UMLS:C1516856" MONDO:0004321 "NCIT:C40153" MONDO:0018277 "OMIM:613151" +MONDO:0018277 "ICD10CM:G71.2" MONDO:0018277 "Orphanet:370959" MONDO:0018277 "OMIM:613156" MONDO:0018277 "OMIM:613155" -MONDO:0018277 "ICD10:G71.2" MONDO:0018277 "OMIM:606612" MONDO:0018277 "OMIM:615351" -MONDO:0019608 "ICD10:Q56.2" +MONDO:0019608 "ICD10CM:Q56.2" MONDO:0019608 "UMLS:CN227662" MONDO:0019608 "Orphanet:91144" MONDO:0009115 "OMIM:223000" MONDO:0009115 "Orphanet:53690" MONDO:0009115 "GARD:0012311" +MONDO:0009115 "ICD10CM:E73.0" MONDO:0009115 "SCTID:5388008" MONDO:0009115 "DOID:0111646" MONDO:0009115 "ICD9:271.3" -MONDO:0009115 "ICD10:E73.0" MONDO:0009115 "MESH:C562600" MONDO:0016965 "UMLS:C0795858" MONDO:0016965 "Orphanet:262950" MONDO:0016965 "MESH:C538040" MONDO:0016965 "GARD:0005314" -MONDO:0015711 "ICD10:D80.6" MONDO:0015711 "Orphanet:169443" MONDO:0004449 "NCIT:C40387" MONDO:0004449 "UMLS:C1512935" MONDO:0004449 "DOID:8068" MONDO:0020457 "Orphanet:99135" -MONDO:0020457 "ICD10:D55.1" +MONDO:0020457 "ICD10CM:D55.1" MONDO:0003573 "UMLS:C0334233" MONDO:0003573 "DOID:5662" MONDO:0003573 "NCIT:C4094" @@ -11569,24 +11296,24 @@ MONDO:0019266 "MedDRA:10051316" MONDO:0019266 "ICD9:706.1" MONDO:0019266 "DOID:13677" MONDO:0019266 "EFO:1001164" -MONDO:0019266 "ICD10:M86.3" MONDO:0019266 "SCTID:60684003" MONDO:0019266 "Orphanet:793" +MONDO:0019266 "ICD10CM:M86.3" MONDO:0019266 "UMLS:C0263859" MONDO:0019266 "MESH:D020083" MONDO:0019266 "GARD:0007606" MONDO:0019266 "NCIT:C119049" MONDO:0009302 "MESH:C565536" MONDO:0009302 "UMLS:C1856272" -MONDO:0009302 "ICD10:Q99.1" MONDO:0009302 "OMIM:233430" +MONDO:0009302 "ICD10CM:Q99.1" MONDO:0009302 "GARD:0002541" MONDO:0009302 "Orphanet:1770" MONDO:0021489 "UMLS:C0684354" MONDO:0021489 "NCIT:C4879" MONDO:0021489 "SCTID:92422009" MONDO:0010579 "GARD:0002580" -MONDO:0010579 "ICD10:Q13.4" +MONDO:0010579 "ICD10CM:Q13.4" MONDO:0010579 "OMIM:304730" MONDO:0010579 "MESH:C535376" MONDO:0010579 "Orphanet:1661" @@ -11599,17 +11326,16 @@ MONDO:0003189 "NCIT:C6848" MONDO:0003189 "UMLS:C1334758" MONDO:0013175 "DOID:0110396" MONDO:0013175 "MESH:C567712" -MONDO:0013175 "ICD10:H35.5" MONDO:0013175 "OMIM:613194" MONDO:0014121 "Orphanet:363454" +MONDO:0014121 "ICD10CM:G12.1" MONDO:0014121 "GARD:0013222" -MONDO:0014121 "ICD10:G12.1" MONDO:0014121 "OMIM:615290" MONDO:0014121 "Orphanet:363447" MONDO:0014121 "UMLS:C3809049" -MONDO:0017190 "ICD10:D35.0" MONDO:0017190 "UMLS:CN202630" -MONDO:0017190 "ICD10:C74.1" +MONDO:0017190 "ICD10CM:C74.1" +MONDO:0017190 "ICD10CM:D35.0" MONDO:0017190 "Orphanet:276621" MONDO:0017190 "GARD:0007385" MONDO:0002804 "ICDO:8401/0" @@ -11620,9 +11346,9 @@ MONDO:0002804 "UMLS:C0334345" MONDO:0030455 "OMIM:619565" MONDO:0008774 "Orphanet:79154" MONDO:0008774 "DOID:0111453" +MONDO:0008774 "ICD10CM:E72.3" MONDO:0008774 "OMIM:204750" MONDO:0008774 "UMLS:C1855626" -MONDO:0008774 "ICD10:E72.3" MONDO:0008774 "OMIM:245130" MONDO:0008774 "MESH:C565453" MONDO:0043537 "EFO:0008571" @@ -11635,8 +11361,8 @@ MONDO:0011183 "UMLS:C0029401" MONDO:0011183 "OMIM:602080" MONDO:0000591 "DOID:0060036" MONDO:0009720 "OMIM:255980" +MONDO:0009720 "ICD10CM:Q87.0" MONDO:0009720 "Orphanet:2662" -MONDO:0009720 "ICD10:Q87.0" MONDO:0009720 "UMLS:C1850627" MONDO:0009720 "GARD:0000267" MONDO:0009720 "MESH:C538337" @@ -11678,7 +11404,6 @@ MONDO:0011230 "MESH:C537143" MONDO:0011230 "UMLS:C1865343" MONDO:0011230 "NCIT:C84975" MONDO:0011230 "DOID:0060887" -MONDO:0006565 "ICD10:L12.2" MONDO:0006565 "ICD9:694.2" MONDO:0006565 "SCTID:5906000" MONDO:0006565 "UMLS:C0152092" @@ -11689,11 +11414,11 @@ MONDO:0021171 "ICD9:759.89" MONDO:0005764 "Orphanet:86902" MONDO:0005764 "NCIT:C9281" MONDO:0005764 "ONCOTREE:FDCS" +MONDO:0005764 "ICD10CM:C96.4" MONDO:0005764 "MESH:D054740" MONDO:0005764 "ICDO:9758/1" MONDO:0005764 "EFO:0007276" MONDO:0005764 "ICDO:9758/3" -MONDO:0005764 "ICD10:C96.4" MONDO:0005764 "DOID:6262" MONDO:0005764 "UMLS:C1260325" MONDO:0009941 "OMIM:265850" @@ -11709,10 +11434,10 @@ MONDO:0015681 "SCTID:71961003" MONDO:0015681 "MedDRA:10008522" MONDO:0015681 "GARD:0006040" MONDO:0015681 "UMLS:C0236791" -MONDO:0015681 "ICD10:F84.3" MONDO:0024565 "Orphanet:247820" MONDO:0024565 "UMLS:C3150807" MONDO:0024565 "OMIM:613573" +MONDO:0007943 "ICD10CM:Q75.4" MONDO:0007943 "DOID:5768" MONDO:0007943 "SCTID:35520007" MONDO:0007943 "GARD:0000498" @@ -11722,7 +11447,6 @@ MONDO:0007943 "MESH:C538184" MONDO:0007943 "UMLS:C1332140" MONDO:0007943 "NCIT:C35795" MONDO:0007943 "UMLS:C0265245" -MONDO:0007943 "ICD10:Q75.4" MONDO:0032936 "OMIM:618822" MONDO:0006880 "DOID:4557" MONDO:0006880 "SCTID:67795000" @@ -11746,7 +11470,6 @@ MONDO:0017001 "Orphanet:263720" MONDO:0012990 "MESH:C567197" MONDO:0012990 "GARD:0010882" MONDO:0012990 "DOID:0110330" -MONDO:0012990 "ICD10:H35.5" MONDO:0012990 "UMLS:C2675186" MONDO:0012990 "OMIM:612712" MONDO:0020459 "SCTID:18273004" @@ -11767,7 +11490,7 @@ MONDO:0017329 "UMLS:CN202969" MONDO:0017329 "OMIM:193000" MONDO:0017329 "OMIM:615963" MONDO:0017329 "OMIM:614317" -MONDO:0017329 "ICD10:N13.7" +MONDO:0017329 "ICD10CM:N13.7" MONDO:0017329 "OMIMPS:193000" MONDO:0017329 "OMIM:615390" MONDO:0017329 "OMIM:314550" @@ -11783,7 +11506,6 @@ MONDO:0008377 "UMLS:C0035334" MONDO:0008377 "GARD:0009149" MONDO:0008377 "DOID:0110390" MONDO:0008377 "MESH:C538365" -MONDO:0008377 "ICD10:H35.5" MONDO:0008377 "UMLS:C0220701" MONDO:0002796 "NCIT:C9497" MONDO:0002796 "DOID:3868" @@ -11792,7 +11514,7 @@ MONDO:0002796 "UMLS:C1275668" MONDO:0002796 "ONCOTREE:MMBL" MONDO:0030860 "OMIM:619112" MONDO:0018442 "Orphanet:40366" -MONDO:0018442 "ICD10:Q86.8" +MONDO:0018442 "ICD10CM:Q86.8" MONDO:0018442 "MESH:C538169" MONDO:0018442 "SCTID:725287006" MONDO:0018442 "GARD:0000468" @@ -11804,11 +11526,9 @@ MONDO:0004614 "UMLS:C0023466" MONDO:0004614 "MESH:D007951" MONDO:0004614 "DOID:8593" MONDO:0004614 "ICD9:206.11" -MONDO:0004614 "ICD10:C93.1" MONDO:0004614 "NCIT:C34774" MONDO:0004614 "ICD9:206.1" MONDO:0010861 "UMLS:C1838262" -MONDO:0010861 "ICD10:E10" MONDO:0010861 "OMIM:600318" MONDO:0010861 "MESH:C563960" MONDO:0010861 "DOID:0110742" @@ -11821,22 +11541,21 @@ HP:0012440 "UMLS:C4021086" MONDO:0043726 "SCTID:57653000" MONDO:0043726 "MESH:D009102" MONDO:0016098 "Orphanet:206569" -MONDO:0016098 "ICD10:G72.4" MONDO:0016098 "SCTID:715863001" MONDO:0016098 "GARD:0013307" +MONDO:0016098 "ICD10CM:G72.4" MONDO:0013929 "DOID:0110540" MONDO:0013929 "UMLS:C3553932" MONDO:0013929 "OMIM:614861" -MONDO:0013929 "ICD10:H90.3" MONDO:0000625 "NCIT:C4777" MONDO:0000625 "DOID:0060087" MONDO:0000625 "UMLS:C0947786" -MONDO:0009779 "ICD10:Q78.8" MONDO:0009779 "UMLS:C1850318" MONDO:0009779 "GARD:0004076" MONDO:0009779 "Orphanet:2733" MONDO:0009779 "SCTID:725166005" MONDO:0009779 "Orphanet:93329" +MONDO:0009779 "ICD10CM:Q78.8" MONDO:0009779 "OMIM:258315" HP:0011220 "UMLS:C1867446" HP:0011220 "UMLS:C1837260" @@ -11853,17 +11572,17 @@ HP:0001371 "MSH:D003286" HP:0001371 "SNOMEDCT_US:203598005" MONDO:0019474 "UMLS:C1333984" MONDO:0019474 "NCIT:C8459" -MONDO:0019474 "ICD10:C86.1" MONDO:0019474 "MedDRA:10066957" MONDO:0019474 "ICDO:9716/3" MONDO:0019474 "ONCOTREE:HSTCL" +MONDO:0019474 "ICD10CM:C86.1" MONDO:0019474 "SCTID:445406001" MONDO:0019474 "ICD9:202.80" MONDO:0019474 "Orphanet:86882" NCBITaxon:222544 "GC_ID:1" +MONDO:0015230 "ICD10CM:Q87.8" MONDO:0015230 "SCTID:720495005" MONDO:0015230 "UMLS:CN197570" -MONDO:0015230 "ICD10:Q87.8" MONDO:0015230 "Orphanet:1101" MONDO:0015230 "GARD:0000717" MONDO:0008564 "NCIT:C2989" @@ -11871,7 +11590,6 @@ MONDO:0008564 "DOID:11198" MONDO:0008564 "ICD9:279.11" MONDO:0008564 "OMIM:188400" MONDO:0008564 "SCTID:77128003" -MONDO:0008564 "ICD10:D82.1" MONDO:0008564 "GTR:AN1145678" MONDO:0008564 "UMLS:CN734570" MONDO:0008564 "MESH:D004062" @@ -11920,6 +11638,7 @@ MONDO:0018949 "UMLS:C0751336" MONDO:0018949 "OMIM:254130" MONDO:0018949 "OMIM:614321" MONDO:0018949 "OMIM:160300" +MONDO:0018949 "ICD10CM:G71.0" MONDO:0018949 "OMIM:610099" MONDO:0018949 "OMIM:613318" MONDO:0018949 "OMIM:606768" @@ -11929,7 +11648,6 @@ MONDO:0018949 "OMIM:614065" MONDO:0018949 "Orphanet:59135" MONDO:0018949 "DOID:11720" MONDO:0018949 "Orphanet:599" -MONDO:0018949 "ICD10:G71.0" MONDO:0018949 "Orphanet:399096" MONDO:0014973 "UMLS:C4310664" MONDO:0014973 "OMIM:617222" @@ -11947,12 +11665,12 @@ MONDO:0003283 "NCIT:C39958" MONDO:0003283 "SCTID:126902008" MONDO:0003283 "ICD9:239.5" MONDO:0016671 "Orphanet:251375" -MONDO:0016671 "ICD10:D57.2" +MONDO:0016671 "ICD10CM:D57.2" MONDO:0016671 "UMLS:C0272085" +MONDO:0001843 "ICD10CM:D25.1" MONDO:0001843 "DOID:13955" MONDO:0001843 "UMLS:C0153994" MONDO:0001843 "ICD9:218.1" -MONDO:0001843 "ICD10:D25.1" MONDO:0001843 "SCTID:93616000" MONDO:0000918 "UMLS:C0014179" MONDO:0000918 "DOID:1002" @@ -11965,12 +11683,11 @@ MONDO:0007746 "UMLS:C1840438" MONDO:0007746 "OMIM:143850" MONDO:0015347 "Orphanet:139436" MONDO:0015347 "SCTID:84241008" +MONDO:0015347 "ICD10CM:D76.3" MONDO:0015347 "GARD:0007103" MONDO:0015347 "ICD9:272.8" -MONDO:0015347 "UMLS:C0311284" -MONDO:0015347 "ICD10:E78.81" MONDO:0015347 "NCIT:C27896" -MONDO:0015347 "ICD10:D76.3" +MONDO:0015347 "UMLS:C0311284" MONDO:0015347 "MedDRA:10070595" MONDO:0015347 "ICD9:713.0" MONDO:0015347 "DOID:11824" @@ -11984,7 +11701,6 @@ MONDO:0006637 "DOID:12556" MONDO:0006637 "UMLS:C0022672" MONDO:0006637 "SCTID:35455006" MONDO:0006637 "MedDRA:10023441" -MONDO:0006637 "ICD10:N17.0" MONDO:0006637 "EFO:1000794" MONDO:0006637 "ICD9:584.5" MONDO:0002388 "DOID:2682" @@ -12021,8 +11737,8 @@ MONDO:0033809 "Orphanet:519390" MONDO:0016788 "SCTID:766929007" MONDO:0016788 "Orphanet:254704" MONDO:0017734 "MedDRA:10058800" -MONDO:0017734 "ICD10:E77.1" MONDO:0017734 "Orphanet:309294" +MONDO:0017734 "ICD10CM:E77.1" MONDO:0017734 "SCTID:38795005" MONDO:0007241 "MESH:C562759" MONDO:0007241 "UMLS:C0340504" @@ -12030,10 +11746,10 @@ MONDO:0007241 "OMIM:113950" MONDO:0007241 "SCTID:233919006" MONDO:0009367 "GARD:0003427" MONDO:0009367 "DOID:0111255" -MONDO:0009367 "ICD10:Q87.8" MONDO:0009367 "OMIM:236700" MONDO:0009367 "SCTID:702407009" MONDO:0009367 "UMLS:C0948368" +MONDO:0009367 "ICD10CM:Q87.8" MONDO:0009367 "MedDRA:10052312" MONDO:0009367 "Orphanet:2473" MONDO:0009367 "ICD9:758.89" @@ -12048,7 +11764,7 @@ MONDO:0014280 "DOID:0060016" MONDO:0014280 "UMLS:C3810147" MONDO:0014280 "OMIM:615617" MONDO:0011894 "NCIT:C134953" -MONDO:0011894 "ICD10:G60.0" +MONDO:0011894 "ICD10CM:G60.0" MONDO:0011894 "OMIM:607684" MONDO:0011894 "DOID:0110165" MONDO:0011894 "GARD:0009193" @@ -12061,7 +11777,7 @@ MONDO:0007804 "SCTID:56677004" MONDO:0007804 "ICD9:759.89" MONDO:0007804 "UMLS:C0265220" MONDO:0007804 "GARD:0007305" -MONDO:0007804 "ICD10:D33.0" +MONDO:0007804 "ICD10CM:D33.0" MONDO:0007804 "OMIM:146510" MONDO:0007804 "Orphanet:672" MONDO:0007804 "DOID:9248" @@ -12070,12 +11786,12 @@ MONDO:0007804 "MESH:D054975" MONDO:0017392 "SCTID:231934009" MONDO:0017392 "Orphanet:293462" MONDO:0017392 "ICD9:371.56" -MONDO:0017392 "ICD10:H18.5" +MONDO:0017392 "ICD10CM:H18.5" MONDO:0008273 "SCTID:201015007" MONDO:0008273 "UMLS:C0406217" MONDO:0008273 "OMIM:174770" MONDO:0008273 "Orphanet:330061" -MONDO:0008273 "ICD10:L56.4" +MONDO:0008273 "ICD10CM:L56.4" NCBITaxon:4751 "PMID:11062127" NCBITaxon:4751 "PMID:12684019" NCBITaxon:4751 "GC_ID:1" @@ -12084,14 +11800,14 @@ MONDO:0031037 "SCTID:717003001" MONDO:0031037 "OMIM:603284" MONDO:0031037 "OMIM:116860" MONDO:0031037 "OMIMPS:116860" +MONDO:0031037 "ICD10CM:Q28.3" MONDO:0031037 "Orphanet:221061" MONDO:0031037 "OMIM:603285" -MONDO:0031037 "ICD10:Q28.3" MONDO:0004866 "DOID:9739" MONDO:0004866 "ICD9:381.9" +MONDO:0004866 "ICD10CM:H68" MONDO:0004866 "ICD9:381.89" MONDO:0004866 "ICD9:381.8" -MONDO:0004866 "ICD10:H68" MONDO:0004866 "UMLS:C0271468" MONDO:0004866 "SCTID:69494008" MONDO:0013214 "OMIM:613291" @@ -12117,7 +11833,7 @@ MONDO:0008156 "DOID:0110938" MONDO:0008156 "OMIM:166600" MONDO:0008156 "Orphanet:53" MONDO:0008156 "GARD:0000383" -MONDO:0008156 "ICD10:Q78.2" +MONDO:0008156 "ICD10CM:Q78.2" MONDO:0008156 "SCTID:725050005" MONDO:0030025 "OMIM:618862" MONDO:0011505 "UMLS:C1857970" @@ -12149,13 +11865,13 @@ MONDO:0044640 "UMLS:CN237675" MONDO:0032590 "OMIM:618187" MONDO:0032590 "DOID:0080500" MONDO:0033673 "OMIM:619095" -MONDO:0016263 "ICD10:C54.8" MONDO:0016263 "UMLS:CN201052" +MONDO:0016263 "ICD10CM:C54.0" +MONDO:0016263 "ICD10CM:C54.3" MONDO:0016263 "Orphanet:213630" -MONDO:0016263 "ICD10:C54.3" -MONDO:0016263 "ICD10:C54.1" -MONDO:0016263 "ICD10:C54.0" -MONDO:0016263 "ICD10:C54.2" +MONDO:0016263 "ICD10CM:C54.8" +MONDO:0016263 "ICD10CM:C54.2" +MONDO:0016263 "ICD10CM:C54.1" MONDO:0010746 "OMIM:314100" MONDO:0010746 "UMLS:CN074234" MONDO:0010746 "GARD:0010277" @@ -12190,16 +11906,16 @@ MONDO:0043193 "UMLS:C2930979" MONDO:0043193 "GARD:0004712" MONDO:0043193 "MESH:C535676" MONDO:0016450 "UMLS:CN201401" -MONDO:0016450 "ICD10:D59.1" +MONDO:0016450 "ICD10CM:D59.1" MONDO:0016450 "Orphanet:228312" +MONDO:0013572 "ICD10CM:E88.1" MONDO:0013572 "UMLS:C3279800" MONDO:0013572 "Orphanet:435628" -MONDO:0013572 "ICD10:E88.1" MONDO:0013572 "OMIM:614098" -MONDO:0019967 "ICD10:M93.2" +MONDO:0019967 "ICD10CM:M92.2" +MONDO:0019967 "ICD10CM:M93.2" MONDO:0019967 "GARD:0009690" MONDO:0019967 "MedDRA:10064242" -MONDO:0019967 "ICD10:M92.2" MONDO:0019967 "Orphanet:97332" MONDO:0022236 "GARD:0010008" MONDO:0022236 "SCTID:253160006" @@ -12212,23 +11928,21 @@ MONDO:0012884 "OMIM:612378" MONDO:0030852 "OMIM:619103" MONDO:0001269 "MESH:D015422" MONDO:0001269 "ICD9:379.19" -MONDO:0001269 "ICD10:H15.9" MONDO:0001269 "SCTID:33064008" MONDO:0001269 "UMLS:C0036412" -MONDO:0001269 "ICD10:H15" +MONDO:0001269 "ICD10CM:H15-H22" MONDO:0001269 "NCIT:C79717" MONDO:0001269 "DOID:11343" -MONDO:0017171 "ICD10:E76.2" +MONDO:0017171 "ICD10CM:E76.2" MONDO:0017171 "UMLS:CN202600" MONDO:0017171 "Orphanet:276212" MONDO:0015555 "Orphanet:158769" -MONDO:0015555 "ICD10:Q82.2" +MONDO:0015555 "ICD10CM:Q82.2" MONDO:0005062 "GARD:0011955" MONDO:0005062 "NCIT:C3208" MONDO:0005062 "MedDRA:10025310" MONDO:0005062 "DOID:0060058" MONDO:0005062 "OMIM:605027" -MONDO:0005062 "ICD10:C85.9" MONDO:0005062 "SCTID:188498009" MONDO:0005062 "ICD9:202.80" MONDO:0005062 "NCIT:C7065" @@ -12253,7 +11967,6 @@ MONDO:0004645 "UMLS:C0153373" MONDO:0004645 "DOID:8702" MONDO:0004645 "SCTID:363386008" MONDO:0004645 "NCIT:C9320" -MONDO:0004645 "ICD10:C06.0" MONDO:0020121 "GARD:0007922" MONDO:0020121 "OMIM:310095" MONDO:0020121 "OMIM:158800" @@ -12269,8 +11982,8 @@ MONDO:0020121 "UMLS:C0026850" MONDO:0020121 "OMIM:600416" MONDO:0020121 "MedDRA:10028356" MONDO:0020121 "DOID:9884" +MONDO:0020121 "ICD10CM:G71.0" MONDO:0020121 "NCIT:C84910" -MONDO:0020121 "ICD10:G71.0" MONDO:0010232 "GARD:0003017" MONDO:0010232 "Orphanet:2978" MONDO:0010232 "Orphanet:2301" @@ -12278,10 +11991,10 @@ MONDO:0010232 "OMIM:300048" MONDO:0010232 "MESH:C535532" MONDO:0001479 "EFO:1000683" MONDO:0001479 "NCIT:C34544" -MONDO:0001479 "ICD10:A36.3" MONDO:0001479 "SCTID:18901009" MONDO:0001479 "DOID:12275" MONDO:0001479 "ICD9:032.85" +MONDO:0001479 "ICD10CM:A36.3" MONDO:0001479 "UMLS:C0012555" MONDO:0000225 "UMLS:C1282983" MONDO:0000225 "ICD9:082.41" @@ -12291,8 +12004,8 @@ MONDO:0000225 "GARD:0000072" NCBITaxon:89593 "GC_ID:1" MONDO:0002425 "ICD9:154.0" MONDO:0002425 "DOID:2782" +MONDO:0002425 "ICD10CM:C19" MONDO:0002425 "UMLS:C0153443" -MONDO:0002425 "ICD10:C19" MONDO:0002425 "SCTID:363414004" MONDO:0002425 "NCIT:C7420" MONDO:0010314 "SCTID:438583008" @@ -12316,11 +12029,11 @@ MONDO:0009146 "GARD:0009723" MONDO:0009146 "MESH:C535757" MONDO:0009146 "Orphanet:1883" MONDO:0018655 "OMIM:607694" +MONDO:0018655 "ICD10CM:E75.2" MONDO:0018655 "UMLS:CN237713" MONDO:0018655 "Orphanet:447893" -MONDO:0018655 "ICD10:E75.2" -MONDO:0008766 "ICD10:H35.5" MONDO:0008766 "OMIM:204110" +MONDO:0008766 "ICD10CM:H35.5" MONDO:0008766 "SCTID:720983002" MONDO:0008766 "Orphanet:1021" MONDO:0008766 "MESH:C536604" @@ -12330,22 +12043,22 @@ MONDO:0007102 "MESH:C566292" MONDO:0007102 "OMIM:105300" NCBITaxon:188543 "GC_ID:1" MONDO:0020856 "OMIM:618116" +NCBITaxon:4753 "GC_ID:1" MONDO:0002740 "UMLS:C1519869" MONDO:0002740 "DOID:3699" MONDO:0002740 "NCIT:C40137" -NCBITaxon:4753 "GC_ID:1" MONDO:0013371 "OMIM:613694" -MONDO:0013371 "ICD10:I42.0" +MONDO:0013371 "ICD10CM:I42.0" MONDO:0013371 "DOID:0110455" MONDO:0013371 "MESH:C566296" MONDO:0013371 "Orphanet:154" MONDO:0013371 "UMLS:C3160720" MONDO:0023005 "GARD:0001910" MONDO:0016042 "Orphanet:199299" -MONDO:0016042 "ICD10:E23.6" +MONDO:0016042 "ICD10CM:E23.6" MONDO:0019559 "UMLS:CN227653" +MONDO:0019559 "ICD10CM:L93.2" MONDO:0019559 "Orphanet:90282" -MONDO:0019559 "ICD10:L93.2" NCBITaxon:5833 "GC_ID:1" MONDO:0005320 "EFO:0003944" MONDO:0005320 "MESH:D013978" @@ -12362,15 +12075,15 @@ MONDO:0024292 "UMLS:C0744333" MONDO:0024292 "NCIT:C35516" MONDO:0019969 "UMLS:CN206896" MONDO:0019969 "Orphanet:97336" -MONDO:0019969 "ICD10:M92.0" +MONDO:0019969 "ICD10CM:M92.0" HP:0002812 "SNOMEDCT_US:74820003" HP:0002812 "UMLS:C0239138" HP:0002812 "MSH:D060905" MONDO:0020291 "GARD:0002922" MONDO:0020291 "DOID:0070315" MONDO:0020291 "Orphanet:98723" +MONDO:0020291 "ICD10CM:Q22.6" MONDO:0020291 "ICD9:746.89" -MONDO:0020291 "ICD10:Q22.6" MONDO:0020291 "MedDRA:10050053" MONDO:0020291 "NCIT:C99053" MONDO:0020291 "SCTID:268180007" @@ -12382,8 +12095,8 @@ MONDO:0003322 "NCIT:C9146" MONDO:0005448 "EFO:0005129" HP:0012874 "UMLS:C4020716" MONDO:0008010 "OMIM:158030" +MONDO:0011035 "ICD10CM:Q87.1" MONDO:0011035 "MESH:D009456" -MONDO:0011035 "ICD10:Q87.1" MONDO:0011035 "GARD:0000372" MONDO:0011035 "SCTID:715344006" MONDO:0011035 "Orphanet:638" @@ -12391,9 +12104,9 @@ MONDO:0011035 "OMIM:601321" MONDO:0011035 "MESH:C537393" MONDO:0011035 "DOID:0111683" MONDO:0014258 "UMLS:C3809971" -MONDO:0014258 "ICD10:E72.8" MONDO:0014258 "Orphanet:391376" MONDO:0014258 "OMIM:615574" +MONDO:0014258 "ICD10CM:E72.8" MONDO:0013004 "UMLS:C2748586" MONDO:0013004 "MESH:C567566" MONDO:0013004 "OMIM:612777" @@ -12414,7 +12127,6 @@ MONDO:0015486 "OMIMPS:148300" MONDO:0015486 "OMIM:614629" MONDO:0015486 "MedDRA:10023353" MONDO:0015486 "NCIT:C26806" -MONDO:0015486 "ICD10:H18.6" MONDO:0015486 "GARD:0006824" MONDO:0015486 "Orphanet:156071" MONDO:0015486 "SCTID:65636009" @@ -12422,7 +12134,6 @@ MONDO:0015486 "OMIM:614623" MONDO:0015486 "ICD9:371.6" MONDO:0015486 "MESH:D007640" MONDO:0015486 "Orphanet:2335" -MONDO:0015486 "ICD10:H18.60" MONDO:0015486 "OMIM:614628" MONDO:0015486 "OMIM:608586" MONDO:0015486 "ICD9:371.60" @@ -12436,14 +12147,12 @@ MONDO:0006052 "NCIT:C26899" MONDO:0006052 "MESH:D014397" MONDO:0006052 "SCTID:154283005" MONDO:0006052 "ICD9:011.80" -MONDO:0006052 "ICD10:A15.0" MONDO:0006052 "ICD9:011.90" MONDO:0006052 "ICD9:011.16" MONDO:0006052 "DOID:2957" MONDO:0006052 "ICD9:011.9" MONDO:0006052 "ICD9:011.85" MONDO:0006052 "ICD9:011.96" -MONDO:0006052 "ICD10:A15" MONDO:0006052 "UMLS:C0041327" MONDO:0006052 "ICD9:011.86" MONDO:0006052 "EFO:1000049" @@ -12453,7 +12162,7 @@ MONDO:0006052 "ICD9:011.81" MONDO:0006052 "ICD9:011.84" HP:0012757 "UMLS:C4022739" MONDO:0012476 "OMIM:610357" -MONDO:0012476 "ICD10:G11.4" +MONDO:0012476 "ICD10CM:G11.4" MONDO:0012476 "SCTID:763377006" MONDO:0012476 "MESH:C563677" MONDO:0012476 "DOID:0110781" @@ -12463,7 +12172,6 @@ MONDO:0011222 "OMIM:602429" MONDO:0011222 "MESH:C566551" MONDO:0011222 "UMLS:C1865427" MONDO:0014445 "DOID:0110139" -MONDO:0014445 "ICD10:Q87.89" MONDO:0014445 "UMLS:C3714980" MONDO:0014445 "OMIM:615994" MONDO:0030925 "OMIM:619176" @@ -12472,10 +12180,9 @@ MONDO:0044276 "OMIM:612271" MONDO:0001551 "DOID:12566" MONDO:0001551 "ICD9:616.50" MONDO:0001551 "ICD9:616.51" -MONDO:0001551 "ICD10:N77.0" -MONDO:0001551 "ICD10:N76.6" MONDO:0001551 "UMLS:C0156339" MONDO:0001551 "SCTID:68640004" +MONDO:0001551 "ICD10CM:N76.6" MONDO:0003751 "UMLS:C0279014" MONDO:0003751 "DOID:6053" MONDO:0003751 "NCIT:C7928" @@ -12486,12 +12193,12 @@ MONDO:0007493 "SCTID:719276005" MONDO:0007493 "Orphanet:98805" MONDO:0007493 "DOID:0090041" MONDO:0007493 "OMIM:128101" -MONDO:0007493 "ICD10:G24.1" +MONDO:0007493 "ICD10CM:G24.1" MONDO:0008824 "SCTID:401138005" MONDO:0008824 "ICD9:754.89" +MONDO:0008824 "ICD10CM:Q87.8" MONDO:0008824 "DOID:0111375" MONDO:0008824 "OMIMPS:208150" -MONDO:0008824 "ICD10:Q87.8" MONDO:0008824 "MESH:C536647" MONDO:0008824 "NCIT:C129071" MONDO:0008824 "OMIM:300073" @@ -12501,8 +12208,8 @@ MONDO:0012663 "OMIM:611384" MONDO:0019444 "SCTID:709018004" MONDO:0019444 "MedDRA:10044608" MONDO:0019444 "MESH:D014235" -MONDO:0019444 "ICD10:B75" MONDO:0019444 "GARD:0005250" +MONDO:0019444 "ICD10CM:B75" MONDO:0019444 "Orphanet:863" HP:0100306 "UMLS:C4022155" MONDO:0030360 "OMIM:619484" @@ -12510,7 +12217,7 @@ MONDO:0018247 "OMIM:300475" MONDO:0018247 "GARD:0012472" MONDO:0018247 "Orphanet:369942" MONDO:0018247 "UMLS:CN180200" -MONDO:0018247 "ICD10:Q87.8" +MONDO:0018247 "ICD10CM:Q87.8" MONDO:0024470 "UMLS:C0852519" MONDO:0024470 "NCIT:C8592" MONDO:0024470 "SCTID:722690001" @@ -12531,8 +12238,8 @@ MONDO:0017032 "Orphanet:264930" MONDO:0004153 "DOID:7231" MONDO:0004153 "UMLS:C1377605" MONDO:0004153 "NCIT:C6208" +MONDO:0015720 "ICD10CM:D66" MONDO:0015720 "Orphanet:169805" -MONDO:0015720 "ICD10:D66" MONDO:0015720 "UMLS:CN200231" MONDO:0013091 "OMIM:613027" MONDO:0013091 "UMLS:C2751643" @@ -12541,39 +12248,35 @@ MONDO:0013091 "MESH:C567809" MONDO:0040698 "UMLS:C1290159" MONDO:0040698 "SCTID:109298000" MONDO:0020770 "OMIM:618387" +MONDO:0010902 "ICD10CM:Q77.7" MONDO:0010902 "MESH:C563472" MONDO:0010902 "Orphanet:163662" -MONDO:0010902 "ICD10:Q77.7" MONDO:0010902 "SCTID:718764004" MONDO:0010902 "UMLS:C1833603" MONDO:0010902 "OMIM:600561" MONDO:0019631 "OMIM:221900" MONDO:0019631 "MESH:D054514" MONDO:0019631 "OMIM:611308" +MONDO:0019631 "ICD10CM:Q14.0" MONDO:0019631 "OMIMPS:221900" MONDO:0019631 "SCTID:314270008" -MONDO:0019631 "ICD10:Q14.0" MONDO:0019631 "DOID:0060282" MONDO:0019631 "Orphanet:91495" +MONDO:0008369 "ICD10CM:N25.8" MONDO:0008369 "OMIM:179830" -MONDO:0008369 "ICD10:N25.8" MONDO:0008369 "SCTID:24790002" MONDO:0008369 "Orphanet:47159" MONDO:0008369 "ICD9:588.89" MONDO:0008369 "OMIM:604278" MONDO:0008369 "MedDRA:10037080" +MONDO:0018434 "ICD10CM:C92.0" MONDO:0018434 "Orphanet:402017" -MONDO:0018434 "ICD10:C92.0" MONDO:0005555 "SCTID:68158006" MONDO:0005555 "ICD9:367.51" MONDO:0005555 "EFO:0005758" -MONDO:0005555 "SCTID_2010_1_31:232141000" MONDO:0005555 "UMLS:C0235238" MONDO:0005555 "Wikipedia:Cycloplegia" MONDO:0005555 "DOID:10033" -MONDO:0005555 "SCTID_2010_1_31:255335004" -MONDO:0005555 "ICD10:H52.52" -MONDO:0005555 "SCTID_2010_1_31:68158006" MONDO:0007755 "UMLS:C1840429" MONDO:0007755 "OMIM:144120" MONDO:0007755 "MESH:C564173" @@ -12583,7 +12286,6 @@ MONDO:0009311 "MESH:C565530" MONDO:0014868 "DOID:0080417" MONDO:0014868 "OMIM:617020" MONDO:0014868 "UMLS:C4310762" -MONDO:0008931 "ICD10:Q78.4" MONDO:0008931 "UMLS:C1859309" MONDO:0008931 "GARD:0005084" MONDO:0008931 "MESH:C538150" @@ -12591,24 +12293,23 @@ MONDO:0008931 "SCTID:720633009" MONDO:0008931 "Orphanet:3258" MONDO:0008931 "OMIM:212780" MONDO:0008931 "DOID:0090015" +MONDO:0008931 "ICD10CM:Q78.4" HP:0000243 "UMLS:C4280666" HP:0000243 "MSH:D003398" HP:0000243 "UMLS:C4280665" HP:0000243 "SNOMEDCT_US:28740008" HP:0000243 "UMLS:C0265535" HP:0000633 "UMLS:C0235857" -MONDO:0016302 "ICD10:Q20.3" +MONDO:0016302 "ICD10CM:Q20.3" MONDO:0016302 "Orphanet:216718" MONDO:0001143 "UMLS:C0152221" -MONDO:0001143 "ICD10:H49" MONDO:0001143 "HP:0031775" MONDO:0001143 "DOID:10863" MONDO:0001143 "SCTID:400942002" MONDO:0001143 "ICD9:378.5" -MONDO:0001143 "ICD10:H49.9" MONDO:0001143 "ICD9:378.50" MONDO:0017539 "Orphanet:295179" -MONDO:0017539 "ICD10:Q69.2" +MONDO:0017539 "ICD10CM:Q69.2" MONDO:0021141 "Orphanet:409941" MONDO:0006629 "EFO:1000786" MONDO:0006629 "NCIT:C34876" @@ -12616,11 +12317,10 @@ MONDO:0006629 "MESH:D015207" MONDO:0006629 "UMLS:C0029410" MONDO:0016476 "OMIM:130650" MONDO:0016476 "UMLS:CN201471" -MONDO:0016476 "ICD10:Q87.3" +MONDO:0016476 "ICD10CM:Q87.3" MONDO:0016476 "Orphanet:231120" MONDO:0012079 "UMLS:C1837697" MONDO:0012079 "OMIM:608631" -MONDO:0006996 "ICD10:E05.5" MONDO:0006996 "HP:0011782" MONDO:0006996 "ICD9:242.81" MONDO:0006996 "MedDRA:10043705" @@ -12631,7 +12331,6 @@ MONDO:0006996 "NCIT:C112836" MONDO:0006996 "MESH:D013958" MONDO:0006996 "SCTID:29028009" MONDO:0006996 "DOID:12837" -MONDO:0019852 "ICD10:E28.3" MONDO:0019852 "OMIM:613291" MONDO:0019852 "OMIMPS:311360" MONDO:0019852 "OMIM:300511" @@ -12646,16 +12345,15 @@ MONDO:0019852 "OMIM:612964" MONDO:0019852 "OMIM:300604" MONDO:0019852 "OMIM:611548" MONDO:0019852 "OMIM:311360" +MONDO:0019852 "ICD10CM:E28.3" CL:1001588 "CALOHA:TS-1274" MONDO:0012255 "OMIM:609334" MONDO:0012255 "MESH:C563734" MONDO:0012255 "UMLS:C1836305" MONDO:0011192 "MESH:C566580" -MONDO:0011192 "ICD10:H90.3" MONDO:0011192 "DOID:0110473" MONDO:0011192 "OMIM:602092" MONDO:0011192 "UMLS:C1865870" -MONDO:0001708 "ICD10:D86.0" MONDO:0001708 "DOID:13406" MONDO:0001708 "ICD9:517.8" MONDO:0001708 "NCIT:C34997" @@ -12663,7 +12361,7 @@ MONDO:0001708 "MESH:D017565" MONDO:0001708 "UMLS:C0036205" MONDO:0001708 "SCTID:24369008" MONDO:0020152 "Orphanet:98561" -MONDO:0001330 "ICD10:H52.4" +MONDO:0001330 "ICD10CM:H52.4" MONDO:0001330 "UMLS:C0033075" MONDO:0001330 "MESH:D011305" MONDO:0001330 "ICD9:367.4" @@ -12673,16 +12371,15 @@ MONDO:0009818 "SCTID:254122007" MONDO:0009818 "DOID:0110941" MONDO:0009818 "MESH:C536058" MONDO:0009818 "NCIT:C118438" -MONDO:0009818 "ICD10:Q78.2" MONDO:0009818 "GARD:0004154" MONDO:0009818 "OMIM:259730" MONDO:0009818 "OMIM:267200" +MONDO:0009818 "ICD10CM:Q78.2" MONDO:0009818 "ICD9:588.89" MONDO:0009818 "Orphanet:2785" MONDO:0004847 "NCIT:C35012" MONDO:0004847 "ICD9:366.1" MONDO:0004847 "DOID:9669" -MONDO:0004847 "ICD10:H25" MONDO:0004847 "SCTID:39450006" MONDO:0004847 "ICD9:366.10" MONDO:0009020 "GARD:0006953" @@ -12692,9 +12389,9 @@ MONDO:0009020 "OMIM:217800" MONDO:0009020 "DOID:2565" MONDO:0009020 "MESH:D003317" MONDO:0009020 "MedDRA:10025406" -MONDO:0009020 "ICD10:H18.55" +MONDO:0009020 "ICD10CM:H18.55" MONDO:0009020 "Orphanet:98969" -MONDO:0009020 "ICD10:H18.5" +MONDO:0009020 "ICD10CM:H18.5" MONDO:0009020 "MESH:C537834" MONDO:0009020 "UMLS:C0024439" MONDO:0009020 "NCIT:C34793" @@ -12706,22 +12403,21 @@ MONDO:0000949 "UMLS:C0155160" MONDO:0000949 "DOID:10139" MONDO:0000949 "SCTID:40787005" MONDO:0000949 "ICD9:372.50" -MONDO:0000949 "ICD10:H11.10" MONDO:0008282 "OMIM:175450" MONDO:0008282 "MESH:C566776" MONDO:0008282 "UMLS:C1868005" MONDO:0007085 "GARD:0000607" MONDO:0007085 "Orphanet:1008" -MONDO:0007085 "ICD10:Q87.8" MONDO:0007085 "OMIM:104130" MONDO:0007085 "UMLS:C1863090" MONDO:0007085 "MESH:C537057" +MONDO:0007085 "ICD10CM:Q87.8" MONDO:0007085 "SCTID:720980004" MONDO:0018026 "GARD:0005151" MONDO:0018026 "SCTID:726363000" +MONDO:0018026 "ICD10CM:Q92.7" MONDO:0018026 "MESH:D057891" MONDO:0018026 "UMLS:C0795884" -MONDO:0018026 "ICD10:Q92.7" MONDO:0018026 "Orphanet:3305" CL:0000019 "CALOHA:TS-0949" CL:0000019 "BTO:0002046" @@ -12743,10 +12439,10 @@ MONDO:0016710 "NCIT:C5407" MONDO:0016710 "UMLS:C1334970" MONDO:0016710 "Orphanet:251858" MONDO:0016710 "ICDO:9471/3" -MONDO:0016710 "ICD10:C71.6" +MONDO:0016710 "ICD10CM:C71.6" MONDO:0016710 "UMLS:CN201957" MONDO:0016710 "OMIM:155255" -MONDO:0020373 "ICD10:Q12.0" +MONDO:0020373 "ICD10CM:Q12.0" MONDO:0020373 "Orphanet:98988" MONDO:0020373 "UMLS:C1855179" MONDO:0020373 "OMIM:601202" @@ -12760,16 +12456,15 @@ MONDO:0010505 "SCTID:722002002" MONDO:0010505 "MESH:C536638" MONDO:0010505 "Orphanet:3041" MONDO:0010505 "GARD:0000257" -MONDO:0010505 "ICD10:Q87.8" MONDO:0010505 "OMIM:300977" +MONDO:0010505 "ICD10CM:Q87.8" MONDO:0001815 "DOID:13839" -MONDO:0001815 "ICD10:G25.9" +MONDO:0001815 "ICD10CM:G20-G26" MONDO:0001815 "UMLS:C0477355" -MONDO:0001815 "ICD10:G20-G26" MONDO:0001815 "ICD9:333.90" MONDO:0016068 "MESH:C562524" MONDO:0016068 "DOID:0060465" -MONDO:0016068 "ICD10:Q77.7" +MONDO:0016068 "ICD10CM:Q77.7" MONDO:0016068 "OMIM:228520" MONDO:0016068 "OMIM:614524" MONDO:0016068 "Orphanet:2021" @@ -12779,33 +12474,31 @@ MONDO:0016068 "SCTID:17144009" HP:0006530 "SNOMEDCT_US:233703007" HP:0006530 "MSH:D017563" HP:0006530 "UMLS:C0206062" -MONDO:0007272 "ICD10:E50.8" MONDO:0007272 "SCTID:726079008" MONDO:0007272 "OMIM:115300" MONDO:0007272 "MESH:C567296" MONDO:0007272 "OMIM:277350" MONDO:0007272 "Orphanet:199285" +MONDO:0007272 "ICD10CM:E50.8" MONDO:0005960 "NCIT:C3369" MONDO:0005960 "ICD9:502" -MONDO:0005960 "ICD10:J62" MONDO:0005960 "DOID:10325" MONDO:0005960 "GARD:0007647" -MONDO:0005960 "ICD10:J62.8" MONDO:0005960 "UMLS:C0037116" MONDO:0005960 "SCTID:805002" MONDO:0005960 "EFO:0007485" MONDO:0005960 "MESH:D012829" -MONDO:0011886 "ICD10:G24.1" MONDO:0011886 "SCTID:719278006" MONDO:0011886 "OMIM:607671" MONDO:0011886 "Orphanet:98807" +MONDO:0011886 "ICD10CM:G24.1" MONDO:0011886 "DOID:0090037" MONDO:0011886 "MESH:C564354" MONDO:0011946 "Orphanet:66637" MONDO:0011946 "OMIM:608022" -MONDO:0011946 "ICD10:Q78.8" MONDO:0011946 "MESH:C564305" MONDO:0011946 "SCTID:721094006" +MONDO:0011946 "ICD10CM:Q78.8" MONDO:0011946 "UMLS:C1842691" MONDO:0100226 "MESH:D013009" MONDO:0100226 "OMIM:613938" @@ -12814,23 +12507,23 @@ MONDO:0011066 "Orphanet:99955" MONDO:0011066 "GARD:0001253" MONDO:0011066 "SCTID:715803003" MONDO:0011066 "DOID:0110191" -MONDO:0011066 "ICD10:G60.0" +MONDO:0011066 "ICD10CM:G60.0" MONDO:0011066 "OMIM:601382" MONDO:0011066 "MESH:C535420" MONDO:0012140 "OMIM:608852" -MONDO:0002133 "ICD10:I09.2" MONDO:0002133 "SCTID:78069008" MONDO:0002133 "UMLS:C0155561" MONDO:0002133 "DOID:1869" +MONDO:0002133 "ICD10CM:I09.2" MONDO:0002133 "ICD9:393" MONDO:0033665 "OMIM:619081" +MONDO:0016255 "ICD10CM:C54.1" +MONDO:0016255 "ICD10CM:C54.2" MONDO:0016255 "UMLS:C1519858" -MONDO:0016255 "ICD10:C54.1" -MONDO:0016255 "ICD10:C54.8" -MONDO:0016255 "ICD10:C54.0" +MONDO:0016255 "ICD10CM:C54.3" +MONDO:0016255 "ICD10CM:C54.8" MONDO:0016255 "NCIT:C40181" -MONDO:0016255 "ICD10:C54.2" -MONDO:0016255 "ICD10:C54.3" +MONDO:0016255 "ICD10CM:C54.0" MONDO:0016255 "Orphanet:213589" MONDO:0014943 "UMLS:C4310690" MONDO:0014943 "DOID:0080337" @@ -12847,12 +12540,12 @@ MONDO:0017338 "DOID:0070330" MONDO:0008219 "MedDRA:10052802" MONDO:0008219 "OMIM:169610" MONDO:0008219 "NCIT:C34910" -MONDO:0008219 "GARD:0007355" +MONDO:0008219 "ICD10CM:L10.0" MONDO:0008219 "DOID:0060851" +MONDO:0008219 "GARD:0007355" MONDO:0008219 "EFO:0004719" MONDO:0008219 "Orphanet:704" MONDO:0008219 "SCTID:49420001" -MONDO:0008219 "ICD10:L10.0" MONDO:0008219 "GARD:0004270" MONDO:0008219 "MESH:C536645" MONDO:0008219 "UMLS:C0030809" @@ -12870,18 +12563,19 @@ MONDO:0019609 "OMIM:614862" MONDO:0019609 "OMIM:614883" MONDO:0019609 "GARD:0007917" MONDO:0019609 "MESH:D015211" -MONDO:0019609 "ICD10:Q87.8" MONDO:0019609 "OMIM:614870" MONDO:0019609 "OMIM:214110" -MONDO:0019609 "ICD10:E71.510" MONDO:0019609 "NCIT:C85239" +MONDO:0019609 "ICD10CM:Q87.8" MONDO:0019609 "UMLS:C0043459" MONDO:0019609 "OMIM:614859" MONDO:0019609 "OMIM:214100" MONDO:0019609 "DOID:905" +MONDO:0019609 "OMIM:617370" MONDO:0019609 "OMIM:614876" MONDO:0019609 "OMIM:614882" MONDO:0019609 "SCTID:88469006" +MONDO:0019609 "ICD10CM:E71.510" MONDO:0019609 "OMIM:614872" MONDO:0019609 "OMIM:614866" MONDO:0019609 "OMIM:614887" @@ -12891,7 +12585,7 @@ MONDO:0043735 "SCTID:109333005" MONDO:0043735 "MESH:D010025" MONDO:0043735 "NCIT:C63707" MONDO:0011381 "OMIM:603902" -MONDO:0011381 "ICD10:D56.1" +MONDO:0011381 "ICD10CM:D56.1" MONDO:0011381 "UMLS:C1858990" MONDO:0011381 "MESH:C565834" MONDO:0011381 "Orphanet:231226" @@ -12908,16 +12602,16 @@ MONDO:0003574 "UMLS:C0349576" MONDO:0003574 "DOID:5665" MONDO:0003574 "NCIT:C4653" MONDO:0044268 "OMIM:600952" +MONDO:0017696 "ICD10CM:E74.0" MONDO:0017696 "UMLS:CN203595" MONDO:0017696 "OMIM:232500" -MONDO:0017696 "ICD10:E74.0" MONDO:0017696 "Orphanet:308638" MONDO:0100092 "OMIM:618364" MONDO:0014647 "UMLS:C4225320" MONDO:0014647 "Orphanet:448010" MONDO:0014647 "DOID:0080419" MONDO:0014647 "OMIM:616457" -MONDO:0014647 "ICD10:E77.8" +MONDO:0014647 "ICD10CM:E77.8" NCBITaxon:6236 "GC_ID:1" MONDO:0015525 "Orphanet:157808" MONDO:0015525 "OMIM:609143" @@ -12925,9 +12619,9 @@ MONDO:0015525 "GARD:0009722" MONDO:0015525 "MESH:C535762" MONDO:0019267 "Orphanet:79312" MONDO:0019267 "OMIM:251000" -MONDO:0019267 "ICD10:E71.1" MONDO:0019267 "SCTID:237946002" MONDO:0019267 "UMLS:CN205894" +MONDO:0019267 "ICD10CM:E71.1" HP:0002110 "SNOMEDCT_US:12295008" HP:0002110 "UMLS:C0006267" HP:0002110 "MSH:D001987" @@ -12940,9 +12634,9 @@ MONDO:0000234 "DOID:0050051" MONDO:0006137 "UMLS:C2986622" MONDO:0006137 "NCIT:C94676" MONDO:0006137 "EFO:1000166" +MONDO:0017704 "ICD10CM:G40.1" MONDO:0017704 "GARD:0002173" MONDO:0017704 "Orphanet:309" -MONDO:0017704 "ICD10:G40.1" MONDO:0017704 "UMLS:CN227178" MONDO:0012689 "OMIM:611548" MONDO:0012689 "MESH:C566921" @@ -12952,18 +12646,17 @@ MONDO:0018278 "OMIM:608840" MONDO:0018278 "OMIM:615351" MONDO:0018278 "OMIM:613156" MONDO:0018278 "OMIM:613155" -MONDO:0018278 "ICD10:G71.2" +MONDO:0018278 "ICD10CM:G71.2" MONDO:0018278 "OMIM:606612" MONDO:0016966 "Orphanet:262959" MONDO:0016966 "GARD:0005316" MONDO:0016966 "MESH:C538042" MONDO:0016966 "UMLS:CN036363" -MONDO:0015712 "ICD10:Q92.3" MONDO:0015712 "Orphanet:1695" MONDO:0017191 "Orphanet:276624" +MONDO:0017191 "ICD10CM:C74.1" +MONDO:0017191 "ICD10CM:D35.0" MONDO:0017191 "UMLS:CN202631" -MONDO:0017191 "ICD10:D35.0" -MONDO:0017191 "ICD10:C74.1" MONDO:0002805 "DOID:3896" MONDO:0002805 "SCTID:253020008" MONDO:0002805 "NCIT:C7563" @@ -12979,18 +12672,17 @@ MONDO:0003836 "DOID:6274" MONDO:0003836 "UMLS:C1334627" MONDO:0003836 "NCIT:C5965" MONDO:0005125 "ICD9:030.3" -MONDO:0005125 "ICD10:A30.3" MONDO:0005125 "DOID:1023" MONDO:0005125 "EFO:0001055" MONDO:0005125 "UMLS:C0023346" MONDO:0005125 "UMLS:C3251797" MONDO:0005125 "MESH:D015439" MONDO:0005125 "SCTID:400154003" +MONDO:0005125 "ICD10CM:A30.3" MONDO:0043139 "GARD:0003633" MONDO:0043139 "UMLS:C2931530" MONDO:0043139 "MESH:C537545" MONDO:0007578 "OMIM:133260" -MONDO:0006950 "ICD10:H35.06" MONDO:0006950 "UMLS:C0152026" MONDO:0006950 "DOID:11563" MONDO:0006950 "MedDRA:10038905" @@ -13004,29 +12696,35 @@ HP:0009815 "UMLS:C0239399" MONDO:0017570 "NCIT:C27874" MONDO:0017570 "OMIM:612840" MONDO:0017570 "OMIM:266265" +MONDO:0017570 "ICD10CM:D84.8" MONDO:0017570 "UMLS:C0272187" -MONDO:0017570 "ICD10:D84.8" MONDO:0017570 "DOID:6612" MONDO:0017570 "OMIM:116920" MONDO:0017570 "GARD:0009544" MONDO:0017570 "UMLS:C0398738" MONDO:0017570 "SCTID:77358003" MONDO:0017570 "Orphanet:2968" -MONDO:0005093 "DOID:37" +MONDO:0005093 "SCTID:239001006" +MONDO:0005093 "ICD9:709.8" +MONDO:0005093 "ICD10CM:L55-L59" +MONDO:0005093 "ICD10CM:L80-L99" MONDO:0005093 "ICD9:702" -MONDO:0005093 "SCTID:95320005" +MONDO:0005093 "ICD10CM:L49-L54" +MONDO:0005093 "ICD10CM:L10-L14" MONDO:0005093 "EFO:0000701" -MONDO:0005093 "SCTID:239001006" +MONDO:0005093 "SCTID:95320005" +MONDO:0005093 "ICD10CM:L40-L45" +MONDO:0005093 "MESH:D012871" +MONDO:0005093 "ICD10CM:L00-L99" MONDO:0005093 "NCIT:C3371" -MONDO:0005093 "ICD9:702.8" MONDO:0005093 "MESH:D012873" -MONDO:0005093 "ICD9:709.8" -MONDO:0005093 "MESH:D012871" +MONDO:0005093 "DOID:37" +MONDO:0005093 "ICD9:702.8" MONDO:0000624 "UMLS:C0744514" MONDO:0000624 "DOID:0060086" MONDO:0000624 "NCIT:C4934" MONDO:0018499 "Orphanet:423712" -MONDO:0018499 "ICD10:Q24.8" +MONDO:0018499 "ICD10CM:Q24.8" MONDO:0009684 "MESH:C564982" MONDO:0009684 "UMLS:C1850827" MONDO:0009684 "OMIM:254120" @@ -13051,7 +12749,7 @@ NCBITaxon:11135 "GC_ID:1" MONDO:0013176 "UMLS:C2750787" MONDO:0013176 "OMIM:613195" MONDO:0013176 "Orphanet:363992" -MONDO:0013176 "ICD10:Q93.5" +MONDO:0013176 "ICD10CM:Q93.5" MONDO:0013176 "MESH:C567710" MONDO:0014122 "OMIM:615293" MONDO:0014122 "Orphanet:2591" @@ -13059,6 +12757,7 @@ MONDO:0014122 "UMLS:C3809084" CL:0002292 "FMA:84186" MONDO:0030456 "OMIM:619566" MONDO:0000592 "SCTID:10720004" +MONDO:0000592 "ICD10CM:F80-F89" MONDO:0000592 "ICD9:315.8" MONDO:0000592 "DOID:0060038" MONDO:0024566 "OMIM:614418" @@ -13077,7 +12776,6 @@ MONDO:0009871 "UMLS:C1849811" MONDO:0009871 "OMIM:261990" MONDO:0009871 "MESH:C537398" MONDO:0006881 "EFO:1001076" -MONDO:0006881 "ICD10:H05.01" MONDO:0006881 "MESH:D054517" MONDO:0006881 "NCIT:C99000" MONDO:0006881 "SCTID:194005002" @@ -13092,13 +12790,13 @@ MONDO:0008501 "NCIT:C3391" MONDO:0008501 "GARD:0007706" MONDO:0008501 "MedDRA:10057653" MONDO:0008501 "MedDRA:10042265" +MONDO:0008501 "ICD10CM:Q85.8" MONDO:0008501 "UMLS:C0038505" MONDO:0008501 "DOID:0111563" MONDO:0008501 "ICD9:759.6" MONDO:0008501 "MESH:D013341" MONDO:0008501 "SCTID:19886006" MONDO:0008501 "OMIM:185300" -MONDO:0008501 "ICD10:Q85.8" MONDO:0021908 "GARD:0000751" MONDO:0010289 "OMIM:300271" MONDO:0010289 "MESH:C564547" @@ -13107,7 +12805,6 @@ MONDO:0010289 "UMLS:C1846038" MONDO:0025598 "ICD9:483.1" MONDO:0025598 "DOID:0040083" MONDO:0025598 "UMLS:C0339959" -MONDO:0025598 "ICD10:J16.0" MONDO:0025598 "MESH:D061387" MONDO:0025598 "SCTID:233609002" MONDO:0023164 "NCIT:C128405" @@ -13117,8 +12814,8 @@ MONDO:0011231 "UMLS:C1865342" MONDO:0011231 "DOID:0111310" MONDO:0011231 "OMIM:602477" MONDO:0011231 "MESH:C566541" +MONDO:0016420 "ICD10CM:H35.5" MONDO:0016420 "UMLS:CN226924" -MONDO:0016420 "ICD10:H35.5" MONDO:0016420 "Orphanet:227786" MONDO:0012468 "MESH:C537610" MONDO:0012468 "OMIM:610319" @@ -13127,8 +12824,8 @@ MONDO:0012468 "UMLS:C1853197" MONDO:0045029 "SCTID:59258008" HP:0009145 "UMLS:C4021520" MONDO:0009942 "GARD:0004610" -MONDO:0009942 "ICD10:Q78.8" MONDO:0009942 "OMIM:265880" +MONDO:0009942 "ICD10CM:Q78.8" MONDO:0009942 "UMLS:C1849523" MONDO:0009942 "Orphanet:3003" MONDO:0009942 "SCTID:719258003" @@ -13162,9 +12859,9 @@ MONDO:0020575 "UMLS:C0344432" MONDO:0020575 "NCIT:C111648" MONDO:0020575 "SCTID:251159007" MONDO:0020575 "HP:0031677" -MONDO:0017861 "ICD10:T52.8" MONDO:0017861 "Orphanet:31826" MONDO:0017861 "ICD9:982.8" +MONDO:0017861 "ICD10CM:T52.8" MONDO:0017861 "SCTID:426692001" MONDO:0016099 "Orphanet:206572" MONDO:0019046 "SCTID:192781003" @@ -13172,7 +12869,6 @@ MONDO:0019046 "Orphanet:68356" MONDO:0019046 "UMLS:CN228461" MONDO:0019046 "DOID:0060786" MONDO:0019046 "DOID:0050987" -MONDO:0019046 "ICD10:E75.2" MONDO:0019046 "NCIT:C61253" MONDO:0019046 "ICD9:330.0" MONDO:0019046 "OMIMPS:312080" @@ -13180,27 +12876,27 @@ MONDO:0019046 "UMLS:C0023520" MONDO:0019046 "DOID:10579" MONDO:0019046 "GARD:0006895" MONDO:0019046 "MedDRA:10024381" +MONDO:0019046 "ICD10CM:E75.2" NCBITaxon:84642 "GC_ID:11" MONDO:0017002 "Orphanet:263723" -MONDO:0018560 "ICD10:Q64.7" +MONDO:0018560 "ICD10CM:Q64.7" MONDO:0018560 "UMLS:CN242188" MONDO:0018560 "SCTID:253907008" MONDO:0018560 "Orphanet:435372" +MONDO:0019128 "Orphanet:73217" +MONDO:0019128 "MESH:C537371" +MONDO:0019128 "SCTID:253828000" MONDO:0001395 "DOID:11871" MONDO:0001395 "UMLS:C0155076" MONDO:0001395 "ICD9:370.22" -MONDO:0001395 "ICD10:H16.11" MONDO:0001395 "SCTID:2853006" -MONDO:0019128 "Orphanet:73217" -MONDO:0019128 "MESH:C537371" -MONDO:0019128 "SCTID:253828000" MONDO:0007298 "UMLS:C1861732" MONDO:0007298 "SCTID:715825009" MONDO:0007298 "OMIM:117360" MONDO:0007298 "UMLS:C4274987" -MONDO:0007298 "ICD10:G11.0" MONDO:0007298 "DOID:0050978" MONDO:0007298 "Orphanet:208513" +MONDO:0007298 "ICD10CM:G11.0" MONDO:0007298 "GARD:0010480" MONDO:0007298 "MESH:C537206" MONDO:0012991 "OMIM:612713" @@ -13217,22 +12913,20 @@ MONDO:0021655 "ICD9:701.8" MONDO:0004771 "ICD9:364.21" MONDO:0004771 "SCTID:11226001" MONDO:0004771 "DOID:9375" -MONDO:0004771 "ICD10:H20.81" MONDO:0004771 "UMLS:C0016782" MONDO:0001638 "SCTID:191156009" MONDO:0001638 "DOID:13120" MONDO:0001638 "UMLS:C0154290" -MONDO:0001638 "ICD10:D53.0" MONDO:0001638 "ICD9:281.4" +MONDO:0001638 "ICD10CM:D53.0" HP:0007550 "UMLS:C4021831" MONDO:0013800 "Orphanet:300179" MONDO:0013800 "OMIM:614557" -MONDO:0013800 "ICD10:Q79.6" +MONDO:0013800 "ICD10CM:Q79.6" MONDO:0013800 "UMLS:C3281160" MONDO:0013800 "SCTID:720859009" MONDO:0008378 "GARD:0010382" MONDO:0008378 "DOID:0110387" -MONDO:0008378 "ICD10:H35.5" MONDO:0008378 "OMIM:180104" MONDO:0008378 "MESH:C566716" MONDO:0008378 "UMLS:C1867300" @@ -13241,7 +12935,7 @@ MONDO:0014974 "OMIM:617223" MONDO:0014974 "UMLS:C4310663" MONDO:0030861 "OMIM:619131" MONDO:0018443 "UMLS:CN226185" -MONDO:0018443 "ICD10:Q87.8" +MONDO:0018443 "ICD10CM:Q87.8" MONDO:0018443 "Orphanet:404451" MONDO:0003284 "UMLS:C1334659" MONDO:0003284 "NCIT:C6598" @@ -13249,7 +12943,6 @@ MONDO:0003284 "DOID:5123" MONDO:0000898 "UMLS:C0474836" MONDO:0000898 "DOID:0080189" MONDO:0004615 "DOID:8601" -MONDO:0004615 "ICD10:C03.0" MONDO:0004615 "ICD9:143.0" MONDO:0004615 "SCTID:363383000" MONDO:0004615 "UMLS:C0153365" @@ -13257,23 +12950,22 @@ HP:0100790 "MSH:D006547" HP:0100790 "UMLS:C0019270" HP:0100790 "SNOMEDCT_US:414403008" HP:0100790 "SNOMEDCT_US:52515009" +MONDO:0015348 "ICD10CM:E75.2" MONDO:0015348 "Orphanet:139444" -MONDO:0015348 "ICD10:E75.2" MONDO:0000626 "DOID:0060088" MONDO:0017548 "Orphanet:295205" -MONDO:0017548 "ICD10:Q74.0" +MONDO:0017548 "ICD10CM:Q74.0" MONDO:0019475 "OMIM:618398" +MONDO:0019475 "ICD10CM:C86.3" MONDO:0019475 "ICDO:9708/3" MONDO:0019475 "ONCOTREE:SPTCL" MONDO:0019475 "MESH:C537503" -MONDO:0019475 "ICD10:C83.6" MONDO:0019475 "EFO:1000552" MONDO:0019475 "ICD9:202.70" MONDO:0019475 "SCTID:404133000" MONDO:0019475 "UMLS:C0522624" MONDO:0019475 "NCIT:C6918" MONDO:0019475 "GARD:0010193" -MONDO:0019475 "ICD10:C86.3" MONDO:0019475 "Orphanet:86884" MONDO:0015231 "GARD:0005893" MONDO:0015231 "OMIMPS:601678" @@ -13281,7 +12973,6 @@ MONDO:0015231 "Orphanet:112" MONDO:0015231 "OMIM:601198" MONDO:0015231 "OMIM:613090" MONDO:0015231 "ICD9:255.13" -MONDO:0015231 "ICD10:E26.8" MONDO:0015231 "OMIM:601678" MONDO:0015231 "MedDRA:10050839" MONDO:0015231 "UMLS:C0004775" @@ -13290,10 +12981,10 @@ MONDO:0015231 "MESH:D001477" MONDO:0015231 "UMLS:C0085570" MONDO:0015231 "NCIT:C34412" MONDO:0015231 "DOID:445" -MONDO:0015231 "ICD10:E26.81" MONDO:0015231 "OMIM:602522" MONDO:0015231 "SCTID:707742001" MONDO:0015231 "OMIM:300971" +MONDO:0015231 "ICD10CM:E26.8" MONDO:0015231 "OMIM:241200" MONDO:0017431 "Orphanet:294953" MONDO:0006169 "NCIT:C35423" @@ -13306,15 +12997,15 @@ MONDO:0005399 "MESH:D054556" MONDO:0005399 "NCIT:C99537" MONDO:0005399 "EFO:0004286" MONDO:0002272 "UMLS:C0154254" -MONDO:0002272 "ICD10:D89.0" MONDO:0002272 "NCIT:C35885" +MONDO:0002272 "ICD10CM:D89.0" MONDO:0002272 "SCTID:190808009" MONDO:0002272 "DOID:2344" MONDO:0002272 "ICD9:273.0" MONDO:0011010 "UMLS:C1832661" MONDO:0011010 "OMIM:601186" -MONDO:0011010 "ICD10:Q11.2" MONDO:0011010 "SCTID:722458000" +MONDO:0011010 "ICD10CM:Q11.2" MONDO:0011010 "DOID:0050819" MONDO:0011010 "OMIM:615524" MONDO:0011010 "GARD:0000713" @@ -13338,27 +13029,26 @@ MONDO:0009545 "UMLS:C2931597" MONDO:0008775 "MESH:C565959" MONDO:0008775 "OMIM:204800" MONDO:0008775 "UMLS:C1859816" -MONDO:0009721 "ICD10:Q87.8" MONDO:0009721 "MESH:C538342" MONDO:0009721 "UMLS:C1850626" MONDO:0009721 "Orphanet:2663" MONDO:0009721 "GARD:0003929" MONDO:0009721 "OMIM:255990" +MONDO:0009721 "ICD10CM:Q87.8" MONDO:0009721 "SCTID:716170005" MONDO:0016789 "UMLS:CN226999" -MONDO:0016789 "ICD10:E74.4" +MONDO:0016789 "ICD10CM:E74.4" MONDO:0016789 "Orphanet:254746" MONDO:0000509 "OMIM:614202" MONDO:0000509 "DOID:0050889" MONDO:0017735 "MedDRA:10010371" MONDO:0017735 "SCTID:18546004" MONDO:0017735 "Orphanet:3093" -MONDO:0017735 "ICD10:Q23.0" MONDO:0017735 "ICD9:746.3" MONDO:0016672 "OMIM:142470" MONDO:0016672 "OMIM:141749" +MONDO:0016672 "ICD10CM:D57.2" MONDO:0016672 "OMIM:613566" -MONDO:0016672 "ICD10:D57.2" MONDO:0016672 "UMLS:CN201912" MONDO:0016672 "HGNC:5153" MONDO:0016672 "HGNC:3627" @@ -13368,7 +13058,6 @@ MONDO:0013794 "Orphanet:71493" MONDO:0013794 "Orphanet:3318" MONDO:0013794 "OMIM:614521" MONDO:0001206 "ICD9:365.83" -MONDO:0001206 "ICD10:H40.83" MONDO:0001206 "DOID:11149" MONDO:0004387 "DOID:7880" MONDO:0004387 "UMLS:C0024167" @@ -13386,7 +13075,6 @@ MONDO:0006660 "MESH:D001183" MONDO:0006660 "ICD9:995.21" MONDO:0006660 "ICD9:708.8" MONDO:0006660 "DOID:1556" -MONDO:0006660 "ICD10:T78.41" MONDO:0006660 "NCIT:C34400" MONDO:0006660 "SCTID:402413008" HP:0001879 "UMLS:C4025738" @@ -13396,10 +13084,10 @@ MONDO:0017393 "Orphanet:293642" MONDO:0008274 "MedDRA:10036120" MONDO:0008274 "Orphanet:93276" MONDO:0008274 "SCTID:36517007" +MONDO:0008274 "ICD10CM:Q78.1" MONDO:0008274 "NCIT:C34610" MONDO:0008274 "MESH:D005359" MONDO:0008274 "ICD9:756.54" -MONDO:0008274 "ICD10:Q78.1" MONDO:0007077 "GARD:0007772" MONDO:0007077 "MESH:C536919" MONDO:0007077 "UMLS:C0391816" @@ -13434,8 +13122,8 @@ MONDO:0002576 "UMLS:C1333505" MONDO:0002576 "NCIT:C5847" MONDO:0030026 "OMIM:618863" MONDO:0011506 "OMIM:605021" +MONDO:0011506 "ICD10CM:G40.3" MONDO:0011506 "UMLS:C0917800" -MONDO:0011506 "ICD10:G40.3" MONDO:0011506 "Orphanet:352582" NCBITaxon:140564 "GC_ID:1" MONDO:0022574 "GARD:0000888" @@ -13445,18 +13133,16 @@ NCBITaxon:58839 "GC_ID:1" MONDO:0011895 "SCTID:423294001" MONDO:0011895 "UMLS:C0206141" MONDO:0011895 "Orphanet:3260" -MONDO:0011895 "ICD10:D47.5" MONDO:0011895 "OMIM:607685" MONDO:0005952 "ICD9:034.1" MONDO:0005952 "MESH:D012541" MONDO:0005952 "UMLS:C0036285" -MONDO:0005952 "ICD10:A38.9" +MONDO:0005952 "ICD10CM:A38" MONDO:0005952 "NCIT:C94575" MONDO:0005952 "ICD9:034" MONDO:0005952 "DOID:8596" MONDO:0005952 "EFO:0007477" MONDO:0005952 "SCTID:30242009" -MONDO:0005952 "ICD10:A38" MONDO:0002962 "NCIT:C27516" MONDO:0002962 "DOID:4323" MONDO:0002962 "UMLS:C1333414" @@ -13465,12 +13151,12 @@ MONDO:0007805 "OMIM:146520" MONDO:0007805 "Orphanet:90368" MONDO:0007805 "MESH:C564143" MONDO:0044641 "Orphanet:495818" +MONDO:0011621 "ICD10CM:Q74.0" MONDO:0011621 "UMLS:C1853812" MONDO:0011621 "GARD:0008485" MONDO:0011621 "Orphanet:85203" MONDO:0011621 "SCTID:720412009" MONDO:0011621 "MESH:C535664" -MONDO:0011621 "ICD10:Q74.0" MONDO:0011621 "OMIM:605967" MONDO:0021657 "ONCOTREE:SCST" MONDO:0021657 "EFO:1000430" @@ -13481,7 +13167,6 @@ MONDO:0021657 "DOID:0080369" MONDO:0016264 "SCTID:197284004" MONDO:0016264 "MedDRA:10003827" MONDO:0016264 "OMIM:109100" -MONDO:0016264 "ICD10:K75.4" MONDO:0016264 "UMLS:C1332355" MONDO:0016264 "EFO:0005676" MONDO:0016264 "ICD9:571.42" @@ -13492,13 +13177,13 @@ MONDO:0016264 "Orphanet:2137" MONDO:0016264 "SCTID:408335007" MONDO:0016264 "GARD:0005871" MONDO:0016264 "MESH:D019693" +MONDO:0016264 "ICD10CM:K75.4" MONDO:0015010 "Orphanet:289863" MONDO:0015010 "OMIM:617301" MONDO:0015010 "UMLS:C4310943" -MONDO:0015010 "ICD10:E72.5" +MONDO:0015010 "ICD10CM:E72.5" MONDO:0013215 "DOID:0110526" MONDO:0013215 "OMIM:613307" -MONDO:0013215 "ICD10:H90.3" MONDO:0013215 "MESH:C567651" MONDO:0013215 "UMLS:C2750082" MONDO:0012000 "OMIM:608251" @@ -13508,7 +13193,6 @@ MONDO:0012000 "NCIT:C35284" MONDO:0012000 "EFO:1001918" MONDO:0012000 "MESH:C562465" MONDO:0012000 "DOID:599" -MONDO:0012000 "ICD10:F40.2" MONDO:0003134 "NCIT:C35281" MONDO:0003134 "SCTID:441815006" MONDO:0003134 "ICD9:583.0" @@ -13521,22 +13205,21 @@ MONDO:0011927 "NCIT:C4487" MONDO:0011927 "ICDO:9161/0" MONDO:0011927 "SCTID:705155008" MONDO:0011927 "GARD:0000425" -MONDO:0011927 "ICD10:D18.0" MONDO:0011927 "OMIM:607859" MONDO:0011927 "MESH:C536924" +MONDO:0011927 "ICD10CM:D18.0" MONDO:0011927 "UMLS:C0346073" MONDO:0011927 "ICD9:215.9" MONDO:0011927 "HP:0012329" MONDO:0100422 "NCIT:C38362" MONDO:0100422 "NCIT:C129786" -MONDO:0010862 "ICD10:E10" MONDO:0010862 "UMLS:C1838261" MONDO:0010862 "DOID:0110743" MONDO:0010862 "MESH:C563959" MONDO:0010862 "OMIM:600319" MONDO:0017666 "HP:0007435" MONDO:0017666 "UMLS:C0022584" -MONDO:0017666 "ICD10:Q82.8" +MONDO:0017666 "ICD10CM:Q82.8" MONDO:0017666 "Orphanet:307141" MONDO:0017666 "ICD9:757.39" MONDO:0017666 "SCTID:400123002" @@ -13551,7 +13234,6 @@ MONDO:0013402 "DOID:0110397" MONDO:0013402 "OMIM:613750" MONDO:0013402 "UMLS:C1834329" MONDO:0013402 "MESH:C563526" -MONDO:0013402 "ICD10:H35.5" NCBITaxon:513040 "GC_ID:1" HP:0000421 "EFO:0003895" HP:0000421 "ICD10:R04.0" @@ -13575,7 +13257,7 @@ NCBITaxon:9606 "GC_ID:1" MONDO:0019640 "SCTID:253900005" MONDO:0019640 "MedDRA:10036369" MONDO:0019640 "UMLS:CN227669" -MONDO:0019640 "ICD10:Q64.2" +MONDO:0019640 "ICD10CM:Q64.2" MONDO:0019640 "Orphanet:93110" MONDO:0019640 "NCIT:C99021" MONDO:0019640 "UMLS:C0238506" @@ -13591,10 +13273,10 @@ MONDO:0011444 "OMIM:604356" MONDO:0011444 "Orphanet:233" MONDO:0011444 "SCTID:128083007" MONDO:0011444 "GARD:0009966" -MONDO:0006755 "ICD10:E07.81" MONDO:0006755 "DOID:2856" MONDO:0006755 "UMLS:C0015190" MONDO:0006755 "MESH:D005067" +MONDO:0006755 "ICD10CM:E07.81" MONDO:0006755 "EFO:1000931" MONDO:0006755 "ICD9:790.94" MONDO:0006755 "SCTID:237542005" @@ -13622,7 +13304,6 @@ MONDO:0000919 "ICD9:156.2" MONDO:0000919 "NCIT:C3536" MONDO:0000919 "SCTID:363417006" MONDO:0000919 "DOID:10020" -MONDO:0000919 "ICD10:C24.1" NCBITaxon:29547 "PMID:16403855" NCBITaxon:29547 "PMID:11837318" NCBITaxon:29547 "GC_ID:11" @@ -13645,21 +13326,21 @@ PO:0000003 "PO_GIT:538" PO:0000003 "PO_GIT:69" MONDO:0017900 "Orphanet:319547" MONDO:0017900 "UMLS:CN203956" -MONDO:0017900 "ICD10:D84.8" MONDO:0017900 "OMIM:614889" +MONDO:0017900 "ICD10CM:D84.8" MONDO:0011327 "GARD:0003971" MONDO:0011327 "Orphanet:2289" MONDO:0011327 "SCTID:715437003" +MONDO:0011327 "ICD10CM:G31.0" MONDO:0011327 "MESH:C537395" MONDO:0011327 "OMIM:603472" -MONDO:0011327 "ICD10:G31.0" MONDO:0011327 "NCIT:C122655" MONDO:0011327 "UMLS:C1863843" MONDO:0012885 "SCTID:733601006" -MONDO:0012885 "ICD10:E77.8" MONDO:0012885 "DOID:0080568" MONDO:0012885 "UMLS:C4317224" MONDO:0012885 "UMLS:C3150191" +MONDO:0012885 "ICD10CM:E77.8" MONDO:0012885 "OMIM:612379" MONDO:0012885 "Orphanet:324737" MONDO:0012885 "GARD:0012397" @@ -13670,7 +13351,7 @@ MONDO:0006638 "MESH:D015882" MONDO:0006638 "SCTID:231986000" CL:1001597 "CALOHA:TS-1283" MONDO:0015556 "Orphanet:158772" -MONDO:0015556 "ICD10:Q82.2" +MONDO:0015556 "ICD10CM:Q82.2" MONDO:0005063 "EFO:0000580" MONDO:0005063 "NCIT:C9119" MONDO:0005063 "ICDO:8512/3" @@ -13693,19 +13374,19 @@ MONDO:0022424 "UMLS:C2931251" MONDO:0022424 "MESH:C536584" MONDO:0007242 "OMIM:113960" MONDO:0010315 "NCIT:C4682" -MONDO:0010315 "SCTID:203592006" -MONDO:0010315 "ICD10:D81.2" -MONDO:0010315 "OMIM:300400" -MONDO:0010315 "Orphanet:276" MONDO:0010315 "EFO:0005555" MONDO:0010315 "DOID:0060013" +MONDO:0010315 "OMIM:300400" MONDO:0010315 "GARD:0005618" +MONDO:0010315 "SCTID:203592006" +MONDO:0010315 "Orphanet:276" +MONDO:0010315 "ICD10CM:D81.2" MONDO:0005626 "MESH:D009375" MONDO:0005626 "EFO:0006858" MONDO:0005626 "SCTID:118285006" MONDO:0005626 "NCIT:C3709" +MONDO:0014131 "ICD10CM:Q82.8" MONDO:0014131 "Orphanet:363523" -MONDO:0014131 "ICD10:Q82.8" MONDO:0014131 "UMLS:C3809160" MONDO:0014131 "OMIM:615328" MONDO:0030028 "OMIM:618868" @@ -13718,14 +13399,14 @@ MONDO:0016160 "OMIM:300423" MONDO:0016160 "OMIM:300088" MONDO:0016160 "OMIM:300607" MONDO:0016160 "UMLS:CN226857" -MONDO:0018656 "ICD10:E75.2" MONDO:0018656 "Orphanet:447896" MONDO:0018656 "UMLS:CN237714" MONDO:0018656 "OMIM:607694" +MONDO:0018656 "ICD10CM:E75.2" NCBITaxon:12967 "GC_ID:1" MONDO:0011036 "SCTID:763821001" +MONDO:0011036 "ICD10CM:Q87.8" MONDO:0011036 "UMLS:C1832472" -MONDO:0011036 "ICD10:Q87.8" MONDO:0011036 "GARD:0004437" MONDO:0011036 "MESH:C536336" MONDO:0011036 "Orphanet:2941" @@ -13756,28 +13437,21 @@ MONDO:0002741 "NCIT:C40135" MONDO:0002741 "DOID:3700" MONDO:0002741 "UMLS:C1519866" MONDO:0004867 "ICD9:478.19" -MONDO:0004867 "SCTID:201060008" MONDO:0004867 "DOID:974" +MONDO:0004867 "SCTID:201060008" +MONDO:0004867 "ICD10CM:J00-J06" MONDO:0004867 "ICD9:478.9" MONDO:0004867 "ICD9:478.1" -MONDO:0006230 "ICD10:C16.5" MONDO:0006230 "UMLS:CN237470" MONDO:0006230 "Orphanet:418959" MONDO:0006230 "SCTID:766980008" MONDO:0006230 "NCIT:C5475" -MONDO:0006230 "ICD10:C16.2" -MONDO:0006230 "ICD10:C16.8" -MONDO:0006230 "ICD10:C16.4" MONDO:0006230 "EFO:1000278" MONDO:0006230 "UMLS:C1333789" -MONDO:0006230 "ICD10:C16.1" MONDO:0006230 "DOID:5516" -MONDO:0006230 "ICD10:C16.0" -MONDO:0006230 "ICD10:C16.3" MONDO:0013372 "DOID:0110647" MONDO:0013372 "OMIM:613695" MONDO:0013372 "Orphanet:768" -MONDO:0013372 "ICD10:I45.8" MONDO:0013372 "Orphanet:101016" MONDO:0013372 "MESH:C566766" MONDO:0013372 "GARD:0010433" @@ -13795,10 +13469,10 @@ MONDO:0004008 "DOID:6841" MONDO:0032897 "OMIM:618748" MONDO:0015487 "DOID:0050713" MONDO:0015487 "OMIM:616500" -MONDO:0015487 "ICD10:G71.3" MONDO:0015487 "OMIM:615119" MONDO:0015487 "OMIM:604377" MONDO:0015487 "OMIM:616501" +MONDO:0015487 "ICD10CM:G71.3" MONDO:0015487 "SCTID:718124006" MONDO:0015487 "Orphanet:1561" MONDO:0015487 "GARD:0001113" @@ -13812,21 +13486,19 @@ MONDO:0002095 "MESH:D009383" MONDO:0002095 "NCIT:C8538" MONDO:0000783 "DOID:0060508" MONDO:0012477 "MESH:C563676" -MONDO:0012477 "ICD10:H35.5" MONDO:0012477 "DOID:0110366" MONDO:0012477 "GARD:0010400" MONDO:0012477 "OMIM:610359" MONDO:0012477 "UMLS:C1835895" MONDO:0011223 "GARD:0010502" MONDO:0011223 "UMLS:C1865409" +MONDO:0011223 "ICD10CM:G12.2" MONDO:0011223 "DOID:0060196" MONDO:0011223 "OMIM:602433" MONDO:0011223 "Orphanet:357043" -MONDO:0011223 "ICD10:G12.2" MONDO:0011223 "MESH:C566550" MONDO:0045038 "SCTID:240786004" MONDO:0045038 "UMLS:C0343966" -MONDO:0014446 "ICD10:Q87.89" MONDO:0014446 "DOID:0110140" MONDO:0014446 "OMIM:615995" MONDO:0014446 "UMLS:C3806174" @@ -13834,12 +13506,12 @@ MONDO:0024293 "OMIM:175020" MONDO:0005471 "EFO:0005254" FOODON:03401270 "http://www.langual.org/langual_thesaurus.asp?termid=A1270" MONDO:0008988 "DOID:0070340" -MONDO:0008988 "ICD10:E72.2" MONDO:0008988 "OMIM:215700" MONDO:0008988 "UMLS:C0175683" MONDO:0008988 "GARD:0006114" MONDO:0008988 "SCTID:398680004" MONDO:0008988 "NCIT:C150601" +MONDO:0008988 "ICD10CM:E72.2" MONDO:0008988 "Orphanet:247525" MONDO:0008988 "MedDRA:10058298" MONDO:0007671 "OMIM:601894" @@ -13848,9 +13520,10 @@ MONDO:0007671 "GARD:0009268" MONDO:0007671 "OMIM:137950" MONDO:0007671 "SCTID:236535001" MONDO:0007671 "MESH:C536826" -MONDO:0007671 "ICD10:N07.6" MONDO:0007671 "MESH:C562900" MONDO:0007671 "OMIMPS:137950" +MONDO:0007671 "ICD10CM:N07.6" +MONDO:0007500 "ICD10CM:Q10-Q18" MONDO:0007500 "ICD9:744.29" MONDO:0007500 "OMIM:128600" MONDO:0007500 "ICD9:744.3" @@ -13866,7 +13539,7 @@ MONDO:0008825 "UMLS:C1859711" MONDO:0008825 "OMIM:208155" MONDO:0008825 "SCTID:720514008" MONDO:0008825 "MESH:C538401" -MONDO:0008825 "ICD10:Q87.8" +MONDO:0008825 "ICD10CM:Q87.8" NCBITaxon:11040 "GC_ID:1" MONDO:0000970 "SCTID:276891009" MONDO:0000970 "UMLS:C0349565" @@ -13877,8 +13550,8 @@ NCBITaxon:36830 "GC_ID:11" MONDO:0012664 "UMLS:C1969645" MONDO:0012664 "DOID:0050942" MONDO:0012664 "UMLS:CN230089" -MONDO:0012664 "ICD10:G11.4" MONDO:0012664 "OMIM:611390" +MONDO:0012664 "ICD10CM:G11.4" MONDO:0012664 "Orphanet:314603" MONDO:0012664 "MESH:C566956" HP:0040194 "UMLS:C4083076" @@ -13892,8 +13565,8 @@ NCBITaxon:53551 "GC_ID:1" NCBITaxon:33758 "GC_ID:1" MONDO:0006053 "EFO:1000050" MONDO:0018248 "UMLS:CN204818" +MONDO:0018248 "ICD10CM:Q87.8" MONDO:0018248 "Orphanet:369950" -MONDO:0018248 "ICD10:Q87.8" HP:0012758 "UMLS:C4022738" MONDO:0003891 "NCIT:C6163" MONDO:0003891 "UMLS:C1332563" @@ -13910,11 +13583,11 @@ HP:0002917 "UMLS:C0151723" HP:0002917 "SNOMEDCT_US:190855004" HP:0010976 "UMLS:C1855067" MONDO:0009312 "UMLS:C2931279" -MONDO:0009312 "ICD10:E88.1" MONDO:0009312 "SCTID:724176001" MONDO:0009312 "MESH:C565529" MONDO:0009312 "OMIM:233805" MONDO:0009312 "GARD:0004280" +MONDO:0009312 "ICD10CM:E88.1" MONDO:0009312 "Orphanet:1979" MONDO:0009312 "GARD:0012604" MONDO:0024471 "Orphanet:496924" @@ -13933,51 +13606,48 @@ MONDO:0010317 "MESH:C563150" MONDO:0017033 "UMLS:CN202345" MONDO:0017033 "Orphanet:264935" MONDO:0016477 "UMLS:CN201472" -MONDO:0016477 "ICD10:Q87.3" +MONDO:0016477 "ICD10CM:Q87.3" MONDO:0016477 "Orphanet:231127" MONDO:0015721 "SCTID:26029002" MONDO:0015721 "Orphanet:169808" -MONDO:0015721 "ICD10:D66" +MONDO:0015721 "ICD10CM:D66" MONDO:0015721 "UMLS:C0272324" MONDO:0005100 "Orphanet:90291" -MONDO:0005100 "ICD10:M34.0" MONDO:0005100 "GARD:0009748" -MONDO:0005100 "ICD10:M34.9" +MONDO:0005100 "ICD10CM:M34.9" MONDO:0005100 "ICD9:710.1" +MONDO:0005100 "ICD10CM:M34.0" MONDO:0005100 "MESH:D012595" MONDO:0005100 "UMLS:CN206012" MONDO:0005100 "DOID:418" -MONDO:0005100 "ICD10:M34.8" +MONDO:0005100 "ICD10CM:M34.8" +MONDO:0005100 "ICD10CM:M34.2" MONDO:0005100 "SCTID:89155008" -MONDO:0005100 "ICD10:M34.1" MONDO:0005100 "MedDRA:10042953" MONDO:0005100 "OMIM:181750" MONDO:0005100 "EFO:0000717" MONDO:0005100 "NCIT:C72070" -MONDO:0005100 "ICD10:M34.2" +MONDO:0005100 "ICD10CM:M34.1" MONDO:0002814 "DOID:3950" MONDO:0040699 "SCTID:95797003" MONDO:0040699 "ICD9:379.09" MONDO:0008300 "UMLS:C0032897" MONDO:0008300 "ICD9:759.81" MONDO:0008300 "Orphanet:739" +MONDO:0008300 "ICD10CM:Q87.1" MONDO:0008300 "DOID:11983" MONDO:0008300 "GARD:0005575" MONDO:0008300 "OMIM:615547" MONDO:0008300 "SCTID:89392001" MONDO:0008300 "MedDRA:10036476" MONDO:0008300 "OMIM:176270" -MONDO:0008300 "ICD10:Q87.1" MONDO:0008300 "MESH:D011218" MONDO:0008300 "NCIT:C75463" +MONDO:0013467 "ICD10CM:D84.1" MONDO:0013467 "OMIM:613860" -MONDO:0013467 "ICD10:D84.1" MONDO:0013467 "UMLS:C3151226" MONDO:0013467 "SCTID:766705006" MONDO:0013467 "Orphanet:331190" -MONDO:0022760 "ICD10:Q93.5" -MONDO:0022760 "Orphanet:262182" -MONDO:0022760 "GARD:0008668" MONDO:0011193 "DOID:0080314" MONDO:0011193 "Orphanet:1872" MONDO:0011193 "OMIM:602093" @@ -13986,9 +13656,12 @@ MONDO:0011193 "UMLS:C1865869" MONDO:0001709 "DOID:13407" MONDO:0001709 "NCIT:C35807" MONDO:0001709 "UMLS:C1334067" +MONDO:0022760 "ICD10CM:Q93.5" +MONDO:0022760 "Orphanet:262182" +MONDO:0022760 "GARD:0008668" MONDO:0007103 "MESH:C531617" MONDO:0007103 "OMIM:105400" -MONDO:0007103 "ICD10:G12.2" +MONDO:0007103 "ICD10CM:G12.2" MONDO:0007103 "Orphanet:803" MONDO:0007103 "DOID:0060193" NCBITaxon:188544 "GC_ID:1" @@ -14022,6 +13695,7 @@ MONDO:0005321 "OMIM:615523" MONDO:0005321 "UMLS:C0016781" MONDO:0005321 "OMIM:613271" MONDO:0005321 "SCTID:193839007" +MONDO:0005321 "ICD10CM:H18.5" MONDO:0005321 "DOID:11555" MONDO:0005321 "OMIM:613268" MONDO:0005321 "OMIM:136800" @@ -14030,17 +13704,15 @@ MONDO:0005321 "OMIM:610158" MONDO:0005321 "UMLS:CN207231" MONDO:0005321 "OMIMPS:136800" MONDO:0005321 "EFO:0003946" -MONDO:0005321 "ICD10:H18.5" MONDO:0005321 "OMIM:613270" MONDO:0005321 "Orphanet:98974" -MONDO:0005321 "ICD10:H18.51" MONDO:0005321 "OMIM:613269" MONDO:0005321 "NCIT:C84721" MONDO:0007086 "Orphanet:88918" +MONDO:0007086 "ICD10CM:Q87.8" MONDO:0007086 "SCTID:717766000" MONDO:0007086 "Orphanet:63" MONDO:0007086 "GARD:0000624" -MONDO:0007086 "ICD10:Q87.8" MONDO:0007086 "OMIM:104200" MONDO:0007086 "DOID:0110032" NCBITaxon:1653 "PMID:27864136" @@ -14051,15 +13723,15 @@ HP:0002813 "UMLS:C4082761" MONDO:0004520 "UMLS:C1336096" MONDO:0004520 "DOID:8275" MONDO:0004520 "NCIT:C7325" -MONDO:0019853 "ICD10:E03.1" +MONDO:0019853 "ICD10CM:E03.1" MONDO:0019853 "Orphanet:95711" CL:1001589 "CALOHA:TS-1275" MONDO:0012256 "DOID:0110779" MONDO:0012256 "Orphanet:101008" MONDO:0012256 "UMLS:C1836295" MONDO:0012256 "OMIM:609340" +MONDO:0012256 "ICD10CM:G11.4" MONDO:0012256 "MESH:C563732" -MONDO:0012256 "ICD10:G11.4" MONDO:0012256 "SCTID:763376002" MONDO:0000820 "Orphanet:164" MONDO:0000820 "DOID:0060669" @@ -14070,10 +13742,10 @@ MONDO:0002585 "NCIT:C6940" HP:0000855 "UMLS:C0021655" HP:0000855 "SNOMEDCT_US:48606007" HP:0000855 "MSH:D007333" -MONDO:0009021 "ICD10:Q87.8" MONDO:0009021 "UMLS:C0796184" MONDO:0009021 "SCTID:722477003" MONDO:0009021 "MESH:C563127" +MONDO:0009021 "ICD10CM:Q87.8" MONDO:0009021 "Orphanet:3338" MONDO:0009021 "GARD:0005225" MONDO:0009021 "OMIM:217980" @@ -14089,20 +13761,17 @@ MONDO:0010298 "MESH:D007926" MONDO:0010298 "ICD9:277.2" MONDO:0010298 "Orphanet:510" MONDO:0010298 "SCTID:124275001" +MONDO:0010298 "ICD10CM:E79.1" MONDO:0010298 "GARD:0007226" MONDO:0010298 "UMLS:CN205196" MONDO:0010298 "DOID:1919" MONDO:0010298 "MedDRA:10057589" MONDO:0010298 "OMIM:308950" -MONDO:0010298 "ICD10:E79.1" MONDO:0005961 "EFO:0007486" MONDO:0005961 "SCTID:36971009" -MONDO:0005961 "ICD10:J01" -MONDO:0005961 "ICD10:J01.9" MONDO:0005961 "MESH:D012852" MONDO:0005961 "NCIT:C35024" MONDO:0005961 "ICD9:461" -MONDO:0005961 "ICD10:J01.90" MONDO:0005961 "UMLS:C0037199" MONDO:0005961 "ICD9:461.9" MONDO:0005961 "DOID:0050127" @@ -14114,43 +13783,43 @@ MONDO:0002311 "UMLS:C0154833" MONDO:0021571 "UMLS:CN031763" MONDO:0021571 "OMIM:126200" MONDO:0017339 "Orphanet:289586" -MONDO:0017339 "ICD10:Q80.8" MONDO:0017339 "OMIM:617115" MONDO:0017339 "UMLS:C1838440" +MONDO:0017339 "ICD10CM:Q80.8" MONDO:0017339 "OMIM:607936" MONDO:0016711 "UMLS:C0751291" -MONDO:0016711 "ICD10:C71.6" MONDO:0016711 "NCIT:C4956" MONDO:0016711 "ONCOTREE:DMBL" MONDO:0016711 "Orphanet:251863" MONDO:0016711 "ICDO:9471/3" +MONDO:0016711 "ICD10CM:C71.6" MONDO:0016711 "OMIM:155255" MONDO:0016711 "EFO:0005699" +MONDO:0020374 "ICD10CM:Q12.0" MONDO:0020374 "OMIM:614422" MONDO:0020374 "OMIM:115660" MONDO:0020374 "Orphanet:98989" -MONDO:0020374 "ICD10:Q12.0" MONDO:0020374 "GARD:0009508" MONDO:0020374 "ICD9:743.39" MONDO:0020374 "MESH:C537955" MONDO:0020374 "SCTID:204138006" -MONDO:0010485 "ICD10:Q87.0" MONDO:0010485 "OMIM:300915" +MONDO:0010485 "ICD10CM:Q87.0" MONDO:0010485 "Orphanet:431140" MONDO:0010485 "UMLS:C3806742" -MONDO:0001552 "HP:0002442" -MONDO:0001552 "NCIT:C97165" -MONDO:0001552 "MESH:D060705" -MONDO:0001552 "DOID:12568" -MONDO:0001552 "ICD9:315.1" -MONDO:0001552 "SCTID:47916000" -MONDO:0020550 "ICD10:C58" MONDO:0020550 "UMLS:C0349557" MONDO:0020550 "NCIT:C4646" MONDO:0020550 "DOID:2025" MONDO:0020550 "Orphanet:99926" MONDO:0020550 "ICD9:181" +MONDO:0020550 "ICD10CM:C58" MONDO:0020550 "SCTID:417570003" +MONDO:0001552 "HP:0002442" +MONDO:0001552 "NCIT:C97165" +MONDO:0001552 "MESH:D060705" +MONDO:0001552 "DOID:12568" +MONDO:0001552 "ICD9:315.1" +MONDO:0001552 "SCTID:47916000" MONDO:0010506 "UMLS:C4283894" MONDO:0010506 "OMIM:300978" MONDO:0003752 "UMLS:C1333645" @@ -14160,7 +13829,6 @@ MONDO:0001816 "ICD9:379.05" MONDO:0001816 "SCTID:42574005" MONDO:0001816 "DOID:13861" MONDO:0001816 "UMLS:C0155355" -MONDO:0001816 "ICD10:H15.04" MONDO:0010871 "OMIM:600335" MONDO:0010871 "Orphanet:936" MONDO:0010871 "MESH:C563952" @@ -14179,7 +13847,7 @@ MONDO:0019445 "MESH:C536553" MONDO:0019445 "Orphanet:864" MONDO:0030361 "OMIM:619486" MONDO:0018600 "Orphanet:440233" -MONDO:0018600 "ICD10:Q07.8" +MONDO:0018600 "ICD10CM:Q07.8" MONDO:0014648 "UMLS:C4085595" MONDO:0014648 "OMIM:616459" MONDO:0042488 "SCTID:86133004" @@ -14197,8 +13865,6 @@ MONDO:0006315 "NCIT:C37005" NCBITaxon:2169991 "GC_ID:1" MONDO:0002134 "DOID:1876" MONDO:0002134 "UMLS:C0549622" -MONDO:0002134 "ICD10:R37" -MONDO:0002134 "ICD10:F52.9" MONDO:0002134 "MESH:D012735" MONDO:0002134 "NCIT:C3347" MONDO:0002134 "SCTID:231532002" @@ -14206,7 +13872,7 @@ MONDO:0016256 "GARD:0003318" MONDO:0016256 "OMIM:616006" MONDO:0016256 "DOID:0060366" MONDO:0016256 "OMIMPS:235510" -MONDO:0016256 "ICD10:Q87.8" +MONDO:0016256 "ICD10CM:Q87.8" MONDO:0016256 "SCTID:234146006" MONDO:0016256 "ICD9:457.1" MONDO:0016256 "UMLS:C0340834" @@ -14216,7 +13882,6 @@ MONDO:0042724 "GARD:0000172" MONDO:0014944 "Orphanet:464288" MONDO:0014944 "OMIM:617157" MONDO:0014944 "UMLS:C4310689" -MONDO:0008076 "ICD10:G54.5" MONDO:0008076 "ICD9:353.5" MONDO:0008076 "Orphanet:2901" MONDO:0008076 "SCTID:3548001" @@ -14229,7 +13894,6 @@ MONDO:0010903 "MESH:C563471" MONDO:0010903 "OMIM:600593" MONDO:0010903 "UMLS:C1833578" MONDO:0005510 "EFO:0005562" -MONDO:0005510 "ICD10:N13.30" MONDO:0005510 "ICD9:591" MONDO:0005510 "UMLS:C0020295" MONDO:0005510 "MESH:D006869" @@ -14241,9 +13905,8 @@ MONDO:0008691 "UMLS:C1860229" MONDO:0008691 "OMIM:194470" MONDO:0008691 "Orphanet:251523" MONDO:0019632 "MedDRA:10025169" -MONDO:0019632 "ICD10:A69.20" MONDO:0019632 "Orphanet:91546" -MONDO:0019632 "ICD10:A69.2" +MONDO:0019632 "ICD10CM:A69.2" MONDO:0019632 "UMLS:C0024198" MONDO:0019632 "MESH:D008193" MONDO:0019632 "SCTID:48982009" @@ -14252,10 +13915,10 @@ MONDO:0019632 "DOID:11729" MONDO:0019632 "EFO:0008510" MONDO:0019632 "NCIT:C45161" MONDO:0019632 "ICD9:088.81" +MONDO:0014320 "ICD10CM:H47.2" MONDO:0014320 "Orphanet:401777" MONDO:0014320 "UMLS:C3810363" MONDO:0014320 "OMIM:615722" -MONDO:0014320 "ICD10:H47.2" CL:1001111 "KUPO:0001054" MONDO:0005556 "SCTID:68815009" MONDO:0005556 "NCIT:C34789" @@ -14279,14 +13942,13 @@ MONDO:0002017 "GARD:0007250" MONDO:0002017 "MESH:D009849" MONDO:0002017 "ICD9:333.0" MONDO:0002017 "DOID:14784" -MONDO:0002017 "ICD10:G23.8" MONDO:0002017 "UMLS:C0028968" MONDO:0003575 "DOID:5670" MONDO:0003575 "ICDO:8501/3" MONDO:0003575 "UMLS:C0334370" MONDO:0003575 "NCIT:C4188" MONDO:0016303 "Orphanet:216729" -MONDO:0016303 "ICD10:Q20.3" +MONDO:0016303 "ICD10CM:Q20.3" MONDO:0006951 "UMLS:C0035328" MONDO:0006951 "MESH:D012170" MONDO:0006951 "SCTID:46085004" @@ -14312,12 +13974,12 @@ MONDO:0006138 "EFO:1000167" MONDO:0006138 "NCIT:C40214" MONDO:0006138 "UMLS:C1516417" MONDO:0017705 "Orphanet:3090" -MONDO:0017705 "ICD10:Q26.4" MONDO:0017705 "GARD:0004599" -MONDO:0017705 "ICD10:Q26.2" +MONDO:0017705 "ICD10CM:Q26.3" MONDO:0017705 "UMLS:C0036400" -MONDO:0017705 "ICD10:Q26.3" +MONDO:0017705 "ICD10CM:Q26.4" MONDO:0017705 "OMIM:106700" +MONDO:0017705 "ICD10CM:Q26.2" MONDO:0021350 "NCIT:C3406" MONDO:0021350 "ICD9:239.89" MONDO:0021350 "UMLS:C0039981" @@ -14329,21 +13991,20 @@ MONDO:0020153 "NCIT:C124520" MONDO:0020153 "DOID:0111716" MONDO:0020153 "GARD:0010505" MONDO:0013177 "OMIM:613204" -MONDO:0013177 "ICD10:G71.2" MONDO:0013177 "MESH:C567709" MONDO:0013177 "GARD:0012587" +MONDO:0013177 "ICD10CM:G71.2" MONDO:0013177 "Orphanet:34520" MONDO:0013177 "DOID:0110639" MONDO:0013177 "UMLS:C2750786" MONDO:0024744 "NCIT:C42080" MONDO:0014123 "OMIM:615294" -MONDO:0014123 "ICD10:Q34.8" MONDO:0014123 "UMLS:C3809087" MONDO:0014123 "DOID:0110596" MONDO:0017192 "UMLS:CN202632" -MONDO:0017192 "ICD10:C75.5" +MONDO:0017192 "ICD10CM:C75.5" MONDO:0017192 "Orphanet:276627" -MONDO:0017192 "ICD10:D44.7" +MONDO:0017192 "ICD10CM:D44.7" MONDO:0002806 "SCTID:363493006" MONDO:0002806 "EFO:1001942" MONDO:0002806 "UMLS:C0007121" @@ -14367,14 +14028,14 @@ MONDO:0005126 "UMLS:C0023351" MONDO:0005126 "MESH:D015441" MONDO:0005126 "SCTID:70143003" MONDO:0005126 "ICD9:030.1" +MONDO:0005126 "ICD10CM:A30.1" MONDO:0005126 "EFO:0001056" -MONDO:0005126 "ICD10:A30.1" MONDO:0007579 "OMIM:133270" MONDO:0008283 "NCIT:C7035" +MONDO:0008283 "ICD10CM:D12.6" MONDO:0008283 "SCTID:76304001" MONDO:0008283 "MESH:D044483" MONDO:0008283 "Orphanet:2930" -MONDO:0008283 "ICD10:D12.6" MONDO:0008283 "OMIM:175500" MONDO:0008283 "MedDRA:10062907" MONDO:0008283 "DOID:6225" @@ -14388,13 +14049,12 @@ MONDO:0008502 "OMIM:185460" MONDO:0008502 "MESH:C566102" MONDO:0013990 "UMLS:C3554209" MONDO:0013990 "SCTID:718611007" +MONDO:0013990 "ICD10CM:Q04.3" MONDO:0013990 "DOID:0060277" MONDO:0013990 "Orphanet:324569" MONDO:0013990 "OMIM:614961" -MONDO:0013990 "ICD10:Q04.3" MONDO:0001402 "MESH:D014625" MONDO:0001402 "GARD:0009348" -MONDO:0001402 "ICD10:C52" MONDO:0001402 "DOID:119" MONDO:0001402 "NCIT:C3437" MONDO:0001402 "NCIT:C7410" @@ -14422,9 +14082,9 @@ MONDO:0009685 "OMIM:613318" MONDO:0009685 "DOID:0070198" MONDO:0009685 "MESH:C537480" MONDO:0009685 "OMIMPS:254130" +MONDO:0009685 "ICD10CM:G71.0" MONDO:0009685 "NCIT:C118846" MONDO:0009685 "OMIM:254130" -MONDO:0009685 "ICD10:G71.0" MONDO:0009685 "OMIM:613319" MONDO:0003050 "SCTID:254629004" MONDO:0003050 "NCIT:C4450" @@ -14436,8 +14096,6 @@ MONDO:0003050 "DOID:4556" MONDO:0003050 "ICD9:162.9" MONDO:0015934 "Orphanet:182124" MONDO:0005009 "ICD9:428.9" -MONDO:0005009 "ICD10:I50.0" -MONDO:0005009 "ICD10:I50" MONDO:0005009 "ICD9:404.13" MONDO:0005009 "ICD9:404.01" MONDO:0005009 "NCIT:C3080" @@ -14448,7 +14106,6 @@ MONDO:0005009 "EFO:0000373" MONDO:0005009 "MESH:D006333" MONDO:0005009 "DOID:6000" MONDO:0005009 "ICD9:428.0" -MONDO:0005009 "ICD10:I50.9" MONDO:0005009 "ICD9:404.11" MONDO:0005009 "UMLS:C0018802" MONDO:0005009 "NCIT:C50577" @@ -14457,20 +14114,18 @@ MONDO:0006567 "EFO:1000721" MONDO:0006567 "SCTID:359007" MONDO:0006567 "NCIT:C101270" MONDO:0006567 "UMLS:C0270204" -MONDO:0006567 "ICD10:P57.0" +MONDO:0006567 "ICD10CM:P57.0" MONDO:0006567 "DOID:12043" MONDO:0008470 "Orphanet:163673" MONDO:0008470 "MESH:C566660" MONDO:0008470 "UMLS:C1866727" MONDO:0008470 "OMIM:183850" -MONDO:0005480 "ICD10:L25" MONDO:0005480 "SCTID:40275004" MONDO:0005480 "ICD9:692.9" MONDO:0005480 "ICD9:692.89" MONDO:0005480 "MESH:D003877" MONDO:0005480 "DOID:2773" MONDO:0005480 "EFO:0005319" -MONDO:0005480 "ICD10:L25.9" MONDO:0005480 "UMLS:C0011616" MONDO:0005480 "NCIT:C26743" MONDO:0009943 "ICD9:758.5" @@ -14479,18 +14134,18 @@ MONDO:0009943 "MESH:C536252" MONDO:0009943 "Orphanet:3005" MONDO:0009943 "OMIM:215050" MONDO:0009943 "DOID:0080019" +MONDO:0009943 "ICD10CM:Q78.5" MONDO:0009943 "GARD:0004612" MONDO:0009943 "OMIM:265900" -MONDO:0009943 "ICD10:Q78.5" MONDO:0010650 "SCTID:13449007" MONDO:0010650 "MedDRA:10060908" MONDO:0010650 "DOID:0111788" MONDO:0010650 "UMLS:C0025237" MONDO:0010650 "Orphanet:2484" -MONDO:0010650 "ICD10:Q77.8" MONDO:0010650 "OMIM:309350" MONDO:0010650 "ICD9:756.59" MONDO:0010650 "GARD:0007011" +MONDO:0010650 "ICD10CM:Q77.8" CL:0002293 "CALOHA:TS-1040" CL:0002293 "FMA:72208" MONDO:0024567 "OMIM:615419" @@ -14502,22 +14157,21 @@ MONDO:0007945 "UMLS:C1835134" MONDO:0007945 "OMIM:154570" MONDO:0007945 "MESH:C563601" MONDO:0016106 "UMLS:CN241791" -MONDO:0016106 "ICD10:G71.0" +MONDO:0016106 "ICD10CM:G71.0" MONDO:0016106 "Orphanet:206644" MONDO:0016106 "GARD:0012583" MONDO:0032938 "OMIM:618824" +MONDO:0006882 "ICD10CM:N45.2" MONDO:0006882 "MedDRA:10031064" MONDO:0006882 "MESH:D009920" MONDO:0006882 "DOID:2518" MONDO:0006882 "HP:0100796" MONDO:0006882 "NCIT:C97145" -MONDO:0006882 "ICD10:N45.2" MONDO:0006882 "UMLS:C0029191" MONDO:0006882 "SCTID:274718005" MONDO:0006882 "EFO:1001078" MONDO:0011067 "UMLS:C1832394" MONDO:0011067 "DOID:0110467" -MONDO:0011067 "ICD10:H90.3" MONDO:0011067 "OMIM:601386" MONDO:0011067 "MESH:C563327" MONDO:0012141 "Orphanet:1991" @@ -14533,10 +14187,10 @@ HP:0001080 "SNOMEDCT_US:105997008" HP:0001080 "UMLS:C0549613" HP:0001080 "MSH:D001660" MONDO:0001396 "ICD9:368.63" -MONDO:0001396 "ICD10:H53.61" MONDO:0001396 "DOID:11874" MONDO:0001396 "UMLS:C0155019" MONDO:0001396 "SCTID:50455002" +MONDO:0001396 "ICD10CM:H53.61" MONDO:0007299 "UMLS:C0175695" MONDO:0007299 "Orphanet:821" MONDO:0007299 "UMLS:CN035106" @@ -14552,26 +14206,23 @@ MONDO:0011382 "MedDRA:10040641" MONDO:0011382 "ICD9:282.60" MONDO:0011382 "EFO:1001797" MONDO:0011382 "OMIM:603903" +MONDO:0011382 "ICD10CM:D57.1" MONDO:0011382 "NCIT:C34383" MONDO:0011382 "DOID:10923" +MONDO:0011382 "ICD10CM:D57.0" +MONDO:0011382 "ICD10CM:D57.2" MONDO:0011382 "ICD9:282.63" -MONDO:0011382 "ICD10:D57.1" MONDO:0011382 "ICD9:282.6" -MONDO:0011382 "ICD10:D57.20" MONDO:0011382 "UMLS:C0002895" MONDO:0011382 "Orphanet:232" MONDO:0011382 "MESH:D000755" -MONDO:0011382 "ICD10:D57.2" MONDO:0011382 "GARD:0008614" -MONDO:0011382 "ICD10:D57" -MONDO:0011382 "ICD10:D57.0" MONDO:0013582 "Orphanet:1052" MONDO:0013582 "DOID:0080142" MONDO:0013582 "OMIM:614114" MONDO:0013582 "UMLS:C3279843" MONDO:0044269 "OMIM:601696" MONDO:0013411 "DOID:0110250" -MONDO:0013411 "ICD10:Q12.0" MONDO:0013411 "OMIM:613763" MONDO:0013411 "Orphanet:98993" MONDO:0013411 "MESH:C565134" @@ -14600,14 +14251,15 @@ MONDO:0011590 "OMIM:605746" MONDO:0011590 "MESH:C565299" MONDO:0015526 "DOID:0060294" MONDO:0015526 "Orphanet:157820" +MONDO:0015526 "ICD10CM:G90.8" MONDO:0015526 "OMIMPS:272430" -MONDO:0015526 "ICD10:G90.8" MONDO:0015526 "SCTID:702363009" MONDO:0015526 "OMIM:272430" MONDO:0015526 "UMLS:CN043579" MONDO:0015526 "MESH:C536214" MONDO:0015526 "OMIM:617055" MONDO:0015526 "OMIM:610313" +MONDO:0024996 "OMIM:276905" MONDO:0024996 "GARD:0005441" MONDO:0004616 "ICD9:054.6" MONDO:0004616 "DOID:8607" @@ -14618,7 +14270,7 @@ MONDO:0020576 "NCIT:C112210" MONDO:0020576 "UMLS:C0262988" MONDO:0017862 "UMLS:CN227212" MONDO:0017862 "Orphanet:31827" -MONDO:0017862 "ICD10:T60.3" +MONDO:0017862 "ICD10CM:T60.3" MONDO:0010370 "UMLS:C1802395" MONDO:0010370 "Orphanet:199" MONDO:0010370 "OMIM:300590" @@ -14633,19 +14285,19 @@ MONDO:0000627 "NCIT:C4621" MONDO:0000627 "SCTID:92085000" MONDO:0019476 "Orphanet:86885" MONDO:0019476 "MedDRA:10034623" -MONDO:0019476 "ICD10:C84.4" +MONDO:0019476 "ICD10CM:C84.4" HP:0001373 "SNOMEDCT_US:108367008" HP:0001373 "SNOMEDCT_US:87642003" HP:0001373 "UMLS:C0012691" HP:0001373 "MSH:D004204" MONDO:0019129 "UMLS:CN227576" -MONDO:0019129 "ICD10:Q87.8" MONDO:0019129 "SCTID:717813005" MONDO:0019129 "Orphanet:73223" +MONDO:0019129 "ICD10CM:Q87.8" MONDO:0019305 "Orphanet:79391" +MONDO:0018279 "ICD10CM:G71.2" MONDO:0018279 "OMIM:606612" MONDO:0018279 "OMIM:613152" -MONDO:0018279 "ICD10:G71.2" MONDO:0018279 "Orphanet:370980" MONDO:0021656 "NCIT:C121619" MONDO:0021656 "GARD:0010165" @@ -14660,25 +14312,20 @@ MONDO:0016967 "Orphanet:262968" MONDO:0016967 "UMLS:CN035860" MONDO:0016967 "GARD:0005320" MONDO:0015713 "UMLS:C0342544" +MONDO:0015713 "ICD10CM:E22.8" MONDO:0015713 "NCIT:C120372" MONDO:0015713 "Orphanet:169615" MONDO:0015713 "ICD9:259.1" -MONDO:0015713 "ICD10:E22.8" MONDO:0015713 "SCTID:237817008" MONDO:0006346 "NCIT:C7977" -MONDO:0006346 "ICD10:C25.0" -MONDO:0006346 "ICD10:C25.2" MONDO:0006346 "Orphanet:424046" MONDO:0006346 "UMLS:C0279661" MONDO:0006346 "DOID:5742" MONDO:0006346 "ONCOTREE:PAAC" -MONDO:0006346 "ICD10:C25.1" MONDO:0006346 "EFO:1000439" -MONDO:0006346 "ICD10:C25.7" -MONDO:0006346 "ICD10:C25.8" MONDO:0016108 "Orphanet:206650" -MONDO:0016108 "ICD10:G71.0" MONDO:0016108 "UMLS:CN229018" +MONDO:0016108 "ICD10CM:G71.0" MONDO:0014975 "OMIM:617225" MONDO:0014975 "Orphanet:513436" MONDO:0014975 "UMLS:C4310662" @@ -14690,29 +14337,29 @@ MONDO:0003285 "DOID:5124" MONDO:0017571 "GARD:0004525" MONDO:0017571 "OMIM:158350" MONDO:0017571 "SCTID:716862002" +MONDO:0017571 "ICD10CM:Q87.3" MONDO:0017571 "GARD:0012801" -MONDO:0017571 "ICD10:Q87.3" MONDO:0017571 "Orphanet:2969" MONDO:0008105 "GARD:0010040" MONDO:0008105 "OMIM:164000" MONDO:0008105 "MESH:C538354" HP:0030680 "UMLS:C4049796" MONDO:0006661 "MESH:D001206" -MONDO:0006661 "ICD10:E54" MONDO:0006661 "EFO:1000822" +MONDO:0006661 "ICD10CM:E54" MONDO:0006661 "SCTID:76169001" MONDO:0006661 "MedDRA:10047623" MONDO:0006661 "ICD9:267" -MONDO:0015349 "ICD10:E75.2" MONDO:0015349 "Orphanet:139447" MONDO:0015349 "SCTID:719267003" +MONDO:0015349 "ICD10CM:E75.2" MONDO:0015349 "UMLS:C4304840" MONDO:0017549 "Orphanet:295207" -MONDO:0017549 "ICD10:Q74.0" +MONDO:0017549 "ICD10CM:Q74.0" MONDO:0002273 "ICD9:273.8" MONDO:0002273 "DOID:2345" MONDO:0024417 "MESH:D010468" -MONDO:0018665 "ICD10:E22.0" +MONDO:0018665 "ICD10CM:E22.0" MONDO:0018665 "Orphanet:448348" MONDO:0018665 "UMLS:CN237730" MONDO:0009546 "OMIM:248100" @@ -14724,9 +14371,9 @@ MONDO:0008776 "OMIM:204850" MONDO:0008776 "GARD:0000657" MONDO:0009722 "SCTID:723439002" MONDO:0009722 "MESH:C538343" -MONDO:0009722 "ICD10:G71.2" MONDO:0009722 "GARD:0008432" MONDO:0009722 "UMLS:C1850625" +MONDO:0009722 "ICD10CM:G71.2" MONDO:0009722 "DOID:0060346" MONDO:0009722 "OMIM:255995" MONDO:0009722 "Orphanet:168572" @@ -14743,22 +14390,22 @@ MONDO:0013014 "GARD:0010513" MONDO:0013014 "MESH:C567558" MONDO:0013014 "Orphanet:171866" MONDO:0013014 "UMLS:C2748544" -MONDO:0013014 "ICD10:Q77.7" +MONDO:0013014 "ICD10CM:Q77.7" MONDO:0014572 "OMIM:616291" -MONDO:0014572 "ICD10:G11.1" MONDO:0014572 "UMLS:C4225383" +MONDO:0014572 "ICD10CM:G11.1" MONDO:0014572 "Orphanet:448251" MONDO:0014572 "DOID:0080065" MONDO:0017736 "ICD9:277.89" +MONDO:0017736 "ICD10CM:E77.8" MONDO:0017736 "UMLS:C0342851" -MONDO:0017736 "ICD10:E77.8" MONDO:0017736 "Orphanet:309319" MONDO:0017736 "SCTID:238050009" MONDO:0018810 "Orphanet:480528" MONDO:0018810 "UMLS:CN776878" HP:0010892 "UMLS:C4023673" MONDO:0001207 "ICD9:770.84" -MONDO:0001207 "ICD10:P28.5" +MONDO:0001207 "ICD10CM:P28.5" MONDO:0001207 "SCTID:95619009" MONDO:0001207 "DOID:11161" MONDO:0001207 "UMLS:C0521648" @@ -14770,7 +14417,6 @@ MONDO:0021205 "NCIT:C26757" MONDO:0021205 "SCTID:25906001" MONDO:0021205 "ICD9:388.9" MONDO:0016516 "NCIT:C130991" -MONDO:0016516 "ICD10:Q87.1" MONDO:0016516 "MESH:C537020" MONDO:0016516 "OMIM:244460" MONDO:0016516 "ICD9:759.89" @@ -14779,6 +14425,7 @@ MONDO:0016516 "SCTID:82837002" MONDO:0016516 "UMLS:C0265291" MONDO:0016516 "Orphanet:2333" MONDO:0016516 "OMIMPS:127000" +MONDO:0016516 "ICD10CM:Q87.1" MONDO:0020179 "Orphanet:98588" MONDO:0020179 "UMLS:C0239460" MONDO:0020179 "SCTID:231827008" @@ -14800,8 +14447,8 @@ MONDO:0011232 "GARD:0010095" MONDO:0011232 "UMLS:C1865322" MONDO:0011232 "DOID:0111182" MONDO:0011232 "Orphanet:569" +MONDO:0018164 "ICD10CM:G54.0" MONDO:0018164 "Orphanet:357107" -MONDO:0018164 "ICD10:G54.0" MONDO:0018164 "UMLS:C1956395" MONDO:0018164 "SCTID:8051000119105" MONDO:0017394 "Orphanet:293807" @@ -14810,8 +14457,8 @@ MONDO:0017394 "SCTID:726613003" MONDO:0017394 "UMLS:CN227122" MONDO:0008275 "OMIM:174810" MONDO:0008275 "DOID:0111542" +MONDO:0008275 "ICD10CM:M89.5" MONDO:0008275 "SCTID:254153009" -MONDO:0008275 "ICD10:M89.5" MONDO:0008275 "GARD:0009168" MONDO:0008275 "MESH:C536335" MONDO:0008275 "Orphanet:85195" @@ -14820,7 +14467,7 @@ MONDO:0015778 "Orphanet:177107" MONDO:0015778 "UMLS:CN226739" MONDO:0018340 "Orphanet:397692" MONDO:0018340 "OMIM:616553" -MONDO:0018340 "ICD10:D61.0" +MONDO:0018340 "ICD10CM:D61.0" MONDO:0007078 "ICD9:275.49" MONDO:0007078 "GARD:0005770" MONDO:0007078 "UMLS:C0033806" @@ -14828,11 +14475,11 @@ MONDO:0007078 "DOID:0080053" MONDO:0007078 "SCTID:58833000" MONDO:0007078 "UMLS:C3494506" MONDO:0007078 "OMIM:103580" +MONDO:0007078 "ICD10CM:E20.1" MONDO:0007078 "Orphanet:79443" MONDO:0007078 "MESH:C537045" MONDO:0007078 "GARD:0007486" MONDO:0007078 "UMLS:C2931404" -MONDO:0007078 "ICD10:E20.1" MONDO:0007078 "NCIT:C129721" MONDO:0025149 "MESH:D016643" MONDO:0005766 "MESH:D008172" @@ -14854,7 +14501,6 @@ MONDO:0001561 "DOID:12639" MONDO:0001561 "NCIT:C34966" MONDO:0001561 "SCTID:367403001" MONDO:0001561 "MedDRA:10062499" -MONDO:0001561 "ICD10:K31.1" MONDO:0001561 "MESH:D017219" MONDO:0001561 "EFO:1000947" MONDO:0001561 "MESH:D011707" @@ -14866,17 +14512,17 @@ MONDO:0008020 "MESH:C563566" MONDO:0007464 "Orphanet:99177" MONDO:0007464 "SCTID:95339000" MONDO:0007464 "OMIM:126300" -MONDO:0007464 "ICD10:Q10.3" MONDO:0007464 "ICD9:743.63" +MONDO:0007464 "ICD10CM:Q10.3" MONDO:0013803 "MESH:C000598644" MONDO:0013803 "UMLS:C3281200" MONDO:0013803 "OMIM:614561" MONDO:0013803 "Orphanet:542310" MONDO:0015683 "Orphanet:168807" -MONDO:0015683 "ICD10:C45.1" -MONDO:0015683 "ICD10:C48.2" +MONDO:0015683 "ICD10CM:C45.1" +MONDO:0015683 "ICD10CM:C48.1" MONDO:0015683 "UMLS:CN200181" -MONDO:0015683 "ICD10:C48.1" +MONDO:0015683 "ICD10CM:C48.2" MONDO:0009391 "OMIM:238800" MONDO:0009391 "UMLS:C1855926" MONDO:0009391 "MESH:C565498" @@ -14886,15 +14532,14 @@ MONDO:0012634 "UMLS:C1970027" MONDO:0012634 "OMIM:611174" MONDO:0012634 "Orphanet:314555" MONDO:0011928 "Orphanet:1756" +MONDO:0011928 "ICD10CM:Q87.8" MONDO:0011928 "MESH:C564315" -MONDO:0011928 "ICD10:Q87.8" MONDO:0011928 "UMLS:C1842884" MONDO:0011928 "GARD:0001164" MONDO:0011928 "SCTID:71464000" MONDO:0011928 "OMIM:607864" MONDO:0016382 "Orphanet:222628" MONDO:0004618 "UMLS:C0154701" -MONDO:0004618 "ICD10:G83.0" MONDO:0004618 "DOID:862" MONDO:0004618 "ICD9:344.2" MONDO:0004618 "SCTID:54099005" @@ -14915,13 +14560,13 @@ MONDO:0008496 "GARD:0005035" MONDO:0008496 "UMLS:C1861452" MONDO:0008496 "OMIM:185069" MONDO:0008496 "MESH:C566109" -MONDO:0017003 "ICD10:Q99.8" +MONDO:0017003 "ICD10CM:Q99.8" MONDO:0017003 "Orphanet:263726" MONDO:0018561 "Orphanet:435561" MONDO:0018561 "HP:0010465" MONDO:0018561 "UMLS:C0271616" MONDO:0020415 "Orphanet:99077" -MONDO:0020415 "ICD10:Q25.4" +MONDO:0020415 "ICD10CM:Q25.4" MONDO:0020415 "SCTID:74561007" MONDO:0011622 "OMIM:605990" MONDO:0032592 "OMIM:618189" @@ -14930,8 +14575,8 @@ HP:0011001 "UMLS:C0029464" HP:0011001 "MSH:D010026" MONDO:0021658 "UMLS:C0002959" MONDO:0021658 "NCIT:C45481" -MONDO:0019641 "ICD10:N05.7" MONDO:0019641 "Orphanet:93126" +MONDO:0019641 "ICD10CM:N05.7" MONDO:0012001 "UMLS:C1842349" MONDO:0012001 "OMIM:608257" MONDO:0012001 "MESH:C564267" @@ -14941,22 +14586,21 @@ MONDO:0003135 "DOID:4779" MONDO:0008379 "DOID:0110388" MONDO:0008379 "OMIM:180105" MONDO:0008379 "MESH:C566715" -MONDO:0008379 "ICD10:H35.5" MONDO:0008379 "UMLS:C1867299" MONDO:0018444 "Orphanet:404469" -MONDO:0018444 "ICD10:N97.8" +MONDO:0018444 "ICD10CM:N97.8" MONDO:0100423 "NCIT:C82612" MONDO:0010863 "DOID:0110744" MONDO:0010863 "OMIM:600320" MONDO:0010863 "MESH:C563958" MONDO:0010863 "UMLS:C1838260" -MONDO:0010863 "ICD10:E10" MONDO:0032663 "OMIM:618298" MONDO:0013574 "SCTID:254221009" MONDO:0013574 "MESH:C563639" MONDO:0013574 "UMLS:C0432335" MONDO:0013574 "Orphanet:171719" MONDO:0013574 "OMIM:614100" +MONDO:0010043 "ICD10CM:G11.4" MONDO:0010043 "DOID:0110770" MONDO:0010043 "OMIM:270685" MONDO:0010043 "MESH:C536644" @@ -14964,15 +14608,14 @@ MONDO:0010043 "Orphanet:100998" MONDO:0010043 "UMLS:CN074197" MONDO:0010043 "GARD:0004219" MONDO:0010043 "UMLS:C2931276" -MONDO:0010043 "ICD10:G11.4" +MONDO:0015232 "ICD10CM:Q73.8" MONDO:0015232 "UMLS:CN226642" MONDO:0015232 "Orphanet:1121" -MONDO:0015232 "ICD10:Q73.8" NCBITaxon:721813 "GC_ID:1" MONDO:0017432 "UMLS:CN203180" MONDO:0017432 "Orphanet:294955" +MONDO:0015557 "ICD10CM:C96.2" MONDO:0015557 "Orphanet:158775" -MONDO:0015557 "ICD10:C96.2" MONDO:0024419 "SCTID:359643005" MONDO:0024419 "UMLS:C1282952" MONDO:0024419 "NCIT:C114470" @@ -14994,9 +14637,9 @@ MONDO:0004482 "SCTID:403991009" MONDO:0004482 "UMLS:C1333612" MONDO:0022425 "GARD:0000362" MONDO:0016673 "GARD:0012923" -MONDO:0016673 "ICD10:Q81.8" MONDO:0016673 "OMIM:226650" MONDO:0016673 "UMLS:CN201914" +MONDO:0016673 "ICD10CM:Q81.8" MONDO:0016673 "Orphanet:251393" MONDO:0013795 "OMIM:614524" MONDO:0013795 "UMLS:C3281128" @@ -15007,40 +14650,37 @@ MONDO:0001209 "SCTID:57019003" MONDO:0001209 "ICD9:078.1" MONDO:0001209 "ICD9:078.10" MONDO:0001209 "ICD9:078.19" -MONDO:0001209 "ICD10:B07" -MONDO:0001209 "ICD10:B07.8" MONDO:0001209 "DOID:11165" MONDO:0001209 "UMLS:C0043037" MONDO:0016959 "Orphanet:262896" MONDO:0021207 "SCTID:91390005" MONDO:0021207 "UMLS:C0267379" -MONDO:0016161 "ICD10:Q04.8" MONDO:0016161 "SCTID:725418006" MONDO:0016161 "Orphanet:2081" MONDO:0016161 "GARD:0001206" MONDO:0016161 "UMLS:CN200907" +MONDO:0016161 "ICD10CM:Q04.8" MONDO:0009148 "Orphanet:90339" MONDO:0009148 "UMLS:C0796139" MONDO:0009148 "OMIM:225000" MONDO:0009148 "MESH:C563117" +MONDO:0007808 "ICD10CM:Q80.8" MONDO:0007808 "ICD9:757.39" MONDO:0007808 "UMLS:C1840296" MONDO:0007808 "GARD:0002954" MONDO:0007808 "OMIM:146590" -MONDO:0007808 "ICD10:Q80.8" MONDO:0007808 "SCTID:254170001" MONDO:0007808 "Orphanet:79503" MONDO:0007808 "MESH:C536088" -MONDO:0017901 "ICD10:D84.8" MONDO:0017901 "UMLS:CN203960" MONDO:0017901 "OMIM:209950" +MONDO:0017901 "ICD10CM:D84.8" MONDO:0017901 "Orphanet:319569" MONDO:0000469 "DOID:0050824" MONDO:0006639 "HP:0006744" MONDO:0006639 "GARD:0000558" MONDO:0006639 "DOID:660" MONDO:0006639 "SCTID:371964008" -MONDO:0006639 "ICD10:C74.0" MONDO:0006639 "MedDRA:10001388" MONDO:0006639 "Orphanet:1501" MONDO:0006639 "NCIT:C9327" @@ -15066,17 +14706,17 @@ HP:0004322 "SNOMEDCT_US:237836003" MONDO:0010455 "DOID:0080319" MONDO:0010455 "OMIM:300853" MONDO:0010455 "SCTID:711481001" -MONDO:0010455 "ICD10:D81.8" MONDO:0010455 "Orphanet:317476" MONDO:0010455 "GARD:0010907" MONDO:0010455 "UMLS:C3275445" -MONDO:0020520 "ICD10:J84.82" +MONDO:0010455 "ICD10CM:D81.8" MONDO:0020520 "SCTID:328611000119105" MONDO:0020520 "NCIT:C142833" MONDO:0020520 "UMLS:C1455705" MONDO:0020520 "UMLS:C3161104" MONDO:0020520 "Orphanet:99874" -MONDO:0020520 "ICD10:C96.5" +MONDO:0020520 "ICD10CM:J84.82" +MONDO:0020520 "ICD10CM:C96.5" MONDO:0019299 "UMLS:CN205933" MONDO:0019299 "Orphanet:79385" MONDO:0022648 "GTR:AN0103739" @@ -15087,12 +14727,11 @@ MONDO:0022648 "UMLS:CN036924" MONDO:0017255 "EFO:1001082" MONDO:0017255 "GARD:0008577" MONDO:0017255 "MESH:D015864" +MONDO:0017255 "ICD10CM:H44.1" MONDO:0017255 "HP:0012121" MONDO:0017255 "SCTID:75614007" MONDO:0017255 "ICD9:360.12" -MONDO:0017255 "ICD10:H44.11" MONDO:0017255 "Orphanet:280898" -MONDO:0017255 "ICD10:H44.1" MONDO:0017255 "MedDRA:10033687" MONDO:0017255 "NCIT:C84989" MONDO:0017255 "DOID:12030" @@ -15109,18 +14748,15 @@ MONDO:0002096 "DOID:1751" MONDO:0002096 "SCTID:255004001" MONDO:0002096 "NCIT:C4550" MONDO:0002096 "EFO:1000204" -MONDO:0001340 "ICD10:C38.0" MONDO:0001340 "ICD9:164.1" MONDO:0001340 "NCIT:C3081" MONDO:0001340 "DOID:117" MONDO:0001340 "NCIT:C3548" MONDO:0001340 "MESH:D006338" MONDO:0000784 "DOID:0060509" -MONDO:0007243 "ICD10:C83.70" MONDO:0007243 "DOID:8584" MONDO:0007243 "ICD9:200.2" MONDO:0007243 "Orphanet:543" -MONDO:0007243 "ICD10:C83.7" MONDO:0007243 "ICDO:9687/3" MONDO:0007243 "UMLS:C0006413" MONDO:0007243 "MESH:D002051" @@ -15143,20 +14779,19 @@ MONDO:0005627 "NCIT:C4013" MONDO:0005627 "UMLS:C0018671" MONDO:0024294 "MESH:D012874" MONDO:0001730 "UMLS:C0156279" -MONDO:0001730 "ICD10:N34.3" MONDO:0001730 "ICD9:597.81" MONDO:0001730 "DOID:13498" MONDO:0001730 "SCTID:31273004" MONDO:0009369 "Orphanet:363999" +MONDO:0009369 "ICD10CM:P56.9" MONDO:0009369 "Orphanet:163596" MONDO:0009369 "NCIT:C111905" MONDO:0009369 "Orphanet:1041" MONDO:0009369 "ICD9:778.0" +MONDO:0009369 "ICD10CM:P83.2" MONDO:0009369 "UMLS:C0455988" -MONDO:0009369 "ICD10:P56.9" MONDO:0009369 "OMIM:236750" MONDO:0009369 "EFO:0009051" -MONDO:0009369 "ICD10:P83.2" MONDO:0009369 "SCTID:276509008" MONDO:0030029 "OMIM:618870" MONDO:0002813 "UMLS:C0346117" @@ -15168,10 +14803,10 @@ CL:0000216 "BTO:0001238" CL:0000216 "FMA:72298" CL:0000216 "CALOHA:TS-0922" CL:0000216 "VHOG:0001348" +MONDO:0014282 "ICD10CM:G11.4" MONDO:0014282 "UMLS:C3810160" MONDO:0014282 "Orphanet:401849" MONDO:0014282 "DOID:0110817" -MONDO:0014282 "ICD10:G11.4" MONDO:0014282 "OMIM:615625" MONDO:0011896 "UMLS:C1843211" MONDO:0011896 "MESH:C564345" @@ -15191,6 +14826,7 @@ MONDO:0011037 "DOID:0111682" MONDO:0011037 "GARD:0004658" MONDO:0011037 "MESH:C537755" MONDO:0011037 "OMIM:601331" +MONDO:0013006 "ICD10CM:E23.0" MONDO:0013006 "OMIM:612781" MONDO:0013006 "Orphanet:631" MONDO:0013006 "DOID:0060874" @@ -15198,7 +14834,6 @@ MONDO:0013006 "GARD:0003919" MONDO:0013006 "Orphanet:231671" MONDO:0013006 "MESH:C567564" MONDO:0013006 "UMLS:C2748571" -MONDO:0013006 "ICD10:E23.0" MONDO:0009881 "SCTID:27270004" MONDO:0009881 "MESH:C562705" MONDO:0009881 "GARD:0010607" @@ -15207,7 +14842,7 @@ MONDO:0009881 "OMIM:262710" MONDO:0009881 "UMLS:C0271575" MONDO:0004868 "ICD9:576.9" MONDO:0004868 "MESH:D001660" -MONDO:0004868 "ICD10:K83.9" +MONDO:0004868 "ICD10CM:K80-K87" MONDO:0004868 "DOID:9741" MONDO:0004868 "SCTID:105997008" MONDO:0006231 "UMLS:C3272802" @@ -15219,7 +14854,7 @@ MONDO:0000971 "SCTID:448270009" MONDO:0000971 "ICD9:214.8" MONDO:0000971 "UMLS:C1332932" MONDO:0009748 "UMLS:C4303565" -MONDO:0009748 "ICD10:G60.8" +MONDO:0009748 "ICD10CM:G60.8" MONDO:0009748 "SCTID:717827000" MONDO:0009748 "UMLS:C1850395" MONDO:0009748 "OMIM:256840" @@ -15234,7 +14869,7 @@ NCBITaxon:6199 "GC_ID:1" MONDO:0032898 "OMIM:618751" MONDO:0015488 "Orphanet:156140" MONDO:0017621 "Orphanet:306474" -MONDO:0017621 "ICD10:E74.3" +MONDO:0017621 "ICD10CM:E74.3" MONDO:0023157 "GARD:0002333" HP:0012759 "UMLS:C4022737" MONDO:0012478 "Orphanet:1991" @@ -15246,14 +14881,14 @@ MONDO:0011224 "MESH:C538253" MONDO:0011224 "GARD:0009697" MONDO:0011224 "UMLS:C1865384" MONDO:0011224 "MedDRA:10069681" -MONDO:0011224 "ICD10:G12.8" MONDO:0011224 "EFO:1001989" MONDO:0011224 "Orphanet:65684" +MONDO:0011224 "ICD10CM:G12.8" MONDO:0011224 "OMIM:602440" MONDO:0003545 "UMLS:C1334255" MONDO:0003545 "NCIT:C5135" MONDO:0003545 "DOID:5615" -MONDO:0017667 "ICD10:Q82.8" +MONDO:0017667 "ICD10CM:Q82.8" MONDO:0017667 "UMLS:C0022584" MONDO:0017667 "Orphanet:307148" MONDO:0008989 "GARD:0009949" @@ -15266,13 +14901,12 @@ MONDO:0007672 "MedDRA:10018381" MONDO:0007672 "UMLS:C1841984" MONDO:0007672 "Orphanet:83454" MONDO:0007672 "SCTID:715644000" +MONDO:0007672 "ICD10CM:Q27.8" MONDO:0007672 "UMLS:C1333987" MONDO:0007672 "DOID:7996" -MONDO:0007672 "ICD10:Q27.8" MONDO:0007672 "MESH:C536827" MONDO:0044278 "OMIMPS:612975" MONDO:0014657 "OMIM:616481" -MONDO:0014657 "ICD10:Q34.8" MONDO:0014657 "Orphanet:244" MONDO:0014657 "UMLS:C4225311" MONDO:0014657 "DOID:0110603" @@ -15292,11 +14926,10 @@ MONDO:0004577 "HP:0200020" MONDO:0004577 "NCIT:C50515" MONDO:0004577 "ICD9:370.00" MONDO:0004577 "ICD9:370.0" -MONDO:0004577 "ICD10:H16.00" -MONDO:0004577 "ICD10:H16.0" MONDO:0004577 "SCTID:91514001" MONDO:0004577 "DOID:8463" MONDO:0004577 "UMLS:C0010043" +MONDO:0004577 "ICD10CM:H16.0" MONDO:0004577 "MESH:D003320" NCBITaxon:36831 "PMID:8863443" NCBITaxon:36831 "GC_ID:11" @@ -15312,15 +14945,15 @@ NCBITaxon:543769 "GC_ID:1" MONDO:0011445 "OMIM:604360" MONDO:0011445 "GARD:0004919" MONDO:0011445 "DOID:0110764" -MONDO:0011445 "ICD10:G11.4" MONDO:0011445 "SCTID:715491000" +MONDO:0011445 "ICD10CM:G11.4" MONDO:0011445 "NCIT:C148317" MONDO:0011445 "Orphanet:2822" MONDO:0018249 "Orphanet:369979" -MONDO:0018249 "ICD10:Q87.2" +MONDO:0018249 "ICD10CM:Q87.2" MONDO:0018249 "UMLS:CN204822" +MONDO:0013645 "ICD10CM:G11.1" MONDO:0013645 "UMLS:C3280226" -MONDO:0013645 "ICD10:G11.1" MONDO:0013645 "Orphanet:284271" MONDO:0013645 "OMIM:614229" MONDO:0013645 "DOID:0080063" @@ -15334,9 +14967,9 @@ MONDO:0003892 "NCIT:C5649" MONDO:0003892 "UMLS:C1332137" MONDO:0003892 "DOID:6482" MONDO:0015722 "Orphanet:98434" +MONDO:0015722 "ICD10CM:D68.2" MONDO:0015722 "OMIMPS:277450" MONDO:0015722 "Orphanet:169826" -MONDO:0015722 "ICD10:D68.2" MONDO:0009430 "UMLS:C0342643" MONDO:0009430 "OMIM:241520" MONDO:0009430 "MESH:C562792" @@ -15344,6 +14977,7 @@ MONDO:0009430 "Orphanet:289176" MONDO:0013093 "Orphanet:360" MONDO:0013093 "OMIM:613029" MONDO:0013093 "Orphanet:182067" +MONDO:0043195 "OMIM:180850" MONDO:0043195 "MESH:C535877" MONDO:0043195 "GARD:0004745" MONDO:0043195 "UMLS:C2931052" @@ -15379,9 +15013,9 @@ MONDO:0015076 "Orphanet:100090" MONDO:0012027 "OMIM:608391" MONDO:0009313 "UMLS:C2931551" MONDO:0009313 "GARD:0002576" +MONDO:0009313 "ICD10CM:Q87.8" MONDO:0009313 "Orphanet:2101" MONDO:0009313 "MESH:C537621" -MONDO:0009313 "ICD10:Q87.8" MONDO:0009313 "OMIM:233810" MONDO:0021320 "ICD9:144.8" MONDO:0021320 "NCIT:C9318" @@ -15398,32 +15032,31 @@ MONDO:0013490 "UMLS:C3151355" MONDO:0013490 "DOID:0080318" MONDO:0013490 "OMIM:613925" MONDO:0016478 "Orphanet:231130" -MONDO:0016478 "ICD10:Q87.3" +MONDO:0016478 "ICD10CM:Q87.3" MONDO:0016478 "UMLS:CN201473" MONDO:0014132 "Orphanet:289573" MONDO:0014132 "UMLS:C3809165" +MONDO:0014132 "ICD10CM:G31.8" MONDO:0014132 "Orphanet:363424" MONDO:0014132 "DOID:0080135" -MONDO:0014132 "ICD10:G31.8" MONDO:0014132 "OMIM:615330" MONDO:0025270 "UMLS:C0040559" MONDO:0025270 "MESH:D014124" MONDO:0002815 "UMLS:C0155686" -MONDO:0002815 "ICD9:422.99" MONDO:0002815 "DOID:3951" +MONDO:0002815 "ICD9:422.99" MONDO:0002815 "NCIT:C35206" MONDO:0002815 "ICD9:422.90" -MONDO:0002815 "ICD10:I40" +MONDO:0002815 "ICD10CM:I40" MONDO:0002815 "ICD9:422" -MONDO:0002815 "ICD10:I40.9" MONDO:0002815 "SCTID:46701001" MONDO:0000563 "DOID:0050988" MONDO:0019854 "Orphanet:95712" -MONDO:0019854 "ICD10:E03.1" +MONDO:0019854 "ICD10CM:E03.1" MONDO:0019854 "OMIM:225250" MONDO:0019854 "OMIM:218700" MONDO:0008301 "UMLS:C1867801" -MONDO:0008301 "ICD10:Q87.2" +MONDO:0008301 "ICD10CM:Q87.2" MONDO:0008301 "GARD:0004470" MONDO:0008301 "MESH:C538278" MONDO:0008301 "Orphanet:2957" @@ -15431,14 +15064,13 @@ MONDO:0008301 "SCTID:722452004" MONDO:0008301 "OMIM:176305" MONDO:0008301 "DOID:0111544" MONDO:0013468 "UMLS:C3151227" -MONDO:0013468 "ICD10:H35.5" MONDO:0013468 "OMIM:613861" MONDO:0013468 "DOID:0110352" MONDO:0011194 "UMLS:C1865868" MONDO:0011194 "MESH:C566578" MONDO:0011194 "DOID:0110037" -MONDO:0011194 "ICD10:G30" MONDO:0011194 "OMIM:602096" +MONDO:0011194 "ICD10CM:G30" MONDO:0022761 "UMLS:C2931333" MONDO:0022761 "MESH:C536803" MONDO:0018657 "UMLS:CN237716" @@ -15447,11 +15079,11 @@ MONDO:0018657 "Orphanet:447961" MONDO:0007104 "Orphanet:90020" MONDO:0007104 "OMIM:105500" MONDO:0007104 "GARD:0009239" -MONDO:0007104 "ICD10:G12.2" +MONDO:0007104 "ICD10CM:G12.2" MONDO:0020858 "OMIM:618120" MONDO:0013373 "OMIM:613697" -MONDO:0013373 "ICD10:I42.0" MONDO:0013373 "MESH:C566856" +MONDO:0013373 "ICD10CM:I42.0" MONDO:0013373 "DOID:0110427" MONDO:0013373 "UMLS:C3150958" MONDO:0009022 "MESH:D061085" @@ -15461,10 +15093,10 @@ MONDO:0009022 "NCIT:C98905" MONDO:0009022 "GARD:0001535" MONDO:0010299 "MESH:C562583" MONDO:0010299 "OMIM:300323" -MONDO:0010299 "ICD10:E79.8" MONDO:0010299 "Orphanet:79233" MONDO:0010299 "UMLS:C0268117" MONDO:0010299 "SCTID:238007004" +MONDO:0010299 "ICD10CM:E79.8" MONDO:0010299 "ICD9:277.2" MONDO:0004009 "NCIT:C6186" MONDO:0004009 "DOID:6844" @@ -15489,13 +15121,13 @@ MONDO:0004521 "DOID:8282" MONDO:0004521 "UMLS:C0279545" MONDO:0016712 "NCIT:C54039" MONDO:0016712 "Orphanet:251867" -MONDO:0016712 "ICD10:C71.6" +MONDO:0016712 "ICD10CM:C71.6" MONDO:0016712 "UMLS:C1707400" MONDO:0016712 "OMIM:155255" MONDO:0016712 "SCTID:699704002" -MONDO:0020375 "ICD10:Q12.0" MONDO:0020375 "UMLS:CN207246" MONDO:0020375 "OMIM:115800" +MONDO:0020375 "ICD10CM:Q12.0" MONDO:0020375 "Orphanet:98990" MONDO:0010486 "UMLS:C3806745" MONDO:0010486 "Orphanet:659" @@ -15505,7 +15137,6 @@ MONDO:0006700 "DOID:12759" MONDO:0006700 "EFO:1000866" MONDO:0006700 "MESH:D002830" MONDO:0006700 "NCIT:C3566" -MONDO:0006700 "ICD10:C69.3" MONDO:0006700 "SCTID:363466008" MONDO:0006700 "ICD9:190.6" MONDO:0006700 "MedDRA:10057405" @@ -15516,7 +15147,6 @@ MONDO:0005962 "SCTID:17653001" MONDO:0005962 "UMLS:C0041324" MONDO:0005962 "DOID:1639" MONDO:0005962 "ICD9:015" -MONDO:0005962 "ICD10:A18.0" MONDO:0005962 "ICD9:015.9" MONDO:0005962 "MESH:D014394" MONDO:0002312 "SCTID:78999002" @@ -15527,9 +15157,9 @@ MONDO:0002312 "DOID:2473" MONDO:0011090 "SCTID:733091002" MONDO:0011090 "UMLS:C4518577" MONDO:0011090 "OMIMPS:601471" -MONDO:0011090 "ICD10:Q87.0" MONDO:0011090 "OMIM:601471" MONDO:0011090 "MESH:C563309" +MONDO:0011090 "ICD10CM:Q87.0" MONDO:0011090 "GARD:0008583" MONDO:0011090 "Orphanet:306527" MONDO:0000151 "SCTID:253975004" @@ -15542,18 +15172,18 @@ MONDO:0012830 "Orphanet:276413" MONDO:0012830 "DOID:0060389" MONDO:0012830 "OMIM:612242" MONDO:0012830 "Orphanet:2929" +MONDO:0012830 "ICD10CM:Q93.5" MONDO:0012830 "MESH:C567385" MONDO:0012830 "UMLS:CN202618" MONDO:0012830 "Orphanet:79076" MONDO:0012830 "UMLS:C2677102" -MONDO:0012830 "ICD10:Q93.5" MONDO:0012830 "GARD:0013018" MONDO:0030927 "OMIM:619178" MONDO:0016883 "NCIT:C36501" MONDO:0016883 "Orphanet:261857" -MONDO:0016883 "ICD10:Q93.5" MONDO:0016883 "GARD:0003730" MONDO:0016883 "UMLS:C0795796" +MONDO:0016883 "ICD10CM:Q93.5" MONDO:0016883 "MESH:C535591" HP:0000739 "MSH:D001007" HP:0000739 "SNOMEDCT_US:48694002" @@ -15562,12 +15192,12 @@ HP:0000739 "UMLS:C0003467" MONDO:0014945 "OMIM:617158" MONDO:0014945 "UMLS:CN239822" NCBITaxon:10232 "GC_ID:1" -MONDO:0008692 "ICD10:E78.6" MONDO:0008692 "UMLS:C0000744" MONDO:0008692 "MESH:D000012" MONDO:0008692 "GARD:0000005" MONDO:0008692 "NCIT:C84525" MONDO:0008692 "OMIM:200100" +MONDO:0008692 "ICD10CM:E78.6" MONDO:0008692 "DOID:1386" MONDO:0008692 "Orphanet:14" MONDO:0008692 "SCTID:190787008" @@ -15585,8 +15215,8 @@ MONDO:0003753 "NCIT:C4369" MONDO:0007495 "OMIM:128230" MONDO:0007495 "UMLS:CN207122" MONDO:0007495 "SCTID:715768000" -MONDO:0007495 "ICD10:G24.1" MONDO:0007495 "UMLS:C1851920" +MONDO:0007495 "ICD10CM:G24.1" MONDO:0007495 "Orphanet:98808" MONDO:0007495 "GARD:0012144" MONDO:0007495 "DOID:0090043" @@ -15598,9 +15228,9 @@ MONDO:0022293 "ICD9:607.82" MONDO:0022293 "UMLS:C0156307" NCBITaxon:33278 "GC_ID:1" MONDO:0019446 "Orphanet:86795" -MONDO:0019446 "ICD10:L98.5" MONDO:0019446 "GARD:0007321" MONDO:0019446 "UMLS:C0263390" +MONDO:0019446 "ICD10CM:L98.5" MONDO:0030362 "OMIM:619487" MONDO:0000636 "DOID:0060099" MONDO:0024472 "Orphanet:83313" @@ -15609,7 +15239,7 @@ MONDO:0024472 "ICD9:082.1" MONDO:0024472 "UMLS:C0006060" MONDO:0024472 "Orphanet:101334" MONDO:0024472 "DOID:14095" -MONDO:0024472 "ICD10:A77.1" +MONDO:0024472 "ICD10CM:A77.1" MONDO:0024472 "SCTID:186774005" MONDO:0024472 "MESH:D001907" MONDO:0024472 "EFO:0007179" @@ -15617,6 +15247,7 @@ MONDO:0015241 "SCTID:702447002" MONDO:0015241 "ICD9:719.89" MONDO:0015241 "Orphanet:1149" MONDO:0015241 "GARD:0003150" +MONDO:0015241 "OMIM:208200" MONDO:0015241 "GARD:0000783" MONDO:0011289 "OMIM:603119" MONDO:0002994 "DOID:4433" @@ -15641,11 +15272,11 @@ MONDO:0007711 "MESH:C564199" MONDO:0007711 "SCTID:733046006" MONDO:0007711 "UMLS:C1841640" MONDO:0007711 "GARD:0002633" -MONDO:0007711 "ICD10:Q67.4" +MONDO:0007711 "ICD10CM:Q67.4" MONDO:0007711 "Orphanet:1241" MONDO:0007711 "OMIM:141350" -MONDO:0016990 "ICD10:D68.4" MONDO:0016990 "Orphanet:26348" +MONDO:0016990 "ICD10CM:D68.4" MONDO:0016990 "NCIT:C131622" MONDO:0016990 "GARD:0000475" MONDO:0016990 "UMLS:C0392610" @@ -15662,24 +15293,21 @@ MONDO:0012550 "OMIM:610744" MONDO:0007757 "OMIM:144190" MONDO:0007757 "Orphanet:1336" MONDO:0007757 "MESH:C564172" -MONDO:0007757 "ICD10:Q82.8" +MONDO:0007757 "ICD10CM:Q82.8" MONDO:0007757 "UMLS:C1840428" NCBITaxon:7147 "GC_ID:1" HP:0001889 "UMLS:C0002888" HP:0001889 "SNOMEDCT_US:53165003" HP:0001889 "MSH:D000749" -MONDO:0016304 "ICD10:G23.0" +MONDO:0016304 "ICD10CM:G23.0" MONDO:0016304 "UMLS:CN201109" MONDO:0016304 "Orphanet:216866" -MONDO:0006952 "ICD10:H35.1" MONDO:0006952 "Orphanet:90050" MONDO:0006952 "DOID:13025" MONDO:0006952 "MedDRA:10038933" -MONDO:0006952 "ICD10:H35.17" MONDO:0006952 "UMLS:C0035344" MONDO:0006952 "GARD:0005695" MONDO:0006952 "MESH:D012178" -MONDO:0006952 "ICD10:H35.10" MONDO:0006952 "SCTID:415297005" MONDO:0006952 "OMIM:133780" MONDO:0006952 "ICD9:362.21" @@ -15700,11 +15328,9 @@ MONDO:0000082 "UMLS:C0877015" MONDO:0000082 "MESH:D056887" MONDO:0000082 "SCTID:237113009" PO:0008028 "PO_GIT:36" -MONDO:0002282 "ICD10:A92.30" MONDO:0002282 "DOID:2366" MONDO:0002282 "ICD9:066.40" MONDO:0002282 "SCTID:417093003" -MONDO:0002282 "ICD10:A92.3" MONDO:0002282 "MESH:D014901" MONDO:0002282 "ICD9:066.4" NCBITaxon:1654 "GC_ID:11" @@ -15714,9 +15340,9 @@ MONDO:0013991 "OMIM:614962" MONDO:0013991 "DOID:0111334" MONDO:0013991 "GARD:0013015" MONDO:0013991 "Orphanet:66628" -MONDO:0013991 "ICD10:E66.8" +MONDO:0013991 "ICD10CM:E66.8" MONDO:0017929 "SCTID:734031008" -MONDO:0017929 "ICD10:H47.4" +MONDO:0017929 "ICD10CM:H47.4" MONDO:0017929 "Orphanet:324353" MONDO:0021351 "UMLS:C0027533" MONDO:0021351 "ICD9:239.89" @@ -15734,28 +15360,27 @@ MONDO:0009686 "UMLS:C1850807" MONDO:0009686 "MESH:C564980" MONDO:0009686 "OMIM:254150" MONDO:0009339 "UMLS:C1856127" +MONDO:0009339 "ICD10CM:K76.8" MONDO:0009339 "Orphanet:79303" -MONDO:0009339 "ICD10:K76.8" MONDO:0009339 "OMIM:235555" MONDO:0009339 "GARD:0010045" MONDO:0009339 "DOID:0111069" MONDO:0009339 "MESH:C535443" MONDO:0015935 "Orphanet:182127" MONDO:0015935 "MedDRA:10018207" -MONDO:0020154 "ICD10:Q10.3" +MONDO:0020154 "ICD10CM:Q10.3" MONDO:0020154 "UMLS:CN237783" MONDO:0020154 "Orphanet:98563" MONDO:0013178 "DOID:0110640" MONDO:0013178 "Orphanet:157973" +MONDO:0013178 "ICD10CM:G71.2" MONDO:0013178 "GARD:0012585" -MONDO:0013178 "ICD10:G71.2" MONDO:0013178 "UMLS:C2750785" MONDO:0013178 "MESH:C567708" MONDO:0013178 "NCIT:C148369" MONDO:0013178 "OMIM:613205" MONDO:0002586 "ICD9:164.0" MONDO:0002586 "UMLS:C0751552" -MONDO:0002586 "ICD10:C37" MONDO:0002586 "DOID:3277" MONDO:0002586 "SCTID:363434003" MONDO:0002586 "NCIT:C4962" @@ -15770,11 +15395,11 @@ MONDO:0010651 "OMIM:309400" MONDO:0010651 "GARD:0001521" MONDO:0010651 "SCTID:59178007" MONDO:0010651 "MedDRA:10027294" +MONDO:0010651 "ICD10CM:E83.0" MONDO:0010651 "NCIT:C75486" MONDO:0010651 "MESH:D007706" MONDO:0010651 "DOID:1838" MONDO:0010651 "UMLS:C0022716" -MONDO:0010651 "ICD10:E83.0" MONDO:0010651 "Orphanet:565" MONDO:0010651 "ICD9:759.89" MONDO:0008284 "OMIM:175505" @@ -15785,6 +15410,7 @@ MONDO:0004040 "NCIT:C39859" MONDO:0004040 "UMLS:C1511190" MONDO:0004040 "SCTID:447765004" MONDO:0016107 "Orphanet:206647" +MONDO:0016107 "ICD10CM:G71.1" MONDO:0016107 "ICD9:359.2" MONDO:0016107 "SCTID:240104008" MONDO:0016107 "MedDRA:10068871" @@ -15793,7 +15419,6 @@ MONDO:0016107 "UMLS:C0027126" MONDO:0016107 "DOID:450" MONDO:0016107 "NCIT:C84914" MONDO:0016107 "MESH:D009223" -MONDO:0016107 "ICD10:G71.1" MONDO:0016107 "OMIMPS:160900" MONDO:0003988 "NCIT:C6716" MONDO:0003988 "DOID:6762" @@ -15801,8 +15426,8 @@ MONDO:0003988 "UMLS:C1336504" MONDO:0008503 "SCTID:716335003" MONDO:0008503 "OMIM:185480" MONDO:0008503 "MESH:C536747" +MONDO:0008503 "ICD10CM:G80.8" MONDO:0008503 "Orphanet:3465" -MONDO:0008503 "ICD10:G80.8" MONDO:0008503 "UMLS:C0796204" MONDO:0008503 "GARD:0005598" MONDO:0024275 "NCIT:C34558" @@ -15820,7 +15445,6 @@ MONDO:0001403 "SCTID:363446004" MONDO:0001403 "UMLS:C0496814" MONDO:0001403 "ICD9:184.1" MONDO:0001403 "NCIT:C7638" -MONDO:0001403 "ICD10:C51.0" MONDO:0001403 "DOID:11905" MONDO:0007306 "OMIM:118100" MONDO:0007306 "UMLS:C1861689" @@ -15841,28 +15465,28 @@ MONDO:0022800 "HGNC:2200" MONDO:0022800 "Orphanet:93421" MONDO:0008471 "MedDRA:10062920" MONDO:0008471 "GARD:0004987" -MONDO:0008471 "ICD10:Q77.7" MONDO:0008471 "DOID:14789" MONDO:0008471 "ICD9:756.9" MONDO:0008471 "OMIM:183900" MONDO:0008471 "Orphanet:94068" MONDO:0008471 "MESH:C535788" MONDO:0008471 "SCTID:278713008" +MONDO:0008471 "ICD10CM:Q77.7" MONDO:0005481 "SCTID:93419003" MONDO:0005481 "EFO:0005320" MONDO:0005481 "UMLS:C0684345" MONDO:0016422 "ICD9:258.1" -MONDO:0016422 "ICD10:E31.0" MONDO:0016422 "Orphanet:227982" MONDO:0016422 "UMLS:C1535942" MONDO:0016422 "GARD:0010980" MONDO:0016422 "UMLS:C3266027" MONDO:0016422 "SCTID:449731009" +MONDO:0016422 "ICD10CM:E31.0" MONDO:0017980 "Orphanet:3262" MONDO:0017980 "GARD:0005092" MONDO:0008998 "Orphanet:191" MONDO:0008998 "OMIM:216400" -MONDO:0008998 "ICD10:Q87.8" +MONDO:0008998 "ICD10CM:Q87.8" MONDO:0008998 "Orphanet:90324" MONDO:0008998 "GARD:0001417" MONDO:0008998 "OMIM:216411" @@ -15875,11 +15499,11 @@ MONDO:0013412 "OMIM:613765" MONDO:0013412 "UMLS:C1861065" MONDO:0013412 "MESH:C566044" MONDO:0013412 "DOID:0110315" -MONDO:0007946 "ICD10:Q07.8" MONDO:0007946 "SCTID:5127009" MONDO:0007946 "Orphanet:91412" MONDO:0007946 "MESH:C535908" MONDO:0007946 "UMLS:C0266521" +MONDO:0007946 "ICD10CM:Q07.8" MONDO:0007946 "ICD9:374.43" MONDO:0007946 "OMIM:154600" MONDO:0007946 "ICD9:742.8" @@ -15890,15 +15514,14 @@ MONDO:0011948 "Orphanet:97249" MONDO:0011948 "UMLS:C1842687" MONDO:0011948 "MESH:C548072" MONDO:0011948 "GARD:0010708" -MONDO:0011948 "ICD10:Q04.3" MONDO:0011948 "OMIM:608027" MONDO:0011948 "DOID:0060272" MONDO:0011948 "SCTID:718609003" +MONDO:0011948 "ICD10CM:Q04.3" MONDO:0032939 "OMIM:618825" MONDO:0015020 "UMLS:C4310619" MONDO:0015020 "OMIM:617323" MONDO:0011068 "OMIM:601388" -MONDO:0011068 "ICD10:E10" MONDO:0011068 "DOID:0110751" MONDO:0011068 "UMLS:C1832392" MONDO:0011068 "MESH:C563326" @@ -15913,6 +15536,7 @@ MONDO:0002135 "NCIT:C79698" MONDO:0002135 "SCTID:77157004" MONDO:0002135 "DOID:1891" MONDO:0002135 "MESH:D009901" +MONDO:0002135 "ICD10CM:H46-H47" MONDO:0002135 "ICD9:377.9" MONDO:0020577 "NCIT:C114801" MONDO:0020577 "UMLS:C3899657" @@ -15927,29 +15551,27 @@ MONDO:0017708 "MedDRA:10072221" MONDO:0017708 "Orphanet:309025" MONDO:0012400 "DOID:0090130" MONDO:0012400 "Orphanet:221150" -MONDO:0012400 "ICD10:Q04.8" +MONDO:0012400 "ICD10CM:Q04.8" MONDO:0012400 "Orphanet:163681" MONDO:0012400 "UMLS:C1864887" MONDO:0012400 "NCIT:C133743" MONDO:0012400 "OMIM:610042" MONDO:0001397 "SCTID:128189008" MONDO:0001397 "DOID:1188" -MONDO:0001397 "ICD10:G58.9" MONDO:0001397 "MESH:D020422" +MONDO:0001397 "ICD10CM:G50-G59" MONDO:0001397 "UMLS:C0494491" MONDO:0009118 "MESH:C565621" MONDO:0009118 "UMLS:C1857229" MONDO:0009118 "OMIM:223300" MONDO:0004773 "UMLS:C0022073" MONDO:0004773 "ICD9:364.01" -MONDO:0004773 "ICD10:H20.01" MONDO:0004773 "SCTID:77971008" MONDO:0004773 "ICD9:364.2" MONDO:0004773 "ICD9:364.3" MONDO:0004773 "HP:0001094" MONDO:0004773 "NCIT:C34736" MONDO:0004773 "DOID:9383" -MONDO:0011383 "ICD10:D47.9" MONDO:0011383 "MESH:C565833" MONDO:0011383 "Orphanet:3261" MONDO:0011383 "DOID:0110115" @@ -15959,15 +15581,15 @@ MONDO:0011383 "OMIM:603909" MONDO:0011383 "UMLS:C1519709" MONDO:0013583 "OMIM:614115" MONDO:0013583 "UMLS:C3279875" -MONDO:0013583 "ICD10:Q04.3" MONDO:0013583 "Orphanet:280640" +MONDO:0013583 "ICD10CM:Q04.3" MONDO:0012856 "GARD:0010358" MONDO:0012856 "DOID:0050675" MONDO:0012856 "OMIM:612292" MONDO:0012856 "SCTID:764861005" MONDO:0012856 "MESH:C567357" MONDO:0012856 "UMLS:C2676770" -MONDO:0012856 "ICD10:Q87.8" +MONDO:0012856 "ICD10CM:Q87.8" MONDO:0012856 "Orphanet:166108" HP:0100584 "UMLS:C0014118" HP:0100584 "MSH:D004696" @@ -15976,8 +15598,8 @@ MONDO:0013802 "Orphanet:313850" MONDO:0013802 "DOID:0050883" MONDO:0013802 "UMLS:C3281192" MONDO:0013802 "GARD:0013264" -MONDO:0013802 "ICD10:E88.8" MONDO:0013802 "OMIM:614559" +MONDO:0013802 "ICD10CM:E88.8" MONDO:0019269 "HP:0008064" MONDO:0019269 "NCIT:C84776" MONDO:0019269 "MedDRA:10021198" @@ -15987,8 +15609,8 @@ MONDO:0019269 "UMLS:C0020757" MONDO:0019269 "DOID:1697" MONDO:0004617 "DOID:8619" MONDO:0004617 "SCTID:426451004" -MONDO:0004617 "ICD10:G47.13" MONDO:0004617 "ICD9:327.13" +MONDO:0004617 "ICD10CM:G47.13" MONDO:0004617 "UMLS:C0751226" MONDO:0035362 "Orphanet:597201" MONDO:0009274 "SCTID:389214003" @@ -15997,26 +15619,25 @@ MONDO:0009274 "ICD9:756.59" MONDO:0009274 "GARD:0010297" MONDO:0009274 "Orphanet:1802" MONDO:0009274 "MESH:C565551" +MONDO:0017225 "ICD10CM:E75.2" MONDO:0017225 "UMLS:CN202707" MONDO:0017225 "Orphanet:280234" -MONDO:0017225 "ICD10:E75.2" MONDO:0008106 "MESH:C537854" MONDO:0008106 "GARD:0009599" MONDO:0008106 "OMIM:164100" -NCBITaxon:2682482 "GC_ID:1" HP:0030681 "UMLS:C4073289" +NCBITaxon:2682482 "GC_ID:1" MONDO:0031219 "OMIMPS:276300" MONDO:0010371 "OMIM:300600" MONDO:0010371 "MESH:C562664" MONDO:0010371 "SCTID:266455006" +MONDO:0010371 "ICD10CM:H35.5" MONDO:0010371 "UMLS:C0268505" MONDO:0010371 "DOID:0050630" MONDO:0010371 "GARD:0010574" MONDO:0010371 "Orphanet:178333" -MONDO:0010371 "ICD10:H35.5" MONDO:0041447 "UMLS:C0346974" MONDO:0041447 "NCIT:C8411" -MONDO:0001006 "ICD10:H47.23" MONDO:0001006 "ICD9:377.14" MONDO:0001006 "UMLS:C0271342" MONDO:0001006 "SCTID:1207009" @@ -16032,16 +15653,15 @@ MONDO:0033370 "DOID:0080434" MONDO:0015937 "UMLS:CN200527" MONDO:0015937 "Orphanet:182214" MONDO:0044709 "Orphanet:502305" -MONDO:0044200 "ICD10:D81.2" MONDO:0044200 "Orphanet:317416" MONDO:0016968 "GARD:0005324" MONDO:0016968 "MESH:C538308" MONDO:0016968 "Orphanet:262977" MONDO:0016968 "UMLS:C0809935" MONDO:0017193 "UMLS:CN202633" -MONDO:0017193 "ICD10:Q87.0" MONDO:0017193 "Orphanet:276630" -MONDO:0016170 "ICD10:G61.8" +MONDO:0017193 "ICD10CM:Q87.0" +MONDO:0016170 "ICD10CM:G61.8" MONDO:0016170 "Orphanet:208978" MONDO:0002807 "EFO:1000849" MONDO:0002807 "DOID:3906" @@ -16053,7 +15673,6 @@ MONDO:0005260 "MESH:D001321" MONDO:0005260 "OMIM:209850" MONDO:0005260 "EFO:0003758" MONDO:0005260 "DOID:12849" -MONDO:0005260 "ICD10:F84.0" MONDO:0005260 "HP:0000717" MONDO:0005260 "NCIT:C97161" MONDO:0005260 "ICD9:299.0" @@ -16063,7 +15682,6 @@ MONDO:0022096 "SCTID:200722003" MONDO:0022096 "MESH:D017789" MONDO:0018666 "ICDO:8970/3" MONDO:0018666 "GARD:0002657" -MONDO:0018666 "ICD10:C22.2" MONDO:0018666 "UMLS:C0206624" MONDO:0018666 "ONCOTREE:LIHB" MONDO:0018666 "MESH:D018197" @@ -16078,13 +15696,13 @@ MONDO:0009547 "GARD:0000177" MONDO:0009547 "MESH:C537830" MONDO:0009547 "OMIM:248110" MONDO:0009547 "Orphanet:2432" -MONDO:0009547 "ICD10:Q87.0" +MONDO:0009547 "ICD10CM:Q87.0" MONDO:0008777 "UMLS:C0339273" MONDO:0008777 "NCIT:C142805" MONDO:0008777 "DOID:0060449" -MONDO:0008777 "ICD10:H18.5" MONDO:0008777 "Orphanet:98957" MONDO:0008777 "OMIM:204870" +MONDO:0008777 "ICD10CM:H18.5" MONDO:0008777 "GARD:0009647" MONDO:0008777 "MESH:C535480" NCBITaxon:11723 "GC_ID:1" @@ -16092,12 +15710,12 @@ HP:0000479 "UMLS:C0035300" HP:0000479 "SNOMEDCT_US:29555009" HP:0000479 "UMLS:C0035309" HP:0000479 "MSH:D012164" -MONDO:0005127 "ICD10:A30.5" MONDO:0005127 "UMLS:C0023348" MONDO:0005127 "SCTID:21560005" MONDO:0005127 "DOID:10887" MONDO:0005127 "MESH:D015440" MONDO:0005127 "ICD9:030.0" +MONDO:0005127 "ICD10CM:A30.5" MONDO:0005127 "EFO:0001057" NCBITaxon:71583 "GC_ID:1" NCBITaxon:337677 "PMID:15371245" @@ -16108,32 +15726,30 @@ NCBITaxon:1437197 "GC_ID:1" NCBITaxon:2732514 "GC_ID:1" MONDO:0017572 "GARD:0005216" MONDO:0017572 "EFO:1001309" -MONDO:0017572 "ICD10:A84.9" MONDO:0017572 "NCIT:C34579" MONDO:0017572 "MedDRA:10043848" -MONDO:0017572 "ICD10:A84.1" -MONDO:0017572 "ICD10:A84.0" +MONDO:0017572 "ICD10CM:A84.0" +MONDO:0017572 "ICD10CM:A84.1" MONDO:0017572 "UMLS:C0014061" +MONDO:0017572 "ICD10CM:A84.8" MONDO:0017572 "Orphanet:297" +MONDO:0017572 "ICD10CM:A84.9" MONDO:0017572 "MESH:D004675" MONDO:0017572 "ICD9:063.2" MONDO:0017572 "DOID:0050175" -MONDO:0017572 "ICD10:A84.8" -MONDO:0004389 "ICD10:B88.9" MONDO:0004389 "ICD9:133.9" MONDO:0004389 "DOID:7894" MONDO:0004389 "UMLS:C0026229" MONDO:0004389 "MESH:D008924" MONDO:0004389 "SCTID:240885009" -MONDO:0004389 "ICD10:B88.0" MONDO:0004389 "ICD9:133" MONDO:0019698 "SCTID:254095002" MONDO:0019698 "Orphanet:93439" MONDO:0019698 "ICD9:756.59" MONDO:0019698 "UMLS:C0432238" +MONDO:0013132 "ICD10CM:G11.4" MONDO:0013132 "SCTID:723819007" MONDO:0013132 "DOID:0110787" -MONDO:0013132 "ICD10:G11.4" MONDO:0013132 "OMIM:613096" MONDO:0013132 "MESH:C567930" MONDO:0013132 "UMLS:C4510078" @@ -16144,7 +15760,7 @@ MONDO:0003051 "NCIT:C27625" MONDO:0003051 "DOID:4560" MONDO:0003051 "UMLS:C1335061" MONDO:0022802 "GARD:0001429" -MONDO:0007642 "ICD10:Q44.0" +MONDO:0007642 "ICD10CM:Q44.0" MONDO:0007642 "MESH:C562564" MONDO:0007642 "OMIM:137040" MONDO:0007642 "Orphanet:440987" @@ -16164,7 +15780,7 @@ MONDO:0005767 "EFO:0007279" MONDO:0005767 "DOID:9159" MONDO:0005767 "MESH:D005738" MONDO:0005767 "ICD9:040.0" -MONDO:0005767 "ICD10:A48.0" +MONDO:0005767 "ICD10CM:A48.0" MONDO:0005767 "SCTID:80466000" MONDO:0005767 "UMLS:C0017105" CL:0002294 "FMA:72209" @@ -16180,33 +15796,31 @@ MONDO:0008021 "UMLS:C0018553" MONDO:0008021 "Orphanet:2969" MONDO:0008021 "OMIM:158350" MONDO:0008021 "Orphanet:201" -MONDO:0024568 "ICD10:K72.0" -MONDO:0024568 "Orphanet:370088" MONDO:0024568 "OMIM:615438" +MONDO:0024568 "Orphanet:370088" MONDO:0024568 "UMLS:C3809522" MONDO:0024568 "GARD:0013114" +MONDO:0024568 "ICD10CM:K72.0" MONDO:0009392 "OMIM:238950" MONDO:0009392 "MESH:C565497" MONDO:0013015 "UMLS:C2748541" MONDO:0013015 "Orphanet:130" MONDO:0013015 "OMIM:612838" -MONDO:0013015 "ICD10:I49.8" MONDO:0013015 "Orphanet:871" MONDO:0013015 "DOID:0110222" MONDO:0014573 "Orphanet:2050" MONDO:0014573 "OMIM:616294" MONDO:0014573 "UMLS:C4225382" MONDO:0012635 "OMIM:611182" +MONDO:0012635 "ICD10CM:E77.8" MONDO:0012635 "MESH:C566987" MONDO:0012635 "GARD:0012411" MONDO:0012635 "Orphanet:95428" MONDO:0012635 "DOID:0070260" MONDO:0012635 "UMLS:C1970021" -MONDO:0012635 "ICD10:E77.8" MONDO:0012635 "SCTID:717774004" MONDO:0000980 "DOID:10230" MONDO:0000980 "UMLS:C0155733" -MONDO:0000980 "ICD10:I70.0" MONDO:0000980 "SCTID:81817003" MONDO:0000980 "ICD9:440.0" MONDO:0000980 "HP:0012397" @@ -16223,10 +15837,10 @@ MONDO:0020579 "NCIT:C115965" MONDO:0016517 "UMLS:CN201558" MONDO:0016517 "Orphanet:233655" MONDO:0007807 "OMIM:146580" +MONDO:0004891 "ICD10CM:H52.0" MONDO:0004891 "MESH:D006956" MONDO:0004891 "ICD9:367.0" MONDO:0004891 "DOID:9834" -MONDO:0004891 "ICD10:H52.0" MONDO:0004891 "SCTID:38101003" MONDO:0004891 "UMLS:C0020490" NCBITaxon:55824 "GC_ID:1" @@ -16244,7 +15858,6 @@ MONDO:0014189 "UMLS:C3809523" MONDO:0014189 "OMIM:615439" MONDO:0014189 "DOID:0110025" MONDO:0011233 "DOID:0110122" -MONDO:0011233 "ICD10:Q13.8" MONDO:0011233 "Orphanet:782" MONDO:0011233 "ICD9:743.44" MONDO:0011233 "Orphanet:98978" @@ -16254,7 +15867,7 @@ MONDO:0011233 "OMIM:602482" MONDO:0010677 "OMIM:310000" MONDO:0010677 "UMLS:C1839670" MONDO:0010677 "MESH:C564096" -MONDO:0020416 "ICD10:Q25.4" +MONDO:0020416 "ICD10CM:Q25.4" MONDO:0020416 "SCTID:766751007" MONDO:0020416 "Orphanet:99078" MONDO:0021659 "GARD:0005741" @@ -16267,11 +15880,11 @@ MONDO:0012858 "Orphanet:169464" MONDO:0012858 "MESH:C567355" MONDO:0012858 "OMIM:612300" MONDO:0012858 "UMLS:C2676767" -MONDO:0012858 "ICD10:D84.1" -MONDO:0001562 "ICD10:Q40.1" +MONDO:0012858 "ICD10CM:D84.1" MONDO:0001562 "SCTID:47028006" MONDO:0001562 "DOID:12641" MONDO:0001562 "ICD9:750.6" +MONDO:0001562 "ICD10CM:Q40.1" MONDO:0017958 "GARD:0013371" MONDO:0017958 "Orphanet:324972" MONDO:0017958 "UMLS:CN204105" @@ -16289,12 +15902,11 @@ MONDO:0017160 "OMIM:600795" MONDO:0017160 "SCTID:716994006" MONDO:0017160 "UMLS:C4011788" MONDO:0017160 "OMIM:600274" -MONDO:0017160 "ICD10:G31.0" +MONDO:0017160 "ICD10CM:G31.0" MONDO:0002799 "UMLS:C1334970" MONDO:0002799 "NCIT:C5407" MONDO:0002799 "DOID:3873" MONDO:0011591 "OMIM:605749" -MONDO:0011591 "ICD10:Q12.0" MONDO:0011591 "UMLS:C1854003" MONDO:0011591 "DOID:0110246" MONDO:0011591 "Orphanet:98984" @@ -16304,21 +15916,20 @@ MONDO:0060502 "UMLS:C4479631" MONDO:0060502 "Orphanet:521426" MONDO:0060502 "OMIM:617527" MONDO:0010221 "SCTID:720639008" +MONDO:0010221 "ICD10CM:Q87.8" MONDO:0010221 "OMIM:280000" MONDO:0010221 "GARD:0000310" -MONDO:0010221 "ICD10:Q87.8" MONDO:0010221 "Orphanet:3474" MONDO:0010221 "UMLS:C1848392" MONDO:0010221 "MESH:C536729" -MONDO:0010864 "ICD10:E10" MONDO:0010864 "OMIM:600321" MONDO:0010864 "DOID:0110746" MONDO:0010864 "UMLS:C1838259" MONDO:0010864 "MESH:C563957" MONDO:0014680 "Orphanet:1930" MONDO:0014680 "OMIM:616532" -MONDO:0008497 "ICD10:D69.8" MONDO:0008497 "MESH:C566108" +MONDO:0008497 "ICD10CM:D69.8" MONDO:0008497 "SCTID:711407000" MONDO:0008497 "DOID:0060354" MONDO:0008497 "OMIM:185070" @@ -16326,7 +15937,7 @@ MONDO:0008497 "GARD:0005188" MONDO:0008497 "UMLS:C1861451" MONDO:0008497 "ICD9:759.89" MONDO:0008497 "Orphanet:3204" -MONDO:0017004 "ICD10:Q99.8" +MONDO:0017004 "ICD10CM:Q99.8" MONDO:0017004 "Orphanet:263731" NCBITaxon:513042 "GC_ID:1" MONDO:0018562 "Orphanet:435603" @@ -16336,22 +15947,22 @@ MONDO:0010913 "GARD:0006002" MONDO:0010913 "SCTID:717232005" MONDO:0010913 "EFO:1001286" MONDO:0010913 "DOID:0050876" +MONDO:0010913 "ICD10CM:Q44.6" MONDO:0010913 "NCIT:C84619" MONDO:0010913 "UMLS:C1833541" -MONDO:0010913 "ICD10:Q44.6" MONDO:0010913 "UMLS:C0162510" MONDO:0010913 "MedDRA:10013003" MONDO:0010913 "Orphanet:53035" NCBITaxon:43742 "GC_ID:1" -MONDO:0016109 "ICD10:G71.0" +MONDO:0016109 "ICD10CM:G71.0" MONDO:0016109 "UMLS:CN229019" MONDO:0016109 "Orphanet:206653" MONDO:0019642 "OMIM:277440" +MONDO:0019642 "ICD10CM:E83.3" MONDO:0019642 "OMIM:600785" MONDO:0019642 "NCIT:C131077" MONDO:0019642 "SCTID:72831007" MONDO:0019642 "Orphanet:93160" -MONDO:0019642 "ICD10:E83.3" MONDO:0006757 "MedDRA:10008637" MONDO:0006757 "UMLS:C0005398" MONDO:0006757 "MESH:D001651" @@ -16369,7 +15980,7 @@ MONDO:0041161 "NCIT:C3013" MONDO:0041161 "UMLS:C0014173" MONDO:0041161 "SCTID:237072009" MONDO:0018445 "UMLS:CN226190" -MONDO:0018445 "ICD10:Q87.3" +MONDO:0018445 "ICD10CM:Q87.3" MONDO:0018445 "Orphanet:404476" MONDO:0006512 "EFO:1000649" MONDO:0006512 "DOID:0060075" @@ -16378,12 +15989,12 @@ MONDO:0021208 "ICD9:704.09" MONDO:0021208 "SCTID:54539003" MONDO:0020280 "Orphanet:98712" MONDO:0020280 "UMLS:CN207083" -MONDO:0016487 "ICD10:D56.1" MONDO:0016487 "Orphanet:231222" MONDO:0016487 "OMIM:613985" MONDO:0016487 "ICD9:282.49" MONDO:0016487 "SCTID:191189009" MONDO:0016487 "MedDRA:10062923" +MONDO:0016487 "ICD10CM:D56.1" MONDO:0015233 "MESH:C537713" MONDO:0015233 "GARD:0001163" MONDO:0015233 "Orphanet:1123" @@ -16405,14 +16016,14 @@ MONDO:0002274 "UMLS:C0026471" CL:1001599 "BTO:0000028" CL:1001599 "CALOHA:TS-1242" MONDO:0015558 "Orphanet:158778" -MONDO:0015558 "ICD10:C96.2" +MONDO:0015558 "ICD10CM:C96.2" NCBITaxon:33183 "GC_ID:1" NCBITaxon:33183 "PMID:17486980" MONDO:0012637 "OMIM:611209" MONDO:0012637 "MESH:C535756" MONDO:0012637 "GARD:0010226" MONDO:0012637 "Orphanet:263508" -MONDO:0012637 "ICD10:E77.8" +MONDO:0012637 "ICD10CM:E77.8" MONDO:0012637 "DOID:0070259" MONDO:0012637 "SCTID:718750004" MONDO:0001341 "EFO:1001929" @@ -16428,17 +16039,17 @@ MONDO:0001341 "DOID:11701" MONDO:0001341 "OMIM:609529" MONDO:0001341 "MESH:D017098" MONDO:0017737 "Orphanet:309331" +MONDO:0017737 "ICD10CM:E77.8" MONDO:0017737 "UMLS:CN203640" MONDO:0017737 "GARD:0010871" -MONDO:0017737 "ICD10:E77.8" MONDO:0007244 "MESH:D006958" MONDO:0007244 "Orphanet:1310" +MONDO:0007244 "ICD10CM:M89.8" MONDO:0007244 "UMLS:C0020497" MONDO:0007244 "ICD9:756.59" MONDO:0007244 "DOID:4257" MONDO:0007244 "SCTID:24752008" MONDO:0007244 "GARD:0001051" -MONDO:0007244 "ICD10:M89.8" MONDO:0007244 "NCIT:C118423" MONDO:0007244 "OMIM:114000" MONDO:0018811 "Orphanet:480531" @@ -16452,11 +16063,11 @@ MONDO:0005628 "GARD:0009312" MONDO:0005628 "UMLS:C0242787" MONDO:0005628 "UMLS:C0238033" MONDO:0005628 "MESH:D018567" +MONDO:0016674 "ICD10CM:Q56.1" MONDO:0016674 "OMIM:154230" MONDO:0016674 "OMIM:616425" MONDO:0016674 "OMIM:616067" MONDO:0016674 "OMIM:300018" -MONDO:0016674 "ICD10:Q56.1" MONDO:0016674 "OMIM:612965" MONDO:0016674 "OMIM:615542" MONDO:0016674 "OMIM:613762" @@ -16471,15 +16082,13 @@ MONDO:0100133 "MESH:C537475" MONDO:0013796 "GARD:0013296" MONDO:0013796 "SCTID:764435003" MONDO:0013796 "OMIM:614526" -MONDO:0013796 "ICD10:Q92.3" MONDO:0013796 "UMLS:C3281137" MONDO:0013796 "DOID:0060433" MONDO:0013796 "Orphanet:261272" -MONDO:0016162 "ICD10:Q04.3" MONDO:0016162 "OMIM:610031" MONDO:0016162 "GARD:0010783" MONDO:0016162 "Orphanet:208444" -MONDO:0019362 "ICD10:A75.0" +MONDO:0016162 "ICD10CM:Q04.3" MONDO:0019362 "NCIT:C84689" MONDO:0019362 "Orphanet:83314" MONDO:0019362 "DOID:0050480" @@ -16487,14 +16096,15 @@ MONDO:0019362 "MedDRA:10014979" MONDO:0007809 "Orphanet:79504" MONDO:0007809 "ICD9:757.39" MONDO:0007809 "GARD:0009497" +MONDO:0007809 "ICD10CM:Q80.0" MONDO:0007809 "SCTID:254174005" MONDO:0007809 "OMIM:146600" -MONDO:0007809 "ICD10:Q80.0" MONDO:0007809 "MESH:C536087" -MONDO:0018165 "ICD10:G54.0" MONDO:0018165 "SCTID:25981000119102" MONDO:0018165 "UMLS:C1956396" MONDO:0018165 "Orphanet:357131" +MONDO:0018165 "ICD10CM:G54.0" +MONDO:0010679 "ICD10CM:G71.0" MONDO:0010679 "MESH:D020388" MONDO:0010679 "NCIT:C75482" MONDO:0010679 "GARD:0006291" @@ -16502,7 +16112,6 @@ MONDO:0010679 "OMIM:310200" MONDO:0010679 "UMLS:C0013264" MONDO:0010679 "MedDRA:10013801" MONDO:0010679 "Orphanet:98896" -MONDO:0010679 "ICD10:G71.0" MONDO:0010679 "SCTID:76670001" MONDO:0010679 "DOID:11723" MONDO:0017395 "SCTID:73692007" @@ -16510,11 +16119,11 @@ MONDO:0017395 "Orphanet:293812" MONDO:0017395 "MedDRA:10048796" MONDO:0008276 "UMLS:CN204230" MONDO:0008276 "DOID:0050787" -MONDO:0008276 "ICD10:D12.6" +MONDO:0008276 "ICD10CM:D12.6" MONDO:0008276 "Orphanet:2929" MONDO:0008276 "OMIM:174900" MONDO:0008276 "Orphanet:329971" -MONDO:0015779 "ICD10:Q98.7" +MONDO:0015779 "ICD10CM:Q98.7" MONDO:0015779 "DOID:0080656" MONDO:0015779 "NCIT:C120199" MONDO:0015779 "Orphanet:1772" @@ -16523,16 +16132,15 @@ MONDO:0005286 "SCTID:126805009" MONDO:0005286 "UMLS:C0030215" MONDO:0005286 "EFO:0003849" MONDO:0005286 "NCIT:C4402" -MONDO:0018341 "Orphanet:397695" -MONDO:0018341 "UMLS:CN225942" -MONDO:0018341 "ICD10:Q93.5" MONDO:0011625 "UMLS:C1853760" MONDO:0011625 "OMIM:606012" MONDO:0011625 "MESH:C565267" -MONDO:0011625 "ICD10:H90.3" MONDO:0011625 "Orphanet:90635" MONDO:0011625 "DOID:0110549" -MONDO:0004869 "ICD10:I86.2" +MONDO:0018341 "Orphanet:397695" +MONDO:0018341 "ICD10CM:Q93.5" +MONDO:0018341 "UMLS:CN225942" +MONDO:0004869 "ICD10CM:I86.2" MONDO:0004869 "DOID:9742" MONDO:0004869 "UMLS:C0155795" MONDO:0004869 "ICD9:456.5" @@ -16545,39 +16153,37 @@ MONDO:0009749 "GARD:0006500" MONDO:0009749 "DOID:0090068" MONDO:0009749 "Orphanet:643" MONDO:0009749 "UMLS:C1850386" -MONDO:0009749 "ICD10:G60.8" MONDO:0009749 "MESH:D056768" +MONDO:0009749 "ICD10CM:G60.8" MONDO:0009749 "OMIM:256850" MONDO:0020345 "OMIM:254210" MONDO:0020345 "OMIM:617143" MONDO:0020345 "OMIM:615120" +MONDO:0020345 "ICD10CM:G70.2" MONDO:0020345 "OMIM:616330" MONDO:0020345 "Orphanet:98914" -MONDO:0020345 "ICD10:G70.2" MONDO:0020345 "OMIM:616040" MONDO:0020345 "OMIM:616720" MONDO:0020345 "OMIM:617239" -MONDO:0007315 "ICD10:K10.8" -MONDO:0007315 "UMLS:C0008029" MONDO:0007315 "MESH:D002636" -MONDO:0007315 "Orphanet:184" -MONDO:0007315 "DOID:1856" +MONDO:0007315 "NCIT:C84630" MONDO:0007315 "GARD:0006036" -MONDO:0007315 "MedDRA:10070535" -MONDO:0007315 "ICD9:526.89" MONDO:0007315 "SCTID:76098004" +MONDO:0007315 "ICD9:526.89" +MONDO:0007315 "MedDRA:10070535" +MONDO:0007315 "DOID:1856" +MONDO:0007315 "UMLS:C0008029" MONDO:0007315 "OMIM:118400" -MONDO:0007315 "ICD10:M27.8" -MONDO:0007315 "NCIT:C84630" +MONDO:0007315 "Orphanet:184" MONDO:0010456 "UMLS:C3275446" MONDO:0010456 "Orphanet:319308" MONDO:0010456 "OMIM:300854" NCBITaxon:426455 "PMID:14707501" NCBITaxon:426455 "GC_ID:1" -MONDO:0020521 "ICD10:Q79.6" MONDO:0020521 "Orphanet:99875" MONDO:0020521 "UMLS:CN207418" MONDO:0020521 "OMIM:130060" +MONDO:0020521 "ICD10CM:Q79.6" MONDO:0003723 "DOID:5996" MONDO:0003723 "UMLS:C1332573" MONDO:0003723 "NCIT:C6941" @@ -16589,12 +16195,12 @@ MONDO:0024295 "MESH:D017192" MONDO:0016383 "SCTID:111395007" MONDO:0016383 "MedDRA:10029147" MONDO:0016383 "MESH:D018500" +MONDO:0016383 "ICD10CM:N25.1" MONDO:0016383 "GARD:0007178" MONDO:0016383 "NCIT:C84919" MONDO:0016383 "DOID:12387" MONDO:0016383 "OMIM:125800" MONDO:0016383 "OMIM:304800" -MONDO:0016383 "ICD10:N25.1" MONDO:0016383 "Orphanet:223" MONDO:0016383 "UMLS:C0162283" MONDO:0016383 "ICD9:588.1" @@ -16604,8 +16210,8 @@ MONDO:0001731 "UMLS:C1511106" MONDO:0010866 "MESH:C536055" MONDO:0010866 "GARD:0010082" MONDO:0010866 "OMIM:259720" -MONDO:0010866 "ICD10:Q78.2" MONDO:0010866 "OMIM:600329" +MONDO:0010866 "ICD10CM:Q78.2" MONDO:0010866 "SCTID:724226009" MONDO:0010866 "UMLS:C1838258" MONDO:0010866 "Orphanet:85179" @@ -16619,6 +16225,7 @@ MONDO:0011508 "OMIM:605027" MONDO:0011508 "SCTID:118601006" MONDO:0005473 "EFO:0005279" MONDO:0005473 "ICD9:524.69" +MONDO:0005473 "ICD10CM:M26-M27" MONDO:0005473 "NCIT:C63709" MONDO:0005473 "SCTID:41888000" MONDO:0005473 "MESH:D013705" @@ -16629,18 +16236,16 @@ MONDO:0007673 "UMLS:C0268536" HP:0001376 "UMLS:C1857108" MONDO:0014283 "OMIM:615629" MONDO:0014283 "DOID:0110581" -MONDO:0014283 "ICD10:H90.3" MONDO:0014283 "UMLS:C3810170" MONDO:0011897 "Orphanet:447896" MONDO:0011897 "OMIM:607694" MONDO:0011897 "Orphanet:447893" MONDO:0011897 "Orphanet:77295" -MONDO:0011897 "ICD10:E75.2" MONDO:0011897 "Orphanet:137639" MONDO:0011897 "SCTID:721846006" MONDO:0011897 "DOID:0060794" +MONDO:0011897 "ICD10CM:E75.2" MONDO:0011897 "Orphanet:88637" -MONDO:0011897 "ICD10:G11.1" MONDO:0007502 "OMIM:128710" MONDO:0003910 "UMLS:C1334782" MONDO:0003910 "DOID:6522" @@ -16654,14 +16259,14 @@ MONDO:0004071 "UMLS:C0338070" MONDO:0004071 "GARD:0009302" MONDO:0004071 "DOID:7007" MONDO:0004071 "NCIT:C4347" -MONDO:0016266 "ICD10:C50" MONDO:0016266 "Orphanet:213716" +MONDO:0016266 "ICD10CM:C50" MONDO:0008662 "DOID:0111569" MONDO:0008662 "Orphanet:263347" MONDO:0008662 "GARD:0005507" MONDO:0008662 "SCTID:711162004" MONDO:0008662 "UMLS:C3888099" -MONDO:0008662 "ICD10:H35.5" +MONDO:0008662 "ICD10CM:H35.5" MONDO:0008662 "MESH:C536352" MONDO:0008662 "OMIM:193220" MONDO:0008662 "Orphanet:3086" @@ -16674,7 +16279,6 @@ MONDO:0013217 "OMIM:613309" MONDO:0013217 "MESH:C567649" MONDO:0013217 "UMLS:C2750080" MONDO:0012002 "MESH:C564266" -MONDO:0012002 "ICD10:H90.3" MONDO:0012002 "DOID:0110499" MONDO:0012002 "Orphanet:90636" MONDO:0012002 "OMIM:608264" @@ -16682,8 +16286,8 @@ MONDO:0012002 "UMLS:C1842345" MONDO:0003136 "DOID:4780" MONDO:0003136 "UMLS:C1332309" MONDO:0003136 "NCIT:C35798" +MONDO:0017622 "ICD10CM:E74.3" MONDO:0017622 "Orphanet:306486" -MONDO:0017622 "ICD10:E74.3" MONDO:0100424 "NCIT:C41381" MONDO:0003893 "UMLS:C1514910" MONDO:0003893 "NCIT:C39956" @@ -16693,9 +16297,9 @@ MONDO:0003546 "SCTID:60750009" MONDO:0003546 "DOID:562" MONDO:0003546 "MESH:D015840" MONDO:0003546 "UMLS:C0271353" -MONDO:0017668 "ICD10:Q87.8" MONDO:0017668 "UMLS:CN203552" MONDO:0017668 "Orphanet:3074" +MONDO:0017668 "ICD10CM:Q87.8" MONDO:0017668 "GARD:0003514" MONDO:0044279 "OMIM:613418" MONDO:0032664 "OMIM:618300" @@ -16707,25 +16311,24 @@ MONDO:0012205 "SCTID:725392005" MONDO:0012205 "OMIM:609161" MONDO:0014658 "GARD:0009443" MONDO:0014658 "PMID:10053006" +MONDO:0014658 "ICD10CM:Q77.4" MONDO:0014658 "OMIM:616482" MONDO:0014658 "SCTID:699870002" -MONDO:0014658 "url:https://ghr.nlm.nih.gov/condition/saddan" MONDO:0014658 "Orphanet:85165" -MONDO:0014658 "ICD10:Q77.4" MONDO:0014658 "ICD9:757.39" MONDO:0014658 "ICD9:783.40" MONDO:0014658 "DOID:0111158" MONDO:0010044 "UMLS:C1849128" MONDO:0010044 "MESH:C536642" +MONDO:0010044 "ICD10CM:G11.4" MONDO:0010044 "GARD:0009581" -MONDO:0010044 "ICD10:G11.4" MONDO:0010044 "OMIM:270700" MONDO:0010044 "SCTID:709417000" MONDO:0010044 "Orphanet:100996" MONDO:0010044 "DOID:0110768" MONDO:0033004 "OMIM:263200" MONDO:0033004 "DOID:0080212" -MONDO:0015840 "ICD10:Q51.2" +MONDO:0015840 "ICD10CM:Q51.2" MONDO:0015840 "Orphanet:180126" HP:0010978 "UMLS:C4023616" MONDO:0004578 "DOID:8464" @@ -16748,22 +16351,22 @@ MONDO:0043267 "SCTID:400054000" MONDO:0043267 "UMLS:C0240903" MONDO:0043267 "MESH:D056653" HP:0040215 "UMLS:C4073161" -MONDO:0020124 "ICD10:G70.0" -MONDO:0020124 "ICD10:G70.9" -MONDO:0020124 "ICD10:G70.2" -MONDO:0020124 "ICD10:G70.8" +MONDO:0020124 "ICD10CM:G70.1" MONDO:0020124 "SCTID:128213006" MONDO:0020124 "DOID:439" +MONDO:0020124 "ICD10CM:G70.9" +MONDO:0020124 "ICD10CM:G70.8" +MONDO:0020124 "ICD10CM:G70.0" MONDO:0020124 "MESH:D020511" MONDO:0020124 "Orphanet:98491" +MONDO:0020124 "ICD10CM:G70.2" MONDO:0020124 "UMLS:C0751950" -MONDO:0020124 "ICD10:G70.1" MONDO:0011446 "MESH:C565786" MONDO:0011446 "OMIM:604363" MONDO:0011446 "UMLS:C1858478" MONDO:0100290 "NCIT:C96470" MONDO:0100290 "UMLS:C3272797" -MONDO:0013646 "ICD10:Q93.5" +MONDO:0013646 "ICD10CM:Q93.5" MONDO:0013646 "SCTID:718615003" MONDO:0013646 "UMLS:C4305343" MONDO:0013646 "Orphanet:284160" @@ -16779,18 +16382,17 @@ MONDO:0010319 "UMLS:C1845543" MONDO:0015723 "Orphanet:1699" MONDO:0015723 "UMLS:C0795845" MONDO:0015723 "GARD:0005305" -MONDO:0015723 "ICD10:Q92.3" MONDO:0015723 "MESH:C538299" MONDO:0002816 "DOID:3952" MONDO:0002816 "UMLS:C0001614" MONDO:0002816 "SCTID:129636003" MONDO:0002816 "MESH:D000303" +MONDO:0022762 "ICD10CM:Q93.3" MONDO:0022762 "Orphanet:261884" MONDO:0022762 "GARD:0006090" MONDO:0022762 "MESH:C537637" -MONDO:0022762 "ICD10:Q93.3" MONDO:0018015 "SCTID:711286009" -MONDO:0018015 "ICD10:M12.4" +MONDO:0018015 "ICD10CM:M12.4" MONDO:0018015 "Orphanet:329967" MONDO:0018015 "UMLS:C0149910" MONDO:0007105 "Orphanet:275872" @@ -16800,13 +16402,12 @@ MONDO:0007105 "UMLS:C1862937" MONDO:0007105 "DOID:0060213" MONDO:0017902 "Orphanet:319574" MONDO:0017902 "UMLS:CN203961" -MONDO:0017902 "ICD10:D84.8" +MONDO:0017902 "ICD10CM:D84.8" MONDO:0017902 "OMIM:614889" MONDO:0012887 "OMIM:612381" MONDO:0012887 "UMLS:C2676484" MONDO:0012887 "DOID:0110884" MONDO:0012887 "MESH:C567326" -MONDO:0013961 "ICD10:E23.0" MONDO:0013961 "UMLS:C3554021" MONDO:0013961 "OMIM:614897" MONDO:0013961 "DOID:0090080" @@ -16814,9 +16415,9 @@ MONDO:0015077 "UMLS:CN197370" MONDO:0015077 "Orphanet:100091" HP:0004323 "UMLS:C4025357" HP:0004323 "UMLS:C0878621" +MONDO:0005065 "ICD10CM:C45" MONDO:0005065 "OMIM:156240" MONDO:0005065 "DOID:1790" -MONDO:0005065 "ICD10:C45" MONDO:0005065 "NCIT:C3234" MONDO:0005065 "MESH:D008654" MONDO:0005065 "EFO:0000588" @@ -16826,23 +16427,22 @@ MONDO:0003021 "NCIT:C5450" MONDO:0003021 "DOID:4504" MONDO:0017256 "Orphanet:280914" MONDO:0017256 "SCTID:231947004" -MONDO:0017256 "ICD10:H20.8" -MONDO:0017256 "ICD10:H20.9" -MONDO:0017256 "ICD10:H20.0" -MONDO:0017256 "ICD10:H20.2" -MONDO:0017256 "ICD10:H20.1" +MONDO:0017256 "ICD10CM:H20.0" +MONDO:0017256 "ICD10CM:H20.1" +MONDO:0017256 "ICD10CM:H20.2" +MONDO:0017256 "ICD10CM:H20.8" MONDO:0017256 "UMLS:C0339315" +MONDO:0017256 "ICD10CM:H20.9" MONDO:0014378 "DOID:0110600" -MONDO:0014378 "ICD10:Q34.8" MONDO:0014378 "Orphanet:244" -MONDO:0014378 "UMLS:C4014534" MONDO:0014378 "OMIM:615872" +MONDO:0014378 "UMLS:C4014534" MONDO:0008441 "MESH:C566681" MONDO:0008441 "OMIM:182800" MONDO:0008441 "UMLS:C1866852" NCBITaxon:372083 "GC_ID:1" MONDO:0015944 "SCTID:765755006" -MONDO:0015944 "ICD10:Q87.8" +MONDO:0015944 "ICD10CM:Q87.8" MONDO:0015944 "GARD:0000213" MONDO:0015944 "UMLS:C2931613" MONDO:0015944 "Orphanet:1834" @@ -16864,13 +16464,12 @@ MONDO:0033091 "UMLS:CN317536" MONDO:0033091 "OMIM:617571" MONDO:0019855 "OMIM:225250" MONDO:0019855 "Orphanet:95713" -MONDO:0019855 "ICD10:E03.1" +MONDO:0019855 "ICD10CM:E03.1" MONDO:0019855 "OMIM:218700" MONDO:0003325 "NCIT:C42058" MONDO:0003325 "DOID:5193" MONDO:0003325 "UMLS:C1517445" MONDO:0018658 "UMLS:CN237720" -MONDO:0018658 "ICD10:Q92.3" MONDO:0018658 "OMIM:613638" MONDO:0018658 "Orphanet:447980" MONDO:0011038 "SCTID:720634003" @@ -16887,8 +16486,8 @@ MONDO:0015443 "GTR:AN0101480" MONDO:0015443 "SCTID:715983001" MONDO:0015443 "Orphanet:1450" MONDO:0015443 "NCIT:C121988" -MONDO:0015443 "ICD10:Q93.2" MONDO:0015443 "GTR:AN0101479" +MONDO:0015443 "ICD10CM:Q93.2" MONDO:0015443 "GARD:0001347" MONDO:0015443 "MESH:C537824" NCBITaxon:2732506 "GC_ID:1" @@ -16896,45 +16495,45 @@ CL:0000835 "FMA:83524" CL:0000835 "BTO:0000187" MONDO:0001367 "ICD9:289.51" MONDO:0001367 "SCTID:191382009" +MONDO:0001367 "ICD10CM:D73.2" MONDO:0001367 "DOID:11787" -MONDO:0001367 "ICD10:D73.2" MONDO:0001367 "UMLS:C0398661" MONDO:0015489 "Orphanet:156143" MONDO:0002313 "SCTID:318316003" MONDO:0002313 "ICD9:372.13" MONDO:0002313 "UMLS:C0009773" +MONDO:0002313 "ICD10CM:H10.44" MONDO:0002313 "DOID:2474" -MONDO:0002313 "ICD10:H10.44" MONDO:0002313 "NCIT:C34508" MONDO:0022311 "GARD:0001554" MONDO:0022311 "MESH:C536449" MONDO:0022311 "UMLS:C2931195" -MONDO:0012479 "ICD10:P78.3" MONDO:0012479 "OMIM:610370" MONDO:0012479 "MESH:C563673" MONDO:0012479 "DOID:0060779" MONDO:0012479 "SCTID:722392003" +MONDO:0012479 "ICD10CM:P78.3" MONDO:0012479 "Orphanet:83620" MONDO:0012479 "UMLS:C1835888" -MONDO:0016884 "ICD10:Q93.5" MONDO:0016884 "Orphanet:261866" +MONDO:0016884 "ICD10CM:Q93.5" NCBITaxon:2560319 "GC_ID:1" MONDO:0016713 "MedDRA:10057846" MONDO:0016713 "NCIT:C129537" MONDO:0016713 "Orphanet:251870" MONDO:0020376 "OMIM:607304" MONDO:0020376 "UMLS:CN207247" +MONDO:0020376 "ICD10CM:Q12.0" MONDO:0020376 "OMIM:610019" MONDO:0020376 "Orphanet:98991" MONDO:0020376 "OMIM:609376" MONDO:0020376 "OMIM:611391" -MONDO:0020376 "ICD10:Q12.0" MONDO:0020376 "MedDRA:10057735" MONDO:0020376 "MedDRA:10007759" MONDO:0020376 "OMIM:116400" MONDO:0020376 "MESH:C563333" MONDO:0011561 "DOID:0110038" -MONDO:0011561 "ICD10:G30" +MONDO:0011561 "ICD10CM:G30" MONDO:0011561 "OMIM:605526" MONDO:0011561 "MESH:C565325" MONDO:0001554 "DOID:12571" @@ -16943,7 +16542,7 @@ MONDO:0001554 "UMLS:C0339590" MONDO:0001554 "ICD9:365.59" MONDO:0003754 "GARD:0005964" MONDO:0003754 "EFO:1001279" -MONDO:0003754 "ICD10:G83.81" +MONDO:0003754 "ICD10CM:G83.81" MONDO:0003754 "DOID:606" MONDO:0003754 "NCIT:C84601" MONDO:0003754 "SCTID:27982003" @@ -16956,7 +16555,7 @@ MONDO:0006701 "EFO:1000867" MONDO:0006701 "NCIT:C2857" MONDO:0008827 "SCTID:254065005" MONDO:0008827 "ICD9:756.9" -MONDO:0008827 "ICD10:Q77.7" +MONDO:0008827 "ICD10CM:Q77.7" MONDO:0008827 "OMIM:208230" MONDO:0008827 "GARD:0009184" MONDO:0008827 "Orphanet:1159" @@ -16967,12 +16566,12 @@ MONDO:0043361 "MESH:D062108" MONDO:0043361 "SCTID:448804008" MONDO:0043361 "UMLS:C3165062" MONDO:0100385 "NCIT:C36372" +MONDO:0013740 "ICD10CM:Q87.5" MONDO:0013740 "OMIM:614416" MONDO:0013740 "UMLS:C3280729" -MONDO:0013740 "ICD10:Q87.5" MONDO:0013740 "Orphanet:293925" MONDO:0019447 "UMLS:C4510874" -MONDO:0019447 "ICD10:L98.5" +MONDO:0019447 "ICD10CM:L98.5" MONDO:0019447 "SCTID:725148000" MONDO:0019447 "Orphanet:86797" MONDO:0000152 "OMIMPS:249270" @@ -17012,12 +16611,12 @@ MONDO:0100229 "UMLS:C1856186" MONDO:0100229 "GARD:0001687" MONDO:0100229 "SCTID:721085000" MONDO:0100229 "OMIM:616617" -MONDO:0009431 "ICD10:E83.3" MONDO:0009431 "SCTID:237891005" MONDO:0009431 "DOID:0050947" MONDO:0009431 "MESH:C562793" MONDO:0009431 "NCIT:C131450" MONDO:0009431 "OMIM:241530" +MONDO:0009431 "ICD10CM:E83.3" MONDO:0009431 "Orphanet:157215" MONDO:0009431 "UMLS:C1853271" MONDO:0013094 "Orphanet:182067" @@ -17050,8 +16649,8 @@ MONDO:0010905 "Orphanet:1872" MONDO:0010905 "OMIM:600624" MONDO:0013811 "Orphanet:319509" MONDO:0013811 "OMIM:614582" +MONDO:0013811 "ICD10CM:I42.2" MONDO:0013811 "SCTID:763209008" -MONDO:0013811 "ICD10:I42.2" MONDO:0013811 "DOID:0111472" MONDO:0013811 "UMLS:C3281234" HP:0010932 "UMLS:C4020762" @@ -17062,7 +16661,7 @@ MONDO:0008693 "OMIM:200110" MONDO:0008693 "Orphanet:920" MONDO:0008693 "MESH:C535557" MONDO:0008693 "DOID:0060550" -MONDO:0008693 "ICD10:Q87.0" +MONDO:0008693 "ICD10CM:Q87.0" MONDO:0008693 "UMLS:C1860224" MONDO:0017200 "UMLS:C2931462" MONDO:0017200 "GARD:0002365" @@ -17074,7 +16673,7 @@ MONDO:0007496 "OMIM:128235" MONDO:0007496 "SCTID:702323008" MONDO:0007496 "GARD:0009628" MONDO:0007496 "MESH:C538001" -MONDO:0007496 "ICD10:G24.1" +MONDO:0007496 "ICD10CM:G24.1" MONDO:0007496 "Orphanet:71517" MONDO:0007496 "UMLS:C1868681" MONDO:0007496 "DOID:0090056" @@ -17085,8 +16684,8 @@ MONDO:0004930 "ICD9:365.3" MONDO:0004930 "UMLS:C0339578" MONDO:0007758 "OMIM:144200" MONDO:0007758 "NCIT:C84693" +MONDO:0007758 "ICD10CM:Q82.8" MONDO:0007758 "DOID:0080223" -MONDO:0007758 "ICD10:Q82.8" MONDO:0007758 "GARD:0002826" MONDO:0007758 "SCTID:399955009" MONDO:0007758 "UMLS:C0022584" @@ -17097,11 +16696,11 @@ MONDO:0012028 "OMIM:608392" NCBITaxon:7148 "GC_ID:1" MONDO:0000637 "DOID:0060100" MONDO:0016305 "UMLS:CN201110" -MONDO:0016305 "ICD10:G23.0" +MONDO:0016305 "ICD10CM:G23.0" MONDO:0016305 "Orphanet:216873" MONDO:0024473 "DOID:0050041" MONDO:0016479 "UMLS:CN201474" -MONDO:0016479 "ICD10:Q87.1" +MONDO:0016479 "ICD10CM:Q87.1" MONDO:0016479 "Orphanet:231137" MONDO:0004156 "DOID:7234" MONDO:0004156 "NCIT:C5713" @@ -17118,8 +16717,8 @@ MONDO:0009517 "SCTID:111307005" MONDO:0009517 "ICD9:259.8" MONDO:0009517 "DOID:0050470" MONDO:0009517 "OMIM:246200" +MONDO:0009517 "ICD10CM:E34.8" MONDO:0009517 "MESH:D056731" -MONDO:0009517 "ICD10:E34.8" MONDO:0009517 "SCTID:33559001" MONDO:0009517 "NCIT:C84676" MONDO:0009517 "UMLS:C0271695" @@ -17132,18 +16731,16 @@ MONDO:0008302 "Orphanet:759" MONDO:0013469 "OMIM:613862" MONDO:0013469 "DOID:0110367" MONDO:0013469 "UMLS:C3151228" -MONDO:0013469 "ICD10:H35.5" MONDO:0011195 "Orphanet:231169" MONDO:0011195 "DOID:0110833" MONDO:0011195 "OMIM:602097" MONDO:0011195 "GARD:0005439" MONDO:0011195 "UMLS:C1865865" MONDO:0011195 "Orphanet:886" -MONDO:0011195 "ICD10:H35.5" MONDO:0016991 "Orphanet:263524" MONDO:0016991 "OMIM:614212" MONDO:0016991 "SCTID:763310000" -MONDO:0016991 "ICD10:G31.8" +MONDO:0016991 "ICD10CM:G31.8" MONDO:0000824 "DOID:0060774" MONDO:0000824 "UMLS:CN232319" MONDO:0000824 "OMIMPS:214700" @@ -17151,12 +16748,12 @@ MONDO:0009180 "Orphanet:79405" MONDO:0009180 "UMLS:C0079301" MONDO:0009180 "UMLS:C2673610" MONDO:0009180 "Orphanet:89840" -MONDO:0009180 "ICD10:Q81.8" MONDO:0009180 "SCTID:33662006" MONDO:0009180 "GARD:0002151" MONDO:0009180 "Orphanet:251393" MONDO:0009180 "ICD9:757.39" MONDO:0009180 "UMLS:C2673609" +MONDO:0009180 "ICD10CM:Q81.8" MONDO:0009180 "OMIM:226650" MONDO:0009180 "Orphanet:79402" MONDO:0012551 "Orphanet:701" @@ -17201,9 +16798,9 @@ MONDO:0004522 "ICD9:567.8" MONDO:0004522 "EFO:0008588" MONDO:0013992 "NCIT:C120386" MONDO:0013992 "UMLS:C3554225" +MONDO:0013992 "ICD10CM:E66.8" MONDO:0013992 "OMIM:614963" MONDO:0013992 "Orphanet:179494" -MONDO:0013992 "ICD10:E66.8" MONDO:0001404 "DOID:11907" MONDO:0001404 "UMLS:C0013568" MONDO:0001404 "EFO:1000689" @@ -17211,15 +16808,16 @@ MONDO:0001404 "ICD9:686.8" MONDO:0001404 "SCTID:85791004" MONDO:0001404 "MESH:D004473" MONDO:0007307 "NCIT:C118782" -MONDO:0007307 "ICD10:G60.0" MONDO:0007307 "DOID:0110152" MONDO:0007307 "OMIM:118200" MONDO:0007307 "Orphanet:101082" MONDO:0007307 "UMLS:C0007959" MONDO:0007307 "UMLS:C0270912" +MONDO:0007307 "ICD10CM:G60.0" MONDO:0007307 "GARD:0001246" MONDO:0026720 "OMIM:301020" MONDO:0006170 "DOID:4251" +MONDO:0006170 "ICD10CM:H10-H11" MONDO:0006170 "EFO:1000203" MONDO:0006170 "NCIT:C27605" MONDO:0024969 "UMLS:C0030500" @@ -17236,10 +16834,10 @@ MONDO:0015936 "Orphanet:182130" MONDO:0019035 "EFO:1000446" MONDO:0019035 "GARD:0004210" MONDO:0019035 "DOID:6823" +MONDO:0019035 "ICD10CM:C25.1" MONDO:0019035 "ONCOTREE:PB" MONDO:0019035 "MESH:C537162" MONDO:0019035 "UMLS:C0334489" -MONDO:0019035 "ICD10:C25.1" MONDO:0019035 "NCIT:C4265" MONDO:0019035 "Orphanet:677" MONDO:0002587 "NCIT:C7386" @@ -17248,23 +16846,23 @@ MONDO:0002587 "UMLS:C1333383" MONDO:0030037 "OMIM:618879" CL:1000405 "FMA:63602" MONDO:0010652 "SCTID:719810000" +MONDO:0010652 "ICD10CM:Q87.8" MONDO:0010652 "MESH:C536978" MONDO:0010652 "GARD:0005238" -MONDO:0010652 "ICD10:Q87.8" MONDO:0010652 "Orphanet:3052" MONDO:0010652 "OMIM:309480" MONDO:0005963 "DOID:10080" MONDO:0005963 "ICD9:123.5" MONDO:0005963 "NCIT:C35030" MONDO:0005963 "MESH:D013031" +MONDO:0005963 "ICD10CM:B70.1" MONDO:0005963 "SCTID:31659000" -MONDO:0005963 "ICD10:B70.1" MONDO:0005963 "EFO:0007488" MONDO:0005963 "UMLS:C0037753" +MONDO:0017794 "ICD10CM:Q99.8" MONDO:0017794 "Orphanet:314389" MONDO:0017794 "SCTID:764711007" MONDO:0017794 "UMLS:CN203749" -MONDO:0017794 "ICD10:Q99.8" MONDO:0001627 "MESH:D003704" MONDO:0001627 "DOID:1307" MONDO:0001627 "NCIT:C4786" @@ -17284,9 +16882,9 @@ MONDO:0003191 "UMLS:C3840223" MONDO:0003191 "NCIT:C40017" MONDO:0012143 "Orphanet:168577" MONDO:0012143 "MESH:C563840" -MONDO:0012143 "ICD10:D58.8" MONDO:0012143 "UMLS:C1837206" MONDO:0012143 "OMIM:608885" +MONDO:0012143 "ICD10CM:D58.8" MONDO:0021573 "UMLS:C4225210" MONDO:0021573 "OMIM:616780" MONDO:0014948 "UMLS:C4310686" @@ -17297,13 +16895,11 @@ MONDO:0018868 "OMIM:250100" MONDO:0018868 "OMIM:156310" MONDO:0018868 "UMLS:C0023522" MONDO:0018868 "OMIM:249900" -MONDO:0018868 "ICD10:E75.25" MONDO:0018868 "MESH:D007966" -MONDO:0018868 "ICD10:E75.29" +MONDO:0018868 "ICD10CM:E75.2" MONDO:0018868 "Orphanet:512" MONDO:0018868 "DOID:10581" MONDO:0018868 "SCTID:66521008" -MONDO:0018868 "ICD10:E75.2" MONDO:0018868 "NCIT:C61251" MONDO:0018868 "MedDRA:10067609" MONDO:0010873 "MESH:C563950" @@ -17316,17 +16912,16 @@ MONDO:0017981 "UMLS:CN204137" MONDO:0011384 "OMIM:603918" NCBITaxon:42461 "GC_ID:1" MONDO:0013584 "GARD:11927" -MONDO:0013584 "MESH:C580162" -MONDO:0013584 "ICD10:G60.8" +MONDO:0013584 "ICD10CM:G60.8" +MONDO:0013584 "UMLS:C3279885" +MONDO:0013584 "DOID:0070158" MONDO:0013584 "Orphanet:456318" MONDO:0013584 "GARD:0011927" -MONDO:0013584 "DOID:0070158" -MONDO:0013584 "UMLS:C3279885" +MONDO:0013584 "MESH:C580162" MONDO:0013584 "OMIM:614116" MONDO:0013237 "UMLS:C3150596" MONDO:0013237 "OMIM:613353" MONDO:0013413 "OMIM:613767" -MONDO:0013413 "ICD10:H35.5" MONDO:0013413 "UMLS:C3151066" MONDO:0013413 "DOID:0110402" MONDO:0033717 "Orphanet:512260" @@ -17343,17 +16938,16 @@ MONDO:0015528 "SCTID:360525006" MONDO:0015528 "Orphanet:157826" MONDO:0015528 "UMLS:C0376319" MONDO:0015528 "DOID:7280" +MONDO:0009275 "ICD10CM:E83.1" MONDO:0009275 "Orphanet:446" MONDO:0009275 "UMLS:C0268059" MONDO:0009275 "NCIT:C129980" MONDO:0009275 "MESH:C536394" MONDO:0009275 "GARD:0007172" -MONDO:0009275 "ICD10:E83.1" MONDO:0009275 "OMIM:231100" MONDO:0002136 "DOID:1893" MONDO:0002136 "ICD9:373.31" MONDO:0002136 "SCTID:36259009" -MONDO:0002136 "ICD10:H01.13" MONDO:0002136 "UMLS:C0155177" MONDO:0022481 "GARD:0000758" MONDO:0042726 "MESH:C537722" @@ -17370,7 +16964,6 @@ MONDO:0011455 "OMIM:604382" MONDO:0011455 "MESH:C565781" MONDO:0011455 "UMLS:C1858419" MONDO:0005512 "Orphanet:168811" -MONDO:0005512 "ICD10:C45.1" MONDO:0005512 "EFO:0005567" MONDO:0005512 "NCIT:C8704" MONDO:0005512 "MedDRA:10056558" @@ -17378,42 +16971,40 @@ MONDO:0005512 "DOID:1788" MONDO:0017709 "Orphanet:309028" MONDO:0017709 "UMLS:CN227181" MONDO:0012401 "UMLS:C1864738" -MONDO:0012401 "ICD10:H18.5" MONDO:0012401 "SCTID:702359002" MONDO:0012401 "OMIM:610048" +MONDO:0012401 "ICD10CM:H18.5" MONDO:0012401 "DOID:0060445" MONDO:0012401 "MESH:C566452" MONDO:0012401 "ICD9:371.56" MONDO:0012401 "Orphanet:101068" MONDO:0007712 "Orphanet:2549" MONDO:0007712 "SCTID:726722009" +MONDO:0007712 "ICD10CM:Q75.8" MONDO:0007712 "GARD:0003653" -MONDO:0007712 "ICD10:Q75.8" MONDO:0007712 "UMLS:C0265240" MONDO:0007712 "OMIM:141400" MONDO:0032705 "OMIM:618367" MONDO:0032705 "Orphanet:597874" -MONDO:0044201 "ICD10:D81.2" MONDO:0044201 "Orphanet:397802" NCBITaxon:121759 "GC_ID:1" MONDO:0007160 "OMIM:609508" MONDO:0007160 "Orphanet:828" MONDO:0007160 "Orphanet:90653" -MONDO:0007160 "ICD10:Q87.5" +MONDO:0007160 "ICD10CM:Q87.5" MONDO:0007160 "OMIM:108300" MONDO:0007160 "GARD:0005018" MONDO:0007160 "MESH:C537492" MONDO:0001219 "SCTID:9824006" MONDO:0001219 "ICD9:372.01" MONDO:0001219 "UMLS:C0155142" -MONDO:0001219 "ICD10:H10.23" MONDO:0001219 "DOID:11197" MONDO:0009119 "UMLS:C1857228" MONDO:0009119 "OMIM:223320" MONDO:0009119 "MESH:C565620" MONDO:0004774 "SCTID:9091006" +MONDO:0004774 "ICD10CM:A54.32" MONDO:0004774 "DOID:9384" -MONDO:0004774 "ICD10:A54.32" MONDO:0004774 "UMLS:C0153212" MONDO:0004774 "ICD9:098.41" MONDO:0016969 "UMLS:C0795871" @@ -17423,11 +17014,11 @@ MONDO:0016969 "Orphanet:262986" MONDO:0060724 "OMIM:618010" MONDO:0060724 "UMLS:CN248527" MONDO:0020320 "GARD:0000527" +MONDO:0020320 "ICD10CM:C92.0" MONDO:0020320 "ICDO:9874/3" MONDO:0020320 "EFO:0003028" MONDO:0020320 "NCIT:C3250" MONDO:0020320 "Orphanet:98834" -MONDO:0020320 "ICD10:C92.0" MONDO:0020320 "ONCOTREE:AM" MONDO:0006953 "MedDRA:10039016" MONDO:0006953 "SCTID:44795003" @@ -17437,15 +17028,15 @@ MONDO:0006953 "DOID:4175" MONDO:0006953 "NCIT:C113150" NCBITaxon:155616 "PMID:26955199" NCBITaxon:155616 "GC_ID:1" -MONDO:0017573 "ICD10:Q56.2" +MONDO:0017573 "ICD10CM:Q56.2" MONDO:0017573 "Orphanet:2973" MONDO:0017573 "UMLS:CN203326" MONDO:0017226 "GARD:0012300" -MONDO:0017226 "ICD10:E75.2" MONDO:0017226 "OMIM:612233" MONDO:0017226 "OMIM:300523" MONDO:0017226 "SCTID:717042001" MONDO:0017226 "OMIM:608804" +MONDO:0017226 "ICD10CM:E75.2" MONDO:0017226 "Orphanet:280270" MONDO:0017226 "OMIM:260600" MONDO:0008107 "GARD:0009604" @@ -17461,53 +17052,51 @@ MONDO:0001406 "ICD9:239.2" MONDO:0001406 "MESH:D010524" MONDO:0001406 "MESH:D018317" MONDO:0001406 "NCIT:C3321" -MONDO:0013133 "Orphanet:618" -MONDO:0013133 "OMIM:613099" MONDO:0001007 "DOID:10341" MONDO:0001007 "ICD9:322.2" MONDO:0001007 "SCTID:21664006" -MONDO:0001007 "ICD10:G03.1" MONDO:0001007 "UMLS:C0154653" +MONDO:0001007 "ICD10CM:G03.1" MONDO:0000237 "UMLS:C1276801" MONDO:0000237 "SCTID:400105005" MONDO:0000237 "DOID:0050061" MONDO:0000237 "MESH:D004887" -MONDO:0000237 "ICD10:A26" +MONDO:0000237 "ICD10CM:A26" +MONDO:0013133 "Orphanet:618" +MONDO:0013133 "OMIM:613099" MONDO:0022803 "GARD:0001439" MONDO:0013179 "SCTID:723821002" MONDO:0013179 "UMLS:C2750784" MONDO:0013179 "DOID:0110796" MONDO:0013179 "OMIM:613206" MONDO:0013179 "Orphanet:320401" -MONDO:0013179 "ICD10:G11.4" +MONDO:0013179 "ICD10CM:G11.4" MONDO:0013179 "MESH:C567707" MONDO:0017194 "GARD:0000916" MONDO:0017194 "OMIM:188700" MONDO:0017194 "NCIT:C118460" MONDO:0017194 "Orphanet:2768" MONDO:0017194 "OMIM:259200" +MONDO:0017194 "ICD10CM:M92.5" MONDO:0017194 "DOID:14798" MONDO:0017194 "ICD9:736.89" MONDO:0017194 "MESH:C536237" MONDO:0017194 "SCTID:79353000" -MONDO:0017194 "ICD10:M92.5" MONDO:0017194 "MedDRA:10072255" MONDO:0016171 "Orphanet:208981" -MONDO:0016171 "ICD10:G61.8" +MONDO:0016171 "ICD10CM:G61.8" MONDO:0002808 "DOID:3917" MONDO:0002808 "ONCOTREE:PSC" MONDO:0002808 "NCIT:C5712" MONDO:0002808 "UMLS:C1335316" MONDO:0018667 "Orphanet:449266" MONDO:0018667 "MESH:D016724" -MONDO:0018667 "ICD10:J86" MONDO:0018667 "HP:0011919" MONDO:0018667 "SCTID:405950009" -MONDO:0018667 "ICD10:J86.9" MONDO:0018667 "DOID:3798" MONDO:0009548 "MESH:C536148" +MONDO:0009548 "ICD10CM:E83.4" MONDO:0009548 "GARD:0003451" -MONDO:0009548 "ICD10:E83.4" MONDO:0009548 "Orphanet:2196" MONDO:0009548 "DOID:0060881" MONDO:0009548 "OMIM:248190" @@ -17516,28 +17105,28 @@ MONDO:0008778 "SCTID:38606009" MONDO:0008778 "UMLS:C0268399" MONDO:0008778 "ICD9:277.39" MONDO:0008778 "OMIM:204900" -MONDO:0013016 "Orphanet:2968" MONDO:0013016 "UMLS:C2748536" MONDO:0013016 "Orphanet:99844" -MONDO:0013016 "ICD10:D84.8" -MONDO:0013016 "MESH:C567555" -MONDO:0013016 "OMIM:612840" MONDO:0013016 "DOID:0110912" +MONDO:0013016 "OMIM:612840" +MONDO:0013016 "Orphanet:2968" +MONDO:0013016 "ICD10CM:D84.8" +MONDO:0013016 "MESH:C567555" MONDO:0005128 "DOID:0050155" MONDO:0005128 "EFO:0001058" NCBITaxon:71584 "GC_ID:1" MONDO:0014574 "Orphanet:444138" MONDO:0014574 "UMLS:C4225381" -MONDO:0014574 "ICD10:Q82.8" +MONDO:0014574 "ICD10CM:Q82.8" MONDO:0014574 "OMIM:616295" MONDO:0004041 "ONCOTREE:UPA" MONDO:0004041 "ICDO:8120/1" MONDO:0004041 "DOID:6933" MONDO:0004041 "NCIT:C3842" MONDO:0008504 "HP:0004381" -MONDO:0008504 "ICD10:Q25.3" MONDO:0008504 "MedDRA:10042598" MONDO:0008504 "UMLS:C0003499" +MONDO:0008504 "ICD10CM:Q25.3" MONDO:0008504 "NCIT:C85176" MONDO:0008504 "Orphanet:3193" MONDO:0008504 "GARD:0000743" @@ -17550,7 +17139,7 @@ MONDO:0043875 "SCTID:277605001" MONDO:0043875 "NCIT:C3425" MONDO:0043875 "MESH:D015275" MONDO:0043875 "EFO:1001479" -MONDO:0016518 "ICD10:Q82.8" +MONDO:0016518 "ICD10CM:Q82.8" MONDO:0016518 "Orphanet:2338" MONDO:0019699 "Orphanet:93440" MONDO:0013618 "OMIM:614195" @@ -17580,13 +17169,13 @@ MONDO:0005482 "SCTID:698053001" MONDO:0005482 "ICD9:520.5" MONDO:0005482 "EFO:0005321" MONDO:0008999 "ICD9:759.89" -MONDO:0008999 "ICD10:Q87.8" MONDO:0008999 "DOID:0111590" MONDO:0008999 "MedDRA:10049066" MONDO:0008999 "UMLS:C1854061" MONDO:0008999 "SCTID:56604005" MONDO:0008999 "Orphanet:193" MONDO:0008999 "MESH:C536438" +MONDO:0008999 "ICD10CM:Q87.8" MONDO:0008999 "GARD:0006126" MONDO:0008999 "OMIM:216550" MONDO:0005768 "ICD9:014.86" @@ -17599,7 +17188,6 @@ MONDO:0005768 "SCTID:186225008" MONDO:0005768 "MESH:D014385" MONDO:0005768 "ICD9:014.81" MONDO:0009945 "Orphanet:3006" -MONDO:0009945 "ICD10:G40.8" MONDO:0009945 "UMLS:C1849508" MONDO:0009945 "OMIM:266100" MONDO:0009945 "OMIM:617290" @@ -17610,10 +17198,10 @@ MONDO:0009945 "UMLS:CN203406" MONDO:0015116 "UMLS:CN197473" MONDO:0015116 "Orphanet:101941" MONDO:0012859 "OMIM:612301" -MONDO:0012859 "ICD10:Q78.2" MONDO:0012859 "Orphanet:178389" MONDO:0012859 "UMLS:C2676766" MONDO:0012859 "DOID:0110946" +MONDO:0012859 "ICD10CM:Q78.2" MONDO:0012859 "MESH:C567354" MONDO:0012859 "GARD:0010106" MONDO:0008022 "OMIM:158400" @@ -17627,22 +17215,21 @@ MONDO:0013805 "DOID:0070043" MONDO:0013805 "UMLS:C3281202" MONDO:0013805 "Orphanet:178469" MONDO:0013805 "OMIM:614563" -MONDO:0009393 "MESH:C538380" +MONDO:0009393 "OMIM:238970" +MONDO:0009393 "ICD10CM:E72.4" +MONDO:0009393 "UMLS:C0268540" MONDO:0009393 "Orphanet:415" -MONDO:0009393 "ICD10:E72.4" -MONDO:0009393 "NCIT:C129029" MONDO:0009393 "DOID:0050720" -MONDO:0009393 "GARD:0002830" +MONDO:0009393 "MESH:C538380" MONDO:0009393 "SCTID:30287008" -MONDO:0009393 "UMLS:C0268540" -MONDO:0009393 "OMIM:238970" +MONDO:0009393 "NCIT:C129029" +MONDO:0009393 "GARD:0002830" MONDO:0012636 "GARD:0010273" MONDO:0012636 "OMIM:611185" MONDO:0007947 "DOID:14323" MONDO:0007947 "UMLS:C0024796" MONDO:0007947 "NCIT:C34807" MONDO:0007947 "GARD:0006975" -MONDO:0007947 "ICD10:Q87.4" MONDO:0007947 "SCTID:19346006" MONDO:0007947 "OMIM:610168" MONDO:0007947 "Orphanet:558" @@ -17650,15 +17237,15 @@ MONDO:0007947 "MedDRA:10026829" MONDO:0007947 "UMLS:CN202883" MONDO:0007947 "ICD9:759.82" MONDO:0007947 "Orphanet:284963" +MONDO:0007947 "ICD10CM:Q87.4" MONDO:0007947 "MESH:D008382" -MONDO:0007947 "ICD10:Q87.40" MONDO:0007947 "OMIM:154700" MONDO:0000981 "UMLS:C0153279" MONDO:0000981 "ICD9:115.93" MONDO:0000981 "DOID:10234" MONDO:0000981 "SCTID:187059008" MONDO:0010222 "Orphanet:2745" -MONDO:0010222 "ICD10:Q87.8" +MONDO:0010222 "ICD10CM:Q87.8" MONDO:0010222 "OMIM:300000" MONDO:0010222 "Orphanet:306597" MONDO:0006884 "EFO:1001081" @@ -17676,18 +17263,18 @@ HP:0001962 "UMLS:C0030252" MONDO:0017005 "Orphanet:263746" MONDO:0030981 "OMIM:619238" MONDO:0018563 "Orphanet:435623" -MONDO:0018563 "ICD10:Q72.8" +MONDO:0018563 "ICD10CM:Q72.8" MONDO:0018563 "SCTID:66345008" MONDO:0010151 "MESH:C564762" MONDO:0010151 "UMLS:C1848746" MONDO:0010151 "OMIM:275370" +NCBITaxon:424551 "GC_ID:1" MONDO:0001398 "NCIT:C3617" MONDO:0001398 "SCTID:92464009" MONDO:0001398 "ICD9:223.2" MONDO:0001398 "SCTID:126882009" MONDO:0001398 "DOID:11885" MONDO:0001398 "MESH:D014516" -NCBITaxon:424551 "GC_ID:1" MONDO:0023557 "NCIT:C84353" MONDO:0023557 "SCTID:237091009" MONDO:0023557 "UMLS:C0404521" @@ -17698,10 +17285,9 @@ CL:0009004 "PMID:10702418" MONDO:0010678 "OMIM:310095" MONDO:0010678 "UMLS:C1839669" MONDO:0010678 "MESH:C564095" +MONDO:0005989 "ICD10CM:B58" MONDO:0005989 "ICD9:130.7" -MONDO:0005989 "ICD10:B58" MONDO:0005989 "EFO:0007517" -MONDO:0005989 "ICD10:B58.9" MONDO:0005989 "UMLS:C0040558" MONDO:0005989 "SCTID:187192000" MONDO:0005989 "NCIT:C3418" @@ -17710,9 +17296,9 @@ MONDO:0005989 "ICD9:130" MONDO:0005989 "ICD9:130.9" MONDO:0005989 "MESH:D014123" MONDO:0020417 "Orphanet:99081" +MONDO:0020417 "ICD10CM:Q25.4" MONDO:0020417 "HP:0012020" MONDO:0020417 "SCTID:111321007" -MONDO:0020417 "ICD10:Q25.4" MONDO:0020417 "NCIT:C103917" MONDO:0020417 "MedDRA:10067407" MONDO:0009440 "GARD:0002946" @@ -17723,7 +17309,7 @@ MONDO:0009440 "SCTID:403780007" MONDO:0009440 "OMIM:242150" MONDO:0011624 "Orphanet:101028" MONDO:0011624 "MESH:C563207" -MONDO:0011624 "ICD10:E74.8" +MONDO:0011624 "ICD10CM:E74.8" MONDO:0011624 "SCTID:124252008" MONDO:0011624 "OMIM:606003" MONDO:0011624 "UMLS:C1291329" @@ -17738,7 +17324,7 @@ MONDO:0033013 "OMIM:617525" MONDO:0015047 "OMIM:616270" MONDO:0015047 "OMIM:104500" MONDO:0015047 "OMIM:104530" -MONDO:0015047 "ICD10:K00.5" +MONDO:0015047 "ICD10CM:K00.5" MONDO:0015047 "Orphanet:100031" MONDO:0015047 "SCTID:109476006" MONDO:0015047 "OMIM:301201" @@ -17759,18 +17345,18 @@ MONDO:0017161 "UMLS:CN239493" MONDO:0017161 "OMIMPS:105550" MONDO:0018446 "UMLS:CN226191" MONDO:0018446 "Orphanet:404481" -MONDO:0018446 "ICD10:G11.1" +MONDO:0018446 "ICD10CM:G11.1" CL:0000786 "FMA:70574" CL:0000786 "BTO:0000392" MONDO:0000690 "MESH:D057215" MONDO:0000690 "DOID:0060163" +MONDO:0000690 "ICD10CM:F45.22" MONDO:0000690 "SCTID:83482000" -MONDO:0000690 "ICD10:F45.22" MONDO:0010865 "GARD:0004544" MONDO:0010865 "MESH:C535823" MONDO:0010865 "SCTID:715867000" MONDO:0010865 "Orphanet:221120" -MONDO:0010865 "ICD10:Q82.0" +MONDO:0010865 "ICD10CM:Q82.0" MONDO:0010865 "OMIM:600325" MONDO:0010865 "UMLS:C0795939" MONDO:0013290 "Orphanet:33110" @@ -17786,21 +17372,21 @@ MONDO:0019478 "NCIT:C7942" MONDO:0019478 "UMLS:C1332210" MONDO:0019478 "MEDGEN:231044" MONDO:0016488 "Orphanet:231230" -MONDO:0016488 "ICD10:D58.2" +MONDO:0016488 "ICD10CM:D58.2" MONDO:0015234 "UMLS:C2931398" MONDO:0015234 "MESH:C537024" MONDO:0015234 "Orphanet:1129" -MONDO:0015234 "ICD10:Q87.8" +MONDO:0015234 "ICD10CM:Q87.8" MONDO:0015234 "SCTID:720501007" MONDO:0015234 "GARD:0000381" MONDO:0017434 "UMLS:CN203181" MONDO:0017434 "Orphanet:294959" MONDO:0013439 "OMIM:613812" +MONDO:0013439 "ICD10CM:K76.8" MONDO:0013439 "DOID:0111070" MONDO:0013439 "Orphanet:79302" MONDO:0013439 "SCTID:719454003" MONDO:0013439 "UMLS:C3151147" -MONDO:0013439 "ICD10:K76.8" MONDO:0013439 "MESH:C566340" MONDO:0013439 "UMLS:C4304715" MONDO:0006758 "MedDRA:10061150" @@ -17810,42 +17396,42 @@ MONDO:0006758 "EFO:1000935" MONDO:0016675 "UMLS:C1861238" MONDO:0016675 "OMIM:187370" MONDO:0016675 "MESH:C566069" -MONDO:0016675 "ICD10:Q68.8" MONDO:0016675 "DOID:0111593" +MONDO:0016675 "ICD10CM:Q68.8" MONDO:0016675 "Orphanet:251515" MONDO:0016675 "SCTID:275336002" MONDO:0013797 "Orphanet:261265" -MONDO:0013797 "ICD10:Q93.5" MONDO:0013797 "UMLS:C4518822" MONDO:0013797 "GARD:0013297" MONDO:0013797 "OMIM:614527" MONDO:0013797 "DOID:0060404" MONDO:0013797 "SCTID:733519008" +MONDO:0013797 "ICD10CM:Q93.5" MONDO:0013797 "UMLS:C3281138" NCBITaxon:2212966 "GC_ID:1" MONDO:0021209 "GARD:0002619" MONDO:0021209 "NCIT:C3081" MONDO:0021209 "EFO:1001339" +NCBITaxon:138949 "GC_ID:1" MONDO:0012395 "GARD:0009892" MONDO:0012395 "OMIM:610019" MONDO:0012395 "Orphanet:91492" MONDO:0012395 "DOID:0110238" MONDO:0012395 "MESH:C535337" MONDO:0012395 "Orphanet:98991" -MONDO:0012395 "ICD10:Q12.0" +MONDO:0020346 "OMIM:603034" +MONDO:0020346 "ICD10CM:G70.2" +MONDO:0020346 "Orphanet:98915" +MONDO:0019864 "SCTID:764690001" +MONDO:0019864 "ICD10CM:Q99.8" +MONDO:0019864 "Orphanet:96055" +MONDO:0019864 "GARD:0012480" MONDO:0002275 "SCTID:39823006" MONDO:0002275 "UMLS:C0017327" MONDO:0002275 "ICD9:440.9" MONDO:0002275 "NCIT:C35767" MONDO:0002275 "DOID:2347" -MONDO:0002275 "ICD10:I70.91" -MONDO:0019864 "SCTID:764690001" -MONDO:0019864 "ICD10:Q99.8" -MONDO:0019864 "Orphanet:96055" -MONDO:0019864 "GARD:0012480" -MONDO:0020346 "ICD10:G70.2" -MONDO:0020346 "OMIM:603034" -MONDO:0020346 "Orphanet:98915" +MONDO:0002275 "ICD10CM:I70.91" MONDO:0010457 "Orphanet:276432" MONDO:0010457 "GARD:0000188" MONDO:0010457 "HGNC:7645" @@ -17853,15 +17439,14 @@ MONDO:0010457 "DOID:0050781" MONDO:0010457 "OMIM:300855" MONDO:0010457 "UMLS:C3275447" MONDO:0010457 "MESH:C536107" -NCBITaxon:138949 "GC_ID:1" MONDO:0020522 "MESH:C565061" MONDO:0020522 "GTR:AN1112965" MONDO:0020522 "OMIM:130060" -MONDO:0020522 "ICD10:Q79.6" MONDO:0020522 "UMLS:CN706304" MONDO:0020522 "Orphanet:99876" MONDO:0020522 "GTR:AN1112503" MONDO:0020522 "GTR:AN1112966" +MONDO:0020522 "ICD10CM:Q79.6" MONDO:0020522 "GTR:AN1112967" MONDO:0020522 "UMLS:C1851801" MONDO:0005651 "SCTID:73730005" @@ -17878,18 +17463,17 @@ MONDO:0007245 "GARD:0003967" MONDO:0007245 "Orphanet:2678" MONDO:0007245 "UMLS:C1861975" MONDO:0007245 "UMLS:CN035858" -MONDO:0007245 "ICD10:L81.3" MONDO:0007245 "GARD:0001050" MONDO:0007245 "MESH:C537421" MONDO:0018812 "UMLS:CN776886" MONDO:0018812 "Orphanet:480536" +MONDO:0005629 "ICD10EXP:H19.2*" MONDO:0005629 "UMLS:C0000880" +MONDO:0005629 "ICD10EXP:B60.1+" MONDO:0005629 "SCTID:231896005" MONDO:0005629 "MedDRA:10069408" -MONDO:0005629 "ICD10:H19.2*" MONDO:0005629 "NCIT:C50450" MONDO:0005629 "MESH:D015823" -MONDO:0005629 "ICD10:B60.1+" MONDO:0005629 "EFO:0007126" MONDO:0005629 "Orphanet:67043" MONDO:0005629 "GARD:0009285" @@ -17898,12 +17482,10 @@ MONDO:0021378 "ICD9:239.89" MONDO:0021378 "NCIT:C5346" MONDO:0021378 "UMLS:C1290401" MONDO:0021378 "SCTID:126731002" -MONDO:0014284 "ICD10:Q77.2" MONDO:0014284 "OMIM:615630" MONDO:0014284 "UMLS:C3810175" MONDO:0014284 "DOID:0110091" MONDO:0014284 "Orphanet:140969" -MONDO:0014284 "ICD10:Q87.5" MONDO:0014284 "Orphanet:474" MONDO:0011898 "Orphanet:101097" MONDO:0011898 "OMIM:607706" @@ -17918,11 +17500,11 @@ MONDO:0018166 "UMLS:C0029171" MONDO:0018166 "DOID:5773" MONDO:0018166 "EFO:1001818" MONDO:0018166 "NCIT:C34866" -MONDO:0018166 "ICD10:K13.5" MONDO:0018166 "GARD:0007264" MONDO:0018166 "MESH:D009914" MONDO:0018166 "UMLS:C0029172" MONDO:0018166 "SCTID:32883009" +MONDO:0018166 "ICD10CM:K13.5" MONDO:0017396 "Orphanet:293815" MONDO:0008277 "NCIT:C3954" MONDO:0008277 "MESH:C562464" @@ -17936,7 +17518,6 @@ MONDO:0011626 "GARD:0010194" MONDO:0000330 "Orphanet:83315" MONDO:0000330 "MedDRA:10028282" MONDO:0000330 "NCIT:C84688" -MONDO:0000330 "ICD10:A75.2" MONDO:0000330 "DOID:0050481" MONDO:0000330 "UMLS:CN206047" MONDO:0000330 "MESH:D014437" @@ -17947,9 +17528,9 @@ MONDO:0008663 "OMIM:193230" MONDO:0008663 "MESH:C536677" MONDO:0008663 "UMLS:C1860405" MONDO:0008663 "DOID:0111570" +MONDO:0008663 "ICD10CM:H35.5" MONDO:0008663 "Orphanet:91496" MONDO:0008663 "GARD:0009706" -MONDO:0008663 "ICD10:H35.5" MONDO:0013218 "Orphanet:891" MONDO:0013218 "UMLS:C2750079" MONDO:0013218 "MESH:C567648" @@ -17959,75 +17540,71 @@ MONDO:0003724 "UMLS:C1332628" MONDO:0003724 "NCIT:C6943" MONDO:0003724 "DOID:5997" NCBITaxon:90964 "GC_ID:11" -MONDO:0045063 "NCIT:C5905" -MONDO:0045063 "UMLS:C1334548" MONDO:0001563 "NCIT:C27207" MONDO:0001563 "MESH:D000160" MONDO:0001563 "SCTID:77949003" MONDO:0001563 "UMLS:C0001163" -MONDO:0001563 "ICD10:H93.3" MONDO:0001563 "ICD9:388.5" -MONDO:0001563 "ICD10:H93.3X" MONDO:0001563 "DOID:12657" +MONDO:0045063 "NCIT:C5905" +MONDO:0045063 "UMLS:C1334548" MONDO:0007466 "OMIM:126370" MONDO:0010517 "UMLS:C4478372" MONDO:0010517 "UMLS:CN240511" MONDO:0010517 "OMIM:300991" MONDO:0016384 "Orphanet:2230" MONDO:0016384 "UMLS:CN201280" -MONDO:0016384 "ICD10:E23.0" +MONDO:0016384 "ICD10CM:E23.0" MONDO:0016384 "SCTID:721842008" MONDO:0010867 "OMIM:600331" -MONDO:0010867 "ICD10:Q87.8" +MONDO:0010867 "ICD10CM:Q87.8" MONDO:0010867 "GARD:0004223" MONDO:0010867 "Orphanet:2825" MONDO:0010867 "MESH:C537174" MONDO:0010867 "UMLS:C1838256" MONDO:0007674 "OMIM:138110" MONDO:0019760 "OMIM:217100" -MONDO:0019760 "ICD10:Q79.8" +MONDO:0019760 "ICD10CM:Q79.8" MONDO:0019760 "UMLS:C1857578" MONDO:0019760 "Orphanet:93937" NCBITaxon:35792 "GC_ID:11" -MONDO:0008850 "ICD10:Q87.8" +MONDO:0008850 "ICD10CM:Q87.8" MONDO:0008850 "OMIM:209770" MONDO:0008850 "SCTID:720748007" MONDO:0008850 "Orphanet:1488" MONDO:0008850 "MESH:C565923" -MONDO:0002965 "ICD10:Q50.5" MONDO:0002965 "UMLS:C0030584" +MONDO:0002965 "ICD10CM:Q50.4" MONDO:0002965 "SCTID:64233004" MONDO:0002965 "MESH:D010310" -MONDO:0002965 "ICD10:Q50.4" MONDO:0002965 "DOID:4333" MONDO:0012206 "SCTID:720826006" MONDO:0012206 "Orphanet:137678" MONDO:0012206 "OMIM:609162" MONDO:0012206 "MESH:C535766" MONDO:0012206 "GARD:0010220" -MONDO:0012206 "ICD10:Q77.7" +MONDO:0012206 "ICD10CM:Q77.7" MONDO:0014659 "UMLS:CN232144" MONDO:0014659 "GARD:0013113" MONDO:0014659 "OMIM:616483" MONDO:0003911 "UMLS:C1333051" MONDO:0003911 "DOID:6523" MONDO:0003911 "NCIT:C35783" +MONDO:0019738 "OMIM:609814" +MONDO:0019738 "OMIM:235400" +MONDO:0019738 "UMLS:CN206650" +MONDO:0019738 "ICD10CM:D58.8" +MONDO:0019738 "Orphanet:93579" HP:0001635 "SNOMEDCT_US:84114007" HP:0001635 "SNOMEDCT_US:42343007" HP:0001635 "UMLS:C0018801" HP:0001635 "MSH:D006333" HP:0001635 "UMLS:C0018802" -MONDO:0019738 "OMIM:609814" -MONDO:0019738 "OMIM:235400" -MONDO:0019738 "UMLS:CN206650" -MONDO:0019738 "ICD10:D58.8" -MONDO:0019738 "Orphanet:93579" +MONDO:0034846 "ICD10CM:K59.9" MONDO:0034846 "Orphanet:565641" -MONDO:0034846 "ICD10:K59.9" MONDO:0020060 "Orphanet:98157" MONDO:0004579 "UMLS:C0152439" MONDO:0004579 "SCTID:44268007" -MONDO:0004579 "ICD10:H33.10" MONDO:0004579 "ICD9:361.10" MONDO:0004579 "NCIT:C85046" MONDO:0004579 "DOID:8465" @@ -18043,21 +17620,21 @@ MONDO:0002145 "NCIT:C103186" HP:0003330 "UMLS:C4025630" MONDO:0008048 "Orphanet:169189" MONDO:0008048 "OMIM:160150" -MONDO:0008048 "NCIT:C126689" -MONDO:0008048 "ICD10:G71.2" -MONDO:0008048 "SCTID:716696006" -MONDO:0008048 "OMIM:614408" -MONDO:0008048 "DOID:0111217" MONDO:0008048 "UMLS:C1834558" MONDO:0008048 "GARD:0012719" -MONDO:0016267 "ICD10:C50" +MONDO:0008048 "ICD10CM:G71.2" +MONDO:0008048 "DOID:0111217" +MONDO:0008048 "OMIM:614408" +MONDO:0008048 "NCIT:C126689" +MONDO:0008048 "SCTID:716696006" +MONDO:0016267 "ICD10CM:C50" MONDO:0016267 "Orphanet:213721" MONDO:0026777 "OMIM:301054" MONDO:0026777 "Orphanet:596753" -MONDO:0010914 "ICD10:E71.3" MONDO:0010914 "UMLS:C1833511" MONDO:0010914 "Orphanet:228305" MONDO:0010914 "Orphanet:157" +MONDO:0010914 "ICD10CM:E71.3" MONDO:0010914 "OMIM:600649" MONDO:0010914 "MESH:C563462" MONDO:0004334 "EFO:1000398" @@ -18070,10 +17647,10 @@ MONDO:0004334 "ICDO:8150/3" MONDO:0004334 "MESH:C536126" CL:0000740 "BTO:0001800" CL:0000740 "FMA:67765" -MONDO:0019643 "ICD10:N15.8" MONDO:0019643 "Orphanet:93164" MONDO:0019643 "UMLS:CN776908" MONDO:0019643 "SCTID:717263009" +MONDO:0019643 "ICD10CM:N15.8" MONDO:0019643 "UMLS:C4273962" MONDO:0001953 "NCIT:C119028" MONDO:0001953 "MESH:D011776" @@ -18091,21 +17668,20 @@ MONDO:0020281 "Orphanet:98713" MONDO:0020281 "UMLS:CN207084" MONDO:0010045 "GARD:0002343" MONDO:0010045 "Orphanet:2823" -MONDO:0010045 "UMLS:C0795942" MONDO:0010045 "OMIM:270710" +MONDO:0010045 "UMLS:C0795942" MONDO:0010045 "MESH:C537938" -MONDO:0010045 "ICD10:G82.1" MONDO:0012888 "OMIM:612387" MONDO:0012888 "Orphanet:797" MONDO:0013962 "SCTID:723823004" MONDO:0013962 "UMLS:C4510082" +MONDO:0013962 "ICD10CM:G11.4" MONDO:0013962 "DOID:0110805" -MONDO:0013962 "ICD10:G11.4" MONDO:0013962 "UMLS:C3539494" MONDO:0013962 "OMIM:614898" MONDO:0013962 "Orphanet:319199" MONDO:0020348 "NCIT:C116927" -MONDO:0020348 "ICD10:G61.0" +MONDO:0020348 "ICD10CM:G61.0" MONDO:0020348 "Orphanet:98917" MONDO:0020348 "UMLS:CN207195" MONDO:0020348 "SCTID:716722005" @@ -18116,18 +17692,20 @@ MONDO:0010459 "OMIM:300857" MONDO:0021322 "NCIT:C4628" MONDO:0021322 "UMLS:C0348375" MONDO:0021322 "SCTID:363497007" +MONDO:0015559 "ICD10CM:C96.2" MONDO:0015559 "Orphanet:158793" -MONDO:0015559 "ICD10:C96.2" MONDO:0005066 "SCTID:75934005" +MONDO:0005066 "ICD10CM:E00-E89" MONDO:0005066 "DOID:0014667" MONDO:0005066 "MESH:D008659" MONDO:0005066 "UMLS:C0025517" -MONDO:0005066 "ICD10:E88.9" +MONDO:0005066 "ICD10CM:P70-P74" MONDO:0005066 "NCIT:C3235" +MONDO:0005066 "ICD10CM:E70-E90" MONDO:0005066 "ICD9:277.9" MONDO:0005066 "EFO:0000589" -MONDO:0005066 "ICD10:E70.E90" MONDO:0005066 "ICD9:277.8" +MONDO:0005066 "ICD10CM:E70-E88" MONDO:0022880 "SCTID:18842008" MONDO:0020125 "Orphanet:98494" MONDO:0020125 "UMLS:CN207015" @@ -18141,17 +17719,15 @@ MONDO:0014134 "UMLS:C3888002" MONDO:0002817 "DOID:3953" MONDO:0002817 "ICD9:239.7" MONDO:0002817 "MESH:D000310" -MONDO:0002817 "ICD10:C74.9" MONDO:0002817 "NCIT:C2859" MONDO:0002817 "GARD:0005751" MONDO:0002817 "SCTID:127021009" -MONDO:0002817 "ICD10:C74" MONDO:0002817 "NCIT:C9338" MONDO:0002817 "ICD9:194.0" MONDO:0016163 "Orphanet:208508" MONDO:0016163 "UMLS:CN229031" NCBITaxon:6332 "GC_ID:1" -MONDO:0018016 "ICD10:D37.3" +MONDO:0018016 "ICD10CM:D37.3" MONDO:0018016 "UMLS:CN204231" MONDO:0018016 "Orphanet:329977" MONDO:0018659 "Orphanet:447985" @@ -18160,6 +17736,7 @@ MONDO:0005137 "MESH:D009748" MONDO:0005137 "ICD9:783.9" MONDO:0005137 "SCTID:2492009" MONDO:0005137 "DOID:374" +MONDO:0005137 "ICD10CM:E00-E89" MONDO:0005137 "UMLS:C3714509" MONDO:0005137 "NCIT:C26836" MONDO:0007106 "UMLS:C1862936" @@ -18168,7 +17745,7 @@ MONDO:0007106 "OMIM:105563" MONDO:0007106 "MESH:C538254" NCBITaxon:188547 "GC_ID:1" MONDO:0017903 "UMLS:CN203963" -MONDO:0017903 "ICD10:D84.8" +MONDO:0017903 "ICD10CM:D84.8" MONDO:0017903 "Orphanet:319589" MONDO:0021543 "UMLS:C0582885" MONDO:0021543 "NCIT:C4831" @@ -18176,14 +17753,12 @@ MONDO:0021543 "SCTID:304990002" MONDO:0021543 "ICD9:228.09" MONDO:0008513 "OMIM:186000" MONDO:0008513 "UMLS:CN203278" -MONDO:0008513 "ICD10:Q70.0" MONDO:0008513 "Orphanet:93403" MONDO:0008513 "Orphanet:295195" -MONDO:0008513 "ICD10:Q70.2" MONDO:0007316 "SCTID:253185002" MONDO:0007316 "Orphanet:268882" MONDO:0007316 "MedDRA:10056944" -MONDO:0007316 "ICD10:G95.0" +MONDO:0007316 "ICD10CM:G95.0" MONDO:0007316 "OMIM:118420" HP:0004324 "UMLS:C0043094" HP:0004324 "SNOMEDCT_US:8943002" @@ -18196,13 +17771,13 @@ HP:0008066 "UMLS:C0241054" HP:0007700 "SNOMEDCT_US:65075004" HP:0007700 "UMLS:C0266525" MONDO:0017257 "Orphanet:280917" -MONDO:0017257 "ICD10:H20.0" +MONDO:0017257 "ICD10CM:H20.0" MONDO:0014379 "UMLS:C4014538" MONDO:0014379 "GARD:0012931" MONDO:0014379 "Orphanet:404448" MONDO:0014379 "DOID:0070058" +MONDO:0014379 "ICD10CM:Q87.0" MONDO:0014379 "SCTID:766824003" -MONDO:0014379 "ICD10:Q87.0" MONDO:0014379 "OMIM:615873" MONDO:0008442 "MESH:C536870" MONDO:0008442 "GARD:0004921" @@ -18212,13 +17787,12 @@ MONDO:0008442 "OMIM:182815" MONDO:0015945 "Orphanet:183422" MONDO:0015945 "UMLS:CN200541" MONDO:0002098 "MESH:D005155" +MONDO:0002098 "ICD10CM:G51" MONDO:0002098 "DOID:1756" MONDO:0002098 "ICD9:351" MONDO:0002098 "ICD9:351.9" -MONDO:0002098 "ICD10:G51.9" MONDO:0002098 "NCIT:C27594" MONDO:0002098 "UMLS:C0015464" -MONDO:0002098 "ICD10:G51" MONDO:0002098 "SCTID:422426003" MONDO:0005324 "NCIT:C92188" MONDO:0005324 "MESH:D006255" @@ -18229,9 +17803,9 @@ MONDO:0021849 "MESH:C538125" MONDO:0000786 "DOID:0060511" MONDO:0024296 "NCIT:C7388" MONDO:0001732 "ICD9:595.3" +MONDO:0001732 "ICD10CM:N30.3" MONDO:0001732 "SCTID:74445007" MONDO:0001732 "UMLS:C1261278" -MONDO:0001732 "ICD10:N30.3" MONDO:0001732 "NCIT:C123175" MONDO:0001732 "DOID:13507" MONDO:0008700 "GARD:0000376" @@ -18239,7 +17813,7 @@ MONDO:0008700 "SCTID:177504007" MONDO:0008700 "MESH:C536014" MONDO:0008700 "OMIM:200500" MONDO:0008700 "DOID:0050603" -MONDO:0008700 "ICD10:Q74.8" +MONDO:0008700 "ICD10CM:Q74.8" MONDO:0008700 "Orphanet:931" MONDO:0003326 "NCIT:C42057" MONDO:0003326 "DOID:5194" @@ -18255,11 +17829,11 @@ MONDO:0011039 "MESH:C563349" MONDO:0011039 "UMLS:C1832465" MONDO:0011039 "OMIM:601341" MONDO:0006702 "SCTID:128209004" -MONDO:0006702 "ICD10:G61.81" MONDO:0006702 "ICD9:357.89" MONDO:0006702 "ICD9:357.81" MONDO:0006702 "Orphanet:2932" MONDO:0006702 "EFO:1000868" +MONDO:0006702 "ICD10CM:G61.81" MONDO:0006702 "DOID:5213" MONDO:0006702 "NCIT:C84636" MONDO:0006702 "SCTID:444728005" @@ -18267,19 +17841,18 @@ MONDO:0006702 "MESH:D020277" MONDO:0006702 "MedDRA:10057645" MONDO:0009883 "UMLS:C2752081" MONDO:0009883 "DOID:0060601" +MONDO:0009883 "ICD10CM:D68.8" MONDO:0009883 "OMIM:262850" MONDO:0009883 "SCTID:716746003" MONDO:0009883 "MESH:C537777" MONDO:0009883 "Orphanet:79" MONDO:0009883 "GARD:0000731" -MONDO:0009883 "ICD10:D68.8" MONDO:0032854 "OMIM:618658" MONDO:0054701 "DOID:0080598" MONDO:0054701 "OMIM:617768" HP:0000858 "UMLS:C0156404" HP:0000858 "SNOMEDCT_US:80182007" MONDO:0019186 "UMLS:C0034362" -MONDO:0019186 "ICD10:A78" MONDO:0019186 "MedDRA:10037688" MONDO:0019186 "NCIT:C34970" MONDO:0019186 "MESH:D011778" @@ -18290,6 +17863,7 @@ MONDO:0019186 "DOID:11100" MONDO:0019186 "ICD9:083.0" MONDO:0019186 "SCTID:186788009" MONDO:0019186 "MedDRA:10037731" +MONDO:0019186 "ICD10CM:A78" MONDO:0015620 "UMLS:CN226715" MONDO:0015620 "Orphanet:165707" MONDO:0001368 "DOID:11793" @@ -18298,16 +17872,15 @@ MONDO:0001368 "SCTID:28143002" MONDO:0001368 "UMLS:C0155102" MONDO:0030990 "OMIM:619229" MONDO:0002314 "DOID:2475" -MONDO:0002314 "ICD10:H10.4" MONDO:0002314 "UMLS:C0155145" -MONDO:0002314 "ICD10:H10.40" +MONDO:0002314 "ICD10CM:H10.4" MONDO:0002314 "SCTID:73762008" MONDO:0002314 "ICD9:372.1" MONDO:0002314 "NCIT:C35197" MONDO:0002314 "ICD9:372.10" MONDO:0010160 "Orphanet:28378" +MONDO:0010160 "ICD10CM:E70.2" MONDO:0010160 "GARD:0003105" -MONDO:0010160 "ICD10:E70.2" MONDO:0010160 "NCIT:C129032" MONDO:0010160 "DOID:0050725" MONDO:0010160 "MedDRA:10069463" @@ -18316,18 +17889,18 @@ MONDO:0010160 "SCTID:4887000" MONDO:0016677 "Orphanet:251529" MONDO:0016677 "MESH:D000014" MONDO:0011449 "GARD:0004754" -MONDO:0011449 "ICD10:E77.8" MONDO:0011449 "SCTID:87074006" MONDO:0011449 "MedDRA:10067531" MONDO:0011449 "UMLS:C1096903" MONDO:0011449 "Orphanet:834" +MONDO:0011449 "ICD10CM:E77.8" MONDO:0011449 "Orphanet:309334" MONDO:0011449 "OMIM:604369" MONDO:0011449 "NCIT:C85067" MONDO:0000153 "MESH:D014188" -MONDO:0000153 "ICD10:Q20.3" +MONDO:0000153 "ICD10CM:Q20.3" +MONDO:0000153 "ICD10CM:Q20.5" MONDO:0000153 "NCIT:C84742" -MONDO:0000153 "ICD10:Q20.5" MONDO:0000153 "Orphanet:216675" MONDO:0006056 "DOID:5514" MONDO:0006056 "UMLS:C1336079" @@ -18347,10 +17920,9 @@ MONDO:0004744 "SCTID:193531003" MONDO:0004744 "UMLS:C1533674" MONDO:0004744 "DOID:9283" MONDO:0004744 "ICD9:365.00" -MONDO:0004744 "ICD10:H40.00" MONDO:0018706 "Orphanet:457223" +MONDO:0018706 "ICD10CM:G31.8" MONDO:0018706 "UMLS:CN242144" -MONDO:0018706 "ICD10:G31.8" MONDO:0017990 "GARD:0004421" MONDO:0017990 "OMIM:604772" MONDO:0017990 "Orphanet:3286" @@ -18358,20 +17930,19 @@ MONDO:0017990 "OMIM:614916" MONDO:0017990 "OMIM:611938" MONDO:0017990 "OMIMPS:604772" MONDO:0017990 "DOID:0060674" +MONDO:0017990 "ICD10CM:I47.2" MONDO:0017990 "OMIM:614021" MONDO:0017990 "MESH:C536334" MONDO:0017990 "OMIM:615441" -MONDO:0017990 "ICD10:I47.2" MONDO:0017990 "SCTID:419671004" MONDO:0017990 "UMLS:C1631597" MONDO:0003547 "NCIT:C43251" MONDO:0030929 "OMIM:619180" MONDO:0016885 "Orphanet:261875" -MONDO:0016885 "ICD10:Q93.5" +MONDO:0016885 "ICD10CM:Q93.5" MONDO:0013812 "Orphanet:2995" MONDO:0013812 "OMIM:614583" MONDO:0013812 "UMLS:C3281235" -MONDO:0001555 "ICD10:P72.1" MONDO:0001555 "SCTID:13795004" MONDO:0001555 "DOID:12573" MONDO:0001555 "NCIT:C114906" @@ -18380,9 +17951,9 @@ MONDO:0001555 "ICD9:775.3" MONDO:0003755 "UMLS:C1518361" MONDO:0003755 "DOID:6065" MONDO:0003755 "NCIT:C39854" +MONDO:0015841 "ICD10CM:Q51.2" MONDO:0015841 "Orphanet:180129" MONDO:0015841 "SCTID:5364006" -MONDO:0015841 "ICD10:Q51.2" MONDO:0007497 "OMIM:128290" HP:0100763 "UMLS:C0024228" HP:0100763 "SNOMEDCT_US:111590001" @@ -18410,8 +17981,8 @@ MONDO:0013741 "Orphanet:163717" MONDO:0010719 "MESH:C564066" MONDO:0010719 "OMIM:312210" MONDO:0010719 "UMLS:C1839408" -MONDO:0019448 "ICD10:G40.3" MONDO:0019448 "DOID:0111689" +MONDO:0019448 "ICD10CM:G40.3" MONDO:0019448 "OMIM:615400" MONDO:0019448 "Orphanet:86814" MONDO:0019448 "UMLS:CN206220" @@ -18431,7 +18002,6 @@ MONDO:0002996 "DOID:4435" MONDO:0000415 "DOID:0050705" MONDO:0007505 "OMIM:129000" MONDO:0015724 "SCTID:764996009" -MONDO:0015724 "ICD10:Q92.3" MONDO:0015724 "Orphanet:1702" MONDO:0009432 "OMIM:241540" MONDO:0009432 "MESH:C565477" @@ -18443,7 +18013,6 @@ MONDO:0009518 "Orphanet:548" MONDO:0009518 "OMIM:246300" MONDO:0011783 "MESH:C535745" MONDO:0011783 "NCIT:C126873" -MONDO:0011783 "ICD10:E77.8" MONDO:0011783 "UMLS:C2931001" MONDO:0011783 "Orphanet:79324" MONDO:0011783 "SCTID:711155008" @@ -18451,6 +18020,7 @@ MONDO:0011783 "OMIM:607143" MONDO:0011783 "ICD9:271.8" MONDO:0011783 "DOID:0080559" MONDO:0011783 "GARD:0009833" +MONDO:0011783 "ICD10CM:E77.8" MONDO:0020774 "Orphanet:592574" MONDO:0020774 "OMIMPS:618332" MONDO:0010906 "UMLS:C2677434" @@ -18461,8 +18031,8 @@ HP:0011420 "UMLS:C1546180" MONDO:0041154 "SCTID:236644005" MONDO:0044906 "NCIT:C39858" MONDO:0033562 "OMIM:619005" +MONDO:0019669 "ICD10CM:Q77.0" MONDO:0019669 "DOID:0080044" -MONDO:0019669 "ICD10:Q77.0" MONDO:0019669 "Orphanet:93297" MONDO:0019669 "OMIM:200610" MONDO:0012029 "MESH:C564247" @@ -18478,12 +18048,12 @@ MONDO:0011970 "UMLS:C1842531" MONDO:0003022 "DOID:4505" MONDO:0003022 "UMLS:C0279988" MONDO:0003022 "NCIT:C9174" -MONDO:0016306 "ICD10:E75.2" MONDO:0016306 "UMLS:CN201112" +MONDO:0016306 "ICD10CM:E75.2" MONDO:0016306 "Orphanet:216972" HP:0010549 "UMLS:C4021255" -MONDO:0015590 "ICD10:G13.1" MONDO:0015590 "Orphanet:163898" +MONDO:0015590 "ICD10CM:G13.1" MONDO:0001147 "SCTID:171131006" MONDO:0001147 "MESH:D008588" MONDO:0001147 "GARD:0003471" @@ -18495,28 +18065,27 @@ MONDO:0001147 "NCIT:C101209" MONDO:0001147 "Orphanet:93968" MONDO:0021145 "UMLS:C0080276" MONDO:0021145 "SCTID:42030000" -MONDO:0021145 "ICD10:N00.N99" +MONDO:0021145 "ICD10CM:N00-N99" +MONDO:0011150 "ICD10CM:E34.8" MONDO:0011150 "MESH:C536653" MONDO:0011150 "UMLS:C1866182" MONDO:0011150 "Orphanet:363665" MONDO:0011150 "GARD:0004498" MONDO:0011150 "OMIM:601812" MONDO:0011150 "GARD:0004276" -MONDO:0011150 "ICD10:E34.8" MONDO:0033092 "UMLS:CN321864" MONDO:0033092 "DOID:0080257" MONDO:0033092 "OMIM:617574" MONDO:0001030 "DOID:10428" MONDO:0001030 "ICD9:371.61" MONDO:0001030 "SCTID:193844000" -MONDO:0001030 "ICD10:H18.61" MONDO:0001030 "UMLS:C0155131" -MONDO:0019856 "ICD10:E03.1" -MONDO:0019856 "ICD10:E03.0" +MONDO:0019856 "ICD10CM:E03.1" MONDO:0019856 "Orphanet:95714" +MONDO:0019856 "ICD10CM:E03.0" +MONDO:0008303 "ICD10CM:E30.1" MONDO:0008303 "MedDRA:10063654" MONDO:0008303 "MedDRA:10063656" -MONDO:0008303 "ICD10:E30.1" MONDO:0008303 "Orphanet:3000" MONDO:0008303 "UMLS:C1504412" MONDO:0008303 "DOID:0111545" @@ -18528,7 +18097,7 @@ MONDO:0005660 "EFO:0007161" MONDO:0005660 "MESH:D045463" MONDO:0014544 "Orphanet:216812" MONDO:0014544 "DOID:0110345" -MONDO:0014544 "ICD10:Q78.0" +MONDO:0014544 "ICD10CM:Q78.0" MONDO:0014544 "OMIM:616229" MONDO:0014544 "UMLS:C4015610" HP:0011927 "UMLS:C4023124" @@ -18536,20 +18105,20 @@ HP:0011927 "UMLS:C1860176" HP:0010864 "UMLS:C0036857" HP:0010864 "SNOMEDCT_US:40700009" MONDO:0019036 "Orphanet:68" -MONDO:0019036 "ICD10:B60.1" -MONDO:0019036 "ICD10:B60.2" +MONDO:0019036 "ICD10CM:B60.1" MONDO:0019036 "GARD:0012650" MONDO:0019036 "UMLS:CN205519" +MONDO:0019036 "ICD10CM:B60.2" MONDO:0002588 "NCIT:C6454" MONDO:0002588 "ICDO:8581/1" -MONDO:0002588 "ICD10:C37" MONDO:0002588 "DOID:3279" +MONDO:0002588 "ICD10CM:D15.0" +MONDO:0002588 "ICD10CM:C37" MONDO:0002588 "UMLS:C1266091" -MONDO:0002588 "ICD10:D15.0" MONDO:0002588 "Orphanet:263310" +MONDO:0001218 "ICD10CM:J06.0" MONDO:0001218 "SCTID:55355000" MONDO:0001218 "DOID:11195" -MONDO:0001218 "ICD10:J06.0" MONDO:0001218 "UMLS:C0155817" MONDO:0001218 "ICD9:465.0" MONDO:0022586 "GARD:0000923" @@ -18558,7 +18127,6 @@ MONDO:0009024 "MESH:C565674" MONDO:0009024 "UMLS:C1857568" MONDO:0009024 "Orphanet:1389" MONDO:0009024 "OMIM:218010" -MONDO:0002471 "ICD10:M71.9" MONDO:0002471 "MESH:D002062" MONDO:0002471 "UMLS:C0006444" MONDO:0002471 "ICD9:727.3" @@ -18571,36 +18139,36 @@ MONDO:0014731 "Orphanet:466926" MONDO:0014731 "OMIM:616682" MONDO:0008286 "GARD:0001617" MONDO:0008286 "OMIM:175690" -MONDO:0008286 "ICD10:Q70.4" +MONDO:0008286 "ICD10CM:Q70.4" MONDO:0008286 "MESH:C566773" MONDO:0008286 "UMLS:C1867999" MONDO:0008286 "Orphanet:2935" NCBITaxon:1399770 "GC_ID:1" -MONDO:0018351 "ICD10:C60.1" +MONDO:0018351 "ICD10CM:C60.1" +MONDO:0018351 "ICD10CM:C60.2" MONDO:0018351 "Orphanet:398053" -MONDO:0018351 "ICD10:C60.2" -MONDO:0018351 "ICD10:C60.8" -MONDO:0018351 "ICD10:C60.0" -MONDO:0018351 "ICD10:C60.9" +MONDO:0018351 "ICD10CM:C60.9" +MONDO:0018351 "ICD10CM:C60.8" +MONDO:0018351 "ICD10CM:C60.0" MONDO:0001628 "UMLS:C0157701" MONDO:0001628 "ICD9:681.9" MONDO:0001628 "UMLS:C4082762" MONDO:0001628 "UMLS:C0157690" MONDO:0001628 "NCIT:C112214" MONDO:0001628 "MESH:D014009" +MONDO:0001628 "ICD10CM:B35.1" MONDO:0001628 "UMLS:C0157698" -MONDO:0001628 "ICD10:B35.1" MONDO:0001628 "DOID:13074" MONDO:0001628 "UMLS:C0157691" MONDO:0001628 "UMLS:C0040261" MONDO:0001628 "UMLS:C0157696" MONDO:0007089 "UMLS:C1863051" MONDO:0007089 "GARD:0012799" -MONDO:0007089 "OMIM:104310" MONDO:0007089 "DOID:0110035" +MONDO:0007089 "OMIM:104310" MONDO:0007089 "MESH:C536595" MONDO:0007089 "GARD:0009467" -MONDO:0007089 "ICD10:G30" +MONDO:0007089 "ICD10CM:G30" MONDO:0007089 "Orphanet:1020" MONDO:0003192 "NCIT:C40016" MONDO:0003192 "DOID:4895" @@ -18623,7 +18191,7 @@ MONDO:0001405 "NCIT:C34535" MONDO:0007308 "SCTID:717016001" MONDO:0007308 "NCIT:C134952" MONDO:0007308 "DOID:0110154" -MONDO:0007308 "ICD10:G60.0" +MONDO:0007308 "ICD10CM:G60.0" MONDO:0007308 "Orphanet:99946" MONDO:0007308 "GARD:0001248" MONDO:0007308 "OMIM:118210" @@ -18634,12 +18202,12 @@ MONDO:0020377 "UMLS:CN207248" MONDO:0020377 "OMIM:610019" MONDO:0020377 "OMIM:607304" MONDO:0020377 "Orphanet:98992" +MONDO:0020377 "ICD10CM:Q12.0" MONDO:0020377 "OMIM:115800" MONDO:0020377 "OMIM:609376" MONDO:0020377 "OMIM:605728" MONDO:0020377 "OMIM:601202" MONDO:0020377 "OMIM:613763" -MONDO:0020377 "ICD10:Q12.0" MONDO:0020377 "OMIM:116300" MONDO:0020377 "OMIM:614422" MONDO:0020377 "OMIM:115660" @@ -18647,7 +18215,6 @@ MONDO:0020377 "OMIM:116400" MONDO:0011562 "UMLS:C1854182" MONDO:0011562 "DOID:0060895" MONDO:0011562 "OMIM:605543" -MONDO:0011562 "ICD10:G20" MONDO:0011562 "Orphanet:411602" MONDO:0011562 "MESH:C565324" MONDO:0010509 "OMIM:300983" @@ -18656,31 +18223,31 @@ HP:0000991 "SNOMEDCT_US:63103006" HP:0000991 "UMLS:C0043325" HP:0000991 "MSH:D014973" MONDO:0030038 "OMIM:618880" +MONDO:0005964 "ICD10CM:J32.3" MONDO:0005964 "NCIT:C35031" MONDO:0005964 "MESH:D015524" MONDO:0005964 "EFO:0007489" MONDO:0005964 "SCTID:13266007" MONDO:0005964 "UMLS:C0037886" MONDO:0005964 "DOID:10794" -MONDO:0005964 "ICD10:J32.3" MONDO:0018572 "UMLS:CN237585" -MONDO:0018572 "ICD10:Q87.8" +MONDO:0018572 "ICD10CM:Q87.8" MONDO:0018572 "Orphanet:436141" NCBITaxon:5722 "GC_ID:1" MONDO:0011633 "SCTID:717010007" -MONDO:0011633 "ICD10:G60.0" MONDO:0011633 "GARD:0001250" MONDO:0011633 "Orphanet:99937" MONDO:0011633 "DOID:0110182" +MONDO:0011633 "ICD10CM:G60.0" MONDO:0011633 "OMIM:606071" MONDO:0015022 "OMIM:617333" MONDO:0015022 "UMLS:C4310617" MONDO:0015022 "EFO:0009070" MONDO:0016580 "GARD:0006232" -MONDO:0016580 "ICD10:Q33.0" MONDO:0016580 "SCTID:111318005" MONDO:0016580 "NCIT:C98892" MONDO:0016580 "MESH:D015615" +MONDO:0016580 "ICD10CM:Q33.0" MONDO:0016580 "Orphanet:2444" MONDO:0012144 "DOID:0110952" MONDO:0012144 "MESH:C563839" @@ -18691,11 +18258,9 @@ MONDO:0012144 "Orphanet:3440" MONDO:0002137 "ICD9:373.3" MONDO:0002137 "SCTID:111524003" MONDO:0002137 "DOID:1894" -MONDO:0002137 "ICD10:H01.1" MONDO:0002137 "UMLS:C0155176" MONDO:0024335 "SCTID:230507009" MONDO:0003274 "DOID:5093" -MONDO:0003274 "ICD10:C76.1" MONDO:0003274 "UMLS:C0039981" MONDO:0003274 "NCIT:C3576" MONDO:0003274 "UMLS:C0153661" @@ -18704,7 +18269,7 @@ MONDO:0003274 "NCIT:C3406" MONDO:0003274 "SCTID:255058005" MONDO:0003274 "ICD9:195.1" MONDO:0008694 "SCTID:733086003" -MONDO:0008694 "ICD10:Q87.8" +MONDO:0008694 "ICD10CM:Q87.8" MONDO:0008694 "OMIM:200130" MONDO:0008694 "MESH:C563111" MONDO:0008694 "UMLS:C0796125" @@ -18716,7 +18281,6 @@ MONDO:0054727 "DOID:0070181" MONDO:0014323 "OMIM:615725" MONDO:0014323 "DOID:0110374" MONDO:0014323 "UMLS:C3810380" -MONDO:0014323 "ICD10:H35.5" MONDO:0006650 "MESH:D020759" MONDO:0006650 "DOID:6712" MONDO:0006650 "UMLS:C0221069" @@ -18724,25 +18288,25 @@ MONDO:0006650 "SCTID:2972007" MONDO:0006650 "MedDRA:10002703" MONDO:0006650 "EFO:1000810" MONDO:0006650 "ICD9:433.80" -MONDO:0018869 "ICD10:Q04.3" MONDO:0018869 "Orphanet:51577" MONDO:0018869 "SCTID:253149002" +MONDO:0018869 "ICD10CM:Q04.3" MONDO:0013260 "Orphanet:73247" MONDO:0013260 "UMLS:C3150679" MONDO:0013260 "OMIM:613412" MONDO:0018071 "NCIT:C36626" -MONDO:0018071 "ICD10:Q91.3" +MONDO:0018071 "ICD10CM:Q91.1" +MONDO:0018071 "ICD10CM:Q91.2" MONDO:0018071 "MESH:C580500" MONDO:0018071 "MedDRA:10053884" MONDO:0018071 "Orphanet:3380" MONDO:0018071 "UMLS:C0152096" -MONDO:0018071 "ICD10:Q91.2" +MONDO:0018071 "ICD10CM:Q91.0" MONDO:0018071 "SCTID:51500006" MONDO:0018071 "GARD:0006321" MONDO:0018071 "ICD9:758.2" MONDO:0018071 "DOID:1085" -MONDO:0018071 "ICD10:Q91.1" -MONDO:0018071 "ICD10:Q91.0" +MONDO:0018071 "ICD10CM:Q91.3" MONDO:0010874 "OMIM:600351" MONDO:0010874 "UMLS:C1838238" MONDO:0010874 "MESH:C563949" @@ -18764,23 +18328,22 @@ MONDO:0003578 "UMLS:C1334582" MONDO:0003578 "NCIT:C8885" MONDO:0003578 "DOID:5677" MONDO:0100096 "MESH:C000657245" -MONDO:0100096 "ICD10:U07.1" MONDO:0100096 "ICD11:RA01.0" MONDO:0100096 "ICD11:RA01.2" MONDO:0100096 "SCTID:840539006" MONDO:0100096 "MESH:D000086382" +MONDO:0100096 "ICD10CM:U07.1" MONDO:0100096 "DOID:0080600" -MONDO:0100096 "ICD10:U07.2" MONDO:0015243 "EFO:0007140" -MONDO:0015243 "ICD10:J99.8*" +MONDO:0015243 "ICD10EXP:B44.1+" MONDO:0015243 "OMIM:103920" -MONDO:0015243 "ICD10:B44.81" MONDO:0015243 "MESH:D001229" -MONDO:0015243 "ICD10:B44.1+" MONDO:0015243 "DOID:13166" MONDO:0015243 "ICD9:518.6" +MONDO:0015243 "ICD10EXP:J99.8*" MONDO:0015243 "UMLS:C0004031" MONDO:0015243 "SCTID:37981002" +MONDO:0015243 "ICD10CM:B44.81" MONDO:0015243 "MedDRA:10006474" MONDO:0015243 "Orphanet:1164" MONDO:0015243 "NCIT:C84547" @@ -18788,17 +18351,17 @@ MONDO:0015243 "GARD:0000602" MONDO:0015529 "UMLS:C1399352" MONDO:0015529 "SCTID:443094001" MONDO:0015529 "Orphanet:157835" -MONDO:0015529 "ICD10:G44.0" MONDO:0015529 "MESH:D051302" MONDO:0015529 "GARD:0010794" MONDO:0015529 "ICD9:339.03" MONDO:0015529 "EFO:1001822" MONDO:0015529 "MedDRA:10019461" +MONDO:0015529 "ICD10CM:G44.0" +MONDO:0009276 "ICD10CM:D69.1" MONDO:0009276 "MESH:D001606" MONDO:0009276 "NCIT:C84595" MONDO:0009276 "DOID:2217" MONDO:0009276 "UMLS:C0005129" -MONDO:0009276 "ICD10:D69.1" MONDO:0009276 "OMIM:231200" MONDO:0009276 "MedDRA:10057473" MONDO:0009276 "Orphanet:274" @@ -18821,7 +18384,6 @@ MONDO:0008079 "OMIM:162240" MONDO:0008079 "UMLS:C1834232" MONDO:0008079 "GARD:0010543" MONDO:0008079 "MESH:C563522" -MONDO:0001008 "ICD10:H02.52" MONDO:0001008 "ICD9:374.46" MONDO:0001008 "DOID:10348" MONDO:0001008 "MESH:D016569" @@ -18844,36 +18406,36 @@ MONDO:0007713 "OMIM:141405" MONDO:0007713 "UMLS:C3536936" MONDO:0007713 "Orphanet:221083" MONDO:0007713 "MESH:C564198" -MONDO:0007713 "ICD10:G51.3" +MONDO:0007713 "ICD10CM:G51.3" MONDO:0032706 "OMIM:618369" MONDO:0032706 "DOID:0111616" MONDO:0015939 "UMLS:CN200529" MONDO:0015939 "Orphanet:182228" -MONDO:0014804 "ICD10:D64.0" +MONDO:0014804 "ICD10CM:D64.0" MONDO:0014804 "SCTID:720465002" MONDO:0014804 "OMIM:616860" MONDO:0014804 "DOID:0080343" MONDO:0014804 "Orphanet:255132" MONDO:0012552 "OMIM:610755" MONDO:0012552 "NCIT:C157449" +MONDO:0012552 "ICD10CM:D44.8" MONDO:0012552 "SCTID:715907003" MONDO:0012552 "UMLS:C1970712" MONDO:0012552 "MESH:C567059" MONDO:0012552 "Orphanet:276152" MONDO:0012552 "UMLS:C4274947" MONDO:0012552 "DOID:0080137" -MONDO:0012552 "ICD10:D44.8" MONDO:0044202 "OMIMPS:128200" MONDO:0044202 "Orphanet:98809" MONDO:0017195 "UMLS:C1850168" MONDO:0017195 "OMIM:609220" MONDO:0017195 "MedDRA:10063718" -MONDO:0017195 "ICD10:M21.8" MONDO:0017195 "DOID:0060231" MONDO:0017195 "ICD9:733.99" MONDO:0017195 "OMIM:259450" MONDO:0017195 "Orphanet:2771" MONDO:0017195 "UMLS:C1836602" +MONDO:0017195 "ICD10CM:M21.8" MONDO:0017195 "UMLS:C0432253" MONDO:0017195 "SCTID:254113006" MONDO:0021218 "GARD:0007403" @@ -18885,8 +18447,8 @@ CL:0000134 "BTO:0002625" MONDO:0019201 "UMLS:C0268446" MONDO:0019201 "OMIMPS:188580" MONDO:0019201 "SCTID:30967002" +MONDO:0019201 "ICD10CM:G72.3" MONDO:0019201 "OMIM:614834" -MONDO:0019201 "ICD10:G72.3" MONDO:0019201 "MedDRA:10043788" MONDO:0019201 "OMIM:613239" MONDO:0019201 "OMIM:188580" @@ -18906,7 +18468,6 @@ MONDO:0005129 "OMIM:616279" MONDO:0005129 "ICD9:366.8" MONDO:0005129 "DOID:83" MONDO:0005129 "ICD9:366.44" -MONDO:0005129 "ICD10:H26" MONDO:0005129 "OMIM:601371" MONDO:0005129 "OMIM:616509" NCBITaxon:71585 "PMID:25185665" @@ -18920,38 +18481,38 @@ CL:0002313 "CALOHA:TS-1280" MONDO:0013993 "SCTID:718605009" MONDO:0013993 "OMIM:614969" MONDO:0013993 "UMLS:C3554226" +MONDO:0013993 "ICD10CM:Q04.3" MONDO:0013993 "Orphanet:284339" MONDO:0013993 "DOID:0060276" -MONDO:0013993 "ICD10:Q04.3" MONDO:0017574 "GARD:0012744" +MONDO:0017574 "ICD10CM:K59.8" MONDO:0017574 "OMIM:300048" MONDO:0017574 "SCTID:235828008" MONDO:0017574 "OMIM:609629" MONDO:0017574 "OMIM:601223" -MONDO:0017574 "ICD10:K59.8" MONDO:0017574 "Orphanet:2978" MONDO:0017574 "OMIM:243180" MONDO:0001407 "SCTID:363432004" MONDO:0001407 "NCIT:C9346" +MONDO:0001407 "ICD10CM:C33" MONDO:0001407 "UMLS:C0153489" MONDO:0001407 "ICD9:162.0" MONDO:0001407 "DOID:11920" -MONDO:0001407 "ICD10:C33" MONDO:0019130 "UMLS:CN205654" MONDO:0019130 "Orphanet:73224" -MONDO:0019130 "ICD10:N25.8" +MONDO:0019130 "ICD10CM:N25.8" HP:0011446 "UMLS:C4023352" -MONDO:0004607 "ICD10:C10.0" MONDO:0004607 "UMLS:C0153386" MONDO:0004607 "ICD9:146.3" MONDO:0004607 "SCTID:363395000" MONDO:0004607 "DOID:8556" +MONDO:0004607 "ICD10CM:C10.0" MONDO:0013134 "MESH:C567753" MONDO:0013134 "UMLS:C2751294" MONDO:0013134 "OMIM:613100" MONDO:0009688 "OMIM:159400" -MONDO:0009688 "ICD10:G70.0" MONDO:0009688 "DOID:437" +MONDO:0009688 "ICD10CM:G70.0" MONDO:0009688 "MESH:D009157" MONDO:0009688 "GARD:0007122" MONDO:0009688 "ICD9:358.0" @@ -18960,7 +18521,6 @@ MONDO:0009688 "OMIM:254200" MONDO:0009688 "NCIT:C60989" MONDO:0009688 "MedDRA:10028417" MONDO:0009688 "UMLS:C0026896" -MONDO:0009688 "ICD10:G70.00" MONDO:0009688 "Orphanet:589" MONDO:0009688 "EFO:0004991" MONDO:0009688 "SCTID:91637004" @@ -18981,7 +18541,6 @@ MONDO:0022804 "GARD:0001442" MONDO:0001741 "DOID:13543" MONDO:0001741 "UMLS:C0020502" MONDO:0001741 "SCTID:66999008" -MONDO:0001741 "ICD10:E21.3" MONDO:0001741 "NCIT:C48259" MONDO:0001741 "EFO:0008506" MONDO:0001741 "ICD9:252.00" @@ -19016,35 +18575,35 @@ MONDO:0017795 "MedDRA:10066796" MONDO:0017795 "NCIT:C4313" MONDO:0017795 "SCTID:285311001" MONDO:0017795 "UMLS:C0002448" -MONDO:0017795 "ICD10:C41.1" MONDO:0017795 "DOID:0050894" MONDO:0017795 "MESH:D000564" +MONDO:0017795 "ICD10CM:C41.1" MONDO:0017795 "GARD:0005747" MONDO:0017795 "ICDO:9310/0" MONDO:0017795 "Orphanet:314419" MONDO:0008505 "OMIM:185540" MONDO:0007831 "OMIM:147540" MONDO:0000827 "EFO:1001418" -MONDO:0000827 "ICD10:A02.9" -MONDO:0000827 "ICD10:A02.8" MONDO:0000827 "ICD9:003.0" +MONDO:0000827 "ICD10CM:A02.1" +MONDO:0000827 "ICD10CM:A01.3" +MONDO:0000827 "ICD10CM:A02.0" MONDO:0000827 "ICD9:003.9" MONDO:0000827 "ICD9:003.8" -MONDO:0000827 "ICD10:A01.4" -MONDO:0000827 "ICD10:A01.3" MONDO:0000827 "DOID:0060859" +MONDO:0000827 "ICD10CM:A02.9" +MONDO:0000827 "ICD10CM:A02.8" MONDO:0000827 "UMLS:C0036117" MONDO:0000827 "MedDRA:10039447" MONDO:0000827 "MESH:D012480" +MONDO:0000827 "ICD10CM:A01.0" MONDO:0000827 "Orphanet:795" -MONDO:0000827 "ICD10:A02.1" -MONDO:0000827 "ICD10:A02.0" MONDO:0000827 "SCTID:302231008" -MONDO:0000827 "ICD10:A01.0" -MONDO:0000827 "ICD10:A02.2" -MONDO:0000827 "ICD10:A01.2" +MONDO:0000827 "ICD10CM:A02.2" +MONDO:0000827 "ICD10CM:A01.4" +MONDO:0000827 "ICD10CM:A01.2" +MONDO:0000827 "ICD10CM:A01.1" MONDO:0000827 "UMLS:CN205993" -MONDO:0000827 "ICD10:A01.1" MONDO:0013619 "DOID:0080384" MONDO:0013619 "UMLS:C3280100" MONDO:0013619 "OMIM:614196" @@ -19058,7 +18617,7 @@ MONDO:0005483 "EFO:0005400" MONDO:0009946 "MESH:C564859" MONDO:0009946 "UMLS:C1849507" MONDO:0009946 "OMIM:266120" -MONDO:0009946 "ICD10:D55.3" +MONDO:0009946 "ICD10CM:D55.3" MONDO:0009946 "Orphanet:35120" MONDO:0010015 "DOID:0060648" MONDO:0010015 "OMIM:269400" @@ -19066,16 +18625,15 @@ MONDO:0010015 "Orphanet:289499" MONDO:0010015 "UMLS:C3151617" MONDO:0013238 "UMLS:C3150607" MONDO:0013238 "SCTID:719584008" -MONDO:0013238 "ICD10:Q93.5" MONDO:0013238 "DOID:0060405" MONDO:0013238 "OMIM:613355" +MONDO:0013238 "ICD10CM:Q93.5" MONDO:0013238 "GARD:0010936" MONDO:0013238 "UMLS:C4304591" MONDO:0013238 "Orphanet:261279" MONDO:0013414 "OMIM:613769" MONDO:0013414 "UMLS:C3151068" MONDO:0013414 "DOID:0110394" -MONDO:0013414 "ICD10:H35.5" MONDO:0033014 "OMIM:617526" MONDO:0033014 "Orphanet:317" MONDO:0033014 "DOID:0080250" @@ -19106,17 +18664,17 @@ MONDO:0011456 "OMIM:604387" MONDO:0011456 "DOID:0111114" MONDO:0008499 "GARD:0004856" MONDO:0008499 "OMIM:185120" -MONDO:0008499 "ICD10:Q87.1" +MONDO:0008499 "ICD10CM:Q87.1" MONDO:0008499 "SCTID:763631006" MONDO:0008499 "MESH:C566105" MONDO:0008499 "Orphanet:2863" MONDO:0008499 "UMLS:C1861448" MONDO:0030982 "OMIM:619221" -MONDO:0017006 "ICD10:Q98.8" MONDO:0017006 "Orphanet:263749" +MONDO:0017006 "ICD10CM:Q98.8" MONDO:0018564 "Orphanet:435638" MONDO:0018564 "UMLS:CN237571" -MONDO:0018564 "ICD10:Q93.5" +MONDO:0018564 "ICD10CM:Q93.5" MONDO:0012402 "OMIM:610064" MONDO:0001399 "DOID:11887" MONDO:0001399 "UMLS:C1336875" @@ -19125,10 +18683,9 @@ MONDO:0002473 "NCIT:C34750" MONDO:0002473 "SCTID:722223000" MONDO:0002473 "UMLS:C0022679" MONDO:0002473 "MESH:D052177" -MONDO:0002473 "ICD10:Q61" +MONDO:0002473 "ICD10CM:Q61" MONDO:0002473 "DOID:2975" MONDO:0009441 "Orphanet:313" -MONDO:0009441 "ICD10:Q80.2" MONDO:0009441 "UMLS:C3536797" MONDO:0009441 "DOID:0060656" MONDO:0009441 "GARD:0003170" @@ -19138,13 +18695,11 @@ MONDO:0009441 "Orphanet:100976" MONDO:0009441 "MESH:D017490" MONDO:0007161 "OMIM:108420" MONDO:0007161 "DOID:0070164" -MONDO:0004775 "ICD10:H20.2" MONDO:0004775 "DOID:9388" MONDO:0004775 "UMLS:C0339320" MONDO:0004775 "SCTID:70461003" MONDO:0004775 "ICD9:364.23" MONDO:0014050 "OMIM:615113" -MONDO:0014050 "ICD10:Q11.0" MONDO:0014050 "UMLS:C3554524" MONDO:0014050 "DOID:0060841" MONDO:0014050 "Orphanet:2542" @@ -19161,16 +18716,16 @@ MONDO:0015048 "SCTID:109475005" MONDO:0015048 "Orphanet:100033" MONDO:0015048 "ICD9:520.5" MONDO:0015048 "OMIM:612529" -MONDO:0015048 "ICD10:K00.5" MONDO:0015048 "OMIM:617217" MONDO:0015048 "OMIM:615887" MONDO:0015048 "OMIM:301200" MONDO:0015048 "GARD:0008349" +MONDO:0015048 "ICD10CM:K00.5" MONDO:0015048 "OMIM:204700" +MONDO:0013291 "ICD10CM:E74.0" MONDO:0013291 "DOID:0050579" MONDO:0013291 "OMIM:613507" MONDO:0013291 "UMLS:C3150754" -MONDO:0013291 "ICD10:E74.0" MONDO:0013291 "Orphanet:263297" MONDO:0013291 "SCTID:717821004" MONDO:0017227 "Orphanet:280302" @@ -19178,10 +18733,10 @@ MONDO:0017227 "UMLS:CN202712" MONDO:0017227 "PMID:25985088" MONDO:0017227 "UMLS:C4302243" MONDO:0017227 "EFO:1000780" -MONDO:0017227 "ICD10:K86.1" MONDO:0017227 "SCTID:722872000" +MONDO:0017227 "ICD10CM:K86.1" MONDO:0008108 "Orphanet:1647" -MONDO:0008108 "ICD10:Q87.8" +MONDO:0008108 "ICD10CM:Q87.8" MONDO:0008108 "OMIM:164180" MONDO:0008108 "MESH:C538088" MONDO:0008108 "SCTID:403554008" @@ -19190,9 +18745,9 @@ MONDO:0008108 "GARD:0000106" MONDO:0008108 "UMLS:C0796092" MONDO:0011824 "OMIM:607373" NCBITaxon:5094 "GC_ID:1" +MONDO:0016489 "ICD10CM:D56.2" MONDO:0016489 "ICD9:282.49" MONDO:0016489 "NCIT:C172823" -MONDO:0016489 "ICD10:D56.2" MONDO:0016489 "Orphanet:231237" MONDO:0016489 "SCTID:16360009" MONDO:0016489 "MESH:C562716" @@ -19200,9 +18755,9 @@ MONDO:0016489 "OMIM:141749" MONDO:0016489 "MedDRA:10012236" MONDO:0015235 "Orphanet:1130" MONDO:0015235 "UMLS:CN197590" -MONDO:0015235 "ICD10:Q87.8" MONDO:0015235 "GARD:0000764" MONDO:0015235 "SCTID:720502000" +MONDO:0015235 "ICD10CM:Q87.8" MONDO:0017435 "Orphanet:294963" MONDO:0017435 "Orphanet:1300" MONDO:0017435 "NCIT:C118786" @@ -19213,31 +18768,30 @@ MONDO:0017435 "MESH:C562509" MONDO:0017435 "DOID:0060055" MONDO:0017435 "ICD9:756.89" MONDO:0017435 "UMLS:C0265259" -MONDO:0012396 "OMIM:610021" -MONDO:0012396 "Orphanet:165991" MONDO:0012396 "SCTID:715830008" -MONDO:0012396 "DOID:0070214" -MONDO:0012396 "GARD:0009932" +MONDO:0012396 "Orphanet:165991" MONDO:0012396 "UMLS:C1864902" -MONDO:0012396 "ICD10:E16.1" MONDO:0012396 "NCIT:C131839" +MONDO:0012396 "OMIM:610021" MONDO:0012396 "UMLS:C1864904" +MONDO:0012396 "GARD:0009932" +MONDO:0012396 "ICD10CM:E16.1" +MONDO:0012396 "DOID:0070214" MONDO:0012396 "MESH:C538376" +MONDO:0019865 "ICD10CM:Q92.1" MONDO:0019865 "Orphanet:96059" -MONDO:0019865 "ICD10:Q92.1" MONDO:0019865 "SCTID:764628000" MONDO:0018668 "Orphanet:449280" -MONDO:0018668 "ICD10:B48.7" MONDO:0009549 "Orphanet:827" MONDO:0009549 "UMLS:C1855465" +MONDO:0009549 "ICD10CM:H35.5" MONDO:0009549 "Orphanet:364055" MONDO:0009549 "OMIM:248200" MONDO:0009549 "UMLS:C0271093" -MONDO:0009549 "ICD10:H35.5" MONDO:0009549 "SCTID:716663009" MONDO:0018813 "Orphanet:480541" MONDO:0016676 "UMLS:C1860229" -MONDO:0016676 "ICD10:E83.2" +MONDO:0016676 "ICD10CM:E83.2" MONDO:0016676 "Orphanet:251523" MONDO:0016676 "OMIM:194470" MONDO:0013798 "UMLS:C3281152" @@ -19246,27 +18800,26 @@ MONDO:0013798 "DOID:0060401" MONDO:0014740 "UMLS:C4225240" MONDO:0014740 "OMIM:616707" MONDO:0014740 "DOID:0110589" -MONDO:0014740 "ICD10:H90.3" MONDO:0004250 "UMLS:C1333510" MONDO:0004250 "NCIT:C5849" MONDO:0004250 "DOID:7503" NCBITaxon:1648038 "GC_ID:1" +MONDO:0018167 "ICD10CM:Q82.8" MONDO:0018167 "Orphanet:357220" MONDO:0018167 "UMLS:CN204615" -MONDO:0018167 "ICD10:Q82.8" MONDO:0018167 "SCTID:765135003" MONDO:0017397 "Orphanet:293830" -MONDO:0017397 "ICD10:D64.4" +MONDO:0017397 "ICD10CM:D64.4" +MONDO:0016855 "ICD10CM:Q43.1" MONDO:0016855 "UMLS:CN202198" MONDO:0016855 "Orphanet:261537" -MONDO:0016855 "ICD10:Q43.1" MONDO:0011627 "UMLS:C1853755" MONDO:0011627 "OMIM:606053" CL:0000336 "FMA:69262" MONDO:0020347 "OMIM:139393" MONDO:0020347 "UMLS:CN207194" +MONDO:0020347 "ICD10CM:G61.0" MONDO:0020347 "Orphanet:98916" -MONDO:0020347 "ICD10:G61.0" MONDO:0020347 "NCIT:C116926" MONDO:0010458 "Orphanet:440" MONDO:0010458 "OMIM:300856" @@ -19278,7 +18831,6 @@ MONDO:0005769 "UMLS:C0458220" MONDO:0005769 "EFO:0007281" MONDO:0005769 "ICD9:351.8" MONDO:0005769 "SCTID:95670000" -MONDO:0005769 "ICD10:B02.21" MONDO:0009220 "OMIM:228100" MONDO:0009220 "ICD9:571.8" MONDO:0009220 "GARD:0008514" @@ -19295,19 +18847,19 @@ MONDO:0008023 "GARD:0002417" MONDO:0008023 "OMIM:158500" MONDO:0008023 "Orphanet:2579" MONDO:0008023 "SCTID:237611007" -MONDO:0009394 "ICD10:M88.0" MONDO:0009394 "OMIM:239000" MONDO:0009394 "NCIT:C131861" +MONDO:0009394 "ICD10CM:M88.0" MONDO:0009394 "GARD:0002831" -MONDO:0009394 "ICD10:M88.8" +MONDO:0009394 "ICD10CM:M88.9" +MONDO:0009394 "ICD10CM:M88.8" MONDO:0009394 "SCTID:9723006" MONDO:0009394 "MESH:C537701" -MONDO:0009394 "ICD10:M88.9" MONDO:0009394 "Orphanet:2801" MONDO:0016385 "UMLS:C2931685" MONDO:0016385 "SCTID:721841001" -MONDO:0016385 "ICD10:Q87.8" MONDO:0016385 "Orphanet:2233" +MONDO:0016385 "ICD10CM:Q87.8" MONDO:0016385 "GARD:0001078" MONDO:0016385 "MESH:C537981" MONDO:0021379 "NCIT:C5347" @@ -19342,17 +18894,16 @@ MONDO:0007011 "DOID:13404" MONDO:0007011 "EFO:1001232" MONDO:0007011 "UMLS:C0042171" MONDO:0007011 "SCTID:31541009" -MONDO:0007011 "ICD10:D86.89" MONDO:0007011 "SCTID:4416007" MONDO:0007011 "MESH:D014608" MONDO:0020418 "UMLS:C0267073" -MONDO:0020418 "ICD10:Q25.4" MONDO:0020418 "SCTID:231719009" MONDO:0020418 "Orphanet:99082" MONDO:0020418 "ICD9:787.29" +MONDO:0020418 "ICD10CM:Q25.4" MONDO:0016268 "UMLS:CN201057" MONDO:0016268 "Orphanet:213726" -MONDO:0016268 "ICD10:C54.1" +MONDO:0016268 "ICD10CM:C54.1" MONDO:0015640 "SCTID:765756007" MONDO:0015640 "Orphanet:166305" MONDO:0013219 "OMIM:613312" @@ -19363,8 +18914,8 @@ MONDO:0009610 "Orphanet:67046" MONDO:0009610 "DOID:0110002" MONDO:0009610 "OMIM:250950" MONDO:0009610 "NCIT:C98683" -MONDO:0009610 "ICD10:E71.1" MONDO:0009610 "MESH:C562801" +MONDO:0009610 "ICD10CM:E71.1" MONDO:0009610 "UMLS:C0342728" MONDO:0009610 "SCTID:237951008" MONDO:0009610 "GARD:0010321" @@ -19375,7 +18926,6 @@ HP:0000366 "UMLS:C0240547" HP:0000366 "UMLS:C0265736" HP:0000366 "SNOMEDCT_US:72089000" MONDO:0001564 "ICD9:368.30" -MONDO:0001564 "ICD10:H53.30" MONDO:0001564 "NCIT:C34422" MONDO:0001564 "SCTID:83275001" MONDO:0001564 "DOID:12667" @@ -19383,12 +18933,12 @@ MONDO:0007467 "OMIM:126390" MONDO:0002510 "DOID:3095" MONDO:0002510 "MESH:D009373" MONDO:0001954 "ICD9:453.1" +MONDO:0001954 "ICD10CM:I82.1" MONDO:0001954 "DOID:14392" -MONDO:0001954 "ICD10:I82.1" MONDO:0001954 "UMLS:C0152250" MONDO:0001954 "SCTID:31268005" MONDO:0004940 "SCTID:85051008" -MONDO:0004940 "ICD10:N73.3" +MONDO:0004940 "ICD10CM:N73.3" MONDO:0004940 "DOID:9978" MONDO:0004940 "UMLS:C0269032" MONDO:0004940 "ICD9:614.5" @@ -19398,8 +18948,8 @@ MONDO:0021050 "EFO:1001447" MONDO:0021050 "ICD9:239.5" MONDO:0021050 "SCTID:126921000" MONDO:0032666 "OMIM:618307" -MONDO:0019761 "ICD10:Q32.1" MONDO:0019761 "Orphanet:93938" +MONDO:0019761 "ICD10CM:Q32.1" MONDO:0019761 "UMLS:CN206696" NCBITaxon:35793 "PMID:17114787" NCBITaxon:35793 "GC_ID:11" @@ -19408,9 +18958,9 @@ MONDO:0012207 "MESH:C537059" MONDO:0012207 "GARD:0009490" MONDO:0012207 "UMLS:C1836682" MONDO:0010046 "OMIM:270750" +MONDO:0010046 "ICD10CM:G11.4" MONDO:0010046 "UMLS:C0796019" MONDO:0010046 "DOID:0110774" -MONDO:0010046 "ICD10:G11.4" MONDO:0010046 "SCTID:726608002" MONDO:0010046 "MESH:C536859" MONDO:0010046 "GARD:0000336" @@ -19421,7 +18971,6 @@ MONDO:0011120 "UMLS:C1866558" MONDO:0011120 "Orphanet:268357" MONDO:0054700 "OMIM:618048" MONDO:0054700 "UMLS:CN252342" -MONDO:0010915 "ICD10:H90.3" MONDO:0010915 "MESH:C563460" MONDO:0010915 "UMLS:C1833503" MONDO:0010915 "DOID:0110573" @@ -19433,27 +18982,25 @@ MONDO:0005522 "NCIT:C7724" MONDO:0005522 "DOID:4907" MONDO:0019644 "Orphanet:93172" MONDO:0019644 "HP:0008718" -MONDO:0019644 "ICD10:Q61.4" +MONDO:0019644 "ICD10CM:Q61.4" MONDO:0020126 "Orphanet:98496" MONDO:0011448 "Orphanet:79083" +MONDO:0011448 "ICD10CM:E88.1" MONDO:0011448 "GARD:0012600" -MONDO:0011448 "ICD10:E88.1" MONDO:0011448 "DOID:0070204" MONDO:0011448 "OMIM:604367" MONDO:0006759 "ICD9:355.2" MONDO:0006759 "UMLS:C0751931" -MONDO:0006759 "ICD10:G57.2" MONDO:0006759 "NCIT:C27595" -MONDO:0006759 "ICD10:G57.20" MONDO:0006759 "SCTID:25690000" MONDO:0006759 "DOID:4196" MONDO:0006759 "MESH:D020428" MONDO:0006759 "EFO:1000936" -MONDO:0013648 "ICD10:L81.4" MONDO:0013648 "Orphanet:79146" MONDO:0013648 "UMLS:CN205811" MONDO:0013648 "UMLS:C1840392" MONDO:0013648 "UMLS:C1835039" +MONDO:0013648 "ICD10CM:L81.4" MONDO:0013648 "SCTID:715630006" MONDO:0013648 "OMIM:145250" MONDO:0013648 "OMIM:614233" @@ -19471,7 +19018,6 @@ MONDO:0007896 "ICD9:206.0" MONDO:0007896 "MedDRA:10059439" MONDO:0007896 "ONCOTREE:AMOL" MONDO:0007896 "SCTID:413441006" -MONDO:0007896 "ICD10:C92.7" MONDO:0007896 "Orphanet:514" MONDO:0007896 "MESH:D007948" MONDO:0007896 "OMIM:151380" @@ -19482,7 +19028,7 @@ MONDO:0007896 "GARD:0000525" HP:0000646 "MSH:D000550" HP:0000646 "UMLS:C0002418" HP:0000646 "SNOMEDCT_US:387742006" -MONDO:0018017 "ICD10:C18.1" +MONDO:0018017 "ICD10CM:C18.1" MONDO:0018017 "GARD:0010414" MONDO:0018017 "Orphanet:329984" MONDO:0020282 "UMLS:CN207085" @@ -19491,18 +19037,16 @@ MONDO:0001460 "ICD9:246.1" MONDO:0001460 "UMLS:C0152077" MONDO:0001460 "SCTID:190304001" MONDO:0001460 "DOID:12175" -MONDO:0001460 "ICD10:E07.1" MONDO:0012889 "OMIM:612388" MONDO:0012889 "Orphanet:797" MONDO:0013963 "DOID:0110537" MONDO:0013963 "OMIM:614899" -MONDO:0013963 "ICD10:H90.3" MONDO:0020349 "UMLS:C3890941" +MONDO:0020349 "ICD10CM:G61.0" MONDO:0020349 "SCTID:715770009" MONDO:0020349 "Orphanet:98918" MONDO:0020349 "NCIT:C116929" MONDO:0020349 "UMLS:CN207196" -MONDO:0020349 "ICD10:G61.0" HP:0004325 "SNOMEDCT_US:248342006" HP:0004325 "SNOMEDCT_US:262285001" HP:0004325 "UMLS:C1844806" @@ -19534,7 +19078,7 @@ HP:0001250 "MSH:D004827" HP:0001250 "UMLS:C0036572" HP:0001250 "SNOMEDCT_US:313307000" MONDO:0017258 "Orphanet:280921" -MONDO:0017258 "ICD10:H44.1" +MONDO:0017258 "ICD10CM:H44.1" MONDO:0017258 "SCTID:766933000" MONDO:0008443 "UMLS:C1866850" MONDO:0008443 "GARD:0004918" @@ -19558,13 +19102,13 @@ MONDO:0100135 "ICD9:345.10" MONDO:0100135 "DOID:0060171" MONDO:0010790 "MedDRA:10069825" MONDO:0010790 "Orphanet:551" +MONDO:0010790 "ICD10CM:E88.42" MONDO:0010790 "UMLS:C0162672" MONDO:0010790 "ICD9:277.87" MONDO:0010790 "GARD:0007144" -MONDO:0010790 "ICD10:E88.42" +MONDO:0010790 "ICD10CM:G71.3" MONDO:0010790 "DOID:310" MONDO:0010790 "OMIM:545000" -MONDO:0010790 "ICD10:G71.3" MONDO:0010790 "SCTID:68448003" MONDO:0010790 "MESH:D017243" MONDO:0010790 "NCIT:C84889" @@ -19582,11 +19126,11 @@ MONDO:0002968 "SCTID:234110002" MONDO:0002968 "ICD9:457.8" MONDO:0002968 "UMLS:C0024248" MONDO:0002968 "NCIT:C78442" -MONDO:0019364 "ICD10:A79.8" +MONDO:0019364 "ICD10CM:A79.8" MONDO:0019364 "Orphanet:83316" MONDO:0019364 "SCTID:764104003" MONDO:0016550 "Orphanet:238646" -MONDO:0016550 "ICD10:Q62.2" +MONDO:0016550 "ICD10CM:Q62.2" MONDO:0005288 "SCTID:254588001" MONDO:0005288 "MESH:D007417" MONDO:0005288 "EFO:0003855" @@ -19595,13 +19139,13 @@ MONDO:0005288 "HP:0005266" MONDO:0008514 "OMIM:186100" MONDO:0008514 "GARD:0005088" MONDO:0008514 "Orphanet:93404" -MONDO:0008514 "ICD10:Q70.1" MONDO:0008514 "SCTID:715725001" MONDO:0008514 "UMLS:C1861366" MONDO:0008514 "MESH:C538154" +MONDO:0008514 "ICD10CM:Q70.1" MONDO:0000331 "DOID:0050484" +MONDO:0006234 "ICD10CM:D07.5" MONDO:0006234 "SCTID:92691004" -MONDO:0006234 "ICD10:D07.5" MONDO:0006234 "EFO:1000283" MONDO:0006234 "ICD9:233.4" MONDO:0006234 "NCIT:C3642" @@ -19616,17 +19160,17 @@ MONDO:0010518 "MESH:D014923" MONDO:0010518 "Orphanet:906" MONDO:0010518 "OMIM:614493" MONDO:0010518 "OMIM:301000" +MONDO:0010518 "ICD10CM:D82.0" MONDO:0010518 "ICD9:279.12" MONDO:0010518 "NCIT:C3448" MONDO:0010518 "GARD:0007895" -MONDO:0010518 "ICD10:D82.0" MONDO:0010518 "SCTID:36070007" MONDO:0010518 "MedDRA:10047992" MONDO:0001956 "MESH:D019559" MONDO:0001956 "DOID:14400" MONDO:0001956 "UMLS:C0343084" MONDO:0001956 "Orphanet:188" -MONDO:0001956 "ICD10:I78.8" +MONDO:0001956 "ICD10CM:I78.8" MONDO:0001956 "NCIT:C62578" MONDO:0001956 "GARD:0001084" MONDO:0001956 "ICD9:448.9" @@ -19637,13 +19181,14 @@ MONDO:0025494 "UMLS:C0376538" MONDO:0002099 "SCTID:76255006" MONDO:0002099 "DOID:1759" MONDO:0002099 "ICD9:115.0" -MONDO:0002099 "ICD10:B39.4" MONDO:0002099 "ICD9:115.00" MONDO:0000787 "DOID:0060512" +MONDO:0024297 "MESH:D009750" +MONDO:0024297 "ICD10CM:E00-E90" +MONDO:0024297 "UMLS:C0028715" MONDO:0017991 "MESH:D013625" MONDO:0017991 "OMIM:207600" MONDO:0017991 "DOID:2508" -MONDO:0017991 "ICD10:M31.4" MONDO:0017991 "NCIT:C35062" MONDO:0017991 "EFO:1001857" MONDO:0017991 "GARD:0007730" @@ -19653,30 +19198,25 @@ MONDO:0017991 "UMLS:C0039263" MONDO:0017991 "NCIT:C34391" MONDO:0017991 "Orphanet:3287" MONDO:0017991 "SCTID:239937004" -MONDO:0024297 "MESH:D009750" -MONDO:0024297 "ICD10:E00.E90" -MONDO:0024297 "UMLS:C0028715" MONDO:0001733 "DOID:13514" MONDO:0001733 "ICD9:362.36" MONDO:0022985 "GARD:0010750" -MONDO:0005475 "ICD10:G43.1" MONDO:0005475 "ICD9:346.00" MONDO:0005475 "UMLS:C0154723" MONDO:0005475 "OMIM:609179" MONDO:0005475 "OMIM:609670" MONDO:0005475 "SCTID:4473006" MONDO:0005475 "HP:0002077" -MONDO:0005475 "MESH:D020325" MONDO:0005475 "ICD9:346.0" +MONDO:0005475 "MESH:D020325" MONDO:0005475 "NCIT:C117005" MONDO:0005475 "DOID:10024" MONDO:0005475 "EFO:0005295" -MONDO:0005475 "ICD10:G43.109" MONDO:0008701 "Orphanet:93299" MONDO:0008701 "Orphanet:932" -MONDO:0008701 "ICD10:Q77.0" MONDO:0008701 "SCTID:42725006" MONDO:0008701 "GARD:0000459" +MONDO:0008701 "ICD10CM:Q77.0" MONDO:0008701 "OMIM:200600" MONDO:0008701 "DOID:0080054" MONDO:0008701 "MESH:C536015" @@ -19689,36 +19229,34 @@ MONDO:0007504 "OMIM:128980" MONDO:0007504 "Orphanet:2405" MONDO:0007504 "GARD:0002195" MONDO:0007504 "SCTID:722476007" -MONDO:0007504 "ICD10:H90.0" +MONDO:0007504 "ICD10CM:H90.0" MONDO:0012209 "UMLS:C1836673" -MONDO:0012209 "ICD10:Q87.0" MONDO:0012209 "OMIM:609166" MONDO:0012209 "SCTID:717944002" MONDO:0012209 "Orphanet:50815" +MONDO:0012209 "ICD10CM:Q87.0" MONDO:0012209 "MESH:C563780" -MONDO:0019739 "ICD10:D58.8" MONDO:0019739 "OMIM:235400" MONDO:0019739 "Orphanet:93581" MONDO:0019739 "UMLS:CN206652" +MONDO:0019739 "ICD10CM:D58.8" MONDO:0009246 "OMIM:229310" MONDO:0009246 "UMLS:C1856688" MONDO:0009246 "MESH:C538061" NCBITaxon:241806 "GC_ID:1" NCBITaxon:241806 "PMID:21652310" MONDO:0020061 "Orphanet:98158" -MONDO:0020061 "ICD10:Q98.6" +MONDO:0020061 "ICD10CM:Q98.6" MONDO:0008829 "ICD9:457.8" MONDO:0008829 "Orphanet:1160" MONDO:0008829 "GARD:0001359" -MONDO:0008829 "ICD10:I89.8" MONDO:0008829 "OMIM:208300" +MONDO:0008829 "ICD10CM:I89.8" MONDO:0008829 "UMLS:C0008732" MONDO:0008829 "MESH:D002915" MONDO:0008829 "SCTID:52985009" MONDO:0008829 "MedDRA:10003446" MONDO:0008829 "NCIT:C34482" -MONDO:0024305 "ICD10:E22.1" -MONDO:0024305 "DOID:12700" MONDO:0002146 "OMIM:241100" MONDO:0002146 "ICD9:253.4" MONDO:0002146 "SCTID:48130008" @@ -19727,14 +19265,14 @@ MONDO:0002146 "DOID:1924" MONDO:0002146 "NCIT:C9227" MONDO:0002146 "MESH:D007006" MONDO:0002146 "UMLS:C0020619" +MONDO:0024305 "DOID:12700" MONDO:0008049 "UMLS:C1834556" MONDO:0008049 "DOID:0070196" MONDO:0008049 "OMIM:160300" MONDO:0008049 "UMLS:C4011725" -MONDO:0019187 "ICD10:Q13.81" MONDO:0019187 "MESH:C535679" -MONDO:0019187 "ICD10:Q13.8" MONDO:0019187 "NCIT:C131001" +MONDO:0019187 "ICD10CM:Q13.8" MONDO:0019187 "ICD9:743.44" MONDO:0019187 "UMLS:CN776842" MONDO:0019187 "OMIM:601499" @@ -19748,8 +19286,8 @@ MONDO:0019187 "UMLS:C3495488" MONDO:0019187 "DOID:14686" MONDO:0019187 "SCTID:47507006" MONDO:0030602 "UMLS:C0519030" -MONDO:0030602 "ICD10:J15.0" MONDO:0030602 "ICD9:482.0" +MONDO:0030602 "ICD10CM:J15.0" MONDO:0030602 "DOID:13272" MONDO:0030602 "SCTID:64479007" HP:0001972 "UMLS:C0002886" @@ -19760,16 +19298,15 @@ MONDO:0016678 "Orphanet:251535" MONDO:0016678 "UMLS:CN201921" MONDO:0017624 "UMLS:CN203511" MONDO:0017624 "Orphanet:306516" +MONDO:0017624 "ICD10CM:E83.4" MONDO:0017624 "GARD:0009891" -MONDO:0017624 "ICD10:E83.4" MONDO:0004745 "NCIT:C85022" +MONDO:0004745 "ICD10CM:N48.3" MONDO:0004745 "UMLS:C0033117" MONDO:0004745 "DOID:9286" MONDO:0004745 "ICD9:607.3" MONDO:0004745 "MESH:D011317" MONDO:0004745 "Orphanet:140949" -MONDO:0004745 "ICD10:N48.3" -MONDO:0004745 "ICD10:N48.30" MONDO:0004745 "SCTID:6273006" HP:0002240 "MSH:D006529" HP:0002240 "SNOMEDCT_US:80515008" @@ -19805,12 +19342,11 @@ MONDO:0006924 "MESH:D001476" MONDO:0006924 "UMLS:C0004773" MONDO:0006924 "EFO:1001125" MONDO:0013813 "Orphanet:306734" -MONDO:0013813 "ICD10:G24.1" +MONDO:0013813 "ICD10CM:G24.1" MONDO:0013813 "DOID:0090046" MONDO:0013813 "UMLS:C3281236" MONDO:0013813 "OMIM:614588" MONDO:0015842 "SCTID:31401003" -MONDO:0015842 "ICD10:Q51.3" MONDO:0015842 "Orphanet:180134" MONDO:0015842 "MedDRA:10004550" MONDO:0007498 "UMLS:C0155411" @@ -19824,16 +19360,16 @@ MONDO:0010382 "SCTID:448045004" MONDO:0010382 "DOID:0050879" MONDO:0010382 "Orphanet:93256" MONDO:0010382 "NCIT:C126566" -MONDO:0010382 "ICD10:G11.2" MONDO:0010382 "UMLS:C1839780" +MONDO:0010382 "ICD10CM:G11.2" MONDO:0021323 "UMLS:C0346948" MONDO:0021323 "SCTID:712750007" MONDO:0021323 "NCIT:C4580" MONDO:0011971 "OMIM:608106" +MONDO:0011971 "ICD10CM:D80.5" MONDO:0011971 "Orphanet:101092" MONDO:0011971 "DOID:0060759" MONDO:0011971 "Orphanet:183666" -MONDO:0011971 "ICD10:D80.5" MONDO:0011971 "GARD:0010581" MONDO:0044343 "SCTID:69195002" MONDO:0044343 "UMLS:C0410606" @@ -19850,16 +19386,16 @@ MONDO:0007506 "UMLS:C1851888" MONDO:0015725 "Orphanet:1703" MONDO:0015725 "MESH:C535489" MONDO:0015725 "GARD:0001327" -MONDO:0015725 "ICD10:Q92.1" MONDO:0015725 "SCTID:764466009" +MONDO:0015725 "ICD10CM:Q92.1" MONDO:0015725 "NCIT:C116319" MONDO:0015725 "UMLS:C2930917" MONDO:0006790 "MESH:D006936" MONDO:0006790 "DOID:12733" MONDO:0006790 "MedDRA:10020596" MONDO:0006790 "GARD:0006692" -MONDO:0006790 "ICD10:K03.4" MONDO:0006790 "SCTID:78537008" +MONDO:0006790 "ICD10CM:K03.4" MONDO:0006790 "EFO:1000970" MONDO:0006790 "UMLS:C0020441" MONDO:0006790 "ICD9:521.5" @@ -19869,16 +19405,14 @@ MONDO:0009519 "ICDO:9754/3" MONDO:0009519 "OMIM:246400" MONDO:0009519 "UMLS:C0023381" MONDO:0009519 "Orphanet:99870" -MONDO:0009519 "ICD10:C96.0" MONDO:0008304 "EFO:0009077" MONDO:0008304 "UMLS:C1864389" MONDO:0008304 "OMIM:176430" +MONDO:0014545 "ICD10CM:G40.3" MONDO:0014545 "Orphanet:424027" MONDO:0014545 "OMIM:616230" MONDO:0014545 "DOID:0111451" MONDO:0014545 "UMLS:C4015619" -MONDO:0014545 "ICD10:G40.3" -MONDO:0005138 "ICD10:C34.90" MONDO:0005138 "DOID:3905" MONDO:0005138 "EFO:0001071" MONDO:0005138 "OMIM:211980" @@ -19888,10 +19422,10 @@ MONDO:0005138 "UMLS:C0684249" MONDO:0007107 "MESH:C566287" MONDO:0007107 "UMLS:C1862935" MONDO:0007107 "OMIM:105565" -MONDO:0015079 "ICD10:D44.8" MONDO:0015079 "UMLS:CN197373" MONDO:0015079 "UMLS:C0027662" MONDO:0015079 "Orphanet:100094" +MONDO:0015079 "ICD10CM:D44.8" CL:0000408 "CALOHA:TS-0949" CL:0000408 "BTO:0001277" MONDO:0044907 "NCIT:C4104" @@ -19911,7 +19445,6 @@ MONDO:0014732 "OMIM:616683" MONDO:0014732 "UMLS:C4225247" MONDO:0001148 "SCTID:42861008" MONDO:0001148 "DOID:10880" -MONDO:0001148 "ICD10:I80.21" MONDO:0001148 "ICD9:451.81" MONDO:0001148 "UMLS:C0347887" HP:0001751 "UMLS:C1843865" @@ -19924,6 +19457,7 @@ MONDO:0018709 "OMIM:300958" MONDO:0030423 "OMIM:619493" MONDO:0021146 "MESH:D020773" MONDO:0021146 "SCTID:230461009" +MONDO:0021146 "ICD10CM:G40-G47" MONDO:0004524 "DOID:8292" MONDO:0004524 "ICDO:8330/1" MONDO:0004524 "UMLS:C1266046" @@ -19931,26 +19465,26 @@ MONDO:0004524 "NCIT:C27729" NCBITaxon:2172821 "GC_ID:1" MONDO:0019857 "Orphanet:95715" MONDO:0019857 "SCTID:717333002" -MONDO:0019857 "ICD10:P72.2" MONDO:0019857 "UMLS:C4273914" +MONDO:0019857 "ICD10CM:P72.2" MONDO:0026722 "OMIM:301022" MONDO:0005661 "NCIT:C84581" MONDO:0005661 "Orphanet:108" MONDO:0005661 "UMLS:C0004576" MONDO:0005661 "MESH:D001404" -MONDO:0005661 "ICD10:B60.0" MONDO:0005661 "EFO:0007162" MONDO:0005661 "ICD9:088.82" MONDO:0005661 "MedDRA:10003965" MONDO:0005661 "GARD:0005878" MONDO:0005661 "SCTID:21061004" MONDO:0005661 "DOID:9643" +MONDO:0005661 "ICD10CM:B60.0" MONDO:0013330 "UMLS:C3150887" MONDO:0013330 "OMIM:613623" MONDO:0012774 "SCTID:699254009" MONDO:0012774 "DOID:0060394" MONDO:0012774 "MESH:C567439" -MONDO:0012774 "ICD10:Q93.5" +MONDO:0012774 "ICD10CM:Q93.5" MONDO:0012774 "GARD:0010296" MONDO:0012774 "OMIM:612001" MONDO:0012774 "Orphanet:199318" @@ -19967,17 +19501,16 @@ MONDO:0019037 "Orphanet:683" MONDO:0019037 "DOID:678" MONDO:0019037 "NCIT:C85028" MONDO:0019037 "OMIM:609454" -MONDO:0019037 "ICD10:G23.1" MONDO:0019037 "SCTID:192976002" -MONDO:0014803 "ICD10:E88.8" MONDO:0014803 "OMIM:616859" MONDO:0014803 "Orphanet:401866" +MONDO:0014803 "ICD10CM:E88.8" MONDO:0014803 "UMLS:C4225178" MONDO:0007840 "UMLS:C1840073" MONDO:0007840 "MESH:C564125" MONDO:0007840 "OMIM:147820" MONDO:0015445 "Orphanet:1455" -MONDO:0015445 "ICD10:Q25.1" +MONDO:0015445 "ICD10CM:Q25.1" HP:0000859 "UMLS:C0020428" HP:0000859 "MSH:D006929" HP:0000859 "SNOMEDCT_US:88213004" @@ -19985,7 +19518,7 @@ MONDO:0009025 "UMLS:C3887949" MONDO:0009025 "OMIM:218030" MONDO:0009025 "SCTID:703256004" MONDO:0009025 "GARD:0000433" -MONDO:0009025 "ICD10:E26.1" +MONDO:0009025 "ICD10CM:E26.1" MONDO:0009025 "Orphanet:320" MONDO:0009025 "UMLS:C2936861" MONDO:0009025 "MESH:C537422" @@ -19993,9 +19526,9 @@ MONDO:0009025 "UMLS:CN203981" MONDO:0009025 "DOID:0090121" MONDO:0009025 "NCIT:C131083" MONDO:0016528 "SCTID:716106000" +MONDO:0016528 "ICD10CM:Q87.8" MONDO:0016528 "Orphanet:2369" MONDO:0016528 "UMLS:CN201594" -MONDO:0016528 "ICD10:Q87.8" MONDO:0016528 "GARD:0003251" MONDO:0016528 "UMLS:C4274839" CL:0000837 "BTO:0000725" @@ -20006,28 +19539,28 @@ MONDO:0001369 "ICD9:476.0" MONDO:0001369 "NCIT:C26975" MONDO:0001369 "UMLS:C0155836" MONDO:0001369 "SCTID:29951006" -MONDO:0001369 "ICD10:J37.0" +MONDO:0001369 "ICD10CM:J37.0" MONDO:0019904 "SCTID:765486004" -MONDO:0019904 "ICD10:Q93.2" MONDO:0019904 "UMLS:C4050314" MONDO:0019904 "NCIT:C121982" MONDO:0019904 "GARD:0010839" MONDO:0019904 "Orphanet:96172" -MONDO:0010161 "DOID:0050726" -MONDO:0010161 "Orphanet:882" -MONDO:0010161 "GARD:0002658" +MONDO:0019904 "ICD10CM:Q93.2" +MONDO:0010161 "SCTID:410056006" MONDO:0010161 "NCIT:C98641" +MONDO:0010161 "DOID:0050726" MONDO:0010161 "MedDRA:10069462" -MONDO:0010161 "ICD10:E70.2" -MONDO:0010161 "SCTID:410056006" -MONDO:0010161 "OMIM:276700" MONDO:0010161 "UMLS:C0268490" +MONDO:0010161 "Orphanet:882" +MONDO:0010161 "OMIM:276700" +MONDO:0010161 "ICD10CM:E70.2" +MONDO:0010161 "GARD:0002658" MONDO:0023567 "GARD:0003136" MONDO:0023567 "MESH:C537506" MONDO:0023567 "UMLS:C2931511" MONDO:0014020 "UMLS:C3539506" -MONDO:0014020 "ICD10:G11.4" MONDO:0014020 "UMLS:C4510214" +MONDO:0014020 "ICD10CM:G11.4" MONDO:0014020 "Orphanet:320375" MONDO:0014020 "SCTID:723825006" MONDO:0014020 "DOID:0110807" @@ -20038,16 +19571,14 @@ MONDO:0010992 "OMIM:601088" MONDO:0010992 "MESH:C563390" MONDO:0010992 "Orphanet:477668" MONDO:0010992 "EFO:0009020" +MONDO:0011634 "ICD10CM:G71.8" MONDO:0011634 "MedDRA:10069417" MONDO:0011634 "ICD9:359.29" MONDO:0011634 "SCTID:709281006" -MONDO:0011634 "ICD10:G71.8" -MONDO:0001629 "ICD10:M12.0" MONDO:0001629 "UMLS:C0152084" MONDO:0001629 "ICD9:714.4" MONDO:0001629 "SCTID:84801008" MONDO:0001629 "DOID:13080" -MONDO:0001629 "ICD10:M12.00" NCBITaxon:36330 "PMID:20380562" NCBITaxon:36330 "GC_ID:1" MONDO:0021575 "OMIM:617743" @@ -20057,21 +19588,21 @@ MONDO:0017132 "Orphanet:271861" MONDO:0017132 "UMLS:CN227096" MONDO:0016715 "SCTID:715901002" MONDO:0016715 "ONCOTREE:ETANTR" -MONDO:0016715 "ICD10:C71.9" MONDO:0016715 "NCIT:C4915" MONDO:0016715 "DOID:0080903" MONDO:0016715 "UMLS:C0700367" MONDO:0016715 "Orphanet:251880" MONDO:0016715 "DOID:4794" MONDO:0016715 "MedDRA:10014966" +MONDO:0016715 "ICD10CM:C71.9" MONDO:0016715 "GARD:0006352" MONDO:0013815 "OMIM:614592" MONDO:0013815 "UMLS:C3281247" MONDO:0013815 "Orphanet:313855" MONDO:0013815 "GARD:0010965" +MONDO:0020378 "ICD10CM:Q12.0" MONDO:0020378 "Orphanet:98993" MONDO:0020378 "OMIM:613763" -MONDO:0020378 "ICD10:Q12.0" MONDO:0011563 "MESH:C565323" MONDO:0011563 "GARD:0002474" MONDO:0011563 "OMIM:605544" @@ -20089,9 +19620,9 @@ MONDO:0003756 "NCIT:C5242" MONDO:0003756 "UMLS:C1335168" MONDO:0003756 "DOID:6067" MONDO:0024171 "GARD:0004629" -MONDO:0013261 "ICD10:I42.0" MONDO:0013261 "DOID:0110456" MONDO:0013261 "Orphanet:54260" +MONDO:0013261 "ICD10CM:I42.0" MONDO:0013261 "OMIM:613424" NCBITaxon:1463974 "GC_ID:1" MONDO:0010875 "MESH:C563947" @@ -20104,7 +19635,6 @@ MONDO:0100387 "NCIT:C36411" MONDO:0011821 "GARD:0008744" MONDO:0011821 "UMLS:C1846357" MONDO:0011821 "DOID:0070117" -MONDO:0011821 "ICD10:Q61.9" MONDO:0011821 "MESH:C536132" MONDO:0011821 "Orphanet:564" MONDO:0011821 "OMIM:607361" @@ -20114,24 +19644,24 @@ MONDO:0005327 "MESH:D006620" MONDO:0005327 "EFO:0003964" MONDO:0005327 "SCTID:263225007" MONDO:0005327 "NCIT:C26794" -MONDO:0017490 "ICD10:Q72.5" MONDO:0017490 "Orphanet:295077" MONDO:0017490 "UMLS:CN203228" +MONDO:0017490 "ICD10CM:Q72.5" +MONDO:0019449 "ICD10CM:Q04.3" MONDO:0019449 "SCTID:718719001" -MONDO:0019449 "ICD10:Q04.3" MONDO:0019449 "UMLS:CN227635" MONDO:0019449 "Orphanet:86821" MONDO:0018573 "UMLS:CN237586" MONDO:0018573 "Orphanet:436144" -MONDO:0018573 "ICD10:Q87.1" +MONDO:0018573 "ICD10CM:Q87.1" MONDO:0005210 "ONCOTREE:USARC" MONDO:0005210 "NCIT:C6339" MONDO:0005210 "UMLS:C0338113" +MONDO:0005210 "ICD10CM:C54.2" MONDO:0005210 "Orphanet:213620" MONDO:0005210 "DOID:5165" MONDO:0005210 "GARD:0009383" MONDO:0005210 "MedDRA:10039497" -MONDO:0005210 "ICD10:C54.2" MONDO:0005210 "EFO:0002914" MONDO:0005210 "SCTID:254877001" MONDO:0002138 "ICD9:373.32" @@ -20144,18 +19674,18 @@ MONDO:0024336 "DOID:2098" MONDO:0024336 "NCIT:C6380" MONDO:0024336 "Orphanet:494454" MONDO:0010907 "DOID:0111703" +MONDO:0010907 "ICD10CM:E70.8" MONDO:0010907 "Orphanet:2224" MONDO:0010907 "MESH:C538393" MONDO:0010907 "OMIM:600627" MONDO:0010907 "GARD:0002871" MONDO:0010907 "UMLS:C2931837" -MONDO:0010907 "ICD10:E70.8" MONDO:0010907 "UMLS:C1833562" MONDO:0010907 "SCTID:721838005" MONDO:0020087 "Orphanet:98305" MONDO:0020087 "UMLS:C4511302" -MONDO:0020087 "ICD10:E88.1" MONDO:0020087 "SCTID:724841000" +MONDO:0020087 "ICD10CM:E88.1" MONDO:0005514 "OMIM:609549" MONDO:0005514 "OMIM:615972" MONDO:0005514 "Orphanet:35612" @@ -20164,19 +19694,17 @@ MONDO:0005514 "DOID:0080634" MONDO:0005514 "OMIM:600165" MONDO:0005514 "SCTID:716775009" MONDO:0008695 "Orphanet:2388" -MONDO:0008695 "ICD10:E78.6" +MONDO:0008695 "ICD10CM:E78.6" MONDO:0008695 "SCTID:66881004" MONDO:0008695 "OMIM:200150" MONDO:0008695 "ICD9:333.0" MONDO:0008695 "DOID:0050766" MONDO:0008695 "GARD:0003956" MONDO:0016003 "UMLS:C0085399" -MONDO:0016003 "ICD10:A77.40" -MONDO:0016003 "ICD10:A48.8" -MONDO:0016003 "ICD10:A77.4" MONDO:0016003 "ICD9:082.40" MONDO:0016003 "GARD:0002092" MONDO:0016003 "MESH:D016873" +MONDO:0016003 "ICD10CM:A48.8" MONDO:0016003 "Orphanet:1902" MONDO:0016003 "ICD9:082.4" MONDO:0016003 "DOID:10242" @@ -20190,26 +19718,25 @@ MONDO:0018760 "UMLS:CN242159" MONDO:0014324 "Orphanet:2309" MONDO:0014324 "UMLS:C3714948" MONDO:0014324 "OMIM:615726" -MONDO:0006651 "ICD10:H20.2" -MONDO:0006651 "ICD10:H20.1" +MONDO:0006651 "DOID:1407" +MONDO:0006651 "ICD10CM:H20.0" MONDO:0006651 "UMLS:C0042165" -MONDO:0006651 "NCIT:C35109" -MONDO:0006651 "HP:0012122" MONDO:0006651 "CSP:1114-9593" -MONDO:0006651 "MESH:D014606" -MONDO:0006651 "ICD10:H20.8" -MONDO:0006651 "MedDRA:10002709" -MONDO:0006651 "GARD:0010941" -MONDO:0006651 "ICD10:H20.0" -MONDO:0006651 "DOID:1407" -MONDO:0006651 "UMLS:C0022073" MONDO:0006651 "Orphanet:280886" MONDO:0006651 "SCTID:410692006" -MONDO:0006651 "ICD10:H20.9" +MONDO:0006651 "ICD10CM:H20.2" +MONDO:0006651 "ICD10CM:H20.8" +MONDO:0006651 "HP:0012122" +MONDO:0006651 "GARD:0010941" +MONDO:0006651 "NCIT:C35109" MONDO:0006651 "SCTID:77971008" +MONDO:0006651 "MESH:D014606" +MONDO:0006651 "ICD10CM:H20.1" MONDO:0006651 "EFO:1000811" +MONDO:0006651 "ICD10CM:H20.9" +MONDO:0006651 "MedDRA:10002709" +MONDO:0006651 "UMLS:C0022073" MONDO:0018072 "NCIT:C98880" -MONDO:0018072 "ICD10:Q20.0" MONDO:0018072 "OMIM:217095" MONDO:0018072 "GARD:0007375" MONDO:0018072 "Orphanet:3384" @@ -20218,18 +19745,18 @@ MONDO:0003579 "DOID:5678" MONDO:0003579 "SCTID:193428001" MONDO:0003579 "ICD9:362.85" NCBITaxon:8287 "GC_ID:1" -MONDO:0016307 "ICD10:E75.2" +MONDO:0016307 "ICD10CM:E75.2" MONDO:0016307 "Orphanet:216975" MONDO:0016307 "UMLS:CN201113" MONDO:0015591 "Orphanet:163903" -MONDO:0015591 "ICD10:G13.1" -MONDO:0008703 "ICD10:Q78.8" +MONDO:0015591 "ICD10CM:G13.1" +MONDO:0008703 "ICD10CM:Q78.8" +MONDO:0008703 "NCIT:C3816" MONDO:0008703 "DOID:0080052" MONDO:0008703 "UMLS:C0265260" -MONDO:0008703 "NCIT:C3816" -MONDO:0008703 "Orphanet:2098" MONDO:0008703 "OMIM:609441" MONDO:0008703 "OMIM:200700" +MONDO:0008703 "Orphanet:2098" MONDO:0008703 "GARD:0001300" MONDO:0015244 "Orphanet:1172" MONDO:0015244 "DOID:0050950" @@ -20238,9 +19765,9 @@ MONDO:0015244 "OMIMPS:213200" MONDO:0006955 "MESH:D012214" MONDO:0006955 "EFO:1001161" MONDO:0006955 "MedDRA:10062110" -MONDO:0006955 "ICD10:I05.I09" MONDO:0006955 "NCIT:C34882" MONDO:0006955 "ICD9:398.99" +MONDO:0006955 "ICD10CM:I05-I09" MONDO:0006955 "DOID:0050827" MONDO:0006955 "SCTID:23685000" MONDO:0006955 "ICD9:398.90" @@ -20270,23 +19797,22 @@ MONDO:0001408 "SCTID:129611009" MONDO:0001408 "UMLS:C0238309" MONDO:0001408 "DOID:1195" MONDO:0019131 "Orphanet:73230" -MONDO:0019131 "ICD10:Q79.8" MONDO:0019131 "UMLS:CN227577" +MONDO:0019131 "ICD10CM:Q79.8" MONDO:0001009 "NCIT:C3378" MONDO:0001009 "SCTID:266578003" +MONDO:0001009 "ICD10CM:N60.0" MONDO:0001009 "DOID:10349" -MONDO:0001009 "ICD10:N60.09" -MONDO:0001009 "ICD10:N60.0" MONDO:0001009 "ICD9:610.0" MONDO:0002871 "DOID:4084" MONDO:0002871 "NCIT:C39934" MONDO:0002871 "UMLS:C1515301" MONDO:0007383 "Orphanet:3194" +MONDO:0007383 "ICD10CM:H18.5" MONDO:0007383 "SCTID:723584003" MONDO:0007383 "GARD:0001531" MONDO:0007383 "MESH:C537488" MONDO:0007383 "OMIM:122440" -MONDO:0007383 "ICD10:H18.5" MONDO:0004997 "ICDO:9230/0" MONDO:0004997 "MESH:D002804" MONDO:0004997 "GARD:0006047" @@ -20310,7 +19836,6 @@ MONDO:0016830 "NCIT:C84685" MONDO:0016830 "OMIM:616516" MONDO:0016830 "GARD:0006329" MONDO:0016830 "OMIM:310300" -MONDO:0016830 "ICD10:G71.0" MONDO:0016830 "Orphanet:261" MONDO:0016830 "MESH:D020389" MONDO:0016830 "UMLS:C0410189" @@ -20321,6 +19846,7 @@ MONDO:0016830 "SCTID:129620000" MONDO:0016830 "OMIM:300696" MONDO:0016830 "OMIM:614302" MONDO:0016830 "OMIM:612999" +MONDO:0016830 "ICD10CM:G71.0" MONDO:0016830 "SCTID:111508004" MONDO:0043330 "EFO:1001860" MONDO:0043330 "MESH:D057792" @@ -20332,10 +19858,10 @@ MONDO:0023286 "ICD9:503" MONDO:0023286 "UMLS:C0264439" MONDO:0023286 "SCTID:17385007" MONDO:0023286 "GARD:0008359" -MONDO:0019202 "ICD10:C49.9" MONDO:0019202 "ONCOTREE:MFS" MONDO:0019202 "ICDO:8811/3" MONDO:0019202 "NCIT:C6496" +MONDO:0019202 "ICD10CM:C49.9" MONDO:0019202 "DOID:0080534" MONDO:0019202 "SCTID:253042009" MONDO:0019202 "MedDRA:10066948" @@ -20343,6 +19869,7 @@ MONDO:0019202 "Orphanet:79105" MONDO:0000301 "DOID:0050268" MONDO:0000301 "SCTID:48216006" MONDO:0000301 "UMLS:C0027034" +MONDO:0008287 "ICD10CM:Q87.0" MONDO:0008287 "DOID:14761" MONDO:0008287 "Orphanet:380" MONDO:0008287 "NCIT:C35255" @@ -20350,34 +19877,32 @@ MONDO:0008287 "UMLS:C0265306" MONDO:0008287 "GARD:0006550" MONDO:0008287 "SCTID:32985001" MONDO:0008287 "MedDRA:10053878" -MONDO:0008287 "ICD10:Q87.0" MONDO:0008287 "OMIM:175700" MONDO:0008287 "MESH:C537300" -MONDO:0023041 "GARD:0002044" MONDO:0004043 "UMLS:C1336874" MONDO:0004043 "NCIT:C6174" MONDO:0004043 "DOID:6935" -MONDO:0018352 "Orphanet:398058" -MONDO:0018352 "DOID:5518" -MONDO:0018352 "UMLS:C0238348" -MONDO:0018352 "ICD10:C60.2" -MONDO:0018352 "NCIT:C7729" -MONDO:0018352 "SCTID:403468003" -MONDO:0018352 "ICD10:C60.1" -MONDO:0018352 "ICD10:C60.9" -MONDO:0018352 "ICD10:C60.0" -MONDO:0018352 "ICD10:C60.8" -MONDO:0018352 "ONCOTREE:PSCC" +MONDO:0023041 "GARD:0002044" MONDO:0011636 "UMLS:C1853666" MONDO:0011636 "MESH:C536130" MONDO:0011636 "OMIM:606129" MONDO:0011636 "GARD:0008283" +MONDO:0018352 "Orphanet:398058" +MONDO:0018352 "SCTID:403468003" +MONDO:0018352 "ICD10CM:C60.9" +MONDO:0018352 "ICD10CM:C60.8" +MONDO:0018352 "UMLS:C0238348" +MONDO:0018352 "DOID:5518" +MONDO:0018352 "ICD10CM:C60.2" +MONDO:0018352 "NCIT:C7729" +MONDO:0018352 "ONCOTREE:PSCC" +MONDO:0018352 "ICD10CM:C60.0" +MONDO:0018352 "ICD10CM:C60.1" MONDO:0006243 "EFO:1000293" MONDO:0006243 "NCIT:C66950" MONDO:0006243 "ICDO:8576/3" MONDO:0006243 "UMLS:C1266090" MONDO:0006243 "DOID:0060534" -MONDO:0008170 "ICD10:C56" MONDO:0008170 "Orphanet:213500" MONDO:0008170 "GARD:0007295" MONDO:0008170 "SCTID:363443007" @@ -20404,10 +19929,8 @@ MONDO:0007309 "GARD:0001245" MONDO:0007309 "OMIM:118220" MONDO:0007309 "Orphanet:101081" MONDO:0007309 "NCIT:C75468" -MONDO:0007309 "ICD10:G60.0" -MONDO:0004608 "ICD10:C10" +MONDO:0007309 "ICD10CM:G60.0" MONDO:0004608 "UMLS:C3165521" -MONDO:0004608 "ICD10:C10.8" MONDO:0004608 "UMLS:C0153389" MONDO:0004608 "UMLS:C2349952" MONDO:0004608 "ICD9:146.9" @@ -20415,15 +19938,13 @@ MONDO:0004608 "UMLS:C0153390" MONDO:0004608 "UMLS:C0153382" MONDO:0004608 "ICD9:146.6" MONDO:0004608 "NCIT:C7398" -MONDO:0004608 "ICD10:C10.3" MONDO:0004608 "EFO:1001931" -MONDO:0004608 "ICD10:C10.9" MONDO:0004608 "DOID:8557" MONDO:0004608 "MESH:D009959" MONDO:0004608 "GARD:0009358" MONDO:0004608 "ICD9:146.5" MONDO:0004608 "ICD9:146" -MONDO:0004608 "ICD10:C10.2" +MONDO:0004608 "ICD10CM:C10" MONDO:0004608 "ICD9:146.7" MONDO:0006172 "NCIT:C4551" MONDO:0006172 "DOID:0050906" @@ -20446,9 +19967,8 @@ MONDO:0003054 "SCTID:724171006" MONDO:0003054 "MESH:D008579" MONDO:0003054 "DOID:4587" MONDO:0016394 "Orphanet:225147" -MONDO:0016394 "ICD10:G23.2" +MONDO:0016394 "ICD10CM:G23.2" MONDO:0001742 "ICD9:365.21" -MONDO:0001742 "ICD10:H40.23" MONDO:0001742 "SCTID:65460003" MONDO:0001742 "UMLS:C0154945" MONDO:0001742 "DOID:13549" @@ -20456,12 +19976,12 @@ MONDO:0015140 "OMIM:606187" MONDO:0015140 "Orphanet:1020" MONDO:0015140 "OMIM:605055" MONDO:0015140 "OMIM:611152" -MONDO:0015140 "ICD10:G30.0" MONDO:0015140 "OMIM:602096" MONDO:0015140 "OMIM:609790" MONDO:0015140 "OMIM:104300" MONDO:0015140 "UMLS:CN043596" MONDO:0015140 "OMIM:104310" +MONDO:0015140 "ICD10CM:G30.0" MONDO:0015140 "OMIM:609636" MONDO:0015140 "OMIM:611073" MONDO:0015140 "OMIM:607822" @@ -20475,9 +19995,9 @@ MONDO:0007645 "UMLS:C1850930" MONDO:0007645 "OMIM:137130" MONDO:0007645 "MESH:C564990" MONDO:0010877 "SCTID:76043009" +MONDO:0010877 "ICD10CM:G60.0" MONDO:0010877 "UMLS:CN074211" MONDO:0010877 "Orphanet:64751" -MONDO:0010877 "ICD10:G60.0" MONDO:0010877 "DOID:0080067" MONDO:0010877 "OMIM:600361" MONDO:0010877 "GARD:0009208" @@ -20487,12 +20007,12 @@ MONDO:0005484 "DOID:0050860" MONDO:0005484 "SCTID:399432003" MONDO:0005484 "NCIT:C5673" MONDO:0005484 "UMLS:C1302401" -MONDO:0011823 "ICD10:Q87.8" MONDO:0011823 "MESH:C537704" MONDO:0011823 "OMIM:607371" MONDO:0011823 "UMLS:C1846331" MONDO:0011823 "Orphanet:79107" MONDO:0011823 "GARD:0009818" +MONDO:0011823 "ICD10CM:Q87.8" MONDO:0006430 "UMLS:C2018777" MONDO:0006430 "NCIT:C7306" MONDO:0006430 "EFO:1000549" @@ -20507,8 +20027,8 @@ HP:0000133 "SNOMEDCT_US:83579008" HP:0000133 "SNOMEDCT_US:205681004" MONDO:0009947 "UMLS:C0398746" MONDO:0009947 "Orphanet:289846" +MONDO:0009947 "ICD10CM:D55.1" MONDO:0009947 "SCTID:39112005" -MONDO:0009947 "ICD10:D55.1" MONDO:0009947 "ICD9:270.8" MONDO:0009947 "Orphanet:32" MONDO:0009947 "OMIM:266130" @@ -20525,16 +20045,14 @@ MONDO:0001096 "NCIT:C6627" MONDO:0004390 "ICD9:360.3" MONDO:0004390 "ICD9:360.30" MONDO:0004390 "DOID:790" -MONDO:0004390 "ICD10:H44.40" MONDO:0004390 "SCTID:19721008" MONDO:0004390 "UMLS:C0028841" MONDO:0004390 "MESH:D015814" -MONDO:0004390 "ICD10:H44.4" +MONDO:0000983 "ICD10CM:F65.2" MONDO:0000983 "MESH:D005084" MONDO:0000983 "ICD9:302.4" MONDO:0000983 "DOID:10236" MONDO:0000983 "SCTID:58349009" -MONDO:0000983 "ICD10:F65.2" MONDO:0000983 "NCIT:C94352" MONDO:0006886 "MESH:D018265" MONDO:0006886 "DOID:3968" @@ -20564,23 +20082,21 @@ MONDO:0017633 "Orphanet:306640" MONDO:0017633 "UMLS:CN227165" MONDO:0002474 "ICD9:271.8" MONDO:0002474 "OMIM:260000" -MONDO:0002474 "ICD10:E72.53" MONDO:0002474 "DOID:2977" MONDO:0002474 "OMIM:613616" MONDO:0002474 "UMLS:C0020501" MONDO:0002474 "Orphanet:416" MONDO:0002474 "MedDRA:10020703" +MONDO:0002474 "ICD10CM:E74.8" MONDO:0002474 "OMIMPS:259900" -MONDO:0002474 "ICD10:E74.8" MONDO:0002474 "MESH:D006960" MONDO:0002474 "NCIT:C123158" MONDO:0002474 "SCTID:17901006" MONDO:0002474 "OMIM:259900" MONDO:0017983 "Orphanet:3266" -MONDO:0017983 "ICD10:Q74.0" +MONDO:0017983 "ICD10CM:Q74.0" MONDO:0024501 "NCIT:C60709" MONDO:0020252 "Orphanet:98682" -MONDO:0010016 "ICD10:M85.2" MONDO:0010016 "UMLS:CN032489" MONDO:0010016 "Orphanet:3152" MONDO:0010016 "UMLS:C0265301" @@ -20591,7 +20107,7 @@ MONDO:0013586 "OMIM:614122" MONDO:0013239 "SCTID:763069002" MONDO:0013239 "OMIM:613364" MONDO:0013239 "UMLS:CN203988" -MONDO:0013239 "ICD10:G11.4" +MONDO:0013239 "ICD10CM:G11.4" MONDO:0013239 "Orphanet:320355" MONDO:0013239 "DOID:0110793" MONDO:0008860 "OMIM:210100" @@ -20601,12 +20117,12 @@ MONDO:0033015 "OMIM:617526" MONDO:0033015 "Orphanet:316" MONDO:0033015 "DOID:0080251" MONDO:0033015 "OMIM:617756" -MONDO:0017163 "ICD10:P55.1" +MONDO:0017163 "ICD10CM:P55.9" MONDO:0017163 "Orphanet:275938" +MONDO:0017163 "ICD10CM:P55.1" +MONDO:0017163 "ICD10CM:P55.8" MONDO:0017163 "UMLS:CN202585" -MONDO:0017163 "ICD10:P55.8" -MONDO:0017163 "ICD10:P55.9" -MONDO:0017163 "ICD10:P55.0" +MONDO:0017163 "ICD10CM:P55.0" MONDO:0015851 "Orphanet:180163" MONDO:0021777 "UMLS:C0035440" MONDO:0021777 "SCTID:312591002" @@ -20622,11 +20138,9 @@ MONDO:0009277 "ICD9:743.21" MONDO:0032801 "OMIM:618531" MONDO:0022890 "GARD:0001595" MONDO:0012626 "DOID:0070118" -MONDO:0012626 "ICD10:Q61.9" MONDO:0012626 "Orphanet:564" MONDO:0012626 "OMIM:611134" MONDO:0012626 "UMLS:C1970161" -MONDO:0010374 "ICD10:H35.5" MONDO:0010374 "DOID:0110417" MONDO:0010374 "OMIM:300605" MONDO:0010374 "GARD:0010390" @@ -20634,13 +20148,12 @@ MONDO:0010374 "UMLS:C1845104" MONDO:0010374 "MESH:C564475" CL:1000494 "FMA:86785" CL:1000494 "KUPO:0001022" +MONDO:0014190 "ICD10CM:E88.8" MONDO:0014190 "DOID:0111496" MONDO:0014190 "Orphanet:369913" MONDO:0014190 "OMIM:615440" -MONDO:0014190 "ICD10:E88.8" MONDO:0014190 "UMLS:C3809526" MONDO:0011457 "OMIMPS:604391" -MONDO:0011457 "ICD10:G11.3" MONDO:0011457 "OMIM:604391" MONDO:0011457 "Orphanet:251347" MONDO:0011457 "SCTID:700058006" @@ -20649,6 +20162,7 @@ MONDO:0011457 "ICD9:334.8" MONDO:0011457 "NCIT:C132224" MONDO:0011457 "MESH:C565779" MONDO:0011457 "UMLS:CN239583" +MONDO:0011457 "ICD10CM:G11.3" MONDO:0012403 "OMIM:610065" MONDO:0011825 "OMIM:607395" HP:0011226 "UMLS:C4023453" @@ -20667,7 +20181,6 @@ MONDO:0005850 "ICD9:051.1" MONDO:0005850 "DOID:8729" MONDO:0005850 "EFO:0007370" MONDO:0005850 "SCTID:27240009" -MONDO:0005850 "ICD10:B08.04" MONDO:0005850 "MESH:D011213" MONDO:0005850 "UMLS:C0026143" MONDO:0002732 "DOID:3683" @@ -20676,41 +20189,41 @@ MONDO:0002732 "SCTID:126713003" MONDO:0002732 "MESH:D008175" MONDO:0002732 "NCIT:C4454" MONDO:0017575 "MESH:C537477" -MONDO:0017575 "ICD10:G71.3" MONDO:0017575 "NCIT:C119678" +MONDO:0017575 "ICD10CM:G71.3" MONDO:0017575 "SCTID:718214007" MONDO:0017575 "GARD:0009920" MONDO:0017575 "OMIM:612075" MONDO:0017575 "OMIM:603041" MONDO:0017575 "OMIM:613662" MONDO:0017575 "Orphanet:298" -MONDO:0005380 "ICD10:M87.8" MONDO:0005380 "EFO:0004259" -MONDO:0005380 "ICD10:M87.0" +MONDO:0005380 "ICD10CM:M87.3" MONDO:0005380 "DOID:0080008" MONDO:0005380 "NCIT:C34841" -MONDO:0005380 "ICD10:M87.3" +MONDO:0005380 "ICD10CM:M87.9" MONDO:0005380 "ICD9:733.43" MONDO:0005380 "MESH:D010020" -MONDO:0005380 "ICD10:M87.9" MONDO:0005380 "ICD9:733.49" MONDO:0005380 "ICD9:732.3" MONDO:0005380 "NCIT:C35476" +MONDO:0005380 "ICD10CM:M87.0" MONDO:0005380 "SCTID:397758007" MONDO:0005380 "NCIT:C34880" -MONDO:0005380 "ICD10:M87.1" MONDO:0005380 "ICD9:733.41" +MONDO:0005380 "ICD10CM:M87" MONDO:0005380 "ICD9:733.44" MONDO:0005380 "DOID:10159" MONDO:0005380 "ICD9:733.4" -MONDO:0005380 "ICD10:M87.2" +MONDO:0005380 "ICD10CM:M87.2" +MONDO:0005380 "ICD10CM:M87.1" MONDO:0005380 "SCTID:240196003" MONDO:0005380 "ICD9:733.42" -MONDO:0005380 "ICD10:M87" +MONDO:0005380 "ICD10CM:M87.8" MONDO:0005380 "Orphanet:399158" MONDO:0005380 "GARD:0012057" +MONDO:0017228 "ICD10CM:K86.1" MONDO:0017228 "Orphanet:280315" -MONDO:0017228 "ICD10:K86.1" MONDO:0017228 "UMLS:CN202713" MONDO:0008109 "Orphanet:46486" MONDO:0008109 "NCIT:C84939" @@ -20734,15 +20247,14 @@ MONDO:0043994 "SCTID:65275009" MONDO:0012397 "OMIM:610023" MONDO:0012397 "MESH:C566484" MONDO:0012397 "UMLS:C1864901" -MONDO:0002277 "ICD10:I70" MONDO:0002277 "DOID:2349" -MONDO:0002277 "ICD10:I25.1" MONDO:0002277 "NCIT:C35771" MONDO:0002277 "UMLS:C3665365" MONDO:0002277 "NCIT:C34398" MONDO:0002277 "ICD9:440" MONDO:0002277 "MESH:D001161" MONDO:0002277 "UMLS:C0003850" +MONDO:0002277 "ICD10CM:I70" MONDO:0002277 "DOID:2348" MONDO:0002277 "CSP:0571-2299" MONDO:0002277 "EFO:0009086" @@ -20753,8 +20265,8 @@ MONDO:0002277 "HP:0002634" MONDO:0002277 "SCTID:72092001" MONDO:0019866 "SCTID:764629008" MONDO:0019866 "MESH:C537762" -MONDO:0019866 "ICD10:Q92.1" MONDO:0019866 "Orphanet:96060" +MONDO:0019866 "ICD10CM:Q92.1" MONDO:0003464 "NCIT:C8985" MONDO:0003464 "NCIT:C8987" MONDO:0003464 "DOID:5482" @@ -20764,7 +20276,6 @@ MONDO:0003640 "DOID:5769" MONDO:0003640 "ICD9:215.9" MONDO:0003640 "SCTID:254756007" MONDO:0003640 "NCIT:C4478" -MONDO:0018669 "ICD10:T63.0" MONDO:0018669 "SCTID:61288004" MONDO:0018669 "Orphanet:449285" MONDO:0018669 "UMLS:CN237735" @@ -20773,7 +20284,7 @@ MONDO:0013018 "UMLS:C2748527" MONDO:0013018 "MESH:C567553" MONDO:0013018 "Orphanet:2340" MONDO:0013018 "OMIM:612843" -MONDO:0014576 "ICD10:E88.8" +MONDO:0014576 "ICD10CM:E88.8" MONDO:0014576 "UMLS:C4225379" MONDO:0014576 "OMIM:616299" MONDO:0014576 "Orphanet:401862" @@ -20782,7 +20293,6 @@ MONDO:0001682 "SCTID:13596001" MONDO:0001682 "UMLS:C0152953" MONDO:0001682 "DOID:13310" MONDO:0001682 "ICD9:032.83" -MONDO:0001682 "ICD10:A36.89" MONDO:0002324 "ICD9:521.31" MONDO:0002324 "DOID:2497" MONDO:0004251 "SCTID:126832004" @@ -20794,6 +20304,7 @@ HP:0003074 "MSH:D006943" HP:0003074 "SNOMEDCT_US:237598005" HP:0003074 "SNOMEDCT_US:80394007" MONDO:0030985 "OMIM:619245" +MONDO:0011236 "ICD10CM:E16.1" MONDO:0011236 "GARD:0002818" MONDO:0011236 "MESH:C538374" MONDO:0011236 "OMIM:602485" @@ -20801,23 +20312,22 @@ MONDO:0011236 "GARD:0009930" MONDO:0011236 "Orphanet:79299" MONDO:0011236 "SCTID:717182006" MONDO:0011236 "DOID:0070216" -MONDO:0011236 "ICD10:E16.1" MONDO:0018168 "UMLS:CN204616" MONDO:0018168 "Orphanet:357225" -MONDO:0018168 "ICD10:Q82.8" +MONDO:0018168 "ICD10CM:Q82.8" MONDO:0016856 "Orphanet:261552" -MONDO:0016856 "ICD10:Q43.1" MONDO:0016856 "UMLS:CN202199" -MONDO:0011628 "Orphanet:35" -MONDO:0011628 "MESH:D056693" -MONDO:0011628 "UMLS:C0268579" -MONDO:0011628 "NCIT:C85030" +MONDO:0016856 "ICD10CM:Q43.1" +MONDO:0011628 "GARD:0000467" +MONDO:0011628 "ICD10CM:E71.1" MONDO:0011628 "SCTID:69080001" -MONDO:0011628 "ICD10:E71.121" +MONDO:0011628 "NCIT:C85030" MONDO:0011628 "OMIM:606054" -MONDO:0011628 "ICD10:E71.1" -MONDO:0011628 "GARD:0000467" +MONDO:0011628 "MESH:D056693" +MONDO:0011628 "ICD10CM:E71.121" MONDO:0011628 "DOID:14701" +MONDO:0011628 "Orphanet:35" +MONDO:0011628 "UMLS:C0268579" MONDO:0015641 "Orphanet:166308" NCBITaxon:34353 "GC_ID:1" MONDO:0009221 "MedDRA:10068448" @@ -20825,21 +20335,20 @@ MONDO:0009221 "Orphanet:2019" MONDO:0009221 "MESH:C537918" MONDO:0009221 "GARD:0002286" MONDO:0009221 "UMLS:C1856790" +MONDO:0009221 "ICD10CM:Q74.8" MONDO:0009221 "OMIM:228200" -MONDO:0009221 "ICD10:Q74.8" MONDO:0018378 "NCIT:C63924" MONDO:0018378 "Orphanet:399293" MONDO:0018378 "UMLS:C2711248" MONDO:0018378 "ICD9:733.45" MONDO:0018378 "SCTID:441809006" -MONDO:0018378 "ICD10:K10.2" MONDO:0003726 "NCIT:C5198" MONDO:0003726 "UMLS:C1332314" MONDO:0003726 "DOID:5999" MONDO:0001565 "SCTID:79195003" MONDO:0001565 "UMLS:C0155010" -MONDO:0001565 "ICD10:H53.31" MONDO:0001565 "ICD9:368.34" +MONDO:0001565 "ICD10CM:H53.31" MONDO:0001565 "DOID:12668" MONDO:0007468 "OMIM:126410" MONDO:0006840 "NCIT:C97087" @@ -20850,37 +20359,33 @@ MONDO:0006840 "GARD:0006933" MONDO:0013807 "UMLS:C3281215" MONDO:0013807 "OMIM:614565" MONDO:0013807 "DOID:0110869" -MONDO:0002511 "ICD10:H04.57" MONDO:0002511 "SCTID:11772001" -MONDO:0002511 "ICD10:H04.579" -MONDO:0002511 "DOID:3096" MONDO:0002511 "ICD9:375.54" +MONDO:0002511 "DOID:3096" MONDO:0010224 "SCTID:763797003" MONDO:0010224 "UMLS:C0796124" +MONDO:0010224 "ICD10CM:Q87.8" MONDO:0010224 "OMIM:300004" -MONDO:0010224 "ICD10:Q87.8" MONDO:0010224 "MESH:C563110" MONDO:0010224 "GARD:0004528" MONDO:0010224 "Orphanet:2508" MONDO:0016386 "MESH:C538075" MONDO:0016386 "UMLS:C2931722" MONDO:0016386 "Orphanet:2235" -MONDO:0019196 "ICD10:G37.4" MONDO:0019196 "Orphanet:79093" MONDO:0019196 "SCTID:230379007" +MONDO:0019196 "ICD10CM:G37.4" MONDO:0019196 "ICD9:323.9" MONDO:0019196 "UMLS:CN205776" MONDO:0000471 "DOID:0050826" -MONDO:0000471 "ICD10:I07" MONDO:0000471 "ICD9:397.0" MONDO:0000471 "SCTID:20721001" MONDO:0000471 "UMLS:C0264882" MONDO:0000471 "NCIT:C78649" MONDO:0000471 "UMLS:C0264776" -MONDO:0000471 "ICD10:I07.9" MONDO:0019762 "UMLS:CN206697" MONDO:0019762 "Orphanet:93939" -MONDO:0019762 "ICD10:Q32.1" +MONDO:0019762 "ICD10CM:Q32.1" MONDO:0002967 "DOID:4337" MONDO:0002967 "ICD9:110.0" MONDO:0002967 "UMLS:C1274426" @@ -20901,29 +20406,27 @@ MONDO:0007012 "MedDRA:10064199" MONDO:0007012 "UMLS:C0085209" MONDO:0007012 "SCTID:304603007" MONDO:0007012 "MESH:D016643" -MONDO:0007012 "ICD10:A81.01" +MONDO:0007012 "ICD10CM:A81.01" MONDO:0007012 "GARD:0009550" MONDO:0007012 "NCIT:C26802" MONDO:0007012 "DOID:5435" -MONDO:0006456 "ICD10:D15.0" MONDO:0006456 "EFO:1000581" MONDO:0006456 "MedDRA:10043670" -MONDO:0006456 "ICD10:D38.4" MONDO:0006456 "SCTID:444231005" MONDO:0006456 "DOID:3275" +MONDO:0006456 "ICD10CM:D15.0" MONDO:0006456 "NCIT:C3411" MONDO:0006456 "OMIM:274230" MONDO:0006456 "UMLS:C0040100" +MONDO:0006456 "ICD10CM:D38.4" MONDO:0006456 "ICD9:239.89" MONDO:0006456 "ONCOTREE:THYM" MONDO:0006456 "Orphanet:99867" MONDO:0006456 "ICDO:8580/1" MONDO:0006456 "HP:0100522" MONDO:0005700 "EFO:0007204" -MONDO:0005700 "ICD10:B01" MONDO:0005700 "DOID:8659" MONDO:0005700 "MESH:D002644" -MONDO:0005700 "ICD10:B01.9" MONDO:0005700 "ICD9:052.9" MONDO:0005700 "UMLS:C0008049" MONDO:0005700 "NCIT:C97132" @@ -20933,7 +20436,7 @@ NCBITaxon:12455 "PMID:25449305" NCBITaxon:12455 "GC_ID:1" MONDO:0020419 "SCTID:54682008" MONDO:0020419 "HP:0004971" -MONDO:0020419 "ICD10:Q25.7" +MONDO:0020419 "ICD10CM:Q25.7" MONDO:0020419 "Orphanet:99083" MONDO:0009442 "GARD:0002948" MONDO:0009442 "SCTID:235916001" @@ -20951,11 +20454,10 @@ NCBITaxon:600669 "GC_ID:1" MONDO:0015049 "Orphanet:100035" MONDO:0015049 "UMLS:CN197336" MONDO:0015049 "SCTID:447058001" -MONDO:0015049 "ICD10:D13.4" +MONDO:0015049 "ICD10CM:D13.4" MONDO:0001955 "DOID:14397" MONDO:0001955 "ICD9:007.8" -MONDO:0001955 "ICD10:A07.8" -MONDO:0001955 "ICD10:B50.B64" +MONDO:0001955 "ICD10CM:B50-B64" MONDO:0004941 "GARD:0006345" MONDO:0004941 "ICD9:710.5" MONDO:0004941 "DOID:998" @@ -20964,7 +20466,7 @@ MONDO:0004941 "MESH:D016603" MONDO:0004941 "EFO:1001316" MONDO:0013292 "UMLS:C3150756" MONDO:0013292 "OMIM:613509" -MONDO:0013292 "ICD10:Q93.5" +MONDO:0013292 "ICD10CM:Q93.5" MONDO:0013292 "SCTID:719660008" MONDO:0013292 "UMLS:C4304530" MONDO:0013292 "Orphanet:238750" @@ -20974,7 +20476,6 @@ MONDO:0011980 "UMLS:C1842446" MONDO:0011980 "OMIM:608173" MONDO:0020283 "DOID:13141" MONDO:0020283 "Orphanet:98715" -MONDO:0020283 "ICD10:H20.9" MONDO:0020283 "SCTID:75614007" MONDO:0020283 "EFO:1001231" MONDO:0020283 "MedDRA:10046851" @@ -20987,9 +20488,9 @@ MONDO:0023230 "MESH:C537803" MONDO:0023230 "UMLS:C2974016" MONDO:0023230 "GARD:0002467" MONDO:0010047 "OMIM:270800" -MONDO:0010047 "ICD10:G11.4" MONDO:0010047 "UMLS:C2931357" MONDO:0010047 "SCTID:763373005" +MONDO:0010047 "ICD10CM:G11.4" MONDO:0010047 "UMLS:C1849115" MONDO:0010047 "DOID:0110810" MONDO:0010047 "Orphanet:100986" @@ -20998,21 +20499,21 @@ MONDO:0011121 "Orphanet:29072" MONDO:0011121 "OMIM:601650" MONDO:0011121 "MESH:C566646" MONDO:0011121 "GARD:0010544" -MONDO:0009949 "UMLS:C2931141" -MONDO:0009949 "OMIM:266150" -MONDO:0009949 "UMLS:C0034341" -MONDO:0009949 "SCTID:87694001" -MONDO:0009949 "GARD:0007512" -MONDO:0009949 "NCIT:C85040" +MONDO:0009949 "ICD10CM:E74.4" +MONDO:0009949 "UMLS:CN203409" MONDO:0009949 "DOID:3651" -MONDO:0009949 "Orphanet:3008" MONDO:0009949 "MESH:D015324" -MONDO:0009949 "ICD10:E74.4" -MONDO:0009949 "UMLS:CN203409" -MONDO:0009949 "EFO:1001142" +MONDO:0009949 "Orphanet:3008" +MONDO:0009949 "NCIT:C85040" +MONDO:0009949 "GARD:0007512" +MONDO:0009949 "UMLS:C0034341" +MONDO:0009949 "OMIM:266150" +MONDO:0009949 "UMLS:C2931141" MONDO:0009949 "ICD9:277.89" +MONDO:0009949 "SCTID:87694001" +MONDO:0009949 "EFO:1001142" +MONDO:0015236 "ICD10CM:Q25.4" MONDO:0015236 "Orphanet:1132" -MONDO:0015236 "ICD10:Q25.4" MONDO:0015236 "GARD:0000741" NCBITaxon:5754 "GC_ID:1" MONDO:0001040 "SCTID:47841006" @@ -21020,36 +20521,34 @@ MONDO:0001040 "NCIT:C34837" MONDO:0001040 "UMLS:C0027441" MONDO:0001040 "MESH:D009304" MONDO:0001040 "UMLS:C0155826" -MONDO:0001040 "ICD10:J31.1" MONDO:0001040 "DOID:10460" MONDO:0001040 "ICD9:472.2" -MONDO:0001040 "ICD10:J00" MONDO:0017436 "Orphanet:294965" -MONDO:0017436 "ICD10:Q68.8" MONDO:0017436 "UMLS:CN239241" MONDO:0017436 "DOID:0060558" MONDO:0017436 "GARD:0012643" +MONDO:0017436 "ICD10CM:Q68.8" MONDO:0017436 "OMIMPS:253310" -MONDO:0009832 "UMLS:C1850096" MONDO:0009832 "OMIM:615935" MONDO:0009832 "Orphanet:2805" -MONDO:0009832 "ICD10:Q45.0" +MONDO:0009832 "UMLS:C1850096" MONDO:0009832 "MESH:C564908" MONDO:0009832 "DOID:0050877" MONDO:0009832 "OMIM:167755" MONDO:0009832 "OMIM:260370" MONDO:0009832 "OMIMPS:260370" +MONDO:0009832 "ICD10CM:Q45.0" MONDO:0009832 "SCTID:719044008" -MONDO:0013300 "ICD10:Q18.4" MONDO:0013300 "OMIM:613545" MONDO:0013300 "ICD9:744.83" MONDO:0013300 "SCTID:40159009" MONDO:0013300 "Orphanet:141276" MONDO:0013300 "MESH:D008265" +MONDO:0013300 "ICD10CM:Q18.4" MONDO:0019007 "Orphanet:65681" +MONDO:0019007 "ICD10CM:Q52.0" MONDO:0019007 "MedDRA:10046879" MONDO:0019007 "HP:0000148" -MONDO:0019007 "ICD10:Q52.0" MONDO:0021272 "OMIMPS:223360" MONDO:0012562 "UMLS:C1835820" MONDO:0012562 "MESH:C563660" @@ -21059,11 +20558,11 @@ MONDO:0012562 "OMIM:610828" MONDO:0032866 "OMIM:618677" MONDO:0013799 "OMIM:614546" NCBITaxon:6334 "GC_ID:1" +MONDO:0018018 "ICD10CM:E85.8" MONDO:0018018 "ICD9:277.39" MONDO:0018018 "UMLS:CN204235" MONDO:0018018 "UMLS:C0342623" MONDO:0018018 "SCTID:237877004" -MONDO:0018018 "ICD10:E85.8" MONDO:0018018 "Orphanet:330001" MONDO:0014741 "OMIM:616708" MONDO:0014741 "UMLS:C4225239" @@ -21074,13 +20573,14 @@ MONDO:0037858 "NCIT:C117115" MONDO:0001461 "ICD9:110.5" MONDO:0001461 "SCTID:84849002" MONDO:0001461 "UMLS:C0546826" -MONDO:0001461 "ICD10:B35.4" MONDO:0001461 "UMLS:C0040252" +MONDO:0001461 "ICD10CM:B35.4" MONDO:0001461 "DOID:12179" MONDO:0021545 "MESH:D019042" MONDO:0021545 "NCIT:C4063" MONDO:0021545 "MESH:D009379" MONDO:0007318 "Orphanet:52" +MONDO:0007318 "ICD10CM:Q44.7" MONDO:0007318 "DOID:9245" MONDO:0007318 "UMLS:C0085280" MONDO:0007318 "OMIMPS:118450" @@ -21088,7 +20588,6 @@ MONDO:0007318 "ICD9:759.89" MONDO:0007318 "MedDRA:10053870" MONDO:0007318 "NCIT:C35139" MONDO:0007318 "OMIM:610205" -MONDO:0007318 "ICD10:Q44.7" MONDO:0007318 "GARD:0000804" MONDO:0007318 "MESH:D016738" MONDO:0007318 "SCTID:31742004" @@ -21108,7 +20607,7 @@ MONDO:0015947 "SCTID:13059002" MONDO:0015947 "MedDRA:10021202" MONDO:0015947 "ICD9:757.1" MONDO:0015947 "Orphanet:183435" -MONDO:0015947 "ICD10:Q80" +MONDO:0015947 "ICD10CM:Q80" MONDO:0000788 "DOID:0060513" MONDO:0024298 "UMLS:C1510471" MONDO:0024298 "NCIT:C35772" @@ -21121,7 +20620,6 @@ MONDO:0024298 "ICD9:269.2" MONDO:0001734 "SCTID:7199000" MONDO:0001734 "ICD9:759.5" MONDO:0001734 "NCIT:C3424" -MONDO:0001734 "ICD10:Q85.1" MONDO:0001734 "OMIM:191100" MONDO:0001734 "OMIMPS:191100" MONDO:0001734 "MESH:D014402" @@ -21138,24 +20636,22 @@ NCBITaxon:1491 "PMID:10028279" NCBITaxon:1491 "PMID:15244052" NCBITaxon:1491 "GC_ID:11" MONDO:0002969 "UMLS:C0496833" -MONDO:0002969 "ICD10:C69.4" MONDO:0002969 "NCIT:C4766" MONDO:0002969 "DOID:4352" MONDO:0002969 "SCTID:188263008" MONDO:0002969 "NCIT:C4364" MONDO:0002969 "UMLS:C0339349" MONDO:0019365 "EFO:0007480" -MONDO:0019365 "ICD10:A75.3" -MONDO:0019365 "MESH:D012612" +MONDO:0019365 "Orphanet:83317" MONDO:0019365 "ICD9:081.2" -MONDO:0019365 "MedDRA:10039766" +MONDO:0019365 "UMLS:C0036472" MONDO:0019365 "DOID:13371" +MONDO:0019365 "MedDRA:10039766" +MONDO:0019365 "MESH:D012612" MONDO:0019365 "SCTID:271425001" -MONDO:0019365 "UMLS:C0036472" -MONDO:0019365 "Orphanet:83317" MONDO:0030281 "OMIM:619334" -MONDO:0016551 "ICD10:Q62.2" MONDO:0016551 "Orphanet:238650" +MONDO:0016551 "ICD10CM:Q62.2" MONDO:0005289 "HP:0030072" MONDO:0005289 "NCIT:C7488" MONDO:0005289 "EFO:0003866" @@ -21179,8 +20675,6 @@ MONDO:0006235 "SCTID:404035005" MONDO:0006235 "DOID:2411" MONDO:0006235 "GARD:0009618" MONDO:0006235 "MESH:C535558" -MONDO:0024306 "ICD10:E87.2" -MONDO:0024306 "UMLS_CUI:C0001125" MONDO:0024306 "EFO:1000036" MONDO:0024306 "DOID:3650" MONDO:0004074 "DOID:7013" @@ -21197,47 +20691,47 @@ MONDO:0002030 "SCTID:56728002" MONDO:0002030 "DOID:1513" MONDO:0018730 "UMLS:CN241790" MONDO:0018730 "Orphanet:459548" -MONDO:0009611 "ICD10:E71.1" MONDO:0009611 "MESH:C565393" MONDO:0009611 "OMIM:250951" MONDO:0009611 "UMLS:C0574085" MONDO:0009611 "GARD:0010342" +MONDO:0009611 "ICD10CM:E71.1" MONDO:0009611 "UMLS:C1855126" MONDO:0009611 "Orphanet:67048" MONDO:0009611 "SCTID:297233004" MONDO:0009611 "DOID:0110006" +MONDO:0010519 "ICD10CM:D56.0" MONDO:0010519 "DOID:0110030" MONDO:0010519 "GARD:0005864" MONDO:0010519 "OMIM:301040" MONDO:0010519 "UMLS:C1845055" MONDO:0010519 "SCTID:715342005" -MONDO:0010519 "ICD10:D56.0" MONDO:0010519 "NCIT:C118631" MONDO:0010519 "MESH:C538258" MONDO:0010519 "Orphanet:847" MONDO:0016679 "Orphanet:251558" MONDO:0001957 "SCTID:230594005" MONDO:0001957 "UMLS:C0393851" +MONDO:0001957 "ICD10CM:G62.81" MONDO:0001957 "ICD9:357.82" -MONDO:0001957 "ICD10:G62.81" MONDO:0001957 "DOID:14402" MONDO:0018879 "SCTID:64540004" +MONDO:0018879 "ICD10CM:L66.1" MONDO:0018879 "MESH:C535892" MONDO:0018879 "Orphanet:525" MONDO:0018879 "UMLS:C0023645" -MONDO:0018879 "ICD10:L66.1" MONDO:0018879 "GARD:0003247" MONDO:0017625 "UMLS:CN227163" MONDO:0017625 "SCTID:711151004" MONDO:0017625 "Orphanet:306519" -MONDO:0018708 "ICD10:C02.4" -MONDO:0018708 "ICD10:C02.0" -MONDO:0018708 "ICD10:C02.8" +MONDO:0018708 "ICD10CM:C02.3" +MONDO:0018708 "ICD10CM:C02.4" MONDO:0018708 "Orphanet:457252" +MONDO:0018708 "ICD10CM:C02.1" +MONDO:0018708 "ICD10CM:C02.8" MONDO:0018708 "UMLS:CN242132" -MONDO:0018708 "ICD10:C02.1" -MONDO:0018708 "ICD10:C02.2" -MONDO:0018708 "ICD10:C02.3" +MONDO:0018708 "ICD10CM:C02.2" +MONDO:0018708 "ICD10CM:C02.0" MONDO:0017992 "UMLS:CN237438" MONDO:0017992 "Orphanet:329173" MONDO:0017992 "OMIM:615895" @@ -21248,15 +20742,15 @@ MONDO:0012341 "OMIM:609755" MONDO:0007676 "OMIM:138340" MONDO:0032669 "OMIM:618312" HP:0001637 "UMLS:C4025758" -MONDO:0009247 "ICD10:Q75.8" MONDO:0009247 "SCTID:716022002" MONDO:0009247 "Orphanet:1791" MONDO:0009247 "UMLS:C2931720" +MONDO:0009247 "ICD10CM:Q75.8" MONDO:0009247 "OMIM:229400" MONDO:0009247 "MESH:C538063" MONDO:0009247 "GARD:0002390" -MONDO:0015843 "ICD10:Q51.8" MONDO:0015843 "Orphanet:180139" +MONDO:0015843 "ICD10CM:Q51.8" MONDO:0015843 "MedDRA:10063146" MONDO:0002537 "NCIT:C3793" MONDO:0002537 "UMLS:C0206721" @@ -21268,7 +20762,6 @@ MONDO:0030603 "MESH:D007710" MONDO:0030603 "EFO:1001353" MONDO:0030603 "SCTID:721756002" MONDO:0030603 "GARD:0010085" -MONDO:0010383 "ICD10:Q99.2" MONDO:0010383 "ICD9:759.83" MONDO:0010383 "UMLS:C0016667" MONDO:0010383 "OMIM:300624" @@ -21300,9 +20793,9 @@ MONDO:0013097 "UMLS:C2751637" MONDO:0013097 "OMIM:613033" MONDO:0011785 "OMIM:607152" MONDO:0011785 "DOID:0110772" -MONDO:0011785 "ICD10:G11.4" MONDO:0011785 "GARD:0009588" MONDO:0011785 "MESH:C536856" +MONDO:0011785 "ICD10CM:G11.4" MONDO:0011785 "SCTID:763375003" MONDO:0011785 "Orphanet:100999" MONDO:0011785 "UMLS:C1846685" @@ -21320,8 +20813,8 @@ MONDO:0006925 "UMLS:C1258222" MONDO:0006925 "EFO:1001126" MONDO:0006925 "MESH:D045825" MONDO:0010570 "DOID:14737" +MONDO:0010570 "ICD10CM:Q87.1" MONDO:0010570 "SCTID:715421009" -MONDO:0010570 "ICD10:Q87.1" MONDO:0010570 "UMLS:C0220767" MONDO:0010570 "OMIM:304110" MONDO:0010570 "Orphanet:1520" @@ -21347,17 +20840,16 @@ MONDO:0021324 "SCTID:187724003" MONDO:0021324 "NCIT:C4764" MONDO:0021324 "UMLS:C0496775" MONDO:0021324 "ICD9:150.2" +MONDO:0013144 "OMIM:613118" +MONDO:0013144 "SCTID:36351005" MONDO:0013144 "MESH:D020152" -MONDO:0013144 "ICD10:D68.59" +MONDO:0013144 "ICD10CM:D68.5" +MONDO:0013144 "GARD:0006148" MONDO:0013144 "UMLS:C0272375" MONDO:0013144 "Orphanet:82" -MONDO:0013144 "DOID:3755" -MONDO:0013144 "GARD:0006148" MONDO:0013144 "NCIT:C98815" +MONDO:0013144 "DOID:3755" MONDO:0013144 "ICD9:286.9" -MONDO:0013144 "SCTID:36351005" -MONDO:0013144 "ICD10:D68.5" -MONDO:0013144 "OMIM:613118" MONDO:0003024 "NCIT:C5184" MONDO:0003024 "GARD:0009974" MONDO:0003024 "MESH:C536368" @@ -21365,7 +20857,7 @@ MONDO:0003024 "UMLS:C1332614" MONDO:0003024 "DOID:4511" MONDO:0003024 "ONCOTREE:BA" MONDO:0005913 "UMLS:C0030372" -MONDO:0005913 "ICD10:A93.1" +MONDO:0005913 "ICD10CM:A93.1" MONDO:0005913 "SCTID:407476002" MONDO:0005913 "EFO:0007437" MONDO:0005913 "MESH:D010217" @@ -21378,9 +20870,9 @@ MONDO:0027676 "DOID:0080207" MONDO:0012952 "OMIM:612590" MONDO:0019858 "Orphanet:95717" MONDO:0019858 "SCTID:717334008" +MONDO:0019858 "ICD10CM:E03.1" MONDO:0019858 "UMLS:C4273913" -MONDO:0019858 "ICD10:E03.1" -MONDO:0008305 "ICD10:Q87.8" +MONDO:0008305 "ICD10CM:Q87.8" MONDO:0008305 "SCTID:413936007" MONDO:0008305 "Orphanet:1552" MONDO:0008305 "MESH:C536221" @@ -21390,10 +20882,10 @@ MONDO:0008305 "OMIM:176450" MONDO:0008305 "DOID:0111546" MONDO:0008305 "GARD:0001626" MONDO:0008305 "ICD9:759.89" +MONDO:0014546 "ICD10CM:G71.8" MONDO:0014546 "OMIM:616231" MONDO:0014546 "Orphanet:88635" MONDO:0014546 "UMLS:C4510368" -MONDO:0014546 "ICD10:G71.8" MONDO:0014546 "SCTID:724095006" MONDO:0014546 "UMLS:C4015624" MONDO:0005139 "UMLS:C0028756" @@ -21418,14 +20910,15 @@ MONDO:0014937 "MESH:C536372" MONDO:0008515 "MESH:C566092" MONDO:0008515 "SCTID:719158007" MONDO:0008515 "GARD:0004434" -MONDO:0008515 "ICD10:Q70.4" MONDO:0008515 "UMLS:C1861355" MONDO:0008515 "Orphanet:93405" MONDO:0008515 "OMIM:186200" +MONDO:0008515 "ICD10CM:Q70.4" MONDO:0032858 "OMIM:618663" MONDO:0024308 "SCTID:252246005" MONDO:0024308 "ICD9:757.39" MONDO:0009026 "SCTID:309776008" +MONDO:0009026 "ICD10CM:Q87.8" MONDO:0009026 "GARD:0001550" MONDO:0009026 "MESH:D056685" MONDO:0009026 "UMLS:C0587248" @@ -21433,14 +20926,13 @@ MONDO:0009026 "MedDRA:10067380" MONDO:0009026 "NCIT:C84652" MONDO:0009026 "DOID:0050469" MONDO:0009026 "Orphanet:3071" -MONDO:0009026 "ICD10:Q87.8" MONDO:0009026 "ICD9:799.89" MONDO:0009026 "OMIM:218040" MONDO:0016529 "GARD:0001975" MONDO:0016529 "Orphanet:237" MONDO:0016529 "SCTID:69015003" MONDO:0016529 "ICD9:753.8" -MONDO:0016529 "ICD10:Q64.7" +MONDO:0016529 "ICD10CM:Q64.7" CL:0000838 "CALOHA:TS-2025" CL:0000838 "FMA:70338" CL:0000838 "BTO:0004731" @@ -21449,21 +20941,21 @@ MONDO:0014733 "OMIM:616684" MONDO:0014733 "Orphanet:391351" MONDO:0014733 "DOID:0110187" MONDO:0014733 "UMLS:C4225246" -MONDO:0014733 "ICD10:G60.0" +MONDO:0014733 "ICD10CM:G60.0" MONDO:0005326 "EFO:0003958" MONDO:0005326 "NCIT:C3395" MONDO:0005326 "MESH:D013471" MONDO:0005326 "ICD9:692.71" -MONDO:0005326 "ICD10:L55" +MONDO:0005326 "ICD10CM:L55" MONDO:0005326 "SCTID:403194002" MONDO:0006400 "UMLS:C0279738" MONDO:0006400 "NCIT:C8013" MONDO:0006400 "EFO:1000513" HP:0003521 "UMLS:C1846435" MONDO:0008702 "GARD:0008713" +MONDO:0008702 "ICD10CM:Q77.0" MONDO:0008702 "Orphanet:93297" MONDO:0008702 "Orphanet:93296" -MONDO:0008702 "ICD10:Q77.0" MONDO:0008702 "MESH:C536017" MONDO:0008702 "OMIM:200610" MONDO:0008702 "DOID:0080056" @@ -21478,11 +20970,11 @@ MONDO:0020379 "GARD:0001898" MONDO:0020379 "OMIM:607304" MONDO:0020379 "OMIM:610019" MONDO:0020379 "Orphanet:98995" +MONDO:0020379 "ICD10CM:Q12.0" MONDO:0020379 "UMLS:CN207251" MONDO:0020379 "OMIM:605728" MONDO:0020379 "OMIM:609376" MONDO:0020379 "OMIM:613763" -MONDO:0020379 "ICD10:Q12.0" MONDO:0020379 "OMIM:116400" MONDO:0012775 "UMLS:C2677608" MONDO:0012775 "Orphanet:268322" @@ -21493,22 +20985,22 @@ NCBITaxon:2732004 "GC_ID:1" MONDO:0007841 "SCTID:720752007" MONDO:0007841 "UMLS:C1840061" MONDO:0007841 "MESH:C535540" +MONDO:0007841 "ICD10CM:Q74.1" MONDO:0007841 "GARD:0003030" MONDO:0007841 "Orphanet:1509" MONDO:0007841 "DOID:0111382" -MONDO:0007841 "ICD10:Q74.1" MONDO:0007841 "OMIM:147891" NCBITaxon:6157 "GC_ID:1" MONDO:0015446 "Orphanet:1456" +MONDO:0015446 "ICD10CM:Q25.1" MONDO:0015446 "UMLS:C3805239" MONDO:0015446 "SCTID:471268000" -MONDO:0015446 "ICD10:Q25.1" MONDO:0015446 "UMLS:C3496579" +MONDO:0019188 "ICD10CM:Q87.2" MONDO:0019188 "UMLS:C0035934" MONDO:0019188 "OMIM:613684" MONDO:0019188 "GARD:0007593" MONDO:0019188 "NCIT:C75466" -MONDO:0019188 "ICD10:Q87.2" MONDO:0019188 "MESH:D012415" MONDO:0019188 "MedDRA:10039281" MONDO:0019188 "ICD9:759.89" @@ -21521,15 +21013,15 @@ MONDO:0019188 "OMIMPS:180849" CL:0000040 "CALOHA:TS-1195" CL:0000040 "FMA:83553" MONDO:0030992 "OMIM:619234" -MONDO:0018574 "ICD10:Q87.0" +MONDO:0018574 "ICD10CM:Q87.0" MONDO:0018574 "UMLS:CN237587" MONDO:0018574 "OMIM:616083" MONDO:0018574 "Orphanet:436151" MONDO:0018574 "OMIM:616078" MONDO:0017320 "NCIT:C99015" -MONDO:0017320 "Orphanet:2880" MONDO:0017320 "ICD9:277.89" -MONDO:0017320 "ICD10:E74.4" +MONDO:0017320 "Orphanet:2880" +MONDO:0017320 "ICD10CM:E74.4" MONDO:0017320 "OMIM:261650" MONDO:0017320 "OMIM:261680" MONDO:0017320 "UMLS:C0268194" @@ -21537,25 +21029,24 @@ MONDO:0017320 "MESH:C536654" MONDO:0017320 "SCTID:5335002" MONDO:0002316 "DOID:2477" MONDO:0002316 "SCTID:95663000" -MONDO:0002316 "ICD10:G60.0" MONDO:0002316 "ICD9:356.9" MONDO:0002316 "NCIT:C75467" MONDO:0002316 "NCIT:C3500" +MONDO:0019905 "ICD10CM:Q93.2" MONDO:0019905 "UMLS:CN036105" MONDO:0019905 "GARD:0001348" MONDO:0019905 "Orphanet:96173" MONDO:0019905 "SCTID:60650002" -MONDO:0019905 "ICD10:Q93.2" MONDO:0019905 "MESH:C538022" MONDO:0010162 "DOID:0050727" MONDO:0010162 "UMLS:C0268623" MONDO:0010162 "OMIM:276710" +MONDO:0010162 "ICD10CM:E70.2" MONDO:0010162 "MedDRA:10069461" MONDO:0010162 "GARD:0010332" MONDO:0010162 "Orphanet:69723" MONDO:0010162 "SCTID:415764005" MONDO:0010162 "ICD9:270.2" -MONDO:0010162 "ICD10:E70.2" MONDO:0060631 "UMLS:CN737163" MONDO:0060631 "DOID:0111555" MONDO:0060631 "OMIM:617822" @@ -21566,33 +21057,31 @@ MONDO:0006058 "MESH:D009396" MONDO:0006058 "UMLS:CN244940" MONDO:0014021 "Orphanet:391389" MONDO:0014021 "UMLS:C3808667" -MONDO:0014021 "ICD10:M79.6" MONDO:0014021 "Orphanet:391384" +MONDO:0014021 "ICD10CM:M79.6" MONDO:0014021 "OMIM:615040" MONDO:0014021 "UMLS:CN204968" -MONDO:0004746 "ICD10:H05.82" MONDO:0004746 "SCTID:57130002" MONDO:0004746 "ICD9:376.82" MONDO:0004746 "UMLS:C0155286" MONDO:0004746 "DOID:929" +MONDO:0010993 "ICD10CM:Q87.8" MONDO:0010993 "OMIM:601095" MONDO:0010993 "GARD:0002601" MONDO:0010993 "UMLS:C0795970" MONDO:0010993 "MESH:C535635" MONDO:0010993 "Orphanet:2115" MONDO:0010993 "SCTID:716089008" -MONDO:0010993 "ICD10:Q87.8" MONDO:0011635 "UMLS:C1853686" MONDO:0011635 "OMIM:606082" MONDO:0011635 "MESH:C565260" -MONDO:0016887 "ICD10:Q93.4" MONDO:0016887 "Orphanet:261893" MONDO:0016887 "UMLS:C0010314" MONDO:0044993 "SCTID:50330009" HP:0010935 "UMLS:C4023641" MONDO:0015362 "Orphanet:140465" MONDO:0015362 "UMLS:CN228930" -MONDO:0015362 "ICD10:G12.1" +MONDO:0015362 "ICD10CM:G12.1" MONDO:0015362 "DOID:0111198" MONDO:0008696 "UMLS:C1860215" MONDO:0008696 "OMIM:200170" @@ -21602,10 +21091,10 @@ MONDO:0008696 "GARD:0000453" MONDO:0016004 "MedDRA:10071183" MONDO:0016004 "NCIT:C98928" MONDO:0016004 "Orphanet:1908" -MONDO:0016004 "ICD10:Q86.8" MONDO:0016004 "UMLS:C0432367" MONDO:0016004 "GARD:0002294" MONDO:0016004 "ICD9:759.89" +MONDO:0016004 "ICD10CM:Q86.8" MONDO:0016004 "SCTID:65986000" MONDO:0009770 "OMIM:257920" MONDO:0009770 "Orphanet:293843" @@ -21621,22 +21110,20 @@ MONDO:0014325 "UMLS:C3714949" MONDO:0014325 "Orphanet:2309" MONDO:0014325 "OMIM:615728" MONDO:0003757 "UMLS:C0030486" -MONDO:0003757 "ICD10:G82.20" MONDO:0003757 "MESH:D010264" -MONDO:0003757 "ICD10:G82.2" MONDO:0003757 "DOID:607" MONDO:0003757 "GARD:0007327" MONDO:0003757 "SCTID:60389000" MONDO:0003757 "NCIT:C50687" MONDO:0003757 "ICD9:344.1" +NCBITaxon:1463975 "GC_ID:1" MONDO:0007499 "OMIM:128500" MONDO:0013262 "GARD:0012832" MONDO:0013262 "Orphanet:54260" MONDO:0013262 "MESH:C563538" MONDO:0013262 "DOID:0110454" -MONDO:0013262 "ICD10:I42.0" MONDO:0013262 "OMIM:613426" -NCBITaxon:1463975 "GC_ID:1" +MONDO:0013262 "ICD10CM:I42.0" HP:0100765 "UMLS:C4021975" MONDO:0010876 "GARD:0000754" MONDO:0010876 "UMLS:C1838206" @@ -21644,35 +21131,34 @@ MONDO:0010876 "OMIM:600360" MONDO:0010876 "SCTID:723500009" MONDO:0010876 "Orphanet:1115" MONDO:0010876 "MESH:C536840" -MONDO:0010876 "ICD10:Q84.8" +MONDO:0010876 "ICD10CM:Q84.8" MONDO:0100388 "NCIT:C36523" MONDO:0011822 "SCTID:700111000" +MONDO:0011822 "ICD10CM:E26.8" MONDO:0011822 "GARD:0009659" MONDO:0011822 "OMIM:607364" MONDO:0011822 "Orphanet:93605" MONDO:0011822 "Orphanet:112" -MONDO:0011822 "ICD10:E26.8" MONDO:0011822 "DOID:0110144" MONDO:0011822 "UMLS:C1846343" MONDO:0005328 "ICD9:360.9" MONDO:0005328 "SCTID:371409005" -MONDO:0005328 "ICD10:H44" MONDO:0005328 "DOID:5614" MONDO:0005328 "NCIT:C26767" MONDO:0005328 "ICD9:360" +MONDO:0005328 "ICD10CM:H55-H57" MONDO:0005328 "ICD9:379.8" +MONDO:0005328 "ICD10CM:H00-H59" MONDO:0005328 "MESH:D005128" -MONDO:0005328 "ICD10:H44.9" MONDO:0005328 "UMLS:C0015397" MONDO:0005328 "EFO:0003966" MONDO:0005328 "SCTID:371405004" MONDO:0005328 "ICD9:379.90" MONDO:0005328 "ICD9:360.89" MONDO:0017491 "Orphanet:295079" -MONDO:0017491 "ICD10:Q72.5" +MONDO:0017491 "ICD10CM:Q72.5" MONDO:0017491 "UMLS:CN203229" MONDO:0008704 "OMIM:200900" -MONDO:0008704 "ICD10:D82.2" MONDO:0008704 "GARD:0000463" MONDO:0008704 "MESH:C565984" MONDO:0008704 "GARD:0002988" @@ -21682,16 +21168,14 @@ MONDO:0015245 "Orphanet:117569" MONDO:0012367 "DOID:0110391" MONDO:0012367 "GARD:0010396" MONDO:0012367 "UMLS:C1835923" -MONDO:0012367 "ICD10:H35.5" MONDO:0012367 "OMIM:609923" MONDO:0012367 "MESH:C563685" MONDO:0001799 "ICD9:379.14" -MONDO:0001799 "ICD10:H15.82" MONDO:0001799 "DOID:13787" MONDO:0001799 "UMLS:C0155362" MONDO:0001799 "SCTID:21946002" MONDO:0007507 "Orphanet:1658" -MONDO:0007507 "ICD10:Q82.8" +MONDO:0007507 "ICD10CM:Q82.8" MONDO:0007507 "OMIM:129200" MONDO:0007507 "GARD:0002336" MONDO:0007507 "MESH:C537659" @@ -21705,7 +21189,7 @@ MONDO:0006791 "HP:0012188" NCBITaxon:160008 "GC_ID:1" MONDO:0010908 "UMLS:C0406468" MONDO:0010908 "MESH:D058247" -MONDO:0010908 "ICD10:L65.1" +MONDO:0010908 "ICD10CM:L65.1" MONDO:0010908 "ICD9:704.8" MONDO:0010908 "DOID:0111702" MONDO:0010908 "SCTID:238735005" @@ -21717,15 +21201,16 @@ MONDO:0020088 "OMIMPS:151660" MONDO:0020088 "Orphanet:98306" MONDO:0020088 "OMIM:613877" MONDO:0020088 "OMIM:604367" +MONDO:0020088 "ICD10CM:E88.1" MONDO:0020088 "MESH:D052496" MONDO:0020088 "DOID:0050440" MONDO:0020088 "SCTID:49292002" MONDO:0020088 "OMIM:151660" -MONDO:0020088 "ICD10:E88.1" MONDO:0020088 "GARD:0011962" MONDO:0020088 "UMLS:C0271694" MONDO:0020088 "OMIM:615238" MONDO:0020088 "OMIM:608600" +MONDO:0006769 "ICD10CM:K31.84" MONDO:0006769 "SCTID:196753007" MONDO:0006769 "NCIT:C80512" MONDO:0006769 "ICD9:536.3" @@ -21734,22 +21219,17 @@ MONDO:0006769 "EFO:1000948" MONDO:0006769 "HP:0002578" MONDO:0006769 "DOID:11914" MONDO:0006769 "MESH:D018589" -MONDO:0006769 "ICD10:K31.84" MONDO:0006769 "UMLS:C0152020" MONDO:0005515 "ICD9:145.8" MONDO:0005515 "NCIT:C9314" -MONDO:0005515 "ICD10:C04.1" MONDO:0005515 "ICD9:144.0" MONDO:0005515 "SCTID:363505006" MONDO:0005515 "ICD9:149.8" -MONDO:0005515 "ICD10:C04.0" MONDO:0005515 "DOID:8618" MONDO:0005515 "ICD9:144.9" MONDO:0005515 "ICD9:145.9" MONDO:0005515 "EFO:0005570" -MONDO:0005515 "ICD10:C04.9" MONDO:0005515 "ICD9:144.1" -MONDO:0005515 "ICD10:C04" MONDO:0005515 "ICD9:144" NCBITaxon:36086 "GC_ID:1" MONDO:0007715 "MESH:C564197" @@ -21758,7 +21238,6 @@ MONDO:0007715 "OMIM:141700" MONDO:0001901 "SCTID:190981001" MONDO:0001901 "MESH:D017099" MONDO:0001901 "ICD9:279.03" -MONDO:0001901 "ICD10:D80.3" MONDO:0001901 "DOID:14176" MONDO:0001901 "NCIT:C27024" MONDO:0014806 "OMIM:271225" @@ -21779,11 +21258,10 @@ MONDO:0004221 "ONCOTREE:UPECOMA" MONDO:0004221 "UMLS:C1519862" MONDO:0004221 "DOID:7437" MONDO:0016308 "Orphanet:216978" +MONDO:0016308 "ICD10CM:E75.2" MONDO:0016308 "UMLS:CN201114" -MONDO:0016308 "ICD10:E75.2" MONDO:0001470 "SCTID:255084004" MONDO:0001470 "DOID:12239" -MONDO:0001470 "ICD10:C44.520" MONDO:0001470 "ICD9:173.5" MONDO:0001470 "NCIT:C6925" MONDO:0001470 "UMLS:C1412037" @@ -21811,7 +21289,6 @@ MONDO:0018940 "OMIM:616323" MONDO:0018940 "ICD9:V17.89" MONDO:0018940 "OMIM:614750" MONDO:0018940 "OMIM:616228" -MONDO:0018940 "ICD10:G70.2" MONDO:0018940 "OMIM:616325" MONDO:0018940 "OMIM:616324" MONDO:0018940 "OMIM:616304" @@ -21828,6 +21305,7 @@ MONDO:0018940 "DOID:3635" MONDO:0018940 "OMIM:601462" MONDO:0006956 "ICD9:083.9" MONDO:0006956 "Orphanet:102021" +MONDO:0006956 "ICD10CM:A75-A79" MONDO:0006956 "UMLS:C0035585" MONDO:0006956 "MedDRA:10061495" MONDO:0006956 "MESH:D012282" @@ -21835,11 +21313,11 @@ MONDO:0006956 "SCTID:37246009" MONDO:0006956 "EFO:1001162" MONDO:0006956 "NCIT:C34991" MONDO:0011152 "DOID:0050722" -MONDO:0011152 "ICD10:E72.8" MONDO:0011152 "MESH:C566618" MONDO:0011152 "OMIM:601815" MONDO:0011152 "UMLS:C0580190" MONDO:0011152 "Orphanet:79351" +MONDO:0011152 "ICD10CM:E72.8" MONDO:0011152 "UMLS:C1866174" MONDO:0010596 "OMIM:305800" MONDO:0010596 "Orphanet:54370" @@ -21849,11 +21327,9 @@ MONDO:0008171 "UMLS:C0156257" MONDO:0008171 "SCTID:266556005" MONDO:0008171 "EFO:0004253" MONDO:0008171 "UMLS:C0392525" -MONDO:0008171 "ICD10:N20.2" MONDO:0008171 "EFO:0003845" MONDO:0008171 "OMIM:605990" MONDO:0008171 "ICD9:592" -MONDO:0008171 "ICD10:N20" MONDO:0008171 "DOID:585" MONDO:0008171 "NCIT:C114667" MONDO:0008171 "MESH:D053040" @@ -21873,7 +21349,6 @@ MONDO:0012625 "DOID:0110399" MONDO:0012625 "Orphanet:791" MONDO:0012625 "UMLS:C1970163" MONDO:0012625 "OMIM:611131" -MONDO:0012625 "ICD10:H35.5" MONDO:0012625 "MESH:C567005" MONDO:0054593 "UMLS:C4479608" MONDO:0054593 "OMIM:617520" @@ -21885,18 +21360,18 @@ MONDO:0005662 "DOID:12386" MONDO:0005662 "EFO:0007163" MONDO:0005662 "NCIT:C84583" MONDO:0005662 "ICD9:007.0" +MONDO:0005662 "ICD10CM:A07.0" MONDO:0005662 "Orphanet:1223" MONDO:0005662 "GARD:0000809" MONDO:0005662 "MedDRA:10004080" -MONDO:0005662 "ICD10:A07.0" MONDO:0016718 "ONCOTREE:CPC" MONDO:0016718 "Orphanet:251899" MONDO:0016718 "GARD:0008238" MONDO:0016718 "SCTID:188292007" MONDO:0016718 "OMIM:260500" MONDO:0016718 "MESH:C562943" +MONDO:0016718 "ICD10CM:C71.7" MONDO:0016718 "NCIT:C4533" -MONDO:0016718 "ICD10:C71.7" MONDO:0016718 "NCIT:C4715" MONDO:0016718 "ICDO:9390/3" MONDO:0016718 "MedDRA:10067478" @@ -21907,39 +21382,39 @@ MONDO:0004609 "EFO:1002022" MONDO:0004609 "ICD9:058.89" MONDO:0004609 "ICD9:054" MONDO:0004609 "MESH:D006561" +MONDO:0004609 "ICD10CM:B00" MONDO:0004609 "UMLS:C0019348" -MONDO:0004609 "ICD10:B00.9" -MONDO:0004609 "ICD10:B00" MONDO:0034146 "Orphanet:557056" MONDO:0007384 "Orphanet:231013" MONDO:0007384 "OMIM:122450" MONDO:0007384 "MESH:C536440" MONDO:0007384 "GARD:0010034" +MONDO:0007384 "ICD10CM:G50.8" MONDO:0007384 "SCTID:763218005" MONDO:0007384 "UMLS:C1852541" -MONDO:0007384 "ICD10:G50.8" HP:0010866 "UMLS:C0238577" MONDO:0019038 "UMLS:CN205523" MONDO:0019038 "Orphanet:68329" MONDO:0007560 "Orphanet:166433" -MONDO:0007560 "ICD10:G40.8" MONDO:0007560 "OMIM:132300" MONDO:0007560 "UMLS:C0278193" +MONDO:0007560 "ICD10CM:G40.8" MONDO:0021389 "ICDO:8691/1" MONDO:0021389 "NCIT:C4218" MONDO:0021389 "ICD9:239.7" MONDO:0021389 "UMLS:C0334417" MONDO:0021389 "SCTID:127029006" HP:0002334 "UMLS:C4025712" -MONDO:0019374 "ICD10:G11.1" MONDO:0019374 "GARD:0009977" +MONDO:0019374 "ICD10CM:G11.1" MONDO:0019374 "UMLS:C1847114" +MONDO:0019374 "OMIM:606937" MONDO:0019374 "SCTID:726031001" MONDO:0019374 "UMLS:C4511633" MONDO:0019374 "Orphanet:83472" MONDO:0019550 "Orphanet:90119" -MONDO:0019550 "ICD10:G60.0" MONDO:0019550 "UMLS:CN206379" +MONDO:0019550 "ICD10CM:G60.0" MONDO:0022921 "GARD:0000233" MONDO:0018177 "ONCOTREE:GB" MONDO:0018177 "UMLS:C0017636" @@ -21954,26 +21429,26 @@ MONDO:0018177 "MedDRA:10018336" MONDO:0018177 "Orphanet:360" MONDO:0018177 "GARD:0002491" MONDO:0018177 "ONCOTREE:GBM" -MONDO:0018177 "ICD10:C71.9" MONDO:0018177 "SCTID:393563007" MONDO:0018177 "OMIM:613029" MONDO:0018177 "NCIT:C3058" +MONDO:0018177 "ICD10CM:C71.9" MONDO:0018177 "DOID:3068" MONDO:0008288 "MESH:D011151" MONDO:0008288 "ICD9:727.51" MONDO:0008288 "OMIM:175750" MONDO:0008288 "SCTID:82675004" -MONDO:0018353 "UMLS:CN226092" -MONDO:0018353 "EFO:0009266" -MONDO:0018353 "ICD10:K90.0" -MONDO:0018353 "Orphanet:398063" -MONDO:0004044 "DOID:6936" -MONDO:0004044 "NCIT:C6160" -MONDO:0004044 "UMLS:C1519823" MONDO:0011637 "GARD:0008451" MONDO:0011637 "UMLS:C1853616" MONDO:0011637 "MESH:C537579" MONDO:0011637 "OMIM:606156" +MONDO:0004044 "DOID:6936" +MONDO:0004044 "NCIT:C6160" +MONDO:0004044 "UMLS:C1519823" +MONDO:0018353 "ICD10CM:K90.0" +MONDO:0018353 "UMLS:CN226092" +MONDO:0018353 "EFO:0009266" +MONDO:0018353 "Orphanet:398063" MONDO:0017797 "UMLS:CN203756" MONDO:0017797 "Orphanet:314425" MONDO:0006244 "UMLS:C1960398" @@ -21988,21 +21463,21 @@ MONDO:0021576 "NCIT:C40111" MONDO:0009620 "Orphanet:3132" MONDO:0009620 "OMIM:251240" MONDO:0009620 "SCTID:721903007" -MONDO:0009620 "ICD10:Q87.8" MONDO:0009620 "GARD:0000239" +MONDO:0009620 "ICD10CM:Q87.8" MONDO:0009620 "MESH:C536618" NCBITaxon:1129771 "GC_ID:11" +MONDO:0016395 "ICD10CM:H26.0" MONDO:0016395 "OMIM:136520" MONDO:0016395 "Orphanet:2253" -MONDO:0016395 "ICD10:H26.0" MONDO:0016395 "UMLS:C2931644" MONDO:0016395 "MESH:C537858" MONDO:0015141 "UMLS:CN197487" MONDO:0015141 "Orphanet:102000" MONDO:0010878 "DOID:0110811" +MONDO:0010878 "ICD10CM:G11.4" MONDO:0010878 "GARD:0004928" MONDO:0010878 "OMIM:600363" -MONDO:0010878 "ICD10:G11.4" MONDO:0010878 "SCTID:732949006" MONDO:0010878 "UMLS:C1838192" MONDO:0010878 "MESH:C536866" @@ -22010,6 +21485,7 @@ MONDO:0010878 "UMLS:C4518537" MONDO:0010878 "Orphanet:100988" MONDO:0005485 "ICD9:298.8" MONDO:0005485 "HP:0000709" +MONDO:0005485 "ICD10CM:F20-F29" MONDO:0005485 "NCIT:C78576" MONDO:0005485 "EFO:0005407" MONDO:0005485 "DOID:2468" @@ -22027,7 +21503,6 @@ MONDO:0009948 "NCIT:C98943" MONDO:0009948 "MESH:C563004" MONDO:0019771 "Orphanet:93958" MONDO:0019771 "UMLS:C0393607" -MONDO:0019771 "ICD10:G24.4" MONDO:0019771 "DOID:0050843" MONDO:0010017 "Orphanet:158029" MONDO:0010017 "EFO:1001170" @@ -22037,8 +21512,8 @@ MONDO:0010017 "NCIT:C85062" MONDO:0010017 "GARD:0008241" MONDO:0010017 "MESH:D012618" MONDO:0010017 "DOID:4423" +MONDO:0010017 "ICD10CM:D76.3" MONDO:0010017 "SCTID:37821003" -MONDO:0010017 "ICD10:D76.3" MONDO:0022180 "GARD:0007060" MONDO:0022180 "NCIT:C37866" MONDO:0014798 "OMIM:616849" @@ -22074,22 +21549,22 @@ MONDO:0012146 "GARD:0009928" MONDO:0012146 "Orphanet:540" MONDO:0004473 "NCIT:C35697" MONDO:0004473 "DOID:8133" +MONDO:0004473 "ICD10CM:C10.1" MONDO:0004473 "SCTID:187681002" MONDO:0004473 "NCIT:C4836" -MONDO:0004473 "ICD10:C10.1" MONDO:0004473 "ICD9:146.4" MONDO:0002139 "UMLS:C0037072" MONDO:0002139 "DOID:1897" MONDO:0002139 "MESH:D012810" HP:0007369 "UMLS:C4024898" -CL:1000495 "FMA:86929" MONDO:0024337 "NCIT:C39852" MONDO:0024337 "UMLS:C1519840" +CL:1000495 "FMA:86929" MONDO:0003276 "SCTID:68996008" MONDO:0003276 "DOID:5100" MONDO:0003276 "NCIT:C27065" MONDO:0003276 "UMLS:C0271428" -MONDO:0011458 "ICD10:H35.5" +MONDO:0003276 "ICD10CM:H65-H75" MONDO:0011458 "DOID:0110332" MONDO:0011458 "UMLS:C1858386" MONDO:0011458 "OMIM:604393" @@ -22099,7 +21574,6 @@ MONDO:0011458 "Orphanet:791" MONDO:0011458 "Orphanet:65" MONDO:0011458 "GARD:0009662" HP:0001965 "UMLS:C4025734" -MONDO:0000710 "ICD10:K50.0" MONDO:0000710 "DOID:0060191" MONDO:0012404 "OMIM:610066" MONDO:0002475 "SCTID:254988008" @@ -22114,25 +21588,25 @@ MONDO:0006652 "MedDRA:10068109" MONDO:0006652 "EFO:1000812" MONDO:0021450 "NCIT:C3605" MONDO:0021450 "ICD9:212.7" -MONDO:0021450 "ICD10:D15.1" MONDO:0021450 "SCTID:92132009" MONDO:0021450 "UMLS:C0153957" +MONDO:0021450 "ICD10CM:D15.1" MONDO:0005194 "EFO:0002622" MONDO:0005194 "UMLS:C0035869" MONDO:0005194 "SCTID:18624000" MONDO:0005194 "ICD9:078.89" MONDO:0005194 "MESH:D012400" +MONDO:0007163 "ICD10CM:G11.8" MONDO:0007163 "SCTID:420932006" -MONDO:0007163 "ICD10:G11.8" MONDO:0007163 "Orphanet:97" MONDO:0007163 "GARD:0009602" MONDO:0007163 "DOID:0050990" MONDO:0007163 "MESH:C535506" MONDO:0007163 "UMLS:C1720416" MONDO:0007163 "OMIM:108500" -MONDO:0004777 "ICD10:J04.0" MONDO:0004777 "SCTID:6655004" MONDO:0004777 "ICD9:464.0" +MONDO:0004777 "ICD10CM:J04.0" MONDO:0004777 "DOID:9396" MONDO:0004777 "NCIT:C26688" MONDO:0004777 "ICD9:464.01" @@ -22140,15 +21614,14 @@ MONDO:0004777 "UMLS:C0001327" MONDO:0004777 "ICD9:464.00" MONDO:0010188 "OMIM:277460" MONDO:0010188 "ICD9:334.3" -MONDO:0010188 "ICD10:G11.1" MONDO:0010188 "ICD9:269.1" MONDO:0010188 "MedDRA:10047631" MONDO:0010188 "MESH:C535393" MONDO:0010188 "DOID:0090028" MONDO:0010188 "GARD:0008595" +MONDO:0010188 "ICD10CM:G11.1" MONDO:0010188 "SCTID:702442008" MONDO:0010188 "Orphanet:96" -MONDO:0005851 "ICD10:G61.0" MONDO:0005851 "MedDRA:10049567" MONDO:0005851 "UMLS:C0393799" MONDO:0005851 "MESH:D019846" @@ -22158,47 +21631,49 @@ MONDO:0005851 "GARD:0003668" MONDO:0005851 "DOID:12889" MONDO:0005851 "EFO:0007371" MONDO:0005851 "Orphanet:98919" +MONDO:0005851 "ICD10CM:G61.0" MONDO:0020253 "UMLS:CN207072" MONDO:0020253 "Orphanet:98683" MONDO:0013587 "Orphanet:2364" MONDO:0013587 "Orphanet:284435" MONDO:0013587 "MESH:C563641" MONDO:0013587 "OMIM:614128" -MONDO:0013587 "ICD10:E74.0" MONDO:0013587 "UMLS:C3279904" MONDO:0013587 "GARD:0003161" +MONDO:0013587 "ICD10CM:E74.0" MONDO:0033187 "Orphanet:478029" MONDO:0000693 "SCTID:83225003" MONDO:0000693 "DOID:0060166" MONDO:0000693 "ICD9:296.89" MONDO:0022891 "GARD:0001598" -MONDO:0018787 "Orphanet:477754" -MONDO:0018787 "UMLS:CN776941" MONDO:0005381 "ICD9:731.8" +MONDO:0005381 "ICD10CM:M86-M90" MONDO:0005381 "EFO:0004260" MONDO:0005381 "SCTID:76069003" MONDO:0005381 "UMLS:CN204768" MONDO:0005381 "ICD9:733.99" -MONDO:0005381 "ICD10:M89.9" MONDO:0005381 "MESH:D001847" MONDO:0005381 "DOID:0080001" +MONDO:0005381 "ICD10CM:M80-M85" MONDO:0005381 "UMLS:C0005940" -MONDO:0017229 "ICD10:Q93.5" MONDO:0017229 "Orphanet:280325" MONDO:0017229 "UMLS:CN202714" +MONDO:0017229 "ICD10CM:Q93.5" MONDO:0016601 "Orphanet:247573" +MONDO:0016601 "ICD10CM:E72.2" MONDO:0016601 "UMLS:CN201794" -MONDO:0016601 "ICD10:E72.2" MONDO:0012627 "MESH:C567002" MONDO:0012627 "Orphanet:64280" MONDO:0012627 "OMIM:611136" MONDO:0012627 "DOID:0111314" MONDO:0012627 "Orphanet:307" +MONDO:0018787 "Orphanet:477754" +MONDO:0018787 "UMLS:CN776941" MONDO:0007234 "MESH:C566188" MONDO:0007234 "UMLS:C1862071" MONDO:0007234 "OMIM:113610" +MONDO:0010375 "ICD10CM:G25.8" MONDO:0010375 "UMLS:C1845102" -MONDO:0010375 "ICD10:G25.8" MONDO:0010375 "MESH:C564474" MONDO:0010375 "OMIM:300607" MONDO:0010375 "DOID:0080215" @@ -22206,10 +21681,9 @@ MONDO:0010375 "Orphanet:163985" MONDO:0014191 "DOID:0060679" MONDO:0014191 "Orphanet:3286" MONDO:0014191 "UMLS:C3809536" -MONDO:0014191 "ICD10:I47.2" MONDO:0014191 "OMIM:615441" -MONDO:0020440 "ICD10:Q26.1" MONDO:0020440 "Orphanet:99109" +MONDO:0020440 "ICD10CM:Q26.1" MONDO:0002872 "DOID:4085" MONDO:0002872 "MESH:D014328" MONDO:0002872 "UMLS:C0041182" @@ -22218,9 +21692,9 @@ MONDO:0011826 "UMLS:C1846284" MONDO:0011826 "Orphanet:361" MONDO:0011826 "OMIM:607398" MONDO:0011826 "NCIT:C123728" -MONDO:0014273 "ICD10:Q87.8" MONDO:0014273 "UMLS:C3810080" MONDO:0014273 "Orphanet:397951" +MONDO:0014273 "ICD10CM:Q87.8" MONDO:0014273 "OMIM:615599" HP:0100659 "UMLS:C4022001" MONDO:0044204 "OMIM:260400" @@ -22238,12 +21712,11 @@ MONDO:0019203 "ICD9:516.33" MONDO:0019203 "Orphanet:79126" MONDO:0019203 "GARD:0012835" MONDO:0019203 "MedDRA:10066728" -MONDO:0019203 "ICD10:J84.1" MONDO:0019203 "UMLS:C1279945" MONDO:0019203 "SCTID:236302005" MONDO:0019203 "OMIM:178500" MONDO:0019203 "NCIT:C35806" -MONDO:0019203 "ICD10:J84.114" +MONDO:0019203 "ICD10CM:J84.1" MONDO:0019203 "DOID:2800" NCBITaxon:523103 "GC_ID:1" MONDO:0000302 "UMLS:C0343965" @@ -22251,10 +21724,8 @@ MONDO:0000302 "DOID:0050278" MONDO:0000302 "SCTID:4921002" MONDO:0000302 "MEDGEN:575966" MONDO:0001860 "DOID:14026" -MONDO:0001860 "ICD10:D52.9" MONDO:0001860 "ICD9:281.2" MONDO:0001860 "UMLS:C0151482" -MONDO:0001860 "ICD10:D52" MONDO:0001860 "SCTID:85649008" NCBITaxon:213849 "PMID:16403855" NCBITaxon:213849 "GC_ID:11" @@ -22278,9 +21749,9 @@ MONDO:0001743 "UMLS:C1335339" MONDO:0007646 "SCTID:711406009" MONDO:0007646 "Orphanet:324442" MONDO:0007646 "GARD:0012353" +MONDO:0007646 "ICD10CM:G60.0" MONDO:0007646 "UMLS:CN074193" MONDO:0007646 "OMIM:137200" -MONDO:0007646 "ICD10:G60.0" MONDO:0007646 "DOID:0050526" MONDO:0003465 "NCIT:C6533" MONDO:0003465 "DOID:5484" @@ -22307,28 +21778,27 @@ MONDO:0006841 "EFO:1001026" MONDO:0020032 "Orphanet:98058" MONDO:0020032 "UMLS:CN206957" NCBITaxon:229219 "GC_ID:1" -MONDO:0014577 "Orphanet:474" -MONDO:0014577 "ICD10:Q77.2" -MONDO:0014577 "OMIM:616300" -MONDO:0014577 "UMLS:C4225378" -MONDO:0014577 "DOID:0110093" MONDO:8000006 "MESH:C536697" -MONDO:8000006 "ICD10:D81.8" MONDO:8000006 "SCTID:234571003" +MONDO:8000006 "ICD10CM:D81.8" MONDO:8000006 "DOID:0060591" MONDO:8000006 "GARD:0009297" MONDO:8000006 "OMIM:193670" MONDO:8000006 "Orphanet:51636" MONDO:8000006 "UMLS:C0472817" +MONDO:0014577 "Orphanet:474" +MONDO:0014577 "OMIM:616300" +MONDO:0014577 "UMLS:C4225378" +MONDO:0014577 "DOID:0110093" MONDO:0032865 "OMIM:618674" -MONDO:0015455 "ICD10:A54.3+" +MONDO:0015455 "ICD10EXP:A54.3+" +MONDO:0015455 "ICD10EXP:H13.1*" MONDO:0015455 "SCTID:231858009" +MONDO:0015455 "ICD10CM:A54.31" MONDO:0015455 "NCIT:C116816" -MONDO:0015455 "ICD10:H13.1*" -MONDO:0015455 "ICD10:A54.31" MONDO:0015455 "GARD:0002546" MONDO:0015455 "Orphanet:1482" -MONDO:0000984 "ICD10:D56" +MONDO:0000984 "ICD10CM:D56" MONDO:0000984 "ICD9:282.4" MONDO:0000984 "ICD9:282.49" MONDO:0000984 "ICD9:282.40" @@ -22336,7 +21806,6 @@ MONDO:0000984 "DOID:10241" MONDO:0000984 "EFO:1001996" MONDO:0000984 "NCIT:C35069" MONDO:0000984 "SCTID:40108008" -MONDO:0000984 "ICD10:D56.9" MONDO:0000984 "GARD:0007756" MONDO:0000984 "UMLS:C0039730" MONDO:0000984 "MESH:D013789" @@ -22347,7 +21816,7 @@ MONDO:0006887 "EFO:1001084" MONDO:0006887 "SCTID:280483007" MONDO:0019197 "Orphanet:79097" MONDO:0019197 "SCTID:717276003" -MONDO:0019197 "ICD10:G40.3" +MONDO:0019197 "ICD10CM:G40.3" MONDO:0019197 "UMLS:CN205780" HP:0000071 "UMLS:C0521618" HP:0000071 "SNOMEDCT_US:95574003" @@ -22359,10 +21828,10 @@ MONDO:0002325 "MESH:D014077" MONDO:0002325 "ICD9:521.3" MONDO:0002325 "ICD9:521.35" MONDO:0002325 "SCTID:82212003" -MONDO:0002325 "ICD10:K03.2" MONDO:0002325 "ICD9:521.30" MONDO:0002325 "DOID:2498" MONDO:0002325 "ICD9:521.34" +MONDO:0028226 "Orphanet:439849" MONDO:0022323 "UMLS:C2930873" MONDO:0022323 "GARD:0008635" MONDO:0022323 "MESH:C535305" @@ -22370,7 +21839,6 @@ MONDO:0006067 "EFO:1000065" MONDO:0006067 "DOID:3703" MONDO:0006067 "NCIT:C5537" MONDO:0006067 "UMLS:C1335513" -MONDO:0028226 "Orphanet:439849" MONDO:0017634 "SCTID:267619000" MONDO:0017634 "Orphanet:306648" MONDO:0017634 "UMLS:C0339317" @@ -22398,21 +21866,21 @@ MONDO:0019576 "ICD9:448.9" MONDO:0019576 "SCTID:8214000" MONDO:0019576 "MedDRA:10043192" MONDO:0019576 "UMLS:C0263402" -MONDO:0019576 "ICD10:Q82.2" +MONDO:0019576 "ICD10CM:Q82.2" MONDO:0019576 "Orphanet:90389" MONDO:0015642 "Orphanet:166311" MONDO:0024502 "UMLS:C3273115" MONDO:0024502 "NCIT:C96917" MONDO:0018379 "Orphanet:399302" -MONDO:0018379 "ICD10:M87.8" +MONDO:0018379 "ICD10CM:M87.8" MONDO:0001566 "ICD9:275.42" +MONDO:0001566 "ICD10CM:E83.52" MONDO:0001566 "MESH:D006934" MONDO:0001566 "NCIT:C3112" MONDO:0001566 "UMLS:C0020437" MONDO:0001566 "SCTID:66931009" MONDO:0001566 "DOID:12678" MONDO:0001566 "HP:0003072" -MONDO:0001566 "ICD10:E83.52" MONDO:0007469 "OMIM:126500" MONDO:0007469 "MESH:C565090" MONDO:0007469 "GARD:0009672" @@ -22423,8 +21891,8 @@ MONDO:0010448 "Orphanet:280679" MONDO:0010448 "UMLS:C3151857" MONDO:0010448 "OMIM:300845" MONDO:0017164 "UMLS:CN202586" +MONDO:0017164 "ICD10CM:P55.8" MONDO:0017164 "Orphanet:275944" -MONDO:0017164 "ICD10:P55.8" MONDO:0002512 "DOID:3112" MONDO:0002512 "ICDO:8260/3" MONDO:0002512 "UMLS:C0001420" @@ -22446,26 +21914,24 @@ MONDO:0010225 "UMLS:C4305530" MONDO:0010225 "SCTID:717789008" MONDO:0010225 "OMIM:300554" MONDO:0010225 "Orphanet:1652" +MONDO:0010225 "ICD10CM:N25.8" MONDO:0010225 "OMIM:310468" -MONDO:0010225 "ICD10:N25.8" MONDO:0010225 "Orphanet:93622" MONDO:0010225 "UMLS:CN206679" MONDO:0023609 "UMLS:C2931385" MONDO:0023609 "GARD:0000171" MONDO:0023609 "MESH:C536997" MONDO:0019763 "UMLS:CN206698" -MONDO:0019763 "ICD10:Q32.1" MONDO:0019763 "Orphanet:93940" +MONDO:0019763 "ICD10CM:Q32.1" MONDO:0019763 "OMIM:215800" MONDO:0002170 "DOID:1999" -MONDO:0002170 "ICD10:H68.029" -MONDO:0002170 "ICD10:H68.02" MONDO:0002170 "SCTID:194269002" MONDO:0002170 "UMLS:C0155430" MONDO:0002170 "ICD9:381.52" MONDO:0018566 "Orphanet:435804" +MONDO:0018566 "ICD10CM:M89.8" MONDO:0018566 "UMLS:CN237575" -MONDO:0018566 "ICD10:M89.8" MONDO:0000554 "NCIT:C127907" MONDO:0000554 "UMLS:C4289591" MONDO:0000554 "ONCOTREE:ECAD" @@ -22473,7 +21939,6 @@ MONDO:0000554 "UMLS:C1263762" MONDO:0000554 "SCTID:123842006" MONDO:0000554 "DOID:0050940" MONDO:0009443 "Orphanet:457" -MONDO:0009443 "ICD10:Q80.4" MONDO:0009443 "GARD:0006568" MONDO:0009443 "OMIM:242500" MONDO:0009443 "NCIT:C98934" @@ -22489,7 +21954,7 @@ MONDO:0009833 "DOID:0080023" MONDO:0009833 "OMIMPS:260400" MONDO:0009833 "DOID:0060479" MONDO:0009833 "GARD:0004863" -MONDO:0009833 "ICD10:D61.0" +MONDO:0009833 "ICD10CM:D61.0" MONDO:0009833 "OMIM:260400" MONDO:0009833 "SCTID:89454001" MONDO:0014052 "Orphanet:98914" @@ -22502,7 +21967,7 @@ MONDO:0010540 "MESH:C563065" MONDO:0010540 "Orphanet:1867" MONDO:0010540 "OMIM:302000" MONDO:0010540 "GARD:0001038" -MONDO:0010540 "ICD10:Q81.8" +MONDO:0010540 "ICD10CM:Q81.8" CL:0002183 "FMA:62953" MONDO:0010917 "MESH:C535938" MONDO:0010917 "GARD:0006048" @@ -22516,8 +21981,8 @@ MONDO:0007898 "MESH:C563626" MONDO:0007898 "OMIM:151500" MONDO:0007898 "UMLS:C1835405" MONDO:0019984 "UMLS:CN206914" -MONDO:0019984 "ICD10:Q63.8" MONDO:0019984 "Orphanet:97367" +MONDO:0019984 "ICD10CM:Q63.8" MONDO:0010070 "MESH:C537099" MONDO:0010070 "OMIM:271530" MONDO:0010070 "UMLS:C1849055" @@ -22536,10 +22001,9 @@ MONDO:0001286 "UMLS:C0015310" MONDO:0001286 "NCIT:C34601" MONDO:0001286 "SCTID:399252000" MONDO:0001286 "ICD9:378.1" -MONDO:0001286 "ICD10:H50.10" MONDO:0001286 "MESH:D005099" MONDO:0001286 "DOID:1143" -MONDO:0001286 "ICD10:H50.1" +MONDO:0001286 "ICD10CM:H50.1" MONDO:0001286 "ICD9:378.10" MONDO:0020284 "Orphanet:98716" MONDO:0044070 "UMLS:C0877445" @@ -22549,20 +22013,17 @@ MONDO:0044070 "MESH:D058387" MONDO:0001462 "ICD9:153.2" MONDO:0001462 "SCTID:363409003" MONDO:0001462 "DOID:12190" -MONDO:0001462 "ICD10:C18.6" MONDO:0001462 "UMLS:C0153435" MONDO:0003315 "SCTID:92582009" MONDO:0003315 "UMLS:C0346191" MONDO:0003315 "DOID:5172" +MONDO:0003315 "ICD10CM:D07.0" MONDO:0003315 "ICD9:233.2" -MONDO:0003315 "ICD10:D07.0" MONDO:0001041 "ICD9:521.02" MONDO:0001041 "UMLS:C0266846" MONDO:0001041 "DOID:10461" MONDO:0001041 "SCTID:442551007" -MONDO:0001041 "ICD10:K02.1" MONDO:0017437 "SCTID:205306000" -MONDO:0017437 "ICD10:Q71.0" MONDO:0017437 "HP:0009812" MONDO:0017437 "Orphanet:294967" MONDO:0023660 "OMIM:619363" @@ -22571,17 +22032,17 @@ MONDO:0012398 "MESH:C566483" MONDO:0012398 "GARD:0010648" MONDO:0012398 "UMLS:C1864900" MONDO:0012398 "Orphanet:49382" -MONDO:0019867 "ICD10:Q92.1" MONDO:0019867 "MESH:C537940" MONDO:0019867 "Orphanet:96061" -MONDO:0019867 "SCTID:717335009" MONDO:0019867 "GARD:0005359" +MONDO:0019867 "SCTID:717335009" +MONDO:0019867 "ICD10CM:Q92.1" MONDO:0019867 "MedDRA:10053916" +MONDO:0013301 "ICD10CM:E25.8" MONDO:0013301 "UMLS:C1960539" MONDO:0013301 "MESH:C537436" MONDO:0013301 "OMIM:613546" MONDO:0013301 "Orphanet:91" -MONDO:0013301 "ICD10:E25.8" MONDO:0013301 "GARD:0000365" MONDO:0013301 "NCIT:C120144" MONDO:0003729 "DOID:6003" @@ -22593,11 +22054,11 @@ HP:0001252 "SNOMEDCT_US:398152000" HP:0001252 "UMLS:C0026827" HP:0001252 "MSH:D009123" HP:0001252 "SNOMEDCT_US:398151007" +MONDO:0019008 "ICD10CM:K83.1" MONDO:0019008 "OMIM:605479" MONDO:0019008 "OMIMPS:243300" MONDO:0019008 "DOID:0070230" MONDO:0019008 "OMIM:243300" -MONDO:0019008 "ICD10:K83.1" MONDO:0019008 "GARD:0012185" MONDO:0019008 "SCTID:31155007" MONDO:0019008 "Orphanet:65682" @@ -22620,16 +22081,16 @@ MONDO:0014742 "UMLS:C4225238" MONDO:0019366 "UMLS:C2931872" MONDO:0019366 "OMIM:269920" MONDO:0019366 "OMIM:604369" +MONDO:0019366 "ICD10CM:E77.8" MONDO:0019366 "UMLS:CN206051" MONDO:0019366 "MedDRA:10067531" -MONDO:0019366 "ICD10:E77.8" MONDO:0019366 "Orphanet:834" MONDO:0019366 "GARD:0010870" MONDO:0019366 "MESH:C538523" MONDO:0019366 "MedDRA:10067529" MONDO:0018169 "OMIM:120430" MONDO:0018169 "GARD:0013354" -MONDO:0018169 "ICD10:Q14.2" +MONDO:0018169 "ICD10CM:Q14.2" MONDO:0018169 "UMLS:C0549307" MONDO:0018169 "Orphanet:35737" MONDO:0018169 "MedDRA:10027974" @@ -22639,9 +22100,8 @@ MONDO:0004662 "ICD9:121.6" MONDO:0004662 "NCIT:C128389" MONDO:0004662 "UMLS:C0152071" MONDO:0004662 "DOID:882" -MONDO:0004662 "ICD10:B66.8" MONDO:0004662 "SCTID:22905009" -MONDO:0016857 "ICD10:Q10.3" +MONDO:0016857 "ICD10CM:Q10.3" MONDO:0016857 "OMIM:110100" MONDO:0016857 "Orphanet:261559" MONDO:0016857 "UMLS:CN202200" @@ -22651,8 +22111,8 @@ MONDO:0011629 "SCTID:725028009" MONDO:0011629 "MESH:C565264" MONDO:0011629 "Orphanet:79330" MONDO:0011629 "GARD:0010767" -MONDO:0011629 "ICD10:E77.8" MONDO:0011629 "UMLS:C1853736" +MONDO:0011629 "ICD10CM:E77.8" MONDO:0000333 "SCTID:4359001" MONDO:0000333 "ICD9:090.2" MONDO:0000333 "DOID:0050488" @@ -22662,11 +22122,10 @@ MONDO:0007319 "OMIM:600668" MONDO:0007319 "MESH:C563162" MONDO:0007319 "UMLS:CN199517" MONDO:0007319 "GARD:0001292" -MONDO:0007319 "ICD10:M11.1" MONDO:0007319 "OMIM:118600" MONDO:0013730 "ICD9:279.50" MONDO:0013730 "MESH:D006086" -MONDO:0013730 "ICD10:T86.0" +MONDO:0013730 "ICD10CM:T86.0" MONDO:0013730 "Orphanet:39812" MONDO:0013730 "SCTID:234646005" MONDO:0013730 "UMLS:C0018133" @@ -22676,7 +22135,7 @@ MONDO:0013730 "OMIM:614395" MONDO:0015150 "UMLS:C0393556" MONDO:0015150 "SCTID:230261006" MONDO:0015150 "UMLS:CN197491" -MONDO:0015150 "ICD10:G11.4" +MONDO:0015150 "ICD10CM:G11.4" MONDO:0015150 "Orphanet:102013" MONDO:0000789 "DOID:0060514" NCBITaxon:85819 "GC_ID:1" @@ -22702,9 +22161,9 @@ MONDO:0008210 "DOID:0060866" MONDO:0008210 "Orphanet:99001" MONDO:0017439 "Orphanet:294971" MONDO:0017439 "GARD:0005148" +MONDO:0017439 "ICD10CM:Q73.0" MONDO:0017439 "MESH:C536498" MONDO:0017439 "SCTID:702313004" -MONDO:0017439 "ICD10:Q73.0" MONDO:0017439 "HP:0003057" NCBITaxon:6180 "GC_ID:1" HP:0025580 "Fyler:1770" @@ -22729,15 +22188,15 @@ MONDO:0018731 "Orphanet:459787" MONDO:0009612 "DOID:0060740" MONDO:0009612 "Orphanet:79312" MONDO:0009612 "Orphanet:27" +MONDO:0009612 "ICD10CM:E71.1" MONDO:0009612 "GARD:0003586" -MONDO:0009612 "ICD10:E71.1" MONDO:0009612 "OMIM:251000" MONDO:0009612 "Orphanet:289916" MONDO:0009612 "UMLS:C1855114" MONDO:0009612 "NCIT:C148366" MONDO:0017626 "UMLS:CN227164" MONDO:0017626 "Orphanet:306522" -MONDO:0017626 "ICD10:E83.4" +MONDO:0017626 "ICD10CM:E83.4" HP:0002242 "SNOMEDCT_US:85919009" HP:0002242 "UMLS:C0021831" HP:0002242 "MSH:D007410" @@ -22754,8 +22213,8 @@ MONDO:0010048 "MESH:C564810" MONDO:0010048 "UMLS:C1849114" MONDO:0011122 "ICD9:278.0" MONDO:0011122 "SCTID:414916001" +MONDO:0011122 "OMIM:601665" MONDO:0011122 "ICD9:278.00" -MONDO:0011122 "ICD10:E66.9" MONDO:0011122 "DOID:9970" MONDO:0011122 "Orphanet:71529" MONDO:0011122 "Orphanet:521399" @@ -22765,7 +22224,6 @@ MONDO:0011122 "NIFSTD:nlx_dys_20090302" MONDO:0011122 "HP:0001513" MONDO:0011122 "NCIT:C3283" MONDO:0015844 "Orphanet:180142" -MONDO:0015844 "ICD10:Q51.0" MONDO:0034121 "OMIM:618321" MONDO:0034121 "Orphanet:555402" MONDO:0010384 "Orphanet:440" @@ -22773,8 +22231,8 @@ MONDO:0010384 "UMLS:C2678098" MONDO:0010384 "MESH:C567482" MONDO:0010384 "OMIM:300633" MONDO:0022883 "GARD:0001570" +MONDO:0017847 "ICD10CM:G11.8" MONDO:0017847 "UMLS:CN229112" -MONDO:0017847 "ICD10:G11.8" MONDO:0017847 "Orphanet:316240" MONDO:0005524 "NCIT:C6938" MONDO:0005524 "ONCOTREE:AECA" @@ -22796,7 +22254,6 @@ MONDO:0008900 "GARD:0001064" MONDO:0008900 "Orphanet:1321" MONDO:0008900 "MESH:C537974" MONDO:0008900 "OMIM:211930" -MONDO:0008900 "ICD10:Q87.2" MONDO:0012563 "UMLS:C1835819" MONDO:0012563 "Orphanet:2162" MONDO:0012563 "OMIM:610829" @@ -22811,7 +22268,7 @@ MONDO:0010571 "DOID:0111784" MONDO:0010571 "MESH:C538089" MONDO:0010571 "SCTID:42432003" MONDO:0010571 "Orphanet:669" -MONDO:0010571 "ICD10:Q87.0" +MONDO:0010571 "ICD10CM:Q87.0" MONDO:0010571 "Orphanet:90652" MONDO:0010571 "ICD9:759.89" MONDO:0010571 "GARD:0005802" @@ -22820,7 +22277,6 @@ MONDO:0018019 "SCTID:38342005" MONDO:0018019 "ICD9:984.8" MONDO:0018019 "Orphanet:330015" MONDO:0018019 "ICD9:984.9" -MONDO:0018019 "ICD10:T56.0" MONDO:0018019 "MESH:D007855" MONDO:0003181 "UMLS:C1334439" MONDO:0003181 "ONCOTREE:LUACC" @@ -22836,16 +22292,15 @@ MONDO:0013965 "OMIM:614915" MONDO:0013965 "UMLS:C3554046" MONDO:0021548 "OMIM:616509" MONDO:0021548 "Orphanet:91492" +MONDO:0021548 "ICD10CM:Q12.0" MONDO:0021548 "GARD:0001159" MONDO:0021548 "OMIM:601547" -MONDO:0021548 "ICD10:Q12.0" MONDO:0021548 "Orphanet:98994" MONDO:0033565 "OMIM:619011" MONDO:0044742 "Orphanet:512103" MONDO:0013145 "UMLS:C2751089" MONDO:0013145 "OMIM:613119" MONDO:0013145 "Orphanet:130" -MONDO:0013145 "ICD10:I49.8" MONDO:0013145 "MESH:C567735" MONDO:0013145 "DOID:0110223" MONDO:0003025 "DOID:4512" @@ -22857,11 +22312,11 @@ MONDO:0006401 "UMLS:C1335894" MONDO:0006401 "NCIT:C35737" MONDO:0012953 "OMIM:612591" HP:0012332 "UMLS:C4022952" -MONDO:0010792 "ICD10:G71.3" MONDO:0010792 "SCTID:766251006" MONDO:0010792 "UMLS:C1838876" MONDO:0010792 "Orphanet:254857" MONDO:0010792 "MESH:C564017" +MONDO:0010792 "ICD10CM:G71.3" MONDO:0010792 "OMIM:551000" MONDO:0022989 "GARD:0001870" MONDO:0019061 "Orphanet:68415" @@ -22874,18 +22329,16 @@ MONDO:0013332 "UMLS:C3150890" MONDO:0013332 "OMIM:613627" MONDO:0013332 "SCTID:719162001" MONDO:0016552 "Orphanet:238654" -MONDO:0016552 "ICD10:Q62.2" +MONDO:0016552 "ICD10CM:Q62.2" MONDO:0008516 "Orphanet:93406" MONDO:0008516 "SCTID:719159004" -MONDO:0008516 "ICD10:Q70.2" MONDO:0008516 "GARD:0005089" MONDO:0008516 "OMIM:186300" MONDO:0008516 "MESH:C538155" -MONDO:0008516 "ICD10:Q70.0" NCBITaxon:47570 "GC_ID:1" MONDO:0007842 "MESH:C535884" +MONDO:0007842 "ICD10CM:Q79.6" MONDO:0007842 "Orphanet:2295" -MONDO:0007842 "ICD10:Q79.6" MONDO:0007842 "OMIM:147900" MONDO:0007842 "UMLS:C0268349" MONDO:0007842 "GARD:0003054" @@ -22897,9 +22350,9 @@ MONDO:0015447 "EFO:1002017" MONDO:0015447 "OMIM:607464" MONDO:0015447 "UMLS:C0238463" MONDO:0015447 "NCIT:C7153" -MONDO:0015447 "ICD10:C73" MONDO:0015447 "DOID:0080525" MONDO:0015447 "UMLS:C1337013" +MONDO:0015447 "ICD10CM:C73" MONDO:0015447 "OMIM:188550" MONDO:0015447 "ONCOTREE:WDTC" MONDO:0015447 "Orphanet:146" @@ -22917,11 +22370,9 @@ MONDO:0002317 "ICD9:386.2" MONDO:0002317 "SCTID:38403006" MONDO:0002317 "UMLS:C0155503" MONDO:0002317 "DOID:2479" -MONDO:0002317 "ICD10:H81.49" -MONDO:0002317 "ICD10:H81.4" -MONDO:0019906 "ICD10:Q93.2" MONDO:0019906 "Orphanet:96175" MONDO:0019906 "SCTID:111310003" +MONDO:0019906 "ICD10CM:Q93.2" MONDO:0019906 "UMLS:C0265444" MONDO:0019906 "EFO:0002849" MONDO:0019906 "ICD9:758.89" @@ -22935,17 +22386,16 @@ MONDO:0011374 "NCIT:C128114" MONDO:0011374 "DOID:0090105" MONDO:0011374 "UMLS:C1863512" MONDO:0011374 "OMIM:603813" -MONDO:0011374 "ICD10:E78.0" MONDO:0011374 "MESH:C566331" MONDO:0011374 "Orphanet:391665" MONDO:0023569 "GARD:0003139" MONDO:0023569 "UMLS:C2931512" MONDO:0023569 "MESH:C537508" MONDO:0017993 "Orphanet:329217" -MONDO:0017993 "ICD10:I67.6" +MONDO:0017993 "ICD10CM:I67.6" NCBITaxon:9347 "GC_ID:1" +MONDO:0016888 "ICD10CM:Q93.5" MONDO:0016888 "Orphanet:261902" -MONDO:0016888 "ICD10:Q93.5" MONDO:0017134 "GARD:0004051" MONDO:0017134 "UMLS:CN202534" MONDO:0017134 "Orphanet:2722" @@ -22957,11 +22407,11 @@ MONDO:0016717 "UMLS:C0085138" MONDO:0006928 "Orphanet:329211" MONDO:0006928 "MedDRA:10057896" MONDO:0006928 "DOID:9719" -MONDO:0006928 "ICD10:H35.2" MONDO:0006928 "EFO:1001129" MONDO:0006928 "MESH:D018630" MONDO:0006928 "SCTID:232016005" MONDO:0006928 "UMLS:C0242852" +MONDO:0006928 "ICD10CM:H35.2" MONDO:0006928 "OMIM:193235" MONDO:0006928 "ICD9:362.29" MONDO:0013817 "UMLS:C3281288" @@ -23004,8 +22454,8 @@ MONDO:0022538 "NCIT:C3881" MONDO:0022538 "SCTID:32236000" MONDO:0022538 "UMLS:C0239737" MONDO:0022538 "ICD9:528.6" +MONDO:0017492 "ICD10CM:Q72.6" MONDO:0017492 "Orphanet:295081" -MONDO:0017492 "ICD10:Q72.6" HP:0001974 "MSH:D007964" HP:0001974 "UMLS:C0023518" HP:0001974 "SNOMEDCT_US:111583006" @@ -23013,11 +22463,10 @@ MONDO:0018575 "Orphanet:436182" MONDO:0018575 "OMIM:616541" MONDO:0018575 "UMLS:CN237592" MONDO:0018575 "OMIM:617253" -MONDO:0018575 "ICD10:Q87.1" +MONDO:0018575 "ICD10CM:Q87.1" MONDO:0017321 "UMLS:C2931483" MONDO:0017321 "Orphanet:2890" MONDO:0005916 "EFO:0007440" -MONDO:0005916 "ICD10:O43.21" MONDO:0005916 "NCIT:C26856" MONDO:0005916 "SCTID:70129008" MONDO:0005916 "DOID:4744" @@ -23029,9 +22478,7 @@ MONDO:0006059 "DOID:5515" MONDO:0006059 "UMLS:C0280333" MONDO:0004747 "SCTID:80281008" MONDO:0004747 "DOID:9296" -MONDO:0004747 "ICD10:Q36" MONDO:0004747 "EFO:0003959" -MONDO:0004747 "ICD10:Q36.9" MONDO:0004747 "NCIT:C87175" MONDO:0004747 "ICD9:749.1" MONDO:0004747 "ICD9:749.10" @@ -23041,7 +22488,6 @@ MONDO:0004747 "MESH:D002971" MONDO:0007172 "UMLS:C1862389" MONDO:0007172 "Orphanet:1478" MONDO:0007172 "OMIM:108800" -MONDO:0007172 "ICD10:Q21.1" MONDO:0007172 "DOID:0110106" MONDO:0024360 "SCTID:91441000119109" MONDO:0024360 "UMLS:C4075997" @@ -23051,8 +22497,8 @@ MONDO:0002703 "DOID:3607" MONDO:0009435 "MESH:C563067" MONDO:0009435 "SCTID:716096005" MONDO:0009435 "OMIM:241760" +MONDO:0009435 "ICD10CM:Q87.8" MONDO:0009435 "Orphanet:2261" -MONDO:0009435 "ICD10:Q87.8" MONDO:0009435 "GARD:0002928" MONDO:0013098 "SCTID:73415002" MONDO:0013098 "NCIT:C34664" @@ -23072,27 +22518,27 @@ MONDO:0011786 "DOID:4481" MONDO:0011786 "EFO:0005854" MONDO:0011786 "ICD9:477.8" NCBITaxon:43755 "GC_ID:1" -MONDO:0016090 "ICD10:E75.2" MONDO:0016090 "SCTID:41142009" MONDO:0016090 "Orphanet:206443" +MONDO:0016090 "ICD10CM:E75.2" MONDO:0016090 "UMLS:CN200855" -MONDO:0020089 "ICD10:E88.1" +NCBITaxon:36087 "GC_ID:1" MONDO:0020089 "MedDRA:10049287" MONDO:0020089 "Orphanet:98307" +MONDO:0020089 "ICD10CM:E88.1" MONDO:0020089 "UMLS:C0877192" HP:0010936 "UMLS:C4023640" +MONDO:0015363 "ICD10CM:G12.2" MONDO:0015363 "UMLS:CN228931" MONDO:0015363 "DOID:0111197" -MONDO:0015363 "ICD10:G12.2" MONDO:0015363 "Orphanet:140468" -NCBITaxon:36087 "GC_ID:1" -MONDO:0008697 "OMIM:200300" MONDO:0016005 "SCTID:715430001" -MONDO:0016005 "ICD10:Q86.8" MONDO:0016005 "Orphanet:1909" +MONDO:0016005 "ICD10CM:Q86.8" MONDO:0016005 "UMLS:C4275138" MONDO:0016005 "UMLS:CN200656" MONDO:0016005 "GARD:0002994" +MONDO:0008697 "OMIM:200300" MONDO:0009771 "UMLS:C1850332" MONDO:0009771 "Orphanet:2718" MONDO:0009771 "MESH:C564934" @@ -23100,48 +22546,48 @@ MONDO:0009771 "SCTID:722062004" MONDO:0009771 "OMIM:257960" NCBITaxon:29189 "GC_ID:1" NCBITaxon:33213 "GC_ID:1" -MONDO:0008119 "OMIM:164400" -MONDO:0008119 "UMLS:C0752120" MONDO:0008119 "DOID:0050954" -MONDO:0008119 "ICD10:G11.8" -MONDO:0008119 "SCTID:715748006" -MONDO:0008119 "Orphanet:98755" -MONDO:0008119 "NCIT:C129982" MONDO:0008119 "GARD:0004071" +MONDO:0008119 "ICD10CM:G11.8" +MONDO:0008119 "UMLS:C0752120" +MONDO:0008119 "NCIT:C129982" +MONDO:0008119 "Orphanet:98755" +MONDO:0008119 "OMIM:164400" +MONDO:0008119 "SCTID:715748006" NCBITaxon:49202 "GC_ID:1" MONDO:0016309 "UMLS:CN201115" MONDO:0016309 "Orphanet:216981" -MONDO:0016309 "ICD10:E75.2" +MONDO:0016309 "ICD10CM:E75.2" MONDO:0024477 "NCIT:C7103" MONDO:0024477 "UMLS:C1333976" MONDO:0018941 "Orphanet:591" MONDO:0018941 "UMLS:C2931766" -MONDO:0018941 "ICD10:B87.0" MONDO:0018941 "MESH:C538194" +MONDO:0018941 "ICD10CM:B87.0" MONDO:0018941 "GARD:0002418" MONDO:0008705 "MESH:C562645" MONDO:0008705 "OMIM:200950" -MONDO:0008705 "ICD10:E83.3" MONDO:0008705 "Orphanet:35121" MONDO:0008705 "ICD9:277.6" MONDO:0008705 "UMLS:C0268410" MONDO:0008705 "SCTID:57863006" +MONDO:0008705 "ICD10CM:E83.3" MONDO:0015246 "Orphanet:117573" MONDO:0015246 "UMLS:CN226645" MONDO:0012368 "UMLS:C1835922" MONDO:0012368 "GARD:0009741" MONDO:0012368 "EFO:1001981" MONDO:0012368 "SCTID:709282004" -MONDO:0012368 "ICD10:E72.8" MONDO:0012368 "OMIM:609924" MONDO:0012368 "Orphanet:137754" MONDO:0012368 "MESH:C538246" +MONDO:0012368 "ICD10CM:E72.8" MONDO:0012368 "ICD9:270.8" +MONDO:0000087 "ICD10CM:Q04.3" MONDO:0000087 "Orphanet:35981" MONDO:0000087 "UMLS:C0266464" MONDO:0000087 "MESH:D065706" MONDO:0000087 "SCTID:4945003" -MONDO:0000087 "ICD10:Q04.3" MONDO:0000087 "NCIT:C116936" MONDO:0000087 "GARD:0012271" MONDO:0007508 "OMIM:129400" @@ -23175,17 +22621,17 @@ MONDO:0006792 "MESH:D011694" MONDO:0006792 "SCTID:402852007" NCBITaxon:2732092 "GC_ID:1" MONDO:0008306 "DOID:0070029" +MONDO:0008306 "ICD10EXP:E85.4+" MONDO:0008306 "MESH:C538208" -MONDO:0008306 "ICD10:E85.4+" MONDO:0008306 "Orphanet:97345" -MONDO:0008306 "ICD10:I68.0*" MONDO:0008306 "UMLS:C1867773" MONDO:0008306 "OMIM:176500" +MONDO:0008306 "ICD10EXP:I68.0*" MONDO:0008306 "GARD:0008344" -MONDO:0014547 "ICD10:G71.3" MONDO:0014547 "OMIM:616239" MONDO:0014547 "DOID:0111485" MONDO:0014547 "EFO:0009034" +MONDO:0014547 "ICD10CM:G71.3" MONDO:0014547 "UMLS:C4015643" MONDO:0014547 "Orphanet:444458" NCBITaxon:140713 "GC_ID:1" @@ -23217,11 +22663,11 @@ MONDO:0002319 "ICD9:275.3" MONDO:0002319 "NCIT:C97095" MONDO:0002319 "DOID:2485" MONDO:0002319 "MESH:D010760" -MONDO:0002319 "ICD10:E83.3" +MONDO:0002319 "ICD10CM:E83.3" MONDO:0019908 "UMLS:CN035931" +MONDO:0019908 "ICD10CM:Q93.2" MONDO:0019908 "GARD:0001328" MONDO:0019908 "SCTID:763405000" -MONDO:0019908 "ICD10:Q93.2" MONDO:0019908 "MESH:C538035" MONDO:0019908 "Orphanet:96177" MONDO:0018178 "HP:0002593" @@ -23229,20 +22675,20 @@ MONDO:0018178 "GARD:0012331" MONDO:0018178 "SCTID:197260007" MONDO:0018178 "ICD9:457.1" MONDO:0018178 "MedDRA:10025213" -MONDO:0018178 "ICD10:I89.0" +MONDO:0018178 "ICD10CM:I89.0" MONDO:0018178 "Orphanet:36204" MONDO:0008289 "Orphanet:2940" MONDO:0008289 "OMIM:175780" -MONDO:0008289 "ICD10:I67.3" MONDO:0008289 "MESH:C531642" MONDO:0008289 "OMIM:607595" MONDO:0008289 "Orphanet:99810" MONDO:0008289 "UMLS:CN032791" MONDO:0008289 "MESH:C564372" MONDO:0008289 "DOID:0090125" +MONDO:0008289 "ICD10CM:I67.3" MONDO:0008289 "Orphanet:36383" MONDO:0011638 "UMLS:C1853578" -MONDO:0011638 "ICD10:G23.0" +MONDO:0011638 "ICD10CM:G23.0" MONDO:0011638 "DOID:0110737" MONDO:0011638 "GARD:0010686" MONDO:0011638 "Orphanet:157846" @@ -23257,7 +22703,7 @@ MONDO:0008172 "OMIM:167100" MONDO:0008172 "UMLS:C2674695" MONDO:0008172 "Orphanet:2796" MONDO:0020662 "NCIT:C5226" -MONDO:0300000 "http://orcid.org/0000-0001-9969-8610" +MONDO:0007937 "ICD10CM:E83.4" MONDO:0007937 "SCTID:725393000" MONDO:0007937 "DOID:0060885" MONDO:0007937 "OMIM:154020" @@ -23265,18 +22711,17 @@ MONDO:0007937 "UMLS:C4511005" MONDO:0007937 "Orphanet:34528" MONDO:0007937 "GARD:0003350" MONDO:0007937 "UMLS:C1835171" -MONDO:0007937 "ICD10:E83.4" MONDO:0007937 "MESH:C537152" MONDO:0026724 "OMIM:301025" MONDO:0005663 "MESH:D055010" MONDO:0005663 "EFO:0007165" -MONDO:0005663 "ICD10:M53.0" MONDO:0005663 "NCIT:C34411" MONDO:0005663 "UMLS:C2355645" MONDO:0005663 "DOID:6692" MONDO:0005663 "UMLS:C0376378" MONDO:0005663 "SCTID:17300000" MONDO:0005663 "ICD9:723.2" +MONDO:0005663 "ICD10CM:M53.0" MONDO:0012776 "OMIM:612005" MONDO:0019039 "Orphanet:68334" MONDO:0019039 "UMLS:CN227563" @@ -23284,16 +22729,16 @@ MONDO:0016396 "SCTID:718610008" MONDO:0016396 "GARD:0010704" MONDO:0016396 "UMLS:C1843504" MONDO:0016396 "OMIM:607596" -MONDO:0016396 "ICD10:Q04.3" +MONDO:0016396 "ICD10CM:Q04.3" MONDO:0016396 "Orphanet:2254" MONDO:0016396 "OMIM:616081" MONDO:0016396 "OMIM:614678" MONDO:0016396 "MESH:C548069" +MONDO:0010879 "ICD10CM:Q87.8" MONDO:0010879 "UMLS:C1838180" MONDO:0010879 "OMIM:600373" MONDO:0010879 "GARD:0001418" MONDO:0010879 "Orphanet:1458" -MONDO:0010879 "ICD10:Q87.8" MONDO:0010879 "NCIT:C126744" MONDO:0010879 "MESH:C536434" MONDO:0010879 "DOID:0111274" @@ -23308,9 +22753,9 @@ MONDO:0003923 "NCIT:C6836" MONDO:0003923 "DOID:6559" MONDO:0009109 "GARD:0001853" MONDO:0009109 "GARD:0003335" +MONDO:0009109 "ICD10CM:E72.0" MONDO:0009109 "NCIT:C121563" MONDO:0009109 "DOID:0060439" -MONDO:0009109 "ICD10:E72.0" MONDO:0009109 "MedDRA:10058300" MONDO:0009109 "Orphanet:470" MONDO:0009109 "MESH:C562687" @@ -23325,20 +22770,20 @@ MONDO:0014022 "DOID:0111239" MONDO:0010994 "UMLS:C1832800" MONDO:0010994 "MESH:C537556" MONDO:0010994 "SCTID:715479009" -MONDO:0010994 "ICD10:Q77.8" MONDO:0010994 "Orphanet:2641" +MONDO:0010994 "ICD10CM:Q77.8" MONDO:0010994 "GARD:0003642" MONDO:0010994 "OMIM:601096" MONDO:0017798 "Orphanet:314432" MONDO:0017798 "UMLS:CN203757" -MONDO:0017798 "ICD10:K43.6" +MONDO:0017798 "ICD10CM:K43.6" MONDO:0002705 "DOID:3609" MONDO:0002705 "NCIT:C40354" MONDO:0002705 "UMLS:C1511318" MONDO:0016583 "Orphanet:2454" -MONDO:0016583 "ICD10:Q43.3" MONDO:0016583 "OMIM:193250" MONDO:0016583 "GARD:0005000" +MONDO:0016583 "ICD10CM:Q43.3" MONDO:0012147 "OMIM:608901" MONDO:0013358 "OMIM:613676" MONDO:0013358 "Orphanet:808" @@ -23346,7 +22791,7 @@ MONDO:0013358 "DOID:0070010" MONDO:0013358 "UMLS:C3888212" MONDO:0021577 "SCTID:278044006" MONDO:0021577 "UMLS:C0349665" -MONDO:0009621 "ICD10:Q87.8" +MONDO:0009621 "ICD10CM:Q87.8" MONDO:0009621 "GARD:0003610" MONDO:0009621 "OMIM:251250" MONDO:0009621 "SCTID:715462003" @@ -23361,7 +22806,6 @@ MONDO:0003277 "SCTID:443648003" MONDO:0025370 "MESH:D014565" MONDO:0025370 "EFO:0003863" MONDO:0010831 "Orphanet:3169" -MONDO:0010831 "ICD10:Q87.8" MONDO:0010831 "NCIT:C99054" MONDO:0010831 "UMLS:C0037205" MONDO:0010831 "GARD:0000215" @@ -23371,12 +22815,11 @@ MONDO:0010831 "GARD:0004751" MONDO:0010831 "SCTID:722493007" MONDO:0010831 "OMIM:600145" MONDO:0010831 "Orphanet:1768" +MONDO:0010831 "ICD10CM:Q87.8" MONDO:0001965 "UMLS:C0155090" MONDO:0001965 "ICD9:370.54" MONDO:0001965 "DOID:14444" MONDO:0001965 "SCTID:27886001" -MONDO:0001965 "ICD10:H16.33" -MONDO:0013263 "ICD10:H35.5" MONDO:0013263 "DOID:0110364" MONDO:0013263 "OMIM:613428" MONDO:0013263 "UMLS:C3150691" @@ -23384,9 +22827,9 @@ MONDO:0054698 "OMIM:256040" MONDO:0010189 "UMLS:C1848532" MONDO:0010189 "MESH:C564739" MONDO:0010189 "OMIM:277465" +MONDO:0019772 "ICD10CM:G24.8" MONDO:0019772 "MESH:D008538" MONDO:0019772 "DOID:3982" -MONDO:0019772 "ICD10:G24.8" MONDO:0019772 "Orphanet:93964" MONDO:0019772 "GARD:0007008" MONDO:0019772 "SCTID:230325003" @@ -23395,7 +22838,6 @@ MONDO:0010018 "UMLS:C1849259" MONDO:0010018 "MESH:C564824" MONDO:0010018 "OMIM:269630" MONDO:0014799 "UMLS:C4225182" -MONDO:0014799 "ICD10:Q12.0" MONDO:0014799 "DOID:0110262" MONDO:0014799 "OMIM:616851" MONDO:0008862 "Orphanet:6" @@ -23411,12 +22853,12 @@ MONDO:0005212 "OMIM:268210" MONDO:0005212 "SCTID:302847003" MONDO:0005212 "MedDRA:10039022" MONDO:0005212 "ICD9:171.9" -MONDO:0005212 "ICD10:C49.9" MONDO:0005212 "HP:0002859" MONDO:0005212 "ONCOTREE:RMS" MONDO:0005212 "DOID:3247" MONDO:0005212 "UMLS:C0035412" MONDO:0005212 "EFO:0002918" +MONDO:0005212 "ICD10CM:C49.9" MONDO:0005212 "NCIT:C3359" MONDO:0005212 "MESH:D012208" MONDO:0005212 "Orphanet:780" @@ -23426,35 +22868,33 @@ NCBITaxon:27479 "GC_ID:1" PO:0020003 "PO_GIT:464" PO:0020003 "PO_GIT:70" MONDO:0009279 "SCTID:45414006" +MONDO:0009279 "ICD10CM:E27.4" MONDO:0009279 "OMIM:231550" MONDO:0009279 "GARD:0000457" MONDO:0009279 "EFO:1001997" -MONDO:0009279 "ICD10:E27.4" MONDO:0009279 "ICD9:255.41" MONDO:0009279 "NCIT:C131005" MONDO:0009279 "Orphanet:869" MONDO:0009279 "MESH:C536008" MONDO:0009279 "OMIM:615510" MONDO:0009279 "DOID:0050602" +MONDO:0016602 "ICD10CM:E72.2" MONDO:0016602 "UMLS:C1997910" MONDO:0016602 "SCTID:429735007" MONDO:0016602 "Orphanet:247582" -MONDO:0016602 "ICD10:E72.2" MONDO:0012628 "OMIM:611139" MONDO:0000030 "OMIMPS:600513" MONDO:0024338 "NCIT:C7070" MONDO:0024338 "UMLS:C1334811" -MONDO:0020441 "ICD10:Q26.8" MONDO:0020441 "Orphanet:99110" +MONDO:0020441 "ICD10CM:Q26.8" MONDO:0011459 "MESH:C565776" MONDO:0011459 "OMIM:604400" MONDO:0011459 "UMLS:C1858379" MONDO:0011459 "DOID:0110074" MONDO:0011459 "Orphanet:217656" -MONDO:0011459 "ICD10:I42.8" MONDO:0005516 "UMLS:C0029422" MONDO:0005516 "OMIM:215050" -MONDO:0005516 "ICD10:Q78.9" MONDO:0005516 "MESH:D010009" MONDO:0005516 "GARD:0006051" MONDO:0005516 "NCIT:C84978" @@ -23464,11 +22904,11 @@ MONDO:0005516 "DOID:2256" MONDO:0005516 "SCTID:105985007" MONDO:0012405 "Orphanet:157794" MONDO:0012405 "UMLS:C1864730" -MONDO:0012405 "OMIM:610069" MONDO:0012405 "MESH:C566451" +MONDO:0012405 "OMIM:610069" MONDO:0012405 "DOID:0111686" -MONDO:0007716 "ICD10:D56.0" MONDO:0007716 "DOID:0110029" +MONDO:0007716 "ICD10CM:D56.0" MONDO:0007716 "ICD9:282.49" MONDO:0007716 "SCTID:277918006" MONDO:0007716 "Orphanet:98791" @@ -23481,7 +22921,6 @@ MONDO:0006653 "UMLS:C0003164" MONDO:0006653 "SCTID:33548005" MONDO:0006653 "CSP:2596-4484" MONDO:0006653 "MedDRA:10050363" -MONDO:0006653 "ICD10:J60" MONDO:0006653 "EFO:1000813" MONDO:0006653 "NCIT:C34389" MONDO:0006653 "DOID:10324" @@ -23495,13 +22934,12 @@ MONDO:0007164 "OMIM:108600" MONDO:0007164 "MESH:C566993" MONDO:0007164 "Orphanet:251282" MONDO:0007164 "DOID:0050772" -MONDO:0007164 "ICD10:G11.4" +MONDO:0007164 "ICD10CM:G11.4" MONDO:0004778 "ICD9:604" MONDO:0004778 "SCTID:197983000" MONDO:0004778 "DOID:9401" +MONDO:0004778 "ICD10CM:N45.3" MONDO:0004778 "ICD9:604.90" -MONDO:0004778 "ICD10:N45" -MONDO:0004778 "ICD10:N45.3" MONDO:0004778 "UMLS:C0149881" MONDO:0005852 "DOID:1754" MONDO:0005852 "SCTID:79619009" @@ -23515,8 +22953,8 @@ MONDO:0017386 "ONCOTREE:PLRMS" MONDO:0017386 "SCTID:404054005" MONDO:0017386 "UMLS:C0334480" MONDO:0017386 "DOID:3250" +MONDO:0017386 "ICD10CM:C49.9" MONDO:0017386 "NCIT:C4258" -MONDO:0017386 "ICD10:C49.9" MONDO:0001471 "ICD9:115.91" MONDO:0001471 "DOID:12246" MONDO:0010447 "UMLS:C0796225" @@ -23529,7 +22967,6 @@ MONDO:0012720 "GARD:0010289" MONDO:0012720 "UMLS:C2673266" MONDO:0012720 "OMIM:611722" MONDO:0005382 "OMIM:167250" -MONDO:0005382 "ICD10:M88" MONDO:0005382 "UMLS:C0029401" MONDO:0005382 "EFO:0004261" MONDO:0005382 "SCTID:2089002" @@ -23541,9 +22978,9 @@ MONDO:0005382 "OMIM:606263" MONDO:0005382 "OMIM:602080" MONDO:0018788 "Orphanet:477759" MONDO:0018788 "UMLS:CN776854" -MONDO:0008582 "ICD10:Q82.4" MONDO:0008582 "NCIT:C40553" MONDO:0008582 "DOID:6678" +MONDO:0008582 "ICD10CM:Q82.4" MONDO:0008582 "Orphanet:2228" MONDO:0008582 "UMLS:C0406735" MONDO:0008582 "SCTID:400036004" @@ -23560,9 +22997,9 @@ MONDO:0020989 "SCTID:191201002" MONDO:0020989 "UMLS:C0019025" MONDO:0007385 "UMLS:C1852540" MONDO:0007385 "Orphanet:458718" -MONDO:0007385 "ICD10:I25.4" MONDO:0007385 "OMIM:122455" MONDO:0007385 "MESH:C565153" +MONDO:0007385 "ICD10CM:I25.4" MONDO:0014274 "Orphanet:440731" MONDO:0014274 "OMIM:615604" MONDO:0014274 "UMLS:C3810090" @@ -23572,9 +23009,9 @@ MONDO:0010762 "Orphanet:391" MONDO:0010762 "OMIM:400021" MONDO:0016175 "Orphanet:209" MONDO:0016175 "MedDRA:10011692" -MONDO:0016175 "ICD10:Q82.8" MONDO:0016175 "GARD:0006227" MONDO:0016175 "DOID:3144" +MONDO:0016175 "ICD10CM:Q82.8" MONDO:0016175 "SCTID:58588007" MONDO:0016175 "NCIT:C84663" MONDO:0016175 "UMLS:C0010495" @@ -23584,11 +23021,12 @@ MONDO:0019375 "OMIM:615937" MONDO:0019375 "OMIM:615938" MONDO:0019375 "OMIM:603387" MONDO:0019375 "OMIMPS:603387" -MONDO:0019375 "ICD10:Q04.8" +MONDO:0019375 "ICD10CM:Q04.8" MONDO:0019375 "GARD:0010341" MONDO:0019375 "SCTID:722036008" MONDO:0023288 "UMLS:C2931777" MONDO:0023288 "MESH:C538221" +MONDO:0023288 "OMIM:601446" MONDO:0023288 "GARD:0002447" MONDO:0003925 "NCIT:C6843" MONDO:0003925 "DOID:6562" @@ -23596,13 +23034,13 @@ MONDO:0003925 "UMLS:C1333474" MONDO:0019551 "DOID:0080068" MONDO:0019551 "UMLS:C0393807" MONDO:0019551 "OMIM:601152" +MONDO:0019551 "ICD10CM:G60.0" MONDO:0019551 "OMIM:616505" -MONDO:0019551 "ICD10:G60.0" MONDO:0019551 "Orphanet:90120" MONDO:0019204 "UMLS:CN205794" +MONDO:0019204 "ICD10CM:J68.4" MONDO:0019204 "MedDRA:10066393" MONDO:0019204 "Orphanet:79127" -MONDO:0019204 "ICD10:J68.4" MONDO:0000303 "DOID:0050279" MONDO:0000303 "ICD9:111.8" MONDO:0000303 "SCTID:240783007" @@ -23657,8 +23095,8 @@ MONDO:0007647 "UMLS:C1850902" MONDO:0007647 "MESH:C564989" MONDO:0013870 "UMLS:C3553571" MONDO:0013870 "DOID:0070263" -MONDO:0013870 "ICD10:E77.8" MONDO:0013870 "SCTID:732252005" +MONDO:0013870 "ICD10CM:E77.8" MONDO:0013870 "OMIM:614727" MONDO:0013870 "GARD:0012413" MONDO:0013870 "Orphanet:314667" @@ -23667,11 +23105,11 @@ MONDO:0005486 "OMIM:602639" MONDO:0005486 "EFO:0005410" MONDO:0005486 "Orphanet:99798" MONDO:0005486 "OMIM:610926" -MONDO:0005486 "ICD10:K00.0" MONDO:0005486 "OMIM:616724" MONDO:0005486 "OMIM:106600" MONDO:0005486 "OMIMPS:106600" MONDO:0005486 "UMLS:CN169366" +MONDO:0005486 "ICD10CM:K00.0" MONDO:0005486 "ICD9:520.0" MONDO:0005486 "SCTID:16958000" MONDO:0005486 "OMIM:150400" @@ -23697,7 +23135,6 @@ MONDO:0001098 "NCIT:C35014" MONDO:0001098 "SCTID:11806006" MONDO:0020115 "Orphanet:98428" MONDO:0020115 "NCIT:C27178" -MONDO:0020115 "ICD10:D75.1" MONDO:0020115 "UMLS:C1318533" MONDO:0020115 "MedDRA:10036062" MONDO:0010226 "UMLS:C1848296" @@ -23710,13 +23147,12 @@ MONDO:0024620 "UMLS:C4303134" MONDO:0024620 "SCTID:721765009" MONDO:0019198 "MESH:D009879" MONDO:0019198 "MedDRA:10042742" -MONDO:0019198 "ICD10:H44.13" +MONDO:0019198 "ICD10CM:H44.1" MONDO:0019198 "UMLS:C0029077" MONDO:0019198 "DOID:12029" MONDO:0019198 "SCTID:75315001" MONDO:0019198 "EFO:1001205" MONDO:0019198 "Orphanet:79098" -MONDO:0019198 "ICD10:H44.1" MONDO:0019198 "ICD9:360.11" MONDO:0006090 "NCIT:C96416" MONDO:0006090 "UMLS:C3272761" @@ -23730,18 +23166,18 @@ MONDO:0006068 "NCIT:C7462" MONDO:0006068 "EFO:1000066" MONDO:0017635 "Orphanet:306666" MONDO:0017635 "UMLS:CN203530" -MONDO:0012407 "GARD:0010730" +MONDO:0012407 "DOID:0111329" MONDO:0012407 "SCTID:724576005" -MONDO:0012407 "MESH:C566449" MONDO:0012407 "OMIM:610090" -MONDO:0012407 "Orphanet:79096" -MONDO:0012407 "DOID:0111329" MONDO:0012407 "UMLS:C1864723" -MONDO:0012407 "ICD10:G40.8" +MONDO:0012407 "MESH:C566449" +MONDO:0012407 "Orphanet:79096" +MONDO:0012407 "GARD:0010730" +MONDO:0012407 "ICD10CM:G40.8" MONDO:0018567 "Orphanet:435819" MONDO:0018567 "UMLS:CN237576" MONDO:0018567 "OMIM:604484" -MONDO:0018567 "ICD10:G60.0" +MONDO:0018567 "ICD10CM:G60.0" MONDO:0007014 "EFO:1001235" MONDO:0007014 "UMLS:C0042636" MONDO:0007014 "MESH:D014735" @@ -23762,9 +23198,9 @@ NCBITaxon:171637 "PMID:24631854" NCBITaxon:171637 "GC_ID:1" MONDO:0014053 "OMIM:615121" MONDO:0010541 "OMIM:302030" +MONDO:0010541 "ICD10CM:M85.2" MONDO:0010541 "Orphanet:391327" MONDO:0010541 "GARD:0001058" -MONDO:0010541 "ICD10:M85.2" MONDO:0010541 "MESH:C537963" MONDO:0024503 "MESH:C535650" MONDO:0024503 "GARD:0002437" @@ -23795,38 +23231,39 @@ MONDO:0000694 "SCTID:247803002" MONDO:0000694 "ICD9:296.99" MONDO:0000694 "MESH:D016574" MONDO:0008432 "OMIM:182270" -MONDO:0012095 "ICD10:Q87.0" MONDO:0012095 "UMLS:C1837564" MONDO:0012095 "Orphanet:364577" MONDO:0012095 "OMIM:608670" MONDO:0012095 "MESH:C563880" +MONDO:0012095 "ICD10CM:Q87.0" MONDO:0022892 "GARD:0001586" -MONDO:0012271 "ICD10:Q70.0" MONDO:0012271 "SCTID:724170007" MONDO:0012271 "OMIM:609432" -MONDO:0012271 "ICD10:Q70.2" MONDO:0012271 "UMLS:C1836206" MONDO:0012271 "GARD:0010590" MONDO:0012271 "Orphanet:157801" +MONDO:0012271 "ICD10CM:Q70.2" MONDO:0012271 "MESH:C563721" -MONDO:0021839 "MESH:D013145" +MONDO:0012271 "ICD10CM:Q70.0" MONDO:0021839 "GARD:0007682" +MONDO:0021839 "ICD10CM:A65-A69" MONDO:0021839 "UMLS:C0037974" +MONDO:0021839 "MESH:D013145" MONDO:0011982 "OMIM:608175" MONDO:0007235 "SCTID:449821007" MONDO:0007235 "GARD:0003212" MONDO:0007235 "Orphanet:1297" -MONDO:0007235 "ICD10:Q18.8" MONDO:0007235 "DOID:0050691" MONDO:0007235 "ICD9:759.89" MONDO:0007235 "OMIM:113620" +MONDO:0007235 "ICD10CM:Q18.8" MONDO:0011827 "MESH:D004374" +MONDO:0011827 "ICD10CM:Q25.0" MONDO:0011827 "GARD:0007342" MONDO:0011827 "DOID:13832" MONDO:0011827 "Orphanet:706" MONDO:0011827 "ICD9:747.0" MONDO:0011827 "SCTID:83330001" -MONDO:0011827 "ICD10:Q25.0" MONDO:0011827 "OMIM:607411" MONDO:0011827 "NCIT:C84492" MONDO:0011827 "OMIMPS:607411" @@ -23835,12 +23272,11 @@ MONDO:0008361 "OMIM:179400" MONDO:0017438 "SCTID:265798000" MONDO:0017438 "Orphanet:294969" MONDO:0017438 "HP:0009818" -MONDO:0017438 "ICD10:Q72.0" MONDO:0008888 "ICD9:748.3" MONDO:0008888 "Orphanet:411501" MONDO:0008888 "SCTID:54203008" +MONDO:0008888 "ICD10CM:Q33.4" MONDO:0008888 "OMIM:211450" -MONDO:0008888 "ICD10:Q33.4" MONDO:0008888 "GARD:0007791" MONDO:0013302 "DOID:0111118" MONDO:0013302 "UMLS:C3150796" @@ -23856,7 +23292,7 @@ MONDO:0022220 "UMLS:C0152222" MONDO:0022220 "SCTID:37991008" MONDO:0022220 "NCIT:C54102" MONDO:0032868 "OMIM:618681" -MONDO:0019985 "ICD10:Q63.8" +MONDO:0019985 "ICD10CM:Q63.8" MONDO:0019985 "Orphanet:97368" CL:1001580 "CALOHA:TS-1257" MONDO:0014743 "DOID:0110854" @@ -23866,39 +23302,38 @@ MONDO:0014743 "OMIM:616716" MONDO:0700087 "OMIM:276900" MONDO:0700087 "MESH:C536485" MONDO:0001287 "UMLS:C0156348" -MONDO:0001287 "ICD10:N80.6" MONDO:0001287 "DOID:11430" MONDO:0001287 "SCTID:53913001" MONDO:0001287 "ICD9:617.6" +MONDO:0001287 "ICD10CM:N80.6" MONDO:0001463 "SCTID:363413005" MONDO:0001463 "UMLS:C0153440" -MONDO:0001463 "ICD10:C18.5" MONDO:0001463 "DOID:12191" MONDO:0001463 "ICD9:153.7" +MONDO:0004663 "ICD10CM:D01.0" MONDO:0004663 "DOID:8826" MONDO:0004663 "SCTID:92568009" -MONDO:0004663 "ICD10:D01.0" MONDO:0004663 "UMLS:C0154061" MONDO:0004663 "NCIT:C3638" MONDO:0004663 "ICD9:230.3" +MONDO:0018625 "ICD10CM:G25.8" MONDO:0018625 "Orphanet:443192" MONDO:0018625 "OMIM:184850" MONDO:0018625 "UMLS:CN237666" -MONDO:0018625 "ICD10:G25.8" CL:0000339 "FMA:70564" MONDO:0012399 "Orphanet:208444" MONDO:0012399 "UMLS:CN203403" +MONDO:0012399 "ICD10CM:Q04.3" MONDO:0012399 "OMIM:610031" MONDO:0012399 "GARD:10783" MONDO:0012399 "Orphanet:268940" MONDO:0012399 "Orphanet:300573" -MONDO:0012399 "ICD10:Q04.3" MONDO:0012399 "DOID:0090132" +MONDO:0019868 "ICD10CM:Q92.1" MONDO:0019868 "SCTID:764461004" MONDO:0019868 "Orphanet:96063" MONDO:0019868 "MESH:C538292" MONDO:0019868 "UMLS:CN035866" -MONDO:0019868 "ICD10:Q92.1" MONDO:0019868 "GARD:0005406" MONDO:0003466 "NCIT:C4277" MONDO:0003466 "ICDO:9041/3" @@ -23907,12 +23342,12 @@ MONDO:0003466 "UMLS:C0334505" MONDO:0013731 "GARD:0012199" MONDO:0013731 "UMLS:C3280679" MONDO:0013731 "DOID:0111333" -MONDO:0013731 "ICD10:G71.2" +MONDO:0013731 "ICD10CM:G71.2" MONDO:0013731 "Orphanet:98920" MONDO:0013731 "Orphanet:439212" MONDO:0013731 "OMIM:614399" MONDO:0020117 "Orphanet:98455" -MONDO:0020117 "ICD10:D69.1" +MONDO:0020117 "ICD10CM:D69.1" MONDO:0020117 "UMLS:CN207009" MONDO:0010228 "MESH:C564727" MONDO:0010228 "DOID:0111736" @@ -23924,14 +23359,14 @@ MONDO:0011691 "OMIM:606640" MONDO:0011691 "GARD:0010501" MONDO:0011691 "Orphanet:803" MONDO:0011691 "DOID:0060195" -MONDO:0001684 "ICD10:K86.81" +MONDO:0001684 "ICD10CM:K86.81" MONDO:0001684 "NCIT:C84316" MONDO:0001684 "ICD9:577.8" MONDO:0001684 "SCTID:47367009" MONDO:0001684 "MESH:D010188" MONDO:0001684 "DOID:13316" MONDO:0001684 "UMLS:C0267963" -MONDO:0010638 "ICD10:Q87.1" +MONDO:0010638 "ICD10CM:Q87.1" MONDO:0010638 "OMIM:308830" MONDO:0010638 "MESH:C536158" MONDO:0010638 "UMLS:C1839910" @@ -23944,15 +23379,15 @@ MONDO:0003884 "DOID:6459" MONDO:0003884 "NCIT:C5551" MONDO:0003884 "UMLS:C1335684" MONDO:0020703 "NCIT:C7064" -MONDO:0019367 "ICD10:K00.4" MONDO:0019367 "SCTID:66063001" MONDO:0019367 "Orphanet:83450" MONDO:0019367 "MESH:D018126" +MONDO:0019367 "ICD10CM:K00.4" HP:0006487 "UMLS:C1855340" MONDO:0016858 "UMLS:CN202201" +MONDO:0016858 "ICD10CM:Q10.3" MONDO:0016858 "OMIM:110100" MONDO:0016858 "Orphanet:261572" -MONDO:0016858 "ICD10:Q10.3" MONDO:0000334 "OMIMPS:138800" MONDO:0000334 "SCTID:237570007" MONDO:0000334 "Orphanet:276399" @@ -23964,30 +23399,30 @@ MONDO:0000334 "OMIM:606082" MONDO:0000334 "DOID:0050489" MONDO:0012817 "DOID:0050608" MONDO:0012817 "DOID:3369" -MONDO:0012817 "ICD10:C41.2" +MONDO:0012817 "ICD10CM:C41.4" +MONDO:0012817 "ICD10CM:C41.3" MONDO:0012817 "UMLS:C0684337" MONDO:0012817 "Orphanet:319" MONDO:0012817 "NCIT:C4817" +MONDO:0012817 "ICD10CM:C40.3" +MONDO:0012817 "ICD10CM:C40.2" MONDO:0012817 "MESH:D012512" MONDO:0012817 "NCIT:C9341" MONDO:0012817 "GARD:0006390" -MONDO:0012817 "ICD10:C40.1" -MONDO:0012817 "ICD10:C41.3" -MONDO:0012817 "ICD10:C40.3" MONDO:0012817 "Orphanet:2677" MONDO:0012817 "OMIM:612219" MONDO:0012817 "ICDO:9260/3" MONDO:0012817 "EFO:0000174" -MONDO:0012817 "ICD10:C41.4" MONDO:0012817 "ONCOTREE:ES" -MONDO:0012817 "ICD10:C40.0" MONDO:0012817 "UMLS:C3489398" -MONDO:0012817 "ICD10:C40.2" +MONDO:0012817 "ICD10CM:C40.1" +MONDO:0012817 "ICD10CM:C40.0" MONDO:0012817 "MedDRA:10015560" MONDO:0012817 "UMLS:C0553580" +MONDO:0012817 "ICD10CM:C41.2" MONDO:0006237 "EFO:1000286" MONDO:0006237 "NCIT:C35815" -MONDO:0016060 "ICD10:Q32.1" +MONDO:0016060 "ICD10CM:Q32.1" MONDO:0016060 "OMIM:215800" MONDO:0016060 "NCIT:C98622" MONDO:0016060 "GARD:0003188" @@ -23996,8 +23431,8 @@ MONDO:0016060 "SCTID:232461002" MONDO:0016060 "Orphanet:2004" MONDO:0019577 "OMIM:614149" MONDO:0019577 "MESH:C536378" +MONDO:0019577 "ICD10CM:Q84.3" MONDO:0019577 "OMIM:107000" -MONDO:0019577 "ICD10:Q84.3" MONDO:0019577 "UMLS:C1862840" MONDO:0019577 "Orphanet:90390" MONDO:0015643 "Orphanet:166409" @@ -24008,9 +23443,9 @@ MONDO:0015643 "DOID:0060281" MONDO:0015643 "OMIM:609572" MONDO:0015643 "GARD:0005648" MONDO:0015643 "OMIMPS:132100" -MONDO:0015643 "ICD10:G40.8" MONDO:0015643 "SCTID:95208000" MONDO:0015643 "OMIM:609573" +MONDO:0015643 "ICD10CM:G40.8" MONDO:0008667 "NCIT:C3105" MONDO:0008667 "OMIM:193300" MONDO:0008667 "UMLS:C0019562" @@ -24021,7 +23456,7 @@ MONDO:0008667 "MedDRA:10047716" MONDO:0008667 "SCTID:46659004" MONDO:0008667 "Orphanet:892" MONDO:0008667 "GARD:0007855" -MONDO:0008667 "ICD10:Q85.8" +MONDO:0008667 "ICD10CM:Q85.8" MONDO:0009613 "UMLS:C1855109" MONDO:0009613 "UMLS:C0342721" MONDO:0009613 "OMIM:251100" @@ -24029,11 +23464,11 @@ MONDO:0009613 "DOID:0060742" MONDO:0009613 "Orphanet:79310" MONDO:0009613 "SCTID:82245003" MONDO:0009613 "UMLS:C0342722" +MONDO:0009613 "ICD10CM:E71.1" MONDO:0009613 "NCIT:C142171" MONDO:0009613 "SCTID:73843004" MONDO:0009613 "Orphanet:28" MONDO:0009613 "GARD:0005500" -MONDO:0009613 "ICD10:E71.1" MONDO:0001567 "NCIT:C84918" MONDO:0001567 "DOID:12679" MONDO:0001567 "ICD9:275.49" @@ -24052,13 +23487,13 @@ MONDO:0021053 "GARD:0010598" MONDO:0004279 "UMLS:C0751942" MONDO:0004279 "DOID:7558" MONDO:0004279 "NCIT:C27212" +MONDO:0019764 "ICD10CM:Q32.1" MONDO:0019764 "Orphanet:93941" MONDO:0019764 "UMLS:CN206699" -MONDO:0019764 "ICD10:Q32.1" MONDO:0017330 "Orphanet:289385" MONDO:0017330 "UMLS:CN227116" +MONDO:0008211 "ICD10CM:E34.8" MONDO:0008211 "OMIM:169170" -MONDO:0008211 "ICD10:E34.8" MONDO:0008211 "MESH:C536310" MONDO:0008211 "UMLS:C1868546" MONDO:0008211 "GARD:0004259" @@ -24082,19 +23517,19 @@ MONDO:0002149 "NCIT:C3674" MONDO:0007400 "UMLS:C0795998" MONDO:0007400 "SCTID:709105005" MONDO:0007400 "ICD9:759.89" -MONDO:0007400 "ICD10:Q87.8" MONDO:0007400 "GARD:0006796" MONDO:0007400 "OMIM:123150" MONDO:0007400 "NCIT:C123814" MONDO:0007400 "Orphanet:1540" MONDO:0007400 "MESH:C537559" MONDO:0007400 "DOID:0111337" +MONDO:0007400 "ICD10CM:Q87.8" MONDO:0010918 "OMIM:600669" MONDO:0010918 "ICD9:345.10" MONDO:0010918 "SCTID:36803009" +MONDO:0020098 "ICD10CM:D50.8" MONDO:0020098 "Orphanet:98360" MONDO:0020098 "UMLS:CN227778" -MONDO:0020098 "ICD10:D50.8" MONDO:0044260 "HGNC:7832" MONDO:0005525 "MESH:D015458" MONDO:0005525 "DOID:715" @@ -24108,16 +23543,15 @@ CL:0000192 "FMA:14072" CL:0000192 "CALOHA:TS-2159" MONDO:0018083 "UMLS:CN204402" MONDO:0018083 "Orphanet:3402" -MONDO:0018083 "ICD10:P74.5" MONDO:0018083 "GARD:0005388" MONDO:0007899 "OMIM:151590" MONDO:0007899 "MESH:D018459" MONDO:0007899 "GARD:0006905" MONDO:0007899 "Orphanet:33409" -MONDO:0007899 "ICD10:L90.0" MONDO:0007899 "UMLS:C0023652" MONDO:0007899 "SCTID:25674000" MONDO:0007899 "NCIT:C26817" +MONDO:0007899 "ICD10CM:L90.0" CL:1001430 "KUPO:0001124" MONDO:0030720 "ICD9:131.01" MONDO:0030720 "SCTID:81598001" @@ -24125,7 +23559,7 @@ MONDO:0030720 "UMLS:C2945558" MONDO:0001137 "ICD9:062.4" MONDO:0001137 "DOID:10842" MONDO:0001137 "UMLS:C0153066" -MONDO:0001137 "ICD10:A83.4" +MONDO:0001137 "ICD10CM:A83.4" MONDO:0001137 "SCTID:66454007" MONDO:0021482 "SCTID:92218002" MONDO:0021482 "UMLS:C0347213" @@ -24144,45 +23578,42 @@ MONDO:0004513 "NCIT:C27369" MONDO:0004513 "UMLS:C1332211" MONDO:0004513 "ICDO:8901/3" MONDO:0020285 "Orphanet:98717" -MONDO:0014079 "OMIM:615197" MONDO:0010049 "MESH:C564809" MONDO:0010049 "OMIM:270850" MONDO:0010049 "UMLS:C1849113" MONDO:0010049 "Orphanet:2818" MONDO:0010049 "GARD:0004931" MONDO:0011123 "UMLS:C1866519" -MONDO:0011123 "ICD10:E10" MONDO:0011123 "OMIM:601666" MONDO:0011123 "DOID:0110753" MONDO:0011123 "MESH:C566645" -MONDO:0024876 "UMLS:C0729734" -MONDO:0024876 "SCTID:312381009" -MONDO:0024876 "ICD9:727.9" +MONDO:0014079 "OMIM:615197" MONDO:0012681 "DOID:0111311" MONDO:0012681 "UMLS:C1969087" MONDO:0012681 "MESH:C566929" MONDO:0012681 "OMIM:611515" +MONDO:0024876 "UMLS:C0729734" +MONDO:0024876 "SCTID:312381009" +MONDO:0024876 "ICD9:727.9" MONDO:0003316 "NCIT:C6951" MONDO:0003316 "UMLS:C1335062" MONDO:0013966 "DOID:0060678" MONDO:0013966 "UMLS:C3554047" MONDO:0013966 "Orphanet:3286" MONDO:0013966 "OMIM:614916" -MONDO:0013966 "ICD10:I47.2" -MONDO:0001042 "ICD10:M76.50" MONDO:0001042 "DOID:10471" -MONDO:0001042 "ICD10:M76.5" MONDO:0001042 "ICD9:726.64" +MONDO:0001042 "ICD10CM:M76.5" MONDO:0001042 "SCTID:37785001" MONDO:0001042 "UMLS:C0158317" NCBITaxon:1980467 "GC_ID:1" MONDO:0018270 "UMLS:C0279980" MONDO:0018270 "DOID:4232" -MONDO:0018270 "ICD10:C49.9" MONDO:0018270 "UMLS:C1333514" MONDO:0018270 "NCIT:C7135" MONDO:0018270 "Orphanet:370334" MONDO:0018270 "NCIT:C27293" +MONDO:0018270 "ICD10CM:C49.9" MONDO:0018270 "UMLS:CN204849" HP:0100324 "SNOMEDCT_US:403524003" HP:0100324 "SNOMEDCT_US:89155008" @@ -24193,17 +23624,17 @@ MONDO:0022884 "GARD:0001573" MONDO:0004969 "EFO:0000225" MONDO:0019009 "OMIM:607341" MONDO:0019009 "Orphanet:65683" -MONDO:0019009 "ICD10:Q04.8" +MONDO:0019009 "ICD10CM:Q04.8" MONDO:0019009 "SCTID:766710005" MONDO:0005915 "ICD9:111.0" MONDO:0005915 "MESH:D014010" MONDO:0005915 "UMLS:C0040262" MONDO:0005915 "SCTID:56454009" MONDO:0005915 "NCIT:C82981" -MONDO:0005915 "ICD10:B36.0" +MONDO:0005915 "ICD10CM:B36.0" MONDO:0005915 "EFO:0007439" MONDO:0005915 "DOID:9060" -MONDO:0007570 "ICD10:L59.8" +MONDO:0007570 "ICD10CM:L59.8" MONDO:0007570 "Orphanet:231031" MONDO:0007570 "MESH:C565041" MONDO:0007570 "OMIM:133000" @@ -24212,10 +23643,10 @@ MONDO:0007570 "UMLS:C1851502" MONDO:0043131 "GARD:0003590" MONDO:0043131 "MESH:C537576" MONDO:0043131 "UMLS:C2931537" +MONDO:0008901 "ICD10CM:Q74.0" MONDO:0008901 "SCTID:719946008" MONDO:0008901 "UMLS:C1859356" MONDO:0008901 "OMIM:211960" -MONDO:0008901 "ICD10:Q74.0" MONDO:0008901 "MESH:C536953" MONDO:0008901 "Orphanet:3292" MONDO:0008901 "GARD:0005128" @@ -24233,7 +23664,7 @@ MONDO:0023297 "SCTID:37042000" MONDO:0023297 "ICD9:696.1" MONDO:0023297 "GARD:0010569" MONDO:0023297 "UMLS:C0343052" -MONDO:0023297 "ICD10:L40.4" +MONDO:0023297 "ICD10CM:L40.4" MONDO:0003182 "ICD9:335.9" MONDO:0003182 "ICD9:335" MONDO:0003182 "DOID:4873" @@ -24251,8 +23682,8 @@ MONDO:0008517 "OMIM:186350" MONDO:0008517 "UMLS:C1861347" MONDO:0008517 "GARD:0005090" MONDO:0008517 "Orphanet:3259" -MONDO:0100470 "SCITD:991000119106" MONDO:0100470 "NCIT:C113673" +MONDO:0100470 "SCTID:991000119106" MONDO:0011552 "MESH:D012560" MONDO:0011552 "OMIM:605419" MONDO:0011552 "DOID:0070086" @@ -24266,15 +23697,14 @@ MONDO:0043352 "GARD:0010912" MONDO:0043352 "UMLS:C0238419" MONDO:0015151 "OMIMPS:603511" MONDO:0015151 "UMLS:CN043626" +MONDO:0015151 "ICD10CM:G71.0" MONDO:0015151 "UMLS:CN228919" MONDO:0015151 "DOID:0110273" -MONDO:0015151 "ICD10:G71.0" MONDO:0015151 "Orphanet:102014" MONDO:0006402 "EFO:1000515" MONDO:0006402 "ICDO:8147/3" MONDO:0006402 "NCIT:C3678" MONDO:0012273 "MESH:C563720" -MONDO:0012273 "ICD10:H90.3" MONDO:0012273 "UMLS:C1836199" MONDO:0012273 "DOID:0110505" MONDO:0012273 "OMIM:609439" @@ -24288,16 +23718,16 @@ MONDO:0019062 "Orphanet:68416" MONDO:0010281 "UMLS:C0878677" MONDO:0010281 "ICD9:759.89" MONDO:0010281 "EFO:1001333" +MONDO:0010281 "ICD10CM:E74.0" MONDO:0010281 "Orphanet:34587" MONDO:0010281 "OMIM:300257" MONDO:0010281 "SCTID:419097006" MONDO:0010281 "NCIT:C84735" MONDO:0010281 "GARD:0009730" -MONDO:0010281 "ICD10:E74.0" MONDO:0010281 "DOID:0050437" MONDO:0010281 "MESH:D052120" MONDO:0016553 "Orphanet:238666" -MONDO:0016553 "ICD10:E23.0" +MONDO:0016553 "ICD10CM:E23.0" MONDO:0016553 "UMLS:CN924907" MONDO:0025505 "MESH:D053489" MONDO:0025505 "UMLS:C1720999" @@ -24309,14 +23739,13 @@ MONDO:0012460 "DOID:0110518" MONDO:0012460 "MESH:C565207" MONDO:0012460 "OMIM:610265" MONDO:0012460 "UMLS:C1853223" -MONDO:0012460 "ICD10:H90.3" MONDO:0015448 "OMIM:615160" MONDO:0015448 "OMIM:615824" -MONDO:0015448 "ICD10:G71.3" MONDO:0015448 "OMIM:615453" MONDO:0015448 "OMIM:615157" MONDO:0015448 "OMIM:615159" MONDO:0015448 "Orphanet:1460" +MONDO:0015448 "ICD10CM:G71.3" MONDO:0015448 "OMIM:616111" MONDO:0015448 "OMIM:615838" MONDO:0015448 "DOID:0111139" @@ -24338,64 +23767,61 @@ MONDO:0002318 "SCTID:126703006" MONDO:0019907 "GARD:0006069" MONDO:0019907 "MESH:C538303" MONDO:0019907 "Orphanet:96176" -MONDO:0019907 "ICD10:Q93.2" MONDO:0019907 "SCTID:726723004" +MONDO:0019907 "ICD10CM:Q93.2" MONDO:0022316 "SCTID:721007005" -MONDO:0017627 "ICD10:Q87.0" +MONDO:0017627 "ICD10CM:Q87.0" MONDO:0017627 "OMIM:604185" MONDO:0017627 "OMIM:614744" MONDO:0017627 "Orphanet:306530" MONDO:0017627 "SCTID:722389002" MONDO:0004748 "SCTID:90678009" MONDO:0004748 "MESH:D008047" -MONDO:0004748 "ICD10:K13.0" MONDO:0004748 "UMLS:C0023760" MONDO:0004748 "NCIT:C26818" MONDO:0004748 "ICD9:528.5" MONDO:0004748 "DOID:9297" -MONDO:0017994 "ICD10:E66.8" MONDO:0017994 "Orphanet:329249" +MONDO:0017994 "ICD10CM:E66.8" MONDO:0017994 "UMLS:CN204200" MONDO:0016889 "Orphanet:261911" -MONDO:0016889 "ICD10:Q93.5" +MONDO:0016889 "ICD10CM:Q93.5" MONDO:0016889 "GARD:0001346" MONDO:0016091 "UMLS:CN200856" MONDO:0016091 "Orphanet:206448" -MONDO:0016091 "ICD10:E75.2" +MONDO:0016091 "ICD10CM:E75.2" MONDO:0006929 "UMLS:C0033700" MONDO:0006929 "MESH:D011512" MONDO:0006929 "EFO:1001130" MONDO:0006929 "SCTID:186437007" MONDO:0015669 "Orphanet:167762" MONDO:0019120 "SCTID:717360009" -MONDO:0019120 "ICD10:L67.8" +MONDO:0019120 "ICD10CM:L67.8" MONDO:0019120 "Orphanet:720" MONDO:0007290 "Orphanet:91492" MONDO:0007290 "DOID:0110255" MONDO:0007290 "OMIM:116800" MONDO:0007290 "MESH:C535342" MONDO:0007290 "Orphanet:98995" -MONDO:0007290 "ICD10:Q12.0" MONDO:0009249 "UMLS:C0016751" MONDO:0009249 "ICD9:271.2" MONDO:0009249 "SCTID:20052008" +MONDO:0009249 "ICD10CM:E74.1" MONDO:0009249 "DOID:9869" MONDO:0009249 "OMIM:229600" MONDO:0009249 "NCIT:C84720" MONDO:0009249 "MedDRA:10019878" MONDO:0009249 "Orphanet:469" -MONDO:0009249 "ICD10:E74.12" -MONDO:0009249 "ICD10:E74.1" MONDO:0009249 "GARD:0006622" +MONDO:0009249 "ICD10CM:E74.12" MONDO:0013968 "DOID:0080570" +MONDO:0013968 "ICD10CM:E77.8" MONDO:0013968 "GARD:0004329" MONDO:0013968 "UMLS:C2752015" -MONDO:0013968 "ICD10:E77.8" MONDO:0013968 "Orphanet:319646" MONDO:0013968 "MESH:C567859" MONDO:0013968 "OMIM:614921" MONDO:0015845 "Orphanet:180145" -MONDO:0015845 "ICD10:Q51.5" NCBITaxon:740972 "PMID:20093080" NCBITaxon:740972 "GC_ID:1" MONDO:0020959 "UMLS:C0016089" @@ -24410,21 +23836,19 @@ MONDO:0010385 "Orphanet:538934" MONDO:0010385 "OMIM:300635" MONDO:0010385 "NCIT:C126295" MONDO:0010385 "GARD:0010916" -MONDO:0010385 "ICD10:D82.3" MONDO:0020450 "Orphanet:99121" -MONDO:0020450 "ICD10:Q26.8" +MONDO:0020450 "ICD10CM:Q26.8" +MONDO:0017493 "ICD10CM:Q72.6" MONDO:0017493 "Orphanet:295083" -MONDO:0017493 "ICD10:Q72.6" MONDO:0044346 "SCTID:75006000" MONDO:0044346 "UMLS:C0152068" MONDO:0044346 "ICD9:122.3" MONDO:0044346 "ICD9:122.4" -MONDO:0005917 "ICD10:O43.9" -MONDO:0005917 "EFO:0007441" MONDO:0005917 "NCIT:C35169" +MONDO:0005917 "EFO:0007441" MONDO:0005917 "ICD9:646.9" +MONDO:0005917 "ICD10CM:O30-O48" MONDO:0005917 "ICD9:656.70" -MONDO:0005917 "ICD10:O43.90" MONDO:0005917 "GARD:0007402" MONDO:0005917 "MESH:D011248" MONDO:0005917 "NCIT:C26857" @@ -24433,7 +23857,6 @@ MONDO:0005917 "MESH:D010922" MONDO:0005917 "SCTID:125586008" MONDO:0005917 "SCTID:173300003" MONDO:0005917 "DOID:780" -MONDO:0005917 "ICD10:O43" MONDO:0008370 "SCTID:723502001" MONDO:0008370 "UMLS:C1867332" MONDO:0008370 "MESH:C566721" @@ -24441,9 +23864,9 @@ MONDO:0008370 "Orphanet:99002" MONDO:0008370 "OMIM:179840" MONDO:0007173 "DOID:0110112" MONDO:0007173 "Orphanet:1479" -MONDO:0007173 "ICD10:Q21.1" MONDO:0007173 "UMLS:C3502353" MONDO:0007173 "OMIM:108900" +MONDO:0007173 "ICD10CM:Q21.1" MONDO:0007509 "GARD:0002048" MONDO:0007509 "UMLS:C3888065" MONDO:0007509 "Orphanet:1810" @@ -24459,17 +23882,17 @@ MONDO:0006793 "MESH:D006964" MONDO:0006793 "DOID:2444" MONDO:0006793 "SCTID:10649000" MONDO:0006793 "MedDRA:10020716" +MONDO:0018302 "ICD10CM:L67.8" MONDO:0018302 "Orphanet:37559" -MONDO:0018302 "ICD10:L67.8" MONDO:0018302 "UMLS:CN204889" -MONDO:0011787 "MESH:C564612" MONDO:0011787 "SCTID:718180000" -MONDO:0011787 "NCIT:C126739" -MONDO:0011787 "Orphanet:34515" MONDO:0011787 "OMIM:607155" -MONDO:0011787 "ICD10:G71.0" -MONDO:0011787 "DOID:0110299" MONDO:0011787 "GARD:0012533" +MONDO:0011787 "Orphanet:34515" +MONDO:0011787 "NCIT:C126739" +MONDO:0011787 "MESH:C564612" +MONDO:0011787 "ICD10CM:G71.0" +MONDO:0011787 "DOID:0110299" MONDO:0030543 "OMIM:619737" MONDO:0023119 "MESH:C536848" MONDO:0023119 "GARD:0008516" @@ -24481,9 +23904,9 @@ MONDO:0005391 "UMLS:C0035258" MONDO:0005391 "OMIM:612853" MONDO:0005391 "OMIM:102300" MONDO:0005391 "OMIM:610438" -MONDO:0005391 "ICD10:G25.81" MONDO:0005391 "NCIT:C84501" MONDO:0005391 "OMIM:611185" +MONDO:0005391 "ICD10CM:G25.81" MONDO:0005391 "MESH:D012148" MONDO:0005391 "OMIM:610439" MONDO:0005391 "EFO:0004270" @@ -24495,7 +23918,7 @@ MONDO:0005391 "OMIM:615197" MONDO:0005391 "OMIM:611242" MONDO:0005391 "GARD:0011926" MONDO:0005391 "SCTID:32914008" -MONDO:0009678 "ICD10:G71.0" +MONDO:0009678 "ICD10CM:G71.0" MONDO:0009678 "OMIM:253800" MONDO:0009678 "DOID:0050559" MONDO:0009678 "UMLS:C0410174" @@ -24504,12 +23927,11 @@ MONDO:0009678 "Orphanet:588" MONDO:0009678 "Orphanet:272" MONDO:0009678 "SCTID:111502003" MONDO:0009678 "Orphanet:899" -MONDO:0004223 "ICD10:H74.4" MONDO:0004223 "NCIT:C6933" +MONDO:0004223 "ICD10CM:H74.4" MONDO:0004223 "UMLS:C0271466" MONDO:0004223 "DOID:7439" MONDO:0004223 "SCTID:73103007" -MONDO:0013146 "ICD10:I49.8" MONDO:0013146 "OMIM:613120" MONDO:0013146 "DOID:0110224" MONDO:0013146 "Orphanet:130" @@ -24523,15 +23945,15 @@ MONDO:0018942 "Orphanet:592" MONDO:0018942 "UMLS:C2931639" MONDO:0018942 "SCTID:718175009" MONDO:0018942 "GARD:0000176" -MONDO:0018942 "ICD10:M60.8" +MONDO:0018942 "ICD10CM:M60.8" MONDO:0018942 "MESH:C537829" MONDO:0011154 "GARD:0000499" MONDO:0011154 "SCTID:720429007" MONDO:0011154 "DOID:0060385" +MONDO:0011154 "ICD10CM:Q75.4" MONDO:0011154 "MESH:C538185" MONDO:0011154 "UMLS:C1866168" MONDO:0011154 "Orphanet:1787" -MONDO:0011154 "ICD10:Q75.4" MONDO:0011154 "OMIM:601829" MONDO:0032730 "OMIM:618404" MONDO:0007938 "NCIT:C132270" @@ -24542,36 +23964,34 @@ MONDO:0007938 "Orphanet:242" MONDO:0007938 "DOID:0111771" MONDO:0005664 "NCIT:C84586" MONDO:0005664 "UMLS:C0004771" -MONDO:0005664 "ICD10:A44.9" -MONDO:0005664 "ICD10:A44" MONDO:0005664 "EFO:0007166" MONDO:0005664 "SCTID:266123003" MONDO:0005664 "MESH:D001474" MONDO:0005664 "DOID:11102" +MONDO:0005664 "ICD10CM:A44" MONDO:0005664 "ICD9:088.0" MONDO:0014548 "OMIM:616247" -MONDO:0014548 "ICD10:I45.8" MONDO:0014548 "Orphanet:768" MONDO:0014548 "DOID:0110655" MONDO:0014548 "Orphanet:101016" MONDO:0014548 "UMLS:C4015671" +MONDO:0013333 "NCIT:C86969" +MONDO:0013333 "OMIM:613628" HP:0001871 "SNOMEDCT_US:34093004" HP:0001871 "SNOMEDCT_US:191124002" HP:0001871 "UMLS:C4020864" HP:0001871 "UMLS:C0018939" HP:0001871 "UMLS:C0850715" HP:0001871 "MSH:D006402" -MONDO:0013333 "NCIT:C86969" -MONDO:0013333 "OMIM:613628" MONDO:0030996 "OMIM:619271" MONDO:0013536 "MESH:C564200" MONDO:0013536 "UMLS:C1841651" MONDO:0013536 "Orphanet:562509" MONDO:0013536 "OMIM:614034" +MONDO:0019909 "ICD10CM:Q93.2" MONDO:0019909 "Orphanet:96178" MONDO:0019909 "SCTID:763406004" MONDO:0019909 "GARD:0010855" -MONDO:0019909 "ICD10:Q93.2" MONDO:0011375 "MESH:C565842" MONDO:0011375 "UMLS:C1859069" MONDO:0011375 "OMIM:603828" @@ -24583,6 +24003,12 @@ MONDO:0002706 "NCIT:C27623" MONDO:0002706 "UMLS:C0269107" MONDO:0002706 "DOID:361" MONDO:0002706 "SCTID:61640006" +MONDO:0100086 "ICD10CM:P50-P61" +MONDO:0100086 "ICD10CM:P70-P74" +MONDO:0100086 "ICD10CM:P00-P96" +MONDO:0100086 "ICD10CM:P19-P29" +MONDO:0100086 "ICD10CM:P76-P78" +MONDO:0100086 "ICD10CM:P35-P39" MONDO:0009360 "Orphanet:2185" MONDO:0009360 "GARD:0006682" MONDO:0009360 "OMIM:236600" @@ -24605,31 +24031,30 @@ MONDO:0016397 "UMLS:CN201328" MONDO:0016397 "Orphanet:225681" MONDO:0015143 "Orphanet:102003" MONDO:0054699 "OMIM:617591" -MONDO:0019773 "DOID:0060326" -MONDO:0019773 "ICD10:Q05.6" -MONDO:0019773 "NCIT:C101201" -MONDO:0019773 "HP:0002475" -MONDO:0019773 "ICD10:Q05.7" -MONDO:0019773 "ICD10:Q05.1" -MONDO:0019773 "ICD10:Q05.3" -MONDO:0019773 "ICD10:Q05" +MONDO:0019773 "ICD10CM:Q05.2" MONDO:0019773 "EFO:1001369" -MONDO:0019773 "ICD10:Q05.0" -MONDO:0019773 "ICD10:Q05.9" -MONDO:0019773 "ICD10:Q05.2" -MONDO:0019773 "ICD10:Q05.5" +MONDO:0019773 "SCTID:414667000" +MONDO:0019773 "HP:0002475" +MONDO:0019773 "ICD10CM:Q05.8" +MONDO:0019773 "ICD10CM:Q05.6" +MONDO:0019773 "GARD:0003475" MONDO:0019773 "Orphanet:93969" -MONDO:0019773 "MESH:D008591" MONDO:0019773 "SCTID:203994003" -MONDO:0019773 "ICD10:Q05.8" -MONDO:0019773 "GARD:0003475" -MONDO:0019773 "SCTID:414667000" -MONDO:0019773 "ICD10:Q05.4" +MONDO:0019773 "ICD10CM:Q05.0" +MONDO:0019773 "NCIT:C101201" +MONDO:0019773 "MESH:D008591" +MONDO:0019773 "DOID:0060326" +MONDO:0019773 "ICD10CM:Q05.5" +MONDO:0019773 "ICD10CM:Q05.3" +MONDO:0019773 "ICD10CM:Q05.9" +MONDO:0019773 "ICD10CM:Q05.7" +MONDO:0019773 "ICD10CM:Q05.4" +MONDO:0019773 "ICD10CM:Q05.1" MONDO:0000525 "UMLS:C1332869" MONDO:0000525 "EFO:1000155" MONDO:0000525 "NCIT:C5520" MONDO:0000525 "DOID:0050910" -MONDO:0018576 "ICD10:G93.4" +MONDO:0018576 "ICD10CM:G93.4" MONDO:0018576 "Orphanet:436271" MONDO:0003924 "HP:0008256" MONDO:0003924 "Orphanet:99888" @@ -24647,19 +24072,19 @@ MONDO:0003924 "ICDO:8370/0" MONDO:0005213 "SCTID:446022000" MONDO:0005213 "EFO:0002919" MONDO:0005213 "UMLS:C2960452" -MONDO:0014023 "ICD10:E77.8" +MONDO:0014023 "ICD10CM:E77.8" MONDO:0014023 "Orphanet:329178" MONDO:0014023 "GARD:0012416" MONDO:0014023 "UMLS:C3554385" MONDO:0014023 "OMIM:615042" MONDO:0014023 "DOID:0080571" +MONDO:0010995 "ICD10CM:G60.0" MONDO:0010995 "GARD:0001247" -MONDO:0010995 "UMLS:C0270913" MONDO:0010995 "OMIM:601098" -MONDO:0010995 "DOID:0110151" +MONDO:0010995 "UMLS:C0270913" MONDO:0010995 "Orphanet:101083" +MONDO:0010995 "DOID:0110151" MONDO:0010995 "MESH:C537984" -MONDO:0010995 "ICD10:G60.0" NCBITaxon:6033 "GC_ID:1" MONDO:0044995 "SCTID:46091002" MONDO:0024339 "GARD:0006932" @@ -24675,15 +24100,12 @@ MONDO:0010832 "MESH:C537911" MONDO:0010832 "OMIM:600151" MONDO:0010832 "OMIM:209900" MONDO:0010832 "DOID:0110125" -MONDO:0010832 "ICD10:Q87.89" MONDO:0010832 "Orphanet:110" MONDO:0010832 "UMLS:C1859564" MONDO:0001966 "DOID:14445" MONDO:0001966 "UMLS:C0154947" MONDO:0001966 "SCTID:33647009" MONDO:0001966 "ICD9:365.23" -MONDO:0001966 "ICD10:H40.22" -MONDO:0015364 "ICD10:G60.8" MONDO:0015364 "OMIM:615548" MONDO:0015364 "OMIM:614653" MONDO:0015364 "SCTID:11442006" @@ -24697,6 +24119,7 @@ MONDO:0015364 "OMIM:256860" MONDO:0015364 "OMIM:616488" MONDO:0015364 "OMIM:614213" MONDO:0015364 "MESH:D009477" +MONDO:0015364 "ICD10CM:G60.8" MONDO:0015364 "OMIM:613115" MONDO:0015364 "OMIMPS:162400" MONDO:0015364 "OMIM:310470" @@ -24712,7 +24135,6 @@ MONDO:0015364 "OMIM:201300" NCBITaxon:2701 "GC_ID:11" MONDO:0016006 "OMIM:610756" MONDO:0016006 "OMIM:278780" -MONDO:0016006 "ICD10:Q87.1" MONDO:0016006 "UMLS:C0009207" MONDO:0016006 "SCTID:21086008" MONDO:0016006 "OMIM:216400" @@ -24722,6 +24144,7 @@ MONDO:0016006 "OMIM:214150" MONDO:0016006 "MedDRA:10009835" MONDO:0016006 "Orphanet:90322" MONDO:0016006 "MESH:D003057" +MONDO:0016006 "ICD10CM:Q87.1" MONDO:0016006 "OMIM:216411" MONDO:0016006 "OMIM:610758" MONDO:0016006 "DOID:2962" @@ -24737,10 +24160,9 @@ MONDO:0009772 "OMIM:257970" MONDO:0009772 "GARD:0004050" MONDO:0009772 "MESH:C537739" MONDO:0017564 "Orphanet:295239" -MONDO:0017564 "ICD10:Q74.0" +MONDO:0017564 "ICD10CM:Q74.0" MONDO:0006654 "EFO:1000814" MONDO:0006654 "MESH:D055008" -MONDO:0006654 "ICD10:J60" MONDO:0006654 "DOID:10327" MONDO:0006654 "NCIT:C34390" MONDO:0006654 "SCTID:29422001" @@ -24767,15 +24189,15 @@ MONDO:0010080 "OMIM:500003" MONDO:0010080 "GARD:0010665" MONDO:0010080 "UMLS:CN201303" MONDO:0010080 "Orphanet:1576" -MONDO:0010080 "ICD10:G23.2" MONDO:0010080 "Orphanet:225154" -MONDO:0015201 "ICD10:Q87.8" +MONDO:0010080 "ICD10CM:G23.2" +MONDO:0015201 "ICD10CM:Q87.8" MONDO:0015201 "UMLS:CN197555" MONDO:0015201 "Orphanet:1074" HP:0012091 "UMLS:C4023048" MONDO:0008706 "UMLS:C1860167" MONDO:0008706 "MESH:C538170" -MONDO:0008706 "ICD10:K00.2" +MONDO:0008706 "ICD10CM:K00.2" MONDO:0008706 "Orphanet:2561" MONDO:0008706 "GARD:0000469" MONDO:0008706 "OMIM:200970" @@ -24783,9 +24205,9 @@ MONDO:0008706 "SCTID:722280000" MONDO:0015247 "GARD:0010009" MONDO:0015247 "Orphanet:1183" MONDO:0015247 "MedDRA:10053854" -MONDO:0015247 "ICD10:G25.3" MONDO:0015247 "NCIT:C4686" MONDO:0015247 "EFO:1001383" +MONDO:0015247 "ICD10CM:G25.3" MONDO:0015247 "UMLS:C0393626" MONDO:0015247 "ICD9:379.59" MONDO:0015247 "MESH:D053578" @@ -24797,25 +24219,24 @@ MONDO:0000911 "OMIM:613740" MONDO:0000911 "DOID:0110452" MONDO:0000911 "UMLS:C3151039" MONDO:0016950 "Orphanet:262803" -MONDO:0016603 "ICD10:E72.2" MONDO:0016603 "DOID:0070342" MONDO:0016603 "NCIT:C150603" MONDO:0016603 "OMIM:603471" MONDO:0016603 "Orphanet:247585" MONDO:0016603 "SCTID:716863007" +MONDO:0016603 "ICD10CM:E72.2" MONDO:0012629 "Orphanet:98810" MONDO:0012629 "MESH:C567001" -MONDO:0012629 "ICD10:G24.8" MONDO:0012629 "DOID:0090047" MONDO:0012629 "OMIM:611147" MONDO:0012629 "UMLS:C1970149" MONDO:0010377 "OMIM:300613" MONDO:0010377 "MESH:C564473" MONDO:0010377 "UMLS:C1845096" -MONDO:0019322 "EFO:0008613" MONDO:0019322 "MedDRA:10057053" +MONDO:0019322 "EFO:0008613" +MONDO:0019322 "ICD10CM:L10.1" MONDO:0019322 "Orphanet:79479" -MONDO:0019322 "ICD10:L10.1" MONDO:0019322 "SCTID:81285006" MONDO:0019322 "UMLS:C0263316" MONDO:0019322 "UMLS:CN205981" @@ -24824,20 +24245,18 @@ MONDO:0002874 "NCIT:C39915" MONDO:0002874 "UMLS:C1514608" MONDO:0007717 "UMLS:C1840647" MONDO:0007717 "OMIM:142309" -MONDO:0014808 "ICD10:P78.3" MONDO:0014808 "Orphanet:103908" MONDO:0014808 "DOID:0060777" MONDO:0014808 "OMIM:616868" MONDO:0014808 "UMLS:CN515063" -MONDO:0100030 "http://orcid.org/0000-0001-8486-0558" MONDO:0014992 "OMIM:617255" MONDO:0014992 "UMLS:C4310646" MONDO:0017387 "Orphanet:293202" MONDO:0017387 "UMLS:C0205944" -MONDO:0017387 "ICD10:C49.9" MONDO:0017387 "MESH:D012509" MONDO:0017387 "MedDRA:10015099" MONDO:0017387 "ONCOTREE:EPIS" +MONDO:0017387 "ICD10CM:C49.9" MONDO:0017387 "DOID:6193" MONDO:0017387 "NCIT:C3714" MONDO:0017387 "GARD:0010181" @@ -24880,7 +24299,7 @@ MONDO:0001862 "UMLS:C0153496" MONDO:0010598 "Orphanet:264580" MONDO:0010598 "DOID:0111042" MONDO:0010598 "MedDRA:10053242" -MONDO:0010598 "ICD10:E74.0" +MONDO:0010598 "ICD10CM:E74.0" MONDO:0010598 "DOID:2751" MONDO:0010598 "EFO:1000952" MONDO:0010598 "SCTID:235908005" @@ -24909,17 +24328,15 @@ MONDO:0000460 "NCIT:C111693" MONDO:0006363 "SCTID:716650003" MONDO:0006363 "NCIT:C6536" MONDO:0006363 "EFO:1000468" -MONDO:0006363 "ICD10:C45.1" MONDO:0006363 "GARD:0010777" MONDO:0006363 "UMLS:C1334818" +MONDO:0006363 "ICD10CM:C45.1" MONDO:0006363 "Orphanet:168816" MONDO:0001745 "DOID:13560" -MONDO:0001745 "ICD10:D25.2" MONDO:0001745 "UMLS:C0153995" MONDO:0001745 "SCTID:95280005" MONDO:0001745 "ICD9:218.2" MONDO:0007648 "GARD:0010900" -MONDO:0007648 "ICD10:C16.9" MONDO:0007648 "GARD:0010334" MONDO:0007648 "UMLS:C1708349" MONDO:0007648 "NCIT:C43295" @@ -24935,9 +24352,8 @@ MONDO:0019376 "MESH:D014901" MONDO:0019376 "SCTID:392662004" MONDO:0019376 "OMIM:610379" MONDO:0019376 "ICD9:066.41" -MONDO:0019376 "ICD10:A92.31" +MONDO:0019376 "ICD10CM:A92.3" MONDO:0019376 "EFO:0007545" -MONDO:0019376 "ICD10:A92.3" MONDO:0019376 "Orphanet:83476" MONDO:0019376 "GARD:0009959" HP:0001609 "UMLS:C1854348" @@ -24950,14 +24366,13 @@ MONDO:0014579 "Orphanet:3156" MONDO:8000008 "Orphanet:1387" MONDO:8000008 "MESH:C536028" MONDO:8000008 "SCTID:722380003" +MONDO:8000008 "ICD10CM:Q87.8" MONDO:8000008 "UMLS:C0796037" MONDO:8000008 "GARD:0003406" -MONDO:8000008 "ICD10:Q87.8" MONDO:8000008 "DOID:0111586" MONDO:8000008 "OMIM:212720" -MONDO:0001099 "ICD10:N64.89" -MONDO:0001099 "ICD9:611.5" MONDO:0001099 "GARD:0008401" +MONDO:0001099 "ICD9:611.5" MONDO:0001099 "SCTID:42385006" MONDO:0001099 "MESH:C535998" MONDO:0001099 "NCIT:C3515" @@ -24967,10 +24382,10 @@ MONDO:0004046 "NCIT:C6253" MONDO:0004046 "DOID:6939" MONDO:0017799 "UMLS:C0025184" MONDO:0017799 "MESH:D008539" +MONDO:0017799 "ICD10CM:D27" MONDO:0017799 "NCIT:C3223" MONDO:0017799 "Orphanet:314451" MONDO:0017799 "SCTID:63402005" -MONDO:0017799 "ICD10:D27" MONDO:0017799 "ICD9:629.89" MONDO:0017799 "MedDRA:10027139" MONDO:0006246 "EFO:1000296" @@ -24983,16 +24398,16 @@ MONDO:0045030 "UMLS:C0267436" MONDO:0024621 "NCIT:C3778" MONDO:0024621 "ICDO:8441/3" MONDO:0024621 "UMLS:C0206701" +MONDO:0013359 "ICD10CM:E26.0" MONDO:0013359 "OMIM:613677" MONDO:0013359 "GARD:0012362" MONDO:0013359 "UMLS:C3838758" MONDO:0013359 "Orphanet:251274" MONDO:0013359 "UMLS:C3150933" -MONDO:0013359 "ICD10:E26.0" MONDO:0013359 "SCTID:703234002" MONDO:0008980 "SCTID:715984007" MONDO:0008980 "DOID:0111265" -MONDO:0008980 "ICD10:G11.8" +MONDO:0008980 "ICD10CM:G11.8" MONDO:0008980 "OMIM:215470" MONDO:0008980 "Orphanet:1180" MONDO:0008980 "UMLS:C1859093" @@ -25003,8 +24418,8 @@ MONDO:0009622 "UMLS:C0796063" MONDO:0009622 "Orphanet:313795" MONDO:0010834 "Orphanet:388" MONDO:0010834 "OMIM:600156" +MONDO:0017636 "ICD10CM:G20" MONDO:0017636 "Orphanet:306669" -MONDO:0017636 "ICD10:G20" MONDO:0017636 "UMLS:CN203531" MONDO:0008958 "MESH:C536888" MONDO:0008958 "OMIM:214300" @@ -25016,9 +24431,7 @@ MONDO:0013871 "DOID:0070006" MONDO:0013871 "UMLS:C3553582" MONDO:0013871 "OMIM:614728" MONDO:0005487 "DOID:5418" -MONDO:0005487 "ICD10:F25" MONDO:0005487 "EFO:0005411" -MONDO:0005487 "ICD10:F25.9" MONDO:0005487 "ICD9:295.7" MONDO:0005487 "NCIT:C94378" MONDO:0024504 "NCIT:C4446" @@ -25028,10 +24441,10 @@ MONDO:0003790 "DOID:6166" MONDO:0003790 "NCIT:C39900" MONDO:0008863 "MESH:C537345" MONDO:0008863 "SCTID:238104009" +MONDO:0008863 "ICD10CM:E78.0" MONDO:0008863 "Orphanet:2882" MONDO:0008863 "NCIT:C125694" MONDO:0008863 "UMLS:C0342907" -MONDO:0008863 "ICD10:E78.0" MONDO:0008863 "GARD:0007653" MONDO:0008863 "OMIMPS:210250" MONDO:0008863 "MedDRA:10063985" @@ -25040,9 +24453,9 @@ MONDO:0008863 "Orphanet:101022" MONDO:0008863 "OMIMPS:215250" MONDO:0008863 "DOID:0090019" MONDO:0008175 "UMLS:C1833676" -MONDO:0008175 "ICD10:Q77.8" MONDO:0008175 "Orphanet:1952" MONDO:0008175 "GARD:0004189" +MONDO:0008175 "ICD10CM:Q77.8" MONDO:0008175 "SCTID:722127006" MONDO:0008175 "OMIM:167220" MONDO:0008175 "MESH:C538095" @@ -25051,13 +24464,11 @@ MONDO:0017166 "Orphanet:276142" MONDO:0018240 "UMLS:CN227290" MONDO:0018240 "Orphanet:364820" MONDO:0015854 "Orphanet:180182" -MONDO:0015854 "ICD10:Q83.1" MONDO:0015854 "MedDRA:10049786" MONDO:0020116 "Orphanet:98429" MONDO:0010227 "DOID:0110414" MONDO:0010227 "MESH:C564520" MONDO:0010227 "OMIM:300029" -MONDO:0010227 "ICD10:H35.5" MONDO:0010227 "UMLS:C1845667" MONDO:0010227 "Orphanet:791" MONDO:0010227 "GARD:0010381" @@ -25083,14 +24494,15 @@ MONDO:0002477 "ONCOTREE:PRNE" MONDO:0002477 "UMLS:C1335515" MONDO:0008362 "OMIM:179450" MONDO:0008362 "MESH:C566725" +NCBITaxon:6308 "GC_ID:1" MONDO:0009445 "MESH:C535727" MONDO:0009445 "Orphanet:2274" +MONDO:0009445 "ICD10CM:Q87.8" MONDO:0009445 "SCTID:403779009" MONDO:0009445 "OMIM:242520" MONDO:0009445 "GARD:0001993" MONDO:0009445 "ICD9:571.8" MONDO:0009445 "UMLS:C1275088" -MONDO:0009445 "ICD10:Q87.8" MONDO:0043009 "Orphanet:471383" MONDO:0021452 "NCIT:C3623" MONDO:0021452 "ICD9:224.4" @@ -25100,27 +24512,25 @@ MONDO:0005196 "UMLS:C0403824" MONDO:0005196 "EFO:0002625" MONDO:0005196 "SCTID:236817003" MONDO:0005196 "MP:0005578" +HP:0010280 "SNOMEDCT_US:20607006" +HP:0010280 "UMLS:C0149704" +HP:0010280 "UMLS:C0038362" +HP:0010280 "SNOMEDCT_US:61170000" +HP:0010280 "MSH:D013280" CL:0002620 "CALOHA:TS-0935" CL:0002620 "BTO:0001255" -NCBITaxon:6308 "GC_ID:1" MONDO:0014054 "DOID:0060708" MONDO:0014054 "OMIM:615122" MONDO:0014054 "UMLS:C3554540" MONDO:0014054 "Orphanet:238505" -MONDO:0014054 "ICD10:D47.9" MONDO:0010542 "SCTID:702424003" MONDO:0010542 "OMIM:302045" MONDO:0010542 "DOID:0060561" MONDO:0010542 "DOID:0110461" MONDO:0010542 "MESH:C580047" MONDO:0010542 "ICD9:425.4" -MONDO:0010542 "ICD10:I42.0" +MONDO:0010542 "ICD10CM:I42.0" MONDO:0010542 "UMLS:C3668940" -HP:0010280 "SNOMEDCT_US:20607006" -HP:0010280 "UMLS:C0149704" -HP:0010280 "UMLS:C0038362" -HP:0010280 "SNOMEDCT_US:61170000" -HP:0010280 "MSH:D013280" MONDO:0005853 "ICDO:8940/3" MONDO:0005853 "EFO:0007373" MONDO:0005853 "EFO:1000356" @@ -25128,8 +24538,8 @@ MONDO:0005853 "NCIT:C3729" MONDO:0005853 "MESH:D018198" MONDO:0005853 "UMLS:C0206625" MONDO:0005853 "DOID:154" +MONDO:0002735 "ICD10CM:C21.1" MONDO:0002735 "SCTID:764845008" -MONDO:0002735 "ICD10:C21.1" MONDO:0002735 "DOID:3692" MONDO:0002735 "UMLS:C1332259" MONDO:0002735 "HP:0030439" @@ -25139,15 +24549,15 @@ MONDO:0000306 "MESH:D060586" MONDO:0000306 "DOID:0050290" MONDO:0000306 "UMLS:C0343939" MONDO:0000306 "SCTID:240761008" -MONDO:0012721 "GARD:0002167" -MONDO:0012721 "DOID:0111446" -MONDO:0012721 "ICD10:G40.3" MONDO:0012721 "UMLS:C2673257" -MONDO:0012721 "MESH:C567095" +MONDO:0012721 "ICD10CM:G40.3" MONDO:0012721 "OMIM:611726" +MONDO:0012721 "MESH:C567095" +MONDO:0012721 "GARD:0002167" MONDO:0012721 "Orphanet:263516" +MONDO:0012721 "DOID:0111446" +MONDO:0019986 "ICD10CM:N04.8" MONDO:0019986 "Orphanet:97555" -MONDO:0019986 "ICD10:N04.8" MONDO:0019986 "UMLS:CN206920" MONDO:0008433 "SCTID:254632001" MONDO:0008433 "SCTID:254633006" @@ -25158,9 +24568,9 @@ MONDO:0008433 "UMLS:CN244903" MONDO:0008433 "MESH:D055752" MONDO:0008433 "ICD9:162.9" MONDO:0008433 "UMLS:C0262584" -MONDO:0008433 "ICD10:C34.9" MONDO:0008433 "DOID:5409" MONDO:0008433 "DOID:5411" +MONDO:0008433 "ICD10CM:C34.9" MONDO:0008433 "NCIT:C4917" MONDO:0008433 "Orphanet:70573" MONDO:0008433 "KEGG:05222" @@ -25168,11 +24578,11 @@ MONDO:0008433 "EFO:0000702" MONDO:0012096 "UMLS:C4304673" MONDO:0012096 "SCTID:719513008" MONDO:0012096 "DOID:0110174" +MONDO:0012096 "ICD10CM:G60.0" MONDO:0012096 "UMLS:C1837552" MONDO:0012096 "GARD:0012432" MONDO:0012096 "Orphanet:99945" MONDO:0012096 "OMIM:608673" -MONDO:0012096 "ICD10:G60.0" MONDO:0022893 "GARD:0001587" MONDO:0018789 "UMLS:CN776856" MONDO:0018789 "Orphanet:477762" @@ -25202,28 +24612,28 @@ MONDO:0001747 "UMLS:C0158315" MONDO:0002958 "DOID:4304" MONDO:0002958 "UMLS:C1519320" MONDO:0002958 "NCIT:C38110" -MONDO:0018626 "ICD10:A01.3" MONDO:0018626 "Orphanet:443227" +MONDO:0018626 "ICD10CM:A01.2" MONDO:0018626 "ICD9:002.1" MONDO:0018626 "NCIT:C34897" +MONDO:0018626 "ICD10CM:A01.1" MONDO:0018626 "UMLS:C0343377" MONDO:0018626 "UMLS:C0343376" -MONDO:0018626 "ICD10:A01.2" +MONDO:0018626 "ICD10CM:A01.4" MONDO:0018626 "ICD9:002.3" MONDO:0018626 "EFO:0007420" -MONDO:0018626 "ICD10:A01.1" MONDO:0018626 "UMLS:C0343375" MONDO:0018626 "MESH:D010284" MONDO:0018626 "ICD9:002.2" MONDO:0018626 "SCTID:51254007" +MONDO:0018626 "ICD10CM:A01.3" MONDO:0018626 "UMLS:C0030528" MONDO:0018626 "ICD9:002.9" -MONDO:0018626 "ICD10:A01.4" MONDO:0018626 "DOID:3055" -MONDO:0019869 "ICD10:Q92.1" MONDO:0019869 "MESH:C536796" MONDO:0019869 "Orphanet:96068" MONDO:0019869 "SCTID:764625002" +MONDO:0019869 "ICD10CM:Q92.1" MONDO:0019869 "GARD:0006085" MONDO:0013303 "OMIM:613551" MONDO:0014861 "OMIM:617006" @@ -25240,10 +24650,6 @@ MONDO:0009165 "UMLS:C0796126" MONDO:0009165 "OMIM:225750" MONDO:0009165 "GARD:0010893" CL:1001581 "CALOHA:TS-1258" -MONDO:0011692 "Orphanet:1980" -MONDO:0011692 "UMLS:C1847731" -MONDO:0011692 "MESH:C537657" -MONDO:0011692 "OMIM:606656" MONDO:0007602 "OMIM:134700" MONDO:0014744 "OMIM:616719" MONDO:0014744 "UMLS:C4225236" @@ -25255,20 +24661,18 @@ HP:0000988 "SNOMEDCT_US:271807003" HP:0000988 "MSH:D005076" HP:0000988 "MEDDRA:10037844" MONDO:0004664 "GARD:0006578" -MONDO:0004664 "ICD10:B65.B83" MONDO:0004664 "EFO:1001342" MONDO:0004664 "ICD9:128.8" MONDO:0004664 "NCIT:C84751" MONDO:0004664 "ICD9:128.9" -MONDO:0004664 "ICD10:B65-B83" MONDO:0004664 "MESH:D006373" +MONDO:0004664 "ICD10CM:B65-B83" MONDO:0004664 "ICD9:120-129.99" MONDO:0004664 "SCTID:27601005" MONDO:0004664 "UMLS:C0018889" MONDO:0004664 "DOID:883" -MONDO:0004664 "ICD10:B83.9" MONDO:0016859 "Orphanet:261579" -MONDO:0016859 "ICD10:Q10.3" +MONDO:0016859 "ICD10CM:Q10.3" MONDO:0016859 "OMIM:110100" MONDO:0016859 "UMLS:CN202202" MONDO:0024506 "OMIM:100300" @@ -25311,8 +24715,8 @@ MONDO:0015457 "GARD:0001536" MONDO:0015457 "GARD:0000852" MONDO:0015457 "MESH:C535427" MONDO:0020118 "Orphanet:98456" -MONDO:0020118 "ICD10:D69.1" MONDO:0020118 "UMLS:CN207010" +MONDO:0020118 "ICD10CM:D69.1" MONDO:0010229 "MESH:C535981" MONDO:0010229 "OMIM:300042" MONDO:0010229 "NCIT:C35790" @@ -25322,17 +24726,17 @@ MONDO:0019199 "UMLS:CN205782" MONDO:0019199 "Orphanet:79099" MONDO:0000127 "OMIM:614185" MONDO:0000127 "MedDRA:10063361" -MONDO:0000127 "ICD10:Q87.1" MONDO:0000127 "ICD9:759.89" MONDO:0000127 "SCTID:28557005" MONDO:0000127 "DOID:0111724" +MONDO:0000127 "ICD10CM:Q87.1" MONDO:0000127 "OMIM:231050" MONDO:0000127 "Orphanet:2623" MONDO:0000127 "GARD:0002449" +MONDO:0000127 "OMIM:617809" MONDO:0000127 "OMIMPS:231050" MONDO:0001685 "UMLS:C0155147" MONDO:0001685 "ICD9:372.12" -MONDO:0001685 "ICD10:H10.43" MONDO:0001685 "DOID:13326" MONDO:0001685 "SCTID:39429002" MONDO:0017331 "MESH:C537400" @@ -25356,18 +24760,17 @@ MONDO:0006069 "UMLS:C1334556" MONDO:0013390 "DOID:0110285" MONDO:0013390 "GARD:0012542" MONDO:0013390 "Orphanet:254361" +MONDO:0013390 "ICD10CM:G71.0" MONDO:0013390 "UMLS:C3150989" MONDO:0013390 "OMIM:613723" -MONDO:0013390 "ICD10:G71.0" MONDO:0007015 "ICD9:321.2" +MONDO:0007015 "ICD10CM:A87" MONDO:0007015 "DOID:10310" MONDO:0007015 "ICD9:047.9" MONDO:0007015 "NCIT:C118298" -MONDO:0007015 "ICD10:A87" MONDO:0007015 "EFO:1001236" MONDO:0007015 "MESH:D008587" MONDO:0007015 "SCTID:58170007" -MONDO:0007015 "ICD10:A87.9" MONDO:0007015 "MedDRA:10047469" MONDO:0007015 "ICD9:047.8" MONDO:0007015 "UMLS:C0025297" @@ -25381,21 +24784,21 @@ MONDO:0012818 "SCTID:609576002" MONDO:0012818 "DOID:0111107" MONDO:0012818 "GARD:0010663" MONDO:0012818 "Orphanet:552" -MONDO:0016061 "ICD10:D84.1" MONDO:0016061 "OMIM:609814" +MONDO:0016061 "ICD10CM:D84.1" MONDO:0016061 "Orphanet:200421" MONDO:0019578 "SCTID:717257000" MONDO:0019578 "UMLS:C4273968" -MONDO:0019578 "ICD10:L98.5" MONDO:0019578 "Orphanet:90393" -MONDO:0015644 "ICD10:G40.8" +MONDO:0019578 "ICD10CM:L98.5" +MONDO:0015644 "ICD10CM:G40.8" MONDO:0015644 "UMLS:C0751791" MONDO:0015644 "SCTID:765216006" MONDO:0015644 "Orphanet:166415" NCBITaxon:7162 "GC_ID:1" MONDO:0008668 "NCIT:C131685" +MONDO:0008668 "ICD10CM:D68.0" MONDO:0008668 "UMLS:C1264039" -MONDO:0008668 "ICD10:D68.0" MONDO:0008668 "Orphanet:166078" MONDO:0008668 "Orphanet:903" MONDO:0008668 "MESH:D056725" @@ -25408,16 +24811,16 @@ MONDO:0002737 "DOID:3696" MONDO:0002737 "SCTID:77478005" MONDO:0018733 "UMLS:CN242084" MONDO:0018733 "Orphanet:464311" -MONDO:0001568 "ICD10:F80.2" MONDO:0001568 "DOID:12685" MONDO:0001568 "NCIT:C92563" +MONDO:0001568 "ICD10CM:F80.2" MONDO:0001568 "ICD9:315.32" MONDO:0001568 "SCTID:25766007" MONDO:0014464 "MESH:C565624" MONDO:0014464 "GARD:0010327" MONDO:0014464 "Orphanet:431361" MONDO:0014464 "UMLS:C1857252" -MONDO:0014464 "ICD10:G31.8" +MONDO:0014464 "ICD10CM:G31.8" MONDO:0014464 "OMIM:616034" MONDO:0021313 "NCIT:C6786" MONDO:0021313 "ICD9:173.1" @@ -25434,7 +24837,7 @@ MONDO:0005057 "ICDO:8013/3" MONDO:0005057 "ONCOTREE:LUNE" MONDO:0005057 "EFO:0000563" MONDO:0005057 "DOID:0050872" -MONDO:0004944 "ICD10:A52.3" +MONDO:0004944 "ICD10CM:A52.3" MONDO:0004944 "GARD:0008729" MONDO:0004944 "DOID:9988" MONDO:0004944 "ICD9:094.9" @@ -25450,9 +24853,9 @@ MONDO:0002900 "SCTID:281560004" MONDO:0002900 "NCIT:C4826" MONDO:0002900 "UMLS:C0559458" NCBITaxon:43913 "GC_ID:1" +MONDO:0019765 "ICD10CM:Q76.7" MONDO:0019765 "ICD9:759.89" MONDO:0019765 "Orphanet:93942" -MONDO:0019765 "ICD10:Q76.7" MONDO:0019765 "SCTID:44518003" MONDO:0022034 "MESH:D016180" MONDO:0022034 "EFO:1001357" @@ -25460,17 +24863,15 @@ MONDO:0022034 "UMLS:C0079680" HP:0030012 "UMLS:C4022678" HP:0030012 "UMLS:C4020714" MONDO:0002172 "ICD9:381.5" -MONDO:0002172 "ICD10:H68.0" MONDO:0002172 "ICD9:381.50" MONDO:0002172 "UMLS:C0155428" MONDO:0002172 "DOID:2000" -MONDO:0002172 "ICD10:H68.009" -MONDO:0002172 "ICD10:H68.00" +MONDO:0002172 "ICD10CM:H68.0" MONDO:0002172 "SCTID:270491006" MONDO:0011124 "OMIM:601668" +MONDO:0011124 "ICD10CM:Q77.7" MONDO:0011124 "MESH:C566644" MONDO:0011124 "UMLS:C1866507" -MONDO:0011124 "ICD10:Q77.7" MONDO:0011124 "Orphanet:168451" MONDO:0006459 "ICDO:8583/1" MONDO:0006459 "NCIT:C6887" @@ -25478,11 +24879,10 @@ MONDO:0006459 "UMLS:C1266094" MONDO:0006459 "EFO:1000584" MONDO:0006459 "DOID:6917" MONDO:0012682 "OMIM:611521" +MONDO:0012682 "ICD10CM:D82.4" MONDO:0012682 "UMLS:C1969086" MONDO:0012682 "MESH:C566928" -MONDO:0012682 "ICD10:D82.4" MONDO:0012682 "Orphanet:331226" -MONDO:0008889 "ICD10:I73.1" MONDO:0008889 "ICD9:443.1" MONDO:0008889 "MESH:D013919" MONDO:0008889 "UMLS:C0040021" @@ -25499,20 +24899,20 @@ MONDO:0009835 "MESH:D013344" MONDO:0009835 "NCIT:C85171" MONDO:0009835 "Orphanet:2806" MONDO:0009835 "GARD:0007708" -MONDO:0009835 "ICD10:A81.1" +MONDO:0009835 "ICD10CM:A81.1" MONDO:0009835 "EFO:0007502" MONDO:0009835 "OMIM:260470" MONDO:0009835 "UMLS:C0038522" MONDO:0009835 "DOID:8970" MONDO:0007401 "UMLS:CN199608" +MONDO:0007401 "ICD10CM:Q75.0" MONDO:0007401 "MESH:C563973" MONDO:0007401 "SCTID:720813007" +MONDO:0007401 "ICD10CM:Q03.1" MONDO:0007401 "GARD:0000998" -MONDO:0007401 "ICD10:Q75.0" MONDO:0007401 "Orphanet:1538" MONDO:0007401 "OMIM:123155" MONDO:0007401 "GARD:0001592" -MONDO:0007401 "ICD10:Q03.1" MONDO:0010919 "MESH:C563458" MONDO:0010919 "UMLS:C1833487" MONDO:0010919 "OMIM:600670" @@ -25524,18 +24924,17 @@ MONDO:0017849 "MESH:C537335" CL:0000745 "BTO:0004120" MONDO:0020099 "Orphanet:98362" MONDO:0020099 "OMIMPS:300751" -MONDO:0020099 "ICD10:D64.0" -MONDO:0005526 "ICD10:A33" MONDO:0005526 "GARD:0005144" MONDO:0005526 "ICD9:037" MONDO:0005526 "MedDRA:10043376" MONDO:0005526 "DOID:11338" MONDO:0005526 "MESH:D013742" -MONDO:0005526 "ICD10:A35" +MONDO:0005526 "ICD10CM:A35" MONDO:0005526 "SCTID:276202003" MONDO:0005526 "UMLS:C0039614" +MONDO:0005526 "ICD10CM:A34" MONDO:0005526 "SCTID:76902006" -MONDO:0005526 "ICD10:A34" +MONDO:0005526 "ICD10CM:A33" MONDO:0005526 "Orphanet:3299" MONDO:0005526 "NCIT:C85185" MONDO:0005526 "EFO:0005593" @@ -25544,12 +24943,10 @@ MONDO:0021275 "UMLS:C1142491" MONDO:0021275 "NCIT:C4061" MONDO:0041167 "UMLS:C0342569" MONDO:0041167 "SCTID:237833006" -MONDO:0001160 "ICD10:F44.9" MONDO:0001160 "DOID:10935" MONDO:0001160 "NCIT:C92197" -MONDO:0001160 "ICD9:300.9" MONDO:0001160 "ICD9:300.15" -MONDO:0001160 "ICD10:F48.9" +MONDO:0001160 "ICD9:300.9" MONDO:0001160 "MESH:D004213" MONDO:0008902 "UMLS:C1859355" MONDO:0008902 "MESH:C537976" @@ -25572,8 +24969,8 @@ MONDO:0060782 "NCIT:C27274" MONDO:0060782 "UMLS:C1335471" MONDO:0019260 "OMIM:610127" MONDO:0019260 "UMLS:C0022797" -MONDO:0019260 "ICD10:E75.4" MONDO:0019260 "SCTID:62009002" +MONDO:0019260 "ICD10CM:E75.4" MONDO:0019260 "OMIM:615362" MONDO:0019260 "OMIM:204300" MONDO:0019260 "OMIM:256730" @@ -25595,24 +24992,24 @@ MONDO:0700088 "Orphanet:98810" MONDO:0700088 "GARD:0008722" MONDO:0006130 "EFO:1000158" MONDO:0006130 "NCIT:C9293" -MONDO:0001288 "ICD10:N80.4" MONDO:0001288 "UMLS:C0156346" MONDO:0001288 "SCTID:198253003" +MONDO:0001288 "ICD10CM:N80.4" MONDO:0001288 "ICD9:617.4" MONDO:0001288 "DOID:11431" MONDO:0001288 "NCIT:C128064" MONDO:0004514 "NCIT:C34479" -MONDO:0004514 "ICD10:J31.0" MONDO:0004514 "DOID:8252" MONDO:0004514 "SCTID:86094006" MONDO:0004514 "ICD9:472.0" MONDO:0004514 "UMLS:C0008711" +MONDO:0004514 "ICD10CM:J31.0" MONDO:0020286 "Orphanet:98718" MONDO:0024877 "ICD9:239.5" MONDO:0024877 "UMLS:C1263793" MONDO:0024877 "SCTID:126925009" -MONDO:0019823 "ICD10:Q25.8" MONDO:0019823 "Orphanet:95486" +MONDO:0019823 "ICD10CM:Q25.8" MONDO:0003317 "DOID:5178" MONDO:0003317 "UMLS:C1334705" MONDO:0003317 "NCIT:C38158" @@ -25624,22 +25021,22 @@ MONDO:0023662 "OMIM:619369" MONDO:0011553 "OMIM:605428" MONDO:0011553 "UMLS:C1854275" MONDO:0011553 "DOID:0110484" -MONDO:0011553 "ICD10:H90.3" MONDO:0011553 "MESH:C565329" MONDO:0044744 "SCTID:48976006" MONDO:0044744 "NCIT:C99022" MONDO:0017051 "Orphanet:268145" MONDO:0017051 "OMIM:248600" -MONDO:0017051 "ICD10:E71.0" -MONDO:0007395 "ICD10:Q87.0" +MONDO:0017051 "ICD10CM:E71.0" MONDO:0007395 "GARD:0001571" MONDO:0007395 "MESH:C536453" MONDO:0007395 "SCTID:702362004" MONDO:0007395 "ICD9:759.89" MONDO:0007395 "Orphanet:1529" MONDO:0007395 "DOID:0111336" +MONDO:0007395 "ICD10CM:Q87.0" MONDO:0007395 "OMIM:122880" NCBITaxon:28843 "GC_ID:1" +MONDO:0007571 "ICD10CM:I73.8" MONDO:0007571 "GARD:0006377" MONDO:0007571 "NCIT:C125383" MONDO:0007571 "Orphanet:306577" @@ -25647,23 +25044,22 @@ MONDO:0007571 "Orphanet:90026" MONDO:0007571 "SCTID:709489006" MONDO:0007571 "UMLS:C0014805" MONDO:0007571 "OMIM:133020" -MONDO:0007571 "ICD10:I73.8" MONDO:0012955 "OMIM:612593" MONDO:0012955 "UMLS:C2675479" MONDO:0010794 "DOID:0111273" MONDO:0010794 "UMLS:C1328349" MONDO:0010794 "MedDRA:10062940" +MONDO:0010794 "ICD10CM:G31.8" MONDO:0010794 "OMIM:551500" MONDO:0010794 "GARD:0000262" -MONDO:0010794 "ICD10:G31.8" MONDO:0010794 "Orphanet:644" MONDO:0010794 "MESH:C537396" HP:0100512 "SNOMEDCT_US:34713006" HP:0100512 "UMLS:C0042870" HP:0100512 "MSH:D014808" NCBITaxon:1335626 "GC_ID:1" -MONDO:0010639 "ICD10:J38.0" MONDO:0010639 "OMIM:308850" +MONDO:0010639 "ICD10CM:J38.0" MONDO:0010639 "Orphanet:2375" MONDO:0010639 "SCTID:724178000" MONDO:0010639 "UMLS:CN201604" @@ -25674,14 +25070,13 @@ MONDO:0020704 "OMIM:600332" MONDO:0020704 "Orphanet:97238" MONDO:0020704 "MedDRA:10069417" MONDO:0020704 "OMIM:606072" -MONDO:0020704 "ICD10:G71.8" MONDO:0019368 "Orphanet:83451" MONDO:0019368 "NCIT:C8381" +MONDO:0019368 "ICD10CM:D16.4" MONDO:0019368 "MESH:C537063" MONDO:0019368 "ICDO:9275/0" -MONDO:0019368 "ICD10:D16.5" MONDO:0019368 "UMLS:C0555197" -MONDO:0019368 "ICD10:D16.4" +MONDO:0019368 "ICD10CM:D16.5" MONDO:0019368 "GARD:0010173" MONDO:0019368 "SCTID:715634002" MONDO:0022932 "Orphanet:3215" @@ -25692,13 +25087,13 @@ MONDO:0018492 "UMLS:CN237493" MONDO:0018492 "NCIT:C36260" MONDO:0018492 "DOID:7192" MONDO:0018492 "OMIM:144700" +MONDO:0018492 "ICD10CM:C64" MONDO:0018492 "Orphanet:422526" -MONDO:0018492 "ICD10:C64" MONDO:0018492 "SCTID:764961009" MONDO:0016554 "UMLS:CN226956" MONDO:0016554 "Orphanet:238688" -MONDO:0016554 "ICD10:P72.2" MONDO:0016554 "GARD:0003025" +MONDO:0016554 "ICD10CM:P72.2" MONDO:0005001 "ICD9:535.4" MONDO:0005001 "NCIT:C26929" MONDO:0005001 "HP:0005231" @@ -25722,8 +25117,8 @@ MONDO:0045022 "ICD9:277.89" MONDO:0045022 "SCTID:116021002" MONDO:0014314 "UMLS:C3810343" MONDO:0014314 "OMIM:615709" +MONDO:0014314 "ICD10CM:Q87.5" MONDO:0014314 "Orphanet:397927" -MONDO:0014314 "ICD10:Q87.5" MONDO:0012040 "UMLS:C1838019" MONDO:0012040 "OMIM:608448" MONDO:0012040 "DOID:0110886" @@ -25733,10 +25128,10 @@ NCBITaxon:69474 "GC_ID:11" MONDO:0041052 "SCTID:2177002" MONDO:0041052 "Orphanet:466673" MONDO:0041052 "UMLS:C0032768" +MONDO:0015152 "ICD10CM:G71.0" MONDO:0015152 "OMIMPS:253600" MONDO:0015152 "MESH:C538640" MONDO:0015152 "Orphanet:102015" -MONDO:0015152 "ICD10:G71.0" MONDO:0015152 "DOID:0110274" MONDO:0015152 "UMLS:C2931907" MONDO:0012274 "OMIM:609441" @@ -25750,7 +25145,6 @@ MONDO:0019439 "UMLS:C0221014" MONDO:0019439 "SCTID:281034005" MONDO:0019439 "ICD9:277.39" MONDO:0019439 "MedDRA:10039811" -MONDO:0019439 "ICD10:E85.3" MONDO:0030355 "OMIM:619478" MONDO:0017995 "UMLS:CN204201" MONDO:0017995 "Orphanet:329252" @@ -25758,15 +25152,14 @@ MONDO:0025506 "MESH:D053570" MONDO:0025506 "UMLS:C1721016" MONDO:0012461 "OMIM:610269" NCBITaxon:740973 "GC_ID:1" -MONDO:0019930 "ICD10:Q56.1" MONDO:0019930 "UMLS:CN206847" +MONDO:0019930 "ICD10CM:Q56.1" MONDO:0019930 "OMIM:238320" MONDO:0019930 "Orphanet:96265" MONDO:0030606 "OMIM:619720" MONDO:0002033 "UMLS:C0153437" MONDO:0002033 "NCIT:C9329" MONDO:0002033 "MESH:D002430" -MONDO:0002033 "ICD10:C18.0" MONDO:0002033 "ICD9:153.4" MONDO:0002033 "DOID:1521" MONDO:0044261 "OMIM:300488" @@ -25778,7 +25171,6 @@ MONDO:0005918 "MESH:D010923" MONDO:0005918 "EFO:0007442" MONDO:0005918 "SCTID:36813001" MONDO:0005918 "NCIT:C26858" -MONDO:0005918 "ICD10:O44" MONDO:0017628 "ICD9:136.8" MONDO:0017628 "UMLS:C0027123" MONDO:0017628 "Orphanet:306553" @@ -25794,7 +25186,7 @@ MONDO:0004749 "DOID:9299" MONDO:0004749 "NCIT:C5349" MONDO:0004749 "NCIT:C4569" MONDO:0004749 "SCTID:126732009" -MONDO:0018084 "ICD10:Q24.8" +MONDO:0018084 "ICD10CM:Q24.8" MONDO:0018084 "MedDRA:10048951" MONDO:0018084 "GARD:0005393" MONDO:0018084 "OMIM:107970" @@ -25802,12 +25194,12 @@ MONDO:0018084 "MESH:C536932" MONDO:0018084 "Orphanet:3403" HP:0002244 "UMLS:C4025717" MONDO:0007174 "UMLS:C1862387" +MONDO:0007174 "ICD10CM:I45.6" MONDO:0007174 "ICD9:426.81" MONDO:0007174 "MESH:D008151" MONDO:0007174 "DOID:13087" MONDO:0007174 "UMLS:C0024054" MONDO:0007174 "OMIM:108950" -MONDO:0007174 "ICD10:I45.6" MONDO:0007174 "Orphanet:844" MONDO:0007174 "MedDRA:10024984" MONDO:0007174 "SCTID:55475008" @@ -25816,80 +25208,80 @@ HP:0001702 "EPCC:06.01.00" HP:0001702 "UMLS:C4025753" HP:0000932 "UMLS:C3280768" CL:0002222 "FMA:70950" +MONDO:0018303 "ICD10CM:G24.1" MONDO:0018303 "Orphanet:376724" -MONDO:0018303 "ICD10:G24.1" MONDO:0001138 "DOID:10846" MONDO:0001138 "ICD9:569.84" MONDO:0001138 "SCTID:235853006" MONDO:0001138 "ICD9:569.85" MONDO:0001138 "UMLS:C0267367" -MONDO:0011788 "ICD10:Q87.8" MONDO:0011788 "Orphanet:93267" MONDO:0011788 "UMLS:C1846671" MONDO:0011788 "SCTID:717771007" +MONDO:0011788 "ICD10CM:Q87.8" MONDO:0011788 "OMIM:607161" MONDO:0011788 "MESH:C564611" MONDO:0003411 "UMLS:C1511313" MONDO:0003411 "NCIT:C40396" MONDO:0003411 "DOID:5370" -MONDO:0016092 "ICD10:D27" +MONDO:0016092 "ICD10CM:D27" MONDO:0016092 "Orphanet:206470" NCBITaxon:10239 "GC_ID:1" MONDO:0019121 "SCTID:415125002" MONDO:0019121 "ICD9:136.3" -MONDO:0019121 "ICD10:B59" +MONDO:0019121 "ICD10CM:B59" MONDO:0019121 "MESH:D011020" MONDO:0019121 "DOID:11339" +MONDO:0019121 "ICD10EXP:B59+" MONDO:0019121 "GARD:0004386" MONDO:0019121 "NCIT:C3334" +MONDO:0019121 "ICD10EXP:J17.3*" MONDO:0019121 "Orphanet:723" -MONDO:0019121 "ICD10:J17.3*" -MONDO:0019121 "ICD10:B59+" MONDO:0019121 "EFO:0007448" MONDO:0019121 "UMLS:C1535939" MONDO:0015846 "Orphanet:180148" MONDO:0015846 "UMLS:CN226751" MONDO:0018271 "UMLS:C3489398" MONDO:0018271 "ICDO:9364/3" -MONDO:0018271 "ICD10:C71.9" MONDO:0018271 "Orphanet:370348" +MONDO:0018271 "ICD10CM:C71.9" MONDO:0018271 "UMLS:C0684337" MONDO:0018271 "NCIT:C9341" MONDO:0006162 "UMLS:C3272611" MONDO:0006162 "EFO:1000195" MONDO:0006162 "NCIT:C96160" MONDO:0005392 "HP:0002650" -MONDO:0005392 "ICD10:M41" +MONDO:0005392 "ICD10CM:M41" MONDO:0005392 "MESH:D012600" MONDO:0005392 "NCIT:C78603" MONDO:0005392 "ICD9:737.43" MONDO:0005392 "SCTID:298382003" MONDO:0005392 "DOID:0060249" -MONDO:0005392 "ICD10:M41.9" MONDO:0005392 "EFO:0004273" MONDO:0018798 "UMLS:CN776936" MONDO:0018798 "Orphanet:477808" MONDO:0009679 "MESH:C564985" MONDO:0009679 "OMIM:253900" -MONDO:0009679 "ICD10:M62.8" MONDO:0009679 "Orphanet:1155" MONDO:0009679 "UMLS:C1850865" +MONDO:0009679 "ICD10CM:M62.8" MONDO:0009679 "DOID:0110631" MONDO:0009679 "GARD:0000779" MONDO:0010386 "GARD:0012915" MONDO:0010386 "Orphanet:319605" MONDO:0010386 "UMLS:C1845073" MONDO:0010386 "MESH:C564468" +MONDO:0010386 "ICD10CM:D84.8" MONDO:0010386 "UMLS:C1970879" MONDO:0010386 "Orphanet:319612" -MONDO:0010386 "ICD10:D84.8" MONDO:0010386 "MESH:C567070" MONDO:0010386 "OMIM:300636" NCBITaxon:133423 "GC_ID:1" +MONDO:0044746 "ICD10CM:A20-A28" MONDO:0044746 "NCIT:C35373" MONDO:0044746 "UMLS:C0311376" +MONDO:0020451 "ICD10CM:Q26.0" MONDO:0020451 "Orphanet:99122" -MONDO:0020451 "ICD10:Q26.0" MONDO:0020451 "SCTID:62335009" MONDO:0020451 "ICD9:747.49" MONDO:0044347 "ICD9:289.9" @@ -25898,15 +25290,13 @@ MONDO:0044347 "SCTID:38292009" MONDO:0013030 "OMIM:612877" MONDO:0013030 "DOID:0110458" MONDO:0013030 "MESH:C567877" -MONDO:0013030 "ICD10:I42.0" MONDO:0013030 "UMLS:C2752072" +MONDO:0013030 "ICD10CM:I42.0" MONDO:0012957 "OMIM:612595" MONDO:0000891 "DOID:0080182" MONDO:0006794 "EFO:1000974" MONDO:0006794 "MedDRA:10020764" MONDO:0006794 "NCIT:C82863" -MONDO:0006794 "ICD10:M31.0" -MONDO:0006794 "ICD10:D69.0" MONDO:0006794 "NCIT:C35119" MONDO:0006794 "ICD9:446.29" MONDO:0006794 "SCTID:60555002" @@ -25933,14 +25323,14 @@ HP:0001872 "UMLS:C0040015" HP:0001872 "SNOMEDCT_US:127566005" HP:0001872 "UMLS:C0151854" HP:0001872 "SNOMEDCT_US:32942005" +MONDO:0100471 "SCTID:34713006" MONDO:0100471 "NCIT:C114830" -MONDO:0100471 "ICD10:E55" MONDO:0100471 "DOID:10574" -MONDO:0100471 "SNOMEDCT:34713006" MONDO:0100471 "EFO:0003762" MONDO:0100471 "UMLS:C0042870" +MONDO:0100471 "ICD10CM:E55" MONDO:0100471 "ICD9:268" -MONDO:0100471 "MeSH:D014808" +MONDO:0100471 "MESH:D014808" MONDO:0100471 "HP:0100512" MONDO:0022380 "GARD:0000523" MONDO:0010804 "OMIM:600048" @@ -25952,14 +25342,13 @@ MONDO:0013147 "OMIM:613122" MONDO:0013147 "MESH:C567733" MONDO:0013147 "UMLS:C2751084" MONDO:0013147 "DOID:0110424" -MONDO:0013147 "ICD10:I42.0" +MONDO:0013147 "ICD10CM:I42.0" MONDO:0013147 "Orphanet:154" MONDO:0003027 "UMLS:C1336748" MONDO:0003027 "DOID:4514" MONDO:0003027 "NCIT:C6043" MONDO:0013537 "Orphanet:90636" MONDO:0013537 "OMIM:614035" -MONDO:0013537 "ICD10:H90.3" MONDO:0013537 "DOID:0110487" MONDO:0013537 "UMLS:C3279660" MONDO:0000500 "UMLS:C0007137" @@ -25986,7 +25375,6 @@ MONDO:0000910 "GARD:0010377" MONDO:0000910 "DOID:0110413" MONDO:0000910 "MESH:C564065" MONDO:0000910 "UMLS:C1839368" -MONDO:0000910 "ICD10:H35.5" MONDO:0007939 "OMIM:154275" MONDO:0007939 "MESH:C535695" MONDO:0007939 "Orphanet:423" @@ -25998,27 +25386,26 @@ MONDO:0005665 "MESH:D020330" MONDO:0005665 "Orphanet:2810" MONDO:0005665 "ICD9:351.0" MONDO:0005665 "EFO:0007167" -MONDO:0005665 "ICD10:G51.0" MONDO:0005665 "UMLS:C0376175" MONDO:0005665 "SCTID:193093009" +MONDO:0005665 "ICD10CM:G51.0" MONDO:0010282 "OMIM:300259" MONDO:0012778 "OMIM:612007" +MONDO:0020548 "ICD10EXP:L12+" MONDO:0020548 "Orphanet:99922" -MONDO:0020548 "ICD10:H13.3*" +MONDO:0020548 "ICD10EXP:H13.3*" MONDO:0020548 "MedDRA:10067776" -MONDO:0020548 "ICD10:L12+" MONDO:0020548 "SCTID:34250006" MONDO:0015770 "NCIT:C120162" MONDO:0015770 "UMLS:C3899503" -MONDO:0015770 "ICD10:E23.0" +MONDO:0015770 "ICD10CM:E23.0" MONDO:0015770 "Orphanet:174590" MONDO:0015770 "SCTID:722944006" MONDO:0015449 "Orphanet:1461" MONDO:0015449 "ICD9:746.89" -MONDO:0015449 "ICD10:Q24.8" +MONDO:0015449 "ICD10CM:Q24.8" MONDO:0015449 "MESH:D003420" MONDO:0015449 "SCTID:253269002" -MONDO:0001694 "ICD10:H16.32" MONDO:0001694 "SCTID:17157001" MONDO:0001694 "ICD9:370.52" MONDO:0001694 "DOID:13353" @@ -26039,12 +25426,12 @@ MONDO:0011376 "Orphanet:228140" MONDO:0011376 "MESH:C567851" MONDO:0011376 "SCTID:233915000" MONDO:0011376 "UMLS:C2751898" -MONDO:0011376 "ICD10:I49.0" +MONDO:0011376 "ICD10CM:I49.0" MONDO:0014024 "OMIM:615043" MONDO:0014024 "UMLS:C2680446" MONDO:0014024 "SCTID:764736001" -MONDO:0014024 "ICD10:G11.4" MONDO:0014024 "Orphanet:320370" +MONDO:0014024 "ICD10CM:G11.4" MONDO:0014024 "DOID:0110795" MONDO:0010996 "GARD:0009902" MONDO:0010996 "MESH:C537140" @@ -26061,7 +25448,6 @@ HP:0004370 "UMLS:C1832160" CL:0000499 "FMA:83624" CL:0000499 "BTO:0002064" MONDO:0017136 "OMIM:258315" -MONDO:0017136 "ICD10:Q78.8" MONDO:0017136 "MESH:C567664" MONDO:0017136 "SCTID:725164008" MONDO:0017136 "DOID:0060288" @@ -26070,16 +25456,16 @@ MONDO:0017136 "OMIMPS:258315" MONDO:0017136 "UMLS:C4510897" MONDO:0017136 "UMLS:C1850318" MONDO:0017136 "OMIM:164745" +MONDO:0017136 "ICD10CM:Q78.8" MONDO:0013819 "Orphanet:1465" MONDO:0013819 "DOID:0070044" MONDO:0013819 "UMLS:C3553247" MONDO:0013819 "OMIM:614607" HP:0030674 "UMLS:C2673646" MONDO:0014180 "OMIM:615425" -MONDO:0014180 "ICD10:Q81.0" MONDO:0014180 "UMLS:C3809470" +MONDO:0014180 "ICD10CM:Q81.0" MONDO:0014180 "Orphanet:412181" -MONDO:0001303 "ICD10:H57.09" MONDO:0001303 "DOID:11518" MONDO:0001303 "HP:0007686" MONDO:0001303 "ICD9:379.49" @@ -26092,11 +25478,11 @@ MONDO:0043555 "SCTID:39963006" MONDO:0019774 "Orphanet:93970" MONDO:0019774 "UMLS:CN206715" MONDO:0019774 "OMIM:309580" -MONDO:0019774 "ICD10:Q87.0" -MONDO:0017494 "ICD10:Q71.1" +MONDO:0019774 "ICD10CM:Q87.0" +MONDO:0017494 "ICD10CM:Q71.1" MONDO:0017494 "Orphanet:295085" MONDO:0016124 "Orphanet:206985" -MONDO:0018577 "ICD10:Q82.8" +MONDO:0018577 "ICD10CM:Q82.8" MONDO:0018577 "UMLS:CN237597" MONDO:0018577 "Orphanet:436274" NCBITaxon:1300 "GC_ID:11" @@ -26104,9 +25490,9 @@ MONDO:0006468 "SCTID:255031003" MONDO:0006468 "DOID:0080522" MONDO:0006468 "EFO:1000595" MONDO:0006468 "NCIT:C3878" -MONDO:0006468 "ICD10:C73" MONDO:0006468 "GARD:0000664" MONDO:0006468 "Orphanet:142" +MONDO:0006468 "ICD10CM:C73" MONDO:0006468 "ONCOTREE:THAP" MONDO:0006468 "MESH:D065646" MONDO:0006468 "HP:0011779" @@ -26117,12 +25503,12 @@ MONDO:0005214 "SCTID:254897006" MONDO:0005214 "EFO:0002920" MONDO:0005214 "NCIT:C40317" MONDO:0005214 "UMLS:C0238525" -MONDO:0008371 "ICD10:L81.8" MONDO:0008371 "MedDRA:10068651" MONDO:0008371 "OMIM:179850" MONDO:0008371 "SCTID:239133004" MONDO:0008371 "MESH:C562924" MONDO:0008371 "DOID:0060256" +MONDO:0008371 "ICD10CM:L81.8" MONDO:0008371 "GARD:0009775" MONDO:0008371 "OMIM:615674" MONDO:0008371 "OMIM:615696" @@ -26144,17 +25530,17 @@ MONDO:0000032 "OMIMPS:121210" MONDO:0004319 "DOID:7651" MONDO:0004319 "NCIT:C40439" MONDO:0004319 "UMLS:C1518736" +MONDO:0015365 "ICD10CM:G60.8" MONDO:0015365 "UMLS:CN228932" -MONDO:0015365 "ICD10:G60.8" MONDO:0015365 "Orphanet:140474" NCBITaxon:2702 "GC_ID:11" NCBITaxon:2702 "PMID:14361525" NCBITaxon:2702 "PMID:8782675" MONDO:0016007 "ICD9:760.75" MONDO:0016007 "UMLS:C0432371" +MONDO:0016007 "ICD10CM:Q86.8" MONDO:0016007 "Orphanet:1911" MONDO:0016007 "SCTID:254250002" -MONDO:0016007 "ICD10:Q86.8" MONDO:0016007 "GARD:0001413" MONDO:0007718 "UMLS:C1840646" MONDO:0007718 "MESH:C564190" @@ -26163,12 +25549,12 @@ MONDO:0007718 "DOID:0111366" MONDO:0009773 "SCTID:403762003" MONDO:0009773 "OMIM:257980" MONDO:0009773 "MESH:C537742" -MONDO:0009773 "ICD10:Q82.4" MONDO:0009773 "UMLS:C0796093" MONDO:0009773 "Orphanet:2721" MONDO:0009773 "GARD:0004054" +MONDO:0009773 "ICD10CM:Q82.4" MONDO:0017565 "Orphanet:295241" -MONDO:0017565 "ICD10:Q74.0" +MONDO:0017565 "ICD10CM:Q74.0" MONDO:0006655 "EFO:1000815" MONDO:0006655 "UMLS:C0003505" MONDO:0006655 "MedDRA:10057454" @@ -26177,6 +25563,7 @@ MONDO:0006655 "MESH:D001023" NCBITaxon:1913638 "PMID:27738200" NCBITaxon:1913638 "GC_ID:1" MONDO:0018076 "ICD9:017.96" +MONDO:0018076 "ICD10CM:A15-A19" MONDO:0018076 "MESH:D014376" MONDO:0018076 "NCIT:C3423" MONDO:0018076 "ICD9:017.94" @@ -26190,7 +25577,6 @@ MONDO:0018076 "GARD:0007827" MONDO:0018076 "ICD9:017.90" MONDO:0018076 "UMLS:C0151332" MONDO:0018076 "UMLS:C0041296" -MONDO:0018076 "ICD10:A15.A19" MONDO:0010081 "OMIM:271950" MONDO:0010081 "Orphanet:3092" MONDO:0010081 "MESH:C564793" @@ -26200,17 +25586,16 @@ MONDO:0013539 "UMLS:C3279662" MONDO:0013539 "Orphanet:79507" MONDO:0013539 "OMIM:614037" MONDO:0013539 "SCTID:717185008" -MONDO:0002243 "ICD10:D69.9" MONDO:0002243 "NCIT:C115221" MONDO:0002243 "MESH:D006474" MONDO:0002243 "DOID:2213" +MONDO:0002243 "ICD10CM:D65-D69" MONDO:0002243 "ICD9:287.9" -MONDO:0001473 "ICD10:E27.5" MONDO:0001473 "SCTID:111565003" MONDO:0001473 "ICD9:255.6" MONDO:0001473 "UMLS:C0154206" MONDO:0001473 "DOID:12257" -MONDO:0018943 "ICD10:G71.8" +MONDO:0018943 "ICD10CM:G71.8" MONDO:0018943 "ICD9:359.89" MONDO:0018943 "HP:0003715" MONDO:0018943 "Orphanet:593" @@ -26221,16 +25606,16 @@ MONDO:0018943 "OMIMPS:601419" MONDO:0018943 "MESH:C580316" MONDO:0018943 "UMLS:C2678065" MONDO:0018943 "DOID:0080307" -MONDO:0008707 "ICD10:Q87.8" MONDO:0008707 "UMLS:C1860166" MONDO:0008707 "GARD:0000480" MONDO:0008707 "SCTID:720414005" MONDO:0008707 "Orphanet:958" MONDO:0008707 "MESH:C535665" MONDO:0008707 "OMIM:200980" +MONDO:0008707 "ICD10CM:Q87.8" MONDO:0015248 "Orphanet:1184" MONDO:0015248 "UMLS:CN237421" -MONDO:0017880 "ICD10:A92.4" +MONDO:0017880 "ICD10CM:A92.4" MONDO:0017880 "Orphanet:319251" MONDO:0017880 "DOID:1328" MONDO:0017880 "NCIT:C128419" @@ -26245,9 +25630,9 @@ MONDO:0002289 "DOID:240" MONDO:0002289 "MESH:D007499" MONDO:0002289 "NCIT:C34737" MONDO:0002289 "UMLS:C0022078" +MONDO:0002289 "ICD10CM:H15-H22" MONDO:0002289 "SCTID:85478004" MONDO:0000912 "DOID:0110507" -MONDO:0000912 "ICD10:H90.3" MONDO:0000912 "UMLS:C1833319" MONDO:0000912 "OMIM:600792" MONDO:0000912 "MESH:C563444" @@ -26257,10 +25642,11 @@ MONDO:0013702 "Orphanet:88616" MONDO:0013702 "OMIM:614340" MONDO:0019323 "EFO:0008603" MONDO:0019323 "Orphanet:79480" -MONDO:0019323 "ICD10:L10.4" +MONDO:0019323 "ICD10CM:L10.4" MONDO:0019323 "UMLS:C0263312" MONDO:0019323 "SCTID:36739006" MONDO:0019323 "MedDRA:10058917" +MONDO:0002875 "ICD10CM:B85-B89" MONDO:0002875 "DOID:4110" MONDO:0002875 "UMLS:C0013578" MONDO:0002875 "MESH:D004478" @@ -26285,17 +25671,17 @@ MONDO:0014993 "OMIM:617258" MONDO:0014993 "UMLS:C4310645" MONDO:0014993 "DOID:0080308" MONDO:0019377 "Orphanet:83482" -MONDO:0019377 "ICD10:B96.0" +MONDO:0019377 "ICD10CM:B96.0" MONDO:0030293 "OMIM:619361" MONDO:0019206 "UMLS:CN205797" MONDO:0019206 "Orphanet:79132" -MONDO:0001863 "ICD10:Q25.2" +MONDO:0001863 "ICD10CM:Q25.2" MONDO:0001863 "SCTID:204431007" MONDO:0001863 "DOID:14037" MONDO:0001863 "ICD9:747.22" MONDO:0010998 "MESH:C535742" -MONDO:0010998 "ICD10:E77.8" MONDO:0010998 "DOID:0080556" +MONDO:0010998 "ICD10CM:E77.8" MONDO:0010998 "UMLS:C1832736" MONDO:0010998 "Orphanet:79321" MONDO:0010998 "OMIM:601110" @@ -26324,7 +25710,7 @@ MONDO:0020664 "NCIT:C27263" MONDO:0010835 "Orphanet:2988" MONDO:0010835 "UMLS:C1838562" MONDO:0010835 "MESH:C535831" -MONDO:0010835 "ICD10:Q87.0" +MONDO:0010835 "ICD10CM:Q87.0" MONDO:0010835 "OMIM:600159" MONDO:0010835 "SCTID:719256004" MONDO:0010835 "GARD:0004568" @@ -26338,50 +25724,46 @@ MONDO:0016398 "Orphanet:225686" MONDO:0016398 "UMLS:CN201329" MONDO:0001746 "UMLS:C0029128" MONDO:0001746 "DOID:13561" -MONDO:0001746 "ICD10:H47.32" MONDO:0001746 "MESH:D015594" MONDO:0001746 "SCTID:33629003" MONDO:0001746 "ICD9:377.21" MONDO:0007649 "OMIM:137220" MONDO:0004860 "ICD9:379.24" -MONDO:0004860 "ICD10:H43.3" -MONDO:0004860 "ICD10:H43.39" MONDO:0004860 "DOID:9720" NCBITaxon:11308 "GC_ID:1" MONDO:0009740 "Orphanet:2673" +MONDO:0009740 "ICD10CM:Q87.8" MONDO:0009740 "MESH:C537388" -MONDO:0009740 "ICD10:Q87.8" MONDO:0009740 "GARD:0003964" MONDO:0009740 "UMLS:C0796088" MONDO:0009740 "SCTID:725908007" MONDO:0009740 "OMIM:256690" MONDO:0017754 "Orphanet:309813" -MONDO:0017754 "ICD10:E80.2" +MONDO:0017754 "ICD10CM:E80.2" MONDO:0017754 "UMLS:C1275125" -MONDO:0017754 "ICD10:E80.3" -MONDO:0017754 "ICD10:E80.0" -MONDO:0017754 "ICD10:E80.4" -MONDO:0017754 "ICD10:E80.5" +MONDO:0017754 "ICD10CM:E80.3" +MONDO:0017754 "ICD10CM:E80.0" +MONDO:0017754 "ICD10CM:E80.5" +MONDO:0017754 "ICD10CM:E80.4" +MONDO:0017754 "ICD10CM:E80.6" +MONDO:0017754 "ICD10CM:E80.7" MONDO:0017754 "SCTID:403832004" -MONDO:0017754 "ICD10:E80.7" -MONDO:0017754 "ICD10:E80.6" -MONDO:0017754 "ICD10:E80.1" +MONDO:0017754 "ICD10CM:E80.1" MONDO:0032890 "OMIM:618733" -MONDO:0015480 "ICD10:Q10.3" MONDO:0015480 "Orphanet:155884" +MONDO:0015480 "ICD10CM:Q10.3" MONDO:0015480 "SCTID:763132003" MONDO:0012470 "UMLS:C1853195" MONDO:0012470 "MESH:C565201" MONDO:0012470 "OMIM:610321" -MONDO:0032796 "OMIM:618523" -MONDO:0032796 "DOID:0080596" MONDO:0002350 "OMIMPS:256300" MONDO:0002350 "DOID:2590" MONDO:0002350 "SCTID:48796009" MONDO:0002350 "NCIT:C35337" MONDO:0002350 "UMLS:CN043611" -MONDO:0002350 "ICD10:N04" MONDO:0002350 "UMLS:C3501848" +MONDO:0032796 "OMIM:618523" +MONDO:0032796 "DOID:0080596" MONDO:0024622 "DOID:0080524" MONDO:0024622 "NCIT:C27380" NCBITaxon:11623 "GC_ID:1" @@ -26390,15 +25772,15 @@ MONDO:0008981 "MESH:C535357" MONDO:0008981 "UMLS:C1859092" MONDO:0008981 "GARD:0001313" MONDO:0008981 "OMIM:215480" +MONDO:0008981 "ICD10CM:G93.8" MONDO:0008981 "SCTID:724228005" -MONDO:0008981 "ICD10:G93.8" MONDO:0009623 "UMLS:C0398791" MONDO:0009623 "MedDRA:10067857" MONDO:0009623 "SCTID:234638009" MONDO:0009623 "Orphanet:647" -MONDO:0009623 "ICD10:Q87.8" MONDO:0009623 "UMLS:CN860323" MONDO:0009623 "GARD:0003904" +MONDO:0009623 "ICD10CM:Q87.8" MONDO:0009623 "NCIT:C4692" MONDO:0009623 "OMIM:251260" MONDO:0009623 "MESH:D049932" @@ -26411,7 +25793,6 @@ MONDO:0003279 "UMLS:C0392041" MONDO:0017637 "Orphanet:306679" MONDO:0017637 "UMLS:CN203533" NCBITaxon:1280412 "GC_ID:1" -MONDO:0021191 "UMLS_CUI:C1333407" MONDO:0021191 "DOID:5074" MONDO:0002478 "UMLS:C1321220" MONDO:0002478 "DOID:2996" @@ -26422,24 +25803,22 @@ MONDO:0021453 "ICD9:224.5" MONDO:0021453 "SCTID:92321003" MONDO:0024505 "UMLS:C1290853" MONDO:0024505 "SCTID:123946008" -MONDO:0020256 "ICD10:H49.1" MONDO:0020256 "Orphanet:98686" +MONDO:0020256 "ICD10CM:H49.1" MONDO:0008176 "UMLS:C4085252" MONDO:0008176 "OMIM:167250" MONDO:0008176 "GARD:0004191" MONDO:0017167 "Orphanet:276145" -MONDO:0017167 "ICD10:C08.0" +MONDO:0017167 "ICD10CM:C07" MONDO:0017167 "UMLS:CN202591" -MONDO:0017167 "ICD10:C08.8" -MONDO:0017167 "ICD10:C07" -MONDO:0017167 "ICD10:C08.1" +MONDO:0017167 "ICD10CM:C08.1" +MONDO:0017167 "ICD10CM:C08.0" MONDO:0018241 "UMLS:CN204780" -MONDO:0018241 "ICD10:Q41.0" +MONDO:0018241 "ICD10CM:Q41.0" MONDO:0018241 "Orphanet:365563" MONDO:0015855 "OMIM:616001" MONDO:0015855 "OMIMPS:113700" MONDO:0015855 "OMIM:113700" -MONDO:0015855 "ICD10:Q83.0" MONDO:0015855 "Orphanet:180188" MONDO:0001518 "SCTID:20828000" MONDO:0001518 "UMLS:C0155190" @@ -26452,12 +25831,12 @@ MONDO:0002549 "UMLS:C1335928" MONDO:0022894 "GARD:0001588" MONDO:0016604 "Orphanet:2476" MONDO:0016604 "UMLS:CN201798" -MONDO:0016604 "ICD10:Q00.0" MONDO:0016604 "GARD:0003438" +MONDO:0016604 "ICD10CM:Q00.0" MONDO:0013704 "OMIM:614342" MONDO:0013704 "Orphanet:88616" MONDO:0013704 "UMLS:C3280540" -MONDO:0007237 "ICD10:N62" +MONDO:0007237 "ICD10CM:N62" MONDO:0007237 "UMLS:CN226754" MONDO:0007237 "MESH:C536821" MONDO:0007237 "Orphanet:180176" @@ -26479,8 +25858,7 @@ MONDO:0011320 "UMLS:C1863881" MONDO:0011320 "Orphanet:3268" MONDO:0011320 "GARD:0000394" MONDO:0011320 "OMIM:603438" -MONDO:0002959 "ICD10:M54.10" -MONDO:0002959 "ICD10:M54.1" +MONDO:0002959 "ICD10CM:M54.1" MONDO:0002959 "SCTID:72274001" MONDO:0002959 "UMLS:C0700594" MONDO:0002959 "DOID:4306" @@ -26501,7 +25879,6 @@ MONDO:0005854 "MedDRA:10027754" MONDO:0005854 "NCIT:C84892" MONDO:0005854 "GARD:0007051" MONDO:0005854 "DOID:3492" -MONDO:0005854 "ICD10:M35.1" MONDO:0005854 "EFO:0007374" MONDO:0005854 "UMLS:C0026272" MONDO:0003153 "NCIT:C9091" @@ -26509,7 +25886,6 @@ MONDO:0003153 "DOID:4813" MONDO:0003153 "UMLS:C0278873" MONDO:0017388 "Orphanet:293208" MONDO:0017388 "UMLS:CN203119" -MONDO:0017388 "ICD10:I77.4" MONDO:0002736 "DOID:3693" MONDO:0002736 "NCIT:C27416" MONDO:0002736 "UMLS:C1332248" @@ -26524,14 +25900,14 @@ MONDO:0022926 "MESH:C535768" MONDO:0022926 "GARD:0000236" MONDO:0016470 "MESH:C565178" MONDO:0016470 "Orphanet:230857" +MONDO:0016470 "ICD10CM:Q79.6" MONDO:0016470 "UMLS:CN201460" -MONDO:0016470 "ICD10:Q79.6" MONDO:0016470 "OMIMPS:619115" MONDO:0019987 "Orphanet:97556" MONDO:0013460 "UMLS:C3151433" +MONDO:0013460 "ICD10CM:Q78.0" MONDO:0013460 "OMIM:613849" MONDO:0013460 "Orphanet:216820" -MONDO:0013460 "ICD10:Q78.0" MONDO:0013460 "DOID:0110348" MONDO:0003340 "ICDO:8711/3" MONDO:0003340 "ONCOTREE:MGST" @@ -26548,16 +25924,16 @@ MONDO:0013139 "UMLS:C2751288" MONDO:0013139 "MESH:C567748" MONDO:0007970 "GARD:0009474" MONDO:0007970 "UMLS:C0025239" -MONDO:0007970 "SCTID:44697002" MONDO:0007970 "NCIT:C84887" -MONDO:0007970 "ICD10:M85.8" +MONDO:0007970 "SCTID:44697002" MONDO:0007970 "MedDRA:10050284" MONDO:0007970 "MESH:D008557" MONDO:0007970 "OMIM:155950" MONDO:0007970 "DOID:4253" MONDO:0007970 "ICD9:756.89" MONDO:0007970 "Orphanet:2485" -MONDO:0014276 "ICD10:D81.2" +MONDO:0007970 "ICD10CM:M85.8" +MONDO:0014276 "ICD10CM:D81.2" MONDO:0014276 "SCTID:725135004" MONDO:0014276 "DOID:0060018" MONDO:0014276 "OMIM:615607" @@ -26571,8 +25947,8 @@ MONDO:0010764 "UMLS:C3888076" NCBITaxon:6286 "GC_ID:1" NCBITaxon:70426 "GC_ID:1" MONDO:0012964 "Orphanet:1596" -MONDO:0012964 "ICD10:Q93.5" MONDO:0012964 "MESH:C567232" +MONDO:0012964 "ICD10CM:Q93.5" MONDO:0012964 "OMIM:612626" MONDO:0012964 "UMLS:C2675463" MONDO:0012964 "SCTID:766050000" @@ -26606,11 +25982,11 @@ MONDO:0019072 "Orphanet:69665" MONDO:0019072 "EFO:0009048" MONDO:0019072 "GARD:9804" MONDO:0019072 "Orphanet:172" +MONDO:0019072 "ICD10CM:O26.6" MONDO:0019072 "OMIM:605479" MONDO:0019072 "Orphanet:65682" MONDO:0019072 "OMIM:615878" MONDO:0019072 "DOID:0070227" -MONDO:0019072 "ICD10:O26.6" MONDO:0019072 "OMIM:601847" MONDO:0019072 "NCIT:C84400" MONDO:0019072 "SCTID:235888006" @@ -26622,20 +25998,21 @@ MONDO:0019072 "OMIM:211600" MONDO:0019072 "OMIM:243300" MONDO:0019072 "OMIM:614972" MONDO:0019072 "GARD:0009804" +MONDO:0010291 "OMIM:300274" MONDO:0020119 "OMIMPS:309510" MONDO:0020119 "Orphanet:98464" MONDO:0020119 "DOID:0060309" +MONDO:0015458 "ICD10CM:Q87.8" MONDO:0015458 "Orphanet:1495" MONDO:0015458 "SCTID:722455002" MONDO:0015458 "UMLS:CN199578" MONDO:0015458 "GARD:0012487" -MONDO:0015458 "ICD10:Q87.8" MONDO:0009166 "UMLS:C1856974" MONDO:0009166 "OMIM:225753" MONDO:0009166 "MESH:C536716" -MONDO:0009166 "ICD10:Q04.3" MONDO:0009166 "GARD:0000343" MONDO:0009166 "SCTID:718608006" +MONDO:0009166 "ICD10CM:Q04.3" MONDO:0009166 "Orphanet:166063" MONDO:0009166 "DOID:0060273" MONDO:0011693 "OMIM:606657" @@ -26648,10 +26025,10 @@ MONDO:0000128 "NCIT:C84728" MONDO:0000128 "ICD9:349.89" MONDO:0001686 "ICD9:365.02" MONDO:0001686 "DOID:13327" +MONDO:0002328 "ICD10CM:D18.02" MONDO:0002328 "ICD9:228.02" MONDO:0002328 "UMLS:C0154050" MONDO:0002328 "NCIT:C3633" -MONDO:0002328 "ICD10:D18.02" MONDO:0002328 "DOID:2517" MONDO:0002328 "SCTID:93468003" MONDO:0003886 "DOID:6468" @@ -26666,9 +26043,8 @@ MONDO:0007603 "UMLS:C0015773" MONDO:0007603 "ICD9:714.1" MONDO:0007603 "GARD:0008234" MONDO:0007603 "DOID:11042" -MONDO:0007603 "ICD10:M05.00" MONDO:0007603 "MedDRA:10016386" -MONDO:0007603 "ICD10:M05.0" +MONDO:0007603 "ICD10CM:M05.0" MONDO:0007603 "SCTID:57160007" MONDO:0008959 "UMLS:CN199447" MONDO:0008959 "OMIM:214350" @@ -26692,11 +26068,11 @@ MONDO:0012819 "EFO:1000897" MONDO:0012819 "UMLS:C0011880" MONDO:0012819 "SCTID:420422005" MONDO:0012819 "NCIT:C50530" +MONDO:0016062 "ICD10CM:Q36.1" MONDO:0016062 "Orphanet:2006" MONDO:0016062 "SCTID:723383005" -MONDO:0016062 "ICD10:Q36.1" +MONDO:0019579 "ICD10CM:L98.5" MONDO:0019579 "SCTID:717258005" -MONDO:0019579 "ICD10:L98.5" MONDO:0019579 "UMLS:C4273967" MONDO:0019579 "Orphanet:90394" MONDO:0024507 "Orphanet:250923" @@ -26707,9 +26083,9 @@ MONDO:0000284 "DOID:0050201" MONDO:0000284 "UMLS:C0242993" MONDO:0006844 "MESH:D008275" MONDO:0006844 "UMLS:C0024473" -MONDO:0006844 "ICD10:E61.2" MONDO:0006844 "SCTID:238118002" MONDO:0006844 "EFO:1001029" +MONDO:0006844 "ICD10CM:E61.2" MONDO:0006844 "MedDRA:10025433" MONDO:0100220 "OMIM:619013" HP:0000074 "UMLS:C0521619" @@ -26743,10 +26119,10 @@ MONDO:0010543 "NCIT:C84585" MONDO:0010543 "Orphanet:111" MONDO:0010543 "MESH:D056889" MONDO:0010543 "GARD:0005890" -MONDO:0010543 "ICD10:E71.1" MONDO:0010543 "UMLS:C0574083" MONDO:0010543 "DOID:0050476" -MONDO:0010543 "ICD10:E78.71" +MONDO:0010543 "ICD10CM:E78.71" +MONDO:0010543 "ICD10CM:E71.1" MONDO:0010543 "OMIM:302060" MONDO:0015007 "Orphanet:521390" MONDO:0015007 "OMIM:617296" @@ -26757,61 +26133,59 @@ MONDO:0002738 "ICD9:381.0" MONDO:0002738 "SCTID:359609001" MONDO:0002738 "ICD9:381.00" MONDO:0002738 "UMLS:C2939185" -CL:0000746 "BTO:0001539" CL:0000746 "CALOHA:TS-0115" +CL:0000746 "BTO:0001539" CL:0000746 "FMA:14067" MONDO:0015374 "Orphanet:140989" MONDO:0015374 "GARD:0008703" -MONDO:0015374 "ICD10:I67.7" MONDO:0015374 "MESH:C537295" +MONDO:0015374 "ICD10CM:I67.7" MONDO:0014465 "DOID:0110624" -MONDO:0014465 "ICD10:Q34.8" MONDO:0014465 "OMIM:616037" MONDO:0014465 "Orphanet:244" MONDO:0014465 "UMLS:C4015016" MONDO:0016320 "UMLS:C2584620" MONDO:0016320 "Orphanet:217454" +MONDO:0011281 "Orphanet:98915" +MONDO:0011281 "NCIT:C129304" +MONDO:0011281 "Orphanet:590" +MONDO:0011281 "OMIM:603034" +MONDO:0011281 "MESH:C566415" +MONDO:0011281 "UMLS:C1864233" +MONDO:0011281 "DOID:0110667" MONDO:0005058 "EFO:0000564" MONDO:0005058 "NCIT:C3158" -MONDO:0005058 "OMIM:613488" MONDO:0005058 "ICDO:8890/3" MONDO:0005058 "ONCOTREE:LMS" MONDO:0005058 "MedDRA:10024189" +MONDO:0005058 "ICD10CM:C49.9" MONDO:0005058 "DOID:1967" MONDO:0005058 "SCTID:443719001" MONDO:0005058 "MESH:D007890" -MONDO:0005058 "ICD10:C49.9" MONDO:0005058 "GARD:0006880" MONDO:0005058 "UMLS:C0023269" MONDO:0005058 "ICD9:171.9" MONDO:0005058 "Orphanet:64720" -MONDO:0011281 "Orphanet:98915" -MONDO:0011281 "NCIT:C129304" -MONDO:0011281 "Orphanet:590" -MONDO:0011281 "OMIM:603034" -MONDO:0011281 "MESH:C566415" -MONDO:0011281 "UMLS:C1864233" -MONDO:0011281 "DOID:0110667" MONDO:0001161 "NCIT:C92631" -MONDO:0001161 "ICD10:F60.1" MONDO:0001161 "ICD9:301.2" MONDO:0001161 "SCTID:52954000" MONDO:0001161 "ICD9:301.20" MONDO:0001161 "MESH:D012557" +MONDO:0001161 "ICD10CM:F60.1" MONDO:0001161 "DOID:10936" MONDO:0002901 "DOID:4176" MONDO:0002901 "UMLS:C0005806" MONDO:0002901 "CSP:0440-3703" -MONDO:0008434 "Orphanet:819" -MONDO:0008434 "MESH:D058496" -MONDO:0008434 "GARD:0008197" +MONDO:0008434 "NCIT:C75469" MONDO:0008434 "OMIM:182290" +MONDO:0008434 "ICD9:758.33" +MONDO:0008434 "ICD10CM:Q93.5" +MONDO:0008434 "GARD:0008197" MONDO:0008434 "DOID:0060768" +MONDO:0008434 "MESH:D058496" MONDO:0008434 "UMLS:C0795864" -MONDO:0008434 "ICD9:758.33" -MONDO:0008434 "NCIT:C75469" -MONDO:0008434 "ICD10:Q93.5" MONDO:0008434 "SCTID:401315004" +MONDO:0008434 "Orphanet:819" MONDO:0012097 "UMLS:C1837549" MONDO:0012097 "GARD:0009703" MONDO:0012097 "OMIM:608681" @@ -26824,7 +26198,7 @@ MONDO:0011125 "OMIM:601675" MONDO:0011125 "Orphanet:670" MONDO:0024878 "UMLS:C0085668" MONDO:0024878 "NCIT:C36310" -MONDO:0012683 "ICD10:Q04.3" +MONDO:0012683 "ICD10CM:Q04.3" MONDO:0012683 "OMIM:611523" MONDO:0012683 "MESH:C548074" MONDO:0012683 "GARD:0010710" @@ -26848,7 +26222,6 @@ MONDO:0013304 "Orphanet:166081" MONDO:0013304 "Orphanet:166093" MONDO:0013304 "Orphanet:166084" MONDO:0013304 "MESH:D056728" -MONDO:0013304 "ICD10:D68.0" MONDO:0013304 "UMLS:C1282971" MONDO:0013304 "Orphanet:903" MONDO:0013304 "Orphanet:166087" @@ -26857,13 +26230,14 @@ MONDO:0013304 "UMLS:C1282974" MONDO:0013304 "UMLS:C1282968" MONDO:0013304 "OMIM:613554" MONDO:0013304 "UMLS:C1264040" +MONDO:0013304 "ICD10CM:D68.0" MONDO:0013304 "UMLS:C1282975" MONDO:0014862 "UMLS:C4310767" MONDO:0014862 "OMIM:617008" MONDO:0017052 "SCTID:405287008" MONDO:0017052 "OMIM:615135" +MONDO:0017052 "ICD10CM:E71.0" MONDO:0017052 "Orphanet:268162" -MONDO:0017052 "ICD10:E71.0" MONDO:0017052 "OMIM:248600" HP:0001881 "UMLS:C0152009" HP:0001881 "SNOMEDCT_US:134199001" @@ -26873,15 +26247,12 @@ MONDO:0009016 "UMLS:C0155120" MONDO:0009016 "SCTID:35055000" MONDO:0009016 "NCIT:C118765" MONDO:0009016 "ICD9:371.43" -MONDO:0009016 "ICD10:H18.42" MONDO:0009016 "OMIM:217500" MONDO:0009016 "DOID:11164" MONDO:0021276 "UMLS:C1332641" MONDO:0021276 "SCTID:448147005" MONDO:0021276 "ICD9:210.4" MONDO:0021276 "NCIT:C5819" -MONDO:0008903 "ICD10:C34.1" -MONDO:0008903 "ICD10:C34.2" MONDO:0008903 "OMIM:211980" MONDO:0008903 "NCIT:C7377" MONDO:0008903 "ICD9:162.8" @@ -26892,7 +26263,6 @@ MONDO:0008903 "OMIM:612593" MONDO:0008903 "ICD9:162.4" MONDO:0008903 "DOID:1324" MONDO:0008903 "UMLS:C0152013" -MONDO:0008903 "ICD10:C34.3" MONDO:0008903 "SCTID:363358000" MONDO:0008903 "ICD9:162.5" MONDO:0008903 "OMIM:608935" @@ -26909,8 +26279,6 @@ MONDO:0002610 "SCTID:387778001" MONDO:0002610 "DOID:3326" MONDO:0002610 "HP:0000979" MONDO:0002610 "UMLS:C0034150" -MONDO:0002610 "ICD10:D69.2" -MONDO:0005791 "ICD10:B08.5" MONDO:0005791 "ICD9:074.0" MONDO:0005791 "MESH:D006557" MONDO:0005791 "EFO:0007306" @@ -26922,7 +26290,7 @@ MONDO:0011346 "OMIM:603592" MONDO:0011346 "Orphanet:3467" MONDO:0011346 "Orphanet:93602" MONDO:0011346 "UMLS:C1863688" -MONDO:0011346 "ICD10:E79.8" +MONDO:0011346 "ICD10CM:E79.8" MONDO:0011346 "MESH:C566358" MONDO:0011346 "GARD:0005620" MONDO:0014745 "DOID:0110673" @@ -26930,8 +26298,8 @@ MONDO:0014745 "OMIM:616720" MONDO:0014745 "UMLS:C4225235" MONDO:0700089 "OMIM:118800" MONDO:0700089 "DOID:0090049" +MONDO:0700089 "ICD10CM:G24.8" MONDO:0700089 "OMIM:611147" -MONDO:0700089 "ICD10:G24.8" MONDO:0700089 "MedDRA:10065657" MONDO:0700089 "Orphanet:98810" MONDO:0700089 "MedDRA:10065658" @@ -26952,16 +26320,15 @@ MONDO:0018493 "ICD9:995.86" MONDO:0018493 "OMIM:601887" MONDO:0018493 "HP:0002047" MONDO:0018493 "OMIMPS:145600" -MONDO:0018493 "ICD10:T88.3" MONDO:0019824 "Orphanet:95488" -MONDO:0019824 "ICD10:E23.0" +MONDO:0019824 "ICD10CM:E23.0" MONDO:0009331 "MESH:C565524" +MONDO:0009331 "ICD10CM:Q87.3" MONDO:0009331 "GARD:0002630" MONDO:0009331 "OMIM:235000" MONDO:0009331 "UMLS:C1856184" MONDO:0009331 "MedDRA:10019463" MONDO:0009331 "Orphanet:2128" -MONDO:0009331 "ICD10:Q87.3" MONDO:0023663 "MESH:C537716" MONDO:0023663 "UMLS:C1867610" MONDO:0023663 "GARD:0000170" @@ -26969,18 +26336,17 @@ MONDO:0023663 "OMIM:176920" MONDO:0004665 "NCIT:C3518" MONDO:0004665 "ICD9:201.5" MONDO:0004665 "ONCOTREE:NSCHL" -MONDO:0004665 "ICD10:C81.1" MONDO:0004665 "DOID:8838" -MONDO:0004665 "SCTID:118608000" MONDO:0004665 "ICDO:9663/3" MONDO:0004665 "EFO:0004708" +MONDO:0004665 "SCTID:118608000" MONDO:0013170 "Orphanet:221145" MONDO:0013170 "DOID:0070139" MONDO:0013170 "OMIM:613177" MONDO:0013170 "MESH:C567716" MONDO:0013170 "PMID:19836010" MONDO:0013170 "UMLS:C2750804" -MONDO:0013170 "ICD10:Q82.8" +MONDO:0013170 "ICD10CM:Q82.8" MONDO:0020673 "NCIT:C35318" MONDO:0011554 "OMIM:605429" HP:0002463 "UMLS:C0023015" @@ -26995,33 +26361,32 @@ MONDO:0012787 "UMLS:C4304963" MONDO:0012787 "GARD:0004924" MONDO:0012787 "MESH:C567433" MONDO:0012787 "Orphanet:139480" -MONDO:0012787 "ICD10:G11.4" MONDO:0012787 "SCTID:719103009" MONDO:0012787 "UMLS:C2677586" +MONDO:0012787 "ICD10CM:G11.4" MONDO:0013733 "OMIM:614401" MONDO:0021316 "UMLS:C0345614" MONDO:0021316 "SCTID:363485006" MONDO:0021316 "NCIT:C4410" -MONDO:0015153 "ICD10:Q93.9" -MONDO:0015153 "ICD10:Q93.8" -MONDO:0015153 "ICD10:Q93.7" -MONDO:0015153 "ICD10:Q93.4" -MONDO:0015153 "ICD10:Q93.1" +MONDO:0015153 "ICD10CM:Q93.1" +MONDO:0015153 "ICD10CM:Q93.3" +MONDO:0015153 "ICD10CM:Q93.0" +MONDO:0015153 "ICD10CM:Q93.5" +MONDO:0015153 "ICD10CM:Q93.7" MONDO:0015153 "Orphanet:102020" -MONDO:0015153 "ICD10:Q93.6" -MONDO:0015153 "ICD10:Q93.5" -MONDO:0015153 "ICD10:Q93.3" -MONDO:0015153 "ICD10:Q93.0" -MONDO:0015153 "ICD10:Q93.2" +MONDO:0015153 "ICD10CM:Q93.4" +MONDO:0015153 "ICD10CM:Q93.2" +MONDO:0015153 "ICD10CM:Q93.9" +MONDO:0015153 "ICD10CM:Q93.8" MONDO:0012275 "Orphanet:1906" MONDO:0012275 "SCTID:17231009" MONDO:0012275 "GARD:0005447" -MONDO:0012275 "ICD10:Q86.8" MONDO:0012275 "NCIT:C98930" MONDO:0012275 "MedDRA:10016524" MONDO:0012275 "MESH:C536525" MONDO:0012275 "OMIM:609442" MONDO:0012275 "UMLS:C0236026" +MONDO:0012275 "ICD10CM:Q86.8" MONDO:0012275 "ICD9:759.89" MONDO:0012275 "DOID:0060471" MONDO:0030356 "OMIM:619479" @@ -27042,29 +26407,29 @@ MONDO:0020705 "OMIM:182940" MONDO:0036779 "NCIT:C35749" MONDO:0036779 "SCTID:126639006" MONDO:0036779 "UMLS:C1290308" -MONDO:0019369 "ICD10:M89.0" +MONDO:0019369 "ICD10CM:M89.0" MONDO:0019369 "MESH:D020918" -MONDO:0019369 "ICD10:G56.4" MONDO:0019369 "DOID:3223" MONDO:0019369 "MedDRA:10064332" +MONDO:0019369 "ICD10CM:G56.4" MONDO:0019369 "GARD:0004647" MONDO:0019369 "OMIM:604335" MONDO:0019369 "Orphanet:83452" MONDO:0019369 "UMLS:C0458219" MONDO:0019369 "SCTID:128200000" MONDO:0013391 "Orphanet:163684" +MONDO:0013391 "ICD10CM:E75.2" MONDO:0013391 "GARD:0012471" MONDO:0013391 "UMLS:C3150990" -MONDO:0013391 "ICD10:E75.2" MONDO:0013391 "OMIM:613724" NCBITaxon:2704949 "GC_ID:1" +MONDO:0016555 "ICD10CM:P72.2" MONDO:0016555 "Orphanet:238696" -MONDO:0016555 "ICD10:P72.2" MONDO:0056795 "DOID:0070189" MONDO:0056795 "OMIM:305700" MONDO:0012462 "OMIM:610279" +MONDO:0012462 "ICD10CM:Q04.3" MONDO:0012462 "GARD:0010003" -MONDO:0012462 "ICD10:Q04.3" MONDO:0012462 "Orphanet:329329" MONDO:0012462 "UMLS:C1853215" MONDO:0012462 "MESH:C538092" @@ -27077,16 +26442,16 @@ MONDO:0008990 "Orphanet:93940" MONDO:0008990 "Orphanet:2005" MONDO:0019931 "UMLS:CN206848" MONDO:0019931 "OMIM:238320" +MONDO:0019931 "ICD10CM:Q56.1" MONDO:0019931 "Orphanet:96266" -MONDO:0019931 "ICD10:Q56.1" MONDO:0012041 "MESH:C563924" MONDO:0012041 "NCIT:C96520" MONDO:0012041 "OMIM:608456" -MONDO:0012041 "ICD10:D12.6" MONDO:0012041 "Orphanet:220460" MONDO:0012041 "Orphanet:247798" MONDO:0012041 "GARD:0010805" MONDO:0012041 "UMLS:C1837991" +MONDO:0012041 "ICD10CM:D12.6" MONDO:0008669 "UMLS:C1860357" MONDO:0008669 "MESH:C565993" MONDO:0008669 "OMIM:193450" @@ -27118,33 +26483,33 @@ MONDO:0005223 "EFO:0003026" MONDO:0005223 "NCIT:C8460" MONDO:0005223 "UMLS:C0522631" MONDO:0005223 "ICDO:9872/3" -MONDO:0005223 "ICD10:C92.0" +MONDO:0005223 "ICD10CM:C92.0" MONDO:0005223 "ONCOTREE:AMLMD" MONDO:0034054 "OMIM:618261" MONDO:0034054 "Orphanet:538958" HP:0002715 "UMLS:C4021753" MONDO:0009110 "GARD:0001855" MONDO:0009110 "UMLS:C1857253" +MONDO:0009110 "ICD10CM:E72.0" MONDO:0009110 "MESH:C536171" MONDO:0009110 "DOID:0060650" MONDO:0009110 "SCTID:716747007" -MONDO:0009110 "ICD10:E72.0" MONDO:0009110 "Orphanet:2195" MONDO:0009110 "OMIM:222730" +MONDO:0016613 "ICD10CM:D12.6" MONDO:0016613 "Orphanet:247806" MONDO:0016613 "OMIM:175100" MONDO:0016613 "UMLS:CN201818" -MONDO:0016613 "ICD10:D12.6" MONDO:0030607 "OMIM:619721" MONDO:0010387 "OMIM:300640" -MONDO:0020452 "ICD10:Q26.8" MONDO:0020452 "Orphanet:99123" +MONDO:0020452 "ICD10CM:Q26.8" MONDO:0020452 "ICD9:747.49" MONDO:0020452 "SCTID:93031005" MONDO:0005527 "MESH:D020258" MONDO:0005527 "GARD:0007199" +MONDO:0005527 "ICD10CM:G92" MONDO:0005527 "Wikipedia:Toxic_encephalopathy" -MONDO:0005527 "ICD10:G92" MONDO:0005527 "NCIT:C27961" MONDO:0005527 "ICD9:349.82" MONDO:0005527 "EFO:0005595" @@ -27155,9 +26520,9 @@ MONDO:0044348 "SCTID:80141007" MONDO:0005919 "ICD9:762.2" MONDO:0005919 "DOID:3891" MONDO:0005919 "MESH:D010927" -MONDO:0005919 "ICD10:O36.5" MONDO:0005919 "UMLS:C0032051" MONDO:0005919 "SCTID:237292005" +MONDO:0005919 "ICD10CM:O36.5" MONDO:0005919 "EFO:0007443" MONDO:0005919 "Orphanet:439167" MONDO:0005410 "EFO:0004599" @@ -27172,7 +26537,7 @@ MONDO:0007175 "OMIM:108980" MONDO:0007175 "UMLS:C3152251" MONDO:0008239 "OMIM:172110" MONDO:0012958 "OMIM:612596" -MONDO:0019261 "ICD10:E75.4" +MONDO:0019261 "ICD10CM:E75.4" MONDO:0019261 "SCTID:58258004" MONDO:0019261 "OMIM:214200" MONDO:0019261 "OMIM:256730" @@ -27182,7 +26547,7 @@ MONDO:0018304 "MedDRA:10062908" MONDO:0018304 "GARD:0012390" MONDO:0018304 "MESH:D019873" MONDO:0018304 "EFO:1001165" -MONDO:0018304 "ICD10:L50.8" +MONDO:0018304 "ICD10CM:L50.8" MONDO:0018304 "UMLS:C0524988" MONDO:0018304 "SCTID:402415001" MONDO:0018304 "ICD9:708.8" @@ -27190,8 +26555,8 @@ MONDO:0018304 "DOID:4371" MONDO:0001139 "DOID:10849" MONDO:0001139 "ICD9:302.83" MONDO:0001139 "NCIT:C94356" -MONDO:0001139 "ICD10:F65.51" MONDO:0001139 "SCTID:51239001" +MONDO:0001139 "ICD10CM:F65.51" MONDO:0001139 "MESH:D008398" MONDO:0011789 "DOID:4586" MONDO:0011789 "Orphanet:263662" @@ -27225,10 +26590,9 @@ MONDO:0005393 "SCTID:190828008" MONDO:0005393 "UMLS:C0018099" MONDO:0005393 "ICD9:274.00" MONDO:0005393 "NCIT:C34650" +MONDO:0005393 "ICD10CM:M10" MONDO:0005393 "MESH:D006073" MONDO:0005393 "ICD9:274.0" -MONDO:0005393 "ICD10:M10" -MONDO:0005393 "ICD10:M10.9" MONDO:0005393 "EFO:0004274" MONDO:0016960 "Orphanet:262905" MONDO:0018799 "UMLS:CN776861" @@ -27238,7 +26602,6 @@ MONDO:0044747 "NCIT:C128425" MONDO:0044747 "ICD9:082.49" MONDO:0008593 "Orphanet:411788" MONDO:0008593 "OMIM:190330" -MONDO:0013148 "ICD10:I49.8" MONDO:0013148 "DOID:0110225" MONDO:0013148 "Orphanet:130" MONDO:0013148 "OMIM:613123" @@ -27247,17 +26610,17 @@ MONDO:0013148 "UMLS:C2751083" MONDO:0003654 "DOID:5809" MONDO:0003654 "NCIT:C6589" MONDO:0003654 "UMLS:C1332994" -MONDO:0004173 "DOID:7284" -MONDO:0004173 "UMLS:C1527427" -MONDO:0004173 "NCIT:C39863" -CL:1000702 "KUPO:0001113" -MONDO:0007396 "ICD10:Q78.8" MONDO:0007396 "GARD:0002016" +MONDO:0007396 "ICD10CM:Q78.8" MONDO:0007396 "OMIM:122900" MONDO:0007396 "Orphanet:1798" MONDO:0007396 "UMLS:C0432263" MONDO:0007396 "SCTID:254124008" MONDO:0007396 "MESH:C562974" +MONDO:0004173 "DOID:7284" +MONDO:0004173 "UMLS:C1527427" +MONDO:0004173 "NCIT:C39863" +CL:1000702 "KUPO:0001113" MONDO:0003830 "DOID:6258" MONDO:0003830 "UMLS:C1519706" MONDO:0003830 "NCIT:C39809" @@ -27268,8 +26631,8 @@ MONDO:0013031 "OMIM:612881" MONDO:0013031 "Orphanet:2149" NCBITaxon:28844 "GC_ID:1" MONDO:0007572 "ICD9:289.6" +MONDO:0007572 "ICD10CM:D75.0" MONDO:0007572 "Orphanet:90042" -MONDO:0007572 "ICD10:D75.0" MONDO:0007572 "GARD:0009843" MONDO:0007572 "SCTID:17342003" MONDO:0007572 "OMIM:133100" @@ -27288,15 +26651,18 @@ MONDO:0003184 "DOID:4876" MONDO:0003184 "EFO:1000599" MONDO:0003184 "UMLS:C1744708" MONDO:0003184 "NCIT:C9347" +MONDO:0054813 "UMLS:CN248508" +MONDO:0054813 "OMIM:618000" +MONDO:0054813 "Orphanet:536532" MONDO:0012136 "MESH:C563463" -MONDO:0012136 "ICD10:E71.3" +MONDO:0012136 "ICD10CM:E71.3" MONDO:0012136 "Orphanet:228308" MONDO:0012136 "Orphanet:157" MONDO:0012136 "UMLS:C1833518" MONDO:0012136 "OMIM:608836" -MONDO:0054813 "UMLS:CN248508" -MONDO:0054813 "OMIM:618000" -MONDO:0054813 "Orphanet:536532" +MONDO:0023182 "MESH:C537272" +MONDO:0023182 "GARD:0002371" +MONDO:0023182 "UMLS:C2931463" HP:0001873 "SNOMEDCT_US:302215000" HP:0001873 "UMLS:C0040034" HP:0001873 "UMLS:C0392386" @@ -27306,9 +26672,6 @@ MONDO:0001872 "UMLS:C0155379" MONDO:0001872 "SCTID:46888001" MONDO:0001872 "ICD9:379.54" MONDO:0001872 "DOID:14070" -MONDO:0023182 "MESH:C537272" -MONDO:0023182 "GARD:0002371" -MONDO:0023182 "UMLS:C2931463" MONDO:0007775 "GARD:0009593" MONDO:0007775 "OMIM:145295" MONDO:0007775 "MESH:C536845" @@ -27318,13 +26681,12 @@ MONDO:0005002 "NCIT:C3199" MONDO:0005002 "MESH:D029424" MONDO:0005002 "ICD9:490-496.99" MONDO:0005002 "OMIM:606963" -MONDO:0005002 "ICD10:J44.9" MONDO:0005002 "EFO:0000341" MONDO:0005002 "DOID:3083" MONDO:0005002 "SCTID:13645005" MONDO:0006560 "Wikipedia:Hypodidrosis" MONDO:0006560 "EFO:1000712" -MONDO:0006560 "ICD10:L74.4" +MONDO:0006560 "ICD10CM:L74.4" MONDO:0006560 "DOID:11155" MONDO:0006560 "UMLS:C0020620" MONDO:0006560 "HP:0000966" @@ -27341,7 +26703,6 @@ MONDO:0010805 "OMIM:600057" MONDO:0010805 "Orphanet:93930" MONDO:0010805 "UMLS:C0005689" MONDO:0010805 "GARD:0006398" -MONDO:0010805 "ICD10:Q64.1" MONDO:0010805 "ICD9:753.5" MONDO:0010805 "HP:0002836" MONDO:0010805 "SCTID:61758007" @@ -27349,12 +26710,12 @@ MONDO:0010805 "Orphanet:322" MONDO:0010805 "DOID:0080174" MONDO:0005412 "NCIT:C26755" MONDO:0005412 "ICD9:532" +MONDO:0005412 "ICD10CM:K26" MONDO:0005412 "HP:0002588" MONDO:0005412 "EFO:0004607" MONDO:0005412 "MESH:D004381" MONDO:0005412 "DOID:1724" MONDO:0005412 "SCTID:39755000" -MONDO:0005412 "ICD10:K26" NCBITaxon:1783270 "GC_ID:11" MONDO:0000724 "OMIMPS:606711" MONDO:0000724 "UMLS:C0454651" @@ -27371,7 +26732,6 @@ MONDO:0013538 "UMLS:C3279661" MONDO:0013538 "OMIM:614036" MONDO:0024560 "OMIM:607411" MONDO:0024560 "Orphanet:466729" -MONDO:0011377 "ICD10:I45.8" MONDO:0011377 "MESH:C565840" MONDO:0011377 "Orphanet:768" MONDO:0011377 "OMIM:603830" @@ -27390,7 +26750,7 @@ MONDO:0017137 "UMLS:C0029002" MONDO:0017137 "MESH:D009855" MONDO:0017137 "MedDRA:10030314" MONDO:0017137 "DOID:11678" -MONDO:0017137 "ICD10:B73" +MONDO:0017137 "ICD10CM:B73" MONDO:0017137 "MESH:D015827" MONDO:0017137 "GARD:0007252" MONDO:0017137 "Orphanet:2737" @@ -27403,9 +26763,8 @@ MONDO:0017137 "UMLS:C0029001" MONDO:0020172 "SCTID:126499002" MONDO:0020172 "Orphanet:98581" MONDO:0020172 "UMLS:CN207033" +MONDO:0010283 "ICD10CM:Q99.8" MONDO:0010283 "MESH:C537723" -MONDO:0010283 "ICD10:Q87.8" -MONDO:0010283 "ICD10:Q99.8" MONDO:0010283 "NCIT:C126747" MONDO:0010283 "OMIM:300815" MONDO:0010283 "ICD9:758.89" @@ -27430,35 +26789,34 @@ MONDO:0020549 "Orphanet:99925" MONDO:0020549 "MESH:D002820" MONDO:0020549 "SCTID:416669000" MONDO:0020549 "ICDO:9100/1" -MONDO:0020549 "ICD10:D39.2" MONDO:0020549 "NCIT:C6985" MONDO:0020549 "ONCOTREE:IHM" +MONDO:0020549 "ICD10CM:D39.2" MONDO:0014181 "DOID:0060211" MONDO:0014181 "UMLS:C3715156" MONDO:0014181 "Orphanet:803" MONDO:0014181 "OMIM:615426" NCBITaxon:10357 "GC_ID:1" HP:0001977 "UMLS:C4025731" -MONDO:0016125 "ICD10:M60.0" MONDO:0016125 "Orphanet:206988" MONDO:0017950 "Orphanet:324761" MONDO:0017950 "UMLS:CN437676" -MONDO:0017950 "ICD10:Q87.1" +MONDO:0017950 "ICD10CM:Q87.1" MONDO:0002791 "NCIT:C6904" MONDO:0002791 "DOID:3857" MONDO:0002791 "UMLS:C1266180" MONDO:0002791 "ICDO:9474/3" MONDO:0002791 "EFO:0008508" MONDO:0014025 "OMIM:615048" -MONDO:0014025 "ICD10:G12.1" MONDO:0014025 "Orphanet:276435" +MONDO:0014025 "ICD10CM:G12.1" MONDO:0014025 "UMLS:C3554398" MONDO:0010997 "OMIM:601104" MONDO:0010997 "Orphanet:240071" MONDO:0010997 "Orphanet:683" MONDO:0010997 "OMIM:610898" +MONDO:0010997 "ICD10CM:G23.1" MONDO:0010997 "OMIM:609454" -MONDO:0010997 "ICD10:G23.1" MONDO:0010997 "UMLS:C0038868" MONDO:0010997 "UMLS:CN201679" HP:0005656 "UMLS:C4025161" @@ -27467,47 +26825,47 @@ MONDO:0044997 "UMLS:C0521655" MONDO:0016093 "UMLS:C3665489" MONDO:0016093 "GARD:0009363" MONDO:0016093 "Orphanet:206473" +MONDO:0016093 "ICD10CM:C56" MONDO:0016093 "SCTID:764791008" MONDO:0016093 "NCIT:C4783" -MONDO:0016093 "ICD10:C56" MONDO:0016093 "EFO:1000140" +MONDO:0015366 "ICD10CM:G60.8" MONDO:0015366 "UMLS:CN228933" MONDO:0015366 "Orphanet:140477" -MONDO:0015366 "ICD10:G60.8" MONDO:0016008 "NCIT:C98927" +MONDO:0016008 "ICD10CM:Q86.1" MONDO:0016008 "ICD9:759.89" MONDO:0016008 "MESH:C537922" MONDO:0016008 "Orphanet:1912" -MONDO:0016008 "ICD10:Q86.1" MONDO:0016008 "MedDRA:10016508" MONDO:0016008 "SCTID:70065001" MONDO:0016008 "GARD:0006435" MONDO:0016008 "UMLS:C0265372" -MONDO:0009774 "UMLS:C0345217" +MONDO:0009774 "Orphanet:322" MONDO:0009774 "GARD:0004080" -MONDO:0009774 "Orphanet:93929" -MONDO:0009774 "NCIT:C99142" -MONDO:0009774 "MESH:C537748" +MONDO:0009774 "HP:0010475" +MONDO:0009774 "UMLS:C0345217" +MONDO:0009774 "SCTID:20815007" MONDO:0009774 "DOID:0080175" +MONDO:0009774 "MESH:C537748" MONDO:0009774 "MedDRA:10067424" -MONDO:0009774 "Orphanet:322" -MONDO:0009774 "HP:0010475" +MONDO:0009774 "NCIT:C99142" MONDO:0009774 "ICD9:759.89" -MONDO:0009774 "SCTID:20815007" -MONDO:0009774 "ICD10:Q64.1" +MONDO:0009774 "Orphanet:93929" +MONDO:0009774 "ICD10CM:Q64.1" +MONDO:0017566 "ICD10CM:Q74.2" MONDO:0017566 "Orphanet:295243" -MONDO:0017566 "ICD10:Q74.2" +MONDO:0008404 "ICD10CM:Q87.8" MONDO:0008404 "SCTID:721888002" MONDO:0008404 "DOID:0111550" MONDO:0008404 "OMIM:181270" MONDO:0008404 "MESH:C536623" -MONDO:0008404 "ICD10:Q87.8" MONDO:0008404 "Orphanet:2036" MONDO:0008404 "GARD:0000159" MONDO:0019122 "SCTID:64936001" MONDO:0019122 "NCIT:C35301" -MONDO:0019122 "ICD10:J82" MONDO:0019122 "GARD:0000107" +MONDO:0019122 "ICD10CM:J82" MONDO:0019122 "UMLS:C0242459" MONDO:0019122 "UMLS:C4518469" MONDO:0019122 "Orphanet:724" @@ -27526,10 +26884,10 @@ HP:0001305 "UMLS:C0010964" MONDO:0007207 "UMLS:C0457014" MONDO:0007207 "MESH:C562993" MONDO:0007207 "OMIM:112300" -MONDO:0007207 "ICD10:Q82.4" MONDO:0007207 "SCTID:722296002" MONDO:0007207 "GARD:0000932" MONDO:0007207 "Orphanet:1262" +MONDO:0007207 "ICD10CM:Q82.4" MONDO:0010082 "Orphanet:3191" MONDO:0010082 "GARD:0000405" MONDO:0010082 "OMIM:271960" @@ -27549,16 +26907,16 @@ MONDO:0008372 "UMLS:C1867331" MONDO:0008372 "MESH:C566720" MONDO:0008708 "OMIM:200990" MONDO:0008708 "SCTID:715951007" +MONDO:0008708 "ICD10CM:Q04.0" MONDO:0008708 "MESH:D055673" -MONDO:0008708 "Orphanet:36" -MONDO:0008708 "NCIT:C84531" -MONDO:0008708 "GARD:0005721" MONDO:0008708 "UMLS:C0796147" -MONDO:0008708 "ICD10:Q04.0" +MONDO:0008708 "NCIT:C84531" MONDO:0008708 "DOID:9250" +MONDO:0008708 "Orphanet:36" +MONDO:0008708 "GARD:0005721" MONDO:0017881 "Orphanet:319254" +MONDO:0017881 "ICD10CM:A98.2" MONDO:0017881 "DOID:11320" -MONDO:0017881 "ICD10:A98.2" MONDO:0017881 "GARD:0008257" MONDO:0017881 "SCTID:23097003" MONDO:0017881 "ICD9:065.2" @@ -27574,6 +26932,7 @@ MONDO:0019501 "OMIM:276901" MONDO:0019501 "OMIM:606943" MONDO:0019501 "OMIM:614504" MONDO:0019501 "NCIT:C85217" +MONDO:0019501 "ICD10CM:H35.5" MONDO:0019501 "OMIMPS:276900" MONDO:0019501 "UMLS:C1568248" MONDO:0019501 "OMIM:276902" @@ -27583,7 +26942,6 @@ MONDO:0019501 "OMIM:602083" MONDO:0019501 "Orphanet:886" MONDO:0019501 "OMIM:276904" MONDO:0019501 "OMIM:614869" -MONDO:0019501 "ICD10:H35.5" MONDO:0019501 "OMIM:605472" MONDO:0019501 "MedDRA:10063396" MONDO:0019501 "OMIM:611383" @@ -27593,8 +26951,8 @@ MONDO:0019501 "OMIM:601067" MONDO:0019501 "OMIM:614990" MONDO:0009845 "OMIM:260660" MONDO:0009845 "GARD:0001555" -MONDO:0009845 "ICD10:Q87.5" MONDO:0009845 "UMLS:C1850040" +MONDO:0009845 "ICD10CM:Q87.5" MONDO:0009845 "SCTID:719299009" MONDO:0009845 "MESH:C535550" MONDO:0009845 "Orphanet:93333" @@ -27603,7 +26961,6 @@ MONDO:0000913 "DOID:0110917" MONDO:0000913 "UMLS:C2674219" MONDO:0014871 "OMIM:617023" MONDO:0014871 "DOID:0110361" -MONDO:0014871 "ICD10:H35.5" MONDO:0014871 "UMLS:C4310759" NCBITaxon:29122 "GC_ID:1" MONDO:0019629 "HP:0000647" @@ -27611,19 +26968,16 @@ MONDO:0019629 "MESH:C565209" MONDO:0019629 "OMIM:181700" MONDO:0019629 "Orphanet:91490" MONDO:0019629 "DOID:0060252" -MONDO:0019629 "ICD10:Q13.3" MONDO:0016815 "OMIM:256000" -MONDO:0016815 "ICD10:G31.8" MONDO:0016815 "Orphanet:255241" +MONDO:0016815 "ICD10CM:G31.8" MONDO:0016815 "OMIM:616277" MONDO:0016815 "UMLS:CN202083" MONDO:0002036 "ICD9:607.9" MONDO:0002036 "DOID:1529" MONDO:0002036 "NCIT:C26846" MONDO:0002036 "MESH:D010409" -MONDO:0002036 "ICD10:N48.89" MONDO:0002036 "SCTID:33958003" -MONDO:0002036 "ICD10:N48.8" MONDO:0002036 "UMLS:C0030846" MONDO:0002036 "ICD9:607.8" MONDO:0002036 "ICD9:607.89" @@ -27634,7 +26988,7 @@ MONDO:0020478 "UMLS:CN207347" MONDO:0020478 "UMLS:C4304725" MONDO:0020478 "Orphanet:99718" MONDO:0020478 "OMIM:165200" -MONDO:0020478 "ICD10:H47.2" +MONDO:0020478 "ICD10CM:H47.2" MONDO:0020478 "DOID:0111754" MONDO:0020478 "SCTID:719430008" CL:1001591 "CALOHA:TS-1277" @@ -27665,61 +27019,54 @@ MONDO:0001298 "MESH:D008944" MONDO:0001298 "UMLS:C0158619" MONDO:0001298 "NCIT:C50888" MONDO:0001298 "ICD9:396.3" -MONDO:0001298 "ICD10:Q23.3" MONDO:0002244 "SCTID:37193007" MONDO:0002244 "UMLS:C0015503" MONDO:0002244 "MESH:D005168" MONDO:0002244 "ICD9:286.3" MONDO:0001474 "SCTID:198142001" -MONDO:0001474 "ICD10:N70.13" MONDO:0001474 "DOID:12265" MONDO:0001474 "UMLS:C0156328" -MONDO:0001474 "ICD10:N70.1" MONDO:0001474 "ICD9:614.1" MONDO:0018944 "Orphanet:59305" MONDO:0018944 "MESH:D006828" MONDO:0018944 "UMLS:C0020217" MONDO:0018944 "SCTID:44782008" -MONDO:0018944 "ICD10:O01.9" MONDO:0018944 "SCTID:609519004" MONDO:0018944 "MedDRA:10061988" MONDO:0018944 "OMIM:231090" MONDO:0018944 "NCIT:C3110" MONDO:0018944 "ICD9:630" MONDO:0018944 "GARD:0006498" -MONDO:0018944 "ICD10:O01" -MONDO:0018944 "ICD10:O01.0" MONDO:0018944 "UMLS:C1135868" MONDO:0018944 "DOID:3590" MONDO:0018944 "NCIT:C4699" MONDO:0004674 "SCTID:46627006" MONDO:0004674 "DOID:8886" -MONDO:0004674 "ICD10:H30.9" MONDO:0004674 "ICD9:363.20" -MONDO:0004674 "ICD10:H30" MONDO:0004674 "GARD:0006060" MONDO:0004674 "MESH:D002825" MONDO:0004674 "NCIT:C110923" MONDO:0004674 "HP:0012424" MONDO:0004674 "UMLS:C0008513" -MONDO:0005620 "ICD10:E85.4+" MONDO:0005620 "Orphanet:85458" MONDO:0005620 "OMIM:105150" MONDO:0005620 "NCIT:C84625" MONDO:0005620 "OMIM:605714" MONDO:0005620 "EFO:0006790" -MONDO:0005620 "ICD10:I68.0" -MONDO:0005620 "DOID:9246" MONDO:0005620 "MESH:D016657" +MONDO:0005620 "DOID:9246" +MONDO:0005620 "ICD10EXP:E85.4+" MONDO:0005620 "SCTID:230724001" MONDO:0005620 "SCTID:56453003" MONDO:0005620 "ICD9:277.39" +MONDO:0005620 "ICD10EXP:I68.0*" MONDO:0005620 "OMIM:176500" -MONDO:0005620 "ICD10:I68.0*" +MONDO:0005620 "ICD10CM:I68.0" MONDO:0005620 "GARD:0010266" MONDO:0005620 "OMIM:117300" NCBITaxon:2726946 "GC_ID:1" MONDO:0020022 "MESH:D009421" +MONDO:0020022 "ICD10CM:Q00-Q07" MONDO:0020022 "Orphanet:98044" MONDO:0000254 "DOID:0050134" MONDO:0000254 "SCTID:14560005" @@ -27730,13 +27077,12 @@ MONDO:0020665 "NCIT:C36046" MONDO:0001200 "NCIT:C3657" MONDO:0001200 "UMLS:C0155616" MONDO:0001200 "EFO:1002034" -MONDO:0001200 "ICD10:I15.9" MONDO:0001200 "ICD9:405.9" +MONDO:0001200 "ICD10CM:I15" MONDO:0001200 "ICD9:405.99" MONDO:0001200 "SCTID:31992008" MONDO:0001200 "ICD9:405" MONDO:0001200 "DOID:11130" -MONDO:0001200 "ICD10:I15" HP:0001392 "MSH:D008107" HP:0001392 "UMLS:C4021780" HP:0001392 "SNOMEDCT_US:235856003" @@ -27744,30 +27090,32 @@ HP:0001392 "UMLS:C0023895" MONDO:0013703 "OMIM:614341" MONDO:0013703 "UMLS:C3280539" MONDO:0013703 "Orphanet:88616" -MONDO:0018298 "ICD10:Q85.9" MONDO:0018298 "UMLS:CN227313" MONDO:0018298 "Orphanet:371428" +MONDO:0018298 "ICD10CM:Q85.9" MONDO:0018298 "SCTID:716868003" MONDO:0018298 "OMIM:259600" MONDO:0018298 "OMIM:277950" MONDO:0007388 "OMIM:122580" MONDO:0007388 "SCTID:725101002" MONDO:0007388 "MESH:C536448" -MONDO:0007388 "ICD10:Q68.8" MONDO:0007388 "Orphanet:2391" +MONDO:0007388 "ICD10CM:Q68.8" MONDO:0007388 "GARD:0001551" -MONDO:0000462 "ICD10:H00.H06" MONDO:0000462 "SCTID:118941004" MONDO:0000462 "UMLS:C1290855" +MONDO:0000462 "ICD10CM:H55-H57" +MONDO:0000462 "ICD10CM:H00-H06" MONDO:0000462 "DOID:0050815" +MONDO:0000462 "ICD10CM:H00-H59" MONDO:0006365 "EFO:1000470" MONDO:0006365 "NCIT:C4733" MONDO:0015771 "Orphanet:1747" +MONDO:0015771 "ICD10CM:Q92.1" MONDO:0015771 "UMLS:CN036006" MONDO:0015771 "GARD:0005354" MONDO:0015771 "SCTID:764630003" MONDO:0015771 "MESH:C537822" -MONDO:0015771 "ICD10:Q92.1" MONDO:0008795 "OMIM:206700" MONDO:0008795 "DOID:0111578" MONDO:0008795 "UMLS:C0431401" @@ -27775,10 +27123,9 @@ MONDO:0008795 "MESH:C536370" MONDO:0008795 "SCTID:253176002" MONDO:0008795 "GARD:0000013" MONDO:0008795 "Orphanet:1065" +MONDO:0008795 "ICD10CM:G11.0" MONDO:0008795 "ICD9:759.89" -MONDO:0008795 "ICD10:G11.0" MONDO:0004861 "ICD9:360.14" -MONDO:0004861 "ICD10:H16.24" MONDO:0004861 "DOID:9722" MONDO:0004861 "SCTID:12371008" MONDO:0004861 "UMLS:C0154775" @@ -27803,8 +27150,8 @@ MONDO:0019378 "ICD9:062.5" MONDO:0019378 "MedDRA:10014584" MONDO:0019378 "SCTID:61094002" MONDO:0019378 "MESH:D004670" +MONDO:0019378 "ICD10CM:A83.5" MONDO:0019378 "UMLS:C0276379" -MONDO:0019378 "ICD10:A83.5" MONDO:0019378 "GARD:0010925" MONDO:0019378 "UMLS:C0014053" MONDO:0019378 "Orphanet:83483" @@ -27814,9 +27161,9 @@ MONDO:0044101 "MESH:D065173" MONDO:0044101 "NCIT:C92761" MONDO:0010999 "GARD:0000893" MONDO:0010999 "OMIM:601127" +MONDO:0010999 "ICD10CM:Q87.8" MONDO:0010999 "SCTID:723336008" MONDO:0010999 "UMLS:C1832735" -MONDO:0010999 "ICD10:Q87.8" MONDO:0010999 "Orphanet:3304" MONDO:0010999 "MESH:C536608" MONDO:0025003 "MESH:D015511" @@ -27825,42 +27172,42 @@ MONDO:0012828 "Orphanet:334" MONDO:0012828 "OMIM:612240" MONDO:0012828 "MESH:C567389" MONDO:0012828 "UMLS:C2677106" -MONDO:0006248 "MESH:D006828" +MONDO:0006248 "ICD10CM:O01.0" +MONDO:0006248 "SCTID:44782008" +MONDO:0006248 "ICD10CM:O00-O08" +MONDO:0006248 "ICD9:631" +MONDO:0006248 "ICD10CM:O01.9" +MONDO:0006248 "Orphanet:99927" +MONDO:0006248 "ICD10CM:O01.1" MONDO:0006248 "EFO:1000298" MONDO:0006248 "OMIM:231090" -MONDO:0006248 "ONCOTREE:MP" -MONDO:0006248 "ICDO:9100/0" -MONDO:0006248 "OMIM:614293" -MONDO:0006248 "ICD10:O01.1" -MONDO:0006248 "OMIMPS:231090" -MONDO:0006248 "Orphanet:99927" -MONDO:0006248 "ICD9:631" MONDO:0006248 "GARD:0010263" -MONDO:0006248 "ICD10:O01.0" MONDO:0006248 "NCIT:C3110" -MONDO:0006248 "ICD10:O01.9" MONDO:0006248 "UMLS:C0020217" -MONDO:0006248 "SCTID:44782008" +MONDO:0006248 "ICDO:9100/0" +MONDO:0006248 "ONCOTREE:MP" +MONDO:0006248 "MESH:D006828" MONDO:0006248 "MedDRA:10020481" +MONDO:0006248 "OMIM:614293" +MONDO:0006248 "OMIMPS:231090" MONDO:0002708 "DOID:3612" MONDO:0002708 "UMLS:C0035333" MONDO:0002708 "SCTID:399463004" -MONDO:0002708 "ICD10:H30.9" MONDO:0002708 "MESH:D012173" MONDO:0002708 "NCIT:C115993" MONDO:0009362 "GARD:0002427" MONDO:0009362 "OMIM:236640" MONDO:0009362 "Orphanet:3035" -MONDO:0009362 "ICD10:Q87.8" +MONDO:0009362 "ICD10CM:Q87.8" MONDO:0009362 "SCTID:716198008" MONDO:0009362 "UMLS:C1856052" MONDO:0009362 "MESH:C535406" MONDO:0030020 "OMIM:618855" +MONDO:0008982 "ICD10CM:H31.2" MONDO:0008982 "OMIM:215500" MONDO:0008982 "SCTID:231996009" MONDO:0008982 "OMIM:613105" MONDO:0008982 "OMIMPS:215500" -MONDO:0008982 "ICD10:H31.2" MONDO:0008982 "ICD9:363.54" MONDO:0008982 "GARD:0010049" MONDO:0008982 "OMIM:613144" @@ -27871,23 +27218,22 @@ MONDO:0044999 "SCTID:238922006" MONDO:0044999 "UMLS:C0406629" MONDO:0009624 "OMIM:251270" MONDO:0009624 "DOID:0080105" -MONDO:0009624 "ICD10:Q87.8" MONDO:0009624 "OMIM:616335" +MONDO:0009624 "ICD10CM:Q87.8" MONDO:0009624 "Orphanet:2518" MONDO:0009624 "NCIT:C129306" FOODON:00001579 "SUBSET_SIREN:F10770" MONDO:0021746 "EFO:1001835" MONDO:0021746 "UMLS:C0034184" MONDO:0021746 "MESH:D053653" +MONDO:0005028 "ICD10CM:C15.5" MONDO:0005028 "EFO:0000478" MONDO:0005028 "ONCOTREE:ESCA" MONDO:0005028 "OMIM:109350" MONDO:0005028 "OMIM:614266" MONDO:0005028 "Orphanet:99976" MONDO:0005028 "UMLS:C0279628" -MONDO:0005028 "ICD10:C15.2" MONDO:0005028 "SCTID:276803003" -MONDO:0005028 "ICD10:C15.5" MONDO:0005028 "NCIT:C4025" MONDO:0005028 "DOID:4914" MONDO:0010836 "OMIM:600165" @@ -27945,7 +27291,6 @@ MONDO:0002479 "ONCOTREE:SLCT" MONDO:0002479 "DOID:2997" MONDO:0002479 "UMLS:C0206723" MONDO:0006656 "MedDRA:10002921" -MONDO:0006656 "ICD10:I77.6" MONDO:0006656 "DOID:519" MONDO:0006656 "EFO:1000816" MONDO:0006656 "SCTID:70933002" @@ -27957,35 +27302,35 @@ MONDO:0016817 "OMIM:613805" MONDO:0016817 "MedDRA:10070612" MONDO:0016817 "OMIM:616835" MONDO:0016817 "SCTID:703508009" -MONDO:0016817 "ICD10:Q87.1" MONDO:0016817 "OMIM:613800" MONDO:0016817 "OMIM:613804" MONDO:0016817 "Orphanet:2554" MONDO:0016817 "MESH:C538012" MONDO:0016817 "OMIM:613803" +MONDO:0016817 "ICD10CM:Q87.1" MONDO:0016817 "DOID:0060306" MONDO:0016817 "GARD:0002033" MONDO:0016817 "OMIM:617063" MONDO:0016817 "OMIM:224690" MONDO:0018077 "NCIT:C85208" -MONDO:0018077 "ICD10:A21.1" +MONDO:0018077 "ICD10CM:A21.1" MONDO:0018077 "EFO:1001444" MONDO:0018077 "GARD:0000396" -MONDO:0018077 "ICD10:A21.3" -MONDO:0018077 "ICD10:A21.9" +MONDO:0018077 "ICD10CM:A21.0" MONDO:0018077 "ICD9:021.9" MONDO:0018077 "Orphanet:3392" -MONDO:0018077 "ICD10:A21.0" +MONDO:0018077 "ICD10CM:A21.7" +MONDO:0018077 "ICD10CM:A21.2" MONDO:0018077 "UMLS:C0041351" +MONDO:0018077 "ICD10CM:A21" MONDO:0018077 "MedDRA:10045146" -MONDO:0018077 "ICD10:A21.2" MONDO:0018077 "ICD9:021.8" -MONDO:0018077 "ICD10:A21.8" MONDO:0018077 "MESH:D014406" MONDO:0018077 "SCTID:19265001" -MONDO:0018077 "ICD10:A21.7" -MONDO:0018077 "ICD10:A21" +MONDO:0018077 "ICD10CM:A21.9" MONDO:0018077 "DOID:2123" +MONDO:0018077 "ICD10CM:A21.8" +MONDO:0018077 "ICD10CM:A21.3" MONDO:0021454 "ICD9:224.0" MONDO:0021454 "ICD9:224.9" MONDO:0021454 "ICD9:224.8" @@ -27995,28 +27340,27 @@ MONDO:0021454 "UMLS:C0496897" MONDO:0005198 "UMLS:C0346210" MONDO:0005198 "EFO:0002627" MONDO:0005198 "NCIT:C4756" +MONDO:0005198 "ICD10CM:D07.1" MONDO:0005198 "Orphanet:137583" -MONDO:0005198 "ICD10:D07.1" MONDO:0005855 "DOID:8867" -MONDO:0005855 "ICD10:B08.1" MONDO:0005855 "UMLS:C0026393" MONDO:0005855 "EFO:0007375" MONDO:0005855 "ICD9:078.0" MONDO:0005855 "SCTID:40070004" +MONDO:0005855 "ICD10CM:B08.1" MONDO:0005855 "MESH:D008976" MONDO:0020257 "GARD:0008403" MONDO:0020257 "Orphanet:98687" -MONDO:0015203 "ICD10:Q24.5" MONDO:0015203 "MedDRA:10061060" MONDO:0015203 "Orphanet:1081" CL:1000507 "KUPO:0001020" MONDO:0011524 "MESH:C535950" -MONDO:0011524 "ICD10:D47.9" MONDO:0011524 "GARD:0009797" MONDO:0011524 "Orphanet:275523" MONDO:0011524 "SCTID:721093000" MONDO:0011524 "UMLS:C2931071" MONDO:0011524 "OMIM:605233" +MONDO:0011524 "ICD10CM:D47.9" MONDO:0001519 "SCTID:33168009" MONDO:0001519 "ICD9:374.00" MONDO:0001519 "UMLS:C0014390" @@ -28026,13 +27370,13 @@ MONDO:0001519 "DOID:12397" MONDO:0020667 "OMIM:207410" MONDO:0022895 "GARD:0001590" MONDO:0017859 "Orphanet:31824" -MONDO:0017859 "ICD10:T50.4" +MONDO:0017859 "ICD10CM:T50.4" MONDO:0017859 "ICD9:974.7" MONDO:0017859 "UMLS:CN203894" MONDO:0017859 "SCTID:24354007" MONDO:0016605 "Orphanet:247623" -MONDO:0016605 "ICD10:E83.3" MONDO:0016605 "UMLS:C2673477" +MONDO:0016605 "ICD10CM:E83.3" MONDO:0016605 "OMIM:241500" MONDO:0013705 "Orphanet:88616" MONDO:0013705 "UMLS:C3280541" @@ -28044,11 +27388,11 @@ MONDO:0007238 "UMLS:CN033494" MONDO:0007238 "MESH:C535565" MONDO:0007238 "GARD:0009489" MONDO:0007238 "OMIM:113700" -MONDO:0018805 "ICD10:Q44.4" MONDO:0018805 "MESH:D015529" MONDO:0018805 "NCIT:C2943" MONDO:0018805 "SCTID:397868007" MONDO:0018805 "DOID:899" +MONDO:0018805 "ICD10CM:Q44.4" MONDO:0018805 "SCTID:398197009" MONDO:0018805 "GARD:0009229" MONDO:0018805 "OMIM:603003" @@ -28056,10 +27400,10 @@ MONDO:0018805 "Orphanet:480501" MONDO:0018805 "ICD9:576.8" MONDO:0018805 "ICD9:751.69" MONDO:0019324 "GARD:0007354" +MONDO:0019324 "ICD10CM:L10.2" MONDO:0019324 "HGNC:3050" MONDO:0019324 "MedDRA:10057069" MONDO:0019324 "SCTID:35154004" -MONDO:0019324 "ICD10:L10.2" MONDO:0019324 "EFO:0008601" MONDO:0019324 "UMLS:C0263313" MONDO:0019324 "Orphanet:79481" @@ -28085,7 +27429,6 @@ MONDO:0010765 "GARD:0005068" MONDO:0010765 "OMIM:616067" MONDO:0010765 "OMIM:154230" MONDO:0010765 "NCIT:C120198" -MONDO:0010765 "ICD10:Q99.1" MONDO:0010765 "OMIM:614279" MONDO:0010765 "OMIM:400044" MONDO:0010765 "OMIM:616425" @@ -28103,32 +27446,29 @@ NCBITaxon:203691 "PMID:26654112" NCBITaxon:203691 "PMID:29458499" MONDO:0014994 "UMLS:C4310644" MONDO:0014994 "OMIM:617260" -MONDO:0017389 "ICD10:E70.1" MONDO:0017389 "Orphanet:293284" -MONDO:0018463 "ICD10:E79.8" +MONDO:0017389 "ICD10CM:E70.1" MONDO:0018463 "OMIM:300661" MONDO:0018463 "Orphanet:411536" MONDO:0018463 "UMLS:CN237443" +MONDO:0018463 "ICD10CM:E79.8" MONDO:0023000 "GARD:0001895" -MONDO:0006530 "DOID:869" MONDO:0006530 "EFO:1000675" +MONDO:0006530 "MESH:D002781" MONDO:0006530 "ICD9:385.30" -MONDO:0006530 "ICD10:H71.90" MONDO:0006530 "NCIT:C2944" MONDO:0006530 "GARD:0010422" MONDO:0006530 "HP:0009797" MONDO:0006530 "UMLS:C0008373" -MONDO:0006530 "ICD10:H71.9" MONDO:0006530 "SCTID:363668000" -MONDO:0006530 "MESH:D002781" +MONDO:0006530 "DOID:869" +MONDO:0019207 "ICD10CM:P70.2" MONDO:0019207 "OMIM:606176" MONDO:0019207 "SCTID:721088003" -MONDO:0019207 "ICD10:P70.2" MONDO:0019207 "NCIT:C131845" MONDO:0019207 "UMLS:C1853564" MONDO:0019207 "Orphanet:79134" MONDO:0019207 "UMLS:C4303593" -MONDO:0001864 "ICD10:H40.24" MONDO:0001864 "DOID:1404" MONDO:0001864 "UMLS:C0154948" MONDO:0001864 "SCTID:55129006" @@ -28138,15 +27478,14 @@ MONDO:0006658 "DOID:5162" MONDO:0006658 "MESH:D050379" MONDO:0006658 "NCIT:C35543" MONDO:0006658 "EFO:1000819" -MONDO:0006658 "ICD10:I70" MONDO:0006658 "UMLS:C0878486" +MONDO:0006658 "ICD10CM:I70" MONDO:0021042 "GARD:0006513" MONDO:0021042 "Orphanet:182067" MONDO:0021042 "NCIT:C3059" MONDO:0021042 "MESH:D005910" MONDO:0021042 "UMLS:C0017638" MONDO:0021042 "SCTID:393564001" -MONDO:0008585 "ICD10:O14.2" MONDO:0008585 "Orphanet:244242" MONDO:0008585 "DOID:13133" MONDO:0008585 "OMIM:189800" @@ -28158,17 +27497,17 @@ MONDO:0008585 "NCIT:C84750" MONDO:0008585 "MESH:D017359" MONDO:0008585 "Orphanet:275555" MONDO:0007604 "Orphanet:1988" -MONDO:0007604 "ICD10:Q87.8" MONDO:0007604 "OMIM:134780" MONDO:0007604 "ICD9:759.89" MONDO:0007604 "MESH:C537916" MONDO:0007604 "GARD:0000061" +MONDO:0007604 "ICD10CM:Q87.8" MONDO:0007604 "SCTID:13280000" CL:0000990 "FMA:84191" MONDO:0011030 "OMIM:601315" MONDO:0007971 "GARD:0001727" +MONDO:0007971 "ICD10CM:Q75.8" MONDO:0007971 "UMLS:C1835030" -MONDO:0007971 "ICD10:Q75.8" MONDO:0007971 "Orphanet:3034" MONDO:0007971 "SCTID:715524004" MONDO:0007971 "MESH:C563592" @@ -28199,28 +27538,29 @@ MONDO:0022444 "GARD:0001026" MONDO:0017755 "Orphanet:309816" MONDO:0017755 "UMLS:CN227200" MONDO:0032891 "OMIM:618734" -MONDO:0015481 "ICD10:Q10.3" MONDO:0015481 "Orphanet:155889" MONDO:0015481 "SCTID:763133008" +MONDO:0015481 "ICD10CM:Q10.3" MONDO:0006845 "EFO:1001030" MONDO:0006845 "SCTID:240379005" MONDO:0006845 "MedDRA:10061234" MONDO:0006845 "MESH:D014389" MONDO:0006845 "UMLS:C0041317" MONDO:0009719 "UMLS:C1850635" -MONDO:0009719 "ICD10:D15.1" MONDO:0009719 "GARD:0000139" MONDO:0009719 "MESH:C538262" MONDO:0009719 "Orphanet:615" +MONDO:0009719 "ICD10CM:D15.1" MONDO:0009719 "SCTID:233855002" MONDO:0009719 "OMIM:255960" +MONDO:0017510 "ICD10CM:Q72.8" MONDO:0017510 "Orphanet:295118" -MONDO:0017510 "ICD10:Q72.8" MONDO:0012471 "GARD:0010895" MONDO:0012471 "MESH:C563683" MONDO:0012471 "UMLS:C1835916" MONDO:0012471 "Orphanet:51" MONDO:0012471 "OMIM:610329" +MONDO:0015459 "ICD10CM:C11.0" MONDO:0015459 "OMIM:161550" MONDO:0015459 "Orphanet:150" MONDO:0015459 "ICD9:147.9" @@ -28229,31 +27569,28 @@ MONDO:0015459 "UMLS:C3647449" MONDO:0015459 "UMLS:C3665551" MONDO:0015459 "UMLS:C0153392" MONDO:0015459 "OMIM:607107" -MONDO:0015459 "ICD10:C11.9" MONDO:0015459 "MESH:C538339" -MONDO:0015459 "ICD10:C11.2" -MONDO:0015459 "ICD10:C11.3" MONDO:0015459 "MESH:D00007727" MONDO:0015459 "ICD9:147.3" MONDO:0015459 "OMIM:617075" MONDO:0015459 "UMLS:C0153396" +MONDO:0015459 "ICD10CM:C11.3" MONDO:0015459 "UMLS:C0238301" MONDO:0015459 "SCTID:187692001" MONDO:0015459 "SCTID:363398003" MONDO:0015459 "ICD9:147.1" MONDO:0015459 "MESH:D009303" MONDO:0015459 "UMLS:C0153395" -MONDO:0015459 "ICD10:C11.0" -MONDO:0015459 "ICD10:C11.1" MONDO:0015459 "ICD9:147.2" +MONDO:0015459 "ICD10CM:C11.2" MONDO:0015459 "ICD9:147" MONDO:0015459 "NCIT:C3871" MONDO:0015459 "MedDRA:10028793" MONDO:0015459 "ONCOTREE:NPC" MONDO:0015459 "UMLS:CN199582" -MONDO:0015459 "ICD10:C11" MONDO:0015459 "ICD9:147.0" MONDO:0015459 "DOID:9261" +MONDO:0015459 "ICD10CM:C11.1" MONDO:0015459 "UMLS:C0153393" MONDO:0015459 "UMLS:C0153394" MONDO:0015459 "NCIT:C9321" @@ -28268,7 +27605,6 @@ MONDO:0024623 "MESH:D010038" MONDO:0024623 "UMLS:C0029896" MONDO:0001687 "UMLS:C0011876" MONDO:0001687 "DOID:13328" -MONDO:0001687 "ICD10:H28.0" MONDO:0001687 "ICD9:366.41" MONDO:0001687 "SCTID:43959009" MONDO:0002329 "ICD9:608.89" @@ -28284,7 +27620,6 @@ MONDO:0017638 "MedDRA:10058951" MONDO:0017638 "MESH:D020149" MONDO:0017638 "Orphanet:306682" MONDO:0017638 "ICD9:503" -MONDO:0017638 "ICD10:T57.2" MONDO:0017638 "SCTID:88687001" MONDO:0017638 "EFO:1001808" NCBITaxon:72274 "GC_ID:11" @@ -28295,20 +27630,20 @@ MONDO:0043494 "SCTID:52089001" MONDO:0043494 "NCIT:C34399" MONDO:0005705 "DOID:13767" MONDO:0005705 "EFO:0007210" -MONDO:0005705 "ICD10:B66.1" MONDO:0005705 "ICD9:121.1" +MONDO:0005705 "ICD10CM:B66.1" MONDO:0005705 "MESH:D003003" MONDO:0005705 "UMLS:C0009021" MONDO:0005705 "SCTID:11938002" -MONDO:0013873 "OMIM:614732" MONDO:0013873 "Orphanet:85173" MONDO:0013873 "SCTID:702384004" +MONDO:0013873 "ICD10CM:Q87.1" MONDO:0013873 "NCIT:C130988" MONDO:0013873 "GARD:0012312" MONDO:0013873 "ICD9:759.89" -MONDO:0013873 "ICD10:Q87.1" MONDO:0013873 "DOID:0050885" MONDO:0013873 "UMLS:C1846009" +MONDO:0013873 "OMIM:614732" MONDO:0016063 "MESH:D006223" MONDO:0016063 "OMIM:615108" MONDO:0016063 "NCIT:C3076" @@ -28318,7 +27653,6 @@ MONDO:0016063 "OMIM:615106" MONDO:0016063 "OMIM:615109" MONDO:0016063 "DOID:6457" MONDO:0016063 "UMLS:C0018553" -MONDO:0016063 "ICD10:Q85.8" MONDO:0016063 "OMIM:616858" MONDO:0016063 "GARD:0006202" MONDO:0016063 "OMIM:615107" @@ -28326,6 +27660,7 @@ MONDO:0016063 "SCTID:58037000" MONDO:0016063 "OMIMPS:158350" MONDO:0016063 "OMIM:612359" MONDO:0016063 "Orphanet:201" +MONDO:0016063 "ICD10CM:Q85.8" MONDO:0002739 "DOID:3698" MONDO:0002739 "UMLS:C0861856" MONDO:0002739 "NCIT:C5846" @@ -28337,7 +27672,7 @@ MONDO:0008177 "ICDO:8542/3" MONDO:0008177 "Orphanet:2800" MONDO:0008177 "MESH:D010145" MONDO:0008177 "OMIM:167300" -MONDO:0008177 "ICD10:C44.5" +MONDO:0008177 "ICD10CM:C44.5" MONDO:0008177 "MedDRA:10033366" MONDO:0008177 "NCIT:C3302" MONDO:0008177 "EFO:1000249" @@ -28349,29 +27684,26 @@ MONDO:0021315 "UMLS:C0153392" MONDO:0021315 "ICD9:147.9" MONDO:0011526 "NCIT:C131650" MONDO:0018242 "UMLS:C0271865" -MONDO:0018242 "ICD10:E20.8" +MONDO:0018242 "ICD10CM:E20.8" MONDO:0018242 "Orphanet:36913" MONDO:0018242 "HP:0011771" MONDO:0018242 "SCTID:75316000" -MONDO:0005059 "NCIT:C3161" +MONDO:0005059 "ICD9:208" +MONDO:0005059 "HP:0001909" MONDO:0005059 "ICDO:9800/3" -MONDO:0005059 "ICD10:C95.90" -MONDO:0005059 "ICD9:207.8" -MONDO:0005059 "DOID:1240" -MONDO:0005059 "ICD9:208.8" -MONDO:0005059 "SCTID:93143009" -MONDO:0005059 "UMLS:C0023418" +MONDO:0005059 "NCIT:C3161" MONDO:0005059 "MESH:D007938" -MONDO:0005059 "ICD10:C95.9" +MONDO:0005059 "ICD9:208.90" MONDO:0005059 "ICD9:207.80" -MONDO:0005059 "ICD9:208.9" -MONDO:0005059 "HP:0001909" -MONDO:0005059 "ICD10:C95" MONDO:0005059 "ICD9:208.80" -MONDO:0005059 "ICD9:208" -MONDO:0005059 "ICD9:207" -MONDO:0005059 "ICD9:208.90" +MONDO:0005059 "ICD9:208.8" +MONDO:0005059 "ICD9:208.9" +MONDO:0005059 "SCTID:93143009" +MONDO:0005059 "UMLS:C0023418" +MONDO:0005059 "ICD9:207.8" MONDO:0005059 "EFO:0000565" +MONDO:0005059 "ICD9:207" +MONDO:0005059 "DOID:1240" CL:0000235 "BTO:0000801" CL:0000235 "FMA:63261" CL:0000235 "FMA:83585" @@ -28390,7 +27722,7 @@ MONDO:0043103 "UMLS:C0271826" MONDO:0005928 "ICD9:459.10" MONDO:0005928 "ICD9:459.13" MONDO:0005928 "ICD9:459.1" -MONDO:0005928 "ICD10:I87.0" +MONDO:0005928 "ICD10CM:I87.0" MONDO:0005928 "ICD9:459.12" MONDO:0005928 "EFO:0007452" MONDO:0005928 "MESH:D011186" @@ -28407,13 +27739,12 @@ MONDO:0012967 "UMLS:C2675459" MONDO:0012967 "SCTID:766982000" MONDO:0012967 "Orphanet:86817" MONDO:0012967 "OMIM:612631" -MONDO:0012967 "ICD10:D55.3" +MONDO:0012967 "ICD10CM:D55.3" MONDO:0011713 "OMIM:606719" MONDO:0011713 "Orphanet:404560" MONDO:0004351 "ICD9:200.50" MONDO:0004351 "DOID:775" MONDO:0004351 "Orphanet:279904" -MONDO:0004351 "ICD10:C85,7" MONDO:0004351 "MESH:D064090" MONDO:0004351 "SCTID:420788006" MONDO:0004351 "NCIT:C9184" @@ -28421,13 +27752,13 @@ MONDO:0009447 "MESH:C565471" MONDO:0009447 "UMLS:C1855786" MONDO:0009447 "OMIM:242550" CL:0002622 "BTO:0003972" +MONDO:0009837 "ICD10CM:D33.0" MONDO:0009837 "UMLS:C0205770" MONDO:0009837 "MESH:D020288" MONDO:0009837 "Orphanet:2807" MONDO:0009837 "GARD:0004214" MONDO:0009837 "Orphanet:251899" MONDO:0009837 "EFO:1000177" -MONDO:0009837 "ICD10:D33.0" MONDO:0009837 "SCTID:425868004" MONDO:0009837 "OMIM:260500" MONDO:0009837 "DOID:2626" @@ -28438,18 +27769,17 @@ MONDO:0009837 "MedDRA:10008777" MONDO:0007750 "SCTID:398036000" MONDO:0007750 "OMIM:143890" MONDO:0007750 "Orphanet:391665" +MONDO:0007403 "ICD10CM:A81.0" MONDO:0007403 "UMLS:CN202816" MONDO:0007403 "OMIM:123400" MONDO:0007403 "Orphanet:282166" MONDO:0007403 "Orphanet:204" MONDO:0007403 "SCTID:715807002" -MONDO:0007403 "ICD10:A81.0" MONDO:0012020 "MESH:C567224" MONDO:0012020 "DOID:0060436" MONDO:0012020 "GARD:0010557" MONDO:0012020 "ICD9:758.5" MONDO:0012020 "Orphanet:1727" -MONDO:0012020 "ICD10:Q92.3" MONDO:0012020 "SCTID:699311001" MONDO:0012020 "UMLS:C2675369" MONDO:0012020 "OMIM:608363" @@ -28462,7 +27792,6 @@ MONDO:0011282 "UMLS:C1864232" MONDO:0011282 "OMIM:603040" MONDO:0001162 "ICD9:312.39" MONDO:0001162 "ICD9:312.30" -MONDO:0001162 "ICD10:F63.9" MONDO:0001162 "NCIT:C34723" MONDO:0001162 "DOID:10937" MONDO:0001162 "SCTID:66347000" @@ -28476,31 +27805,31 @@ MONDO:0016471 "OMIM:260130" MONDO:0016471 "NCIT:C84986" MONDO:0016471 "UMLS:C0265334" MONDO:0016471 "DOID:0050449" +MONDO:0016471 "ICD10CM:Q84.5" MONDO:0016471 "OMIM:615728" -MONDO:0016471 "ICD10:Q84.5" MONDO:0016471 "OMIM:167210" MONDO:0016471 "GARD:0010753" MONDO:0019988 "UMLS:CN206923" MONDO:0019988 "Orphanet:97563" -MONDO:0019988 "ICD10:N05.7" +MONDO:0019988 "ICD10CM:N05.7" MONDO:0008435 "OMIM:182400" MONDO:0005792 "EFO:0007307" MONDO:0005792 "MESH:D013283" MONDO:0005792 "SCTID:57920007" MONDO:0012098 "UMLS:C1837541" -MONDO:0012098 "ICD10:G11.2" MONDO:0012098 "OMIM:608687" MONDO:0012098 "Orphanet:101110" MONDO:0012098 "GARD:0009997" -MONDO:0012098 "DOID:0050971" MONDO:0012098 "MESH:C537199" +MONDO:0012098 "DOID:0050971" +MONDO:0012098 "ICD10CM:G11.2" MONDO:0012098 "SCTID:718771009" +MONDO:0018500 "ICD10CM:B76.9" MONDO:0018500 "MESH:D007815" MONDO:0018500 "SCTID:19362000" MONDO:0018500 "Orphanet:423717" MONDO:0018500 "GARD:0001629" MONDO:0018500 "ICD9:126.9" -MONDO:0018500 "ICD10:B76.9" MONDO:0013461 "ICD9:277.2" MONDO:0013461 "Orphanet:319684" MONDO:0013461 "SCTID:238011005" @@ -28517,12 +27846,11 @@ MONDO:0003341 "DOID:5236" MONDO:0024879 "NCIT:C3482" MONDO:0024879 "ICDO:8010/6" MONDO:0024879 "UMLS:C1384494" -MONDO:0019825 "ICD10:Q24.5" MONDO:0019825 "Orphanet:95491" +MONDO:0019825 "ICD10CM:Q24.5" MONDO:0019825 "SCTID:204378009" MONDO:0003319 "UMLS:C0153604" MONDO:0003319 "SCTID:363454002" -MONDO:0003319 "ICD10:C63.2" MONDO:0003319 "NCIT:C3560" MONDO:0003319 "ICD9:187.7" MONDO:0003319 "DOID:518" @@ -28536,15 +27864,14 @@ MONDO:0018628 "Orphanet:443291" MONDO:0018628 "UMLS:CN237671" NCBITaxon:2842407 "GC_ID:1" MONDO:0032741 "OMIM:618425" -MONDO:0013305 "ICD10:H90.3" MONDO:0013305 "DOID:0110577" MONDO:0013305 "UMLS:C3160736" MONDO:0013305 "OMIM:613558" MONDO:0014863 "OMIM:617011" MONDO:0014863 "UMLS:C4310766" MONDO:0017053 "OMIM:248600" +MONDO:0017053 "ICD10CM:E71.0" MONDO:0017053 "Orphanet:268173" -MONDO:0017053 "ICD10:E71.0" MONDO:0017053 "SCTID:405288003" HP:0001882 "MSH:D007970" HP:0001882 "SNOMEDCT_US:84828003" @@ -28553,15 +27880,16 @@ MONDO:0009167 "SCTID:733049004" MONDO:0009167 "UMLS:C1856973" MONDO:0009167 "GARD:0002113" MONDO:0009167 "Orphanet:1261" -MONDO:0009167 "ICD10:Q04.8" +MONDO:0009167 "ICD10CM:Q04.8" MONDO:0009167 "OMIM:225755" MONDO:0009167 "MESH:C565594" MONDO:0017920 "SCTID:721086004" +MONDO:0017920 "ICD10CM:Q87.8" MONDO:0017920 "UMLS:C2931654" -MONDO:0017920 "ICD10:Q87.8" MONDO:0017920 "GARD:0004303" MONDO:0017920 "Orphanet:3224" MONDO:0017920 "MESH:C537887" +MONDO:0011694 "ICD10CM:G11.2" MONDO:0011694 "SCTID:716724006" MONDO:0011694 "Orphanet:98769" MONDO:0011694 "MESH:C564685" @@ -28569,16 +27897,15 @@ MONDO:0011694 "OMIM:606658" MONDO:0011694 "UMLS:C4274322" MONDO:0011694 "DOID:0050965" MONDO:0011694 "GARD:0010477" -MONDO:0011694 "ICD10:G11.2" MONDO:0011694 "UMLS:C1847725" MONDO:0011347 "MESH:C566357" MONDO:0011347 "UMLS:C1863678" MONDO:0011347 "OMIM:603595" MONDO:0020706 "NCIT:C34671" MONDO:0020706 "SCTID:239869009" -MONDO:0018494 "ICD10:Q87.1" MONDO:0018494 "Orphanet:423306" MONDO:0018494 "UMLS:CN237496" +MONDO:0018494 "ICD10CM:Q87.1" MONDO:0005707 "UMLS:C0009187" MONDO:0005707 "ICD9:007.2" MONDO:0005707 "MESH:D003048" @@ -28603,13 +27930,12 @@ MONDO:0056796 "ICD9:593.89" MONDO:0056796 "NCIT:C120902" MONDO:0004666 "NCIT:C128390" MONDO:0004666 "UMLS:C0025530" -MONDO:0004666 "ICD10:B66.8" MONDO:0004666 "DOID:884" MONDO:0004666 "ICD9:121.5" MONDO:0004666 "GARD:0009745" MONDO:0004666 "SCTID:37832003" +MONDO:0013957 "ICD10CM:D84.8" MONDO:0013957 "UMLS:C3808589" -MONDO:0013957 "ICD10:D84.8" MONDO:0013957 "Orphanet:319600" MONDO:0013957 "OMIM:614893" MONDO:0043355 "UMLS:C4040043" @@ -28625,29 +27951,29 @@ MONDO:0021317 "SCTID:449420002" NCBITaxon:318477 "GC_ID:1" MONDO:0012276 "UMLS:C1836173" MONDO:0012276 "OMIM:609446" +MONDO:0012276 "ICD10CM:G40.3" MONDO:0012276 "Orphanet:79137" MONDO:0012276 "MESH:C563719" -MONDO:0012276 "ICD10:G40.3" MONDO:0002904 "NCIT:C97166" MONDO:0002904 "MESH:D004454" MONDO:0002904 "DOID:4188" MONDO:0002904 "HP:0010529" -MONDO:0024467 "ICD10:L75" +MONDO:0024467 "ICD10CM:L75" MONDO:0000840 "DOID:0080018" MONDO:0000840 "SCTID:431591000124102" MONDO:0017333 "Orphanet:289494" MONDO:0017333 "UMLS:CN168056" MONDO:0005224 "Orphanet:98833" -MONDO:0005224 "ICD10:C92.0" MONDO:0005224 "ICDO:9873/3" MONDO:0005224 "NCIT:C3249" +MONDO:0005224 "ICD10CM:C92.0" MONDO:0005224 "GARD:0000526" MONDO:0005224 "ONCOTREE:AWM" MONDO:0005224 "EFO:0003027" MONDO:0005224 "SCTID:359640008" MONDO:0013392 "DOID:0050999" MONDO:0013392 "UMLS:C3150998" -MONDO:0013392 "ICD10:G11.2" +MONDO:0013392 "ICD10CM:G11.2" MONDO:0013392 "Orphanet:284289" MONDO:0013392 "OMIM:613728" HP:0002716 "MSH:D000072281" @@ -28661,15 +27987,14 @@ MONDO:0002035 "SCTID:133751000119102" MONDO:0002035 "NCIT:C4793" MONDO:0002035 "ICD9:202.80" MONDO:0015375 "SCTID:52868006" +MONDO:0015375 "ICD10CM:Q87.0" MONDO:0015375 "DOID:4501" MONDO:0015375 "MESH:D009958" -MONDO:0015375 "ICD10:Q87.0" MONDO:0015375 "Orphanet:140997" MONDO:0015375 "GARD:0010692" MONDO:0015375 "ICD9:759.89" MONDO:0015375 "OMIMPS:311200" MONDO:0000723 "OMIM:614668" -MONDO:0000723 "ICD10:F80.81" MONDO:0000723 "OMIM:614655" MONDO:0000723 "OMIM:184450" MONDO:0000723 "OMIM:609261" @@ -28681,34 +28006,33 @@ MONDO:0014466 "Orphanet:2671" MONDO:0014466 "UMLS:C4015019" MONDO:0014466 "DOID:0080075" MONDO:0016321 "UMLS:C3161106" -MONDO:0016321 "ICD10:J84.842" +MONDO:0016321 "ICD10CM:J84.842" +MONDO:0016321 "ICD10CM:P22.8" MONDO:0016321 "SCTID:707551007" MONDO:0016321 "Orphanet:217557" -MONDO:0016321 "ICD10:P22.8" HP:0040075 "UMLS:C0020635" HP:0040075 "SNOMEDCT_US:74728003" HP:0040075 "MSH:D007018" +MONDO:0005411 "NCIT:C7481" +MONDO:0005411 "ONCOTREE:GBC" +MONDO:0005411 "UMLS:C0016978" MONDO:0005411 "UMLS:C0153452" +MONDO:0005411 "NCIT:C3048" +MONDO:0005411 "DOID:3121" MONDO:0005411 "EFO:0004606" MONDO:0005411 "ICD9:156.0" -MONDO:0005411 "NCIT:C7481" MONDO:0005411 "GARD:0009328" -MONDO:0005411 "ICD9:156.8" -MONDO:0005411 "DOID:3121" -MONDO:0005411 "ICD10:C23" -MONDO:0005411 "NCIT:C3048" -MONDO:0005411 "ONCOTREE:GBC" MONDO:0005411 "SCTID:363353009" -MONDO:0005411 "UMLS:C0016978" +MONDO:0005411 "ICD9:156.8" MONDO:0018086 "GARD:0005395" MONDO:0018086 "OMIM:604093" MONDO:0018086 "Orphanet:3406" NCBITaxon:6231 "GC_ID:1" MONDO:0032930 "OMIM:618808" MONDO:0015520 "UMLS:CN199659" -MONDO:0015520 "ICD10:E75.2" MONDO:0015520 "Orphanet:157716" MONDO:0015520 "OMIM:603896" +MONDO:0015520 "ICD10CM:E75.2" MONDO:0002214 "NCIT:C6284" MONDO:0002214 "UMLS:C1332606" MONDO:0002214 "DOID:2127" @@ -28719,7 +28043,6 @@ MONDO:0012684 "DOID:0110083" MONDO:0012684 "UMLS:C1969081" MONDO:0012684 "Orphanet:217656" MONDO:0012684 "OMIM:611528" -MONDO:0012684 "ICD10:I42.8" MONDO:0012684 "MESH:C566925" MONDO:0008600 "UMLS:C0158328" MONDO:0008600 "SCTID:42786005" @@ -28729,19 +28052,18 @@ MONDO:0008600 "MESH:D052582" MONDO:0009111 "Orphanet:38874" MONDO:0009111 "DOID:0111629" MONDO:0009111 "ICD9:277.2" -MONDO:0009111 "ICD10:E79.8" MONDO:0009111 "OMIM:222748" MONDO:0009111 "GARD:0012347" +MONDO:0009111 "ICD10CM:E79.8" MONDO:0009111 "SCTID:238014002" MONDO:0016961 "Orphanet:262914" +MONDO:0016614 "ICD10CM:G11.8" MONDO:0016614 "UMLS:CN201819" MONDO:0016614 "Orphanet:247815" -MONDO:0016614 "ICD10:G11.8" MONDO:0010388 "OMIM:300643" MONDO:0010388 "Orphanet:163721" MONDO:0010388 "MESH:C564467" MONDO:0010388 "UMLS:C1845070" -MONDO:0020453 "ICD10:Q26.3" MONDO:0020453 "Orphanet:99124" MONDO:0020453 "SCTID:68237008" MONDO:0020453 "NCIT:C99004" @@ -28750,12 +28072,12 @@ MONDO:0000432 "UMLS:C0334633" MONDO:0000432 "ONCOTREE:LPL" MONDO:0000432 "OMIM:153600" MONDO:0000432 "DOID:0050747" -MONDO:0000432 "ICD10:C88.0" MONDO:0000432 "Orphanet:33226" MONDO:0000432 "UMLS:C0024419" MONDO:0000432 "OMIM:610430" MONDO:0000432 "NCIT:C3212" MONDO:0000432 "ICD9:273.3" +MONDO:0000432 "ICD10CM:C88.0" MONDO:0000432 "ICDO:9761/3" MONDO:0000432 "MESH:D008258" MONDO:0000432 "ICDO:9671/3" @@ -28788,9 +28110,9 @@ MONDO:0019262 "OMIM:600143" MONDO:0019262 "DOID:0050756" MONDO:0019262 "OMIM:610127" MONDO:0019262 "OMIM:256730" -MONDO:0019262 "ICD10:E75.4" MONDO:0019262 "MedDRA:10052073" MONDO:0019262 "OMIM:204200" +MONDO:0019262 "ICD10CM:E75.4" MONDO:0019262 "OMIM:204500" MONDO:0019262 "SCTID:61663001" MONDO:0019262 "OMIM:609055" @@ -28815,7 +28137,7 @@ MONDO:0004516 "UMLS:C1511339" MONDO:0004516 "NCIT:C39869" MONDO:0022936 "MESH:C535991" MONDO:0022936 "UMLS:C2931078" -MONDO:0001873 "ICD10:G51.1" +MONDO:0001873 "ICD10CM:G51.1" MONDO:0001873 "DOID:14075" MONDO:0001873 "ICD9:351.1" MONDO:0001873 "SCTID:72839009" @@ -28830,18 +28152,17 @@ MONDO:0013171 "SCTID:60743005" MONDO:0013171 "Orphanet:760" MONDO:0013171 "OMIM:613179" MONDO:0013171 "MESH:C562587" -MONDO:0013171 "UMLS:C0268125" MONDO:0013171 "DOID:5813" +MONDO:0013171 "UMLS:C0268125" MONDO:0013171 "ICD9:277.2" MONDO:0013171 "GARD:0004606" -MONDO:0013171 "ICD10:D81.5" MONDO:0013171 "HGNC:7892" MONDO:0013171 "NCIT:C3963" MONDO:0033569 "OMIM:619024" MONDO:0020674 "SCTID:86341008" -MONDO:0011555 "ICD10:Q87.2" MONDO:0011555 "MESH:C565328" MONDO:0011555 "OMIM:616738" +MONDO:0011555 "ICD10CM:Q87.2" MONDO:0011555 "SCTID:721882001" MONDO:0011555 "Orphanet:71289" MONDO:0011555 "OMIMPS:605432" @@ -28850,7 +28171,6 @@ MONDO:0010806 "DOID:0110403" MONDO:0010806 "MESH:C564008" MONDO:0010806 "GARD:0010388" MONDO:0010806 "OMIM:600059" -MONDO:0010806 "ICD10:H35.5" MONDO:0010806 "UMLS:C1838702" NCBITaxon:117571 "GC_ID:1" MONDO:0008594 "GARD:0008479" @@ -28867,7 +28187,6 @@ MONDO:0009540 "MESH:C565428" MONDO:0008770 "OMIM:204650" MONDO:0008770 "Orphanet:100031" MONDO:0008770 "DOID:0110056" -MONDO:0008770 "ICD10:K00.5" MONDO:0008770 "MESH:C567147" MONDO:0008770 "UMLS:C2673923" MONDO:0004174 "ICDO:8382/3" @@ -28892,16 +28211,16 @@ HP:0002651 "UMLS:C0432211" HP:0002651 "SNOMEDCT_US:254062008" MONDO:0016510 "Orphanet:231742" MONDO:0016510 "UMLS:CN226948" -MONDO:0020173 "UMLS:CN207034" -MONDO:0020173 "Orphanet:98582" MONDO:0019691 "ICD9:756.3" MONDO:0019691 "SCTID:254050009" MONDO:0019691 "Orphanet:93426" -MONDO:0019691 "ICD10:Q77.2" +MONDO:0019691 "OMIM:617405" +MONDO:0020173 "UMLS:CN207034" +MONDO:0020173 "Orphanet:98582" MONDO:0010284 "SCTID:719017003" -MONDO:0010284 "ICD10:Q87.8" MONDO:0010284 "Orphanet:85276" MONDO:0010284 "OMIM:300261" +MONDO:0010284 "ICD10CM:Q87.8" MONDO:0010284 "DOID:0050764" MONDO:0010284 "UMLS:C1846057" MONDO:0010284 "MESH:C564551" @@ -28911,7 +28230,7 @@ MONDO:0024246 "SCTID:403936002" MONDO:0024246 "HP:0031018" MONDO:0024246 "NCIT:C43356" MONDO:0024246 "ICDO:8392/0" -MONDO:0012137 "ICD10:Q68.8" +MONDO:0012137 "ICD10CM:Q68.8" MONDO:0012137 "Orphanet:319340" MONDO:0012137 "OMIM:608837" MONDO:0005003 "SCTID:235494005" @@ -28924,17 +28243,16 @@ MONDO:0005003 "UMLS:C0149521" MONDO:0005003 "MESH:D050500" MONDO:0006561 "ICD9:374.53" MONDO:0006561 "SCTID:68210006" -MONDO:0006561 "ICD10:H02.73" MONDO:0006561 "UMLS:C0155212" MONDO:0006561 "DOID:11668" MONDO:0006561 "EFO:1000713" MONDO:0024632 "SCTID:234578009" MONDO:0024632 "UMLS:C0398733" -MONDO:0008991 "ICD10:Q87.8" MONDO:0008991 "Orphanet:3429" MONDO:0008991 "OMIM:215850" MONDO:0008991 "GARD:0005482" MONDO:0008991 "MESH:C536541" +MONDO:0008991 "ICD10CM:Q87.8" MONDO:0008991 "SCTID:764697003" MONDO:0008991 "UMLS:C1859082" MONDO:0014316 "DOID:0110051" @@ -28944,9 +28262,9 @@ MONDO:0012042 "OMIM:608462" MONDO:0012042 "Orphanet:388" MONDO:0017951 "UMLS:C0265255" MONDO:0017951 "OMIMPS:190350" +MONDO:0017951 "ICD10CM:Q87.8" MONDO:0017951 "ICD9:759.89" MONDO:0017951 "Orphanet:324764" -MONDO:0017951 "ICD10:Q87.8" MONDO:0017951 "SCTID:18077009" MONDO:0024561 "UMLS:C1842914" MONDO:0024561 "OMIM:608161" @@ -28961,29 +28279,28 @@ MONDO:0017138 "UMLS:CN202554" MONDO:0017138 "OMIMPS:300000" MONDO:0017138 "GARD:0000193" MONDO:0017138 "KEGG:H00583" -MONDO:0017138 "ICD10:Q87.8" MONDO:0017138 "OMIM:300000" MONDO:0017138 "OMIM:145410" MONDO:0017138 "NCIT:C125487" MONDO:0017138 "DOID:0050780" MONDO:0017138 "ICD9:758.89" +MONDO:0017138 "ICD10CM:Q87.8" MONDO:0017138 "SCTID:81771002" MONDO:0008490 "OMIM:184840" -MONDO:0008490 "ICD10:Q87.5" MONDO:0008490 "GARD:0004351" MONDO:0008490 "Orphanet:3450" MONDO:0008490 "OMIM:277610" MONDO:0008490 "SCTID:699313003" +MONDO:0008490 "ICD10CM:Q77.7" MONDO:0008490 "DOID:4258" MONDO:0008490 "MESH:C537494" +MONDO:0008490 "ICD10CM:Q87.5" MONDO:0008490 "MESH:C535776" MONDO:0008490 "Orphanet:166100" MONDO:0008490 "GARD:0005021" -MONDO:0008490 "ICD10:Q77.7" MONDO:0037748 "UMLS:C0020476" MONDO:0037748 "NCIT:C34709" MONDO:0037748 "HP:0010980" -MONDO:0007293 "ICD10:D84.8" MONDO:0007293 "NCIT:C4689" MONDO:0007293 "DOID:0110910" MONDO:0007293 "Orphanet:2968" @@ -28991,9 +28308,9 @@ MONDO:0007293 "MESH:C535887" MONDO:0007293 "GARD:0006893" MONDO:0007293 "UMLS:C0398738" MONDO:0007293 "OMIM:116920" +MONDO:0007293 "ICD10CM:D84.8" MONDO:0007293 "SCTID:234582006" MONDO:0007293 "Orphanet:99842" -MONDO:0014182 "ICD10:H90.3" MONDO:0014182 "DOID:0110533" MONDO:0014182 "UMLS:C2829267" MONDO:0014182 "OMIM:615429" @@ -29013,20 +28330,20 @@ MONDO:0001305 "ICD9:478.74" MONDO:0001305 "DOID:11527" MONDO:0001305 "MESH:D007829" MONDO:0001305 "NCIT:C79608" -MONDO:0001305 "ICD10:J38.6" +MONDO:0001305 "ICD10CM:J38.6" MONDO:0001305 "HP:0001602" MONDO:0007208 "SCTID:254054000" MONDO:0007208 "Orphanet:1263" MONDO:0007208 "UMLS:C0432201" MONDO:0007208 "DOID:0050680" MONDO:0007208 "MESH:C536573" +MONDO:0007208 "ICD10CM:Q87.1" MONDO:0007208 "GARD:0000933" MONDO:0007208 "OMIM:112310" MONDO:0007208 "ICD9:756.9" -MONDO:0007208 "ICD10:Q87.1" NCBITaxon:10358 "GC_ID:1" +MONDO:0016126 "ICD10CM:M60.0" MONDO:0016126 "Orphanet:206991" -MONDO:0016126 "ICD10:M60.0" MONDO:0016126 "UMLS:C0150005" MONDO:0016126 "SCTID:240105009" MONDO:0016126 "ICD9:729.1" @@ -29037,11 +28354,11 @@ MONDO:0011087 "OMIM:601458" MONDO:0011087 "UMLS:C1832321" MONDO:0011087 "DOID:0110900" MONDO:0011087 "MESH:C563310" +MONDO:0008373 "ICD10CM:Q14.1" MONDO:0008373 "HP:0001136" MONDO:0008373 "DOID:0111547" MONDO:0008373 "Orphanet:75326" MONDO:0008373 "OMIM:180000" -MONDO:0008373 "ICD10:Q14.1" MONDO:0002792 "DOID:3860" MONDO:0002792 "UMLS:C1332903" MONDO:0002792 "NCIT:C5401" @@ -29099,23 +28416,23 @@ MONDO:0007176 "UMLS:C1862382" MONDO:0007176 "SCTID:724384008" MONDO:0007176 "MESH:C566236" MONDO:0007176 "DOID:0111228" -MONDO:0007176 "ICD10:H31.2" MONDO:0007176 "Orphanet:86813" MONDO:0007176 "OMIM:108985" +MONDO:0007176 "ICD10CM:H31.2" MONDO:0024990 "MESH:D013553" MONDO:0024990 "UMLS:C0039006" MONDO:0017359 "UMLS:C3696376" +MONDO:0017359 "ICD10CM:E71.1" MONDO:0017359 "NCIT:C98678" -MONDO:0017359 "ICD10:E71.1" +MONDO:0017359 "ICD10CM:E71.111" MONDO:0017359 "OMIMPS:250950" MONDO:0017359 "SCTID:237950009" -MONDO:0017359 "ICD10:E71.111" MONDO:0017359 "DOID:0060336" MONDO:0017359 "MESH:C579867" MONDO:0017359 "Orphanet:289902" MONDO:0018305 "OMIM:613960" +MONDO:0018305 "ICD10CM:D71" MONDO:0018305 "DOID:3265" -MONDO:0018305 "ICD10:D71" MONDO:0018305 "OMIM:233670" MONDO:0018305 "OMIM:233690" MONDO:0018305 "GARD:0006100" @@ -29132,26 +28449,25 @@ MONDO:0018305 "OMIM:233700" MONDO:0018305 "MESH:D006105" MONDO:0044998 "SCTID:128130001" MONDO:0044998 "UMLS:C1290872" -MONDO:0016094 "ICD10:C52" +MONDO:0016094 "ICD10CM:C52" MONDO:0016094 "Orphanet:206489" MONDO:0016094 "UMLS:CN200860" +MONDO:0015367 "ICD10CM:Q87.0" MONDO:0015367 "SCTID:733034007" MONDO:0015367 "UMLS:CN199458" MONDO:0015367 "Orphanet:1406" MONDO:0015367 "UMLS:C4518555" -MONDO:0015367 "ICD10:Q87.0" MONDO:0015367 "UMLS:C0221060" MONDO:0015367 "GARD:0001261" MONDO:0016009 "Orphanet:1913" MONDO:0016009 "UMLS:C0265373" MONDO:0016009 "MESH:C537798" MONDO:0016009 "ICD9:759.89" -MONDO:0016009 "ICD10:Q86.8" +MONDO:0016009 "ICD10CM:Q86.8" MONDO:0016009 "SCTID:66351003" +MONDO:0017567 "ICD10CM:Q74.2" MONDO:0017567 "Orphanet:295245" -MONDO:0017567 "ICD10:Q74.2" MONDO:0019470 "ONCOTREE:ANKL" -MONDO:0019470 "ICD10:C94.8" MONDO:0019470 "ICDO:9948/3" MONDO:0019470 "DOID:1035" MONDO:0019470 "NCIT:C8647" @@ -29159,16 +28475,14 @@ MONDO:0019470 "UMLS:C1292777" MONDO:0019470 "MedDRA:10028811" MONDO:0019470 "Orphanet:86873" MONDO:0019470 "UMLS:C1522378" -MONDO:0019470 "ICD10:C94.7" MONDO:0019470 "GARD:0010493" MONDO:0019470 "SCTID:721310007" MONDO:0019123 "UMLS:C3806403" MONDO:0019123 "OMIM:245570" MONDO:0019123 "UMLS:CN205644" -MONDO:0019123 "ICD10:F80.3" MONDO:0019123 "Orphanet:725" MONDO:0019123 "UMLS:CN181337" -MONDO:0016480 "ICD10:Q87.1" +MONDO:0016480 "ICD10CM:Q87.1" MONDO:0016480 "Orphanet:231140" MONDO:0016480 "UMLS:CN201475" MONDO:0044702 "DOID:0111738" @@ -29199,10 +28513,10 @@ HP:0011368 "UMLS:C4020752" CL:1000703 "KUPO:0001114" NCBITaxon:7203 "GC_ID:1" MONDO:0018945 "HGNC:12811" +MONDO:0018945 "ICD10CM:G10" MONDO:0018945 "SCTID:234411007" MONDO:0018945 "Orphanet:59306" MONDO:0018945 "GARD:0010731" -MONDO:0018945 "ICD10:G10" MONDO:0018945 "ICD9:289.89" MONDO:0018945 "OMIM:300842" MONDO:0018945 "MESH:C564038" @@ -29211,8 +28525,8 @@ MONDO:0013032 "DOID:0111322" MONDO:0008709 "UMLS:CN201238" MONDO:0008709 "GARD:0002096" MONDO:0008709 "OMIM:200995" -MONDO:0008709 "ICD10:Q87.0" MONDO:0008709 "MESH:C573722" +MONDO:0008709 "ICD10CM:Q87.0" MONDO:0008709 "GARD:0000486" MONDO:0008709 "UMLS:C3495588" MONDO:0008709 "Orphanet:221054" @@ -29225,51 +28539,50 @@ MONDO:0011720 "MESH:C564665" MONDO:0017882 "SCTID:48113006" MONDO:0017882 "ICD9:065.1" MONDO:0017882 "UMLS:C0019103" -MONDO:0017882 "DOID:992" MONDO:0017882 "MedDRA:10030310" +MONDO:0017882 "DOID:992" MONDO:0017882 "MESH:D006481" -MONDO:0017882 "ICD10:A98.1" MONDO:0017882 "GARD:0008254" MONDO:0017882 "Orphanet:319266" +MONDO:0017882 "ICD10CM:A98.1" MONDO:0022067 "UMLS:C2930937" MONDO:0022067 "GARD:0001081" MONDO:0022067 "MESH:C535571" MONDO:0020023 "Orphanet:98045" -MONDO:0014872 "OMIM:617024" -MONDO:0014872 "UMLS:C4310758" -MONDO:0014872 "DOID:0110866" -MONDO:0000914 "DOID:0111035" -MONDO:0000914 "UMLS:C0751587" -MONDO:0000914 "SCTID:390936003" -MONDO:0000914 "MESH:D046589" +MONDO:0000914 "Orphanet:136" MONDO:0000914 "OMIM:125310" +MONDO:0000914 "GARD:0001049" +MONDO:0000914 "MESH:D046589" MONDO:0000914 "NCIT:C84606" -MONDO:0000914 "Orphanet:136" -MONDO:0000914 "ICD10:F01.1" +MONDO:0000914 "SCTID:390936003" MONDO:0000914 "MedDRA:10065551" -MONDO:0000914 "GARD:0001049" +MONDO:0000914 "ICD10CM:F01.1" +MONDO:0000914 "DOID:0111035" +MONDO:0000914 "UMLS:C0751587" +MONDO:0014872 "OMIM:617024" +MONDO:0014872 "UMLS:C4310758" +MONDO:0014872 "DOID:0110866" MONDO:0004382 "MESH:D007818" MONDO:0004382 "NCIT:C26810" MONDO:0004382 "ICD9:478.70" -MONDO:0004382 "ICD10:S12.8" +MONDO:0004382 "ICD10CM:J38.7" MONDO:0004382 "DOID:786" MONDO:0004382 "UMLS:C0023051" MONDO:0004382 "SCTID:60600009" -MONDO:0004382 "ICD10:J38.7" -NCBITaxon:43351 "GC_ID:1" MONDO:0018299 "Orphanet:371442" +NCBITaxon:43351 "GC_ID:1" MONDO:0016816 "OMIM:607426" MONDO:0016816 "OMIM:614652" MONDO:0016816 "Orphanet:255249" +MONDO:0016816 "ICD10CM:G31.8" MONDO:0016816 "UMLS:CN202084" -MONDO:0016816 "ICD10:G31.8" +MONDO:0002037 "ICD10CM:J90-J94" MONDO:0002037 "ICD9:518.89" MONDO:0002037 "MESH:D010995" MONDO:0002037 "SCTID:88075009" MONDO:0002037 "DOID:1532" MONDO:0002037 "NCIT:C26859" MONDO:0002037 "UMLS:C0032226" -MONDO:0020479 "ICD10:E22.0" MONDO:0020479 "MedDRA:10018265" MONDO:0020479 "GARD:0006506" MONDO:0020479 "Orphanet:99725" @@ -29286,9 +28599,9 @@ MONDO:0003857 "UMLS:C4331858" CL:1001592 "CALOHA:TS-1278" MONDO:0005784 "NCIT:C84753" MONDO:0005784 "EFO:0007299" -MONDO:0005784 "ICD10:A98.5" MONDO:0005784 "SCTID:102455002" MONDO:0005784 "DOID:11266" +MONDO:0005784 "ICD10CM:A98.5" MONDO:0005784 "ICD9:078.6" MONDO:0005413 "EFO:0004608" MONDO:0012302 "OMIM:609566" @@ -29302,35 +28615,36 @@ MONDO:0004675 "ICD9:277.87" MONDO:0004675 "SCTID:447292006" MONDO:0005621 "MESH:D020214" MONDO:0005621 "EFO:0006791" +MONDO:0000255 "ICD10CM:L00-L08" MONDO:0000255 "DOID:0050135" MONDO:0009363 "MESH:C535770" MONDO:0009363 "OMIM:236660" MONDO:0009363 "GARD:0001666" -MONDO:0009363 "ICD10:Q87.8" MONDO:0009363 "SCTID:732926009" MONDO:0009363 "UMLS:C1856051" MONDO:0009363 "Orphanet:2181" +MONDO:0009363 "ICD10CM:Q87.8" MONDO:0003478 "NCIT:C8578" MONDO:0003478 "DOID:5509" MONDO:0003478 "MESH:C531673" +MONDO:0020666 "SCTID:238676008" MONDO:0021370 "SCTID:126798006" MONDO:0021370 "UMLS:C0345613" MONDO:0021370 "NCIT:C4409" -MONDO:0020666 "SCTID:238676008" CL:0000210 "CALOHA:TS-0868" CL:0000210 "FBbt:00004211" CL:0000210 "FMA:86740" CL:0000210 "BTO:0001060" -NCBITaxon:72041 "GC_ID:1" MONDO:0021747 "SCTID:49649001" -MONDO:0011890 "ICD10:G60.0" -MONDO:0011890 "DOID:0110150" +MONDO:0011890 "OMIM:607678" MONDO:0011890 "GARD:0009189" MONDO:0011890 "UMLS:C1843247" -MONDO:0011890 "OMIM:607678" -MONDO:0011890 "MESH:C537985" MONDO:0011890 "SCTID:719979008" +MONDO:0011890 "DOID:0110150" MONDO:0011890 "Orphanet:101084" +MONDO:0011890 "ICD10CM:G60.0" +MONDO:0011890 "MESH:C537985" +NCBITaxon:72041 "GC_ID:1" MONDO:0006854 "EFO:1001042" MONDO:0006854 "ICDO:8990/1" MONDO:0006854 "UMLS:C0025464" @@ -29338,8 +28652,8 @@ MONDO:0006854 "DOID:2668" MONDO:0006854 "NCIT:C3233" MONDO:0006854 "MESH:D008637" MONDO:0007800 "DOID:0060406" +MONDO:0007800 "ICD10CM:Q93.5" MONDO:0007800 "MESH:C538309" -MONDO:0007800 "ICD10:Q93.5" MONDO:0007800 "Orphanet:261974" MONDO:0007800 "Orphanet:1598" MONDO:0007800 "SCTID:270890001" @@ -29348,31 +28662,30 @@ MONDO:0007800 "ICD9:758.39" MONDO:0007800 "OMIM:146390" MONDO:0007800 "GARD:0008631" MONDO:0007800 "UMLS:C0432442" -MONDO:0015772 "ICD10:Q92.2" MONDO:0015772 "Orphanet:1752" MONDO:0015772 "MESH:C538020" +MONDO:0015772 "ICD10CM:Q92.2" MONDO:0015772 "NCIT:C36428" MONDO:0015772 "GARD:0005362" MONDO:0015772 "UMLS:C0795829" -MONDO:0001307 "ICD10:H16.31" MONDO:0001307 "ICD9:370.55" MONDO:0001307 "DOID:11543" MONDO:0001307 "UMLS:C0155091" MONDO:0001307 "NCIT:C26969" MONDO:0001307 "SCTID:64366002" MONDO:0008796 "Orphanet:1064" +MONDO:0008796 "ICD10CM:Q87.8" MONDO:0008796 "SCTID:733116005" MONDO:0008796 "OMIM:206750" MONDO:0008796 "GARD:0000690" -MONDO:0008796 "ICD10:Q87.8" MONDO:0008796 "MESH:C000598722" MONDO:0008796 "UMLS:C1859782" MONDO:0004862 "UMLS:C0042904" MONDO:0004862 "SCTID:48142003" MONDO:0004862 "ICD9:360.04" MONDO:0004862 "DOID:9723" +MONDO:0009742 "ICD10CM:L81.4" MONDO:0009742 "OMIM:256710" -MONDO:0009742 "ICD10:L81.4" MONDO:0009742 "UMLS:C1860157" MONDO:0009742 "SCTID:724091002" MONDO:0009742 "MESH:C536203" @@ -29380,7 +28693,6 @@ MONDO:0009742 "Orphanet:33445" MONDO:0007599 "MESH:C565022" MONDO:0007599 "UMLS:C1851374" MONDO:0007599 "OMIM:134540" -MONDO:0013210 "ICD10:H90.3" MONDO:0013210 "Orphanet:90636" MONDO:0013210 "DOID:0110483" MONDO:0013210 "OMIM:613285" @@ -29413,9 +28725,7 @@ MONDO:0005029 "NCIT:C3407" MONDO:0005029 "ICD9:238.71" MONDO:0005029 "SCTID:109994006" MONDO:0005029 "ICDO:9962/3" -MONDO:0005029 "ICD10:D47.3" MONDO:0005029 "Orphanet:3318" -MONDO:0005029 "OMIM:300331" MONDO:0005029 "UMLS:C0040028" MONDO:0005029 "MESH:D013920" MONDO:0005029 "OMIM:601977" @@ -29425,11 +28735,11 @@ MONDO:0005029 "OMIM:187950" MONDO:0005029 "GARD:0006594" MONDO:0005029 "Orphanet:71493" MONDO:0005029 "ONCOTREE:ET" -MONDO:0014475 "ICD10:G11.8" MONDO:0014475 "Orphanet:423275" MONDO:0014475 "SCTID:734020000" MONDO:0014475 "UMLS:CN219009" MONDO:0014475 "EFO:0009057" +MONDO:0014475 "ICD10CM:G11.8" MONDO:0014475 "DOID:0050986" MONDO:0014475 "GARD:0012371" MONDO:0014475 "UMLS:C4518336" @@ -29442,49 +28752,48 @@ MONDO:0008405 "OMIM:181300" MONDO:0021193 "ONCOTREE:PRNET" MONDO:0021193 "NCIT:C3787" MONDO:0021193 "MESH:D018302" -MONDO:0016419 "ICD10:C50.0" +MONDO:0016419 "ICD10CM:C50.6" MONDO:0016419 "NCIT:C4503" MONDO:0016419 "MESH:C562840" -MONDO:0016419 "ICD10:C50.4" MONDO:0016419 "SCTID:254843006" MONDO:0016419 "Orphanet:227535" MONDO:0016419 "UMLS:C0346153" +MONDO:0016419 "ICD10CM:C50.1" MONDO:0016419 "OMIM:604370" -MONDO:0016419 "ICD10:C50.1" +MONDO:0016419 "ICD10CM:C50.4" MONDO:0016419 "OMIM:613399" +MONDO:0016419 "ICD10CM:C50.8" MONDO:0016419 "OMIM:600048" -MONDO:0016419 "ICD10:C50.2" -MONDO:0016419 "ICD10:C50.5" -MONDO:0016419 "ICD10:C50.8" MONDO:0016419 "OMIM:114480" +MONDO:0016419 "ICD10CM:C50.2" +MONDO:0016419 "ICD10CM:C50.5" MONDO:0016419 "OMIM:612555" -MONDO:0016419 "ICD10:C50.3" -MONDO:0016419 "ICD10:C50.6" MONDO:0016419 "OMIM:605365" +MONDO:0016419 "ICD10CM:C50.0" +MONDO:0016419 "ICD10CM:C50.3" MONDO:0008040 "Orphanet:420611" MONDO:0008040 "ONCOTREE:TAM" MONDO:0008040 "ICDO:9898/1" MONDO:0008040 "UMLS:C1834582" MONDO:0008040 "OMIM:159595" MONDO:0008040 "HP:0005534" -MONDO:0008040 "ICD10:D47.7" MONDO:0008040 "NCIT:C82339" MONDO:0008040 "MESH:C563551" MONDO:0008040 "GARD:0012765" MONDO:0008040 "SCTID:721307000" MONDO:0008040 "DOID:0060888" -MONDO:0020258 "UMLS:CN207073" -MONDO:0020258 "Orphanet:98688" MONDO:0019776 "SCTID:721875000" MONDO:0019776 "Orphanet:93972" MONDO:0019776 "OMIM:309580" +MONDO:0020258 "UMLS:CN207073" +MONDO:0020258 "Orphanet:98688" PO:0009046 "PO_GIT:160" PO:0009046 "PO_GIT:259" NCBITaxon:6259 "GC_ID:1" MONDO:0012693 "MESH:C566917" MONDO:0012693 "OMIM:611556" +MONDO:0012693 "ICD10CM:E74.0" MONDO:0012693 "SCTID:725027004" -MONDO:0012693 "ICD10:E74.0" MONDO:0012693 "GARD:0010760" MONDO:0012693 "UMLS:C1969054" MONDO:0012693 "Orphanet:137625" @@ -29500,29 +28809,26 @@ MONDO:0009846 "UMLS:C0268162" MONDO:0009846 "MedDRA:10064170" MONDO:0009846 "Orphanet:2843" MONDO:0009846 "ICD9:271.8" -MONDO:0009846 "ICD10:E74.8" MONDO:0009846 "OMIM:260800" MONDO:0009846 "MESH:C536652" MONDO:0009846 "SCTID:190764000" +MONDO:0009846 "ICD10CM:E74.8" NCBITaxon:2704647 "GC_ID:1" CL:0002586 "FMA:75802" CL:0002586 "BTO:0004910" MONDO:0016606 "Orphanet:247638" MONDO:0016606 "UMLS:CN201801" -MONDO:0016606 "ICD10:E83.3" +MONDO:0016606 "ICD10CM:E83.3" MONDO:0037002 "NCIT:C4274" MONDO:0037002 "ICDO:9020/0" MONDO:0013706 "OMIM:614344" MONDO:0013706 "UMLS:C3280542" MONDO:0018806 "Orphanet:480506" MONDO:0001171 "ICD9:614.0" -MONDO:0001171 "ICD10:N70.03" MONDO:0001171 "UMLS:C0156327" MONDO:0001171 "DOID:10971" -MONDO:0001171 "ICD10:N70.0" MONDO:0001171 "SCTID:266581008" MONDO:0012880 "UMLS:C3552553" -MONDO:0012880 "ICD10:E23.0" MONDO:0012880 "MESH:C567220" MONDO:0012880 "OMIM:612370" MONDO:0012880 "GARD:0010773" @@ -29534,9 +28840,9 @@ MONDO:0006657 "ICD9:255.3" MONDO:0006657 "EFO:1000817" MONDO:0006657 "DOID:4367" MONDO:0006657 "UMLS:C0342488" +MONDO:0016818 "ICD10CM:E22.8" MONDO:0016818 "UMLS:CN202088" MONDO:0016818 "Orphanet:2558" -MONDO:0016818 "ICD10:E22.8" MONDO:0018078 "EFO:1001968" MONDO:0018078 "NCIT:C9306" MONDO:0018078 "UMLS:CN204398" @@ -29553,13 +28859,13 @@ HP:0000789 "SNOMEDCT_US:15296000" MONDO:0008399 "OMIM:181000" MONDO:0008399 "Orphanet:797" MONDO:0008399 "ICD9:135" -MONDO:0015204 "ICD10:Q04.3" MONDO:0015204 "Orphanet:1083" +MONDO:0015204 "ICD10CM:Q04.3" MONDO:0015204 "OMIM:614019" MONDO:0015204 "OMIM:616212" MONDO:0015204 "UMLS:C1956147" +MONDO:0018464 "ICD10CM:E79.8" MONDO:0018464 "Orphanet:411543" -MONDO:0018464 "ICD10:E79.8" MONDO:0018464 "UMLS:CN237444" MONDO:0018464 "OMIM:300661" MONDO:0001299 "MESH:D003929" @@ -29575,11 +28881,10 @@ MONDO:0001475 "UMLS:C0027947" MONDO:0001475 "MESH:D009503" MONDO:0001475 "SCTID:303011007" MONDO:0001475 "ICD9:288.0" -MONDO:0001475 "ICD10:D70" MONDO:0001475 "ICD9:288.00" +MONDO:0001475 "ICD10CM:D70" MONDO:0001475 "DOID:1227" MONDO:0001475 "HP:0001875" -MONDO:0001475 "ICD10:D70.9" MONDO:0011525 "OMIM:605244" MONDO:0011525 "Orphanet:1359" MONDO:0010310 "Orphanet:2780" @@ -29588,10 +28893,10 @@ MONDO:0010310 "DOID:0060886" MONDO:0010310 "SCTID:254129003" MONDO:0010310 "EFO:0005834" MONDO:0010310 "GARD:0004148" -MONDO:0010310 "ICD10:Q78.8" MONDO:0010310 "UMLS:C0432268" MONDO:0010310 "MESH:C536053" MONDO:0010310 "OMIM:300373" +MONDO:0010310 "ICD10CM:Q78.8" HP:0100640 "UMLS:C0339880" HP:0100640 "SNOMEDCT_US:195867000" MONDO:0020668 "OMIM:600146" @@ -29599,7 +28904,6 @@ MONDO:0020668 "GARD:0004917" MONDO:0041775 "UMLS:C1688637" MONDO:0041775 "SCTID:418801006" MONDO:0019496 "NCIT:C3809" -MONDO:0019496 "ICD10:D3A.8" MONDO:0019496 "SCTID:255046005" MONDO:0019496 "ICD9:209" MONDO:0019496 "UMLS:C0003650" @@ -29610,15 +28914,14 @@ MONDO:0019496 "ICD9:239.7" MONDO:0019496 "DOID:169" MONDO:0019496 "UMLS:C0206754" MONDO:0019496 "EFO:1001901" +MONDO:0019496 "ICD10CM:D3A-D3A" MONDO:0019496 "Orphanet:877" MONDO:0033304 "OMIMPS:400043" MONDO:0008586 "GARD:0007792" MONDO:0008586 "OMIM:189960" -MONDO:0008586 "ICD10:Q39.1" MONDO:0008586 "Orphanet:1199" MONDO:0008586 "SCTID:95435007" MONDO:0008586 "MedDRA:10030146" -MONDO:0008586 "ICD10:Q39.0" MONDO:0008586 "DOID:0080171" MONDO:0008586 "MedDRA:10021530" MONDO:0008586 "MESH:C531835" @@ -29626,7 +28929,7 @@ MONDO:0019325 "SCTID:703284009" MONDO:0019325 "ICD9:759.6" MONDO:0019325 "Orphanet:79483" MONDO:0019325 "UMLS:CN205984" -MONDO:0019325 "ICD10:Q85.8" +MONDO:0019325 "ICD10CM:Q85.8" MONDO:0018651 "Orphanet:447795" MONDO:0007389 "OMIM:122600" MONDO:0007389 "GARD:0012806" @@ -29637,13 +28940,13 @@ MONDO:0014278 "UMLS:C3810127" MONDO:0014278 "OMIM:615615" MONDO:0014278 "Orphanet:169160" MONDO:0000463 "MESH:C536480" -MONDO:0000463 "ICD10:N31.8" MONDO:0000463 "DOID:0050816" MONDO:0000463 "SCTID:236533008" MONDO:0000463 "OMIMPS:236730" MONDO:0000463 "Orphanet:2704" MONDO:0000463 "GARD:0000104" MONDO:0000463 "OMIM:615112" +MONDO:0000463 "ICD10CM:N31.8" MONDO:0000463 "OMIM:236730" MONDO:0006366 "NCIT:C36205" MONDO:0006366 "UMLS:C1335398" @@ -29660,20 +28963,20 @@ MONDO:0020715 "OMIM:146500" MONDO:0016693 "NCIT:C3696" MONDO:0016693 "DOID:5077" MONDO:0016693 "SCTID:449799008" +MONDO:0016693 "ICD10CM:D43.2" MONDO:0016693 "Orphanet:251618" MONDO:0016693 "UMLS:C0205768" MONDO:0016693 "ICDO:9384/1" MONDO:0016693 "MESH:D001254" -MONDO:0016693 "ICD10:D43.2" MONDO:0016693 "GARD:0010632" MONDO:0019208 "SCTID:427086003" -MONDO:0019208 "ICD10:G61.0" +MONDO:0019208 "ICD10CM:G61.0" MONDO:0019208 "UMLS:C1960543" MONDO:0019208 "Orphanet:79138" MONDO:0019208 "ICD9:323.81" NCBITaxon:2743694 "GC_ID:1" +MONDO:0017511 "ICD10CM:Q71.6" MONDO:0017511 "Orphanet:295120" -MONDO:0017511 "ICD10:Q71.6" MONDO:0002090 "NCIT:C6796" MONDO:0002090 "UMLS:C1333371" MONDO:0002090 "DOID:173" @@ -29698,13 +29001,11 @@ MONDO:0010837 "ICD9:252.01" MONDO:0010837 "GARD:0008612" MONDO:0010837 "HP:0008200" MONDO:0010837 "Orphanet:99878" -MONDO:0010837 "MESH:D049950" MONDO:0010837 "EFO:0008519" -MONDO:0010837 "ICD10:E21.0" +MONDO:0010837 "MESH:D049950" MONDO:0010837 "DOID:11202" MONDO:0010837 "NCIT:C48280" MONDO:0010837 "SCTID:36348003" -MONDO:0011031 "ICD10:H90.3" MONDO:0011031 "DOID:0110542" MONDO:0011031 "MESH:C563354" MONDO:0011031 "UMLS:C1832476" @@ -29752,7 +29053,6 @@ MONDO:0030921 "OMIM:617831" MONDO:0030921 "DOID:0080227" MONDO:0030921 "UMLS:CN757796" MONDO:0016608 "HP:0001355" -MONDO:0016608 "ICD10:Q04.5" MONDO:0016608 "SCTID:9740002" MONDO:0016608 "MedDRA:10050183" MONDO:0016608 "OMIM:248000" @@ -29770,55 +29070,54 @@ MONDO:0018808 "UMLS:CN776859" MONDO:0018808 "Orphanet:480520" MONDO:0005929 "MESH:D019052" MONDO:0005929 "NCIT:C92852" -MONDO:0005929 "ICD10:F53" MONDO:0005929 "EFO:0007453" MONDO:0005929 "DOID:9478" MONDO:0005929 "SCTID:279225001" +MONDO:0017639 "ICD10CM:G21.2" MONDO:0017639 "SCTID:230293003" MONDO:0017639 "Orphanet:306686" MONDO:0017639 "UMLS:C0393565" -MONDO:0017639 "ICD10:G21.2" MONDO:0004888 "DOID:9811" MONDO:0004888 "UMLS:C0154895" MONDO:0004888 "ICD9:363.51" MONDO:0004888 "SCTID:193466003" +MONDO:0005706 "ICD10CM:B38.3" MONDO:0005706 "GARD:0009525" MONDO:0005706 "UMLS:CN201384" -MONDO:0005706 "ICD10:B38.1" -MONDO:0005706 "ICD10:B38.4" +MONDO:0005706 "ICD10CM:B38.9" MONDO:0005706 "DOID:13450" -MONDO:0005706 "ICD10:B38.7" MONDO:0005706 "ICD9:114.9" +MONDO:0005706 "ICD10CM:B38" MONDO:0005706 "Orphanet:228123" +MONDO:0005706 "ICD10CM:B38.1" MONDO:0005706 "NCIT:C84642" +MONDO:0005706 "ICD10CM:B38.4" MONDO:0005706 "EFO:0007211" MONDO:0005706 "ICD9:114.1" MONDO:0005706 "MedDRA:10009825" +MONDO:0005706 "ICD10CM:B38.7" MONDO:0005706 "ICD9:114" -MONDO:0005706 "ICD10:B38.2" -MONDO:0005706 "ICD10:B38" MONDO:0005706 "MESH:D003047" -MONDO:0005706 "ICD10:B38.8" MONDO:0005706 "UMLS:C0700644" -MONDO:0005706 "ICD10:B38.0" -MONDO:0005706 "ICD10:B38.3" +MONDO:0005706 "ICD10CM:B38.2" +MONDO:0005706 "ICD10CM:B38.8" MONDO:0005706 "SCTID:23247008" MONDO:0005706 "UMLS:C0009186" -MONDO:0005706 "ICD10:B38.9" +MONDO:0005706 "ICD10CM:B38.0" MONDO:0021455 "SCTID:92246000" MONDO:0021455 "UMLS:C0684815" MONDO:0021455 "ICD9:229.8" MONDO:0021455 "NCIT:C4884" -MONDO:0018314 "ICD10:G40.2" +MONDO:0018314 "ICD10CM:G40.2" MONDO:0018314 "Orphanet:391316" MONDO:0018314 "UMLS:CN204956" HP:0045058 "UMLS:C4073180" -MONDO:0013956 "ICD10:D84.8" MONDO:0013956 "UMLS:C4013950" MONDO:0013956 "OMIM:614892" MONDO:0013956 "Orphanet:319595" +MONDO:0013956 "ICD10CM:D84.8" MONDO:0019440 "SCTID:32599008" -MONDO:0019440 "ICD10:E85.3" +MONDO:0019440 "ICD10CM:E85.3" MONDO:0019440 "GARD:0010563" MONDO:0019440 "UMLS:CN206197" MONDO:0019440 "Orphanet:85446" @@ -29832,11 +29131,11 @@ MONDO:0011527 "Orphanet:99951" MONDO:0011527 "GARD:0009203" MONDO:0011527 "SCTID:763135001" MONDO:0011527 "MESH:C535301" +MONDO:0011527 "ICD10CM:G60.0" MONDO:0011527 "OMIM:605253" -MONDO:0011527 "ICD10:G60.0" MONDO:0011527 "DOID:0110195" MONDO:0018243 "Orphanet:369847" -MONDO:0018243 "ICD10:G71.0" +MONDO:0018243 "ICD10CM:G71.0" MONDO:0018243 "OMIM:615356" MONDO:0018243 "UMLS:CN204803" MONDO:0015857 "Orphanet:180199" @@ -29844,8 +29143,8 @@ MONDO:0015857 "UMLS:CN200458" MONDO:0008436 "SCTID:238776001" MONDO:0008436 "UMLS:C0282492" MONDO:0008436 "EFO:1001186" +MONDO:0008436 "ICD10CM:I77.8" MONDO:0008436 "Orphanet:820" -MONDO:0008436 "ICD10:I77.8" MONDO:0008436 "MedDRA:10053841" MONDO:0008436 "MESH:D018860" MONDO:0008436 "OMIM:182410" @@ -29858,7 +29157,7 @@ MONDO:0014677 "Orphanet:49382" MONDO:0012099 "UMLS:C1837530" MONDO:0012099 "OMIM:608688" MONDO:0012099 "UMLS:C4510943" -MONDO:0012099 "ICD10:E79.8" +MONDO:0012099 "ICD10CM:E79.8" MONDO:0012099 "Orphanet:250977" MONDO:0012099 "SCTID:725289009" MONDO:0012099 "MESH:C563876" @@ -29866,7 +29165,6 @@ MONDO:0022896 "GARD:0001591" MONDO:0018501 "Orphanet:423771" MONDO:0007239 "OMIM:607602" MONDO:0007239 "SCTID:254167000" -MONDO:0007239 "ICD10:Q80.3" MONDO:0007239 "MESH:D017488" MONDO:0007239 "NCIT:C62569" MONDO:0007239 "DOID:4603" @@ -29881,14 +29179,14 @@ MONDO:0022037 "UMLS:C0079746" MONDO:0022037 "MESH:D016400" MONDO:0022037 "GARD:0008219" MONDO:0016285 "Orphanet:213817" -MONDO:0016285 "ICD10:C53.1" -MONDO:0016285 "ICD10:C53.8" +MONDO:0016285 "ICD10CM:C53.0" +MONDO:0016285 "ICD10CM:C53.8" +MONDO:0016285 "ICD10CM:C53.1" MONDO:0016285 "UMLS:CN201075" -MONDO:0016285 "ICD10:C53.0" MONDO:0010768 "NCIT:C3754" +MONDO:0010768 "ICD10CM:D39.1" MONDO:0010768 "MESH:D018238" MONDO:0010768 "DOID:3301" -MONDO:0010768 "ICD10:D39.1" MONDO:0010768 "ONCOTREE:OGBL" MONDO:0010768 "ICDO:9073/1" MONDO:0010768 "UMLS:C0206661" @@ -29897,7 +29195,6 @@ MONDO:0012968 "MESH:C567227" MONDO:0012968 "OMIM:612632" MONDO:0012968 "Orphanet:886" MONDO:0012968 "DOID:0110835" -MONDO:0012968 "ICD10:H35.5" MONDO:0012968 "Orphanet:231169" MONDO:0011714 "OMIM:606721" MONDO:0011714 "UMLS:C3807567" @@ -29910,15 +29207,15 @@ MONDO:0015070 "UMLS:C1334374" MONDO:0015070 "SCTID:707625001" MONDO:0015070 "Orphanet:100083" MONDO:0019661 "UMLS:CN206535" -MONDO:0019661 "ICD10:Q87.0" +MONDO:0019661 "ICD10CM:Q87.0" MONDO:0019661 "Orphanet:93260" +MONDO:0009838 "ICD10CM:L91.8" MONDO:0009838 "NCIT:C126559" MONDO:0009838 "Orphanet:2812" MONDO:0009838 "GARD:0002598" MONDO:0009838 "MESH:C564905" MONDO:0009838 "OMIM:260530" MONDO:0009838 "UMLS:C1850079" -MONDO:0009838 "ICD10:L91.8" MONDO:0054763 "OMIM:617916" MONDO:0054763 "UMLS:CN895590" MONDO:0012021 "UMLS:C3888211" @@ -29932,7 +29229,6 @@ MONDO:0003155 "ICDO:9121/0" MONDO:0003155 "SCTID:56975005" MONDO:0003155 "UMLS:C0018920" MONDO:0003155 "DOID:483" -MONDO:0003155 "ICD10:D18.0" MONDO:0003155 "SCTID:416824008" MONDO:0003155 "NCIT:C3086" MONDO:0003155 "EFO:1000151" @@ -29946,12 +29242,10 @@ HP:0001883 "SNOMEDCT_US:398309008" HP:0001883 "UMLS:C1301937" HP:0001883 "MSH:D000070558" HP:0001883 "UMLS:C3552713" -MONDO:0006531 "ICD10:H71.00" MONDO:0006531 "EFO:1000676" MONDO:0006531 "UMLS:C0155489" MONDO:0006531 "SCTID:38708003" MONDO:0006531 "ICD9:385.31" -MONDO:0006531 "ICD10:H71.0" MONDO:0006531 "DOID:10963" HP:0010541 "UMLS:C4072877" HP:0010541 "SNOMEDCT_US:51603000" @@ -29972,24 +29266,24 @@ MONDO:0016472 "MedDRA:10013618" MONDO:0016472 "UMLS:C0013100" MONDO:0016472 "EFO:0007241" MONDO:0016472 "NCIT:C84677" -MONDO:0016472 "ICD10:B72" +MONDO:0016472 "ICD10CM:B72" MONDO:0006509 "DOID:3113" MONDO:0006509 "MESH:D002291" MONDO:0006509 "UMLS:C0007133" MONDO:0006509 "NCIT:C2927" MONDO:0006509 "EFO:1000646" MONDO:0006509 "ICDO:8050/3" -MONDO:0019989 "ICD10:N05.7" +MONDO:0019989 "ICD10CM:N05.7" MONDO:0019989 "Orphanet:97564" HP:0030236 "UMLS:C4022563" -MONDO:0011348 "ICD10:Q69.1" -MONDO:0011348 "ICD10:Q69.2" MONDO:0011348 "OMIM:603596" +MONDO:0011348 "ICD10CM:Q69.2" MONDO:0011348 "GARD:0004410" -MONDO:0011348 "ICD10:Q69.9" +MONDO:0011348 "ICD10CM:Q69.0" MONDO:0011348 "MedDRA:10036063" MONDO:0011348 "Orphanet:2913" -MONDO:0011348 "ICD10:Q69.0" +MONDO:0011348 "ICD10CM:Q69.1" +MONDO:0011348 "ICD10CM:Q69.9" MONDO:0013462 "UMLS:C3151219" MONDO:0013462 "OMIM:613852" MONDO:0003342 "NCIT:C6529" @@ -30001,8 +29295,8 @@ MONDO:0013548 "UMLS:C0342735" MONDO:0013548 "OMIM:614055" HP:0002140 "UMLS:C0948008" HP:0002140 "SNOMEDCT_US:422504002" +MONDO:0019826 "ICD10CM:Q24.5" MONDO:0019826 "Orphanet:95493" -MONDO:0019826 "ICD10:Q24.5" MONDO:0007972 "EFO:0006862" MONDO:0007972 "ICD9:386.0" MONDO:0007972 "OMIM:156000" @@ -30010,31 +29304,26 @@ MONDO:0007972 "SCTID:13445001" MONDO:0007972 "ICD9:386.00" MONDO:0007972 "DOID:9849" MONDO:0007972 "MESH:D008575" -MONDO:0007972 "ICD10:H81.0" MONDO:0007972 "UMLS:C0025281" MONDO:0007972 "Orphanet:45360" -MONDO:0007972 "ICD10:H81.09" MONDO:0015577 "UMLS:CN199940" MONDO:0015577 "Orphanet:163588" MONDO:0006919 "MESH:D011191" MONDO:0006919 "MedDRA:10036445" MONDO:0006919 "EFO:1001120" -MONDO:0004667 "SCTID:363381003" MONDO:0004667 "ICD9:142.2" +MONDO:0004667 "SCTID:363381003" MONDO:0004667 "DOID:8849" MONDO:0004667 "UMLS:C0153361" MONDO:0004667 "NCIT:C3527" -MONDO:0004667 "ICD10:C08.1" MONDO:0032566 "OMIM:618156" MONDO:0018629 "UMLS:CN237672" MONDO:0018629 "Orphanet:443804" MONDO:0018629 "OMIM:184850" -MONDO:0018629 "ICD10:G25.8" +MONDO:0018629 "ICD10CM:G25.8" MONDO:0001210 "NCIT:C79552" MONDO:0001210 "UMLS:C0014306" -MONDO:0001210 "ICD10:H05.4" MONDO:0001210 "SCTID:80093006" -MONDO:0001210 "ICD10:H05.40" MONDO:0001210 "MESH:D015841" MONDO:0001210 "HP:0000490" MONDO:0001210 "ICD9:376.50" @@ -30054,7 +29343,6 @@ MONDO:0002447 "ONCOTREE:UCEC" MONDO:0002447 "DOID:2871" MONDO:0002447 "HP:0012114" MONDO:0002447 "NCIT:C7558" -MONDO:0010293 "ICD10:D82.8" MONDO:0010293 "UMLS:C1846006" MONDO:0010293 "OMIMPS:300291" MONDO:0010293 "OMIM:300291" @@ -30062,6 +29350,7 @@ MONDO:0010293 "GARD:0009936" MONDO:0010293 "MESH:C536181" MONDO:0010293 "Orphanet:98813" MONDO:0010293 "NCIT:C118844" +MONDO:0010293 "ICD10CM:D82.8" MONDO:0010293 "SCTID:703525006" MONDO:0010293 "OMIM:612132" MONDO:0010293 "Orphanet:238468" @@ -30069,17 +29358,17 @@ MONDO:0005980 "EFO:0007508" MONDO:0005980 "MESH:D013984" MONDO:0005980 "DOID:4109" MONDO:0005980 "UMLS:C0040196" -MONDO:0014152 "OMIM:615373" -MONDO:0014152 "UMLS:C3809288" -MONDO:0014152 "Orphanet:54260" +MONDO:0012789 "ICD10CM:G24.1" MONDO:0012789 "MESH:C567430" MONDO:0012789 "DOID:0090048" MONDO:0012789 "GARD:0010539" -MONDO:0012789 "ICD10:G24.1" MONDO:0012789 "OMIM:612067" MONDO:0012789 "Orphanet:210571" MONDO:0012789 "UMLS:C2677567" MONDO:0012789 "SCTID:722435003" +MONDO:0014152 "OMIM:615373" +MONDO:0014152 "UMLS:C3809288" +MONDO:0014152 "Orphanet:54260" HP:0000828 "MSH:D010279" HP:0000828 "UMLS:C0030517" HP:0000828 "UMLS:C4025822" @@ -30101,7 +29390,7 @@ CL:0000015 "VHOG:0001531" CL:0000015 "FMA:72290" MONDO:0012517 "GARD:0012503" MONDO:0012517 "Orphanet:355" -MONDO:0012517 "ICD10:E75.2" +MONDO:0012517 "ICD10CM:E75.2" MONDO:0012517 "OMIM:610539" MONDO:0012517 "UMLS:C1864651" MONDO:0012517 "Orphanet:309252" @@ -30118,7 +29407,7 @@ MONDO:0007300 "MESH:C537946" MONDO:0007300 "OMIM:117600" MONDO:0007300 "UMLS:C1861714" MONDO:0007300 "GARD:0010073" -MONDO:0001688 "ICD10:H46.3" +MONDO:0001688 "ICD10CM:H46.3" MONDO:0001688 "DOID:13329" MONDO:0001688 "ICD9:377.34" MONDO:0001688 "SCTID:26125006" @@ -30128,7 +29417,7 @@ MONDO:0003888 "NCIT:C6539" MONDO:0003888 "UMLS:C1333008" MONDO:0020707 "NCIT:C34662" NCBITaxon:216275 "GC_ID:1" -MONDO:0013393 "ICD10:Q93.5" +MONDO:0013393 "ICD10CM:Q93.5" MONDO:0013393 "Orphanet:254351" MONDO:0013393 "OMIM:613729" MONDO:0013393 "UMLS:C3150999" @@ -30140,21 +29429,20 @@ MONDO:0056797 "DOID:0080312" MONDO:0056797 "UMLS:C4479613" MONDO:0030030 "OMIM:618872" MONDO:0016064 "MedDRA:10009269" -MONDO:0016064 "SCTID:63567004" MONDO:0016064 "NCIT:C87069" -MONDO:0016064 "ICD10:Q35.9" -MONDO:0016064 "ICD10:Q35.1" -MONDO:0016064 "ICD10:Q35" -MONDO:0016064 "ICD10:Q35.3" +MONDO:0016064 "SCTID:63567004" +MONDO:0016064 "ICD10CM:Q35.5" MONDO:0016064 "DOID:674" -MONDO:0016064 "ICD10:Q35.7" +MONDO:0016064 "ICD10CM:Q35.3" +MONDO:0016064 "ICD10CM:Q35.9" MONDO:0016064 "UMLS:C0008925" MONDO:0016064 "ICD9:749.0" MONDO:0016064 "OMIM:119540" -MONDO:0016064 "ICD10:Q35.5" MONDO:0016064 "Orphanet:99772" +MONDO:0016064 "ICD10CM:Q35.7" MONDO:0016064 "MESH:D002972" MONDO:0016064 "ICD9:749.00" +MONDO:0016064 "ICD10CM:Q35.1" MONDO:0016064 "Orphanet:2014" NCBITaxon:5855 "GC_ID:1" NCBITaxon:318478 "GC_ID:1" @@ -30167,7 +29455,6 @@ MONDO:0002905 "DOID:4189" MONDO:0024468 "ICD9:253.4" MONDO:0024468 "SCTID:51742006" MONDO:0024468 "ICD9:253.9" -MONDO:0006783 "ICD10:J94.2" MONDO:0006783 "MESH:D006468" MONDO:0006783 "SCTID:16632002" MONDO:0006783 "ICD9:511.89" @@ -30192,9 +29479,9 @@ MONDO:0007404 "SCTID:70173007" MONDO:0007404 "Orphanet:281" MONDO:0007404 "NCIT:C34518" MONDO:0007404 "UMLS:CN776901" +MONDO:0007404 "ICD10CM:Q93.4" MONDO:0007404 "ICD9:758.39" MONDO:0007404 "DOID:12580" -MONDO:0007404 "ICD10:Q93.4" MONDO:0007404 "UMLS:C0010314" MONDO:0015009 "OMIM:617300" CL:0002188 "FMA:70970" @@ -30205,24 +29492,24 @@ MONDO:0012109 "OMIM:608742" MONDO:0012109 "UMLS:C1837479" NCBITaxon:481310 "GC_ID:1" MONDO:0015376 "SCTID:73371000119103" -MONDO:0015376 "ICD10:Q18.0" +MONDO:0015376 "ICD10CM:Q18.0" MONDO:0015376 "Orphanet:141013" -MONDO:0014467 "ICD10:G60.0" MONDO:0014467 "Orphanet:435998" +MONDO:0014467 "ICD10CM:G60.0" MONDO:0014467 "DOID:0110203" MONDO:0014467 "OMIM:616039" MONDO:0014467 "UMLS:C4015029" MONDO:0016322 "SCTID:707435002" MONDO:0016322 "UMLS:C3161105" -MONDO:0016322 "ICD10:J84.841" +MONDO:0016322 "ICD10CM:J84.841" MONDO:0016322 "NCIT:C120169" MONDO:0016322 "Orphanet:217560" MONDO:0011283 "OMIM:603041" MONDO:0011283 "Orphanet:298" MONDO:0011283 "DOID:0080119" MONDO:0030947 "OMIM:619173" -MONDO:0001163 "ICD10:F60.0" MONDO:0001163 "ICD9:301.0" +MONDO:0001163 "ICD10CM:F60.0" MONDO:0001163 "SCTID:13601005" MONDO:0001163 "MESH:D010260" MONDO:0001163 "DOID:10938" @@ -30230,8 +29517,8 @@ MONDO:0001163 "NCIT:C92630" MONDO:0018087 "MESH:D006482" MONDO:0018087 "UMLS:C0282687" MONDO:0018087 "NCIT:C36170" -MONDO:0018087 "UMLS:CN204409" MONDO:0018087 "SCTID:240523007" +MONDO:0018087 "UMLS:CN204409" MONDO:0018087 "UMLS:C0019104" MONDO:0018087 "Orphanet:341" MONDO:0018087 "GARD:0005494" @@ -30244,14 +29531,14 @@ HP:0000759 "UMLS:C4025831" HP:0000759 "MSH:D010523" MONDO:0032931 "OMIM:618810" MONDO:0015521 "OMIM:603896" -MONDO:0015521 "ICD10:E75.2" +MONDO:0015521 "ICD10CM:E75.2" MONDO:0015521 "Orphanet:157719" MONDO:0015521 "UMLS:CN199660" +MONDO:0019263 "ICD10CM:E80.0" MONDO:0019263 "MedDRA:10015289" MONDO:0019263 "MESH:D046351" MONDO:0019263 "Orphanet:79278" MONDO:0019263 "OMIM:177000" -MONDO:0019263 "ICD10:E80.0" NCBITaxon:1511900 "GC_ID:1" NCBITaxon:727 "GC_ID:11" MONDO:0001000 "NCIT:C27559" @@ -30259,9 +29546,9 @@ MONDO:0001000 "SCTID:233759002" MONDO:0001000 "DOID:10319" MONDO:0001000 "ICD9:503" MONDO:0001000 "UMLS:C0340184" -MONDO:0017700 "ICD10:E74.0" MONDO:0017700 "UMLS:C1856305" MONDO:0017700 "Orphanet:308698" +MONDO:0017700 "ICD10CM:E74.0" MONDO:0017700 "OMIM:232500" MONDO:0004517 "ICD9:016.20" MONDO:0004517 "DOID:827" @@ -30270,18 +29557,16 @@ MONDO:0004517 "UMLS:C0152800" MONDO:0004517 "ICD9:016.2" MONDO:0012685 "OMIM:611535" MONDO:0012685 "MESH:C567074" -MONDO:0016962 "GARD:0001923" -MONDO:0016962 "Orphanet:262923" NCBITaxon:118655 "GC_ID:1" MONDO:0003656 "MESH:D006456" MONDO:0003656 "NCIT:C34677" MONDO:0003656 "UMLS:C0019048" MONDO:0003656 "ICD9:791.2" MONDO:0003656 "DOID:582" -MONDO:0003656 "ICD10:R82.3" +MONDO:0003656 "ICD10CM:R82.3" MONDO:0017054 "OMIM:248600" -MONDO:0017054 "ICD10:E71.0" MONDO:0017054 "Orphanet:268184" +MONDO:0017054 "ICD10CM:E71.0" MONDO:0004175 "UMLS:C1513711" MONDO:0004175 "DOID:7293" MONDO:0004175 "NCIT:C8717" @@ -30295,23 +29580,22 @@ MONDO:0015742 "Orphanet:171676" MONDO:0015742 "DOID:13088" MONDO:0015742 "ICD9:742.8" MONDO:0015742 "MedDRA:10052594" -MONDO:0015742 "ICD10:P91.2" MONDO:0015742 "EFO:1001101" MONDO:0007398 "MESH:C565144" MONDO:0007398 "OMIM:123050" -MONDO:0007398 "ICD10:Q30.8" MONDO:0007398 "Orphanet:157832" +MONDO:0007398 "ICD10CM:Q30.8" MONDO:0007398 "UMLS:C1852501" MONDO:0009018 "SCTID:419074008" MONDO:0009018 "OMIM:217600" -MONDO:0009018 "ICD10:H18.5" +MONDO:0009018 "ICD10CM:H18.5" MONDO:0009018 "UMLS:C1622427" MONDO:0009018 "Orphanet:98972" MONDO:0009018 "MESH:C563262" MONDO:0013737 "UMLS:C2828721" MONDO:0013737 "OMIM:614409" MONDO:0013737 "DOID:0110798" -MONDO:0013737 "ICD10:G11.4" +MONDO:0013737 "ICD10CM:G11.4" MONDO:0013737 "Orphanet:320391" MONDO:0013737 "UMLS:C4510081" MONDO:0013737 "SCTID:723822009" @@ -30325,7 +29609,7 @@ MONDO:0006375 "MESH:D006391" MONDO:0005121 "EFO:0000780" MONDO:0010115 "MESH:C564774" MONDO:0010115 "Orphanet:1861" -MONDO:0010115 "ICD10:Q87.8" +MONDO:0010115 "ICD10CM:Q87.8" MONDO:0010115 "UMLS:C1848864" MONDO:0010115 "OMIM:273730" MONDO:0010115 "GARD:0005180" @@ -30334,8 +29618,8 @@ MONDO:0002612 "DOID:3331" MONDO:0002612 "SCTID:230394006" MONDO:0002612 "MESH:D017034" MONDO:0022610 "GARD:0001023" +MONDO:0019692 "ICD10CM:Q78.8" MONDO:0019692 "Orphanet:93429" -MONDO:0019692 "ICD10:Q78.8" MONDO:0013900 "UMLS:C3553788" MONDO:0013900 "OMIM:614820" MONDO:0013900 "Orphanet:2131" @@ -30345,7 +29629,7 @@ MONDO:0024247 "SCTID:254715009" MONDO:0003186 "NCIT:C5342" MONDO:0003186 "DOID:4878" MONDO:0003186 "UMLS:C1333441" -MONDO:0018495 "ICD10:E79.8" +MONDO:0018495 "ICD10CM:E79.8" MONDO:0018495 "Orphanet:423479" MONDO:0018495 "UMLS:CN237501" MONDO:0001874 "UMLS:C0155507" @@ -30387,7 +29671,6 @@ MONDO:0011556 "GARD:0009303" MONDO:0010807 "UMLS:C1838701" MONDO:0010807 "MESH:C564007" MONDO:0010807 "DOID:0110477" -MONDO:0010807 "ICD10:H90.3" MONDO:0010807 "OMIM:600060" NCBITaxon:1783272 "PMID:23851394" NCBITaxon:1783272 "PMID:18988685" @@ -30409,11 +29692,11 @@ MONDO:0044807 "NCIT:C35527" MONDO:0044807 "OMIMPS:128100" MONDO:0044807 "UMLS:CN227322" MONDO:0044807 "Orphanet:391799" +MONDO:0012277 "ICD10CM:G71.8" MONDO:0012277 "MESH:C563718" MONDO:0012277 "Orphanet:98912" MONDO:0012277 "OMIM:609452" MONDO:0012277 "GARD:0001886" -MONDO:0012277 "ICD10:G71.8" MONDO:0012277 "DOID:0080095" MONDO:0012277 "UMLS:C1836155" MONDO:0007964 "NCIT:C7584" @@ -30424,6 +29707,7 @@ MONDO:0007964 "DOID:10041" MONDO:0007964 "MESH:D004416" CL:1000854 "KUPO:0001014" MONDO:0010797 "DOID:0060067" +MONDO:0010797 "ICD10CM:D64.0" MONDO:0010797 "OMIM:557000" MONDO:0010797 "GARD:0007343" MONDO:0010797 "ICD9:277.87" @@ -30432,13 +29716,12 @@ MONDO:0010797 "UMLS:C0342784" MONDO:0010797 "MedDRA:10062941" MONDO:0010797 "SCTID:237985009" MONDO:0010797 "Orphanet:699" -MONDO:0010797 "ICD10:D64.0" MONDO:0012160 "MESH:C563825" MONDO:0012160 "GARD:0010647" -MONDO:0012160 "ICD10:Q77.8" MONDO:0012160 "OMIM:608940" MONDO:0012160 "Orphanet:85167" MONDO:0012160 "UMLS:C1837073" +MONDO:0012160 "ICD10CM:Q77.8" HP:0002652 "MSH:D010009" HP:0002652 "SNOMEDCT_US:105985007" HP:0002652 "UMLS:C4280567" @@ -30456,14 +29739,14 @@ MONDO:0024633 "NCIT:C4757" MONDO:0008992 "OMIM:216100" MONDO:0008992 "Orphanet:2319" MONDO:0008992 "MESH:C537690" +MONDO:0008992 "ICD10CM:Q87.0" MONDO:0008992 "GARD:0003060" -MONDO:0008992 "ICD10:Q87.0" MONDO:0008992 "UMLS:C0796099" MONDO:0008992 "SCTID:721874001" MONDO:0014317 "UMLS:C3810350" +MONDO:0014317 "ICD10CM:D61.0" MONDO:0014317 "OMIM:615715" MONDO:0014317 "Orphanet:401764" -MONDO:0014317 "ICD10:D61.0" MONDO:0013230 "Orphanet:166412" MONDO:0013230 "OMIM:613340" MONDO:0013230 "UMLS:C3150536" @@ -30473,8 +29756,8 @@ MONDO:0032933 "OMIM:618815" MONDO:0043230 "GARD:0006113" MONDO:0043230 "SCTID:241774007" MONDO:0043230 "MESH:D036841" +MONDO:0020571 "ICD10CM:A75.0" MONDO:0020571 "Orphanet:99991" -MONDO:0020571 "ICD10:A75.0" MONDO:0020571 "UMLS:CN207497" MONDO:0003602 "NCIT:C6973" MONDO:0003602 "DOID:5714" @@ -30482,14 +29765,13 @@ MONDO:0003602 "UMLS:C1334242" MONDO:0008491 "UMLS:C0085292" MONDO:0008491 "MedDRA:10042044" MONDO:0008491 "UMLS:C1861457" -MONDO:0008491 "ICD10:G25.8" MONDO:0008491 "Orphanet:3198" MONDO:0008491 "ICD9:333.91" MONDO:0008491 "GARD:0005023" MONDO:0008491 "EFO:0007498" MONDO:0008491 "SCTID:5217008" MONDO:0008491 "NCIT:C85170" -MONDO:0008491 "ICD10:G25.82" +MONDO:0008491 "ICD10CM:G25.8" MONDO:0008491 "MESH:D016750" MONDO:0008491 "DOID:13366" MONDO:0008491 "OMIM:184850" @@ -30498,20 +29780,20 @@ MONDO:0004519 "NCIT:C6525" MONDO:0004519 "DOID:8274" MONDO:0019124 "NCIT:C70549" MONDO:0019124 "MedDRA:10063344" -MONDO:0019124 "ICD10:M31.7" MONDO:0019124 "Orphanet:727" MONDO:0019124 "SCTID:239928004" +MONDO:0019124 "ICD10CM:M31.7" MONDO:0019124 "MESH:D055953" MONDO:0019124 "EFO:1000784" MONDO:0019124 "GARD:0003652" MONDO:0019124 "UMLS:C2347126" -MONDO:0007294 "ICD10:G71.2" MONDO:0007294 "GARD:0006014" MONDO:0007294 "Orphanet:178145" MONDO:0007294 "SCTID:43152001" MONDO:0007294 "NCIT:C83010" MONDO:0007294 "Orphanet:598" MONDO:0007294 "MESH:D020512" +MONDO:0007294 "ICD10CM:G71.2" MONDO:0007294 "EFO:1000855" MONDO:0007294 "UMLS:C0751951" MONDO:0007294 "Orphanet:597" @@ -30524,37 +29806,44 @@ MONDO:0001306 "DOID:11541" MONDO:0001306 "SCTID:2055003" MONDO:0001306 "ICD9:371.42" MONDO:0001306 "HP:0000495" -MONDO:0001306 "ICD10:H18.83" MONDO:0001306 "UMLS:C0155119" MONDO:0007209 "GARD:0005232" MONDO:0007209 "Orphanet:3344" MONDO:0007209 "OMIM:112350" MONDO:0007209 "UMLS:C1862172" -MONDO:0007209 "ICD10:Q77.8" MONDO:0007209 "SCTID:715532007" +MONDO:0007209 "ICD10CM:Q77.8" MONDO:0007209 "MESH:C537082" MONDO:0002864 "UMLS:C1332276" MONDO:0002864 "NCIT:C5610" MONDO:0002864 "DOID:4066" +MONDO:0021651 "OMIM:610234" +MONDO:0021651 "ICD10:Q70.0" +MONDO:0021651 "ICD10:Q70.2" MONDO:0021651 "NCIT:C75003" +MONDO:0021651 "OMIM:186000" +MONDO:0021651 "GARD:0005087" MONDO:0021651 "SCTID:84598000" MONDO:0021651 "UMLS:C0265553" +MONDO:0021651 "Orphanet:93403" +MONDO:0021651 "OMIM:608180" +MONDO:0021651 "SCTID:715724002" MONDO:0021651 "MESH:C538153" +MONDO:0009112 "ICD10CM:Q77.3" MONDO:0009112 "GARD:0009429" MONDO:0009112 "MESH:C537607" MONDO:0009112 "UMLS:C1857242" MONDO:0009112 "Orphanet:177" MONDO:0009112 "Orphanet:309796" MONDO:0009112 "DOID:0110852" -MONDO:0009112 "ICD10:Q77.3" MONDO:0009112 "OMIM:222765" MONDO:0016615 "Orphanet:247839" -MONDO:0016615 "ICD10:M08.4" +MONDO:0016615 "ICD10CM:M08.4" MONDO:0016615 "UMLS:CN201823" MONDO:0010389 "OMIM:300645" MONDO:0010389 "MESH:C567068" -MONDO:0010389 "ICD10:D84.8" MONDO:0010389 "Orphanet:319605" +MONDO:0010389 "ICD10CM:D84.8" MONDO:0010389 "UMLS:C1970859" MONDO:0010389 "Orphanet:319623" MONDO:0012850 "DOID:0080077" @@ -30562,7 +29851,7 @@ MONDO:0012850 "UMLS:C2676786" MONDO:0012850 "Orphanet:244305" MONDO:0012850 "MESH:C567363" MONDO:0012850 "OMIM:612286" -MONDO:0015040 "ICD10:D46.2" +MONDO:0015040 "ICD10CM:D46.2" MONDO:0015040 "UMLS:C1318550" MONDO:0015040 "Orphanet:100019" MONDO:0015040 "NCIT:C7167" @@ -30579,12 +29868,12 @@ MONDO:0019503 "OMIM:107250" MONDO:0019503 "SCTID:65075004" MONDO:0019503 "OMIM:617319" MONDO:0019503 "GARD:0010025" +MONDO:0019503 "ICD10CM:Q13.8" MONDO:0019503 "ICD9:743.49" -MONDO:0019503 "ICD10:Q13.8" MONDO:0019503 "OMIMPS:107250" MONDO:0019503 "OMIM:617315" NCBITaxon:327045 "GC_ID:1" -MONDO:0018306 "ICD10:E70.3" +MONDO:0018306 "ICD10CM:E70.3" MONDO:0018306 "ICD9:270.2" MONDO:0018306 "SCTID:37548006" MONDO:0018306 "DOID:0060831" @@ -30601,9 +29890,9 @@ MONDO:0013902 "Orphanet:402075" MONDO:0013902 "DOID:0080334" MONDO:0013902 "OMIM:614823" MONDO:0022937 "GARD:0001684" +MONDO:0016481 "ICD10CM:Q87.1" MONDO:0016481 "UMLS:CN201476" MONDO:0016481 "Orphanet:231144" -MONDO:0016481 "ICD10:Q87.1" MONDO:0002038 "NCIT:C35850" MONDO:0002038 "UMLS:C1334927" MONDO:0002038 "UMLS:C3887461" @@ -30637,7 +29926,7 @@ MONDO:0018946 "SCTID:442300000" MONDO:0018946 "UMLS:C1866130" MONDO:0018946 "ICD9:742.4" MONDO:0018946 "Orphanet:59315" -MONDO:0018946 "ICD10:Q04.3" +MONDO:0018946 "ICD10CM:Q04.3" MONDO:0013033 "UMLS:C2752061" MONDO:0013033 "OMIM:612900" MONDO:0013033 "Orphanet:210141" @@ -30645,27 +29934,27 @@ MONDO:0013033 "MESH:C567867" MONDO:0011721 "Orphanet:178400" MONDO:0011721 "MESH:C564664" MONDO:0011721 "DOID:0111187" +MONDO:0011721 "ICD10CM:G71.0" MONDO:0011721 "UMLS:C1847532" MONDO:0011721 "OMIM:606768" -MONDO:0011721 "ICD10:G71.0" MONDO:0020024 "Orphanet:98047" MONDO:0020024 "UMLS:CN227735" -MONDO:0013790 "OMIM:614508" -MONDO:0013790 "Orphanet:238722" -MONDO:0013790 "UMLS:C3281089" MONDO:0000256 "SCTID:399314004" MONDO:0000256 "ICD9:117.9" MONDO:0000256 "UMLS:C0553576" MONDO:0000256 "DOID:0050136" +MONDO:0013790 "OMIM:614508" +MONDO:0013790 "Orphanet:238722" +MONDO:0013790 "UMLS:C3281089" MONDO:0003479 "ICD9:506.9" MONDO:0003479 "DOID:551" MONDO:0003479 "UMLS:C3714582" MONDO:0003479 "SCTID:233733000" MONDO:0001202 "ICD9:599.89" MONDO:0001202 "UMLS:C1443972" -MONDO:0001202 "ICD10:N42.83" MONDO:0001202 "SCTID:409658007" MONDO:0001202 "DOID:11133" +MONDO:0001202 "ICD10CM:N42.83" MONDO:0001202 "ICD9:600.3" MONDO:0004383 "DOID:7867" MONDO:0004383 "UMLS:C1370504" @@ -30678,21 +29967,20 @@ MONDO:0012138 "MESH:C563844" MONDO:0012138 "Orphanet:370968" MONDO:0012138 "UMLS:C1837229" MONDO:0012138 "OMIM:608840" -MONDO:0012138 "ICD10:G71.2" MONDO:0012138 "Orphanet:98894" MONDO:0016988 "Orphanet:263455" MONDO:0016988 "SCTID:717048002" +MONDO:0016988 "ICD10CM:E16.1" MONDO:0016988 "UMLS:C4274078" -MONDO:0016988 "ICD10:E16.1" NCBITaxon:1648030 "GC_ID:1" MONDO:0009177 "MESH:C535492" MONDO:0009177 "UMLS:C1856969" MONDO:0009177 "OMIM:226440" -MONDO:0009177 "ICD10:Q81.8" MONDO:0009177 "GARD:0000299" MONDO:0009177 "Orphanet:231556" +MONDO:0009177 "ICD10CM:Q81.8" +MONDO:0015773 "ICD10CM:Q74.8" MONDO:0015773 "SCTID:720953006" -MONDO:0015773 "ICD10:Q74.8" MONDO:0015773 "Orphanet:1757" MONDO:0015773 "UMLS:CN200350" MONDO:0003858 "DOID:6334" @@ -30706,9 +29994,9 @@ MONDO:0001697 "SCTID:52824009" MONDO:0001697 "ICD9:315.00" MONDO:0001697 "DOID:13365" MONDO:0005414 "EFO:0004609" -MONDO:0007614 "ICD10:H49.8" MONDO:0007614 "OMIM:609384" MONDO:0007614 "OMIM:609612" +MONDO:0007614 "ICD10CM:H49.8" MONDO:0007614 "UMLS:CN043677" MONDO:0007614 "OMIM:135700" MONDO:0007614 "OMIM:600638" @@ -30724,10 +30012,7 @@ MONDO:0007614 "OMIM:609428" MONDO:0007614 "OMIM:602078" MONDO:0002643 "UMLS:C0042594" MONDO:0002643 "MESH:D015837" -MONDO:0002643 "ICD10:H81" -MONDO:0002643 "ICD10:H81.9" MONDO:0002643 "DOID:3426" -MONDO:0002643 "ICD10:H81.90" MONDO:0009364 "Orphanet:588" MONDO:0009364 "OMIM:236670" MONDO:0009364 "NCIT:C128118" @@ -30735,8 +30020,8 @@ MONDO:0009364 "UMLS:C4284790" MONDO:0009364 "Orphanet:899" MONDO:0009364 "DOID:0111237" MONDO:0009364 "UMLS:CN033898" +MONDO:0017139 "ICD10CM:Q87.5" MONDO:0017139 "UMLS:CN202556" -MONDO:0017139 "ICD10:Q87.5" MONDO:0017139 "GARD:0004116" MONDO:0017139 "Orphanet:2749" FOODON:03460177 "http://www.langual.org/langual_thesaurus.asp?termid=H0177" @@ -30752,31 +30037,30 @@ MONDO:0007801 "Orphanet:99789" MONDO:0014183 "Orphanet:98619" MONDO:0014183 "UMLS:C3809482" MONDO:0014183 "OMIM:615431" +MONDO:0010671 "ICD10CM:Q11.2" +MONDO:0010671 "GARD:0005066" MONDO:0010671 "OMIM:309800" +MONDO:0010671 "MESH:C564457" +MONDO:0010671 "Orphanet:85275" MONDO:0010671 "MESH:C537464" +MONDO:0010671 "ICD9:759.89" MONDO:0010671 "SCTID:438504004" MONDO:0010671 "Orphanet:568" -MONDO:0010671 "MESH:C564457" MONDO:0010671 "SCTID:717222003" -MONDO:0010671 "ICD9:759.89" -MONDO:0010671 "Orphanet:85275" -MONDO:0010671 "GARD:0005066" -MONDO:0010671 "ICD10:Q11.2" MONDO:0001308 "SCTID:74460005" MONDO:0001308 "UMLS:C0162281" -MONDO:0001308 "ICD10:H18.0" -MONDO:0001308 "ICD10:H18.00" +MONDO:0001308 "ICD10CM:H18.0" MONDO:0001308 "ICD9:371.10" MONDO:0001308 "DOID:11547" MONDO:0033670 "OMIM:619093" +MONDO:0016260 "ICD10CM:C54.2" MONDO:0016260 "UMLS:C4288047" MONDO:0016260 "NCIT:C127058" MONDO:0016260 "Orphanet:213615" -MONDO:0016260 "ICD10:C54.2" MONDO:0013035 "DOID:0060381" MONDO:0013035 "OMIM:612913" MONDO:0013035 "Orphanet:141000" -MONDO:0013035 "ICD10:Q87.0" +MONDO:0013035 "ICD10CM:Q87.0" MONDO:0013035 "GARD:0004118" MONDO:0013035 "MESH:C557821" MONDO:0013035 "SCTID:718681002" @@ -30786,12 +30070,12 @@ MONDO:0019777 "OMIM:309580" MONDO:0013211 "UMLS:C2750091" MONDO:0013211 "DOID:0110459" MONDO:0013211 "MESH:C567654" -MONDO:0013211 "ICD10:I42.0" MONDO:0013211 "Orphanet:154" +MONDO:0013211 "ICD10CM:I42.0" MONDO:0013211 "OMIM:613286" MONDO:0016127 "SCTID:30330001" +MONDO:0016127 "ICD10CM:M60.0" MONDO:0016127 "Orphanet:206994" -MONDO:0016127 "ICD10:M60.0" MONDO:0005217 "OMIM:115200" MONDO:0005217 "EFO:0002945" MONDO:0005217 "ICD9:425.4" @@ -30807,17 +30091,17 @@ MONDO:0012711 "UMLS:C1968838" MONDO:0037003 "ICDO:9020/3" MONDO:0037003 "NCIT:C4275" MONDO:0011253 "OMIM:602558" -MONDO:0011253 "ICD10:Q87.0" MONDO:0011253 "UMLS:C1865184" +MONDO:0011253 "ICD10CM:Q87.0" MONDO:0011253 "MESH:C566522" MONDO:0011253 "GARD:0001583" MONDO:0011253 "SCTID:725098001" MONDO:0011253 "Orphanet:1524" MONDO:0014476 "Orphanet:401953" +MONDO:0014476 "ICD10CM:G11.8" MONDO:0014476 "UMLS:C4015108" MONDO:0014476 "DOID:0050996" MONDO:0014476 "OMIM:616055" -MONDO:0014476 "ICD10:G11.8" MONDO:0015368 "Orphanet:140653" MONDO:0015368 "UMLS:CN199459" MONDO:0014652 "OMIM:616468" @@ -30826,18 +30110,15 @@ MONDO:0014652 "UMLS:C4225316" MONDO:0014652 "DOID:0111410" MONDO:0001172 "SCTID:46536000" MONDO:0001172 "DOID:10972" -MONDO:0001172 "ICD10:N70" -MONDO:0001172 "ICD10:N70.9" MONDO:0001172 "UMLS:C0036133" MONDO:0001172 "ICD9:614.2" -MONDO:0001172 "ICD10:N70.93" MONDO:0017568 "Orphanet:2956" -MONDO:0017568 "ICD10:Q87.8" MONDO:0017568 "UMLS:C2931761" +MONDO:0017568 "ICD10CM:Q87.8" MONDO:0017568 "UMLS:CN203304" MONDO:0017568 "GARD:0000491" -MONDO:0008406 "ICD10:G71.0" MONDO:0008406 "OMIM:616516" +MONDO:0008406 "ICD10CM:G71.0" MONDO:0008406 "Orphanet:98855" MONDO:0008406 "UMLS:C2750035" MONDO:0008406 "MESH:D020389" @@ -30848,7 +30129,7 @@ MONDO:0013432 "Orphanet:2554" MONDO:0013432 "OMIM:613805" MONDO:0013432 "DOID:0080516" MONDO:0020259 "Orphanet:98689" -MONDO:0015205 "ICD10:Q04.3" +MONDO:0015205 "ICD10CM:Q04.3" MONDO:0015205 "UMLS:C4275151" MONDO:0015205 "Orphanet:1084" MONDO:0015205 "UMLS:CN226623" @@ -30875,16 +30156,16 @@ MONDO:0100151 "NCIT:C129932" MONDO:0100151 "MESH:C535335" MONDO:0100151 "OMIM:219800" MONDO:0014873 "NCIT:C3946" -MONDO:0014873 "ICD10:Q82.5" +MONDO:0014873 "ICD10CM:Q82.5" MONDO:0014873 "Orphanet:64754" MONDO:0014873 "OMIM:617025" MONDO:0014873 "SCTID:35962006" MONDO:0014873 "GARD:0013073" MONDO:0014873 "UMLS:C0265987" MONDO:0016607 "SCTID:708672004" -MONDO:0016607 "ICD10:E83.3" MONDO:0016607 "OMIM:146300" MONDO:0016607 "Orphanet:247685" +MONDO:0016607 "ICD10CM:E83.3" MONDO:0016607 "NCIT:C131309" MONDO:0016607 "UMLS:C1840322" MONDO:0013707 "OMIM:614345" @@ -30893,7 +30174,7 @@ MONDO:0018807 "UMLS:CN244899" MONDO:0018807 "Orphanet:480512" MONDO:0017063 "UMLS:CN202422" MONDO:0017063 "Orphanet:268377" -MONDO:0019326 "ICD10:Q85.8" +MONDO:0019326 "ICD10CM:Q85.8" MONDO:0019326 "SCTID:703286006" MONDO:0019326 "Orphanet:79484" MONDO:0019326 "ICD9:759.6" @@ -30910,24 +30191,21 @@ MONDO:0014996 "OMIM:617270" MONDO:0014996 "GARD:0013361" MONDO:0030883 "OMIM:619161" MONDO:0012303 "OMIM:609570" -MONDO:0018465 "ICD10:E16.1" MONDO:0018465 "Orphanet:411593" MONDO:0018465 "UMLS:C0854359" MONDO:0018465 "ICD9:279.49" +MONDO:0018465 "ICD10CM:E16.1" MONDO:0018465 "DOID:0040100" MONDO:0018465 "SCTID:408539000" MONDO:0018465 "GARD:0010808" CL:0000306 "FBbt:00004193" -MONDO:0017250 "ICD10:Q33.0" +MONDO:0017250 "ICD10CM:Q33.0" MONDO:0017250 "Orphanet:280840" MONDO:0002246 "DOID:222" MONDO:0002246 "ICD9:380.0" -MONDO:0002246 "ICD10:H61.0" MONDO:0002246 "ICD9:380.00" MONDO:0002246 "UMLS:C0155389" -MONDO:0002246 "ICD10:H61.00" MONDO:0002246 "SCTID:34129005" -MONDO:0002246 "ICD10:H61.009" MONDO:0001866 "SCTID:371596008" MONDO:0001866 "ICD9:296.50" MONDO:0001866 "DOID:14042" @@ -30937,11 +30215,11 @@ MONDO:0010311 "MedDRA:10059117" MONDO:0010311 "MESH:C570377" MONDO:0010311 "UMLS:C3490459" MONDO:0010311 "DOID:9883" +MONDO:0010311 "ICD10CM:G71.0" MONDO:0010311 "Orphanet:98895" MONDO:0010311 "UMLS:C0699741" MONDO:0010311 "SCTID:387732009" MONDO:0010311 "OMIM:159050" -MONDO:0010311 "ICD10:G71.0" MONDO:0010311 "GARD:0005900" MONDO:0010311 "NCIT:C84587" MONDO:0044884 "NCIT:C5918" @@ -30955,8 +30233,7 @@ MONDO:0019497 "GARD:0006410" MONDO:0019497 "MESH:C580334" MONDO:0019497 "UMLS:CN043648" MONDO:0019497 "Orphanet:87884" -MONDO:0019497 "ICD10:H90.5" -MONDO:0008587 "ICD10:J98.0" +MONDO:0008587 "ICD10CM:J98.0" MONDO:0008587 "SCTID:54675009" MONDO:0008587 "GARD:0005235" MONDO:0008587 "Orphanet:3348" @@ -30968,7 +30245,6 @@ MONDO:0011032 "DOID:0110543" MONDO:0011032 "OMIM:601317" MONDO:0011032 "MESH:C563353" MONDO:0011032 "Orphanet:90635" -MONDO:0011032 "ICD10:H90.3" MONDO:0011032 "UMLS:C1832475" MONDO:0006367 "NCIT:C5818" MONDO:0006367 "UMLS:C1335399" @@ -30978,10 +30254,8 @@ MONDO:0005280 "MESH:D011472" MONDO:0005280 "EFO:0003830" MONDO:0005280 "NCIT:C26866" MONDO:0005280 "SCTID:9713002" -MONDO:0005280 "ICD10:N41" MONDO:0005280 "UMLS:C0033581" MONDO:0005280 "ICD9:601" -MONDO:0005280 "ICD10:N41.9" MONDO:0005280 "HP:0000024" MONDO:0005280 "DOID:14654" MONDO:0005280 "ICD9:601.8" @@ -30994,14 +30268,13 @@ MONDO:0008797 "MedDRA:10002583" MONDO:0008797 "GARD:0005818" MONDO:0008797 "SCTID:16958000" MONDO:0008797 "ICD9:520.0" -MONDO:0008797 "ICD10:K00.0" +MONDO:0008797 "ICD10CM:K00.0" MONDO:0004863 "UMLS:C0259800" +MONDO:0004863 "ICD10CM:H44.0" MONDO:0004863 "SCTID:41720003" -MONDO:0004863 "ICD10:H44.00" MONDO:0004863 "DOID:9724" MONDO:0004863 "ICD9:360.00" MONDO:0004863 "ICD9:360.0" -MONDO:0004863 "ICD10:H44.0" MONDO:0002162 "UMLS:C1517121" MONDO:0002162 "DOID:1973" MONDO:0002162 "NCIT:C40125" @@ -31017,19 +30290,19 @@ NCBITaxon:1776223 "GC_ID:1" MONDO:0020716 "OMIM:274400" MONDO:0017757 "Orphanet:309824" MONDO:0017757 "UMLS:CN227202" +MONDO:0010532 "ICD10CM:G12.1" MONDO:0010532 "SCTID:719836007" MONDO:0010532 "Orphanet:1145" MONDO:0010532 "GARD:0008521" MONDO:0010532 "UMLS:C1844934" MONDO:0010532 "OMIM:301830" MONDO:0010532 "MESH:C535380" -MONDO:0010532 "ICD10:G12.1" -MONDO:0012297 "ICD10:G11.4" MONDO:0012297 "UMLS:C1836010" MONDO:0012297 "DOID:0060491" MONDO:0012297 "OMIM:609541" MONDO:0012297 "MESH:C563702" MONDO:0012297 "Orphanet:320406" +MONDO:0012297 "ICD10CM:G11.4" MONDO:0012473 "MESH:C535681" MONDO:0012473 "UMLS:C1835910" MONDO:0012473 "GARD:0010146" @@ -31042,15 +30315,16 @@ MONDO:0001926 "UMLS:C0403608" MONDO:0001926 "UMLS:C0041954" MONDO:0001926 "DOID:1426" MONDO:0001926 "MESH:D014515" +MONDO:0001926 "ICD10CM:N25-N29" MONDO:0001926 "NCIT:C27148" MONDO:0001926 "SCTID:128073008" +NCBITaxon:45219 "GC_ID:1" MONDO:0008984 "GARD:0001360" MONDO:0008984 "OMIM:215518" MONDO:0008984 "ICD9:759.89" MONDO:0008984 "UMLS:C0340038" MONDO:0008984 "SCTID:233667003" MONDO:0008984 "MESH:C562757" -NCBITaxon:45219 "GC_ID:1" HP:0005120 "UMLS:C4025246" MONDO:0010838 "NCIT:C27228" MONDO:0010838 "OMIM:600171" @@ -31072,14 +30346,14 @@ MONDO:0008179 "GARD:0012854" HP:0006561 "UMLS:C1837257" MONDO:0011528 "OMIM:605258" MONDO:0011528 "GARD:0010578" -MONDO:0011528 "ICD10:D80.5" +MONDO:0011528 "ICD10CM:D80.5" MONDO:0011528 "Orphanet:183666" MONDO:0011528 "DOID:0060758" MONDO:0011528 "Orphanet:101089" MONDO:0011528 "SCTID:403836001" MONDO:0011528 "NCIT:C129074" -MONDO:0018244 "ICD10:E66.8" MONDO:0018244 "Orphanet:369873" +MONDO:0018244 "ICD10CM:E66.8" MONDO:0015858 "UMLS:CN200460" MONDO:0015858 "Orphanet:180202" MONDO:0003540 "CSP:2004-1600" @@ -31087,10 +30361,9 @@ MONDO:0003540 "UMLS:C0023493" MONDO:0003540 "SCTID:110007008" MONDO:0003540 "SCTID:277575008" MONDO:0003540 "NCIT:C3184" -MONDO:0003540 "ICD10:C91.50" -MONDO:0003540 "ICD10:C91.5" MONDO:0003540 "DOID:5603" MONDO:0003540 "CSP:2004-1803" +MONDO:0020591 "ICD10CM:K65-K68" MONDO:0020591 "UMLS:C0031142" MONDO:0020591 "MESH:D010532" MONDO:0020591 "SCTID:66579008" @@ -31103,9 +30376,9 @@ MONDO:0030922 "UMLS:CN787270" MONDO:0030922 "Orphanet:178469" MONDO:0030922 "DOID:0080226" MONDO:0016609 "SCTID:766706007" -MONDO:0016609 "ICD10:G72.4" MONDO:0016609 "Orphanet:247718" MONDO:0016609 "UMLS:CN201809" +MONDO:0016609 "ICD10CM:G72.4" NCBITaxon:213115 "PMID:16403855" NCBITaxon:213115 "GC_ID:11" FOODON:03400229 "http://www.langual.org/langual_thesaurus.asp?termid=A0229" @@ -31117,23 +30390,22 @@ MONDO:0100129 "OMIM:207790" MONDO:0021679 "ICD9:041.89" MONDO:0021679 "MESH:D016908" MONDO:0021679 "SCTID:371582002" -MONDO:0016286 "ICD10:C53.1" -MONDO:0016286 "ICD10:C53.0" +MONDO:0016286 "ICD10CM:C53.0" +MONDO:0016286 "ICD10CM:C53.8" MONDO:0016286 "Orphanet:213823" -MONDO:0016286 "ICD10:C53.8" +MONDO:0016286 "ICD10CM:C53.1" MONDO:0010769 "MESH:C564029" MONDO:0010769 "UMLS:C1839070" MONDO:0010769 "OMIM:425500" +MONDO:0007490 "ICD10CM:D16.9" MONDO:0007490 "MESH:C565076" MONDO:0007490 "SCTID:389272007" MONDO:0007490 "Orphanet:2767" -MONDO:0007490 "ICD10:D16.9" MONDO:0007490 "OMIM:127820" MONDO:0007490 "GARD:0001128" MONDO:0007490 "UMLS:C1300233" MONDO:0012969 "OMIM:612633" MONDO:0018315 "Orphanet:391330" -MONDO:0018315 "ICD10:M80.5" MONDO:0021456 "SCTID:92410006" MONDO:0021456 "UMLS:C0347312" MONDO:0021456 "NCIT:C8416" @@ -31148,7 +30420,7 @@ MONDO:0010710 "MESH:C535926" MONDO:0010710 "UMLS:C2931064" MONDO:0010710 "Orphanet:2888" MONDO:0010710 "SCTID:723461007" -MONDO:0010710 "ICD10:Q87.8" +MONDO:0010710 "ICD10CM:Q87.8" MONDO:0021516 "UMLS:C0347234" MONDO:0021516 "NCIT:C4605" MONDO:0021516 "SCTID:92123007" @@ -31156,33 +30428,32 @@ MONDO:0001868 "UMLS:C0017606" MONDO:0001868 "ICD9:365.20" MONDO:0001868 "DOID:1405" MONDO:0001868 "ICD9:365.2" -MONDO:0001868 "ICD10:H40.20" MONDO:0001868 "NCIT:C34640" MONDO:0001868 "EFO:1001506" MONDO:0001868 "UMLS:C0017605" MONDO:0001868 "SCTID:392288006" -MONDO:0001868 "ICD10:H40.2" +MONDO:0001868 "ICD10CM:H40.2" +MONDO:0016473 "ICD10CM:C49.9" MONDO:0016473 "UMLS:CN201468" -MONDO:0016473 "ICD10:C49.9" MONDO:0016473 "NCIT:C93268" MONDO:0016473 "UMLS:C2985524" MONDO:0016473 "Orphanet:231108" MONDO:0016473 "OMIM:609322" MONDO:0016473 "OMIMPS:609322" MONDO:0016473 "OMIM:613325" -NCBITaxon:12637 "GC_ID:1" -MONDO:0008437 "NCIT:C142893" MONDO:0008437 "UMLS:C2931355" MONDO:0008437 "DOID:0110791" MONDO:0008437 "MESH:C536864" -MONDO:0008437 "GARD:0005041" MONDO:0008437 "Orphanet:100984" -MONDO:0008437 "ICD10:G11.4" +MONDO:0008437 "ICD10CM:G11.4" +MONDO:0008437 "NCIT:C142893" +MONDO:0008437 "GARD:0005041" MONDO:0008437 "OMIM:182600" +NCBITaxon:12637 "GC_ID:1" MONDO:0009511 "MESH:C537874" -MONDO:0009511 "ICD10:Q74.8" MONDO:0009511 "Orphanet:284139" MONDO:0009511 "OMIM:245600" +MONDO:0009511 "ICD10CM:Q74.8" MONDO:0009511 "DOID:0080575" MONDO:0014678 "Orphanet:178469" MONDO:0014678 "UMLS:C4225296" @@ -31193,7 +30464,6 @@ MONDO:0018502 "Orphanet:423776" MONDO:0013463 "DOID:0060772" MONDO:0013463 "UMLS:C3151221" MONDO:0013463 "Orphanet:860" -MONDO:0013463 "ICD10:Q20.3" MONDO:0013463 "OMIM:613854" MONDO:0005130 "OMIM:609754" MONDO:0005130 "OMIM:609755" @@ -31205,12 +30475,12 @@ MONDO:0005130 "SCTID:396331005" MONDO:0005130 "OMIM:612009" MONDO:0005130 "OMIM:612006" MONDO:0005130 "OMIM:609753" +MONDO:0005130 "ICD10CM:K90.0" MONDO:0005130 "OMIM:612007" MONDO:0005130 "GARD:0011998" MONDO:0005130 "NCIT:C26714" MONDO:0005130 "Orphanet:555" MONDO:0005130 "OMIMPS:212750" -MONDO:0005130 "ICD10:K90.0" MONDO:0005130 "OMIM:612011" MONDO:0005130 "OMIM:612008" MONDO:0005130 "EFO:0001060" @@ -31230,7 +30500,7 @@ MONDO:0019662 "SCTID:72922008" MONDO:0019662 "GARD:0004833" MONDO:0019662 "OMIM:263520" MONDO:0019662 "ICD9:756.3" -MONDO:0019662 "ICD10:Q77.2" +MONDO:0019662 "ICD10CM:Q77.2" MONDO:0019662 "Orphanet:93269" MONDO:0054764 "OMIM:617917" MONDO:0054764 "UMLS:CN895591" @@ -31244,25 +30514,25 @@ MONDO:0009041 "UMLS:C1857472" MONDO:0012108 "SCTID:719166003" MONDO:0012108 "Orphanet:156728" MONDO:0012108 "GARD:0010611" -MONDO:0012108 "ICD10:Q77.7" +MONDO:0012108 "ICD10CM:Q77.7" MONDO:0012108 "UMLS:C1837481" MONDO:0012108 "OMIM:608728" MONDO:0012108 "MESH:C563869" MONDO:0014865 "Orphanet:420702" +MONDO:0014865 "ICD10CM:D70" MONDO:0014865 "UMLS:C4310764" -MONDO:0014865 "ICD10:D70" MONDO:0014865 "OMIM:617014" MONDO:0006532 "EFO:1000677" MONDO:0006532 "SCTID:35247001" MONDO:0006532 "DOID:9462" -MONDO:0006532 "ICD10:H60.4" -MONDO:0006532 "ICD10:H60.40" +MONDO:0006532 "ICD10CM:H60.4" MONDO:0006532 "ICD9:380.21" MONDO:0006532 "UMLS:C0155398" MONDO:0008658 "OMIM:193070" MONDO:0054601 "UMLS:C4539685" MONDO:0054601 "OMIM:617540" MONDO:0009169 "Orphanet:2022" +MONDO:0009169 "ICD10CM:I42.4" MONDO:0009169 "SCTID:65457005" MONDO:0009169 "EFO:0007251" MONDO:0009169 "ICD9:425.3" @@ -31272,7 +30542,6 @@ MONDO:0009169 "UMLS:C0014117" MONDO:0009169 "MedDRA:10014663" MONDO:0009169 "NCIT:C98922" MONDO:0009169 "GARD:0006336" -MONDO:0009169 "ICD10:I42.4" MONDO:0009169 "OMIM:226000" MONDO:0024627 "UMLS:C0398732" MONDO:0024627 "SCTID:302874002" @@ -31280,9 +30549,9 @@ MONDO:0012518 "DOID:0110660" MONDO:0012518 "OMIM:610542" MONDO:0012518 "Orphanet:590" MONDO:0012518 "Orphanet:353327" +MONDO:0017922 "ICD10CM:Q87.8" MONDO:0017922 "Orphanet:3231" MONDO:0017922 "UMLS:CN204041" -MONDO:0017922 "ICD10:Q87.8" MONDO:0017922 "OMIM:220500" MONDO:0017922 "OMIM:124480" MONDO:0011696 "Orphanet:39044" @@ -31292,9 +30561,7 @@ MONDO:0011349 "OMIM:603600" MONDO:0011349 "MESH:C566356" MONDO:0013549 "UMLS:C3279716" MONDO:0013549 "OMIM:614063" -MONDO:0007606 "ICD10:M61.1" MONDO:0007606 "OMIM:135100" -MONDO:0007606 "ICD10:M61.10" MONDO:0007606 "DOID:13374" MONDO:0007606 "NCIT:C3040" MONDO:0007606 "ICD9:728.11" @@ -31307,6 +30574,7 @@ MONDO:0007973 "OMIM:156190" MONDO:0007973 "UMLS:C1835028" MONDO:0007973 "MESH:C563591" MONDO:0015578 "Orphanet:163591" +MONDO:0004668 "ICD10CM:B66.3" MONDO:0004668 "UMLS:C1331532" MONDO:0004668 "SCTID:82308007" MONDO:0004668 "GARD:0006428" @@ -31315,42 +30583,41 @@ MONDO:0004668 "ICD9:121.3" MONDO:0004668 "DOID:885" MONDO:0004668 "NCIT:C128387" MONDO:0004668 "EFO:1001324" -MONDO:0004668 "ICD10:B66.3" MONDO:0004668 "MESH:D005211" -MONDO:0016520 "OMIM:118100" -MONDO:0016520 "ICD10:Q76.1" -MONDO:0016520 "Orphanet:2345" -MONDO:0016520 "OMIM:613702" -MONDO:0016520 "OMIM:214300" MONDO:0037255 "NCIT:C8431" MONDO:0037255 "UMLS:C0476122" MONDO:0020183 "UMLS:CN207043" MONDO:0020183 "Orphanet:98593" +MONDO:0016520 "OMIM:118100" +MONDO:0016520 "Orphanet:2345" +MONDO:0016520 "ICD10CM:Q76.1" +MONDO:0016520 "OMIM:613702" +MONDO:0016520 "OMIM:214300" MONDO:0002448 "NCIT:C6020" MONDO:0002448 "DOID:2877" MONDO:0002448 "UMLS:C1334377" MONDO:0013959 "GARD:0012441" -MONDO:0013959 "ICD10:G60.0" MONDO:0013959 "Orphanet:99952" MONDO:0013959 "OMIM:614895" +MONDO:0013959 "ICD10CM:G60.0" MONDO:0013959 "DOID:0110193" MONDO:0013959 "SCTID:715801001" MONDO:0013959 "UMLS:C3540453" MONDO:0010294 "UMLS:C1845987" -MONDO:0010294 "GARD:0003981" +MONDO:0010294 "ICD10CM:D70" MONDO:0010294 "MESH:C564539" +MONDO:0010294 "GARD:0003981" MONDO:0010294 "SCTID:718882006" MONDO:0010294 "OMIM:300299" MONDO:0010294 "Orphanet:86788" -MONDO:0010294 "ICD10:D70" MONDO:0001361 "MESH:D009759" MONDO:0001361 "SCTID:45339001" +MONDO:0001361 "ICD10CM:H55.03" MONDO:0001361 "UMLS:C0271384" MONDO:0001361 "DOID:11771" -MONDO:0001361 "ICD10:H55.03" MONDO:0001361 "ICD9:379.53" -MONDO:0014153 "DOID:0111024" MONDO:0014153 "UMLS:C3809299" +MONDO:0014153 "DOID:0111024" MONDO:0014153 "OMIM:615374" MONDO:0014153 "Orphanet:1872" MONDO:0006847 "EFO:1001032" @@ -31369,13 +30636,12 @@ HP:0000077 "SNOMEDCT_US:44513007" HP:0000077 "MSH:D007674" HP:0000077 "SNOMEDCT_US:90708001" NCBITaxon:10368 "GC_ID:1" -MONDO:0016136 "ICD10:G60.2" MONDO:0016136 "Orphanet:207028" MONDO:0001689 "UMLS:C0392494" MONDO:0001689 "ICD9:529.3" MONDO:0001689 "SCTID:6971002" MONDO:0001689 "DOID:13333" -MONDO:0001689 "ICD10:K14.3" +MONDO:0001689 "ICD10CM:K14.3" MONDO:0003889 "UMLS:C1512737" MONDO:0003889 "NCIT:C39827" MONDO:0003889 "DOID:6476" @@ -31384,7 +30650,7 @@ MONDO:0020370 "GARD:0006125" MONDO:0020370 "NCIT:C84644" MONDO:0020370 "SCTID:404633004" MONDO:0020370 "DOID:0060217" -MONDO:0020370 "ICD10:H21.2" +MONDO:0020370 "ICD10CM:H21.2" MONDO:0020370 "Orphanet:98980" MONDO:0020370 "MedDRA:10059200" MONDO:0004889 "DOID:9820" @@ -31395,8 +30661,8 @@ MONDO:0013394 "UMLS:C3151000" MONDO:0013394 "Orphanet:306547" MONDO:0013394 "OMIM:613730" MONDO:0011778 "SCTID:719688002" -MONDO:0011778 "ICD10:Q77.3" MONDO:0011778 "OMIM:607131" +MONDO:0011778 "ICD10CM:Q77.3" MONDO:0011778 "MESH:C564621" MONDO:0011778 "Orphanet:166024" HP:0001433 "SNOMEDCT_US:36760000" @@ -31407,7 +30673,7 @@ MONDO:0014340 "Orphanet:334" MONDO:0003401 "NCIT:C6209" MONDO:0003401 "DOID:5343" MONDO:0003401 "NCIT:C7011" -MONDO:0016065 "ICD10:Q87.0" +MONDO:0016065 "ICD10CM:Q87.0" MONDO:0016065 "UMLS:CN200784" MONDO:0016065 "GARD:0001392" MONDO:0016065 "Orphanet:2015" @@ -31419,21 +30685,21 @@ MONDO:0010712 "Orphanet:90695" MONDO:0010712 "OMIM:312000" MONDO:0010712 "DOID:0111779" MONDO:0026404 "OMIM:300087" +MONDO:0019441 "ICD10EXP:E85.4+" MONDO:0019441 "OMIM:105210" -MONDO:0019441 "ICD10:E85.4+" -MONDO:0019441 "ICD10:I43.1*" +MONDO:0019441 "ICD10EXP:I43.1*" MONDO:0019441 "Orphanet:85451" MONDO:0019441 "SCTID:715655000" MONDO:0015377 "Orphanet:141030" -MONDO:0015377 "ICD10:Q18.0" MONDO:0015377 "SCTID:73391000119102" +MONDO:0015377 "ICD10CM:Q18.0" MONDO:0012499 "OMIM:610446" MONDO:0012499 "GARD:0009520" MONDO:0014468 "OMIM:616040" MONDO:0014468 "DOID:0110659" MONDO:0014468 "UMLS:C4015038" -MONDO:0016323 "ICD10:J84.8" MONDO:0016323 "Orphanet:217566" +MONDO:0016323 "ICD10CM:J84.8" MONDO:0016323 "OMIM:610913" MONDO:0024491 "UMLS:C0475269" MONDO:0024491 "NCIT:C28077" @@ -31441,11 +30707,11 @@ MONDO:0024491 "LOINC:LA9629-2" MONDO:0042484 "SCTID:91051003" MONDO:0042484 "UMLS:C0276725" MONDO:0100223 "OMIMPS:252010" -MONDO:0007522 "ICD10:Q79.6" MONDO:0007522 "Orphanet:287" MONDO:0007522 "UMLS:C0268335" MONDO:0007522 "UMLS:C0220679" MONDO:0007522 "Orphanet:90309" +MONDO:0007522 "ICD10CM:Q79.6" MONDO:0007522 "SCTID:715318006" MONDO:0007522 "UMLS:C4225429" MONDO:0007522 "GARD:0002088" @@ -31467,8 +30733,8 @@ MONDO:0004353 "UMLS:C1333511" MONDO:0004353 "NCIT:C7124" MONDO:0032569 "OMIM:618160" MONDO:0009839 "OMIM:260540" -MONDO:0009839 "ICD10:G23.1" MONDO:0009839 "Orphanet:99750" +MONDO:0009839 "ICD10CM:G23.1" MONDO:0009839 "Orphanet:240085" MONDO:0009839 "Orphanet:683" MONDO:0009839 "GARD:0004507" @@ -31477,18 +30743,18 @@ MONDO:0009839 "MESH:C537240" MONDO:0007405 "Orphanet:207" MONDO:0007405 "GARD:0006206" MONDO:0007405 "OMIM:123500" -MONDO:0007405 "ICD10:Q75.1" +MONDO:0007405 "ICD10CM:Q75.1" MONDO:0007405 "MESH:D003394" MONDO:0007405 "UMLS:CN200892" MONDO:0007405 "NCIT:C84653" MONDO:0007405 "DOID:2339" MONDO:0007405 "SCTID:28861008" -MONDO:0009019 "GARD:0006196" -MONDO:0009019 "ICD10:H18.5" -MONDO:0009019 "Orphanet:293603" MONDO:0009019 "OMIM:217700" MONDO:0009019 "MESH:C536439" +MONDO:0009019 "GARD:0006196" MONDO:0009019 "DOID:0060649" +MONDO:0009019 "ICD10CM:H18.5" +MONDO:0009019 "Orphanet:293603" MONDO:0021279 "UMLS:C1336524" MONDO:0021279 "NCIT:C5939" MONDO:0021279 "SCTID:423424005" @@ -31497,24 +30763,22 @@ MONDO:0011284 "DOID:11782" MONDO:0011284 "OMIM:603047" MONDO:0011284 "SCTID:82649003" MONDO:0011284 "MESH:D001251" -MONDO:0011284 "ICD10:H52.2" -MONDO:0011284 "ICD10:H52.20" MONDO:0011284 "UMLS:C0004106" MONDO:0011284 "ICD9:367.20" MONDO:0011284 "CSP:1116-1831" MONDO:0011284 "ICD9:367.2" -MONDO:0001164 "ICD10:F60.2" MONDO:0001164 "SCTID:26665006" MONDO:0001164 "ICD9:301.7" MONDO:0001164 "MESH:D000987" MONDO:0001164 "NCIT:C88413" +MONDO:0001164 "ICD10CM:F60.2" MONDO:0001164 "DOID:10939" MONDO:0010116 "UMLS:C1848863" MONDO:0010116 "OMIM:273740" MONDO:0010116 "Orphanet:1803" -MONDO:0010116 "ICD10:Q77.2" MONDO:0010116 "MESH:C564773" MONDO:0010116 "GARD:0010612" +MONDO:0010116 "ICD10CM:Q77.2" HP:0001025 "SNOMEDCT_US:126485001" HP:0001025 "MSH:D014581" HP:0001025 "MEDDRA:10046735" @@ -31526,13 +30790,14 @@ MONDO:0044299 "Orphanet:590" MONDO:0044299 "UMLS:C4479088" MONDO:0044299 "OMIM:616224" MONDO:0044299 "DOID:0080587" +MONDO:0019264 "ICD10CM:E77.1" MONDO:0019264 "OMIM:609241" MONDO:0019264 "UMLS:C1836545" -MONDO:0019264 "ICD10:E77.1" MONDO:0019264 "Orphanet:79281" MONDO:0005794 "MESH:D006566" MONDO:0005794 "EFO:0007309" MONDO:0005794 "SCTID:23513009" +MONDO:0005794 "ICD10CM:B10-B10" MONDO:0004540 "UMLS:C1321427" MONDO:0004540 "DOID:8353" MONDO:0004540 "SCTID:404038007" @@ -31545,10 +30810,10 @@ MONDO:0001001 "ICD9:503" MONDO:0001001 "SCTID:50076003" MONDO:0001001 "DOID:10321" MONDO:0001001 "MESH:C537080" +MONDO:0017701 "ICD10CM:E74.0" MONDO:0017701 "Orphanet:308712" MONDO:0017701 "UMLS:CN203601" MONDO:0017701 "OMIM:232500" -MONDO:0017701 "ICD10:E74.0" MONDO:0004518 "NCIT:C7641" MONDO:0004518 "UMLS:C0279930" MONDO:0004518 "DOID:8272" @@ -31573,45 +30838,44 @@ MONDO:0001211 "UMLS:C0152197" MONDO:0001211 "DOID:11177" MONDO:0010339 "Orphanet:85294" MONDO:0010339 "MESH:C564505" -MONDO:0010339 "ICD10:Q87.8" +MONDO:0010339 "ICD10CM:Q87.8" MONDO:0010339 "UMLS:C1845343" MONDO:0010339 "OMIM:300491" MONDO:0017055 "SCTID:723406000" +MONDO:0017055 "ICD10CM:Q86.8" MONDO:0017055 "UMLS:C4509879" -MONDO:0017055 "ICD10:Q86.8" MONDO:0017055 "Orphanet:268249" MONDO:0004176 "UMLS:C1332968" MONDO:0004176 "NCIT:C27376" MONDO:0004176 "DOID:7297" MONDO:0015743 "SCTID:737580004" MONDO:0015743 "UMLS:C4545229" -MONDO:0015743 "ICD10:H81.8" MONDO:0015743 "Orphanet:171684" +MONDO:0015743 "ICD10CM:H81.8" MONDO:0007399 "OMIM:123100" MONDO:0007399 "SCTID:57219006" MONDO:0007399 "Orphanet:35099" MONDO:0007399 "UMLS:C0010278" MONDO:0007399 "UMLS:CN029978" -MONDO:0007399 "Orphanet:35093" MONDO:0007399 "Orphanet:63440" -MONDO:0013738 "ICD10:H90.3" +MONDO:0007399 "Orphanet:35093" MONDO:0013738 "OMIM:614414" MONDO:0013738 "DOID:0110538" MONDO:0005122 "Wikipedia:Pectobacterium_carotovorum" MONDO:0005122 "EFO:0000781" MONDO:0022782 "GARD:0001386" MONDO:0002613 "ICD9:301.5" +MONDO:0002613 "ICD10CM:F60.4" MONDO:0002613 "MESH:D006677" MONDO:0002613 "ICD9:301.59" MONDO:0002613 "SCTID:55341008" MONDO:0002613 "NCIT:C92634" MONDO:0002613 "ICD9:301.50" MONDO:0002613 "HP:0012077" -MONDO:0002613 "ICD10:F60.4" MONDO:0002613 "DOID:334" MONDO:0012161 "SCTID:766983005" +MONDO:0012161 "ICD10CM:D84.8" MONDO:0012161 "OMIM:608957" -MONDO:0012161 "ICD10:D84.8" MONDO:0012161 "MESH:C563824" MONDO:0012161 "Orphanet:169085" MONDO:0012161 "UMLS:C1837065" @@ -31619,23 +30883,23 @@ MONDO:0022611 "MESH:C537408" MONDO:0022611 "UMLS:C2931486" MONDO:0007125 "ICD9:750.0" MONDO:0007125 "SCTID:67787004" +MONDO:0007125 "ICD10CM:Q38.1" MONDO:0007125 "MESH:C562396" MONDO:0007125 "NCIT:C124538" MONDO:0007125 "OMIM:106280" MONDO:0007125 "DOID:0060604" -MONDO:0007125 "ICD10:Q38.1" MONDO:0021905 "GARD:0000746" MONDO:0007301 "MESH:C562538" -MONDO:0007301 "ICD10:Q87.8" MONDO:0007301 "GARD:0006026" MONDO:0007301 "OMIM:117650" +MONDO:0007301 "ICD10CM:Q87.8" MONDO:0007301 "SCTID:51780007" MONDO:0007301 "UMLS:C0265342" MONDO:0007301 "Orphanet:1393" MONDO:0007301 "ICD9:759.89" MONDO:0007301 "DOID:0111248" MONDO:0019693 "Orphanet:93430" -MONDO:0019693 "ICD10:Q78.5" +MONDO:0019693 "ICD10CM:Q78.5" MONDO:0013901 "Orphanet:276234" MONDO:0013901 "DOID:0070178" MONDO:0013901 "OMIM:614822" @@ -31655,6 +30919,7 @@ MONDO:0006563 "ICD9:264.8" MONDO:0056798 "ICD9:543.9" MONDO:0056798 "SCTID:18526009" MONDO:0056798 "UMLS:C0267613" +MONDO:0056798 "ICD10CM:K35-K38" MONDO:0056798 "DOID:60000" MONDO:0030031 "OMIM:618873" MONDO:0009763 "ICD9:786.09" @@ -31663,11 +30928,11 @@ MONDO:0009763 "OMIM:257500" MONDO:0009763 "UMLS:C0031880" MONDO:0009763 "SCTID:190966007" MONDO:0008993 "Orphanet:2010" +MONDO:0008993 "ICD10CM:Q87.8" MONDO:0008993 "UMLS:C1859081" MONDO:0008993 "GARD:0001393" MONDO:0008993 "MESH:C565844" MONDO:0008993 "OMIM:216300" -MONDO:0008993 "ICD10:Q87.8" MONDO:0014318 "OMIM:615716" MONDO:0014318 "UMLS:C3810354" MONDO:0014318 "Orphanet:247262" @@ -31678,19 +30943,11 @@ MONDO:0000727 "UMLS:C2931268" MONDO:0000727 "OMIM:300695" MONDO:0000727 "OMIM:181430" MONDO:0018504 "NCIT:C5476" -MONDO:0018504 "ICD10:C16.0" -MONDO:0018504 "ICD10:C16.2" -MONDO:0018504 "ICD10:C16.8" MONDO:0018504 "ONCOTREE:USTAD" MONDO:0018504 "SCTID:766757006" -MONDO:0018504 "ICD10:C16.4" -MONDO:0018504 "ICD10:C16.6" MONDO:0018504 "UMLS:C1336858" -MONDO:0018504 "ICD10:C16.1" MONDO:0018504 "UMLS:CN237509" -MONDO:0018504 "ICD10:C16.3" MONDO:0018504 "Orphanet:423786" -MONDO:0018504 "ICD10:C16.5" MONDO:0012278 "Orphanet:683" MONDO:0012278 "MESH:C563717" MONDO:0012278 "UMLS:C1836148" @@ -31705,24 +30962,23 @@ HP:0002015 "MSH:D003680" HP:0002015 "UMLS:C0011168" HP:0002015 "MEDDRA:10013950" HP:0002015 "SNOMEDCT_US:288939007" -MONDO:0013610 "ICD10:H35.5" MONDO:0013610 "UMLS:C3280041" MONDO:0013610 "DOID:0110373" MONDO:0013610 "OMIM:614180" MONDO:0006784 "SCTID:12546009" -MONDO:0006784 "ICD10:P53" MONDO:0006784 "MESH:D006475" MONDO:0006784 "NCIT:C111857" MONDO:0006784 "ICD9:776.0" MONDO:0006784 "EFO:1000964" +MONDO:0006784 "ICD10CM:P53" MONDO:0006784 "MedDRA:10019601" MONDO:0023551 "UMLS:C0403434" MONDO:0023551 "GARD:0012136" MONDO:0023551 "SCTID:236412002" MONDO:0007295 "SCTID:44145005" +MONDO:0007295 "ICD10CM:G40.0" MONDO:0007295 "DOID:3329" MONDO:0007295 "UMLS:C2363129" -MONDO:0007295 "ICD10:G40.0" MONDO:0007295 "UMLS:C0376532" MONDO:0007295 "ICD9:345.80" MONDO:0007295 "OMIM:245570" @@ -31731,7 +30987,6 @@ MONDO:0007295 "Orphanet:1945" MONDO:0007295 "UMLS:CN200685" MONDO:0007295 "GARD:0010287" MONDO:0007295 "OMIM:117100" -MONDO:0005983 "ICD10:B35" MONDO:0005983 "UMLS:C0040254" MONDO:0005983 "SCTID:85375000" MONDO:0005983 "NCIT:C35072" @@ -31744,7 +30999,6 @@ MONDO:0013231 "GARD:0010883" MONDO:0013231 "Orphanet:65" MONDO:0013231 "MESH:C567636" MONDO:0013231 "UMLS:C2750063" -MONDO:0013231 "ICD10:H35.5" MONDO:0013231 "DOID:0110188" CL:1000330 "FMA:263078" MONDO:0012851 "MESH:C567362" @@ -31764,8 +31018,8 @@ MONDO:0018088 "OMIM:249100" MONDO:0018088 "UMLS:C0031069" MONDO:0018088 "MedDRA:10016207" MONDO:0018088 "ICD9:277.31" +MONDO:0018088 "ICD10CM:E85.0" MONDO:0018088 "Orphanet:342" -MONDO:0018088 "ICD10:E85.0" MONDO:0018088 "OMIM:134610" MONDO:0018088 "NCIT:C84707" MONDO:0018088 "GARD:0006421" @@ -31773,25 +31027,23 @@ MONDO:0010118 "OMIM:273770" MONDO:0015522 "GARD:0010875" MONDO:0015522 "Orphanet:157769" MONDO:0015522 "SCTID:14821001" -MONDO:0015522 "ICD10:Q89.3" +MONDO:0015522 "ICD10CM:Q89.3" MONDO:0015522 "MedDRA:10059119" -MONDO:0018307 "ICD10:G23.0" MONDO:0018307 "GARD:0011899" MONDO:0018307 "Orphanet:385" +MONDO:0018307 "ICD10CM:G23.0" MONDO:0018307 "OMIMPS:234200" MONDO:0018307 "DOID:0110734" MONDO:0018307 "MESH:C538421" MONDO:0004800 "UMLS:C0155224" MONDO:0004800 "SCTID:4760008" MONDO:0004800 "ICD9:375.02" -MONDO:0004800 "ICD10:H04.02" MONDO:0004800 "DOID:949" MONDO:0020572 "UMLS:C0007462" MONDO:0020572 "MedDRA:10007825" MONDO:0020572 "NCIT:C121572" MONDO:0020572 "MedDRA:10064335" MONDO:0020572 "SCTID:408751001" -MONDO:0020572 "ICD10:G56.4" MONDO:0020572 "Orphanet:99994" MONDO:0020572 "DOID:3222" MONDO:0020572 "EFO:1000854" @@ -31809,9 +31061,9 @@ MONDO:0019125 "EFO:1001148" MONDO:0019125 "ICD9:733.99" MONDO:0019125 "SCTID:72275000" MONDO:0019125 "UMLS:C0032453" -MONDO:0019125 "ICD10:M94.1" MONDO:0019125 "NCIT:C157268" MONDO:0019125 "GARD:0007417" +MONDO:0019125 "ICD10CM:M94.1" MONDO:0044704 "NCIT:C8181" MONDO:0044704 "Orphanet:500478" MONDO:0044704 "ONCOTREE:OPHSC" @@ -31825,17 +31077,15 @@ MONDO:0011559 "DOID:0070232" MONDO:0011559 "Orphanet:99961" MONDO:0011559 "OMIM:605479" MONDO:0011559 "Orphanet:65682" -MONDO:0011559 "ICD10:K83.1" +MONDO:0011559 "ICD10CM:K83.1" MONDO:0006166 "NCIT:C54183" MONDO:0006166 "EFO:1000199" MONDO:0006166 "UMLS:C1707446" -MONDO:0016963 "Orphanet:262932" -MONDO:0016963 "GARD:0001929" MONDO:0016616 "UMLS:CN201824" MONDO:0016616 "Orphanet:247846" -MONDO:0016616 "ICD10:M08.4" +MONDO:0016616 "ICD10CM:M08.4" MONDO:0011969 "GARD:0009834" -MONDO:0011969 "ICD10:E77.8" +MONDO:0011969 "ICD10CM:E77.8" MONDO:0011969 "SCTID:720977000" MONDO:0011969 "OMIM:608104" MONDO:0011969 "DOID:0080560" @@ -31848,29 +31098,28 @@ MONDO:0013034 "UMLS:C1852127" MONDO:0013034 "Orphanet:50942" MONDO:0100288 "MESH:C564835" MONDO:0100288 "OMIM:268100" +MONDO:0100288 "ICD10CM:H35.5" MONDO:0100288 "DOID:0090059" MONDO:0100288 "Orphanet:53540" MONDO:0100288 "UMLS:C1849394" -MONDO:0100288 "ICD10:H35.5" MONDO:0011722 "UMLS:C1847522" MONDO:0011722 "OMIM:606772" -MONDO:0011722 "ICD10:Q87.8" +MONDO:0011722 "ICD10CM:Q87.8" MONDO:0011722 "MESH:C564660" MONDO:0011722 "Orphanet:397973" -MONDO:0017220 "ICD10:Q32.1" +MONDO:0017220 "ICD10CM:Q32.1" MONDO:0017220 "UMLS:CN202702" MONDO:0017220 "Orphanet:280205" MONDO:0004384 "NCIT:C6840" MONDO:0004384 "DOID:7868" MONDO:0004384 "UMLS:C1334645" MONDO:0008101 "OMIM:163700" -MONDO:0008101 "ICD10:Q83.3" MONDO:0008101 "Orphanet:2456" +MONDO:0008101 "ICD10CM:Q83.3" MONDO:0004037 "MESH:D010211" MONDO:0004037 "SCTID:6141006" MONDO:0004037 "ICD9:362.83" MONDO:0004037 "DOID:6929" -MONDO:0004037 "ICD10:H35.81" MONDO:0013903 "UMLS:C3553801" MONDO:0013903 "OMIM:614826" MONDO:0003187 "DOID:4879" @@ -31878,8 +31127,8 @@ MONDO:0003187 "NCIT:C40295" MONDO:0003187 "UMLS:C1511047" MONDO:0022938 "GARD:0001689" MONDO:0001875 "UMLS:C0014488" +MONDO:0001875 "ICD10CM:M77.1" MONDO:0001875 "DOID:14087" -MONDO:0001875 "ICD10:M77.1" MONDO:0001875 "SCTID:202855006" MONDO:0001875 "ICD9:726.32" MONDO:0001875 "MESH:D013716" @@ -31891,21 +31140,20 @@ MONDO:0007778 "MESH:D006972" MONDO:0007778 "OMIM:145400" MONDO:0007778 "SCTID:22006008" MONDO:0007778 "HP:0000316" -MONDO:0002039 "ICD10:F09" MONDO:0002039 "SCTID:443265004" MONDO:0002039 "NCIT:C92196" MONDO:0002039 "DOID:1561" MONDO:0002039 "EFO:1001457" -MONDO:0002039 "MESH:D019965" MONDO:0002039 "ICD9:294.9" +MONDO:0002039 "MESH:D019965" MONDO:0010808 "UMLS:C0206042" +MONDO:0010808 "ICD10CM:A81.83" MONDO:0010808 "SCTID:83157008" -MONDO:0010808 "ICD10:A81.8" MONDO:0010808 "Orphanet:466" MONDO:0010808 "MESH:D034062" MONDO:0010808 "NCIT:C84711" MONDO:0010808 "ICD9:046.72" -MONDO:0010808 "ICD10:A81.83" +MONDO:0010808 "ICD10CM:A81.8" MONDO:0010808 "OMIM:600072" MONDO:0010808 "DOID:0050433" MONDO:0010808 "MedDRA:10072077" @@ -31930,24 +31178,22 @@ MONDO:0008596 "Orphanet:77258" MONDO:0008596 "OMIM:190350" MONDO:0008596 "MESH:C536820" MONDO:0007615 "SCTID:715440003" +MONDO:0007615 "ICD10CM:Q87.2" MONDO:0007615 "OMIM:135750" MONDO:0007615 "Orphanet:2378" -MONDO:0007615 "ICD10:Q87.2" MONDO:0007615 "GARD:0000155" MONDO:0007615 "MESH:C535689" MONDO:0007615 "DOID:0111350" MONDO:0032608 "OMIM:618224" -MONDO:0018661 "ICD10:U06" MONDO:0018661 "UMLS:CN237724" MONDO:0018661 "DOID:0060478" -MONDO:0018661 "ICD10:A92.5" MONDO:0018661 "MESH:D000071243" +MONDO:0018661 "ICD10CM:A92.5" MONDO:0018661 "UMLS:C0276289" MONDO:0018661 "NCIT:C128423" MONDO:0018661 "Orphanet:448237" MONDO:0018661 "SCTID:3928002" MONDO:0018661 "GARD:0012894" -MONDO:0018661 "ICD10:A92.8" MONDO:0009542 "UMLS:C0796023" MONDO:0009542 "MESH:C563080" MONDO:0009542 "OMIM:247950" @@ -31961,20 +31207,20 @@ MONDO:0021372 "UMLS:C1263887" MONDO:0001203 "DOID:11134" MONDO:0001203 "ICD9:375.16" MONDO:0001203 "SCTID:84777002" -MONDO:0001203 "ICD10:H04.16" MONDO:0001203 "UMLS:C0155231" NCBITaxon:8492 "GC_ID:1" MONDO:0025445 "OMIMPS:314580" MONDO:0021201 "NCIT:C35025" MONDO:0021201 "SCTID:19824006" MONDO:0021201 "UMLS:C0037278" +MONDO:0021201 "ICD10CM:L00-L08" MONDO:0017766 "Orphanet:309851" -MONDO:0017766 "ICD10:E83.8" +MONDO:0017766 "ICD10CM:E83.8" MONDO:0017766 "UMLS:CN227208" +MONDO:0016512 "ICD10CM:Q87.0" MONDO:0016512 "GARD:0006810" MONDO:0016512 "DOID:0060473" MONDO:0016512 "MedDRA:10063935" -MONDO:0016512 "ICD10:Q87.0" MONDO:0016512 "OMIMPS:147920" MONDO:0016512 "SCTID:313426007" MONDO:0016512 "UMLS:C0796004" @@ -32010,17 +31256,16 @@ MONDO:0018160 "MESH:D012175" MONDO:0018160 "Orphanet:357027" MONDO:0018160 "NCIT:C8495" MONDO:0018160 "OMIM:180200" -MONDO:0018160 "ICD10:C69.2" +MONDO:0018160 "ICD10CM:C69.2" MONDO:0018160 "DOID:4648" MONDO:0015774 "Orphanet:1759" -MONDO:0015774 "ICD10:Q43.4" MONDO:0015774 "GARD:0005181" MONDO:0015774 "SCTID:733628001" +MONDO:0015774 "ICD10CM:Q43.4" MONDO:0024634 "SCTID:119523007" MONDO:0024634 "UMLS:C0341321" MONDO:0001309 "Orphanet:98685" MONDO:0001309 "DOID:11550" -MONDO:0001309 "ICD10:H49.0" MONDO:0001309 "MESH:D015840" MONDO:0001309 "SCTID:388980004" MONDO:0001309 "UMLS:C0028866" @@ -32035,8 +31280,8 @@ MONDO:0002644 "DOID:3428" MONDO:0002644 "UMLS:C1334150" MONDO:0002644 "NCIT:C27575" MONDO:0002644 "Orphanet:206979" -MONDO:0018370 "ICD10:G71.0" MONDO:0018370 "Orphanet:399081" +MONDO:0018370 "ICD10CM:G71.0" MONDO:0018370 "SCTID:763776004" MONDO:0022642 "NCIT:C118810" MONDO:0022642 "GARD:0009315" @@ -32044,19 +31289,19 @@ MONDO:0022642 "UMLS:C3899673" MONDO:0017953 "UMLS:CN204099" MONDO:0017953 "Orphanet:324924" MONDO:0017953 "MESH:D056660" -MONDO:0017953 "ICD10:E85.0" +MONDO:0017953 "ICD10CM:E85.0" MONDO:0007460 "OMIM:126180" MONDO:0005844 "MESH:D017043" -MONDO:0005844 "NCIT:C26717" MONDO:0005844 "UMLS:C0007933" +MONDO:0005844 "NCIT:C26717" +MONDO:0005844 "ICD10CM:H00.1" MONDO:0005844 "ICD9:373.2" MONDO:0005844 "EFO:0007363" -MONDO:0005844 "ICD10:H00.1" MONDO:0005844 "SCTID:1482004" MONDO:0005844 "DOID:9903" +MONDO:0001424 "ICD10CM:D86.81" MONDO:0001424 "ICD9:321.4" MONDO:0001424 "SCTID:192673008" -MONDO:0001424 "ICD10:D86.81" MONDO:0001424 "UMLS:C0154648" MONDO:0001424 "DOID:12055" HP:0004374 "UMLS:C0375206" @@ -32067,7 +31312,6 @@ MONDO:0054680 "DOID:0070302" MONDO:0054680 "OMIM:617719" MONDO:0003072 "SCTID:363465007" MONDO:0003072 "ICD9:190.5" -MONDO:0003072 "ICD10:C69.2" MONDO:0003072 "DOID:4645" MONDO:0003072 "NCIT:C3216" MONDO:0003072 "EFO:0005716" @@ -32085,10 +31329,10 @@ MONDO:0006589 "EFO:1000744" MONDO:0025376 "MESH:D000355" MONDO:0025376 "UMLS:C0001748" MONDO:0008492 "SCTID:765187004" +MONDO:0008492 "ICD10CM:L98.8" MONDO:0008492 "UMLS:C1861456" MONDO:0008492 "OMIM:184900" MONDO:0008492 "DOID:0111561" -MONDO:0008492 "ICD10:L98.8" MONDO:0008492 "GARD:0005025" MONDO:0008492 "Orphanet:2833" MONDO:0008492 "OMIM:228020" @@ -32105,38 +31349,38 @@ MONDO:0008407 "GARD:0010312" MONDO:0008407 "UMLS:C1867005" MONDO:0008407 "Orphanet:85146" MONDO:0008407 "MESH:C566695" -MONDO:0008407 "ICD10:G12.1" +MONDO:0008407 "ICD10CM:G12.1" MONDO:0009965 "NCIT:C103144" MONDO:0009965 "MESH:C536399" MONDO:0009965 "Orphanet:2849" MONDO:0009965 "SCTID:722231005" MONDO:0009965 "UMLS:C0796113" MONDO:0009965 "OMIM:267000" -MONDO:0009965 "ICD10:Q87.3" MONDO:0009965 "DOID:0060476" +MONDO:0009965 "ICD10CM:Q87.3" MONDO:0009965 "GARD:0003936" MONDO:0014184 "UMLS:C3809483" MONDO:0014184 "OMIM:615432" -MONDO:0010672 "MESH:C537466" -MONDO:0010672 "ICD10:Q11.2" MONDO:0010672 "SCTID:721879006" -MONDO:0010672 "GARD:0003659" -MONDO:0010672 "OMIMPS:309801" MONDO:0010672 "OMIM:300887" -MONDO:0010672 "Orphanet:2556" +MONDO:0010672 "GARD:0003659" +MONDO:0010672 "MESH:C537466" MONDO:0010672 "OMIM:309801" MONDO:0010672 "OMIM:300952" +MONDO:0010672 "Orphanet:2556" +MONDO:0010672 "ICD10CM:Q11.2" +MONDO:0010672 "OMIMPS:309801" MONDO:0002865 "UMLS:C1332277" MONDO:0002865 "NCIT:C5611" MONDO:0002865 "DOID:4067" NCBITaxon:63671 "GC_ID:1" MONDO:0016128 "SCTID:60970005" MONDO:0016128 "ICD9:728.2" +MONDO:0016128 "ICD10CM:M60.0" MONDO:0016128 "UMLS:C0263997" -MONDO:0016128 "ICD10:M60.0" MONDO:0016128 "Orphanet:206997" +MONDO:0015041 "ICD10CM:D46.2" MONDO:0015041 "UMLS:C1318551" -MONDO:0015041 "ICD10:D46.2" MONDO:0015041 "NCIT:C7168" MONDO:0015041 "Orphanet:100020" MONDO:0011089 "GARD:0010483" @@ -32146,19 +31390,18 @@ MONDO:0011089 "OMIM:601466" MONDO:0011089 "MESH:C562830" MONDO:0011724 "OMIM:606777" MONDO:0011724 "GARD:0009265" -MONDO:0011724 "ICD10:G93.4" MONDO:0011724 "UMLS:CN030711" +MONDO:0011724 "ICD10CM:G93.4" MONDO:0011724 "MESH:C536830" MONDO:0011724 "Orphanet:71277" MONDO:0011724 "EFO:0009139" MONDO:0011724 "UMLS:C1847501" +MONDO:0019504 "ICD10CM:H16.2" MONDO:0019504 "Orphanet:88633" MONDO:0019504 "UMLS:C0339229" MONDO:0019504 "SCTID:231903005" MONDO:0019504 "GARD:0010940" -MONDO:0019504 "ICD10:H16.2" MONDO:0019504 "ICD9:370.49" -MONDO:0009848 "ICD10:L08.8" MONDO:0009848 "SCTID:77333008" MONDO:0009848 "MedDRA:10056961" MONDO:0009848 "UMLS:C0263506" @@ -32167,38 +31410,39 @@ MONDO:0009848 "OMIM:260910" MONDO:0009848 "ICD9:704.8" MONDO:0009848 "MESH:C562486" MONDO:0009848 "Orphanet:345" +MONDO:0009848 "ICD10CM:L08.8" MONDO:0015019 "OMIM:617321" MONDO:0015019 "UMLS:C4310620" MONDO:0015019 "SCTID:768667002" MONDO:0015369 "UMLS:CN199461" MONDO:0015369 "Orphanet:140874" MONDO:0001173 "DOID:10973" +MONDO:0001173 "ICD10CM:N70.01" MONDO:0001173 "SCTID:8912009" -MONDO:0001173 "ICD10:N70.01" MONDO:0001173 "NCIT:C40120" MONDO:0001173 "UMLS:C0269038" -MONDO:0017569 "PMID:18388779" -MONDO:0017569 "DOID:0070143" +MONDO:0017569 "MESH:C535990" +MONDO:0017569 "SCTID:59252009" MONDO:0017569 "OMIM:614438" -MONDO:0017569 "GARD:0000049" MONDO:0017569 "OMIM:219150" -MONDO:0017569 "SCTID:59252009" +MONDO:0017569 "GARD:0000049" MONDO:0017569 "GARD:49" -MONDO:0017569 "MESH:C535990" +MONDO:0017569 "PMID:18388779" +MONDO:0017569 "ICD10CM:Q87.8" +MONDO:0017569 "DOID:0070143" MONDO:0017569 "SCTID:238826008" MONDO:0017569 "Orphanet:2962" -MONDO:0017569 "ICD10:Q87.8" MONDO:0016482 "Orphanet:231147" MONDO:0016482 "UMLS:CN201477" -MONDO:0016482 "ICD10:Q87.1" +MONDO:0016482 "ICD10CM:Q87.1" MONDO:0019999 "Orphanet:97945" NCBITaxon:29461 "GC_ID:11" MONDO:0013433 "OMIM:602114" MONDO:0013433 "SCTID:197441003" -MONDO:0013433 "ICD10:K83.0" MONDO:0013433 "GARD:0001280" MONDO:0013433 "UMLS:C0566602" MONDO:0013433 "Orphanet:171" +MONDO:0013433 "ICD10CM:K83.0" MONDO:0013433 "MedDRA:10036732" MONDO:0013433 "DOID:0060643" MONDO:0013433 "OMIM:613806" @@ -32209,9 +31453,9 @@ NCBITaxon:210 "PMID:1995031" NCBITaxon:210 "PMID:8494747" MONDO:0015206 "UMLS:C2931050" MONDO:0015206 "Orphanet:1088" -MONDO:0015206 "ICD10:Q87.1" MONDO:0015206 "GARD:0004739" MONDO:0015206 "MESH:C535871" +MONDO:0015206 "ICD10CM:Q87.1" MONDO:0003352 "UMLS:C1333098" MONDO:0003352 "DOID:5260" MONDO:0003352 "NCIT:C5495" @@ -32223,9 +31467,9 @@ MONDO:0002247 "NCIT:C131632" MONDO:0002247 "SCTID:76642003" MONDO:0002247 "MESH:D005171" MONDO:0018947 "UMLS:C0175709" +MONDO:0018947 "ICD10CM:G71.2" MONDO:0018947 "OMIM:160150" MONDO:0018947 "GARD:0000101" -MONDO:0018947 "ICD10:G71.2" MONDO:0018947 "Orphanet:595" MONDO:0018947 "DOID:14717" MONDO:0018947 "OMIMPS:160150" @@ -32240,6 +31484,7 @@ MONDO:0017884 "EFO:0000640" MONDO:0017884 "UMLS:C1306837" MONDO:0017884 "UMLS:CN205129" MONDO:0017884 "MESH:D002292" +MONDO:0017884 "ICD10CM:C64" MONDO:0017884 "OMIM:605074" MONDO:0017884 "SCTID:733608000" MONDO:0017884 "NCIT:C6975" @@ -32248,13 +31493,12 @@ MONDO:0017884 "UMLS:C1336078" MONDO:0017884 "Orphanet:319298" MONDO:0017884 "DOID:4465" MONDO:0017884 "ONCOTREE:PRCC" -MONDO:0017884 "ICD10:C64" MONDO:0017884 "GARD:0009575" MONDO:0017884 "GARD:0009572" MONDO:0017884 "UMLS:C0879257" -MONDO:0018830 "ICD10:I89.8" MONDO:0018830 "NCIT:C26867" MONDO:0018830 "MedDRA:10048640" +MONDO:0018830 "ICD10CM:I89.8" MONDO:0018830 "MESH:D000796" MONDO:0018830 "Wikipedia:Kimura's_disease" MONDO:0018830 "GARD:0006835" @@ -32265,13 +31509,13 @@ MONDO:0018830 "EFO:1000722" MONDO:0015808 "ICD9:701.8" MONDO:0015808 "Orphanet:178512" MONDO:0015808 "SCTID:404109006" -MONDO:0015808 "ICD10:C84.0" +MONDO:0015808 "ICD10CM:C84.0" MONDO:0015808 "UMLS:C1627767" MONDO:0015808 "NCIT:C35685" MONDO:0020025 "Orphanet:98048" -MONDO:0009050 "ICD10:D35.2" MONDO:0009050 "UMLS:C0010481" MONDO:0009050 "UMLS:C0221406" +MONDO:0009050 "ICD10CM:D35.2" MONDO:0009050 "DOID:7004" MONDO:0009050 "UMLS:C1306214" MONDO:0009050 "NCIT:C7462" @@ -32280,16 +31524,14 @@ MONDO:0009050 "OMIM:219090" MONDO:0009050 "MedDRA:10035109" MONDO:0009050 "SCTID:254958004" MONDO:0009050 "NCIT:C113210" -MONDO:0009050 "ICD10:E24.0" MONDO:0009050 "GARD:0012867" MONDO:0009050 "MESH:D049913" MONDO:0013791 "UMLS:C3281092" MONDO:0013791 "Orphanet:743" MONDO:0013791 "OMIM:614514" MONDO:0000916 "DOID:100" -MONDO:0000916 "ICD10:A00-A09" +MONDO:0000916 "ICD10CM:A00-A09" MONDO:0000916 "SCTID:266071000" -MONDO:0000916 "ICD10:A00.A09" MONDO:0000916 "ICD9:008.8" MONDO:0000916 "UMLS:C0152516" MONDO:0000916 "UMLS:C0178238" @@ -32298,7 +31540,6 @@ MONDO:0014874 "UMLS:C4310757" MONDO:0014874 "OMIM:617026" MONDO:0019498 "ICD9:134.1" MONDO:0019498 "MESH:D058285" -MONDO:0019498 "ICD10:B88.1" MONDO:0019498 "Orphanet:879" MONDO:0019498 "UMLS:C0277356" MONDO:0019498 "GARD:0000393" @@ -32311,22 +31552,20 @@ MONDO:0019327 "ICD9:759.6" MONDO:0019327 "Orphanet:79485" MONDO:0019327 "SCTID:703285005" MONDO:0019327 "UMLS:CN205986" -MONDO:0019327 "ICD10:Q85.8" +MONDO:0019327 "ICD10CM:Q85.8" MONDO:0018010 "Orphanet:329888" MONDO:0021678 "MESH:D016905" MONDO:0021678 "ICD9:041.85" MONDO:0021678 "SCTID:371583007" MONDO:0016989 "MedDRA:10017406" +MONDO:0016989 "ICD10CM:H20.8" MONDO:0016989 "Orphanet:263479" MONDO:0016989 "GARD:0006791" -MONDO:0016989 "ICD10:H20.8" MONDO:0000465 "DOID:0050820" MONDO:0000465 "HP:0001678" MONDO:0000465 "NCIT:C26703" MONDO:0000465 "SCTID:233917008" MONDO:0000465 "UMLS:C0004245" -MONDO:0000465 "ICD10:I44.3" -MONDO:0000465 "ICD10:I44.30" MONDO:0000465 "ICD9:426.10" MONDO:0000465 "MESH:D054537" MONDO:0000118 "OMIMPS:179850" @@ -32339,8 +31578,8 @@ MONDO:0009178 "ICD9:757.39" MONDO:0009178 "OMIM:226500" MONDO:0020340 "Orphanet:98889" MONDO:0020340 "OMIM:300388" -MONDO:0020340 "ICD10:Q04.3" MONDO:0020340 "GARD:0006011" +MONDO:0020340 "ICD10CM:Q04.3" MONDO:0020340 "OMIM:615752" MONDO:0020340 "OMIM:616531" MONDO:0007310 "MESH:C566137" @@ -32356,14 +31595,14 @@ MONDO:0020717 "OMIM:194300" MONDO:0020717 "DOID:0111573" CL:0000307 "FMA:74793" MONDO:0017251 "Orphanet:280847" -MONDO:0017251 "ICD10:Q33.0" +MONDO:0017251 "ICD10CM:Q33.0" MONDO:0001867 "ICD9:117.8" MONDO:0001867 "SCTID:47158003" MONDO:0001867 "DOID:14049" MONDO:0001867 "GARD:0012803" MONDO:0001867 "MESH:D060446" -MONDO:0004677 "ICD10:B36.1" MONDO:0004677 "UMLS:C0152067" +MONDO:0004677 "ICD10CM:B36.1" MONDO:0004677 "ICD9:111.1" MONDO:0004677 "SCTID:183342005" MONDO:0004677 "DOID:8912" @@ -32382,46 +31621,45 @@ MONDO:0009365 "Orphanet:2189" MONDO:0009365 "UMLS:C1856016" MONDO:0009365 "OMIM:236680" MONDO:0012714 "OMIM:611705" +MONDO:0012714 "ICD10CM:G71.8" MONDO:0012714 "MESH:C567129" MONDO:0012714 "SCTID:702343002" MONDO:0012714 "UMLS:C2673677" -MONDO:0012714 "ICD10:G71.8" MONDO:0012714 "Orphanet:289377" MONDO:0022823 "GARD:0001477" MONDO:0010839 "OMIM:600175" MONDO:0010839 "DOID:0111215" MONDO:0010839 "Orphanet:1216" -MONDO:0010839 "ICD10:G12.2" MONDO:0010839 "MESH:C563981" +MONDO:0010839 "ICD10CM:G12.2" MONDO:0010839 "SCTID:763067000" MONDO:0010839 "UMLS:C1838492" MONDO:0015293 "SCTID:763867001" MONDO:0015293 "UMLS:CN199243" MONDO:0015293 "Orphanet:137608" -MONDO:0011033 "ICD10:E10" MONDO:0011033 "DOID:0110752" MONDO:0011033 "UMLS:C1832474" MONDO:0011033 "OMIM:601318" MONDO:0011033 "MESH:C563352" -MONDO:0005281 "ICD9:575.9" +MONDO:0005281 "UMLS:C0016977" MONDO:0005281 "MESH:D005705" -MONDO:0005281 "EFO:0003832" MONDO:0005281 "OMIM:611465" -MONDO:0005281 "OMIM:609919" -MONDO:0005281 "ICD10:K82" -MONDO:0005281 "SCTID:39621005" -MONDO:0005281 "ICD10:K82.9" +MONDO:0005281 "OMIM:609918" +MONDO:0005281 "ICD10CM:K80-K87" MONDO:0005281 "DOID:0060262" +MONDO:0005281 "ICD9:575.8" +MONDO:0005281 "SCTID:39621005" +MONDO:0005281 "OMIM:609919" +MONDO:0005281 "ICD10CM:K82" +MONDO:0005281 "ICD9:575.9" +MONDO:0005281 "EFO:0003832" MONDO:0005281 "NCIT:C34631" -MONDO:0005281 "UMLS:C0016977" -MONDO:0005281 "OMIM:609918" MONDO:0005281 "OMIMPS:600803" -MONDO:0005281 "ICD9:575.8" -MONDO:0008798 "ICD10:Q84.3" MONDO:0008798 "MESH:C536377" MONDO:0008798 "Orphanet:94150" MONDO:0008798 "OMIM:206800" MONDO:0008798 "DOID:0080082" +MONDO:0008798 "ICD10CM:Q84.3" MONDO:0008798 "Orphanet:79143" MONDO:0008798 "DOID:0050643" MONDO:0023224 "GARD:0002455" @@ -32431,7 +31669,6 @@ MONDO:0002163 "DOID:1975" MONDO:0009744 "SCTID:720830009" MONDO:0009744 "NCIT:C85861" MONDO:0009744 "GARD:0001219" -MONDO:0009744 "ICD10:E75.4" MONDO:0009744 "Orphanet:168486" MONDO:0009744 "DOID:0110721" MONDO:0009744 "Orphanet:168491" @@ -32444,9 +31681,10 @@ MONDO:0009744 "OMIM:610127" MONDO:0009744 "Orphanet:79263" MONDO:0009744 "Orphanet:79264" MONDO:0009744 "OMIM:214200" +MONDO:0009744 "ICD10CM:E75.4" +MONDO:0013036 "ICD10CM:Q87.8" MONDO:0013036 "OMIM:612916" MONDO:0013036 "MESH:C567865" -MONDO:0013036 "ICD10:Q87.8" MONDO:0013036 "UMLS:C2752047" MONDO:0013036 "GARD:0010582" MONDO:0013036 "Orphanet:217017" @@ -32457,22 +31695,23 @@ MONDO:0013212 "MESH:C567653" MONDO:0013212 "OMIM:613287" MONDO:0013212 "DOID:0110177" MONDO:0013212 "SCTID:719515001" +MONDO:0013212 "ICD10CM:G60.0" MONDO:0013212 "Orphanet:228174" -MONDO:0013212 "ICD10:G60.0" MONDO:0017758 "Orphanet:309827" MONDO:0017758 "UMLS:CN227203" MONDO:0010533 "GARD:0008756" MONDO:0010533 "SCTID:702441001" MONDO:0010533 "ICD9:277.2" +MONDO:0010533 "ICD10CM:E79.8" MONDO:0010533 "UMLS:C0796028" MONDO:0010533 "Orphanet:1187" MONDO:0010533 "MESH:C535388" -MONDO:0010533 "ICD10:E79.8" MONDO:0010533 "OMIM:301835" MONDO:0010533 "DOID:0050647" MONDO:0043895 "MESH:D016512" MONDO:0043895 "SCTID:125603006" MONDO:0043895 "EFO:1001832" +MONDO:0043895 "ICD10CM:S90-S99" MONDO:0012298 "OMIM:609545" MONDO:0012298 "MESH:C563701" MONDO:0012298 "GARD:0010354" @@ -32503,9 +31742,8 @@ MONDO:0014477 "DOID:0080461" MONDO:0014477 "UMLS:C4015119" MONDO:0012200 "MESH:C563788" MONDO:0012200 "Orphanet:98973" -MONDO:0012200 "ICD10:H18.50" -MONDO:0012200 "UMLS:C1836724" MONDO:0012200 "OMIM:609141" +MONDO:0012200 "UMLS:C1836724" MONDO:0012200 "DOID:0110857" HP:0100000 "UMLS:C4022392" NCBITaxon:565995 "GC_ID:1" @@ -32522,7 +31760,6 @@ HP:0006562 "SNOMEDCT_US:3738000" MONDO:0012695 "OMIM:611561" MONDO:0012695 "DOID:0070119" MONDO:0012695 "UMLS:C1969052" -MONDO:0012695 "ICD10:Q61.9" MONDO:0012695 "MESH:C566915" MONDO:0012695 "Orphanet:564" MONDO:0011441 "ICD9:337.21" @@ -32531,9 +31768,8 @@ MONDO:0011441 "Orphanet:83452" MONDO:0011441 "UMLS:C0034931" MONDO:0011441 "MedDRA:10038249" MONDO:0011441 "ICD9:733.7" -MONDO:0011441 "ICD10:M89.0" +MONDO:0011441 "ICD10CM:M89.0" MONDO:0011441 "DOID:1811" -MONDO:0011441 "ICD10:G90.5" MONDO:0011441 "ICD9:337.2" MONDO:0011441 "NCIT:C85042" MONDO:0011441 "SCTID:50642008" @@ -32545,17 +31781,16 @@ MONDO:0011441 "MESH:D012019" MONDO:0011441 "OMIM:604335" MONDO:0011529 "Orphanet:98768" MONDO:0011529 "OMIM:605259" +MONDO:0011529 "ICD10CM:G11.2" MONDO:0011529 "UMLS:C1854488" MONDO:0011529 "SCTID:719209002" MONDO:0011529 "MESH:C537195" MONDO:0011529 "DOID:0050963" MONDO:0011529 "GARD:0009611" -MONDO:0011529 "ICD10:G11.2" MONDO:0011529 "UMLS:C4304884" MONDO:0013641 "UMLS:C3280214" MONDO:0013641 "OMIM:614225" MONDO:0013641 "Orphanet:2510" -MONDO:0013641 "ICD10:Q87.0" MONDO:0013641 "DOID:0110717" MONDO:0020592 "SCTID:75860007" MONDO:0020592 "GARD:0007266" @@ -32573,25 +31808,24 @@ NCBITaxon:9845 "GC_ID:1" MONDO:0010125 "MESH:C564769" MONDO:0010125 "UMLS:C1848816" MONDO:0010125 "OMIM:274205" -MONDO:0010125 "ICD10:Q87.8" +MONDO:0010125 "ICD10CM:Q87.8" MONDO:0010125 "Orphanet:2489" MONDO:0016287 "UMLS:CN201077" MONDO:0016287 "Orphanet:213828" -MONDO:0016287 "ICD10:C53.1" -MONDO:0016287 "ICD10:C53.8" -MONDO:0016287 "ICD10:C53.0" +MONDO:0016287 "ICD10CM:C53.1" +MONDO:0016287 "ICD10CM:C53.8" +MONDO:0016287 "ICD10CM:C53.0" MONDO:0012882 "MESH:C567531" MONDO:0012882 "OMIM:612372" NCBITaxon:84526 "GC_ID:1" MONDO:0015072 "UMLS:C3273031" +MONDO:0015072 "ICD10CM:C22.7" MONDO:0015072 "Orphanet:100085" MONDO:0015072 "UMLS:CN197365" -MONDO:0015072 "ICD10:C22.7" MONDO:0015072 "SCTID:716652006" MONDO:0015072 "NCIT:C96787" MONDO:0054765 "OMIM:617920" MONDO:0008110 "OMIM:164190" -MONDO:0012023 "ICD10:H90.3" MONDO:0012023 "MESH:C564250" MONDO:0012023 "OMIM:608372" MONDO:0012023 "DOID:0110572" @@ -32600,17 +31834,17 @@ MONDO:0003157 "ICD9:733.09" MONDO:0003157 "DOID:4837" MONDO:0003157 "SCTID:240161003" MONDO:0003157 "UMLS:C0029436" +MONDO:0010711 "ICD10CM:Q87.8" MONDO:0010711 "UMLS:C1839463" MONDO:0010711 "Orphanet:2886" MONDO:0010711 "OMIM:311900" MONDO:0010711 "GARD:0010089" -MONDO:0010711 "ICD10:Q87.8" MONDO:0010711 "DOID:0111780" MONDO:0010711 "SCTID:725911008" MONDO:0010711 "MESH:C536942" -MONDO:0021517 "ICD10:D14.2" MONDO:0021517 "UMLS:C0153953" MONDO:0021517 "NCIT:C3602" +MONDO:0021517 "ICD10CM:D14.2" MONDO:0021517 "SCTID:92446002" MONDO:0021517 "ICD9:212.2" MONDO:0000630 "DOID:0060092" @@ -32619,8 +31853,8 @@ MONDO:0006533 "MESH:D018424" MONDO:0006533 "DOID:10964" MONDO:0006533 "ICD9:385.3" MONDO:0006533 "NCIT:C3654" -MONDO:0006533 "ICD10:H71" MONDO:0006533 "ICD9:385.33" +MONDO:0006533 "ICD10CM:H71" MONDO:0006533 "EFO:1000678" MONDO:0006533 "SCTID:194339007" MONDO:0006533 "ICD9:385.32" @@ -32629,7 +31863,6 @@ MONDO:0010312 "UMLS:C1845717" MONDO:0010312 "OMIM:300378" MONDO:0016474 "SCTID:80258006" MONDO:0016474 "Orphanet:231111" -MONDO:0016474 "ICD10:M32.0" MONDO:0016474 "NCIT:C114354" MONDO:0016474 "MedDRA:10013706" MONDO:0016474 "DOID:0040093" @@ -32638,16 +31871,16 @@ MONDO:0044885 "UMLS:C1336764" MONDO:0044885 "NCIT:C5989" MONDO:0013464 "OMIM:613855" MONDO:0013464 "Orphanet:211067" +MONDO:0013464 "ICD10CM:G11.8" MONDO:0013464 "MESH:C566601" -MONDO:0013464 "ICD10:G11.8" MONDO:0013464 "DOID:0050993" MONDO:0013464 "SCTID:718756005" MONDO:0013464 "UMLS:C1866039" +MONDO:0008588 "ICD10CM:G25.3" MONDO:0008588 "MESH:C537682" MONDO:0008588 "GARD:0009501" MONDO:0008588 "UMLS:C2931589" MONDO:0008588 "OMIM:190100" -MONDO:0008588 "ICD10:G25.3" MONDO:0008588 "SCTID:718103001" MONDO:0008588 "Orphanet:53372" NCBITaxon:31286 "GC_ID:1" @@ -32659,20 +31892,20 @@ MONDO:0005131 "DOID:2893" MONDO:0005131 "NCIT:C9039" MONDO:0005131 "DOID:4362" MONDO:0007100 "MESH:C567782" -MONDO:0007100 "ICD10:E85.1+" MONDO:0007100 "UMLS:C0206245" MONDO:0007100 "EFO:0004129" +MONDO:0007100 "ICD10EXP:G63.3*" MONDO:0007100 "NCIT:C84554" MONDO:0007100 "SCTID:42295001" MONDO:0007100 "DOID:0050638" MONDO:0007100 "OMIM:105210" MONDO:0007100 "GARD:0000656" +MONDO:0007100 "ICD10EXP:E85.1+" MONDO:0007100 "Orphanet:85451" MONDO:0007100 "Orphanet:85447" MONDO:0007100 "UMLS:C2751492" MONDO:0007100 "ICD9:277.39" MONDO:0007100 "DOID:0050761" -MONDO:0007100 "ICD10:G63.3*" MONDO:0007974 "NCIT:C141424" MONDO:0007974 "MESH:C566947" MONDO:0007974 "DOID:0070031" @@ -32681,20 +31914,18 @@ MONDO:0007974 "Orphanet:228402" MONDO:0015579 "SCTID:5300004" MONDO:0015579 "Orphanet:163596" MONDO:0015579 "OMIM:236750" -MONDO:0015579 "ICD10:D56.0" +MONDO:0015579 "ICD10CM:D56.0" MONDO:0015579 "ICD9:282.49" MONDO:0012170 "MESH:C563815" MONDO:0012170 "OMIM:609006" MONDO:0012170 "DOID:0110494" -MONDO:0012170 "ICD10:H90.3" MONDO:0032568 "OMIM:618158" MONDO:0016521 "SCTID:716338001" +MONDO:0016521 "ICD10CM:E03.1" MONDO:0016521 "Orphanet:2349" -MONDO:0016521 "ICD10:E03.1" MONDO:0037256 "UMLS:C1335951" MONDO:0037256 "NCIT:C7074" MONDO:0002449 "SCTID:72620002" -MONDO:0002449 "ICD10:H18.45" MONDO:0002449 "DOID:2879" MONDO:0002449 "ICD9:371.46" MONDO:0002449 "UMLS:C0155122" @@ -32704,22 +31935,22 @@ MONDO:0010295 "OMIM:300301" MONDO:0010295 "SCTID:720986005" MONDO:0010295 "Orphanet:69088" MONDO:0010295 "MESH:C564538" -MONDO:0010295 "ICD10:Q78.2" +MONDO:0010295 "ICD10CM:Q78.2" MONDO:0016695 "MedDRA:10030286" -MONDO:0016695 "ICD10:C79.1" MONDO:0016695 "MESH:D009837" MONDO:0016695 "NCIT:C6960" MONDO:0016695 "UMLS:C1335110" MONDO:0016695 "GARD:0009953" MONDO:0016695 "ICDO:9450/3" MONDO:0016695 "NCIT:C3288" -MONDO:0016695 "ICD10:C71.9" MONDO:0016695 "DOID:3181" MONDO:0016695 "OMIM:616568" MONDO:0016695 "ONCOTREE:ODG" MONDO:0016695 "Orphanet:251627" MONDO:0016695 "OMIM:137800" +MONDO:0016695 "ICD10CM:C79.1" MONDO:0018895 "SCTID:80126007" +MONDO:0018895 "ICD10CM:D50.1" MONDO:0018895 "MESH:D011004" MONDO:0018895 "UMLS:C0032249" MONDO:0018895 "GARD:0008259" @@ -32727,19 +31958,18 @@ MONDO:0018895 "Orphanet:54028" MONDO:0018895 "NCIT:C85016" MONDO:0018895 "MedDRA:10040664" MONDO:0018895 "ICD9:280.8" -MONDO:0018895 "ICD10:D50.1" MONDO:0008659 "MESH:C562798" MONDO:0008659 "SCTID:237933007" +MONDO:0008659 "ICD10CM:E53.8" MONDO:0008659 "UMLS:C0342700" MONDO:0008659 "Orphanet:2967" MONDO:0008659 "OMIM:193090" -MONDO:0008659 "ICD10:E53.8" MONDO:0008659 "GARD:0005239" NCBITaxon:91493 "GC_ID:1" NCBITaxon:138950 "GC_ID:1" MONDO:0012519 "UMLS:C1864648" MONDO:0012519 "OMIM:610543" -MONDO:0012519 "ICD10:Q87.2" +MONDO:0012519 "ICD10CM:Q87.2" MONDO:0012519 "Orphanet:783" MONDO:0012519 "Orphanet:353281" MONDO:0012519 "GARD:0010754" @@ -32752,10 +31982,10 @@ MONDO:0017923 "UMLS:C0342282" MONDO:0017923 "OMIMPS:186500" MONDO:0017923 "OMIM:186500" MONDO:0017923 "UMLS:CN204052" -MONDO:0017923 "ICD10:Q78.8" MONDO:0017923 "Orphanet:3237" MONDO:0017923 "OMIM:612961" MONDO:0017923 "OMIM:610017" +MONDO:0017923 "ICD10CM:Q78.8" MONDO:0021045 "MESH:D018225" MONDO:0021045 "NCIT:C3743" MONDO:0021045 "EFO:0007271" @@ -32774,7 +32004,7 @@ MONDO:0007607 "MedDRA:10067736" MONDO:0020371 "UMLS:C0271111" MONDO:0020371 "UMLS:CN207238" MONDO:0020371 "Orphanet:98981" -MONDO:0020371 "ICD10:H21.2" +MONDO:0020371 "ICD10CM:H21.2" MONDO:0020371 "ICD9:364.51" MONDO:0020371 "SCTID:25913001" NCBITaxon:633 "PMID:2223608" @@ -32787,18 +32017,17 @@ MONDO:0003402 "ONCOTREE:TYST" MONDO:0003402 "UMLS:C0279708" MONDO:0003402 "UMLS:C0014145" MONDO:0003402 "EFO:1000574" -MONDO:0016066 "ICD10:Q76.7" MONDO:0016066 "ICD9:756.3" MONDO:0016066 "GARD:0005012" MONDO:0016066 "UMLS:C2931507" MONDO:0016066 "Orphanet:2017" MONDO:0016066 "MESH:C537489" +MONDO:0016066 "ICD10CM:Q76.7" MONDO:0016066 "SCTID:54008006" NCBITaxon:5593 "GC_ID:1" -MONDO:0017277 "ICD10:Q93.5" MONDO:0017277 "Orphanet:282124" +MONDO:0017277 "ICD10CM:Q93.5" MONDO:0000288 "DOID:0050218" -MONDO:0001362 "ICD10:H44.53" MONDO:0001362 "UMLS:C0152458" MONDO:0001362 "SCTID:1361009" MONDO:0001362 "DOID:11772" @@ -32814,11 +32043,12 @@ MONDO:0042485 "NCIT:C26700" MONDO:0042485 "GARD:0006781" MONDO:0001620 "ICD9:087.0" MONDO:0001620 "UMLS:C0152061" +MONDO:0001620 "ICD10CM:A68.0" MONDO:0001620 "NCIT:C128426" MONDO:0001620 "SCTID:14683004" -MONDO:0001620 "ICD10:A68.0" MONDO:0001620 "DOID:13035" MONDO:0007523 "OMIM:130020" +MONDO:0007523 "ICD10CM:Q79.6" MONDO:0007523 "Orphanet:285" MONDO:0007523 "GARD:0002081" MONDO:0007523 "MESH:C536196" @@ -32826,7 +32056,6 @@ MONDO:0007523 "UMLS:C0268337" MONDO:0007523 "SCTID:30652003" MONDO:0007523 "DOID:14757" MONDO:0007523 "NCIT:C125698" -MONDO:0007523 "ICD10:Q79.6" HP:0000078 "UMLS:C0744356" HP:0000078 "UMLS:C0281966" MONDO:0016137 "Orphanet:207038" @@ -32844,11 +32073,10 @@ MONDO:0006121 "EFO:1000148" MONDO:0006121 "NCIT:C6488" MONDO:0018316 "UMLS:CN204961" MONDO:0018316 "Orphanet:391343" -MONDO:0018316 "ICD10:G04.8" +MONDO:0018316 "ICD10CM:G04.8" MONDO:0007406 "UMLS:C1852457" MONDO:0007406 "MESH:C565142" MONDO:0007406 "OMIM:123540" -MONDO:0010713 "ICD10:D84.1" MONDO:0010713 "Orphanet:2966" MONDO:0010713 "ICD9:279.8" MONDO:0010713 "SCTID:81166004" @@ -32856,6 +32084,7 @@ MONDO:0010713 "GARD:0004513" MONDO:0010713 "GARD:0009913" MONDO:0010713 "OMIM:312060" MONDO:0010713 "MESH:C537241" +MONDO:0010713 "ICD10CM:D84.1" MONDO:0010713 "DOID:0111768" MONDO:0033558 "OMIM:618999" MONDO:0013160 "OMIM:613156" @@ -32863,11 +32092,10 @@ MONDO:0013160 "Orphanet:370959" MONDO:0013160 "Orphanet:370968" MONDO:0013160 "NCIT:C126690" MONDO:0013160 "UMLS:C3150416" -MONDO:0015378 "ICD10:Q18.0" +MONDO:0015378 "ICD10CM:Q18.0" MONDO:0015378 "SCTID:707234001" MONDO:0015378 "Orphanet:141037" MONDO:0014469 "OMIM:616042" -MONDO:0014469 "ICD10:H90.3" MONDO:0014469 "UMLS:C4015050" MONDO:0014469 "DOID:0110464" MONDO:0011285 "DOID:0110014" @@ -32875,7 +32103,6 @@ MONDO:0011285 "OMIM:603075" MONDO:0011285 "MESH:C566411" MONDO:0011285 "UMLS:C1864205" MONDO:0001791 "ICD9:771.82" -MONDO:0001791 "ICD10:P39.3" MONDO:0001791 "DOID:1375" MONDO:0001791 "SCTID:12301009" MONDO:0001791 "UMLS:C0235815" @@ -32888,15 +32115,15 @@ MONDO:0008438 "UMLS:C4510079" MONDO:0008438 "GARD:0004925" MONDO:0008438 "DOID:0110792" MONDO:0008438 "Orphanet:100985" -MONDO:0008438 "ICD10:G11.4" MONDO:0008438 "NCIT:C129981" MONDO:0008438 "SCTID:723820001" +MONDO:0008438 "ICD10CM:G11.4" MONDO:0008438 "MESH:C536865" MONDO:0008438 "UMLS:C1866855" MONDO:0008438 "OMIM:182601" MONDO:0009512 "OMIM:245650" -MONDO:0009512 "ICD10:Q74.8" MONDO:0009512 "MESH:C537872" +MONDO:0009512 "ICD10CM:Q74.8" MONDO:0009512 "UMLS:C4304741" MONDO:0009512 "SCTID:719409004" MONDO:0009512 "GARD:0003181" @@ -32906,16 +32133,8 @@ MONDO:0014679 "Orphanet:98889" MONDO:0014679 "Orphanet:268940" MONDO:0014679 "OMIM:616531" MONDO:0014679 "UMLS:C4225295" -MONDO:0018503 "ICD10:C16.5" -MONDO:0018503 "ICD10:C16.4" MONDO:0018503 "Orphanet:423781" -MONDO:0018503 "ICD10:C16.3" -MONDO:0018503 "ICD10:C16.2" -MONDO:0018503 "ICD10:C16.8" -MONDO:0018503 "ICD10:C16.1" -MONDO:0018503 "ICD10:C16.0" MONDO:0018503 "UMLS:CN237508" -MONDO:0018503 "ICD10:C16.6" MONDO:0010900 "GARD:0005593" MONDO:0010900 "Orphanet:808" MONDO:0010900 "MESH:C536744" @@ -32938,23 +32157,23 @@ MONDO:0003680 "ICDO:9221/3" MONDO:0003680 "NCIT:C7357" MONDO:0003680 "UMLS:C0334549" MONDO:0009042 "UMLS:C1857471" -MONDO:0009042 "ICD10:Q04.3" MONDO:0009042 "GARD:0001605" MONDO:0009042 "MESH:C535597" MONDO:0009042 "SCTID:715422002" MONDO:0009042 "Orphanet:1528" +MONDO:0009042 "ICD10CM:Q04.3" MONDO:0009042 "OMIM:218670" MONDO:0014866 "Orphanet:443950" MONDO:0014866 "OMIM:617017" +MONDO:0014866 "OMIM:616233" +MONDO:0014866 "ICD10CM:G60.0" MONDO:0014866 "DOID:0110160" -MONDO:0014866 "ICD10:G60.0" MONDO:0014866 "UMLS:C4015635" -MONDO:0017056 "ICD10:Q93.5" MONDO:0017056 "UMLS:CN202414" +MONDO:0017056 "ICD10CM:Q93.5" MONDO:0017056 "Orphanet:268261" MONDO:0015744 "Orphanet:1717" MONDO:0015744 "SCTID:766052008" -MONDO:0015744 "ICD10:Q92.3" MONDO:0010117 "Orphanet:2616" MONDO:0010117 "OMIM:273750" MONDO:0020794 "NCIT:C43590" @@ -32968,9 +32187,9 @@ MONDO:0022612 "GARD:0010454" MONDO:0022612 "EFO:0008611" MONDO:0018497 "Orphanet:423662" MONDO:0019828 "UMLS:C4053775" +MONDO:0019828 "ICD10CM:E23.6" MONDO:0019828 "SCTID:715727009" MONDO:0019828 "NCIT:C121150" -MONDO:0019828 "ICD10:E23.6" MONDO:0019828 "UMLS:CN206776" MONDO:0019828 "Orphanet:95496" MONDO:0019828 "GARD:0013209" @@ -32985,10 +32204,10 @@ MONDO:0004990 "DOID:0060548" MONDO:0004990 "NCIT:C53554" MONDO:0015931 "Orphanet:182114" MONDO:0015931 "UMLS:CN200523" +MONDO:0004669 "ICD10CM:C08" MONDO:0004669 "ICD9:142.8" MONDO:0004669 "DOID:8850" MONDO:0004669 "NCIT:C3811" -MONDO:0004669 "ICD10:C08" MONDO:0004669 "MESH:D012468" MONDO:0004669 "SCTID:255072001" MONDO:0020677 "SCTID:79471008" @@ -32996,7 +32215,6 @@ MONDO:0011558 "MESH:C536492" MONDO:0011558 "DOID:0110839" MONDO:0011558 "GARD:0008497" MONDO:0011558 "NCIT:C153174" -MONDO:0011558 "ICD10:H35.5" MONDO:0011558 "Orphanet:886" MONDO:0011558 "OMIM:605472" MONDO:0011558 "Orphanet:231178" @@ -33005,9 +32223,6 @@ MONDO:0021381 "NCIT:C4651" MONDO:0021381 "SCTID:126734005" MONDO:0001212 "ICD9:381.4" MONDO:0001212 "SCTID:275481002" -MONDO:0001212 "ICD10:H65" -MONDO:0001212 "ICD10:H65.9" -MONDO:0001212 "ICD10:H65.90" MONDO:0001212 "DOID:11180" MONDO:0001212 "UMLS:C0271446" MONDO:0021210 "NCIT:C3419" @@ -33024,7 +32239,7 @@ MONDO:0043358 "NCIT:C63324" MONDO:0014154 "OMIM:615376" MONDO:0014154 "DOID:0110198" MONDO:0014154 "UMLS:C3809309" -MONDO:0014154 "ICD10:G60.0" +MONDO:0014154 "ICD10CM:G60.0" MONDO:0014154 "Orphanet:369867" MONDO:0002837 "UMLS:C0334271" MONDO:0002837 "ICDO:8122/3" @@ -33039,9 +32254,10 @@ MONDO:0012279 "OMIM:609456" MONDO:0012279 "MESH:C563716" MONDO:0012279 "UMLS:C1836133" MONDO:0008323 "MedDRA:10052313" -MONDO:0008323 "ICD10:I15.1" +MONDO:0008323 "ICD10CM:I15.1" MONDO:0008323 "MESH:D056929" MONDO:0008323 "GARD:0007381" +MONDO:0008323 "OMIM:177200" MONDO:0008323 "DOID:0050477" MONDO:0008323 "OMIMPS:177200" MONDO:0008323 "UMLS:C0221043" @@ -33062,23 +32278,22 @@ MONDO:0013395 "DOID:0110372" MONDO:0013395 "UMLS:C3151001" MONDO:0013395 "HGNC:10012" MONDO:0013395 "OMIM:613731" -MONDO:0013395 "ICD10:H35.5" MONDO:0013395 "GARD:0010405" MONDO:0013395 "MESH:C566706" MONDO:0014341 "OMIM:615771" MONDO:0014341 "UMLS:C4014283" MONDO:0014341 "DOID:0090136" +MONDO:0056799 "ICD10CM:M65-M67" MONDO:0056799 "SCTID:3519007" -MONDO:0056799 "ICD9:727.9" MONDO:0056799 "ICD9:727.89" +MONDO:0056799 "ICD9:727.9" MONDO:0056799 "UMLS:C0263945" -MONDO:0030032 "OMIM:618874" MONDO:0009764 "SCTID:405809000" MONDO:0009764 "GARD:0000016" MONDO:0009764 "MESH:C537423" -MONDO:0009764 "ICD10:H51.8" MONDO:0009764 "Orphanet:1125" MONDO:0009764 "OMIM:257550" +MONDO:0009764 "ICD10CM:H51.8" MONDO:0008994 "MESH:C565843" MONDO:0008994 "GARD:0010623" MONDO:0008994 "OMIM:216330" @@ -33090,19 +32305,19 @@ MONDO:0014319 "Orphanet:411709" MONDO:0009940 "SCTID:89647000" MONDO:0009940 "MESH:D058631" MONDO:0009940 "NCIT:C131187" -MONDO:0009940 "ICD10:Q78.8" MONDO:0009940 "UMLS:C0238402" +MONDO:0009940 "ICD10CM:Q78.8" MONDO:0009940 "OMIM:265800" MONDO:0009940 "Orphanet:763" MONDO:0009940 "GARD:0004611" MONDO:0009940 "DOID:0080038" MONDO:0013232 "OMIM:613342" MONDO:0013232 "SCTID:715470008" +MONDO:0013232 "ICD10CM:Q77.7" MONDO:0013232 "GARD:0000960" MONDO:0013232 "UMLS:C2931420" MONDO:0013232 "Orphanet:2619" MONDO:0013232 "MESH:C537086" -MONDO:0013232 "ICD10:Q77.7" MONDO:0005344 "MESH:D006509" MONDO:0005344 "EFO:0004197" MONDO:0005344 "SCTID:66071002" @@ -33116,9 +32331,8 @@ MONDO:0014790 "OMIM:616829" MONDO:0014790 "DOID:0070268" MONDO:0014790 "Orphanet:466703" HP:0003107 "UMLS:C4025656" -MONDO:0008720 "MESH:C535668" MONDO:0008720 "HP:0011748" -MONDO:0008720 "ICD10:E23.6" +MONDO:0008720 "MESH:C535668" MONDO:0008720 "ICD9:255.41" MONDO:0008720 "OMIM:201400" MONDO:0008720 "EFO:1001979" @@ -33127,6 +32341,7 @@ MONDO:0008720 "DOID:0080150" MONDO:0008720 "GARD:0005727" MONDO:0008720 "UMLS:C0342388" MONDO:0008720 "SCTID:237692001" +MONDO:0008720 "ICD10CM:E23.6" HP:0001317 "UMLS:C0742038" HP:0001317 "UMLS:C1866129" MONDO:0025667 "UMLS:C1561989" @@ -33137,8 +32352,10 @@ MONDO:0016734 "ICDO:9505/3" MONDO:0016734 "Orphanet:251957" MONDO:0016734 "ONCOTREE:AGNG" MONDO:0016734 "GARD:0010639" +MONDO:0020397 "ICD10CM:Q22.8" MONDO:0020397 "Orphanet:99056" -MONDO:0020397 "ICD10:Q22.8" +MONDO:0020573 "ICD10CM:Z15" +MONDO:0020573 "ICD10CM:Z14-Z15" MONDO:0020573 "MESH:D020022" MONDO:0044079 "SCTID:445236007" MONDO:0044079 "MESH:D059347" @@ -33148,7 +32365,6 @@ MONDO:0044079 "EFO:1001262" MONDO:0013611 "DOID:0110380" MONDO:0013611 "OMIM:614181" MONDO:0013611 "UMLS:C3280042" -MONDO:0013611 "ICD10:H35.5" MONDO:0003604 "SCTID:448148000" MONDO:0003604 "UMLS:C3163678" MONDO:0003604 "NCIT:C7047" @@ -33175,31 +32391,32 @@ MONDO:0007296 "GARD:0009975" MONDO:0007296 "UMLS:C4274986" MONDO:0007296 "Orphanet:217012" MONDO:0007296 "UMLS:C1861736" -MONDO:0007296 "ICD10:G11.8" MONDO:0007296 "OMIM:117210" +MONDO:0007296 "ICD10CM:G11.8" MONDO:0007296 "SCTID:715826005" MONDO:0008603 "OMIM:190440" MONDO:0008603 "Orphanet:3366" MONDO:0005984 "ICD9:110.4" MONDO:0005984 "UMLS:C0040259" +MONDO:0005984 "ICD10CM:B35.3" MONDO:0005984 "EFO:0007512" MONDO:0005984 "DOID:12403" MONDO:0005984 "MESH:D014008" MONDO:0005984 "SCTID:6020002" -MONDO:0005984 "ICD10:B35.3" MONDO:0100161 "Orphanet:89939" MONDO:0010180 "MESH:C535781" MONDO:0010180 "OMIM:616566" MONDO:0010180 "OMIM:608681" +MONDO:0010180 "ICD10CM:Q76.8" MONDO:0010180 "OMIM:609813" MONDO:0010180 "ICD9:756.9" MONDO:0010180 "SCTID:61367005" MONDO:0010180 "OMIM:613686" MONDO:0010180 "Orphanet:2311" MONDO:0010180 "UMLS:CN032975" -MONDO:0010180 "ICD10:Q76.8" -MONDO:0016617 "ICD10:M08.3" +MONDO:0010180 "OMIM:277300" MONDO:0016617 "Orphanet:247854" +MONDO:0016617 "ICD10CM:M08.3" MONDO:0000173 "UMLS:CN262500" MONDO:0000173 "OMIMPS:609308" CL:1000331 "FMA:263080" @@ -33215,7 +32432,6 @@ MONDO:0018089 "NCIT:C98916" MONDO:0018089 "Orphanet:3426" MONDO:0018089 "SCTID:204299009" MONDO:0018089 "MESH:D004310" -MONDO:0018089 "ICD10:Q20.1" MONDO:0018089 "OMIM:217095" MONDO:0018089 "MedDRA:10013611" MONDO:0018089 "GARD:0001908" @@ -33230,21 +32446,21 @@ MONDO:0015523 "ICDO:9133/3" MONDO:0015523 "SCTID:54124005" MONDO:0015523 "NCIT:C3800" MONDO:0015523 "ONCOTREE:EHAE" +MONDO:0015523 "ICD10CM:D18.0" MONDO:0015523 "ICDO:9130/3" -MONDO:0015523 "ICD10:D18.0" MONDO:0002616 "UMLS:C1334699" MONDO:0002616 "DOID:3350" MONDO:0002616 "NCIT:C7059" MONDO:0018308 "Orphanet:386" MONDO:0018308 "UMLS:C1333971" +MONDO:0018308 "ICD10CM:D13.4" MONDO:0018308 "GARD:0002651" -MONDO:0018308 "ICD10:D13.4" MONDO:0018308 "UMLS:C0334091" MONDO:0018308 "NCIT:C5751" MONDO:0018308 "SCTID:715397000" MONDO:0017221 "Orphanet:280210" +MONDO:0017221 "ICD10CM:E75.2" MONDO:0017221 "UMLS:CN202703" -MONDO:0017221 "ICD10:E75.2" MONDO:0008102 "Orphanet:166282" MONDO:0008102 "OMIM:163800" MONDO:0008102 "MESH:C563513" @@ -33264,7 +32480,7 @@ MONDO:0013904 "DOID:0111231" MONDO:0011840 "UMLS:C1843808" MONDO:0011840 "DOID:0110449" MONDO:0011840 "MESH:C564390" -MONDO:0011840 "ICD10:I42.0" +MONDO:0011840 "ICD10CM:I42.0" MONDO:0011840 "OMIM:607482" MONDO:0043759 "MESH:D011269" MONDO:0043759 "SCTID:82661006" @@ -33272,8 +32488,6 @@ MONDO:0043759 "NCIT:C92921" MONDO:0044705 "NCIT:C8193" MONDO:0044705 "UMLS:C0280334" MONDO:0044705 "Orphanet:500464" -MONDO:0020679 "NCIT:C27645" -MONDO:0020679 "SCTID:44057004" MONDO:0004907 "Orphanet:79364" MONDO:0004907 "UMLS:C0002170" MONDO:0004907 "NCIT:C50575" @@ -33281,10 +32495,11 @@ MONDO:0004907 "ICD9:704.0" MONDO:0004907 "DOID:987" MONDO:0004907 "SCTID:56317004" MONDO:0004907 "ICD9:704.00" -MONDO:0004907 "ICD10:L65.9" MONDO:0004907 "MESH:D000505" MONDO:0004907 "OMIM:300042" MONDO:0004907 "ICD9:704.09" +MONDO:0020679 "NCIT:C27645" +MONDO:0020679 "SCTID:44057004" MONDO:0006167 "EFO:1000200" MONDO:0006167 "NCIT:C7591" MONDO:0006167 "UMLS:C1333123" @@ -33294,15 +32509,15 @@ MONDO:0008597 "GARD:0007802" MONDO:0008597 "OMIM:190351" MONDO:0008597 "DOID:0080376" MONDO:0008597 "UMLS:C1860823" -MONDO:0018662 "ICD10:Q76.3" MONDO:0018662 "OMIM:271530" +MONDO:0018662 "ICD10CM:Q76.3" MONDO:0018662 "OMIM:271630" MONDO:0018662 "UMLS:CN237725" MONDO:0018662 "Orphanet:448242" MONDO:0009543 "OMIM:247990" MONDO:0009543 "MESH:C537714" MONDO:0009543 "GARD:0000144" -MONDO:0009543 "ICD10:Q87.8" +MONDO:0009543 "ICD10CM:Q87.8" MONDO:0009543 "UMLS:C0796024" MONDO:0009543 "Orphanet:2083" MONDO:0003658 "ICDO:9596/3" @@ -33320,21 +32535,20 @@ MONDO:0006377 "EFO:1000483" MONDO:0006377 "UMLS:C1709570" MONDO:0006377 "NCIT:C45665" MONDO:0005123 "EFO:0000782" +MONDO:0100289 "ICD10CM:H35.5" MONDO:0100289 "Orphanet:53540" MONDO:0100289 "GARD:0010781" -MONDO:0100289 "ICD10:H35.5" MONDO:0100289 "SCTID:232065000" MONDO:0011723 "OMIM:606773" MONDO:0011723 "Orphanet:141148" +MONDO:0011723 "ICD10CM:Q67.4" MONDO:0011723 "GARD:0010084" MONDO:0011723 "SCTID:699420006" -MONDO:0011723 "ICD10:Q67.4" MONDO:0011723 "ICD9:744.89" MONDO:0011723 "MESH:C535862" NCBITaxon:10566 "GC_ID:1" MONDO:0010965 "UMLS:C1832992" MONDO:0010965 "OMIM:600971" -MONDO:0010965 "ICD10:H90.3" MONDO:0010965 "MESH:C563418" MONDO:0010965 "DOID:0110512" MONDO:0004385 "UMLS:C1332220" @@ -33349,7 +32563,7 @@ MONDO:0000845 "GARD:0006444" MONDO:0000845 "DOID:0080031" MONDO:0000845 "Orphanet:249" MONDO:0000845 "SCTID:10623005" -MONDO:0000845 "ICD10:Q78.1" +MONDO:0000845 "ICD10CM:Q78.1" MONDO:0033925 "Orphanet:525731" MONDO:0019694 "Orphanet:93434" MONDO:0044926 "NCIT:C9105" @@ -33358,25 +32572,23 @@ MONDO:0054817 "UMLS:CN248514" MONDO:0017650 "Orphanet:306747" MONDO:0017650 "UMLS:CN227170" MONDO:0001876 "UMLS:C0155734" -MONDO:0001876 "ICD10:I70.1" MONDO:0001876 "DOID:14092" MONDO:0001876 "SCTID:45281005" +MONDO:0001876 "ICD10CM:I70.1" MONDO:0001876 "ICD9:440.1" MONDO:0023186 "UMLS:C2930912" MONDO:0023186 "GARD:0002373" MONDO:0023186 "MESH:C535481" -MONDO:0007779 "ICD10:Q87.8" MONDO:0007779 "Orphanet:306588" MONDO:0007779 "Orphanet:2745" MONDO:0007779 "OMIM:145410" +MONDO:0007779 "ICD10CM:Q87.8" +MONDO:0014601 "ICD10CM:Q87.8" MONDO:0014601 "Orphanet:397709" -MONDO:0014601 "ICD10:Q87.8" MONDO:0014601 "OMIM:616354" MONDO:0014601 "DOID:0080066" MONDO:0014601 "UMLS:C4225355" MONDO:0022820 "GARD:0001473" -MONDO:0006564 "ICD10:L24" -MONDO:0006564 "ICD10:L24.9" MONDO:0006564 "MESH:D017453" MONDO:0006564 "DOID:2772" MONDO:0006564 "EFO:1000718" @@ -33418,26 +32630,26 @@ NCBITaxon:147537 "GC_ID:1" MONDO:0021373 "NCIT:C5573" MONDO:0021373 "UMLS:C1263888" MONDO:0021373 "SCTID:126956001" -MONDO:0017767 "ICD10:I01.9" -MONDO:0017767 "ICD10:I01.0" +MONDO:0017767 "ICD10CM:I01.1" MONDO:0017767 "MESH:D012213" -MONDO:0017767 "ICD10:I00-I02" +MONDO:0017767 "ICD10CM:I01.2" +MONDO:0017767 "ICD10CM:I01.8" +MONDO:0017767 "ICD10CM:I00" MONDO:0017767 "UMLS:C0035436" MONDO:0017767 "OMIM:268240" -MONDO:0017767 "ICD10:I00" -MONDO:0017767 "ICD10:I01.8" +MONDO:0017767 "ICD10CM:I00-I02" +MONDO:0017767 "ICD10CM:I01.0" MONDO:0017767 "NCIT:C34984" MONDO:0017767 "GARD:0005699" MONDO:0017767 "MedDRA:10039054" MONDO:0017767 "EFO:1001160" -MONDO:0017767 "ICD10:I01.1" MONDO:0017767 "SCTID:58718002" MONDO:0017767 "DOID:1586" -MONDO:0017767 "ICD10:I01.2" +MONDO:0017767 "ICD10CM:I01.9" MONDO:0017767 "ICD9:390" MONDO:0017767 "Orphanet:3099" MONDO:0017767 "ICD9:390-392.99" -MONDO:0016513 "ICD10:D56.0" +MONDO:0016513 "ICD10CM:D56.0" MONDO:0016513 "Orphanet:232288" MONDO:0016513 "UMLS:CN201534" MONDO:0004404 "DOID:7936" @@ -33449,7 +32661,6 @@ MONDO:0006857 "MESH:D020244" MONDO:0006857 "UMLS:C0740392" MONDO:0006857 "DOID:3525" MONDO:0006857 "EFO:1001045" -MONDO:0003606 "ICD10:C74.1" MONDO:0003606 "UMLS:C0344456" MONDO:0003606 "UMLS:C0596046" MONDO:0003606 "NCIT:C4856" @@ -33466,7 +32677,6 @@ MONDO:0007803 "MedDRA:10064060" MONDO:0007803 "Orphanet:102" MONDO:0007803 "UMLS:C0037019" MONDO:0007803 "UMLS:C0393911" -MONDO:0007803 "ICD10:G90.3" MONDO:0007803 "GARD:0007079" CL:1000426 "FMA:69794" HP:0010311 "UMLS:C4023911" @@ -33475,7 +32685,7 @@ MONDO:0002491 "MESH:D019966" MONDO:0002491 "ICD9:305.90" MONDO:0002491 "DOID:302" MONDO:0002491 "NCIT:C16522" -MONDO:0014185 "ICD10:Q93.5" +MONDO:0014185 "ICD10CM:Q93.5" MONDO:0014185 "DOID:0060418" MONDO:0014185 "UMLS:CN036884" MONDO:0014185 "Orphanet:1621" @@ -33493,16 +32703,16 @@ MONDO:0016619 "GARD:0002057" MONDO:0016619 "SCTID:27025001" MONDO:0016619 "MESH:D053360" MONDO:0016619 "Orphanet:248" +MONDO:0016619 "ICD10CM:Q82.4" MONDO:0016619 "OMIM:614941" MONDO:0016619 "OMIM:224900" MONDO:0016619 "NCIT:C84580" MONDO:0016619 "UMLS:C0406702" -MONDO:0016619 "ICD10:Q82.4" MONDO:0018371 "Orphanet:399103" -MONDO:0018371 "ICD10:G71.0" -MONDO:0016129 "ICD10:K52.8" +MONDO:0018371 "ICD10CM:G71.0" MONDO:0016129 "GARD:0009142" MONDO:0016129 "ICD9:558.41" +MONDO:0016129 "ICD10CM:K52.8" MONDO:0016129 "NCIT:C35330" MONDO:0016129 "SCTID:359804008" MONDO:0016129 "MedDRA:10017902" @@ -33511,15 +32721,13 @@ MONDO:0016129 "Orphanet:2070" MONDO:0016129 "DOID:4031" MONDO:0017954 "Orphanet:324927" MONDO:0017954 "UMLS:CN204100" -MONDO:0007461 "ICD10:Q87.1" MONDO:0007461 "OMIM:126190" MONDO:0007461 "Orphanet:2868" +MONDO:0007461 "ICD10CM:Q87.1" MONDO:0007461 "MESH:C565094" MONDO:0007461 "UMLS:C1852073" MONDO:0005845 "MESH:D008590" MONDO:0005845 "SCTID:7125002" -MONDO:0005845 "ICD10:A69.22" -MONDO:0005845 "ICD10:G04" MONDO:0005845 "DOID:10554" MONDO:0005845 "NCIT:C34813" MONDO:0005845 "EFO:0007364" @@ -33537,33 +32745,32 @@ MONDO:0004801 "UMLS:C0155517" MONDO:0004801 "ICD9:386.53" MONDO:0004801 "DOID:9496" MONDO:0022822 "GARD:0006154" +MONDO:0033211 "OMIMPS:251280" MONDO:0008493 "OMIM:185000" MONDO:0008493 "UMLS:C1861455" -MONDO:0008493 "ICD10:D58.8" +MONDO:0008493 "ICD10CM:D58.8" MONDO:0008493 "SCTID:722125003" MONDO:0008493 "DOID:0111562" MONDO:0008493 "Orphanet:3203" MONDO:0008493 "GARD:0004183" MONDO:0008493 "MESH:C566111" -MONDO:0033211 "OMIMPS:251280" MONDO:0008408 "SCTID:230248006" +MONDO:0008408 "ICD10CM:G12.1" MONDO:0008408 "ICD9:335.19" MONDO:0008408 "OMIM:181405" -MONDO:0008408 "ICD10:G12.1" MONDO:0008408 "Orphanet:431255" MONDO:0008408 "DOID:0111552" MONDO:0008408 "EFO:1001992" MONDO:0008408 "GARD:0010314" MONDO:0019126 "Orphanet:73014" -MONDO:0009966 "ICD10:Q61.9" MONDO:0009966 "DOID:0070121" MONDO:0009966 "UMLS:C2673885" MONDO:0009966 "GARD:0004665" +MONDO:0009966 "ICD10CM:Q61.9" MONDO:0009966 "Orphanet:3032" MONDO:0009966 "PMID:18371931" MONDO:0009966 "MESH:C537756" MONDO:0009966 "OMIM:267010" -MONDO:0013434 "ICD10:Q34.8" MONDO:0013434 "UMLS:C3151136" MONDO:0013434 "Orphanet:244" MONDO:0013434 "DOID:0110598" @@ -33571,19 +32778,19 @@ MONDO:0013434 "OMIM:613807" MONDO:0002866 "ICD9:537.89" MONDO:0002866 "SCTID:52182008" MONDO:0002866 "UMLS:C0013289" +MONDO:0002866 "ICD10CM:K20-K31" MONDO:0002866 "DOID:4072" MONDO:0002866 "ICD9:537.9" MONDO:0002866 "MESH:D004378" MONDO:0015042 "UMLS:CN197327" MONDO:0015042 "Orphanet:100021" -MONDO:0015042 "ICD10:C90.3" MONDO:0011725 "MESH:C536213" MONDO:0011725 "OMIM:606785" MONDO:0011725 "UMLS:C2931132" MONDO:0011725 "GARD:0008683" MONDO:0011725 "SCTID:68067009" MONDO:0011725 "MedDRA:10011387" -MONDO:0011725 "ICD10:E80.5" +MONDO:0011725 "ICD10CM:E80.5" MONDO:0011725 "Orphanet:205" MONDO:0011725 "Orphanet:79235" MONDO:0017885 "GARD:0006064" @@ -33593,16 +32800,16 @@ MONDO:0017885 "UMLS:C1266042" MONDO:0017885 "Orphanet:319303" MONDO:0017885 "UMLS:C3887514" MONDO:0017885 "ONCOTREE:CHRCC" +MONDO:0017885 "ICD10CM:C64" MONDO:0017885 "ICDO:8270/3" -MONDO:0017885 "ICD10:C64" MONDO:0017885 "NCIT:C4146" MONDO:0017885 "ICDO:8317/3" MONDO:0017885 "EFO:0000335" MONDO:0017885 "MESH:D002292" MONDO:0019505 "OMIM:616494" +MONDO:0019505 "ICD10CM:G11.1" MONDO:0019505 "UMLS:CN206304" MONDO:0019505 "OMIM:607694" -MONDO:0019505 "ICD10:G11.1" MONDO:0019505 "Orphanet:88637" MONDO:0019505 "OMIM:614381" MONDO:0007890 "OMIM:151000" @@ -33612,11 +32819,11 @@ MONDO:0009849 "GARD:0002788" MONDO:0009849 "Orphanet:343" MONDO:0009849 "UMLS:C0398691" MONDO:0009849 "OMIM:260920" -MONDO:0009849 "ICD10:E85.0" +MONDO:0009849 "ICD10CM:E85.0" MONDO:0009051 "GARD:0001633" MONDO:0009051 "UMLS:C1857449" +MONDO:0009051 "ICD10CM:L57.8" MONDO:0009051 "MESH:C536224" -MONDO:0009051 "ICD10:L57.8" MONDO:0009051 "OMIM:219095" MONDO:0009051 "Orphanet:2881" MONDO:0014875 "OMIM:617027" @@ -33629,21 +32836,20 @@ MONDO:0004038 "UMLS:C0011351" MONDO:0004038 "MESH:D003744" MONDO:0004795 "SCTID:3135009" MONDO:0004795 "MESH:D010032" -MONDO:0004795 "ICD10:H60" +MONDO:0004795 "ICD10CM:H60" MONDO:0004795 "DOID:9463" MONDO:0004795 "ICD9:380.10" MONDO:0004795 "ICD9:380.1" MONDO:0004795 "NCIT:C3299" +MONDO:0016483 "ICD10CM:I67.1" MONDO:0016483 "SCTID:703226008" MONDO:0016483 "OMIM:610213" MONDO:0016483 "HP:0007029" MONDO:0016483 "OMIM:612161" -MONDO:0016483 "ICD10:I60.7" MONDO:0016483 "OMIM:609122" MONDO:0016483 "OMIM:612586" MONDO:0016483 "OMIM:105800" MONDO:0016483 "OMIM:614252" -MONDO:0016483 "ICD10:I67.1" MONDO:0016483 "OMIM:612587" MONDO:0016483 "OMIMPS:105800" MONDO:0016483 "DOID:0060228" @@ -33653,11 +32859,9 @@ MONDO:0016483 "OMIM:300870" MONDO:0016483 "OMIM:611892" MONDO:0016483 "UMLS:CN230268" MONDO:0016483 "OMIM:612162" -MONDO:0003598 "ICD10:G56.10" MONDO:0003598 "DOID:571" MONDO:0003598 "SCTID:397828008" MONDO:0003598 "ICD9:354.1" -MONDO:0003598 "ICD10:G56.1" MONDO:0003598 "MESH:D020423" MONDO:0004550 "NCIT:C4553" MONDO:0004550 "UMLS:C0346367" @@ -33670,14 +32874,14 @@ MONDO:0012305 "UMLS:C1835966" MONDO:0012305 "MESH:C563695" MONDO:0012305 "OMIM:609573" MONDO:0012305 "Orphanet:166409" -MONDO:0013863 "ICD10:D81.8" MONDO:0013863 "UMLS:C3553512" MONDO:0013863 "Orphanet:1572" MONDO:0013863 "Orphanet:445018" MONDO:0013863 "OMIM:614700" -MONDO:0019000 "ICD10:G54.8" +MONDO:0013863 "ICD10CM:D81.8" MONDO:0019000 "Orphanet:65250" MONDO:0019000 "GARD:0009258" +MONDO:0019000 "ICD10CM:G54.8" MONDO:0019000 "EFO:1001858" MONDO:0019000 "MESH:D052958" MONDO:0019000 "SCTID:81634008" @@ -33690,21 +32894,20 @@ MONDO:0020249 "MedDRA:10061323" MONDO:0020249 "Orphanet:98671" MONDO:0004678 "ICD9:110.9" MONDO:0004678 "ICD9:110" -MONDO:0004678 "NCIT:C26745" MONDO:0004678 "DOID:8913" +MONDO:0004678 "NCIT:C26745" +MONDO:0004678 "ICD10CM:B35" MONDO:0004678 "SCTID:47382004" MONDO:0004678 "UMLS:C0011636" MONDO:0004678 "ICD9:110.8" -MONDO:0004678 "ICD10:B35.9" -MONDO:0004678 "ICD10:B35" MONDO:0032881 "OMIM:618723" MONDO:0005624 "UMLS:C0238183" MONDO:0005624 "EFO:0006813" MONDO:0005624 "SCTID:83664006" +MONDO:0015471 "ICD10CM:G40.8" MONDO:0015471 "SCTID:715425000" MONDO:0015471 "Orphanet:1544" MONDO:0015471 "UMLS:C4275141" -MONDO:0015471 "ICD10:G40.8" MONDO:0020026 "UMLS:CN227737" MONDO:0020026 "Orphanet:98049" MONDO:0001028 "ICD9:523.3" @@ -33729,26 +32932,25 @@ HP:0001396 "SNOMEDCT_US:197446008" HP:0001396 "UMLS:C0008370" HP:0001396 "SNOMEDCT_US:30144000" HP:0001396 "MSH:D002779" +MONDO:0019499 "ICD10CM:Q96.1" +MONDO:0019499 "ICD10CM:Q96.3" MONDO:0019499 "UMLS:C0041408" MONDO:0019499 "GARD:0007831" MONDO:0019499 "NCIT:C26900" -MONDO:0019499 "ICD10:Q96.1" -MONDO:0019499 "ICD10:Q96.2" MONDO:0019499 "MESH:D014424" +MONDO:0019499 "ICD10CM:Q96.9" +MONDO:0019499 "ICD10CM:Q96.0" +MONDO:0019499 "ICD10CM:Q96.4" MONDO:0019499 "SCTID:38804009" MONDO:0019499 "GARD:0002459" MONDO:0019499 "MedDRA:10045181" -MONDO:0019499 "ICD10:Q96.9" -MONDO:0019499 "ICD10:Q96.0" MONDO:0019499 "Orphanet:881" -MONDO:0019499 "ICD10:Q96" MONDO:0019499 "ICD9:758.7" -MONDO:0019499 "ICD10:Q96.4" +MONDO:0019499 "ICD10CM:Q96.8" MONDO:0019499 "GARD:0002458" MONDO:0019499 "GARD:0002540" -MONDO:0019499 "ICD10:Q96.8" +MONDO:0019499 "ICD10CM:Q96.2" MONDO:0019499 "DOID:3491" -MONDO:0019499 "ICD10:Q96.3" MONDO:0044222 "OMIM:111400" MONDO:0000466 "DOID:0050821" MONDO:0000466 "NCIT:C62015" @@ -33764,18 +32966,18 @@ MONDO:0006369 "UMLS:C1367859" MONDO:0006369 "DOID:5030" MONDO:0016192 "Orphanet:209056" MONDO:0018161 "Orphanet:357034" +MONDO:0018161 "ICD10CM:C69.2" MONDO:0018161 "UMLS:CN204600" -MONDO:0018161 "ICD10:C69.2" +MONDO:0009179 "DOID:0060642" +MONDO:0009179 "Orphanet:79408" +MONDO:0009179 "ICD10CM:Q81.2" +MONDO:0009179 "SCTID:48528004" MONDO:0009179 "ICD9:757.39" MONDO:0009179 "OMIM:226600" MONDO:0009179 "Orphanet:79409" -MONDO:0009179 "DOID:0060642" -MONDO:0009179 "SCTID:48528004" MONDO:0009179 "GARD:0006308" -MONDO:0009179 "Orphanet:79408" -MONDO:0009179 "ICD10:Q81.2" MONDO:0015775 "Orphanet:176" -MONDO:0015775 "ICD10:Q77.3" +MONDO:0015775 "ICD10CM:Q77.3" MONDO:0005282 "MESH:D008178" MONDO:0005282 "NCIT:C26819" MONDO:0005282 "GARD:0006225" @@ -33788,17 +32990,17 @@ MONDO:0009569 "UMLS:CN201032" MONDO:0009569 "GARD:0003409" MONDO:0009569 "MESH:C536033" MONDO:0009569 "OMIM:248910" -MONDO:0009569 "ICD10:Q82.2" +MONDO:0009569 "ICD10CM:Q82.2" MONDO:0009569 "SCTID:722453009" MONDO:0008799 "GARD:0001443" MONDO:0008799 "ICD9:758.5" MONDO:0008799 "OMIM:206900" MONDO:0008799 "SCTID:698851003" -MONDO:0008799 "ICD10:Q87.8" +MONDO:0008799 "ICD10CM:Q87.8" MONDO:0008799 "Orphanet:77298" +MONDO:0009745 "ICD10CM:E75.4" MONDO:0009745 "MESH:C575534" MONDO:0009745 "OMIM:256731" -MONDO:0009745 "ICD10:E75.4" MONDO:0009745 "GARD:0001223" MONDO:0009745 "DOID:0110728" MONDO:0009745 "Orphanet:228360" @@ -33808,6 +33010,7 @@ MONDO:0020341 "OMIMPS:300049" MONDO:0020341 "UMLS:C1868720" MONDO:0020341 "OMIM:608098" MONDO:0020341 "OMIM:615544" +MONDO:0020341 "ICD10CM:Q04.8" MONDO:0020341 "GARD:0012724" MONDO:0020341 "SCTID:448227009" MONDO:0020341 "OMIM:608097" @@ -33816,12 +33019,11 @@ MONDO:0020341 "MESH:D054091" MONDO:0020341 "OMIM:300049" MONDO:0020341 "OMIM:612881" MONDO:0020341 "OMIM:617201" -MONDO:0020341 "ICD10:Q04.8" MONDO:0020341 "DOID:0050454" +MONDO:0007311 "ICD10CM:G60.0" MONDO:0007311 "GARD:0009190" MONDO:0007311 "OMIM:118300" MONDO:0007311 "Orphanet:90658" -MONDO:0007311 "ICD10:G60.0" MONDO:0007311 "UMLS:C2931686" MONDO:0007311 "MESH:C537986" MONDO:0007311 "DOID:0110153" @@ -33832,8 +33034,8 @@ MONDO:0002469 "DOID:296" MONDO:0001699 "ICD9:110.2" MONDO:0001699 "SCTID:48971001" MONDO:0001699 "UMLS:C0153246" -MONDO:0001699 "ICD10:B35.2" MONDO:0001699 "DOID:13369" +MONDO:0001699 "ICD10CM:B35.2" MONDO:0002645 "UMLS:C0742115" MONDO:0002645 "NCIT:C27199" MONDO:0002645 "DOID:3431" @@ -33841,10 +33043,10 @@ MONDO:0020718 "OMIM:615237" MONDO:0020718 "Orphanet:2301" MONDO:0020718 "UMLS:C0021847" MONDO:0022643 "GARD:0005996" +MONDO:0010534 "ICD10CM:G11.1" MONDO:0010534 "GARD:0009980" MONDO:0010534 "OMIM:301840" MONDO:0010534 "Orphanet:85292" -MONDO:0010534 "ICD10:G11.1" MONDO:0010534 "SCTID:719818007" MONDO:0010534 "UMLS:C1844933" MONDO:0010534 "MESH:C537316" @@ -33868,7 +33070,6 @@ MONDO:0009366 "Orphanet:314928" MONDO:0009366 "ICD9:331.5" MONDO:0009366 "SCTID:30753002" MONDO:0009366 "UMLS:C0020258" -MONDO:0009366 "ICD10:G91.2" MONDO:0009366 "MESH:D006850" MONDO:0009366 "MedDRA:10029773" MONDO:0030024 "OMIM:618859" @@ -33891,10 +33092,10 @@ MONDO:0042494 "NCIT:C131506" MONDO:0042494 "GARD:0000091" MONDO:0008043 "UMLS:C1834579" MONDO:0008043 "MESH:C563549" -MONDO:0008043 "ICD10:G11.1" MONDO:0008043 "GARD:0003873" MONDO:0008043 "OMIM:159800" MONDO:0008043 "Orphanet:2589" +MONDO:0008043 "ICD10CM:G11.1" MONDO:0013037 "MESH:C567864" MONDO:0013037 "UMLS:C2752043" MONDO:0013037 "OMIM:612917" @@ -33904,9 +33105,9 @@ HP:0000360 "SNOMEDCT_US:60862001" HP:0000360 "SNOMEDCT_US:162349004" HP:0000360 "MSH:D014012" MONDO:0003542 "DOID:5608" -MONDO:0003542 "ICD10:K04.2" MONDO:0003542 "UMLS:C0011401" MONDO:0003542 "SCTID:57602001" +MONDO:0003542 "ICD10CM:K04.2" MONDO:0003542 "MESH:D003784" MONDO:0007829 "OMIM:147480" MONDO:0007829 "UMLS:C3549845" @@ -33914,10 +33115,10 @@ MONDO:0007829 "Orphanet:69665" MONDO:0007829 "DOID:0070228" MONDO:0032660 "OMIM:618291" MONDO:0032660 "DOID:0070350" -MONDO:0011255 "ICD10:Q87.0" MONDO:0011255 "UMLS:C1865181" MONDO:0011255 "Orphanet:357158" MONDO:0011255 "MESH:C566520" +MONDO:0011255 "ICD10CM:Q87.0" MONDO:0011255 "OMIM:602562" MONDO:0014478 "Orphanet:238722" MONDO:0014478 "UMLS:C4015124" @@ -33925,7 +33126,6 @@ MONDO:0014478 "OMIM:616059" MONDO:0010040 "OMIM:270500" MONDO:0010040 "UMLS:C3151619" MONDO:0001174 "DOID:10989" -MONDO:0001174 "ICD10:H11.41" MONDO:0001174 "NCIT:C35116" MONDO:0001174 "ICD9:372.74" MONDO:0001174 "SCTID:74100001" @@ -33937,9 +33137,9 @@ MONDO:0044001 "UMLS:C0155552" MONDO:0015207 "Orphanet:108959" MONDO:0012307 "OMIM:609579" MONDO:0012307 "MESH:C566511" -MONDO:0012307 "ICD10:Q87.0" MONDO:0012307 "Orphanet:168624" MONDO:0012307 "UMLS:C1865070" +MONDO:0012307 "ICD10CM:Q87.0" MONDO:0012696 "MESH:C566914" MONDO:0012696 "UMLS:C1969046" MONDO:0012696 "OMIM:611571" @@ -33954,7 +33154,7 @@ MONDO:0013642 "Orphanet:2162" MONDO:0030089 "OMIM:618858" MONDO:0015809 "MESH:D056267" MONDO:0015809 "Orphanet:178517" -MONDO:0015809 "ICD10:C84.0" +MONDO:0015809 "ICD10CM:C84.0" MONDO:0015809 "UMLS:C1276140" MONDO:0015809 "SCTID:404120006" MONDO:0015809 "NCIT:C35794" @@ -33976,11 +33176,11 @@ MONDO:0033309 "DOID:0080278" MONDO:0033309 "UMLS:CN596207" MONDO:0033309 "OMIM:617757" MONDO:0019328 "GARD:0006010" -MONDO:0019328 "ICD10:D18.1" MONDO:0019328 "Orphanet:79489" +MONDO:0019328 "ICD10CM:D18.1" MONDO:0019328 "NCIT:C53316" MONDO:0018011 "SCTID:766252004" -MONDO:0018011 "ICD10:M33.0" +MONDO:0018011 "ICD10CM:M33.0" MONDO:0018011 "Orphanet:329894" MONDO:0005132 "SCTID:28944009" MONDO:0005132 "NCIT:C112314" @@ -33995,17 +33195,17 @@ MONDO:0010126 "UMLS:C1848815" HP:0002624 "UMLS:C0241665" MONDO:0015073 "UMLS:C3273116" MONDO:0015073 "Orphanet:100086" +MONDO:0015073 "ICD10CM:C23" MONDO:0015073 "UMLS:CN197366" -MONDO:0015073 "ICD10:C23" MONDO:0015073 "NCIT:C96918" MONDO:0019664 "SCTID:254051008" MONDO:0019664 "OMIM:613091" -MONDO:0019664 "MESH:C537602" MONDO:0019664 "OMIM:614091" +MONDO:0019664 "MESH:C537602" MONDO:0019664 "OMIM:615633" -MONDO:0019664 "ICD10:Q77.2" MONDO:0019664 "GARD:0004835" MONDO:0019664 "UMLS:C0432197" +MONDO:0019664 "ICD10CM:Q77.2" MONDO:0019664 "Orphanet:93271" MONDO:0019664 "ICD9:759.89" MONDO:0019664 "OMIM:615503" @@ -34014,9 +33214,9 @@ MONDO:0014998 "OMIM:617272" MONDO:0018467 "Orphanet:411629" MONDO:0018467 "OMIM:219800" MONDO:0018467 "UMLS:C0010690" +MONDO:0018467 "ICD10EXP:E72.0+" MONDO:0018467 "Orphanet:213" -MONDO:0018467 "ICD10:E72.0+" -MONDO:0018467 "ICD10:N16.3*" +MONDO:0018467 "ICD10EXP:N16.3*" MONDO:0000631 "SCTID:92027006" MONDO:0000631 "DOID:0060094" MONDO:0000631 "NCIT:C4880" @@ -34025,12 +33225,12 @@ MONDO:0010536 "OMIM:301850" MONDO:0006534 "DOID:14443" MONDO:0006534 "Wikipedia:Cholinergic_urticaria" MONDO:0006534 "ICD9:708.5" -MONDO:0006534 "ICD10:L50.5" MONDO:0006534 "EFO:1000679" +MONDO:0006534 "ICD10CM:L50.5" MONDO:0006534 "SCTID:73098005" MONDO:0006534 "UMLS:C0152230" MONDO:0017252 "Orphanet:280854" -MONDO:0017252 "ICD10:Q33.0" +MONDO:0017252 "ICD10CM:Q33.0" MONDO:0015940 "Orphanet:182231" MONDO:0015940 "UMLS:CN200530" NCBITaxon:1236 "GC_ID:11" @@ -34044,10 +33244,10 @@ MONDO:0009910 "UMLS:C0406586" MONDO:0009910 "GARD:0000330" MONDO:0009910 "SCTID:238874008" MONDO:0009910 "NCIT:C121565" -MONDO:0009910 "ICD10:E34.8" MONDO:0009910 "OMIM:264090" MONDO:0009910 "Orphanet:3455" MONDO:0009910 "MESH:C536423" +MONDO:0009910 "ICD10CM:E34.8" MONDO:0009910 "ICD9:259.8" MONDO:0002810 "NCIT:C41248" MONDO:0002810 "DOID:3919" @@ -34056,7 +33256,6 @@ MONDO:0021046 "NCIT:C40405" MONDO:0021046 "ONCOTREE:BFN" MONDO:0021046 "UMLS:C1511309" MONDO:0007608 "GARD:0001820" -MONDO:0007608 "ICD10:D48.1" MONDO:0007608 "UMLS:CN072436" MONDO:0007608 "ICDO:8821/1" MONDO:0007608 "DOID:0080366" @@ -34066,9 +33265,10 @@ MONDO:0007608 "NCIT:C9182" MONDO:0007608 "ONCOTREE:DES" MONDO:0007608 "UMLS:C0079218" MONDO:0007608 "OMIM:135290" +MONDO:0007608 "ICD10CM:D48.1" MONDO:0017455 "SCTID:763535005" MONDO:0017455 "Orphanet:295002" -MONDO:0017455 "ICD10:Q74.8" +MONDO:0017455 "ICD10CM:Q74.8" MONDO:0015294 "MESH:D054989" MONDO:0015294 "MedDRA:10067467" MONDO:0015294 "SCTID:424114000" @@ -34091,10 +33291,8 @@ MONDO:0007975 "MESH:C563590" MONDO:0012171 "MESH:C563814" MONDO:0012171 "OMIM:609008" MONDO:0012171 "UMLS:C1836994" -MONDO:0002164 "ICD10:H30.00" MONDO:0002164 "ICD9:363.00" MONDO:0002164 "UMLS:C0154870" -MONDO:0002164 "ICD10:H30.0" MONDO:0002164 "DOID:1979" MONDO:0002164 "ICD9:363.0" MONDO:0002164 "SCTID:15847003" @@ -34105,14 +33303,14 @@ MONDO:0021915 "MESH:C537426" HP:0000853 "UMLS:C0018021" HP:0000853 "SNOMEDCT_US:3716002" HP:0000853 "MSH:D006042" +MONDO:0016522 "ICD10CM:Q87.8" MONDO:0016522 "SCTID:726083008" MONDO:0016522 "UMLS:C2931444" MONDO:0016522 "GARD:0004752" -MONDO:0016522 "ICD10:Q87.8" MONDO:0016522 "Orphanet:2351" MONDO:0016522 "MESH:C537223" MONDO:0020185 "Orphanet:98595" -MONDO:0020185 "ICD10:L68.2" +MONDO:0020185 "ICD10CM:L68.2" MONDO:0010296 "GARD:0010007" MONDO:0010296 "Orphanet:47" MONDO:0010296 "MESH:C538057" @@ -34121,22 +33319,21 @@ MONDO:0010296 "Orphanet:229717" MONDO:0010296 "OMIM:300310" HP:0010765 "UMLS:C4023710" MONDO:0022448 "GARD:0000660" -MONDO:0017759 "Orphanet:309830" -MONDO:0017759 "ICD9:270.8" -MONDO:0017759 "UMLS:C0342685" -MONDO:0017759 "SCTID:237921002" MONDO:0001363 "UMLS:C0154789" MONDO:0001363 "DOID:11776" MONDO:0001363 "ICD9:360.42" MONDO:0001363 "SCTID:264008" +MONDO:0017759 "Orphanet:309830" +MONDO:0017759 "ICD9:270.8" +MONDO:0017759 "UMLS:C0342685" +MONDO:0017759 "SCTID:237921002" MONDO:0016696 "OMIM:616568" MONDO:0016696 "ONCOTREE:AODG" MONDO:0016696 "MedDRA:10026659" -MONDO:0016696 "ICD10:C79.1" +MONDO:0016696 "ICD10CM:C79.1" MONDO:0016696 "ICDO:9451/3" MONDO:0016696 "OMIM:137800" MONDO:0016696 "NCIT:C4326" -MONDO:0016696 "ICD10:C71.9" MONDO:0016696 "UMLS:C0334590" MONDO:0016696 "Orphanet:251630" MONDO:0016696 "GARD:0009472" @@ -34144,10 +33341,10 @@ MONDO:0016696 "EFO:0002501" MONDO:0023561 "GARD:0003131" MONDO:0023561 "MESH:C537023" MONDO:0023561 "UMLS:C2931397" -MONDO:0018896 "ICD10:M31.1" MONDO:0018896 "MESH:D011697" MONDO:0018896 "DOID:10772" MONDO:0018896 "SCTID:78129009" +MONDO:0018896 "ICD10CM:M31.1" MONDO:0018896 "MedDRA:10043648" MONDO:0018896 "NCIT:C78797" MONDO:0018896 "UMLS:C0034155" @@ -34160,13 +33357,13 @@ MONDO:0012299 "Orphanet:35612" MONDO:0018701 "Orphanet:457074" NCBITaxon:138951 "GC_ID:1" MONDO:0001928 "SCTID:69850007" -MONDO:0001928 "ICD10:K83.0" MONDO:0001928 "DOID:14269" MONDO:0001928 "NCIT:C35336" +MONDO:0001928 "ICD10CM:K83.0" MONDO:0001928 "UMLS:C0267924" MONDO:0020372 "Orphanet:98985" +MONDO:0020372 "ICD10CM:Q12.0" MONDO:0020372 "OMIM:605728" -MONDO:0020372 "ICD10:Q12.0" MONDO:0000351 "HP:0003235" MONDO:0000351 "UMLS:C4048705" MONDO:0000351 "DOID:0050544" @@ -34181,9 +33378,9 @@ MONDO:0009240 "GARD:0009279" MONDO:0009240 "DOID:0111679" MONDO:0009240 "UMLS:C0268609" MONDO:0009240 "SCTID:59761008" +MONDO:0009240 "ICD10CM:E70.8" MONDO:0009240 "MESH:C537425" MONDO:0009240 "ICD9:270.8" -MONDO:0009240 "ICD10:E70.8" MONDO:0009240 "OMIM:229100" MONDO:0009240 "Orphanet:51208" MONDO:0006122 "EFO:1000149" @@ -34192,7 +33389,7 @@ MONDO:0006122 "NCIT:C96830" MONDO:0006122 "UMLS:C3273067" MONDO:0011116 "UMLS:C0265780" MONDO:0011116 "SCTID:721976003" -MONDO:0011116 "ICD10:Q87.8" +MONDO:0011116 "ICD10CM:Q87.8" MONDO:0011116 "OMIM:601612" MONDO:0011116 "Orphanet:1120" MONDO:0011116 "GARD:0003378" @@ -34202,7 +33399,7 @@ MONDO:0010714 "UMLS:C0205711" MONDO:0010714 "OMIM:312080" MONDO:0010714 "Orphanet:702" MONDO:0010714 "OMIM:213900" -MONDO:0010714 "ICD10:E75.2" +MONDO:0010714 "ICD10CM:E75.2" MONDO:0010714 "MESH:D020371" MONDO:0010714 "SCTID:64855000" MONDO:0010714 "GARD:0004265" @@ -34217,7 +33414,6 @@ MONDO:0024493 "UMLS:C0475271" MONDO:0001792 "ICD9:375.22" MONDO:0001792 "DOID:13756" MONDO:0001792 "UMLS:C0155234" -MONDO:0001792 "ICD10:H04.22" MONDO:0001792 "SCTID:85042000" MONDO:0007695 "OMIM:139650" MONDO:0007695 "GARD:0008461" @@ -34227,8 +33423,8 @@ MONDO:0042486 "DOID:0111685" MONDO:0042486 "OMIM:601228" MONDO:0001621 "DOID:13036" MONDO:0001621 "NCIT:C34976" -MONDO:0001621 "ICD10:A68.1" MONDO:0001621 "SCTID:10301003" +MONDO:0001621 "ICD10CM:A68.1" MONDO:0001621 "UMLS:C0035022" MONDO:0001621 "ICD9:087.1" MONDO:0007524 "Orphanet:286" @@ -34238,10 +33434,10 @@ MONDO:0013090 "UMLS:C4304577" MONDO:0013090 "GARD:0010592" MONDO:0013090 "UMLS:C2751651" MONDO:0013090 "MESH:C567810" -MONDO:0013090 "ICD10:Q93.5" MONDO:0013090 "OMIM:613026" MONDO:0013090 "SCTID:719599008" MONDO:0013090 "Orphanet:217346" +MONDO:0013090 "ICD10CM:Q93.5" MONDO:0013090 "DOID:0060408" MONDO:0020593 "ICDO:8100/0" MONDO:0020593 "NCIT:C27132" @@ -34260,8 +33456,8 @@ MONDO:0019514 "Orphanet:890" MONDO:0019514 "MESH:D006504" MONDO:0019514 "SCTID:65617004" MONDO:0019514 "DOID:0080177" -MONDO:0019514 "ICD10:K76.5" MONDO:0019514 "UMLS:C0019156" +MONDO:0019514 "ICD10CM:K76.5" MONDO:0004093 "NCIT:C7032" MONDO:0004093 "DOID:7051" MONDO:0004093 "UMLS:C1333443" @@ -34275,19 +33471,19 @@ MONDO:0018317 "Orphanet:391366" MONDO:0007407 "UMLS:C0340992" MONDO:0007407 "UMLS:C0272258" MONDO:0007407 "OMIM:123550" -MONDO:0007407 "ICD10:D89.1" MONDO:0007407 "ICD9:273.2" MONDO:0007407 "SCTID:190815001" +MONDO:0007407 "ICD10CM:D89.1" MONDO:0007407 "MESH:C565141" MONDO:0007407 "UMLS:C1852456" MONDO:0007407 "MedDRA:10027756" MONDO:0007407 "GARD:0006386" MONDO:0007407 "Orphanet:91138" MONDO:0007407 "UMLS:C0343208" +MONDO:0008111 "ICD10CM:Q87.8" MONDO:0008111 "OMIM:257850" MONDO:0008111 "ICD9:759.89" MONDO:0008111 "DOID:0060291" -MONDO:0008111 "ICD10:Q87.8" MONDO:0008111 "Orphanet:2710" MONDO:0008111 "SCTID:38215007" MONDO:0008111 "OMIM:164200" @@ -34295,7 +33491,6 @@ MONDO:0008111 "MedDRA:10063691" MONDO:0008111 "GARD:0007239" MONDO:0008111 "MESH:C563160" MONDO:0012024 "UMLS:C1842127" -MONDO:0012024 "ICD10:H35.5" MONDO:0012024 "OMIM:608380" MONDO:0012024 "DOID:0110368" MONDO:0012024 "GARD:0010397" @@ -34311,8 +33506,8 @@ MONDO:0021518 "UMLS:C0345552" MONDO:0021518 "ICD9:210.4" MONDO:0021518 "NCIT:C4403" MONDO:0013161 "OMIM:613157" +MONDO:0013161 "ICD10CM:G71.0" MONDO:0013161 "UMLS:C3150417" -MONDO:0013161 "ICD10:G71.0" MONDO:0013161 "GARD:0012540" MONDO:0013161 "Orphanet:206564" MONDO:0013161 "DOID:0110292" @@ -34323,7 +33518,6 @@ HP:0005508 "UMLS:C0024419" HP:0005508 "SNOMEDCT_US:35562000" MONDO:0011286 "OMIM:603098" MONDO:0011286 "MESH:C566410" -MONDO:0011286 "ICD10:H90.3" MONDO:0011286 "UMLS:C1864199" MONDO:0011286 "DOID:0110468" MONDO:0044714 "Orphanet:502423" @@ -34331,7 +33525,6 @@ MONDO:0044714 "UMLS:CN484737" MONDO:0044714 "OMIM:617675" MONDO:0012360 "MESH:C567935" MONDO:0012360 "UMLS:C2940785" -MONDO:0012360 "ICD10:E03.1" MONDO:0012360 "OMIM:609893" MONDO:0012360 "DOID:0070127" MONDO:0012360 "Orphanet:97927" @@ -34341,16 +33534,16 @@ MONDO:0019701 "OMIM:215105" MONDO:0019701 "SCTID:360507004" MONDO:0019701 "NCIT:C84632" MONDO:0019701 "GARD:0008542" +MONDO:0019701 "ICD10CM:Q77.3" MONDO:0019701 "Orphanet:93442" MONDO:0019701 "UMLS:C0008445" -MONDO:0019701 "ICD10:Q77.3" MONDO:0019701 "ICD9:756.59" MONDO:0024551 "Orphanet:538931" MONDO:0024551 "Orphanet:2442" MONDO:0024551 "OMIM:308240" MONDO:0024551 "UMLS:C0549463" MONDO:0008439 "GARD:0004915" -MONDO:0008439 "ICD10:G11.4" +MONDO:0008439 "ICD10CM:G11.4" MONDO:0008439 "Orphanet:2816" MONDO:0008439 "MESH:C536869" MONDO:0008439 "OMIM:182610" @@ -34359,7 +33552,7 @@ MONDO:0005796 "UMLS:C0282616" MONDO:0005796 "EFO:0007311" MONDO:0005796 "MESH:D019053" MONDO:0009513 "UMLS:C1328355" -MONDO:0009513 "ICD10:Q81.8" +MONDO:0009513 "ICD10CM:Q81.8" MONDO:0009513 "OMIM:245660" MONDO:0009513 "SCTID:722675000" MONDO:0009513 "GARD:0000368" @@ -34378,7 +33571,7 @@ HP:0002143 "UMLS:C4025722" HP:0002143 "SNOMEDCT_US:48522003" HP:0002143 "UMLS:C0037928" HP:0002143 "MSH:D013118" -MONDO:0019829 "ICD10:Q26.9" +MONDO:0019829 "ICD10CM:Q26.9" MONDO:0019829 "ICD9:747.49" MONDO:0019829 "SCTID:70195006" MONDO:0019829 "Orphanet:95498" @@ -34388,31 +33581,29 @@ MONDO:0003681 "ICDO:9231/3" MONDO:0003681 "NCIT:C4303" MONDO:0003681 "ONCOTREE:MYCHS" MONDO:0001213 "ICD9:381.1" -MONDO:0001213 "ICD10:H65.2" MONDO:0001213 "DOID:11181" -MONDO:0001213 "ICD10:H65.20" MONDO:0001213 "SCTID:81564005" MONDO:0001213 "ICD9:381.10" MONDO:0001213 "UMLS:C0155421" MONDO:0001213 "ICD9:381.19" +MONDO:0021211 "NCIT:C2907" HP:0030718 "Fyler:2859" HP:0030718 "UMLS:C0748427" HP:0030718 "SNOMEDCT_US:67751000119106" HP:0030718 "Fyler:1771" MONDO:0009043 "OMIM:188570" MONDO:0009043 "OMIM:274300" -MONDO:0009043 "ICD10:E07.8" +MONDO:0009043 "ICD10CM:E07.8" MONDO:0009043 "Orphanet:3221" -MONDO:0021211 "NCIT:C2907" MONDO:0017057 "OMIM:273900" MONDO:0017057 "UMLS:CN227073" MONDO:0017057 "Orphanet:268322" MONDO:0017057 "OMIM:188000" -MONDO:0017057 "ICD10:D69.4" MONDO:0017057 "OMIM:313900" MONDO:0017057 "OMIM:612004" +MONDO:0017057 "ICD10CM:D69.4" MONDO:0015745 "UMLS:CN200295" -MONDO:0015745 "ICD10:Q04.3" +MONDO:0015745 "ICD10CM:Q04.3" MONDO:0015745 "Orphanet:171703" MONDO:0018170 "NCIT:C122796" MONDO:0018170 "Orphanet:357502" @@ -34421,9 +33612,9 @@ MONDO:0009492 "OMIM:245050" MONDO:0009492 "SCTID:238004006" MONDO:0009492 "Orphanet:832" MONDO:0009492 "ICD9:270.8" -MONDO:0009492 "ICD10:E71.3" MONDO:0009492 "MESH:C537527" MONDO:0009492 "GARD:0004774" +MONDO:0009492 "ICD10CM:E71.3" MONDO:0002615 "SCTID:63103006" MONDO:0002615 "UMLS:C0043325" MONDO:0002615 "HP:0000991" @@ -34432,9 +33623,9 @@ MONDO:0007127 "MESH:D004057" MONDO:0007127 "EFO:0007236" MONDO:0007127 "UMLS:C0020498" MONDO:0007127 "ICD9:721.6" +MONDO:0007127 "ICD10CM:M48.1" MONDO:0007127 "NCIT:C84671" MONDO:0007127 "Orphanet:2206" -MONDO:0007127 "ICD10:M48.1" MONDO:0007127 "DOID:6652" MONDO:0007127 "SCTID:31487001" MONDO:0007127 "GARD:0000842" @@ -34445,58 +33636,56 @@ MONDO:0017924 "UMLS:CN204056" MONDO:0017924 "Orphanet:3240" MONDO:0024813 "NCIT:C27710" MONDO:0015099 "Orphanet:101071" -MONDO:0015099 "ICD10:Q04.3" +MONDO:0015099 "ICD10CM:Q04.3" +MONDO:0018498 "ICD10CM:Q20.1" MONDO:0018498 "Orphanet:423693" -MONDO:0018498 "ICD10:Q20.1" MONDO:0019031 "UMLS:C4302508" MONDO:0019031 "OMIM:300367" +MONDO:0019031 "ICD10CM:D69.4" MONDO:0019031 "Orphanet:67044" -MONDO:0019031 "ICD10:D69.4" MONDO:0019031 "SCTID:722475006" MONDO:0030033 "OMIM:618875" MONDO:0017278 "UMLS:C4316913" +MONDO:0017278 "ICD10CM:E31.0" MONDO:0017278 "NCIT:C84576" MONDO:0017278 "DOID:14040" MONDO:0017278 "NCIT:C129726" MONDO:0017278 "ICD9:258.8" -MONDO:0017278 "ICD10:E31.0" MONDO:0017278 "UMLS:C0085409" MONDO:0017278 "SCTID:41864002" MONDO:0017278 "Orphanet:282196" -MONDO:0005345 "ICD10:Q54.9" -MONDO:0005345 "ICD10:Q54.3" MONDO:0005345 "UMLS:C0848558" +MONDO:0005345 "ICD10CM:Q54.8" MONDO:0005345 "NCIT:C40341" MONDO:0005345 "OMIM:146450" -MONDO:0005345 "ICD10:Q54" +MONDO:0005345 "ICD10CM:Q54.2" MONDO:0005345 "Orphanet:440" +MONDO:0005345 "ICD10CM:Q54.9" MONDO:0005345 "MESH:D007021" MONDO:0005345 "SCTID:416010008" MONDO:0005345 "ICD9:752.61" MONDO:0005345 "OMIM:300758" -MONDO:0005345 "ICD10:Q54.0" +MONDO:0005345 "ICD10CM:Q54.0" MONDO:0005345 "HP:0000047" MONDO:0005345 "UMLS:CN205090" -MONDO:0005345 "ICD10:Q54.8" -MONDO:0005345 "ICD10:Q54.2" +MONDO:0005345 "ICD10CM:Q54.1" +MONDO:0005345 "ICD10CM:Q54.4" MONDO:0005345 "DOID:10892" -MONDO:0005345 "ICD10:Q54.4" +MONDO:0005345 "ICD10CM:Q54.3" MONDO:0005345 "OMIM:300856" MONDO:0005345 "OMIMPS:300633" MONDO:0005345 "OMIM:300633" -MONDO:0005345 "ICD10:Q54.1" MONDO:0005345 "GARD:0002929" MONDO:0005345 "EFO:0004209" +MONDO:0016912 "ICD10CM:Q93.5" MONDO:0016912 "Orphanet:262110" MONDO:0016912 "GARD:0003722" -MONDO:0016912 "ICD10:Q93.5" MONDO:0014155 "UMLS:C3809311" MONDO:0014155 "Orphanet:334" MONDO:0014155 "OMIM:615377" MONDO:0009101 "OMIM:222300" MONDO:0009101 "DOID:0110629" MONDO:0009101 "Orphanet:3463" -MONDO:0009101 "ICD10:E13.8" MONDO:0009101 "UMLS:C0043207" HP:0011276 "UMLS:C0162819" HP:0011276 "SNOMEDCT_US:11263005" @@ -34520,39 +33709,36 @@ MONDO:0010964 "UMLS:C1832998" MONDO:0010964 "DOID:0070304" NCBITaxon:2845253 "GC_ID:11" MONDO:0016138 "Orphanet:207046" -MONDO:0004600 "ICD10:C93.Z0" MONDO:0004600 "ICD9:206.80" MONDO:0004600 "ICD9:206.91" MONDO:0004600 "ICD9:206.81" MONDO:0004600 "DOID:8527" MONDO:0004600 "SCTID:188744006" MONDO:0004600 "ICD9:206.8" -MONDO:0004600 "ICD10:C93.Z" MONDO:0004600 "ICD9:206.90" MONDO:0006786 "EFO:1000966" -MONDO:0006786 "ICD10:I82.0" MONDO:0006786 "SCTID:38739001" MONDO:0006786 "ICD9:453.0" MONDO:0006786 "MedDRA:10019713" MONDO:0006786 "MedDRA:10006537" MONDO:0006786 "DOID:11512" MONDO:0007860 "OMIM:148730" +MONDO:0007860 "ICD10CM:Q82.8" MONDO:0007860 "MESH:C536157" MONDO:0007860 "GARD:0003098" MONDO:0007860 "UMLS:C1835650" MONDO:0007860 "Orphanet:2200" -MONDO:0007860 "ICD10:Q82.8" MONDO:0007860 "SCTID:764963007" MONDO:0013396 "DOID:0060409" +MONDO:0013396 "ICD10CM:Q93.5" MONDO:0013396 "UMLS:CN226149" MONDO:0013396 "OMIM:613735" MONDO:0013396 "SCTID:766766005" -MONDO:0013396 "ICD10:Q93.5" MONDO:0013396 "UMLS:C3151036" MONDO:0013396 "Orphanet:401986" MONDO:0032630 "OMIM:618247" MONDO:0010181 "Orphanet:1876" -MONDO:0010181 "ICD10:G71.0" +MONDO:0010181 "ICD10CM:G71.0" MONDO:0010181 "SCTID:722060007" MONDO:0010181 "OMIM:277320" MONDO:0010181 "GARD:0005496" @@ -34564,11 +33750,11 @@ MONDO:0010010 "OMIM:269150" MONDO:0010010 "MESH:C536632" MONDO:0010010 "GARD:0000117" MONDO:0010010 "SCTID:18899000" -MONDO:0010010 "ICD10:Q87.0" MONDO:0010010 "NCIT:C129308" +MONDO:0010010 "ICD10CM:Q87.0" MONDO:0013233 "UMLS:C3150545" MONDO:0013233 "OMIM:613343" -MONDO:0013233 "ICD10:Q77.7" +MONDO:0013233 "ICD10CM:Q77.7" MONDO:0013233 "Orphanet:99642" MONDO:0014791 "UMLS:C4085873" MONDO:0014791 "OMIM:616831" @@ -34577,15 +33763,15 @@ MONDO:0012210 "OMIM:609179" MONDO:0025690 "OMIM:619278" MONDO:0015379 "Orphanet:141046" MONDO:0015379 "SCTID:763129001" -MONDO:0015379 "ICD10:Q18.8" -MONDO:0016325 "ICD10:E74.0" +MONDO:0015379 "ICD10CM:Q18.8" MONDO:0016325 "UMLS:CN201158" +MONDO:0016325 "ICD10CM:E74.0" MONDO:0016325 "Orphanet:217572" CL:1000280 "FMA:15663" MONDO:0008721 "ICD9:277.85" -MONDO:0008721 "ICD10:E71.3" +MONDO:0008721 "ICD10CM:E71.3" MONDO:0008721 "DOID:0080153" -MONDO:0008721 "ICD10:E71.311" +MONDO:0008721 "ICD10CM:E71.311" MONDO:0008721 "NCIT:C84538" MONDO:0008721 "SCTID:128596003" MONDO:0008721 "MESH:C536038" @@ -34600,9 +33786,9 @@ MONDO:0016735 "Orphanet:251962" MONDO:0016735 "NCIT:C92554" MONDO:0016735 "ICDO:9509/1" MONDO:0016735 "UMLS:C2985174" -MONDO:0020398 "ICD9:746.5" MONDO:0020398 "Orphanet:99057" -MONDO:0020398 "ICD10:Q23.2" +MONDO:0020398 "ICD9:746.5" +MONDO:0020398 "ICD10CM:Q23.2" MONDO:0020398 "HP:0011570" MONDO:0020398 "SCTID:82458004" MONDO:0020398 "GARD:0001496" @@ -34612,9 +33798,9 @@ MONDO:0002218 "ICD9:191.2" MONDO:0002218 "UMLS:C0153636" MONDO:0002218 "DOID:2135" MONDO:0002218 "UMLS:C1263887" -MONDO:0002218 "ICD10:C71.2" MONDO:0002218 "NCIT:C5567" MONDO:0002218 "SCTID:363468009" +MONDO:0002218 "ICD10CM:C71.2" MONDO:0002218 "SCTID:126955002" MONDO:0003776 "NCIT:C6187" MONDO:0003776 "DOID:6118" @@ -34628,7 +33814,7 @@ MONDO:0024330 "UMLS:C2827407" MONDO:0011451 "Orphanet:1561" MONDO:0011451 "DOID:0080357" MONDO:0011451 "OMIM:604377" -MONDO:0008849 "ICD10:L66.4" +MONDO:0008849 "ICD10CM:L66.4" MONDO:0008849 "OMIM:604093" MONDO:0008849 "GARD:0009744" MONDO:0008849 "Orphanet:79100" @@ -34641,7 +33827,6 @@ MONDO:0012688 "Orphanet:98991" MONDO:0012688 "Orphanet:91492" MONDO:0012688 "DOID:0110270" MONDO:0012688 "MESH:C566923" -MONDO:0012688 "ICD10:Q12.0" MONDO:0018840 "SCTID:79607001" MONDO:0018840 "NCIT:C97071" MONDO:0018840 "ICD9:777.8" @@ -34652,7 +33837,7 @@ MONDO:0018840 "MESH:C562378" MONDO:0008604 "UMLS:C1860807" MONDO:0008604 "MESH:C566028" MONDO:0008604 "OMIM:190500" -MONDO:0016618 "ICD10:M08.3" +MONDO:0016618 "ICD10CM:M08.3" MONDO:0016618 "Orphanet:247861" MONDO:0003659 "DOID:5823" MONDO:0003659 "NCIT:C5165" @@ -34665,9 +33850,9 @@ MONDO:0002617 "DOID:3351" MONDO:0002617 "UMLS:C1332574" MONDO:0002617 "NCIT:C6479" MONDO:0022615 "GARD:0001041" -MONDO:0017222 "ICD10:E75.2" MONDO:0017222 "Orphanet:280219" MONDO:0017222 "SCTID:87607002" +MONDO:0017222 "ICD10CM:E75.2" MONDO:0008103 "MESH:C563512" MONDO:0008103 "OMIM:163850" MONDO:0008103 "UMLS:C1834143" @@ -34680,7 +33865,6 @@ MONDO:0005817 "SCTID:10651001" MONDO:0005817 "EFO:0007335" MONDO:0005817 "GARD:0006840" MONDO:0018780 "Orphanet:476406" -MONDO:0001003 "ICD10:J62.0" MONDO:0001003 "SCTID:73144008" MONDO:0001003 "ICD9:502" MONDO:0001003 "NCIT:C27026" @@ -34721,9 +33905,9 @@ MONDO:0008598 "Orphanet:3361" MONDO:0033620 "OMIM:619040" MONDO:0016210 "Orphanet:209978" MONDO:0016210 "SCTID:404689008" +MONDO:0018663 "ICD10CM:Q77.8" MONDO:0018663 "OMIM:618019" MONDO:0018663 "Orphanet:448267" -MONDO:0018663 "ICD10:Q77.8" MONDO:0018663 "UMLS:CN248525" MONDO:0009544 "Orphanet:2477" MONDO:0009544 "MESH:C537453" @@ -34740,28 +33924,28 @@ MONDO:0006378 "NCIT:C45662" MONDO:0006378 "EFO:1000484" MONDO:0005124 "OMIM:613223" MONDO:0005124 "OMIM:613407" -MONDO:0005124 "ICD10:A30.9" +MONDO:0005124 "ICD10CM:A30.0" MONDO:0005124 "MedDRA:10024229" MONDO:0005124 "NCIT:C84824" MONDO:0005124 "OMIM:246300" +MONDO:0005124 "ICD10CM:A30" MONDO:0005124 "EFO:0001054" MONDO:0005124 "OMIM:607572" -MONDO:0005124 "ICD10:A30.2" +MONDO:0005124 "ICD10CM:A30.4" MONDO:0005124 "ICD9:030.8" MONDO:0005124 "OMIM:609888" -MONDO:0005124 "ICD10:A30.0" +MONDO:0005124 "ICD10CM:A30.2" MONDO:0005124 "UMLS:C0023343" -MONDO:0005124 "ICD10:A30.3" +MONDO:0005124 "ICD10CM:A30.1" MONDO:0005124 "Orphanet:548" -MONDO:0005124 "ICD10:A30.4" -MONDO:0005124 "ICD10:A30" -MONDO:0005124 "ICD10:A30.1" +MONDO:0005124 "ICD10CM:A30.8" +MONDO:0005124 "ICD10CM:A30.5" +MONDO:0005124 "ICD10CM:A30.3" MONDO:0005124 "GARD:0006886" MONDO:0005124 "MESH:D007918" -MONDO:0005124 "ICD10:A30.8" MONDO:0005124 "OMIM:610988" MONDO:0005124 "DOID:1024" -MONDO:0005124 "ICD10:A30.5" +MONDO:0005124 "ICD10CM:A30.9" MONDO:0005124 "SCTID:81004002" MONDO:0005124 "ICD9:030" MONDO:0005124 "ICD9:030.9" @@ -34772,7 +33956,6 @@ MONDO:0008500 "UMLS:C1861447" MONDO:0008500 "OMIM:185200" MONDO:0008500 "MESH:C566104" MONDO:0012163 "MESH:C563822" -MONDO:0012163 "ICD10:D81.2" MONDO:0012163 "OMIM:608971" MONDO:0012163 "Orphanet:169160" MONDO:0012163 "DOID:0090014" @@ -34784,21 +33967,21 @@ MONDO:0010966 "Orphanet:932" MONDO:0010966 "DOID:0080055" MONDO:0010966 "OMIM:600972" MONDO:0010966 "Orphanet:93298" -MONDO:0010966 "ICD10:Q77.0" +MONDO:0010966 "ICD10CM:Q77.0" MONDO:0021907 "GARD:0000749" MONDO:0017768 "NCIT:C85041" MONDO:0017768 "ICD9:345.10" MONDO:0017768 "UMLS:C0270857" MONDO:0017768 "SCTID:79745005" -MONDO:0017768 "ICD10:G40.8" MONDO:0017768 "DOID:2548" +MONDO:0017768 "ICD10CM:G40.8" MONDO:0017768 "MESH:D020195" MONDO:0017768 "EFO:1001146" MONDO:0017768 "Orphanet:310" -MONDO:0016514 "ICD10:Q81.0" MONDO:0016514 "Orphanet:2325" +MONDO:0016514 "ICD10CM:Q81.0" MONDO:0019695 "Orphanet:93436" -MONDO:0019695 "ICD10:Q74.8" +MONDO:0019695 "ICD10CM:Q74.8" MONDO:0020177 "Orphanet:98586" MONDO:0020177 "UMLS:CN207037" NCBITaxon:10404 "GC_ID:1" @@ -34813,20 +33996,21 @@ MONDO:0003208 "ICDO:8508/3" MONDO:0003208 "ICDO:8502/3" MONDO:0002492 "MESH:D058186" MONDO:0002492 "NCIT:C26808" -MONDO:0002492 "ICD10:N17" +MONDO:0002492 "ICD10CM:N17" +MONDO:0002492 "ICD10CM:N17-N19" MONDO:0002492 "DOID:3021" MONDO:0024636 "SCTID:399617002" MONDO:0024636 "ICD9:429.89" MONDO:0009765 "OMIM:257600" MONDO:0009765 "MESH:C564937" MONDO:0009765 "UMLS:C1850341" +MONDO:0008995 "ICD10CM:Q87.8" MONDO:0008995 "OMIM:216340" MONDO:0008995 "DOID:0060589" MONDO:0008995 "GARD:0000331" MONDO:0008995 "Orphanet:3472" MONDO:0008995 "MESH:C536719" MONDO:0008995 "UMLS:C1857663" -MONDO:0008995 "ICD10:Q87.8" NCBITaxon:80840 "PMID:16403855" NCBITaxon:80840 "GC_ID:11" MONDO:0019703 "Orphanet:93444" @@ -34834,20 +34018,21 @@ MONDO:0019703 "UMLS:CN043667" HP:0001600 "UMLS:C4021777" MONDO:0017955 "UMLS:CN204101" MONDO:0017955 "Orphanet:324930" +MONDO:0008190 "OMIM:167959" MONDO:0014708 "SCTID:702345009" MONDO:0014708 "GARD:0006072" MONDO:0014708 "ICD9:758.89" MONDO:0014708 "OMIM:616606" +MONDO:0014708 "ICD10CM:Q93.2" MONDO:0014708 "Orphanet:1440" MONDO:0014708 "UMLS:CN233170" MONDO:0014708 "MESH:C535487" -MONDO:0014708 "ICD10:Q93.2" MONDO:0020248 "GARD:0005506" MONDO:0020248 "HP:0007964" MONDO:0020248 "Orphanet:98670" MONDO:0020248 "SCTID:247182006" +MONDO:0020248 "ICD10CM:H35.5" MONDO:0020248 "UMLS:C0344290" -MONDO:0020248 "ICD10:H35.5" MONDO:0022151 "GARD:0001277" MONDO:0022151 "MESH:C535929" MONDO:0022151 "UMLS:C2931066" @@ -34886,24 +34071,23 @@ MONDO:0008494 "Orphanet:398088" MONDO:0008494 "Orphanet:90044" MONDO:0008494 "MESH:C535827" MONDO:0008494 "OMIM:185020" -MONDO:0008494 "ICD10:D58.8" -MONDO:0015997 "ICD10:Q15.8" +MONDO:0008494 "ICD10CM:D58.8" MONDO:0015997 "MESH:C536124" MONDO:0015997 "SCTID:722437006" +MONDO:0015997 "ICD10CM:Q15.8" MONDO:0015997 "GARD:0003999" MONDO:0015997 "Orphanet:1884" MONDO:0006060 "EFO:1000058" CL:1000427 "FMA:69795" CL:0000552 "FMA:84646" -MONDO:0014186 "ICD10:H35.5" MONDO:0014186 "UMLS:C3809503" MONDO:0014186 "DOID:0110419" MONDO:0014186 "OMIM:615434" -MONDO:0007297 "ICD10:E85.4+" +MONDO:0007297 "ICD10EXP:I68.0*" +MONDO:0007297 "ICD10EXP:E85.4+" MONDO:0007297 "MESH:C538209" -MONDO:0007297 "UMLS:C1861735" MONDO:0007297 "GARD:0009169" -MONDO:0007297 "ICD10:I68.0*" +MONDO:0007297 "UMLS:C1861735" MONDO:0007297 "OMIM:117300" MONDO:0007297 "Orphanet:97346" MONDO:0007297 "DOID:0070030" @@ -34919,18 +34103,18 @@ MONDO:0010674 "UMLS:C0026705" MONDO:0010674 "MESH:D016532" MONDO:0010674 "NCIT:C61260" MONDO:0010674 "SCTID:70737009" -MONDO:0010674 "ICD10:E76.1" MONDO:0010674 "Orphanet:79388" MONDO:0010674 "DOID:12799" MONDO:0010674 "MedDRA:10056889" +MONDO:0010674 "ICD10CM:E76.1" MONDO:0005985 "MESH:D014036" MONDO:0005985 "GARD:0007776" MONDO:0005985 "EFO:0007513" MONDO:0005985 "UMLS:C0040361" +MONDO:0011620 "ICD10CM:Q78.5" MONDO:0011620 "OMIM:605946" MONDO:0011620 "UMLS:C1853825" MONDO:0011620 "SCTID:717221005" -MONDO:0011620 "ICD10:Q78.5" MONDO:0011620 "Orphanet:85188" MONDO:0011620 "MESH:C565271" MONDO:0002867 "NCIT:C3874" @@ -34950,14 +34134,14 @@ MONDO:0012853 "Orphanet:2095" MONDO:0012853 "GARD:0004497" MONDO:0012853 "MESH:C537290" MONDO:0012853 "OMIM:233500" +MONDO:0012853 "ICD10CM:E34.8" +MONDO:0012853 "ICD10CM:Q87.0" MONDO:0012853 "ICD9:759.89" -MONDO:0012853 "ICD10:Q87.0" MONDO:0012853 "SCTID:205800003" MONDO:0012853 "GARD:0000066" MONDO:0012853 "UMLS:C2931653" -MONDO:0012853 "ICD10:E34.8" +MONDO:0015043 "ICD10CM:C90.2" MONDO:0015043 "Orphanet:100022" -MONDO:0015043 "ICD10:C90.2" MONDO:0015043 "UMLS:CN197328" MONDO:0011726 "OMIM:606787" MONDO:0011726 "MESH:C564658" @@ -34979,7 +34163,6 @@ MONDO:0018309 "GARD:0006660" MONDO:0018309 "DOID:10487" MONDO:0018309 "MedDRA:10010539" MONDO:0018309 "OMIM:606875" -MONDO:0018309 "ICD10:Q43.1" MONDO:0018309 "NCIT:C34700" MONDO:0018309 "OMIM:611644" MONDO:0018309 "SCTID:204739008" @@ -34997,8 +34180,13 @@ MONDO:0010895 "UMLS:C1838099" MONDO:0010895 "DOID:0050600" MONDO:0010895 "OMIM:600501" MONDO:0020634 "NCIT:C38938" +MONDO:0001879 "NCIT:C7379" +MONDO:0001879 "ICD9:154.2" +MONDO:0001879 "GARD:0009300" +MONDO:0001879 "DOID:14110" +MONDO:0001879 "ICD9:154.3" MONDO:0011841 "Orphanet:199348" -MONDO:0011841 "ICD10:G25.8" +MONDO:0011841 "ICD10CM:G25.8" MONDO:0011841 "OMIM:607483" MONDO:0011841 "GARD:0010237" MONDO:0011841 "SCTID:723557004" @@ -35008,22 +34196,15 @@ MONDO:0011841 "UMLS:C1843807" MONDO:0011841 "ICD9:333.99" MONDO:0011841 "DOID:0050659" MONDO:0011841 "MESH:C537658" -MONDO:0001879 "ICD10:C21.1" -MONDO:0001879 "NCIT:C7379" -MONDO:0001879 "ICD9:154.2" -MONDO:0001879 "GARD:0009300" -MONDO:0001879 "ICD10:C21.0" -MONDO:0001879 "DOID:14110" -MONDO:0001879 "ICD9:154.3" MONDO:0018758 "UMLS:CN242171" MONDO:0018758 "Orphanet:466729" MONDO:0018758 "OMIM:607411" MONDO:0018758 "OMIM:617035" MONDO:0018758 "OMIM:617039" MONDO:0019127 "MESH:D017285" -MONDO:0019127 "ICD10:M33.2" MONDO:0019127 "MedDRA:10036102" MONDO:0019127 "NCIT:C26925" +MONDO:0019127 "ICD10CM:M33.2" MONDO:0019127 "UMLS:C0085655" MONDO:0019127 "SCTID:31384009" MONDO:0019127 "GARD:0007425" @@ -35031,9 +34212,9 @@ MONDO:0019127 "ICD9:710.4" MONDO:0019127 "Orphanet:732" MONDO:0019127 "Wikipedia:Polymyositis" MONDO:0019127 "EFO:0003063" +MONDO:0016484 "ICD10CM:H35.5" MONDO:0016484 "OMIM:276901" MONDO:0016484 "OMIM:605472" -MONDO:0016484 "ICD10:H35.5" MONDO:0016484 "SCTID:232058008" MONDO:0016484 "Orphanet:231178" MONDO:0016484 "OMIM:611383" @@ -35045,15 +34226,14 @@ MONDO:0008880 "MESH:C538164" MONDO:0008880 "Orphanet:1271" MONDO:0008880 "UMLS:C1859404" MONDO:0008880 "OMIM:211200" +MONDO:0014205 "ICD10CM:Q87.0" MONDO:0014205 "UMLS:C3809650" -MONDO:0014205 "ICD10:Q87.0" MONDO:0014205 "OMIM:615485" MONDO:0014205 "Orphanet:352577" MONDO:0013435 "DOID:0110623" MONDO:0013435 "Orphanet:244" MONDO:0013435 "UMLS:C3151137" MONDO:0013435 "OMIM:613808" -MONDO:0013435 "ICD10:Q34.8" MONDO:0006168 "NCIT:C7588" MONDO:0006168 "EFO:1000201" MONDO:0003354 "UMLS:C0238152" @@ -35062,7 +34242,7 @@ MONDO:0003354 "DOID:5262" MONDO:0040925 "UMLS:C0153240" MONDO:0040925 "SCTID:186973005" MONDO:0017886 "UMLS:C4518356" -MONDO:0017886 "ICD10:C64" +MONDO:0017886 "ICD10CM:C64" MONDO:0017886 "OMIM:300854" MONDO:0017886 "SCTID:764694005" MONDO:0017886 "Orphanet:319308" @@ -35071,7 +34251,6 @@ MONDO:0020027 "UMLS:CN206951" MONDO:0020027 "Orphanet:98050" MONDO:0009052 "OMIM:219100" MONDO:0009052 "MESH:C562628" -MONDO:0009052 "ICD10:Q82.8" MONDO:0009052 "UMLS:CN033664" MONDO:0009052 "DOID:0070135" MONDO:0009052 "SCTID:59451000" @@ -35092,8 +34271,6 @@ MONDO:0004386 "DOID:7878" MONDO:0004039 "DOID:6931" MONDO:0033926 "Orphanet:525738" MONDO:0044223 "OMIM:111620" -MONDO:0004796 "ICD10:G03" -MONDO:0004796 "ICD10:G03.9" MONDO:0004796 "MESH:D008581" MONDO:0004796 "HP:0001287" MONDO:0004796 "NCIT:C79598" @@ -35124,19 +34301,18 @@ MONDO:0021016 "MESH:D053447" MONDO:0021016 "UMLS:C1720983" NCBITaxon:171549 "PMID:28905708" NCBITaxon:171549 "GC_ID:11" -MONDO:0019860 "ICD10:E03.1" MONDO:0019860 "OMIM:218700" +MONDO:0019860 "ICD10CM:E03.1" MONDO:0019860 "UMLS:C4023190" MONDO:0019860 "Orphanet:95719" MONDO:0019860 "SCTID:715734006" MONDO:0020342 "MESH:C579880" MONDO:0020342 "OMIM:161800" -MONDO:0020342 "ICD10:G71.2" +MONDO:0020342 "ICD10CM:G71.2" MONDO:0020342 "Orphanet:98904" MONDO:0005417 "UMLS:C0271084" MONDO:0005417 "SCTID:414173003" MONDO:0005417 "MESH:D057135" -MONDO:0005417 "ICD10:H35.32" MONDO:0005417 "EFO:0004683" MONDO:0005417 "DOID:10873" MONDO:0005417 "UMLS:C2237660" @@ -35176,12 +34352,12 @@ MONDO:0015589 "NCIT:C4350" MONDO:0015589 "ICD9:323.81" MONDO:0015589 "Orphanet:163895" MONDO:0015589 "SCTID:445014002" -MONDO:0015589 "ICD10:G13.1" +MONDO:0015589 "ICD10CM:G13.1" MONDO:0004679 "NCIT:C3663" MONDO:0004679 "SCTID:111420009" -MONDO:0004679 "ICD10:N89.4" MONDO:0004679 "ICD9:623.1" MONDO:0004679 "DOID:8920" +MONDO:0004679 "ICD10CM:N89.4" MONDO:0004679 "UMLS:C0156385" MONDO:0001428 "DOID:12072" MONDO:0001428 "ICD9:537.81" @@ -35190,7 +34366,6 @@ MONDO:0001428 "SCTID:335002" MONDO:0005625 "ICD9:084.9" MONDO:0005625 "UMLS:C0024534" MONDO:0005625 "DOID:14069" -MONDO:0005625 "ICD10:B50.0" MONDO:0005625 "Wikipedia:Malaria" MONDO:0005625 "MESH:D016779" MONDO:0005625 "NCIT:C128373" @@ -35205,8 +34380,8 @@ MONDO:0001029 "DOID:10426" MONDO:0001029 "OMIM:613702" MONDO:0001029 "OMIM:214300" MONDO:0001029 "SCTID:5601008" -MONDO:0001029 "ICD10:Q76.1" MONDO:0001029 "OMIMPS:118100" +MONDO:0001029 "ICD10CM:Q76.1" MONDO:0001029 "MESH:D007714" MONDO:0000259 "DOID:0050143" NCBITaxon:33743 "GC_ID:1" @@ -35215,18 +34390,17 @@ MONDO:0018233 "UMLS:C2748918" MONDO:0018233 "Orphanet:364541" MONDO:0021374 "SCTID:126953009" MONDO:0021374 "NCIT:C4874" -MONDO:0001205 "SCTID:29369005" -MONDO:0001205 "ICD10:H40.82" -MONDO:0001205 "UMLS:C0154968" -MONDO:0001205 "DOID:11148" -MONDO:0001205 "ICD9:365.81" -MONDO:0012716 "ICD10:Q77.7" +MONDO:0012716 "ICD10CM:Q77.7" MONDO:0012716 "MESH:C567128" MONDO:0012716 "SCTID:718765003" MONDO:0012716 "GARD:0010629" MONDO:0012716 "OMIM:611717" MONDO:0012716 "UMLS:C2673649" MONDO:0012716 "Orphanet:163654" +MONDO:0001205 "SCTID:29369005" +MONDO:0001205 "UMLS:C0154968" +MONDO:0001205 "DOID:11148" +MONDO:0001205 "ICD9:365.81" MONDO:0022457 "GARD:0000697" MONDO:0021203 "SCTID:80327007" MONDO:0004405 "DOID:7941" @@ -35236,6 +34410,7 @@ MONDO:0004405 "SCTID:721617001" MONDO:0004405 "NCIT:C7027" MONDO:0022825 "GARD:0010617" MONDO:0022825 "Orphanet:519384" +MONDO:0006858 "ICD10CM:K00-K14" MONDO:0006858 "SCTID:118938008" MONDO:0006858 "DOID:403" MONDO:0006858 "NCIT:C3240" @@ -35244,40 +34419,39 @@ MONDO:0006858 "ICD9:528.9" MONDO:0006858 "EFO:1001047" MONDO:0006858 "MESH:D009059" MONDO:0016193 "Orphanet:209059" -MONDO:0018162 "ICD10:E72.8" MONDO:0018162 "Orphanet:35705" MONDO:0018162 "UMLS:CN227274" +MONDO:0018162 "ICD10CM:E72.8" MONDO:0015776 "OMIM:600121" MONDO:0015776 "NCIT:C85047" MONDO:0015776 "OMIMPS:215100" MONDO:0015776 "UMLS:C0282529" -MONDO:0015776 "ICD10:Q77.3" MONDO:0015776 "Orphanet:177" MONDO:0015776 "SCTID:56692003" -MONDO:0015776 "ICD10:E71.540" +MONDO:0015776 "ICD10CM:Q77.3" MONDO:0015776 "OMIM:215100" MONDO:0015776 "OMIM:616716" MONDO:0015776 "GARD:0013160" +MONDO:0015776 "ICD10CM:E71.540" MONDO:0015776 "MESH:D018902" MONDO:0015776 "OMIM:222765" MONDO:0015776 "DOID:2580" -MONDO:0005283 "ICD10:H35.9" MONDO:0005283 "NCIT:C62601" MONDO:0005283 "HGNC:8002" MONDO:0005283 "ICD9:362.9" MONDO:0005283 "EFO:0003839" +MONDO:0005283 "ICD10CM:H30-H36" MONDO:0005283 "SCTID:29555009" MONDO:0005283 "DOID:5679" MONDO:0005283 "UMLS:C0035309" MONDO:0005283 "ICD9:362.89" MONDO:0005283 "MESH:D012164" -MONDO:0016850 "ICD10:H35.5" +MONDO:0016850 "ICD10CM:H35.5" MONDO:0016850 "UMLS:CN202196" MONDO:0016850 "Orphanet:261501" MONDO:0016850 "SCTID:733626002" MONDO:0016850 "UMLS:C4518083" MONDO:0018689 "ICDO:9733/3" -MONDO:0018689 "ICD10:C90.10" MONDO:0018689 "MESH:D007952" MONDO:0018689 "UMLS:C0023484" MONDO:0018689 "NCIT:C3180" @@ -35287,7 +34461,6 @@ MONDO:0018689 "ICD9:203.1" MONDO:0018689 "EFO:0006475" MONDO:0018689 "DOID:9513" MONDO:0018689 "ICD9:203.10" -MONDO:0018689 "ICD10:C90.1" MONDO:0018689 "GARD:0009373" MONDO:0002869 "ICD9:424.99" MONDO:0002869 "DOID:4079" @@ -35298,7 +34471,6 @@ MONDO:0002869 "UMLS:C0018824" MONDO:0009746 "Orphanet:642" MONDO:0009746 "OMIM:256800" MONDO:0009746 "SCTID:62985007" -MONDO:0009746 "ICD10:G60.8" MONDO:0009746 "DOID:0070146" MONDO:0009746 "PMID:8696348" MONDO:0009746 "UMLS:C0020074" @@ -35306,12 +34478,13 @@ MONDO:0009746 "PMID:14272277" MONDO:0009746 "NCIT:C118633" MONDO:0009746 "GARD:3006" MONDO:0009746 "GARD:0003006" +MONDO:0009746 "ICD10CM:G60.8" MONDO:0013038 "SCTID:719475006" MONDO:0013038 "MESH:C567863" +MONDO:0013038 "ICD10CM:Q87.3" MONDO:0013038 "GARD:0010939" MONDO:0013038 "DOID:0080351" MONDO:0013038 "OMIM:612918" -MONDO:0013038 "ICD10:Q87.3" MONDO:0013038 "UMLS:C2752042" MONDO:0013038 "Orphanet:140944" MONDO:0013038 "GARD:10939" @@ -35328,35 +34501,35 @@ MONDO:0005189 "EFO:0002615" MONDO:0007462 "OMIM:126200" MONDO:0007462 "OMIMPS:126200" MONDO:0010535 "OMIM:301845" +MONDO:0010535 "UMLS:CN200039" +MONDO:0010535 "ICD10CM:L98.8" +MONDO:0010535 "Orphanet:113" MONDO:0010535 "Orphanet:166113" +MONDO:0010535 "SCTID:254820002" MONDO:0010535 "SCTID:238640007" -MONDO:0010535 "GARD:0000838" -MONDO:0010535 "Orphanet:113" -MONDO:0010535 "ICD10:L98.8" -MONDO:0010535 "UMLS:CN200039" MONDO:0010535 "UMLS:C0406355" -MONDO:0010535 "SCTID:254820002" MONDO:0010535 "ICD9:757.39" -MONDO:0005846 "Orphanet:2552" -MONDO:0005846 "UMLS:C0085407" -MONDO:0005846 "MedDRA:10053982" +MONDO:0010535 "GARD:0000838" MONDO:0005846 "NCIT:C84891" -MONDO:0005846 "ICD9:117.9" -MONDO:0005846 "SCTID:699676006" MONDO:0005846 "DOID:4271" -MONDO:0005846 "MESH:D016881" MONDO:0005846 "GARD:0003655" -MONDO:0005846 "ICD10:B60.8" +MONDO:0005846 "MedDRA:10053982" +MONDO:0005846 "SCTID:699676006" MONDO:0005846 "EFO:0007366" +MONDO:0005846 "ICD9:117.9" +MONDO:0005846 "ICD10CM:B60.8" +MONDO:0005846 "MESH:D016881" +MONDO:0005846 "Orphanet:2552" +MONDO:0005846 "UMLS:C0085407" MONDO:0014351 "DOID:0060278" MONDO:0014351 "UMLS:C4014354" -MONDO:0014351 "ICD10:Q04.3" MONDO:0014351 "OMIM:615809" +MONDO:0014351 "ICD10CM:Q04.3" MONDO:0014351 "Orphanet:369920" MONDO:0016380 "GARD:0002864" MONDO:0016380 "SCTID:25967007" -MONDO:0016380 "ICD10:L68.1" MONDO:0016380 "Orphanet:2221" +MONDO:0016380 "ICD10CM:L68.1" MONDO:0016380 "UMLS:CN201274" MONDO:0004271 "ICDO:8204/0" MONDO:0004271 "NCIT:C9473" @@ -35365,6 +34538,9 @@ MONDO:0004271 "DOID:7539" MONDO:0036990 "UMLS:C0334409" MONDO:0036990 "ICDO:8650/0" MONDO:0036990 "NCIT:C4212" +MONDO:0014479 "UMLS:C4015128" +MONDO:0014479 "Orphanet:79152" +MONDO:0014479 "OMIM:616063" MONDO:0011256 "OMIM:602564" MONDO:0011256 "MESH:C566519" MONDO:0011256 "UMLS:C1865180" @@ -35374,9 +34550,6 @@ MONDO:0000688 "ICD9:277.89" MONDO:0000688 "GARD:0009433" MONDO:0000688 "DOID:0060159" MONDO:0000688 "NCIT:C101334" -MONDO:0014479 "UMLS:C4015128" -MONDO:0014479 "Orphanet:79152" -MONDO:0014479 "OMIM:616063" MONDO:0012202 "OMIM:609148" MONDO:0006450 "NCIT:C27912" MONDO:0006450 "ONCOTREE:TMN" @@ -35388,9 +34561,9 @@ MONDO:0042495 "ICD9:440.8" MONDO:0042495 "SCTID:95691008" MONDO:0008409 "UMLS:C2931268" MONDO:0008409 "UMLS:C0751337" -MONDO:0008409 "ICD10:G71.0" -MONDO:0008409 "UMLS:CN074265" +MONDO:0008409 "ICD10CM:G71.0" MONDO:0008409 "Orphanet:437572" +MONDO:0008409 "UMLS:CN074265" MONDO:0008409 "SCTID:129620000" MONDO:0008409 "OMIM:181430" MONDO:0008409 "GARD:0010313" @@ -35405,7 +34578,6 @@ MONDO:0007533 "UMLS:C1851741" MONDO:0008044 "UMLS:C1834570" MONDO:0008044 "DOID:0090034" MONDO:0008044 "OMIM:159900" -MONDO:0008044 "ICD10:G24.1" MONDO:0008044 "OMIM:616398" MONDO:0006428 "EFO:1000547" MONDO:0006428 "NCIT:C7308" @@ -35413,7 +34585,6 @@ MONDO:0006428 "UMLS:C2018774" MONDO:0026426 "OMIM:300179" MONDO:0010910 "OMIM:600631" MONDO:0020090 "Orphanet:98313" -MONDO:0009804 "ICD10:Q78.0" MONDO:0009804 "DOID:0110339" MONDO:0009804 "GARD:0008695" MONDO:0009804 "MESH:C536044" @@ -35424,6 +34595,7 @@ MONDO:0009804 "Orphanet:216812" MONDO:0009804 "SCTID:385483009" MONDO:0009804 "OMIM:613848" MONDO:0009804 "OMIM:610682" +MONDO:0009804 "ICD10CM:Q78.0" MONDO:0009804 "OMIM:614856" MONDO:0009804 "OMIM:615220" MONDO:0009804 "NCIT:C99002" @@ -35438,22 +34610,22 @@ MONDO:0013643 "UMLS:C3280216" MONDO:0013643 "OMIM:614227" MONDO:0007891 "UMLS:CN201466" MONDO:0007891 "SCTID:765195000" -MONDO:0007891 "ICD10:L81.4" MONDO:0007891 "OMIM:151001" MONDO:0007891 "UMLS:C3492944" MONDO:0007891 "MESH:C573023" +MONDO:0007891 "ICD10CM:L81.4" MONDO:0007891 "Orphanet:231040" MONDO:0020029 "UMLS:CN206954" MONDO:0020029 "Orphanet:98054" MONDO:0007032 "OMIM:100100" MONDO:0007032 "UMLS:C0033770" +MONDO:0007032 "ICD10CM:Q79.4" MONDO:0007032 "MESH:C536477" MONDO:0007032 "DOID:0060889" MONDO:0007032 "GARD:0007479" MONDO:0007032 "NCIT:C85033" MONDO:0007032 "SCTID:5187006" MONDO:0007032 "MESH:D011535" -MONDO:0007032 "ICD10:Q79.4" MONDO:0007032 "UMLS:C0265363" MONDO:0007032 "Orphanet:2970" MONDO:0007032 "ICD9:756.71" @@ -35463,23 +34635,22 @@ HP:0010514 "UMLS:C0020506" HP:0010514 "MSH:D006964" HP:0010514 "SNOMEDCT_US:10649000" NCBITaxon:12475 "GC_ID:1" +MONDO:0020439 "ICD10CM:Q21.1" MONDO:0020439 "HP:0001655" MONDO:0020439 "MedDRA:10016982" MONDO:0020439 "MESH:D054092" MONDO:0020439 "DOID:13620" MONDO:0020439 "NCIT:C34619" MONDO:0020439 "UMLS:C0016522" -MONDO:0020439 "ICD10:Q21.1" MONDO:0020439 "Orphanet:99108" -MONDO:0010041 "ICD10:G11.1" MONDO:0010041 "OMIM:270550" MONDO:0010041 "MESH:C536787" +MONDO:0010041 "ICD10CM:G11.1" MONDO:0010041 "GARD:0004910" MONDO:0010041 "UMLS:C1849140" MONDO:0010041 "SCTID:702445005" MONDO:0010041 "DOID:0050946" MONDO:0010041 "Orphanet:98" -MONDO:0001175 "ICD10:H25.09" MONDO:0001175 "SCTID:446474007" MONDO:0001175 "UMLS:C2960113" MONDO:0001175 "UMLS:C0271163" @@ -35503,19 +34674,19 @@ MONDO:0015208 "UMLS:CN226625" MONDO:0015208 "Orphanet:108961" MONDO:0012308 "NCIT:C74997" MONDO:0012308 "Orphanet:220497" +MONDO:0012308 "ICD10CM:Q04.3" MONDO:0012308 "OMIM:614424" MONDO:0012308 "GARD:0010169" MONDO:0012308 "OMIM:611560" -MONDO:0012308 "ICD10:Q61.5" +MONDO:0012308 "ICD10CM:Q61.5" MONDO:0012308 "DOID:0110999" MONDO:0012308 "MESH:C536296" MONDO:0012308 "SCTID:716999001" -MONDO:0012308 "ICD10:Q04.3" MONDO:0012308 "OMIM:609583" +MONDO:0018468 "ICD10CM:K20" MONDO:0018468 "Orphanet:411696" -MONDO:0018468 "ICD10:K20" MONDO:0017840 "Orphanet:315311" -MONDO:0017840 "ICD10:E25.0" +MONDO:0017840 "ICD10CM:E25.0" MONDO:0004961 "EFO:0000205" MONDO:0002249 "UMLS:C0836924" MONDO:0002249 "NCIT:C35530" @@ -35534,17 +34705,16 @@ MONDO:0017066 "Orphanet:268392" MONDO:0017066 "UMLS:CN202425" MONDO:0017066 "ICD9:741.91" MONDO:0017066 "SCTID:425687007" -MONDO:0019329 "ICD10:D18.1" MONDO:0019329 "GARD:0013020" +MONDO:0019329 "ICD10CM:D18.1" MONDO:0019329 "Orphanet:79490" MONDO:0017456 "SCTID:205130008" -MONDO:0017456 "ICD10:Q69.0" +MONDO:0017456 "ICD10CM:Q69.0" MONDO:0017456 "Orphanet:295004" MONDO:0017456 "GARD:0012769" MONDO:0005133 "NCIT:C3014" MONDO:0005133 "SCTID:129103003" -MONDO:0005133 "ICD10:N80.9" -MONDO:0005133 "ICD10:N80" +MONDO:0005133 "ICD10CM:N80" MONDO:0005133 "ICD9:617.8" MONDO:0005133 "DOID:289" MONDO:0005133 "MESH:D004715" @@ -35559,7 +34729,6 @@ MONDO:0000467 "NCIT:C111119" MONDO:0000467 "DOID:0050822" MONDO:0000467 "UMLS:C1621824" MONDO:0012172 "DOID:0111277" -MONDO:0012172 "ICD10:G71.3" MONDO:0012172 "OMIM:609015" MONDO:0012172 "SCTID:237999008" MONDO:0012172 "NCIT:C98991" @@ -35567,29 +34736,29 @@ MONDO:0012172 "GARD:0003684" MONDO:0012172 "Orphanet:746" MONDO:0012172 "ICD9:277.85" MONDO:0012172 "MESH:C566945" +MONDO:0012172 "ICD10CM:G71.3" NCBITaxon:7953 "GC_ID:1" MONDO:0007312 "UMLS:C1861668" MONDO:0007312 "OMIM:118301" MONDO:0007312 "MESH:C538079" MONDO:0014999 "OMIM:617275" -MONDO:0010537 "ICD10:Q87.8" MONDO:0010537 "DOID:0050681" MONDO:0010537 "SCTID:21634003" MONDO:0010537 "ICD9:759.89" +MONDO:0010537 "ICD10CM:Q87.8" MONDO:0010537 "UMLS:C0265339" MONDO:0010537 "MESH:C536575" MONDO:0010537 "Orphanet:127" MONDO:0010537 "OMIM:301900" MONDO:0010537 "GARD:0000936" MONDO:0016697 "Orphanet:251633" -MONDO:0016697 "ICD10:D43.2" +MONDO:0016697 "ICD10CM:D43.2" MONDO:0016697 "UMLS:CN201940" MONDO:0015941 "SCTID:766870005" +MONDO:0015941 "ICD10CM:Q87.0" MONDO:0015941 "Orphanet:1825" -MONDO:0015941 "ICD10:Q87.0" MONDO:0015941 "GARD:0002178" MONDO:0015941 "UMLS:CN200532" -MONDO:0018897 "ICD10:C86.6" MONDO:0018897 "MedDRA:10065863" MONDO:0018897 "UMLS:C1301362" MONDO:0018897 "Orphanet:541" @@ -35602,16 +34771,15 @@ MONDO:0009911 "MESH:C562708" MONDO:0009911 "SCTID:67873006" MONDO:0009911 "OMIM:264110" MONDO:0009911 "ICD9:253.4" +MONDO:0001929 "ICD10CM:K83.0" MONDO:0001929 "NCIT:C35372" MONDO:0001929 "SCTID:26918003" MONDO:0001929 "UMLS:C0311273" -MONDO:0001929 "ICD10:K83.0" MONDO:0001929 "DOID:14270" MONDO:0002811 "SCTID:372065009" MONDO:0002811 "DOID:3924" MONDO:0002811 "ICD9:162.2" MONDO:0002811 "UMLS:C0153490" -MONDO:0002811 "ICD10:C34.0" MONDO:0004100 "UMLS:C1334788" MONDO:0004100 "NCIT:C9423" MONDO:0004100 "DOID:7081" @@ -35633,7 +34801,7 @@ MONDO:0007609 "UMLS:CN030594" MONDO:0007609 "OMIM:135300" MONDO:0007609 "GARD:0006509" HP:0002846 "UMLS:C4021748" -MONDO:0015295 "ICD10:Q87.8" +MONDO:0015295 "ICD10CM:Q87.8" MONDO:0015295 "UMLS:CN226653" MONDO:0015295 "Orphanet:137622" NCBITaxon:28450 "PMID:12734250" @@ -35650,18 +34818,14 @@ MONDO:0024300 "NCIT:C131449" MONDO:0011117 "UMLS:C1866608" MONDO:0011117 "OMIM:601616" MONDO:0011117 "MESH:C566651" -MONDO:0001364 "ICD10:H52.22" MONDO:0001364 "DOID:11781" MONDO:0001364 "SCTID:68905002" MONDO:0001364 "ICD9:367.21" MONDO:0001364 "UMLS:C0152193" -MONDO:0005541 "ICD10:M43.0" MONDO:0005541 "EFO:0005649" -MONDO:0005541 "SCTID:240221008" MONDO:0005541 "NCIT:C35034" +MONDO:0005541 "SCTID:240221008" MONDO:0005541 "DOID:2300" -MONDO:0005541 "SCTID_2010_1_31:240221008" -MONDO:0005541 "ICD10:M43.00" MONDO:0005541 "UMLS:C0038018" MONDO:0005541 "HP:0003304" MONDO:0005541 "MESH:D013169" @@ -35669,11 +34833,10 @@ MONDO:0002310 "DOID:2460" MONDO:0002310 "SCTID:37283009" MONDO:0002310 "UMLS:C0155372" MONDO:0002310 "ICD9:379.33" -MONDO:0002310 "ICD10:H27.12" CL:0002178 "FMA:62948" MONDO:0018702 "UMLS:CN237773" MONDO:0018702 "Orphanet:457077" -MONDO:0018702 "ICD10:M35.8" +MONDO:0018702 "ICD10CM:M35.8" MONDO:0003543 "SCTID:64309007" MONDO:0003543 "MESH:D020433" MONDO:0003543 "ICD9:350.8" @@ -35684,8 +34847,8 @@ MONDO:0043077 "GARD:0000392" MONDO:0043077 "MESH:C536688" MONDO:0019253 "Orphanet:79219" MONDO:0019253 "UMLS:CN205839" -MONDO:0010129 "ICD10:Q87.8" MONDO:0010129 "MESH:C536907" +MONDO:0010129 "ICD10CM:Q87.8" MONDO:0010129 "OMIM:274265" MONDO:0010129 "Orphanet:3326" MONDO:0010129 "SCTID:723555007" @@ -35701,23 +34864,22 @@ MONDO:0015661 "MedDRA:10012592" MONDO:0015661 "ICD9:746.87" MONDO:0015661 "MESH:D003914" MONDO:0015661 "HP:0001651" -MONDO:0015661 "ICD10:Q24.0" MONDO:0015661 "SCTID:27637000" MONDO:0015661 "GARD:0001827" +MONDO:0006294 "ICD9:163.8" +MONDO:0006294 "EFO:1000362" MONDO:0006294 "DOID:5158" -MONDO:0006294 "SCTID:363433009" +MONDO:0006294 "SCTID:126719004" MONDO:0006294 "NCIT:C3547" -MONDO:0006294 "EFO:1000362" -MONDO:0006294 "ICD10:C38.4" +MONDO:0006294 "ICD9:163.9" +MONDO:0006294 "NCIT:C3332" +MONDO:0006294 "SCTID:363433009" MONDO:0006294 "UMLS:C0032229" -MONDO:0006294 "ICD9:163" MONDO:0006294 "UMLS:C0153494" -MONDO:0006294 "NCIT:C3332" -MONDO:0006294 "ICD9:163.8" -MONDO:0006294 "ICD9:163.9" -MONDO:0006294 "SCTID:126719004" -MONDO:0009241 "ICD10:Q87.8" +MONDO:0006294 "ICD9:163" +MONDO:0006294 "ICD10CM:C38.4" MONDO:0009241 "SCTID:720957007" +MONDO:0009241 "ICD10CM:Q87.8" MONDO:0009241 "GARD:0000064" MONDO:0009241 "MESH:C537270" MONDO:0009241 "OMIM:229120" @@ -35729,7 +34891,6 @@ MONDO:0006123 "HP:0009729" MONDO:0006123 "UMLS:C1332852" MONDO:0018318 "UMLS:CN227320" MONDO:0018318 "Orphanet:391381" -MONDO:0001585 "ICD10:F16.1" MONDO:0001585 "DOID:12797" MONDO:0001585 "ICD9:305.3" MONDO:0001585 "SCTID:74851005" @@ -35751,10 +34912,10 @@ MONDO:0003614 "NCIT:C5356" MONDO:0003614 "NCIT:C4518" MONDO:0003614 "SCTID:254883003" MONDO:0013162 "Orphanet:206559" +MONDO:0013162 "ICD10CM:G71.0" MONDO:0013162 "GARD:0012539" MONDO:0013162 "DOID:0110298" MONDO:0013162 "OMIM:613158" -MONDO:0013162 "ICD10:G71.0" MONDO:0013162 "UMLS:C3150418" MONDO:0043264 "UMLS:C0751126" MONDO:0043264 "GARD:0007437" @@ -35766,12 +34927,10 @@ MONDO:0001793 "SCTID:193982009" MONDO:0001793 "NCIT:C50552" MONDO:0001793 "MESH:D007766" MONDO:0001793 "UMLS:C0152227" -MONDO:0001793 "ICD10:H04.2" MONDO:0001793 "DOID:13757" -MONDO:0001793 "ICD10:H04.20" MONDO:0001793 "ICD9:375.2" MONDO:0007696 "GARD:0002593" -MONDO:0007696 "ICD10:Q87.8" +MONDO:0007696 "ICD10CM:Q87.8" MONDO:0007696 "Orphanet:1927" MONDO:0007696 "OMIM:139750" MONDO:0007696 "UMLS:C1841693" @@ -35783,11 +34942,11 @@ MONDO:0044889 "SCTID:277617004" MONDO:0044889 "NCIT:C138211" MONDO:0044889 "UMLS:C0456863" MONDO:0009514 "Orphanet:2377" -MONDO:0009514 "ICD10:Q87.8" MONDO:0009514 "SCTID:232059000" MONDO:0009514 "DOID:1930" MONDO:0009514 "GARD:0012635" MONDO:0009514 "MedDRA:10056710" +MONDO:0009514 "ICD10CM:Q87.8" MONDO:0009514 "SCTID:5619004" MONDO:0009514 "NCIT:C34760" MONDO:0009514 "OMIM:245800" @@ -35806,28 +34965,26 @@ MONDO:0012926 "OMIM:612529" MONDO:0012926 "UMLS:C2675858" MONDO:0012926 "MESH:C567279" MONDO:0012926 "Orphanet:100033" -MONDO:0012926 "ICD10:K00.5" MONDO:0020082 "SCTID:737223000" MONDO:0020082 "GARD:0008317" MONDO:0020082 "UMLS:C1260325" MONDO:0020082 "NCIT:C27260" -MONDO:0020082 "ICD10:C96.4" MONDO:0020082 "Orphanet:98289" MONDO:0020082 "UMLS:CN206984" -MONDO:0016289 "ICD10:C53.0" MONDO:0016289 "UMLS:CN201079" -MONDO:0016289 "ICD10:C53.1" +MONDO:0016289 "ICD10CM:C53.1" +MONDO:0016289 "ICD10CM:C53.0" +MONDO:0016289 "ICD10CM:C53.8" MONDO:0016289 "Orphanet:213837" -MONDO:0016289 "ICD10:C53.8" MONDO:0003113 "UMLS:C0262963" MONDO:0003113 "DOID:4717" MONDO:0003113 "NCIT:C8881" MONDO:0003113 "UMLS:C1334581" MONDO:0003113 "NCIT:C3918" +MONDO:0025417 "MESH:D005586" MONDO:0023111 "UMLS:C2931262" MONDO:0023111 "MESH:C536609" MONDO:0023111 "GARD:0009423" -MONDO:0025417 "MESH:D005586" MONDO:0004356 "DOID:7762" MONDO:0004356 "UMLS:C1332983" MONDO:0004356 "NCIT:C6566" @@ -35845,30 +35002,29 @@ HP:0011107 "SNOMEDCT_US:426965005" HP:0011107 "UMLS:C0038363" HP:0011107 "SNOMEDCT_US:398870000" MONDO:0019665 "NCIT:C53971" -MONDO:0019665 "ICD10:M85.0" MONDO:0019665 "HP:0010736" MONDO:0019665 "MESH:D005358" MONDO:0019665 "ICD9:733.29" MONDO:0019665 "UMLS:C0016064" -MONDO:0019665 "ICD10:Q78.1" MONDO:0019665 "Orphanet:93277" +MONDO:0019665 "ICD10CM:Q78.1" MONDO:0019665 "SCTID:89859004" MONDO:0012025 "OMIM:608389" MONDO:0012025 "MESH:C564248" MONDO:0012025 "Orphanet:52429" MONDO:0012025 "UMLS:C1842124" +MONDO:0003159 "MESH:D020141" +MONDO:0003159 "SCTID:21112004" +MONDO:0003159 "DOID:484" +MONDO:0003159 "UMLS:C0600502" MONDO:0009670 "DOID:0060559" MONDO:0009670 "MESH:C537194" MONDO:0009670 "Orphanet:1486" MONDO:0009670 "UMLS:C1854664" -MONDO:0009670 "ICD10:Q68.8" +MONDO:0009670 "ICD10CM:Q68.8" MONDO:0009670 "OMIM:253310" MONDO:0009670 "SCTID:715418007" MONDO:0009670 "GARD:0003227" -MONDO:0003159 "MESH:D020141" -MONDO:0003159 "SCTID:21112004" -MONDO:0003159 "DOID:484" -MONDO:0003159 "UMLS:C0600502" MONDO:0013669 "OMIM:614291" MONDO:0013669 "Orphanet:145" MONDO:0000632 "DOID:0060095" @@ -35880,7 +35036,7 @@ MONDO:0000632 "ICD9:219.8" MONDO:0032687 "OMIM:618342" MONDO:0002280 "ICD9:285.9" MONDO:0002280 "DOID:2355" -MONDO:0002280 "ICD10:D64.9" +MONDO:0002280 "ICD10CM:D50-D53" MONDO:0002280 "ICD9:285.8" MONDO:0002280 "NCIT:C2869" MONDO:0002280 "HP:0001903" @@ -35900,16 +35056,15 @@ MONDO:0007930 "DOID:0111059" MONDO:0007930 "OMIM:153670" MONDO:0007930 "UMLS:C3277076" MONDO:0007930 "Orphanet:274" -MONDO:0032923 "OMIM:618800" MONDO:0013466 "Orphanet:1991" MONDO:0013466 "OMIM:613857" MONDO:0013466 "UMLS:C3151222" MONDO:0013466 "DOID:0080406" +MONDO:0032923 "OMIM:618800" MONDO:0014540 "Orphanet:88661" MONDO:0014540 "OMIM:616221" MONDO:0014540 "Orphanet:100031" MONDO:0014540 "UMLS:C4015557" -MONDO:0014540 "ICD10:K00.5" MONDO:0014540 "DOID:0110064" MONDO:0001060 "UMLS:C0349530" MONDO:0001060 "DOID:10541" @@ -35928,7 +35083,7 @@ MONDO:0007976 "GARD:0007313" MONDO:0019032 "Orphanet:67045" MONDO:0019032 "OMIM:300123" MONDO:0019032 "UMLS:C1848068" -MONDO:0019032 "ICD10:E23.0" +MONDO:0019032 "ICD10CM:E23.0" MONDO:0021383 "SCTID:126799003" MONDO:0021383 "NCIT:C4401" MONDO:0021383 "UMLS:C0345538" @@ -35938,13 +35093,12 @@ MONDO:0001214 "DOID:11184" MONDO:0001214 "ICD9:372.00" MONDO:0001214 "SCTID:53726008" MONDO:0001214 "NCIT:C35195" -MONDO:0001214 "ICD10:H10.02" MONDO:0011119 "Orphanet:98634" MONDO:0011119 "DOID:0050786" MONDO:0016523 "MESH:D001994" MONDO:0016523 "GARD:0001025" MONDO:0016523 "HP:0100730" -MONDO:0016523 "ICD10:J98.4" +MONDO:0016523 "ICD10CM:J98.4" MONDO:0016523 "Orphanet:2357" MONDO:0016523 "MedDRA:10064585" MONDO:0020186 "Orphanet:98596" @@ -35971,18 +35125,18 @@ MONDO:0002839 "DOID:4023" MONDO:0018171 "OMIM:603737" MONDO:0018171 "UMLS:C0346180" MONDO:0018171 "DOID:2155" +MONDO:0018171 "ICD10CM:C56" MONDO:0018171 "SCTID:254869000" MONDO:0018171 "Orphanet:35807" -MONDO:0018171 "ICD10:C56" MONDO:0018171 "NCIT:C4514" MONDO:0022785 "GARD:0001387" MONDO:0007128 "MESH:C562461" MONDO:0007128 "UMLS:C0234906" MONDO:0007128 "OMIM:106500" MONDO:0007128 "SCTID:200920000" +MONDO:0017925 "ICD10CM:D84.8" MONDO:0017925 "Orphanet:324294" MONDO:0017925 "UMLS:CN714013" -MONDO:0017925 "ICD10:D84.8" MONDO:0004601 "EFO:0007068" MONDO:0004601 "ICD9:707.13" MONDO:0004601 "SCTID:419193008" @@ -36006,8 +35160,8 @@ MONDO:0017279 "Orphanet:2828" MONDO:0017279 "OMIM:606852" MONDO:0017279 "Orphanet:391411" MONDO:0017279 "OMIM:600116" +MONDO:0017279 "ICD10CM:G20" MONDO:0017279 "OMIM:300557" -MONDO:0017279 "ICD10:G20" MONDO:0017279 "SCTID:715345007" MONDO:0054691 "UMLS:C4540380" MONDO:0054691 "OMIM:617765" @@ -36017,7 +35171,7 @@ MONDO:0005346 "ICD9:574.20" MONDO:0005346 "EFO:0004210" MONDO:0016913 "Orphanet:262119" MONDO:0016913 "GARD:0001746" -MONDO:0016913 "ICD10:Q93.5" +MONDO:0016913 "ICD10CM:Q93.5" MONDO:0016913 "MESH:C538038" MONDO:0025691 "OMIM:619291" MONDO:0009102 "UMLS:C1857285" @@ -36025,28 +35179,24 @@ MONDO:0009102 "MESH:C565630" MONDO:0009102 "OMIM:222350" MONDO:0008722 "GARD:0004822" MONDO:0008722 "Orphanet:26792" -MONDO:0008722 "ICD10:E71.3" +MONDO:0008722 "ICD10CM:E71.3" MONDO:0008722 "DOID:0080154" -MONDO:0008722 "ICD10:E71.312" MONDO:0008722 "NCIT:C84539" MONDO:0008722 "MESH:C537596" MONDO:0008722 "OMIM:201470" +MONDO:0008722 "ICD10CM:E71.312" MONDO:0022509 "GARD:0009221" -MONDO:0042487 "ICD10CM:D06.9" MONDO:0042487 "DOID:8991" MONDO:0042487 "NCIT:C4000" MONDO:0042487 "ICD9:233.1" MONDO:0042487 "UMLS:C0851140" -MONDO:0042487 "ICD10:D06" -MONDO:0042487 "ICD10:D06.9" MONDO:0042487 "MESH:D018290" MONDO:0042487 "SCTID:254889004" -MONDO:0042487 "ICD10CM:D06" HP:0030082 "UMLS:C4022657" MONDO:0001622 "SCTID:21783006" MONDO:0001622 "DOID:13037" -MONDO:0001622 "ICD10:H02.22" MONDO:0001622 "ICD9:374.22" +MONDO:0001622 "ICD10CM:H02.22" MONDO:0001622 "UMLS:C0155198" MONDO:0020812 "UMLS:C0011406" MONDO:0020812 "MESH:D003789" @@ -36055,7 +35205,7 @@ MONDO:0007525 "UMLS:C1851801" MONDO:0007525 "NCIT:C125701" MONDO:0007525 "Orphanet:99876" MONDO:0007525 "GARD:0002084" -MONDO:0007525 "ICD10:Q79.6" +MONDO:0007525 "ICD10CM:Q79.6" MONDO:0007525 "Orphanet:1899" MONDO:0007525 "Orphanet:99875" MONDO:0007525 "SCTID:4170004" @@ -36087,7 +35237,7 @@ MONDO:0006787 "UMLS:C0206672" MONDO:0006787 "ICD9:709.8" MONDO:0006787 "NCIT:C3760" MONDO:0007861 "OMIM:148800" -MONDO:0007861 "ICD10:Q75.0" +MONDO:0007861 "ICD10CM:Q75.0" MONDO:0007861 "SCTID:254022009" MONDO:0007861 "MESH:C536884" MONDO:0007861 "GARD:0003115" @@ -36105,7 +35255,7 @@ MONDO:0008605 "GARD:0005288" MONDO:0008605 "UMLS:C2931238" MONDO:0010870 "Orphanet:609" MONDO:0010870 "DOID:0111078" -MONDO:0010870 "ICD10:G71.0" +MONDO:0010870 "ICD10CM:G71.0" MONDO:0010870 "OMIM:600334" MONDO:0010870 "UMLS:C1450052" MONDO:0010870 "UMLS:C1838244" @@ -36123,15 +35273,15 @@ MONDO:0002375 "ICDO:8410/0" MONDO:0043069 "GARD:0000338" MONDO:0043069 "MESH:C536724" MONDO:0043069 "UMLS:C2931301" -MONDO:0017400 "ICD10:Q45.8" MONDO:0017400 "Orphanet:293864" +MONDO:0017400 "ICD10CM:Q45.8" MONDO:0017400 "OMIM:615710" MONDO:0017400 "UMLS:C2748662" CL:1000281 "FMA:15681" MONDO:0011287 "MESH:C536789" MONDO:0011287 "GARD:0009506" +MONDO:0011287 "ICD10CM:Q87.8" MONDO:0011287 "OMIM:603116" -MONDO:0011287 "ICD10:Q87.8" MONDO:0011287 "SCTID:720812002" MONDO:0011287 "Orphanet:85199" MONDO:0012361 "OMIM:609903" @@ -36148,7 +35298,6 @@ MONDO:0003777 "DOID:6119" MONDO:0003777 "NCIT:C4528" NCBITaxon:52564 "GC_ID:1" MONDO:0032702 "OMIM:618362" -MONDO:0018841 "ICD10:K76.8" MONDO:0018841 "EFO:0009039" MONDO:0018841 "DOID:0050674" MONDO:0018841 "UMLS:CN239183" @@ -36167,29 +35316,29 @@ MONDO:0000437 "GARD:0012060" MONDO:0000437 "SCTID:85102008" MONDO:0017058 "Orphanet:268337" MONDO:0017058 "GARD:0012452" -MONDO:0017058 "ICD10:G60.0" MONDO:0017058 "UMLS:CN202416" +MONDO:0017058 "ICD10CM:G60.0" MONDO:0015746 "OMIM:613958" +MONDO:0015746 "ICD10CM:N46" MONDO:0015746 "GARD:0012502" MONDO:0015746 "DOID:0111156" -MONDO:0015746 "ICD10:N46" MONDO:0015746 "Orphanet:171709" MONDO:0015746 "OMIM:102530" NCBITaxon:15957 "GC_ID:1" MONDO:0005751 "UMLS:C0032238" +MONDO:0005751 "ICD10CM:B33.0" MONDO:0005751 "ICD9:074.1" MONDO:0005751 "SCTID:83264000" MONDO:0005751 "MESH:D011000" -MONDO:0005751 "ICD10:B33.0" MONDO:0005751 "DOID:10882" MONDO:0005751 "EFO:0007259" MONDO:0009493 "OMIM:245100" -MONDO:0009493 "ICD10:G60.2" MONDO:0009493 "UMLS:C0796136" MONDO:0009493 "Orphanet:1399" MONDO:0009493 "MESH:C535674" MONDO:0009493 "SCTID:715415005" MONDO:0009493 "GARD:0008423" +MONDO:0009493 "ICD10CM:G60.2" MONDO:0020796 "OMIM:180860" MONDO:0010590 "Orphanet:93932" MONDO:0010590 "Orphanet:323" @@ -36201,7 +35350,6 @@ MONDO:0009408 "OMIM:240000" MONDO:0010967 "OMIM:600974" MONDO:0010967 "UMLS:C1832978" MONDO:0010967 "DOID:0110520" -MONDO:0010967 "ICD10:H90.3" MONDO:0010967 "MESH:C563417" HP:0011442 "UMLS:C4023354" MONDO:0019696 "OMIM:602875" @@ -36225,10 +35373,8 @@ MONDO:0009337 "Orphanet:2136" MONDO:0004992 "SCTID:363346000" MONDO:0004992 "GARD:0011960" MONDO:0004992 "DOID:0050687" -MONDO:0004992 "ICD10:C80" MONDO:0004992 "MESH:D009369" MONDO:0004992 "DOID:0050686" -MONDO:0004992 "ICD10:C80.1" MONDO:0004992 "ICDO:8000/3" MONDO:0004992 "UMLS:C0006826" MONDO:0004992 "ICD9:199.1" @@ -36239,9 +35385,10 @@ MONDO:0004992 "ICD9:199" MONDO:0004992 "ONCOTREE:MT" MONDO:0004992 "EFO:0000311" MONDO:0004992 "DOID:162" +MONDO:0004992 "ICD10CM:C76-C80" MONDO:0007640 "SCTID:193410003" +MONDO:0007640 "ICD10CM:H35.5" MONDO:0007640 "DOID:0090114" -MONDO:0007640 "ICD10:H35.5" MONDO:0007640 "Orphanet:59181" MONDO:0007640 "OMIM:264420" MONDO:0007640 "GARD:0010511" @@ -36261,14 +35408,14 @@ NCBITaxon:1678 "PMID:11594590" NCBITaxon:1678 "PMID:8573484" NCBITaxon:1678 "GC_ID:11" MONDO:0025294 "MESH:D017282" -MONDO:0018507 "ICD10:G60.0" +MONDO:0018507 "ICD10CM:G60.0" MONDO:0018507 "UMLS:CN237512" MONDO:0018507 "Orphanet:423894" MONDO:0001091 "NCIT:C5493" MONDO:0001091 "DOID:10655" MONDO:0001091 "UMLS:C0940607" -MONDO:0017791 "ICD10:Q78.0" MONDO:0017791 "UMLS:CN203741" +MONDO:0017791 "ICD10CM:Q78.0" MONDO:0017791 "Orphanet:314029" MONDO:0008325 "SCTID:238840009" MONDO:0008325 "OMIM:177350" @@ -36281,27 +35428,25 @@ MONDO:0005682 "ICD9:485" MONDO:0005682 "SCTID:396285007" MONDO:0005682 "DOID:12375" MONDO:0005682 "EFO:0007184" -MONDO:0005682 "ICD10:J18.0" MONDO:0029138 "OMIM:618141" MONDO:0013351 "GARD:0010995" MONDO:0013351 "OMIM:613668" -MONDO:0013351 "ICD10:Q04.3" +MONDO:0013351 "ICD10CM:Q04.3" MONDO:0013351 "Orphanet:402364" MONDO:0013351 "UMLS:C3150921" MONDO:0013351 "DOID:0111262" MONDO:0017769 "Orphanet:310050" HP:0000370 "UMLS:C1861141" -MONDO:0016515 "ICD10:Q24.8" MONDO:0016515 "Orphanet:2326" MONDO:0016515 "UMLS:CN201538" +MONDO:0016515 "ICD10CM:Q24.8" MONDO:0020178 "Orphanet:98587" MONDO:0003608 "UMLS:C1744705" MONDO:0003608 "DOID:5723" MONDO:0003608 "Orphanet:98673" -MONDO:0003608 "ICD10:H47.2" -MONDO:0003608 "ICD10:H47.20" MONDO:0003608 "MESH:D009896" MONDO:0003608 "UMLS:C0029124" +MONDO:0003608 "ICD10CM:H47.2" MONDO:0003608 "ICD9:377.1" MONDO:0003608 "NCIT:C34863" MONDO:0003608 "ICD9:377.10" @@ -36316,6 +35461,7 @@ MONDO:0002493 "UMLS:C1332139" MONDO:0002493 "NCIT:C5596" MONDO:0002493 "DOID:3024" MONDO:0024637 "SCTID:269469005" +MONDO:0024637 "ICD10CM:C45-C49" MONDO:0024637 "NCIT:C4867" MONDO:0032631 "OMIM:618248" NCBITaxon:91347 "PMID:27620848" @@ -36329,98 +35475,97 @@ MONDO:0008996 "SCTID:721847002" MONDO:0008996 "DOID:0111589" MONDO:0008996 "MESH:C536430" MONDO:0008996 "UMLS:C1857662" -MONDO:0008996 "ICD10:Q04.3" +MONDO:0008996 "ICD10CM:Q04.3" MONDO:0008996 "Orphanet:1454" MONDO:0008996 "OMIM:216360" MONDO:0008996 "GARD:0001410" -MONDO:0013234 "Orphanet:681" -MONDO:0013234 "MESH:C567635" -MONDO:0013234 "UMLS:C2750061" -MONDO:0013234 "OMIM:613345" MONDO:0010011 "NCIT:C99056" -MONDO:0010011 "ICD10:Q04.6" MONDO:0010011 "GARD:0000166" +MONDO:0010011 "ICD10CM:Q04.6" MONDO:0010011 "OMIM:269160" MONDO:0010011 "Orphanet:799" MONDO:0010011 "SCTID:253159001" MONDO:0010011 "ICD9:742.4" +MONDO:0013234 "Orphanet:681" +MONDO:0013234 "MESH:C567635" +MONDO:0013234 "UMLS:C2750061" +MONDO:0013234 "OMIM:613345" MONDO:0014792 "OMIM:616833" MONDO:0014792 "UMLS:C4085250" -MONDO:0012211 "GARD:0009832" -MONDO:0012211 "DOID:0080558" -MONDO:0012211 "OMIM:609180" +MONDO:0012211 "MESH:C535744" MONDO:0012211 "SCTID:724096007" MONDO:0012211 "UMLS:C1836669" MONDO:0012211 "Orphanet:79323" +MONDO:0012211 "GARD:0009832" +MONDO:0012211 "ICD10CM:E77.8" MONDO:0012211 "NCIT:C126872" -MONDO:0012211 "MESH:C535744" -MONDO:0012211 "ICD10:E77.8" -MONDO:0018373 "ICD10:M87.0" -MONDO:0018373 "ICD10:M87.1" +MONDO:0012211 "DOID:0080558" +MONDO:0012211 "OMIM:609180" +MONDO:0018373 "ICD10CM:M87.2" MONDO:0018373 "SCTID:397758007" -MONDO:0018373 "ICD10:M87.9" +MONDO:0018373 "ICD10CM:M87.3" +MONDO:0018373 "ICD10CM:M87.8" +MONDO:0018373 "ICD10CM:M87.9" MONDO:0018373 "Orphanet:399164" -MONDO:0018373 "ICD10:M87.2" -MONDO:0018373 "ICD10:M87.8" -MONDO:0018373 "ICD10:M87.3" +MONDO:0018373 "ICD10CM:M87.0" MONDO:0018373 "NCIT:C34841" -MONDO:0001427 "ICD10:K31.82" +MONDO:0018373 "ICD10CM:M87.1" MONDO:0001427 "UMLS:C0341217" MONDO:0001427 "ICD9:537.84" MONDO:0001427 "SCTID:109558001" MONDO:0001427 "GARD:0010930" MONDO:0001427 "DOID:12070" +MONDO:0001427 "ICD10CM:K31.82" NCBITaxon:5039 "GC_ID:1" MONDO:0016736 "NCIT:C129431" MONDO:0016736 "UMLS:C4331262" MONDO:0016736 "Orphanet:251975" MONDO:0016736 "UMLS:CN201984" -MONDO:0020399 "ICD10:Q23.2" MONDO:0020399 "UMLS:C3165203" MONDO:0020399 "SCTID:449270002" +MONDO:0020399 "ICD10CM:Q23.2" MONDO:0020399 "Orphanet:99058" MONDO:0020399 "ICD9:746.89" MONDO:0013836 "Orphanet:280406" MONDO:0013836 "OMIM:614650" -MONDO:0013836 "ICD10:N04.8" +MONDO:0013836 "ICD10CM:N04.8" MONDO:0013836 "DOID:0070243" MONDO:0013836 "UMLS:C3553349" HP:0004377 "SNOMEDCT_US:269475001" HP:0004377 "UMLS:C0376545" HP:0004377 "SNOMEDCT_US:129154003" HP:0004377 "MSH:D019337" -MONDO:0018936 "MESH:D018215" +MONDO:0018936 "ICD10CM:D16.8" +MONDO:0018936 "DOID:0060098" +MONDO:0018936 "ICD10CM:D16.0" +MONDO:0018936 "ICD10CM:D16.3" +MONDO:0018936 "Orphanet:58040" +MONDO:0018936 "MedDRA:10004430" MONDO:0018936 "NCIT:C3294" -MONDO:0018936 "ICD10:D16.4" +MONDO:0018936 "EFO:1000410" +MONDO:0018936 "ICD10CM:D16.6" +MONDO:0018936 "ICD10CM:D16.1" MONDO:0018936 "ICDO:9200/0" -MONDO:0018936 "ICD10:D16.5" +MONDO:0018936 "ICD10CM:D16.7" MONDO:0018936 "HP:0011846" +MONDO:0018936 "MESH:D018215" MONDO:0018936 "UMLS:C0029417" -MONDO:0018936 "Orphanet:58040" -MONDO:0018936 "MedDRA:10004430" -MONDO:0018936 "ICD10:D16.7" -MONDO:0018936 "EFO:1000410" -MONDO:0018936 "ICD10:D16.8" -MONDO:0018936 "ICD10:D16.3" -MONDO:0018936 "DOID:0060098" -MONDO:0018936 "ICD10:D16.6" -MONDO:0018936 "ICD10:D16.0" -MONDO:0018936 "ICD10:D16.1" +MONDO:0018936 "ICD10CM:D16.4" +MONDO:0018936 "ICD10CM:D16.5" MONDO:0044792 "SCTID:398696001" MONDO:0044792 "UMLS:C1842036" MONDO:0044792 "OMIM:137550" MONDO:0044792 "Orphanet:626" MONDO:0044792 "DOID:0111359" MONDO:0044792 "MedDRA:10072036" +MONDO:0044792 "ICD10CM:Q82.5" MONDO:0044792 "NCIT:C3944" -MONDO:0044792 "ICD10:Q82.5" MONDO:0044792 "ONCOTREE:SKCN" MONDO:0044792 "UMLS:C1318558" MONDO:0004803 "DOID:9499" MONDO:0004803 "UMLS:C0263662" MONDO:0004803 "SCTID:423486005" MONDO:0004803 "ICD9:710.8" -MONDO:0013613 "ICD10:H35.5" MONDO:0013613 "DOID:0110118" MONDO:0013613 "OMIM:614186" MONDO:0013613 "Orphanet:65" @@ -36435,18 +35580,17 @@ MONDO:0011452 "OMIM:604379" MONDO:0011452 "MESH:C536973" MONDO:0008495 "MESH:D010981" MONDO:0008495 "DOID:2223" +MONDO:0008495 "ICD10CM:D69.1" MONDO:0008495 "OMIM:185050" MONDO:0008495 "EFO:1001112" MONDO:0008495 "SCTID:234474009" MONDO:0008495 "GARD:0005034" MONDO:0008495 "Orphanet:734" -MONDO:0008495 "ICD10:D69.1" MONDO:0015998 "OMIM:225100" MONDO:0015998 "SCTID:74969002" MONDO:0015998 "DOID:0111148" MONDO:0015998 "MESH:C536184" MONDO:0015998 "OMIM:225200" -MONDO:0015998 "ICD10:Q12.1" MONDO:0015998 "GARD:0012251" MONDO:0015998 "Orphanet:1885" MONDO:0015998 "PMID:20141359" @@ -36467,20 +35611,20 @@ MONDO:0003942 "DOID:6606" MONDO:0003942 "NCIT:C27889" MONDO:0003942 "UMLS:C1333405" MONDO:0044675 "Orphanet:498481" +MONDO:0012854 "ICD10CM:Q87.0" MONDO:0012854 "OMIM:612290" MONDO:0012854 "UMLS:C2676772" -MONDO:0012854 "ICD10:Q87.0" MONDO:0012854 "Orphanet:140963" MONDO:0012854 "MESH:C567359" MONDO:0017318 "MESH:C537894" +MONDO:0017318 "ICD10CM:Q85.8" MONDO:0017318 "Orphanet:2875" MONDO:0017318 "SCTID:403545005" -MONDO:0017318 "ICD10:Q85.8" MONDO:0017318 "ICD9:709.09" MONDO:0017318 "GARD:0004312" MONDO:0015044 "Orphanet:100024" MONDO:0015044 "ICD9:273.2" -MONDO:0015044 "ICD10:C88.2" +MONDO:0015044 "ICD10CM:C88.2" MONDO:0015044 "NCIT:C3892" MONDO:0015044 "DOID:0060128" MONDO:0015044 "SCTID:61493004" @@ -36488,6 +35632,7 @@ MONDO:0010440 "GARD:0003775" MONDO:0010440 "OMIM:300830" MONDO:0019507 "OMIM:615887" MONDO:0019507 "OMIM:204650" +MONDO:0019507 "ICD10CM:K00.5" MONDO:0019507 "GARD:0005791" MONDO:0019507 "OMIM:613211" MONDO:0019507 "OMIM:104510" @@ -36503,7 +35648,6 @@ MONDO:0019507 "OMIM:130900" MONDO:0019507 "OMIM:612529" MONDO:0019507 "OMIM:204700" MONDO:0019507 "SCTID:78494001" -MONDO:0019507 "ICD10:K00.5" MONDO:0019507 "OMIM:617217" MONDO:0019507 "OMIMPS:104500" MONDO:0019507 "DOID:2187" @@ -36513,8 +35657,8 @@ MONDO:0019507 "ICD9:520.5" MONDO:0024357 "SCTID:104831000119109" MONDO:0024357 "UMLS:C3662033" NCBITaxon:58262 "GC_ID:1" -MONDO:0017223 "ICD10:E75.2" MONDO:0017223 "Orphanet:280224" +MONDO:0017223 "ICD10CM:E75.2" MONDO:0008104 "DOID:0060578" MONDO:0008104 "GARD:0007223" MONDO:0008104 "UMLS:C0028326" @@ -36529,11 +35673,11 @@ MONDO:0018781 "ICD9:759.89" MONDO:0018781 "SCTID:2625009" MONDO:0018781 "OMIM:148210" MONDO:0018781 "Orphanet:477" -MONDO:0018781 "ICD10:Q80.8" MONDO:0018781 "OMIMPS:148210" MONDO:0018781 "UMLS:CN205136" MONDO:0018781 "GARD:0003113" MONDO:0018781 "OMIM:602540" +MONDO:0018781 "ICD10CM:Q80.8" MONDO:0010896 "SCTID:392133001" MONDO:0010896 "UMLS:C1271398" MONDO:0010896 "OMIM:600510" @@ -36544,15 +35688,13 @@ MONDO:0010896 "GARD:0004356" MONDO:0020635 "ICDO:9530/3" MONDO:0020635 "ONCOTREE:ANM" MONDO:0020635 "NCIT:C4051" -MONDO:0011842 "ICD10:G31.0" MONDO:0011842 "OMIM:607485" -MONDO:0011842 "UMLS:C0282513" MONDO:0011842 "Orphanet:282" +MONDO:0011842 "UMLS:C0282513" MONDO:0011842 "Orphanet:100070" MONDO:0011842 "DOID:0060672" MONDO:0018759 "UMLS:CN776870" MONDO:0018759 "Orphanet:466921" -MONDO:0016485 "ICD10:H35.5" MONDO:0016485 "OMIM:276902" MONDO:0016485 "DOID:0110828" MONDO:0016485 "NCIT:C126329" @@ -36560,15 +35702,15 @@ MONDO:0016485 "OMIM:500004" MONDO:0016485 "Orphanet:231183" MONDO:0016485 "OMIM:614504" MONDO:0016485 "GARD:0005442" +MONDO:0016485 "ICD10CM:H35.5" MONDO:0016485 "UMLS:C1568248" -MONDO:0004909 "ICD10:N34.0" -MONDO:0004909 "ICD9:597.0" MONDO:0004909 "SCTID:444820005" +MONDO:0004909 "ICD9:597.0" MONDO:0004909 "DOID:9877" MONDO:0019861 "Orphanet:95720" MONDO:0019861 "OMIM:218700" MONDO:0019861 "MedDRA:10065938" -MONDO:0019861 "ICD10:E03.1" +MONDO:0019861 "ICD10CM:E03.1" MONDO:0019861 "OMIM:225250" MONDO:0015265 "DOID:2799" MONDO:0015265 "SCTID:40100001" @@ -36580,36 +35722,35 @@ MONDO:0015265 "HP:0011946" MONDO:0015265 "NCIT:C62580" MONDO:0015265 "Orphanet:1303" MONDO:0015265 "EFO:0007183" -MONDO:0015265 "ICD10:J44.8" MONDO:0008599 "EFO:1001219" MONDO:0008599 "MedDRA:10044652" MONDO:0008599 "ICD9:350.1" -MONDO:0008599 "ICD10:G50.0" MONDO:0008599 "MESH:D014277" MONDO:0008599 "DOID:12098" MONDO:0008599 "SCTID:31681005" MONDO:0008599 "Orphanet:221091" MONDO:0008599 "GARD:0007805" +MONDO:0008599 "ICD10CM:G50.0" MONDO:0008599 "UMLS:C0040997" MONDO:0008599 "OMIM:190400" MONDO:0033621 "OMIM:619042" -MONDO:0016211 "ICD10:C67.6" -MONDO:0016211 "ICD10:C67.2" -MONDO:0016211 "ICD10:C67.7" -MONDO:0016211 "ICD10:C67.4" -MONDO:0016211 "ICD10:C67.3" -MONDO:0016211 "ICD10:C67.0" +MONDO:0016211 "ICD10CM:C67.9" +MONDO:0016211 "ICD10CM:C67.1" +MONDO:0016211 "ICD10CM:C67.6" +MONDO:0016211 "ICD10CM:C67.7" MONDO:0016211 "UMLS:CN200968" -MONDO:0016211 "ICD10:C67.5" MONDO:0016211 "Orphanet:209989" -MONDO:0016211 "ICD10:C67.1" -MONDO:0016211 "ICD10:C67.8" -MONDO:0016211 "ICD10:C67.9" +MONDO:0016211 "ICD10CM:C67.0" +MONDO:0016211 "ICD10CM:C67.4" +MONDO:0016211 "ICD10CM:C67.5" +MONDO:0016211 "ICD10CM:C67.2" +MONDO:0016211 "ICD10CM:C67.3" +MONDO:0016211 "ICD10CM:C67.8" MONDO:0018664 "SCTID:78250005" MONDO:0018664 "ICD9:746.87" MONDO:0018664 "MESH:D054083" MONDO:0018664 "Orphanet:448270" -MONDO:0018664 "ICD10:Q24.8" +MONDO:0018664 "ICD10CM:Q24.8" MONDO:0018664 "NCIT:C111643" MONDO:0018664 "HP:0001683" CL:1000708 "KUPO:0001119" @@ -36623,8 +35764,8 @@ MONDO:0013201 "MESH:C567680" MONDO:0013201 "DOID:0110954" MONDO:0013201 "OMIM:613265" MONDO:0032883 "OMIM:618725" -MONDO:0015473 "ICD10:Q87.8" MONDO:0015473 "Orphanet:1548" +MONDO:0015473 "ICD10CM:Q87.8" MONDO:0015473 "UMLS:CN199616" MONDO:0015473 "GARD:0000860" MONDO:0020028 "Orphanet:98052" @@ -36632,7 +35773,7 @@ MONDO:0020028 "UMLS:C1504369" MONDO:0007735 "OMIM:143000" MONDO:0007735 "Orphanet:91413" MONDO:0007735 "UMLS:C1840475" -MONDO:0007735 "ICD10:G90.2" +MONDO:0007735 "ICD10CM:G90.2" MONDO:0007735 "MESH:C564178" MONDO:0007735 "HP:0006837" NCBITaxon:6029 "PMID:12142484" @@ -36647,7 +35788,6 @@ MONDO:0044224 "OMIM:117800" NCBITaxon:10405 "GC_ID:1" MONDO:0017652 "Orphanet:306753" MONDO:0017652 "UMLS:CN203543" -MONDO:0014603 "ICD10:H90.3" MONDO:0014603 "OMIM:616357" MONDO:0014603 "DOID:0110566" MONDO:0014603 "UMLS:C4084708" @@ -36655,7 +35795,7 @@ MONDO:0016194 "Orphanet:209182" MONDO:0018163 "OMIM:219200" MONDO:0018163 "OMIM:278250" MONDO:0018163 "GARD:0001638" -MONDO:0018163 "ICD10:Q82.8" +MONDO:0018163 "ICD10CM:Q82.8" MONDO:0018163 "Orphanet:357058" MONDO:0018163 "DOID:0070134" MONDO:0015777 "UMLS:CN226738" @@ -36663,10 +35803,10 @@ MONDO:0015777 "Orphanet:177101" MONDO:0024639 "NCIT:C27443" MONDO:0024639 "UMLS:C3274137" MONDO:0016851 "Orphanet:261519" -MONDO:0016851 "ICD10:Q99.8" +MONDO:0016851 "ICD10CM:Q99.8" PO:0000037 "PO_GIT:234" MONDO:0020343 "Orphanet:98910" -MONDO:0020343 "ICD10:G71.8" +MONDO:0020343 "ICD10CM:G71.8" MONDO:0005418 "EFO:0004686" MONDO:0006976 "SCTID:253006001" MONDO:0006976 "ICDO:8156/1" @@ -36676,13 +35816,13 @@ MONDO:0006976 "MedDRA:10041329" MONDO:0006976 "MESH:D013005" MONDO:0006976 "Orphanet:97283" MONDO:0006976 "GARD:0004900" -MONDO:0006976 "ICD10:E16.8" +MONDO:0006976 "ICD10CM:E16.8" MONDO:0006976 "DOID:4430" MONDO:0006976 "EFO:1001187" MONDO:0006976 "NCIT:C3379" MONDO:0007618 "UMLS:C2931545" MONDO:0007618 "OMIM:135950" -MONDO:0007618 "ICD10:Q87.1" +MONDO:0007618 "ICD10CM:Q87.1" MONDO:0007618 "Orphanet:1937" MONDO:0023062 "GARD:0002109" MONDO:0003721 "UMLS:C1335747" @@ -36691,12 +35831,13 @@ MONDO:0003721 "DOID:5983" MONDO:0021446 "NCIT:C4606" MONDO:0021446 "SCTID:92089006" MONDO:0021446 "UMLS:C0347236" +MONDO:0008191 "OMIM:167960" MONDO:0014709 "OMIM:616617" MONDO:0014709 "DOID:0080624" MONDO:0014709 "UMLS:C4225267" MONDO:0100352 "DOID:0090053" -MONDO:0100352 "ICD10:G24.8" MONDO:0100352 "SCTID:609221008" +MONDO:0100352 "ICD10CM:G24.8" MONDO:0100352 "Orphanet:98809" MONDO:0100352 "OMIM:128200" MONDO:0100352 "OMIM:611031" @@ -36711,11 +35852,11 @@ MONDO:0001429 "UMLS:C0152083" MONDO:0001429 "DOID:12084" MONDO:0001429 "NCIT:C35761" MONDO:0016381 "MESH:C538389" +MONDO:0016381 "ICD10CM:Q84.2" MONDO:0016381 "SCTID:201163007" MONDO:0016381 "OMIM:307150" MONDO:0016381 "GARD:0002865" MONDO:0016381 "OMIM:145701" -MONDO:0016381 "ICD10:Q84.2" MONDO:0016381 "Orphanet:2222" MONDO:0016381 "OMIM:145700" MONDO:0008169 "UMLS:C1833688" @@ -36735,25 +35876,23 @@ MONDO:0012717 "UMLS:C2673648" MONDO:0012717 "OMIM:611718" MONDO:0012717 "Orphanet:34527" MONDO:0012717 "MESH:C567127" -MONDO:0012717 "ICD10:E83.4" MONDO:0012717 "DOID:0060882" MONDO:0004805 "ICD9:288" MONDO:0004805 "DOID:9500" MONDO:0004805 "SCTID:54097007" MONDO:0004805 "UMLS:C0023510" MONDO:0004805 "MESH:D007960" -MONDO:0004805 "ICD10:D72.9" MONDO:0004805 "ICD9:288.9" MONDO:0003075 "DOID:4650" MONDO:0003075 "UMLS:C0854914" MONDO:0003075 "NCIT:C8713" -MONDO:0022826 "GARD:0001479" MONDO:0004406 "NCIT:C27402" MONDO:0004406 "UMLS:C1332195" MONDO:0004406 "DOID:7945" +MONDO:0022826 "GARD:0001479" MONDO:0001763 "DOID:1363" -MONDO:0001763 "ICD10:C31.1" MONDO:0001763 "NCIT:C3541" +MONDO:0001763 "ICD10CM:C31.1" MONDO:0001763 "UMLS:C0153477" MONDO:0001763 "ICD9:160.3" MONDO:0001763 "SCTID:363426009" @@ -36784,11 +35923,11 @@ MONDO:0007534 "MedDRA:10050344" MONDO:0007534 "UMLS:C0004903" MONDO:0007534 "OMIM:130650" MONDO:0007534 "MESH:D001506" +MONDO:0007534 "ICD10CM:Q87.3" MONDO:0007534 "NCIT:C34415" MONDO:0007534 "DOID:5572" MONDO:0007534 "SCTID:81780002" MONDO:0007534 "ICD9:759.89" -MONDO:0007534 "ICD10:Q87.3" HP:0002354 "UMLS:C0751295" HP:0002354 "UMLS:C0542476" HP:0002354 "UMLS:C0233794" @@ -36804,11 +35943,11 @@ MONDO:0020740 "Orphanet:238468" MONDO:0020740 "OMIM:300291" NCBITaxon:7952 "GC_ID:1" MONDO:0019570 "Orphanet:90321" +MONDO:0019570 "ICD10CM:Q87.8" MONDO:0019570 "UMLS:C0751038" MONDO:0019570 "GARD:0001420" MONDO:0019570 "NCIT:C135726" MONDO:0019570 "OMIM:216400" -MONDO:0019570 "ICD10:Q87.8" MONDO:0019570 "OMIM:133540" MONDO:0019570 "Orphanet:191" MONDO:0019570 "Orphanet:90322" @@ -36822,13 +35961,13 @@ MONDO:0014597 "OMIM:616345" MONDO:0008660 "DOID:0050948" MONDO:0008660 "UMLS:C0342642" MONDO:0008660 "OMIM:193100" -MONDO:0008660 "ICD10:E83.3" +MONDO:0008660 "ICD10CM:E83.3" MONDO:0008660 "SCTID:237889002" MONDO:0008660 "MESH:C562791" MONDO:0008660 "Orphanet:89937" MONDO:0001560 "SCTID:48644003" +MONDO:0001560 "ICD10CM:Q40.0" MONDO:0001560 "EFO:0004707" -MONDO:0001560 "ICD10:Q40.0" MONDO:0001560 "NCIT:C98952" MONDO:0001560 "ICD9:750.5" MONDO:0001560 "MESH:D046248" @@ -36842,7 +35981,6 @@ MONDO:0005847 "UMLS:C0026069" MONDO:0005847 "SCTID:28295001" MONDO:0005847 "DOID:2810" MONDO:0001950 "UMLS:C0155135" -MONDO:0001950 "ICD10:H18.71" MONDO:0001950 "DOID:1436" MONDO:0001950 "ICD9:371.71" MONDO:0001950 "SCTID:14748007" @@ -36854,55 +35992,54 @@ MONDO:0032662 "OMIM:618295" MONDO:0011257 "ICD9:277.6" MONDO:0011257 "OMIM:602579" MONDO:0011257 "Orphanet:79319" +MONDO:0011257 "ICD10CM:E77.8" MONDO:0011257 "SCTID:124668009" MONDO:0011257 "DOID:0080554" -MONDO:0011257 "ICD10:E77.8" MONDO:0011257 "GARD:0009830" MONDO:0011257 "MESH:C535740" MONDO:0012203 "Orphanet:424" MONDO:0012203 "MESH:C563786" MONDO:0012203 "OMIM:609152" -MONDO:0012203 "ICD10:E05.8" MONDO:0012203 "GARD:0002858" MONDO:0012203 "UMLS:C1836706" +MONDO:0012203 "ICD10CM:E05.8" MONDO:0010042 "UMLS:C1849139" MONDO:0010042 "OMIM:270600" MONDO:0010042 "MESH:C537481" MONDO:0010042 "GARD:0004911" MONDO:0001176 "UMLS:C0023308" MONDO:0001176 "DOID:110" +MONDO:0001176 "ICD10CM:H25-H28" MONDO:0001176 "ICD9:379.39" MONDO:0001176 "NCIT:C26812" -MONDO:0001176 "ICD10:H27.9" MONDO:0001176 "MESH:D007905" MONDO:0001176 "SCTID:10810001" -MONDO:0001176 "ICD10:H25-H28" MONDO:0006451 "GARD:0011952" MONDO:0006451 "ONCOTREE:THYC" +MONDO:0006451 "ICD10CM:C37" MONDO:0006451 "NCIT:C7569" MONDO:0006451 "ICDO:8586/3" MONDO:0006451 "MedDRA:10061031" MONDO:0006451 "DOID:4554" MONDO:0006451 "SCTID:444374006" -MONDO:0006451 "ICD10:C37" MONDO:0006451 "UMLS:CN207411" MONDO:0006451 "EFO:1000576" MONDO:0006451 "Orphanet:99868" MONDO:0006451 "DOID:3284" MONDO:0006451 "UMLS:C1322286" MONDO:0006451 "UMLS:C0205969" -MONDO:0009968 "Orphanet:18" -MONDO:0009968 "OMIM:267300" -MONDO:0009968 "ICD9:389.8" MONDO:0009968 "UMLS:C0403554" -MONDO:0009968 "UMLS:C4302514" +MONDO:0009968 "Orphanet:93611" +MONDO:0009968 "OMIM:267300" +MONDO:0009968 "Orphanet:18" MONDO:0009968 "MESH:C562897" MONDO:0009968 "SCTID:236532003" +MONDO:0009968 "Orphanet:402041" MONDO:0009968 "ICD9:588.89" +MONDO:0009968 "UMLS:C4302514" +MONDO:0009968 "ICD9:389.8" MONDO:0009968 "SCTID:722468005" MONDO:0009968 "GARD:0004666" -MONDO:0009968 "Orphanet:93611" -MONDO:0009968 "Orphanet:402041" MONDO:0008881 "GARD:0010149" MONDO:0008881 "Orphanet:1801" MONDO:0008881 "UMLS:C0432239" @@ -36910,8 +36047,8 @@ MONDO:0008881 "MESH:C538128" MONDO:0008881 "OMIM:211350" MONDO:0008881 "SCTID:254096001" MONDO:0008881 "ICD9:733.29" +MONDO:0014206 "ICD10CM:J84.0" MONDO:0014206 "Orphanet:440427" -MONDO:0014206 "ICD10:J84.0" MONDO:0014206 "UMLS:C4225400" MONDO:0014206 "Orphanet:370088" MONDO:0014206 "OMIM:615486" @@ -36919,32 +36056,31 @@ MONDO:0013436 "UMLS:C3151138" MONDO:0013436 "OMIM:613809" MONDO:0013436 "DOID:0110360" MONDO:0013436 "Orphanet:791" -MONDO:0013436 "ICD10:H35.5" +MONDO:0021019 "ICD10CM:E70.3" MONDO:0021019 "NCIT:C118785" MONDO:0021019 "SCTID:78642008" MONDO:0021019 "OMIM:300500" -MONDO:0021019 "ICD10:E70.3" MONDO:0021019 "MESH:C537863" MONDO:0021019 "GARD:0008471" MONDO:0021019 "Orphanet:54" MONDO:0021019 "UMLS:C0342684" MONDO:0021019 "ICD9:270.2" -MONDO:0017184 "Orphanet:276575" -MONDO:0017184 "OMIM:256450" -MONDO:0017184 "UMLS:C4274080" -MONDO:0017184 "UMLS:CN202625" -MONDO:0017184 "ICD10:E16.1" -MONDO:0017184 "SCTID:717046003" MONDO:0010735 "SCTID:230253001" MONDO:0010735 "UMLS:C1839259" MONDO:0010735 "NCIT:C85233" MONDO:0010735 "DOID:0060161" -MONDO:0010735 "ICD10:G12.2" MONDO:0010735 "MESH:D055534" MONDO:0010735 "MedDRA:10068600" +MONDO:0010735 "ICD10CM:G12.2" MONDO:0010735 "Orphanet:481" MONDO:0010735 "GARD:0006818" MONDO:0010735 "OMIM:313200" +MONDO:0017184 "Orphanet:276575" +MONDO:0017184 "OMIM:256450" +MONDO:0017184 "UMLS:C4274080" +MONDO:0017184 "UMLS:CN202625" +MONDO:0017184 "ICD10CM:E16.1" +MONDO:0017184 "SCTID:717046003" MONDO:0012309 "UMLS:C1865044" MONDO:0012309 "Orphanet:60015" MONDO:0012309 "MESH:C566510" @@ -36958,15 +36094,13 @@ MONDO:0010911 "DOID:5394" MONDO:0010911 "SCTID:134209002" MONDO:0010911 "MedDRA:10036832" MONDO:0010911 "Orphanet:2965" -MONDO:0010911 "ICD10:D35.2" MONDO:0010911 "ICDO:8271/0" MONDO:0010911 "MESH:D015175" MONDO:0010911 "EFO:1000496" -MONDO:0010911 "ICD10:E22.1" MONDO:0017841 "Orphanet:315350" MONDO:0017841 "UMLS:CN203818" MONDO:0017841 "DOID:0060039" -MONDO:0020091 "ICD10:N46" +MONDO:0020091 "ICD10CM:N46" MONDO:0020091 "Orphanet:98343" MONDO:0043969 "MESH:D020183" MONDO:0043969 "UMLS:C0393777" @@ -36974,7 +36108,7 @@ MONDO:0043969 "SCTID:230500006" MONDO:0043969 "EFO:1001772" MONDO:0009805 "Orphanet:216820" MONDO:0009805 "Orphanet:216804" -MONDO:0009805 "ICD10:Q78.0" +MONDO:0009805 "ICD10CM:Q78.0" MONDO:0009805 "Orphanet:216812" MONDO:0009805 "GARD:0010619" MONDO:0009805 "MESH:C564921" @@ -37002,44 +36136,43 @@ MONDO:0020310 "GARD:0013295" MONDO:0020310 "SCTID:764522009" MONDO:0013644 "GARD:0012434" MONDO:0013644 "Orphanet:284232" -MONDO:0013644 "ICD10:G60.0" +MONDO:0013644 "ICD10CM:G60.0" MONDO:0013644 "UMLS:C3280220" MONDO:0013644 "DOID:0110175" MONDO:0013644 "OMIM:614228" MONDO:0007892 "Orphanet:2658" +MONDO:0007892 "ICD10CM:Q87.1" MONDO:0007892 "MESH:C537115" -MONDO:0007892 "ICD10:Q87.1" MONDO:0007892 "DOID:0111507" MONDO:0007892 "OMIM:151050" MONDO:0007892 "GARD:0003223" MONDO:0009053 "ICD9:371.89" MONDO:0009053 "Orphanet:2962" -MONDO:0009053 "ICD10:Q82.8" MONDO:0009053 "DOID:0070132" -MONDO:0009053 "ICD10:Q87.8" MONDO:0009053 "Orphanet:35664" MONDO:0009053 "OMIM:219150" MONDO:0009053 "SCTID:59252009" +MONDO:0009053 "ICD10CM:Q87.8" MONDO:0012424 "OMIM:610157" MONDO:0014877 "UMLS:C4310754" MONDO:0014877 "OMIM:617030" MONDO:0017067 "UMLS:CN202426" MONDO:0017067 "Orphanet:268397" MONDO:0019956 "DOID:9588" -MONDO:0019956 "ICD10:A85" MONDO:0019956 "Orphanet:97275" MONDO:0019956 "ICD9:323.9" MONDO:0019956 "UMLS:C0014038" MONDO:0019956 "ICD9:323.8" +MONDO:0019956 "ICD10CM:A85" MONDO:0019956 "SCTID:45170000" MONDO:0019956 "NCIT:C26760" MONDO:0019956 "ICD9:323.0" MONDO:0019956 "MedDRA:10014581" MONDO:0019956 "MESH:D004660" -MONDO:0018013 "ICD10:N00.5" MONDO:0018013 "OMIM:614809" MONDO:0018013 "OMIM:609814" MONDO:0018013 "Orphanet:329918" +MONDO:0018013 "ICD10CM:N00.5" MONDO:0004797 "DOID:9473" MONDO:0004797 "ICD9:355.8" MONDO:0004797 "ICD9:355" @@ -37048,8 +36181,8 @@ MONDO:0014072 "SCTID:713401006" MONDO:0014072 "UMLS:C2746066" MONDO:0014072 "Orphanet:356978" MONDO:0014072 "ICD9:270.8" +MONDO:0014072 "ICD10CM:E72.8" MONDO:0014072 "DOID:0111619" -MONDO:0014072 "ICD10:E72.8" MONDO:0014072 "UMLS:C4076194" MONDO:0010128 "UMLS:C1848813" MONDO:0010128 "MESH:C536908" @@ -37060,8 +36193,8 @@ MONDO:0010128 "OMIM:274240" MONDO:0010128 "Orphanet:3327" MONDO:0011686 "Orphanet:99812" MONDO:0011686 "MESH:C564694" +MONDO:0011686 "ICD10CM:D81.1" MONDO:0011686 "OMIM:606593" -MONDO:0011686 "ICD10:D81.1" MONDO:0011686 "UMLS:C1847827" MONDO:0011686 "DOID:0060021" MONDO:0011686 "SCTID:724177005" @@ -37073,34 +36206,33 @@ CL:1000398 "BTO:000125" CL:1000398 "FMA:62911" MONDO:0018469 "Orphanet:411703" MONDO:0018469 "UMLS:CN237452" -MONDO:0018469 "ICD10:A31.0" MONDO:0018469 "GARD:0012829" MONDO:0013865 "OMIM:614702" MONDO:0013865 "UMLS:C3553529" MONDO:0013865 "DOID:0111480" +MONDO:0013865 "ICD10CM:I42.2" MONDO:0013865 "Orphanet:314637" -MONDO:0013865 "ICD10:I42.2" MONDO:0016055 "UMLS:CN200739" MONDO:0016055 "Orphanet:199639" MONDO:0019002 "UMLS:C0391826" -MONDO:0019002 "ICD10:Q04.8" MONDO:0019002 "GARD:0006901" MONDO:0019002 "NCIT:C8419" MONDO:0019002 "ICDO:9493/0" MONDO:0019002 "Orphanet:65285" +MONDO:0019002 "ICD10CM:Q04.8" MONDO:0019002 "OMIM:158350" -MONDO:0010538 "ICD10:Q87.5" MONDO:0010538 "UMLS:C2931060" MONDO:0010538 "Orphanet:2565" MONDO:0010538 "GARD:0004886" MONDO:0010538 "DOID:0110973" +MONDO:0010538 "ICD10CM:Q87.5" MONDO:0010538 "MESH:C535914" MONDO:0010538 "SCTID:733095006" MONDO:0010538 "OMIM:301940" MONDO:0015942 "ICD9:759.89" +MONDO:0015942 "ICD10CM:Q78.5" MONDO:0015942 "OMIMPS:305620" MONDO:0015942 "OMIM:305620" -MONDO:0015942 "ICD10:Q78.5" MONDO:0015942 "SCTID:62803002" MONDO:0015942 "GARD:0000826" MONDO:0015942 "Orphanet:1826" @@ -37111,7 +36243,7 @@ MONDO:0012290 "OMIM:609528" MONDO:0012290 "MESH:C537943" MONDO:0012290 "DOID:0060337" MONDO:0012290 "GARD:0009940" -MONDO:0012290 "ICD10:Q82.8" +MONDO:0012290 "ICD10CM:Q82.8" MONDO:0012290 "SCTID:722385008" MONDO:0012290 "Orphanet:66631" MONDO:0012290 "UMLS:C1836033" @@ -37123,20 +36255,18 @@ MONDO:0100213 "OMIM:308205" MONDO:0100213 "MESH:C536085" MONDO:0017457 "GARD:0012771" MONDO:0017457 "Orphanet:295006" -MONDO:0017457 "ICD10:Q69.2" +MONDO:0017457 "ICD10CM:Q69.2" MONDO:0017457 "SCTID:205132000" MONDO:0019360 "DOID:11103" MONDO:0019360 "Orphanet:83312" -MONDO:0019360 "ICD10:A79.1" MONDO:0019360 "MedDRA:10039137" MONDO:0019360 "SCTID:75096007" MONDO:0019360 "ICD9:083.2" MONDO:0019360 "UMLS:C0035597" -MONDO:0015296 "ICD10:Q28.8" MONDO:0015296 "UMLS:CN199246" +MONDO:0015296 "ICD10CM:Q28.8" MONDO:0015296 "Orphanet:137628" MONDO:0019887 "Orphanet:96106" -MONDO:0019887 "ICD10:Q92.3" MONDO:0019887 "SCTID:764459008" MONDO:0014930 "UMLS:C4310703" MONDO:0014930 "OMIM:617125" @@ -37151,7 +36281,7 @@ MONDO:0005284 "MESH:D020528" MONDO:0005284 "DOID:0050784" MONDO:0005284 "SCTID:230373008" MONDO:0005284 "EFO:0003840" -MONDO:0008510 "ICD10:Q74.8" +MONDO:0008510 "ICD10CM:Q74.8" MONDO:0008510 "SCTID:732955001" MONDO:0008510 "UMLS:C1861391" MONDO:0008510 "MESH:C566098" @@ -37164,7 +36294,7 @@ MONDO:0012173 "UMLS:CN074230" MONDO:0012173 "UMLS:C3711645" MONDO:0012173 "SCTID:726021008" MONDO:0012173 "Orphanet:5" -MONDO:0012173 "ICD10:E71.3" +MONDO:0012173 "ICD10CM:E71.3" MONDO:0012173 "NCIT:C129929" MONDO:0012173 "UMLS:CN239369" MONDO:0002166 "DOID:1988" @@ -37172,24 +36302,22 @@ MONDO:0002166 "NCIT:C5553" MONDO:0002166 "UMLS:C1335685" MONDO:0007137 "OMIM:107200" MONDO:0007137 "SCTID:230502003" +MONDO:0007137 "ICD10CM:Q07.8" MONDO:0007137 "Orphanet:88620" MONDO:0007137 "GARD:0009486" -MONDO:0007137 "ICD10:Q07.8" MONDO:0007137 "MESH:C535983" MONDO:0003240 "DOID:50" -MONDO:0003240 "ICD10:E00-E07" MONDO:0003240 "ICD9:246.8" -MONDO:0003240 "ICD10:E00.E07" +MONDO:0003240 "ICD10CM:E00-E07" MONDO:0003240 "UMLS:C0040128" MONDO:0003240 "ICD9:240-246.99" MONDO:0003240 "EFO:1000627" MONDO:0003240 "Wikipedia:Thyroid_disease" -MONDO:0003240 "ICD10:E07.9" MONDO:0003240 "ICD9:246.9" MONDO:0003240 "MESH:D013959" MONDO:0003240 "SCTID:14304000" MONDO:0003240 "NCIT:C26893" -MONDO:0007313 "ICD10:K13.0" +MONDO:0007313 "ICD10CM:K13.0" MONDO:0007313 "GARD:0000412" MONDO:0007313 "UMLS:C0267034" MONDO:0007313 "Orphanet:1221" @@ -37197,7 +36325,6 @@ MONDO:0007313 "SCTID:26374003" MONDO:0007313 "MESH:C535921" MONDO:0007313 "OMIM:118330" MONDO:0001800 "SCTID:82146006" -MONDO:0001800 "ICD10:H15.81" MONDO:0001800 "UMLS:C0155361" MONDO:0001800 "DOID:13788" MONDO:0001800 "ICD9:379.13" @@ -37206,11 +36333,11 @@ MONDO:0016698 "UMLS:CN201941" MONDO:0016698 "UMLS:C0014474" MONDO:0016698 "NCIT:C3017" MONDO:0016698 "MESH:D004806" -MONDO:0016698 "ICD10:D43.2" MONDO:0016698 "ONCOTREE:EPM" MONDO:0016698 "ICDO:9391/3" MONDO:0016698 "GARD:0006353" MONDO:0016698 "Orphanet:251636" +MONDO:0016698 "ICD10CM:D43.2" MONDO:0016698 "DOID:4844" MONDO:0014352 "OMIM:615812" MONDO:0014352 "UMLS:C4014361" @@ -37220,17 +36347,15 @@ MONDO:0018898 "UMLS:C1302772" MONDO:0018898 "NCIT:C7162" MONDO:0018898 "MedDRA:10051708" MONDO:0018898 "SCTID:400001003" -MONDO:0018703 "ICD10:Q89.0" +MONDO:0018703 "ICD10CM:Q89.0" MONDO:0018703 "Orphanet:457083" MONDO:0018703 "UMLS:CN242095" -MONDO:0019431 "ICD10:I81" MONDO:0019431 "Orphanet:854" MONDO:0019431 "MedDRA:10036206" MONDO:0014762 "UMLS:C4225217" MONDO:0014762 "OMIM:616749" MONDO:0004272 "ICD9:016.14" MONDO:0004272 "DOID:754" -MONDO:0004272 "ICD10:A18.12" MONDO:0004272 "UMLS:C0152793" MONDO:0004272 "SCTID:32268008" MONDO:0004272 "ICD9:016.1" @@ -37252,14 +36377,14 @@ MONDO:0006301 "ICDO:8191/0" MONDO:0006301 "UMLS:C1266045" MONDO:0006301 "ICDO:8325/0" MONDO:0008731 "MESH:C565976" +MONDO:0008731 "ICD10CM:E27.1" MONDO:0008731 "Orphanet:95700" MONDO:0008731 "OMIM:202150" MONDO:0008731 "UMLS:C1859978" -MONDO:0008731 "ICD10:E27.1" MONDO:0021198 "Orphanet:98053" MONDO:0021198 "UMLS:CN206953" +MONDO:0009242 "ICD10CM:Q79.6" MONDO:0009242 "GARD:0001019" -MONDO:0009242 "ICD10:Q79.6" MONDO:0009242 "Orphanet:90354" MONDO:0009242 "MESH:C536198" MONDO:0009242 "SCTID:719096006" @@ -37274,6 +36399,7 @@ MONDO:0023227 "MESH:C548014" MONDO:0024301 "DOID:0050032" MONDO:0008045 "OMIM:159950" MONDO:0008045 "DOID:0111527" +MONDO:0008045 "ICD10CM:G25.3" MONDO:0008045 "UMLS:C1834569" MONDO:0008045 "Orphanet:2590" MONDO:0008045 "GARD:0003875" @@ -37281,10 +36407,9 @@ MONDO:0008045 "GARD:0003044" MONDO:0008045 "MESH:C537563" MONDO:0008045 "ICD9:345.10" MONDO:0008045 "SCTID:703524005" -MONDO:0008045 "ICD10:G25.3" MONDO:0011118 "UMLS:C0349680" -MONDO:0011118 "ICD10:C95.0" MONDO:0011118 "Orphanet:98836" +MONDO:0011118 "ICD10CM:C95.0" MONDO:0011118 "NCIT:C6923" MONDO:0006429 "EFO:1000548" MONDO:0006429 "NCIT:C7295" @@ -37305,37 +36430,36 @@ MONDO:0004741 "SCTID:190694001" MONDO:0004741 "DOID:9275" MONDO:0004741 "UMLS:C0268483" MONDO:0004741 "NCIT:C98640" -MONDO:0004741 "ICD10:E70.21" MONDO:0004741 "MESH:D020176" +MONDO:0004741 "ICD10CM:E70.21" MONDO:0004741 "OMIMPS:276700" MONDO:0008230 "OMIM:170990" MONDO:0003544 "NCIT:C3381" MONDO:0003544 "ICD9:192.2" +MONDO:0003544 "ICD10CM:C72.0" MONDO:0003544 "SCTID:363475005" -MONDO:0003544 "ICD10:C72.0" MONDO:0003544 "UMLS:C0037930" MONDO:0003544 "DOID:5612" MONDO:0003544 "NCIT:C3572" MONDO:0003544 "UMLS:C0153646" MONDO:0020595 "NCIT:C27667" MONDO:0020595 "SCTID:734045002" +MONDO:0020595 "ICD10CM:K65-K68" MONDO:0021637 "UMLS:C1997217" MONDO:0021637 "NCIT:C132067" +MONDO:0011780 "OMIM:607134" +MONDO:0011780 "UMLS:C1846719" MONDO:0001130 "DOID:10813" MONDO:0001130 "UMLS:C1334921" MONDO:0001130 "NCIT:C6074" -MONDO:0011780 "OMIM:607134" -MONDO:0011780 "UMLS:C1846719" MONDO:0007033 "SCTID:398963001" MONDO:0007033 "GARD:0009482" MONDO:0007033 "OMIM:100200" MONDO:0007033 "DOID:10865" MONDO:0007033 "NCIT:C27592" MONDO:0007033 "ICD9:378.54" -MONDO:0007033 "ICD10:H49.2" MONDO:0006920 "UMLS:C0362046" MONDO:0006920 "MESH:D011236" -MONDO:0006920 "ICD10:R73.09" MONDO:0006920 "MedDRA:10065542" MONDO:0006920 "EFO:1001121" MONDO:0006920 "DOID:11716" @@ -37349,13 +36473,12 @@ MONDO:0004095 "GARD:0005877" MONDO:0004095 "MESH:D016393" MONDO:0015662 "UMLS:CN226721" MONDO:0015662 "Orphanet:166775" -MONDO:0006295 "ICD10:C64.C68" MONDO:0006295 "ICD9:189.9" -MONDO:0006295 "ICD10:C68.9" MONDO:0006295 "EFO:1000363" MONDO:0006295 "NCIT:C9297" MONDO:0006295 "SCTID:448233000" MONDO:0006295 "DOID:3996" +MONDO:0006295 "ICD10CM:C64-C68" NCBITaxon:84529 "GC_ID:1" NCBITaxon:27871 "GC_ID:1" HP:0001718 "EPCC:06.02.92" @@ -37368,39 +36491,38 @@ MONDO:0018319 "OMIM:615040" MONDO:0018319 "UMLS:CN228162" MONDO:0018319 "Orphanet:391384" MONDO:0018319 "UMLS:CN204967" +MONDO:0018319 "ICD10CM:M79.6" MONDO:0018319 "OMIM:615552" MONDO:0018319 "OMIM:615551" MONDO:0018319 "DOID:0111728" -MONDO:0018319 "ICD10:M79.6" MONDO:0018319 "GARD:0012684" MONDO:0018319 "OMIMPS:615040" MONDO:0025096 "UMLS:C0276241" MONDO:0025096 "SCTID:24043009" MONDO:0025096 "MESH:D008304" +MONDO:0018790 "Orphanet:477765" +MONDO:0018790 "UMLS:CN776855" MONDO:0001586 "GARD:0010335" MONDO:0001586 "OMIM:607015" MONDO:0001586 "OMIM:607014" MONDO:0001586 "NCIT:C85053" MONDO:0001586 "MedDRA:10056886" -MONDO:0001586 "ICD10:E76.0" MONDO:0001586 "Orphanet:579" MONDO:0001586 "OMIM:607016" MONDO:0001586 "SCTID:75610003" MONDO:0001586 "DOID:12802" -MONDO:0018790 "Orphanet:477765" -MONDO:0018790 "UMLS:CN776855" MONDO:0008113 "GARD:0002930" MONDO:0008113 "OMIM:164220" MONDO:0008113 "Orphanet:2353" MONDO:0008113 "MESH:C563509" MONDO:0008113 "SCTID:721902002" -MONDO:0008113 "ICD10:Q87.8" +MONDO:0008113 "ICD10CM:Q87.8" MONDO:0009671 "SCTID:764959000" MONDO:0009671 "GARD:0001358" +MONDO:0009671 "ICD10CM:Q87.8" MONDO:0009671 "MESH:C535458" MONDO:0009671 "UMLS:C1854663" MONDO:0009671 "Orphanet:3068" -MONDO:0009671 "ICD10:Q87.8" MONDO:0009671 "OMIM:253320" MONDO:0002532 "MESH:D018307" MONDO:0002532 "UMLS:C0206720" @@ -37416,6 +36538,7 @@ MONDO:0011851 "MESH:C564385" MONDO:0011851 "OMIM:607516" NCBITaxon:12663 "GC_ID:1" MONDO:0012719 "UMLS:C4303785" +MONDO:0012719 "ICD10CM:E75.2" MONDO:0012719 "SCTID:720864008" MONDO:0012719 "MESH:C567125" MONDO:0012719 "OMIM:611721" @@ -37423,19 +36546,18 @@ MONDO:0012719 "GARD:0012505" MONDO:0012719 "DOID:0111330" MONDO:0012719 "Orphanet:139406" MONDO:0012719 "UMLS:C2673635" -MONDO:0012719 "ICD10:E75.2" MONDO:0032688 "OMIM:618343" MONDO:0009515 "OMIM:245900" MONDO:0009515 "UMLS:CN205883" MONDO:0009515 "SCTID:238091006" -MONDO:0009515 "ICD10:E78.6" MONDO:0009515 "Orphanet:79293" MONDO:0009515 "NCIT:C84813" MONDO:0009515 "DOID:1391" MONDO:0009515 "GARD:0004011" MONDO:0009515 "SCTID:49227001" MONDO:0009515 "Orphanet:650" -MONDO:0010068 "ICD10:Q77.7" +MONDO:0009515 "ICD10CM:E78.6" +MONDO:0010068 "ICD10CM:Q77.7" MONDO:0010068 "SCTID:389161008" MONDO:0010068 "ICD9:756.9" MONDO:0010068 "NCIT:C129031" @@ -37462,7 +36584,7 @@ MONDO:0010937 "OMIM:600801" MONDO:0019666 "Orphanet:93282" MONDO:0019666 "OMIM:612847" MONDO:0019666 "SCTID:719172003" -MONDO:0019666 "ICD10:Q77.7" +MONDO:0019666 "ICD10CM:Q77.7" MONDO:0019666 "DOID:0050812" MONDO:0020950 "MESH:D015828" MONDO:0020950 "UMLS:C0015407" @@ -37470,25 +36592,21 @@ MONDO:0020950 "SCTID:312132001" MONDO:0001802 "DOID:13790" MONDO:0001802 "SCTID:297009" MONDO:0001802 "UMLS:C0155460" -MONDO:0001802 "ICD10:H73.009" -MONDO:0001802 "ICD10:H73.0" MONDO:0001802 "ICD9:384.00" -MONDO:0001802 "ICD10:H73.00" MONDO:0000633 "DOID:0060096" MONDO:0006536 "SCTID:284449005" MONDO:0006536 "OMIMPS:608594" MONDO:0006536 "DOID:0050585" MONDO:0006536 "EFO:1000681" MONDO:0006536 "HP:0009059" -MONDO:0009912 "MESH:C564870" -MONDO:0009912 "OMIM:264120" -MONDO:0009912 "UMLS:C1849698" HP:0000668 "MSH:D000848" HP:0000668 "UMLS:C0020608" HP:0000668 "SNOMEDCT_US:64969001" +MONDO:0009912 "MESH:C564870" +MONDO:0009912 "OMIM:264120" +MONDO:0009912 "UMLS:C1849698" MONDO:0018039 "DOID:0050222" MONDO:0018039 "GARD:0012547" -MONDO:0018039 "ICD10:D80.4" MONDO:0018039 "ICD9:279.02" MONDO:0018039 "Orphanet:331235" MONDO:0018039 "SCTID:190980000" @@ -37500,8 +36618,8 @@ MONDO:0007931 "GARD:0010301" MONDO:0007931 "SCTID:763387005" MONDO:0007931 "UMLS:C0339510" MONDO:0007931 "Orphanet:1243" +MONDO:0007931 "ICD10CM:H35.5" MONDO:0007931 "OMIM:153700" -MONDO:0007931 "ICD10:H35.5" MONDO:0007931 "GARD:0000182" MONDO:0032924 "OMIM:618801" MONDO:0021048 "UMLS:C0024897" @@ -37509,11 +36627,9 @@ MONDO:0021048 "NCIT:C9303" MONDO:0021048 "SCTID:404171008" MONDO:0021048 "UMLS:C2242987" MONDO:0021048 "NCIT:C3217" -MONDO:0021048 "ICD10:D47.0" MONDO:0021048 "DOID:4658" MONDO:0001061 "ICD9:151.1" MONDO:0001061 "DOID:10544" -MONDO:0001061 "ICD10:C16.4" MONDO:0001061 "SCTID:187736009" MONDO:0001061 "UMLS:C0153418" PO:0009007 "PO_GIT:59" @@ -37521,22 +36637,22 @@ MONDO:0012770 "OMIM:611959" MONDO:0012770 "UMLS:C2677771" MONDO:0012770 "MESH:C567447" MONDO:0012770 "Orphanet:1331" -MONDO:0019033 "ICD10:Q82.8" MONDO:0019033 "ICD9:757.39" MONDO:0019033 "SCTID:51603000" MONDO:0019033 "UMLS:C0263417" MONDO:0019033 "GARD:0001643" MONDO:0019033 "Orphanet:671" +MONDO:0019033 "ICD10CM:Q82.8" MONDO:0016524 "Orphanet:235832" MONDO:0015968 "Orphanet:183628" MONDO:0015968 "UMLS:CN200567" MONDO:0020187 "Orphanet:98597" MONDO:0003617 "NCIT:C40118" MONDO:0003617 "UMLS:C0269041" -MONDO:0003617 "ICD10:N70.11" MONDO:0003617 "SCTID:55551005" MONDO:0003617 "DOID:5731" -MONDO:0016914 "ICD10:Q93.5" +MONDO:0003617 "ICD10CM:N70.11" +MONDO:0016914 "ICD10CM:Q93.5" MONDO:0016914 "Orphanet:262128" MONDO:0001365 "DOID:11783" MONDO:0001365 "ICD9:385.24" @@ -37549,23 +36665,23 @@ MONDO:0003218 "DOID:4943" MONDO:0009103 "OMIM:222400" MONDO:0009103 "MESH:C565629" MONDO:0009103 "Orphanet:2140" +MONDO:0014157 "ICD10CM:E34.8" MONDO:0014157 "GARD:0010989" MONDO:0014157 "OMIM:615381" -MONDO:0014157 "ICD10:E34.8" MONDO:0014157 "UMLS:C3715192" MONDO:0014157 "Orphanet:363649" MONDO:0019900 "Orphanet:96160" -MONDO:0019900 "ICD10:Q93.5" +MONDO:0019900 "ICD10CM:Q93.5" MONDO:0023563 "GARD:0003134" MONDO:0023563 "MESH:C537025" +MONDO:0023563 "OMIM:203285" MONDO:0023563 "UMLS:C2931399" HP:0000035 "UMLS:C0266423" HP:0000035 "SNOMEDCT_US:55631001" -MONDO:0011630 "OMIM:606068" MONDO:0011630 "GARD:0010394" +MONDO:0011630 "OMIM:606068" MONDO:0011630 "DOID:0110365" MONDO:0011630 "UMLS:C1419614" -MONDO:0011630 "ICD10:H35.5" MONDO:0007190 "Orphanet:67038" MONDO:0007190 "OMIM:109543" MONDO:0100415 "NCIT:C126748" @@ -37574,14 +36690,14 @@ MONDO:0015512 "UMLS:C0598428" MONDO:0015512 "Orphanet:156629" MONDO:0019254 "Orphanet:79224" MONDO:0019254 "DOID:653" -MONDO:0019254 "ICD10:E79.1" +MONDO:0019254 "ICD10CM:E79.9" MONDO:0019254 "MedDRA:10037546" -MONDO:0019254 "MESH:D011686" +MONDO:0019254 "ICD10CM:E79.1" MONDO:0019254 "ICD9:277.2" -MONDO:0019254 "ICD10:E79.8" +MONDO:0019254 "MESH:D011686" +MONDO:0019254 "ICD10CM:E79.8" +MONDO:0019254 "ICD10CM:E79.0" MONDO:0019254 "UMLS:C0034139" -MONDO:0019254 "ICD10:E79.9" -MONDO:0019254 "ICD10:E79.0" MONDO:0024965 "UMLS:C0026851" MONDO:0024965 "MESH:D009137" MONDO:0001436 "GARD:0006595" @@ -37590,39 +36706,39 @@ MONDO:0001436 "NCIT:C82892" MONDO:0001436 "MESH:D006486" MONDO:0001436 "SCTID:39011001" MONDO:0001436 "DOID:12119" -MONDO:0003405 "UMLS:C0280796" -MONDO:0003405 "DOID:5349" -MONDO:0003405 "NCIT:C6285" +MONDO:0007339 "ICD10CM:Q87.8" MONDO:0007339 "Orphanet:1997" -MONDO:0007339 "ICD10:Q87.8" MONDO:0007339 "MESH:C536188" MONDO:0007339 "DOID:0080344" MONDO:0007339 "SCTID:717911008" MONDO:0007339 "OMIMPS:119580" MONDO:0007339 "UMLS:C1861536" +MONDO:0007339 "OMIM:119580" MONDO:0007339 "GARD:0002071" +MONDO:0003405 "UMLS:C0280796" +MONDO:0003405 "DOID:5349" +MONDO:0003405 "NCIT:C6285" MONDO:0004812 "DOID:952" -MONDO:0004812 "ICD10:H04.01" MONDO:0004812 "SCTID:2589008" MONDO:0004812 "ICD9:375.01" MONDO:0004812 "UMLS:C0149505" MONDO:0020605 "DOID:0080012" MONDO:0010716 "SCTID:763462004" -MONDO:0010716 "ICD10:Q79.8" MONDO:0010716 "UMLS:C1839440" MONDO:0010716 "OMIM:312150" MONDO:0010716 "Orphanet:79447" MONDO:0010716 "GARD:0004573" MONDO:0010716 "MESH:C564072" +MONDO:0010716 "ICD10CM:Q79.8" MONDO:0006460 "MESH:D013955" MONDO:0006460 "SCTID:39462005" MONDO:0006460 "Orphanet:489" MONDO:0006460 "ICD9:759.2" MONDO:0006460 "NCIT:C85189" MONDO:0006460 "EFO:1000585" -MONDO:0017401 "ICD10:I42.8" MONDO:0017401 "OMIM:107970" MONDO:0017401 "UMLS:CN203145" +MONDO:0017401 "ICD10CM:I42.8" MONDO:0017401 "Orphanet:293888" MONDO:0017401 "OMIM:610193" CL:1000282 "FMA:17518" @@ -37630,33 +36746,32 @@ MONDO:0009977 "MESH:C537209" MONDO:0009977 "ICD9:759.89" MONDO:0009977 "UMLS:C1849409" MONDO:0009977 "OMIM:267750" -MONDO:0009977 "ICD10:Q15.8" MONDO:0009977 "GARD:0000380" MONDO:0009977 "Orphanet:1571" MONDO:0009977 "SCTID:703542000" +MONDO:0009977 "ICD10CM:Q15.8" MONDO:0008723 "NCIT:C98647" MONDO:0008723 "UMLS:C3887523" -MONDO:0008723 "ICD10:E71.310" MONDO:0008723 "SCTID:237997005" MONDO:0008723 "DOID:0080155" +MONDO:0008723 "ICD10CM:E71.3" +MONDO:0008723 "ICD10CM:E71.310" MONDO:0008723 "GARD:0005508" MONDO:0008723 "OMIM:201475" -MONDO:0008723 "ICD10:E71.3" MONDO:0008723 "Orphanet:26793" MONDO:0001794 "UMLS:C0030759" +MONDO:0001794 "ICD10CM:B85.3" MONDO:0001794 "ICD9:132.2" MONDO:0001794 "SCTID:71011005" MONDO:0001794 "DOID:13760" MONDO:0001794 "NCIT:C35777" -MONDO:0001794 "ICD10:B85.3" MONDO:0007697 "OMIM:139800" MONDO:0020813 "NCIT:C6522" MONDO:0001623 "UMLS:C0155199" MONDO:0001623 "DOID:13038" MONDO:0001623 "ICD9:374.23" -MONDO:0001623 "ICD10:H02.21" +MONDO:0001623 "ICD10CM:H02.21" MONDO:0001623 "HP:0030004" -MONDO:0007526 "ICD10:Q79.6" MONDO:0007526 "Orphanet:75496" MONDO:0007526 "UMLS:C1869122" MONDO:0007526 "DOID:0050802" @@ -37664,23 +36779,25 @@ MONDO:0007526 "SCTID:720861000" MONDO:0007526 "OMIM:615349" MONDO:0007526 "MESH:C536201" MONDO:0007526 "GARD:0009991" +MONDO:0007526 "ICD10CM:Q79.6" +MONDO:0007526 "OMIM:130070" MONDO:0024332 "SCTID:446096008" MONDO:0024332 "NCIT:C92189" MONDO:0024332 "UMLS:C0035457" -MONDO:0012927 "GARD:0003738" -MONDO:0012927 "ICD10:Q93.5" -MONDO:0012927 "UMLS:C4274528" +MONDO:0012927 "SCTID:716515000" +MONDO:0012927 "ICD10CM:Q93.5" MONDO:0012927 "OMIM:612530" +MONDO:0012927 "UMLS:C2675857" +MONDO:0012927 "Orphanet:250999" +MONDO:0012927 "GARD:0003738" MONDO:0012927 "Orphanet:2162" MONDO:0012927 "DOID:0060412" -MONDO:0012927 "Orphanet:250999" -MONDO:0012927 "UMLS:C2675857" -MONDO:0012927 "SCTID:716515000" +MONDO:0012927 "UMLS:C4274528" MONDO:0004311 "DOID:7632" MONDO:0004311 "UMLS:C1516284" MONDO:0004311 "NCIT:C39864" +MONDO:0020083 "ICD10CM:D47.9" MONDO:0020083 "UMLS:CN206985" -MONDO:0020083 "ICD10:D47.9" MONDO:0020083 "Orphanet:98290" MONDO:0054724 "OMIM:617593" MONDO:0054724 "DOID:0070166" @@ -37694,19 +36811,18 @@ MONDO:0019516 "UMLS:C4072980" MONDO:0019516 "OMIM:613310" MONDO:0019516 "SCTID:232063007" MONDO:0019516 "OMIM:605750" -MONDO:0019516 "UMLS:C1851402" MONDO:0019516 "MESH:C580083" +MONDO:0019516 "UMLS:C1851402" MONDO:0019516 "OMIM:601813" -MONDO:0019516 "ICD10:H35.00" MONDO:0019516 "DOID:0050535" MONDO:0019516 "OMIM:133780" MONDO:0019516 "OMIM:305390" MONDO:0019516 "GARD:0001613" -MONDO:0019516 "ICD10:H35.0" +MONDO:0019516 "ICD10CM:H35.0" MONDO:0018842 "EFO:1000491" -MONDO:0018842 "ICD10:C83.8" MONDO:0018842 "ICDO:9678/3" MONDO:0018842 "NCIT:C6915" +MONDO:0018842 "ICD10CM:C83.8" MONDO:0018842 "GARD:0009247" MONDO:0018842 "Orphanet:48686" MONDO:0018842 "ONCOTREE:PEL" @@ -37738,16 +36854,16 @@ MONDO:0015240 "OMIM:126050" MONDO:0015240 "UMLS:CN197602" MONDO:0015240 "Orphanet:1146" MONDO:0015240 "GARD:0000787" -MONDO:0015240 "ICD10:Q68.8" MONDO:0015240 "OMIM:616266" +MONDO:0015240 "ICD10CM:Q68.8" MONDO:0015240 "UMLS:C1852085" MONDO:0015240 "UMLS:C0220662" MONDO:0015240 "OMIM:108120" MONDO:0012362 "MESH:C563690" MONDO:0012362 "Orphanet:154" MONDO:0012362 "UMLS:C1835928" -MONDO:0012362 "ICD10:I42.0" MONDO:0012362 "DOID:0110439" +MONDO:0012362 "ICD10CM:I42.0" MONDO:0012362 "OMIM:609909" MONDO:0020797 "MESH:D003665" MONDO:0020797 "UMLS:C0011119" @@ -37778,12 +36894,11 @@ MONDO:0005798 "UMLS:C0078911" MONDO:0017928 "Orphanet:324313" MONDO:0017928 "SCTID:764725008" MONDO:0017928 "UMLS:CN204067" -MONDO:0017928 "ICD10:Q93.5" +MONDO:0017928 "ICD10CM:Q93.5" MONDO:0012620 "OMIM:611100" MONDO:0012620 "MESH:C567011" MONDO:0012620 "UMLS:C1970192" MONDO:0005819 "ICD9:012.32" -MONDO:0005819 "ICD10:A15.5" MONDO:0005819 "SCTID:70341005" MONDO:0005819 "ICD9:012.3" MONDO:0005819 "EFO:0007337" @@ -37798,9 +36913,9 @@ HP:0002145 "UMLS:C0338451" HP:0002145 "SNOMEDCT_US:230270009" HP:0002145 "MSH:D057180" MONDO:0009338 "UMLS:C1856128" -MONDO:0009338 "ICD10:K76.5" MONDO:0009338 "GARD:0010083" MONDO:0009338 "SCTID:724361001" +MONDO:0009338 "ICD10CM:K76.5" MONDO:0009338 "MESH:C537257" MONDO:0009338 "OMIM:235550" MONDO:0009338 "Orphanet:79124" @@ -37815,7 +36930,6 @@ MONDO:0004993 "NCIT:C2916" MONDO:0004993 "ICDO:8011/3" MONDO:0004993 "MESH:D009375" NCBITaxon:64279 "GC_ID:1" -MONDO:0001215 "ICD10:B48.2" MONDO:0001215 "DOID:11186" MONDO:0001215 "SCTID:80936003" MONDO:0001215 "UMLS:C0153285" @@ -37826,15 +36940,15 @@ MONDO:0025135 "MESH:D014379" MONDO:0018172 "UMLS:C1334609" MONDO:0018172 "NCIT:C8053" MONDO:0018172 "Orphanet:35808" -MONDO:0018172 "ICD10:C56" +MONDO:0018172 "ICD10CM:C56" MONDO:0018172 "UMLS:CN204631" MONDO:0008326 "OMIM:177600" MONDO:0010591 "UMLS:C1844560" MONDO:0010591 "GARD:0012720" MONDO:0010591 "OMIM:305550" MONDO:0010591 "Orphanet:97232" -MONDO:0010591 "ICD10:G71.2" MONDO:0010591 "MESH:C564425" +MONDO:0010591 "ICD10CM:G71.2" MONDO:0022786 "GARD:0001388" MONDO:0009409 "OMIM:240150" MONDO:0100417 "NCIT:C146726" @@ -37852,7 +36966,7 @@ MONDO:0016390 "UMLS:C1832648" MONDO:0016390 "GARD:0002910" MONDO:0016390 "OMIM:307700" MONDO:0016390 "SCTID:725036000" -MONDO:0016390 "ICD10:E20.8" +MONDO:0016390 "ICD10CM:E20.8" MONDO:0016390 "DOID:0111387" MONDO:0016390 "OMIM:146200" MONDO:0016390 "OMIM:615361" @@ -37862,9 +36976,9 @@ MONDO:0016390 "OMIM:601198" MONDO:0016390 "OMIMPS:146200" MONDO:0007641 "OMIM:137000" MONDO:0030035 "OMIM:618877" +MONDO:0009767 "ICD10CM:E70.3" MONDO:0009767 "GARD:0000105" MONDO:0009767 "OMIM:257800" -MONDO:0009767 "ICD10:E70.3" MONDO:0009767 "SCTID:17827007" MONDO:0009767 "ICD9:759.89" MONDO:0009767 "Orphanet:2719" @@ -37893,22 +37007,21 @@ MONDO:0001092 "UMLS:C1333092" MONDO:0017792 "UMLS:CN203742" MONDO:0017792 "Orphanet:314034" MONDO:0017792 "SCTID:764703002" -MONDO:0017792 "ICD10:Q92.3" MONDO:0005683 "DOID:11077" -MONDO:0005683 "ICD10:A23.8" +MONDO:0005683 "ICD10CM:A23.8" +MONDO:0005683 "ICD10CM:A23.2" MONDO:0005683 "SCTID:75702008" -MONDO:0005683 "ICD10:A23.1" -MONDO:0005683 "ICD10:A23.3" +MONDO:0005683 "ICD10CM:A23.1" MONDO:0005683 "MESH:D002006" -MONDO:0005683 "ICD10:A23.0" -MONDO:0005683 "ICD10:A23.2" -MONDO:0005683 "ICD10:A23" MONDO:0005683 "MedDRA:10006500" MONDO:0005683 "Orphanet:1304" MONDO:0005683 "GARD:0005966" MONDO:0005683 "ICD9:023.9" +MONDO:0005683 "ICD10CM:A23" MONDO:0005683 "UMLS:C0006309" -MONDO:0005683 "ICD10:A23.9" +MONDO:0005683 "ICD10CM:A23.3" +MONDO:0005683 "ICD10CM:A23.9" +MONDO:0005683 "ICD10CM:A23.0" MONDO:0005683 "ICD9:023" MONDO:0005683 "EFO:0007185" MONDO:0005683 "NCIT:C84602" @@ -37919,7 +37032,7 @@ MONDO:0013352 "UMLS:CN204965" MONDO:0013352 "UMLS:C3150923" MONDO:0013352 "GARD:0012501" MONDO:0013352 "EFO:1001500" -MONDO:0013352 "ICD10:Q87.2" +MONDO:0013352 "ICD10CM:Q87.2" MONDO:0013352 "Orphanet:391372" MONDO:0013352 "DOID:0111331" HP:0002019 "MSH:D003248" @@ -37927,13 +37040,13 @@ HP:0002019 "UMLS:C0009806" HP:0002019 "SNOMEDCT_US:14760008" HP:0002019 "UMLS:C0237326" HP:0002019 "SNOMEDCT_US:225595004" +HP:0000707 "MSH:D009421" +HP:0000707 "UMLS:C0497552" +HP:0000707 "SNOMEDCT_US:88425004" MONDO:0019059 "Orphanet:68402" MONDO:0013614 "UMLS:C3280065" MONDO:0013614 "Orphanet:293958" MONDO:0013614 "OMIM:614187" -HP:0000707 "MSH:D009421" -HP:0000707 "UMLS:C0497552" -HP:0000707 "SNOMEDCT_US:88425004" MONDO:0003271 "ICD9:244.2" MONDO:0003271 "DOID:5083" MONDO:0003271 "UMLS:C0154159" @@ -37946,17 +37059,15 @@ MONDO:0006788 "EFO:1000968" MONDO:0006788 "ICD9:743.20" MONDO:0006788 "ICD9:743.2" MONDO:0006788 "DOID:11212" -MONDO:0006788 "ICD10:Q15.0" MONDO:0006788 "SCTID:204113001" MONDO:0007862 "OMIM:148820" MONDO:0007862 "Orphanet:896" +MONDO:0007862 "ICD10CM:E70.3" MONDO:0007862 "DOID:0110949" MONDO:0007862 "GARD:0005523" -MONDO:0007862 "ICD10:E70.3" MONDO:0007862 "Orphanet:3440" NCBITaxon:32525 "GC_ID:1" NCBITaxon:6178 "GC_ID:1" -MONDO:0006809 "ICD10:I66" MONDO:0006809 "ICD9:434.10" MONDO:0006809 "MESH:D020766" MONDO:0006809 "SCTID:75543006" @@ -37980,22 +37091,22 @@ MONDO:0010183 "Orphanet:79284" MONDO:0010183 "MESH:C564747" MONDO:0010183 "OMIM:277380" MONDO:0010183 "DOID:0050717" +MONDO:0010183 "ICD10CM:E72.1" MONDO:0010183 "Orphanet:26" -MONDO:0010183 "ICD10:E72.1" MONDO:0005870 "NCIT:C34838" MONDO:0005870 "ICD9:126.9" MONDO:0005870 "DOID:2790" MONDO:0005870 "UMLS:C0027528" MONDO:0005870 "MESH:D009332" -MONDO:0005870 "ICD10:B76.1" MONDO:0005870 "SCTID:36667009" MONDO:0005870 "EFO:0007390" +MONDO:0005870 "ICD10CM:B76.1" MONDO:0010012 "Orphanet:3143" +MONDO:0010012 "ICD10CM:E31.0" MONDO:0010012 "ICD9:258.8" MONDO:0010012 "NCIT:C129728" MONDO:0010012 "OMIM:269200" MONDO:0010012 "SCTID:83728000" -MONDO:0010012 "ICD10:E31.0" MONDO:0010012 "DOID:0050168" MONDO:0010012 "GARD:0007611" MONDO:0013235 "OMIM:613347" @@ -38017,7 +37128,7 @@ MONDO:0020799 "MESH:D018295" MONDO:0020799 "ICDO:8090/1" MONDO:0020799 "SCTID:127570002" MONDO:0020799 "NCIT:C3784" -MONDO:0013837 "ICD10:E88.8" +MONDO:0013837 "ICD10CM:E88.8" MONDO:0013837 "UMLS:C3553354" MONDO:0013837 "Orphanet:254898" MONDO:0013837 "DOID:0070239" @@ -38028,10 +37139,8 @@ MONDO:0002541 "NCIT:C4535" MONDO:0002541 "SCTID:254950006" MONDO:0018937 "NCIT:C84897" MONDO:0018937 "UMLS:C0086648" -MONDO:0018937 "ICD10:E76.22" MONDO:0018937 "GARD:0003807" MONDO:0018937 "SCTID:88393000" -MONDO:0018937 "ICD10:E76.2" MONDO:0018937 "UMLS:CN205330" MONDO:0018937 "NCIT:C84898" MONDO:0018937 "OMIM:252900" @@ -38045,13 +37154,12 @@ MONDO:0018937 "UMLS:C0026706" MONDO:0018937 "Orphanet:581" MONDO:0018937 "OMIM:252930" MONDO:0018937 "SCTID:41572006" +MONDO:0018937 "ICD10CM:E76.2" MONDO:0004804 "SCTID:86927009" MONDO:0004804 "ICD9:375.00" MONDO:0004804 "MESH:D003607" MONDO:0004804 "DOID:950" -MONDO:0004804 "ICD10:H04.00" MONDO:0004804 "ICD9:375.0" -MONDO:0004804 "ICD10:H04.0" MONDO:0004804 "NCIT:C26971" MONDO:0004804 "UMLS:C0155223" MONDO:0003778 "SCTID:234532001" @@ -38059,7 +37167,6 @@ MONDO:0003778 "SCTID:58606001" MONDO:0003778 "Orphanet:101997" MONDO:0003778 "ICD9:279.3" MONDO:0003778 "NCIT:C3131" -MONDO:0003778 "ICD10:D84.9" MONDO:0003778 "MESH:D007153" MONDO:0003778 "KEGG:05340" MONDO:0003778 "UMLS:C0021051" @@ -38086,10 +37193,9 @@ MONDO:0100164 "Orphanet:79134" MONDO:0100164 "DOID:0060639" MONDO:0100164 "SCTID:609565001" MONDO:0100164 "NCIT:C114902" -MONDO:0100164 "ICD10:P70.2" MONDO:0100164 "UMLS:C1853564" MONDO:0100164 "GARD:0010457" -MONDO:0017380 "ICD10:D12.6" +MONDO:0100164 "ICD10CM:P70.2" MONDO:0017380 "Orphanet:2929" MONDO:0017380 "OMIM:175050" MONDO:0017380 "UMLS:C0345893" @@ -38098,6 +37204,7 @@ MONDO:0017380 "NCIT:C7754" MONDO:0017380 "SCTID:9273005" MONDO:0017380 "GARD:0003065" MONDO:0017380 "OMIM:612242" +MONDO:0017380 "ICD10CM:D12.6" NCBITaxon:43741 "GC_ID:1" MONDO:0021994 "GARD:0005109" MONDO:0021994 "MESH:C535432" @@ -38111,8 +37218,8 @@ HP:0005541 "UMLS:C1853118" HP:0005541 "SNOMEDCT_US:89655007" HP:0005541 "MSH:C537592" MONDO:0007736 "OMIM:143020" +MONDO:0017224 "ICD10CM:E75.2" MONDO:0017224 "UMLS:CN202706" -MONDO:0017224 "ICD10:E75.2" MONDO:0017224 "Orphanet:280229" MONDO:0032729 "OMIM:618402" MONDO:0018782 "Orphanet:477647" @@ -38121,15 +37228,15 @@ MONDO:0014604 "DOID:0111251" MONDO:0014604 "OMIM:616361" MONDO:0014604 "UMLS:C4225353" MONDO:0014604 "Orphanet:411602" -MONDO:0021018 "ICD10:G71.0" MONDO:0021018 "UMLS:C3148763" MONDO:0021018 "DOID:0110305" MONDO:0021018 "GARD:0012528" MONDO:0021018 "OMIM:603511" MONDO:0021018 "MESH:C566370" MONDO:0021018 "Orphanet:34516" +MONDO:0021018 "ICD10CM:G71.0" MONDO:0021018 "UMLS:C3501858" -MONDO:0019862 "ICD10:Q24.1" +MONDO:0019862 "ICD10CM:Q24.1" MONDO:0019862 "MESH:D007979" MONDO:0019862 "MedDRA:10071015" MONDO:0019862 "NCIT:C111647" @@ -38145,27 +37252,25 @@ MONDO:0006977 "DOID:11997" MONDO:0006977 "UMLS:C0037859" MONDO:0006977 "MedDRA:10041490" MONDO:0006977 "NCIT:C120909" -MONDO:0006977 "ICD10:N50.3" +MONDO:0006977 "ICD10CM:N43.4" MONDO:0006977 "NCIT:C3865" MONDO:0006977 "SCTID:49263001" -MONDO:0006977 "ICD10:N43.4" MONDO:0006977 "EFO:1001189" MONDO:0006977 "ICD9:608.1" -MONDO:0006977 "ICD10:N43.40" MONDO:0006977 "MESH:D013088" MONDO:0007619 "DOID:0111357" MONDO:0007619 "SCTID:763748007" -MONDO:0007619 "ICD10:Q82.8" +MONDO:0007619 "ICD10CM:Q82.8" MONDO:0007619 "Orphanet:289465" MONDO:0007619 "OMIM:136000" MONDO:0007619 "GARD:0012550" MONDO:0007619 "MESH:C565010" MONDO:0033622 "OMIM:619044" MONDO:0014900 "OMIM:617072" +MONDO:0014900 "ICD10CM:G71.0" MONDO:0014900 "SCTID:725907002" MONDO:0014900 "Orphanet:424261" MONDO:0014900 "DOID:0110289" -MONDO:0014900 "ICD10:G71.0" MONDO:0014900 "UMLS:C4310731" MONDO:0011173 "Orphanet:71493" MONDO:0011173 "Orphanet:3318" @@ -38192,25 +37297,26 @@ MONDO:0002320 "DOID:2490" MONDO:0002320 "NCIT:C97172" MONDO:0017653 "Orphanet:306756" MONDO:0016195 "Orphanet:209185" +MONDO:0002494 "ICD10CM:F10-F19" MONDO:0002494 "MESH:D019966" MONDO:0002494 "DOID:303" MONDO:0002494 "NCIT:C92203" MONDO:0016852 "Orphanet:261524" -MONDO:0016852 "ICD10:Q99.8" +MONDO:0016852 "ICD10CM:Q99.8" +MONDO:0019571 "ICD10CM:Q82.8" MONDO:0019571 "SCTID:111388003" MONDO:0019571 "GARD:0001639" MONDO:0019571 "Orphanet:90348" MONDO:0019571 "UMLS:C0268350" -MONDO:0019571 "ICD10:Q82.8" MONDO:0019571 "MESH:C562627" MONDO:0019571 "OMIM:614434" MONDO:0019571 "OMIM:616603" MONDO:0019571 "OMIM:123700" MONDO:0019571 "DOID:0070142" +MONDO:0018374 "ICD10CM:M87.1" +MONDO:0018374 "ICD10CM:M87.3" +MONDO:0018374 "ICD10CM:M87.2" MONDO:0018374 "Orphanet:399169" -MONDO:0018374 "ICD10:M87.3" -MONDO:0018374 "ICD10:M87.2" -MONDO:0018374 "ICD10:M87.1" MONDO:0011658 "MESH:C565238" MONDO:0011658 "DOID:0060370" MONDO:0011658 "Orphanet:2828" @@ -38228,16 +37334,15 @@ MONDO:0008192 "OMIM:168000" MONDO:0008192 "GARD:0007324" MONDO:0008192 "Orphanet:29072" MONDO:0005848 "UMLS:C0152915" -MONDO:0005848 "ICD10:A19" MONDO:0005848 "ICD9:018.80" MONDO:0005848 "EFO:0007368" MONDO:0005848 "ICD9:018" MONDO:0005848 "ICD9:018.90" MONDO:0005848 "DOID:9861" MONDO:0005848 "SCTID:47604008" +MONDO:0005848 "ICD10CM:A19" MONDO:0005848 "MESH:D014391" MONDO:0005848 "UMLS:C0041321" -MONDO:0005848 "ICD10:A19.9" MONDO:0005848 "ICD9:018.9" MONDO:0005848 "NCIT:C35086" NCBITaxon:156300 "GC_ID:1" @@ -38245,12 +37350,12 @@ MONDO:0025066 "MESH:D004818" MONDO:0025066 "UMLS:C0014521" MONDO:0010220 "Orphanet:3471" MONDO:0010220 "ICD9:759.89" -MONDO:0010220 "ICD10:N46" MONDO:0010220 "MedDRA:10063689" MONDO:0010220 "OMIM:279000" MONDO:0010220 "GARD:0000341" MONDO:0010220 "SCTID:233666007" MONDO:0010220 "MESH:C536718" +MONDO:0010220 "ICD10CM:N46" MONDO:0010220 "UMLS:C0340037" MONDO:0044793 "GARD:0010412" MONDO:0044793 "NCIT:C27007" @@ -38273,22 +37378,22 @@ MONDO:0010899 "UMLS:C1838049" MONDO:0010899 "Orphanet:98784" MONDO:0010899 "DOID:0060682" MONDO:0010899 "OMIM:600513" -MONDO:0015999 "DOID:0060280" -MONDO:0015999 "UMLS:C4304832" +MONDO:0015999 "ICD10CM:E24.8" +MONDO:0015999 "SCTID:719274008" MONDO:0015999 "UMLS:C1864851" +MONDO:0015999 "Orphanet:189439" +MONDO:0015999 "UMLS:C4304832" +MONDO:0015999 "OMIM:610475" MONDO:0015999 "OMIM:614190" +MONDO:0015999 "GARD:0010906" MONDO:0015999 "OMIM:615830" -MONDO:0015999 "OMIM:610475" -MONDO:0015999 "SCTID:719274008" -MONDO:0015999 "ICD10:E24.8" -MONDO:0015999 "Orphanet:189439" +MONDO:0015999 "UMLS:CN200645" MONDO:0015999 "OMIMPS:610489" -MONDO:0015999 "NCIT:C131196" -MONDO:0015999 "GARD:0010906" MONDO:0015999 "OMIM:610489" +MONDO:0015999 "NCIT:C131196" MONDO:0015999 "MESH:C566472" +MONDO:0015999 "DOID:0060280" MONDO:0015999 "MESH:C566469" -MONDO:0015999 "UMLS:CN200645" MONDO:0011845 "OMIM:607498" MONDO:0006452 "NCIT:C6463" MONDO:0006452 "UMLS:C1335924" @@ -38298,9 +37403,9 @@ MONDO:0042497 "MESH:D015651" MONDO:0042497 "SCTID:26033009" MONDO:0009969 "MESH:C564849" MONDO:0009969 "Orphanet:1092" -MONDO:0009969 "ICD10:Q87.8" MONDO:0009969 "UMLS:C1849432" MONDO:0009969 "GARD:0004664" +MONDO:0009969 "ICD10CM:Q87.8" MONDO:0009969 "OMIM:267400" MONDO:0007535 "UMLS:C1851718" MONDO:0007535 "OMIM:130700" @@ -38312,7 +37417,6 @@ MONDO:0003943 "UMLS:C1708362" MONDO:0003943 "NCIT:C6997" MONDO:0003943 "DOID:6607" MONDO:0010736 "UMLS:C0265554" -MONDO:0010736 "ICD10:Q71.6" MONDO:0010736 "MESH:C564056" MONDO:0010736 "DOID:0090027" MONDO:0010736 "OMIM:313350" @@ -38323,7 +37427,7 @@ MONDO:0010912 "UMLS:C2748801" MONDO:0010912 "OMIM:600638" MONDO:0010912 "MESH:C567572" MONDO:0020092 "Orphanet:98345" -MONDO:0020092 "ICD10:N46" +MONDO:0020092 "ICD10CM:N46" MONDO:0020092 "UMLS:CN227777" MONDO:0017319 "DOID:2373" MONDO:0017319 "Orphanet:288" @@ -38331,9 +37435,9 @@ MONDO:0017319 "ICD9:282.1" MONDO:0017319 "UMLS:C0013902" MONDO:0017319 "SCTID:191169008" MONDO:0017319 "OMIM:130600" +MONDO:0017319 "ICD10CM:D58.1" MONDO:0017319 "OMIM:235370" MONDO:0017319 "GARD:0006621" -MONDO:0017319 "ICD10:D58.1" MONDO:0017319 "SCTID:178935009" MONDO:0017319 "MESH:D004612" MONDO:0017319 "NCIT:C35882" @@ -38343,11 +37447,11 @@ MONDO:0017319 "OMIM:611804" MONDO:0015045 "DOID:0060126" MONDO:0015045 "EFO:1001798" MONDO:0015045 "Orphanet:100025" +MONDO:0015045 "ICD10CM:C88.3" MONDO:0015045 "MESH:D007161" MONDO:0015045 "ICDO:9764/3" MONDO:0015045 "NCIT:C3132" MONDO:0015045 "UMLS:C0021071" -MONDO:0015045 "ICD10:C88.3" MONDO:0015045 "ICDO:9760/3" NCBITaxon:92251 "GC_ID:1" MONDO:0001951 "DOID:14374" @@ -38367,7 +37471,7 @@ MONDO:0007893 "MedDRA:10062901" MONDO:0007893 "Orphanet:500" MONDO:0007893 "MESH:D044542" MONDO:0007893 "UMLS:C0175704" -MONDO:0007893 "ICD10:Q87.1" +MONDO:0007893 "ICD10CM:Q87.1" MONDO:0007893 "OMIM:611554" MONDO:0007893 "ICD9:709.09" MONDO:0007893 "NCIT:C84820" @@ -38381,8 +37485,8 @@ HP:0001596 "UMLS:C0002170" NCBITaxon:2683628 "GC_ID:1" MONDO:0019957 "UMLS:C0346407" MONDO:0019957 "ICDO:8152/1" +MONDO:0019957 "ICD10CM:E16.8" MONDO:0019957 "Orphanet:97278" -MONDO:0019957 "ICD10:E16.8" MONDO:0019957 "UMLS:C1882278" MONDO:0019957 "UMLS:CN206879" MONDO:0019957 "NCIT:C67453" @@ -38394,11 +37498,11 @@ MONDO:0024523 "UMLS:C3887892" MONDO:0024523 "UMLS:C1260873" MONDO:0024523 "OMIM:109730" MONDO:0024523 "DOID:0080333" -MONDO:0016486 "ICD10:D56.1" MONDO:0016486 "SCTID:26682008" MONDO:0016486 "OMIM:613985" MONDO:0016486 "Orphanet:231214" MONDO:0016486 "NCIT:C129699" +MONDO:0016486 "ICD10CM:D56.1" MONDO:0016486 "ICD9:282.49" MONDO:0014606 "OMIM:616364" MONDO:0014606 "Orphanet:468678" @@ -38408,13 +37512,13 @@ MONDO:0003310 "DOID:5161" MONDO:0003310 "UMLS:C0887866" MONDO:0003310 "NCIT:C35770" MONDO:0008882 "OMIM:211355" -MONDO:0008882 "ICD10:Q68.5" +MONDO:0008882 "ICD10CM:Q68.4" MONDO:0008882 "OMIM:264050" -MONDO:0008882 "ICD10:Q68.4" MONDO:0008882 "Orphanet:2292" -MONDO:0008882 "ICD10:Q68.8" MONDO:0008882 "SCTID:716098006" -MONDO:0008882 "ICD10:Q68.3" +MONDO:0008882 "ICD10CM:Q68.3" +MONDO:0008882 "ICD10CM:Q68.8" +MONDO:0008882 "ICD10CM:Q68.5" MONDO:0008882 "GARD:0000953" MONDO:0008882 "MedDRA:10054064" MONDO:0007901 "UMLS:C1835403" @@ -38423,18 +37527,17 @@ MONDO:0007901 "MESH:C563625" MONDO:0014207 "DOID:0110026" MONDO:0014207 "OMIM:615489" MONDO:0013437 "OMIM:613810" -MONDO:0013437 "ICD10:H35.5" MONDO:0013437 "DOID:0110379" MONDO:0013437 "UMLS:C3151139" MONDO:0011023 "DOID:0111684" -MONDO:0011023 "ICD10:D12.6" MONDO:0011023 "Orphanet:157794" +MONDO:0011023 "ICD10CM:D12.6" MONDO:0011023 "UMLS:CN240759" MONDO:0011023 "OMIM:601228" MONDO:0011023 "MESH:C563365" MONDO:0011023 "OMIMPS:601228" MONDO:0011023 "OMIM:610069" -MONDO:0017185 "ICD10:E16.1" +MONDO:0017185 "ICD10CM:E16.1" MONDO:0017185 "UMLS:C4274081" MONDO:0017185 "OMIM:601820" MONDO:0017185 "SCTID:717045004" @@ -38443,6 +37546,7 @@ MONDO:0017185 "Orphanet:276580" MONDO:0017842 "OMIM:606996" MONDO:0017842 "OMIM:616307" MONDO:0017842 "Orphanet:3156" +MONDO:0017842 "ICD10CM:Q61.5" MONDO:0017842 "OMIM:614845" MONDO:0017842 "OMIMPS:266900" MONDO:0017842 "OMIM:616629" @@ -38452,7 +37556,6 @@ MONDO:0017842 "OMIM:610189" MONDO:0017842 "OMIM:609254" MONDO:0017842 "UMLS:CN117960" MONDO:0017842 "OMIM:606995" -MONDO:0017842 "ICD10:Q61.5" MONDO:0017842 "OMIM:613615" MONDO:0017842 "GARD:0000322" MONDO:0017842 "OMIM:266900" @@ -38464,9 +37567,9 @@ MONDO:0019003 "ICD9:258.02" MONDO:0019003 "OMIM:171400" MONDO:0019003 "UMLS:CN073359" MONDO:0019003 "NCIT:C123329" -MONDO:0019003 "ICD10:D44.8" MONDO:0019003 "OMIM:155240" MONDO:0019003 "UMLS:C4048306" +MONDO:0019003 "ICD10CM:D44.8" MONDO:0019003 "Orphanet:653" MONDO:0019003 "ICD9:194.8" MONDO:0019003 "SCTID:61808009" @@ -38485,36 +37588,35 @@ MONDO:0009299 "OMIM:233300" MONDO:0009299 "SCTID:95198001" MONDO:0009299 "MESH:D023961" MONDO:0009299 "NCIT:C120197" -MONDO:0009299 "ICD10:Q99.1" MONDO:0009299 "OMIM:400045" MONDO:0009299 "OMIM:300510" -MONDO:0017090 "ICD10:Q04.8" MONDO:0017090 "Orphanet:268926" +MONDO:0017090 "ICD10CM:Q04.8" MONDO:0032884 "OMIM:618727" MONDO:0015474 "ICD9:007.4" -MONDO:0015474 "ICD10:A07.2" MONDO:0015474 "UMLS:C0520796" MONDO:0015474 "MESH:D003457" MONDO:0015474 "UMLS:C0010418" +MONDO:0015474 "ICD10CM:A07.2" MONDO:0015474 "NCIT:C128408" MONDO:0015474 "DOID:1733" MONDO:0015474 "SCTID:66160001" MONDO:0015474 "GARD:0006219" MONDO:0015474 "MedDRA:10011502" MONDO:0015474 "Orphanet:1549" +MONDO:0011479 "ICD10CM:I95.1" MONDO:0011479 "Orphanet:443236" -MONDO:0011479 "ICD10:I95.1" MONDO:0011479 "EFO:1000645" MONDO:0011479 "SCTID:8074002" MONDO:0011479 "DOID:0111154" MONDO:0011479 "OMIM:604715" +MONDO:0009054 "ICD10CM:Q82.8" MONDO:0009054 "OMIM:614434" MONDO:0009054 "Orphanet:357058" MONDO:0009054 "OMIM:617402" MONDO:0009054 "OMIM:219200" MONDO:0009054 "UMLS:CN204606" MONDO:0009054 "DOID:0070136" -MONDO:0009054 "ICD10:Q82.8" MONDO:0009054 "MESH:C562632" MONDO:0009054 "Orphanet:357074" MONDO:0009054 "OMIM:617403" @@ -38531,9 +37633,9 @@ MONDO:0004409 "DOID:7953" MONDO:0004409 "UMLS:C1334967" MONDO:0004409 "NCIT:C27234" MONDO:0018014 "Orphanet:329942" -MONDO:0018014 "ICD10:E71.3" MONDO:0018014 "SCTID:723552005" MONDO:0018014 "UMLS:CN204228" +MONDO:0018014 "ICD10CM:E71.3" MONDO:0044225 "HGNC:1992" NCBITaxon:42740 "GC_ID:1" MONDO:0021541 "ICD9:228.03" @@ -38545,11 +37647,9 @@ MONDO:0007138 "Orphanet:88632" MONDO:0007138 "OMIM:107250" MONDO:0007138 "DOID:0060605" MONDO:0007138 "UMLS:C1862839" -MONDO:0007138 "ICD10:Q13.8" NCBITaxon:2611352 "GC_ID:1" MONDO:0020344 "OMIM:616324" MONDO:0020344 "OMIM:616314" -MONDO:0020344 "ICD10:G70.2" MONDO:0020344 "OMIM:616720" MONDO:0020344 "OMIM:616323" MONDO:0020344 "OMIM:616321" @@ -38561,6 +37661,7 @@ MONDO:0020344 "OMIM:601462" MONDO:0020344 "OMIM:608930" MONDO:0020344 "OMIM:605809" MONDO:0020344 "OMIM:254300" +MONDO:0020344 "ICD10CM:G70.2" MONDO:0020344 "OMIM:616304" MONDO:0020344 "OMIM:615120" MONDO:0020344 "OMIM:616322" @@ -38573,17 +37674,17 @@ MONDO:0007314 "OMIM:118350" MONDO:0013866 "DOID:0110732" MONDO:0013866 "Orphanet:314629" MONDO:0013866 "UMLS:C3539123" -MONDO:0013866 "ICD10:E75.4" MONDO:0013866 "OMIM:614706" +MONDO:0013866 "ICD10CM:E75.4" MONDO:0013866 "Orphanet:79262" -MONDO:0021449 "ICD10:D13.1" MONDO:0021449 "ICD9:211.1" MONDO:0021449 "SCTID:92411005" MONDO:0021449 "NCIT:C3599" +MONDO:0021449 "ICD10CM:D13.1" MONDO:0021449 "UMLS:C0153943" MONDO:0016056 "Orphanet:199642" MONDO:0016056 "DOID:0070297" -MONDO:0016056 "ICD10:Q02" +MONDO:0016056 "ICD10CM:Q02" MONDO:0016056 "MedDRA:10027534" MONDO:0016056 "GARD:0007038" MONDO:0010539 "OMIM:301950" @@ -38591,7 +37692,7 @@ MONDO:0010539 "SCTID:719813003" MONDO:0010539 "MESH:C537102" MONDO:0010539 "Orphanet:1131" MONDO:0010539 "GARD:0001002" -MONDO:0010539 "ICD10:Q75.4" +MONDO:0010539 "ICD10CM:Q75.4" MONDO:0010539 "UMLS:C1844918" MONDO:0015943 "UMLS:C0008728" MONDO:0015943 "MESH:D015267" @@ -38602,11 +37703,10 @@ MONDO:0015943 "GARD:0006111" MONDO:0015943 "GARD:0005776" MONDO:0015943 "NCIT:C34481" MONDO:0015943 "SCTID:82275008" -MONDO:0015943 "ICD10:M30.1" MONDO:0015943 "MedDRA:10048594" NCBITaxon:33264 "GC_ID:1" -MONDO:0019432 "ICD10:M08.3" MONDO:0019432 "Orphanet:85408" +MONDO:0019432 "ICD10CM:M08.3" MONDO:0017289 "Orphanet:284362" MONDO:0017289 "UMLS:CN202863" MONDO:0022982 "GARD:0001858" @@ -38615,8 +37715,8 @@ MONDO:0012718 "MESH:C567126" MONDO:0012718 "UMLS:C4510567" MONDO:0012718 "UMLS:C2673642" MONDO:0012718 "DOID:0111473" +MONDO:0012718 "ICD10CM:E88.8" MONDO:0012718 "Orphanet:137908" -MONDO:0012718 "ICD10:E88.8" MONDO:0012718 "SCTID:724279004" MONDO:0012718 "OMIM:611719" MONDO:0005356 "ICD9:413.9" @@ -38634,12 +37734,11 @@ MONDO:0006302 "NCIT:C6882" MONDO:0006302 "EFO:1000377" HP:0000005 "UMLS:C1708511" MONDO:0100214 "OMIMPS:613658" -MONDO:0015297 "ICD10:Q87.8" +MONDO:0015297 "ICD10CM:Q87.8" MONDO:0015297 "Orphanet:137653" MONDO:0015297 "UMLS:CN199250" MONDO:0019888 "SCTID:764500002" MONDO:0019888 "Orphanet:96107" -MONDO:0019888 "ICD10:Q92.3" HP:0006817 "UMLS:C1855676" HP:0006817 "UMLS:C3280770" MONDO:0014931 "OMIM:617126" @@ -38650,12 +37749,12 @@ MONDO:0002167 "DOID:1992" MONDO:0002167 "SCTID:276822007" MONDO:0024302 "SCTID:187227006" MONDO:0024302 "UMLS:C0348999" -MONDO:0024302 "ICD10:B83.4" +MONDO:0024302 "ICD10CM:B83.4" MONDO:0003241 "NCIT:C7004" MONDO:0003241 "UMLS:C1333957" MONDO:0003241 "DOID:501" -MONDO:0008661 "ICD10:L80" MONDO:0008661 "MESH:D014820" +MONDO:0008661 "ICD10CM:L80" MONDO:0008661 "DOID:12306" MONDO:0008661 "UMLS:C0042900" MONDO:0008661 "Orphanet:247871" @@ -38670,16 +37769,15 @@ MONDO:0014598 "UMLS:C4225357" MONDO:0001801 "UMLS:C0155360" MONDO:0001801 "DOID:13789" MONDO:0001801 "SCTID:87819007" -MONDO:0001801 "ICD10:H15.83" MONDO:0001801 "ICD9:379.12" MONDO:0005543 "SCTID:721711009" MONDO:0005543 "Orphanet:563576" MONDO:0005543 "ICD9:571.49" MONDO:0005543 "SCTID:197284004" MONDO:0014353 "OMIM:216920" -MONDO:0014353 "ICD10:E77.8" MONDO:0014353 "UMLS:C4014371" MONDO:0014353 "OMIM:615816" +MONDO:0014353 "ICD10CM:E77.8" MONDO:0014353 "MESH:C565684" MONDO:0014353 "UMLS:C1857617" MONDO:0014353 "GARD:0004331" @@ -38699,14 +37797,13 @@ MONDO:0012204 "Orphanet:90044" MONDO:0012204 "SCTID:717254007" MONDO:0012204 "OMIM:609153" MONDO:0012204 "UMLS:C1836705" -MONDO:0012204 "ICD10:D58.8" +MONDO:0012204 "ICD10CM:D58.8" MONDO:0012204 "MESH:C563785" MONDO:0008732 "Orphanet:95702" MONDO:0008732 "OMIM:202155" MONDO:0008732 "UMLS:C1859977" MONDO:0015663 "UMLS:C0271889" MONDO:0015663 "NCIT:C116955" -MONDO:0015663 "ICD10:C72.8" MONDO:0015663 "UMLS:CN200089" MONDO:0015663 "SCTID:237733001" MONDO:0015663 "ICD9:253.8" @@ -38727,10 +37824,10 @@ MONDO:0016746 "EFO:1000370" MONDO:0016746 "DOID:5900" MONDO:0008046 "OMIM:160010" MONDO:0008046 "UMLS:C1834567" +MONDO:0008046 "ICD10CM:R82.1" MONDO:0008046 "SCTID:725903003" MONDO:0008046 "Orphanet:99846" MONDO:0008046 "MESH:C563546" -MONDO:0008046 "ICD10:R82.1" MONDO:0003787 "NCIT:C6542" MONDO:0003787 "DOID:6161" MONDO:0003787 "UMLS:C1333009" @@ -38755,29 +37852,27 @@ MONDO:0010246 "GARD:0010806" MONDO:0012699 "OMIM:611588" MONDO:0012699 "DOID:0110296" MONDO:0012699 "GARD:0012538" +MONDO:0012699 "ICD10CM:G71.0" MONDO:0012699 "UMLS:C1969040" MONDO:0012699 "Orphanet:206554" MONDO:0012699 "MESH:C566912" -MONDO:0012699 "ICD10:G71.0" MONDO:0020311 "NCIT:C3178" MONDO:0020311 "SCTID:127225006" MONDO:0020311 "ICDO:9945/3" MONDO:0020311 "GARD:0008225" MONDO:0020311 "MESH:D015477" -MONDO:0020311 "ICD10:C93.1" MONDO:0020311 "ONCOTREE:CMML" MONDO:0020311 "DOID:0080188" MONDO:0020311 "MedDRA:10009018" MONDO:0020311 "Orphanet:98823" MONDO:0020311 "UMLS:C0023480" NCBITaxon:33630 "GC_ID:1" -MONDO:0017350 "ICD10:E70.8" +MONDO:0017350 "ICD10CM:E70.8" MONDO:0017350 "Orphanet:289829" MONDO:0017350 "SCTID:5181007" MONDO:0017350 "ICD9:270.2" MONDO:0017350 "UMLS:CN203012" MONDO:0008231 "UMLS:C0030848" -MONDO:0008231 "ICD10:N48.6" MONDO:0008231 "DOID:8616" MONDO:0008231 "ICD9:607.85" MONDO:0008231 "Orphanet:2870" @@ -38789,6 +37884,7 @@ MONDO:0020596 "NCIT:C27825" MONDO:0021638 "UMLS:C3898569" MONDO:0021638 "NCIT:C116342" MONDO:0011781 "OMIM:607136" +MONDO:0011781 "ICD10CM:G11.8" MONDO:0011781 "GARD:0010469" MONDO:0011781 "MESH:C564616" MONDO:0011781 "UMLS:C1833995" @@ -38796,42 +37892,41 @@ MONDO:0011781 "SCTID:719249005" MONDO:0011781 "OMIM:164700" MONDO:0011781 "DOID:0050967" MONDO:0011781 "MESH:C563505" -MONDO:0011781 "ICD10:G11.8" MONDO:0011781 "Orphanet:98759" MONDO:0011781 "UMLS:C1846707" -MONDO:0007034 "SCTID:34748004" -MONDO:0007034 "OMIM:616589" -MONDO:0007034 "DOID:0060227" -MONDO:0007034 "OMIM:614814" -MONDO:0007034 "UMLS:C0265268" -MONDO:0007034 "OMIM:615297" -MONDO:0007034 "OMIM:614219" -MONDO:0007034 "OMIM:100300" -MONDO:0007034 "ICD10:Q87.2" +MONDO:0007034 "GARD:0005739" MONDO:0007034 "ICD9:759.89" +MONDO:0007034 "OMIM:615297" +MONDO:0007034 "OMIM:616589" +MONDO:0007034 "Orphanet:974" MONDO:0007034 "MESH:C538225" +MONDO:0007034 "DOID:0060227" MONDO:0007034 "OMIMPS:100300" -MONDO:0007034 "GARD:0005739" -MONDO:0007034 "Orphanet:974" +MONDO:0007034 "OMIM:100300" +MONDO:0007034 "ICD10CM:Q87.2" +MONDO:0007034 "UMLS:C0265268" +MONDO:0007034 "SCTID:34748004" MONDO:0007034 "OMIM:616028" +MONDO:0007034 "OMIM:614814" +MONDO:0007034 "OMIM:614219" MONDO:0009464 "OMIM:243110" MONDO:0009464 "UMLS:C1855735" MONDO:0014073 "DOID:0110450" +MONDO:0014073 "ICD10CM:I42.0" MONDO:0014073 "UMLS:C3554649" MONDO:0014073 "OMIM:615184" -MONDO:0014073 "ICD10:I42.0" +MONDO:0011687 "MESH:C535413" +MONDO:0011687 "ICD10CM:G60.0" +MONDO:0011687 "UMLS:C1847823" +MONDO:0011687 "UMLS:C4304675" +MONDO:0011687 "OMIM:606595" MONDO:0011687 "SCTID:719510006" MONDO:0011687 "GARD:0009194" MONDO:0011687 "Orphanet:99940" -MONDO:0011687 "ICD10:G60.0" MONDO:0011687 "DOID:0110163" -MONDO:0011687 "UMLS:C1847823" -MONDO:0011687 "MESH:C535413" -MONDO:0011687 "OMIM:606595" -MONDO:0011687 "UMLS:C4304675" +MONDO:0010938 "ICD10CM:D81.2" MONDO:0010938 "UMLS:C4273742" MONDO:0010938 "UMLS:C1833275" -MONDO:0010938 "ICD10:D81.2" MONDO:0010938 "OMIM:600802" MONDO:0010938 "Orphanet:35078" MONDO:0010938 "SCTID:718107000" @@ -38841,20 +37936,20 @@ CL:0000764 "FMA:62845" CL:0000764 "FMA:83516" MONDO:0033560 "OMIM:619003" MONDO:0019667 "ICD9:756.9" -MONDO:0019667 "ICD10:Q77.7" MONDO:0019667 "SCTID:51952004" MONDO:0019667 "DOID:0080362" +MONDO:0019667 "ICD10CM:Q77.7" MONDO:0019667 "OMIM:313400" MONDO:0019667 "OMIM:184100" MONDO:0019667 "OMIM:271600" MONDO:0019667 "Orphanet:93284" NCBITaxon:2842242 "GC_ID:1" MONDO:0008114 "SCTID:191736004" -MONDO:0008114 "ICD10:F42" MONDO:0008114 "DOID:10933" MONDO:0008114 "MESH:D009771" MONDO:0008114 "EFO:0004242" MONDO:0008114 "OMIM:164230" +MONDO:0008114 "ICD10CM:F42" MONDO:0008114 "ICD9:300.3" MONDO:0008114 "NCIT:C88411" MONDO:0018791 "Orphanet:477768" @@ -38862,9 +37957,9 @@ MONDO:0009672 "NCIT:C118847" MONDO:0009672 "Orphanet:70" MONDO:0009672 "ICD9:335.11" MONDO:0009672 "DOID:12376" +MONDO:0009672 "ICD10CM:G12.1" MONDO:0009672 "GARD:0000198" MONDO:0009672 "UMLS:C0700595" -MONDO:0009672 "ICD10:G12.1" MONDO:0009672 "Orphanet:83419" MONDO:0009672 "OMIM:253400" MONDO:0009672 "UMLS:C0152109" @@ -38881,10 +37976,10 @@ MONDO:0012291 "MESH:C536291" MONDO:0012291 "GARD:0010198" MONDO:0032689 "OMIM:618345" MONDO:0010069 "Orphanet:94095" -MONDO:0010069 "ICD10:Q87.8" MONDO:0010069 "OMIM:271520" MONDO:0010069 "MESH:C564799" MONDO:0010069 "UMLS:C1849069" +MONDO:0010069 "ICD10CM:Q87.8" MONDO:0033631 "OMIM:619057" MONDO:0012269 "Orphanet:65286" MONDO:0012269 "MESH:C567184" @@ -38893,7 +37988,7 @@ MONDO:0012269 "UMLS:C2674949" MONDO:0012269 "SCTID:716456000" MONDO:0012269 "OMIM:609425" MONDO:0012269 "GARD:0011974" -MONDO:0012269 "ICD10:Q93.5" +MONDO:0012269 "ICD10CM:Q93.5" MONDO:0016221 "Orphanet:210581" MONDO:0014542 "OMIM:616227" MONDO:0014542 "Orphanet:353327" @@ -38901,44 +37996,43 @@ MONDO:0014542 "DOID:0110658" MONDO:0014542 "Orphanet:590" MONDO:0014542 "UMLS:C4015596" MONDO:0001062 "DOID:10547" -MONDO:0001062 "ICD10:C16.3" MONDO:0001062 "ICD9:151.2" MONDO:0001062 "SCTID:187740000" MONDO:0001062 "UMLS:C0153419" MONDO:0017458 "GARD:0012770" MONDO:0017458 "SCTID:205133005" -MONDO:0017458 "ICD10:Q69.2" MONDO:0017458 "Orphanet:295008" -MONDO:0005135 "EFO:0001067" -MONDO:0005135 "ICD9:129" -MONDO:0005135 "UMLS:C0014238" -MONDO:0005135 "ICD9:376.13" +MONDO:0017458 "ICD10CM:Q69.2" +MONDO:0005135 "DOID:1398" +MONDO:0005135 "ICD9:136.9" +MONDO:0005135 "NCIT:C34587" MONDO:0005135 "ICD9:136.8" -MONDO:0005135 "ICD9:360.13" MONDO:0005135 "NCIT:C27864" +MONDO:0005135 "ICD9:129" +MONDO:0005135 "ICD9:360.13" MONDO:0005135 "ICD9:136.4" -MONDO:0005135 "NCIT:C34587" -MONDO:0005135 "ICD9:136.9" -MONDO:0005135 "SCTID:17322007" -MONDO:0005135 "ICD9:134.8" -MONDO:0005135 "DOID:1398" +MONDO:0005135 "EFO:0001067" +MONDO:0005135 "SCTID:57100005" +MONDO:0005135 "ICD9:376.13" MONDO:0005135 "MESH:D010272" -MONDO:0005135 "MESH:D018512" MONDO:0005135 "ICD9:134.9" -MONDO:0005135 "ICD10:H44.12" -MONDO:0005135 "SCTID:57100005" +MONDO:0005135 "ICD9:134.8" +MONDO:0005135 "UMLS:C0014238" +MONDO:0005135 "MESH:D018512" +MONDO:0005135 "SCTID:17322007" PO:0009008 "PO_GIT:55" MONDO:0008335 "MESH:C535844" MONDO:0008335 "Orphanet:2994" MONDO:0008335 "OMIM:177980" -MONDO:0008335 "ICD10:Q87.8" MONDO:0008335 "SCTID:716090004" MONDO:0008335 "GARD:0002605" MONDO:0008335 "UMLS:C1867443" +MONDO:0008335 "ICD10CM:Q87.8" MONDO:0018400 "Orphanet:399849" MONDO:0018400 "UMLS:CN227346" MONDO:0008511 "OMIM:185800" MONDO:0008511 "MESH:C536223" +MONDO:0008511 "ICD10CM:Q70.9" MONDO:0008511 "HP:0100264" MONDO:0008511 "DOID:0050788" MONDO:0008511 "UMLS:C1861385" @@ -38947,7 +38041,6 @@ MONDO:0008511 "OMIM:615298" MONDO:0008511 "Orphanet:3250" MONDO:0008511 "KEGG:H00484" MONDO:0008511 "OMIMPS:185800" -MONDO:0008511 "ICD10:Q70.9" MONDO:0012174 "UMLS:C1836946" MONDO:0012174 "OMIM:609021" MONDO:0012174 "MESH:C563813" @@ -38956,7 +38049,6 @@ MONDO:0021918 "GARD:0009223" MONDO:0021918 "UMLS:C2931491" MONDO:0000857 "DOID:0080069" MONDO:0016525 "OMIMPS:103900" -MONDO:0016525 "ICD10:E26.0" MONDO:0016525 "UMLS:CN229602" MONDO:0016525 "UMLS:C3713420" MONDO:0016525 "MESH:C580087" @@ -38964,8 +38056,8 @@ MONDO:0016525 "NCIT:C127160" MONDO:0016525 "Orphanet:235936" MONDO:0016525 "Orphanet:371861" MONDO:0016525 "SCTID:703231005" +MONDO:0016525 "ICD10CM:E26.0" MONDO:0020188 "Orphanet:98598" -MONDO:0001803 "ICD10:H73.01" MONDO:0001803 "DOID:13791" MONDO:0001803 "ICD9:384.01" MONDO:0001803 "UMLS:C0155461" @@ -38973,13 +38065,13 @@ MONDO:0001803 "SCTID:33528003" MONDO:0041186 "SCTID:238926009" MONDO:0041186 "UMLS:C0406637" MONDO:0008921 "NCIT:C125661" -MONDO:0008921 "ICD10:E70.8" MONDO:0008921 "UMLS:C0268632" MONDO:0008921 "SCTID:410052008" MONDO:0008921 "UMLS:C3495554" MONDO:0008921 "OMIM:212200" MONDO:0008921 "UMLS:C3495555" MONDO:0008921 "Orphanet:1361" +MONDO:0008921 "ICD10CM:E70.8" MONDO:0008921 "GARD:0006001" HP:0011842 "UMLS:C4023165" MONDO:0012584 "OMIM:610927" @@ -38992,23 +38084,23 @@ MONDO:0013530 "OMIM:614022" MONDO:0013530 "Orphanet:334" MONDO:0013530 "UMLS:C3151464" MONDO:0016699 "ICDO:9394/1" +MONDO:0016699 "ICD10CM:D43.2" MONDO:0016699 "Orphanet:251643" -MONDO:0016699 "ICD10:D43.2" MONDO:0016699 "UMLS:C0205769" MONDO:0016699 "GARD:0010633" MONDO:0016699 "DOID:5075" MONDO:0016699 "NCIT:C3697" MONDO:0016699 "MESH:D004806" MONDO:0016699 "ONCOTREE:MPE" +MONDO:0018899 "ICD10CM:G31.1" MONDO:0018899 "SCTID:715574002" -MONDO:0018899 "ICD10:G31.1" MONDO:0018899 "Orphanet:54247" MONDO:0018899 "UMLS:CN205270" MONDO:0014763 "OMIM:616754" -MONDO:0017927 "ICD10:Q68.4" MONDO:0017927 "SCTID:766819001" MONDO:0017927 "Orphanet:324307" MONDO:0017927 "UMLS:CN204066" +MONDO:0017927 "ICD10CM:Q68.4" CL:0000492 "CALOHA:TS-1146" CL:0000492 "FMA:70572" MONDO:0015513 "Orphanet:156638" @@ -39020,7 +38112,6 @@ MONDO:0012771 "OMIM:611960" MONDO:0001437 "MESH:D011649" MONDO:0001437 "DOID:12120" MONDO:0001437 "ICD9:516.0" -MONDO:0001437 "ICD10:J84.01" MONDO:0001437 "OMIM:265120" MONDO:0001437 "OMIM:614370" MONDO:0001437 "Reactome:R-HSA-5683826" @@ -39033,8 +38124,8 @@ MONDO:0001437 "NCIT:C85037" MONDO:0001437 "SCTID:10501004" MONDO:0003406 "MESH:D012893" MONDO:0003406 "ICD9:307.4" -MONDO:0003406 "ICD10:G47" MONDO:0003406 "ICD9:307.49" +MONDO:0003406 "ICD10CM:G47" MONDO:0003406 "EFO:0008568" MONDO:0003406 "DOID:535" MONDO:0003406 "SCTID:39898005" @@ -39047,15 +38138,14 @@ MONDO:0015969 "UMLS:CN200568" MONDO:0003618 "UMLS:C0034220" MONDO:0003618 "NCIT:C34968" MONDO:0003618 "SCTID:397810006" -MONDO:0003618 "ICD10:N70" MONDO:0003618 "DOID:5732" +MONDO:0016915 "ICD10CM:Q93.5" MONDO:0016915 "Orphanet:262137" -MONDO:0016915 "ICD10:Q93.5" MONDO:0018394 "OMIM:102530" MONDO:0018394 "SCTID:764096006" MONDO:0018394 "OMIM:243060" +MONDO:0018394 "ICD10CM:N46" MONDO:0018394 "UMLS:CN252642" -MONDO:0018394 "ICD10:N46" MONDO:0018394 "GARD:0012514" MONDO:0018394 "OMIM:613958" MONDO:0018394 "Orphanet:399808" @@ -39063,12 +38153,10 @@ MONDO:0018394 "OMIM:615413" MONDO:0001366 "ICD9:289.52" MONDO:0001366 "DOID:11786" MONDO:0018570 "SCTID:30174008" -MONDO:0018570 "ICD10:E83.39" MONDO:0018570 "MedDRA:10049933" MONDO:0018570 "OMIM:241500" MONDO:0018570 "UMLS:C0020630" MONDO:0018570 "UMLS:C0220743" -MONDO:0018570 "ICD10:E83.3" MONDO:0018570 "GARD:0006734" MONDO:0018570 "DOID:14213" MONDO:0018570 "Orphanet:436" @@ -39078,19 +38166,20 @@ MONDO:0018570 "SCTID:360792001" MONDO:0018570 "NCIT:C26798" MONDO:0018570 "MESH:C562440" MONDO:0018570 "ICD9:277.6" +MONDO:0018570 "ICD10CM:E83.3" MONDO:0018570 "OMIM:146300" MONDO:0009104 "OMIM:222448" MONDO:0009104 "GARD:0001899" MONDO:0009104 "ICD9:759.89" MONDO:0009104 "MESH:C536390" MONDO:0009104 "SCTID:702418009" -MONDO:0009104 "ICD10:Q87.8" +MONDO:0009104 "ICD10CM:Q87.8" MONDO:0009104 "GARD:1899" MONDO:0009104 "UMLS:C1857277" MONDO:0009104 "Orphanet:2143" MONDO:0009104 "DOID:0090144" -MONDO:0019901 "ICD10:Q93.5" MONDO:0019901 "Orphanet:96164" +MONDO:0019901 "ICD10CM:Q93.5" HP:0000036 "UMLS:C4025896" MONDO:0004742 "SCTID:23732000" MONDO:0004742 "DOID:9277" @@ -39099,32 +38188,31 @@ MONDO:0004742 "UMLS:C0033132" MONDO:0011631 "UMLS:C1853733" MONDO:0011631 "SCTID:719975002" MONDO:0011631 "DOID:0111028" +MONDO:0011631 "ICD10CM:E83.1" MONDO:0011631 "GARD:0010094" MONDO:0011631 "Orphanet:139491" -MONDO:0011631 "ICD10:E83.1" MONDO:0011631 "MESH:C537249" MONDO:0011631 "OMIM:606069" MONDO:0001624 "DOID:13046" MONDO:0001624 "SCTID:77919000" -MONDO:0001624 "ICD10:J01.30" +MONDO:0001624 "ICD10CM:J01.3" MONDO:0001624 "UMLS:C0155807" MONDO:0001624 "ICD9:461.3" -MONDO:0001624 "ICD10:J01.3" MONDO:0007191 "Orphanet:117" MONDO:0007191 "GARD:0000848" MONDO:0007191 "OMIM:109650" MONDO:0007191 "EFO:0003780" MONDO:0007191 "UMLS:C0004943" -MONDO:0007191 "ICD10:M35.2" MONDO:0007191 "ICD9:136.1" MONDO:0007191 "MESH:D001528" MONDO:0007191 "MedDRA:10004213" MONDO:0007191 "DOID:13241" MONDO:0007191 "NCIT:C34416" MONDO:0007191 "SCTID:310701003" -MONDO:0007527 "ICD10:Q79.6" MONDO:0007527 "OMIM:617174" +MONDO:0007527 "ICD10CM:Q79.6" MONDO:0007527 "SCTID:50869007" +MONDO:0007527 "OMIM:130080" MONDO:0007527 "GARD:0012474" MONDO:0007527 "Orphanet:75392" MONDO:0007527 "MESH:C562626" @@ -39132,28 +38220,28 @@ MONDO:0100416 "NCIT:C67495" MONDO:0010411 "MESH:C567472" MONDO:0010411 "OMIM:300711" MONDO:0010411 "UMLS:C2678037" -MONDO:0019255 "ICD10:E75.3" MONDO:0019255 "NCIT:C117254" +MONDO:0019255 "ICD10CM:E75.2" +MONDO:0019255 "ICD10CM:E75.0" MONDO:0019255 "SCTID:238028008" MONDO:0019255 "MESH:D013106" -MONDO:0019255 "ICD10:E75.1" +MONDO:0019255 "ICD10CM:E75.3" MONDO:0019255 "GARD:0007672" -MONDO:0019255 "ICD10:E75.2" -MONDO:0019255 "SCTID:58459009" MONDO:0019255 "DOID:1927" +MONDO:0019255 "SCTID:58459009" +MONDO:0019255 "ICD10CM:E75.1" MONDO:0019255 "Orphanet:79225" -MONDO:0019255 "ICD10:E75.0" MONDO:0019255 "UMLS:C0037899" MONDO:0013810 "OMIM:614576" MONDO:0013810 "DOID:0070264" -MONDO:0013810 "ICD10:E77.8" MONDO:0013810 "Orphanet:464443" MONDO:0013810 "GARD:0010944" MONDO:0013810 "UMLS:C3553230" +MONDO:0013810 "ICD10CM:E77.8" MONDO:0016000 "OMIM:146200" MONDO:0016000 "Orphanet:189466" MONDO:0016000 "UMLS:CN200646" -MONDO:0016000 "ICD10:E20.8" +MONDO:0016000 "ICD10CM:E20.8" NCBITaxon:33349 "GC_ID:1" MONDO:0054725 "OMIM:617644" MONDO:0054725 "DOID:0070163" @@ -39167,28 +38255,23 @@ MONDO:0019517 "OMIM:608890" MONDO:0019517 "GARD:0005520" MONDO:0019517 "MESH:C536463" MONDO:0019517 "OMIM:600193" +MONDO:0019517 "ICD10CM:E70.3" MONDO:0019517 "Orphanet:895" MONDO:0019517 "OMIM:193510" MONDO:0019517 "OMIM:611584" MONDO:0019517 "NCIT:C75009" -MONDO:0019517 "ICD10:E70.3" NCBITaxon:27872 "GC_ID:1" MONDO:0001805 "UMLS:C0153549" MONDO:0001805 "ICD9:174.1" MONDO:0001805 "SCTID:188151006" MONDO:0001805 "DOID:13799" -MONDO:0001805 "ICD10:C50.11" MONDO:0002052 "HP:0002840" MONDO:0002052 "NCIT:C26821" -MONDO:0002052 "ICD10:I88.1" -MONDO:0002052 "ICD10:L04" MONDO:0002052 "DOID:1602" MONDO:0002052 "ICD9:289.1" MONDO:0002052 "UMLS:C0157705" MONDO:0002052 "SCTID:41174002" -MONDO:0002052 "ICD10:I88.9" MONDO:0002052 "UMLS:C0154304" -MONDO:0002052 "ICD10:L04.9" MONDO:0002052 "MESH:D008199" MONDO:0002052 "UMLS:C0024205" MONDO:0002052 "ICD9:683" @@ -39196,7 +38279,6 @@ MONDO:0004813 "ICD9:011.71" MONDO:0004813 "ICD9:011.72" MONDO:0004813 "SCTID:29731002" MONDO:0004813 "ICD9:011.73" -MONDO:0004813 "ICD10:A15.0" MONDO:0004813 "ICD9:011.76" MONDO:0004813 "DOID:9534" MONDO:0004813 "UMLS:C0152600" @@ -39208,12 +38290,12 @@ MONDO:0010717 "Orphanet:765" MONDO:0010717 "OMIM:312170" MONDO:0010717 "Orphanet:79243" MONDO:0010717 "ICD9:277.6" -MONDO:0010717 "ICD10:E74.4" MONDO:0010717 "GARD:0004620" +MONDO:0010717 "ICD10CM:E74.4" MONDO:0010717 "SCTID:124593001" +MONDO:0013164 "ICD10CM:E79.8" MONDO:0013164 "ICD9:277.6" MONDO:0013164 "UMLS:C1291512" -MONDO:0013164 "ICD10:E79.8" MONDO:0013164 "OMIM:613161" MONDO:0013164 "Orphanet:65287" MONDO:0013164 "MESH:C563210" @@ -39226,21 +38308,20 @@ MONDO:0011852 "MESH:C564384" MONDO:0011852 "OMIM:607523" CL:0002241 "FMA:84467" MONDO:0017402 "UMLS:CN203146" +MONDO:0017402 "ICD10CM:I42.8" MONDO:0017402 "Orphanet:293899" MONDO:0017402 "OMIM:610193" MONDO:0017402 "OMIM:107970" -MONDO:0017402 "ICD10:I42.8" MONDO:0018960 "Orphanet:617" -MONDO:0018960 "ICD10:Q62.2" MONDO:0018960 "SCTID:717459000" MONDO:0018960 "GARD:0000219" MONDO:0018960 "GARD:0001492" CL:1000283 "FMA:17519" MONDO:0044717 "Orphanet:502437" +MONDO:0001795 "ICD10CM:B07.0" MONDO:0001795 "SCTID:63440008" MONDO:0001795 "ICD9:078.12" MONDO:0001795 "DOID:13775" -MONDO:0001795 "ICD10:B07.0" MONDO:0001795 "EFO:1002023" MONDO:0001795 "UMLS:C0042548" MONDO:0001795 "NCIT:C26913" @@ -39249,11 +38330,10 @@ MONDO:0012363 "DOID:0110355" MONDO:0012363 "GARD:0010395" MONDO:0012363 "MESH:C563689" MONDO:0012363 "UMLS:C1835927" -MONDO:0012363 "ICD10:H35.5" MONDO:0007698 "SCTID:702425002" +MONDO:0007698 "ICD10CM:Q51.2" MONDO:0007698 "GARD:0002594" MONDO:0007698 "MedDRA:10072361" -MONDO:0007698 "ICD10:Q51.2" MONDO:0007698 "DOID:0060739" MONDO:0007698 "UMLS:C1841679" MONDO:0007698 "ICD9:759.89" @@ -39270,8 +38350,8 @@ MONDO:0009516 "UMLS:C1855523" MONDO:0009516 "Orphanet:2310" NCBITaxon:43750 "GC_ID:1" MONDO:0012928 "SCTID:763070001" -MONDO:0012928 "ICD10:G11.4" MONDO:0012928 "Orphanet:171863" +MONDO:0012928 "ICD10CM:G11.4" MONDO:0012928 "UMLS:C2675528" MONDO:0012928 "DOID:0110794" MONDO:0012928 "OMIM:612539" @@ -39280,8 +38360,8 @@ MONDO:0004312 "DOID:7634" MONDO:0004312 "NCIT:C6776" MONDO:0004312 "UMLS:C1336535" MONDO:0020084 "Orphanet:98291" +MONDO:0020084 "ICD10CM:D47.9" MONDO:0020084 "UMLS:CN206986" -MONDO:0020084 "ICD10:D47.9" MONDO:0002169 "DOID:1996" MONDO:0002169 "SCTID:254582000" MONDO:0002169 "UMLS:C0149978" @@ -39297,8 +38377,8 @@ MONDO:0023113 "OMIM:114500" MONDO:0020470 "Orphanet:99330" MONDO:0020470 "UMLS:CN207332" MONDO:0020470 "SCTID:734028007" -MONDO:0020470 "ICD10:Q98.8" MONDO:0020470 "UMLS:C4518342" +MONDO:0020470 "ICD10CM:Q98.8" MONDO:0004358 "UMLS:C1299239" MONDO:0004358 "DOID:7764" MONDO:0004358 "SCTID:372104008" @@ -39317,7 +38397,7 @@ MONDO:0015748 "Orphanet:171723" MONDO:0015748 "OMIM:615785" MONDO:0015748 "OMIM:193900" MONDO:0015748 "UMLS:C1721005" -MONDO:0015748 "ICD10:Q38.6" +MONDO:0015748 "ICD10CM:Q38.6" MONDO:0015748 "NCIT:C84760" MONDO:0015748 "OMIMPS:193900" MONDO:0015748 "ICD9:528.6" @@ -39332,8 +38412,6 @@ MONDO:0005753 "UMLS:C0014541" MONDO:0005753 "SCTID:80384002" MONDO:0005753 "EFO:0007261" MONDO:0005753 "NCIT:C116007" -MONDO:0005753 "ICD10:J05.1" -MONDO:0005753 "ICD10:J05.10" MONDO:0014613 "Orphanet:2032" MONDO:0014613 "UMLS:C4225346" MONDO:0014613 "OMIM:616373" @@ -39345,13 +38423,13 @@ MONDO:0009495 "Orphanet:85202" MONDO:0009495 "GARD:0008449" MONDO:0009495 "MESH:C536167" MONDO:0009495 "SCTID:724208006" -MONDO:0009495 "ICD10:Q87.8" +MONDO:0009495 "ICD10CM:Q87.8" MONDO:0020798 "OMIM:618883" MONDO:0010592 "DOID:2120" MONDO:0010592 "NCIT:C84715" MONDO:0010592 "ICD9:757.39" -MONDO:0010592 "ICD10:Q82.8" MONDO:0010592 "SCTID:205573006" +MONDO:0010592 "ICD10CM:Q82.8" MONDO:0010592 "UMLS:C0016395" MONDO:0010592 "MESH:D005489" MONDO:0010592 "Orphanet:2092" @@ -39367,8 +38445,8 @@ MONDO:0006986 "UMLS:C0018024" MONDO:0006986 "DOID:13200" MONDO:0006986 "EFO:1001198" MONDO:0012621 "ICD9:758.39" +MONDO:0012621 "ICD10CM:Q93.5" MONDO:0012621 "SCTID:700489002" -MONDO:0012621 "ICD10:Q93.5" MONDO:0012621 "MESH:C567010" MONDO:0012621 "Orphanet:94064" MONDO:0012621 "OMIM:611102" @@ -39380,6 +38458,7 @@ MONDO:0007932 "DOID:0110015" MONDO:0032925 "OMIM:618803" MONDO:0034142 "Orphanet:556955" MONDO:0018290 "Orphanet:371183" +MONDO:0007380 "ICD10CM:H18.5" MONDO:0007380 "SCTID:419197009" MONDO:0007380 "UMLS:C1690006" MONDO:0007380 "GARD:0009678" @@ -39388,8 +38467,6 @@ MONDO:0007380 "OMIM:608471" MONDO:0007380 "MESH:C537881" MONDO:0007380 "Orphanet:98964" MONDO:0007380 "OMIM:122200" -MONDO:0007380 "ICD10:H18.5" -MONDO:0001439 "ICD10:H15.11" MONDO:0001439 "ICD9:379.01" MONDO:0001439 "UMLS:C0155351" MONDO:0001439 "SCTID:31166000" @@ -39401,78 +38478,71 @@ MONDO:0004994 "ICD9:425.9" MONDO:0004994 "Orphanet:167848" MONDO:0004994 "EFO:0000318" MONDO:0004994 "NCIT:C53654" -MONDO:0004994 "ICD10:I51.5" MONDO:0004994 "MedDRA:10007636" MONDO:0004994 "UMLS:C0878544" MONDO:0004994 "ICD9:425" MONDO:0004994 "SCTID:85898001" -MONDO:0004994 "ICD10:I42" -MONDO:0004994 "ICD10:I42.9" MONDO:0004994 "ICD9:425.4" +MONDO:0004994 "ICD10CM:I42" MONDO:0004994 "DOID:0050700" MONDO:0004994 "GARD:0011958" MONDO:0004994 "NCIT:C34830" MONDO:0004994 "MESH:D009202" -MONDO:0018205 "ICD10:Q93.5" +MONDO:0018205 "ICD10CM:Q93.5" MONDO:0018205 "OMIM:612337" MONDO:0018205 "SCTID:717633007" MONDO:0018205 "UMLS:C4273897" MONDO:0018205 "Orphanet:36367" MONDO:0019034 "GARD:0000454" -MONDO:0019034 "ICD10:Q45.3" +MONDO:0019034 "ICD10CM:Q45.3" MONDO:0019034 "Orphanet:674" MONDO:0019034 "SCTID:79037006" MONDO:0019034 "MESH:C536003" MONDO:0014800 "Orphanet:447977" MONDO:0014800 "OMIM:616852" +MONDO:0014800 "ICD10CM:G71.0" MONDO:0014800 "UMLS:C4225181" -MONDO:0014800 "ICD10:G71.0" MONDO:0021385 "SCTID:126855001" MONDO:0021385 "UMLS:C0345913" MONDO:0021385 "NCIT:C4441" MONDO:0001216 "NCIT:C34962" MONDO:0001216 "DOID:11189" MONDO:0001216 "ICD9:522.2" +MONDO:0001216 "ICD10CM:K04.2" MONDO:0001216 "SCTID:22361007" MONDO:0001216 "UMLS:C0034100" -MONDO:0001216 "ICD10:K04.2" MONDO:0014112 "UMLS:C3809005" MONDO:0014112 "Orphanet:1340" MONDO:0014112 "DOID:0111461" MONDO:0014112 "OMIM:615278" MONDO:0007590 "OMIM:133900" -MONDO:0007590 "ICD10:Q67.4" MONDO:0007590 "Orphanet:141145" +MONDO:0007590 "ICD10CM:Q67.4" MONDO:0007590 "UMLS:C1399354" MONDO:0004416 "NCIT:C39823" MONDO:0004416 "UMLS:C1512742" MONDO:0004416 "ONCOTREE:SRCBC" MONDO:0004416 "DOID:7968" MONDO:0016917 "Orphanet:262155" -MONDO:0016917 "ICD10:Q93.5" +MONDO:0016917 "ICD10CM:Q93.5" MONDO:0019370 "Orphanet:83453" +MONDO:0019370 "ICD10CM:L43.8" MONDO:0019370 "SCTID:707250009" MONDO:0019370 "UMLS:C3873472" MONDO:0019370 "UMLS:CN206058" -MONDO:0019370 "ICD10:L43.8" MONDO:0014158 "OMIM:615382" MONDO:0014158 "DOID:0111124" MONDO:0014158 "SCTID:444558002" MONDO:0014158 "UMLS:C3809320" MONDO:0014158 "Orphanet:655" -MONDO:0014158 "ICD10:Q61.5" +MONDO:0014158 "ICD10CM:Q61.5" +MONDO:0018173 "ICD10CM:T40.0" MONDO:0018173 "Orphanet:35889" MONDO:0018173 "UMLS:CN227277" -MONDO:0018173 "ICD10:T40.1" -MONDO:0018173 "ICD10:T40.0" -MONDO:0018173 "ICD10:T40.2" +MONDO:0018173 "ICD10CM:T40.1" +MONDO:0018173 "ICD10CM:T40.2" MONDO:0018509 "NCIT:C43534" -MONDO:0018509 "ICD10:C17.8" -MONDO:0018509 "ICD10:C17.0" -MONDO:0018509 "ICD10:C17.2" MONDO:0018509 "UMLS:CN237514" -MONDO:0018509 "ICD10:C17.1" -MONDO:0018509 "ICD10:C17.3" MONDO:0018509 "UMLS:C1710111" MONDO:0018509 "Orphanet:423968" MONDO:0017793 "UMLS:CN203743" @@ -39506,9 +38576,9 @@ MONDO:0005020 "ICD9:570-579.99" MONDO:0005020 "MESH:D007410" MONDO:0005020 "ICD9:520-579.99" MONDO:0005020 "MESH:D005767" +MONDO:0005020 "ICD10CM:K55-K64" MONDO:0005020 "ICD9:575" MONDO:0005020 "ICD9:569.4" -MONDO:0005020 "ICD10:K63.9" MONDO:0005020 "ICD9:564" MONDO:0005020 "ICD9:569.89" MONDO:0005020 "NCIT:C26801" @@ -39517,20 +38587,20 @@ MONDO:0005020 "ICD9:560-569.99" HP:0000201 "UMLS:C0031900" HP:0000201 "MSH:D010855" HP:0000201 "SNOMEDCT_US:4602007" -MONDO:0008537 "ICD10:Q10.3" +MONDO:0008537 "ICD10CM:Q10.3" MONDO:0008537 "OMIM:187350" MONDO:0008537 "Orphanet:98575" MONDO:0008537 "MESH:C562941" MONDO:0030259 "OMIM:619302" HP:0001438 "UMLS:C4020869" MONDO:0016391 "NCIT:C99248" +MONDO:0016391 "ICD10CM:P70.2" MONDO:0016391 "SCTID:49817004" MONDO:0016391 "DOID:11717" MONDO:0016391 "UMLS:C0158981" MONDO:0016391 "MedDRA:10028933" MONDO:0016391 "ICD9:775.1" MONDO:0016391 "Orphanet:224" -MONDO:0016391 "ICD10:P70.2" MONDO:0032633 "OMIM:618250" MONDO:0030036 "OMIM:618878" MONDO:0009768 "GARD:0004045" @@ -39541,17 +38611,16 @@ MONDO:0009768 "MESH:C567605" MONDO:0003085 "ICD9:370.8" MONDO:0003085 "ICD9:370" MONDO:0003085 "UMLS:C0022568" -MONDO:0003085 "ICD10:H16" MONDO:0003085 "DOID:4677" -MONDO:0003085 "ICD10:H16.9" MONDO:0003085 "MESH:D007634" MONDO:0003085 "SCTID:5888003" MONDO:0003085 "NCIT:C26805" MONDO:0003085 "ICD9:370.9" -MONDO:0010013 "ICD10:Q77.7" +MONDO:0003085 "ICD10CM:H16" MONDO:0010013 "MESH:C536637" MONDO:0010013 "Orphanet:3144" MONDO:0010013 "OMIM:269250" +MONDO:0010013 "ICD10CM:Q77.7" MONDO:0010013 "UMLS:C0432194" MONDO:0010013 "SCTID:254049009" MONDO:0010013 "GARD:0000169" @@ -39568,25 +38637,25 @@ MONDO:0023083 "GARD:0002175" MONDO:0014794 "OMIM:616835" MONDO:0014794 "DOID:0080517" MONDO:0014794 "UMLS:C4225188" -MONDO:0012213 "ICD10:G11.4" MONDO:0012213 "MESH:C536862" MONDO:0012213 "GARD:0009587" MONDO:0012213 "Orphanet:101006" MONDO:0012213 "DOID:0110777" MONDO:0012213 "UMLS:C4511959" MONDO:0012213 "UMLS:C1836632" +MONDO:0012213 "ICD10CM:G11.4" MONDO:0012213 "SCTID:726607007" MONDO:0012213 "OMIM:609195" +MONDO:0009978 "ICD10CM:H35.5" MONDO:0009978 "UMLS:C2931831" MONDO:0009978 "GARD:0000395" MONDO:0009978 "OMIM:267760" MONDO:0009978 "Orphanet:1574" -MONDO:0009978 "ICD10:H35.5" MONDO:0009978 "SCTID:723503006" MONDO:0009978 "MESH:C538364" MONDO:0008724 "OMIM:201550" MONDO:0008724 "Orphanet:2952" -MONDO:0008724 "ICD10:Q74.8" +MONDO:0008724 "ICD10CM:Q74.8" MONDO:0020814 "SCTID:201191004" MONDO:0016738 "UMLS:CN201986" MONDO:0016738 "Orphanet:251995" @@ -39596,7 +38665,6 @@ MONDO:0013838 "UMLS:C3553358" MONDO:0013838 "DOID:0070240" NCBITaxon:186626 "GC_ID:1" MONDO:0018938 "OMIM:252300" -MONDO:0018938 "ICD10:E76.210" MONDO:0018938 "OMIM:253010" MONDO:0018938 "NCIT:C84901" MONDO:0018938 "GARD:0012562" @@ -39604,12 +38672,11 @@ MONDO:0018938 "OMIM:253000" MONDO:0018938 "SCTID:378007" MONDO:0018938 "UMLS:C0026707" MONDO:0018938 "DOID:12804" -MONDO:0018938 "ICD10:E76.2" MONDO:0018938 "MedDRA:10028095" MONDO:0018938 "SCTID:7259005" -MONDO:0018938 "ICD10:E76.219" MONDO:0018938 "NCIT:C61263" MONDO:0018938 "Orphanet:582" +MONDO:0018938 "ICD10CM:E76.2" HP:0000708 "UMLS:C0004941" HP:0000708 "SNOMEDCT_US:277843001" HP:0000708 "UMLS:C0233514" @@ -39619,13 +38686,13 @@ HP:0000708 "MSH:D001526" CL:1000491 "FMA:86737" MONDO:0013615 "UMLS:C3280073" MONDO:0013615 "OMIM:614188" -MONDO:0013615 "ICD10:Q87.0" +MONDO:0013615 "ICD10CM:Q87.0" MONDO:0013615 "Orphanet:284149" MONDO:0003272 "DOID:5088" MONDO:0011454 "UMLS:C1858420" -MONDO:0011454 "ICD10:Q87.2" MONDO:0011454 "MESH:C565782" MONDO:0011454 "Orphanet:228190" +MONDO:0011454 "ICD10CM:Q87.2" MONDO:0011454 "OMIM:604381" MONDO:0006789 "NCIT:C113755" MONDO:0006789 "MESH:D034321" @@ -39641,21 +38708,20 @@ MONDO:0007863 "MedDRA:10053712" MONDO:0007863 "DOID:0060165" MONDO:0007863 "NCIT:C84800" MONDO:0007863 "SCTID:111488004" -MONDO:0007863 "ICD10:G47.8" +MONDO:0007863 "ICD10CM:G47.8" NCBITaxon:6179 "GC_ID:1" NCBITaxon:1851469 "GC_ID:1" +MONDO:0005988 "EFO:0007516" +MONDO:0005988 "SCTID:406619001" MONDO:0005988 "MESH:D014120" -MONDO:0005988 "DOID:9790" -MONDO:0005988 "MESH:D007816" -MONDO:0005988 "ICD10:B83.0" -MONDO:0005988 "UMLS:C0040553" +MONDO:0005988 "ICD9:128.0" MONDO:0005988 "MedDRA:10044269" -MONDO:0005988 "SCTID:406619001" MONDO:0005988 "NCIT:C34758" -MONDO:0005988 "Orphanet:3343" +MONDO:0005988 "UMLS:C0040553" MONDO:0005988 "GARD:0007788" -MONDO:0005988 "ICD9:128.0" -MONDO:0005988 "EFO:0007516" +MONDO:0005988 "MESH:D007816" +MONDO:0005988 "Orphanet:3343" +MONDO:0005988 "DOID:9790" MONDO:0100165 "OMIM:606176" CL:0000062 "BTO:0001593" CL:0000062 "FMA:66780" @@ -39666,11 +38732,10 @@ MONDO:0005190 "ICD9:273.3" MONDO:0005190 "SCTID:190817009" MONDO:0005190 "DOID:9080" MONDO:0005190 "EFO:0002616" -MONDO:0005190 "ICD10:C88.0" MONDO:0005190 "Wikipedia:Macroglobulinemia" HP:0000309 "UMLS:C4021811" MONDO:0025986 "OMIMPS:249210" -MONDO:0018596 "ICD10:M30.0" +MONDO:0018596 "ICD10CM:M30.0" MONDO:0018596 "Orphanet:439762" MONDO:0018596 "UMLS:CN242146" MONDO:0018596 "UMLS:C0031036" @@ -39679,9 +38744,9 @@ MONDO:0010184 "SCTID:74653006" MONDO:0010184 "GARD:0012128" MONDO:0010184 "UMLS:CN205878" MONDO:0010184 "NCIT:C142174" +MONDO:0010184 "ICD10CM:E72.1" MONDO:0010184 "OMIM:277400" MONDO:0010184 "Orphanet:79282" -MONDO:0010184 "ICD10:E72.1" MONDO:0010184 "DOID:0050715" NCBITaxon:578835 "GC_ID:1" MONDO:0002377 "DOID:2656" @@ -39694,26 +38759,28 @@ MONDO:0011657 "DOID:0110554" MONDO:0011657 "UMLS:C1853451" MONDO:0011657 "OMIM:606282" MONDO:0011657 "GARD:0009166" -MONDO:0011657 "ICD10:H90.3" MONDO:0001490 "DOID:12318" MONDO:0001490 "ICD9:371.53" MONDO:0001490 "SCTID:45283008" MONDO:0001490 "UMLS:C0018179" -MONDO:0001490 "ICD10:H18.53" MONDO:0001490 "MESH:D003317" MONDO:0001490 "NCIT:C34651" +MONDO:0001490 "ICD10CM:H18.53" MONDO:0010442 "Orphanet:393" MONDO:0010442 "UMLS:C3151782" MONDO:0010442 "DOID:0111762" MONDO:0010442 "OMIM:300833" +MONDO:0044013 "ICD10CM:O85-O92" MONDO:0044013 "SCTID:362973001" MONDO:0044013 "MESH:D011644" +MONDO:0044013 "ICD10CM:O00-O9A" MONDO:0044013 "UMLS:C0034040" +MONDO:0044013 "ICD10CM:O10-O16" MONDO:0004690 "SCTID:363394001" MONDO:0004690 "DOID:8969" +MONDO:0004690 "ICD10CM:C09.0" MONDO:0004690 "ICD9:146.1" MONDO:0004690 "UMLS:C0153384" -MONDO:0004690 "ICD10:C09.0" NCBITaxon:1759442 "GC_ID:1" NCBITaxon:10258 "GC_ID:1" MONDO:0017851 "DOID:0050467" @@ -39721,6 +38788,7 @@ MONDO:0017851 "Orphanet:495" MONDO:0017851 "Orphanet:317" MONDO:0017851 "MedDRA:10049048" MONDO:0017851 "UMLS:C0265961" +MONDO:0017851 "ICD10CM:Q82.8" MONDO:0017851 "SCTID:70041004" MONDO:0017851 "MESH:D056266" MONDO:0017851 "NCIT:C84696" @@ -39728,19 +38796,18 @@ MONDO:0017851 "OMIM:133200" MONDO:0017851 "MESH:C536154" MONDO:0017851 "OMIMPS:133200" MONDO:0017851 "Orphanet:316" -MONDO:0017851 "ICD10:Q82.8" MONDO:0017851 "GARD:0003096" MONDO:0018783 "SCTID:399964004" MONDO:0018783 "UMLS:C1302753" MONDO:0018783 "ICD9:729.0" MONDO:0018783 "Orphanet:477650" -MONDO:0007230 "SCTID:720573009" +MONDO:0007230 "ICD10CM:Q87.1" MONDO:0007230 "GARD:0000918" MONDO:0007230 "MESH:C536242" MONDO:0007230 "OMIM:113477" -MONDO:0007230 "ICD10:Q87.1" MONDO:0007230 "Orphanet:1292" MONDO:0007230 "UMLS:C1862082" +MONDO:0007230 "SCTID:720573009" MONDO:0010898 "OMIM:616436" MONDO:0010898 "Orphanet:101046" MONDO:0010898 "GARD:0002257" @@ -39759,27 +38826,27 @@ HP:0003198 "MSH:D009135" HP:0003198 "SNOMEDCT_US:129565002" HP:0003198 "UMLS:C0026848" NCBITaxon:6300 "GC_ID:1" -MONDO:0015267 "NCIT:C74987" -MONDO:0015267 "OMIM:164280" -MONDO:0015267 "OMIM:614326" MONDO:0015267 "GARD:0008407" +MONDO:0015267 "ICD10CM:Q87.8" +MONDO:0015267 "OMIM:164280" +MONDO:0015267 "Orphanet:1305" MONDO:0015267 "DOID:0060464" +MONDO:0015267 "OMIM:614326" MONDO:0015267 "OMIMPS:164280" -MONDO:0015267 "Orphanet:1305" -MONDO:0015267 "ICD10:Q87.8" +MONDO:0015267 "NCIT:C74987" MONDO:0017381 "Orphanet:293" -MONDO:0017381 "ICD10:P35.2" MONDO:0017381 "GARD:0007173" +MONDO:0017381 "ICD10CM:P35.2" MONDO:0017381 "SCTID:91576008" MONDO:0017381 "UMLS:C0276225" MONDO:0017381 "GARD:0001486" MONDO:0017381 "ICD9:771.2" -MONDO:0017467 "ICD10:Q74.2" MONDO:0017467 "SCTID:737581000" +MONDO:0017467 "ICD10CM:Q74.2" MONDO:0017467 "Orphanet:295028" MONDO:0016213 "UMLS:CN226881" -MONDO:0016213 "ICD10:Q82.8" MONDO:0016213 "Orphanet:210133" +MONDO:0016213 "ICD10CM:Q82.8" MONDO:0030448 "OMIM:619549" MONDO:0014901 "OMIM:617073" MONDO:0014901 "UMLS:C4310730" @@ -39791,11 +38858,11 @@ MONDO:0013203 "OMIM:613267" MONDO:0013203 "Orphanet:98974" MONDO:0007737 "OMIM:236400" MONDO:0007737 "OMIM:143050" -MONDO:0007737 "ICD10:Q74.0" MONDO:0007737 "HP:0003041" MONDO:0007737 "GARD:0002748" MONDO:0007737 "DOID:0060467" MONDO:0007737 "ICD9:755.59" +MONDO:0007737 "ICD10CM:Q74.0" MONDO:0007737 "SCTID:205329008" MONDO:0007737 "Orphanet:3265" MONDO:0010969 "GARD:0010655" @@ -39805,7 +38872,6 @@ MONDO:0010969 "DOID:0111010" MONDO:0010969 "OMIM:600977" MONDO:0014828 "DOID:0090010" MONDO:0014828 "UMLS:C4310799" -MONDO:0014828 "ICD10:D84.8" MONDO:0014828 "OMIM:616910" MONDO:0017654 "Orphanet:306759" MONDO:0014605 "DOID:0070066" @@ -39816,25 +38882,25 @@ MONDO:0021080 "NCIT:C7387" HP:0000982 "SNOMEDCT_US:706885006" HP:0000982 "UMLS:C0022596" HP:0000982 "MSH:D007645" -MONDO:0032635 "OMIM:618252" MONDO:0002950 "DOID:4293" MONDO:0002950 "UMLS:C1516599" MONDO:0002950 "NCIT:C27536" +MONDO:0032635 "OMIM:618252" MONDO:0004111 "UMLS:C1335724" -MONDO:0004111 "DOID:712" MONDO:0004111 "NCIT:C27357" -MONDO:0001492 "ICD10:I27.1" +MONDO:0004111 "DOID:712" MONDO:0001492 "ICD9:416.1" MONDO:0001492 "UMLS:C0152102" MONDO:0001492 "DOID:12325" MONDO:0001492 "SCTID:45650007" +MONDO:0001492 "ICD10CM:I27.1" MONDO:0006978 "DOID:2533" MONDO:0006978 "EFO:1001190" MONDO:0006978 "GARD:0009973" MONDO:0006978 "ICD9:289.59" -MONDO:0006978 "ICD10:D73.5" MONDO:0006978 "MedDRA:10041648" MONDO:0006978 "UMLS:C0037998" +MONDO:0006978 "ICD10CM:D73.5" MONDO:0006978 "SCTID:22996003" MONDO:0006978 "MESH:D013159" MONDO:0019706 "UMLS:CN206618" @@ -39877,7 +38943,7 @@ MONDO:0002495 "NCIT:C7967" MONDO:0002495 "UMLS:C1707436" MONDO:0002495 "DOID:3033" MONDO:0001101 "UMLS:C0156321" -MONDO:0001101 "ICD10:N64.1" +MONDO:0001101 "ICD10CM:N64.1" MONDO:0001101 "SCTID:21381006" MONDO:0001101 "ICD9:611.3" MONDO:0001101 "DOID:10691" @@ -39891,8 +38957,8 @@ MONDO:0019572 "UMLS:CN206407" MONDO:0019572 "Orphanet:90349" MONDO:0019572 "OMIM:614437" MONDO:0019572 "GARD:8480" -MONDO:0019572 "ICD10:Q82.8" MONDO:0019572 "MESH:C536225" +MONDO:0019572 "ICD10CM:Q82.8" MONDO:0019572 "DOID:0070144" MONDO:0005871 "SCTID:84706005" MONDO:0005871 "MESH:D009349" @@ -39900,7 +38966,6 @@ MONDO:0005871 "UMLS:C0027583" MONDO:0005871 "EFO:0007391" NCBITaxon:1264872 "GC_ID:1" MONDO:0018375 "Orphanet:399175" -MONDO:0018375 "ICD10:M87.2" MONDO:0011659 "UMLS:C1853444" MONDO:0011659 "MESH:C565237" MONDO:0011659 "OMIM:606325" @@ -39929,9 +38994,9 @@ MONDO:0043459 "MESH:D000016" MONDO:0043459 "Orphanet:521132" MONDO:0043459 "UMLS:C1527225" MONDO:0043459 "SCTID:85983004" -MONDO:0009642 "ICD10:Q87.0" MONDO:0009642 "Orphanet:2751" MONDO:0009642 "OMIM:252100" +MONDO:0009642 "ICD10CM:Q87.0" MONDO:0009642 "ICD9:759.89" MONDO:0009642 "SCTID:1779005" MONDO:0009642 "GARD:0003701" @@ -39943,7 +39008,6 @@ HP:0001597 "MSH:D009260" MONDO:0020110 "ICD9:748.5" MONDO:0020110 "MedDRA:10037322" MONDO:0020110 "SCTID:66489009" -MONDO:0020110 "ICD10:Q33.3" MONDO:0020110 "Orphanet:984" MONDO:0020110 "GARD:0009119" MONDO:0020110 "UMLS:C0265780" @@ -39964,15 +39028,14 @@ MONDO:0000550 "UMLS:C1257877" MONDO:0008883 "UMLS:C1859393" MONDO:0008883 "OMIM:211369" MONDO:0008883 "MESH:C565894" -MONDO:0014208 "ICD10:G60.0" MONDO:0014208 "DOID:0110161" MONDO:0014208 "UMLS:C3809655" MONDO:0014208 "Orphanet:397968" MONDO:0014208 "OMIM:615490" MONDO:0014208 "GARD:0012451" -MONDO:0013438 "ICD10:Q04.3" -MONDO:0013438 "UMLS:C3151140" +MONDO:0014208 "ICD10CM:G60.0" MONDO:0013438 "Orphanet:2524" +MONDO:0013438 "UMLS:C3151140" MONDO:0013438 "OMIM:613811" MONDO:0013438 "DOID:0060270" MONDO:0003944 "DOID:6608" @@ -39983,7 +39046,7 @@ MONDO:0010737 "OMIM:313400" MONDO:0010737 "GARD:0004985" MONDO:0010737 "Orphanet:93284" MONDO:0020093 "Orphanet:98349" -MONDO:0020093 "ICD10:Q82.8" +MONDO:0020093 "ICD10CM:Q82.8" MONDO:0020093 "UMLS:CN229268" MONDO:0014903 "UMLS:C4310728" MONDO:0014903 "OMIM:617080" @@ -39991,9 +39054,9 @@ MONDO:0054732 "OMIM:618086" MONDO:0015046 "ICD9:273.2" MONDO:0015046 "GARD:0010346" MONDO:0015046 "SCTID:109984001" +MONDO:0015046 "ICD10CM:C88.2" MONDO:0015046 "DOID:0060127" MONDO:0015046 "Orphanet:100026" -MONDO:0015046 "ICD10:C88.2" MONDO:0015046 "NCIT:C3083" MONDO:0025556 "DOID:0040041" MONDO:0025556 "SCTID:404808000" @@ -40002,7 +39065,7 @@ MONDO:0025556 "ICD9:506.3" MONDO:0007894 "UMLS:C1835450" MONDO:0007894 "Orphanet:2900" MONDO:0007894 "OMIM:151200" -MONDO:0007894 "ICD10:Q68.8" +MONDO:0007894 "ICD10CM:Q68.8" MONDO:0007894 "MESH:C537118" MONDO:0007894 "GARD:0000088" MONDO:0024359 "ICD9:327.27" @@ -40013,11 +39076,11 @@ MONDO:0003298 "DOID:5142" MONDO:0003298 "NCIT:C40326" MONDO:0003298 "UMLS:C1520087" MONDO:0019980 "Orphanet:97362" +MONDO:0019980 "ICD10CM:Q60.4" MONDO:0019980 "SCTID:268232000" -MONDO:0019980 "ICD10:Q60.4" MONDO:0009055 "Orphanet:1556" MONDO:0009055 "HP:0025107" -MONDO:0009055 "ICD10:Q82.8" +MONDO:0009055 "ICD10CM:Q82.8" MONDO:0009055 "OMIM:219250" MONDO:0009055 "SCTID:254778000" MONDO:0009055 "MESH:C536226" @@ -40025,7 +39088,6 @@ MONDO:0009055 "ICD9:757.8" MONDO:0009055 "GARD:0006228" MONDO:0012090 "DOID:0110570" MONDO:0012090 "OMIM:608652" -MONDO:0012090 "ICD10:H90.3" MONDO:0012090 "UMLS:C1837609" MONDO:0012090 "Orphanet:90635" MONDO:0012090 "MESH:C563885" @@ -40043,7 +39105,6 @@ MONDO:0006674 "MESH:D054363" MONDO:0006674 "DOID:2653" MONDO:0004799 "ICD9:373.01" MONDO:0004799 "DOID:9483" -MONDO:0004799 "ICD10:H01.01" MONDO:0004799 "UMLS:C0155173" MONDO:0004799 "SCTID:91662004" NCBITaxon:452284 "GC_ID:1" @@ -40070,13 +39131,13 @@ MONDO:0013867 "OMIM:614707" MONDO:0013867 "UMLS:C3553538" MONDO:0013867 "GARD:0012861" MONDO:0013867 "HGNC:30224" -MONDO:0019004 "ICD10:C64" MONDO:0019004 "GARD:0007892" MONDO:0019004 "OMIM:194070" MONDO:0019004 "DOID:2154" MONDO:0019004 "NCIT:C40407" MONDO:0019004 "OMIM:601583" MONDO:0019004 "ICDO:8960/3" +MONDO:0019004 "ICD10CM:C64" MONDO:0019004 "UMLS:C0027708" MONDO:0019004 "SCTID:302849000" MONDO:0019004 "MedDRA:10029145" @@ -40104,13 +39165,13 @@ MONDO:0021542 "UMLS:C0346390" MONDO:0021542 "ICD9:228.09" MONDO:0021542 "SCTID:255022003" MONDO:0016853 "SCTID:763407008" +MONDO:0016853 "ICD10CM:Q98.6" MONDO:0016853 "Orphanet:261529" -MONDO:0016853 "ICD10:Q98.6" MONDO:0007139 "UMLS:C1862824" MONDO:0007139 "OMIM:107290" MONDO:0019225 "Orphanet:79177" +MONDO:0019225 "ICD10CM:E74.4" MONDO:0019225 "UMLS:CN227592" -MONDO:0019225 "ICD10:E74.4" FOODON:03302116 "SUBSET_SIREN:F2116" MONDO:0012780 "OMIM:612009" MONDO:0100354 "UMLS:C1608393" @@ -40119,7 +39180,7 @@ MONDO:0100354 "NCIT:C98982" MONDO:0100354 "UMLS:C1835084" MONDO:0100354 "UMLS:C0266833" MONDO:0100354 "Orphanet:2604" -MONDO:0100354 "ICD10:Q43.8" +MONDO:0100354 "ICD10CM:Q43.8" MONDO:0100354 "Orphanet:2241" MONDO:0100354 "GARD:0003442" MONDO:0100354 "MESH:C536138" @@ -40130,7 +39191,6 @@ MONDO:0019433 "UMLS:C2931171" MONDO:0019433 "NCIT:C119032" MONDO:0019433 "EFO:1002019" MONDO:0019433 "MESH:C536312" -MONDO:0019433 "ICD10:M08.4" MONDO:0019433 "GARD:0004261" MONDO:0019433 "UMLS:C3898105" MONDO:0019433 "Orphanet:85410" @@ -40143,11 +39203,9 @@ MONDO:0016924 "SCTID:726342002" MONDO:0016924 "Orphanet:262206" MONDO:0005357 "ICD9:046.1" MONDO:0005357 "GARD:0006956" -MONDO:0005357 "ICD10:A81.00" MONDO:0005357 "SCTID:792004" MONDO:0005357 "ICD9:046.19" MONDO:0005357 "NCIT:C26802" -MONDO:0005357 "ICD10:A81.0" MONDO:0005357 "EFO:0004226" MONDO:0005357 "DOID:11949" MONDO:0005357 "MESH:D007562" @@ -40170,6 +39228,7 @@ MONDO:0001765 "UMLS:C0154759" MONDO:0001765 "DOID:13649" MONDO:0001765 "SCTID:193177003" MONDO:0001765 "ICD9:357.4" +MONDO:0008733 "ICD10CM:E27.1" MONDO:0008733 "OMIMPS:202200" MONDO:0008733 "OMIM:609197" MONDO:0008733 "OMIM:607398" @@ -40181,7 +39240,6 @@ MONDO:0008733 "SCTID:765326001" MONDO:0008733 "OMIM:614736" MONDO:0008733 "GARD:0002498" MONDO:0008733 "DOID:0080620" -MONDO:0008733 "ICD10:E27.1" MONDO:0008733 "MESH:C565974" MONDO:0008733 "NCIT:C120446" MONDO:0042498 "UMLS:C2931438" @@ -40193,10 +39251,9 @@ MONDO:0019091 "Orphanet:70589" MONDO:0019091 "MESH:D001997" MONDO:0019091 "GARD:0005962" MONDO:0019091 "SCTID:67569000" -MONDO:0019091 "ICD10:P27.1" MONDO:0019091 "MedDRA:10006475" MONDO:0007536 "SCTID:66987001" -MONDO:0007536 "ICD10:Q33.8" +MONDO:0007536 "ICD10CM:Q33.8" MONDO:0007536 "MedDRA:10010456" MONDO:0007536 "NCIT:C98895" MONDO:0007536 "GARD:0002104" @@ -40206,10 +39263,9 @@ MONDO:0007536 "UMLS:C0265797" MONDO:0007536 "OMIM:130710" MONDO:0054850 "OMIM:618078" MONDO:0054850 "DOID:0080498" -MONDO:0024303 "ICD10:B88.3" MONDO:0024303 "UMLS:C0392037" MONDO:0024303 "SCTID:1086871000119109" -MONDO:0008047 "ICD10:G11.8" +MONDO:0024303 "ICD10CM:B88.3" MONDO:0008047 "DOID:0050989" MONDO:0008047 "Orphanet:37612" MONDO:0008047 "UMLS:CN042654" @@ -40217,6 +39273,7 @@ MONDO:0008047 "UMLS:C1719788" MONDO:0008047 "SCTID:421182009" MONDO:0008047 "Orphanet:972" MONDO:0008047 "OMIM:160120" +MONDO:0008047 "ICD10CM:G11.8" MONDO:0014599 "DOID:0070064" MONDO:0014599 "OMIM:616351" MONDO:0005544 "EFO:0005678" @@ -40225,8 +39282,8 @@ MONDO:0001952 "SCTID:363469001" MONDO:0001952 "NCIT:C5573" MONDO:0001952 "ICD9:191.3" MONDO:0001952 "DOID:14384" -MONDO:0001952 "ICD10:C71.3" MONDO:0001952 "UMLS:C1263888" +MONDO:0001952 "ICD10CM:C71.3" MONDO:0001952 "UMLS:C0153637" MONDO:0001952 "SCTID:126956001" MONDO:0008920 "UMLS:C1859318" @@ -40254,13 +39311,12 @@ MONDO:0006089 "ONCOTREE:GCCAP" MONDO:0012428 "OMIM:610170" MONDO:0012428 "UMLS:C1857795" MONDO:0012428 "MESH:C565711" -MONDO:0001132 "ICD10:F65.52" MONDO:0001132 "SCTID:59394009" MONDO:0001132 "ICD9:302.84" MONDO:0001132 "NCIT:C94358" MONDO:0001132 "MESH:D012448" +MONDO:0001132 "ICD10CM:F65.52" MONDO:0001132 "DOID:10817" -MONDO:0007035 "ICD10:L83" MONDO:0007035 "Orphanet:924" MONDO:0007035 "UMLS:C0000889" MONDO:0007035 "SCTID:402599005" @@ -40271,6 +39327,7 @@ MONDO:0007035 "DOID:3138" MONDO:0007035 "OMIM:200170" MONDO:0007035 "Wikipedia:Acanthosis_nigricans" MONDO:0007035 "HP:0000956" +MONDO:0007035 "ICD10CM:L83" MONDO:0005723 "EFO:0007228" MONDO:0005723 "MESH:D016919" MONDO:0005723 "SCTID:14232007" @@ -40280,10 +39337,8 @@ NCBITaxon:33677 "GC_ID:1" MONDO:0011259 "OMIM:602594" MONDO:0011259 "Orphanet:791" MONDO:0011259 "DOID:0110400" -MONDO:0011259 "ICD10:H35.5" MONDO:0011259 "UMLS:C3887981" MONDO:0011259 "GARD:0010393" -MONDO:0015664 "ICD10:E25.7" MONDO:0015664 "Orphanet:1676" MONDO:0015664 "GARD:0006757" MONDO:0024524 "UMLS:C2675711" @@ -40292,13 +39347,12 @@ MONDO:0024524 "MESH:C567273" MONDO:0024524 "OMIM:127500" MONDO:0001588 "ICD9:375.03" MONDO:0001588 "DOID:12809" -MONDO:0001588 "ICD10:H04.03" MONDO:0001588 "UMLS:C1300133" MONDO:0001588 "SCTID:4839005" MONDO:0003788 "DOID:6162" MONDO:0003788 "NCIT:C6545" MONDO:0003788 "UMLS:C1333007" -MONDO:0017186 "ICD10:E16.1" +MONDO:0017186 "ICD10CM:E16.1" MONDO:0017186 "Orphanet:276585" MONDO:0002534 "NCIT:C40112" MONDO:0002534 "DOID:3173" @@ -40308,7 +39362,6 @@ MONDO:0010380 "UMLS:C1845094" MONDO:0010380 "OMIM:300619" MONDO:0010380 "MESH:C535345" MONDO:0017843 "SCTID:18620009" -MONDO:0017843 "ICD10:Q33.2" MONDO:0017843 "UMLS:C4020703" MONDO:0017843 "GARD:0004593" MONDO:0017843 "Orphanet:3161" @@ -40319,9 +39372,9 @@ MONDO:0013869 "GARD:0010666" MONDO:0013869 "Orphanet:976" MONDO:0013869 "DOID:0060350" MONDO:0013869 "SCTID:124274002" +MONDO:0013869 "ICD10CM:E79.8" MONDO:0013869 "OMIM:614723" MONDO:0013869 "MESH:C538228" -MONDO:0013869 "ICD10:E79.8" MONDO:0013869 "GARD:0000546" MONDO:0013869 "UMLS:C0268120" MONDO:0004964 "EFO:0000211" @@ -40334,6 +39387,7 @@ MONDO:0009807 "NCIT:C9145" MONDO:0009807 "ONCOTREE:OS" MONDO:0009807 "EFO:0000637" MONDO:0009807 "HP:0002669" +MONDO:0010247 "ICD10CM:E71.3" MONDO:0010247 "Orphanet:139399" MONDO:0010247 "UMLS:CN199389" MONDO:0010247 "Orphanet:43" @@ -40341,81 +39395,78 @@ MONDO:0010247 "UMLS:CN036464" MONDO:0010247 "GARD:0009412" MONDO:0010247 "Orphanet:139396" MONDO:0010247 "OMIM:300100" -MONDO:0010247 "ICD10:E71.3" MONDO:0005910 "EFO:0007433" MONDO:0005910 "DOID:3262" MONDO:0005910 "UMLS:C0031306" MONDO:0005910 "MESH:D010585" -MONDO:0020312 "ICD10:C92.2" MONDO:0020312 "DOID:0060597" MONDO:0020312 "Orphanet:98824" MONDO:0020312 "MedDRA:10054651" MONDO:0020312 "NCIT:C3519" HP:0000163 "UMLS:C4025887" -MONDO:0017069 "ICD10:Q05.9" -MONDO:0017069 "ICD10:Q05.4" -MONDO:0017069 "ICD10:Q05.0" -MONDO:0017069 "ICD10:Q05.7" -MONDO:0017069 "ICD10:Q05.2" +MONDO:0017069 "ICD10CM:Q05.9" MONDO:0017069 "NCIT:C101201" -MONDO:0017069 "Orphanet:268744" -MONDO:0017069 "ICD10:Q05.5" -MONDO:0017069 "ICD10:Q05.1" -MONDO:0017069 "ICD10:Q05.6" -MONDO:0017069 "ICD10:Q05.3" -MONDO:0017069 "ICD10:Q05.8" +MONDO:0017069 "ICD10CM:Q05.0" +MONDO:0017069 "ICD10CM:Q05.7" MONDO:0017069 "MESH:D016137" +MONDO:0017069 "ICD10CM:Q05.1" +MONDO:0017069 "ICD10CM:Q05.2" +MONDO:0017069 "ICD10CM:Q05.4" MONDO:0017069 "MedDRA:10071011" +MONDO:0017069 "Orphanet:268744" +MONDO:0017069 "ICD10CM:Q05.8" +MONDO:0017069 "ICD10CM:Q05.3" +MONDO:0017069 "ICD10CM:Q05.5" +MONDO:0017069 "ICD10CM:Q05.6" MONDO:0003975 "UMLS:C1516285" MONDO:0003975 "NCIT:C39865" MONDO:0003975 "DOID:6721" +MONDO:0009465 "ICD10CM:Q82.8" +MONDO:0009465 "MESH:C562441" MONDO:0009465 "Orphanet:2300" +MONDO:0009465 "GARD:0003013" +MONDO:0009465 "MedDRA:10028210" +MONDO:0009465 "ICD10CM:Q43.8" +MONDO:0009465 "SCTID:95472001" MONDO:0009465 "OMIM:243150" -MONDO:0009465 "ICD10:Q43.8" MONDO:0009465 "DOID:14671" -MONDO:0009465 "ICD10:Q82.8" -MONDO:0009465 "MESH:C562441" MONDO:0009465 "ICD9:751.8" -MONDO:0009465 "MedDRA:10028210" -MONDO:0009465 "GARD:0003013" -MONDO:0009465 "SCTID:95472001" +MONDO:0005136 "ICD10CM:B51.8" +MONDO:0005136 "ICD10CM:B53.0" MONDO:0005136 "UMLS:C0024530" +MONDO:0005136 "ICD10CM:B51.0" MONDO:0005136 "DOID:12365" -MONDO:0005136 "ICD10:B50.0" MONDO:0005136 "SCTID:61462000" -MONDO:0005136 "ICD10:B51.8" +MONDO:0005136 "ICD10CM:B54" +MONDO:0005136 "ICD10CM:B50.9" MONDO:0005136 "MedDRA:10025487" -MONDO:0005136 "ICD10:B52.9" -MONDO:0005136 "ICD10:B51.0" +MONDO:0005136 "ICD10CM:B51.9" +MONDO:0005136 "ICD10CM:B53.1" MONDO:0005136 "OMIM:611162" MONDO:0005136 "Orphanet:673" -MONDO:0005136 "ICD10:B53.8" -MONDO:0005136 "ICD10:B52.8" +MONDO:0005136 "ICD10CM:B50.8" +MONDO:0005136 "ICD10CM:B52.8" +MONDO:0005136 "ICD10CM:B52.9" MONDO:0005136 "EFO:0001068" -MONDO:0005136 "ICD10:B53" +MONDO:0005136 "ICD10CM:B50.0" MONDO:0005136 "ICD9:084.6" -MONDO:0005136 "ICD10:B53.0" +MONDO:0005136 "ICD10CM:B52.0" MONDO:0005136 "ICD9:084" -MONDO:0005136 "ICD10:B52.0" +MONDO:0005136 "ICD10CM:B53" MONDO:0005136 "GARD:0006961" -MONDO:0005136 "ICD10:B51.9" MONDO:0005136 "NCIT:C34797" -MONDO:0005136 "ICD10:B50.8" -MONDO:0005136 "ICD10:B54" -MONDO:0005136 "ICD10:B50.9" -MONDO:0005136 "ICD10:B53.1" +MONDO:0005136 "ICD10CM:B53.8" MONDO:0005136 "MESH:D008288" MONDO:0005136 "OMIM:609148" MONDO:0014074 "GARD:0009206" MONDO:0014074 "OMIM:615185" -MONDO:0014074 "ICD10:G60.0" +MONDO:0014074 "ICD10CM:G60.0" MONDO:0014074 "DOID:0110206" MONDO:0014074 "Orphanet:352670" MONDO:0014074 "UMLS:C3554654" MONDO:0011688 "MESH:C564691" MONDO:0011688 "Orphanet:52428" MONDO:0011688 "UMLS:C1847759" -MONDO:0011688 "ICD10:G71.2" MONDO:0011688 "DOID:0110635" MONDO:0011688 "OMIM:606612" MONDO:0011688 "Orphanet:370968" @@ -40436,7 +39487,6 @@ CL:0000765 "FMA:83504" CL:0000765 "CALOHA:TS-0289" CL:0000765 "BTO:0001571" MONDO:0033561 "OMIM:619004" -MONDO:0019668 "ICD10:D13.6" MONDO:0019668 "UMLS:C4076724" MONDO:0019668 "MedDRA:10058902" MONDO:0019668 "MESH:C538110" @@ -40444,25 +39494,25 @@ MONDO:0019668 "UMLS:C1142432" MONDO:0019668 "SCTID:208061000119101" MONDO:0019668 "Orphanet:93292" MONDO:0019668 "GARD:0004204" +MONDO:0019668 "ICD10CM:D13.6" MONDO:0000858 "DOID:0080072" MONDO:0000858 "UMLS:C0345244" MONDO:0000858 "OMIM:243180" MONDO:0000858 "OMIM:601223" MONDO:0000858 "ICD9:751.5" MONDO:0000858 "SCTID:253783001" -MONDO:0001804 "ICD10:H15.01" MONDO:0001804 "DOID:13794" MONDO:0001804 "SCTID:63454000" MONDO:0001804 "UMLS:C0155353" MONDO:0001804 "ICD9:379.03" -MONDO:0016057 "ICD10:Q01.0" -MONDO:0016057 "ICD10:Q01.8" -MONDO:0016057 "ICD10:Q01.2" -MONDO:0016057 "ICD10:Q01.1" -MONDO:0016057 "ICD10:Q01.9" MONDO:0016057 "MedDRA:10014617" +MONDO:0016057 "ICD10CM:Q01.0" MONDO:0016057 "GARD:0006333" +MONDO:0016057 "ICD10CM:Q01.1" MONDO:0016057 "Orphanet:199647" +MONDO:0016057 "ICD10CM:Q01.8" +MONDO:0016057 "ICD10CM:Q01.2" +MONDO:0016057 "ICD10CM:Q01.9" CL:0000670 "FMA:70567" MONDO:0012292 "OMIM:609532" MONDO:0012292 "UMLS:C2750389" @@ -40476,26 +39526,24 @@ MONDO:0100215 "Orphanet:178506" MONDO:0100215 "UMLS:C3150910" MONDO:0100215 "OMIM:618007" MONDO:0100215 "OMIM:613658" -MONDO:0023682 "GTR:AN0102047" -MONDO:0023682 "NCIT:C8428" -MONDO:0023682 "UMLS:C0474820" -MONDO:0023682 "SCTID:253031000" -MONDO:0023682 "MESH:D043604" -MONDO:0023682 "GTR:AN0102048" -MONDO:0001063 "ICD10:C16.0" MONDO:0001063 "SCTID:187732006" MONDO:0001063 "DOID:10548" MONDO:0001063 "ICD9:151.0" MONDO:0001063 "UMLS:C0153417" -MONDO:0017459 "ICD10:Q69.2" +MONDO:0017459 "ICD10CM:Q69.2" MONDO:0017459 "Orphanet:295010" MONDO:0017459 "SCTID:253967005" +MONDO:0023682 "GTR:AN0102047" +MONDO:0023682 "NCIT:C8428" +MONDO:0023682 "UMLS:C0474820" +MONDO:0023682 "SCTID:253031000" +MONDO:0023682 "MESH:D043604" +MONDO:0023682 "GTR:AN0102048" PO:0009009 "PO_GIT:92" -MONDO:0015298 "ICD10:H18.7" +MONDO:0015298 "ICD10CM:H18.7" MONDO:0015298 "GARD:0011895" MONDO:0015298 "Orphanet:137672" MONDO:0015298 "UMLS:CN199253" -MONDO:0019889 "ICD10:Q92.3" MONDO:0019889 "SCTID:764512003" MONDO:0019889 "Orphanet:96109" MONDO:0008336 "OMIM:177990" @@ -40508,15 +39556,11 @@ MONDO:0018401 "Orphanet:399853" MONDO:0008512 "UMLS:C4275033" MONDO:0008512 "Orphanet:1527" MONDO:0008512 "GARD:0005081" -MONDO:0008512 "ICD10:Q70.2" MONDO:0008512 "OMIM:609815" -MONDO:0008512 "ICD10:Q70.0" MONDO:0008512 "Orphanet:93402" MONDO:0008512 "OMIM:185900" MONDO:0008512 "UMLS:C1861380" MONDO:0008512 "SCTID:715723008" -MONDO:0008512 "ICD10:Q70.1" -MONDO:0008512 "ICD10:Q70.3" MONDO:0012175 "MESH:C563812" MONDO:0012175 "UMLS:C1836942" MONDO:0012175 "DOID:0110244" @@ -40525,15 +39569,16 @@ MONDO:0002168 "UMLS:C1335688" MONDO:0002168 "NCIT:C5548" MONDO:0002168 "DOID:1995" MONDO:0013362 "OMIM:613680" -MONDO:0013362 "ICD10:Q87.0" +MONDO:0013362 "ICD10CM:Q87.0" MONDO:0013362 "Orphanet:363444" MONDO:0013362 "UMLS:C3150939" MONDO:0016526 "Orphanet:236" MONDO:0016526 "UMLS:C0265428" +MONDO:0016526 "GARD:0005364" +MONDO:0016526 "Orphanet:262767" MONDO:0016526 "ICD10:Q92.2" MONDO:0020189 "Orphanet:98599" MONDO:0003619 "NCIT:C26880" -MONDO:0003619 "ICD10:N70.91" MONDO:0003619 "DOID:5733" MONDO:0003619 "MESH:D012488" MONDO:0003619 "SCTID:88157006" @@ -40541,15 +39586,15 @@ MONDO:0003619 "UMLS:C0036130" HP:0011843 "UMLS:C4023164" MONDO:0019902 "Orphanet:96168" MONDO:0019902 "SCTID:766716004" -MONDO:0019902 "ICD10:Q93.5" +MONDO:0019902 "ICD10CM:Q93.5" MONDO:0011370 "OMIM:603786" MONDO:0011370 "Orphanet:827" MONDO:0011370 "UMLS:C1863534" MONDO:0011370 "MESH:C535521" MONDO:0015306 "SCTID:52542005" -MONDO:0015306 "ICD10:I80.8" MONDO:0015306 "ICD9:040.3" MONDO:0015306 "Orphanet:137839" +MONDO:0015306 "ICD10CM:I80.8" MONDO:0015306 "MedDRA:10065552" MONDO:0015306 "DOID:11337" MONDO:0015306 "GARD:0006882" @@ -40569,6 +39614,8 @@ MONDO:0014764 "OMIM:616756" MONDO:0014764 "Orphanet:464282" MONDO:0014764 "UMLS:C4225215" MONDO:0100081 "NCIT:C3376" +MONDO:0100081 "ICD10CM:G40-G47" +MONDO:0100081 "ICD10CM:F50-F59" MONDO:0017130 "Orphanet:271844" MONDO:0015514 "UMLS:CN237424" MONDO:0015514 "MESH:D006130" @@ -40578,10 +39625,10 @@ MONDO:0019256 "Orphanet:79226" MONDO:0037740 "UMLS:C1334571" MONDO:0037740 "NCIT:C6758" MONDO:0000355 "GARD:0004769" +MONDO:0000355 "ICD10CM:G71.2" MONDO:0000355 "NCIT:C123438" MONDO:0000355 "SCTID:240062007" MONDO:0000355 "DOID:0050558" -MONDO:0000355 "ICD10:G71.2" MONDO:0000355 "MESH:C537521" MONDO:0000355 "Orphanet:75840" MONDO:0000355 "OMIM:616470" @@ -40590,7 +39637,6 @@ MONDO:0000355 "OMIM:254090" MONDO:0000355 "UMLS:C0410179" MONDO:0001438 "DOID:12123" MONDO:0001438 "SCTID:266368002" -MONDO:0001438 "ICD10:J84.10" MONDO:0001438 "ICD9:515" MONDO:0001438 "UMLS:C0175999" MONDO:0009244 "OMIM:229250" @@ -40605,10 +39651,10 @@ MONDO:0006126 "UMLS:C0854488" MONDO:0006126 "NCIT:C5501" MONDO:0007200 "SCTID:717913006" MONDO:0007200 "UMLS:C0796197" -MONDO:0007200 "ICD10:Q87.0" MONDO:0007200 "OMIM:110050" MONDO:0007200 "MESH:C536303" MONDO:0007200 "Orphanet:1252" +MONDO:0007200 "ICD10CM:Q87.0" MONDO:0007200 "GARD:0004238" NCBITaxon:5598 "PMID:24014900" NCBITaxon:5598 "GC_ID:1" @@ -40618,18 +39664,17 @@ MONDO:0010718 "GARD:0004633" MONDO:0010718 "OMIM:312190" MONDO:0010718 "Orphanet:3016" MONDO:0010718 "UMLS:C1839410" -MONDO:0015172 "ICD10:P78.3" MONDO:0015172 "UMLS:CN226615" MONDO:0015172 "Orphanet:103912" -MONDO:0018395 "ICD10:N46" +MONDO:0015172 "ICD10CM:P78.3" +MONDO:0018395 "ICD10CM:N46" MONDO:0018395 "UMLS:CN227341" MONDO:0018395 "Orphanet:399813" -MONDO:0018571 "ICD10:Q87.0" +MONDO:0018571 "ICD10CM:Q87.0" MONDO:0018571 "UMLS:CN237584" MONDO:0018571 "Orphanet:436003" MONDO:0007699 "NCIT:C27191" MONDO:0007699 "Orphanet:855" -MONDO:0007699 "ICD10:E06.3" MONDO:0007699 "UMLS:C0677607" MONDO:0007699 "MESH:D013967" MONDO:0007699 "DOID:7188" @@ -40638,17 +39683,18 @@ MONDO:0007699 "Wikipedia:Hashimoto's_thyroiditis" MONDO:0007699 "EFO:0003779" MONDO:0007699 "ICD9:245.2" MONDO:0007699 "OMIM:608175" +MONDO:0007699 "ICD10CM:E06.3" MONDO:0007699 "OMIM:140300" FOODON:03307455 "SUBSET_SIREN:F7455" +MONDO:0001625 "ICD10CM:N83.1" MONDO:0001625 "DOID:13050" -MONDO:0001625 "ICD10:N83.1" MONDO:0001625 "SCTID:386762009" MONDO:0001625 "ICD9:620.1" +MONDO:0017351 "ICD10CM:E72.3" MONDO:0017351 "ICD9:270.8" MONDO:0017351 "Orphanet:289832" MONDO:0017351 "SCTID:237929000" MONDO:0017351 "ICD9:270.7" -MONDO:0017351 "ICD10:E72.3" MONDO:0007528 "OMIM:130090" MONDO:0007528 "MESH:C562424" MONDO:0007528 "UMLS:C0220679" @@ -40662,15 +39708,15 @@ MONDO:0021639 "NCIT:C132505" MONDO:0044990 "UMLS:C1290871" MONDO:0044990 "SCTID:118933004" MONDO:0010412 "MESH:C567471" -MONDO:0010412 "ICD10:Q87.8" MONDO:0010412 "OMIM:300712" MONDO:0010412 "UMLS:C2678036" +MONDO:0010412 "ICD10CM:Q87.8" MONDO:0010412 "Orphanet:163979" MONDO:0012929 "MESH:C567261" -MONDO:0012929 "ICD10:G71.2" MONDO:0012929 "DOID:0080101" MONDO:0012929 "UMLS:C2675527" MONDO:0012929 "OMIM:612540" +MONDO:0012929 "ICD10CM:G71.2" MONDO:0012929 "Orphanet:210163" MONDO:0030258 "OMIM:619301" MONDO:0016001 "UMLS:C2746066" @@ -40680,7 +39726,7 @@ MONDO:0016001 "SCTID:698870008" MONDO:0016001 "MESH:C535306" MONDO:0016001 "GARD:0010761" MONDO:0016001 "Orphanet:19" -MONDO:0016001 "ICD10:E72.8" +MONDO:0016001 "ICD10CM:E72.8" MONDO:0016001 "DOID:0050573" HP:0003355 "UMLS:C4020843" HP:0003355 "UMLS:C0238621" @@ -40688,9 +39734,9 @@ HP:0003355 "SNOMEDCT_US:35912001" MONDO:0054726 "OMIM:617706" MONDO:0054726 "DOID:0070177" MONDO:0019518 "Orphanet:897" +MONDO:0019518 "ICD10CM:Q87.8" MONDO:0019518 "UMLS:CN206330" MONDO:0019518 "OMIM:277580" -MONDO:0019518 "ICD10:Q87.8" MONDO:0019518 "GARD:0005524" MONDO:0019518 "NCIT:C124842" MONDO:0019518 "OMIM:613266" @@ -40701,7 +39747,6 @@ MONDO:0006297 "NCIT:C6239" MONDO:0006297 "EFO:1000365" MONDO:0006297 "UMLS:C1334643" MONDO:0002053 "HP:0001325" -MONDO:0002053 "ICD10:E15" MONDO:0002053 "SCTID:267384006" MONDO:0002053 "ICD9:251.0" MONDO:0002053 "UMLS:C0020617" @@ -40711,24 +39756,24 @@ MONDO:0008115 "Orphanet:1305" MONDO:0008115 "ICD9:759.89" MONDO:0008115 "UMLS:CN204984" MONDO:0008115 "Orphanet:391641" -MONDO:0008115 "ICD10:Q87.8" +MONDO:0008115 "ICD10CM:Q87.8" MONDO:0008115 "SCTID:702431004" MONDO:0018792 "UMLS:CN776904" MONDO:0018792 "Orphanet:477771" -MONDO:0009673 "OMIM:253550" -MONDO:0009673 "DOID:0050530" -MONDO:0009673 "SCTID:128212001" MONDO:0009673 "MESH:C536879" -MONDO:0009673 "ICD10:G12.1" -MONDO:0009673 "Orphanet:70" -MONDO:0009673 "GARD:0004945" MONDO:0009673 "Orphanet:83418" +MONDO:0009673 "ICD10CM:G12.1" +MONDO:0009673 "Orphanet:70" MONDO:0009673 "ICD9:335.19" +MONDO:0009673 "GARD:0004945" +MONDO:0009673 "DOID:0050530" +MONDO:0009673 "SCTID:128212001" +MONDO:0009673 "OMIM:253550" MONDO:0013165 "DOID:0110797" MONDO:0013165 "OMIM:613162" MONDO:0013165 "SCTID:765753004" +MONDO:0013165 "ICD10CM:G11.4" MONDO:0013165 "UMLS:CN203996" -MONDO:0013165 "ICD10:G11.4" MONDO:0013165 "Orphanet:320396" NCBITaxon:2499398 "GC_ID:1" MONDO:0011853 "OMIM:607539" @@ -40738,10 +39783,10 @@ CL:0002242 "FMA:67513" MONDO:0044718 "UMLS:CN603947" MONDO:0044718 "OMIM:617762" MONDO:0044718 "Orphanet:502444" -MONDO:0012364 "ICD10:I42.0" MONDO:0012364 "OMIM:609915" MONDO:0012364 "UMLS:C1835926" MONDO:0012364 "DOID:0110442" +MONDO:0012364 "ICD10CM:I42.0" MONDO:0012364 "MESH:C563688" NCBITaxon:1224679 "GC_ID:1" MONDO:0043653 "UMLS:C0019345" @@ -40765,7 +39810,7 @@ MONDO:0016222 "ICDO:9136/1" MONDO:0016222 "DOID:496" MONDO:0016222 "EFO:0002856" MONDO:0016222 "NCIT:C4754" -MONDO:0016222 "ICD10:D18.0" +MONDO:0016222 "ICD10CM:D18.0" MONDO:0016222 "SCTID:403967000" MONDO:0014543 "UMLS:C4015597" MONDO:0014543 "Orphanet:590" @@ -40778,22 +39823,20 @@ HP:0007313 "UMLS:C0154671" HP:0007313 "SNOMEDCT_US:418143002" NCBITaxon:562 "GC_ID:11" NCBITaxon:562 "PMID:10319482" -MONDO:0018291 "ICD10:E77.8" MONDO:0018291 "Orphanet:371188" +MONDO:0018291 "ICD10CM:E77.8" MONDO:0005546 "NCIT:C87497" MONDO:0005546 "EFO:0005687" MONDO:0005546 "MESH:D005356" MONDO:0005546 "SCTID:203082005" -MONDO:0005546 "ICD10:M79.1" MONDO:0005546 "ICD9:729.1" MONDO:0005546 "Orphanet:41842" MONDO:0005546 "GARD:0012069" -MONDO:0005546 "ICD10:M79.7" +MONDO:0005546 "ICD10CM:M79.7" MONDO:0005546 "UMLS:C0016053" MONDO:0005546 "DOID:631" MONDO:0001217 "GARD:0008446" MONDO:0001217 "NCIT:C35196" -MONDO:0001217 "ICD10:H10.22" MONDO:0001217 "SCTID:72115001" MONDO:0001217 "DOID:11190" MONDO:0001217 "UMLS:C0155144" @@ -40805,28 +39848,28 @@ MONDO:0043152 "MESH:C538347" MONDO:0043152 "GARD:0003931" MONDO:0043152 "UMLS:C2931825" MONDO:0008922 "SCTID:717812000" +MONDO:0008922 "ICD10CM:Q87.8" MONDO:0008922 "Orphanet:1369" MONDO:0008922 "GARD:0001142" MONDO:0008922 "UMLS:C1859317" MONDO:0008922 "OMIM:212350" MONDO:0008922 "OMIM:615418" MONDO:0008922 "MESH:C538280" -MONDO:0008922 "ICD10:Q87.8" MONDO:0008922 "DOID:0080132" MONDO:0016918 "Orphanet:262164" -MONDO:0016918 "ICD10:Q93.5" +MONDO:0016918 "ICD10CM:Q93.5" MONDO:0012585 "OMIM:610938" MONDO:0044235 "OMIM:139900" MONDO:0013531 "SCTID:124432005" -MONDO:0013531 "ICD10:E72.8" +MONDO:0013531 "ICD10CM:E72.8" MONDO:0013531 "Orphanet:79350" MONDO:0013531 "OMIM:614023" MONDO:0013531 "UMLS:C1291463" MONDO:0013531 "DOID:0050724" MONDO:0013531 "ICD9:277.6" MONDO:0015749 "UMLS:CN200301" +MONDO:0015749 "ICD10CM:Q93.5" MONDO:0015749 "Orphanet:171829" -MONDO:0015749 "ICD10:Q93.5" MONDO:0014614 "OMIM:616389" MONDO:0014614 "UMLS:C4225345" MONDO:0014614 "DOID:0110714" @@ -40861,8 +39904,8 @@ MONDO:0032926 "OMIM:618804" MONDO:0012772 "MESH:C567446" MONDO:0012772 "OMIM:611961" MONDO:0012772 "UMLS:C2677763" -MONDO:0016392 "ICD10:Q04.3" MONDO:0016392 "Orphanet:2246" +MONDO:0016392 "ICD10CM:Q04.3" MONDO:0016392 "GARD:0001196" MONDO:0016392 "DOID:0070339" MONDO:0016392 "OMIM:213000" @@ -40891,13 +39934,11 @@ MONDO:0004417 "UMLS:C1512741" MONDO:0023084 "GARD:0002177" MONDO:0005349 "OMIM:608484" MONDO:0005349 "Orphanet:2794" -MONDO:0005349 "ICD10:H80.8" MONDO:0005349 "OMIM:615589" MONDO:0005349 "HP:0000362" MONDO:0005349 "OMIMPS:166800" MONDO:0005349 "MESH:D010040" MONDO:0005349 "OMIM:605727" -MONDO:0005349 "ICD10:H80.80" MONDO:0005349 "OMIM:166800" MONDO:0005349 "OMIM:612096" MONDO:0005349 "SCTID:11543004" @@ -40924,9 +39965,9 @@ MONDO:0009105 "SCTID:703406006" MONDO:0009105 "OMIM:614602" MONDO:0009105 "DOID:0111414" MONDO:0009105 "GARD:0005258" -MONDO:0014159 "ICD10:G11.1" MONDO:0014159 "OMIM:615386" MONDO:0014159 "Orphanet:352403" +MONDO:0014159 "ICD10CM:G11.1" MONDO:0014159 "DOID:0080058" MONDO:0014159 "UMLS:C3809327" MONDO:0014159 "SCTID:763351003" @@ -40948,34 +39989,39 @@ MONDO:0024264 "Orphanet:95720" MONDO:0024264 "OMIM:218700" MONDO:0024264 "DOID:0070124" MONDO:0024264 "Orphanet:95719" -MONDO:0024264 "ICD10:E03.1" +MONDO:0013354 "ICD10CM:G11.4" MONDO:0013354 "Orphanet:254343" MONDO:0013354 "DOID:0050943" -MONDO:0013354 "ICD10:G11.4" MONDO:0013354 "GARD:0010992" MONDO:0013354 "OMIM:613672" MONDO:0013354 "UMLS:C3150925" MONDO:0013354 "UMLS:CN230090" +MONDO:0003273 "UMLS:C1382025" +MONDO:0003273 "DOID:5090" +MONDO:0003273 "SCTID:126559003" +MONDO:0003273 "NCIT:C8408" +MONDO:0003273 "NCIT:C6730" +MONDO:0003273 "UMLS:C1290244" MONDO:0005021 "OMIM:115200" MONDO:0005021 "KEGG:05414" MONDO:0005021 "NCIT:C84673" +MONDO:0005021 "ICD10CM:I42.0" MONDO:0005021 "ICD9:425.4" MONDO:0005021 "OMIM:615916" MONDO:0005021 "MESH:D002311" MONDO:0005021 "SCTID:195021004" MONDO:0005021 "HP:0001644" MONDO:0005021 "EFO:0000407" -MONDO:0005021 "ICD10:I42.0" MONDO:0005021 "MedDRA:10056370" MONDO:0005021 "MP:0002795" MONDO:0005021 "DOID:12930" MONDO:0005021 "Orphanet:217604" MONDO:0005021 "UMLS:C0007193" +MONDO:0000050 "ICD10CM:E23.0" MONDO:0000050 "OMIM:262400" MONDO:0000050 "OMIM:262650" MONDO:0000050 "Orphanet:631" MONDO:0000050 "SCTID:2109003" -MONDO:0000050 "ICD10:E23.0" MONDO:0000050 "OMIM:173100" MONDO:0000050 "MedDRA:10035083" MONDO:0000050 "OMIM:300123" @@ -40984,25 +40030,18 @@ MONDO:0000050 "DOID:0060870" MONDO:0000050 "OMIM:612781" MONDO:0000050 "OMIM:307200" MONDO:0000050 "OMIMPS:262400" -MONDO:0003273 "UMLS:C1382025" -MONDO:0003273 "DOID:5090" -MONDO:0003273 "SCTID:126559003" -MONDO:0003273 "NCIT:C8408" -MONDO:0003273 "NCIT:C6730" -MONDO:0003273 "UMLS:C1290244" MONDO:0008538 "MedDRA:10018250" MONDO:0008538 "GARD:0009615" MONDO:0008538 "OMIM:187360" MONDO:0008538 "MedDRA:10043207" MONDO:0008538 "DOID:13375" +MONDO:0008538 "ICD10CM:M31.6" MONDO:0008538 "Orphanet:397" -MONDO:0008538 "ICD10:M31.6" MONDO:0008538 "UMLS:C1956391" MONDO:0008538 "SCTID:400130008" MONDO:0008538 "ICD9:446.5" MONDO:0008538 "NCIT:C35065" MONDO:0008538 "EFO:1001209" -MONDO:0004604 "ICD10:C81.4" MONDO:0004604 "SCTID:118607005" MONDO:0004604 "ONCOTREE:LRCHL" MONDO:0004604 "ICDO:9651/3" @@ -41014,7 +40053,6 @@ MONDO:0004604 "Orphanet:98845" MONDO:0004604 "MedDRA:10020231" MONDO:0007864 "NCIT:C84801" MONDO:0007864 "OMIM:149000" -MONDO:0007864 "ICD10:Q87.2" MONDO:0007864 "MESH:D007715" MONDO:0007864 "OMIM:608355" MONDO:0007864 "Orphanet:2346" @@ -41025,9 +40063,9 @@ MONDO:0007864 "DOID:2926" MONDO:0007864 "SCTID:721105004" MONDO:0007864 "Orphanet:90308" MONDO:0007864 "EFO:0007334" +MONDO:0007864 "ICD10CM:Q87.2" MONDO:0007864 "GARD:0003122" MONDO:0012060 "UMLS:C1837857" -MONDO:0012060 "ICD10:H90.3" MONDO:0012060 "DOID:0110493" MONDO:0012060 "MESH:C563908" MONDO:0012060 "OMIM:608565" @@ -41040,28 +40078,28 @@ MONDO:0021804 "ICD9:502" MONDO:0021804 "MESH:D012830" MONDO:0021804 "SCTID:233763009" MONDO:0015337 "UMLS:C0010278" -MONDO:0015337 "ICD10:Q75.0" +MONDO:0015337 "ICD10CM:Q75.0" MONDO:0015337 "Orphanet:139390" MONDO:0033821 "Orphanet:519930" MONDO:0016411 "UMLS:CN201345" MONDO:0016411 "Orphanet:226307" -MONDO:0016411 "ICD10:E03.1" -MONDO:0019928 "ICD10:Q98.1" +MONDO:0016411 "ICD10CM:E03.1" MONDO:0019928 "ICD9:758.81" MONDO:0019928 "NCIT:C89799" MONDO:0019928 "UMLS:C0265498" MONDO:0019928 "GARD:0005676" +MONDO:0019928 "ICD10CM:Q98.1" MONDO:0019928 "Orphanet:96263" MONDO:0019928 "SCTID:78317008" MONDO:0019928 "MedDRA:10048228" MONDO:0010185 "Orphanet:26" MONDO:0010185 "Orphanet:622" MONDO:0010185 "Orphanet:308442" +MONDO:0010185 "ICD10CM:E72.1" MONDO:0010185 "DOID:0050716" MONDO:0010185 "GARD:0003582" MONDO:0010185 "SCTID:31220004" MONDO:0010185 "OMIM:277410" -MONDO:0010185 "ICD10:E72.1" MONDO:0010185 "UMLS:CN205879" MONDO:0010185 "Orphanet:79283" MONDO:0010185 "MESH:C564743" @@ -41069,14 +40107,14 @@ MONDO:0010185 "Orphanet:28" MONDO:0010185 "Orphanet:308380" MONDO:0020250 "MESH:D029241" MONDO:0020250 "UMLS:C0338508" -MONDO:0020250 "ICD10:H47.2" +MONDO:0020250 "ICD10CM:H47.2" MONDO:0020250 "Orphanet:98672" MONDO:0020250 "NCIT:C84577" MONDO:0020250 "GARD:0011972" MONDO:0020250 "SCTID:2065009" MONDO:0010014 "OMIM:269300" MONDO:0010014 "SCTID:278833002" -MONDO:0010014 "ICD10:Q78.8" +MONDO:0010014 "ICD10CM:Q78.8" MONDO:0010014 "Orphanet:85184" MONDO:0014795 "UMLS:C4225187" MONDO:0014795 "OMIM:616839" @@ -41089,45 +40127,45 @@ MONDO:0006462 "UMLS:C1336749" MONDO:0001491 "SCTID:409663006" MONDO:0001491 "ICD9:493.82" MONDO:0001491 "DOID:12323" -MONDO:0001491 "ICD10:J45.991" MONDO:0001491 "UMLS:C0694548" -MONDO:0018961 "ICD10:C43.5" +MONDO:0001491 "ICD10CM:J45.991" +MONDO:0018961 "ICD10CM:C43.3" MONDO:0018961 "GARD:0003460" +MONDO:0018961 "ICD10CM:C43.4" MONDO:0018961 "Orphanet:618" MONDO:0018961 "OMIM:615134" MONDO:0018961 "OMIM:613099" MONDO:0018961 "NCIT:C8498" MONDO:0018961 "DOID:6846" -MONDO:0018961 "ICD10:C43.2" +MONDO:0018961 "ICD10CM:C43.6" +MONDO:0018961 "ICD10CM:C43.8" MONDO:0018961 "UMLS:C2314896" MONDO:0018961 "OMIM:155600" -MONDO:0018961 "ICD10:C43.0" +MONDO:0018961 "ICD10CM:C43.0" MONDO:0018961 "OMIM:613972" -MONDO:0018961 "ICD10:C43.6" +MONDO:0018961 "ICD10CM:C43.5" MONDO:0018961 "OMIM:609048" MONDO:0018961 "OMIM:608035" MONDO:0018961 "OMIM:615848" -MONDO:0018961 "ICD10:C43.3" -MONDO:0018961 "ICD10:C43.4" +MONDO:0018961 "ICD10CM:C43.1" +MONDO:0018961 "ICD10CM:C43.2" +MONDO:0018961 "ICD10CM:C43.7" MONDO:0018961 "OMIM:155700" MONDO:0018961 "OMIM:155601" -MONDO:0018961 "ICD10:C43.1" -MONDO:0018961 "ICD10:C43.7" -MONDO:0018961 "ICD10:C43.8" CL:1000284 "FMA:17520" MONDO:0009979 "MESH:C564844" MONDO:0009979 "UMLS:C1867332" -MONDO:0009979 "ICD10:H35.5" MONDO:0009979 "OMIM:179840" MONDO:0009979 "OMIM:267800" +MONDO:0009979 "ICD10CM:H35.5" MONDO:0009979 "Orphanet:99002" MONDO:0009979 "OMIM:617175" MONDO:0008725 "GARD:0001465" -MONDO:0008725 "ICD10:E25.0" MONDO:0008725 "UMLS:C0342474" MONDO:0008725 "SCTID:44231009" MONDO:0008725 "OMIM:201710" MONDO:0008725 "Orphanet:90790" +MONDO:0008725 "ICD10CM:E25.0" MONDO:0008725 "Orphanet:418" MONDO:0044014 "SCTID:52772002" MONDO:0044014 "UMLS:C0271815" @@ -41143,14 +40181,15 @@ MONDO:0016739 "UMLS:CN201987" MONDO:0016739 "NCIT:C7011" MONDO:0016739 "Orphanet:252006" MONDO:0013839 "UMLS:C3539003" -MONDO:0013839 "ICD10:G60.8" MONDO:0013839 "OMIM:614653" MONDO:0013839 "DOID:0070151" MONDO:0013839 "Orphanet:314381" +MONDO:0013839 "ICD10CM:G60.8" MONDO:0018939 "SCTID:277950001" MONDO:0018939 "GARD:0000156" MONDO:0018939 "OMIM:613154" MONDO:0018939 "OMIM:613150" +MONDO:0018939 "ICD10CM:Q04.3" MONDO:0018939 "OMIM:236670" MONDO:0018939 "OMIM:615181" MONDO:0018939 "Orphanet:588" @@ -41159,11 +40198,10 @@ MONDO:0018939 "OMIM:253280" MONDO:0018939 "OMIM:253800" MONDO:0018939 "OMIM:615350" MONDO:0018939 "ICD9:742.4" -MONDO:0018939 "ICD10:Q04.3" FOODON:03420228 "http://www.langual.org/langual_thesaurus.asp?termid=C0228" -MONDO:0017852 "ICD10:G40.4" MONDO:0017852 "UMLS:CN203849" MONDO:0017852 "GARD:0003002" +MONDO:0017852 "ICD10CM:G40.4" MONDO:0017852 "Orphanet:3173" CL:1000492 "FMA:86738" MONDO:0004313 "NCIT:C6779" @@ -41173,12 +40211,12 @@ MONDO:0005191 "SCTID:443493003" MONDO:0005191 "UMLS:C0278883" MONDO:0005191 "NCIT:C8925" MONDO:0005191 "EFO:0002617" +MONDO:0012435 "ICD10CM:E71.1" MONDO:0012435 "MESH:C565706" MONDO:0012435 "UMLS:C1857776" MONDO:0012435 "GARD:0012964" MONDO:0012435 "SCTID:711412004" MONDO:0012435 "OMIM:610198" -MONDO:0012435 "ICD10:E71.1" MONDO:0012435 "GARD:0010344" MONDO:0012435 "Orphanet:66634" MONDO:0012435 "UMLS:C4039473" @@ -41193,14 +40231,13 @@ MONDO:0008391 "OMIM:180750" MONDO:0008391 "MESH:C537183" MONDO:0017382 "OMIM:119800" MONDO:0017382 "UMLS:CN203109" -MONDO:0017382 "ICD10:Q66.8" +MONDO:0017382 "ICD10CM:Q66.8" MONDO:0017382 "Orphanet:293144" MONDO:0002378 "UMLS:C0011649" MONDO:0002378 "ICDO:9084/0" MONDO:0002378 "SCTID:441459009" MONDO:0002378 "MESH:D003884" MONDO:0002378 "EFO:1000894" -MONDO:0002378 "ICD10:K09.8" MONDO:0002378 "UMLS:C2355625" MONDO:0002378 "DOID:2658" MONDO:0002378 "NCIT:C9011" @@ -41208,7 +40245,7 @@ MONDO:0002378 "UMLS:C2700593" CL:1000500 "KUPO:0001013" MONDO:0007194 "OMIM:109730" MONDO:0007194 "Orphanet:1244" -MONDO:0007194 "ICD10:Q23.1" +MONDO:0007194 "ICD10CM:Q23.1" MONDO:0007194 "Orphanet:402075" MONDO:0007194 "OMIMPS:109730" MONDO:0007194 "UMLS:C0428791" @@ -41230,13 +40267,13 @@ MONDO:0005754 "UMLS:C0014549" MONDO:0001510 "UMLS:C0155272" MONDO:0001510 "SCTID:48747004" MONDO:0001510 "ICD9:376.36" -MONDO:0001510 "ICD10:H05.21" MONDO:0001510 "DOID:12360" MONDO:0043458 "UMLS:C0034535" MONDO:0043458 "MESH:D011832" +MONDO:0043458 "ICD10CM:L55-L59" +MONDO:0043458 "ICD10CM:T66-T78" MONDO:0004691 "DOID:898" MONDO:0004691 "UMLS:C0085413" -MONDO:0004691 "ICD10:Q61.3" MONDO:0004691 "UMLS:CN119611" MONDO:0004691 "GARD:0010413" MONDO:0004691 "MESH:D016891" @@ -41256,13 +40293,13 @@ MONDO:0016027 "OMIM:121201" MONDO:0016027 "NCIT:C117307" MONDO:0016027 "UMLS:C1852581" MONDO:0016027 "SCTID:38281008" -MONDO:0016027 "ICD10:G40.3" +MONDO:0016027 "ICD10CM:G40.3" MONDO:0016027 "DOID:14264" MONDO:0012622 "OMIM:611105" MONDO:0012622 "MESH:C567009" MONDO:0012622 "GARD:0012652" -MONDO:0012622 "ICD10:E75.2" MONDO:0012622 "SCTID:703537008" +MONDO:0012622 "ICD10CM:E75.2" MONDO:0012622 "Orphanet:137898" MONDO:0018784 "GARD:0010443" MONDO:0018784 "UMLS:CN037005" @@ -41270,6 +40307,7 @@ MONDO:0018784 "Orphanet:477738" NCBITaxon:7742 "GC_ID:1" MONDO:0019403 "MESH:D000742" MONDO:0019403 "Orphanet:85" +MONDO:0019403 "ICD10CM:D64.4" MONDO:0019403 "OMIM:615631" MONDO:0019403 "UMLS:C0002876" MONDO:0019403 "ICD9:285.8" @@ -41282,12 +40320,11 @@ MONDO:0019403 "DOID:1338" MONDO:0019403 "OMIM:224100" MONDO:0019403 "OMIM:105600" MONDO:0019403 "SCTID:52951008" -MONDO:0019403 "ICD10:D64.4" MONDO:0007381 "OMIM:122400" MONDO:0007381 "DOID:0070337" +MONDO:0007381 "ICD10CM:H18.5" MONDO:0007381 "SCTID:715908008" MONDO:0007381 "Orphanet:293381" -MONDO:0007381 "ICD10:H18.5" MONDO:0007381 "MESH:C565155" MONDO:0007381 "UMLS:C1852551" MONDO:0004995 "ICD9:390-459.99" @@ -41301,55 +40338,56 @@ MONDO:0004995 "ICD9:429.89" MONDO:0004995 "ICD9:429" MONDO:0004995 "ICD9:429.2" MONDO:0004995 "SCTID:49601007" +MONDO:0004995 "ICD10CM:P19-P29" MONDO:0004995 "ICD9:429.7" MONDO:0004995 "DOID:1287" MONDO:0004995 "NCIT:C2931" MONDO:0004995 "ICD9:459.9" MONDO:0004995 "ICD9:424" MONDO:0004995 "EFO:0000319" -MONDO:0004995 "ICD10:I00.I99" MONDO:0004995 "ICD9:423" MONDO:0004995 "ICD9:429.81" +MONDO:0004995 "ICD10CM:I00-I99" MONDO:0014270 "UMLS:C3810062" -MONDO:0014270 "ICD10:E77.8" +MONDO:0014270 "ICD10CM:E77.8" MONDO:0014270 "OMIM:615596" MONDO:0014270 "SCTID:733111000" MONDO:0014270 "DOID:0080572" MONDO:0014270 "Orphanet:370921" -MONDO:0018206 "ICD10:G71.2" MONDO:0018206 "Orphanet:363677" MONDO:0018206 "OMIM:605637" +MONDO:0018206 "ICD10CM:G71.2" MONDO:0002951 "ICDO:8098/3" MONDO:0002951 "NCIT:C27535" MONDO:0002951 "SCTID:402525008" MONDO:0002951 "DOID:4294" MONDO:0015268 "MESH:D007691" +MONDO:0015268 "ICD10CM:Q61.5" MONDO:0015268 "UMLS:C0022681" MONDO:0015268 "GARD:0000232" MONDO:0015268 "NCIT:C34751" MONDO:0015268 "MedDRA:10027104" MONDO:0015268 "ICD9:753.17" -MONDO:0015268 "ICD10:Q61.5" MONDO:0015268 "Orphanet:1309" MONDO:0015268 "SCTID:236443009" MONDO:0015268 "OMIM:174000" -MONDO:0030449 "OMIM:619553" -MONDO:0016214 "UMLS:CN200975" -MONDO:0016214 "Orphanet:210136" -MONDO:0017468 "ICD10:Q68.8" MONDO:0017468 "SCTID:23876003" +MONDO:0017468 "ICD10CM:Q68.8" MONDO:0017468 "ICD9:755.59" MONDO:0017468 "Orphanet:295030" +MONDO:0016214 "UMLS:CN200975" +MONDO:0016214 "Orphanet:210136" +MONDO:0030449 "OMIM:619553" MONDO:0036781 "NCIT:C35750" MONDO:0036781 "UMLS:C0684828" +MONDO:0019371 "ICD10CM:G47.419" MONDO:0019371 "Orphanet:83465" MONDO:0019371 "ICD9:347.00" MONDO:0019371 "UMLS:C1456240" -MONDO:0019371 "ICD10:G47.419" MONDO:0019371 "EFO:0005855" MONDO:0019371 "UMLS:CN206062" +MONDO:0019371 "ICD10CM:G47.4" MONDO:0019371 "SCTID:91521000119104" -MONDO:0019371 "ICD10:G47.4" MONDO:0014902 "OMIM:617075" MONDO:0043529 "MESH:D002275" MONDO:0043529 "SCTID:36222008" @@ -41406,17 +40444,16 @@ MONDO:0019200 "OMIM:300155" MONDO:0019200 "OMIM:180105" MONDO:0019200 "UMLS:C0035334" MONDO:0019200 "OMIM:606068" +MONDO:0019200 "ICD10CM:H35.5" MONDO:0019200 "OMIM:613464" MONDO:0019200 "OMIM:613582" MONDO:0019200 "OMIM:617123" MONDO:0019200 "OMIM:611131" MONDO:0019200 "OMIM:607921" MONDO:0019200 "MedDRA:10038914" -MONDO:0019200 "ICD10:H35.52" MONDO:0019200 "OMIM:614494" MONDO:0019200 "OMIM:612165" MONDO:0019200 "OMIM:312612" -MONDO:0019200 "ICD10:H35.5" MONDO:0019200 "OMIM:616188" MONDO:0019200 "OMIM:613810" MONDO:0019200 "NCIT:C85045" @@ -41475,7 +40512,6 @@ MONDO:0007452 "OMIM:125850" MONDO:0014491 "OMIM:616098" MONDO:0014491 "UMLS:C4015195" MONDO:0014829 "DOID:0090011" -MONDO:0014829 "ICD10:D84.8" MONDO:0014829 "OMIM:616911" MONDO:0014829 "UMLS:C4310798" HP:0000202 "UMLS:C4021813" @@ -41490,19 +40526,19 @@ MONDO:0004283 "DOID:7567" MONDO:0004283 "UMLS:C1520076" MONDO:0009769 "MESH:C564935" MONDO:0009769 "SCTID:722055008" -MONDO:0009769 "ICD10:Q87.1" +MONDO:0009769 "ICD10CM:Q87.1" MONDO:0009769 "UMLS:C1850338" MONDO:0009769 "Orphanet:2714" MONDO:0009769 "OMIM:257910" -MONDO:0004112 "ICD10:N30.4" +MONDO:0004112 "ICD10CM:N30.4" MONDO:0004112 "DOID:7127" MONDO:0004112 "ICD9:595.82" MONDO:0004112 "NCIT:C123174" MONDO:0004112 "UMLS:C0156270" MONDO:0004112 "SCTID:11251000" +MONDO:0018376 "ICD10CM:M87.3" MONDO:0018376 "Orphanet:399180" -MONDO:0018376 "ICD10:M87.3" -MONDO:0018376 "ICD10:M87.1" +MONDO:0018376 "ICD10CM:M87.1" MONDO:0019707 "Orphanet:93449" MONDO:0008194 "OMIM:168200" MONDO:0008194 "SCTID:78305006" @@ -41510,28 +40546,29 @@ MONDO:0030878 "OMIM:619125" MONDO:0001094 "UMLS:C0154944" MONDO:0001094 "SCTID:66990007" MONDO:0001094 "DOID:1066" -MONDO:0001094 "ICD10:H40.15" MONDO:0001094 "ICD9:365.15" -MONDO:0020111 "ICD10:D52.8" +MONDO:0020111 "ICD10CM:D52.8" MONDO:0020111 "Orphanet:98408" MONDO:0020111 "UMLS:CN227786" NCBITaxon:186627 "GC_ID:1" +MONDO:0044795 "NCIT:C66757" +MONDO:0044795 "UMLS:C0259820" MONDO:0043237 "MESH:D005926" MONDO:0043237 "SCTID:30731004" MONDO:0043237 "GARD:0006518" -MONDO:0044795 "NCIT:C66757" -MONDO:0044795 "UMLS:C0259820" MONDO:0004808 "ICD9:610.9" MONDO:0004808 "ICD9:610.8" MONDO:0004808 "SCTID:57993004" MONDO:0004808 "DOID:9504" MONDO:0029000 "UMLS:C0302332" +MONDO:0029000 "ICD10CM:S00-T88" MONDO:0029000 "MESH:D011041" MONDO:0029000 "SCTID:75478009" +MONDO:0029000 "ICD10CM:T36-T50" MONDO:0029000 "EFO:0008546" +MONDO:0029000 "ICD10CM:T51-T65" MONDO:0004880 "DOID:9779" MONDO:0004880 "UMLS:C2004461" -MONDO:0004880 "ICD10:K59.9" MONDO:0004880 "ICD9:564.9" MONDO:0004880 "SCTID:235594008" HP:0002071 "UMLS:C0234133" @@ -41544,13 +40581,10 @@ HP:0010316 "UMLS:C0013481" HP:0010316 "ICD-10:Q22.5" HP:0010316 "SNOMEDCT_US:204357006" HP:0010316 "EPCC:06.01.34" -MONDO:0011847 "ICD10:G43.009" MONDO:0011847 "OMIM:607501" MONDO:0011847 "ICD9:346.1" MONDO:0011847 "HP:0002083" -MONDO:0011847 "ICD10:G43.0" MONDO:0000908 "UMLS:C3810138" -MONDO:0000908 "ICD10:I42.8" MONDO:0000908 "DOID:0110084" MONDO:0000908 "OMIM:615616" MONDO:0000908 "Orphanet:217656" @@ -41563,6 +40597,7 @@ MONDO:0021100 "ICD9:239.3" MONDO:0021100 "EFO:0003869" MONDO:0021100 "MESH:D001943" MONDO:0021100 "ONCOTREE:BREAST" +MONDO:0021100 "ICD10CM:C50-C50" MONDO:0021100 "NCIT:C2910" MONDO:0003945 "UMLS:C1332575" MONDO:0003945 "UMLS:C1332578" @@ -41576,20 +40611,19 @@ MONDO:0007044 "Orphanet:280651" MONDO:0007044 "OMIM:101800" NCBITaxon:6692 "GC_ID:1" MONDO:0015673 "Orphanet:168194" -MONDO:0005052 "ICD10:K58" -MONDO:0005052 "ICD10:K58.9" MONDO:0005052 "UMLS:C0022104" MONDO:0005052 "SCTID:10743008" MONDO:0005052 "EFO:0000555" MONDO:0005052 "NCIT:C82343" +MONDO:0005052 "ICD10CM:K58" MONDO:0005052 "MESH:D043183" MONDO:0005052 "ICD9:564.1" MONDO:0005052 "DOID:9778" MONDO:0009643 "Orphanet:99732" MONDO:0009643 "UMLS:C1854988" MONDO:0009643 "DOID:0111164" +MONDO:0009643 "ICD10CM:E72.1" MONDO:0009643 "Orphanet:833" -MONDO:0009643 "ICD10:E72.1" MONDO:0009643 "Orphanet:308386" MONDO:0009643 "OMIM:252150" MONDO:0009643 "MESH:C565372" @@ -41605,45 +40639,43 @@ MONDO:0002543 "NCIT:C4014" MONDO:0002543 "DOID:3186" MONDO:0002543 "MESH:D009837" MONDO:0012091 "DOID:0110491" -MONDO:0012091 "ICD10:H90.3" MONDO:0012091 "OMIM:608653" MONDO:0012091 "DOID:0110466" MONDO:0012091 "UMLS:C4310777" MONDO:0012091 "MESH:C563884" MONDO:0012091 "UMLS:C1837608" MONDO:0007231 "Orphanet:1295" -MONDO:0007231 "ICD10:Q87.0" MONDO:0007231 "OMIM:113480" MONDO:0007231 "UMLS:C2931421" MONDO:0007231 "MESH:C537101" -MONDO:0100120 "https://orcid.org/0000-0002-2825-0621" +MONDO:0007231 "ICD10CM:Q87.0" MONDO:0020638 "ICDO:8743/3" MONDO:0020638 "NCIT:C9152" MONDO:0020638 "SCTID:254730000" MONDO:0032699 "DOID:0111316" MONDO:0032699 "OMIM:618357" -MONDO:0019794 "ICD10:G11.8" +MONDO:0019794 "ICD10CM:G11.8" MONDO:0019794 "UMLS:CN229225" MONDO:0019794 "Orphanet:94149" MONDO:0014608 "DOID:0060365" MONDO:0014608 "OMIM:616367" MONDO:0014608 "Orphanet:443995" MONDO:0014608 "UMLS:C4225349" -MONDO:0014608 "ICD10:Q75.4" +MONDO:0014608 "ICD10CM:Q75.4" MONDO:0008884 "SCTID:722061006" -MONDO:0008884 "ICD10:Q87.5" MONDO:0008884 "GARD:0000992" MONDO:0008884 "OMIM:211370" +MONDO:0008884 "ICD10CM:Q87.5" MONDO:0008884 "UMLS:C1859385" MONDO:0008884 "Orphanet:2713" MONDO:0008884 "MESH:C565893" MONDO:0014209 "OMIM:615491" -MONDO:0014209 "ICD10:G31.8" MONDO:0014209 "UMLS:C3809665" MONDO:0014209 "Orphanet:352654" +MONDO:0014209 "ICD10CM:G31.8" +MONDO:0009830 "ICD10CM:G20" MONDO:0009830 "MESH:C538104" MONDO:0009830 "OMIM:168601" -MONDO:0009830 "ICD10:G20" MONDO:0009830 "Orphanet:171695" MONDO:0009830 "DOID:0060372" MONDO:0009830 "GARD:0009175" @@ -41656,16 +40688,16 @@ MONDO:0010079 "DOID:3613" MONDO:0010079 "GARD:0005984" MONDO:0010079 "Orphanet:141" MONDO:0010079 "SCTID:80544005" +MONDO:0010079 "ICD10CM:E75.2" MONDO:0010079 "UMLS:C0206307" MONDO:0010079 "NCIT:C84611" -MONDO:0010079 "ICD10:E75.2" MONDO:0010079 "MESH:D017825" MONDO:0011025 "SCTID:717332007" +MONDO:0011025 "ICD10CM:G11.0" MONDO:0011025 "OMIM:601238" MONDO:0011025 "Orphanet:94122" MONDO:0011025 "DOID:0060694" MONDO:0011025 "UMLS:C1832585" -MONDO:0011025 "ICD10:G11.0" MONDO:0011025 "MESH:C563363" MONDO:0002730 "UMLS:C1333003" MONDO:0002730 "DOID:3675" @@ -41676,11 +40708,11 @@ MONDO:0014904 "OMIM:617082" MONDO:0054733 "OMIM:618091" CL:0002086 "FMA:67968" MONDO:0032886 "OMIM:618729" -MONDO:0015476 "ICD10:Q18.0" +MONDO:0015476 "ICD10CM:Q18.0" MONDO:0015476 "Orphanet:155835" MONDO:0019981 "Orphanet:97363" -MONDO:0019981 "ICD10:Q61.4" MONDO:0019981 "MESH:D021782" +MONDO:0019981 "ICD10CM:Q61.4" MONDO:0012427 "GARD:0010586" MONDO:0012427 "NCIT:C114768" MONDO:0012427 "MESH:C537783" @@ -41694,18 +40726,17 @@ MONDO:0007738 "SCTID:702400006" MONDO:0007738 "GARD:0002533" MONDO:0007738 "MESH:C537283" MONDO:0007738 "DOID:0050813" -MONDO:0007738 "ICD10:Q74.8" +MONDO:0007738 "ICD10CM:Q74.8" MONDO:0007738 "ICD9:756.9" MONDO:0007738 "Orphanet:263463" MONDO:0000772 "DOID:0060497" MONDO:0011340 "MESH:C566362" MONDO:0011340 "ICD9:748.3" -MONDO:0011340 "ICD10:Q32.1" MONDO:0011340 "OMIM:603569" MONDO:0011340 "GARD:0012008" +MONDO:0011340 "ICD10CM:Q32.1" MONDO:0011340 "Orphanet:141127" MONDO:0011340 "SCTID:9660004" -MONDO:0013540 "ICD10:D46.7" MONDO:0013540 "Orphanet:3226" MONDO:0013540 "GARD:0013030" MONDO:0013540 "UMLS:C3279664" @@ -41755,9 +40786,9 @@ HP:0006483 "SNOMEDCT_US:335443002" MONDO:0016197 "Orphanet:209193" NCBITaxon:1648037 "GC_ID:1" MONDO:0016854 "Orphanet:261534" -MONDO:0016854 "ICD10:Q98.8" MONDO:0016854 "UMLS:CN202197" MONDO:0016854 "GARD:0010922" +MONDO:0016854 "ICD10CM:Q98.8" HP:0011015 "UMLS:C4023597" MONDO:0003947 "OMIMPS:308230" MONDO:0003947 "SCTID:82286005" @@ -41767,9 +40798,9 @@ MONDO:0003947 "NCIT:C3990" MONDO:0003947 "UMLS:C0272236" MONDO:0003947 "DOID:0080544" MONDO:0003947 "Wikidata:Q1617658" +MONDO:0019573 "ICD10CM:Q82.8" MONDO:0019573 "Orphanet:90350" -MONDO:0019573 "ICD10:Q82.8" -MONDO:0019226 "ICD10:E74.8" +MONDO:0019226 "ICD10CM:E74.8" MONDO:0019226 "UMLS:CN227593" MONDO:0019226 "Orphanet:79178" HP:0000365 "UMLS:C0018772" @@ -41794,14 +40825,13 @@ MONDO:0004275 "UMLS:C1335148" MONDO:0003078 "DOID:4656" MONDO:0003078 "NCIT:C7848" MONDO:0003078 "UMLS:C0278719" +MONDO:0016770 "ICD10CM:L43.8" MONDO:0016770 "SCTID:200999007" -MONDO:0016770 "ICD10:L43.8" MONDO:0016770 "GARD:0012673" MONDO:0016770 "Orphanet:254395" MONDO:0016770 "UMLS:C0406365" MONDO:0001766 "UMLS:C0155243" MONDO:0001766 "DOID:13651" -MONDO:0001766 "ICD10:H04.52" MONDO:0001766 "SCTID:28244003" MONDO:0001766 "ICD9:375.51" MONDO:0008734 "Orphanet:1501" @@ -41813,7 +40843,7 @@ MONDO:0042499 "GARD:0000856" MONDO:0042499 "Orphanet:306" MONDO:0007537 "DOID:0111343" MONDO:0007537 "Orphanet:2789" -MONDO:0007537 "ICD10:Q87.5" +MONDO:0007537 "ICD10CM:Q87.5" MONDO:0007537 "UMLS:C1851710" MONDO:0007537 "MESH:C537878" MONDO:0007537 "OMIM:130720" @@ -41821,9 +40851,9 @@ MONDO:0007537 "GARD:0009873" MONDO:0010738 "UMLS:C0796172" MONDO:0010738 "MESH:C563124" MONDO:0010738 "GARD:0008343" -MONDO:0010738 "ICD10:Q77.8" MONDO:0010738 "OMIM:313420" MONDO:0010738 "Orphanet:168544" +MONDO:0010738 "ICD10CM:Q77.8" HP:0001669 "SNOMEDCT_US:204296002" HP:0001669 "SNOMEDCT_US:26146002" HP:0001669 "UMLS:C3536741" @@ -41844,10 +40874,10 @@ MONDO:0010248 "Orphanet:93349" MONDO:0010248 "GARD:0004979" MONDO:0010248 "OMIM:300106" MONDO:0010248 "UMLS:C1848097" -MONDO:0010248 "ICD10:Q77.7" +MONDO:0010248 "ICD10CM:Q77.7" MONDO:0010248 "MESH:C564714" +MONDO:0003125 "ICD10CM:C62.1" MONDO:0003125 "DOID:4757" -MONDO:0003125 "ICD10:C62.1" MONDO:0003125 "UMLS:C3840076" MONDO:0003125 "SCTID:702406000" MONDO:0003125 "Orphanet:363489" @@ -41855,10 +40885,9 @@ MONDO:0003125 "UMLS:CN204701" MONDO:0003125 "NCIT:C6358" MONDO:0020313 "Orphanet:98825" MONDO:0020313 "UMLS:CN207134" -MONDO:0004496 "ICD10:I40" MONDO:0004496 "MESH:D009205" MONDO:0004496 "SCTID:50920009" -MONDO:0004496 "ICD10:I51.4" +MONDO:0004496 "ICD10CM:I40" MONDO:0004496 "UMLS:C0027059" MONDO:0004496 "GARD:0007137" MONDO:0004496 "KEGG:05416" @@ -41872,7 +40901,7 @@ MONDO:0007895 "DOID:0111508" MONDO:0007895 "GARD:0004382" MONDO:0007895 "OMIM:151210" MONDO:0007895 "Orphanet:85166" -MONDO:0007895 "ICD10:Q77.8" +MONDO:0007895 "ICD10CM:Q77.8" MONDO:0007895 "UMLS:C1835437" MONDO:0007895 "MESH:C563627" NCBITaxon:43075 "GC_ID:1" @@ -41896,26 +40925,26 @@ MONDO:0007036 "OMIM:100700" MONDO:0007036 "NCIT:C35809" MONDO:0021131 "UMLS:C4330009" MONDO:0021131 "NCIT:C131573" -MONDO:0005724 "ICD10:B45.1" -MONDO:0005724 "ICD10:B45" +MONDO:0005724 "ICD10CM:B45.7" MONDO:0005724 "Orphanet:1546" MONDO:0005724 "MedDRA:10011490" MONDO:0005724 "MESH:D003453" -MONDO:0005724 "ICD10:B45.7" -MONDO:0005724 "ICD10:B45.0" +MONDO:0005724 "ICD10CM:B45.2" MONDO:0005724 "NCIT:C2967" +MONDO:0005724 "ICD10CM:B45.1" +MONDO:0005724 "ICD10CM:B45.0" MONDO:0005724 "ICD9:117.5" MONDO:0005724 "DOID:12053" MONDO:0005724 "EFO:0007229" -MONDO:0005724 "ICD10:B45.2" +MONDO:0005724 "ICD10CM:B45.3" +MONDO:0005724 "ICD10CM:B45.8" MONDO:0005724 "SCTID:42386007" -MONDO:0005724 "ICD10:B45.3" -MONDO:0005724 "ICD10:B45.8" +MONDO:0005724 "ICD10CM:B45.9" MONDO:0005724 "UMLS:C0010414" -MONDO:0005724 "ICD10:B45.9" +MONDO:0005724 "ICD10CM:B45" MONDO:0005724 "GARD:0006218" MONDO:0019959 "SCTID:16424000" -MONDO:0019959 "ICD10:E16.8" +MONDO:0019959 "ICD10CM:E16.8" MONDO:0019959 "GARD:0002496" MONDO:0019959 "EFO:1000441" MONDO:0019959 "Orphanet:97280" @@ -41925,7 +40954,6 @@ MONDO:0019959 "MESH:D005935" MONDO:0019959 "MedDRA:10018404" MONDO:0044229 "OMIM:131450" MONDO:0014075 "UMLS:C3808800" -MONDO:0014075 "ICD10:Q12.0" MONDO:0014075 "DOID:0110236" MONDO:0014075 "Orphanet:98995" MONDO:0014075 "Orphanet:98994" @@ -41945,8 +40973,8 @@ MONDO:0007903 "OMIM:609266" MONDO:0007903 "MESH:C563754" MONDO:0007903 "Orphanet:524" MONDO:0007903 "UMLS:C1835398" +MONDO:0017187 "ICD10CM:E16.1" MONDO:0017187 "Orphanet:276598" -MONDO:0017187 "ICD10:E16.1" MONDO:0017187 "OMIM:256450" MONDO:0015875 "Orphanet:180303" MONDO:0015875 "UMLS:CN200481" @@ -41958,13 +40986,12 @@ MONDO:0017844 "ICD9:202.2" MONDO:0017844 "NCIT:C3366" MONDO:0017844 "Orphanet:3162" MONDO:0017844 "DOID:8541" -MONDO:0017844 "ICD10:C84.1" MONDO:0017844 "SCTID:118611004" MONDO:0017844 "EFO:1000785" MONDO:0017844 "MESH:D012751" MONDO:0017844 "ICDO:9701/3" -MONDO:0017844 "ICD10:C84.10" MONDO:0017844 "MedDRA:10040500" +MONDO:0017844 "ICD10CM:C84.1" MONDO:0004965 "ICDO:8550/3" MONDO:0004965 "UMLS:C0206685" MONDO:0004965 "MESH:D018267" @@ -41978,8 +41005,8 @@ MONDO:0019005 "OMIM:602088" MONDO:0019005 "GARD:0000206" MONDO:0019005 "OMIM:613159" MONDO:0019005 "DOID:12712" +MONDO:0019005 "ICD10CM:Q61.5" MONDO:0019005 "OMIM:256100" -MONDO:0019005 "ICD10:Q61.5" MONDO:0019005 "OMIM:604387" MONDO:0019005 "UMLS:C0687120" MONDO:0019005 "HP:0000090" @@ -42006,15 +41033,13 @@ MONDO:0007390 "UMLS:CN078029" MONDO:0007390 "OMIM:122700" MONDO:0007390 "UMLS:C0750384" MONDO:0007390 "GARD:0012639" -MONDO:0009010 "ICD10:Q25.4" MONDO:0009010 "Orphanet:2299" MONDO:0009010 "MedDRA:10022599" MONDO:0009010 "GARD:0000740" -MONDO:0009010 "ICD10:Q20.1" +MONDO:0009010 "ICD10CM:Q25.21" MONDO:0009010 "ICD9:745.11" -MONDO:0009010 "ICD10:Q25.21" +MONDO:0009010 "ICD10CM:Q25.4" MONDO:0012293 "MESH:C563705" -MONDO:0012293 "ICD10:H90.3" MONDO:0012293 "DOID:0110481" MONDO:0012293 "OMIM:609533" MONDO:0012293 "UMLS:C1836027" @@ -42025,16 +41050,16 @@ MONDO:0012950 "MESH:C567237" MONDO:0016927 "Orphanet:262628" MONDO:0016927 "SCTID:726345000" MONDO:0008337 "MESH:C566740" +MONDO:0008337 "ICD10CM:H11.0" MONDO:0008337 "UMLS:C1867441" MONDO:0008337 "GARD:0004569" MONDO:0008337 "OMIM:178000" MONDO:0008337 "Orphanet:2989" -MONDO:0008337 "ICD10:H11.0" MONDO:0002756 "NCIT:C6711" MONDO:0002756 "DOID:3723" MONDO:0002756 "UMLS:C1332936" MONDO:0018402 "Orphanet:399877" -MONDO:0018402 "ICD10:N97.0" +MONDO:0018402 "ICD10CM:N97.0" MONDO:0000859 "ICD9:756.17" MONDO:0000859 "NCIT:C101044" MONDO:0000859 "SCTID:76916001" @@ -42044,7 +41069,6 @@ MONDO:0000859 "DOID:0080073" MONDO:0016058 "SCTID:230310003" MONDO:0016058 "ICD9:333.99" MONDO:0016058 "Orphanet:200037" -MONDO:0019434 "ICD10:M08.2" MONDO:0019434 "SCTID:201796004" MONDO:0019434 "NCIT:C119031" MONDO:0019434 "GARD:0010966" @@ -42056,7 +41080,7 @@ MONDO:0014765 "OMIM:616760" MONDO:0014765 "UMLS:C4225214" MONDO:0014765 "DOID:0111574" MONDO:0005358 "SCTID:20927009" -MONDO:0005358 "ICD10:A91" +MONDO:0005358 "ICD10CM:A91" MONDO:0005358 "NCIT:C34683" MONDO:0005358 "DOID:12206" MONDO:0005358 "EFO:0004227" @@ -42074,7 +41098,6 @@ HP:0010442 "UMLS:C0152427" HP:0010442 "MSH:D017689" MONDO:0015299 "MedDRA:10022821" MONDO:0015299 "SCTID:48236007" -MONDO:0015299 "ICD10:N85.6" MONDO:0015299 "MedDRA:10053868" MONDO:0015299 "UMLS:C0156372" MONDO:0015299 "Orphanet:137686" @@ -42093,10 +41116,12 @@ MONDO:0004440 "NCIT:C6756" MONDO:0004440 "DOID:8031" MONDO:0004440 "UMLS:C1335418" NCBITaxon:2509494 "GC_ID:1" +MONDO:0013363 "Orphanet:294026" MONDO:0013363 "Orphanet:1836" MONDO:0013363 "DOID:0060458" MONDO:0013363 "UMLS:C3150940" MONDO:0013363 "OMIM:613681" +MONDO:0013363 "UMLS:CN203162" MONDO:0024304 "UMLS:C0079584" MONDO:0024304 "NCIT:C84778" MONDO:0024304 "GARD:0006752" @@ -42104,16 +41129,15 @@ MONDO:0003243 "UMLS:C1333067" MONDO:0003243 "NCIT:C5754" MONDO:0003243 "ICDO:8174/3" MONDO:0003243 "DOID:5016" -MONDO:0019903 "ICD10:Q93.2" MONDO:0019903 "Orphanet:96171" +MONDO:0019903 "ICD10CM:Q93.2" MONDO:0019903 "SCTID:765485000" MONDO:0019903 "GARD:0010837" MONDO:0019903 "NCIT:C121981" MONDO:0019903 "UMLS:C4707448" MONDO:0020315 "UMLS:CN207136" -MONDO:0020315 "ICD10:D46.7" MONDO:0020315 "Orphanet:98827" -MONDO:0015307 "ICD10:G12.2" +MONDO:0015307 "ICD10CM:G12.2" MONDO:0015307 "Orphanet:137867" MONDO:0015307 "GARD:0010742" MONDO:0015307 "UMLS:C0393551" @@ -42122,18 +41146,15 @@ MONDO:0005881 "MESH:D016104" MONDO:0005881 "NCIT:C92839" MONDO:0005881 "DOID:12215" MONDO:0005881 "HP:0001562" -MONDO:0005881 "ICD10:O41.00" MONDO:0005881 "EFO:0007401" MONDO:0005881 "SCTID:59566000" MONDO:0005881 "ICD9:658.00" MONDO:0005881 "ICD9:658.0" -MONDO:0005881 "ICD10:O41.0" MONDO:0010413 "MESH:C567470" MONDO:0010413 "OMIM:300716" MONDO:0010413 "Orphanet:777" MONDO:0010413 "UMLS:C2678034" MONDO:0019257 "UMLS:CN205842" -MONDO:0019257 "ICD10:E83.1" MONDO:0019257 "Orphanet:79230" MONDO:0019257 "OMIM:613313" MONDO:0019257 "MESH:C537247" @@ -42141,11 +41162,13 @@ MONDO:0019257 "DOID:0111034" MONDO:0019257 "OMIM:602390" MONDO:0019257 "SCTID:50855007" MONDO:0019257 "GARD:0010092" -MONDO:0017917 "ICD10:G11.4" +MONDO:0019257 "ICD10CM:E83.1" MONDO:0017917 "Orphanet:320360" +MONDO:0017917 "ICD10CM:G11.4" MONDO:0004098 "NCIT:C6630" MONDO:0004098 "UMLS:C1334600" MONDO:0004098 "DOID:7077" +MONDO:0015665 "ICD10CM:L98.5" MONDO:0015665 "SCTID:402468007" MONDO:0015665 "MedDRA:10055046" MONDO:0015665 "NCIT:C85061" @@ -42153,37 +41176,34 @@ MONDO:0015665 "GARD:0007615" MONDO:0015665 "UMLS:CN200092" MONDO:0015665 "ICD9:701.8" MONDO:0015665 "UMLS:C0263390" -MONDO:0015665 "ICD10:L98.5" MONDO:0015665 "Orphanet:167635" MONDO:0015665 "MESH:D053718" MONDO:0006298 "UMLS:C1334597" MONDO:0006298 "SCTID:713293002" MONDO:0006298 "EFO:1000366" MONDO:0006298 "NCIT:C6446" +MONDO:0016748 "ICD10CM:D33.7" MONDO:0016748 "DOID:5241" -MONDO:0016748 "ICD10:D33.4" MONDO:0016748 "NCIT:C3801" MONDO:0016748 "MESH:D018325" MONDO:0016748 "Orphanet:252054" MONDO:0016748 "MedDRA:10018813" -MONDO:0016748 "ICD10:D33.7" MONDO:0016748 "GARD:0008232" MONDO:0016748 "ONCOTREE:HMBL" MONDO:0016748 "ICDO:9161/1" MONDO:0016748 "UMLS:C0206734" +MONDO:0016748 "ICD10CM:D33.4" MONDO:0007201 "GARD:0000023" MONDO:0007201 "DOID:14778" MONDO:0007201 "SCTID:715391004" MONDO:0007201 "OMIM:110100" MONDO:0007201 "MESH:C562419" MONDO:0007201 "UMLS:C0220663" -MONDO:0007201 "ICD10:Q10.3" +MONDO:0007201 "ICD10CM:Q10.3" MONDO:0007201 "Orphanet:126" MONDO:0001589 "DOID:1283" MONDO:0001589 "ICD9:618.6" MONDO:0001589 "SCTID:398061002" -MONDO:0001589 "ICD10:K46" -MONDO:0001589 "ICD10:N81.5" MONDO:0004815 "SCTID:425657001" MONDO:0004815 "NCIT:C7765" MONDO:0004815 "DOID:9541" @@ -42207,10 +41227,10 @@ MONDO:0020608 "OMIM:110350" MONDO:0021510 "UMLS:C0154009" MONDO:0021510 "SCTID:92308005" MONDO:0021510 "NCIT:C3613" -MONDO:0021510 "ICD10:D29.1" MONDO:0021510 "ICD9:222.2" +MONDO:0021510 "ICD10CM:D29.1" MONDO:0013166 "GARD:0000194" -MONDO:0013166 "ICD10:E72.8" +MONDO:0013166 "ICD10CM:E72.8" MONDO:0013166 "MESH:C535407" MONDO:0013166 "DOID:0060174" MONDO:0013166 "UMLS:C0342708" @@ -42241,7 +41261,7 @@ MONDO:0001797 "DOID:13778" MONDO:0001797 "UMLS:C0007947" MONDO:0001797 "SCTID:266143009" MONDO:0001797 "MESH:D002602" -MONDO:0001797 "ICD10:A57" +MONDO:0001797 "ICD10CM:A57" MONDO:0001797 "GARD:0009522" MONDO:0001797 "ICD9:099.0" MONDO:0008233 "Orphanet:29072" @@ -42251,9 +41271,8 @@ MONDO:0008233 "OMIM:171300" MONDO:0017352 "SCTID:190724004" MONDO:0017352 "Orphanet:289841" MONDO:0017352 "UMLS:C0342669" +MONDO:0017352 "ICD10CM:E72.8" MONDO:0017352 "ICD9:270.7" -MONDO:0017352 "ICD10:E72.8" -MONDO:0004169 "ICD10:N94.3" MONDO:0004169 "MESH:D011293" MONDO:0004169 "UMLS:C0376356" MONDO:0004169 "ICD9:625.4" @@ -42275,19 +41294,18 @@ MONDO:0043771 "MESH:D011855" MONDO:0043771 "EFO:1001840" MONDO:0003117 "SCTID:397923000" MONDO:0003117 "ICD9:300.8" -MONDO:0003117 "ICD10:F45.9" +MONDO:0003117 "ICD10CM:F40-F48" MONDO:0003117 "ICD9:306.8" MONDO:0003117 "NCIT:C34956" MONDO:0003117 "ICD9:300.81" +MONDO:0003117 "ICD10CM:F45.0" MONDO:0003117 "DOID:4737" -MONDO:0003117 "ICD10:F45" -MONDO:0003117 "ICD10:F45.0" MONDO:0003117 "SCTID:31297008" MONDO:0003117 "MESH:D013001" MONDO:0019990 "UMLS:C4273674" MONDO:0019990 "Orphanet:97566" -MONDO:0019990 "ICD10:N03.6" MONDO:0019990 "GARD:0012740" +MONDO:0019990 "ICD10CM:N03.6" MONDO:0019990 "SCTID:718192000" MONDO:0007747 "OMIM:143860" MONDO:0007747 "ICD9:276.9" @@ -42300,8 +41318,8 @@ MONDO:0008116 "MESH:D039141" MONDO:0008116 "DOID:11719" MONDO:0008116 "GARD:0007245" MONDO:0008116 "OMIM:164300" +MONDO:0008116 "ICD10CM:G71.0" MONDO:0008116 "NCIT:C84942" -MONDO:0008116 "ICD10:G71.0" MONDO:0008116 "UMLS:C0270952" MONDO:0008116 "Orphanet:270" MONDO:0018793 "Orphanet:477781" @@ -42311,10 +41329,10 @@ MONDO:0009674 "MESH:C565361" MONDO:0005430 "EFO:0004772" MONDO:0007630 "GARD:0009179" MONDO:0007630 "SCTID:312925009" -MONDO:0007630 "ICD10:H35.5" MONDO:0007630 "MESH:C537835" MONDO:0007630 "Orphanet:75327" MONDO:0007630 "UMLS:C0730294" +MONDO:0007630 "ICD10CM:H35.5" MONDO:0007630 "OMIM:136550" NCBITaxon:2499399 "GC_ID:1" NCBITaxon:6250 "GC_ID:1" @@ -42343,10 +41361,10 @@ MONDO:0016223 "Orphanet:210589" MONDO:0007934 "OMIM:153870" MONDO:0007934 "Orphanet:251287" MONDO:0007934 "MESH:C537833" -MONDO:0007934 "ICD10:H35.5" MONDO:0007934 "SCTID:719520001" MONDO:0007934 "UMLS:C4304667" MONDO:0007934 "GARD:0009887" +MONDO:0007934 "ICD10CM:H35.5" MONDO:0032927 "OMIM:618805" MONDO:0011184 "OMIM:602081" MONDO:0011184 "SCTID:229703009" @@ -42359,19 +41377,17 @@ MONDO:0006871 "UMLS:C1135873" MONDO:0006871 "MESH:D031954" MONDO:0001064 "UMLS:C0155429" MONDO:0001064 "ICD9:381.51" -MONDO:0001064 "ICD10:H68.019" MONDO:0001064 "DOID:10550" MONDO:0001064 "SCTID:194268005" -MONDO:0001064 "ICD10:H68.01" MONDO:0012130 "DOID:0080093" MONDO:0012130 "OMIM:608810" +MONDO:0012130 "ICD10CM:G71.0" MONDO:0012130 "UMLS:C1837317" MONDO:0012130 "Orphanet:98910" MONDO:0012130 "MESH:C563848" -MONDO:0012130 "ICD10:G71.0" MONDO:0012130 "Orphanet:399058" -MONDO:0018292 "ICD10:E77.8" MONDO:0018292 "Orphanet:371195" +MONDO:0018292 "ICD10CM:E77.8" MONDO:0016980 "UMLS:CN202282" MONDO:0016980 "Orphanet:263355" MONDO:0000813 "EFO:1001442" @@ -42389,35 +41405,35 @@ MONDO:0003850 "NCIT:C5426" MONDO:0016527 "MESH:C580233" MONDO:0016527 "OMIM:614128" MONDO:0016527 "Orphanet:2364" -MONDO:0016527 "ICD10:E74.4" +MONDO:0016527 "ICD10CM:E74.4" MONDO:0016527 "OMIM:612933" MONDO:0016527 "GARD:0003159" MONDO:0007592 "Orphanet:2809" -MONDO:0007592 "ICD10:G51.0" +MONDO:0007592 "ICD10CM:G51.0" MONDO:0007592 "UMLS:C1851399" MONDO:0007592 "MESH:C565028" MONDO:0007592 "OMIM:134200" MONDO:0004418 "NCIT:C39820" MONDO:0004418 "DOID:7971" MONDO:0004418 "UMLS:C1512740" +MONDO:0008923 "ICD10CM:Q82.8" MONDO:0008923 "UMLS:C1859316" +MONDO:0008923 "ICD10CM:Q84.0" MONDO:0008923 "OMIM:212360" MONDO:0008923 "MESH:C535336" MONDO:0008923 "Orphanet:1366" MONDO:0008923 "GARD:0001139" -MONDO:0008923 "ICD10:Q84.0" -MONDO:0008923 "ICD10:Q82.8" MONDO:0008923 "DOID:0111245" HP:0011844 "UMLS:C4023163" MONDO:0016919 "Orphanet:262173" -MONDO:0016919 "ICD10:Q93.5" +MONDO:0016919 "ICD10CM:Q93.5" MONDO:0012586 "OMIM:610947" MONDO:0012586 "MESH:C567045" MONDO:0012586 "UMLS:C1970440" MONDO:0016410 "NCIT:C113144" MONDO:0016410 "GARD:0012280" MONDO:0016410 "Orphanet:226298" -MONDO:0016410 "ICD10:E03.1" +MONDO:0016410 "ICD10CM:E03.1" MONDO:0013532 "UMLS:C3151465" MONDO:0013532 "OMIM:614024" MONDO:0011371 "GARD:0010079" @@ -42428,43 +41444,42 @@ MONDO:0018175 "OMIM:613625" MONDO:0018175 "OMIM:227300" MONDO:0018175 "UMLS:C1856883" MONDO:0018175 "Orphanet:35909" +MONDO:0018175 "ICD10CM:D68.8" MONDO:0018175 "SCTID:715559004" -MONDO:0018175 "ICD10:D68.8" MONDO:0018175 "OMIM:227310" MONDO:0000429 "UMLS:C0265384" MONDO:0000429 "DOID:0050739" MONDO:0000429 "SCTID:1899006" MONDO:0000429 "ICD9:758.5" -MONDO:0012844 "ICD10:Q34.8" MONDO:0012844 "Orphanet:244" MONDO:0012844 "DOID:0110616" MONDO:0012844 "UMLS:C2677085" MONDO:0012844 "MESH:C567373" MONDO:0012844 "OMIM:612274" -MONDO:0100082 "OMIM:151100" -MONDO:0100082 "DOID:0080548" MONDO:0024265 "GARD:0010763" MONDO:0024265 "UMLS:C0013261" MONDO:0024265 "SCTID:128082002" MONDO:0024265 "OMIM:126800" MONDO:0024265 "Orphanet:233" +MONDO:0100082 "OMIM:151100" +MONDO:0100082 "DOID:0080548" MONDO:0010415 "MESH:C567468" MONDO:0010415 "UMLS:C2678015" MONDO:0010415 "OMIM:300718" MONDO:0010415 "Orphanet:97239" MONDO:0017131 "Orphanet:271853" MONDO:0015515 "OMIM:608836" -MONDO:0015515 "Orphanet:157" -MONDO:0015515 "OMIM:255110" -MONDO:0015515 "OMIM:600649" -MONDO:0015515 "MESH:C535589" -MONDO:0015515 "SCTID:238002005" +MONDO:0015515 "NCIT:C114766" +MONDO:0015515 "ICD10CM:E71.3" MONDO:0015515 "ICD9:277.85" MONDO:0015515 "GARD:0001121" -MONDO:0015515 "NCIT:C114766" -MONDO:0015515 "HGNC:2330" +MONDO:0015515 "OMIM:600649" +MONDO:0015515 "Orphanet:157" +MONDO:0015515 "SCTID:238002005" MONDO:0015515 "UMLS:C0342790" -MONDO:0015515 "ICD10:E71.3" +MONDO:0015515 "MESH:C535589" +MONDO:0015515 "HGNC:2330" +MONDO:0015515 "OMIM:255110" MONDO:0015515 "DOID:0060235" MONDO:0004605 "SCTID:19429009" MONDO:0004605 "EFO:0007066" @@ -42472,14 +41487,13 @@ MONDO:0004605 "ICD9:707.9" MONDO:0004605 "ICD9:707" MONDO:0004605 "DOID:8549" MONDO:0004605 "UMLS:C0157738" -MONDO:0004605 "ICD10:L98.4" MONDO:0004605 "ICD9:707.8" MONDO:0012773 "UMLS:C2677745" MONDO:0012773 "MESH:C567445" MONDO:0012773 "OMIM:611962" -MONDO:0016393 "ICD10:Q87.8" MONDO:0016393 "UMLS:CN201299" MONDO:0016393 "Orphanet:2250" +MONDO:0016393 "ICD10CM:Q87.8" MONDO:0016393 "OMIM:603457" MONDO:0004817 "UMLS:C0456845" MONDO:0004817 "DOID:9547" @@ -42488,15 +41502,15 @@ MONDO:0004817 "SCTID:277580004" MONDO:0004817 "UMLS:C3898125" MONDO:0019593 "Orphanet:90776" MONDO:0019593 "UMLS:CN227655" -MONDO:0019593 "ICD10:E25.0" +MONDO:0019593 "ICD10CM:E25.0" MONDO:0054695 "UMLS:C4540345" MONDO:0054695 "OMIM:617760" MONDO:0054695 "DOID:0111221" MONDO:0003087 "DOID:4679" MONDO:0003087 "NCIT:C5166" MONDO:0003087 "UMLS:C1334813" +MONDO:0015173 "ICD10CM:K52.8" MONDO:0015173 "Orphanet:103916" -MONDO:0015173 "ICD10:K52.8" MONDO:0015173 "UMLS:CN226616" MONDO:0000521 "NCIT:C9272" MONDO:0000521 "DOID:0050904" @@ -42507,16 +41521,16 @@ MONDO:0018396 "UMLS:CN227342" MONDO:0030376 "OMIM:619420" MONDO:0011856 "MESH:C535791" MONDO:0011856 "OMIM:607543" +MONDO:0011856 "ICD10CM:Q77.8" MONDO:0011856 "UMLS:C1843706" MONDO:0011856 "Orphanet:168552" -MONDO:0011856 "ICD10:Q77.8" MONDO:0011856 "GARD:0008719" MONDO:0009106 "UMLS:C0011999" +MONDO:0009106 "ICD10CM:Q06.2" MONDO:0009106 "GARD:0001851" MONDO:0009106 "Orphanet:1671" MONDO:0009106 "SCTID:49351009" MONDO:0009106 "NCIT:C98913" -MONDO:0009106 "ICD10:Q06.2" MONDO:0009106 "OMIM:222500" MONDO:0009106 "ICD9:742.51" MONDO:0009106 "MedDRA:10012750" @@ -42527,7 +41541,7 @@ MONDO:0006463 "NCIT:C38762" NCBITaxon:6933 "GC_ID:1" MONDO:0008390 "GARD:0004738" MONDO:0008390 "UMLS:C1867147" -MONDO:0008390 "ICD10:L98.8" +MONDO:0008390 "ICD10CM:L98.8" MONDO:0008390 "MESH:C535870" MONDO:0008390 "Orphanet:3110" MONDO:0008390 "OMIM:180730" @@ -42551,37 +41565,37 @@ MONDO:0001962 "UMLS:C0154191" MONDO:0001962 "SCTID:11178005" MONDO:0015360 "UMLS:CN228927" MONDO:0015360 "Orphanet:140456" -MONDO:0015360 "ICD10:G60.0" +MONDO:0015360 "ICD10CM:G60.0" MONDO:0007865 "OMIM:149100" -MONDO:0007865 "ICD10:M72.1" +MONDO:0007865 "ICD10CM:M72.1" MONDO:0007865 "ICD9:728.79" MONDO:0007865 "UMLS:C0264000" MONDO:0007865 "SCTID:16687001" -MONDO:0016002 "ICD10:Q79.6" MONDO:0016002 "GARD:0002083" MONDO:0016002 "NCIT:C125700" MONDO:0016002 "UMLS:CN202461" MONDO:0016002 "MESH:C536198" MONDO:0016002 "UMLS:C0268342" MONDO:0016002 "Orphanet:1900" +MONDO:0016002 "ICD10CM:Q79.6" MONDO:0016002 "OMIM:225400" MONDO:0016002 "SCTID:718211004" -MONDO:0017560 "ICD10:Q68.2" MONDO:0017560 "Orphanet:295229" MONDO:0017560 "ICD9:754.40" MONDO:0017560 "NCIT:C103184" MONDO:0017560 "SCTID:205063003" +MONDO:0017560 "ICD10CM:Q68.2" MONDO:0017213 "Orphanet:279947" MONDO:0017213 "UMLS:CN202682" MONDO:0017213 "GARD:0010809" MONDO:0019519 "Orphanet:89826" MONDO:0019519 "UMLS:CN206332" +MONDO:0012061 "ICD10CM:I49.5" MONDO:0012061 "OMIM:608567" MONDO:0012061 "MESH:D012804" MONDO:0012061 "OMIM:182190" MONDO:0012061 "Orphanet:166282" MONDO:0012061 "OMIM:163800" -MONDO:0012061 "ICD10:I49.5" MONDO:0012061 "SCTID:233913007" MONDO:0012061 "OMIMPS:608567" MONDO:0012061 "MESH:C563907" @@ -42591,10 +41605,8 @@ MONDO:0001807 "Orphanet:79211" MONDO:0001807 "SCTID:238040008" MONDO:0001807 "OMIM:144250" MONDO:0001807 "DOID:13809" -MONDO:0001807 "ICD10:E78.2" MONDO:0001807 "MESH:D006950" MONDO:0001807 "ICD9:272.4" -MONDO:0001807 "ICD10:E78.4" MONDO:0001807 "MedDRA:10027763" CL:0000064 "XAO:0000031" CL:0000064 "VHOG:0001532" @@ -42612,7 +41624,7 @@ MONDO:0021805 "UMLS:C2930969" MONDO:0015338 "UMLS:CN226660" MONDO:0015338 "Orphanet:139393" MONDO:0016412 "Orphanet:226310" -MONDO:0019929 "ICD10:Q98.1" +MONDO:0019929 "ICD10CM:Q98.1" MONDO:0019929 "GARD:0005679" MONDO:0019929 "ICD9:758.81" MONDO:0019929 "Orphanet:96264" @@ -42626,11 +41638,11 @@ MONDO:0010186 "NCIT:C131075" MONDO:0000179 "NCIT:C14089" MONDO:0000179 "SCTID:77817004" MONDO:0000179 "OMIM:616038" +MONDO:0000179 "ICD10CM:Q87.8" MONDO:0000179 "Orphanet:2671" MONDO:0000179 "ICD9:759.89" MONDO:0000179 "UMLS:C0265218" MONDO:0000179 "GARD:0000102" -MONDO:0000179 "ICD10:Q87.8" MONDO:0000179 "MESH:C536405" MONDO:0000179 "OMIM:256520" MONDO:0000179 "OMIMPS:256520" @@ -42641,8 +41653,8 @@ MONDO:0002379 "NCIT:C9014" MONDO:0002379 "DOID:2660" CL:0002243 "FMA:70611" MONDO:0018962 "SCTID:52159006" -MONDO:0018962 "ICD10:Q43.3" MONDO:0018962 "UMLS:C0266235" +MONDO:0018962 "ICD10CM:Q43.3" MONDO:0018962 "Orphanet:620" CL:1000285 "FMA:17521" MONDO:0005408 "EFO:0004596" @@ -42655,37 +41667,36 @@ MONDO:0012365 "UMLS:C1835925" MONDO:0014218 "OMIM:615508" MONDO:0014218 "UMLS:C3809719" MONDO:0014218 "Orphanet:369992" -MONDO:0014218 "ICD10:Q82.8" +MONDO:0014218 "ICD10CM:Q82.8" MONDO:0003495 "DOID:5532" MONDO:0003495 "NCIT:C40092" MONDO:0003495 "UMLS:C1518739" -MONDO:0017853 "ICD10:J67.9" -MONDO:0017853 "ICD10:J67.8" -MONDO:0017853 "ICD10:J67.7" -MONDO:0017853 "ICD10:J67.4" -MONDO:0017853 "MedDRA:10001890" +MONDO:0017853 "ICD9:495.8" +MONDO:0017853 "ICD10CM:J67.7" +MONDO:0017853 "SCTID:37471005" +MONDO:0017853 "ICD10CM:J67.3" MONDO:0017853 "GARD:0000012" +MONDO:0017853 "ICD10CM:J67.1" +MONDO:0017853 "ICD10CM:J67.0" +MONDO:0017853 "ICD10CM:J67.9" +MONDO:0017853 "ICD10CM:J67.8" MONDO:0017853 "Orphanet:31740" -MONDO:0017853 "ICD10:J67.5" -MONDO:0017853 "ICD10:J67.1" -MONDO:0017853 "ICD10:J67.0" -MONDO:0017853 "ICD9:495.8" MONDO:0017853 "ICD9:495.9" -MONDO:0017853 "SCTID:37471005" -MONDO:0017853 "ICD10:J67.6" -MONDO:0017853 "ICD10:J67.2" -MONDO:0017853 "ICD10:J67.3" +MONDO:0017853 "ICD10CM:J67.5" +MONDO:0017853 "ICD10CM:J67.4" +MONDO:0017853 "ICD10CM:J67.2" +MONDO:0017853 "ICD10CM:J67.6" +MONDO:0017853 "MedDRA:10001890" MONDO:0004314 "DOID:7639" MONDO:0004314 "UMLS:C1334575" MONDO:0004314 "NCIT:C5614" +MONDO:0011405 "ICD10CM:D82.8" MONDO:0011405 "Orphanet:221046" -MONDO:0011405 "ICD10:D82.8" -MONDO:0011405 "OMIM:604173" MONDO:0011405 "DOID:0060551" +MONDO:0011405 "OMIM:604173" MONDO:0011405 "GARD:0004085" MONDO:0006012 "EFO:0007541" MONDO:0006012 "DOID:10533" -MONDO:0006012 "ICD10:J12.9" MONDO:0006012 "ICD9:480" MONDO:0006012 "ICD9:480.9" MONDO:0006012 "UMLS:C0032310" @@ -42695,10 +41706,10 @@ MONDO:0006012 "MESH:D011024" MONDO:0009193 "OMIM:226985" MONDO:0009193 "UMLS:C1856902" MONDO:0009193 "MESH:C565584" -MONDO:0020472 "ICD10:Q96.2" MONDO:0020472 "Orphanet:99413" +MONDO:0020472 "ICD10CM:Q96.1" MONDO:0020472 "UMLS:CN207336" -MONDO:0020472 "ICD10:Q96.1" +MONDO:0020472 "ICD10CM:Q96.2" MONDO:0043003 "UMLS:C2930792" MONDO:0043003 "OMIM:100600" MONDO:0043003 "UMLS:C0000889" @@ -42712,14 +41723,14 @@ MONDO:0008392 "ICD9:334.3" MONDO:0008392 "SCTID:45853006" MONDO:0008392 "OMIM:180800" MONDO:0008392 "GARD:0004741" -MONDO:0008392 "ICD10:G60.0" +MONDO:0008392 "ICD10CM:G60.0" MONDO:0008392 "Orphanet:3115" HP:0012205 "UMLS:C0403825" HP:0012205 "SNOMEDCT_US:236818008" HP:0012205 "MSH:D000072660" MONDO:0017383 "OMIM:119800" -MONDO:0017383 "ICD10:Q66.8" MONDO:0017383 "Orphanet:293150" +MONDO:0017383 "ICD10CM:Q66.8" MONDO:0017383 "UMLS:CN203110" MONDO:0044236 "OMIM:142395" MONDO:0007195 "Orphanet:2695" @@ -42764,29 +41775,29 @@ MONDO:0012623 "OMIM:611107" MONDO:0054591 "UMLS:C4479599" MONDO:0054591 "OMIM:617516" MONDO:0019404 "SCTID:404036006" +MONDO:0019404 "ICD10CM:C47.9" MONDO:0019404 "GARD:0012698" MONDO:0019404 "ICDO:9571/0" MONDO:0019404 "MESH:D018317" MONDO:0019404 "UMLS:C0751691" -MONDO:0019404 "ICD10:C47.9" MONDO:0019404 "ICD9:215.9" MONDO:0019404 "Orphanet:85102" MONDO:0019404 "DOID:4697" MONDO:0019404 "NCIT:C4973" MONDO:0007382 "UMLS:C2930866" -MONDO:0007382 "ICD10:Q87.8" MONDO:0007382 "GARD:0004636" MONDO:0007382 "MESH:C535286" MONDO:0007382 "OMIM:122430" MONDO:0007382 "Orphanet:1051" +MONDO:0007382 "ICD10CM:Q87.8" MONDO:0004996 "NCIT:C9160" MONDO:0004996 "DOID:0070323" MONDO:0004996 "UMLS:C0220621" MONDO:0004996 "ICDO:M9861/3" MONDO:0004996 "EFO:0000330" MONDO:0018207 "UMLS:CN204723" +MONDO:0018207 "ICD10CM:Q93.5" MONDO:0018207 "Orphanet:363680" -MONDO:0018207 "ICD10:Q93.5" MONDO:0024430 "MESH:D066190" MONDO:0002952 "DOID:4295" MONDO:0002952 "UMLS:C1883723" @@ -42795,8 +41806,8 @@ MONDO:0002952 "NCIT:C27538" MONDO:0013168 "OMIM:613172" MONDO:0013168 "DOID:0110447" MONDO:0013168 "MESH:C567725" -MONDO:0013168 "ICD10:I42.0" MONDO:0013168 "UMLS:C2750995" +MONDO:0013168 "ICD10CM:I42.0" MONDO:0014114 "OMIM:615280" MONDO:0014114 "Orphanet:1340" MONDO:0014114 "DOID:0111463" @@ -42805,7 +41816,6 @@ HP:0000491 "UMLS:C0022568" HP:0000491 "SNOMEDCT_US:5888003" HP:0000491 "MSH:D007634" MONDO:0013051 "MESH:C567855" -MONDO:0013051 "ICD10:Q82.8" MONDO:0013051 "GARD:0001641" MONDO:0013051 "UMLS:C2751987" MONDO:0013051 "DOID:0070137" @@ -42823,7 +41833,7 @@ MONDO:0019372 "ICD9:733.21" MONDO:0019372 "NCIT:C2904" MONDO:0019372 "Orphanet:83468" MONDO:0019372 "MESH:D001845" -MONDO:0019372 "ICD10:M85.4" +MONDO:0019372 "ICD10CM:M85.4" MONDO:0019708 "Orphanet:93450" MONDO:0011176 "OMIM:602014" MONDO:0011176 "MESH:C566593" @@ -42832,13 +41842,12 @@ MONDO:0011176 "SCTID:190856003" MONDO:0011176 "DOID:0060883" MONDO:0011176 "Orphanet:30924" MONDO:0011176 "UMLS:C1865974" -MONDO:0011176 "ICD10:E83.4" +MONDO:0011176 "ICD10CM:E83.4" MONDO:0001095 "UMLS:C1334673" MONDO:0001095 "DOID:10660" MONDO:0001095 "EFO:1000367" MONDO:0001095 "NCIT:C6628" MONDO:0008329 "GARD:0009145" -MONDO:0008329 "ICD10:N25.8" MONDO:0008329 "Orphanet:171871" MONDO:0008329 "DOID:0060855" MONDO:0008329 "OMIM:177735" @@ -42846,16 +41855,17 @@ MONDO:0008329 "UMLS:C1449842" MONDO:0008329 "MESH:D011546" MONDO:0008329 "Orphanet:756" MONDO:0008329 "NCIT:C126810" +MONDO:0008329 "ICD10CM:N25.8" NCBITaxon:1056966 "GC_ID:1" +MONDO:0013355 "ICD10CM:D64.4" MONDO:0013355 "UMLS:C3150926" MONDO:0013355 "SCTID:719453009" MONDO:0013355 "Orphanet:293825" MONDO:0013355 "DOID:0111400" -MONDO:0013355 "ICD10:D64.4" MONDO:0013355 "OMIM:613673" MONDO:0014492 "UMLS:C4015202" MONDO:0014492 "Orphanet:420686" -MONDO:0014492 "ICD10:Q82.8" +MONDO:0014492 "ICD10CM:Q82.8" MONDO:0014492 "OMIM:616099" MONDO:0014492 "SCTID:764108000" MONDO:0001103 "DOID:10718" @@ -42863,7 +41873,6 @@ MONDO:0001103 "MESH:D005873" MONDO:0001103 "ICD9:007.1" MONDO:0001103 "UMLS:C0017536" MONDO:0001103 "SCTID:10679007" -MONDO:0001103 "ICD10:A07.1" MONDO:0021101 "DOID:8151" MONDO:0021101 "NCIT:C27445" MONDO:0021101 "UMLS:C3274138" @@ -42872,44 +41881,43 @@ MONDO:0012039 "OMIM:608446" MONDO:0014796 "DOID:0060896" MONDO:0014796 "UMLS:C4225186" MONDO:0014796 "OMIM:616840" -MONDO:0014796 "ICD10:G20" MONDO:0012215 "OMIM:609200" MONDO:0012215 "SCTID:719985001" MONDO:0012215 "DOID:0110300" MONDO:0012215 "MESH:C563775" MONDO:0012215 "Orphanet:266" MONDO:0012215 "SCTID:765196004" -MONDO:0012215 "ICD10:G71.0" MONDO:0012215 "UMLS:C1834659" MONDO:0012215 "UMLS:C1836607" MONDO:0012215 "Orphanet:98911" MONDO:0012215 "GARD:0010229" MONDO:0012215 "DOID:0080094" MONDO:0012215 "OMIM:159000" -MONDO:0012215 "ICD10:G71.8" +MONDO:0012215 "ICD10CM:G71.0" MONDO:0012215 "MESH:C535906" +MONDO:0012215 "ICD10CM:G71.8" MONDO:0018377 "Orphanet:399185" MONDO:0018377 "UMLS:CN205038" MONDO:0015674 "OMIM:204500" MONDO:0015674 "OMIM:256730" MONDO:0015674 "OMIM:610127" -MONDO:0015674 "ICD10:E75.4" +MONDO:0015674 "ICD10CM:E75.4" MONDO:0015674 "OMIM:600143" MONDO:0015674 "OMIM:256731" MONDO:0015674 "Orphanet:168491" MONDO:0015674 "SCTID:14637005" MONDO:0015674 "OMIM:610951" MONDO:0015674 "OMIM:601780" -MONDO:0015850 "ICD10:Q52.1" +MONDO:0015850 "ICD10CM:Q52.1" MONDO:0015850 "HP:0000145" +MONDO:0015850 "ICD10CM:Q52.11" MONDO:0015850 "Orphanet:180160" -MONDO:0015850 "ICD10:Q52.11" -MONDO:0020112 "ICD10:D53.2" -MONDO:0020112 "ICD10:D53.9" -MONDO:0020112 "ICD10:D53.0" -MONDO:0020112 "ICD10:D53.1" +MONDO:0020112 "ICD10CM:D53.9" +MONDO:0020112 "ICD10CM:D53.1" +MONDO:0020112 "ICD10CM:D53.0" MONDO:0020112 "Orphanet:98415" -MONDO:0020112 "ICD10:D53.8" +MONDO:0020112 "ICD10CM:D53.8" +MONDO:0020112 "ICD10CM:D53.2" MONDO:0002544 "DOID:3187" MONDO:0002544 "NCIT:C9377" MONDO:0002544 "UMLS:C0346286" @@ -42917,10 +41925,8 @@ MONDO:0002544 "SCTID:254940005" MONDO:0004471 "EFO:1001351" MONDO:0004471 "ICD9:711.94" MONDO:0004471 "MESH:D001170" -MONDO:0004471 "ICD10:M00" MONDO:0004471 "ICD9:711.97" MONDO:0004471 "ICD9:711.96" -MONDO:0004471 "ICD10:M00.9" MONDO:0004471 "ICD9:711.0" MONDO:0004471 "ICD9:711.91" MONDO:0004471 "ICD9:711.90" @@ -42939,7 +41945,6 @@ MONDO:0029001 "MESH:D064419" CL:1000493 "FMA:86739" MONDO:0010257 "UMLS:C1846279" MONDO:0010257 "OMIM:300147" -MONDO:0100121 "https://www.clinicalgenome.org/affiliation/40061/" HP:0002072 "SNOMEDCT_US:271700006" HP:0002072 "UMLS:C0008489" HP:0002072 "MSH:D002819" @@ -42948,23 +41953,22 @@ MONDO:0000909 "UMLS:C2751312" MONDO:0000909 "Orphanet:89938" MONDO:0000909 "DOID:0110146" MONDO:0000909 "OMIM:613090" -MONDO:0000909 "ICD10:E26.8" MONDO:0000909 "Orphanet:112" -MONDO:0019795 "ICD10:Q00.0" MONDO:0019795 "Orphanet:945" MONDO:0019795 "MESH:C535570" +MONDO:0019795 "ICD10CM:Q00.0" MONDO:0019795 "SCTID:203923004" MONDO:0019795 "GARD:0000361" MONDO:0019795 "UMLS:C2930936" +MONDO:0031481 "OMIM:614231" +MONDO:0031481 "Orphanet:306558" +MONDO:0031481 "UMLS:C3280240" MONDO:0008242 "SCTID:237612000" MONDO:0008242 "GARD:0009267" MONDO:0008242 "ICD9:583.9" MONDO:0008242 "MESH:C538113" MONDO:0008242 "UMLS:C1809475" MONDO:0008242 "OMIM:172500" -MONDO:0031481 "OMIM:614231" -MONDO:0031481 "Orphanet:306558" -MONDO:0031481 "UMLS:C3280240" MONDO:0005192 "SCTID:372142002" MONDO:0005192 "UMLS:C0235974" MONDO:0005192 "DOID:4905" @@ -42980,18 +41984,18 @@ MONDO:0018598 "OMIM:202370" MONDO:0018598 "SCTID:238061001" MONDO:0018598 "GARD:0000559" MONDO:0018598 "OMIM:614863" +MONDO:0018598 "ICD10CM:E71.3" MONDO:0018598 "OMIM:614885" MONDO:0018598 "OMIM:614877" MONDO:0018598 "OMIM:614871" -MONDO:0018598 "ICD10:E71.511" -MONDO:0018598 "ICD10:E71.3" MONDO:0018598 "Orphanet:44" +MONDO:0018598 "ICD10CM:E71.511" MONDO:0018598 "OMIM:614867" MONDO:0018598 "UMLS:C0282525" MONDO:0003946 "DOID:6613" MONDO:0003946 "UMLS:C1519936" MONDO:0003946 "NCIT:C40259" -MONDO:0007045 "ICD10:Q75.4" +MONDO:0007045 "ICD10CM:Q75.4" MONDO:0007045 "UMLS:C2931762" MONDO:0007045 "MESH:C538182" MONDO:0007045 "OMIM:101805" @@ -43007,18 +42011,18 @@ MONDO:0014084 "DOID:0060557" MONDO:0014084 "OMIM:615217" MONDO:0014084 "GARD:0013112" MONDO:0014084 "UMLS:C3554690" -MONDO:0020333 "ICD10:C96.2" MONDO:0020333 "DOID:4798" MONDO:0020333 "SCTID:716655008" MONDO:0020333 "ICDO:9741/3" MONDO:0020333 "UMLS:C1112486" MONDO:0020333 "NCIT:C9285" +MONDO:0020333 "ICD10CM:C96.2" MONDO:0020333 "ONCOTREE:ASM" MONDO:0020333 "Orphanet:98850" MONDO:0020333 "MedDRA:10056453" MONDO:0010444 "OMIM:300835" MONDO:0010444 "Orphanet:363727" -MONDO:0010444 "ICD10:D64.4" +MONDO:0010444 "ICD10CM:D64.4" CL:0002087 "FMA:62855" HP:0000290 "UMLS:C4025867" NCBITaxon:32003 "PMID:16403855" @@ -43030,8 +42034,8 @@ NCBITaxon:32003 "GC_ID:11" NCBITaxon:32003 "PMID:10028253" MONDO:0019982 "MESH:D021782" MONDO:0019982 "GARD:0009517" +MONDO:0019982 "ICD10CM:Q61.4" MONDO:0019982 "Orphanet:97364" -MONDO:0019982 "ICD10:Q61.4" MONDO:0019982 "SCTID:717749002" MONDO:0014670 "OMIM:616503" MONDO:0014670 "UMLS:C4225303" @@ -43042,16 +42046,16 @@ MONDO:0012092 "PMID:77656" MONDO:0012092 "PMID:14976160" MONDO:0012092 "GARD:0012328" MONDO:0012092 "SCTID:128206006" -MONDO:0012092 "ICD10:G60.8" +MONDO:0012092 "ICD10CM:G60.8" MONDO:0012092 "Orphanet:64752" MONDO:0012092 "NCIT:C125386" MONDO:0016028 "UMLS:C0014804" MONDO:0016028 "MESH:D004916" MONDO:0016028 "ICD9:443.82" -MONDO:0016028 "ICD10:I73.81" MONDO:0016028 "DOID:9240" MONDO:0016028 "NCIT:C34593" -MONDO:0016028 "ICD10:I73.8" +MONDO:0016028 "ICD10CM:I73.81" +MONDO:0016028 "ICD10CM:I73.8" MONDO:0016028 "SCTID:37151006" MONDO:0016028 "Orphanet:1956" MONDO:0016028 "MedDRA:10015284" @@ -43060,42 +42064,38 @@ MONDO:0021836 "GARD:0000579" MONDO:0000773 "DOID:0060498" MONDO:0007232 "GARD:0010429" MONDO:0007232 "SCTID:717264003" -MONDO:0007232 "ICD10:Q76.3" +MONDO:0007232 "ICD10CM:Q76.3" MONDO:0007232 "OMIM:113500" MONDO:0007232 "Orphanet:93304" MONDO:0006676 "DOID:13725" MONDO:0006676 "DOID:0070313" MONDO:0006676 "EFO:1000837" -MONDO:0006676 "ICD10:E51.1" MONDO:0006676 "MESH:D001602" MONDO:0006676 "ICD9:265.0" MONDO:0006676 "GARD:0009948" MONDO:0006676 "UMLS:C0005122" MONDO:0006676 "SCTID:36656008" MONDO:0006676 "MedDRA:10004482" -MONDO:0006676 "ICD10:E51.11" MONDO:0006676 "NCIT:C34418" MONDO:0005920 "NCIT:C34798" MONDO:0005920 "ICD9:084.0" MONDO:0005920 "EFO:0007444" MONDO:0005920 "ICD9:084.9" -MONDO:0005920 "ICD10:B50.9" MONDO:0005920 "UMLS:C0024535" MONDO:0005920 "DOID:14067" -MONDO:0005920 "ICD10:B50" MONDO:0005920 "MESH:D016778" MONDO:0005920 "SCTID:62676009" MONDO:0020639 "MESH:D009006" MONDO:0020639 "NCIT:C3239" NCBITaxon:7496 "GC_ID:1" -MONDO:0014271 "ICD10:E77.8" MONDO:0014271 "OMIM:615597" MONDO:0014271 "DOID:0080573" +MONDO:0014271 "ICD10CM:E77.8" MONDO:0014271 "UMLS:C2931007" MONDO:0014271 "MESH:C535751" MONDO:0014271 "Orphanet:370924" MONDO:0014271 "SCTID:733112007" -MONDO:0014609 "ICD10:Q87.8" +MONDO:0014609 "ICD10CM:Q87.8" MONDO:0014609 "UMLS:C4085597" MONDO:0014609 "Orphanet:444077" MONDO:0014609 "SCTID:764455002" @@ -43107,18 +42107,17 @@ MONDO:0011026 "OMIM:601277" MONDO:0011026 "Orphanet:313" MONDO:0011026 "DOID:0060712" MONDO:0011026 "MESH:C537264" -MONDO:0011026 "ICD10:Q80.2" MONDO:0012100 "UMLS:C1837529" MONDO:0012100 "MESH:C563875" MONDO:0012100 "OMIM:608691" MONDO:0015269 "Orphanet:1314" -MONDO:0015269 "ICD10:G93.8" MONDO:0015269 "GARD:0005070" MONDO:0015269 "UMLS:C4304914" MONDO:0015269 "SCTID:719164000" -MONDO:0017469 "ICD10:Q68.8" +MONDO:0015269 "ICD10CM:G93.8" +MONDO:0017469 "ICD10CM:Q68.8" MONDO:0017469 "Orphanet:295032" -MONDO:0016215 "ICD10:G11.4" +MONDO:0016215 "ICD10CM:G11.4" MONDO:0016215 "OMIMPS:603513" MONDO:0016215 "NCIT:C116904" MONDO:0016215 "DOID:10970" @@ -43134,7 +42133,7 @@ MONDO:0016215 "ICD9:343.2" MONDO:0016215 "GARD:0010447" MONDO:0016215 "UMLS:C0154697" MONDO:0008650 "OMIM:192800" -MONDO:0008650 "ICD10:Q87.5" +MONDO:0008650 "ICD10CM:Q87.5" MONDO:0008650 "SCTID:724064004" MONDO:0008650 "GARD:0002276" MONDO:0008650 "Orphanet:2064" @@ -43144,19 +42143,19 @@ MONDO:0008650 "MESH:C536344" MONDO:0013205 "OMIM:613269" MONDO:0013205 "UMLS:C2750449" MONDO:0013205 "Orphanet:98974" +MONDO:0032887 "OMIM:618730" +MONDO:0015477 "ICD10CM:Q18.8" +MONDO:0015477 "Orphanet:155838" MONDO:0045050 "SCTID:53889007" MONDO:0045050 "ICD9:366.04" MONDO:0045050 "HP:0100018" -MONDO:0032887 "OMIM:618730" -MONDO:0015477 "Orphanet:155838" -MONDO:0015477 "ICD10:Q18.8" MONDO:0007739 "MedDRA:10070668" MONDO:0007739 "DOID:12858" MONDO:0007739 "KEGG:05016" MONDO:0007739 "GARD:0006677" MONDO:0007739 "SCTID:58756001" MONDO:0007739 "ICD9:333.4" -MONDO:0007739 "ICD10:G10" +MONDO:0007739 "ICD10CM:G10-G14" MONDO:0007739 "OMIM:143100" MONDO:0007739 "NCIT:C82342" MONDO:0007739 "Orphanet:399" @@ -43165,11 +42164,11 @@ MONDO:0007739 "UMLS:C0020179" MONDO:0011341 "OMIM:603572" MONDO:0011341 "UMLS:C1863702" MONDO:0011341 "MESH:C566361" -MONDO:0013541 "DOID:0090137" +MONDO:0013541 "ICD10CM:Q04.3" MONDO:0013541 "OMIM:614039" +MONDO:0013541 "DOID:0090137" MONDO:0013541 "Orphanet:300570" MONDO:0013541 "UMLS:CN203402" -MONDO:0013541 "ICD10:Q04.3" MONDO:0013541 "GARD:0013032" MONDO:0003534 "NCIT:C27937" MONDO:0003534 "UMLS:C1335327" @@ -43181,37 +42180,34 @@ MONDO:0001260 "SCTID:238534006" MONDO:0001260 "UMLS:C4282208" MONDO:0001260 "UMLS:C0546996" MONDO:0001260 "DOID:11302" -MONDO:0001260 "ICD10:B65.3" MONDO:0001260 "GARD:0009747" +MONDO:0001260 "ICD10CM:B65.3" MONDO:0001260 "NCIT:C128349" MONDO:0017656 "Orphanet:306765" MONDO:0016198 "Orphanet:209196" -MONDO:0001494 "ICD10:F65.1" +MONDO:0019227 "Orphanet:79179" MONDO:0001494 "SCTID:472981000" MONDO:0001494 "NCIT:C94359" MONDO:0001494 "DOID:1233" -MONDO:0001494 "ICD10:F64.1" MONDO:0001494 "UMLS:C0040774" MONDO:0001494 "ICD9:302.3" MONDO:0001494 "MESH:D014190" -MONDO:0019227 "Orphanet:79179" MONDO:0002440 "SCTID:367328005" MONDO:0002440 "NCIT:C35434" MONDO:0002440 "DOID:2839" -MONDO:0002440 "ICD10:D75.1" MONDO:0002440 "UMLS:C0391869" NCBITaxon:776 "GC_ID:11" MONDO:0020511 "Orphanet:99860" MONDO:0020511 "NCIT:C8644" -MONDO:0020511 "ICD10:C91.0" MONDO:0020511 "UMLS:C0006413" +MONDO:0020511 "ICD10CM:C83.5" MONDO:0020511 "ICDO:9836/3" -MONDO:0020511 "ICD10:C83.5" MONDO:0020511 "OMIM:615545" +MONDO:0020511 "ICD10CM:C91.0" MONDO:0023692 "OMIM:248600" MONDO:0023692 "GARD:0008597" MONDO:0012782 "OMIM:612011" -MONDO:0008195 "ICD10:G71.1" +MONDO:0008195 "ICD10CM:G71.1" MONDO:0008195 "DOID:0111538" MONDO:0008195 "SCTID:41574007" MONDO:0008195 "OMIM:168300" @@ -43230,22 +42226,21 @@ MONDO:0003079 "ICD9:238.5" MONDO:0003079 "ICDO:9740/1" MONDO:0003079 "UMLS:C0024897" MONDO:0001681 "SCTID:48278001" +MONDO:0001681 "ICD10CM:A36.85" MONDO:0001681 "DOID:13306" -MONDO:0001681 "ICD10:A36.85" MONDO:0001681 "ICD9:032.84" MONDO:0001681 "UMLS:C0152954" MONDO:0001767 "UMLS:C0155244" MONDO:0001767 "ICD9:375.52" MONDO:0001767 "DOID:13653" MONDO:0001767 "SCTID:74783009" -MONDO:0001767 "ICD10:H04.56" MONDO:0003881 "DOID:6448" MONDO:0003881 "NCIT:C40308" MONDO:0003881 "UMLS:C2202741" MONDO:0004881 "UMLS:C0158362" +MONDO:0004881 "ICD10CM:M60.1" MONDO:0004881 "ICD9:728.81" MONDO:0004881 "DOID:9788" -MONDO:0004881 "ICD10:M60.1" MONDO:0004881 "NCIT:C26985" MONDO:0004881 "SCTID:55925001" MONDO:0011770 "UMLS:C1846837" @@ -43254,20 +42249,20 @@ MONDO:0011770 "MESH:C564627" MONDO:0011770 "OMIM:607087" MONDO:0007538 "OMIM:130900" MONDO:0007538 "Orphanet:100032" -MONDO:0007538 "ICD10:K00.5" +MONDO:0007538 "ICD10CM:K00.5" MONDO:0007538 "DOID:0110055" MONDO:0007538 "SCTID:109471001" MONDO:0007538 "OMIM:616221" MONDO:0007538 "MESH:C562880" MONDO:0019398 "OMIM:602771" -MONDO:0019398 "ICD10:G71.8" MONDO:0019398 "Orphanet:84132" +MONDO:0019398 "ICD10CM:G71.8" HP:0011016 "UMLS:C4023596" MONDO:0003948 "UMLS:C0877388" MONDO:0003948 "DOID:6621" MONDO:0003948 "NCIT:C5433" MONDO:0019574 "SCTID:717255008" -MONDO:0019574 "ICD10:I89.0" +MONDO:0019574 "ICD10CM:I89.0" MONDO:0019574 "Orphanet:90363" MONDO:0019574 "UMLS:C4273969" CL:0000893 "CALOHA:TS-1042" @@ -43276,8 +42271,8 @@ CL:0000893 "XAO:0003159" CL:0000893 "FMA:72202" NCBITaxon:2731360 "GC_ID:1" MONDO:0017530 "UMLS:CN203261" +MONDO:0017530 "ICD10CM:Q70.4" MONDO:0017530 "Orphanet:295161" -MONDO:0017530 "ICD10:Q70.4" MONDO:0000365 "OMIM:613085" MONDO:0000365 "UMLS:C1533041" MONDO:0000365 "DOID:0050593" @@ -43298,17 +42293,17 @@ MONDO:0005053 "EFO:0000556" MONDO:0005053 "DOID:326" MONDO:0005053 "MESH:D007511" MONDO:0005053 "SCTID:52674009" +MONDO:0018459 "ICD10CM:E74.8" MONDO:0018459 "OMIM:307030" -MONDO:0018459 "ICD10:E74.8" MONDO:0018459 "GARD:0002807" MONDO:0018459 "Orphanet:408" MONDO:0009644 "MESH:C565373" +MONDO:0009644 "ICD10CM:E72.1" MONDO:0009644 "PMID:10053004" MONDO:0009644 "Orphanet:833" MONDO:0009644 "Orphanet:308393" MONDO:0009644 "Orphanet:99732" MONDO:0009644 "UMLS:C1854989" -MONDO:0009644 "ICD10:E72.1" MONDO:0009644 "DOID:0111163" MONDO:0009644 "OMIM:252160" MONDO:0010856 "SCTID:765331004" @@ -43318,17 +42313,17 @@ MONDO:0010856 "OMIM:600273" MONDO:0010856 "MESH:C536328" MONDO:0010856 "GARD:0009481" MONDO:0017658 "Orphanet:306773" -MONDO:0017658 "ICD10:G25.8" +MONDO:0017658 "ICD10CM:G25.8" MONDO:0016771 "SCTID:720493003" MONDO:0016771 "GARD:0012676" MONDO:0016771 "Orphanet:254411" -MONDO:0016771 "ICD10:L43.8" +MONDO:0016771 "ICD10CM:L43.8" MONDO:0016771 "UMLS:C4304037" CL:0002252 "FMA:63071" MONDO:0018971 "OMIM:616602" MONDO:0018971 "OMIM:123100" +MONDO:0018971 "ICD10CM:Q75.0" MONDO:0018971 "Orphanet:63440" -MONDO:0018971 "ICD10:Q75.0" MONDO:0018971 "SCTID:48069004" MONDO:0000552 "NCIT:C3771" MONDO:0000552 "DOID:0050938" @@ -43346,8 +42341,8 @@ MONDO:0024526 "OMIM:135500" MONDO:0060591 "UMLS:C4540293" MONDO:0060591 "OMIM:617744" MONDO:0008885 "MESH:C566373" +MONDO:0008885 "ICD10CM:Q87.8" MONDO:0008885 "OMIM:211380" -MONDO:0008885 "ICD10:Q87.8" MONDO:0008885 "OMIM:603463" MONDO:0008885 "MESH:C537084" MONDO:0008885 "UMLS:C1863870" @@ -43356,23 +42351,22 @@ MONDO:0008885 "SCTID:719097002" MONDO:0008885 "Orphanet:157788" MONDO:0008885 "GARD:0000955" MONDO:0008885 "DOID:0080631" -MONDO:0009831 "SCTID:126859007" -MONDO:0009831 "ICD10:C25.9" -MONDO:0009831 "MESH:D010190" -MONDO:0009831 "NCIT:C9005" MONDO:0009831 "ICD9:157.0" -MONDO:0009831 "UMLS:C0235974" -MONDO:0009831 "ICD9:157.1" +MONDO:0009831 "EFO:1000359" MONDO:0009831 "Orphanet:1333" +MONDO:0009831 "UMLS:C0235974" +MONDO:0009831 "KEGG:05212" MONDO:0009831 "ICD9:157.2" -MONDO:0009831 "EFO:1000359" -MONDO:0009831 "ICD9:157.8" +MONDO:0009831 "ICD9:157.1" +MONDO:0009831 "NCIT:C9005" MONDO:0009831 "DOID:1793" -MONDO:0009831 "KEGG:05212" +MONDO:0009831 "SCTID:126859007" +MONDO:0009831 "ICD9:157.8" +MONDO:0009831 "MESH:D010190" HP:0000587 "UMLS:C0029131" -MONDO:0017188 "ICD10:E16.1" MONDO:0017188 "Orphanet:276603" MONDO:0017188 "OMIM:601820" +MONDO:0017188 "ICD10CM:E16.1" MONDO:0010739 "OMIM:313480" MONDO:0015876 "UMLS:CN200482" MONDO:0015876 "Orphanet:180312" @@ -43382,7 +42376,7 @@ MONDO:0004323 "MESH:D009133" MONDO:0004323 "NCIT:C94834" MONDO:0004323 "SCTID:88092000" MONDO:0017845 "UMLS:C1849156" -MONDO:0017845 "ICD10:G11.4" +MONDO:0017845 "ICD10CM:G11.4" MONDO:0017845 "Orphanet:316226" MONDO:0017845 "MESH:C564815" MONDO:0017845 "DOID:0050952" @@ -43395,35 +42389,33 @@ MONDO:0021271 "NCIT:C3495" MONDO:0021271 "SCTID:309084001" MONDO:0021271 "UMLS:C0149862" MONDO:0009011 "UMLS:C1857578" -MONDO:0009011 "ICD10:Q79.8" MONDO:0009011 "Orphanet:295000" MONDO:0009011 "OMIM:217100" +MONDO:0009011 "ICD10CM:Q79.8" MONDO:0009011 "Orphanet:93937" MONDO:0003126 "NCIT:C5353" MONDO:0003126 "DOID:476" MONDO:0003126 "UMLS:C0853715" -MONDO:0004497 "ICD10:A52.9" MONDO:0004497 "NCIT:C128414" MONDO:0004497 "ICD9:095.8" +MONDO:0004497 "ICD10CM:A52.3" MONDO:0004497 "MESH:C536774" -MONDO:0004497 "ICD10:A52" MONDO:0004497 "UMLS:C0153188" MONDO:0004497 "SCTID:72083004" MONDO:0004497 "DOID:8200" -MONDO:0004497 "ICD10:A52.3" MONDO:0004497 "ICD9:095.9" MONDO:0004497 "ICD9:097.0" MONDO:0023124 "GARD:0010455" MONDO:0032889 "OMIM:618732" MONDO:0006502 "EFO:1000637" MONDO:0006502 "MedDRA:10001052" -MONDO:0006502 "ICD10:J80" MONDO:0006502 "GARD:0005698" +MONDO:0006502 "ICD10CM:J80" MONDO:0006502 "NCIT:C3353" +MONDO:0009467 "ICD10CM:Q87.8" MONDO:0009467 "GARD:0003928" MONDO:0009467 "UMLS:C1855732" MONDO:0009467 "Orphanet:1654" -MONDO:0009467 "ICD10:Q87.8" MONDO:0009467 "OMIM:243185" MONDO:0009467 "MESH:C538341" HP:0010990 "UMLS:C4023609" @@ -43431,7 +42423,7 @@ MONDO:0004510 "NCIT:C6508" MONDO:0004510 "DOID:8233" MONDO:0004510 "UMLS:C1370890" MONDO:0017916 "Orphanet:320350" -MONDO:0017916 "ICD10:G11.4" +MONDO:0017916 "ICD10CM:G11.4" MONDO:0014076 "Orphanet:1775" MONDO:0014076 "OMIM:615190" MONDO:0014076 "Orphanet:3322" @@ -43448,14 +42440,14 @@ MONDO:0002757 "ICD9:381.06" MONDO:0002757 "DOID:3728" MONDO:0007904 "Orphanet:2699" MONDO:0007904 "UMLS:C1835396" -MONDO:0007904 "ICD10:Q18.8" MONDO:0007904 "OMIM:151630" MONDO:0007904 "SCTID:722034006" +MONDO:0007904 "ICD10CM:Q18.8" MONDO:0007904 "GARD:0003440" +MONDO:0020513 "ICD10CM:C62.9" MONDO:0020513 "ICDO:9063/3" MONDO:0020513 "Orphanet:99865" MONDO:0020513 "DOID:5834" -MONDO:0020513 "ICD10:C62.9" MONDO:0020513 "OMIM:273300" MONDO:0020513 "NCIT:C39921" MONDO:0020513 "DOID:7891" @@ -43463,19 +42455,21 @@ MONDO:0020513 "UMLS:C0334517" MONDO:0016059 "SCTID:716007007" MONDO:0016059 "Orphanet:2003" MONDO:0016059 "UMLS:CN200748" -MONDO:0016059 "ICD10:Q87.8" +MONDO:0016059 "ICD10CM:Q87.8" MONDO:0019006 "UMLS:CN536255" MONDO:0019006 "OMIM:616220" MONDO:0019006 "SCTID:718141008" +MONDO:0019006 "ICD10CM:N04.1" MONDO:0019006 "OMIM:616892" MONDO:0019006 "OMIM:613237" MONDO:0019006 "OMIM:616893" MONDO:0019006 "UMLS:C4273714" MONDO:0019006 "OMIM:256370" MONDO:0019006 "OMIM:607832" -MONDO:0019006 "ICD10:N04.8" MONDO:0019006 "OMIM:616032" +MONDO:0019006 "ICD10CM:N04.8" MONDO:0019006 "OMIM:603278" +MONDO:0019006 "ICD10CM:N04.3" MONDO:0019006 "OMIM:616002" MONDO:0019006 "OMIM:600995" MONDO:0019006 "OMIM:614131" @@ -43484,9 +42478,7 @@ MONDO:0019006 "OMIM:615244" MONDO:0019006 "Orphanet:656" MONDO:0019006 "OMIM:615861" MONDO:0019006 "OMIM:614196" -MONDO:0019006 "ICD10:N04.1" MONDO:0019006 "OMIM:610725" -MONDO:0019006 "ICD10:N04.3" MONDO:0019006 "UMLS:C1868672" MONDO:0019006 "OMIM:615573" MONDO:0019006 "OMIM:616730" @@ -43504,7 +42496,6 @@ MONDO:0001355 "ICD9:360.23" MONDO:0001355 "SCTID:25277000" MONDO:0001355 "DOID:11754" MONDO:0001355 "UMLS:C0271001" -MONDO:0001355 "ICD10:H44.32" MONDO:0007258 "UMLS:C1861899" MONDO:0007258 "OMIM:114600" MONDO:0026045 "GARD:0007480" @@ -43519,10 +42510,10 @@ MONDO:0004731 "OMIM:207720" MONDO:0004731 "MESH:D020182" MONDO:0004731 "SCTID:27405005" MONDO:0004731 "DOID:9220" +MONDO:0004731 "ICD10CM:G47.31" MONDO:0004731 "UMLS:C0751762" MONDO:0004731 "NCIT:C27169" MONDO:0004731 "UMLS:C3887547" -MONDO:0004731 "ICD10:G47.31" MONDO:0016928 "Orphanet:262633" MONDO:0016928 "SCTID:726346004" MONDO:0014297 "Orphanet:2754" @@ -43530,16 +42521,15 @@ MONDO:0014297 "OMIM:615665" MONDO:0014297 "UMLS:C3810278" MONDO:0014297 "DOID:0110991" HP:0000008 "UMLS:C4025900" -MONDO:0001769 "ICD10:H04.55" MONDO:0001769 "SCTID:193995004" MONDO:0001769 "ICD9:375.56" MONDO:0001769 "DOID:13655" MONDO:0032761 "OMIM:618456" MONDO:0032761 "DOID:0111642" MONDO:0008338 "MESH:C566739" -MONDO:0008338 "ICD10:Q79.8" MONDO:0008338 "GARD:0013058" MONDO:0008338 "UMLS:C1867440" +MONDO:0008338 "ICD10CM:Q79.8" MONDO:0008338 "Orphanet:65743" MONDO:0008338 "OMIM:178110" MONDO:0014934 "DOID:0111615" @@ -43548,19 +42538,19 @@ MONDO:0014934 "OMIM:617133" MONDO:0009896 "OMIM:263550" MONDO:0009896 "UMLS:C1849731" MONDO:0009896 "MESH:C535524" -MONDO:0018403 "ICD10:N97.2" +MONDO:0018403 "ICD10CM:N97.2" MONDO:0018403 "Orphanet:399882" MONDO:0023020 "GARD:0001985" MONDO:0013364 "Orphanet:783" MONDO:0013364 "UMLS:C3150941" -MONDO:0013364 "ICD10:Q87.2" MONDO:0013364 "Orphanet:353284" MONDO:0013364 "NCIT:C153291" +MONDO:0013364 "ICD10CM:Q87.2" MONDO:0013364 "OMIM:613684" MONDO:0003244 "DOID:502" MONDO:0003244 "UMLS:C1332893" MONDO:0003244 "NCIT:C5449" -MONDO:0014310 "ICD10:Q82.8" +MONDO:0014310 "ICD10CM:Q82.8" MONDO:0014310 "UMLS:C3810325" MONDO:0014310 "GARD:0013218" MONDO:0014310 "OMIM:615704" @@ -43569,13 +42559,13 @@ HP:0008055 "UMLS:C4024746" NCBITaxon:12090 "GC_ID:1" MONDO:0015308 "SCTID:724205009" MONDO:0015308 "Orphanet:137871" -MONDO:0015308 "ICD10:E88.8" +MONDO:0015308 "ICD10CM:E88.8" MONDO:0015308 "UMLS:C4518324" -MONDO:0017508 "ICD10:Q71.3" MONDO:0017508 "Orphanet:295114" +MONDO:0017508 "ICD10CM:Q71.3" MONDO:0019435 "UMLS:C3890733" MONDO:0019435 "Orphanet:85435" -MONDO:0019435 "ICD10:M08.0" +MONDO:0019435 "ICD10CM:M08.0" MONDO:0019435 "NCIT:C119034" MONDO:0014766 "OMIM:616763" MONDO:0014766 "UMLS:C4225213" @@ -43607,29 +42597,27 @@ MONDO:0024528 "OMIM:157640" MONDO:0024528 "UMLS:C1834846" MONDO:0019093 "GARD:0011903" MONDO:0019093 "Orphanet:70593" -MONDO:0019093 "ICD10:D80.8" +MONDO:0019093 "ICD10CM:D80.8" MONDO:0019093 "UMLS:C0398711" MONDO:0019093 "SCTID:234556002" MONDO:0016749 "Orphanet:252057" MONDO:0016749 "GARD:0012697" MONDO:0016749 "UMLS:CN201996" MONDO:0018112 "OMIM:123100" -MONDO:0018112 "ICD10:Q75.0" MONDO:0018112 "OMIM:615529" +MONDO:0018112 "ICD10CM:Q75.0" MONDO:0018112 "Orphanet:35093" MONDO:0018112 "OMIM:600775" MONDO:0013754 "UMLS:C3280798" MONDO:0013754 "Orphanet:90349" MONDO:0013754 "OMIM:614437" MONDO:0013754 "DOID:0070133" -MONDO:0013754 "ICD10:Q82.8" MONDO:0006620 "UMLS:C1336978" MONDO:0006620 "NCIT:C6857" MONDO:0006620 "EFO:1000777" MONDO:0006620 "DOID:8255" MONDO:0015479 "Orphanet:155878" -MONDO:0015479 "ICD10:Q35.9" -MONDO:0020316 "ICD10:C92.5" +MONDO:0015479 "ICD10CM:Q35.9" MONDO:0020316 "Orphanet:98829" MONDO:0020316 "GARD:0000536" HP:0000095 "UMLS:C4025889" @@ -43637,7 +42625,6 @@ HP:0000752 "SNOMEDCT_US:44548000" HP:0000752 "MSH:D006948" HP:0000752 "UMLS:C0424295" MONDO:0008234 "NCIT:C3226" -MONDO:0008234 "ICD10:E31.22" MONDO:0008234 "UMLS:C0025268" MONDO:0008234 "ICD9:258.02" MONDO:0008234 "Orphanet:653" @@ -43646,24 +42633,21 @@ MONDO:0008234 "SCTID:721188000" MONDO:0008234 "DOID:0050430" MONDO:0008234 "OMIM:171400" MONDO:0008234 "UMLS:C1833921" -MONDO:0008234 "ICD10:D44.8" MONDO:0008234 "MESH:D018813" +MONDO:0008234 "ICD10CM:D44.8" MONDO:0008234 "SCTID:61808009" MONDO:0008234 "GARD:0004881" +MONDO:0017353 "ICD10CM:E72.5" MONDO:0017353 "UMLS:C0751748" -MONDO:0017353 "ICD10:E72.5" MONDO:0017353 "Orphanet:289857" MONDO:0019280 "NCIT:C79597" -MONDO:0019280 "ICD10:L68.3" MONDO:0019280 "SCTID:29966009" MONDO:0019280 "HP:0000998" MONDO:0019280 "UMLS:C0020555" MONDO:0019280 "MESH:D006983" -MONDO:0019280 "ICD10:L68.9" MONDO:0019280 "DOID:420" MONDO:0019280 "Orphanet:79365" MONDO:0019280 "MedDRA:10020864" -MONDO:0019280 "ICD10:L68" MONDO:0000188 "OMIMPS:606777" MONDO:0001134 "OMIM:603918" MONDO:0001134 "NCIT:C3478" @@ -43671,7 +42655,6 @@ MONDO:0001134 "EFO:1002032" MONDO:0001134 "ICD9:401.9" MONDO:0001134 "OMIM:608742" MONDO:0001134 "OMIM:610262" -MONDO:0001134 "ICD10:I10" MONDO:0001134 "OMIM:607329" MONDO:0001134 "OMIM:610948" MONDO:0001134 "SCTID:59621000" @@ -43687,11 +42670,11 @@ MONDO:0001134 "OMIM:611014" MONDO:0007037 "Orphanet:15" MONDO:0007037 "SCTID:86268005" MONDO:0007037 "GARD:0008173" -MONDO:0007037 "ICD10:Q77.4" MONDO:0007037 "MedDRA:10000452" MONDO:0007037 "OMIM:100800" MONDO:0007037 "UMLS:C0001080" MONDO:0007037 "MESH:D000130" +MONDO:0007037 "ICD10CM:Q77.4" MONDO:0007037 "NCIT:C34345" MONDO:0007037 "DOID:4480" MONDO:0021132 "UMLS:C0271858" @@ -43703,16 +42686,16 @@ MONDO:0010414 "MESH:C567469" MONDO:0010414 "UMLS:C2678027" MONDO:0010414 "OMIM:300717" MONDO:0005725 "SCTID:716860005" +MONDO:0005725 "ICD10CM:A07.4" MONDO:0005725 "GARD:0009528" MONDO:0005725 "MESH:D021866" MONDO:0005725 "DOID:12750" MONDO:0005725 "ICD9:007.5" MONDO:0005725 "UMLS:C0343398" -MONDO:0005725 "ICD10:A07.3" MONDO:0005725 "UMLS:C4274225" MONDO:0005725 "NCIT:C128409" +MONDO:0005725 "ICD10CM:A07.3" MONDO:0005725 "EFO:0007230" -MONDO:0005725 "ICD10:A07.4" MONDO:0005725 "Orphanet:210" MONDO:0005725 "SCTID:240372001" MONDO:0017918 "MESH:C536701" @@ -43723,8 +42706,8 @@ MONDO:0004099 "DOID:7079" MONDO:0004099 "NCIT:C9012" MONDO:0004099 "UMLS:C1368888" MONDO:0015666 "Orphanet:1677" -MONDO:0015666 "ICD10:Q20.8" MONDO:0015666 "UMLS:CN200093" +MONDO:0015666 "ICD10CM:Q20.8" MONDO:0015666 "SCTID:716773002" MONDO:0002759 "DOID:3741" MONDO:0002759 "UMLS:C1511208" @@ -43732,7 +42715,7 @@ MONDO:0002759 "NCIT:C39832" MONDO:0018794 "Orphanet:477787" MONDO:0018794 "OMIM:618372" MONDO:0018794 "UMLS:CN776897" -MONDO:0009675 "ICD10:G71.0" +MONDO:0009675 "ICD10CM:G71.0" MONDO:0009675 "GARD:0003845" MONDO:0009675 "DOID:0110275" MONDO:0009675 "Orphanet:267" @@ -43764,7 +42747,6 @@ MONDO:0004966 "ICD9:535.00" MONDO:0004966 "MESH:D005756" MONDO:0004966 "ICD9:535.41" MONDO:0004966 "ICD9:535.01" -MONDO:0004966 "ICD10:K29.7" MONDO:0004966 "UMLS:C2243090" MONDO:0004966 "ICD9:535.4" MONDO:0004966 "ICD9:535.0" @@ -43779,9 +42761,9 @@ MONDO:0014241 "Orphanet:99860" HP:0011362 "UMLS:C4023401" HP:0011362 "UMLS:C4023397" MONDO:0011855 "GARD:0009278" -MONDO:0011855 "ICD10:H18.5" MONDO:0011855 "SCTID:397568004" MONDO:0011855 "DOID:0060444" +MONDO:0011855 "ICD10CM:H18.5" MONDO:0011855 "Orphanet:98963" MONDO:0011855 "UMLS:C1275685" MONDO:0011855 "MESH:C535474" @@ -43798,15 +42780,15 @@ MONDO:0002922 "ICD9:686.00" MONDO:0002922 "MESH:D011711" MONDO:0002922 "ICD9:686.09" MONDO:0002922 "ICD9:686.0" -MONDO:0002922 "ICD10:L08.0" MONDO:0002922 "DOID:4223" +MONDO:0002922 "ICD10CM:L08.0" MONDO:0006307 "NCIT:C45927" MONDO:0006307 "EFO:1000383" MONDO:0006307 "UMLS:C1709052" MONDO:0031169 "OMIMPS:184260" MONDO:0031169 "OMIM:184260" NCBITaxon:52283 "GC_ID:1" -MONDO:0016224 "ICD10:G12.1" +MONDO:0016224 "ICD10CM:G12.1" MONDO:0016224 "UMLS:CN229044" MONDO:0016224 "Orphanet:211037" MONDO:0017782 "Orphanet:313892" @@ -43842,12 +42824,12 @@ MONDO:0008924 "UMLS:C1859315" MONDO:0008924 "OMIM:212400" MONDO:0008924 "Orphanet:1376" MONDO:0012587 "OMIM:610948" -MONDO:0013533 "ICD10:E78.4" MONDO:0013533 "UMLS:C3151466" MONDO:0013533 "GARD:0012864" MONDO:0013533 "OMIM:614025" MONDO:0013533 "SCTID:720940008" MONDO:0013533 "Orphanet:140905" +MONDO:0013533 "ICD10CM:E78.4" MONDO:0014616 "OMIM:616392" MONDO:0006989 "NCIT:C34913" MONDO:0006989 "DOID:2562" @@ -43859,14 +42841,14 @@ MONDO:0007935 "NCIT:C34794" MONDO:0007935 "UMLS:C0024440" MONDO:0007935 "UMLS:C0730317" MONDO:0007935 "SCTID:312921000" +MONDO:0007935 "ICD10CM:H35.5" MONDO:0007935 "DOID:4447" MONDO:0007935 "Orphanet:75381" -MONDO:0007935 "ICD10:H35.5" MONDO:0032928 "OMIM:618806" MONDO:0011185 "UMLS:C1562894" MONDO:0011185 "GARD:0009275" MONDO:0011185 "OMIM:602082" -MONDO:0011185 "ICD10:H18.5" +MONDO:0011185 "ICD10CM:H18.5" MONDO:0011185 "MESH:C535942" MONDO:0011185 "ICD9:371.52" MONDO:0011185 "SCTID:417065002" @@ -43892,8 +42874,8 @@ MONDO:0019600 "GARD:0007910" MONDO:0019600 "MedDRA:10048220" MONDO:0019600 "NCIT:C3452" MONDO:0019600 "OMIM:278720" +MONDO:0019600 "ICD10CM:Q82.1" MONDO:0019600 "OMIM:278740" -MONDO:0019600 "ICD10:Q82.1" MONDO:0019600 "Orphanet:910" MONDO:0019600 "OMIM:610651" MONDO:0019600 "UMLS:C0043346" @@ -43913,7 +42895,6 @@ MONDO:0021388 "SCTID:126640008" MONDO:0021388 "NCIT:C4929" MONDO:0021388 "UMLS:C1290309" MONDO:0021388 "ICD9:239.89" -MONDO:0007593 "OMIM:134300" MONDO:0002460 "DOID:292" MONDO:0002460 "NCIT:C5102" MONDO:0002460 "SCTID:416510003" @@ -43922,25 +42903,26 @@ MONDO:0001690 "ICD9:372.15" MONDO:0001690 "UMLS:C0155148" MONDO:0001690 "SCTID:13816006" MONDO:0001690 "DOID:13341" +MONDO:0007593 "OMIM:134300" MONDO:0004419 "UMLS:C1512739" MONDO:0004419 "NCIT:C39822" MONDO:0004419 "DOID:7972" MONDO:0005977 "EFO:0007505" MONDO:0005977 "UMLS:C0039223" +MONDO:0005977 "ICD10CM:A52.11" MONDO:0005977 "MESH:D013606" MONDO:0005977 "SCTID:316841006" MONDO:0005977 "GARD:0008730" MONDO:0005977 "ICD9:094.0" MONDO:0005977 "DOID:10027" -MONDO:0005977 "ICD10:A52.11" MONDO:0005977 "NCIT:C35057" MONDO:0009107 "MESH:C536170" -MONDO:0009107 "ICD10:Q77.5" MONDO:0009107 "OMIM:222600" MONDO:0009107 "SCTID:58561002" MONDO:0009107 "Orphanet:628" MONDO:0009107 "GARD:0006275" MONDO:0009107 "DOID:14687" +MONDO:0009107 "ICD10CM:Q77.5" MONDO:0009107 "ICD9:756.89" MONDO:0011372 "MESH:C566332" MONDO:0011372 "UMLS:C1863516" @@ -43949,17 +42931,17 @@ MONDO:0012845 "UMLS:C2677079" MONDO:0012845 "OMIM:612278" MONDO:0012845 "MESH:C567372" MONDO:0012845 "DOID:0110890" -MONDO:0015739 "ICD10:G71.2" MONDO:0015739 "UMLS:C0546123" MONDO:0015739 "Orphanet:171442" MONDO:0015739 "GARD:0012824" +MONDO:0015739 "ICD10CM:G71.2" MONDO:0024266 "Orphanet:466729" MONDO:0024266 "OMIM:617039" MONDO:0100083 "OMIM:601399" MONDO:0010416 "UMLS:C2678011" MONDO:0010416 "MESH:C567467" MONDO:0010416 "OMIM:300719" -MONDO:0015516 "ICD10:Q73.8" +MONDO:0015516 "ICD10CM:Q73.8" MONDO:0015516 "Orphanet:1570" MONDO:0005023 "ICD9:233.0" MONDO:0005023 "NCIT:C2924" @@ -43973,30 +42955,28 @@ MONDO:0005023 "DOID:8791" MONDO:0006581 "SCTID:44279002" MONDO:0006581 "DOID:11153" MONDO:0006581 "MESH:D008883" -MONDO:0006581 "ICD10:L74.0" MONDO:0006581 "ICD9:705.1" -MONDO:0006581 "ICD10:L74.2" MONDO:0006581 "EFO:1000735" MONDO:0006581 "UMLS:C0162423" MONDO:0006581 "UMLS:C3241961" MONDO:0019258 "Orphanet:79253" +MONDO:0019258 "ICD10CM:E70.1" MONDO:0019258 "GARD:0010324" -MONDO:0019258 "ICD10:E70.1" MONDO:0037742 "UMLS:C4287868" MONDO:0037742 "NCIT:C8384" CL:1001045 "KUPO:0001077" MONDO:0017214 "Orphanet:28" -MONDO:0017214 "ICD10:E71.1" +MONDO:0017214 "ICD10CM:E71.1" MONDO:0017214 "SCTID:69614003" MONDO:0017214 "OMIM:251110" MONDO:0017214 "OMIM:251100" MONDO:0017214 "GARD:0012623" MONDO:0017214 "OMIM:277410" MONDO:0012062 "UMLS:C1837839" -MONDO:0012062 "ICD10:I42.0" MONDO:0012062 "MESH:C563906" MONDO:0012062 "DOID:0110451" MONDO:0012062 "OMIM:608569" +MONDO:0012062 "ICD10CM:I42.0" MONDO:0001808 "UMLS:C0156370" MONDO:0001808 "SCTID:198315005" MONDO:0001808 "DOID:13811" @@ -44005,24 +42985,23 @@ MONDO:0006128 "NCIT:C5322" MONDO:0006128 "UMLS:C1335476" MONDO:0006128 "EFO:1000156" MONDO:0007202 "GARD:0000912" -MONDO:0007202 "ICD10:Q15.8" MONDO:0007202 "MESH:C536236" MONDO:0007202 "SCTID:717915004" MONDO:0007202 "UMLS:C1862259" MONDO:0007202 "Orphanet:1259" +MONDO:0007202 "ICD10CM:Q15.8" MONDO:0007202 "OMIM:110150" MONDO:0019594 "UMLS:CN227656" MONDO:0019594 "Orphanet:90783" MONDO:0054696 "UMLS:C4539811" MONDO:0054696 "OMIM:617585" MONDO:0020609 "OMIM:110450" +MONDO:0015174 "ICD10CM:K52.8" MONDO:0015174 "UMLS:CN226617" -MONDO:0015174 "ICD10:K52.8" MONDO:0015174 "Orphanet:103917" MONDO:0018397 "Orphanet:399831" MONDO:0018397 "UMLS:CN227343" MONDO:0016120 "Orphanet:206970" -MONDO:0016120 "ICD10:G71.1" MONDO:0016120 "MESH:D020967" MONDO:0016120 "MedDRA:10028658" MONDO:0011857 "UMLS:C1837014" @@ -44036,9 +43015,9 @@ MONDO:0002924 "NCIT:C6511" MONDO:0002924 "DOID:4230" MONDO:0002924 "UMLS:C1334620" MONDO:0018963 "OMIM:250790" -MONDO:0018963 "ICD10:D74.0" MONDO:0018963 "OMIM:250800" MONDO:0018963 "SCTID:267550008" +MONDO:0018963 "ICD10CM:D74.0" MONDO:0018963 "OMIM:250700" MONDO:0018963 "Orphanet:621" MONDO:0018963 "GARD:0002659" @@ -44049,8 +43028,8 @@ CL:1000286 "FMA:17522" MONDO:0001798 "ICD9:728.5" MONDO:0001798 "SCTID:85551004" MONDO:0001798 "UMLS:C0152093" +MONDO:0001798 "ICD10CM:M35.7" MONDO:0001798 "DOID:13781" -MONDO:0001798 "ICD10:M35.7" MONDO:0014219 "GARD:0012404" MONDO:0014219 "Orphanet:869" MONDO:0014219 "UMLS:C3809738" @@ -44073,17 +43052,17 @@ MONDO:0004315 "NCIT:C41617" MONDO:0004315 "DOID:7642" MONDO:0004315 "UMLS:C1516490" MONDO:0015361 "Orphanet:140459" +MONDO:0015361 "ICD10CM:G60.0" MONDO:0015361 "UMLS:CN228928" -MONDO:0015361 "ICD10:G60.0" +MONDO:0017561 "ICD10CM:Q68.2" MONDO:0017561 "Orphanet:295232" -MONDO:0017561 "ICD10:Q68.2" MONDO:0003118 "NCIT:C39953" MONDO:0003118 "UMLS:C1515281" MONDO:0003118 "DOID:4739" MONDO:0009194 "OMIM:226990" MONDO:0009194 "GARD:0009534" MONDO:0009194 "OMIM:614894" -MONDO:0009194 "ICD10:B27.0" +MONDO:0009194 "ICD10CM:B27.0" MONDO:0009194 "Orphanet:2566" MONDO:0002055 "NCIT:C5193" MONDO:0002055 "UMLS:C1332492" @@ -44092,16 +43071,15 @@ MONDO:0019991 "SCTID:73305009" MONDO:0019991 "ICD9:583.9" MONDO:0019991 "GARD:0012048" MONDO:0019991 "NCIT:C96182" -MONDO:0019991 "ICD10:N03.6" +MONDO:0019991 "ICD10CM:N03.6" MONDO:0019991 "Orphanet:97567" -MONDO:0000743 "ICD10:K13.3" +MONDO:0000743 "ICD10CM:K13.3" MONDO:0000743 "NCIT:C3722" MONDO:0000743 "SCTID:414952002" MONDO:0000743 "MESH:D017733" MONDO:0000743 "DOID:0060315" MONDO:0000743 "UMLS:C0206186" MONDO:0000743 "ICD9:528.6" -MONDO:0012437 "ICD10:Q12.0" MONDO:0012437 "OMIM:610202" MONDO:0012437 "Orphanet:98984" MONDO:0012437 "DOID:0110256" @@ -44118,11 +43096,10 @@ MONDO:0005756 "SCTID:18643000" MONDO:0005756 "UMLS:C0015029" MONDO:0005756 "DOID:9507" MONDO:0005756 "MESH:D015521" -MONDO:0005756 "ICD10:J32.2" +MONDO:0005756 "ICD10CM:J32.2" MONDO:0005756 "EFO:0007264" MONDO:0014618 "OMIM:616394" MONDO:0014618 "UMLS:C4225342" -MONDO:0014618 "ICD10:H35.5" MONDO:0014618 "DOID:0110363" MONDO:0004693 "ICDO:8070/2" MONDO:0004693 "NCIT:C27093" @@ -44140,19 +43117,19 @@ MONDO:0000930 "SCTID:254731001" MONDO:0000930 "UMLS:C0334424" MONDO:0000930 "NCIT:C4225" MONDO:0000930 "DOID:10047" +MONDO:0012624 "ICD10CM:E71.3" MONDO:0012624 "SCTID:725046003" MONDO:0012624 "UMLS:C1970173" MONDO:0012624 "MESH:C567006" MONDO:0012624 "OMIM:611126" MONDO:0012624 "Orphanet:99901" -MONDO:0012624 "ICD10:E71.3" MONDO:0019490 "Orphanet:871" MONDO:0019490 "OMIM:113900" +MONDO:0019490 "ICD10CM:I45.8" MONDO:0019490 "SCTID:93130009" MONDO:0019490 "OMIMPS:113900" MONDO:0019490 "OMIM:604559" MONDO:0019490 "DOID:0111073" -MONDO:0019490 "ICD10:I45.8" MONDO:0019490 "OMIM:612838" MONDO:0019490 "SCTID:698249005" MONDO:0019490 "UMLS:CN206278" @@ -44167,7 +43144,7 @@ MONDO:0006872 "UMLS:C0577620" MONDO:0006872 "EFO:1001066" MONDO:0034145 "OMIM:618440" MONDO:0034145 "Orphanet:557003" -MONDO:0018293 "ICD10:E77.8" +MONDO:0018293 "ICD10CM:E77.8" MONDO:0018293 "Orphanet:371200" MONDO:0016981 "Orphanet:263410" MONDO:0016981 "UMLS:CN202284" @@ -44177,7 +43154,7 @@ MONDO:0011406 "OMIM:604183" MONDO:0000110 "OMIM:109740" MONDO:0000110 "OMIM:210400" MONDO:0000110 "GARD:0000884" -MONDO:0000110 "ICD10:Q30.2" +MONDO:0000110 "ICD10CM:Q30.2" MONDO:0000110 "UMLS:CN227089" MONDO:0000110 "Orphanet:2695" MONDO:0000110 "MESH:C535441" @@ -44191,25 +43168,25 @@ MONDO:0006013 "MESH:D016182" MONDO:0006013 "EFO:0007542" MONDO:0018208 "OMIM:162200" MONDO:0018208 "DOID:0111253" -MONDO:0018208 "ICD10:Q85.0" MONDO:0018208 "Orphanet:363700" +MONDO:0018208 "ICD10CM:Q85.0" MONDO:0018208 "UMLS:CN204726" MONDO:0013606 "Orphanet:79430" -MONDO:0013606 "ICD10:E70.3" MONDO:0013606 "Orphanet:280663" MONDO:0013606 "OMIM:614171" +MONDO:0013606 "ICD10CM:E70.3" MONDO:0013606 "DOID:0060547" MONDO:0013606 "UMLS:C3280026" MONDO:0016810 "OMIM:258450" +MONDO:0016810 "ICD10CM:H49.4" MONDO:0016810 "MESH:C564926" MONDO:0016810 "OMIM:617069" -MONDO:0016810 "ICD10:H49.4" MONDO:0016810 "Orphanet:254886" MONDO:0020473 "SCTID:389262009" +MONDO:0020473 "ICD10CM:Q77.3" MONDO:0020473 "Orphanet:99645" MONDO:0020473 "ICD9:756.59" MONDO:0020473 "UMLS:C1300227" -MONDO:0020473 "ICD10:Q77.3" HP:0012718 "UMLS:C4021073" MONDO:0022599 "GARD:0000962" MONDO:0003851 "NCIT:C39996" @@ -44219,7 +43196,6 @@ MONDO:0013052 "MESH:C567854" MONDO:0013052 "UMLS:C2751986" MONDO:0013052 "DOID:0110386" MONDO:0013052 "OMIM:612943" -MONDO:0013052 "ICD10:H35.5" MONDO:0043154 "GARD:0003934" MONDO:0043154 "UMLS:C2931186" MONDO:0043154 "MESH:C536396" @@ -44231,9 +43207,9 @@ MONDO:0019373 "EFO:1000895" MONDO:0019373 "ICDO:8806/3" MONDO:0019373 "Orphanet:83469" MONDO:0019373 "HGNC:12796" +MONDO:0019373 "ICD10CM:C48.2" MONDO:0019373 "GARD:0006265" MONDO:0019373 "MedDRA:10064587" -MONDO:0019373 "ICD10:C48.2" MONDO:0019373 "NCIT:C8300" MONDO:0019373 "ONCOTREE:DSRCT" MONDO:0019373 "MedDRA:10064581" @@ -44255,19 +43231,17 @@ MONDO:0009498 "GARD:0003124" MONDO:0009498 "Orphanet:2347" MONDO:0009498 "UMLS:C1855605" MONDO:0009498 "OMIM:245190" -MONDO:0009498 "ICD10:Q77.8" MONDO:0009498 "MESH:C537208" +MONDO:0009498 "ICD10CM:Q77.8" MONDO:0034216 "Orphanet:566231" MONDO:0012847 "OMIM:612281" MONDO:0012847 "Orphanet:313" MONDO:0012847 "UMLS:C2677065" -MONDO:0012847 "ICD10:Q80.2" MONDO:0012847 "DOID:0060715" MONDO:0012847 "Orphanet:79394" MONDO:0007454 "MESH:C565100" MONDO:0007454 "DOID:0110741" MONDO:0007454 "UMLS:C1852092" -MONDO:0007454 "ICD10:E10" MONDO:0007454 "OMIM:125852" MONDO:0010595 "EFO:1001422" MONDO:0010595 "DOID:0050457" @@ -44280,17 +43254,16 @@ MONDO:0014493 "NCIT:C126341" MONDO:0014493 "UMLS:C4015214" MONDO:0014493 "Orphanet:436159" MONDO:0014493 "OMIM:616100" -MONDO:0014493 "ICD10:D47.9" +MONDO:0014493 "ICD10CM:D47.9" MONDO:0014493 "GARD:0012316" MONDO:0024431 "SCTID:80006005" MONDO:0004285 "DOID:7574" -MONDO:0004285 "ICD10:C25.3" +MONDO:0004285 "ICD10CM:C25.3" MONDO:0004285 "Orphanet:424058" MONDO:0004285 "NCIT:C5725" MONDO:0004285 "UMLS:C1335304" MONDO:0013169 "OMIM:613174" MONDO:0013169 "UMLS:C2750805" -MONDO:0013169 "ICD10:Q92.3" MONDO:0013169 "DOID:0060460" MONDO:0013169 "MESH:C567717" MONDO:0013169 "Orphanet:329802" @@ -44298,27 +43271,27 @@ MONDO:0008790 "MESH:C565952" MONDO:0008790 "OMIM:206400" MONDO:0008790 "UMLS:C1859785" MONDO:0014115 "Orphanet:363412" +MONDO:0014115 "ICD10CM:E75.2" MONDO:0014115 "UMLS:C3809008" -MONDO:0014115 "ICD10:E75.2" MONDO:0014115 "OMIM:615281" MONDO:0004114 "UMLS:C1332564" -MONDO:0004114 "ICD10:C67.6" -MONDO:0004114 "ICD10:C67.8" +MONDO:0004114 "ICD10CM:C67.5" +MONDO:0004114 "ICD10CM:C67.1" MONDO:0004114 "EFO:1000129" -MONDO:0004114 "ICD10:C67.0" +MONDO:0004114 "ICD10CM:C67.9" +MONDO:0004114 "ICD10CM:C67.2" MONDO:0004114 "NCIT:C9461" -MONDO:0004114 "ICD10:C67.7" -MONDO:0004114 "ICD10:C67.9" -MONDO:0004114 "ICD10:C67.2" -MONDO:0004114 "ICD10:C67.4" +MONDO:0004114 "ICD10CM:C67.6" MONDO:0004114 "DOID:7132" +MONDO:0004114 "ICD10CM:C67.0" MONDO:0004114 "GARD:0011923" MONDO:0004114 "ONCOTREE:SCBC" -MONDO:0004114 "ICD10:C67.1" +MONDO:0004114 "ICD10CM:C67.3" +MONDO:0004114 "ICD10CM:C67.4" MONDO:0004114 "UMLS:CN202866" +MONDO:0004114 "ICD10CM:C67.7" MONDO:0004114 "Orphanet:284400" -MONDO:0004114 "ICD10:C67.3" -MONDO:0004114 "ICD10:C67.5" +MONDO:0004114 "ICD10CM:C67.8" HP:0000492 "UMLS:C4021803" MONDO:0003088 "DOID:468" MONDO:0003088 "MESH:D006391" @@ -44329,8 +43302,8 @@ HP:0000407 "MSH:D006319" HP:0000407 "SNOMEDCT_US:60700002" HP:0000407 "UMLS:C0018784" MONDO:0013427 "UMLS:C3151088" +MONDO:0013427 "ICD10CM:D84.8" MONDO:0013427 "Orphanet:391311" -MONDO:0013427 "ICD10:D84.8" MONDO:0013427 "OMIM:613796" MONDO:0019709 "Orphanet:93451" NCBITaxon:6934 "GC_ID:1" @@ -44340,23 +43313,23 @@ NCBITaxon:2509487 "GC_ID:1" MONDO:0032792 "OMIM:618511" MONDO:0015035 "UMLS:C4274993" MONDO:0015035 "Orphanet:100012" -MONDO:0015035 "ICD10:Q04.3" +MONDO:0015035 "ICD10CM:Q04.3" MONDO:0015035 "UMLS:CN228901" MONDO:0015035 "SCTID:715819005" HP:0012614 "SNOMEDCT_US:310439007" HP:0012614 "UMLS:C0587955" MONDO:0007820 "SCTID:707796002" MONDO:0007820 "GARD:0002419" -MONDO:0007820 "ICD10:K00.2" MONDO:0007820 "UMLS:CN201433" MONDO:0007820 "OMIM:147251" MONDO:0007820 "Orphanet:2287" +MONDO:0007820 "ICD10CM:K00.2" MONDO:0013356 "Orphanet:289365" MONDO:0013356 "OMIM:613674" MONDO:0013356 "UMLS:C3150927" MONDO:0007866 "ICD9:759.89" +MONDO:0007866 "ICD10CM:Q82.8" MONDO:0007866 "Orphanet:2698" -MONDO:0007866 "ICD10:Q82.8" MONDO:0007866 "GARD:0003125" MONDO:0007866 "OMIM:149200" MONDO:0007866 "DOID:0050658" @@ -44367,10 +43340,10 @@ MONDO:0001104 "ICD9:242.00" MONDO:0001104 "DOID:10719" CL:0000065 "FMA:70550" CL:0000065 "BTO:0001724" +MONDO:0015339 "ICD10CM:E71.3" MONDO:0015339 "Orphanet:139399" MONDO:0015339 "OMIM:300100" MONDO:0015339 "UMLS:C1527231" -MONDO:0015339 "ICD10:E71.3" MONDO:0015339 "GARD:0010614" MONDO:0015339 "SCTID:65389002" MONDO:0021102 "UMLS:C1335409" @@ -44378,29 +43351,29 @@ MONDO:0021102 "Orphanet:498228" MONDO:0021102 "GARD:0009404" MONDO:0021102 "NCIT:C7574" MONDO:0016413 "Orphanet:226313" -MONDO:0016413 "ICD10:P72.2" +MONDO:0016413 "ICD10CM:P72.2" MONDO:0012439 "Orphanet:261629" MONDO:0012439 "OMIM:610205" MONDO:0012439 "Orphanet:52" +MONDO:0012439 "ICD10CM:Q44.7" MONDO:0012439 "UMLS:C1857761" -MONDO:0012439 "ICD10:Q44.7" MONDO:0007046 "DOID:0060360" MONDO:0007046 "MESH:C566323" MONDO:0007046 "OMIM:101840" MONDO:0007046 "EFO:1000708" MONDO:0007046 "UMLS:C1863343" MONDO:0010187 "OMIM:277450" -MONDO:0010187 "ICD10:D68.2" MONDO:0010187 "OMIM:607473" MONDO:0010187 "SCTID:724356003" MONDO:0010187 "Orphanet:98434" MONDO:0010187 "UMLS:C1848534" MONDO:0010187 "MESH:C564741" +MONDO:0010187 "ICD10CM:D68.2" MONDO:0011398 "UMLS:C1275114" +MONDO:0011398 "ICD10CM:Q81.2" MONDO:0011398 "Orphanet:89843" MONDO:0011398 "ICD9:757.39" MONDO:0011398 "MESH:C563192" -MONDO:0011398 "ICD10:Q81.2" MONDO:0011398 "SCTID:403810008" MONDO:0011398 "OMIM:604129" MONDO:0014797 "UMLS:C4225184" @@ -44409,7 +43382,7 @@ MONDO:0014797 "EFO:0009153" MONDO:0012216 "OMIM:609218" MONDO:0012216 "Orphanet:397618" MONDO:0012216 "MESH:C563774" -MONDO:0012216 "ICD10:Q15.8" +MONDO:0012216 "ICD10CM:Q15.8" MONDO:0015675 "SCTID:26089000" MONDO:0015675 "Orphanet:1685" MONDO:0015675 "ICD9:121.8" @@ -44421,14 +43394,13 @@ MONDO:0002545 "DOID:319" MONDO:0002545 "ICD9:336.8" MONDO:0002545 "NCIT:C97110" MONDO:0002545 "SCTID:48522003" -MONDO:0002545 "ICD10:G95.9" MONDO:0002545 "MESH:D013118" MONDO:0016600 "UMLS:CN201793" -MONDO:0016600 "ICD10:E72.2" +MONDO:0016600 "ICD10CM:E72.2" MONDO:0016600 "Orphanet:247546" MONDO:0007233 "Orphanet:141022" -MONDO:0007233 "ICD10:Q18.0" MONDO:0007233 "NCIT:C104813" +MONDO:0007233 "ICD10CM:Q18.0" MONDO:0007233 "OMIM:113600" MONDO:0007233 "SCTID:73381000119100" MONDO:0018800 "OMIM:308700" @@ -44454,9 +43426,9 @@ MONDO:0018800 "SCTID:93559003" MONDO:0018800 "OMIM:615271" MONDO:0018800 "ICD9:253.4" MONDO:0018800 "OMIM:614840" +MONDO:0018800 "ICD10CM:E23.0" MONDO:0018800 "NCIT:C75479" MONDO:0018800 "OMIM:615266" -MONDO:0018800 "ICD10:E23.0" MONDO:0018800 "OMIM:615269" MONDO:0018800 "OMIM:614880" MONDO:0018800 "OMIM:244200" @@ -44464,18 +43436,17 @@ MONDO:0010258 "OMIM:300987" MONDO:0010258 "SCTID:722037004" MONDO:0010258 "MESH:C537451" MONDO:0010258 "DOID:0060801" -MONDO:0010258 "ICD10:Q87.8" MONDO:0010258 "UMLS:C4310813" MONDO:0010258 "UMLS:C1846278" +MONDO:0010258 "ICD10CM:Q87.8" MONDO:0010258 "OMIM:300148" MONDO:0010258 "GARD:0009178" MONDO:0010258 "Orphanet:85282" MONDO:0005921 "SCTID:27052006" -MONDO:0005921 "ICD10:B51.9" MONDO:0005921 "MESH:D016780" MONDO:0005921 "ICD9:084.1" MONDO:0005921 "UMLS:C0024537" -MONDO:0005921 "ICD10:B51" +MONDO:0005921 "ICD10CM:B51" MONDO:0005921 "NCIT:C34800" MONDO:0005921 "DOID:12978" MONDO:0005921 "EFO:0007445" @@ -44487,11 +43458,11 @@ MONDO:0019796 "MedDRA:10000590" MONDO:0019796 "OMIM:101200" MONDO:0019796 "OMIM:101120" MONDO:0019796 "SCTID:268262006" -MONDO:0019796 "ICD10:Q87.0" MONDO:0019796 "ICD9:755.55" MONDO:0019796 "DOID:12960" MONDO:0019796 "MESH:D000168" MONDO:0019796 "OMIM:101400" +MONDO:0019796 "ICD10CM:Q87.0" MONDO:0019796 "NCIT:C34348" HP:0100658 "MSH:D002481" HP:0100658 "SNOMEDCT_US:128936008" @@ -44502,15 +43473,15 @@ HP:0100658 "MSH:D017192" HP:0100658 "SNOMEDCT_US:128045006" MONDO:0043004 "MESH:D014895" MONDO:0043004 "SCTID:398067003" -MONDO:0018599 "ICD10:Q07.8" +MONDO:0018599 "ICD10CM:Q07.8" MONDO:0018599 "Orphanet:440221" MONDO:0008393 "NCIT:C153290" +MONDO:0008393 "ICD10CM:Q87.2" MONDO:0008393 "Orphanet:353277" MONDO:0008393 "UMLS:C0035934" -MONDO:0008393 "ICD10:Q87.2" MONDO:0008393 "Orphanet:783" MONDO:0008393 "OMIM:180849" -MONDO:0010668 "ICD10:Q87.5" +MONDO:0010668 "ICD10CM:Q87.5" MONDO:0010668 "OMIM:309620" MONDO:0010668 "MESH:C564101" MONDO:0010668 "Orphanet:1436" @@ -44527,10 +43498,10 @@ MONDO:0017384 "Orphanet:293173" MONDO:0021531 "UMLS:C1334444" MONDO:0021531 "NCIT:C5658" MONDO:0021531 "SCTID:707387004" +MONDO:0005275 "ICD10CM:J60-J70" MONDO:0005275 "DOID:850" MONDO:0005275 "ICD9:518.89" MONDO:0005275 "MESH:D008171" -MONDO:0005275 "ICD10:J98.4" MONDO:0005275 "SCTID:19829001" MONDO:0005275 "NCIT:C3198" MONDO:0005275 "EFO:0003818" @@ -44547,20 +43518,18 @@ MONDO:0020334 "DOID:9254" MONDO:0020334 "SCTID:110002002" MONDO:0020334 "Orphanet:158799" MONDO:0020334 "MedDRA:10056450" -MONDO:0020334 "ICD10:C94.3" MONDO:0020334 "MESH:D007946" -MONDO:0020334 "ICD10:C94.30" MONDO:0020334 "ONCOTREE:SMMCL" MONDO:0020334 "Orphanet:98851" +MONDO:0020334 "ICD10CM:C94.3" MONDO:0020334 "ICDO:9742/3" MONDO:0020334 "NCIT:C3169" MONDO:0001512 "UMLS:C0155270" MONDO:0001512 "DOID:12363" MONDO:0001512 "SCTID:49774006" MONDO:0001512 "ICD9:376.34" -MONDO:0001512 "ICD10:H05.25" -MONDO:0020510 "ICD10:G95.0" MONDO:0020510 "SCTID:725001004" +MONDO:0020510 "ICD10CM:G95.0" MONDO:0020510 "UMLS:C4511700" MONDO:0020510 "Orphanet:99858" MONDO:0003712 "UMLS:C0263640" @@ -44571,8 +43540,8 @@ MONDO:0045051 "SCTID:193576003" MONDO:0045051 "ICD9:366.03" MONDO:0019983 "Orphanet:97366" MONDO:0019983 "SCTID:86463003" -MONDO:0016029 "ICD10:C30.0" MONDO:0016029 "SCTID:422886007" +MONDO:0016029 "ICD10CM:C30.0" MONDO:0016029 "GARD:0002197" MONDO:0016029 "Orphanet:1957" MONDO:0000774 "DOID:0060499" @@ -44585,11 +43554,11 @@ MONDO:0008580 "OMIM:189230" MONDO:0019405 "SCTID:723306004" MONDO:0019405 "GARD:0012036" MONDO:0019405 "UMLS:CN206118" -MONDO:0019405 "ICD10:G60.0" MONDO:0019405 "Orphanet:85162" +MONDO:0019405 "ICD10CM:G60.0" MONDO:0014272 "UMLS:C3810072" MONDO:0014272 "OMIM:615598" -MONDO:0014272 "ICD10:Q82.8" +MONDO:0014272 "ICD10CM:Q82.8" MONDO:0014272 "Orphanet:140966" MONDO:0014272 "SCTID:722205008" MONDO:0010760 "OMIM:314800" @@ -44608,7 +43577,6 @@ MONDO:0001495 "UMLS:C1456400" MONDO:0001495 "SCTID:66259004" MONDO:0001495 "UMLS:C0018931" MONDO:0002441 "UMLS:C0022387" -MONDO:0002441 "ICD10:I45.8" MONDO:0002441 "DOID:2842" MONDO:0002441 "OMIM:612347" MONDO:0002441 "OMIM:220400" @@ -44618,20 +43586,20 @@ MONDO:0002441 "Orphanet:90647" MONDO:0002441 "OMIMPS:220400" MONDO:0002441 "NCIT:C84793" MONDO:0002441 "MedDRA:10057936" +MONDO:0002441 "ICD10CM:I45.8" MONDO:0002441 "SCTID:373905003" MONDO:0002441 "Orphanet:768" MONDO:0023693 "GARD:0008596" MONDO:0023693 "HGNC:2698" MONDO:0016216 "DOID:0070328" +MONDO:0016216 "ICD10CM:C22.0" MONDO:0016216 "Orphanet:210159" -MONDO:0016216 "ICD10:C22.0" MONDO:0016216 "UMLS:CN200978" MONDO:0016216 "UMLS:C0279607" MONDO:0016216 "NCIT:C7956" MONDO:0013429 "UMLS:C3151107" MONDO:0013429 "OMIM:613801" MONDO:0013429 "DOID:0110375" -MONDO:0013429 "ICD10:H35.5" MONDO:0008036 "UMLS:C1834635" MONDO:0008036 "MESH:C563552" MONDO:0008036 "Orphanet:589" @@ -44652,8 +43620,8 @@ MONDO:0013206 "UMLS:C2750448" MONDO:0012490 "UMLS:C1864877" MONDO:0012490 "OMIM:610427" MONDO:0012490 "Orphanet:215" -MONDO:0016665 "ICD10:M31.8" MONDO:0016665 "Orphanet:251328" +MONDO:0016665 "ICD10CM:M31.8" MONDO:0003882 "DOID:6451" MONDO:0003882 "UMLS:C1332879" MONDO:0003882 "NCIT:C5465" @@ -44676,27 +43644,26 @@ MONDO:0037807 "UMLS:C0342762" NCBITaxon:85512 "GC_ID:1" MONDO:0019399 "Orphanet:84142" MONDO:0019399 "SCTID:305719002" -MONDO:0019399 "ICD10:G71.1" MONDO:0019399 "UMLS:CN206101" +MONDO:0019399 "ICD10CM:G71.1" MONDO:0019399 "GARD:0006793" MONDO:0019399 "UMLS:C0751919" HP:0011017 "UMLS:C4023595" MONDO:0019575 "OMIM:146520" +MONDO:0019575 "ICD10CM:L65.8" MONDO:0019575 "OMIM:613981" MONDO:0019575 "Orphanet:90368" -MONDO:0019575 "ICD10:L65.8" MONDO:0019575 "SCTID:717256009" MONDO:0019228 "DOID:9265" -MONDO:0019228 "ICD10:E70.40" -MONDO:0019228 "ICD10:E70.4" +MONDO:0019228 "ICD10CM:E70.40" MONDO:0019228 "Orphanet:79181" -MONDO:0019228 "ICD10:E70.8" MONDO:0019228 "ICD9:270.5" +MONDO:0019228 "ICD10CM:E70.8" NCBITaxon:777 "GC_ID:11" NCBITaxon:777 "PMID:9226923" MONDO:0020512 "Orphanet:99861" -MONDO:0020512 "ICD10:C91.0" -MONDO:0008196 "ICD10:Q87.1" +MONDO:0020512 "ICD10CM:C91.0" +MONDO:0008196 "ICD10CM:Q87.1" MONDO:0008196 "OMIM:168400" MONDO:0008196 "GARD:0004222" MONDO:0008196 "SCTID:722210007" @@ -44704,37 +43671,35 @@ MONDO:0008196 "MESH:C537172" MONDO:0008196 "Orphanet:2646" MONDO:0008196 "DOID:0111539" MONDO:0009383 "OMIM:237900" -MONDO:0009383 "ICD10:P59.8" MONDO:0009383 "GARD:0003304" MONDO:0009383 "Orphanet:2312" +MONDO:0009383 "ICD10CM:P59.8" MONDO:0009383 "UMLS:C0270210" MONDO:0009383 "GARD:0002791" MONDO:0009383 "MESH:C562692" MONDO:0021310 "NCIT:C4940" MONDO:0021310 "UMLS:C0746787" MONDO:0021310 "SCTID:363489000" -MONDO:0020113 "ICD10:D60.9" MONDO:0020113 "Orphanet:98421" +MONDO:0020113 "ICD10CM:D60.9" MONDO:0020113 "MedDRA:10038184" -MONDO:0020113 "ICD10:D60.0" -MONDO:0020113 "ICD10:D60.8" -MONDO:0020113 "ICD10:D60.1" +MONDO:0020113 "ICD10CM:D60.1" +MONDO:0020113 "ICD10CM:D60.0" +MONDO:0020113 "ICD10CM:D60.8" MONDO:0010857 "OMIM:600274" -MONDO:0010857 "ICD10:G31.0" MONDO:0010857 "GARD:0010792" MONDO:0010857 "Orphanet:100069" MONDO:0010857 "UMLS:C0338451" +MONDO:0010857 "ICD10CM:G31.0" MONDO:0010857 "Orphanet:282" MONDO:0044797 "UMLS:C0346098" MONDO:0044797 "NCIT:C4497" -MONDO:0001768 "ICD10:H04.54" MONDO:0001768 "DOID:13654" MONDO:0001768 "SCTID:81345003" -MONDO:0001768 "ICD10:H04.549" MONDO:0001768 "ICD9:375.53" +MONDO:0031332 "ICD10CM:D69.1" MONDO:0031332 "OMIM:273800" MONDO:0031332 "DOID:2219" -MONDO:0031332 "ICD10:D69.1" MONDO:0031332 "SCTID:32942005" MONDO:0031332 "MESH:D013915" MONDO:0031332 "Orphanet:849" @@ -44754,7 +43719,7 @@ MONDO:0008243 "Orphanet:282" MONDO:0008243 "NCIT:C85008" MONDO:0008243 "EFO:0003096" MONDO:0008243 "OMIM:172700" -MONDO:0008243 "ICD10:G31.01" +MONDO:0008243 "ICD10CM:G31.01" MONDO:0008243 "UMLS:C0236642" MONDO:0008243 "MESH:D020774" MONDO:0008243 "ICD9:331.11" @@ -44773,13 +43738,13 @@ HP:0002617 "SNOMEDCT_US:85659009" HP:0002617 "UMLS:C0002940" HP:0002617 "SNOMEDCT_US:432119003" HP:0002617 "MSH:D000783" -MONDO:0020096 "ICD10:Q82.8" MONDO:0020096 "Orphanet:98356" MONDO:0020096 "UMLS:CN229269" +MONDO:0020096 "ICD10CM:Q82.8" FOODON:03309823 "SUBSET_SIREN:F9823" MONDO:0019657 "Orphanet:93221" -MONDO:0019657 "ICD10:N04.0" MONDO:0019657 "UMLS:CN206530" +MONDO:0019657 "ICD10CM:N04.0" MONDO:0012492 "GARD:0010270" MONDO:0012492 "OMIM:610438" HP:0003366 "UMLS:C4025622" @@ -44797,11 +43762,11 @@ MONDO:0009645 "OMIM:252250" MONDO:0003010 "SCTID:254916002" MONDO:0003010 "Orphanet:319287" MONDO:0003010 "NCIT:C4524" -MONDO:0003010 "ICD10:C64" MONDO:0003010 "DOID:4463" MONDO:0003010 "ICDO:8316/3" MONDO:0003010 "UMLS:C0346249" MONDO:0003010 "ICD9:189.0" +MONDO:0003010 "ICD10CM:C64" MONDO:0008430 "MESH:C566687" MONDO:0008430 "UMLS:C1866939" MONDO:0008430 "OMIM:182255" @@ -44809,12 +43774,12 @@ MONDO:0005440 "EFO:0004986" MONDO:0005440 "GARD:0005140" MONDO:0005440 "ICDO:9070/3" MONDO:0005440 "NCIT:C3752" +MONDO:0005440 "ICD10CM:C71.9" +MONDO:0005440 "ICD10CM:C22.7" MONDO:0005440 "ONCOTREE:EMBCA" MONDO:0005440 "MESH:D018236" MONDO:0005440 "UMLS:C0206659" MONDO:0005440 "DOID:3308" -MONDO:0005440 "ICD10:C71.9" -MONDO:0005440 "ICD10:C22.7" MONDO:0005440 "Orphanet:180226" MONDO:0014671 "UMLS:C4225302" MONDO:0014671 "OMIM:616505" @@ -44824,12 +43789,12 @@ MONDO:0012093 "UMLS:C1837595" MONDO:0012093 "MESH:C563883" MONDO:0012093 "OMIM:608656" MONDO:0017659 "Orphanet:306776" -MONDO:0017659 "ICD10:G25.8" +MONDO:0017659 "ICD10CM:G25.8" MONDO:0010610 "GARD:0003788" MONDO:0010610 "SCTID:716169009" MONDO:0010610 "Orphanet:2570" MONDO:0010610 "OMIM:306990" -MONDO:0010610 "ICD10:Q04.2" +MONDO:0010610 "ICD10CM:Q04.2" MONDO:0010610 "MESH:C564409" CL:0002253 "BTO:0004297" CL:0002253 "FMA:256157" @@ -44855,8 +43820,8 @@ MONDO:0011027 "MESH:C563359" MONDO:0011027 "UMLS:C1832544" MONDO:0017189 "SCTID:717044000" MONDO:0017189 "UMLS:C4274082" +MONDO:0017189 "ICD10CM:E16.1" MONDO:0017189 "Orphanet:276608" -MONDO:0017189 "ICD10:E16.1" MONDO:0012101 "MESH:C563874" MONDO:0012101 "Orphanet:98977" MONDO:0012101 "OMIM:608695" @@ -44864,14 +43829,14 @@ MONDO:0012101 "UMLS:C1837528" MONDO:0015877 "Orphanet:180766" MONDO:0015877 "UMLS:CN200485" MONDO:0017846 "UMLS:CN229111" +MONDO:0017846 "ICD10CM:G11.4" MONDO:0017846 "Orphanet:316235" -MONDO:0017846 "ICD10:G11.4" +MONDO:0009012 "ICD10CM:Q87.8" MONDO:0009012 "GARD:0003361" MONDO:0009012 "Orphanet:2215" MONDO:0009012 "MESH:C565679" MONDO:0009012 "OMIM:217150" MONDO:0009012 "UMLS:C1857576" -MONDO:0009012 "ICD10:Q87.8" MONDO:0023472 "GARD:0001299" MONDO:0001356 "ICD9:280.8" MONDO:0001356 "UMLS:C0162316" @@ -44880,13 +43845,13 @@ MONDO:0001356 "MESH:D018798" MONDO:0001356 "DOID:11758" MONDO:0001356 "SCTID:87522002" MONDO:0001356 "ICD9:280.9" -MONDO:0007259 "ICD10:Q87.0" MONDO:0007259 "Orphanet:363705" +MONDO:0007259 "ICD10CM:Q87.0" MONDO:0007259 "OMIM:114620" MONDO:0007259 "SCTID:763320005" MONDO:0007259 "UMLS:C2676032" MONDO:0007259 "MESH:C567298" -MONDO:0015478 "ICD10:Q18.8" +MONDO:0015478 "ICD10CM:Q18.8" MONDO:0015478 "Orphanet:155867" MONDO:0016929 "SCTID:726347008" MONDO:0016929 "Orphanet:262638" @@ -44896,8 +43861,8 @@ MONDO:0011342 "Orphanet:238459" MONDO:0011342 "GARD:0012409" MONDO:0011342 "OMIM:603585" MONDO:0011342 "SCTID:723624008" +MONDO:0011342 "ICD10CM:E77.8" MONDO:0011342 "MESH:C567040" -MONDO:0011342 "ICD10:E77.8" MONDO:0011342 "UMLS:C1970344" MONDO:0013542 "Orphanet:2573" MONDO:0013542 "OMIM:614042" @@ -44919,26 +43884,25 @@ MONDO:0012783 "DOID:0080566" MONDO:0012783 "SCTID:733084000" MONDO:0012783 "MESH:C567437" MONDO:0012783 "UMLS:C2677590" -MONDO:0012783 "ICD10:E77.8" +MONDO:0012783 "ICD10CM:E77.8" MONDO:0012783 "GARD:0012394" MONDO:0012783 "Orphanet:244310" MONDO:0010707 "MESH:C538101" MONDO:0010707 "UMLS:C1412041" MONDO:0010707 "GARD:0009780" MONDO:0010707 "OMIM:311400" -MONDO:0019436 "ICD10:M09.0*" MONDO:0019436 "NCIT:C114361" -MONDO:0019436 "ICD10:L40.5+" MONDO:0019436 "Orphanet:85436" MONDO:0019436 "SCTID:239802003" +MONDO:0019436 "ICD10EXP:L40.5+" MONDO:0019436 "GARD:0010970" +MONDO:0019436 "ICD10EXP:M09.0*" MONDO:0014124 "OMIM:615297" MONDO:0014124 "UMLS:C3809092" MONDO:0014124 "Orphanet:974" MONDO:0018239 "UMLS:CN227289" MONDO:0018239 "Orphanet:364817" MONDO:0004732 "UMLS:C0686172" -MONDO:0004732 "ICD10:D09.1" MONDO:0004732 "SCTID:92624000" MONDO:0004732 "ICD9:233.9" MONDO:0004732 "DOID:9234" @@ -44957,13 +43921,13 @@ MONDO:0100218 "OMIM:618947" NCBITaxon:6943 "GC_ID:1" MONDO:0020701 "OMIM:112500" MONDO:0018649 "NCIT:C35275" -MONDO:0018649 "ICD10:H47.6" MONDO:0018649 "UMLS:C0234398" MONDO:0018649 "SCTID:413924001" +MONDO:0018649 "ICD10CM:H47.6" MONDO:0018649 "UMLS:CN237707" MONDO:0018649 "Orphanet:447788" MONDO:0011771 "OMIM:607088" -MONDO:0011771 "ICD10:G12.2" +MONDO:0011771 "ICD10CM:G12.2" MONDO:0011771 "Orphanet:139547" MONDO:0011771 "MESH:C564626" MONDO:0011771 "UMLS:C1846823" @@ -44973,28 +43937,27 @@ MONDO:0032762 "DOID:0111643" MONDO:0014935 "UMLS:C4310697" MONDO:0014935 "DOID:0111787" MONDO:0014935 "OMIM:617137" +MONDO:0019094 "ICD10CM:P35.8" MONDO:0019094 "UMLS:C4274357" MONDO:0019094 "Orphanet:70596" MONDO:0019094 "SCTID:716660007" -MONDO:0019094 "ICD10:P35.8" MONDO:0023021 "GARD:0001986" FOODON:03420177 "http://www.langual.org/langual_thesaurus.asp?termid=C0177" MONDO:0013365 "OMIM:613685" -MONDO:0013365 "ICD10:H90.3" MONDO:0013365 "DOID:0110528" MONDO:0003245 "DOID:5022" MONDO:0003245 "NCIT:C27922" MONDO:0003245 "UMLS:C1332222" MONDO:0014311 "DOID:0080057" MONDO:0014311 "UMLS:C3810326" +MONDO:0014311 "ICD10CM:G11.1" MONDO:0014311 "OMIM:615705" -MONDO:0014311 "ICD10:G11.1" MONDO:0014311 "Orphanet:404499" +NCBITaxon:12091 "GC_ID:1" HP:0008056 "UMLS:C4024745" -MONDO:0017531 "ICD10:Q69.0" MONDO:0017531 "Orphanet:295163" MONDO:0017531 "UMLS:CN203262" -NCBITaxon:12091 "GC_ID:1" +MONDO:0017531 "ICD10CM:Q69.0" MONDO:0006621 "NCIT:C40291" MONDO:0006621 "DOID:6943" MONDO:0006621 "UMLS:C1520084" @@ -45002,30 +43965,27 @@ MONDO:0006621 "EFO:1000778" MONDO:0045053 "NCIT:C6603" MONDO:0020317 "Orphanet:98831" MONDO:0020317 "NCIT:C82403" -MONDO:0020317 "ICD10:C92.6" MONDO:0020317 "ICDO:9897/3" MONDO:0020317 "SCTID:444911000" +MONDO:0017509 "ICD10CM:Q72.8" MONDO:0017509 "Orphanet:295116" -MONDO:0017509 "ICD10:Q72.8" -MONDO:0004277 "ICD9:098.32" +MONDO:0004277 "GARD:0006499" MONDO:0004277 "ICD9:098" -MONDO:0004277 "Orphanet:100642" -MONDO:0004277 "ICD10:A54.9" -MONDO:0004277 "DOID:7551" -MONDO:0004277 "MESH:D006069" -MONDO:0004277 "ICD10:A54" -MONDO:0004277 "NCIT:C92950" MONDO:0004277 "SCTID:15628003" +MONDO:0004277 "ICD9:098.32" +MONDO:0004277 "NCIT:C92950" MONDO:0004277 "UMLS:C0018081" -MONDO:0004277 "GARD:0006499" +MONDO:0004277 "MESH:D006069" MONDO:0004277 "ICD9:098.2" MONDO:0004277 "ICD9:098.89" +MONDO:0004277 "DOID:7551" +MONDO:0004277 "Orphanet:100642" MONDO:0024462 "OMIMPS:155600" MONDO:0016772 "Orphanet:254424" MONDO:0016772 "GARD:0012674" +MONDO:0016772 "ICD10CM:L43.8" MONDO:0016772 "UMLS:C0406363" MONDO:0016772 "SCTID:201000006" -MONDO:0016772 "ICD10:L43.8" MONDO:0018972 "Orphanet:63443" MONDO:0018972 "UMLS:CN235187" MONDO:0009506 "OMIM:617475" @@ -45035,8 +43995,8 @@ MONDO:0009506 "OMIMPS:245480" MONDO:0009506 "MESH:C562873" MONDO:0009506 "GARD:0010778" MONDO:0009506 "Orphanet:169142" -MONDO:0009506 "ICD10:D71" MONDO:0009506 "OMIM:245480" +MONDO:0009506 "ICD10CM:D71" MONDO:0008736 "UMLS:C0282525" MONDO:0008736 "Orphanet:44" MONDO:0008736 "UMLS:C3550234" @@ -45050,7 +44010,7 @@ MONDO:0017919 "UMLS:C1850321" MONDO:0017919 "GARD:0002207" MONDO:0017919 "Orphanet:322" MONDO:0017919 "OMIM:258040" -MONDO:0017919 "ICD10:Q64.1" +MONDO:0017919 "ICD10CM:Q64.1" HP:0009887 "UMLS:C4024172" MONDO:0015667 "OMIM:601626" MONDO:0015667 "NCIT:C27753" @@ -45061,11 +44021,10 @@ MONDO:0024529 "OMIM:157700" MONDO:0024529 "GARD:0003688" MONDO:0024529 "UMLS:CN074267" MONDO:0014532 "UMLS:C4015513" -MONDO:0014532 "ICD10:G71.3" +MONDO:0014532 "ICD10CM:G71.3" MONDO:0014532 "OMIM:616209" MONDO:0014532 "Orphanet:457050" MONDO:0018113 "Orphanet:35098" -MONDO:0018113 "ICD10:Q67.3" MONDO:0018113 "OMIM:615314" MONDO:0018113 "OMIM:123100" MONDO:0018113 "OMIM:616602" @@ -45076,9 +44035,9 @@ MONDO:0004324 "NCIT:C39951" MONDO:0004324 "UMLS:C1515282" MONDO:0004324 "DOID:7675" MONDO:0021512 "SCTID:92437008" -MONDO:0021512 "ICD10:D15.0" MONDO:0021512 "UMLS:C0345975" MONDO:0021512 "NCIT:C4458" +MONDO:0021512 "ICD10CM:D15.0" MONDO:0021512 "ICD9:212.6" NCBITaxon:11079 "GC_ID:1" HP:0000096 "SNOMEDCT_US:82646005" @@ -45090,22 +44049,22 @@ MONDO:0008235 "UMLS:C1868392" MONDO:0008235 "OMIM:171420" MONDO:0008235 "MESH:C566807" MONDO:0008235 "GARD:0004321" +MONDO:0017354 "ICD10CM:E72.5" MONDO:0017354 "Orphanet:289860" -MONDO:0017354 "ICD10:E72.5" MONDO:0015738 "Orphanet:171439" MONDO:0015738 "OMIM:609285" MONDO:0015738 "GARD:0007171" MONDO:0015738 "OMIM:161800" -MONDO:0015738 "ICD10:G71.2" MONDO:0015738 "OMIM:615731" MONDO:0015738 "OMIM:609273" MONDO:0015738 "OMIM:256030" +MONDO:0015738 "ICD10CM:G71.2" MONDO:0015738 "OMIM:609284" -MONDO:0001135 "ICD10:F65.3" MONDO:0001135 "MESH:D014843" MONDO:0001135 "ICD9:302.82" MONDO:0001135 "NCIT:C94360" MONDO:0001135 "DOID:10834" +MONDO:0001135 "ICD10CM:F65.3" MONDO:0001135 "SCTID:63835008" MONDO:0007038 "OMIM:100820" MONDO:0007038 "MESH:C535300" @@ -45123,7 +44082,6 @@ MONDO:0009468 "EFO:1001132" MONDO:0009468 "ICD9:348.2" MONDO:0009468 "GARD:0004561" MONDO:0009468 "UMLS:C0033845" -MONDO:0009468 "ICD10:G93.2" MONDO:0009468 "DOID:11459" MONDO:0009468 "Orphanet:238624" MONDO:0009468 "SCTID:68267002" @@ -45131,21 +44089,19 @@ MONDO:0004511 "DOID:8239" MONDO:0004511 "UMLS:C1334434" MONDO:0004511 "NCIT:C5288" MONDO:0022953 "GARD:0001798" -MONDO:0001521 "ICD10:F63.81" MONDO:0001521 "NCIT:C94332" MONDO:0001521 "DOID:12401" -MONDO:0001521 "ICD10:F60.3" +MONDO:0001521 "ICD10CM:F63.81" MONDO:0001521 "ICD9:301.3" MONDO:0001521 "SCTID:231527003" MONDO:0001521 "ICD9:312.34" -MONDO:0007424 "ICD10:H90.3" MONDO:0007424 "DOID:0110541" MONDO:0007424 "OMIM:124900" MONDO:0007424 "UMLS:C1852282" MONDO:0007424 "MESH:C565121" MONDO:0014077 "UMLS:C3554657" +MONDO:0014077 "ICD10CM:Q04.3" MONDO:0014077 "Orphanet:352682" -MONDO:0014077 "ICD10:Q04.3" MONDO:0014077 "OMIM:615191" NCBITaxon:314145 "PMID:12878460" NCBITaxon:314145 "GC_ID:1" @@ -45161,7 +44117,6 @@ MONDO:0016342 "OMIM:610193" MONDO:0016342 "OMIM:604401" MONDO:0016342 "Orphanet:217656" MONDO:0016342 "UMLS:C4274968" -MONDO:0016342 "ICD10:I42.8" MONDO:0016342 "OMIM:615616" MONDO:0016342 "UMLS:CN226907" MONDO:0016342 "OMIM:107970" @@ -45169,18 +44124,18 @@ MONDO:0016342 "OMIM:602087" MONDO:0016342 "OMIM:604400" MONDO:0016342 "SCTID:715865008" MONDO:0016342 "OMIM:610476" +MONDO:0016342 "ICD10CM:I42.8" MONDO:0018795 "Orphanet:477794" MONDO:0018795 "UMLS:CN776900" +MONDO:0009676 "ICD10CM:G71.0" MONDO:0009676 "SCTID:718179003" MONDO:0009676 "NCIT:C142080" MONDO:0009676 "DOID:0110276" MONDO:0009676 "MESH:C535899" MONDO:0009676 "Orphanet:268" MONDO:0009676 "GARD:0008574" -MONDO:0009676 "ICD10:G71.0" MONDO:0009676 "OMIM:253601" MONDO:0004967 "OMIM:613067" -MONDO:0004967 "ICD10:C91.9" MONDO:0004967 "DOID:1037" MONDO:0004967 "GARD:0000522" MONDO:0004967 "MESH:D007945" @@ -45191,18 +44146,14 @@ MONDO:0004967 "OMIM:247640" MONDO:0004967 "ICDO:9835/3" MONDO:0004967 "Orphanet:513" MONDO:0004967 "HP:0006721" -MONDO:0004967 "ICD10:C91.00" MONDO:0004967 "ICD9:204.00" MONDO:0004967 "OMIM:615545" MONDO:0004967 "EFO:0000220" MONDO:0004967 "SCTID:91857003" -MONDO:0004967 "ICD10:C91.90" MONDO:0004967 "DOID:9952" MONDO:0004967 "ICD9:204.0" -MONDO:0004967 "ICD10:C91.0" MONDO:0004967 "ICD9:204" MONDO:0004967 "ICD9:204.9" -MONDO:0004967 "ICD10:C91" MONDO:0003650 "UMLS:C1334784" MONDO:0003650 "NCIT:C7097" MONDO:0003650 "ICDO:8970/3" @@ -45212,7 +44163,7 @@ MONDO:0007392 "SCTID:732248005" MONDO:0007392 "MESH:C565148" MONDO:0007392 "OMIM:122780" MONDO:0007392 "UMLS:C1852513" -MONDO:0007392 "ICD10:Q87.1" +MONDO:0007392 "ICD10CM:Q87.1" MONDO:0007392 "Orphanet:1508" MONDO:0008456 "MESH:C566669" MONDO:0008456 "UMLS:C1866770" @@ -45220,14 +44171,9 @@ MONDO:0008456 "OMIM:183050" MONDO:0002923 "NCIT:C40219" MONDO:0002923 "DOID:4227" MONDO:0002923 "UMLS:C1519849" -MONDO:0018521 "ICD10:C25.2" MONDO:0018521 "UMLS:C2675993" MONDO:0018521 "Orphanet:424039" -MONDO:0018521 "ICD10:C25.8" -MONDO:0018521 "ICD10:C25.0" -MONDO:0018521 "ICD10:C25.7" MONDO:0018521 "DOID:0080323" -MONDO:0018521 "ICD10:C25.1" MONDO:0018521 "UMLS:CN237524" NCBITaxon:544448 "GC_ID:11" NCBITaxon:544448 "PMID:26654112" @@ -45242,8 +44188,8 @@ MONDO:0033635 "OMIM:619046" MONDO:0016225 "UMLS:CN226885" MONDO:0016225 "Orphanet:211047" MONDO:0016225 "MESH:D000067559" +MONDO:0017783 "ICD10CM:Q45.2" MONDO:0017783 "Orphanet:313906" -MONDO:0017783 "ICD10:Q45.2" MONDO:0017783 "SCTID:204808002" MONDO:0011186 "Orphanet:886" MONDO:0011186 "UMLS:C1865885" @@ -45251,11 +44197,8 @@ MONDO:0011186 "DOID:0110832" MONDO:0011186 "Orphanet:231169" MONDO:0011186 "OMIM:602083" MONDO:0011186 "GARD:0010043" -MONDO:0011186 "ICD10:H35.5" MONDO:0001066 "NCIT:C41354" MONDO:0001066 "UMLS:C1517744" -MONDO:0001066 "ICD10:A66.4" -MONDO:0001066 "ICD10:A66.1" MONDO:0001066 "DOID:10567" MONDO:0001066 "UMLS:C0276007" MONDO:0001066 "ICD9:102.4" @@ -45266,7 +44209,7 @@ MONDO:0003180 "NCIT:C4471" MONDO:0003180 "SCTID:254711000" MONDO:0003180 "DOID:4871" MONDO:0012132 "OMIM:608812" -MONDO:0019601 "ICD10:G60.0" +MONDO:0019601 "ICD10CM:G60.0" MONDO:0019601 "Orphanet:91024" MONDO:0019601 "UMLS:CN206449" MONDO:0007771 "UMLS:C1835039" @@ -45283,30 +44226,29 @@ MONDO:0008339 "UMLS:C1867439" MONDO:0008339 "MESH:C566738" MONDO:0009897 "MESH:C564878" MONDO:0009897 "SCTID:721099001" -MONDO:0009897 "ICD10:E74.0" MONDO:0009897 "GARD:0000108" MONDO:0009897 "OMIM:263570" MONDO:0009897 "Orphanet:206583" +MONDO:0009897 "ICD10CM:E74.0" MONDO:0018404 "UMLS:CN227349" MONDO:0018404 "Orphanet:399980" NCBITaxon:11652 "GC_ID:1" MONDO:0010801 "MESH:C535779" MONDO:0010801 "Orphanet:3180" MONDO:0010801 "UMLS:C1838781" +MONDO:0010801 "ICD10CM:Q77.8" MONDO:0010801 "OMIM:600000" MONDO:0010801 "GARD:0004972" MONDO:0010801 "UMLS:C4274762" MONDO:0010801 "SCTID:716231009" -MONDO:0010801 "ICD10:Q77.8" MONDO:0008925 "MESH:C538286" MONDO:0008925 "DOID:0110243" MONDO:0008925 "Orphanet:91492" MONDO:0008925 "GARD:0001150" MONDO:0008925 "Orphanet:98987" MONDO:0008925 "OMIM:212500" -MONDO:0008925 "ICD10:Q12.0" -MONDO:0012588 "ICD10:E75.4" MONDO:0012588 "Orphanet:168491" +MONDO:0012588 "ICD10CM:E75.4" MONDO:0012588 "OMIM:610951" MONDO:0012588 "DOID:0110722" MONDO:0012588 "MESH:C563989" @@ -45332,8 +44274,8 @@ MONDO:0010417 "Orphanet:163937" MONDO:0010417 "OMIM:300749" MONDO:0010417 "MESH:C567466" MONDO:0010417 "UMLS:C2677903" +MONDO:0010417 "ICD10CM:Q04.3" MONDO:0010417 "GARD:0012669" -MONDO:0010417 "ICD10:Q04.3" MONDO:0010417 "DOID:0060807" MONDO:0015517 "MESH:D017074" MONDO:0015517 "OMIM:615767" @@ -45341,39 +44283,36 @@ MONDO:0015517 "OMIM:613496" MONDO:0015517 "GARD:0006140" MONDO:0015517 "OMIM:614699" MONDO:0015517 "OMIM:240500" +MONDO:0015517 "ICD10CM:D83.2" MONDO:0015517 "OMIM:613495" MONDO:0015517 "MedDRA:10021449" MONDO:0015517 "NCIT:C26725" -MONDO:0015517 "ICD10:D83.1" -MONDO:0015517 "ICD10:D83" MONDO:0015517 "OMIM:614700" -MONDO:0015517 "ICD10:D83.8" MONDO:0015517 "Orphanet:1572" -MONDO:0015517 "ICD10:D83.0" MONDO:0015517 "OMIM:607594" +MONDO:0015517 "ICD10CM:D83.0" MONDO:0015517 "OMIM:613493" MONDO:0015517 "SCTID:23238000" +MONDO:0015517 "ICD10CM:D83.9" MONDO:0015517 "OMIM:616576" MONDO:0015517 "OMIM:615577" MONDO:0015517 "ICD9:279.06" MONDO:0015517 "OMIMPS:607594" -MONDO:0015517 "ICD10:D83.2" MONDO:0015517 "UMLS:C0009447" -MONDO:0015517 "ICD10:D83.9" +MONDO:0015517 "ICD10CM:D83.8" MONDO:0015517 "OMIM:146830" +MONDO:0015517 "ICD10CM:D83.1" MONDO:0015517 "OMIM:613494" MONDO:0015517 "DOID:12177" MONDO:0011576 "SCTID:703233008" MONDO:0011576 "Orphanet:404" +MONDO:0011576 "ICD10CM:E26.0" MONDO:0011576 "OMIM:605635" -MONDO:0011576 "ICD10:E26.0" MONDO:0011576 "NCIT:C127162" MONDO:0011576 "MESH:C565312" MONDO:0011576 "UMLS:C1854107" MONDO:0011576 "UMLS:C3839212" MONDO:0011576 "GARD:0002789" -MONDO:0006716 "ICD10:I21" -MONDO:0006716 "ICD10:I22" MONDO:0006716 "EFO:1000883" MONDO:0006716 "UMLS:C0010072" MONDO:0006716 "SCTID:398274000" @@ -45387,28 +44326,27 @@ MONDO:0004819 "SCTID:441313008" MONDO:0004819 "DOID:9550" MONDO:0004819 "NCIT:C7150" MONDO:0004819 "UMLS:C2049069" -MONDO:0013755 "ICD10:Q82.8" MONDO:0013755 "OMIM:614438" MONDO:0013755 "DOID:0070138" -MONDO:0013755 "ICD10:Q87.8" +MONDO:0013755 "ICD10CM:Q87.8" MONDO:0013755 "UMLS:C3280799" MONDO:0013755 "Orphanet:2962" MONDO:0013755 "Orphanet:293633" +MONDO:0021514 "NCIT:C8536" +MONDO:0021514 "SCTID:92289001" +MONDO:0021514 "UMLS:C0685118" MONDO:0015175 "GARD:0010911" MONDO:0015175 "UMLS:C2609129" MONDO:0015175 "Orphanet:103919" -MONDO:0015175 "ICD10:K86.1" MONDO:0015175 "SCTID:448542008" MONDO:0015175 "MedDRA:10069002" MONDO:0015175 "DOID:0040091" -MONDO:0018398 "ICD10:N97.0" +MONDO:0015175 "ICD10CM:K86.1" MONDO:0018398 "Orphanet:399839" -MONDO:0021514 "NCIT:C8536" -MONDO:0021514 "SCTID:92289001" -MONDO:0021514 "UMLS:C0685118" +MONDO:0018398 "ICD10CM:N97.0" +MONDO:0016121 "ICD10CM:G71.1" MONDO:0016121 "UMLS:C0027127" MONDO:0016121 "Orphanet:206973" -MONDO:0016121 "ICD10:G71.1" MONDO:0030378 "OMIM:619423" MONDO:0011858 "OMIM:607565" MONDO:0011858 "MESH:C564378" @@ -45416,8 +44354,8 @@ MONDO:0011858 "UMLS:C1843661" MONDO:0009108 "OMIM:222690" MONDO:0009108 "MESH:C567132" MONDO:0009108 "GARD:0001854" -MONDO:0009108 "ICD10:E72.0" MONDO:0009108 "UMLS:C2673736" +MONDO:0009108 "ICD10CM:E72.0" MONDO:0009108 "Orphanet:1032" HP:0001114 "UMLS:C4280601" HP:0001114 "UMLS:C0302314" @@ -45443,7 +44381,6 @@ MONDO:0022779 "GARD:0001381" MONDO:0019259 "MedDRA:10034875" MONDO:0019259 "UMLS:C0751434" MONDO:0019259 "Orphanet:79254" -MONDO:0019259 "ICD10:E70.0" MONDO:0037743 "NCIT:C6642" MONDO:0037743 "UMLS:C1334599" MONDO:0000358 "DOID:0050567" @@ -45463,21 +44400,21 @@ MONDO:0000358 "OMIM:615892" MONDO:0000358 "OMIM:602966" MONDO:0000358 "OMIM:600625" MONDO:0017562 "Orphanet:295234" -MONDO:0017562 "ICD10:Q74.1" +MONDO:0017562 "ICD10CM:Q74.1" MONDO:0017215 "MedDRA:10051714" MONDO:0017215 "MESH:D002115" MONDO:0017215 "DOID:4734" MONDO:0017215 "NCIT:C84607" MONDO:0017215 "Orphanet:280062" MONDO:0017215 "SCTID:237900002" -MONDO:0017215 "ICD10:E83.5" MONDO:0017215 "GARD:0005980" MONDO:0017215 "UMLS:C0006666" +MONDO:0017215 "ICD10CM:E83.5" MONDO:0017215 "ICD9:275.49" MONDO:0008400 "OMIM:181010" MONDO:0008400 "MESH:D012465" MONDO:0012063 "OMIM:608571" -MONDO:0012063 "ICD10:Q73.8" +MONDO:0012063 "ICD10CM:Q73.8" MONDO:0012063 "MESH:C563905" MONDO:0012063 "Orphanet:52056" MONDO:0012063 "SCTID:719843001" @@ -45494,7 +44431,6 @@ MONDO:0002056 "SCTID:254847007" MONDO:0002056 "NCIT:C3744" MONDO:0002056 "ONCOTREE:FA" MONDO:0002056 "ICDO:9010/0" -MONDO:0002056 "ICD10:D24" MONDO:0002056 "UMLS:C0206650" MONDO:0001300 "CSP:2049-9000" MONDO:0001300 "DOID:0060054" @@ -45510,12 +44446,11 @@ MONDO:0000744 "DOID:0060317" MONDO:0000744 "ICD9:513.0" MONDO:0000744 "NCIT:C99090" MONDO:0000744 "UMLS:C0024110" -MONDO:0000744 "ICD10:J85.2" MONDO:0000744 "MESH:D008169" MONDO:0007203 "UMLS:C0346072" MONDO:0007203 "SCTID:254784002" MONDO:0007203 "Orphanet:1059" -MONDO:0007203 "ICD10:Q27.8" +MONDO:0007203 "ICD10CM:Q27.8" MONDO:0007203 "MESH:C536240" MONDO:0007203 "NCIT:C4486" MONDO:0007203 "OMIM:112200" @@ -45525,8 +44460,8 @@ MONDO:0009329 "Orphanet:199241" MONDO:0009329 "SCTID:233949008" MONDO:0009329 "UMLS:C0340548" MONDO:0009329 "GARD:0008527" -MONDO:0009329 "ICD10:D18.0" MONDO:0009329 "OMIM:234810" +MONDO:0009329 "ICD10CM:D18.0" MONDO:0009329 "ICD9:416.8" MONDO:0014242 "OMIM:615546" MONDO:0014242 "DOID:0080586" @@ -45536,11 +44471,11 @@ MONDO:0014619 "OMIM:616395" MONDO:0014619 "UMLS:C4017171" MONDO:0009841 "Orphanet:2836" MONDO:0009841 "OMIM:260565" +MONDO:0009841 "ICD10CM:G31.8" MONDO:0009841 "MESH:C536317" MONDO:0009841 "DOID:0080539" MONDO:0009841 "GARD:0004264" MONDO:0009841 "Orphanet:99807" -MONDO:0009841 "ICD10:G31.8" MONDO:0009841 "UMLS:C1850055" MONDO:0003497 "DOID:5534" MONDO:0003497 "NCIT:C7732" @@ -45561,26 +44496,26 @@ MONDO:0004316 "UMLS:C0345979" MONDO:0011407 "Orphanet:306530" MONDO:0011407 "OMIM:604185" MONDO:0011407 "UMLS:C1858717" -MONDO:0013607 "ICD10:D72.8" +MONDO:0020474 "Orphanet:99647" +MONDO:0020474 "UMLS:C4510810" +MONDO:0020474 "SCTID:725104005" +MONDO:0009195 "OMIM:227000" MONDO:0013607 "OMIM:614172" +MONDO:0013607 "ICD10CM:D72.8" MONDO:0013607 "Orphanet:228423" MONDO:0013607 "GARD:0010934" MONDO:0013607 "UMLS:C3280030" MONDO:0016811 "OMIM:124000" MONDO:0016811 "UMLS:CN202065" +MONDO:0016811 "ICD10CM:E88.8" MONDO:0016811 "Orphanet:254902" -MONDO:0016811 "ICD10:E88.8" -MONDO:0009195 "OMIM:227000" -MONDO:0020474 "Orphanet:99647" -MONDO:0020474 "UMLS:C4510810" -MONDO:0020474 "SCTID:725104005" MONDO:0019992 "OMIM:612462" +MONDO:0019992 "ICD10CM:E20.1" MONDO:0019992 "ICD9:275.49" MONDO:0019992 "SCTID:58976002" MONDO:0019992 "DOID:4184" MONDO:0019992 "GARD:0010758" MONDO:0019992 "UMLS:C0033806" -MONDO:0019992 "ICD10:E20.1" MONDO:0019992 "MESH:D011547" MONDO:0019992 "Orphanet:97593" MONDO:0019992 "OMIM:603233" @@ -45592,11 +44527,11 @@ MONDO:0005549 "ICDO:8311/1" MONDO:0005549 "EFO:0005708" MONDO:0005549 "NCIT:C9385" MONDO:0012438 "OMIM:610204" -MONDO:0012438 "ICD10:Q04.3" MONDO:0012438 "GARD:0010709" MONDO:0012438 "DOID:0060274" MONDO:0012438 "MESH:C537745" MONDO:0012438 "SCTID:718607001" +MONDO:0012438 "ICD10CM:Q04.3" MONDO:0012438 "Orphanet:166068" MONDO:0012438 "UMLS:C1857762" MONDO:0003505 "MESH:D005266" @@ -45611,34 +44546,32 @@ MONDO:0006686 "DOID:3523" MONDO:0006686 "ICD9:434.91" MONDO:0005432 "EFO:0004776" MONDO:0007632 "OMIM:136580" -NCBITaxon:6252 "GC_ID:1" MONDO:0044238 "OMIM:152600" +NCBITaxon:6252 "GC_ID:1" MONDO:0007197 "SCTID:197866008" -MONDO:0007197 "ICD10:N32.3" MONDO:0007197 "OMIM:109820" +MONDO:0007197 "ICD10CM:N32.3" MONDO:0007197 "HP:0000015" MONDO:0007197 "ICD9:596.3" MONDO:0007197 "DOID:11353" MONDO:0007197 "MESH:C562406" -MONDO:0005757 "ICD10:B47.9" MONDO:0005757 "ICD9:117.4" MONDO:0005757 "EFO:0007265" -MONDO:0005757 "ICD10:B47" MONDO:0005757 "DOID:13078" MONDO:0005757 "SCTID:410038006" -MONDO:0009499 "ICD10:E75.2" MONDO:0009499 "OMIM:611722" -MONDO:0009499 "ICD10:E75.23" MONDO:0009499 "MESH:D007965" +MONDO:0009499 "ICD10CM:E75.23" MONDO:0009499 "NCIT:C61254" MONDO:0009499 "SCTID:189979005" MONDO:0009499 "UMLS:C0023521" +MONDO:0009499 "ICD10CM:E75.2" MONDO:0009499 "MedDRA:10023492" MONDO:0009499 "OMIM:245200" MONDO:0009499 "GARD:0006844" MONDO:0009499 "DOID:10587" MONDO:0009499 "Orphanet:487" -MONDO:0034217 "ICD10:E07.8" +MONDO:0034217 "ICD10CM:E07.8" MONDO:0034217 "Orphanet:566243" MONDO:0034217 "OMIM:188570" MONDO:0034217 "OMIM:274300" @@ -45649,14 +44582,12 @@ MONDO:0012848 "UMLS:C2676790" MONDO:0012848 "DOID:0070120" MONDO:0012848 "MESH:C567365" MONDO:0012848 "OMIM:612284" -MONDO:0012848 "ICD10:Q61.9" MONDO:0001020 "ICD9:368.00" MONDO:0001020 "HP:0000646" MONDO:0001020 "SCTID:387742006" MONDO:0001020 "NCIT:C118764" -MONDO:0001020 "UMLS:C0002418" MONDO:0001020 "DOID:10376" -MONDO:0001020 "ICD10:H53.00" +MONDO:0001020 "UMLS:C0002418" MONDO:0001020 "CSP:1114-9655" MONDO:0000250 "MEDGEN:540779" MONDO:0000250 "DOID:0050130" @@ -45677,18 +44608,19 @@ MONDO:0019491 "UMLS:CN227638" MONDO:0007936 "OMIM:153890" MONDO:0007936 "UMLS:C1835173" MONDO:0007936 "MESH:C563607" -MONDO:0015519 "ICD10:E75.2" MONDO:0015519 "OMIM:603896" +MONDO:0015519 "ICD10CM:E75.2" MONDO:0015519 "Orphanet:157713" +MONDO:0006873 "ICD10CM:E40-E46" MONDO:0006873 "NCIT:C3669" MONDO:0006873 "EFO:1001067" MONDO:0006873 "MedDRA:10046058" MONDO:0006873 "SCTID:70241007" MONDO:0006873 "ICD9:269.8" MONDO:0006873 "MESH:D003677" -MONDO:0006873 "ICD10:E40.E46" MONDO:0006873 "DOID:5113" MONDO:0006873 "SCTID:363246002" +MONDO:0006873 "ICD10CM:E50-E64" MONDO:0006873 "ICD9:269.9" MONDO:0018294 "Orphanet:371207" MONDO:0043226 "GARD:0006037" @@ -45704,22 +44636,22 @@ MONDO:0016982 "MESH:D006394" MONDO:0016982 "ONCOTREE:ANGS" MONDO:0016982 "SCTID:403977003" MONDO:0016982 "EFO:0003967" +MONDO:0016982 "ICD10CM:C49.9" MONDO:0016982 "NCIT:C3088" MONDO:0016982 "ICD9:171.9" MONDO:0016982 "HP:0200058" MONDO:0016982 "Orphanet:263413" MONDO:0016982 "EFO:0003968" MONDO:0016982 "MedDRA:10002476" -MONDO:0016982 "ICD10:C49.9" MONDO:0006361 "EFO:1000466" MONDO:0006361 "NCIT:C3316" MONDO:0018209 "Orphanet:363717" -MONDO:0018209 "ICD10:E75.2" +MONDO:0018209 "ICD10CM:E75.2" MONDO:0018209 "UMLS:CN204729" MONDO:0018209 "OMIM:203450" MONDO:0009561 "MESH:D008363" -MONDO:0009561 "ICD10:E77.1" MONDO:0009561 "UMLS:C0024748" +MONDO:0009561 "ICD10CM:E77.1" MONDO:0009561 "GARD:0006968" MONDO:0009561 "Orphanet:61" MONDO:0009561 "DOID:3413" @@ -45731,7 +44663,6 @@ MONDO:0008791 "GARD:0005808" MONDO:0008791 "Orphanet:1048" MONDO:0008791 "OMIM:206500" MONDO:0008791 "ICD9:740.0" -MONDO:0008791 "ICD10:Q00.0" MONDO:0008791 "SCTID:89369001" MONDO:0014116 "UMLS:C3809013" MONDO:0014116 "DOID:0090133" @@ -45742,10 +44673,10 @@ MONDO:0003852 "UMLS:C1335181" MONDO:0003852 "DOID:6315" MONDO:0013053 "SCTID:719395001" MONDO:0013053 "OMIM:612946" +MONDO:0013053 "ICD10CM:Q87.8" MONDO:0013053 "UMLS:C2751878" MONDO:0013053 "MESH:C567850" MONDO:0013053 "Orphanet:217026" -MONDO:0013053 "ICD10:Q87.8" MONDO:0002461 "SCTID:80321008" MONDO:0002461 "HP:0000793" MONDO:0002461 "MESH:D015432" @@ -45756,7 +44687,6 @@ MONDO:0001691 "UMLS:C0153486" MONDO:0001691 "ICD9:161.3" MONDO:0001691 "SCTID:363431006" MONDO:0001691 "DOID:13348" -MONDO:0001691 "ICD10:C32.3" MONDO:0007594 "UMLS:C1851378" MONDO:0007594 "MESH:C565026" MONDO:0007594 "OMIM:134400" @@ -45777,11 +44707,12 @@ MONDO:0023030 "GARD:0002009" MONDO:0013920 "Orphanet:1930" MONDO:0013920 "OMIM:614849" MONDO:0015036 "SCTID:715820004" +MONDO:0015036 "ICD10CM:Q04.3" MONDO:0015036 "UMLS:CN228902" MONDO:0015036 "UMLS:C4274992" -MONDO:0015036 "ICD10:Q04.3" MONDO:0015036 "Orphanet:100013" MONDO:0013357 "DOID:0060403" +MONDO:0013357 "ICD10CM:Q85.0" MONDO:0013357 "GARD:0005408" MONDO:0013357 "Orphanet:137634" MONDO:0013357 "UMLS:C3280095" @@ -45790,9 +44721,8 @@ MONDO:0013357 "SCTID:722122000" MONDO:0013357 "Orphanet:139474" MONDO:0013357 "OMIM:613675" MONDO:0013357 "MESH:C563524" -MONDO:0013357 "ICD10:Q85.0" +MONDO:0013357 "ICD10CM:Q87.3" MONDO:0013357 "Orphanet:97685" -MONDO:0013357 "ICD10:Q87.3" NCIT:C12378 "IMDRF:E10" NCBITaxon:2157 "PMID:10490293" NCBITaxon:2157 "PMID:10939677" @@ -45843,33 +44773,30 @@ MONDO:0000746 "DOID:0060320" MONDO:0000746 "HP:0000023" MONDO:0000746 "NCIT:C34690" MONDO:0000746 "MESH:D006552" -MONDO:0000746 "ICD10:K40" MONDO:0000746 "ICD9:550" -MONDO:0000746 "ICD10:K40.90" MONDO:0000746 "SCTID:396232000" -MONDO:0011812 "SCTID:699867001" -MONDO:0011812 "ICD9:759.89" -MONDO:0011812 "DOID:0060747" -MONDO:0011812 "UMLS:CN206803" +MONDO:0011812 "OMIM:607323" MONDO:0011812 "Orphanet:959" +MONDO:0011812 "UMLS:CN206803" MONDO:0011812 "Orphanet:93293" -MONDO:0011812 "OMIM:607323" -MONDO:0011812 "SCTID:720415006" -MONDO:0011812 "ICD10:Q87.8" +MONDO:0011812 "ICD9:759.89" +MONDO:0011812 "SCTID:699867001" +MONDO:0011812 "DOID:0060747" MONDO:0011812 "GARD:0009182" +MONDO:0011812 "SCTID:720415006" +MONDO:0011812 "ICD10CM:Q87.8" MONDO:0019595 "Orphanet:90786" MONDO:0019595 "UMLS:CN227657" MONDO:0600030 "SCTID:450956008" MONDO:0600030 "NCIT:C80347" MONDO:0600030 "Orphanet:585956" -MONDO:0600030 "ICD10CM:C91.0" MONDO:0600030 "DOID:0080649" MONDO:0011399 "UMLS:C0002312" MONDO:0011399 "MedDRA:10043390" MONDO:0011399 "OMIM:604131" MONDO:0011399 "DOID:1099" MONDO:0011399 "ICD9:282.43" -MONDO:0011399 "ICD10:D56.0" +MONDO:0011399 "ICD10CM:D56.0" MONDO:0011399 "ICD9:282.49" MONDO:0011399 "Orphanet:846" MONDO:0011399 "GARD:0000621" @@ -45897,16 +44824,14 @@ MONDO:0000933 "NCIT:C4426" MONDO:0000933 "DOID:10069" MONDO:0000933 "SCTID:126696001" MONDO:0000933 "UMLS:C0345746" -MONDO:0010259 "ICD10:H35.5" MONDO:0010259 "UMLS:C3887982" MONDO:0010259 "DOID:0110416" MONDO:0010259 "GARD:0010389" MONDO:0010259 "OMIM:300155" MONDO:0001964 "SCTID:87665008" -MONDO:0001964 "ICD10:H66.1" MONDO:0001964 "ICD9:382.1" -MONDO:0001964 "ICD10:H66.10" MONDO:0001964 "UMLS:C0155440" +MONDO:0001964 "ICD10CM:H66.1" MONDO:0001964 "DOID:14435" MONDO:0007867 "GARD:0009760" MONDO:0007867 "MESH:C537260" @@ -45937,15 +44862,15 @@ HP:0001999 "UMLS:C0266617" MONDO:0016414 "Orphanet:2266" MONDO:0016414 "UMLS:CN201347" MONDO:0017972 "Orphanet:325524" -MONDO:0017972 "ICD10:E25.0" -MONDO:0007047 "Orphanet:38" -MONDO:0007047 "ICD10:Q82.8" +MONDO:0017972 "ICD10CM:E25.0" MONDO:0007047 "MESH:C535653" -MONDO:0007047 "DOID:0060362" -MONDO:0007047 "UMLS:C0545044" -MONDO:0007047 "GARD:0000133" MONDO:0007047 "OMIM:101850" +MONDO:0007047 "GARD:0000133" MONDO:0007047 "GARD:0000125" +MONDO:0007047 "Orphanet:38" +MONDO:0007047 "ICD10CM:Q82.8" +MONDO:0007047 "UMLS:C0545044" +MONDO:0007047 "DOID:0060362" MONDO:0007047 "EFO:1000758" MONDO:0003507 "UMLS:C0346181" MONDO:0003507 "SCTID:254870004" @@ -45953,25 +44878,25 @@ MONDO:0003507 "EFO:1000413" MONDO:0003507 "DOID:5550" MONDO:0003507 "NCIT:C4515" MONDO:0014086 "Orphanet:666" -MONDO:0014086 "ICD10:Q78.0" MONDO:0014086 "UMLS:C3808844" MONDO:0014086 "DOID:0110347" +MONDO:0014086 "ICD10CM:Q78.0" MONDO:0014086 "Orphanet:216820" MONDO:0014086 "OMIM:615220" MONDO:0014086 "Orphanet:216812" MONDO:0010446 "SCTID:718718009" -MONDO:0010446 "ICD10:H53.8" MONDO:0010446 "OMIM:300843" MONDO:0010446 "Orphanet:90001" MONDO:0010446 "UMLS:C3159311" MONDO:0010446 "MESH:C564092" +MONDO:0010446 "ICD10CM:H53.8" MONDO:0011520 "OMIM:605218" MONDO:0011520 "UMLS:C1854577" MONDO:0004694 "MESH:D020065" MONDO:0004694 "ICD9:417.8" +MONDO:0004694 "ICD10CM:K76.81" MONDO:0004694 "GARD:0013384" MONDO:0004694 "DOID:900" -MONDO:0004694 "ICD10:K76.81" MONDO:0004694 "SCTID:371067004" MONDO:0004694 "UMLS:C0600452" MONDO:0004694 "EFO:1001346" @@ -45979,16 +44904,15 @@ MONDO:0004694 "ICD9:573.5" NCBITaxon:39733 "GC_ID:1" MONDO:0017588 "Orphanet:300515" MONDO:0017855 "Orphanet:317419" -MONDO:0017855 "ICD10:D81.1" +MONDO:0019144 "ICD10CM:D68.5" MONDO:0019144 "Orphanet:743" MONDO:0019144 "OMIM:612336" -MONDO:0019144 "ICD10:D68.5" MONDO:0019144 "OMIM:614514" +MONDO:0018801 "ICD10CM:Q55.4" MONDO:0018801 "SCTID:275416002" MONDO:0018801 "ICD9:752.89" MONDO:0018801 "OMIM:300985" MONDO:0018801 "MedDRA:10010670" -MONDO:0018801 "ICD10:Q55.4" MONDO:0018801 "OMIMPS:277180" MONDO:0018801 "Orphanet:48" MONDO:0018801 "OMIM:277180" @@ -45999,16 +44923,16 @@ MONDO:0005922 "MESH:D014396" MONDO:0005922 "ICD9:010.12" MONDO:0005922 "ICD9:010.1" MONDO:0005922 "ICD9:012.00" +MONDO:0005922 "ICD10CM:A15.6" MONDO:0005922 "NCIT:C26898" MONDO:0005922 "ICD9:010.16" MONDO:0005922 "ICD9:010.10" -MONDO:0005922 "ICD10:A15.6" MONDO:0005922 "SCTID:186172004" MONDO:0005922 "DOID:106" MONDO:0005922 "ICD9:012.0" MONDO:0019320 "Orphanet:79468" -MONDO:0019320 "ICD10:Q82.5" MONDO:0019320 "GARD:0005485" +MONDO:0019320 "ICD10CM:Q82.5" MONDO:0019320 "UMLS:CN205975" FOODON:03400652 "http://www.langual.org/langual_thesaurus.asp?termid=A0652" MONDO:0011050 "OMIM:601355" @@ -46016,15 +44940,14 @@ MONDO:0011050 "SCTID:719379001" MONDO:0011050 "Orphanet:2516" MONDO:0011050 "GARD:0002098" MONDO:0011050 "MESH:C563341" -MONDO:0011050 "ICD10:Q87.8" +MONDO:0011050 "ICD10CM:Q87.8" MONDO:0010761 "OMIM:400004" -MONDO:0010761 "ICD10:H35.5" MONDO:0010761 "Orphanet:791" MONDO:0010761 "MESH:C564035" MONDO:0010761 "DOID:0110418" MONDO:0010761 "UMLS:C1839079" -MONDO:0006014 "ICD10:B37.3" MONDO:0006014 "NCIT:C2914" +MONDO:0006014 "ICD10CM:B37.3" MONDO:0006014 "SCTID:72605008" MONDO:0006014 "MESH:D002181" MONDO:0006014 "ICD9:112.1" @@ -46033,7 +44956,6 @@ MONDO:0006014 "DOID:2272" MONDO:0006014 "UMLS:C0700345" NCBITaxon:2732459 "GC_ID:1" MONDO:0012961 "MESH:C567233" -MONDO:0012961 "ICD10:E10" MONDO:0012961 "UMLS:C2675472" MONDO:0012961 "OMIM:612622" MONDO:0012961 "DOID:0110760" @@ -46047,7 +44969,7 @@ MONDO:0008394 "ICD9:759.89" MONDO:0008394 "Orphanet:813" MONDO:0008394 "NCIT:C85068" MONDO:0008394 "SCTID:15069006" -MONDO:0008394 "ICD10:Q87.1" +MONDO:0008394 "ICD10CM:Q87.1" MONDO:0008394 "OMIM:312780" MONDO:0008394 "UMLS:C0175693" MONDO:0008394 "OMIMPS:180860" @@ -46057,9 +44979,9 @@ MONDO:0014990 "UMLS:C4310648" MONDO:0010669 "UMLS:C1839728" MONDO:0010669 "SCTID:715442006" MONDO:0010669 "Orphanet:2498" -MONDO:0010669 "ICD10:Q70.0" MONDO:0010669 "MESH:C564100" MONDO:0010669 "OMIM:309630" +MONDO:0010669 "ICD10CM:Q70.0" MONDO:0010669 "GARD:0003559" MONDO:0017385 "OMIM:616645" MONDO:0017385 "UMLS:CN203114" @@ -46071,33 +44993,30 @@ MONDO:0017385 "UMLS:CN240507" MONDO:0017385 "OMIM:615338" MONDO:0017385 "NCIT:C125387" MONDO:0005276 "ICD9:521.06" -MONDO:0005276 "ICD10:K02" MONDO:0005276 "SCTID:80967001" MONDO:0005276 "DOID:216" -MONDO:0005276 "ICD10:K02.9" MONDO:0005276 "EFO:0003819" MONDO:0005276 "UMLS:C0011334" +MONDO:0005276 "ICD10CM:K02" MONDO:0005276 "ICD9:521.0" MONDO:0005276 "MESH:D003731" -MONDO:0005276 "ICD10:K02.6" MONDO:0005276 "NCIT:C52593" MONDO:0005276 "ICD9:521.07" MONDO:0005276 "ICD9:521.00" MONDO:0016843 "UMLS:CN202183" +MONDO:0016843 "ICD10CM:Q93.5" MONDO:0016843 "Orphanet:261311" MONDO:0016843 "UMLS:C4518823" -MONDO:0016843 "ICD10:Q93.5" MONDO:0016843 "SCTID:733520002" MONDO:0008652 "Orphanet:178382" -MONDO:0008652 "ICD10:Q66.8" MONDO:0008652 "DOID:0111568" MONDO:0008652 "MESH:C536345" MONDO:0008652 "GARD:0005488" MONDO:0008652 "MedDRA:10066242" +MONDO:0008652 "ICD10CM:Q66.8" MONDO:0008652 "SCTID:205082007" MONDO:0008652 "ICD9:755.67" MONDO:0008652 "OMIM:192950" -MONDO:0001513 "ICD10:H05.26" MONDO:0001513 "ICD9:376.35" MONDO:0001513 "DOID:12364" MONDO:0001513 "UMLS:C0155271" @@ -46111,12 +45030,11 @@ MONDO:0003713 "SCTID:21848000" MONDO:0003713 "DOID:5949" MONDO:0003713 "NCIT:C7751" MONDO:0019406 "Orphanet:85168" -MONDO:0019406 "ICD10:Q87.5" +MONDO:0019406 "ICD10CM:Q87.5" MONDO:0024432 "SCTID:2231001" MONDO:0024432 "DOID:3688" MONDO:0024432 "NCIT:C27744" MONDO:0024432 "UMLS:C1335437" -MONDO:0011249 "ICD10:G24.1" MONDO:0011249 "OMIM:602554" MONDO:0011249 "MESH:C536969" MONDO:0011249 "DOID:0090058" @@ -46131,7 +45049,6 @@ MONDO:0002954 "UMLS:C0334256" MONDO:0002954 "NCIT:C4108" MONDO:0002954 "SCTID:403914000" MONDO:0002266 "ICD9:495.4" -MONDO:0002266 "ICD10:J67.4" MONDO:0002266 "SCTID:25897000" MONDO:0002266 "DOID:2314" MONDO:0002266 "UMLS:C0155888" @@ -46140,9 +45057,9 @@ MONDO:0001496 "DOID:12333" MONDO:0001496 "SCTID:198064007" MONDO:0002442 "MESH:D008133" MONDO:0002442 "Orphanet:768" +MONDO:0002442 "ICD10CM:I45.81" MONDO:0002442 "UMLS:C0035828" MONDO:0002442 "DOID:2843" -MONDO:0002442 "ICD10:I45.81" MONDO:0002442 "NCIT:C34786" MONDO:0002442 "ICD9:426.82" MONDO:0002442 "SCTID:20852007" @@ -46161,9 +45078,9 @@ MONDO:0011178 "UMLS:C1865926" MONDO:0011178 "SCTID:715534008" MONDO:0011178 "MESH:C535522" MONDO:0011178 "Orphanet:31709" +MONDO:0011178 "ICD10CM:G40.4" MONDO:0011178 "OMIM:602066" MONDO:0011178 "GARD:0008553" -MONDO:0011178 "ICD10:G40.4" MONDO:0011178 "NCIT:C126650" MONDO:0005688 "SCTID:86500004" MONDO:0005688 "MESH:D002169" @@ -46171,12 +45088,12 @@ MONDO:0005688 "DOID:13622" MONDO:0005688 "EFO:0007190" MONDO:0005688 "UMLS:C0006818" FOODON:00001094 "SUBSET_SIREN:F5644" +MONDO:0012510 "ICD10CM:E88.8" MONDO:0012510 "Orphanet:254920" MONDO:0012510 "UMLS:C1864843" MONDO:0012510 "MESH:C566468" MONDO:0012510 "OMIM:610498" MONDO:0012510 "DOID:0111483" -MONDO:0012510 "ICD10:E88.8" MONDO:0012510 "SCTID:764943000" HP:0005912 "SNOMEDCT_US:77480004" HP:0005912 "SNOMEDCT_US:82821008" @@ -46186,8 +45103,6 @@ MONDO:0004883 "UMLS:C0154893" MONDO:0004883 "SCTID:74469006" MONDO:0004883 "DOID:9794" MONDO:0004883 "ICD9:363.50" -MONDO:0004883 "ICD10:H31.2" -MONDO:0004883 "ICD10:H31.20" MONDO:0004883 "ICD9:363.5" MONDO:0006912 "MedDRA:10049732" MONDO:0006912 "SCTID:17465007" @@ -46218,9 +45133,8 @@ MONDO:0013951 "UMLS:C3554002" MONDO:0013951 "OMIM:614886" MONDO:0000367 "DOID:0050596" MONDO:0000367 "SCTID:69163003" +MONDO:0000367 "ICD10CM:B68" MONDO:0000367 "ICD9:123.2" -MONDO:0000367 "ICD10:B68" -MONDO:0000367 "ICD10:B68.1" MONDO:0000367 "NCIT:C85180" MONDO:0000367 "UMLS:C0152073" MONDO:0000367 "EFO:1001433" @@ -46229,9 +45143,9 @@ MONDO:0020337 "SCTID:59548005" MONDO:0020337 "OMIM:615631" MONDO:0020337 "DOID:0111396" MONDO:0020337 "GARD:0002000" +MONDO:0020337 "ICD10CM:D64.4" MONDO:0020337 "OMIM:224120" MONDO:0020337 "Orphanet:98869" -MONDO:0020337 "ICD10:D64.4" MONDO:0009384 "Orphanet:755" MONDO:0009384 "Orphanet:96265" MONDO:0009384 "Orphanet:96266" @@ -46241,36 +45155,35 @@ MONDO:0021311 "NCIT:C9322" MONDO:0021311 "SCTID:363481002" MONDO:0021311 "ICD9:194.1" MONDO:0021311 "ONCOTREE:PTH" +MONDO:0005055 "ICD10CM:C46.3" MONDO:0005055 "Orphanet:33276" MONDO:0005055 "GARD:0006814" -MONDO:0005055 "ICD10:C46.7" +MONDO:0005055 "ICD10CM:C46.0" MONDO:0005055 "MedDRA:10023284" +MONDO:0005055 "ICD10CM:C46.2" MONDO:0005055 "NCIT:C9087" -MONDO:0005055 "ICD10:C46.0" -MONDO:0005055 "ICD10:C46.2" MONDO:0005055 "ICD9:176" MONDO:0005055 "ICD9:176.9" MONDO:0005055 "MESH:D012514" MONDO:0005055 "EFO:0000558" MONDO:0005055 "HP:0100726" +MONDO:0005055 "ICD10CM:C46.1" MONDO:0005055 "ICDO:9140/3" -MONDO:0005055 "ICD10:C46.1" -MONDO:0005055 "ICD10:C46.3" MONDO:0005055 "DOID:8632" MONDO:0005055 "OMIM:148000" MONDO:0005055 "ICD9:176.8" -MONDO:0005055 "ICD10:C46.8" +MONDO:0005055 "ICD10CM:C46.7" +MONDO:0005055 "ICD10CM:C46.9" MONDO:0005055 "SCTID:109385007" -MONDO:0005055 "ICD10:C46.9" MONDO:0009646 "UMLS:C1854978" MONDO:0009646 "MESH:C565370" MONDO:0009646 "OMIM:252270" MONDO:0010858 "Orphanet:2429" +MONDO:0010858 "ICD10CM:Q87.8" MONDO:0010858 "SCTID:716108004" MONDO:0010858 "MESH:C563963" MONDO:0010858 "UMLS:C1838281" MONDO:0010858 "OMIM:600302" -MONDO:0010858 "ICD10:Q87.8" MONDO:0002546 "ONCOTREE:SCHW" MONDO:0002546 "MedDRA:10029235" MONDO:0002546 "ICDO:9560/0" @@ -46286,25 +45199,25 @@ MONDO:0002546 "Orphanet:252164" MONDO:0002546 "SCTID:404022001" MONDO:0002546 "UMLS:C0027809" NCBITaxon:200643 "GC_ID:11" +MONDO:0010611 "SCTID:71779008" MONDO:0010611 "OMIM:307000" -MONDO:0010611 "ICD10:Q03.0" -MONDO:0010611 "GARD:0000434" +MONDO:0010611 "ICD10CM:Q03.0" +MONDO:0010611 "MESH:C536078" MONDO:0010611 "Orphanet:275543" +MONDO:0010611 "GARD:0000434" MONDO:0010611 "Orphanet:2182" -MONDO:0010611 "SCTID:71779008" -MONDO:0010611 "MESH:C536078" -MONDO:0016280 "ICD10:C53.0" -MONDO:0016280 "ICD10:C53.1" MONDO:0016280 "Orphanet:213797" -MONDO:0016280 "ICD10:C53.8" MONDO:0016280 "UMLS:CN201070" +MONDO:0016280 "ICD10CM:C53.0" +MONDO:0016280 "ICD10CM:C53.1" +MONDO:0016280 "ICD10CM:C53.8" MONDO:0019797 "OMIM:614613" MONDO:0019797 "OMIM:101800" MONDO:0019797 "MESH:C538179" MONDO:0019797 "SCTID:66758006" MONDO:0019797 "UMLS:C0220659" +MONDO:0019797 "ICD10CM:Q75.4" MONDO:0019797 "DOID:14669" -MONDO:0019797 "ICD10:Q75.4" MONDO:0019797 "GARD:0005724" MONDO:0019797 "OMIMPS:101800" MONDO:0019797 "ICD9:756.59" @@ -46313,13 +45226,12 @@ MONDO:0008244 "OMIM:172800" MONDO:0008244 "Orphanet:2884" MONDO:0008244 "SCTID:6479008" MONDO:0008244 "ICD9:270.2" -MONDO:0008244 "ICD10:E70.3" MONDO:0008244 "UMLS:C0080024" MONDO:0008244 "NCIT:C85009" MONDO:0008244 "DOID:3263" MONDO:0008244 "GARD:0004344" MONDO:0008244 "MESH:D016116" -MONDO:0008244 "ICD10:E70.39" +MONDO:0008244 "ICD10CM:E70.3" MONDO:0004000 "NCIT:C4048" MONDO:0004000 "DOID:6812" MONDO:0004000 "UMLS:C1332995" @@ -46328,9 +45240,9 @@ MONDO:0008887 "Orphanet:60033" MONDO:0008887 "MESH:C567618" MONDO:0008887 "OMIM:211400" MONDO:0008887 "UMLS:C2749757" -MONDO:0003150 "ICD10:N40.N51" +MONDO:0003150 "ICD10CM:N40-N51" +MONDO:0003150 "ICD10CM:N40-N53" MONDO:0003150 "SCTID:363194005" -MONDO:0003150 "ICD10:N50.9" MONDO:0003150 "MESH:D005832" MONDO:0003150 "ICD9:600-608.99" MONDO:0003150 "NCIT:C27019" @@ -46374,14 +45286,12 @@ MONDO:0008431 "MESH:D060048" MONDO:0005441 "MESH:D010033" MONDO:0005441 "UMLS:C0029882" MONDO:0005441 "SCTID:65363002" -MONDO:0005441 "ICD10:H66.90" MONDO:0005441 "DOID:10754" MONDO:0005441 "HP:0000388" -MONDO:0005441 "ICD10:H66.9" MONDO:0005441 "ICD9:382.9" MONDO:0005441 "EFO:0004992" MONDO:0005441 "NCIT:C34885" -MONDO:0014672 "ICD10:Q78.0" +MONDO:0014672 "ICD10CM:Q78.0" MONDO:0014672 "OMIM:616507" MONDO:0014672 "Orphanet:216820" MONDO:0014672 "UMLS:C4225301" @@ -46395,7 +45305,6 @@ MONDO:0021838 "MESH:C535616" MONDO:0000775 "DOID:0060500" MONDO:0000775 "MESH:D004342" MONDO:0006678 "MESH:D001744" -MONDO:0006678 "ICD10:N21.0" MONDO:0006678 "NCIT:C26707" MONDO:0006678 "DOID:11355" MONDO:0006678 "SCTID:70650003" @@ -46404,12 +45313,12 @@ MONDO:0006678 "MedDRA:10005001" MONDO:0006678 "EFO:1000839" MONDO:0006678 "ICD9:594.1" NCBITaxon:43817 "GC_ID:1" -MONDO:0015225 "ICD10:Q68.8" +MONDO:0015225 "ICD10CM:Q68.8" MONDO:0015225 "Orphanet:109007" -MONDO:0007906 "SCTID:715439000" MONDO:0007906 "GARD:3126" -MONDO:0007906 "ICD10:E88.1" +MONDO:0007906 "SCTID:715439000" MONDO:0007906 "OMIM:151660" +MONDO:0007906 "ICD10CM:E88.1" MONDO:0007906 "GARD:0003126" MONDO:0007906 "DOID:0070202" MONDO:0007906 "Orphanet:2348" @@ -46417,8 +45326,8 @@ MONDO:0011028 "DOID:0110280" MONDO:0011028 "GARD:0008573" MONDO:0011028 "SCTID:718177001" MONDO:0011028 "OMIM:601287" +MONDO:0011028 "ICD10CM:G71.0" MONDO:0011028 "MESH:C535896" -MONDO:0011028 "ICD10:G71.0" MONDO:0011028 "Orphanet:219" MONDO:0012102 "MESH:C563873" MONDO:0012102 "OMIM:608696" @@ -46427,7 +45336,6 @@ MONDO:0012102 "UMLS:C1837527" MONDO:0001357 "UMLS:C0002884" MONDO:0001357 "HP:0001931" MONDO:0001357 "DOID:11759" -MONDO:0001357 "ICD10:D50" MONDO:0001357 "SCTID:44452003" MONDO:0001357 "NCIT:C34380" MONDO:0018827 "OMIMPS:610448" @@ -46442,7 +45350,7 @@ MONDO:0043164 "MESH:C538107" MONDO:0004733 "DOID:9235" MONDO:0004733 "ICD9:148.1" MONDO:0004733 "UMLS:C0153400" -MONDO:0004733 "ICD10:C12" +MONDO:0004733 "ICD10CM:C12" MONDO:0004733 "NCIT:C3531" MONDO:0004733 "SCTID:363401000" MONDO:0011343 "MESH:C566360" @@ -46455,29 +45363,29 @@ MONDO:0013543 "SCTID:190953007" MONDO:0013543 "ICD9:277.89" MONDO:0013543 "UMLS:C0268417" MONDO:0013543 "OMIM:614044" -MONDO:0015091 "ICD10:G11.4" MONDO:0015091 "MESH:C536868" MONDO:0015091 "OMIM:601162" MONDO:0015091 "Orphanet:100990" +MONDO:0015091 "ICD10CM:G11.4" MONDO:0015091 "GARD:0009583" -MONDO:0018490 "ICD10:Q77.7" MONDO:0018490 "Orphanet:420794" MONDO:0018490 "SCTID:766874001" MONDO:0018490 "UMLS:CN237491" +MONDO:0018490 "ICD10CM:Q77.7" MONDO:0100054 "SCTID:241954008" MONDO:0023022 "GARD:0001992" MONDO:0017270 "UMLS:CN202791" MONDO:0017270 "Orphanet:281217" MONDO:0019229 "UMLS:CN227594" MONDO:0019229 "Orphanet:79183" -MONDO:0019229 "ICD10:E71.3" +MONDO:0019229 "ICD10CM:E71.3" MONDO:0009234 "SCTID:27312002" MONDO:0009234 "NCIT:C98946" MONDO:0009234 "Orphanet:483" MONDO:0009234 "DOID:0111676" MONDO:0009234 "GARD:0002684" +MONDO:0009234 "ICD10CM:D68.8" MONDO:0009234 "OMIM:228960" -MONDO:0009234 "ICD10:D68.8" MONDO:0009234 "MESH:C537060" MONDO:0009234 "ICD9:286.9" NCBITaxon:12092 "GC_ID:1" @@ -46485,8 +45393,8 @@ MONDO:0010331 "OMIM:300464" MONDO:0012784 "OMIM:612016" MONDO:0012784 "UMLS:C4511089" MONDO:0012784 "SCTID:725394006" +MONDO:0012784 "ICD10CM:G11.1" MONDO:0012784 "GARD:0010294" -MONDO:0012784 "ICD10:G11.1" MONDO:0012784 "MESH:C567436" MONDO:0012784 "Orphanet:139485" MONDO:0012784 "DOID:0070241" @@ -46497,18 +45405,17 @@ MONDO:0020944 "UMLS:C0015405" MONDO:0020944 "SCTID:31194008" MONDO:0020944 "MESH:D015821" MONDO:0010708 "UMLS:C0796110" -MONDO:0010708 "ICD10:Q87.8" +MONDO:0010708 "ICD10CM:Q87.8" MONDO:0010708 "MESH:C538106" MONDO:0010708 "SCTID:719020006" MONDO:0010708 "Orphanet:2804" MONDO:0010708 "OMIM:311450" MONDO:0010708 "GARD:0000358" -MONDO:0019437 "ICD10:M08.8" MONDO:0019437 "GARD:0010969" MONDO:0019437 "Orphanet:85438" MONDO:0019437 "SCTID:410801005" MONDO:0019437 "NCIT:C119024" -MONDO:0044331 "ICD10:P72.2" +MONDO:0019437 "ICD10CM:M08.8" MONDO:0044331 "Orphanet:226316" MONDO:0024463 "OMIM:233300" MONDO:0024463 "DOID:0080493" @@ -46517,12 +45424,12 @@ MONDO:0024463 "Orphanet:243" CL:0000209 "FMA:67910" MONDO:0007993 "OMIM:156810" MONDO:0007993 "UMLS:C1834929" -MONDO:0007993 "ICD10:Q87.8" MONDO:0007993 "GARD:0003640" +MONDO:0007993 "ICD10CM:Q87.8" MONDO:0007993 "Orphanet:2538" MONDO:0007993 "MESH:C537554" MONDO:0016130 "Orphanet:207000" -MONDO:0016130 "ICD10:M60.0" +MONDO:0016130 "ICD10CM:M60.0" MONDO:0016130 "SCTID:240111007" MONDO:0016130 "UMLS:C0410251" MONDO:0010613 "SCTID:124322002" @@ -46530,7 +45437,6 @@ MONDO:0010613 "Orphanet:408" MONDO:0010613 "Orphanet:308993" MONDO:0010613 "DOID:0060363" MONDO:0010613 "OMIM:307030" -MONDO:0005220 "ICD10:C64" MONDO:0005220 "EFO:0003016" MONDO:0005220 "DOID:4464" MONDO:0005220 "MESH:D002292" @@ -46539,6 +45445,7 @@ MONDO:0005220 "GARD:0009573" MONDO:0005220 "UMLS:C1266044" MONDO:0005220 "NCIT:C6194" MONDO:0005220 "ONCOTREE:CDRCC" +MONDO:0005220 "ICD10CM:C64" MONDO:0005220 "ICDO:8319/3" NCBITaxon:6944 "GC_ID:1" MONDO:0009507 "OMIM:245550" @@ -46546,57 +45453,57 @@ MONDO:0009507 "Orphanet:1296" MONDO:0009507 "MESH:C538396" MONDO:0009507 "GARD:0003169" MONDO:0009507 "SCTID:732961003" -MONDO:0009507 "ICD10:Q87.8" MONDO:0009507 "UMLS:C1855551" +MONDO:0009507 "ICD10CM:Q87.8" MONDO:0008737 "OMIM:202400" +MONDO:0008737 "ICD10CM:D68.2" MONDO:0008737 "DOID:2236" MONDO:0008737 "GARD:0005761" MONDO:0008737 "SCTID:154818001" -MONDO:0008737 "ICD10:D68.2" MONDO:0008737 "Orphanet:98880" MONDO:0008737 "Orphanet:101041" MONDO:0008737 "Orphanet:335" MONDO:0008737 "NCIT:C98130" MONDO:0008737 "MESH:D000347" +MONDO:0011772 "ICD10CM:E77.8" +MONDO:0011772 "OMIM:607091" +MONDO:0011772 "UMLS:C2931009" +MONDO:0011772 "GARD:0009841" +MONDO:0011772 "SCTID:725587007" MONDO:0011772 "MESH:C535753" MONDO:0011772 "Orphanet:79332" -MONDO:0011772 "SCTID:725587007" -MONDO:0011772 "GARD:0009841" MONDO:0011772 "DOID:0070256" -MONDO:0011772 "OMIM:607091" -MONDO:0011772 "ICD10:E77.8" -MONDO:0011772 "UMLS:C2931009" MONDO:0019095 "MESH:D010930" -MONDO:0019095 "MedDRA:10035148" MONDO:0019095 "ICD9:136.8" +MONDO:0019095 "MedDRA:10035148" MONDO:0019095 "SCTID:58750007" -MONDO:0019095 "ICD10:A20.8" +MONDO:0019095 "ICD10CM:A20.7" MONDO:0019095 "MedDRA:10061416" +MONDO:0019095 "ICD10CM:A20.2" +MONDO:0019095 "ICD10CM:A20.9" MONDO:0019095 "Orphanet:707" MONDO:0019095 "MESH:D015009" -MONDO:0019095 "ICD10:A20" -MONDO:0019095 "ICD10:A20.9" -MONDO:0019095 "ICD10:A20.7" +MONDO:0019095 "ICD10CM:A20" MONDO:0019095 "ICD9:020" -MONDO:0019095 "ICD10:A20.2" -MONDO:0019095 "ICD10:A20.3" +MONDO:0019095 "ICD10CM:A20.0" +MONDO:0019095 "ICD10CM:A20.1" MONDO:0019095 "NCIT:C85015" -MONDO:0019095 "ICD10:A20.0" +MONDO:0019095 "ICD10CM:A20.3" MONDO:0019095 "UMLS:C0032064" MONDO:0019095 "DOID:3482" -MONDO:0019095 "ICD10:A20.1" +MONDO:0019095 "ICD10CM:A20.8" MONDO:0019095 "ICD9:020.9" NCBITaxon:32561 "GC_ID:1" MONDO:0017532 "UMLS:CN203263" MONDO:0017532 "Orphanet:295165" -MONDO:0017532 "ICD10:Q69.0" +MONDO:0017532 "ICD10CM:Q69.0" MONDO:0033551 "OMIM:618982" -MONDO:0015371 "ICD10:L90.8" MONDO:0015371 "Orphanet:140933" MONDO:0015371 "UMLS:C1274753" +MONDO:0015371 "ICD10CM:L90.8" MONDO:0015371 "SCTID:403395007" +MONDO:0019658 "ICD10CM:N04.3" MONDO:0019658 "Orphanet:93222" -MONDO:0019658 "ICD10:N04.3" MONDO:0019658 "UMLS:CN206531" MONDO:0012493 "OMIM:610439" MONDO:0012493 "GARD:0010271" @@ -46624,15 +45531,15 @@ MONDO:0003011 "DOID:4472" MONDO:0003011 "ICDO:0000/0" MONDO:0003011 "Orphanet:319322" MONDO:0003011 "ONCOTREE:MTSCC" +MONDO:0003011 "ICD10CM:C64" MONDO:0003011 "SCTID:764990003" MONDO:0003011 "UMLS:CN203939" MONDO:0003011 "UMLS:C1513719" MONDO:0003011 "NCIT:C39807" -MONDO:0003011 "ICD10:C64" HP:0001700 "UMLS:C1442837" HP:0001700 "SNOMEDCT_US:251061000" MONDO:0020390 "Orphanet:99049" -MONDO:0020390 "ICD10:Q25.7" +MONDO:0020390 "ICD10CM:Q25.7" MONDO:0060666 "UMLS:CN895589" MONDO:0060666 "OMIM:617915" MONDO:0022349 "SCTID:253143001" @@ -46644,24 +45551,24 @@ MONDO:0001136 "UMLS:C0156315" MONDO:0001136 "DOID:10835" MONDO:0001136 "ICD9:608.84" MONDO:0007039 "NCIT:C3274" +MONDO:0007039 "ICD10CM:Q85.02" MONDO:0007039 "GARD:0007193" MONDO:0007039 "SCTID:92503002" MONDO:0007039 "Orphanet:637" MONDO:0007039 "DOID:0111252" MONDO:0007039 "ICD9:237.72" -MONDO:0007039 "ICD10:Q85.02" -MONDO:0007039 "ICD10:Q85.0" MONDO:0007039 "MedDRA:10029271" MONDO:0007039 "MedDRA:10000523" +MONDO:0007039 "ICD10CM:Q85.0" MONDO:0007039 "OMIM:101000" MONDO:0007039 "UMLS:C0027832" MONDO:0021134 "NCIT:C131626" MONDO:0021134 "UMLS:C0272328" MONDO:0021134 "ICD9:286.9" MONDO:0021134 "SCTID:33820001" +MONDO:0016773 "ICD10CM:L43.8" MONDO:0016773 "NCIT:C34777" MONDO:0016773 "MedDRA:10056959" -MONDO:0016773 "ICD10:L43.8" MONDO:0016773 "SCTID:25858008" MONDO:0016773 "GARD:0012675" MONDO:0016773 "UMLS:C0023647" @@ -46670,20 +45577,19 @@ CL:0002254 "FMA:256159" MONDO:0018973 "MESH:C536309" MONDO:0018973 "GARD:0009821" MONDO:0018973 "Orphanet:63454" -MONDO:0018973 "ICD10:H35.5" +MONDO:0018973 "ICD10CM:H35.5" MONDO:0018973 "UMLS:C1868569" MONDO:0012680 "Orphanet:655" MONDO:0012680 "MESH:C566930" MONDO:0012680 "OMIM:611498" MONDO:0012680 "UMLS:C1969092" MONDO:0012680 "DOID:0111116" +MONDO:0015668 "ICD10CM:K00.5" MONDO:0015668 "Orphanet:167759" -MONDO:0015668 "ICD10:K00.5" MONDO:0060593 "OMIM:617749" MONDO:0014533 "DOID:0080452" MONDO:0014533 "UMLS:C4015519" MONDO:0014533 "OMIM:616211" -MONDO:0007908 "ICD10:E88.8" MONDO:0007908 "DOID:14116" MONDO:0007908 "GARD:0006957" MONDO:0007908 "OMIM:151800" @@ -46691,20 +45597,20 @@ MONDO:0007908 "UMLS:C0023804" MONDO:0007908 "UMLS:CN201658" MONDO:0007908 "UMLS:C0024445" MONDO:0007908 "SCTID:238902007" +MONDO:0007908 "ICD10CM:E88.8" MONDO:0007908 "NCIT:C4392" MONDO:0007908 "EFO:1000737" MONDO:0007908 "Orphanet:2398" NCBITaxon:35493 "GC_ID:1" MONDO:0000940 "MESH:D014352" +MONDO:0000940 "ICD10CM:B56" MONDO:0000940 "UMLS:C0041227" MONDO:0000940 "ICD9:086.9" MONDO:0000940 "SCTID:78940002" MONDO:0000940 "ICD9:086" MONDO:0000940 "DOID:10113" -MONDO:0000940 "ICD10:B57.2" -MONDO:0000940 "ICD10:B56" +MONDO:0016610 "ICD10CM:M60.8" MONDO:0016610 "Orphanet:247724" -MONDO:0016610 "ICD10:M60.8" MONDO:0021337 "NCIT:C4825" MONDO:0021337 "SCTID:274085008" MONDO:0021337 "UMLS:C0558355" @@ -46714,10 +45620,10 @@ MONDO:0004325 "NCIT:C39952" MONDO:0004325 "DOID:7676" MONDO:0004325 "UMLS:C1515299" MONDO:0021513 "ICD9:210.5" -MONDO:0021513 "ICD10:D10.4" MONDO:0021513 "NCIT:C3594" MONDO:0021513 "SCTID:92263001" MONDO:0021513 "UMLS:C0153936" +MONDO:0021513 "ICD10CM:D10.4" MONDO:0003651 "UMLS:C1334543" MONDO:0003651 "NCIT:C7095" MONDO:0003651 "DOID:5798" @@ -46730,21 +45636,22 @@ MONDO:0011416 "UMLS:C1858672" MONDO:0011416 "DOID:0111302" MONDO:0011416 "Orphanet:36387" MONDO:0010110 "GARD:0000386" +MONDO:0010110 "OMIM:273395" MONDO:0010110 "SCTID:716249009" -MONDO:0010110 "ICD10:Q87.8" +MONDO:0010110 "ICD10CM:Q87.8" MONDO:0010110 "Orphanet:3301" MONDO:0010110 "UMLS:C2931218" MONDO:0010110 "MESH:C536500" MONDO:0020765 "OMIM:618184" +MONDO:0022778 "GARD:0001380" MONDO:0012989 "MESH:C567198" MONDO:0012989 "DOID:0070278" MONDO:0012989 "Orphanet:2512" MONDO:0012989 "OMIM:612703" MONDO:0012989 "UMLS:C2675187" -MONDO:0022778 "GARD:0001380" MONDO:0009469 "UMLS:C0268312" MONDO:0009469 "Orphanet:99960" -MONDO:0009469 "ICD10:K83.1" +MONDO:0009469 "ICD10CM:K83.1" MONDO:0009469 "DOID:0070231" MONDO:0009469 "Orphanet:65682" MONDO:0009469 "GARD:0010028" @@ -46755,16 +45662,16 @@ MONDO:0004512 "UMLS:C1266114" MONDO:0004512 "NCIT:C6891" MONDO:0001522 "MESH:D005391" MONDO:0001522 "NCIT:C94334" -MONDO:0001522 "ICD10:F63.1" MONDO:0001522 "ICD9:312.33" +MONDO:0001522 "ICD10CM:F63.1" MONDO:0001522 "SCTID:600009" MONDO:0001522 "DOID:12402" MONDO:0007772 "Orphanet:88938" MONDO:0007772 "UMLS:C1840389" MONDO:0007772 "UMLS:C1449844" -MONDO:0007772 "ICD10:I15.1" MONDO:0007772 "Orphanet:757" MONDO:0007772 "OMIM:145260" +MONDO:0007772 "ICD10CM:I15.1" MONDO:0007772 "SCTID:703254001" MONDO:0007425 "MESH:C565120" MONDO:0007425 "UMLS:C1852280" @@ -46784,8 +45691,8 @@ NCBITaxon:314146 "PMID:15522813" MONDO:0020670 "GARD:0010182" MONDO:0020670 "MESH:C537779" MONDO:0011551 "UMLS:C2673535" +MONDO:0011551 "ICD10CM:G24.1" MONDO:0011551 "SCTID:715827001" -MONDO:0011551 "ICD10:G24.1" MONDO:0011551 "GARD:0001902" MONDO:0011551 "OMIM:605407" MONDO:0011551 "Orphanet:101150" @@ -46794,8 +45701,8 @@ NCBITaxon:11653 "GC_ID:1" MONDO:0010802 "OMIM:600001" MONDO:0010802 "DOID:0111733" MONDO:0010802 "GARD:0000347" +MONDO:0010802 "ICD10CM:Q87.8" MONDO:0010802 "MESH:C564011" -MONDO:0010802 "ICD10:Q87.8" MONDO:0010802 "Orphanet:2255" MONDO:0010802 "SCTID:722206009" MONDO:0008590 "DOID:0111428" @@ -46805,7 +45712,6 @@ MONDO:0008590 "UMLS:C1860861" MONDO:0008590 "MESH:C536545" MONDO:0004170 "SCTID:70558001" MONDO:0004170 "UMLS:C0155352" -MONDO:0004170 "ICD10:H15.12" MONDO:0004170 "ICD9:379.02" MONDO:0004170 "DOID:728" MONDO:0007393 "MESH:C565147" @@ -46815,7 +45721,7 @@ MONDO:0007393 "Orphanet:1339" MONDO:0008457 "DOID:0050956" MONDO:0008457 "NCIT:C142838" MONDO:0008457 "OMIM:183086" -MONDO:0008457 "ICD10:G11.2" +MONDO:0008457 "ICD10CM:G11.2" MONDO:0008457 "Orphanet:98758" MONDO:0008457 "GARD:0010351" MONDO:0008457 "SCTID:715752006" @@ -46826,8 +45732,8 @@ MONDO:0012296 "OMIM:609537" MONDO:0012296 "SCTID:104431000119107" MONDO:0012296 "MESH:C537030" MONDO:0012296 "GARD:0010053" +MONDO:0012296 "ICD10CM:Q05.9" MONDO:0012296 "ICD9:214.8" -MONDO:0012296 "ICD10:Q05.9" MONDO:0013483 "OMIM:613886" MONDO:0013483 "MESH:C563938" MONDO:0013483 "UMLS:C3151303" @@ -46836,7 +45742,7 @@ MONDO:0014125 "Orphanet:3250" MONDO:0014125 "UMLS:C3809104" MONDO:0056802 "UMLS:C0263946" MONDO:0056802 "SCTID:10597006" -MONDO:0019847 "ICD10:E27.1" +MONDO:0019847 "ICD10CM:E27.1" MONDO:0019847 "Orphanet:95701" MONDO:0011187 "MESH:C566585" MONDO:0011187 "UMLS:C1865883" @@ -46845,8 +45751,6 @@ MONDO:0011187 "Orphanet:93334" MONDO:0001067 "ICD9:102.6" MONDO:0001067 "SCTID:23191004" MONDO:0001067 "DOID:10568" -MONDO:0001067 "ICD10:A66.0" -MONDO:0001067 "ICD10:A66.6" MONDO:0001067 "ICD9:102.2" MONDO:0001067 "ICD9:102.0" MONDO:0001067 "NCIT:C41352" @@ -46892,11 +45796,10 @@ MONDO:0005315 "MESH:D050723" MONDO:0005315 "NCIT:C3046" MONDO:0005315 "SCTID:125605004" MONDO:0005315 "EFO:0003931" +MONDO:0005315 "ICD10CM:M97-M97" MONDO:0014768 "UMLS:C4225211" -MONDO:0014768 "ICD10:F01.1" MONDO:0014768 "OMIM:616779" MONDO:0014768 "DOID:0111036" -MONDO:0012354 "ICD10:D69.8" MONDO:0012354 "MESH:C565220" MONDO:0012354 "Orphanet:36355" MONDO:0012354 "SCTID:725291001" @@ -46904,12 +45807,13 @@ MONDO:0012354 "UMLS:C1853278" MONDO:0012354 "OMIM:609821" MONDO:0012354 "GARD:0012478" MONDO:0012354 "DOID:0060692" +MONDO:0012354 "ICD10CM:D69.8" MONDO:0010418 "UMLS:C2677897" MONDO:0010418 "MESH:C567465" MONDO:0010418 "SCTID:763370008" +MONDO:0010418 "ICD10CM:G11.4" MONDO:0010418 "OMIM:300750" MONDO:0010418 "Orphanet:171607" -MONDO:0010418 "ICD10:G11.4" MONDO:0010418 "DOID:0110785" MONDO:0005729 "ICD9:121.8" MONDO:0005729 "UMLS:C0012102" @@ -46918,21 +45822,20 @@ MONDO:0005729 "SCTID:105668007" MONDO:0005729 "UMLS:C1737210" MONDO:0005729 "EFO:0007234" MONDO:0005729 "DOID:1219" -MONDO:0005729 "ICD10:B66.2" MONDO:0015518 "GARD:0005040" MONDO:0015518 "SCTID:718174008" +MONDO:0015518 "ICD10CM:G23.2" MONDO:0015518 "UMLS:C0795996" MONDO:0015518 "OMIM:271930" MONDO:0015518 "Orphanet:1576" MONDO:0015518 "OMIM:500003" -MONDO:0015518 "ICD10:G23.2" MONDO:0037744 "SCTID:126804008" MONDO:0037744 "UMLS:C0345590" MONDO:0018114 "OMIM:615314" -MONDO:0018114 "ICD10:Q75.0" MONDO:0018114 "OMIM:616602" MONDO:0018114 "OMIM:123100" MONDO:0018114 "Orphanet:35099" +MONDO:0018114 "ICD10CM:Q75.0" MONDO:0043377 "NCIT:C114347" MONDO:0043377 "SCTID:239806000" MONDO:0043377 "UMLS:C0409676" @@ -46955,13 +45858,11 @@ MONDO:0013756 "UMLS:C3280800" MONDO:0021339 "NCIT:C8394" MONDO:0021339 "SCTID:254434008" MONDO:0021339 "UMLS:C0345550" -MONDO:0015176 "ICD10:K52.3" MONDO:0015176 "Orphanet:103920" MONDO:0021515 "SCTID:92093000" MONDO:0021515 "UMLS:C0345670" MONDO:0021515 "NCIT:C4417" MONDO:0021515 "ICD9:212.0" -MONDO:0016122 "ICD10:G72.3" MONDO:0016122 "UMLS:C1279412" MONDO:0016122 "HP:0003768" MONDO:0016122 "Orphanet:206976" @@ -46982,8 +45883,8 @@ MONDO:0008236 "OMIM:171450" MONDO:0008236 "UMLS:C1868391" MONDO:0008236 "MESH:C566806" MONDO:0017355 "UMLS:CN227118" +MONDO:0017355 "ICD10CM:E72.8" MONDO:0017355 "Orphanet:289866" -MONDO:0017355 "ICD10:E72.8" MONDO:0005246 "ICD9:730.20" MONDO:0005246 "ICD9:730.96" MONDO:0005246 "ICD9:730.0" @@ -47004,7 +45905,6 @@ MONDO:0005246 "ICD9:730.28" MONDO:0005246 "ICD9:730.01" MONDO:0005246 "ICD9:730.93" MONDO:0005246 "DOID:1019" -MONDO:0018301 "ICD10:N30.1" MONDO:0018301 "UMLS:C0600040" MONDO:0018301 "NCIT:C27189" MONDO:0018301 "MESH:D018856" @@ -47026,28 +45926,28 @@ MONDO:0020767 "SCTID:12454008" MONDO:0020767 "UMLS:C0007459" MONDO:0020767 "ICD9:344.61" MONDO:0017563 "Orphanet:295237" -MONDO:0017563 "ICD10:Q74.1" +MONDO:0017563 "ICD10CM:Q74.1" MONDO:0002057 "NCIT:C40399" MONDO:0002057 "UMLS:C1511317" MONDO:0002057 "DOID:1623" MONDO:0019993 "SCTID:271432005" -MONDO:0019993 "ICD10:Q27.1" MONDO:0019993 "Orphanet:97598" +MONDO:0019993 "ICD10CM:Q27.1" MONDO:0000745 "MESH:D006323" MONDO:0000745 "UMLS:C0018790" MONDO:0000745 "ICD9:427.5" -MONDO:0000745 "ICD10:I46" MONDO:0000745 "UMLS:C0444720" MONDO:0000745 "SCTID:410429000" MONDO:0000745 "NCIT:C50479" MONDO:0000745 "NCIT:C50483" +MONDO:0000745 "ICD10CM:I46" MONDO:0000745 "DOID:0060319" MONDO:0011811 "UMLS:C1846492" MONDO:0011811 "Orphanet:95434" MONDO:0011811 "DOID:0111611" MONDO:0011811 "OMIM:607317" +MONDO:0011811 "ICD10CM:G11.1" MONDO:0011811 "MESH:C537310" -MONDO:0011811 "ICD10:G11.1" MONDO:0011811 "GARD:0004952" MONDO:0006160 "UMLS:C3272801" MONDO:0006160 "EFO:1000193" @@ -47057,18 +45957,18 @@ MONDO:0018796 "Orphanet:477797" MONDO:0009677 "GARD:0002429" MONDO:0009677 "Orphanet:353" MONDO:0009677 "UMLS:C0410173" -MONDO:0009677 "ICD10:G71.0" +MONDO:0009677 "ICD10CM:G71.0" MONDO:0009677 "DOID:0110277" MONDO:0009677 "MESH:C535900" MONDO:0009677 "OMIM:253700" MONDO:0006687 "EFO:1000850" MONDO:0006687 "MedDRA:10068065" MONDO:0006687 "UMLS:C2930806" +MONDO:0006687 "ICD10CM:K14.6" MONDO:0006687 "GARD:0005974" MONDO:0006687 "DOID:4331" MONDO:0006687 "UMLS:C0006430" MONDO:0006687 "SCTID:399165002" -MONDO:0006687 "ICD10:K14.6" MONDO:0006687 "MESH:D002054" MONDO:0006687 "Orphanet:353253" MONDO:0006687 "UMLS:CN242089" @@ -47086,13 +45986,13 @@ HP:0001336 "UMLS:C0027066" HP:0001336 "MSH:D009207" HP:0001336 "SNOMEDCT_US:127324008" MONDO:0014243 "MESH:C535385" +MONDO:0014243 "ICD10CM:Q87.1" MONDO:0014243 "GARD:0013316" MONDO:0014243 "OMIM:615547" MONDO:0014243 "Orphanet:398069" MONDO:0014243 "UMLS:C3809877" MONDO:0014243 "OMIM:208080" MONDO:0014243 "UMLS:C1859724" -MONDO:0014243 "ICD10:Q87.1" MONDO:0014243 "GARD:0010087" MONDO:0014243 "Orphanet:739" CL:0002246 "BTO:0002669" @@ -47106,14 +46006,14 @@ MONDO:0004031 "DOID:6898" MONDO:0004031 "ONCOTREE:MXOV" MONDO:0016226 "UMLS:CN200992" MONDO:0016226 "Orphanet:211053" -MONDO:0017784 "ICD10:C16.2" -MONDO:0017784 "ICD10:C16.0" +MONDO:0017784 "ICD10CM:C16.2" MONDO:0017784 "UMLS:CN203734" MONDO:0017784 "SCTID:716586009" MONDO:0017784 "Orphanet:313920" -MONDO:0008622 "ICD10:Q82.4" +MONDO:0017784 "ICD10CM:C16.0" MONDO:0008622 "OMIM:191482" MONDO:0008622 "Orphanet:1264" +MONDO:0008622 "ICD10CM:Q82.4" MONDO:0008622 "SCTID:719910004" MONDO:0008622 "UMLS:C1860605" MONDO:0008622 "GARD:0000938" @@ -47127,16 +46027,16 @@ MONDO:0006874 "UMLS:C0022354" MONDO:0006874 "NCIT:C34742" MONDO:0018295 "Orphanet:371212" MONDO:0016983 "UMLS:C3715128" -MONDO:0016983 "ICD10:E26.8" MONDO:0016983 "Orphanet:263417" MONDO:0016983 "OMIM:601198" +MONDO:0016983 "ICD10CM:E26.8" MONDO:0011408 "OMIM:604187" MONDO:0011408 "MESH:C537482" MONDO:0011408 "SCTID:732948003" MONDO:0011408 "GARD:0009590" MONDO:0011408 "UMLS:C1858712" MONDO:0011408 "Orphanet:100991" -MONDO:0011408 "ICD10:G11.4" +MONDO:0011408 "ICD10CM:G11.4" MONDO:0011408 "UMLS:C4518536" MONDO:0011408 "DOID:0110763" MONDO:0000816 "UMLS:C2930930" @@ -47147,12 +46047,12 @@ MONDO:0013608 "DOID:0110982" MONDO:0013608 "UMLS:C3280031" MONDO:0013608 "Orphanet:475" MONDO:0013608 "OMIM:614173" -MONDO:0016812 "ICD10:G24.8" MONDO:0016812 "NCIT:C116719" MONDO:0016812 "SCTID:230332007" MONDO:0016812 "GARD:0009817" MONDO:0016812 "UMLS:C1851920" MONDO:0016812 "Orphanet:255" +MONDO:0016812 "ICD10CM:G24.8" MONDO:0016812 "MESH:C538007" MONDO:0020475 "UMLS:CN207344" MONDO:0020475 "Orphanet:99688" @@ -47170,24 +46070,24 @@ MONDO:0008926 "OMIM:214150" MONDO:0008926 "UMLS:C0220722" MONDO:0008926 "Orphanet:1466" MONDO:0008926 "NCIT:C3817" +MONDO:0008926 "ICD10CM:Q87.1" MONDO:0008926 "OMIM:278780" MONDO:0008926 "OMIMPS:214150" MONDO:0008926 "OMIM:610756" MONDO:0008926 "OMIM:616570" MONDO:0008926 "OMIM:610758" MONDO:0008926 "GARD:0006027" -MONDO:0008926 "ICD10:Q87.1" MONDO:0044239 "OMIM:155150" -MONDO:0012589 "GARD:0004372" +MONDO:0012589 "ICD10CM:Q87.0" MONDO:0012589 "UMLS:C1970431" -MONDO:0012589 "Orphanet:2896" -MONDO:0012589 "NCIT:C129872" -MONDO:0012589 "OMIM:610954" MONDO:0012589 "MESH:C537403" -MONDO:0012589 "ICD9:758.5" -MONDO:0012589 "SCTID:702344008" MONDO:0012589 "DOID:0060488" -MONDO:0012589 "ICD10:Q87.0" +MONDO:0012589 "OMIM:610954" +MONDO:0012589 "NCIT:C129872" +MONDO:0012589 "SCTID:702344008" +MONDO:0012589 "Orphanet:2896" +MONDO:0012589 "GARD:0004372" +MONDO:0012589 "ICD9:758.5" MONDO:0013535 "UMLS:C3279657" MONDO:0013535 "OMIM:614033" MONDO:0013535 "MESH:C564215" @@ -47197,7 +46097,7 @@ MONDO:0033135 "OMIM:618279" MONDO:0010004 "SCTID:39788007" MONDO:0010004 "Orphanet:1896" MONDO:0010004 "GARD:0002076" -MONDO:0010004 "ICD10:Q82.4" +MONDO:0010004 "ICD10CM:Q82.4" MONDO:0010004 "MESH:C536189" MONDO:0010004 "NCIT:C148261" MONDO:0010004 "OMIM:129900" @@ -47214,12 +46114,11 @@ MONDO:0012849 "DOID:0111004" MONDO:0012849 "UMLS:C2676788" MONDO:0015800 "Orphanet:178377" MONDO:0015800 "SCTID:722117000" -MONDO:0015800 "ICD10:Q75.8" +MONDO:0015800 "ICD10CM:Q75.8" MONDO:0015800 "UMLS:CN200391" MONDO:0001021 "SCTID:90927000" MONDO:0001021 "UMLS:C0152190" MONDO:0001021 "DOID:10377" -MONDO:0001021 "ICD10:H53.02" MONDO:0001021 "ICD9:368.03" MONDO:0004538 "DOID:8340" MONDO:0004538 "UMLS:C1516421" @@ -47242,6 +46141,7 @@ MONDO:0018681 "Orphanet:453499" MONDO:0018681 "UMLS:CN237747" MONDO:0018681 "OMIM:616580" MONDO:0009562 "GARD:0000869" +MONDO:0009562 "ICD10CM:E77.1" MONDO:0009562 "UMLS:C4048196" MONDO:0009562 "NCIT:C84596" MONDO:0009562 "DOID:3633" @@ -47250,15 +46150,14 @@ MONDO:0009562 "SCTID:238047006" MONDO:0009562 "OMIM:248510" MONDO:0009562 "ICD9:271.8" MONDO:0009562 "MESH:D044905" -MONDO:0009562 "ICD10:E77.1" +MONDO:0008792 "ICD10CM:D17.9" MONDO:0008792 "Orphanet:199279" -MONDO:0008792 "ICD10:D17.9" MONDO:0008792 "OMIM:206550" MONDO:0008792 "MESH:C565951" MONDO:0008792 "UMLS:C1859784" MONDO:0014117 "UMLS:C3695063" MONDO:0014117 "SCTID:763345008" -MONDO:0014117 "ICD10:G60.0" +MONDO:0014117 "ICD10CM:G60.0" MONDO:0014117 "Orphanet:363981" MONDO:0014117 "OMIM:615284" MONDO:0014117 "DOID:0110194" @@ -47269,62 +46168,59 @@ MONDO:0002462 "NCIT:C26784" MONDO:0002462 "SCTID:36171008" MONDO:0002462 "GARD:0006516" MONDO:0002462 "DOID:2921" -MONDO:0002462 "ICD10:N05" MONDO:0002462 "HP:0000099" -MONDO:0002462 "ICD10:N08" MONDO:0001692 "ICD9:302.2" +MONDO:0001692 "ICD10CM:F65.4" MONDO:0001692 "MESH:D010378" -MONDO:0001692 "ICD10:F65.4" MONDO:0001692 "DOID:13351" MONDO:0001692 "NCIT:C94355" MONDO:0001692 "SCTID:84002002" MONDO:0007595 "MESH:C565025" MONDO:0007595 "OMIM:134430" MONDO:0007595 "UMLS:C1851377" +MONDO:0005979 "ICD10CM:G54.0" MONDO:0005979 "Orphanet:97330" MONDO:0005979 "EFO:0007507" MONDO:0005979 "MESH:D013901" MONDO:0005979 "SCTID:2040007" MONDO:0005979 "DOID:3103" MONDO:0005979 "UMLS:C0039984" -MONDO:0005979 "ICD10:G54.0" MONDO:0005979 "SCTID:128210009" MONDO:0005979 "MedDRA:10048627" MONDO:0005979 "NCIT:C85188" MONDO:0000524 "DOID:0050907" +MONDO:0005181 "DOID:12558" MONDO:0005181 "HP:0000590" MONDO:0005181 "MESH:D017246" -MONDO:0005181 "ICD10:H49.4" MONDO:0005181 "Orphanet:520820" +MONDO:0005181 "ICD10CM:H49.4" MONDO:0005181 "ICD9:378.72" MONDO:0005181 "SCTID:46252003" -MONDO:0005181 "DOID:12558" MONDO:0005181 "GARD:0004503" MONDO:0005181 "EFO:0002509" MONDO:0004892 "MESH:D012030" MONDO:0004892 "SCTID:39021009" MONDO:0004892 "DOID:9835" -MONDO:0004892 "ICD10:H52.7" MONDO:0004892 "NCIT:C87145" +MONDO:0004892 "ICD10CM:H49-H52" CL:0000568 "FMA:83114" CL:0000568 "BTO:0003866" NCBITaxon:6936 "GC_ID:1" -MONDO:0036511 "UMLS:C4086162" -MONDO:0036511 "NCIT:C123907" MONDO:0013921 "OMIM:614850" MONDO:0013921 "Orphanet:1930" +MONDO:0036511 "UMLS:C4086162" +MONDO:0036511 "NCIT:C123907" MONDO:0032794 "OMIM:618513" MONDO:0024268 "ICD9:117.9" MONDO:0024268 "SCTID:402135006" MONDO:0024268 "MESH:D010854" MONDO:0024268 "UMLS:C0031898" -MONDO:0024268 "ICD10:B36.9" MONDO:0024268 "DOID:0050133" MONDO:0024268 "UMLS:C2980104" MONDO:0024268 "SCTID:276206000" MONDO:0015037 "UMLS:C4274991" +MONDO:0015037 "ICD10CM:Q04.3" MONDO:0015037 "Orphanet:100014" -MONDO:0015037 "ICD10:Q04.3" MONDO:0015037 "UMLS:CN228903" MONDO:0015037 "SCTID:715821000" MONDO:0005025 "MESH:D004696" @@ -47334,7 +46230,6 @@ MONDO:0005025 "DOID:10314" MONDO:0005025 "ICD9:421.9" MONDO:0005025 "NCIT:C34582" MONDO:0005025 "EFO:0000465" -MONDO:0005025 "ICD10:I33.9" MONDO:0005025 "SCTID:56819008" MONDO:0000680 "HP:0010527" MONDO:0000680 "DOID:0060150" @@ -47347,15 +46242,14 @@ MONDO:0006583 "NCIT:C34840" MONDO:0006583 "SCTID:9418005" MONDO:0006583 "UMLS:C0027538" MONDO:0006583 "MESH:D009335" -MONDO:0006583 "ICD10:L92.1" MONDO:0017216 "SCTID:717043006" +MONDO:0017216 "ICD10CM:E83.5" MONDO:0017216 "Orphanet:280065" -MONDO:0017216 "ICD10:E83.5" MONDO:0017216 "UMLS:C4274083" MONDO:0008401 "EFO:1000384" MONDO:0008401 "OMIM:181030" -MONDO:0008401 "ICD10:D11.0" MONDO:0008401 "ICDO:8940/0" +MONDO:0008401 "ICD10CM:D11.0" MONDO:0008401 "DOID:452" MONDO:0008401 "Orphanet:454821" MONDO:0008401 "NCIT:C8602" @@ -47368,10 +46262,10 @@ MONDO:0014338 "Orphanet:238569" MONDO:0012064 "Orphanet:1200" MONDO:0012064 "OMIM:616462" MONDO:0012064 "UMLS:C1835913" +MONDO:0012064 "ICD10CM:Q87.8" MONDO:0012064 "MESH:C563682" MONDO:0012064 "GARD:0010041" MONDO:0012064 "OMIM:608572" -MONDO:0012064 "ICD10:Q87.8" CL:0000067 "FMA:70605" MONDO:0021808 "GARD:0009394" MONDO:0021808 "UMLS:C2930973" @@ -47379,7 +46273,6 @@ MONDO:0021808 "MESH:C535672" MONDO:0000747 "ICD9:553.1" MONDO:0000747 "NCIT:C118375" MONDO:0000747 "ICD9:756.72" -MONDO:0000747 "ICD10:Q79.2" MONDO:0000747 "MESH:D006554" MONDO:0000747 "SCTID:396347007" MONDO:0000747 "DOID:0060321" @@ -47390,10 +46283,10 @@ MONDO:0011813 "Orphanet:93334" MONDO:0011813 "MESH:C564590" MONDO:0011813 "OMIM:607324" MONDO:0017973 "Orphanet:325529" -MONDO:0017973 "ICD10:E25.0" +MONDO:0017973 "ICD10CM:E25.0" MONDO:0019596 "Orphanet:90787" MONDO:0019596 "UMLS:CN227658" -MONDO:0019596 "ICD10:E29.1" +MONDO:0019596 "ICD10CM:E29.1" MONDO:0009937 "NCIT:C85039" MONDO:0009937 "Orphanet:31837" MONDO:0009937 "MESH:D011668" @@ -47416,19 +46309,19 @@ MONDO:0009842 "OMIM:260570" HP:0000598 "UMLS:C0266589" HP:0000598 "SNOMEDCT_US:275259005" MONDO:0015403 "SCTID:703295003" +MONDO:0015403 "ICD10CM:D18.0" MONDO:0015403 "Orphanet:141179" MONDO:0015403 "UMLS:C1275417" -MONDO:0015403 "ICD10:D18.0" MONDO:0015403 "GARD:0010890" MONDO:0017856 "Orphanet:3175" -MONDO:0017856 "ICD10:G25.3" MONDO:0017856 "OMIM:308350" +MONDO:0017856 "ICD10CM:G25.3" MONDO:0017856 "UMLS:CN203866" MONDO:0004317 "NCIT:C5275" MONDO:0004317 "UMLS:C1334825" MONDO:0004317 "DOID:7646" MONDO:0001327 "ICD9:618.83" -MONDO:0001327 "ICD10:N81.84" +MONDO:0001327 "ICD10CM:N81.84" MONDO:0001327 "DOID:11629" MONDO:0007070 "ICD9:272.8" MONDO:0007070 "NCIT:C84540" @@ -47438,19 +46331,19 @@ MONDO:0007070 "Wikipedia:Adiposis_dolorosa" MONDO:0007070 "Orphanet:36397" MONDO:0007070 "OMIM:103200" MONDO:0007070 "SCTID:71404003" -MONDO:0007070 "ICD10:E88.2" +MONDO:0007070 "ICD10CM:E88.2" MONDO:0007070 "GARD:0005750" MONDO:0007070 "UMLS:C0001529" MONDO:0007070 "EFO:1000667" MONDO:0007070 "MESH:D000274" MONDO:0009196 "UMLS:C0268501" MONDO:0009196 "GARD:0000407" -MONDO:0009196 "ICD10:E70.3" MONDO:0009196 "UMLS:C1856899" MONDO:0009196 "SCTID:10170007" MONDO:0009196 "OMIM:227010" MONDO:0009196 "MESH:C562663" MONDO:0009196 "MEDGEN:82812" +MONDO:0009196 "ICD10CM:E70.3" MONDO:0009196 "Orphanet:999" MONDO:0009196 "ICD9:270.2" MONDO:0009196 "MESH:C535508" @@ -47463,33 +46356,33 @@ MONDO:0008395 "Orphanet:3121" MONDO:0008395 "SCTID:3073006" MONDO:0008395 "GARD:0004748" MONDO:0008395 "MESH:C579395" -MONDO:0008395 "ICD10:Q87.8" +MONDO:0008395 "ICD10CM:Q87.8" MONDO:0008395 "ICD9:759.89" MONDO:0008395 "UMLS:C0265248" MONDO:0008395 "OMIM:180870" MONDO:0018460 "GARD:0006309" MONDO:0018460 "Orphanet:40923" -MONDO:0018460 "ICD10:H35.0" MONDO:0018460 "SCTID:54122009" +MONDO:0018460 "ICD10CM:H35.0" MONDO:0018460 "MedDRA:10057429" MONDO:0018460 "UMLS:C0271073" MONDO:0018460 "MESH:C538011" CL:0000453 "CALOHA:TS-2375" CL:0000453 "BTO:0000705" CL:0000453 "FMA:63072" +MONDO:0016844 "ICD10CM:Q92.2" MONDO:0016844 "GARD:0005333" MONDO:0016844 "MESH:C535371" MONDO:0016844 "SCTID:111311004" MONDO:0016844 "Orphanet:261318" MONDO:0016844 "ICD9:758.5" -MONDO:0016844 "ICD10:Q92.2" CL:1000504 "KUPO:0001017" MONDO:0007198 "Orphanet:1253" MONDO:0007198 "OMIM:109900" MONDO:0007198 "GARD:0000201" MONDO:0007198 "MESH:C562742" -MONDO:0007198 "ICD10:Q87.0" MONDO:0007198 "ICD9:374.89" +MONDO:0007198 "ICD10CM:Q87.0" MONDO:0007198 "SCTID:28599006" MONDO:0007198 "ICD9:246.8" MONDO:0007198 "UMLS:C0339085" @@ -47498,12 +46391,12 @@ MONDO:0014087 "Orphanet:178355" MONDO:0014087 "OMIM:615222" MONDO:0014087 "UMLS:C3714896" MONDO:0020336 "OMIM:614302" +MONDO:0020336 "ICD10CM:G71.0" MONDO:0020336 "OMIM:612998" MONDO:0020336 "OMIM:612999" MONDO:0020336 "UMLS:C0410190" MONDO:0020336 "Orphanet:98853" MONDO:0020336 "OMIM:181350" -MONDO:0020336 "ICD10:G71.0" MONDO:0020336 "GARD:0002101" MONDO:0005758 "NCIT:C131195" MONDO:0005758 "SCTID:267403002" @@ -47525,8 +46418,8 @@ MONDO:0002768 "NCIT:C85207" MONDO:0002768 "SCTID:237821001" MONDO:0001514 "ICD9:599.5" MONDO:0001514 "DOID:12369" -MONDO:0001514 "ICD10:N81.0" MONDO:0001514 "ICD9:618.03" +MONDO:0001514 "ICD10CM:N81.0" MONDO:0001514 "NCIT:C123256" MONDO:0001514 "SCTID:12068006" MONDO:0001514 "UMLS:C0238502" @@ -47542,9 +46435,7 @@ MONDO:0100345 "ICD9:271.3" MONDO:0100345 "OMIM:223100" MONDO:0100345 "NCIT:C3154" MONDO:0100345 "SCTID:267425008" -MONDO:0100345 "ICD10:E73" MONDO:0100345 "Orphanet:319681" -MONDO:0100345 "ICD10:E73.9" MONDO:0100345 "EFO:1000062" MONDO:0100345 "HP:0004789" HP:0002105 "SNOMEDCT_US:66857006" @@ -47552,35 +46443,34 @@ HP:0002105 "UMLS:C0019079" HP:0002105 "SNOMEDCT_US:6686005" HP:0002105 "MSH:D006469" MONDO:0017589 "Orphanet:300552" -MONDO:0019145 "ICD10:D68.2" MONDO:0019145 "MESH:C535424" MONDO:0019145 "OMIM:176860" MONDO:0019145 "NCIT:C99025" MONDO:0019145 "OMIM:612304" MONDO:0019145 "DOID:3756" MONDO:0019145 "Orphanet:745" +MONDO:0019145 "ICD10CM:D68.2" MONDO:0019145 "MESH:D020151" -MONDO:0019145 "ICD10:D68.59" MONDO:0019145 "SCTID:76407009" MONDO:0013700 "SCTID:78960005" MONDO:0013700 "Orphanet:309031" MONDO:0013700 "UMLS:C0268241" -MONDO:0013700 "ICD10:K90.3" MONDO:0013700 "OMIM:614338" MONDO:0013700 "Orphanet:309111" MONDO:0013700 "UMLS:C0268240" MONDO:0013700 "ICD9:277.89" MONDO:0013700 "Orphanet:309108" MONDO:0013700 "NCIT:C129030" +MONDO:0013700 "ICD10CM:K90.3" +MONDO:0019321 "ICD10CM:E34.8" MONDO:0019321 "GARD:0011910" MONDO:0019321 "UMLS:CN205977" -MONDO:0019321 "ICD10:E34.8" MONDO:0019321 "SCTID:715633008" MONDO:0019321 "Orphanet:79474" MONDO:0019321 "UMLS:C4275075" MONDO:0019407 "OMIM:618150" MONDO:0019407 "Orphanet:85172" -MONDO:0019407 "ICD10:Q78.8" +MONDO:0019407 "ICD10CM:Q78.8" MONDO:0019407 "DOID:0111673" MONDO:0030323 "OMIM:619422" MONDO:0006186 "DOID:10816" @@ -47596,20 +46486,19 @@ HP:0001367 "SNOMEDCT_US:399269003" MONDO:0006362 "SCTID:109853004" MONDO:0006362 "NCIT:C7633" MONDO:0006362 "EFO:1000467" -MONDO:0006362 "ICD10:C45.1" MONDO:0006362 "ONCOTREE:PEMESO" MONDO:0006362 "HP:0100003" MONDO:0006015 "Orphanet:100067" MONDO:0006015 "SCTID:36102002" MONDO:0006015 "MedDRA:10047847" -MONDO:0006015 "ICD10:A39.1" -MONDO:0006015 "ICD10:A39.1+" -MONDO:0006015 "ICD10:E35.1*" +MONDO:0006015 "ICD10CM:A39.1" +MONDO:0006015 "ICD10EXP:A39.1+" MONDO:0006015 "NCIT:C85225" MONDO:0006015 "GARD:0009449" MONDO:0006015 "MESH:D014884" MONDO:0006015 "ICD9:036.3" MONDO:0006015 "UMLS:C0043068" +MONDO:0006015 "ICD10EXP:E35.1*" MONDO:0006015 "EFO:0007544" MONDO:0006015 "DOID:9931" MONDO:0003372 "NCIT:C40318" @@ -47617,13 +46506,13 @@ MONDO:0003372 "EFO:1001975" MONDO:0003372 "UMLS:C2168304" MONDO:0003372 "DOID:5286" MONDO:0022819 "GARD:0006150" -MONDO:0012962 "OMIM:612623" MONDO:0004703 "SCTID:92546004" -MONDO:0004703 "ICD10:D09.0" MONDO:0004703 "ICD9:233.7" MONDO:0004703 "DOID:9053" MONDO:0004703 "UMLS:C0154091" MONDO:0004703 "NCIT:C3644" +MONDO:0004703 "ICD10CM:D09.0" +MONDO:0012962 "OMIM:612623" MONDO:0002955 "SCTID:717731002" MONDO:0002955 "NCIT:C6381" MONDO:0002955 "DOID:4301" @@ -47654,7 +46543,6 @@ MONDO:0013208 "ICD9:277.89" MONDO:0013208 "UMLS:CN035550" MONDO:0013208 "Orphanet:309854" MONDO:0000997 "DOID:10293" -MONDO:0000997 "ICD10:H50.01" MONDO:0000997 "UMLS:C0152204" MONDO:0000997 "MESH:D004948" MONDO:0000997 "ICD9:378.01" @@ -47671,8 +46559,8 @@ MONDO:0042980 "GTR:AN0099344" MONDO:0042980 "MESH:C536694" MONDO:0042980 "GTR:AN0099343" MONDO:0042980 "GARD:0005557" -MONDO:0014495 "ICD10:Q87.8" MONDO:0014495 "Orphanet:436245" +MONDO:0014495 "ICD10CM:Q87.8" MONDO:0014495 "OMIM:616108" MONDO:0014495 "UMLS:C4015242" MONDO:0004287 "DOID:7577" @@ -47681,14 +46569,14 @@ MONDO:0004287 "UMLS:C1335303" MONDO:0008060 "MESH:C562907" MONDO:0008060 "UMLS:C3279974" MONDO:0008060 "UMLS:C0406443" +MONDO:0008060 "ICD10CM:L60.3" MONDO:0008060 "DOID:0080079" MONDO:0008060 "SCTID:238719003" MONDO:0008060 "ICD9:703.8" +MONDO:0008060 "ICD10CM:Q84.6" MONDO:0008060 "DOID:0080088" MONDO:0008060 "GARD:0010363" -MONDO:0008060 "ICD10:Q84.6" MONDO:0008060 "OMIM:161050" -MONDO:0008060 "ICD10:L60.3" MONDO:0008060 "Orphanet:79153" MONDO:0008060 "Orphanet:280654" MONDO:0004116 "UMLS:C1112474" @@ -47715,11 +46603,8 @@ MONDO:0005689 "MESH:D002189" MONDO:0005689 "DOID:9505" MONDO:0005689 "SCTID:85005007" MONDO:0005689 "ICD9:304.30" -MONDO:0005689 "ICD10:F12" -MONDO:0005689 "ICD10:F12.2" MONDO:0005689 "EFO:0007191" MONDO:0005689 "SCTID:37344009" -MONDO:0005689 "ICD10:F12.1" MONDO:0005689 "DOID:1849" MONDO:0005689 "ICD9:305.2" MONDO:0009140 "SCTID:93132001" @@ -47728,7 +46613,7 @@ MONDO:0009140 "ICD9:759.89" MONDO:0009140 "Orphanet:1865" MONDO:0009140 "OMIM:224410" MONDO:0009140 "GARD:0002026" -MONDO:0009140 "ICD10:Q77.7" +MONDO:0009140 "ICD10CM:Q77.7" MONDO:0009140 "MESH:C537998" MONDO:0006876 "EFO:1001070" MONDO:0006876 "SCTID:49107007" @@ -47744,22 +46629,20 @@ MONDO:0012511 "NCIT:C92862" MONDO:0012511 "MESH:C563032" MONDO:0007822 "OMIM:147300" MONDO:0032815 "OMIM:618567" -NCBITaxon:50557 "GC_ID:1" -MONDO:0015794 "ICD10:G71.2" MONDO:0015794 "UMLS:C1843691" +MONDO:0015794 "ICD10CM:G71.2" MONDO:0015794 "GARD:0009129" MONDO:0015794 "Orphanet:178148" +NCBITaxon:50557 "GC_ID:1" MONDO:0001329 "ICD9:367.53" MONDO:0001329 "DOID:11637" MONDO:0001329 "UMLS:C0152196" -MONDO:0001329 "ICD10:H52.53" MONDO:0001329 "SCTID:30069002" -MONDO:0004884 "ICD10:H44.5" +MONDO:0004884 "ICD10CM:H44.5" MONDO:0004884 "UMLS:C0154777" MONDO:0004884 "DOID:9799" MONDO:0004884 "ICD9:360.29" MONDO:0004884 "ICD9:360.2" -MONDO:0004884 "ICD10:H44.30" MONDO:0004884 "ICD9:360.40" MONDO:0004884 "ICD9:360.20" MONDO:0004884 "SCTID:62585004" @@ -47770,7 +46653,6 @@ MONDO:0008245 "UMLS:C1868311" MONDO:0008245 "OMIM:172850" MONDO:0008245 "GARD:0005133" MONDO:0001106 "ICD9:404.13" -MONDO:0001106 "ICD10:N19" MONDO:0001106 "SCTID:42399005" MONDO:0001106 "NCIT:C4376" MONDO:0001106 "UMLS:C1565489" @@ -47786,7 +46668,6 @@ MONDO:0002664 "UMLS:C0861859" MONDO:0002664 "DOID:3494" MONDO:0002664 "NCIT:C5776" MONDO:0018310 "EFO:1000318" -MONDO:0018310 "ICD10:C96.5" MONDO:0018310 "UMLS:C0019621" MONDO:0018310 "NCIT:C3107" MONDO:0018310 "UMLS:C0432549" @@ -47804,13 +46685,14 @@ MONDO:0018310 "DOID:2571" MONDO:0018310 "ICD9:202.5" MONDO:0018310 "UMLS:C0432548" MONDO:0018310 "SCTID:65399007" +MONDO:0018310 "ICD10CM:C96.5" +MONDO:0018310 "ICD10CM:C96.6" MONDO:0018310 "UMLS:C0432551" +MONDO:0018310 "ICD10CM:C96.0" MONDO:0018310 "Orphanet:389" MONDO:0018310 "UMLS:C0023381" -MONDO:0018310 "ICD10:C96.6" MONDO:0018310 "ICDO:9754/3" MONDO:0018310 "UMLS:C0432547" -MONDO:0018310 "ICD10:C96.0" MONDO:0018310 "ICDO:9751/1" MONDO:0018310 "UMLS:C0432553" MONDO:0018310 "NCIT:C6920" @@ -47827,7 +46709,6 @@ MONDO:0000390 "OMIM:608161" MONDO:0000390 "UMLS:C0339510" MONDO:0000390 "Orphanet:99000" MONDO:0000390 "OMIMPS:153840" -MONDO:0000390 "ICD10:H35.5" MONDO:0000390 "OMIM:153840" MONDO:0000390 "NCIT:C118788" MONDO:0000390 "OMIM:616152" @@ -47840,13 +46721,13 @@ MONDO:0000390 "DOID:0050661" MONDO:0022662 "GARD:0001129" MONDO:0007048 "SCTID:400085009" MONDO:0007048 "ICD9:757.39" +MONDO:0007048 "ICD10CM:Q82.8" MONDO:0007048 "NCIT:C27519" MONDO:0007048 "OMIM:101900" MONDO:0007048 "MedDRA:10069445" MONDO:0007048 "EFO:1000666" MONDO:0007048 "DOID:0050606" MONDO:0007048 "UMLS:C0265971" -MONDO:0007048 "ICD10:Q82.8" MONDO:0007048 "Orphanet:79151" NCBITaxon:2731363 "GC_ID:1" MONDO:0013952 "MESH:C566624" @@ -47856,22 +46737,22 @@ MONDO:0013952 "OMIM:614887" MONDO:0043783 "SCTID:206539008" MONDO:0043783 "NCIT:C35009" MONDO:0043783 "MESH:D012593" -MONDO:0015677 "ICD10:Q24.8" MONDO:0015677 "GARD:0001094" +MONDO:0015677 "ICD10CM:Q24.8" MONDO:0015677 "UMLS:CN226726" MONDO:0015677 "Orphanet:1686" MONDO:0015677 "HP:0100571" -MONDO:0020338 "ICD10:D60.0" MONDO:0020338 "Orphanet:98872" MONDO:0020338 "UMLS:C0340961" MONDO:0020338 "SCTID:765748009" MONDO:0020338 "GARD:0010898" MONDO:0020338 "NCIT:C70548" +MONDO:0020338 "ICD10CM:D60.0" MONDO:0001516 "NCIT:C85075" MONDO:0001516 "EFO:0008525" MONDO:0001516 "ICD9:335.19" MONDO:0001516 "SCTID:5262007" -MONDO:0001516 "ICD10:G12.9" +MONDO:0001516 "ICD10CM:G10-G14" MONDO:0001516 "ICD9:335.10" MONDO:0001516 "UMLS:C0026847" MONDO:0001516 "ICD9:335.1" @@ -47888,28 +46769,27 @@ MONDO:0002547 "DOID:3193" MONDO:0002547 "MESH:D018317" MONDO:0002547 "ONCOTREE:NST" MONDO:0002547 "NCIT:C4972" -MONDO:0014673 "ICD10:Q12.0" MONDO:0014673 "DOID:0110267" MONDO:0014673 "OMIM:616509" MONDO:0014673 "Orphanet:91492" MONDO:0014673 "UMLS:C4225300" MONDO:0014673 "Orphanet:98994" MONDO:0022545 "GARD:0000825" -MONDO:0010612 "ICD10:Q04.3" MONDO:0010612 "MESH:C564407" MONDO:0010612 "GARD:0001200" MONDO:0010612 "Orphanet:1397" MONDO:0010612 "OMIM:307010" +MONDO:0010612 "ICD10CM:Q04.3" MONDO:0010612 "UMLS:C1844005" MONDO:0005923 "EFO:0007447" MONDO:0005923 "UMLS:C0851886" MONDO:0005923 "MESH:D016720" MONDO:0016281 "SCTID:18978002" MONDO:0016281 "MESH:D050090" +MONDO:0016281 "ICD10CM:Q56.0" MONDO:0016281 "UMLS:C2748895" MONDO:0016281 "NCIT:C127167" MONDO:0016281 "Orphanet:2138" -MONDO:0016281 "ICD10:Q56.0" MONDO:0016281 "OMIM:400045" MONDO:0016281 "UMLS:CN776920" MONDO:0002957 "NCIT:C38111" @@ -47920,7 +46800,7 @@ MONDO:0011029 "OMIM:601308" MONDO:0012103 "UMLS:C1837518" MONDO:0012103 "OMIM:608703" MONDO:0012103 "DOID:0050974" -MONDO:0012103 "ICD10:G11.8" +MONDO:0012103 "ICD10CM:G11.8" MONDO:0012103 "Orphanet:101111" MONDO:0012103 "MESH:C537202" MONDO:0012103 "SCTID:718770005" @@ -47929,9 +46809,9 @@ MONDO:0013661 "SCTID:702365002" MONDO:0013661 "DOID:0111263" MONDO:0013661 "Orphanet:289504" MONDO:0013661 "GARD:0010818" -MONDO:0013661 "ICD10:E71.1" MONDO:0013661 "OMIM:614265" MONDO:0013661 "UMLS:C3280314" +MONDO:0013661 "ICD10CM:E71.1" MONDO:0013661 "MESH:C580002" MONDO:0021533 "OMIM:114900" MONDO:0021533 "UMLS:C0349535" @@ -47939,18 +46819,16 @@ MONDO:0021533 "SCTID:276816003" MONDO:0021533 "MESH:C562842" MONDO:0021533 "NCIT:C4637" MONDO:0005277 "NCIT:C113482" -MONDO:0005277 "ICD10:G43.909" MONDO:0005277 "SCTID:37796009" +MONDO:0005277 "ICD10CM:G40-G47" MONDO:0005277 "ICD9:346" MONDO:0005277 "EFO:0003821" MONDO:0005277 "DOID:6364" MONDO:0005277 "NCIT:C89715" MONDO:0005277 "MESH:D008881" MONDO:0005277 "ICD9:346.9" -MONDO:0005277 "ICD10:G43" -MONDO:0005277 "ICD10:G43.9" MONDO:0009868 "MESH:C563008" -MONDO:0009868 "ICD10:E74.0" +MONDO:0009868 "ICD10CM:E74.0" MONDO:0009868 "DOID:0111041" MONDO:0009868 "UMLS:C0543514" MONDO:0009868 "Orphanet:79240" @@ -47968,9 +46846,7 @@ MONDO:0006505 "MESH:D020144" MONDO:0001193 "ICD9:363.30" MONDO:0001193 "ICD9:363.3" MONDO:0001193 "DOID:11086" -MONDO:0001193 "ICD10:H31.00" MONDO:0001193 "SCTID:53854005" -MONDO:0001193 "ICD10:H31.0" MONDO:0011344 "MESH:C566359" MONDO:0011344 "OMIM:603588" MONDO:0011344 "UMLS:C1863691" @@ -47979,13 +46855,13 @@ MONDO:0000776 "DOID:0060501" MONDO:0000776 "SCTID:300915004" MONDO:0006679 "ICD9:596.0" MONDO:0006679 "MESH:D001748" -MONDO:0006679 "ICD10:N32.0" MONDO:0006679 "SCTID:399072004" MONDO:0006679 "NCIT:C79541" MONDO:0006679 "DOID:13948" MONDO:0006679 "EFO:1000840" MONDO:0006679 "MedDRA:10005053" MONDO:0006679 "UMLS:C0005694" +MONDO:0006679 "ICD10CM:N32.0" MONDO:0013544 "Orphanet:334" MONDO:0013544 "UMLS:C3279693" MONDO:0013544 "OMIM:614049" @@ -48005,17 +46881,14 @@ MONDO:0002267 "DOID:2320" MONDO:0001497 "UMLS:C0042374" MONDO:0001497 "SCTID:198057005" MONDO:0001497 "ICD9:608.83" -MONDO:0001497 "ICD10:N50.1" MONDO:0001497 "DOID:12335" MONDO:0037250 "NCIT:C5053" MONDO:0009235 "Orphanet:363989" MONDO:0009235 "UMLS:C1856718" MONDO:0009235 "OMIM:228980" -MONDO:0009235 "ICD10:H35.5" MONDO:0009235 "MESH:C565564" MONDO:0009235 "DOID:0111677" -MONDO:0002443 "ICD10:G47.63" -MONDO:0002443 "ICD10:F45.8" +MONDO:0009235 "ICD10CM:H35.5" MONDO:0002443 "NCIT:C73511" MONDO:0002443 "ICD9:327.53" MONDO:0002443 "HP:0003763" @@ -48023,44 +46896,41 @@ MONDO:0002443 "DOID:2846" MONDO:0020516 "UMLS:CN207412" MONDO:0020516 "UMLS:C2210965" MONDO:0020516 "SCTID:716653001" -MONDO:0020516 "ICD10:C37" +MONDO:0020516 "ICD10CM:C37" MONDO:0020516 "Orphanet:99869" MONDO:0001380 "DOID:11820" MONDO:0001380 "ICD9:188.1" -MONDO:0001380 "ICD10:C67.1" MONDO:0001380 "UMLS:C0496827" MONDO:0001380 "NCIT:C12332" MONDO:0001380 "SCTID:188240003" MONDO:0010332 "UMLS:C1845450" MONDO:0010332 "MESH:C564510" MONDO:0010332 "Orphanet:85280" -MONDO:0010332 "ICD10:Q87.8" +MONDO:0010332 "ICD10CM:Q87.8" MONDO:0010332 "OMIM:300471" MONDO:0012785 "UMLS:C2677588" MONDO:0012785 "OMIM:612017" MONDO:0012785 "MESH:C567435" MONDO:0008038 "GARD:0003865" -MONDO:0008038 "ICD10:D61.0" MONDO:0008038 "OMIM:159550" MONDO:0008038 "MESH:C563233" MONDO:0008038 "SCTID:768556005" +MONDO:0008038 "ICD10CM:D61.0" MONDO:0008038 "UMLS:C1327919" MONDO:0008038 "Orphanet:2585" MONDO:0011415 "DOID:0110331" MONDO:0011415 "MESH:C565814" MONDO:0011415 "GARD:0009661" -MONDO:0011415 "ICD10:H35.5" MONDO:0011415 "OMIM:604232" -MONDO:0016667 "ICD10:D57.2" MONDO:0016667 "UMLS:CN201907" MONDO:0016667 "GARD:0012459" MONDO:0016667 "Orphanet:251355" -MONDO:0007120 "ICD10:Q87.8" MONDO:0007120 "UMLS:C1862868" MONDO:0007120 "Orphanet:1069" MONDO:0007120 "MESH:C566281" MONDO:0007120 "GARD:0000685" MONDO:0007120 "OMIM:106220" +MONDO:0007120 "ICD10CM:Q87.8" MONDO:0000485 "Orphanet:93961" MONDO:0000485 "DOID:0050844" MONDO:0000485 "GARD:0007668" @@ -48073,28 +46943,29 @@ MONDO:0012988 "MESH:C567199" MONDO:0012988 "UMLS:C3552574" MONDO:0012988 "DOID:0090086" MONDO:0012988 "GARD:0010774" -MONDO:0012988 "ICD10:E23.0" MONDO:0003537 "NCIT:C8694" MONDO:0003537 "ICDO:9837/3" MONDO:0003537 "UMLS:C1301359" MONDO:0003537 "DOID:5599" MONDO:0011773 "UMLS:CN029084" +MONDO:0011773 "OMIM:607095" +MONDO:0011773 "ICD10CM:Q77.7" MONDO:0011773 "GARD:0009657" MONDO:0011773 "OMIMPS:607095" +MONDO:0011773 "OMIM:617396" MONDO:0011773 "DOID:0050640" MONDO:0011773 "MESH:C538256" MONDO:0011773 "UMLS:C1846796" -MONDO:0011773 "ICD10:Q77.7" MONDO:0011773 "Orphanet:93347" HP:0100545 "UMLS:C0038449" HP:0100545 "SNOMEDCT_US:68109007" MONDO:0006913 "ICD9:320.1" MONDO:0006913 "UMLS:C0025295" +MONDO:0006913 "ICD10CM:G00.1" MONDO:0006913 "SCTID:51169003" MONDO:0006913 "MedDRA:10027253" MONDO:0006913 "EFO:1001114" MONDO:0006913 "MedDRA:10035645" -MONDO:0006913 "ICD10:G00.1" MONDO:0006913 "MESH:D008586" MONDO:0006913 "Orphanet:55655" MONDO:0023023 "UMLS:C0270178" @@ -48109,7 +46980,7 @@ MONDO:0017271 "UMLS:CN202792" MONDO:0017271 "Orphanet:281222" MONDO:0017533 "Orphanet:295167" MONDO:0017533 "UMLS:CN203264" -MONDO:0017533 "ICD10:Q69.0" +MONDO:0017533 "ICD10CM:Q69.0" MONDO:0000368 "DOID:0050598" MONDO:0000368 "UMLS:C0679362" MONDO:0000368 "SCTID:423997002" @@ -48136,10 +47007,10 @@ MONDO:0005221 "DOID:5974" MONDO:0005221 "SCTID:408642003" MONDO:0005221 "NCIT:C7355" NCBITaxon:35500 "GC_ID:1" +MONDO:0018974 "ICD10CM:L10.81" MONDO:0018974 "Orphanet:63455" MONDO:0018974 "UMLS:C1112570" -MONDO:0018974 "ICD10:L10.8" -MONDO:0018974 "ICD10:L10.81" +MONDO:0018974 "ICD10CM:L10.8" MONDO:0018974 "EFO:0008602" MONDO:0018974 "MedDRA:10057056" MONDO:0009508 "MESH:C537549" @@ -48152,14 +47023,13 @@ MONDO:0014534 "OMIM:616212" MONDO:0004001 "ICD9:958.90" MONDO:0004001 "UMLS:C0009492" MONDO:0004001 "ICD9:958.8" -MONDO:0004001 "MESH:D003161" MONDO:0004001 "DOID:682" +MONDO:0004001 "MESH:D003161" MONDO:0004001 "GARD:0006141" MONDO:0004001 "SCTID:111245009" MONDO:0004001 "NCIT:C118422" -MONDO:0004001 "ICD10:T79.A0" +MONDO:0007909 "ICD10CM:E88.2" MONDO:0007909 "ICD9:214.9" -MONDO:0007909 "ICD10:E88.2" MONDO:0007909 "ICD9:214.8" MONDO:0007909 "OMIM:151900" MONDO:0007909 "GARD:0012925" @@ -48175,10 +47045,10 @@ MONDO:0004326 "DOID:7678" MONDO:0004326 "NCIT:C6841" MONDO:0033552 "OMIM:618983" MONDO:0015372 "UMLS:CN199474" +MONDO:0015372 "ICD10CM:D69.4" MONDO:0015372 "Orphanet:140957" MONDO:0015372 "SCTID:720521008" MONDO:0015372 "OMIM:187800" -MONDO:0015372 "ICD10:D69.4" MONDO:0015372 "OMIM:615193" MONDO:0015372 "UMLS:C4304021" MONDO:0015372 "OMIM:613112" @@ -48187,7 +47057,7 @@ MONDO:0012494 "MESH:C566478" MONDO:0012494 "OMIM:610441" MONDO:0012494 "UMLS:C1864873" MONDO:0019659 "Orphanet:93258" -MONDO:0019659 "ICD10:Q87.0" +MONDO:0019659 "ICD10CM:Q87.0" MONDO:0019659 "UMLS:CN206533" MONDO:0003129 "UMLS:C1333420" MONDO:0003129 "NCIT:C36053" @@ -48208,7 +47078,6 @@ MONDO:0003012 "DOID:4473" MONDO:0003012 "UMLS:C1266043" MONDO:0003012 "ONCOTREE:SRCC" MONDO:0001700 "OMIM:261100" -MONDO:0001700 "ICD10:D53.1" MONDO:0001700 "OMIM:613839" MONDO:0001700 "UMLS:C0002888" MONDO:0001700 "HP:0001889" @@ -48219,7 +47088,6 @@ MONDO:0001700 "DOID:13382" MONDO:0002211 "DOID:2115" MONDO:0002211 "ICD9:279.03" MONDO:0002211 "NCIT:C4799" -MONDO:0005728 "ICD10:J98.6" MONDO:0005728 "UMLS:C0152097" MONDO:0005728 "ICD9:519.4" MONDO:0005728 "DOID:10481" @@ -48260,25 +47128,20 @@ MONDO:0011417 "OMIM:604250" MONDO:0011417 "SCTID:719974003" MONDO:0011417 "UMLS:C1858664" MONDO:0011417 "GARD:0010093" -MONDO:0011417 "ICD10:E83.1" MONDO:0011417 "MESH:C537248" MONDO:0011417 "Orphanet:225123" +MONDO:0011417 "ICD10CM:E83.1" MONDO:0008458 "NCIT:C148315" MONDO:0008458 "Orphanet:98756" MONDO:0008458 "DOID:0050955" MONDO:0008458 "GARD:0004072" MONDO:0008458 "SCTID:715751004" MONDO:0008458 "OMIM:183090" -MONDO:0008458 "ICD10:G11.2" MONDO:0008458 "UMLS:C0752121" -MONDO:0018523 "ICD10:C25.2" +MONDO:0008458 "ICD10CM:G11.2" MONDO:0018523 "DOID:7235" MONDO:0018523 "DOID:7735" -MONDO:0018523 "ICD10:C25.8" MONDO:0018523 "Orphanet:424053" -MONDO:0018523 "ICD10:C25.0" -MONDO:0018523 "ICD10:C25.7" -MONDO:0018523 "ICD10:C25.1" MONDO:0018523 "NCIT:C5718" MONDO:0010111 "OMIM:273400" MONDO:0010111 "MESH:C535637" @@ -48295,9 +47158,9 @@ MONDO:0001358 "UMLS:C0006261" MONDO:0001358 "MESH:D001982" MONDO:0001358 "ICD9:519.19" MONDO:0009400 "DOID:0080542" -MONDO:0009400 "ICD10:E72.5" MONDO:0009400 "Orphanet:419" MONDO:0009400 "OMIM:239500" +MONDO:0009400 "ICD10CM:E72.5" MONDO:0009400 "ICD9:270.8" MONDO:0009400 "MedDRA:10058513" MONDO:0009400 "SCTID:61071003" @@ -48316,7 +47179,7 @@ MONDO:0022098 "MESH:C538279" NCBITaxon:302011 "PMID:15766388" NCBITaxon:302011 "GC_ID:11" MONDO:0015092 "Orphanet:101023" -MONDO:0015092 "ICD10:Q35.1" +MONDO:0015092 "ICD10CM:Q35.1" MONDO:0015092 "SCTID:448915004" MONDO:0001870 "NCIT:C35443" MONDO:0001870 "SCTID:68544003" @@ -48343,15 +47206,14 @@ MONDO:0010803 "DOID:0111732" MONDO:0010803 "MESH:C564010" MONDO:0010803 "OMIM:600002" MONDO:0013250 "OMIM:613392" -MONDO:0013250 "ICD10:H90.3" MONDO:0013250 "DOID:0110531" MONDO:0013250 "UMLS:C3160740" MONDO:0010709 "OMIM:311510" MONDO:0010709 "UMLS:C0796195" MONDO:0010709 "GARD:0003203" MONDO:0010709 "SCTID:716107009" -MONDO:0010709 "ICD10:G20" MONDO:0010709 "DOID:0111781" +MONDO:0010709 "ICD10CM:G20" MONDO:0010709 "MESH:C537179" MONDO:0010709 "Orphanet:2379" MONDO:0005316 "NCIT:C116973" @@ -48361,9 +47223,9 @@ MONDO:0005316 "SCTID:419760006" MONDO:0005316 "EFO:0003932" MONDO:0005316 "MESH:D016585" MONDO:0019438 "UMLS:C0268381" +MONDO:0019438 "ICD10CM:E85.9" MONDO:0019438 "MedDRA:10036673" MONDO:0019438 "MESH:C531616" -MONDO:0019438 "ICD10:E85.9" MONDO:0019438 "Orphanet:85443" MONDO:0019438 "GARD:0005797" MONDO:0019438 "OMIM:254500" @@ -48380,18 +47242,17 @@ MONDO:0014769 "OMIMPS:615774" MONDO:0014769 "UMLS:CN238505" MONDO:0014769 "UMLS:C4225210" MONDO:0014769 "OMIM:616780" -MONDO:0019848 "ICD10:Q54.3" -MONDO:0019848 "ICD10:Q54.2" +MONDO:0019848 "ICD10CM:Q54.3" +MONDO:0019848 "ICD10CM:Q54.2" MONDO:0019848 "Orphanet:95706" MONDO:0007994 "MESH:C536429" MONDO:0007994 "OMIM:156830" MONDO:0007994 "Orphanet:2655" MONDO:0007994 "Orphanet:93274" MONDO:0020170 "Orphanet:98579" -MONDO:0020170 "ICD10:H02.5" +MONDO:0020170 "ICD10CM:H02.5" NCBITaxon:6945 "GC_ID:1" MONDO:0032764 "OMIM:618460" -MONDO:0006718 "ICD10:A50.06" MONDO:0006718 "EFO:1000887" MONDO:0006718 "MESH:D013591" MONDO:0019096 "Orphanet:71198" @@ -48401,60 +47262,55 @@ MONDO:0013367 "Orphanet:101016" MONDO:0013367 "GARD:0003285" MONDO:0013367 "UMLS:C3150943" MONDO:0013367 "MESH:C563614" -MONDO:0013367 "ICD10:I45.8" MONDO:0013367 "NCIT:C137957" MONDO:0013367 "Orphanet:768" MONDO:0013367 "OMIM:613688" MONDO:0013367 "HGNC:6251" MONDO:0013367 "DOID:0110645" -MONDO:0014313 "ICD10:D84.8" +MONDO:0014313 "ICD10CM:D84.8" MONDO:0014313 "OMIM:615707" MONDO:0014313 "Orphanet:437552" MONDO:0014313 "UMLS:C3810342" MONDO:0013757 "UMLS:C3280817" MONDO:0013757 "DOID:0070128" MONDO:0013757 "OMIM:614450" -MONDO:0013757 "ICD10:E03.1" MONDO:0013757 "Orphanet:97927" MONDO:0032601 "Orphanet:565788" MONDO:0032601 "OMIM:618213" NCBITaxon:482 "GC_ID:11" NCBITaxon:482 "PMID:7520730" CL:0000076 "CALOHA:TS-1249" -MONDO:0020391 "ICD10:Q25.7" +MONDO:0020391 "ICD10CM:Q25.7" MONDO:0020391 "Orphanet:99050" MONDO:0020391 "GARD:0004586" MONDO:0012355 "OMIM:609823" MONDO:0012355 "UMLS:C1853276" MONDO:0012355 "MESH:C565218" MONDO:0012355 "NCIT:C129023" -MONDO:0012355 "ICD10:H90.3" MONDO:0012355 "DOID:0110486" MONDO:0020768 "GARD:0001715" MONDO:0020768 "OMIMPS:304500" MONDO:0037745 "ICDO:8811/0" MONDO:0037745 "NCIT:C66760" -MONDO:0015990 "ICD10:G24.8" -MONDO:0015990 "ICD10:G24.4" -MONDO:0015990 "ICD10:G24.3" +MONDO:0015990 "ICD10CM:G24.5" +MONDO:0015990 "ICD10CM:G24.4" +MONDO:0015990 "ICD10CM:G24.8" MONDO:0015990 "Orphanet:1866" -MONDO:0015990 "ICD10:G24.5" +MONDO:0015990 "ICD10CM:G24.3" MONDO:0018115 "SCTID:239112008" MONDO:0018115 "MedDRA:10014985" -MONDO:0018115 "ICD10:Q85.8" MONDO:0018115 "Orphanet:35125" -MONDO:0001302 "ICD10:I11" +MONDO:0018115 "ICD10CM:Q85.8" MONDO:0001302 "ICD9:402.9" MONDO:0001302 "SCTID:64715009" MONDO:0001302 "NCIT:C4907" -MONDO:0001302 "ICD10:I11.9" MONDO:0001302 "UMLS:C0152105" MONDO:0001302 "ICD9:402" MONDO:0001302 "DOID:11516" MONDO:0007205 "UMLS:C1862177" MONDO:0007205 "NCIT:C122660" +MONDO:0007205 "ICD10CM:M89.8" MONDO:0007205 "GARD:0010072" -MONDO:0007205 "ICD10:M89.8" MONDO:0007205 "OMIM:112250" MONDO:0007205 "Orphanet:85182" MONDO:0002860 "DOID:4061" @@ -48472,12 +47328,12 @@ HP:0001337 "SNOMEDCT_US:26079004" HP:0001337 "UMLS:C0040822" HP:0001337 "MSH:D014202" MONDO:0014244 "NCIT:C125388" -MONDO:0014244 "ICD10:G60.8" MONDO:0014244 "GARD:12723" MONDO:0014244 "DOID:0070149" MONDO:0014244 "GARD:0012732" MONDO:0014244 "OMIM:615548" MONDO:0014244 "Orphanet:391397" +MONDO:0014244 "ICD10CM:G60.8" MONDO:0014244 "UMLS:C3809882" MONDO:0002927 "NCIT:C27005" MONDO:0002927 "MESH:D012509" @@ -48487,12 +47343,11 @@ MONDO:0002927 "UMLS:C0205945" MONDO:0008237 "Orphanet:2878" MONDO:0008237 "OMIM:171480" MONDO:0008237 "UMLS:C1868390" -MONDO:0008237 "ICD10:Q87.2" +MONDO:0008237 "ICD10CM:Q87.2" MONDO:0008237 "GARD:0004323" MONDO:0008237 "MESH:C537498" MONDO:0017356 "Orphanet:289869" MONDO:0017356 "UMLS:C0342690" -MONDO:0017356 "ICD10:E72.4" MONDO:0017356 "SCTID:237928008" MONDO:0005247 "SCTID:68566005" MONDO:0005247 "EFO:0003103" @@ -48512,7 +47367,6 @@ MONDO:0001523 "DOID:1241" MONDO:0001523 "SCTID:20842008" MONDO:0001523 "ICD9:360.81" MONDO:0001523 "UMLS:C0154806" -MONDO:0001523 "ICD10:H44.82" MONDO:0007426 "MESH:C567079" MONDO:0007426 "UMLS:C2607947" MONDO:0007426 "OMIM:125000" @@ -48520,13 +47374,13 @@ MONDO:0043775 "SCTID:64228003" MONDO:0043775 "MESH:D012133" MONDO:0019994 "UMLS:CN036719" MONDO:0019994 "Orphanet:97678" -MONDO:0019994 "ICD10:Q99.8" -MONDO:0015398 "ICD10:Q75.8" +MONDO:0019994 "ICD10CM:Q99.8" +MONDO:0015398 "ICD10CM:Q75.8" MONDO:0015398 "SCTID:109393007" MONDO:0015398 "UMLS:CN199493" MONDO:0015398 "GARD:0006582" MONDO:0015398 "Orphanet:141136" -MONDO:0016344 "ICD10:Q04.3" +MONDO:0016344 "ICD10CM:Q04.3" MONDO:0016344 "NCIT:C98949" MONDO:0016344 "DOID:4626" MONDO:0016344 "UMLS:C0020225" @@ -48540,7 +47394,7 @@ MONDO:0027749 "Orphanet:250805" MONDO:0006688 "ICD9:504" MONDO:0006688 "GARD:0005976" MONDO:0006688 "UMLS:C0006542" -MONDO:0006688 "ICD10:J66.0" +MONDO:0006688 "ICD10CM:J66.0" MONDO:0006688 "SCTID:13151001" MONDO:0006688 "UMLS:C2242894" MONDO:0006688 "DOID:10323" @@ -48558,10 +47412,10 @@ MONDO:0007634 "MESH:C566980" MONDO:0007634 "UMLS:C1969893" MONDO:0007634 "OMIM:136630" MONDO:0019720 "Orphanet:93546" +MONDO:0008810 "ICD10CM:E78.3" MONDO:0008810 "DOID:0111418" MONDO:0008810 "UMLS:C0268199" MONDO:0008810 "SCTID:33513003" -MONDO:0008810 "ICD10:E78.3" MONDO:0008810 "UMLS:C1720779" MONDO:0008810 "OMIM:207750" MONDO:0008810 "Orphanet:309020" @@ -48606,7 +47460,6 @@ MONDO:0011060 "OMIM:605387" MONDO:0011060 "OMIM:609376" MONDO:0011060 "OMIM:609741" MONDO:0011060 "OMIM:115900" -MONDO:0011060 "ICD10:Q12.0" MONDO:0011060 "OMIM:611597" MONDO:0011060 "OMIM:611391" MONDO:0011060 "OMIM:116200" @@ -48619,31 +47472,29 @@ MONDO:0001022 "DOID:10378" MONDO:0001022 "UMLS:C0152189" MONDO:0001022 "ICD9:368.02" MONDO:0001022 "SCTID:193638002" -MONDO:0001022 "ICD10:H53.01" MONDO:0000252 "DOID:0050132" MONDO:0000252 "SCTID:95544006" MONDO:0004539 "DOID:8352" MONDO:0004539 "UMLS:C1334560" MONDO:0004539 "NCIT:C5375" MONDO:0002105 "UMLS:C0025162" -MONDO:0002105 "ICD10:K59.31" MONDO:0002105 "SCTID:28536002" +MONDO:0002105 "ICD10CM:K59.31" MONDO:0002105 "ICD9:564.7" MONDO:0002105 "MESH:D008532" -MONDO:0002105 "ICD10:K59.3" MONDO:0002105 "DOID:1770" MONDO:0008008 "MESH:C535812" MONDO:0008008 "UMLS:C1834759" +MONDO:0008008 "ICD10CM:Q87.3" MONDO:0008008 "Orphanet:2563" MONDO:0008008 "GARD:0000178" -MONDO:0008008 "ICD10:Q87.3" MONDO:0008008 "OMIM:157980" MONDO:0008008 "SCTID:724137002" CL:0001066 "BTO:0004911" -MONDO:0016227 "ICD10:G11.8" MONDO:0016227 "SCTID:421455009" MONDO:0016227 "UMLS:C1720189" MONDO:0016227 "EFO:1000638" +MONDO:0016227 "ICD10CM:G11.8" MONDO:0016227 "GARD:0009851" MONDO:0016227 "OMIMPS:160120" MONDO:0016227 "DOID:963" @@ -48655,11 +47506,9 @@ MONDO:0011188 "MESH:C566584" MONDO:0011188 "DOID:0110072" MONDO:0011188 "Orphanet:217656" MONDO:0011188 "UMLS:C1865882" -MONDO:0011188 "ICD10:I42.8" MONDO:0006875 "EFO:1001069" MONDO:0006875 "ICD9:365.04" MONDO:0006875 "MESH:D009798" -MONDO:0006875 "ICD10:H40.05" MONDO:0006875 "SCTID:4210003" MONDO:0006875 "UMLS:C0028840" MONDO:0006875 "NCIT:C3285" @@ -48669,13 +47518,13 @@ MONDO:0012134 "OMIM:608816" MONDO:0012134 "DOID:0111326" MONDO:0012134 "Orphanet:307" MONDO:0012134 "UMLS:C1837308" -MONDO:0018296 "ICD10:E77.8" MONDO:0018296 "GARD:0012782" MONDO:0018296 "Orphanet:371235" +MONDO:0018296 "ICD10CM:E77.8" MONDO:0019603 "UMLS:CN206455" MONDO:0019603 "SCTID:722111004" MONDO:0019603 "Orphanet:91133" -MONDO:0019603 "ICD10:Q87.5" +MONDO:0019603 "ICD10CM:Q87.5" MONDO:0016984 "NCIT:C7583" MONDO:0016984 "EFO:1000396" MONDO:0016984 "Orphanet:263425" @@ -48684,7 +47533,7 @@ MONDO:0016984 "UMLS:C0027961" MONDO:0016984 "MESH:D009507" MONDO:0016984 "SCTID:414929001" MONDO:0016984 "MedDRA:10051713" -MONDO:0016984 "ICD10:D22.3" +MONDO:0016984 "ICD10CM:D22.3" MONDO:0003678 "NCIT:C35400" MONDO:0003678 "UMLS:C0340324" MONDO:0003678 "DOID:5854" @@ -48701,16 +47550,16 @@ MONDO:0008927 "Orphanet:435930" MONDO:0008927 "MESH:C565876" MONDO:0008927 "Orphanet:2542" MONDO:0008927 "DOID:0080635" -MONDO:0008927 "ICD10:Q14.8" MONDO:0008927 "UMLS:CN237578" +MONDO:0008927 "ICD10CM:Q14.8" MONDO:0032603 "OMIM:618219" MONDO:0010176 "DOID:0060376" -MONDO:0010176 "ICD10:Q04.3" MONDO:0010176 "SCTID:721873007" MONDO:0010176 "MESH:C536531" MONDO:0010176 "OMIM:615665" MONDO:0010176 "OMIM:614815" MONDO:0010176 "Orphanet:2754" +MONDO:0010176 "ICD10CM:Q04.3" MONDO:0010176 "OMIM:617127" MONDO:0010176 "GARD:0004412" MONDO:0010176 "NCIT:C124841" @@ -48719,38 +47568,38 @@ MONDO:0010176 "OMIM:300804" MONDO:0010176 "OMIM:277170" MONDO:0020241 "Orphanet:98662" MONDO:0020241 "UMLS:CN227835" +MONDO:0010005 "ICD10CM:E72.3" MONDO:0010005 "SCTID:111397004" MONDO:0010005 "Orphanet:3124" MONDO:0010005 "MESH:C537218" MONDO:0010005 "OMIM:268700" MONDO:0010005 "UMLS:C0268556" -MONDO:0010005 "ICD10:E72.3" MONDO:0010005 "GARD:0000314" MONDO:0010005 "ICD9:270.7" -NCBITaxon:5125 "GC_ID:1" NCBITaxon:6683 "GC_ID:1" +NCBITaxon:5125 "GC_ID:1" HP:0011028 "UMLS:C4020760" HP:0011028 "UMLS:C4023585" +MONDO:0013922 "ICD10CM:Q87.1" MONDO:0013922 "OMIM:614851" MONDO:0013922 "DOID:0070011" MONDO:0013922 "UMLS:C3553870" -MONDO:0013922 "ICD10:Q87.1" MONDO:0013922 "Orphanet:319675" MONDO:0008161 "Orphanet:99806" MONDO:0008161 "GARD:0004168" MONDO:0008161 "UMLS:C2750325" -MONDO:0008161 "ICD10:K00.2" -MONDO:0008161 "Orphanet:2791" MONDO:0008161 "UMLS:C1833693" +MONDO:0008161 "Orphanet:2791" +MONDO:0008161 "ICD10CM:K00.2" MONDO:0008161 "SCTID:707310009" MONDO:0008161 "OMIM:166750" MONDO:0001896 "UMLS:C0549423" MONDO:0001896 "MESH:D006849" +MONDO:0001896 "ICD10CM:G91.1" MONDO:0001896 "DOID:14159" MONDO:0001896 "NCIT:C116347" MONDO:0001896 "ICD9:331.4" MONDO:0001896 "SCTID:230746009" -MONDO:0001896 "ICD10:G91.1" MONDO:0005026 "ICDO:8380/3" MONDO:0005026 "NCIT:C3769" MONDO:0005026 "UMLS:C0206687" @@ -48759,7 +47608,6 @@ MONDO:0005026 "UMLS:C1569637" MONDO:0000681 "DOID:0060151" MONDO:0006584 "ICD9:774.6" MONDO:0006584 "DOID:2383" -MONDO:0006584 "ICD10:P59.9" MONDO:0006584 "UMLS:C0022353" MONDO:0006584 "EFO:1000739" MONDO:0006584 "MESH:D007567" @@ -48770,12 +47618,12 @@ MONDO:0020697 "NCIT:C45545" MONDO:0011578 "SCTID:717734005" MONDO:0011578 "UMLS:C1854104" MONDO:0011578 "OMIM:605642" -MONDO:0011578 "ICD10:C73" MONDO:0011578 "MESH:C565310" MONDO:0011578 "Orphanet:97290" -MONDO:0011578 "ICD10:C64" +MONDO:0011578 "ICD10CM:C73" +MONDO:0011578 "ICD10CM:C64" +MONDO:0015907 "ICD10CM:Q77.8" MONDO:0015907 "Orphanet:1819" -MONDO:0015907 "ICD10:Q77.8" MONDO:0015907 "GARD:0002176" MONDO:0010868 "GARD:0009165" MONDO:0010868 "OMIM:600332" @@ -48783,24 +47631,22 @@ MONDO:0010868 "DOID:0070308" MONDO:0010868 "Orphanet:97238" MONDO:0012520 "Orphanet:2297" MONDO:0012520 "OMIM:610549" -MONDO:0012520 "ICD10:E13" MONDO:0012520 "NCIT:C131836" MONDO:0012520 "EFO:1001503" +MONDO:0012520 "ICD10CM:E13" MONDO:0012520 "MESH:C562710" MONDO:0012520 "GARD:0003008" MONDO:0000748 "DOID:0060322" MONDO:0000748 "ICD9:383.9" -MONDO:0000748 "ICD10:H70.9" MONDO:0000748 "NCIT:C128368" MONDO:0000748 "SCTID:52404001" -MONDO:0000748 "ICD10:H70.90" MONDO:0000748 "HP:0000265" MONDO:0000748 "UMLS:C0024904" MONDO:0000748 "MESH:D008417" MONDO:0011814 "OMIM:607326" MONDO:0011814 "Orphanet:178355" MONDO:0011814 "UMLS:C3888088" -MONDO:0019597 "ICD10:E29.1" +MONDO:0019597 "ICD10CM:E29.1" MONDO:0019597 "Orphanet:90796" MONDO:0019597 "OMIM:202110" MONDO:0019597 "UMLS:CN206443" @@ -48809,14 +47655,15 @@ MONDO:0023089 "GARD:0006378" MONDO:0023089 "NCIT:C3025" MONDO:0023089 "UMLS:C0014818" MONDO:0015177 "GARD:0003562" +MONDO:0015177 "ICD10CM:Q78.5" MONDO:0015177 "MESH:C537351" MONDO:0015177 "OMIM:602111" MONDO:0015177 "UMLS:C0432226" MONDO:0015177 "OMIM:613073" MONDO:0015177 "SCTID:254085009" +MONDO:0015177 "OMIM:309645" MONDO:0015177 "ICD9:756.9" MONDO:0015177 "Orphanet:1040" -MONDO:0015177 "ICD10:Q78.5" MONDO:0020710 "NCIT:C50459" MONDO:0020710 "ICD9:658.40" MONDO:0020710 "UMLS:C0002631" @@ -48827,7 +47674,6 @@ MONDO:0016123 "Orphanet:206982" MONDO:0004893 "SCTID:40608009" MONDO:0004893 "DOID:9837" MONDO:0004893 "ICD9:378.31" -MONDO:0004893 "ICD10:H50.2" MONDO:0004893 "NCIT:C34716" MONDO:0004893 "UMLS:C0020575" MONDO:0022723 "SCTID:205465004" @@ -48838,26 +47684,26 @@ NCBITaxon:287 "GC_ID:11" NCBITaxon:6937 "GC_ID:1" CL:1000303 "FMA:261279" MONDO:0032795 "OMIM:618522" +MONDO:0017217 "ICD10CM:E83.5" MONDO:0017217 "Orphanet:280068" -MONDO:0017217 "ICD10:E83.5" MONDO:0007071 "SCTID:12427005" MONDO:0007071 "UMLS:C0271740" MONDO:0007071 "OMIM:103230" MONDO:0007071 "ICD9:255.41" MONDO:0007071 "Orphanet:85138" MONDO:0007071 "MESH:C562711" +MONDO:0008402 "ICD10CM:Q87.8" MONDO:0008402 "GARD:0000162" MONDO:0008402 "Orphanet:2013" MONDO:0008402 "UMLS:C1867023" MONDO:0008402 "MESH:C536621" MONDO:0008402 "SCTID:763130006" -MONDO:0008402 "ICD10:Q87.8" MONDO:0008402 "OMIM:181180" MONDO:0014339 "Orphanet:412057" MONDO:0014339 "DOID:0080029" +MONDO:0014339 "ICD10CM:G11.1" MONDO:0014339 "OMIM:615768" MONDO:0014339 "UMLS:C4014261" -MONDO:0014339 "ICD10:G11.1" MONDO:0009960 "UMLS:C0009324" MONDO:0009960 "DOID:0110892" MONDO:0009960 "SCTID:34000006" @@ -48870,7 +47716,7 @@ MONDO:0002058 "UMLS:C1328385" MONDO:0021809 "MESH:D054969" MONDO:0016416 "ICD9:752.69" MONDO:0016416 "SCTID:253851000" -MONDO:0016416 "ICD10:Q55.6" +MONDO:0016416 "ICD10CM:Q55.6" MONDO:0016416 "Orphanet:227" MONDO:0016416 "GARD:0001872" MONDO:0017974 "UMLS:CN227235" @@ -48889,14 +47735,14 @@ MONDO:0004696 "ICD9:231.0" MONDO:0004696 "DOID:9011" MONDO:0004696 "SCTID:92634009" MONDO:0004696 "NCIT:C9100" -MONDO:0004696 "ICD10:D02.0" +MONDO:0004696 "ICD10CM:D02.0" MONDO:0004696 "UMLS:C0154069" -MONDO:0009843 "ICD10:E75.2" MONDO:0009843 "Orphanet:280270" MONDO:0009843 "OMIM:260600" MONDO:0009843 "MESH:C536319" MONDO:0009843 "Orphanet:280293" MONDO:0009843 "UMLS:C1850053" +MONDO:0009843 "ICD10CM:E75.2" MONDO:0009843 "DOID:0060790" MONDO:0009843 "GARD:0004266" MONDO:0014693 "OMIM:616564" @@ -48910,14 +47756,14 @@ MONDO:0003499 "SCTID:254653005" MONDO:0015404 "UMLS:C1275421" MONDO:0015404 "Orphanet:141184" MONDO:0015404 "SCTID:703294004" -MONDO:0015404 "ICD10:D18.0" +MONDO:0015404 "ICD10CM:D18.0" MONDO:0017857 "Orphanet:3176" MONDO:0017857 "UMLS:CN203872" -MONDO:0017857 "ICD10:Q05.9" +MONDO:0017857 "ICD10CM:Q05.9" MONDO:0019146 "Orphanet:748" -MONDO:0019146 "ICD10:D84.8" MONDO:0019146 "GARD:0012977" MONDO:0019146 "UMLS:C3266863" +MONDO:0019146 "ICD10CM:D84.8" MONDO:0019146 "UMLS:CN181681" MONDO:0004318 "NCIT:C40440" MONDO:0004318 "UMLS:C1518737" @@ -48945,7 +47791,6 @@ MONDO:0013609 "GTR:AN1012610" MONDO:0013609 "UMLS:CN620433" MONDO:0013609 "OMIM:614175" MONDO:0009197 "MESH:C536980" -MONDO:0009197 "ICD10:D60.1" MONDO:0009197 "ICD9:284.81" MONDO:0009197 "OMIM:227050" MONDO:0009197 "Orphanet:98871" @@ -48957,36 +47802,34 @@ MONDO:0009197 "NCIT:C131683" MONDO:0043007 "Orphanet:330197" MONDO:0020476 "Orphanet:99701" MONDO:0008396 "OMIM:180900" -MONDO:0008396 "ICD10:Q87.8" MONDO:0008396 "GARD:0000212" MONDO:0008396 "MESH:C537732" MONDO:0008396 "ICD9:759.89" MONDO:0008396 "UMLS:C0796140" MONDO:0008396 "SCTID:699754008" MONDO:0008396 "Orphanet:2709" +MONDO:0008396 "ICD10CM:Q87.8" MONDO:0016188 "Orphanet:209044" MONDO:0015899 "Orphanet:181415" -MONDO:0018461 "ICD10:Q93.5" MONDO:0018461 "UMLS:CN237441" MONDO:0018461 "Orphanet:411511" +MONDO:0018461 "ICD10CM:Q93.5" MONDO:0016845 "UMLS:CN202185" +MONDO:0016845 "ICD10CM:Q93.5" MONDO:0016845 "Orphanet:261323" -MONDO:0016845 "ICD10:Q93.5" MONDO:0007199 "UMLS:C1862275" MONDO:0007199 "OMIM:110000" MONDO:0007199 "MESH:C566223" MONDO:0003938 "NCIT:C39835" MONDO:0003938 "UMLS:C1511188" MONDO:0003938 "DOID:6594" -MONDO:0002769 "ICD10:N89.8" MONDO:0002769 "DOID:3766" MONDO:0002769 "NCIT:C34775" MONDO:0002769 "MESH:D007973" MONDO:0001515 "ICD9:371.4" -MONDO:0001515 "ICD10:H18.40" MONDO:0001515 "UMLS:C0155118" MONDO:0001515 "ICD9:371.40" -MONDO:0001515 "ICD10:H18.4" +MONDO:0001515 "ICD10CM:H18.4" MONDO:0001515 "SCTID:111521006" MONDO:0001515 "DOID:1237" MONDO:0001515 "ICD9:371.49" @@ -49000,23 +47843,23 @@ MONDO:0013924 "Orphanet:216812" MONDO:0013924 "UMLS:C3553887" MONDO:0013924 "OMIM:614856" MONDO:0013924 "DOID:0110342" -MONDO:0013924 "ICD10:Q78.0" +MONDO:0013924 "ICD10CM:Q78.0" MONDO:0015801 "UMLS:CN200394" MONDO:0015801 "Orphanet:178396" MONDO:0007457 "OMIM:125900" MONDO:0007457 "MESH:C565098" MONDO:0044880 "ONCOTREE:PACT" MONDO:0019493 "Orphanet:874" +MONDO:0019493 "ICD10CM:D15.1" MONDO:0019493 "UMLS:C4275152" -MONDO:0019493 "ICD10:C38.0" MONDO:0019493 "UMLS:CN206280" +MONDO:0019493 "ICD10CM:C38.0" MONDO:0019493 "SCTID:715403006" -MONDO:0019493 "ICD10:D15.1" MONDO:0013701 "OMIM:614339" +MONDO:0019408 "ICD10CM:Q77.3" MONDO:0019408 "GARD:0009220" MONDO:0019408 "MESH:C535392" MONDO:0019408 "Orphanet:85175" -MONDO:0019408 "ICD10:Q77.3" MONDO:0019408 "UMLS:C1300228" MONDO:0019408 "SCTID:389263004" MONDO:0006187 "DOID:0050927" @@ -49029,7 +47872,7 @@ MONDO:0100251 "NCIT:C131851" MONDO:0100251 "DOID:0111063" MONDO:0100251 "UMLS:C1876187" MONDO:0100251 "Orphanet:306661" -MONDO:0100251 "ICD10:M11.2" +MONDO:0100251 "ICD10CM:M11.2" MONDO:0003373 "UMLS:C1335743" MONDO:0003373 "NCIT:C6183" MONDO:0003373 "DOID:5287" @@ -49050,10 +47893,10 @@ MONDO:0009563 "MedDRA:10026817" MONDO:0009563 "SCTID:27718001" MONDO:0009563 "Orphanet:268173" MONDO:0009563 "MESH:D008375" +MONDO:0009563 "ICD10CM:E71.0" MONDO:0009563 "UMLS:C0024776" MONDO:0009563 "OMIM:248600" MONDO:0009563 "Orphanet:268184" -MONDO:0009563 "ICD10:E71.0" MONDO:0009563 "OMIM:615135" MONDO:0009563 "GARD:0003228" MONDO:0009563 "Orphanet:511" @@ -49062,14 +47905,14 @@ MONDO:0008793 "UMLS:C1859783" MONDO:0008793 "GARD:0008587" MONDO:0008793 "OMIM:206570" MONDO:0008793 "MESH:C536367" -MONDO:0014118 "ICD10:D70" MONDO:0014118 "OMIM:615285" MONDO:0014118 "UMLS:C3809031" +MONDO:0014118 "ICD10CM:D70" MONDO:0014118 "Orphanet:369852" +MONDO:0008061 "ICD10CM:Q87.2" MONDO:0008061 "DOID:9467" MONDO:0008061 "MESH:D009261" MONDO:0008061 "OMIM:161200" -MONDO:0008061 "ICD10:Q87.2" MONDO:0008061 "SCTID:22199006" MONDO:0008061 "MedDRA:10063431" MONDO:0008061 "NCIT:C75120" @@ -49090,24 +47933,23 @@ MONDO:0011743 "OMIM:606889" MONDO:0020712 "DOID:0111778" MONDO:0020712 "OMIM:400044" MONDO:0016690 "ICDO:9424/3" -MONDO:0016690 "ICD10:C79.1" MONDO:0016690 "Orphanet:251607" MONDO:0016690 "UMLS:C0334586" MONDO:0016690 "ONCOTREE:PXA" -MONDO:0016690 "ICD10:C71.9" MONDO:0016690 "DOID:4852" MONDO:0016690 "GARD:0010631" MONDO:0016690 "NCIT:C4323" +MONDO:0016690 "ICD10CM:C79.1" MONDO:0020046 "Orphanet:98098" MONDO:0020046 "UMLS:CN229259" -MONDO:0018890 "ICD10:L51.2" MONDO:0018890 "Orphanet:537" MONDO:0018890 "UMLS:C0014518" MONDO:0018890 "UMLS:CN205258" +MONDO:0018890 "ICD10CM:L51.2" NCBITaxon:272561 "GC_ID:11" MONDO:0041114 "SCTID:233958001" MONDO:0015038 "UMLS:CN228904" -MONDO:0015038 "ICD10:Q04.3" +MONDO:0015038 "ICD10CM:Q04.3" MONDO:0015038 "Orphanet:100015" MONDO:0014496 "Orphanet:1460" MONDO:0014496 "UMLS:C4015253" @@ -49116,8 +47958,8 @@ MONDO:0014496 "OMIM:616111" MONDO:0015795 "ONCOTREE:UESL" MONDO:0015795 "Orphanet:178315" MONDO:0015795 "SCTID:716648006" +MONDO:0015550 "ICD10CM:Q81.0" MONDO:0015550 "SCTID:724840004" -MONDO:0015550 "ICD10:Q81.0" MONDO:0015550 "Orphanet:158661" MONDO:0015550 "UMLS:C4511300" MONDO:0019292 "Orphanet:79378" @@ -49154,14 +47996,14 @@ MONDO:0009938 "UMLS:C1956257" MONDO:0014504 "OMIM:616138" MONDO:0014504 "UMLS:C4015307" MONDO:0014504 "Orphanet:2855" +MONDO:0020339 "ICD10CM:G11.4" MONDO:0020339 "Orphanet:98888" -MONDO:0020339 "ICD10:G11.4" +MONDO:0009386 "MESH:C565500" +MONDO:0009386 "OMIM:238350" +MONDO:0015678 "ICD10CM:Q78.8" MONDO:0015678 "UMLS:C4274970" MONDO:0015678 "Orphanet:168621" -MONDO:0015678 "ICD10:Q78.8" MONDO:0015678 "SCTID:715861004" -MONDO:0009386 "MESH:C565500" -MONDO:0009386 "OMIM:238350" CL:0000233 "CALOHA:TS-0803" CL:0000233 "FMA:62851" CL:0000233 "BTO:0000132" @@ -49171,7 +48013,6 @@ MONDO:0006877 "MESH:D009869" MONDO:0006877 "EFO:1001071" MONDO:0006877 "SCTID:76047005" MONDO:0006877 "DOID:10974" -MONDO:0006877 "ICD10:N70.92" MONDO:0002548 "DOID:3196" MONDO:0002548 "SCTID:404026003" MONDO:0002548 "NCIT:C4724" @@ -49180,20 +48021,19 @@ MONDO:0002548 "UMLS:C0431124" MONDO:0002548 "ICD9:215.9" MONDO:0007823 "OMIM:147320" MONDO:0032816 "OMIM:618569" -MONDO:0100125 "ICD10:F16.183" NCBITaxon:504568 "GC_ID:1" HP:0002076 "SNOMEDCT_US:37796009" HP:0002076 "UMLS:C0149931" HP:0002076 "UMLS:C0744641" HP:0002076 "MSH:D008881" MONDO:0016282 "UMLS:CN201072" -MONDO:0016282 "ICD10:C53.8" MONDO:0016282 "UMLS:C4289809" -MONDO:0016282 "ICD10:C53.1" MONDO:0016282 "ONCOTREE:CERMS" MONDO:0016282 "Orphanet:213802" +MONDO:0016282 "ICD10CM:C53.8" +MONDO:0016282 "ICD10CM:C53.1" +MONDO:0016282 "ICD10CM:C53.0" MONDO:0016282 "SCTID:763408003" -MONDO:0016282 "ICD10:C53.0" MONDO:0016282 "NCIT:C128048" NCBITaxon:55872 "GC_ID:1" MONDO:0023528 "NCIT:C125711" @@ -49204,28 +48044,27 @@ MONDO:0019799 "NCIT:C84754" MONDO:0019799 "SCTID:111386004" MONDO:0019799 "UMLS:C0162569" MONDO:0019799 "DOID:5230" -MONDO:0019799 "ICD10:E80.2" MONDO:0019799 "GARD:0006169" MONDO:0019799 "MESH:D017121" MONDO:0019799 "OMIM:176100" +MONDO:0019799 "ICD10CM:E80.2" +MONDO:0008246 "ICD10CM:H35.5" MONDO:0008246 "Orphanet:251295" MONDO:0008246 "OMIM:172870" MONDO:0008246 "SCTID:723450004" MONDO:0008246 "MESH:C566801" MONDO:0008246 "UMLS:C1868310" MONDO:0008246 "DOID:0111541" -MONDO:0008246 "ICD10:H35.5" HP:0001710 "UMLS:C1853238" MONDO:0004706 "DOID:9076" MONDO:0004706 "UMLS:C0155180" -MONDO:0004706 "ICD10:H01.12" MONDO:0004706 "SCTID:79291003" MONDO:0004706 "ICD9:373.34" MONDO:0018311 "GARD:0004500" -MONDO:0018311 "ICD10:L81.4" MONDO:0018311 "SCTID:239089006" MONDO:0018311 "ICD9:709.09" MONDO:0018311 "Orphanet:39" +MONDO:0018311 "ICD10CM:L81.4" MONDO:0007049 "UMLS:C1863342" MONDO:0007049 "OMIM:102000" MONDO:0007049 "MESH:C566322" @@ -49242,8 +48081,8 @@ MONDO:0014088 "Orphanet:164736" MONDO:0014088 "UMLS:C3808874" MONDO:0014088 "DOID:0110012" MONDO:0011522 "DOID:0110767" +MONDO:0011522 "ICD10CM:G11.4" MONDO:0011522 "MESH:C537486" -MONDO:0011522 "ICD10:G11.4" MONDO:0011522 "OMIM:605229" MONDO:0011522 "GARD:0009589" MONDO:0011522 "Orphanet:100995" @@ -49266,32 +48105,28 @@ MONDO:0010060 "DOID:0050556" MONDO:0010060 "SCTID:724227000" MONDO:0010060 "UMLS:C1849096" MONDO:0010060 "MESH:C535523" -MONDO:0010060 "ICD10:G11.1" MONDO:0010060 "OMIM:271245" MONDO:0010060 "Orphanet:1186" +MONDO:0010060 "ICD10CM:G11.1" MONDO:0010060 "GARD:0004062" MONDO:0010060 "DOID:0080126" MONDO:0000777 "DOID:0060502" -MONDO:0018532 "ICD10:C22.1" MONDO:0018532 "UMLS:CN242181" -MONDO:0018532 "ICD10:C22.0" MONDO:0018532 "Orphanet:424943" MONDO:0015227 "Orphanet:109011" MONDO:0012963 "OMIM:612624" MONDO:0017427 "Orphanet:294944" MONDO:0017427 "MedDRA:10024500" -MONDO:0016540 "ICD10:D75.1" +MONDO:0016540 "ICD10CM:D75.1" MONDO:0016540 "Orphanet:238536" MONDO:0012104 "NCIT:C129723" MONDO:0012104 "UMLS:C0220989" -MONDO:0012104 "ICD10:E88.1" MONDO:0012104 "MESH:C562448" MONDO:0012104 "Orphanet:79087" MONDO:0012104 "SCTID:75659004" +MONDO:0012104 "ICD10CM:E88.1" MONDO:0012104 "GARD:0010509" MONDO:0013662 "MESH:D001471" -MONDO:0013662 "ICD10:K22.70" -MONDO:0013662 "ICD10:K22.7" MONDO:0013662 "Orphanet:1232" MONDO:0013662 "ICD9:530.85" MONDO:0013662 "EFO:0000280" @@ -49313,7 +48148,7 @@ MONDO:0009869 "SCTID:4602007" MONDO:0009869 "GARD:0004354" MONDO:0009869 "MESH:D010855" MONDO:0009869 "NCIT:C85010" -MONDO:0009869 "ICD10:Q87.0" +MONDO:0009869 "ICD10CM:Q87.0" MONDO:0009869 "Orphanet:718" MONDO:0009869 "GARD:0004347" MONDO:0008654 "OMIM:193003" @@ -49327,19 +48162,19 @@ MONDO:0018829 "UMLS:CN776926" MONDO:0018829 "Orphanet:481986" MONDO:0018829 "UMLS:C2931870" MONDO:0018829 "GARD:0000166" +MONDO:0016668 "ICD10CM:D57.2" MONDO:0016668 "GARD:0010333" MONDO:0016668 "MedDRA:10040655" -MONDO:0016668 "ICD10:D57.2" MONDO:0016668 "SCTID:127041004" MONDO:0016668 "NCIT:C95539" MONDO:0016668 "MedDRA:10055579" MONDO:0016668 "Orphanet:251359" MONDO:0018031 "GARD:0010986" MONDO:0018031 "SCTID:277796003" +MONDO:0018031 "ICD10CM:C84.0" MONDO:0018031 "UMLS:C0376407" MONDO:0018031 "Orphanet:33111" MONDO:0018031 "NCIT:C35464" -MONDO:0018031 "ICD10:C84.0" MONDO:0011345 "OMIM:603589" MONDO:0011345 "UMLS:C1970343" MONDO:0011345 "MESH:C567039" @@ -49358,28 +48193,22 @@ MONDO:0003538 "NCIT:C7055" MONDO:0003538 "DOID:5600" MONDO:0003538 "UMLS:C1335469" MONDO:0004570 "NCIT:C98963" +MONDO:0004570 "ICD10CM:K56.2" MONDO:0004570 "UMLS:C0042961" MONDO:0004570 "EFO:1000989" MONDO:0004570 "ICD9:560.2" MONDO:0004570 "DOID:8445" -MONDO:0004570 "ICD10:K56.2" MONDO:0004570 "SCTID:9707006" MONDO:0004570 "MESH:D045822" MONDO:0001109 "ICD9:383.20" -MONDO:0001109 "ICD10:H70.20" MONDO:0001109 "UMLS:C0155448" -MONDO:0001109 "ICD10:H70.219" -MONDO:0001109 "ICD10:H70.229" +MONDO:0001109 "ICD10CM:H70.2" MONDO:0001109 "MESH:D059270" MONDO:0001109 "SCTID:28593007" -MONDO:0001109 "ICD10:H70.209" MONDO:0001109 "ICD9:383.2" MONDO:0001109 "ICD9:383.22" -MONDO:0001109 "ICD10:H70.22" MONDO:0001109 "DOID:10755" MONDO:0001109 "ICD9:383.21" -MONDO:0001109 "ICD10:H70.21" -MONDO:0001109 "ICD10:H70.2" MONDO:0021107 "UMLS:C0027404" MONDO:0021107 "ICD9:347.00" MONDO:0021107 "DOID:8986" @@ -49393,50 +48222,45 @@ MONDO:0017272 "UMLS:CN202793" MONDO:0002268 "MESH:D004415" MONDO:0002268 "DOID:2321" MONDO:0002268 "NCIT:C26756" -MONDO:0002268 "ICD10:K30" MONDO:0002268 "EFO:0008533" -MONDO:0002268 "ICD10:R10.13" -MONDO:0001498 "ICD10:I86.1" MONDO:0001498 "SCTID:46871008" MONDO:0001498 "MESH:D014646" MONDO:0001498 "UMLS:C0042341" MONDO:0001498 "DOID:12337" +MONDO:0001498 "ICD10CM:I86.1" MONDO:0001498 "ICD9:456.4" MONDO:0015960 "UMLS:CN226804" MONDO:0015960 "Orphanet:183530" -MONDO:0009236 "ICD10:H35.5" MONDO:0009236 "SCTID:765191009" MONDO:0009236 "MESH:C562701" +MONDO:0009236 "ICD10CM:H35.5" MONDO:0009236 "UMLS:C0271257" MONDO:0009236 "Orphanet:99179" MONDO:0009236 "OMIM:228990" MONDO:0004698 "SCTID:92617001" -MONDO:0004698 "ICD10:D01.4" MONDO:0004698 "ICD9:230.7" MONDO:0004698 "UMLS:C0685941" MONDO:0004698 "DOID:9024" +MONDO:0023696 "OMIM:248810" MONDO:0023696 "GARD:0008745" MONDO:0023696 "UMLS:C0796036" MONDO:0023696 "MESH:C535913" MONDO:0010333 "MESH:C564509" MONDO:0010333 "DOID:0060816" MONDO:0010333 "Orphanet:52055" -MONDO:0010333 "ICD10:Q87.8" MONDO:0010333 "GARD:0012486" MONDO:0010333 "SCTID:722282008" +MONDO:0010333 "ICD10CM:Q87.8" MONDO:0010333 "OMIM:300472" MONDO:0005644 "DOID:9181" -MONDO:0005644 "ICD10:A06.9" MONDO:0005644 "ICD9:006" MONDO:0005644 "UMLS:C0002438" -MONDO:0005644 "ICD10:A06" MONDO:0005644 "NCIT:C84551" MONDO:0005644 "MESH:D000562" MONDO:0005644 "EFO:0007144" MONDO:0005644 "ICD9:006.9" MONDO:0008039 "OMIM:159580" MONDO:0008039 "DOID:321" -MONDO:0008039 "ICD10:G04.1" MONDO:0008039 "GARD:0008208" MONDO:0008039 "SCTID:714279000" MONDO:0008039 "EFO:0007527" @@ -49453,11 +48277,8 @@ MONDO:0003210 "NCIT:C35417" MONDO:0003210 "MESH:D018281" MONDO:0003210 "DOID:4928" MONDO:0003210 "UMLS:C0345905" -MONDO:0003210 "ICD10:C22.1" MONDO:0006727 "MESH:D054144" MONDO:0006727 "UMLS:C1135196" -MONDO:0006727 "ICD10:I50.3" -MONDO:0006727 "ICD10:I50.30" MONDO:0006727 "EFO:1000899" MONDO:0006727 "SCTID:418304008" MONDO:0006727 "ICD9:428.3" @@ -49465,15 +48286,15 @@ MONDO:0006727 "MedDRA:10069211" MONDO:0006727 "DOID:9775" MONDO:0006727 "ICD9:428.30" MONDO:0044333 "NCIT:C34366" -MONDO:0013766 "ICD10:L50.2" MONDO:0013766 "UMLS:C3280914" MONDO:0013766 "Orphanet:300359" +MONDO:0013766 "ICD10CM:L50.2" MONDO:0013766 "OMIM:614468" MONDO:0013766 "DOID:0090064" MONDO:0012512 "Orphanet:168566" MONDO:0012512 "DOID:0111486" MONDO:0012512 "SCTID:720951008" -MONDO:0012512 "ICD10:E88.8" +MONDO:0012512 "ICD10CM:E88.8" MONDO:0012512 "MESH:C566467" MONDO:0012512 "OMIM:610505" MONDO:0000486 "DOID:0050845" @@ -49481,19 +48302,16 @@ MONDO:0000486 "GARD:0010667" MONDO:0000486 "UMLS:C4023011" MONDO:0016132 "Orphanet:207015" MONDO:0004885 "ICD9:363.4" -MONDO:0004885 "ICD10:H31.10" MONDO:0004885 "SCTID:406446000" MONDO:0004885 "ICD9:363.40" MONDO:0004885 "OMIM:215500" MONDO:0004885 "MESH:C535358" MONDO:0004885 "DOID:980" -MONDO:0004885 "ICD10:H31.1" MONDO:0011774 "MESH:C564624" MONDO:0011774 "UMLS:C1846784" MONDO:0011774 "DOID:0110489" MONDO:0011774 "Orphanet:90636" MONDO:0011774 "OMIM:607101" -MONDO:0011774 "ICD10:H90.3" HP:0002683 "UMLS:C4280561" HP:0002683 "UMLS:C4025691" MONDO:0007331 "OMIM:119000" @@ -49513,7 +48331,7 @@ MONDO:0013953 "Orphanet:319547" MONDO:0013953 "OMIM:614889" MONDO:0013953 "UMLS:C4013947" MONDO:0013953 "Orphanet:319574" -MONDO:0017534 "ICD10:Q69.0" +MONDO:0017534 "ICD10CM:Q69.0" MONDO:0017534 "Orphanet:295169" MONDO:0017534 "UMLS:CN203265" MONDO:0000369 "DOID:0050599" @@ -49522,14 +48340,14 @@ MONDO:0000369 "ICD9:014.80" MONDO:0000369 "SCTID:447330002" MONDO:0012495 "GARD:0010057" MONDO:0012495 "OMIM:610442" -MONDO:0012495 "ICD10:Q77.7" MONDO:0012495 "MESH:C535785" MONDO:0012495 "Orphanet:168454" +MONDO:0012495 "ICD10CM:Q77.7" MONDO:0012495 "UMLS:C1864872" MONDO:0012495 "DOID:0080576" MONDO:0045056 "NCIT:C38937" MONDO:0045056 "UMLS:C1512259" -MONDO:0002067 "ICD10:C50.2" +MONDO:0002067 "ICD10CM:C50.2" MONDO:0002067 "ICD9:174.2" MONDO:0002067 "DOID:1647" MONDO:0002067 "SCTID:188152004" @@ -49544,9 +48362,9 @@ HP:0002870 "SNOMEDCT_US:78275009" MONDO:0001701 "SCTID:111798006" MONDO:0001701 "DOID:13386" MONDO:0001701 "UMLS:C0152945" +MONDO:0001701 "ICD10CM:A22.2" MONDO:0001701 "MESH:C571911" MONDO:0001701 "ICD9:022.2" -MONDO:0001701 "ICD10:A22.2" NCBITaxon:197911 "GC_ID:1" MONDO:0000779 "DOID:0060504" HP:0001650 "MSH:D001024" @@ -49560,10 +48378,10 @@ MONDO:0018975 "DOID:0111253" MONDO:0018975 "MESH:C538607" MONDO:0018975 "GARD:0007866" MONDO:0018975 "SCTID:92824003" +MONDO:0018975 "ICD10CM:Q85.0" MONDO:0018975 "MedDRA:10047712" MONDO:0018975 "OMIM:162210" MONDO:0018975 "OMIM:613675" -MONDO:0018975 "ICD10:Q85.0" MONDO:0018975 "Orphanet:363700" MONDO:0018975 "ICD9:237.71" MONDO:0018975 "OMIM:162200" @@ -49582,10 +48400,10 @@ MONDO:0000942 "NCIT:C26731" MONDO:0000942 "DOID:10124" MONDO:0000942 "MESH:D003316" MONDO:0000942 "ICD9:371.9" -MONDO:0000942 "ICD10:H18.9" MONDO:0000942 "UMLS:C0010034" MONDO:0000942 "ICD9:371.89" MONDO:0000942 "ICD9:371.30" +MONDO:0000942 "ICD10CM:H15-H22" MONDO:0000942 "SCTID:15250008" NCBITaxon:36826 "PMID:8863443" NCBITaxon:36826 "GC_ID:11" @@ -49594,10 +48412,10 @@ MONDO:0004327 "UMLS:C1336038" MONDO:0004327 "NCIT:C6838" MONDO:0009015 "GARD:0001529" MONDO:0009015 "UMLS:C1857572" -MONDO:0009015 "ICD10:H18.5" MONDO:0009015 "SCTID:720749004" MONDO:0009015 "OMIM:217400" MONDO:0009015 "MESH:C535473" +MONDO:0009015 "ICD10CM:H18.5" MONDO:0009015 "Orphanet:1490" MONDO:0009015 "DOID:0111620" MONDO:0011418 "OMIM:604254" @@ -49630,12 +48448,12 @@ MONDO:0009330 "Orphanet:2126" MONDO:0009330 "UMLS:C0334542" MONDO:0017122 "Orphanet:269573" MONDO:0017122 "UMLS:CN202475" -NCBITaxon:1980456 "GC_ID:1" NCBITaxon:2129 "PMID:1906731" NCBITaxon:2129 "GC_ID:4" NCBITaxon:2129 "PMID:11034506" NCBITaxon:2129 "PMID:2223597" NCBITaxon:2129 "PMID:8782697" +NCBITaxon:1980456 "GC_ID:1" MONDO:0043283 "EFO:1001855" MONDO:0043283 "MESH:C537337" MONDO:0043283 "GARD:0008372" @@ -49643,11 +48461,11 @@ MONDO:0043283 "UMLS:C0018929" MONDO:0043283 "SCTID:34004002" MONDO:0020517 "MedDRA:10014956" MONDO:0020517 "ICD9:277.89" +MONDO:0020517 "ICD10CM:C96.6" MONDO:0020517 "ICDO:9752/1" MONDO:0020517 "SCTID:129000002" MONDO:0020517 "Orphanet:99871" MONDO:0020517 "MESH:D004803" -MONDO:0020517 "ICD10:C96.6" MONDO:0020517 "UMLS:C0014461" MONDO:0020517 "NCIT:C3016" MONDO:0004172 "DOID:7281" @@ -49655,6 +48473,7 @@ MONDO:0008459 "MESH:C566668" MONDO:0008459 "UMLS:C1866746" MONDO:0008459 "OMIM:183100" MONDO:0006372 "SCTID:608817003" +MONDO:0006372 "ICD10CM:C71.9" MONDO:0006372 "Orphanet:251623" MONDO:0006372 "ONCOTREE:PTCY" MONDO:0006372 "ICDO:9432/1" @@ -49662,26 +48481,25 @@ MONDO:0006372 "EFO:1000477" MONDO:0006372 "UMLS:C2986550" MONDO:0006372 "ICD9:237.0" MONDO:0006372 "NCIT:C94524" -MONDO:0006372 "ICD10:C71.9" -MONDO:0013485 "ICD10:G11.8" MONDO:0013485 "GARD:0012366" MONDO:0013485 "OMIM:613908" +MONDO:0013485 "ICD10CM:G11.8" MONDO:0013485 "UMLS:C4304822" MONDO:0013485 "UMLS:CN202597" MONDO:0013485 "DOID:0050982" MONDO:0013485 "Orphanet:276193" MONDO:0013485 "SCTID:719300001" +MONDO:0014127 "ICD10CM:E70.3" MONDO:0014127 "SCTID:722057000" MONDO:0014127 "Orphanet:370091" MONDO:0014127 "DOID:0070099" MONDO:0014127 "UMLS:CN204842" MONDO:0014127 "OMIM:615312" -MONDO:0014127 "ICD10:E70.3" MONDO:0056804 "DOID:0080320" MONDO:0009401 "DOID:0080543" MONDO:0009401 "SCTID:717181004" MONDO:0009401 "MedDRA:10058512" -MONDO:0009401 "ICD10:E72.5" +MONDO:0009401 "ICD10CM:E72.5" MONDO:0009401 "MESH:C538385" MONDO:0009401 "Orphanet:79101" MONDO:0009401 "MedDRA:10058514" @@ -49700,19 +48518,19 @@ MONDO:0043166 "UMLS:C2931040" MONDO:0043166 "GARD:0004208" MONDO:0014010 "DOID:0060718" MONDO:0014010 "OMIM:615023" -MONDO:0014010 "ICD10:Q80.2" MONDO:0014010 "UMLS:C3554349" MONDO:0014010 "Orphanet:79394" +MONDO:0100010 "ICD10CM:M65-M67" MONDO:0100010 "SCTID:68172002" MONDO:0100010 "EFO:1001434" MONDO:0015093 "Orphanet:101029" -MONDO:0015093 "ICD10:Q04.8" +MONDO:0015093 "ICD10CM:Q04.8" MONDO:0032765 "OMIM:618462" MONDO:0013368 "SCTID:718679004" MONDO:0013368 "UMLS:C3150946" +MONDO:0013368 "ICD10CM:Q87.2" MONDO:0013368 "Orphanet:238744" MONDO:0013368 "OMIM:613689" -MONDO:0013368 "ICD10:Q87.2" MONDO:0000651 "DOID:0060118" MONDO:0000651 "UMLS:C3661979" MONDO:0000651 "NCIT:C35742" @@ -49737,13 +48555,12 @@ MONDO:0021066 "ICD9:239.5" MONDO:0021066 "NCIT:C3431" MONDO:0021066 "ONCOTREE:BLADDER" MONDO:0001703 "UMLS:CN207064" +MONDO:0001703 "ICD10CM:H53.5" MONDO:0001703 "NCIT:C3891" -MONDO:0001703 "ICD10:H53.5" MONDO:0001703 "Orphanet:98658" MONDO:0001703 "DOID:13399" MONDO:0001703 "ICD9:368.59" MONDO:0001703 "SCTID:193683001" -MONDO:0001703 "ICD10:H53.50" MONDO:0001703 "UMLS:C0009398" MONDO:0001703 "UMLS:C0242225" MONDO:0001703 "ICD9:368.5" @@ -49765,7 +48582,6 @@ MONDO:0009509 "Orphanet:1945" MONDO:0009509 "EFO:1001010" MONDO:0009509 "DOID:2538" MONDO:0009509 "MESH:D018887" -MONDO:0009509 "ICD10:G40.8" MONDO:0009509 "Orphanet:725" MONDO:0009509 "Orphanet:98818" MONDO:0009509 "Orphanet:163721" @@ -49783,14 +48599,13 @@ MONDO:0018116 "UMLS:C0016952" MONDO:0018116 "DOID:9870" MONDO:0018116 "OMIM:230200" MONDO:0018116 "ICD9:271.1" +MONDO:0018116 "ICD10CM:E74.2" MONDO:0018116 "OMIM:230400" MONDO:0018116 "OMIMPS:230400" MONDO:0018116 "Orphanet:352" MONDO:0018116 "MESH:D005693" MONDO:0018116 "NCIT:C84723" -MONDO:0018116 "ICD10:E74.2" MONDO:0018116 "OMIM:230350" -MONDO:0018116 "ICD10:E74.21" MONDO:0018116 "SCTID:190745006" MONDO:0018116 "GARD:0002424" MONDO:0018116 "MedDRA:10017604" @@ -49805,8 +48620,8 @@ MONDO:0013758 "UMLS:C3280845" MONDO:0013758 "GARD:0012011" MONDO:0013758 "OMIM:614455" MONDO:0013758 "Orphanet:93114" +MONDO:0013758 "ICD10CM:G60.0" MONDO:0013758 "DOID:0110205" -MONDO:0013758 "ICD10:G60.0" MONDO:0013758 "SCTID:722294004" MONDO:0013758 "UMLS:C4302667" MONDO:0043589 "SCTID:5913000" @@ -49824,13 +48639,12 @@ HP:0000099 "UMLS:C0017658" HP:0000099 "SNOMEDCT_US:36171008" CL:0000077 "FMA:66773" MONDO:0017357 "UMLS:CN203020" -MONDO:0017357 "ICD10:P74.8" +MONDO:0017357 "ICD10CM:P74.8" MONDO:0017357 "Orphanet:289877" HP:0010668 "UMLS:C4023749" +MONDO:0020392 "ICD10CM:Q24.4" MONDO:0020392 "Orphanet:99051" MONDO:0020392 "OMIM:271950" -MONDO:0020392 "ICD10:Q24.4" -MONDO:0002212 "ICD10:A21.2" MONDO:0002212 "UMLS:C0339946" MONDO:0002212 "SCTID:45556008" MONDO:0002212 "ICD9:021.2" @@ -49843,8 +48657,8 @@ NCBITaxon:63417 "GC_ID:1" NCBITaxon:39744 "GC_ID:1" MONDO:0015399 "UMLS:C4303569" MONDO:0015399 "UMLS:CN199497" -MONDO:0015399 "ICD10:Q38.3" MONDO:0015399 "Orphanet:141163" +MONDO:0015399 "ICD10CM:Q38.3" MONDO:0015399 "SCTID:717814004" HP:0002486 "SNOMEDCT_US:3434004" HP:0002486 "MSH:D009222" @@ -49854,7 +48668,7 @@ MONDO:0016345 "Orphanet:217720" MONDO:0016345 "UMLS:CN226908" MONDO:0016612 "Orphanet:247765" MONDO:0016612 "DOID:0050953" -MONDO:0016612 "ICD10:G11.1" +MONDO:0016612 "ICD10CM:G11.1" NCBITaxon:35324 "GC_ID:1" MONDO:0000430 "DOID:0050749" MONDO:0000430 "SCTID:109977009" @@ -49862,8 +48676,8 @@ MONDO:0000430 "GARD:0007368" MONDO:0000430 "ICDO:9702/3" MONDO:0000430 "MESH:D016411" MONDO:0000430 "DOID:0050743" -MONDO:0000430 "ICD10:C84.4" MONDO:0000430 "NCIT:C3468" +MONDO:0000430 "ICD10CM:C84.4" MONDO:0003653 "SCTID:254211001" MONDO:0003653 "DOID:5806" MONDO:0011061 "MESH:C535355" @@ -49890,15 +48704,14 @@ MONDO:0004033 "DOID:6901" MONDO:0016228 "Orphanet:211237" MONDO:0017786 "SCTID:766816008" MONDO:0017786 "UMLS:CN203736" -MONDO:0017786 "ICD10:Q92.3" MONDO:0017786 "Orphanet:313947" -MONDO:0018860 "ICD10:Q04.3" MONDO:0018860 "Orphanet:50810" +MONDO:0018860 "ICD10CM:Q04.3" MONDO:0018860 "UMLS:CN205181" MONDO:0008624 "MESH:C536472" MONDO:0008624 "UMLS:C1860596" MONDO:0008624 "Orphanet:3408" -MONDO:0008624 "ICD10:M91.8" +MONDO:0008624 "ICD10CM:M91.8" MONDO:0008624 "OMIM:191520" MONDO:0008624 "GARD:0005421" MONDO:0008624 "SCTID:719041000" @@ -49906,9 +48719,9 @@ MONDO:0001871 "UMLS:C0341689" MONDO:0001871 "NCIT:C35587" MONDO:0001871 "SCTID:197585004" MONDO:0001871 "DOID:14066" -MONDO:0001524 "ICD9:360.29" -MONDO:0001524 "ICD10:H44.39" +MONDO:0001524 "ICD10CM:H43-H44" MONDO:0001524 "DOID:1242" +MONDO:0001524 "ICD9:360.29" MONDO:0007774 "MESH:D012021" MONDO:0007774 "OMIM:145290" MONDO:0007774 "HP:0001347" @@ -49922,13 +48735,10 @@ MONDO:0027772 "NCIT:C45512" MONDO:0027772 "DOID:0080303" MONDO:0004900 "ICD9:386.10" MONDO:0004900 "ICD9:386.1" -MONDO:0004900 "ICD10:H81.399" MONDO:0004900 "ICD9:386.19" MONDO:0004900 "DOID:9847" MONDO:0004900 "UMLS:C0155501" MONDO:0004900 "SCTID:50438001" -MONDO:0004900 "ICD10:H81.3" -MONDO:0004900 "ICD10:H81.39" NCBITaxon:11655 "GC_ID:1" MONDO:0021010 "SCTID:62497000" MONDO:0021010 "ICD9:171.2" @@ -49943,12 +48753,12 @@ MONDO:0008592 "DOID:0111565" MONDO:0008592 "SCTID:38993008" MONDO:0008592 "Orphanet:3352" MONDO:0008592 "ICD9:759.89" -MONDO:0008592 "ICD10:Q82.4" +MONDO:0008592 "ICD10CM:Q82.4" MONDO:0008928 "MESH:C538283" MONDO:0008928 "OMIM:212710" -MONDO:0008928 "ICD10:G11.2" MONDO:0008928 "GARD:0001141" MONDO:0008928 "Orphanet:1368" +MONDO:0008928 "ICD10CM:G11.2" MONDO:0008928 "UMLS:C0796123" MONDO:0032604 "OMIM:618220" MONDO:0019721 "UMLS:CN227683" @@ -49958,15 +48768,14 @@ MONDO:0008811 "UMLS:C0795952" MONDO:0008811 "SCTID:277921008" MONDO:0008811 "MESH:C536767" MONDO:0008811 "OMIM:207770" -MONDO:0008811 "ICD10:Q04.3" +MONDO:0008811 "ICD10CM:Q04.3" MONDO:0008811 "Orphanet:3469" MONDO:0010006 "UMLS:C0036161" +MONDO:0010006 "ICD10CM:E75.0" MONDO:0010006 "DOID:3323" MONDO:0010006 "Orphanet:309155" MONDO:0010006 "Orphanet:796" -MONDO:0010006 "ICD10:E75.01" MONDO:0010006 "MESH:D012497" -MONDO:0010006 "ICD10:E75.0" MONDO:0010006 "Orphanet:309169" MONDO:0010006 "NCIT:C85052" MONDO:0010006 "GARD:0007604" @@ -49974,6 +48783,7 @@ MONDO:0010006 "Orphanet:309162" MONDO:0010006 "GARD:0002521" MONDO:0010006 "OMIM:268800" MONDO:0010006 "SCTID:23849003" +MONDO:0010006 "ICD10CM:E75.01" MONDO:0008070 "MESH:C580202" MONDO:0008070 "DOID:0110927" MONDO:0008070 "Orphanet:607" @@ -49994,10 +48804,9 @@ MONDO:0000253 "SCTID:402135006" MONDO:0000253 "UMLS:C0031898" MONDO:0000253 "MESH:D010854" MONDO:0019849 "Orphanet:95707" -MONDO:0019849 "ICD10:Q55.6" +MONDO:0019849 "ICD10CM:Q55.6" NCBITaxon:1338369 "GC_ID:1" MONDO:0011189 "UMLS:C1865881" -MONDO:0011189 "ICD10:I42.8" MONDO:0011189 "DOID:0110073" MONDO:0011189 "Orphanet:217656" MONDO:0011189 "OMIM:602087" @@ -50013,7 +48822,7 @@ MONDO:0011579 "GARD:0004357" MONDO:0011579 "UMLS:C1854065" MONDO:0011579 "MESH:C565309" MONDO:0019604 "Orphanet:91136" -MONDO:0019604 "ICD10:E72.0" +MONDO:0019604 "ICD10CM:E72.0" MONDO:0019604 "SCTID:724099000" MONDO:0019604 "UMLS:C4510369" MONDO:0019604 "UMLS:CN206457" @@ -50025,10 +48834,10 @@ MONDO:0024630 "SCTID:234580003" MONDO:0024630 "UMLS:C0398735" MONDO:0012521 "Orphanet:1930" MONDO:0012521 "OMIM:610551" -MONDO:0012521 "ICD10:G05.1*" MONDO:0012521 "NCIT:C84762" +MONDO:0012521 "ICD10EXP:G05.1*" MONDO:0012521 "OMIM:614850" -MONDO:0012521 "ICD10:B00.4+" +MONDO:0012521 "ICD10EXP:B00.4+" MONDO:0012521 "MESH:D020803" MONDO:0012521 "OMIM:613002" MONDO:0012521 "OMIM:616532" @@ -50052,16 +48861,15 @@ MONDO:0005183 "ICD9:620.2" MONDO:0004894 "UMLS:C0152209" MONDO:0004894 "SCTID:70486007" MONDO:0004894 "DOID:9838" -MONDO:0004894 "ICD10:H50.41" MONDO:0004894 "ICD9:378.33" HP:0000606 "UMLS:C4025837" MONDO:0010177 "Orphanet:3018" -MONDO:0010177 "ICD10:E78.8" MONDO:0010177 "OMIM:277175" MONDO:0010177 "GARD:0004635" MONDO:0010177 "MESH:C564750" +MONDO:0010177 "ICD10CM:E78.8" MONDO:0020242 "SCTID:276436007" -MONDO:0020242 "ICD10:H35.5" +MONDO:0020242 "ICD10CM:H35.5" MONDO:0020242 "NCIT:C140264" MONDO:0020242 "Orphanet:98664" MONDO:0002674 "ICD9:593.3" @@ -50076,14 +48884,13 @@ MONDO:0022672 "GARD:0001143" MONDO:0013923 "UMLS:C3553886" MONDO:0013923 "DOID:0070292" MONDO:0013923 "OMIM:614852" +MONDO:0005027 "ICD10CM:G40" MONDO:0005027 "DOID:1826" MONDO:0005027 "ICD9:345.9" MONDO:0005027 "SCTID:84757009" MONDO:0005027 "ICD9:345.90" -MONDO:0005027 "ICD10:G40.909" -MONDO:0005027 "ICD10:G40" +MONDO:0005027 "ICD10CM:G40-G47" MONDO:0005027 "MESH:D004827" -MONDO:0005027 "ICD10:G40.9" MONDO:0005027 "NCIT:C3020" MONDO:0005027 "ICD9:345.80" MONDO:0005027 "ICD9:345" @@ -50099,29 +48906,29 @@ MONDO:0006585 "EFO:1000740" MONDO:0006585 "UMLS:C0027822" MONDO:0006585 "NCIT:C111963" MONDO:0006585 "MESH:D009450" +MONDO:0037746 "NCIT:C40276" +MONDO:0037746 "UMLS:C1512974" MONDO:0009395 "GARD:0002833" MONDO:0009395 "OMIM:607636" MONDO:0009395 "SCTID:59763006" +MONDO:0009395 "ICD10CM:M85.2" MONDO:0009395 "OMIM:239100" MONDO:0009395 "Orphanet:3416" MONDO:0009395 "NCIT:C131812" -MONDO:0009395 "ICD10:M85.2" MONDO:0009395 "DOID:0080036" -MONDO:0037746 "NCIT:C40276" -MONDO:0037746 "UMLS:C1512974" -MONDO:0015991 "ICD10:E72.2" MONDO:0015991 "SCTID:398680004" MONDO:0015991 "NCIT:C84639" MONDO:0015991 "OMIM:605814" MONDO:0015991 "MESH:D020159" -MONDO:0015991 "ICD10:E72.23" +MONDO:0015991 "ICD10CM:E72.23" MONDO:0015991 "OMIM:603471" MONDO:0015991 "SCTID:124711003" MONDO:0015991 "UMLS:C0175683" MONDO:0015991 "DOID:9273" MONDO:0015991 "OMIM:215700" +MONDO:0015991 "ICD10CM:E72.2" MONDO:0015991 "Orphanet:187" -MONDO:0017218 "ICD10:Q04.2" +MONDO:0017218 "ICD10CM:Q04.2" MONDO:0017218 "Orphanet:280195" MONDO:0017218 "OMIM:609637" MONDO:0017218 "OMIM:610829" @@ -50131,11 +48938,12 @@ MONDO:0009961 "OMIM:266810" MONDO:0009961 "MESH:C564853" MONDO:0009961 "UMLS:C1849439" MONDO:0008403 "OMIM:181250" +MONDO:0008403 "ICD10CM:Q87.2" MONDO:0008403 "Orphanet:1003" -MONDO:0008403 "ICD10:Q87.2" MONDO:0008403 "MESH:C536622" MONDO:0008403 "UMLS:C1867021" MONDO:0008403 "GARD:0000241" +MONDO:0100318 "ICD10CM:U00-U85" MONDO:0012066 "UMLS:C1843687" MONDO:0012066 "OMIM:608583" MONDO:0012066 "Orphanet:334" @@ -50156,16 +48964,16 @@ MONDO:0002861 "UMLS:C1336727" MONDO:0002861 "NCIT:C6359" MONDO:0011815 "OMIM:607329" MONDO:0011815 "UMLS:C1846430" -MONDO:0010750 "ICD10:Q73.8" +MONDO:0010750 "ICD10CM:Q73.8" MONDO:0010750 "UMLS:C1839123" MONDO:0010750 "Orphanet:1122" MONDO:0010750 "OMIM:314360" MONDO:0010750 "GARD:0005400" MONDO:0010750 "MESH:C536936" +MONDO:0022171 "ICD10CM:L75.1" MONDO:0022171 "GARD:0010749" MONDO:0022171 "SCTID:26147006" MONDO:0022171 "ICD9:705.89" -MONDO:0022171 "ICD10:L75.1" MONDO:0015178 "Orphanet:104003" MONDO:0002928 "NCIT:C34448" MONDO:0002928 "ICDO:8980/3" @@ -50180,42 +48988,42 @@ MONDO:0021966 "GARD:0000808" MONDO:0021966 "MESH:C537899" MONDO:0040732 "SCTID:11218009" MONDO:0040732 "UMLS:C0276075" -MONDO:0019995 "UMLS:CN206931" -MONDO:0019995 "OMIM:609893" -MONDO:0019995 "UMLS:C4273673" -MONDO:0019995 "GARD:0012734" -MONDO:0019995 "SCTID:718193005" -MONDO:0019995 "Orphanet:97927" -MONDO:0019995 "ICD10:E03.1" -MONDO:0019995 "OMIM:614450" MONDO:0009198 "MESH:C535513" MONDO:0009198 "GARD:0002192" MONDO:0009198 "OMIM:227090" -MONDO:0009198 "ICD10:Q82.8" MONDO:0009198 "SCTID:722391005" MONDO:0009198 "Orphanet:1954" +MONDO:0009198 "ICD10CM:Q82.8" MONDO:0013253 "OMIM:613399" MONDO:0013253 "Orphanet:145" MONDO:0013253 "Orphanet:227535" +MONDO:0019995 "UMLS:CN206931" +MONDO:0019995 "OMIM:609893" +MONDO:0019995 "UMLS:C4273673" +MONDO:0019995 "ICD10CM:E03.1" +MONDO:0019995 "GARD:0012734" +MONDO:0019995 "SCTID:718193005" +MONDO:0019995 "Orphanet:97927" +MONDO:0019995 "OMIM:614450" MONDO:0005435 "EFO:0004826" MONDO:0007635 "MESH:D052159" MONDO:0007635 "OMIM:136680" MONDO:0007635 "DOID:0050438" MONDO:0007635 "UMLS:C0950122" +MONDO:0007635 "ICD10CM:N04.1" MONDO:0007635 "SCTID:445431000" MONDO:0007635 "GARD:0002375" MONDO:0007635 "ICD9:759.89" -MONDO:0007635 "ICD10:N04.1" MONDO:0007635 "NCIT:C122805" MONDO:0007635 "Orphanet:347" MONDO:0010008 "UMLS:C0268563" MONDO:0010008 "GARD:0000158" MONDO:0010008 "MESH:C537236" MONDO:0010008 "MedDRA:10059299" +MONDO:0010008 "ICD10CM:E72.5" MONDO:0010008 "ICD9:270.8" MONDO:0010008 "OMIM:268900" MONDO:0010008 "Orphanet:3129" -MONDO:0010008 "ICD10:E72.5" MONDO:0010008 "SCTID:64852002" MONDO:0004697 "NCIT:C3953" MONDO:0004697 "HP:0012859" @@ -50239,6 +49047,7 @@ MONDO:0014694 "Orphanet:2311" MONDO:0002106 "ICD9:386.55" MONDO:0002106 "DOID:1776" MONDO:0002106 "UMLS:C0155519" +MONDO:0008009 "ICD10CM:Q84.1" MONDO:0008009 "GARD:0000093" MONDO:0008009 "DOID:0050472" MONDO:0008009 "SCTID:69488000" @@ -50246,38 +49055,37 @@ MONDO:0008009 "UMLS:C0546966" MONDO:0008009 "NCIT:C84894" MONDO:0008009 "MESH:D056734" MONDO:0008009 "OMIM:158000" -MONDO:0008009 "ICD10:Q84.1" +MONDO:0008009 "OMIM:252200" MONDO:0008009 "Orphanet:573" -MONDO:0014870 "ICD10:Q77.2" MONDO:0014870 "Orphanet:464366" MONDO:0014870 "OMIM:617022" MONDO:0014870 "UMLS:C4310760" +MONDO:0014870 "ICD10CM:Q77.2" MONDO:0019494 "Orphanet:875" -MONDO:0019494 "ICD10:C38.0" +MONDO:0019494 "ICD10CM:C38.0" +MONDO:0019494 "ICD10CM:D15.1" MONDO:0019494 "UMLS:CN206281" -MONDO:0019494 "ICD10:D15.1" MONDO:0001390 "UMLS:C0155000" MONDO:0001390 "SCTID:81519008" MONDO:0001390 "DOID:11850" MONDO:0001390 "ICD9:367.81" -MONDO:0019147 "Orphanet:75110" -MONDO:0019147 "NCIT:C128400" +MONDO:0019147 "ICD10CM:B87.8" +MONDO:0019147 "ICD10CM:B87.4" +MONDO:0019147 "MESH:D009198" +MONDO:0019147 "ICD10CM:B87.3" MONDO:0019147 "UMLS:C0027030" +MONDO:0019147 "ICD10CM:B87.9" MONDO:0019147 "DOID:11080" -MONDO:0019147 "MESH:D009198" -MONDO:0019147 "ICD10:B87.4" -MONDO:0019147 "ICD9:134.0" -MONDO:0019147 "EFO:0007389" +MONDO:0019147 "ICD10CM:B87.0" MONDO:0019147 "MedDRA:10028586" +MONDO:0019147 "ICD10CM:B87.2" +MONDO:0019147 "NCIT:C128400" +MONDO:0019147 "Orphanet:75110" MONDO:0019147 "SCTID:60412004" -MONDO:0019147 "ICD10:B87.2" -MONDO:0019147 "ICD10:B87.8" -MONDO:0019147 "ICD10:B87.3" -MONDO:0019147 "ICD10:B87" -MONDO:0019147 "ICD10:B87.9" -MONDO:0019147 "ICD10:B87.0" -MONDO:0019147 "ICD10:B87.1" -MONDO:0017060 "ICD10:Q00.2" +MONDO:0019147 "ICD9:134.0" +MONDO:0019147 "ICD10CM:B87.1" +MONDO:0019147 "EFO:0007389" +MONDO:0017060 "ICD10CM:Q00.2" MONDO:0017060 "SCTID:203928008" MONDO:0017060 "Orphanet:268363" MONDO:0006188 "EFO:1000228" @@ -50288,24 +49096,24 @@ MONDO:0021674 "SCTID:123948009" MONDO:0016985 "UMLS:CN202288" MONDO:0016985 "EFO:1000395" MONDO:0016985 "Orphanet:263432" -MONDO:0016985 "ICD10:D22.6" MONDO:0016985 "UMLS:C0022283" MONDO:0016985 "NCIT:C7582" MONDO:0016985 "GARD:0010830" +MONDO:0016985 "ICD10CM:D22.6" MONDO:0016638 "OMIM:616004" MONDO:0016638 "UMLS:CN201839" +MONDO:0016638 "ICD10CM:D68.2" MONDO:0016638 "Orphanet:248408" -MONDO:0016638 "ICD10:D68.2" -MONDO:0016814 "MESH:C536035" MONDO:0016814 "Orphanet:255210" -MONDO:0016814 "ICD10:G31.8" +MONDO:0016814 "MESH:C536035" MONDO:0016814 "SCTID:717052002" MONDO:0016814 "OMIM:256000" MONDO:0016814 "GARD:0003671" +MONDO:0016814 "ICD10CM:G31.8" +MONDO:0020477 "Orphanet:99706" MONDO:0004705 "NCIT:C5752" MONDO:0004705 "UMLS:C1333965" MONDO:0004705 "DOID:907" -MONDO:0020477 "Orphanet:99706" MONDO:0003679 "UMLS:C0262565" MONDO:0003679 "MESH:D056988" MONDO:0003679 "DOID:5855" @@ -50315,17 +49123,15 @@ MONDO:0007130 "NCIT:C85056" MONDO:0007130 "SCTID:111323005" MONDO:0007130 "MESH:D012587" MONDO:0007130 "SCTID:39905002" -MONDO:0007130 "ICD10:Q26.8" MONDO:0007130 "OMIM:106700" -MONDO:0007130 "ICD10:Q26.2" MONDO:0007130 "NCIT:C98585" MONDO:0007130 "EFO:1001167" MONDO:0007130 "ICD9:747.41" MONDO:0007130 "DOID:4297" CL:1000391 "FMA:59175" -MONDO:0013056 "ICD10:G31.8" MONDO:0013056 "MESH:C567847" MONDO:0013056 "SCTID:726702005" +MONDO:0013056 "ICD10CM:G31.8" MONDO:0013056 "DOID:0080349" MONDO:0013056 "UMLS:C4512050" MONDO:0013056 "OMIM:612949" @@ -50337,19 +49143,21 @@ MONDO:0012300 "OMIM:609558" MONDO:0011744 "UMLS:C1847197" MONDO:0011744 "OMIM:606893" MONDO:0011744 "Orphanet:140436" -MONDO:0011744 "ICD10:D18.0" +MONDO:0011744 "ICD10CM:D18.0" MONDO:0011744 "SCTID:764100007" MONDO:0011744 "MESH:C564648" MONDO:0020713 "OMIM:265450" +MONDO:0003939 "ICD10CM:G70-G73" +MONDO:0003939 "ICD10CM:M60-M63" MONDO:0003939 "DOID:66" MONDO:0019565 "MedDRA:10047715" MONDO:0019565 "GARD:0007867" MONDO:0019565 "Orphanet:903" MONDO:0019565 "MESH:D014842" -MONDO:0019565 "ICD10:D68.0" MONDO:0019565 "SCTID:234446004" MONDO:0019565 "SCTID:128105004" MONDO:0019565 "OMIM:314560" +MONDO:0019565 "ICD10CM:D68.0" MONDO:0019565 "OMIM:193400" MONDO:0019565 "ICD9:286.4" MONDO:0019565 "MESH:C531844" @@ -50357,24 +49165,23 @@ MONDO:0019565 "OMIM:613554" MONDO:0019565 "DOID:12531" MONDO:0019565 "NCIT:C68677" MONDO:0019565 "UMLS:C0042974" -MONDO:0019565 "ICD10:D69.8" MONDO:0019565 "OMIM:277480" NCBITaxon:6684 "GC_ID:1" +MONDO:0018368 "ICD10CM:C48.1" MONDO:0018368 "NCIT:C7695" -MONDO:0018368 "ICD10:C48.1" +MONDO:0018368 "ICD10CM:C48.2" +MONDO:0018368 "ICD10CM:C48.8" MONDO:0018368 "DOID:6228" MONDO:0018368 "Orphanet:398980" -MONDO:0018368 "ICD10:C48.2" MONDO:0018368 "UMLS:CN205035" -MONDO:0018368 "ICD10:C48.0" -MONDO:0018368 "ICD10:C48.8" +MONDO:0018368 "ICD10CM:C48.0" MONDO:0018368 "UMLS:C1368918" MONDO:0008162 "OMIM:166760" MONDO:0013925 "Orphanet:26" MONDO:0013925 "Orphanet:369955" -MONDO:0013925 "ICD10:E71.1" MONDO:0013925 "UMLS:C3553915" MONDO:0013925 "OMIM:614857" +MONDO:0013925 "ICD10CM:E71.1" MONDO:0013925 "GARD:0012621" MONDO:0015802 "DOID:0060307" MONDO:0015802 "Orphanet:178469" @@ -50404,45 +49211,44 @@ MONDO:0044303 "OMIM:617364" MONDO:0044303 "UMLS:C4479250" MONDO:0019880 "Orphanet:96097" MONDO:0019880 "SCTID:763274002" -MONDO:0019880 "ICD10:Q92.3" +MONDO:0015908 "ICD10CM:B43.8" MONDO:0015908 "ICD9:117.2" -MONDO:0015908 "UMLS:C3245522" -MONDO:0015908 "UMLS:C0008582" -MONDO:0015908 "ICD10:B43.9" -MONDO:0015908 "SCTID:187079000" -MONDO:0015908 "MedDRA:10008803" -MONDO:0015908 "ICD10:B43.8" -MONDO:0015908 "ICD10:B43.1" -MONDO:0015908 "GARD:0001319" -MONDO:0015908 "ICD10:B43.2" +MONDO:0015908 "ICD10CM:B43.9" MONDO:0015908 "MESH:D002862" +MONDO:0015908 "ICD10CM:B43.1" +MONDO:0015908 "ICD10CM:B43.0" +MONDO:0015908 "MedDRA:10008803" +MONDO:0015908 "SCTID:187079000" +MONDO:0015908 "DOID:1562" +MONDO:0015908 "UMLS:C3245522" MONDO:0015908 "Orphanet:182" MONDO:0015908 "EFO:0007207" -MONDO:0015908 "ICD10:B43.0" -MONDO:0015908 "DOID:1562" +MONDO:0015908 "UMLS:C0008582" +MONDO:0015908 "ICD10CM:B43.2" +MONDO:0015908 "GARD:0001319" NCBITaxon:160 "GC_ID:11" MONDO:0004289 "UMLS:C0280329" MONDO:0004289 "DOID:7583" MONDO:0004289 "NCIT:C8189" MONDO:0018683 "SCTID:8691004" -MONDO:0018683 "ICD10:L85.0" +MONDO:0018683 "ICD10CM:L85.0" MONDO:0018683 "Orphanet:454" -MONDO:0018683 "NCIT:C112831" MONDO:0018683 "MESH:C538175" +MONDO:0018683 "NCIT:C112831" MONDO:0018683 "GARD:0000476" MONDO:0009564 "ICD9:759.89" MONDO:0009564 "OMIM:248700" MONDO:0009564 "SCTID:449824004" -MONDO:0009564 "ICD10:Q87.0" MONDO:0009564 "Orphanet:2461" MONDO:0009564 "GARD:0006973" MONDO:0009564 "MESH:C535910" +MONDO:0009564 "ICD10CM:Q87.0" MONDO:0008794 "UMLS:C4225670" MONDO:0008794 "OMIM:206600" MONDO:0014119 "Orphanet:363528" MONDO:0014119 "OMIM:615286" MONDO:0014119 "UMLS:C3809039" -MONDO:0014119 "ICD10:H50.8" +MONDO:0014119 "ICD10CM:H50.8" MONDO:0008062 "OMIM:161400" MONDO:0008062 "SCTID:46263000" MONDO:0008062 "NCIT:C84618" @@ -50451,7 +49257,7 @@ MONDO:0008062 "UMLS:C1834372" HP:0000496 "UMLS:C0497202" HP:0000496 "SNOMEDCT_US:103252009" MONDO:0008876 "ICD9:757.39" -MONDO:0008876 "ICD10:Q82.2" +MONDO:0008876 "ICD10CM:Q82.2" MONDO:0008876 "MESH:D001816" MONDO:0008876 "SCTID:4434006" MONDO:0008876 "Orphanet:125" @@ -50467,10 +49273,10 @@ MONDO:0014505 "DOID:0080444" MONDO:0006878 "EFO:1001072" MONDO:0006878 "MESH:D045828" MONDO:0015039 "Orphanet:100016" -MONDO:0015039 "ICD10:Q04.3" MONDO:0015039 "SCTID:715822007" MONDO:0015039 "UMLS:C4274989" MONDO:0015039 "UMLS:CN228905" +MONDO:0015039 "ICD10CM:Q04.3" MONDO:0007824 "OMIM:147330" MONDO:0032817 "DOID:0070346" MONDO:0032817 "OMIM:618571" @@ -50490,7 +49296,6 @@ MONDO:0024656 "NCIT:C96498" MONDO:0024656 "UMLS:C3272822" MONDO:0001108 "ICD9:183.3" MONDO:0001108 "DOID:10744" -MONDO:0001108 "ICD10:C57.1" MONDO:0001108 "UMLS:C0346866" MONDO:0001108 "SCTID:449259009" MONDO:0002666 "NCIT:C5720" @@ -50499,13 +49304,13 @@ MONDO:0002666 "UMLS:C1335317" MONDO:0021106 "UMLS:CN236383" MONDO:0021106 "Orphanet:98301" MONDO:0016417 "Orphanet:2271" -MONDO:0016417 "ICD10:Q87.8" +MONDO:0016417 "ICD10CM:Q87.8" MONDO:0017975 "MESH:D058533" MONDO:0017975 "Orphanet:325546" MONDO:0024864 "UMLS:C0278868" MONDO:0024864 "NCIT:C9090" -MONDO:0027048 "OMIM:400047" MONDO:0027048 "DOID:0111758" +MONDO:0027048 "OMIM:400047" MONDO:0009939 "OMIM:265600" MONDO:0009939 "MESH:C562895" MONDO:0009939 "UMLS:C0403552" @@ -50516,17 +49321,17 @@ MONDO:0012691 "OMIM:611554" MONDO:0012691 "MESH:C537117" MONDO:0012691 "DOID:0080549" MONDO:0015679 "OMIM:612004" -MONDO:0015679 "ICD10:D69.4" +MONDO:0015679 "ICD10CM:D69.4" MONDO:0015679 "OMIM:188000" MONDO:0015679 "UMLS:CN200175" MONDO:0015679 "OMIM:273900" MONDO:0015679 "Orphanet:168629" MONDO:0012734 "GARD:0010302" MONDO:0012734 "NCIT:C123726" +MONDO:0012734 "ICD10CM:Q87.8" MONDO:0012734 "OMIM:611812" MONDO:0012734 "SCTID:723720008" MONDO:0012734 "UMLS:C2678492" -MONDO:0012734 "ICD10:Q87.8" MONDO:0012734 "MESH:C567517" MONDO:0012734 "Orphanet:139466" MONDO:0003718 "ICD9:433.81" @@ -50534,13 +49339,12 @@ MONDO:0003718 "DOID:5976" MONDO:0003718 "ICD9:433.9" MONDO:0003718 "ICD9:433.80" MONDO:0003718 "UMLS:C0265090" -MONDO:0003718 "ICD10:I65.9" MONDO:0003718 "SCTID:28790007" MONDO:0003718 "ICD9:433" MONDO:0003718 "ICD9:433.3" HP:0004921 "UMLS:C4025274" HP:0004921 "UMLS:C4020826" -MONDO:0015405 "ICD10:Q28.2" +MONDO:0015405 "ICD10CM:Q28.2" MONDO:0015405 "UMLS:C3839265" MONDO:0015405 "Orphanet:141189" MONDO:0015405 "SCTID:703266007" @@ -50549,7 +49353,7 @@ CL:0002584 "KUPO:0001016" MONDO:0017858 "SCTID:93451002" MONDO:0017858 "MESH:D004915" MONDO:0017858 "OMIM:133180" -MONDO:0017858 "ICD10:C94.0" +MONDO:0017858 "ICD10CM:C94.0" MONDO:0017858 "ICD9:205.80" MONDO:0017858 "UMLS:C0023440" MONDO:0017858 "ICDO:9840/3" @@ -50560,11 +49364,11 @@ MONDO:0017858 "Orphanet:318" MONDO:0017858 "GARD:0009750" MONDO:0030953 "OMIM:619184" MONDO:0010121 "MedDRA:10071719" +MONDO:0010121 "ICD10CM:Q87.2" MONDO:0010121 "ICD9:759.89" MONDO:0010121 "SCTID:85589009" MONDO:0010121 "Orphanet:3320" MONDO:0010121 "NCIT:C99038" -MONDO:0010121 "ICD10:Q87.2" MONDO:0010121 "UMLS:C0175703" MONDO:0010121 "DOID:14699" MONDO:0010121 "MESH:C536940" @@ -50572,13 +49376,13 @@ MONDO:0010121 "OMIM:274000" MONDO:0010121 "GARD:0005116" MONDO:0016283 "SCTID:763771009" MONDO:0016283 "ONCOTREE:CELI" -MONDO:0016283 "ICD10:C53.0" MONDO:0016283 "UMLS:CN201073" -MONDO:0016283 "ICD10:C53.1" +MONDO:0016283 "ICD10CM:C53.1" +MONDO:0016283 "ICD10CM:C53.0" MONDO:0016283 "Orphanet:213807" MONDO:0016283 "UMLS:C4289817" +MONDO:0016283 "ICD10CM:C53.8" MONDO:0016283 "NCIT:C128047" -MONDO:0016283 "ICD10:C53.8" MONDO:0004707 "ICD9:230.5" MONDO:0004707 "DOID:9087" MONDO:0004707 "SCTID:92531006" @@ -50587,32 +49391,28 @@ MONDO:0004707 "NCIT:C7794" MONDO:0004707 "ICD9:230.6" MONDO:0004707 "UMLS:C2242854" MONDO:0008397 "DOID:0111549" -MONDO:0008397 "ICD10:Q10.4" MONDO:0008397 "OMIM:180920" MONDO:0008397 "Orphanet:86815" MONDO:0008397 "SCTID:715656004" -MONDO:0008397 "ICD10:Q38.4" MONDO:0016189 "Orphanet:209047" MONDO:0021535 "NCIT:C95584" MONDO:0021535 "SCTID:254613007" MONDO:0018462 "UMLS:CN237442" MONDO:0018462 "Orphanet:411515" -MONDO:0018462 "ICD10:Q93.5" +MONDO:0018462 "ICD10CM:Q93.5" MONDO:0011746 "UMLS:C1847185" MONDO:0011746 "GARD:0008554" MONDO:0011746 "MESH:C538148" MONDO:0011746 "OMIM:606895" MONDO:0005279 "SCTID:59282003" -MONDO:0005279 "ICD10:I26.99" MONDO:0005279 "UMLS:C0034065" MONDO:0005279 "ICD9:415.19" MONDO:0005279 "NCIT:C50713" MONDO:0005279 "EFO:0003827" -MONDO:0005279 "ICD10:I26" +MONDO:0005279 "ICD10CM:I26-I28" MONDO:0005279 "MESH:D011655" MONDO:0005279 "HP:0002204" MONDO:0005279 "DOID:9477" -MONDO:0016846 "ICD10:Q92.3" MONDO:0016846 "SCTID:764524005" MONDO:0016846 "UMLS:CN202187" MONDO:0016846 "Orphanet:261337" @@ -50621,19 +49421,20 @@ MONDO:0014089 "UMLS:C3808876" MONDO:0014089 "Orphanet:352662" MONDO:0014089 "UMLS:CN204511" MONDO:0014089 "OMIM:615225" -MONDO:0014089 "ICD10:Q82.8" +MONDO:0014089 "OMIM:617388" +MONDO:0014089 "ICD10CM:Q82.8" MONDO:0011523 "OMIM:209900" MONDO:0011523 "MESH:C565738" MONDO:0011523 "GARD:0010205" MONDO:0011523 "DOID:0110128" MONDO:0011523 "OMIM:605231" -MONDO:0011523 "ICD10:Q87.89" MONDO:0011523 "UMLS:C1858054" MONDO:0011523 "Orphanet:110" MONDO:0032681 "OMIM:618331" +MONDO:0044881 "ICD10CM:C81-C96" MONDO:0044881 "NCIT:C27134" MONDO:0100347 "SCTID:35868009" -MONDO:0100347 "ICD10:E34.0" +MONDO:0100347 "ICD10CM:E34.0" MONDO:0100347 "MedDRA:10007270" MONDO:0100347 "ICD9:259.2" MONDO:0100347 "EFO:1000852" @@ -50643,29 +49444,29 @@ MONDO:0100347 "Orphanet:100093" MONDO:0010061 "MESH:C537309" MONDO:0010061 "Orphanet:95433" MONDO:0010061 "DOID:0111612" -MONDO:0010061 "ICD10:G11.1" MONDO:0010061 "GARD:0009971" MONDO:0010061 "OMIM:271250" +MONDO:0010061 "ICD10CM:G11.1" MONDO:0010061 "UMLS:C1849094" -MONDO:0001195 "ICD10:A77.1" -MONDO:0001195 "ICD10:A77.3" MONDO:0001195 "Orphanet:102022" MONDO:0001195 "ICD9:082.0" +MONDO:0001195 "ICD10CM:A77.8" MONDO:0001195 "GARD:0004998" MONDO:0001195 "UMLS:C0038041" -MONDO:0001195 "ICD10:A77.0" -MONDO:0001195 "ICD10:A77" +MONDO:0001195 "ICD10CM:A77.1" +MONDO:0001195 "ICD10CM:A77.3" +MONDO:0001195 "ICD10CM:A77.9" MONDO:0001195 "DOID:11104" -MONDO:0001195 "ICD10:A77.9" MONDO:0001195 "SCTID:186771002" MONDO:0001195 "ICD9:083.8" -MONDO:0001195 "ICD10:A77.2" +MONDO:0001195 "ICD10CM:A77" MONDO:0001195 "MEDGEN:11567" -MONDO:0001195 "ICD10:A77.8" +MONDO:0001195 "ICD10CM:A77.0" +MONDO:0001195 "ICD10CM:A77.2" MONDO:0012261 "OMIM:609378" MONDO:0012261 "UMLS:C1836271" MONDO:0000778 "DOID:0060503" -MONDO:0019730 "ICD10:D89.8" +MONDO:0019730 "ICD10CM:D89.8" MONDO:0019730 "GARD:0006906" MONDO:0019730 "NCIT:C7727" MONDO:0019730 "SCTID:373604002" @@ -50673,7 +49474,6 @@ MONDO:0019730 "Orphanet:93558" MONDO:0019730 "UMLS:C0238239" MONDO:0017450 "Orphanet:294994" MONDO:0017450 "SCTID:205358006" -MONDO:0017450 "ICD10:Q72.7" MONDO:0017450 "HP:0001839" MONDO:0008468 "UMLS:C1866738" MONDO:0008468 "DOID:0080604" @@ -50684,49 +49484,43 @@ MONDO:0019409 "OMIM:615221" MONDO:0019409 "OMIM:259750" MONDO:0019409 "GARD:0006760" MONDO:0019409 "SCTID:3345002" -MONDO:0019409 "ICD10:M81.5" MONDO:0019409 "MESH:C537700" MONDO:0019409 "Orphanet:85193" MONDO:0019409 "DOID:12559" MONDO:0019409 "NCIT:C119996" -MONDO:0004571 "ICD10:K56.4" -MONDO:0004571 "ICD10:K56.49" MONDO:0004571 "ICD9:560.30" MONDO:0004571 "DOID:8448" MONDO:0004571 "ICD9:560.39" MONDO:0004571 "SCTID:62851005" MONDO:0018533 "UMLS:CN242153" -MONDO:0018533 "ICD10:C22.1" -MONDO:0018533 "ICD10:C22.7" MONDO:0018533 "Orphanet:424970" -MONDO:0018533 "ICD10:C22.0" HP:0001369 "SNOMEDCT_US:3723001" HP:0001369 "MSH:D001168" HP:0001369 "UMLS:C0003864" MONDO:0015228 "GARD:0005678" -MONDO:0015228 "ICD10:Q97.1" MONDO:0015228 "UMLS:C0265497" MONDO:0015228 "Orphanet:11" MONDO:0015228 "NCIT:C89802" MONDO:0015228 "MESH:C535319" MONDO:0015228 "SCTID:43248007" +MONDO:0015228 "ICD10CM:Q97.1" MONDO:0003374 "NCIT:C6022" MONDO:0003374 "DOID:5288" MONDO:0003374 "UMLS:C1334371" -MONDO:0017428 "ICD10:Q68.1" +MONDO:0017428 "ICD10CM:Q68.1" MONDO:0017428 "Orphanet:294947" MONDO:0043988 "MESH:D031368" MONDO:0043988 "UMLS:C1135841" MONDO:0043988 "EFO:1001827" MONDO:0043988 "SCTID:449783002" MONDO:0032564 "OMIM:618154" +MONDO:0002269 "ICD10CM:K50-K52" MONDO:0002269 "NCIT:C34632" MONDO:0002269 "EFO:1001463" MONDO:0002269 "SCTID:25374005" MONDO:0002269 "DOID:2326" MONDO:0002269 "UMLS:C0017160" MONDO:0002269 "ICD9:558.9" -MONDO:0002269 "ICD10:K52.9" MONDO:0002269 "MESH:D005759" MONDO:0001499 "UMLS:C1335779" MONDO:0001499 "SCTID:422853008" @@ -50747,20 +49541,21 @@ NCBITaxon:138 "PMID:8863409" MONDO:0020180 "UMLS:CN207040" MONDO:0020180 "Orphanet:98590" MONDO:0001382 "NCIT:C113400" +MONDO:0001382 "ICD10CM:K76.7" MONDO:0001382 "GARD:0006610" MONDO:0001382 "UMLS:C0019212" -MONDO:0001382 "ICD10:K76.7" MONDO:0001382 "DOID:11823" MONDO:0001382 "MESH:D006530" MONDO:0001382 "ICD9:572.4" MONDO:0001382 "SCTID:51292008" -MONDO:0014507 "SCTID:722383001" MONDO:0014507 "GARD:0000028" +MONDO:0014507 "OMIM:302380" +MONDO:0014507 "MESH:C535347" +MONDO:0014507 "SCTID:722383001" MONDO:0014507 "OMIM:616145" MONDO:0014507 "Orphanet:1388" -MONDO:0014507 "ICD10:Q87.8" -MONDO:0014507 "MESH:C535347" MONDO:0014507 "UMLS:C1844887" +MONDO:0014507 "ICD10CM:Q87.8" MONDO:0003211 "NCIT:C6015" MONDO:0003211 "DOID:4930" MONDO:0003211 "UMLS:C1334920" @@ -50770,23 +49565,22 @@ MONDO:0016691 "GARD:0009808" MONDO:0016691 "Orphanet:251612" MONDO:0016691 "DOID:4851" MONDO:0016691 "ONCOTREE:PAST" +MONDO:0016691 "ICD10CM:C79.1" MONDO:0016691 "ICDO:9421/1" -MONDO:0016691 "ICD10:C79.1" MONDO:0016691 "NCIT:C4047" MONDO:0016691 "SCTID:763865009" -MONDO:0016691 "ICD10:C71.9" MONDO:0020047 "Orphanet:98099" MONDO:0020047 "UMLS:CN227742" -MONDO:0009072 "MedDRA:10048411" -MONDO:0009072 "DOID:2785" MONDO:0009072 "OMIM:220200" -MONDO:0009072 "Orphanet:217" -MONDO:0009072 "ICD10:Q03.1" +MONDO:0009072 "ICD10CM:Q03.1" +MONDO:0009072 "DOID:2785" +MONDO:0009072 "MedDRA:10048411" MONDO:0009072 "GARD:0006242" MONDO:0009072 "SCTID:14447001" -MONDO:0009072 "EFO:1000890" -MONDO:0009072 "NCIT:C75012" +MONDO:0009072 "Orphanet:217" MONDO:0009072 "MESH:D003616" +MONDO:0009072 "NCIT:C75012" +MONDO:0009072 "EFO:1000890" MONDO:0009072 "UMLS:C0010964" MONDO:0006728 "MESH:D015299" MONDO:0006728 "SCTID:2304001" @@ -50794,12 +49588,11 @@ MONDO:0006728 "EFO:1000900" MONDO:0006728 "DOID:10986" MONDO:0006728 "ICD9:722.90" MONDO:0006728 "UMLS:C0012624" -MONDO:0006728 "ICD10:M46.4" MONDO:0018891 "OMIM:211900" MONDO:0018891 "GARD:0010877" MONDO:0018891 "MedDRA:10059364" +MONDO:0018891 "ICD10CM:M11.2" MONDO:0018891 "OMIM:610455" -MONDO:0018891 "ICD10:M11.2" MONDO:0018891 "Orphanet:53715" MONDO:0008655 "UMLS:C2931176" MONDO:0008655 "OMIM:193005" @@ -50810,7 +49603,7 @@ MONDO:0014896 "UMLS:C4310736" MONDO:0014896 "Orphanet:486815" MONDO:0018720 "Orphanet:458833" MONDO:0016669 "GARD:0006584" -MONDO:0016669 "ICD10:D57.2" +MONDO:0016669 "ICD10CM:D57.2" MONDO:0016669 "UMLS:C0019034" MONDO:0016669 "Orphanet:251365" MONDO:0016669 "MedDRA:10057072" @@ -50832,14 +49625,13 @@ MONDO:0007332 "MESH:C536425" MONDO:0007332 "Orphanet:3329" MONDO:0015551 "UMLS:C4302031" MONDO:0015551 "SCTID:723163000" -MONDO:0015551 "ICD10:Q81.0" MONDO:0015551 "Orphanet:158665" +MONDO:0015551 "ICD10CM:Q81.0" MONDO:0006915 "DOID:4308" MONDO:0006915 "EFO:1001116" MONDO:0006915 "SCTID:128078004" MONDO:0006915 "UMLS:C0032587" MONDO:0006915 "MESH:D011129" -MONDO:0012326 "ICD10:H90.3" MONDO:0012326 "MESH:C566460" MONDO:0012326 "OMIM:609646" MONDO:0012326 "UMLS:C1864818" @@ -50851,6 +49643,7 @@ MONDO:0011111 "OMIM:601563" MONDO:0017273 "Orphanet:281241" MONDO:0017273 "UMLS:CN202794" MONDO:0015961 "Orphanet:183583" +MONDO:0015961 "ICD10CM:Q10-Q18" MONDO:0004699 "ICD9:202.80" MONDO:0004699 "DOID:903" MONDO:0004699 "UMLS:C0740372" @@ -50859,22 +49652,22 @@ MONDO:0004699 "SCTID:449072004" MONDO:0025028 "MESH:D054243" MONDO:0025028 "UMLS:C0266999" MONDO:0025028 "SCTID:36921006" -MONDO:0005645 "SCTID:63479002" +MONDO:0005645 "ICD10CM:B76.0" MONDO:0005645 "MedDRA:10002255" -MONDO:0005645 "GARD:0009742" -MONDO:0005645 "ICD10:B76.1" -MONDO:0005645 "EFO:0007145" +MONDO:0005645 "SCTID:63479002" +MONDO:0005645 "ICD10CM:B76.1" MONDO:0005645 "DOID:12841" -MONDO:0005645 "UMLS:C0002831" MONDO:0005645 "MESH:D000724" +MONDO:0005645 "GARD:0009742" +MONDO:0005645 "ICD10CM:B76.9" MONDO:0005645 "ICD9:126.9" -MONDO:0005645 "ICD10:B76.8" -MONDO:0005645 "MedDRA:10020376" -MONDO:0005645 "ICD10:B76.0" -MONDO:0005645 "NCIT:C35805" +MONDO:0005645 "UMLS:C0002831" +MONDO:0005645 "ICD10CM:B76.8" MONDO:0005645 "ICD9:126.8" +MONDO:0005645 "EFO:0007145" +MONDO:0005645 "NCIT:C35805" MONDO:0005645 "Orphanet:78" -MONDO:0005645 "ICD10:B76.9" +MONDO:0005645 "MedDRA:10020376" MONDO:0009387 "MESH:D008072" MONDO:0009387 "ICD9:272.3" MONDO:0009387 "Orphanet:309015" @@ -50882,8 +49675,8 @@ MONDO:0009387 "NCIT:C84771" MONDO:0009387 "SCTID:275598004" MONDO:0009387 "DOID:14118" MONDO:0009387 "OMIM:238600" -MONDO:0009387 "ICD10:E78.3" MONDO:0009387 "GARD:0012241" +MONDO:0009387 "ICD10CM:E78.3" MONDO:0002831 "UMLS:C0334270" MONDO:0002831 "ONCOTREE:SNSC" MONDO:0002831 "ICDO:8121/3" @@ -50896,7 +49689,6 @@ MONDO:0012736 "DOID:0110650" MONDO:0012736 "OMIM:611818" MONDO:0012736 "GARD:0010435" MONDO:0012736 "Orphanet:768" -MONDO:0012736 "ICD10:I45.8" MONDO:0012736 "MESH:C567515" MONDO:0004957 "MESH:D002288" MONDO:0004957 "EFO:0000197" @@ -50910,8 +49702,8 @@ MONDO:0044334 "NCIT:C3810" MONDO:0013767 "UMLS:C2674723" MONDO:0013767 "DOID:0110117" MONDO:0013767 "Orphanet:268114" +MONDO:0013767 "ICD10CM:D72.8" MONDO:0013767 "SCTID:723508002" -MONDO:0013767 "ICD10:D72.8" MONDO:0013767 "OMIM:614470" MONDO:0012513 "SCTID:609574004" MONDO:0012513 "DOID:0111106" @@ -50926,50 +49718,47 @@ MONDO:0004886 "SCTID:193463006" MONDO:0004886 "ICD9:363.42" MONDO:0004886 "UMLS:C0154892" MONDO:0004886 "DOID:981" -MONDO:0004886 "ICD10:H31.12" MONDO:0023246 "SCTID:238631008" MONDO:0023246 "UMLS:C0302319" MONDO:0002185 "SCTID:203514008" MONDO:0002185 "ICD9:733.99" MONDO:0002185 "MESH:D015576" -MONDO:0002185 "ICD10:M89.3" MONDO:0002185 "NCIT:C34712" MONDO:0002185 "DOID:205" MONDO:0002185 "UMLS:C0020492" -MONDO:0002185 "ICD10:M89.30" NCBITaxon:72273 "GC_ID:11" NCBITaxon:72273 "PMID:16280474" MONDO:0018136 "UMLS:CN204521" -MONDO:0018136 "ICD10:E70.3" MONDO:0018136 "SCTID:237919007" MONDO:0018136 "ICD9:270.2" MONDO:0018136 "Orphanet:352734" +MONDO:0018136 "ICD10CM:E70.3" MONDO:0008247 "MESH:C535688" MONDO:0008247 "UMLS:C1868309" -MONDO:0008247 "ICD10:Q87.0" MONDO:0008247 "Orphanet:3104" MONDO:0008247 "OMIM:172880" MONDO:0008247 "GARD:0004729" -MONDO:0018312 "ICD10:B39.4" +MONDO:0008247 "ICD10CM:Q87.0" MONDO:0018312 "DOID:1731" -MONDO:0018312 "ICD10:B39.1" -MONDO:0018312 "MedDRA:10021808" MONDO:0018312 "Orphanet:390" -MONDO:0018312 "ICD10:B39.2" +MONDO:0018312 "MedDRA:10021808" MONDO:0018312 "ICD9:115.99" -MONDO:0018312 "ICD10:B39.5" MONDO:0018312 "ICD9:115.90" -MONDO:0018312 "ICD10:B39" -MONDO:0018312 "ICD10:B39.3" -MONDO:0018312 "ICD10:B39.0" MONDO:0018312 "SCTID:12962009" +MONDO:0018312 "ICD10CM:B39.9" +MONDO:0018312 "ICD10CM:B39.5" MONDO:0018312 "MedDRA:10020141" +MONDO:0018312 "ICD10CM:B39.2" MONDO:0018312 "NCIT:C77201" MONDO:0018312 "ICD9:115" +MONDO:0018312 "ICD10CM:B39.0" MONDO:0018312 "EFO:0007310" -MONDO:0018312 "ICD10:B39.9" +MONDO:0018312 "ICD10CM:B39" +MONDO:0018312 "ICD10CM:B39.3" MONDO:0018312 "MESH:D006660" +MONDO:0018312 "ICD10CM:B39.4" MONDO:0018312 "UMLS:C0019655" +MONDO:0018312 "ICD10CM:B39.1" MONDO:0018312 "ICD9:115.9" MONDO:0005561 "SCTID:47040006" MONDO:0005561 "MESH:D001018" @@ -50981,23 +49770,24 @@ MONDO:0005561 "EFO:0005775" MONDO:0006203 "NCIT:C5777" MONDO:0006203 "EFO:1000248" MONDO:0006203 "UMLS:C0861861" +MONDO:0014371 "ICD10CM:G40.4" MONDO:0014371 "DOID:0080415" -MONDO:0014371 "ICD10:G40.4" MONDO:0014371 "UMLS:C4014492" MONDO:0014371 "Orphanet:411986" MONDO:0014371 "OMIM:615859" MONDO:0010731 "SCTID:439143004" MONDO:0010731 "OMIM:300209" +MONDO:0010731 "ICD10CM:Q87.3" MONDO:0010731 "MESH:C537340" -MONDO:0010731 "ICD10:Q87.3" MONDO:0010731 "ICD9:759.89" +MONDO:0010731 "OMIM:312870" MONDO:0010731 "NCIT:C131002" MONDO:0010731 "GARD:0007649" MONDO:0010731 "Orphanet:373" MONDO:0013954 "Orphanet:319558" MONDO:0013954 "UMLS:C4013948" +MONDO:0013954 "ICD10CM:D84.8" MONDO:0013954 "OMIM:614890" -MONDO:0013954 "ICD10:D84.8" MONDO:0021537 "NCIT:C8023" MONDO:0021537 "UMLS:C0279748" MONDO:0021537 "SCTID:422541001" @@ -51011,7 +49801,7 @@ MONDO:0012496 "UMLS:C1864871" MONDO:0012496 "UMLS:CN776874" MONDO:0012496 "DOID:0070076" MONDO:0012496 "GARD:0010727" -MONDO:0012496 "ICD10:Q93.5" +MONDO:0012496 "ICD10CM:Q93.5" MONDO:0012496 "SCTID:717338006" NCBITaxon:7197 "GC_ID:1" MONDO:0023129 "MESH:C537074" @@ -51020,15 +49810,14 @@ MONDO:0023129 "UMLS:C2931416" MONDO:0002068 "UMLS:C0153551" MONDO:0002068 "DOID:1649" MONDO:0002068 "ICD9:174.3" -MONDO:0002068 "ICD10:C50.31" MONDO:0002068 "SCTID:188153009" -MONDO:0002068 "ICD10:C50.3" +MONDO:0002068 "ICD10CM:C50.3" MONDO:0007690 "GARD:12949" MONDO:0007690 "GARD:0012494" MONDO:0007690 "UMLS:C1970109" +MONDO:0007690 "ICD10CM:E30.1" MONDO:0007690 "DOID:0090122" MONDO:0007690 "SCTID:709075008" -MONDO:0007690 "ICD10:E30.1" MONDO:0007690 "OMIM:139300" MONDO:0007690 "Orphanet:178345" MONDO:0007690 "MESH:C000591739" @@ -51040,17 +49829,16 @@ MONDO:0009649 "Orphanet:2573" MONDO:0003014 "SCTID:70076002" MONDO:0003014 "MESH:D012220" MONDO:0003014 "NCIT:C34986" -MONDO:0003014 "ICD10:J30" MONDO:0003014 "DOID:4483" MONDO:0003014 "EFO:0008521" MONDO:0003014 "UMLS:C0035455" +MONDO:0003014 "ICD10CM:J30" MONDO:0014499 "UMLS:C4015283" MONDO:0014499 "OMIM:616116" -MONDO:0016354 "ICD10:Q87.1" +MONDO:0016354 "ICD10CM:Q82.1" MONDO:0016354 "Orphanet:220295" MONDO:0016354 "OMIM:278760" MONDO:0016354 "UMLS:CN201205" -MONDO:0016354 "ICD10:Q82.1" MONDO:0016354 "OMIM:278730" MONDO:0016354 "OMIM:278780" MONDO:0016354 "OMIM:610651" @@ -51061,7 +49849,6 @@ MONDO:0015100 "SCTID:89112009" MONDO:0015100 "MedDRA:10054329" MONDO:0015100 "UMLS:C0553669" MONDO:0015100 "Orphanet:101096" -MONDO:0015100 "ICD10:D46.7" MONDO:0015100 "UMLS:C0002893" NCBITaxon:197912 "GC_ID:1" HP:0100022 "SNOMEDCT_US:60342002" @@ -51071,7 +49858,6 @@ CL:1000979 "KUPO:0001118" MONDO:0014675 "DOID:0110465" MONDO:0014675 "UMLS:C4225298" MONDO:0014675 "OMIM:616515" -MONDO:0014675 "ICD10:H90.3" MONDO:0011996 "DOID:8552" MONDO:0011996 "ICDO:9875/3" MONDO:0011996 "OMIM:608232" @@ -51079,7 +49865,6 @@ MONDO:0011996 "UMLS:C0023473" MONDO:0011996 "NCIT:C3177" MONDO:0011996 "EFO:0000339" MONDO:0011996 "ONCOTREE:CML" -MONDO:0011996 "ICD10:C92.1" MONDO:0011996 "KEGG:05220" MONDO:0011996 "NCIT:C3174" MONDO:0011996 "Orphanet:521" @@ -51108,18 +49893,17 @@ MONDO:0000943 "UMLS:C0339286" MONDO:0000943 "DOID:10125" MONDO:0016541 "Orphanet:238547" MONDO:0016541 "UMLS:C1318533" -MONDO:0016541 "ICD10:D75.1" +MONDO:0016541 "ICD10CM:D75.1" MONDO:0012105 "UMLS:C4050407" MONDO:0012105 "EFO:0005297" MONDO:0012105 "NCIT:C123111" MONDO:0012105 "Orphanet:900" MONDO:0012105 "OMIM:608710" MONDO:0012105 "SCTID:195353004" -MONDO:0012105 "ICD10:M31.3" +MONDO:0012105 "ICD10CM:M31.3" MONDO:0012105 "UMLS:C3495801" MONDO:0012105 "MedDRA:10047888" MONDO:0012105 "GARD:0007880" -MONDO:0012105 "ICD10:M31.30" MONDO:0012105 "MESH:D014890" MONDO:0012105 "ICD9:446.4" MONDO:0012105 "DOID:12132" @@ -51130,41 +49914,39 @@ MONDO:0013663 "UMLS:C3280315" MONDO:0015740 "Orphanet:1715" MONDO:0015740 "GARD:0005323" MONDO:0015740 "MESH:C538307" -MONDO:0015740 "ICD10:Q92.2" +MONDO:0015740 "ICD10CM:Q92.2" MONDO:0011419 "MESH:C537964" MONDO:0011419 "GARD:0008413" MONDO:0011419 "UMLS:C1858661" MONDO:0011419 "OMIM:604257" MONDO:0020790 "OMIM:607313" -MONDO:0006507 "ICD10:E83.119" MONDO:0006507 "DOID:2352" -MONDO:0006507 "ICD10:E83.110" MONDO:0006507 "OMIM:231100" MONDO:0006507 "NCIT:C84481" MONDO:0006507 "OMIMPS:235200" +MONDO:0006507 "ICD10CM:E83.110" MONDO:0006507 "EFO:1000642" MONDO:0006507 "MESH:D006432" -MONDO:0006507 "ICD10:E83.11" MONDO:0006507 "GARD:0010746" MONDO:0006507 "SCTID:35400008" MONDO:0100011 "SCTID:724152009" MONDO:0020212 "ICD9:371.52" -MONDO:0020212 "ICD10:H18.5" MONDO:0020212 "SCTID:430888006" +MONDO:0020212 "ICD10CM:H18.5" MONDO:0020212 "UMLS:C2315777" MONDO:0020212 "Orphanet:98625" MONDO:0013546 "OMIM:614052" MONDO:0013546 "GARD:0012965" MONDO:0013546 "Orphanet:1194" +MONDO:0013546 "ICD10CM:G71.3" MONDO:0013546 "SCTID:718212006" -MONDO:0013546 "ICD10:G71.3" MONDO:0013546 "MESH:C567528" MONDO:0013546 "DOID:0060331" -MONDO:0015094 "ICD10:Q04.8" MONDO:0015094 "MedDRA:10071150" MONDO:0015094 "UMLS:C3160906" MONDO:0015094 "Orphanet:101030" MONDO:0015094 "SCTID:699812002" +MONDO:0015094 "ICD10CM:Q04.8" MONDO:0015094 "ICD9:742.4" MONDO:0015094 "GARD:0005050" HP:0000522 "UMLS:C0344505" @@ -51173,7 +49955,7 @@ HP:0000522 "SNOMEDCT_US:253215004" MONDO:0017123 "OMIM:613404" MONDO:0017123 "OMIMPS:208085" MONDO:0017123 "OMIM:208085" -MONDO:0017123 "ICD10:Q89.7" +MONDO:0017123 "ICD10CM:Q89.7" MONDO:0017123 "SCTID:720513002" MONDO:0017123 "DOID:0050763" MONDO:0017123 "GARD:0000794" @@ -51183,18 +49965,16 @@ MONDO:0006917 "EFO:1001118" MONDO:0006917 "DOID:3821" MONDO:0006917 "UMLS:C0752132" MONDO:0006917 "MESH:D020762" -MONDO:0015811 "ICD10:C84.4" MONDO:0015811 "Orphanet:178528" +MONDO:0015811 "ICD10CM:C84.4" MONDO:0015811 "SCTID:765136002" MONDO:0001032 "Orphanet:519408" MONDO:0001032 "SCTID:22440001" MONDO:0001032 "DOID:10439" -MONDO:0001032 "ICD10:H16.05" MONDO:0001032 "ICD9:370.07" MONDO:0001032 "UMLS:C0155072" MONDO:0004549 "ICD9:495.3" MONDO:0004549 "SCTID:13394002" -MONDO:0004549 "ICD10:J67.3" MONDO:0004549 "UMLS:C0152108" MONDO:0004549 "DOID:840" MONDO:0000652 "DOID:0060121" @@ -51210,9 +49990,9 @@ NCBITaxon:5506 "GC_ID:1" NCBITaxon:5506 "PMID:23379853" NCBITaxon:5506 "PMID:30728601" NCBITaxon:5506 "PMID:33200960" +MONDO:0020518 "ICD10CM:C96.5" MONDO:0020518 "MESH:C535843" MONDO:0020518 "ICD9:277.89" -MONDO:0020518 "ICD10:C96.5" MONDO:0020518 "Orphanet:99872" MONDO:0020518 "UMLS:C1275336" MONDO:0020518 "GARD:0002604" @@ -51222,11 +50002,11 @@ MONDO:0011588 "UMLS:C2751535" MONDO:0011588 "DOID:0111058" MONDO:0011588 "MESH:C567786" MONDO:0010334 "MESH:C564508" +MONDO:0010334 "ICD10CM:Q87.8" MONDO:0010334 "OMIM:300475" MONDO:0010334 "UMLS:CN204816" MONDO:0010334 "Orphanet:369939" MONDO:0010334 "Orphanet:369942" -MONDO:0010334 "ICD10:Q87.8" MONDO:0014150 "GARD:0013197" MONDO:0014150 "Orphanet:1942" MONDO:0014150 "OMIM:615369" @@ -51244,11 +50024,11 @@ MONDO:0004959 "NCIT:C4665" MONDO:0004959 "MESH:D054219" MONDO:0004959 "UMLS:C1959632" MONDO:0004959 "SCTID:415111003" +MONDO:0013486 "ICD10CM:G11.8" MONDO:0013486 "UMLS:C4304844" MONDO:0013486 "SCTID:719254001" MONDO:0013486 "UMLS:C3151343" MONDO:0013486 "Orphanet:276183" -MONDO:0013486 "ICD10:G11.8" MONDO:0013486 "OMIM:613909" MONDO:0014128 "OMIM:615314" MONDO:0014128 "UMLS:C3715051" @@ -51269,7 +50049,6 @@ MONDO:0007122 "SCTID:13045009" MONDO:0007122 "HP:0009916" MONDO:0004736 "GARD:0006770" MONDO:0004736 "DOID:9252" -MONDO:0004736 "ICD10:E72.9" MONDO:0004736 "ICD9:270" MONDO:0004736 "MESH:D000592" MONDO:0004736 "SCTID:42930003" @@ -51278,11 +50057,8 @@ MONDO:0005810 "MESH:D007244" MONDO:0005810 "DOID:8568" MONDO:0005810 "SCTID:186668002" MONDO:0005810 "EFO:0007326" -MONDO:0005810 "ICD10:B27.9" -MONDO:0005810 "ICD10:B27" MONDO:0005810 "UMLS:C0021345" MONDO:0005810 "ICD9:075" -MONDO:0005810 "ICD10:B27.0" MONDO:0005810 "NCIT:C34726" MONDO:0007996 "UMLS:C1834918" MONDO:0007996 "OMIM:156900" @@ -51302,13 +50078,13 @@ MONDO:0019098 "SCTID:128091003" MONDO:0019098 "Orphanet:71203" MONDO:0019098 "MedDRA:10050245" MONDO:0019098 "UMLS:C0242584" -MONDO:0019098 "ICD10:D69.3" +MONDO:0019098 "ICD10CM:D69.3" MONDO:0013369 "UMLS:C1860752" MONDO:0013369 "DOID:0110313" MONDO:0013369 "OMIM:613690" -MONDO:0009760 "UMLS:C0796089" +MONDO:0009760 "ICD10CM:Q04.3" MONDO:0009760 "Orphanet:89844" -MONDO:0009760 "ICD10:Q04.3" +MONDO:0009760 "UMLS:C0796089" MONDO:0009760 "OMIM:257320" MONDO:0009760 "GARD:0003277" MONDO:0009760 "DOID:0060902" @@ -51317,17 +50093,15 @@ MONDO:0400006 "MPATH:859" MONDO:0006594 "DOID:9182" MONDO:0006594 "NCIT:C34909" MONDO:0006594 "Wikipedia:Pemphigus" -MONDO:0006594 "ICD10:L10.9" +MONDO:0006594 "ICD10CM:L10" MONDO:0006594 "ICD9:694.4" MONDO:0006594 "UMLS:C0030807" MONDO:0006594 "EFO:1000749" MONDO:0006594 "GARD:0007352" MONDO:0006594 "SCTID:65172003" -MONDO:0006594 "ICD10:L10" MONDO:0006594 "MESH:D010392" MONDO:0005340 "SCTID:68225006" MONDO:0005340 "DOID:986" -MONDO:0005340 "ICD10:L63.9" MONDO:0005340 "UMLS:C0002171" MONDO:0005340 "OMIM:104000" MONDO:0005340 "GARD:0005782" @@ -51335,8 +50109,8 @@ MONDO:0005340 "EFO:0004192" MONDO:0005340 "ICD9:704.01" MONDO:0005340 "MESH:D000506" MONDO:0005340 "OMIM:610753" -MONDO:0005340 "ICD10:L63" -MONDO:0017535 "ICD10:Q69.0" +MONDO:0005340 "ICD10CM:L63" +MONDO:0017535 "ICD10CM:Q69.0" MONDO:0017535 "Orphanet:295171" MONDO:0045057 "ICD9:293.0" MONDO:0045057 "MESH:D003693" @@ -51350,17 +50124,18 @@ MONDO:0020947 "MESH:D015822" MONDO:0009970 "OMIM:267430" MONDO:0009970 "Orphanet:3033" MONDO:0009970 "Orphanet:97369" -MONDO:0009970 "ICD10:Q63.8" +MONDO:0009970 "ICD10CM:Q63.8" MONDO:0025487 "MESH:D016183" MONDO:0021067 "UMLS:C1334655" MONDO:0021067 "NCIT:C6437" MONDO:0017984 "UMLS:CN204142" -MONDO:0017984 "ICD10:Q75.0" MONDO:0017984 "OMIM:600775" MONDO:0017984 "SCTID:766884000" MONDO:0017984 "Orphanet:3267" +MONDO:0017984 "ICD10CM:Q75.0" MONDO:0017984 "GARD:0003168" MONDO:0016730 "GARD:0010638" +MONDO:0016730 "ICD10CM:D36.1" MONDO:0016730 "SCTID:116371000119107" MONDO:0016730 "DOID:2426" MONDO:0016730 "Orphanet:251937" @@ -51370,14 +50145,13 @@ MONDO:0016730 "MESH:D005729" MONDO:0016730 "ICDO:9492/0" MONDO:0016730 "UMLS:C0017075" MONDO:0016730 "UMLS:CN201978" -MONDO:0016730 "ICD10:D36.1" MONDO:0001704 "UMLS:C1519921" MONDO:0001704 "NCIT:C40250" MONDO:0001704 "DOID:134" MONDO:0020393 "Orphanet:99052" -MONDO:0020393 "ICD10:Q24.4" -MONDO:0018930 "ICD10:Q93.0" +MONDO:0020393 "ICD10CM:Q24.4" MONDO:0018930 "Orphanet:574" +MONDO:0018930 "ICD10CM:Q93.0" MONDO:0018930 "NCIT:C36469" MONDO:0018930 "GARD:0010860" MONDO:0018930 "MESH:C537108" @@ -51414,9 +50188,7 @@ MONDO:0004328 "UMLS:C1334642" MONDO:0004328 "DOID:7684" MONDO:0004328 "SCTID:707339009" MONDO:0001642 "ICD9:373.11" -MONDO:0001642 "ICD10:H00.03" MONDO:0001642 "DOID:13134" -MONDO:0001642 "ICD10:H00.01" MONDO:0001642 "SCTID:1489008" MONDO:0001642 "UMLS:C0019919" MONDO:0004211 "NCIT:C27448" @@ -51427,16 +50199,16 @@ MONDO:0003771 "UMLS:C1334298" MONDO:0003771 "DOID:6110" MONDO:0003771 "NCIT:C5293" NCBITaxon:6656 "GC_ID:1" -MONDO:0010890 "ICD10:Q87.8" MONDO:0010890 "GARD:0001167" MONDO:0010890 "MESH:C563936" +MONDO:0010890 "ICD10CM:Q87.8" MONDO:0010890 "OMIM:600460" MONDO:0010890 "Orphanet:2008" MONDO:0010890 "UMLS:C1838121" +MONDO:0018338 "ICD10CM:D81.8" MONDO:0018338 "ICD9:279.8" MONDO:0018338 "UMLS:C3714976" MONDO:0018338 "OMIM:616005" -MONDO:0018338 "ICD10:D81.8" MONDO:0018338 "GARD:0011983" MONDO:0018338 "Orphanet:397596" MONDO:0018338 "OMIM:615513" @@ -51447,9 +50219,9 @@ MONDO:0001525 "UMLS:C0701822" MONDO:0001525 "SCTID:190303007" MONDO:0007428 "MESH:C565118" MONDO:0007428 "SCTID:716245003" -MONDO:0007428 "ICD10:Q87.0" MONDO:0007428 "Orphanet:3241" MONDO:0007428 "GARD:0001686" +MONDO:0007428 "ICD10CM:Q87.0" MONDO:0007428 "OMIM:125230" MONDO:0007428 "UMLS:C1852278" MONDO:0006800 "SCTID:229706001" @@ -51475,7 +50247,7 @@ MONDO:0019722 "SCTID:197679002" MONDO:0019722 "UMLS:CN580795" MONDO:0019722 "Orphanet:93548" MONDO:0019722 "NCIT:C120887" -MONDO:0019722 "ICD10:N00.N08" +MONDO:0019722 "ICD10CM:N00-N08" MONDO:0006197 "EFO:1000239" MONDO:0006197 "DOID:7139" MONDO:0006197 "NCIT:C40155" @@ -51483,13 +50255,12 @@ MONDO:0006197 "UMLS:C1516858" NCBITaxon:967 "PMID:19625415" NCBITaxon:967 "GC_ID:11" MONDO:0011062 "UMLS:C1832412" -MONDO:0011062 "ICD10:Q04.3" MONDO:0011062 "Orphanet:1126" MONDO:0011062 "MESH:C563331" MONDO:0011062 "OMIM:601374" +MONDO:0011062 "ICD10CM:Q04.3" MONDO:0006373 "ONCOTREE:PTAD" MONDO:0006373 "Orphanet:99408" -MONDO:0006373 "ICD10:D35.2" MONDO:0006373 "SCTID:254956000" MONDO:0006373 "MedDRA:10035079" MONDO:0006373 "ICDO:8272/0" @@ -51497,9 +50268,9 @@ MONDO:0006373 "NCIT:C3329" MONDO:0006373 "EFO:1000478" MONDO:0006373 "DOID:3829" MONDO:0006373 "UMLS:C0032000" +MONDO:0006373 "ICD10CM:D35.2" MONDO:0006026 "UMLS:C0005686" MONDO:0006026 "DOID:365" -MONDO:0006026 "ICD10:N32.9" MONDO:0006026 "MESH:D001745" MONDO:0006026 "NCIT:C2900" MONDO:0006026 "SCTID:42643001" @@ -51507,47 +50278,40 @@ MONDO:0006026 "ICD9:596.9" MONDO:0006026 "EFO:1000018" MONDO:0006026 "ICD9:596.8" NCBITaxon:6843 "GC_ID:1" -MONDO:0018525 "ICD10:C25.8" MONDO:0018525 "UMLS:C1336029" -MONDO:0018525 "ICD10:C25.1" MONDO:0018525 "ICDO:8452/3" -MONDO:0018525 "ICD10:C25.7" -MONDO:0018525 "ICD10:C25.0" MONDO:0018525 "Orphanet:424065" MONDO:0018525 "EFO:1000542" MONDO:0018525 "DOID:6827" MONDO:0018525 "NCIT:C5728" -MONDO:0018525 "ICD10:C25.2" MONDO:0000513 "DOID:0050895" +MONDO:0009402 "ICD10CM:Q87.8" MONDO:0009402 "SCTID:721835008" MONDO:0009402 "MESH:C538332" -MONDO:0009402 "ICD10:Q87.8" MONDO:0009402 "Orphanet:2211" MONDO:0009402 "GARD:0000287" MONDO:0009402 "OMIM:239710" MONDO:0013065 "OMIM:612964" MONDO:0013065 "UMLS:C2751825" MONDO:0013065 "MESH:C567838" -MONDO:0014011 "ICD10:Q80.2" MONDO:0014011 "DOID:0060719" MONDO:0014011 "OMIM:615024" MONDO:0014011 "UMLS:C3554355" MONDO:0014011 "Orphanet:79394" +MONDO:0017787 "ICD10CM:L21.1" MONDO:0017787 "GARD:0002191" MONDO:0017787 "HGNC:1331" MONDO:0017787 "UMLS:CN203737" MONDO:0017787 "Orphanet:314" -MONDO:0017787 "ICD10:L21.1" MONDO:0017787 "MESH:C535512" +MONDO:0018861 "ICD10CM:Q87.8" MONDO:0018861 "UMLS:C4305104" -MONDO:0018861 "ICD10:Q87.8" MONDO:0018861 "SCTID:718880003" MONDO:0018861 "Orphanet:50812" MONDO:0018861 "UMLS:CN205183" MONDO:0032768 "OMIM:618468" MONDO:0000819 "NCIT:C84560" MONDO:0000819 "OMIMPS:206500" -MONDO:0000819 "ICD10:00.0" MONDO:0000819 "Orphanet:1048" MONDO:0000819 "OMIM:206500" MONDO:0000819 "DOID:0060668" @@ -51557,7 +50321,6 @@ MONDO:0003570 "NCIT:C4152" MONDO:0003570 "DOID:5658" MONDO:0004901 "DOID:9854" MONDO:0004901 "UMLS:C0152115" -MONDO:0004901 "ICD10:G24.4" MONDO:0004901 "SCTID:49386006" MONDO:0004901 "ICD9:333.82" MONDO:0004901 "MESH:D009069" @@ -51578,7 +50341,7 @@ MONDO:0010178 "NCIT:C129303" MONDO:0020243 "Orphanet:98665" MONDO:0010007 "GARD:0003596" MONDO:0010007 "Orphanet:2511" -MONDO:0010007 "ICD10:Q87.8" +MONDO:0010007 "ICD10CM:Q87.8" MONDO:0010007 "OMIM:268850" MONDO:0010007 "UMLS:C0796142" MONDO:0005318 "HP:0032154" @@ -51589,13 +50352,13 @@ MONDO:0005318 "EFO:0003938" MONDO:0005318 "DOID:9663" MONDO:0029132 "OMIM:618126" MONDO:0008071 "OMIM:161900" -MONDO:0008071 "ICD10:I15.1" MONDO:0008071 "MESH:C562889" MONDO:0008071 "SCTID:703310005" MONDO:0008071 "UMLS:C0403443" MONDO:0008071 "UMLS:C3839782" MONDO:0008071 "Orphanet:88659" MONDO:0008071 "ICD9:583.9" +MONDO:0008071 "ICD10CM:I15.1" CL:1000277 "FMA:15062" MONDO:0019052 "Orphanet:68367" MONDO:0019052 "MESH:D008659" @@ -51611,12 +50374,11 @@ MONDO:0005654 "UMLS:C0003950" MONDO:0005654 "NCIT:C128392" MONDO:0005654 "ICD9:127.0" MONDO:0005654 "DOID:456" -MONDO:0005654 "ICD10:B77" MONDO:0005654 "CSP:1248-7284" MONDO:0005654 "EFO:0007154" -MONDO:0005654 "ICD10:B77.9" MONDO:0005654 "SCTID:2435008" MONDO:0005654 "MESH:D001196" +MONDO:0005654 "ICD10CM:B77" MONDO:0004400 "NCIT:C7999" MONDO:0004400 "DOID:7927" MONDO:0004400 "UMLS:C0279707" @@ -51626,11 +50388,11 @@ MONDO:0009396 "UMLS:C1855924" MONDO:0009396 "MESH:C565496" MONDO:0009396 "OMIM:239199" MONDO:0001234 "UMLS:C0155478" -MONDO:0001234 "ICD10:H74.1" MONDO:0001234 "ICD9:385.1" MONDO:0001234 "ICD9:385.10" MONDO:0001234 "SCTID:7699004" MONDO:0001234 "DOID:11235" +MONDO:0001234 "ICD10CM:H74.1" MONDO:0021232 "NCIT:C3328" MONDO:0021232 "ONCOTREE:PINT" MONDO:0012522 "SCTID:609581006" @@ -51647,13 +50409,11 @@ MONDO:0005184 "MESH:D021441" MONDO:0005184 "UMLS:C1335302" MONDO:0005184 "UMLS:C0887833" MONDO:0005184 "ICD9:157.3" -MONDO:0005184 "ICD10:C25.3" MONDO:0005184 "DOID:3587" MONDO:0004895 "DOID:9839" MONDO:0004895 "SCTID:419494007" MONDO:0004895 "ICD9:378.35" MONDO:0004895 "UMLS:C0155336" -MONDO:0004895 "ICD10:H50.43" MONDO:0005841 "DOID:4618" MONDO:0005841 "UMLS:C0024954" MONDO:0005841 "MESH:D008441" @@ -51661,25 +50421,25 @@ MONDO:0005841 "SCTID:126550004" MONDO:0005841 "EFO:0007360" MONDO:0014701 "Orphanet:459051" MONDO:0014701 "UMLS:C4225273" -MONDO:0014701 "ICD10:Q77.7" MONDO:0014701 "OMIM:616583" +MONDO:0014701 "ICD10CM:Q77.7" MONDO:0002675 "DOID:3512" MONDO:0002675 "MESH:D018319" MONDO:0002675 "GARD:0008211" MONDO:0001421 "NCIT:C5572" MONDO:0001421 "SCTID:126954003" MONDO:0001421 "DOID:12016" -MONDO:0001421 "ICD10:C71.1" MONDO:0001421 "UMLS:C1263886" MONDO:0001421 "ICD9:191.1" MONDO:0022673 "MESH:C538284" MONDO:0022673 "GARD:0001144" +MONDO:0022673 "OMIM:601286" MONDO:0013808 "Orphanet:163634" +MONDO:0013808 "ICD10CM:Q78.4" MONDO:0013808 "DOID:0060221" MONDO:0013808 "OMIM:614569" MONDO:0013808 "GARD:0006958" MONDO:0013808 "UMLS:C0024454" -MONDO:0013808 "ICD10:Q78.4" MONDO:0013808 "OMIM:166000" MONDO:0013808 "NCIT:C3213" MONDO:0013808 "SCTID:46041001" @@ -51691,9 +50451,9 @@ MONDO:0001527 "ICD9:378.81" MONDO:0001527 "UMLS:C0702143" MONDO:0001527 "DOID:12445" MONDO:0017219 "OMIM:147250" +MONDO:0017219 "ICD10CM:Q04.2" MONDO:0017219 "DOID:0111380" MONDO:0017219 "UMLS:CN202701" -MONDO:0017219 "ICD10:Q04.2" MONDO:0017219 "UMLS:CN236719" MONDO:0017219 "OMIM:609637" MONDO:0017219 "OMIM:157170" @@ -51711,8 +50471,8 @@ MONDO:0013254 "OMIM:613402" MONDO:0013254 "GARD:0010933" MONDO:0014200 "OMIM:615474" MONDO:0014200 "UMLS:C3809609" +MONDO:0014200 "ICD10CM:E26.0" MONDO:0014200 "Orphanet:369929" -MONDO:0014200 "ICD10:E26.0" MONDO:0013430 "OMIM:613803" MONDO:0013430 "Orphanet:2554" MONDO:0013430 "UMLS:C3151113" @@ -51725,7 +50485,6 @@ HP:0001339 "UMLS:C1879312" HP:0001339 "UMLS:C0266463" HP:0001339 "MSH:D054082" MONDO:0002929 "SCTID:42908004" -MONDO:0002929 "ICD10:P28.0" MONDO:0002929 "DOID:424" MONDO:0002929 "ICD9:770.4" MONDO:0000515 "DOID:0050897" @@ -51734,22 +50493,22 @@ MONDO:0003290 "DOID:5129" MONDO:0005249 "ICD9:486" MONDO:0005249 "NCIT:C3333" MONDO:0005249 "ICD9:483" -MONDO:0005249 "ICD10:J15" MONDO:0005249 "EFO:0003106" MONDO:0005249 "DOID:552" +MONDO:0005249 "ICD10CM:J09-J18" MONDO:0005249 "UMLS:C0032285" -MONDO:0005249 "ICD10:J18.9" MONDO:0005249 "MESH:D011014" MONDO:0005249 "ICD9:483.8" MONDO:0005249 "SCTID:233604007" MONDO:0005249 "ICD9:484.8" +MONDO:0005249 "ICD10CM:J18.9" MONDO:0011472 "MESH:C536183" MONDO:0011472 "GARD:0009705" +MONDO:0011472 "ICD10CM:Q81.0" MONDO:0011472 "Orphanet:158668" MONDO:0011472 "OMIM:604536" MONDO:0011472 "UMLS:C1858302" MONDO:0011472 "SCTID:716699004" -MONDO:0011472 "ICD10:Q81.0" MONDO:0014695 "Orphanet:251630" MONDO:0014695 "Orphanet:251627" MONDO:0014695 "OMIM:616568" @@ -51771,41 +50530,40 @@ MONDO:0009199 "ICD9:270.8" MONDO:0009199 "MESH:C562651" MONDO:0021011 "Orphanet:1429" MONDO:0021011 "OMIM:118700" +MONDO:0012301 "ICD10CM:G71.3" MONDO:0012301 "DOID:0080120" MONDO:0012301 "UMLS:C3501891" MONDO:0012301 "OMIM:609560" MONDO:0012301 "ICD9:359.89" MONDO:0012301 "MESH:C563698" MONDO:0012301 "SCTID:703527003" -MONDO:0012301 "ICD10:G71.3" MONDO:0012301 "Orphanet:254875" MONDO:0007636 "GARD:0012642" +MONDO:0007636 "ICD10CM:Q75.8" MONDO:0007636 "Orphanet:391474" -MONDO:0007636 "ICD10:Q75.8" MONDO:0007636 "OMIM:136760" MONDO:0007636 "UMLS:C1876203" MONDO:0007636 "NCIT:C129028" MONDO:0100370 "NCIT:C157781" -MONDO:0015237 "ICD10:Q30.1" MONDO:0015237 "MESH:C537438" MONDO:0015237 "GARD:0000364" MONDO:0015237 "Orphanet:1134" MONDO:0015237 "SCTID:111317000" MONDO:0015237 "ICD9:748.1" +MONDO:0015237 "ICD10CM:Q30.1" MONDO:0018369 "NCIT:C8111" MONDO:0018369 "Orphanet:398987" MONDO:0018369 "ONCOTREE:OIMT" +MONDO:0018369 "ICD10CM:C56" MONDO:0018369 "SCTID:254871000" MONDO:0018369 "DOID:6331" MONDO:0018369 "UMLS:C0346182" MONDO:0018369 "UMLS:CN205036" -MONDO:0018369 "ICD10:C56" MONDO:0000078 "SCTID:205260006" MONDO:0000078 "UMLS:C0687154" MONDO:0009207 "OMIM:227310" MONDO:0009207 "UMLS:C1856882" MONDO:0009207 "Orphanet:35909" -MONDO:0013926 "ICD10:E23.0" MONDO:0013926 "OMIM:614858" MONDO:0013926 "DOID:0090087" MONDO:0013926 "UMLS:C3540450" @@ -51813,8 +50571,8 @@ MONDO:0015803 "UMLS:C1306794" MONDO:0015803 "SCTID:398530003" MONDO:0015803 "ICD9:040.42" MONDO:0015803 "Orphanet:178475" -MONDO:0015803 "ICD10:A48.52" -MONDO:0015803 "ICD10:A05.1" +MONDO:0015803 "ICD10CM:A05.1" +MONDO:0015803 "ICD10CM:A48.52" MONDO:0015803 "DOID:0050353" MONDO:0015803 "NCIT:C128342" MONDO:0002278 "ICD9:211.3" @@ -51827,10 +50585,10 @@ MONDO:0002278 "MESH:D003110" MONDO:0002278 "NCIT:C2953" MONDO:0001024 "ICD9:020.4" MONDO:0001024 "UMLS:C0524688" +MONDO:0001024 "ICD10CM:A20.2" MONDO:0001024 "ICD9:020.3" MONDO:0001024 "MESH:D010930" MONDO:0001024 "SCTID:35339003" -MONDO:0001024 "ICD10:A20.2" MONDO:0001024 "ICD9:020.5" MONDO:0001024 "DOID:10398" MONDO:0002107 "ICD9:386.51" @@ -51839,12 +50597,12 @@ MONDO:0002107 "UMLS:C0155515" MONDO:0001391 "UMLS:C0021192" MONDO:0001391 "SCTID:14386001" MONDO:0001391 "ICD9:030.2" +MONDO:0001391 "ICD10CM:A30.0" MONDO:0001391 "DOID:11851" -MONDO:0001391 "ICD10:A30.0" MONDO:0010343 "OMIM:300497" MONDO:0017808 "Orphanet:314621" MONDO:0017808 "UMLS:CN203774" -MONDO:0017808 "ICD10:Q89.2" +MONDO:0017808 "ICD10CM:Q89.2" NCBITaxon:121752 "GC_ID:1" MONDO:0044304 "Orphanet:508523" MONDO:0044304 "OMIM:617384" @@ -51867,12 +50625,12 @@ CL:0000150 "FMA:86494" HP:0011804 "UMLS:C4023182" MONDO:0018684 "UMLS:CN205105" MONDO:0018684 "Orphanet:45452" -MONDO:0018684 "ICD10:P29.1" +MONDO:0018684 "ICD10CM:P29.1" MONDO:0018684 "SCTID:715560009" MONDO:0009565 "UMLS:C1855348" MONDO:0009565 "MESH:C565411" MONDO:0009565 "Orphanet:2172" -MONDO:0009565 "ICD10:Q87.8" +MONDO:0009565 "ICD10CM:Q87.8" MONDO:0009565 "GARD:0003615" MONDO:0009565 "OMIM:248760" MONDO:0007131 "MESH:C566278" @@ -51910,25 +50668,25 @@ MONDO:0008163 "OMIM:615560" MONDO:0008163 "OMIM:166780" MONDO:0008163 "UMLS:C1833691" MONDO:0008163 "OMIMPS:166780" -MONDO:0008163 "ICD10:Q87.0" -MONDO:0017282 "Orphanet:284" -MONDO:0017282 "GARD:0000207" +MONDO:0008163 "ICD10CM:Q87.0" MONDO:0017282 "UMLS:C0152069" -MONDO:0017282 "ICD10:B67.7" +MONDO:0017282 "MedDRA:10053042" +MONDO:0017282 "SCTID:21009004" MONDO:0017282 "UMLS:C0948954" +MONDO:0017282 "GARD:0000207" MONDO:0017282 "DOID:12148" -MONDO:0017282 "ICD10:B67.5" -MONDO:0017282 "ICD9:122.7" -MONDO:0017282 "ICD10:B67.6" -MONDO:0017282 "SCTID:21009004" -MONDO:0017282 "MedDRA:10053042" +MONDO:0017282 "ICD10CM:B67.5" +MONDO:0017282 "ICD10CM:B67.7" +MONDO:0017282 "Orphanet:284" MONDO:0017282 "MESH:C536591" +MONDO:0017282 "ICD10CM:B67.6" +MONDO:0017282 "ICD9:122.7" MONDO:0001898 "ICD9:363.9" MONDO:0001898 "DOID:1417" -MONDO:0001898 "ICD10:H31.9" MONDO:0001898 "UMLS:C0008521" MONDO:0001898 "NCIT:C34468" MONDO:0001898 "MESH:D015862" +MONDO:0001898 "ICD10CM:H30-H36" MONDO:0001898 "SCTID:128468007" MONDO:0001898 "ICD9:363.8" MONDO:0021896 "GARD:0009653" @@ -51936,7 +50694,6 @@ MONDO:0021896 "MESH:C537776" MONDO:0021896 "UMLS:C2931608" MONDO:0000683 "SCTID:83824009" MONDO:0000683 "DOID:0060153" -MONDO:0014498 "ICD10:L50.2" MONDO:0014498 "OMIM:616115" MONDO:0014498 "Orphanet:576349" MONDO:0014498 "UMLS:C4015276" @@ -51948,20 +50705,18 @@ MONDO:0006586 "DOID:9165" MONDO:0006586 "EFO:1000741" MONDO:0006586 "ICD9:300.19" MONDO:0006586 "SCTID:402736003" -MONDO:0006586 "ICD10:L98.1" MONDO:0006586 "ICD9:698.4" MONDO:0013104 "UMLS:C2751602" MONDO:0013104 "OMIM:613061" MONDO:0000704 "EFO:1001294" MONDO:0000704 "SCTID:31437008" MONDO:0000704 "MedDRA:10025268" -MONDO:0000704 "ICD10:K52.832" MONDO:0000704 "NCIT:C27147" MONDO:0000704 "GARD:0006939" MONDO:0000704 "Orphanet:65279" MONDO:0000704 "UMLS:C0400822" +MONDO:0000704 "ICD10CM:K52.832" MONDO:0000704 "DOID:0060184" -MONDO:0000704 "ICD10:K52.89" MONDO:0000704 "MESH:D046730" MONDO:0000704 "ICD9:558.9" MONDO:0042490 "MESH:C565969" @@ -51969,18 +50724,19 @@ MONDO:0042490 "OMIM:202700" MONDO:0042490 "UMLS:C1859966" MONDO:0042490 "Orphanet:486" MONDO:0042490 "DOID:0080625" -MONDO:0015909 "ICD10:D61.0" +MONDO:0015909 "ICD10CM:D60-D64" MONDO:0015909 "ICD9:284.8" MONDO:0015909 "NCIT:C2870" -MONDO:0015909 "ICD10:D61.3" -MONDO:0015909 "ICD10:D61.8" MONDO:0015909 "Orphanet:182040" +MONDO:0015909 "ICD10CM:D61.2" +MONDO:0015909 "ICD10CM:D61.8" +MONDO:0015909 "ICD10CM:D61.0" MONDO:0015909 "ICD9:284.9" -MONDO:0015909 "ICD10:D61.1" MONDO:0015909 "MESH:D000741" -MONDO:0015909 "ICD10:D61.9" MONDO:0015909 "DOID:12449" -MONDO:0015909 "ICD10:D61.2" +MONDO:0015909 "ICD10CM:D61.3" +MONDO:0015909 "ICD10CM:D61.9" +MONDO:0015909 "ICD10CM:D61.1" MONDO:0015909 "SCTID:306058006" MONDO:0007638 "OMIM:136830" MONDO:0022022 "SCTID:402913004" @@ -51992,28 +50748,26 @@ MONDO:0011816 "GARD:0009711" MONDO:0011816 "MESH:C537880" MONDO:0011816 "UMLS:C1846421" MONDO:0011816 "SCTID:719257008" +MONDO:0011816 "ICD10CM:Q87.8" MONDO:0011816 "Orphanet:46059" -MONDO:0011816 "ICD10:Q87.8" MONDO:0011816 "OMIM:607330" -MONDO:0019599 "ICD10:E88.1" MONDO:0019599 "Orphanet:90970" +MONDO:0019599 "ICD10CM:E88.1" CL:0000525 "FMA:83043" MONDO:0008877 "SCTID:59531002" MONDO:0008877 "OMIM:211000" MONDO:0008877 "MESH:C536239" -MONDO:0008877 "ICD10:E70.8" MONDO:0008877 "GARD:0005939" +MONDO:0008877 "ICD10CM:E70.8" MONDO:0008877 "UMLS:C0268478" MONDO:0008877 "Orphanet:94086" MONDO:0014506 "Orphanet:438114" MONDO:0014506 "OMIM:616140" MONDO:0014506 "UMLS:C4015323" -MONDO:0014506 "ICD10:E75.2" +MONDO:0014506 "ICD10CM:E75.2" MONDO:0014506 "DOID:0060791" MONDO:0006879 "SCTID:73221001" MONDO:0006879 "SCTID:6141006" -MONDO:0006879 "ICD10:H47.10" -MONDO:0006879 "ICD10:H46.0" MONDO:0006879 "EFO:1001074" MONDO:0006879 "ICD9:377.31" MONDO:0006879 "MedDRA:10030948" @@ -52022,11 +50776,8 @@ MONDO:0006879 "DOID:10175" MONDO:0006879 "ICD9:377.01" MONDO:0006879 "MESH:D010211" MONDO:0006879 "NCIT:C3307" -MONDO:0006879 "ICD10:H35.81" MONDO:0006879 "ICD9:362.83" -MONDO:0006879 "ICD10:H47.11" MONDO:0006879 "ICD9:377.0" -MONDO:0006879 "ICD10:H47.1" MONDO:0006081 "DOID:14145" MONDO:0006081 "SCTID:276821000" MONDO:0006081 "UMLS:C0349538" @@ -52044,12 +50795,12 @@ MONDO:0015618 "Orphanet:165661" MONDO:0004708 "SCTID:92585006" MONDO:0004708 "UMLS:C0154059" MONDO:0004708 "NCIT:C89771" -MONDO:0004708 "ICD10:D00.1" +MONDO:0004708 "ICD10CM:D00.1" MONDO:0004708 "ICD9:230.1" MONDO:0004708 "DOID:9095" MONDO:0016418 "Orphanet:227510" MONDO:0016418 "UMLS:CN201371" -MONDO:0016418 "ICD10:G90.3" +MONDO:0016418 "ICD10CM:G90.3" MONDO:0001580 "ICD9:190.7" MONDO:0001580 "SCTID:188274004" MONDO:0001580 "NCIT:C3567" @@ -52067,7 +50818,7 @@ MONDO:0012692 "UMLS:C1969055" MONDO:0012692 "MESH:C566918" MONDO:0012735 "Orphanet:420561" MONDO:0012735 "EFO:0009062" -MONDO:0012735 "ICD10:Q87.2" +MONDO:0012735 "ICD10CM:Q87.2" MONDO:0012735 "OMIM:611816" MONDO:0012735 "UMLS:C2678486" MONDO:0012735 "GARD:0009441" @@ -52077,16 +50828,16 @@ MONDO:0003719 "ICD9:239.5" MONDO:0003719 "SCTID:126881002" MONDO:0003719 "UMLS:C0346260" MONDO:0003719 "NCIT:C8404" -MONDO:0015805 "ICD10:A05.1" MONDO:0015805 "UMLS:C1443901" +MONDO:0015805 "ICD10CM:A05.1" MONDO:0015805 "DOID:0050141" MONDO:0015805 "SCTID:409563004" MONDO:0015805 "Orphanet:178481" MONDO:0015406 "UMLS:C3840102" MONDO:0015406 "SCTID:703267003" +MONDO:0015406 "ICD10CM:Q28.2" MONDO:0015406 "UMLS:CN199501" MONDO:0015406 "Orphanet:141194" -MONDO:0015406 "ICD10:Q28.2" MONDO:0019148 "UMLS:CN438428" MONDO:0019148 "SCTID:238074007" MONDO:0019148 "MESH:D015223" @@ -52095,20 +50846,20 @@ MONDO:0019148 "Orphanet:75233" MONDO:0019148 "OMIM:278000" MONDO:0019148 "SCTID:82500001" MONDO:0019148 "GARD:0007899" -MONDO:0019148 "ICD10:E75.5" MONDO:0019148 "DOID:14497" MONDO:0019148 "UMLS:C0043208" MONDO:0019148 "MedDRA:10053687" -MONDO:0017061 "ICD10:Q00.2" +MONDO:0019148 "ICD10CM:E75.5" MONDO:0017061 "SCTID:203927003" MONDO:0017061 "Orphanet:268366" +MONDO:0017061 "ICD10CM:Q00.2" NCBITaxon:40674 "GC_ID:1" MONDO:0008469 "MESH:C535783" MONDO:0008469 "GARD:0010101" MONDO:0008469 "OMIM:183849" MONDO:0008469 "Orphanet:168443" +MONDO:0008469 "ICD10CM:Q77.7" MONDO:0008469 "UMLS:C1866728" -MONDO:0008469 "ICD10:Q77.7" CL:0000000 "CALOHA:TS-2035" CL:0000000 "XAO:0003012" CL:0000000 "VHOG:0001533" @@ -52125,14 +50876,12 @@ MONDO:0044306 "OMIM:617393" MONDO:0044306 "UMLS:C4479333" MONDO:0044306 "Orphanet:500545" MONDO:0018534 "Orphanet:424975" -MONDO:0018534 "ICD10:C22.0" MONDO:0018534 "UMLS:CN242131" -MONDO:0018534 "ICD10:C22.1" MONDO:0010122 "OMIM:274150" +MONDO:0010122 "ICD10CM:M31.3" MONDO:0010122 "SCTID:373420004" MONDO:0010122 "NCIT:C131657" MONDO:0010122 "Orphanet:93583" -MONDO:0010122 "ICD10:M31.3" MONDO:0010122 "GARD:0009430" MONDO:0010122 "Orphanet:54057" MONDO:0010122 "ICD9:287.33" @@ -52140,7 +50889,6 @@ MONDO:0011680 "Orphanet:313" MONDO:0011680 "Orphanet:281122" MONDO:0011680 "Orphanet:79394" MONDO:0011680 "OMIM:606545" -MONDO:0011680 "ICD10:Q80.2" MONDO:0011680 "DOID:0060711" MONDO:0011680 "MESH:C564699" MONDO:0000115 "MESH:D001139" @@ -52151,14 +50899,14 @@ MONDO:0006018 "UMLS:C0043195" MONDO:0006018 "DOID:3047" MONDO:0006018 "MESH:D014924" MONDO:0019660 "Orphanet:93259" -MONDO:0019660 "ICD10:Q87.0" +MONDO:0019660 "ICD10CM:Q87.0" MONDO:0019660 "UMLS:CN206534" MONDO:0008398 "UMLS:C1867056" MONDO:0008398 "OMIM:180950" MONDO:0011747 "OMIM:606896" +MONDO:0016847 "ICD10CM:Q92.2" MONDO:0016847 "Orphanet:261344" MONDO:0016847 "SCTID:768927001" -MONDO:0016847 "ICD10:Q92.2" MONDO:0009073 "Orphanet:7" MONDO:0009073 "UMLS:C0796137" MONDO:0009073 "DOID:0060571" @@ -52172,22 +50920,21 @@ MONDO:0007459 "UMLS:C1876214" MONDO:0007459 "SCTID:23006000" MONDO:0007459 "GARD:0006731" MONDO:0100348 "OMIM:619091" -MONDO:0017451 "ICD10:Q71.8" MONDO:0017451 "Orphanet:294996" +MONDO:0017451 "ICD10CM:Q71.8" PO:0009001 "PO_GIT:76" MONDO:0004572 "DOID:845" +MONDO:0004572 "ICD10CM:F34.0" MONDO:0004572 "ICD9:301.10" MONDO:0004572 "SCTID:76105009" MONDO:0004572 "ICD9:301.13" MONDO:0004572 "ICD9:301.1" -MONDO:0004572 "ICD10:F34.0" MONDO:0004572 "MESH:D003527" +MONDO:0015290 "ICD10CM:H16.2" MONDO:0015290 "Orphanet:137596" MONDO:0015290 "SCTID:128080005" -MONDO:0015290 "ICD10:H16.2" MONDO:0015290 "MedDRA:10069732" MONDO:0015290 "UMLS:C0339296" -MONDO:0019881 "ICD10:Q92.3" MONDO:0019881 "Orphanet:96098" MONDO:0019881 "MESH:C537810" MONDO:0019881 "SCTID:763275001" @@ -52195,13 +50942,12 @@ MONDO:0009260 "Orphanet:354" MONDO:0009260 "UMLS:C0085131" MONDO:0009260 "GARD:0006479" MONDO:0009260 "DOID:0080502" -MONDO:0009260 "ICD10:E75.1" MONDO:0009260 "OMIM:230500" MONDO:0009260 "SCTID:238026007" MONDO:0009260 "Orphanet:79255" +MONDO:0009260 "ICD10CM:E75.1" MONDO:0012327 "UMLS:C1864815" MONDO:0012327 "OMIM:609647" -MONDO:0012327 "ICD10:H90.3" MONDO:0012327 "DOID:0110503" MONDO:0012327 "MESH:C566459" NCBITaxon:91561 "GC_ID:1" @@ -52209,8 +50955,8 @@ MONDO:0034041 "Orphanet:538101" MONDO:0008063 "MESH:C563533" MONDO:0008063 "UMLS:C1834371" MONDO:0008063 "OMIM:161470" +MONDO:0019859 "ICD10CM:Q89.2" MONDO:0019859 "Orphanet:95718" -MONDO:0019859 "ICD10:Q89.2" MONDO:0006751 "MESH:D004889" MONDO:0006751 "SCTID:367434002" MONDO:0006751 "EFO:1000927" @@ -52232,32 +50978,30 @@ MONDO:0003212 "DOID:4931" MONDO:0003212 "UMLS:C1377785" MONDO:0003212 "NCIT:C9336" MONDO:0003212 "SCTID:448990005" +MONDO:0016692 "ICD10CM:C71.9" MONDO:0016692 "NCIT:C40315" -MONDO:0016692 "ICD10:C71.9" MONDO:0016692 "UMLS:C1519086" MONDO:0016692 "Orphanet:251615" MONDO:0016692 "DOID:4845" MONDO:0016692 "ONCOTREE:PMA" MONDO:0016692 "ICDO:9425/3" MONDO:0020048 "Orphanet:981" +MONDO:0020048 "ICD10CM:Q28.1" MONDO:0020048 "GARD:0003012" -MONDO:0020048 "ICD10:Q28.1" MONDO:0020048 "SCTID:722004001" MONDO:0006729 "MESH:D021922" MONDO:0006729 "UMLS:C0012628" MONDO:0006729 "EFO:1000901" MONDO:0006729 "DOID:5804" MONDO:0018892 "MESH:C536752" -MONDO:0018892 "ICD10:Q28.2" MONDO:0018892 "Orphanet:53719" +MONDO:0018892 "ICD10CM:Q28.2" MONDO:0018892 "UMLS:C0265321" MONDO:0018892 "GARD:0007900" MONDO:0018892 "SCTID:6729006" MONDO:0018892 "MedDRA:10048661" MONDO:0200000 "UMLS:C3640823" MONDO:0200000 "NCIT:C102570" -HP:0012252 "UMLS:C4022992" -HP:0012252 "Fyler:4235" MONDO:0013768 "Orphanet:51608" MONDO:0013768 "UMLS:C3276161" MONDO:0013768 "OMIM:614473" @@ -52265,11 +51009,13 @@ MONDO:0012514 "UMLS:C1864663" MONDO:0012514 "SCTID:702379005" MONDO:0012514 "ICD9:341.8" MONDO:0012514 "MESH:C567166" -MONDO:0012514 "ICD10:G37.8" MONDO:0012514 "DOID:0060793" MONDO:0012514 "OMIM:610532" +MONDO:0012514 "ICD10CM:G37.8" MONDO:0012514 "GARD:0011980" MONDO:0012514 "Orphanet:85163" +HP:0012252 "UMLS:C4022992" +HP:0012252 "Fyler:4235" MONDO:0000488 "UMLS:CN068444" MONDO:0000488 "DOID:0050849" MONDO:0015797 "DOID:0060240" @@ -52285,7 +51031,6 @@ MONDO:0015797 "OMIMPS:600630" NCBITaxon:630 "GC_ID:11" MONDO:0001430 "UMLS:C0155095" MONDO:0001430 "ICD9:370.63" -MONDO:0001430 "ICD10:H16.44" MONDO:0001430 "SCTID:2102007" MONDO:0001430 "DOID:12087" MONDO:0007333 "Orphanet:888" @@ -52295,11 +51040,11 @@ MONDO:0018900 "SCTID:720751000" MONDO:0018900 "UMLS:CN205271" MONDO:0018900 "Orphanet:54251" MONDO:0018900 "GARD:0010946" +MONDO:0006916 "ICD10CM:K91.5" MONDO:0006916 "DOID:9740" MONDO:0006916 "EFO:1001117" MONDO:0006916 "UMLS:C0152099" MONDO:0006916 "ICD9:576.0" -MONDO:0006916 "ICD10:K91.5" MONDO:0006916 "MESH:D017562" MONDO:0006916 "SCTID:90782003" NCBITaxon:712 "PMID:15280320" @@ -52317,7 +51062,7 @@ MONDO:0011112 "GARD:0005578" MONDO:0011112 "OMIM:601583" MONDO:0011112 "Orphanet:654" MONDO:0010556 "OMIM:302960" -MONDO:0010556 "ICD10:Q77.3" +MONDO:0010556 "ICD10CM:Q77.3" MONDO:0010556 "OMIM:302950" MONDO:0010556 "UMLS:C0263627" MONDO:0010556 "DOID:0060292" @@ -52329,14 +51074,14 @@ MONDO:0060583 "OMIM:617718" MONDO:0010732 "OMIM:312910" MONDO:0010732 "GARD:0005555" MONDO:0010732 "UMLS:C2931291" +MONDO:0010732 "ICD10CM:G11.4" MONDO:0010732 "MESH:C536692" -MONDO:0010732 "ICD10:G11.4" MONDO:0010732 "SCTID:715504003" MONDO:0010732 "Orphanet:2815" +MONDO:0013955 "ICD10CM:D84.8" MONDO:0013955 "Orphanet:319552" MONDO:0013955 "OMIM:614891" MONDO:0013955 "UMLS:C4013949" -MONDO:0013955 "ICD10:D84.8" MONDO:0013955 "GARD:0010984" MONDO:0021538 "UMLS:C0280306" MONDO:0021538 "SCTID:403889000" @@ -52344,7 +51089,7 @@ MONDO:0021538 "NCIT:C8174" MONDO:0009388 "HP:0002161" MONDO:0009388 "ICD9:270.7" MONDO:0009388 "SCTID:58558003" -MONDO:0009388 "ICD10:E72.3" +MONDO:0009388 "ICD10CM:E72.3" MONDO:0009388 "NCIT:C123433" MONDO:0009388 "OMIM:238700" MONDO:0009388 "DOID:9274" @@ -52354,7 +51099,6 @@ MONDO:0009388 "GARD:0002828" MONDO:0009388 "UMLS:C0268553" MONDO:0034106 "OMIM:618379" MONDO:0034106 "Orphanet:544503" -MONDO:0012737 "ICD10:I45.8" MONDO:0012737 "Orphanet:334" MONDO:0012737 "OMIM:611819" MONDO:0012737 "MESH:C567514" @@ -52367,7 +51111,7 @@ MONDO:0007691 "MedDRA:10057645" MONDO:0007691 "SCTID:716723000" MONDO:0007691 "Orphanet:98916" MONDO:0007691 "OMIM:139393" -MONDO:0007691 "ICD10:G61.8" +MONDO:0007691 "ICD10CM:G61.8" MONDO:0007691 "GARD:0006102" MONDO:0004958 "UMLS:C0585362" MONDO:0004958 "SCTID:307502000" @@ -52380,7 +51124,6 @@ MONDO:0004958 "NCIT:C4833" MONDO:0004958 "Orphanet:502363" MONDO:0007520 "MESH:C565062" MONDO:0007520 "OMIM:129900" -MONDO:0007520 "ICD10:Q82.4" MONDO:0007520 "UMLS:C0406704" MONDO:0007520 "Orphanet:1896" MONDO:0007520 "DOID:0060784" @@ -52388,25 +51131,25 @@ MONDO:0011997 "UMLS:C1842362" MONDO:0011997 "GARD:0009435" MONDO:0011997 "Orphanet:79430" MONDO:0011997 "NCIT:C150368" -MONDO:0011997 "ICD10:E70.3" MONDO:0011997 "Orphanet:183678" MONDO:0011997 "OMIM:608233" +MONDO:0011997 "ICD10CM:E70.3" MONDO:0011997 "DOID:0060540" MONDO:0011997 "MESH:C537709" HP:0011376 "UMLS:C0542259" -MONDO:0019334 "ICD10:E16.1" MONDO:0019334 "OMIM:601820" MONDO:0019334 "UMLS:CN206003" +MONDO:0019334 "ICD10CM:E16.1" MONDO:0019334 "Orphanet:79644" NCBITaxon:33342 "GC_ID:1" -MONDO:0016284 "ICD10:C53.1" +MONDO:0016284 "ICD10CM:C53.1" +MONDO:0016284 "ICD10CM:C53.8" +MONDO:0016284 "ICD10CM:C53.0" MONDO:0016284 "Orphanet:213812" -MONDO:0016284 "ICD10:C53.0" -MONDO:0016284 "ICD10:C53.8" MONDO:0016284 "UMLS:CN201074" +MONDO:0018137 "ICD10CM:E70.3" MONDO:0018137 "UMLS:C1847132" MONDO:0018137 "Orphanet:352737" -MONDO:0018137 "ICD10:E70.3" MONDO:0018137 "OMIM:606952" MONDO:0008248 "UMLS:C0406515" MONDO:0008248 "OMIM:172900" @@ -52422,12 +51165,12 @@ MONDO:0043786 "SCTID:370469003" NCBITaxon:7198 "GC_ID:1" NCBITaxon:7198 "PMID:9835021" MONDO:0016355 "Orphanet:220386" -MONDO:0016355 "ICD10:Q04.2" MONDO:0016355 "OMIM:609637" +MONDO:0016355 "ICD10CM:Q04.2" MONDO:0016355 "OMIM:157170" MONDO:0016355 "OMIM:610829" MONDO:0015101 "Orphanet:101104" -MONDO:0015101 "ICD10:Q07.8" +MONDO:0015101 "ICD10CM:Q07.8" MONDO:0015101 "UMLS:CN197448" MONDO:0014676 "Orphanet:261" MONDO:0014676 "DOID:0070248" @@ -52441,16 +51184,15 @@ MONDO:0005445 "OMIMPS:608207" MONDO:0005445 "MESH:D007898" MONDO:0005445 "EFO:0005045" MONDO:0005445 "ICD9:085.0" +MONDO:0005445 "ICD10CM:B55.0" MONDO:0005445 "UMLS:C0023290" MONDO:0005445 "DOID:9146" -MONDO:0005445 "ICD10:B55.0" MONDO:0010062 "Orphanet:1185" -MONDO:0010062 "ICD10:G11.8" +MONDO:0010062 "ICD10CM:G11.8" MONDO:0010062 "UMLS:C1849088" MONDO:0010062 "GARD:0004958" MONDO:0010062 "OMIM:271270" MONDO:0010062 "MESH:C564802" -MONDO:0001196 "ICD10:F52.6" MONDO:0001196 "ICD9:302.76" MONDO:0001196 "DOID:11120" MONDO:0001196 "MESH:D004414" @@ -52459,8 +51201,8 @@ MONDO:0012262 "Orphanet:45358" MONDO:0012262 "UMLS:C2750404" MONDO:0012262 "OMIM:609384" MONDO:0012262 "MESH:C567666" +MONDO:0019731 "ICD10CM:E85.0" MONDO:0019731 "Orphanet:93560" -MONDO:0019731 "ICD10:E85.0" MONDO:0019731 "UMLS:CN206638" MONDO:0014758 "OMIM:616738" MONDO:0014758 "UMLS:C4225221" @@ -52471,8 +51213,6 @@ MONDO:0015229 "DOID:1935" MONDO:0015229 "OMIM:605231" MONDO:0015229 "GARD:0006866" MONDO:0015229 "OMIM:615991" -MONDO:0015229 "ICD10:Q87.89" -MONDO:0015229 "ICD10:Q87.8" MONDO:0015229 "OMIM:615992" MONDO:0015229 "MESH:D020788" MONDO:0015229 "OMIM:617119" @@ -52485,6 +51225,7 @@ MONDO:0015229 "OMIM:615996" MONDO:0015229 "SCTID:5619004" MONDO:0015229 "OMIM:615981" MONDO:0015229 "OMIM:615982" +MONDO:0015229 "ICD10CM:Q87.8" MONDO:0015229 "MedDRA:10056715" MONDO:0015229 "OMIM:615994" MONDO:0015229 "OMIM:615985" @@ -52502,7 +51243,6 @@ MONDO:0015229 "OMIM:209900" MONDO:0012329 "UMLS:C1864791" MONDO:0012329 "MESH:C566457" MONDO:0012329 "OMIM:609654" -MONDO:0001033 "ICD10:H16.06" MONDO:0001033 "UMLS:C0155071" MONDO:0001033 "SCTID:397977001" MONDO:0001033 "DOID:10440" @@ -52510,10 +51250,10 @@ MONDO:0001033 "ICD9:370.05" MONDO:0017429 "Orphanet:294949" MONDO:0032565 "OMIM:618155" MONDO:0016542 "OMIM:615767" +MONDO:0016542 "ICD10CM:K52.8" MONDO:0016542 "UMLS:CN201623" MONDO:0016542 "OMIM:613148" MONDO:0016542 "GARD:0013016" -MONDO:0016542 "ICD10:K52.8" MONDO:0016542 "Orphanet:238569" MONDO:0016542 "OMIM:612567" MONDO:0012106 "MESH:C563871" @@ -52521,15 +51261,15 @@ MONDO:0012106 "OMIM:608716" MONDO:0012106 "DOID:0070280" MONDO:0012106 "UMLS:C1837501" MONDO:0013664 "UMLS:C1839840" +MONDO:0013664 "ICD10CM:E29.1" MONDO:0013664 "DOID:0111773" -MONDO:0013664 "ICD10:E29.1" MONDO:0013664 "SCTID:49013001" MONDO:0013664 "Orphanet:90796" MONDO:0013664 "OMIM:614279" MONDO:0013664 "Orphanet:443087" MONDO:0013664 "MESH:C564109" MONDO:0020519 "ICD9:277.89" -MONDO:0020519 "ICD10:C96.5" +MONDO:0020519 "ICD10CM:C96.5" MONDO:0020519 "ICDO:9753/1" MONDO:0020519 "Orphanet:99873" MONDO:0020519 "UMLS:CN207416" @@ -52537,7 +51277,6 @@ MONDO:0020519 "SCTID:39795003" MONDO:0020519 "NCIT:C6920" NCBITaxon:1314886 "GC_ID:1" MONDO:0015741 "Orphanet:1716" -MONDO:0015741 "ICD10:Q92.3" MONDO:0017087 "Orphanet:268865" MONDO:0003993 "DOID:6787" MONDO:0003993 "UMLS:C1332945" @@ -52545,26 +51284,25 @@ MONDO:0003993 "NCIT:C35556" MONDO:0022780 "GARD:0001382" MONDO:0018033 "Orphanet:331193" MONDO:0018033 "UMLS:CN204276" -MONDO:0012516 "SCTID:711543008" -MONDO:0012516 "ICD10:Q87.0" -MONDO:0012516 "MESH:C537405" -MONDO:0012516 "UMLS:C1864652" -MONDO:0012516 "OMIM:610536" MONDO:0012516 "Orphanet:79113" -MONDO:0012516 "GARD:0010056" +MONDO:0012516 "OMIM:610536" MONDO:0012516 "DOID:0080196" +MONDO:0012516 "GARD:0010056" +MONDO:0012516 "SCTID:711543008" +MONDO:0012516 "ICD10CM:Q87.0" +MONDO:0012516 "UMLS:C1864652" +MONDO:0012516 "MESH:C537405" MONDO:0005154 "UMLS:C0023895" MONDO:0005154 "NCIT:C50634" MONDO:0005154 "ICD9:573.8" MONDO:0005154 "MESH:D008107" -MONDO:0005154 "ICD10:K76.9" -MONDO:0005154 "ICD10:K70-K77" MONDO:0005154 "DOID:409" MONDO:0005154 "EFO:0001421" MONDO:0005154 "SCTID:235856003" MONDO:0005154 "ICD9:573.9" +MONDO:0005154 "ICD10CM:K70-K77" MONDO:0005154 "NCIT:C3196" -MONDO:0007123 "ICD10:Q87.0" +MONDO:0007123 "ICD10CM:Q87.0" MONDO:0007123 "SCTID:400952003" MONDO:0007123 "OMIM:106250" MONDO:0007123 "MESH:C536373" @@ -52577,23 +51315,23 @@ MONDO:0043168 "MESH:C537164" MONDO:0043168 "GARD:0004213" MONDO:0004737 "OMIM:236200" MONDO:0004737 "NCIT:C84765" -MONDO:0004737 "Orphanet:394" MONDO:0004737 "DOID:9263" +MONDO:0004737 "Orphanet:394" MONDO:0004737 "HP:0002156" MONDO:0004737 "OMIM:236250" MONDO:0004737 "GARD:0010770" MONDO:0004737 "UMLS:C0019880" -MONDO:0004737 "ICD10:E72.11" +MONDO:0004737 "ICD10CM:E72.11" MONDO:0004737 "SCTID:11282001" MONDO:0010148 "UMLS:C0040587" MONDO:0010148 "ICD9:748.3" MONDO:0010148 "MESH:D014137" -MONDO:0010148 "ICD10:J98.0" MONDO:0010148 "OMIM:275300" MONDO:0010148 "MedDRA:10044316" MONDO:0010148 "NCIT:C85196" MONDO:0010148 "GARD:0003793" MONDO:0010148 "SCTID:57451009" +MONDO:0010148 "ICD10CM:J98.0" MONDO:0010148 "UMLS:C2713583" MONDO:0010148 "GARD:0005234" MONDO:0010148 "Orphanet:3347" @@ -52603,25 +51341,24 @@ MONDO:0005811 "EFO:0007327" MONDO:0020213 "Orphanet:98626" MONDO:0020213 "ICD9:371.56" MONDO:0020213 "UMLS:C0038457" +MONDO:0020213 "ICD10CM:H18.5" MONDO:0020213 "DOID:0060442" -MONDO:0020213 "ICD10:H18.5" MONDO:0020213 "SCTID:231931001" MONDO:0013547 "OMIM:614053" -MONDO:0013547 "ICD10:E88.8" MONDO:0013547 "DOID:0060332" MONDO:0013547 "UMLS:C3279708" MONDO:0013547 "Orphanet:254913" MONDO:0015095 "UMLS:C2931652" +MONDO:0015095 "ICD10CM:Q13.3" MONDO:0015095 "Orphanet:101033" -MONDO:0015095 "ICD10:Q13.3" MONDO:0015095 "MESH:C537885" HP:0003808 "UMLS:C0852413" MONDO:0000653 "DOID:0060122" MONDO:0010558 "OMIM:303110" -MONDO:0010558 "ICD10:Q87.8" MONDO:0010558 "UMLS:C1844836" MONDO:0010558 "GARD:0000369" MONDO:0010558 "MESH:C537793" +MONDO:0010558 "ICD10CM:Q87.8" MONDO:0010558 "Orphanet:1435" MONDO:0010558 "SCTID:717761005" HP:0004319 "UMLS:C0020595" @@ -52635,12 +51372,12 @@ MONDO:0010734 "OMIM:313000" MONDO:0010734 "UMLS:C1839262" MONDO:0010734 "MESH:C564058" MONDO:0009238 "GARD:0012983" -MONDO:0009238 "ICD10:D52.8" MONDO:0009238 "MESH:C562799" MONDO:0009238 "UMLS:C0342705" MONDO:0009238 "Orphanet:90045" MONDO:0009238 "SCTID:62578003" MONDO:0009238 "OMIM:229050" +MONDO:0009238 "ICD10CM:D52.8" MONDO:0009238 "DOID:0111678" MONDO:0022851 "GARD:0000290" MONDO:0022851 "MESH:C538210" @@ -52680,7 +51417,7 @@ MONDO:0010335 "OMIM:300476" MONDO:0010335 "MESH:C564507" MONDO:0014151 "OMIM:615371" MONDO:0020400 "Orphanet:99059" -MONDO:0020400 "ICD10:Q23.2" +MONDO:0020400 "ICD10CM:Q23.2" MONDO:0002832 "NCIT:C40154" MONDO:0002832 "DOID:4005" MONDO:0002832 "UMLS:C1516864" @@ -52717,45 +51454,44 @@ MONDO:0008530 "UMLS:C1861274" MONDO:0044921 "NCIT:C7764" MONDO:0044921 "UMLS:C0272217" MONDO:0044921 "SCTID:20991001" -MONDO:0006782 "ICD10:N85.7" MONDO:0006782 "DOID:9958" MONDO:0006782 "EFO:1000962" MONDO:0006782 "ICD9:621.4" MONDO:0006782 "MESH:D006409" +MONDO:0006782 "ICD10CM:N85.7" MONDO:0006782 "SCTID:38280009" MONDO:0012193 "MESH:C563794" +MONDO:0012193 "ICD10CM:G71.0" MONDO:0012193 "DOID:0110306" MONDO:0012193 "OMIM:609115" MONDO:0012193 "GARD:0012531" MONDO:0012193 "Orphanet:55596" -MONDO:0012193 "ICD10:G71.0" MONDO:0012193 "SCTID:719990003" MONDO:0002186 "DOID:2050" -MONDO:0002186 "ICD10:J01.0" MONDO:0002186 "UMLS:C0155804" -MONDO:0002186 "ICD10:J01.00" +MONDO:0002186 "ICD10CM:J01.0" MONDO:0002186 "SCTID:68272006" MONDO:0002186 "ICD9:461.0" -MONDO:0011776 "SCTID:239826001" +MONDO:0011776 "ICD10CM:E85.0" MONDO:0011776 "DOID:0090029" -MONDO:0011776 "OMIM:607115" -MONDO:0011776 "ICD10:E85.0" MONDO:0011776 "ICD9:759.89" +MONDO:0011776 "SCTID:239826001" +MONDO:0011776 "OMIM:607115" MONDO:0011776 "NCIT:C116380" -MONDO:0011776 "Orphanet:1451" MONDO:0011776 "GARD:0001356" +MONDO:0011776 "Orphanet:1451" MONDO:0033954 "Orphanet:529468" -MONDO:0016544 "ICD10:K65.8" MONDO:0016544 "SCTID:1092381000119100" MONDO:0016544 "Orphanet:238593" +MONDO:0016544 "ICD10CM:K65.8" MONDO:0016544 "GARD:0008169" CL:0000853 "FMA:62302" MONDO:0001820 "SCTID:61794006" MONDO:0001820 "UMLS:C0155505" MONDO:0001820 "ICD9:386.32" MONDO:0001820 "DOID:13867" +MONDO:0019920 "ICD10CM:Q99.8" MONDO:0019920 "Orphanet:96190" -MONDO:0019920 "ICD10:Q99.8" MONDO:0013319 "UMLS:C3150857" MONDO:0013319 "OMIM:613603" MONDO:0018723 "Orphanet:458844" @@ -52770,7 +51506,6 @@ MONDO:0045058 "UMLS:C0278862" MONDO:0004212 "NCIT:C40288" MONDO:0004212 "DOID:7408" MONDO:0004212 "UMLS:C1520086" -MONDO:0009971 "ICD10:P22.0" MONDO:0009971 "SCTID:46775006" MONDO:0009971 "UMLS:C0035220" MONDO:0009971 "EFO:1000644" @@ -52785,33 +51520,31 @@ MONDO:0009971 "NCIT:C27560" NCBITaxon:485 "GC_ID:11" MONDO:0012380 "OMIM:609965" MONDO:0012380 "DOID:0110579" -MONDO:0012380 "ICD10:H90.3" MONDO:0012380 "MESH:C566495" MONDO:0012380 "UMLS:C1864957" MONDO:0012380 "GARD:0009934" MONDO:0002069 "DOID:1650" MONDO:0002069 "UMLS:C0153554" -MONDO:0002069 "ICD10:C50.61" MONDO:0002069 "SCTID:188156001" -MONDO:0002069 "ICD10:C50.6" MONDO:0002069 "ICD9:174.6" +MONDO:0002069 "ICD10CM:C50.6" +MONDO:0017985 "GARD:0004630" MONDO:0017985 "MESH:C562408" MONDO:0017985 "Orphanet:3269" -MONDO:0017985 "ICD10:Q74.0" MONDO:0017985 "SCTID:33313004" MONDO:0017985 "ICD9:755.53" MONDO:0017985 "HP:0002974" +MONDO:0017985 "ICD10CM:Q74.0" MONDO:0017985 "GARD:0010876" MONDO:0017985 "OMIM:179300" MONDO:0017985 "DOID:9827" -MONDO:0017985 "GARD:0004630" MONDO:0016731 "UMLS:CN201979" MONDO:0016731 "Orphanet:251940" NCBITaxon:197913 "GC_ID:1" MONDO:0020394 "Orphanet:99053" -MONDO:0020394 "ICD10:Q24.4" +MONDO:0020394 "ICD10CM:Q24.4" MONDO:0018931 "Orphanet:577" -MONDO:0018931 "ICD10:E77.0" +MONDO:0018931 "ICD10CM:E77.0" MONDO:0018931 "OMIM:252600" MONDO:0018931 "Orphanet:423461" MONDO:0018931 "GARD:0003806" @@ -52844,14 +51577,14 @@ MONDO:0006801 "EFO:1000981" MONDO:0014537 "OMIM:616217" MONDO:0014537 "DOID:0111126" MONDO:0014537 "UMLS:C4015542" +MONDO:0015415 "ICD10CM:Q18.8" MONDO:0015415 "Orphanet:141253" -MONDO:0015415 "ICD10:Q18.8" +MONDO:0019157 "ICD10CM:D64.3" MONDO:0019157 "ICD9:238.72" MONDO:0019157 "SCTID:109998009" MONDO:0019157 "NCIT:C4036" MONDO:0019157 "EFO:0003812" MONDO:0019157 "Orphanet:75564" -MONDO:0019157 "ICD10:D64.3" MONDO:0019157 "ICDO:9982/3" MONDO:0004329 "NCIT:C41251" MONDO:0004329 "ICDO:8453/2" @@ -52865,39 +51598,38 @@ MONDO:0006027 "EFO:1000019" MONDO:0018190 "UMLS:CN227282" MONDO:0018190 "UMLS:C1834690" MONDO:0018190 "OMIM:615290" +MONDO:0018190 "ICD10CM:G12.1" MONDO:0018190 "OMIM:158600" MONDO:0018190 "OMIMPS:158600" -MONDO:0018190 "ICD10:G12.1" MONDO:0018190 "Orphanet:363447" MONDO:0007585 "Orphanet:321" MONDO:0007585 "OMIM:133700" MONDO:0007585 "GARD:0002204" MONDO:0020791 "OMIM:122100" MONDO:0004739 "SCTID:36444000" +MONDO:0004739 "ICD10CM:E72.2" MONDO:0004739 "MESH:D056806" MONDO:0004739 "NCIT:C84785" -MONDO:0004739 "ICD10:E72.20" MONDO:0004739 "UMLS:C0154246" MONDO:0004739 "Orphanet:79167" MONDO:0004739 "ICD9:270.6" -MONDO:0004739 "ICD10:E72.2" MONDO:0004739 "GARD:0007837" MONDO:0004739 "DOID:9267" -MONDO:0019536 "ICD10:D59.3" +MONDO:0019536 "ICD10CM:D59.3" MONDO:0019536 "UMLS:CN206363" MONDO:0019536 "OMIM:235400" MONDO:0019536 "GARD:0006241" MONDO:0019536 "Orphanet:90038" MONDO:0018339 "UMLS:C4518776" MONDO:0018339 "SCTID:733422008" +MONDO:0018339 "ICD10CM:G60.8" MONDO:0018339 "Orphanet:397606" -MONDO:0018339 "ICD10:G60.8" MONDO:0001526 "NCIT:C7637" +MONDO:0001526 "ICD10CM:C51.1" MONDO:0001526 "ICD9:184.2" MONDO:0001526 "SCTID:363447008" MONDO:0001526 "DOID:1243" MONDO:0001526 "UMLS:C0496815" -MONDO:0001526 "ICD10:C51.1" MONDO:0007429 "UMLS:C1852267" MONDO:0007429 "Orphanet:1215" MONDO:0007429 "UMLS:C3276549" @@ -52908,7 +51640,7 @@ MONDO:0008133 "SCTID:719517009" MONDO:0008133 "UMLS:C1833809" MONDO:0008133 "MESH:C537128" MONDO:0008133 "DOID:0111433" -MONDO:0008133 "ICD10:H47.2" +MONDO:0008133 "ICD10CM:H47.2" MONDO:0008133 "OMIM:165300" MONDO:0008133 "GARD:0010203" MONDO:0017124 "ICD9:528.1" @@ -52921,11 +51653,9 @@ MONDO:0017124 "MedDRA:10029502" MONDO:0017124 "GARD:0004001" MONDO:0017124 "DOID:9672" MONDO:0017124 "Orphanet:2700" -MONDO:0017124 "ICD10:A69.0" MONDO:0015812 "Orphanet:178533" -MONDO:0015812 "ICD10:C84.4" +MONDO:0015812 "ICD10CM:C84.4" MONDO:0004902 "ICD9:370.50" -MONDO:0004902 "ICD10:H16.30" MONDO:0004902 "UMLS:C0155088" MONDO:0004902 "DOID:9857" HP:0010566 "UMLS:C0018552" @@ -52938,8 +51668,8 @@ MONDO:0015260 "UMLS:C0012561" MONDO:0015260 "DOID:10075" MONDO:0015260 "MedDRA:10013029" MONDO:0015260 "Orphanet:128" +MONDO:0015260 "ICD10CM:B70.0" MONDO:0015260 "GARD:0000942" -MONDO:0015260 "ICD10:B70.0" MONDO:0015260 "NCIT:C128391" MONDO:0015260 "ICD9:123.4" MONDO:0015260 "EFO:0007238" @@ -52947,8 +51677,8 @@ HP:0003256 "SNOMEDCT_US:64779008" HP:0003256 "MSH:D001778" HP:0003256 "SNOMEDCT_US:362970003" HP:0003256 "UMLS:C0005779" -MONDO:0017460 "ICD10:Q70.1" MONDO:0017460 "UMLS:CN203203" +MONDO:0017460 "ICD10CM:Q70.1" MONDO:0017460 "SCTID:763624007" MONDO:0017460 "Orphanet:295012" MONDO:0030463 "OMIM:619585" @@ -52979,13 +51709,13 @@ MONDO:0013487 "ICD9:279.8" MONDO:0013487 "MESH:C565027" MONDO:0013487 "UMLS:C0398764" MONDO:0013487 "Orphanet:169467" -MONDO:0013487 "ICD10:D84.1" +MONDO:0013487 "ICD10CM:D84.1" MONDO:0013487 "OMIM:613912" MONDO:0013487 "SCTID:234607008" MONDO:0014129 "DOID:0110286" +MONDO:0014129 "ICD10CM:G71.0" MONDO:0014129 "OMIM:615325" MONDO:0014129 "Orphanet:363543" -MONDO:0014129 "ICD10:G71.0" MONDO:0014129 "UMLS:C3809137" MONDO:0008072 "GARD:0000863" MONDO:0008072 "OMIM:161950" @@ -53001,12 +51731,12 @@ MONDO:0013066 "UMLS:C2751824" MONDO:0013066 "DOID:0111772" MONDO:0013066 "OMIM:612965" MONDO:0013066 "Orphanet:242" +MONDO:0014012 "ICD10CM:G60.0" MONDO:0014012 "DOID:0110170" MONDO:0014012 "OMIM:615025" MONDO:0014012 "UMLS:C3554366" MONDO:0014012 "Orphanet:329258" MONDO:0014012 "GARD:0012446" -MONDO:0014012 "ICD10:G60.0" MONDO:0010500 "UMLS:C4225418" MONDO:0010500 "OMIM:300966" MONDO:0032721 "OMIM:618392" @@ -53019,7 +51749,6 @@ MONDO:0001235 "UMLS:C0496779" MONDO:0001235 "SCTID:363411007" MONDO:0001235 "ICD9:153.5" MONDO:0001235 "NCIT:C9333" -MONDO:0001235 "ICD10:C18.1" MONDO:0001235 "DOID:11239" MONDO:0001235 "MESH:D001063" MONDO:0003204 "UMLS:C0334306" @@ -53027,36 +51756,34 @@ MONDO:0003204 "DOID:4917" MONDO:0003204 "NCIT:C4142" MONDO:0003204 "ICDO:8262/3" MONDO:0021233 "NCIT:C3000" +MONDO:0003571 "ICD10CM:H83.2" MONDO:0003571 "ICD9:386.5" -MONDO:0003571 "ICD10:H83.2" MONDO:0003571 "ICD9:386.50" MONDO:0003571 "SCTID:5239005" MONDO:0003571 "ICD9:386.58" MONDO:0003571 "DOID:566" -MONDO:0003571 "ICD10:H83.2X9" MONDO:0003571 "UMLS:C0155514" -MONDO:0003571 "ICD10:H83.2X" MONDO:0009761 "OMIM:257350" MONDO:0009761 "MedDRA:10058949" MONDO:0009761 "SCTID:399882002" MONDO:0009761 "MESH:D018191" MONDO:0009761 "DOID:3081" +MONDO:0009761 "ICD10CM:D18.1" MONDO:0009761 "Orphanet:79486" MONDO:0009761 "EFO:1000888" MONDO:0009761 "NCIT:C3724" -MONDO:0009761 "ICD10:D18.1" MONDO:0009761 "GARD:0006234" MONDO:0009761 "ICDO:9173/0" +MONDO:0018192 "ICD10CM:C63.7" MONDO:0018192 "Orphanet:363478" -MONDO:0018192 "ICD10:C63.0" -MONDO:0018192 "ICD10:C63.2" -MONDO:0018192 "ICD10:C63.8" -MONDO:0018192 "ICD10:C63.7" -MONDO:0018192 "ICD10:C63.1" +MONDO:0018192 "ICD10CM:C63.2" +MONDO:0018192 "ICD10CM:C63.8" +MONDO:0018192 "ICD10CM:C63.1" +MONDO:0018192 "ICD10CM:C63.0" MONDO:0011941 "OMIM:607949" HP:0000608 "UMLS:C0024437" HP:0000608 "SNOMEDCT_US:422338006" -MONDO:0010179 "ICD10:Q22.6" +MONDO:0010179 "ICD10CM:Q22.6" MONDO:0010179 "SCTID:718135001" MONDO:0010179 "Orphanet:439" MONDO:0010179 "UMLS:C1848587" @@ -53068,27 +51795,24 @@ MONDO:0020244 "Orphanet:98666" MONDO:0025488 "MESH:D016582" MONDO:0025488 "UMLS:C0085164" MONDO:0005319 "EFO:0003943" -MONDO:0005319 "NCIT:C26795" MONDO:0005319 "SCTID:66308002" +MONDO:0005319 "NCIT:C26795" MONDO:0005319 "MESH:D006810" MONDO:0002676 "UMLS:C0278595" MONDO:0002676 "DOID:3516" MONDO:0002676 "NCIT:C7809" MONDO:0001422 "ICD9:255.12" MONDO:0001422 "SCTID:190507007" -MONDO:0001422 "ICD10:E26.01" +MONDO:0001422 "ICD10CM:E26.0" MONDO:0001422 "NCIT:C34510" MONDO:0001422 "DOID:12028" -MONDO:0001422 "ICD10:E26.0" MONDO:0029133 "OMIM:618129" CL:1000278 "FMA:15066" MONDO:0012358 "Orphanet:548" MONDO:0012358 "OMIM:609888" MONDO:0019053 "UMLS:C0282528" MONDO:0019053 "SCTID:238059005" -MONDO:0019053 "ICD10:E71.50" MONDO:0019053 "Orphanet:68373" -MONDO:0019053 "ICD10:E71.5" MONDO:0019053 "NCIT:C85005" MONDO:0019053 "ICD9:277.86" MONDO:0019053 "DOID:906" @@ -53098,8 +51822,8 @@ MONDO:0037105 "UMLS:C1708771" MONDO:0037105 "NCIT:C45636" MONDO:0013809 "OMIM:614575" MONDO:0013809 "UMLS:C3281223" -MONDO:0009397 "ICD10:E21.0" MONDO:0009397 "UMLS:C1832615" +MONDO:0009397 "ICD10CM:E21.0" MONDO:0009397 "SCTID:715218009" MONDO:0009397 "MESH:C563375" MONDO:0009397 "NCIT:C131853" @@ -53113,6 +51837,7 @@ MONDO:0015993 "OMIM:612657" MONDO:0015993 "OMIM:614500" MONDO:0015993 "OMIM:600624" MONDO:0015993 "OMIM:604393" +MONDO:0015993 "ICD10CM:H35.5" MONDO:0015993 "OMIM:300834" MONDO:0015993 "OMIM:610283" MONDO:0015993 "OMIM:600977" @@ -53128,7 +51853,6 @@ MONDO:0015993 "OMIM:610478" MONDO:0015993 "OMIM:304020" MONDO:0015993 "OMIM:615973" MONDO:0015993 "DOID:0050572" -MONDO:0015993 "ICD10:H35.5" MONDO:0015993 "OMIM:612775" MONDO:0015993 "OMIM:601777" MONDO:0015993 "OMIM:303700" @@ -53159,10 +51883,10 @@ MONDO:0043300 "UMLS:C0267026" MONDO:0043300 "MESH:C535669" MONDO:0043300 "GARD:0009619" MONDO:0014702 "DOID:0110825" +MONDO:0014702 "ICD10CM:G11.4" MONDO:0014702 "UMLS:C4225272" MONDO:0014702 "OMIM:616586" MONDO:0014702 "Orphanet:447760" -MONDO:0014702 "ICD10:G11.4" MONDO:0003291 "DOID:5132" MONDO:0003291 "NCIT:C4482" MONDO:0003291 "UMLS:C0346064" @@ -53172,21 +51896,19 @@ MONDO:0004622 "UMLS:C0311262" MONDO:0004622 "ICD9:557.1" MONDO:0004622 "DOID:8633" MONDO:0010891 "UMLS:C1838120" -MONDO:0010891 "ICD10:D58.8" MONDO:0010891 "MESH:C563935" MONDO:0010891 "GARD:0002642" MONDO:0010891 "OMIM:600461" MONDO:0010891 "Orphanet:1046" +MONDO:0010891 "ICD10CM:D58.8" NCBITaxon:63419 "GC_ID:1" -MONDO:0001528 "ICD9:184.4" -MONDO:0001528 "NCIT:C7502" MONDO:0001528 "SCTID:363367000" -MONDO:0001528 "ICD10:C51.9" -MONDO:0001528 "ICD10:C51" -MONDO:0001528 "SCTID:126922007" -MONDO:0001528 "DOID:1245" MONDO:0001528 "MESH:D014846" MONDO:0001528 "GARD:0009349" +MONDO:0001528 "DOID:1245" +MONDO:0001528 "SCTID:126922007" +MONDO:0001528 "ICD9:184.4" +MONDO:0001528 "NCIT:C7502" MONDO:0032691 "OMIM:618347" MONDO:0013255 "OMIM:613404" MONDO:0013255 "Orphanet:2697" @@ -53194,16 +51916,15 @@ MONDO:0013255 "DOID:0111354" MONDO:0013255 "UMLS:C3150672" MONDO:0015110 "Orphanet:101934" MONDO:0015110 "UMLS:CN197467" -MONDO:0004904 "ICD10:H35.38" MONDO:0004904 "DOID:9867" MONDO:0004904 "SCTID:44115007" MONDO:0004904 "UMLS:C0271086" MONDO:0004904 "ICD9:362.55" MONDO:0014201 "OMIM:615476" MONDO:0014201 "DOID:0080413" -MONDO:0014201 "ICD10:G40.4" MONDO:0014201 "Orphanet:369894" MONDO:0014201 "UMLS:C3809624" +MONDO:0014201 "ICD10CM:G40.4" MONDO:0016347 "Orphanet:218436" MONDO:0016347 "UMLS:CN201185" MONDO:0007637 "Orphanet:98974" @@ -53215,14 +51936,13 @@ MONDO:0014411 "OMIM:615946" MONDO:0015238 "GARD:0008755" MONDO:0015238 "Orphanet:1135" MONDO:0015238 "OMIM:603457" -MONDO:0015238 "ICD10:Q87.0" +MONDO:0015238 "ICD10CM:Q87.0" MONDO:0000516 "DOID:0050898" NCBITaxon:34607 "GC_ID:1" MONDO:0024352 "SCTID:312133006" MONDO:0024352 "NCIT:C27219" MONDO:0024352 "ICD9:519.8" MONDO:0011473 "UMLS:C1858301" -MONDO:0011473 "ICD10:H35.5" MONDO:0011473 "MESH:C536602" MONDO:0011473 "GARD:0009983" MONDO:0011473 "DOID:0110215" @@ -53234,27 +51954,26 @@ MONDO:0014696 "OMIM:616570" MONDO:0014696 "Orphanet:1466" MONDO:0013673 "EFO:0009063" MONDO:0013673 "MESH:C565631" -MONDO:0013673 "ICD10:E13.8" MONDO:0013673 "UMLS:C3280358" MONDO:0013673 "OMIM:614296" MONDO:0013673 "DOID:0080584" MONDO:0013673 "Orphanet:411590" MONDO:0013673 "UMLS:C4518338" MONDO:0013673 "SCTID:734022008" +MONDO:0013673 "ICD10CM:E13.8" MONDO:0002108 "ICD9:193" MONDO:0002108 "UMLS:CN221577" +MONDO:0002108 "ICD10CM:C73-C75" MONDO:0002108 "DOID:1781" MONDO:0002108 "SCTID:363478007" MONDO:0002108 "SCTID:127018007" MONDO:0002108 "KEGG:05216" -MONDO:0002108 "ICD10:C73" MONDO:0002108 "NCIT:C7510" MONDO:0004035 "UMLS:C1333824" MONDO:0004035 "DOID:6906" MONDO:0004035 "NCIT:C27496" MONDO:0032723 "OMIM:618394" MONDO:0001392 "MESH:D005099" -MONDO:0001392 "ICD10:H50.11" MONDO:0001392 "UMLS:C0152206" MONDO:0001392 "ICD9:378.11" MONDO:0001392 "SCTID:5725006" @@ -53264,10 +51983,10 @@ MONDO:0017788 "Orphanet:314002" MONDO:0008626 "MESH:C566012" MONDO:0008626 "UMLS:C1860586" MONDO:0008626 "OMIM:191550" -MONDO:0017809 "ICD10:E75.4" MONDO:0017809 "UMLS:CN203776" MONDO:0017809 "Orphanet:314632" MONDO:0017809 "OMIM:606693" +MONDO:0017809 "ICD10CM:E75.4" MONDO:0016987 "GARD:0010902" MONDO:0016987 "NCIT:C84926" MONDO:0016987 "Orphanet:263440" @@ -53283,8 +52002,8 @@ MONDO:0004214 "DOID:7411" MONDO:0004214 "UMLS:C1335158" MONDO:0013860 "NCIT:C123060" MONDO:0013860 "UMLS:C0086445" -MONDO:0013860 "ICD10:N04.2" MONDO:0013860 "GARD:0009180" +MONDO:0013860 "ICD10CM:N04.2" MONDO:0013860 "SCTID:722119002" MONDO:0013860 "OMIM:614692" MONDO:0013860 "Orphanet:97560" @@ -53301,32 +52020,30 @@ MONDO:0013927 "MESH:C566633" MONDO:0017283 "UMLS:CN202845" MONDO:0017283 "Orphanet:284169" MONDO:0017283 "OMIM:616708" -MONDO:0017283 "ICD10:Q83.5" -MONDO:0015804 "ICD10:A05.1" MONDO:0015804 "Orphanet:178478" MONDO:0015804 "SCTID:414488002" -MONDO:0015804 "ICD10:A48.51" +MONDO:0015804 "ICD10CM:A48.51" MONDO:0015804 "UMLS:C0238027" MONDO:0015804 "NCIT:C128343" +MONDO:0015804 "ICD10CM:A05.1" MONDO:0015804 "DOID:0050354" MONDO:0008164 "UMLS:CN032031" MONDO:0008164 "OMIM:166800" MONDO:0008164 "UMLS:C0029899" MONDO:0002279 "ICD9:275.0" -MONDO:0002279 "ICD10:E83.1" MONDO:0002279 "DOID:2351" MONDO:0002279 "MESH:D019189" MONDO:0002279 "SCTID:30913008" +MONDO:0002279 "ICD10CM:E83.1" MONDO:0002279 "UMLS:C0012715" -MONDO:0002279 "ICD10:E83.10" MONDO:0001025 "DOID:10399" MONDO:0001025 "SCTID:23975003" MONDO:0001025 "ICD9:098.34" MONDO:0001025 "UMLS:C0153205" MONDO:0001899 "UMLS:C0155582" MONDO:0001899 "ICD9:398.91" +MONDO:0001899 "ICD10CM:I09.81" MONDO:0001899 "DOID:14172" -MONDO:0001899 "ICD10:I09.81" MONDO:0001899 "SCTID:82523003" MONDO:0022453 "GARD:0008313" MONDO:0022453 "UMLS:C2959445" @@ -53339,7 +52056,7 @@ MONDO:0005655 "UMLS:C0003952" MONDO:0005655 "SCTID:76160002" MONDO:0005655 "SCTID:2435008" MONDO:0005655 "MESH:D001198" -MONDO:0005655 "ICD10:B77" +MONDO:0005655 "ICD10CM:B77" MONDO:0004401 "UMLS:C1377904" MONDO:0004401 "NCIT:C9077" MONDO:0004401 "DOID:7928" @@ -53352,20 +52069,19 @@ HP:0002373 "UMLS:C0009952" HP:0002373 "SNOMEDCT_US:41497008" HP:0011805 "UMLS:C4023181" MONDO:0018685 "SCTID:233908008" -MONDO:0018685 "ICD10:I47.2" +MONDO:0018685 "ICD10CM:I47.2" MONDO:0018685 "Orphanet:45453" MONDO:0018685 "UMLS:C0340487" MONDO:0012523 "UMLS:C1864621" MONDO:0012523 "MESH:C566431" -MONDO:0012523 "ICD10:H35.5" -MONDO:0012523 "OMIM:610599" MONDO:0012523 "DOID:0110405" +MONDO:0012523 "OMIM:610599" MONDO:0012523 "GARD:0010403" MONDO:0009566 "GARD:0003388" MONDO:0009566 "UMLS:C1855347" MONDO:0009566 "OMIM:248770" MONDO:0009566 "MESH:C565410" -MONDO:0009566 "ICD10:Q87.8" +MONDO:0009566 "ICD10CM:Q87.8" MONDO:0009566 "Orphanet:2463" CL:0000526 "FMA:87653" MONDO:0000497 "DOID:0050862" @@ -53386,9 +52102,7 @@ MONDO:0005185 "SCTID:410793008" MONDO:0005185 "EFO:0002609" MONDO:0005185 "NCIT:C27179" MONDO:0005185 "DOID:676" -MONDO:0004896 "ICD10:H50.0" MONDO:0004896 "DOID:9840" -MONDO:0004896 "ICD10:H50.00" MONDO:0004896 "UMLS:C0014877" MONDO:0004896 "ICD9:378.0" MONDO:0004896 "NCIT:C34596" @@ -53398,31 +52112,31 @@ MONDO:0004896 "ICD9:378.00" MONDO:0004896 "SCTID:16596007" MONDO:0010531 "SCTID:720746006" MONDO:0010531 "GARD:0001515" -MONDO:0010531 "ICD10:Q87.8" +MONDO:0010531 "ICD10CM:Q87.8" MONDO:0010531 "OMIM:301815" MONDO:0010531 "Orphanet:1484" MONDO:0005842 "SCTID:88348008" -MONDO:0005842 "ICD10:J32.0" MONDO:0005842 "DOID:2051" MONDO:0005842 "EFO:0007361" MONDO:0005842 "UMLS:C0024959" MONDO:0005842 "MESH:D015523" +MONDO:0005842 "ICD10CM:J32.0" MONDO:0005842 "NCIT:C34809" MONDO:0003141 "UMLS:C1332904" MONDO:0003141 "DOID:4787" MONDO:0003141 "NCIT:C5436" NCBITaxon:2732533 "GC_ID:1" -MONDO:0017673 "ICD10:Q82.8" MONDO:0017673 "Orphanet:307846" +MONDO:0017673 "ICD10CM:Q82.8" NCBITaxon:37567 "GC_ID:1" MONDO:0003070 "NCIT:C27333" MONDO:0003070 "DOID:4640" MONDO:0003070 "UMLS:C0919797" +MONDO:0011252 "ICD10CM:Q77.7" MONDO:0011252 "Orphanet:93352" MONDO:0011252 "GARD:0004980" MONDO:0011252 "SCTID:719201004" MONDO:0011252 "MESH:C566523" -MONDO:0011252 "ICD10:Q77.7" MONDO:0011252 "UMLS:C1865185" MONDO:0011252 "OMIM:602557" MONDO:0000684 "DOID:0060154" @@ -53434,17 +52148,16 @@ MONDO:0000705 "NCIT:C35286" MONDO:0000705 "MedDRA:10009657" MONDO:0000705 "DOID:0060185" MONDO:0000705 "EFO:0009130" -MONDO:0000705 "ICD10:A04.7" MONDO:0000705 "MESH:D004761" MONDO:0000705 "SCTID:423590009" MONDO:0009787 "Orphanet:67047" MONDO:0009787 "OMIM:258501" MONDO:0009787 "DOID:0110004" MONDO:0009787 "UMLS:C0574084" -MONDO:0009787 "ICD10:E71.1" MONDO:0009787 "SCTID:297232009" MONDO:0009787 "MESH:C535311" MONDO:0009787 "GARD:0005663" +MONDO:0009787 "ICD10CM:E71.1" MONDO:0042491 "NCIT:C7346" MONDO:0042491 "MESH:D065310" MONDO:0009963 "SCTID:719840003" @@ -53452,7 +52165,7 @@ MONDO:0009963 "OMIM:266910" MONDO:0009963 "GARD:0005394" MONDO:0009963 "Orphanet:3404" MONDO:0009963 "MESH:C537754" -MONDO:0009963 "ICD10:Q87.8" +MONDO:0009963 "ICD10CM:Q87.8" MONDO:0009963 "UMLS:C1849438" MONDO:0011817 "UMLS:C1846418" MONDO:0011817 "OMIM:607339" @@ -53464,38 +52177,39 @@ MONDO:0010752 "OMIM:314390" MONDO:0010752 "DOID:0111766" MONDO:0010752 "GARD:0008498" MONDO:0022173 "MESH:C538297" +MONDO:0022173 "Orphanet:262923" +MONDO:0022173 "GARD:0001923" MONDO:0006082 "UMLS:C1412036" MONDO:0006082 "SCTID:255084004" MONDO:0006082 "EFO:1000081" MONDO:0006082 "ONCOTREE:ANSC" MONDO:0006082 "DOID:5525" MONDO:0006082 "NCIT:C9161" +MONDO:0015407 "ICD10CM:Q28.2" MONDO:0015407 "Orphanet:141199" MONDO:0015407 "UMLS:CN199502" MONDO:0015407 "SCTID:703268008" MONDO:0015407 "UMLS:C3838691" -MONDO:0015407 "ICD10:Q28.2" NCBITaxon:77643 "GC_ID:11" NCBITaxon:77643 "PMID:29205127" NCBITaxon:77643 "PMID:15243089" -MONDO:0002889 "ICD10:C69.6" MONDO:0002889 "ICD9:239.89" MONDO:0002889 "DOID:4143" MONDO:0002889 "EFO:0007408" MONDO:0002889 "SCTID:127003006" MONDO:0002889 "ICD9:190.1" MONDO:0002889 "NCIT:C3562" +MONDO:0010123 "ICD10CM:D82.8" MONDO:0010123 "OMIM:274190" MONDO:0010123 "UMLS:C1848818" MONDO:0010123 "MESH:C564770" -MONDO:0010123 "ICD10:D82.8" MONDO:0010123 "Orphanet:2951" MONDO:0011681 "UMLS:C1847843" MONDO:0011681 "MESH:C564698" MONDO:0011681 "Orphanet:79136" -MONDO:0011681 "ICD10:G11.8" MONDO:0011681 "DOID:0050992" MONDO:0011681 "SCTID:718754008" +MONDO:0011681 "ICD10CM:G11.8" MONDO:0011681 "OMIM:606552" MONDO:0011334 "Orphanet:69085" MONDO:0011334 "SCTID:721972001" @@ -53507,13 +52221,12 @@ MONDO:0044696 "Orphanet:500144" MONDO:0044696 "UMLS:CN474476" MONDO:0044696 "OMIM:617669" MONDO:0004709 "DOID:910" -MONDO:0004709 "ICD10:C71.4" MONDO:0004709 "ICD9:191.4" MONDO:0004709 "NCIT:C5574" MONDO:0004709 "SCTID:126957005" MONDO:0004709 "UMLS:C1263889" MONDO:0004709 "UMLS:C0153638" -MONDO:0011748 "ICD10:H35.5" +MONDO:0004709 "ICD10CM:C71.4" MONDO:0011748 "OMIM:606943" MONDO:0011748 "UMLS:C1847089" MONDO:0011748 "Orphanet:886" @@ -53522,9 +52235,9 @@ MONDO:0011748 "MESH:C564643" MONDO:0011748 "DOID:0110834" MONDO:0016848 "SCTID:722020006" MONDO:0016848 "Orphanet:26137" +MONDO:0016848 "ICD10CM:L95.8" MONDO:0016848 "GARD:0003068" MONDO:0016848 "UMLS:C0751547" -MONDO:0016848 "ICD10:L95.8" CL:0002657 "FMA:86548" NCBITaxon:116704 "GC_ID:1" MONDO:0043294 "NCIT:C116780" @@ -53535,8 +52248,8 @@ MONDO:0009208 "GARD:0002228" MONDO:0009208 "OMIM:227320" MONDO:0009208 "UMLS:C2931184" MONDO:0015806 "UMLS:C4289991" -MONDO:0015806 "ICD10:A05.1" MONDO:0015806 "Orphanet:178487" +MONDO:0015806 "ICD10CM:A05.1" MONDO:0015806 "NCIT:C128344" MONDO:0100349 "OMIM:216360" MONDO:0100349 "OMIM:619111" @@ -53546,62 +52259,62 @@ MONDO:0019149 "OMIM:278000" MONDO:0019149 "GARD:0012099" MONDO:0019149 "UMLS:C0008384" MONDO:0019149 "Orphanet:75234" -MONDO:0019149 "ICD10:E75.5" MONDO:0019149 "SCTID:57218003" +MONDO:0019149 "ICD10CM:E75.5" MONDO:0019149 "DOID:14502" MONDO:0017062 "SCTID:58557008" -MONDO:0017062 "ICD10:Q05.3" -MONDO:0017062 "ICD10:Q05.9" -MONDO:0017062 "ICD10:Q05.1" -MONDO:0017062 "ICD10:Q05.8" -MONDO:0017062 "ICD10:Q05.5" -MONDO:0017062 "ICD10:Q05.2" +MONDO:0017062 "ICD10CM:Q05.4" +MONDO:0017062 "ICD10CM:Q05.8" +MONDO:0017062 "ICD10CM:Q05.6" MONDO:0017062 "Orphanet:268369" -MONDO:0017062 "ICD10:Q05.0" -MONDO:0017062 "ICD10:Q05.4" -MONDO:0017062 "ICD10:Q05.6" -MONDO:0017062 "ICD10:Q05.7" +MONDO:0017062 "ICD10CM:Q05.5" +MONDO:0017062 "ICD10CM:Q05.9" +MONDO:0017062 "ICD10CM:Q05.0" +MONDO:0017062 "ICD10CM:Q05.7" +MONDO:0017062 "ICD10CM:Q05.2" +MONDO:0017062 "ICD10CM:Q05.1" +MONDO:0017062 "ICD10CM:Q05.3" MONDO:0017062 "UMLS:CN202421" +MONDO:0017452 "ICD10CM:Q72.8" MONDO:0017452 "ICD9:755.66" MONDO:0017452 "Orphanet:294998" MONDO:0017452 "SCTID:205346006" -MONDO:0017452 "ICD10:Q72.8" -MONDO:0018535 "ICD10:C22.1" MONDO:0018535 "Orphanet:424982" MONDO:0018535 "UMLS:C2064409" +MONDO:0018535 "ICD10CM:C22.1" MONDO:0006019 "ICD9:102.7" MONDO:0006019 "DOID:10371" -MONDO:0006019 "ICD10:A66.9" MONDO:0006019 "NCIT:C41353" MONDO:0006019 "ICD9:102.9" MONDO:0006019 "SCTID:70647001" MONDO:0006019 "ICD9:102" MONDO:0006019 "UMLS:C0043388" MONDO:0006019 "MESH:D015001" +MONDO:0006019 "ICD10CM:A66" MONDO:0006019 "EFO:0007548" -MONDO:0006019 "ICD10:A66" MONDO:0006019 "GARD:0007913" MONDO:0003376 "NCIT:C6619" MONDO:0003376 "DOID:5292" MONDO:0003376 "UMLS:C1334660" MONDO:0010930 "OMIM:600776" -MONDO:0010930 "ICD10:Q87.8" MONDO:0010930 "MESH:C537767" MONDO:0010930 "GARD:0000719" MONDO:0010930 "UMLS:C1833339" MONDO:0010930 "Orphanet:1104" MONDO:0010930 "SCTID:720496006" +MONDO:0010930 "ICD10CM:Q87.8" MONDO:0007132 "GARD:0000708" MONDO:0007132 "MESH:C566277" MONDO:0007132 "UMLS:C1862843" MONDO:0007132 "OMIM:106900" +MONDO:0013058 "ICD10CM:E75.2" MONDO:0013058 "Orphanet:85136" MONDO:0013058 "OMIM:612951" MONDO:0013058 "UMLS:C2751843" MONDO:0013058 "MESH:C567845" MONDO:0013058 "GARD:0013199" MONDO:0013058 "SCTID:720825005" -MONDO:0013058 "ICD10:E75.2" +MONDO:0027416 "OMIM:601251" MONDO:0027416 "GARD:0010117" MONDO:0014509 "OMIM:616152" MONDO:0014509 "Orphanet:99000" @@ -53612,7 +52325,7 @@ MONDO:0019567 "UMLS:C0268335" MONDO:0019567 "SCTID:83470009" MONDO:0019567 "NCIT:C125696" MONDO:0019567 "OMIM:130000" -MONDO:0019567 "ICD10:Q79.6" +MONDO:0019567 "ICD10CM:Q79.6" MONDO:0019567 "Orphanet:90309" MONDO:0019567 "MESH:C536194" MONDO:0019567 "DOID:14720" @@ -53620,7 +52333,8 @@ MONDO:0009074 "UMLS:C1857352" MONDO:0009074 "MESH:C535985" MONDO:0009074 "OMIM:220219" MONDO:0009074 "Orphanet:1970" -MONDO:0009074 "ICD10:Q87.8" +MONDO:0009074 "ICD10CM:Q87.8" +MONDO:0018893 "ICD10CM:Q27.3" MONDO:0018893 "ICD9:239.2" MONDO:0018893 "UMLS:C0346068" MONDO:0018893 "Orphanet:53721" @@ -53628,7 +52342,6 @@ MONDO:0018893 "NCIT:C4485" MONDO:0018893 "MedDRA:10068841" MONDO:0018893 "SCTID:254774003" MONDO:0018893 "GARD:0011892" -MONDO:0018893 "ICD10:Q27.3" MONDO:0014898 "OMIM:617069" MONDO:0014898 "DOID:0111523" MONDO:0014898 "UMLS:C4310734" @@ -53648,11 +52361,10 @@ MONDO:0005350 "SCTID:233985008" MONDO:0005350 "OMIM:609782" MONDO:0005350 "NCIT:C27000" MONDO:0015291 "UMLS:C1318020" +MONDO:0015291 "ICD10CM:H16.3" MONDO:0015291 "Orphanet:137599" -MONDO:0015291 "ICD10:H16.3" MONDO:0019882 "Orphanet:96100" MONDO:0019882 "SCTID:763277009" -MONDO:0019882 "ICD10:Q92.3" MONDO:0018901 "OMIM:601493" MONDO:0018901 "OMIM:611878" MONDO:0018901 "UMLS:C4021133" @@ -53661,12 +52373,12 @@ MONDO:0018901 "OMIM:615373" MONDO:0018901 "OMIM:613426" MONDO:0018901 "OMIMPS:604169" MONDO:0018901 "OMIM:615092" -MONDO:0018901 "ICD10:I42.8" MONDO:0018901 "NCIT:C99544" MONDO:0018901 "OMIM:615396" MONDO:0018901 "Orphanet:54260" MONDO:0018901 "OMIM:613424" MONDO:0018901 "UMLS:C1960469" +MONDO:0018901 "ICD10CM:I42.8" MONDO:0018901 "OMIM:601494" MONDO:0018901 "GARD:0010985" MONDO:0018901 "DOID:0060480" @@ -53674,7 +52386,7 @@ MONDO:0018901 "OMIM:604169" MONDO:0009261 "OMIM:230600" MONDO:0009261 "DOID:0080501" MONDO:0009261 "Orphanet:79256" -MONDO:0009261 "ICD10:E75.1" +MONDO:0009261 "ICD10CM:E75.1" MONDO:0009261 "Orphanet:354" MONDO:0009261 "GARD:0010126" MONDO:0009261 "SCTID:18756002" @@ -53684,15 +52396,14 @@ MONDO:0012328 "OMIM:609649" MONDO:0012328 "UMLS:C1864801" MONDO:0007639 "DOID:11105" MONDO:0007639 "SCTID:68222009" -MONDO:0007639 "ICD10:H35.5" -MONDO:0007639 "ICD10:H35.52" +MONDO:0007639 "ICD10CM:H35.5" MONDO:0007639 "OMIM:136880" MONDO:0007639 "MESH:C562733" MONDO:0007639 "Orphanet:52427" MONDO:0007639 "ICD9:362.74" MONDO:0007639 "ICD9:362.76" MONDO:0007639 "Orphanet:227796" -MONDO:0011113 "ICD10:G60.0" +MONDO:0011113 "ICD10CM:G60.0" MONDO:0011113 "NCIT:C129864" MONDO:0011113 "DOID:0110183" MONDO:0011113 "GARD:0009201" @@ -53705,13 +52416,12 @@ MONDO:0006752 "EFO:1000928" MONDO:0006752 "MESH:D004887" MONDO:0008878 "SCTID:732249002" MONDO:0008878 "GARD:0000922" -MONDO:0008878 "ICD10:Q77.8" MONDO:0008878 "OMIM:211120" +MONDO:0008878 "ICD10CM:Q77.8" MONDO:0008878 "UMLS:C1859407" MONDO:0008878 "Orphanet:1842" MONDO:0008878 "MESH:C565896" MONDO:0005647 "SCTID:266113007" -MONDO:0005647 "ICD10:A63.0" MONDO:0005647 "MESH:D003218" MONDO:0005647 "EFO:0007147" MONDO:0005647 "NCIT:C4820" @@ -53729,7 +52439,6 @@ MONDO:0012738 "OMIM:611820" MONDO:0012738 "MESH:C567513" MONDO:0012738 "GARD:0010437" MONDO:0012738 "Orphanet:768" -MONDO:0012738 "ICD10:I45.8" MONDO:0012738 "UMLS:C2678483" MONDO:0012738 "DOID:0110652" MONDO:0002340 "NCIT:C4687" @@ -53746,7 +52455,7 @@ MONDO:0012515 "UMLS:C1864653" MONDO:0007826 "OMIM:147400" MONDO:0032819 "OMIM:618573" MONDO:0015409 "SCTID:763317002" -MONDO:0015409 "ICD10:Q67.4" +MONDO:0015409 "ICD10CM:Q67.4" MONDO:0015409 "Orphanet:141214" MONDO:0043073 "UMLS:C2931298" MONDO:0043073 "MESH:C536721" @@ -53769,8 +52478,8 @@ MONDO:0006290 "UMLS:C4048549" MONDO:0006290 "SCTID:145831000119103" MONDO:0006290 "NCIT:C4925" MONDO:0018138 "DOID:0090100" -MONDO:0018138 "ICD10:E70.3" MONDO:0018138 "UMLS:C1863198" +MONDO:0018138 "ICD10CM:E70.3" MONDO:0018138 "Orphanet:352740" MONDO:0018138 "OMIM:103470" MONDO:0008249 "SCTID:47639008" @@ -53785,24 +52494,24 @@ NCBITaxon:713 "PMID:1736960" NCBITaxon:713 "PMID:15143001" NCBITaxon:713 "GC_ID:11" MONDO:0022666 "GARD:0010442" -MONDO:0010557 "ICD10:H31.21" -MONDO:0010557 "ICD10:H31.2" MONDO:0010557 "DOID:9821" MONDO:0010557 "Orphanet:180" MONDO:0010557 "OMIM:303100" +MONDO:0010557 "ICD10CM:H31.21" MONDO:0010557 "ICD9:363.55" MONDO:0010557 "SCTID:75241009" MONDO:0010557 "UMLS:C0008525" MONDO:0010557 "MedDRA:10008791" MONDO:0010557 "NCIT:C34469" MONDO:0010557 "GARD:0006061" +MONDO:0010557 "ICD10CM:H31.2" MONDO:0010557 "MESH:D015794" MONDO:0005868 "UMLS:C0002890" MONDO:0005868 "ICD9:285.8" MONDO:0005868 "MESH:D000750" MONDO:0005868 "DOID:2354" +MONDO:0005868 "ICD10CM:D61.82" MONDO:0005868 "SCTID:2694001" -MONDO:0005868 "ICD10:D61.82" MONDO:0005868 "NCIT:C36218" MONDO:0005868 "EFO:0007388" MONDO:0014373 "UMLS:C4014507" @@ -53810,30 +52519,26 @@ MONDO:0014373 "Orphanet:69061" MONDO:0014373 "OMIM:615861" MONDO:0014373 "DOID:0080386" MONDO:0014373 "Orphanet:656" -MONDO:0003781 "NCIT:C26722" MONDO:0003781 "ICD9:491" +MONDO:0003781 "UMLS:C0008677" +MONDO:0003781 "EFO:0009661" +MONDO:0003781 "DOID:6132" MONDO:0003781 "ICD9:466.0" -MONDO:0003781 "NCIT:C2911" -MONDO:0003781 "ICD10:J42" +MONDO:0003781 "MESH:D001991" +MONDO:0003781 "NCIT:C26722" MONDO:0003781 "ICD9:490" -MONDO:0003781 "DOID:6132" MONDO:0003781 "ICD9:491.9" -MONDO:0003781 "ICD10:J20.9" -MONDO:0003781 "MESH:D001991" -MONDO:0003781 "UMLS:C0006277" -MONDO:0003781 "UMLS:C0008677" -MONDO:0003781 "ICD10:J20" -MONDO:0003781 "EFO:0009661" -MONDO:0003781 "ICD10:J40" -MONDO:0003781 "CSP:2596-1500" MONDO:0003781 "SCTID:32398004" -MONDO:0010733 "UMLS:C1839264" +MONDO:0003781 "CSP:2596-1500" +MONDO:0003781 "NCIT:C2911" +MONDO:0003781 "UMLS:C0006277" MONDO:0010733 "DOID:0110773" -MONDO:0010733 "SCTID:723622007" -MONDO:0010733 "GARD:0004923" -MONDO:0010733 "ICD10:G11.4" MONDO:0010733 "OMIM:312920" MONDO:0010733 "Orphanet:99015" +MONDO:0010733 "UMLS:C1839264" +MONDO:0010733 "ICD10CM:G11.4" +MONDO:0010733 "SCTID:723622007" +MONDO:0010733 "GARD:0004923" MONDO:0003610 "NCIT:C40019" MONDO:0003610 "UMLS:C1514907" MONDO:0003610 "DOID:5725" @@ -53845,13 +52550,13 @@ HP:0100314 "UMLS:C4022149" MONDO:0007692 "MESH:C562484" MONDO:0007692 "OMIM:139500" MONDO:0007692 "SCTID:89000008" -MONDO:0004161 "UMLS:C1519852" -MONDO:0004161 "DOID:7241" -MONDO:0004161 "NCIT:C40165" +MONDO:0016356 "ICD10CM:M34.0" MONDO:0016356 "NCIT:C116791" MONDO:0016356 "GARD:0009751" -MONDO:0016356 "ICD10:M34.0" MONDO:0016356 "Orphanet:220393" +MONDO:0004161 "UMLS:C1519852" +MONDO:0004161 "DOID:7241" +MONDO:0004161 "NCIT:C40165" MONDO:0015102 "Orphanet:101106" MONDO:0020590 "NCIT:C26831" MONDO:0020590 "SCTID:88415009" @@ -53859,8 +52564,8 @@ MONDO:0020590 "MESH:D009164" MONDO:0020590 "UMLS:C0026918" MONDO:0011998 "OMIM:608236" MONDO:0011998 "SCTID:764854006" -MONDO:0011998 "ICD10:G60.0" MONDO:0011998 "MESH:C564269" +MONDO:0011998 "ICD10CM:G60.0" MONDO:0011998 "UMLS:C1842357" MONDO:0011998 "Orphanet:140481" NCBITaxon:480418 "PMID:25831531" @@ -53868,7 +52573,7 @@ NCBITaxon:480418 "PMID:19019760" NCBITaxon:480418 "GC_ID:11" MONDO:0024361 "SCTID:3745000" MONDO:0024361 "ICD9:327.30" -MONDO:0024361 "ICD10:G47.2" +MONDO:0024361 "ICD10CM:G47.2" MONDO:0024361 "NCIT:C95071" MONDO:0010932 "GARD:0010123" MONDO:0010932 "UMLS:C1833321" @@ -53876,6 +52581,7 @@ MONDO:0010932 "OMIM:600790" MONDO:0010932 "SCTID:719266007" MONDO:0010932 "Orphanet:75373" MONDO:0010932 "MESH:C535356" +MONDO:0016543 "ICD10CM:E70.1" MONDO:0016543 "OMIM:261640" MONDO:0016543 "SCTID:68528007" MONDO:0016543 "OMIM:261630" @@ -53884,7 +52590,6 @@ MONDO:0016543 "Orphanet:238583" MONDO:0016543 "OMIM:264070" MONDO:0016543 "GARD:0007751" MONDO:0016543 "UMLS:C0751435" -MONDO:0016543 "ICD10:E70.1" MONDO:0012107 "MESH:C563870" MONDO:0012107 "OMIM:608720" MONDO:0012107 "UMLS:C1837492" @@ -53896,45 +52601,43 @@ MONDO:0013318 "UMLS:C3150852" MONDO:0010063 "UMLS:C1849087" MONDO:0010063 "OMIM:271310" MONDO:0010063 "MESH:C535472" -MONDO:0010063 "ICD10:G11.1" MONDO:0010063 "SCTID:720750004" +MONDO:0010063 "ICD10CM:G11.1" MONDO:0010063 "Orphanet:3177" MONDO:0010063 "GARD:0001525" MONDO:0001197 "ICD9:287.1" MONDO:0001197 "DOID:11125" -MONDO:0001197 "ICD10:D69.1" MONDO:0001197 "UMLS:C0235604" MONDO:0001197 "SCTID:267532001" MONDO:0010149 "SCTID:237934001" MONDO:0010149 "NCIT:C142806" +MONDO:0010149 "ICD10CM:D51.2" MONDO:0010149 "Orphanet:859" MONDO:0010149 "GARD:0012338" -MONDO:0010149 "ICD10:D51.2" MONDO:0010149 "UMLS:C0342701" MONDO:0010149 "OMIM:275350" MONDO:0010149 "DOID:0050818" MONDO:0012263 "OMIM:609400" +MONDO:0019732 "ICD10CM:E85.0" MONDO:0019732 "UMLS:CN206639" -MONDO:0019732 "ICD10:E85.0" MONDO:0019732 "Orphanet:93561" MONDO:0020214 "UMLS:CN227822" MONDO:0020214 "Orphanet:98627" MONDO:0020214 "SCTID:35091000119101" MONDO:0020214 "ICD9:371.58" -MONDO:0020214 "ICD10:H18.5" MONDO:0020214 "UMLS:C2063478" +MONDO:0020214 "ICD10CM:H18.5" MONDO:0014759 "UMLS:C4225220" MONDO:0014759 "OMIM:616739" MONDO:0008822 "OMIM:208085" MONDO:0008822 "Orphanet:2697" MONDO:0008822 "DOID:0111353" -PO:0009002 "GO:0005623" -PO:0009002 "PO_GIT:56" MONDO:0004573 "DOID:8454" MONDO:0004573 "SCTID:20307000" MONDO:0004573 "ICD9:266.0" MONDO:0004573 "OMIM:615026" -MONDO:0004573 "ICD10:E53.0" +PO:0009002 "GO:0005623" +PO:0009002 "PO_GIT:56" NCBITaxon:234 "PMID:8573514" NCBITaxon:234 "PMID:28066370" NCBITaxon:234 "GC_ID:11" @@ -53946,20 +52649,19 @@ MONDO:0001034 "ICD9:370.01" MONDO:0001034 "DOID:10441" MONDO:0001034 "SCTID:47398006" MONDO:0001034 "UMLS:C0155067" -MONDO:0001034 "ICD10:H16.04" -MONDO:0020182 "UMLS:CN207042" -MONDO:0020182 "Orphanet:98592" -MONDO:0009239 "ICD10:E23.6" MONDO:0009239 "Orphanet:52901" MONDO:0009239 "GARD:0010128" MONDO:0009239 "MESH:C537070" MONDO:0009239 "OMIM:229070" MONDO:0009239 "SCTID:758664007" +MONDO:0009239 "ICD10CM:E23.6" MONDO:0009239 "DOID:0090088" MONDO:0009239 "UMLS:C1856716" MONDO:0004410 "NCIT:C6984" MONDO:0004410 "UMLS:C1335923" MONDO:0004410 "DOID:7958" +MONDO:0020182 "UMLS:CN207042" +MONDO:0020182 "Orphanet:98592" HP:0010762 "SNOMEDCT_US:50007008" HP:0010762 "UMLS:C0008487" HP:0010762 "MSH:D002817" @@ -53970,24 +52672,23 @@ MONDO:0023699 "OMIM:101200" MONDO:0023699 "MESH:C536023" MONDO:0010336 "DOID:0060378" MONDO:0010336 "OMIM:300484" -MONDO:0010336 "ICD10:Q87.0" MONDO:0010336 "SCTID:722106001" MONDO:0010336 "GARD:0004060" MONDO:0010336 "Orphanet:2755" MONDO:0010336 "MESH:C557820" +MONDO:0010336 "ICD10CM:Q87.0" NCBITaxon:173087 "GC_ID:1" +MONDO:0020401 "ICD10CM:Q23.3" MONDO:0020401 "Orphanet:99060" -MONDO:0020401 "ICD10:Q23.3" MONDO:0034109 "OMIM:618414" MONDO:0034109 "Orphanet:544602" MONDO:0017088 "Orphanet:268868" -MONDO:0017088 "ICD10:Q06.0" MONDO:0018034 "UMLS:C0432365" MONDO:0018034 "ICD9:759.89" MONDO:0018034 "SCTID:36193003" MONDO:0018034 "NCIT:C99082" -MONDO:0018034 "ICD10:Q86.8" MONDO:0018034 "GARD:0002313" +MONDO:0018034 "ICD10CM:Q86.8" MONDO:0018034 "Orphanet:3312" MONDO:0018034 "MedDRA:10071249" MONDO:0005155 "UMLS:C0023890" @@ -53997,7 +52698,6 @@ MONDO:0005155 "MESH:D008103" MONDO:0005155 "OMIM:215600" MONDO:0005155 "SCTID:19943007" MONDO:0005155 "EFO:0001422" -MONDO:0005155 "ICD10:K74.60" MONDO:0005155 "DOID:5082" MONDO:0007124 "Orphanet:1071" MONDO:0007124 "OMIM:106260" @@ -54006,12 +52706,13 @@ MONDO:0007124 "SCTID:55821006" MONDO:0007124 "DOID:0090119" MONDO:0007124 "MESH:C535289" MONDO:0007124 "GARD:0004805" -MONDO:0007124 "ICD10:Q82.4" +MONDO:0007124 "ICD10CM:Q82.4" MONDO:0007124 "GARD:0006571" MONDO:0004738 "SCTID:44176004" MONDO:0004738 "UMLS:C0268512" MONDO:0005812 "EFO:0007411" MONDO:0005812 "EFO:0007328" +MONDO:0005812 "ICD10CM:J09-J18" MONDO:0005812 "NCIT:C53482" MONDO:0005812 "SCTID:61700007" MONDO:0005812 "ICD9:487" @@ -54019,33 +52720,32 @@ MONDO:0005812 "ICD9:487.8" MONDO:0005812 "MESH:D007251" MONDO:0005812 "MESH:D009976" MONDO:0005812 "DOID:8469" -MONDO:0005812 "ICD10:J11.1" MONDO:0000489 "DOID:0050850" MONDO:0027353 "DOID:0070021" MONDO:0027353 "OMIM:613989" MONDO:0017346 "UMLS:C2700007" MONDO:0017346 "Orphanet:289661" -MONDO:0017346 "ICD10:C83.3" MONDO:0017346 "ICDO:9680/3" MONDO:0017346 "SCTID:716788007" +MONDO:0017346 "ICD10CM:C83.3" MONDO:0017346 "NCIT:C80281" MONDO:0008531 "OMIM:187030" MONDO:0012194 "OMIM:609122" MONDO:0012194 "Orphanet:231160" MONDO:0012194 "UMLS:C1836757" MONDO:0012194 "MESH:C563792" +MONDO:0011777 "ICD10CM:G30" MONDO:0011777 "DOID:0110041" -MONDO:0011777 "ICD10:G30" MONDO:0011777 "OMIM:607116" MONDO:0011777 "UMLS:C1846735" MONDO:0011777 "MESH:C564622" HP:0002686 "UMLS:C4025690" -MONDO:0001431 "ICD10:H46.2" MONDO:0001431 "UMLS:C0155302" MONDO:0001431 "SCTID:82108004" MONDO:0001431 "DOID:1209" +MONDO:0001431 "ICD10CM:H46.2" MONDO:0001431 "ICD9:377.33" -MONDO:0007334 "ICD10:Q87.2" +MONDO:0007334 "ICD10CM:Q87.2" MONDO:0007334 "Orphanet:1300" MONDO:0007334 "UMLS:CN199177" MONDO:0007334 "OMIM:119500" @@ -54062,8 +52762,8 @@ MONDO:0010559 "Orphanet:2466" MONDO:0010559 "OMIM:303350" MONDO:0010559 "SCTID:716996008" MONDO:0010559 "DOID:0060246" +MONDO:0010559 "ICD10CM:G11.4" MONDO:0010559 "UMLS:C0795953" -MONDO:0010559 "ICD10:G11.4" MONDO:0010559 "NCIT:C129930" MONDO:0010559 "Orphanet:275543" MONDO:0017275 "MESH:C537797" @@ -54105,11 +52805,11 @@ MONDO:0002833 "NCIT:C40104" MONDO:0002833 "UMLS:C1517128" MONDO:0012381 "DOID:0070220" MONDO:0012381 "SCTID:721235003" -MONDO:0012381 "ICD10:E16.1" MONDO:0012381 "UMLS:C1864952" MONDO:0012381 "MESH:C566494" MONDO:0012381 "OMIM:609968" MONDO:0012381 "Orphanet:263458" +MONDO:0012381 "ICD10CM:E16.1" MONDO:0044336 "UMLS:C1707440" MONDO:0044336 "NCIT:C43586" MONDO:0021069 "ICD9:194.9" @@ -54118,7 +52818,7 @@ MONDO:0021069 "DOID:170" MONDO:0021069 "NCIT:C3575" MONDO:0021069 "SCTID:387922007" MONDO:0021069 "MESH:D004701" -MONDO:0021069 "ICD10:C75.9" +MONDO:0021069 "ICD10CM:C73-C75" MONDO:0001706 "UMLS:C0398676" MONDO:0001706 "SCTID:111936002" MONDO:0001706 "NCIT:C35441" @@ -54132,8 +52832,8 @@ MONDO:0033369 "OMIM:617929" MONDO:0033369 "DOID:0080432" MONDO:0016135 "Orphanet:207025" MONDO:0016135 "UMLS:CN200899" -MONDO:0019335 "ICD10:E70.1" MONDO:0019335 "Orphanet:79651" +MONDO:0019335 "ICD10CM:E70.1" MONDO:0002187 "MESH:D014845" MONDO:0002187 "UMLS:C0042994" MONDO:0002187 "NCIT:C27631" @@ -54142,33 +52842,33 @@ MONDO:0002187 "SCTID:5089007" MONDO:0019511 "UMLS:CN206322" MONDO:0019511 "Orphanet:88950" MONDO:0019511 "GARD:0010679" -MONDO:0019511 "ICD10:Q61.5" +MONDO:0019511 "ICD10CM:Q61.5" MONDO:0014538 "Orphanet:45358" MONDO:0014538 "OMIM:616219" MONDO:0014538 "UMLS:C4015552" MONDO:0001821 "SCTID:270903007" MONDO:0001821 "DOID:13868" MONDO:0001821 "NCIT:C94337" -MONDO:0001821 "ICD10:F52.0" MONDO:0001821 "ICD9:302.71" +MONDO:0001821 "ICD10CM:F52.0" MONDO:0004005 "UMLS:C1514905" MONDO:0004005 "DOID:6837" MONDO:0004005 "NCIT:C40018" -MONDO:0005563 "ICD10:C80.9" MONDO:0005563 "Wikipedia:NUT_midline_carcinoma" MONDO:0005563 "UMLS:CN237663" MONDO:0005563 "ONCOTREE:NMCHN" MONDO:0005563 "NCIT:C45716" MONDO:0005563 "DOID:0060463" MONDO:0005563 "EFO:0005783" +MONDO:0005563 "ICD10CM:C80.9" MONDO:0005563 "UMLS:C1707291" MONDO:0005563 "Orphanet:443167" MONDO:0007763 "Orphanet:422526" -MONDO:0007763 "ICD10:C64" MONDO:0007763 "DOID:0050387" MONDO:0007763 "Orphanet:319276" MONDO:0007763 "OMIM:144700" -MONDO:0019921 "ICD10:Q99.8" +MONDO:0007763 "ICD10CM:C64" +MONDO:0019921 "ICD10CM:Q99.8" MONDO:0019921 "Orphanet:96191" MONDO:0018724 "Orphanet:459070" MONDO:0018724 "UMLS:CN242161" @@ -54181,24 +52881,24 @@ MONDO:0004213 "UMLS:C1520092" MONDO:0004213 "NCIT:C40285" MONDO:0004213 "DOID:7409" MONDO:0008917 "MESH:C535850" +MONDO:0008917 "ICD10CM:Q87.2" MONDO:0008917 "Orphanet:1354" MONDO:0008917 "GARD:0002613" MONDO:0008917 "SCTID:721009008" MONDO:0008917 "OMIM:212135" MONDO:0008917 "UMLS:C1859327" -MONDO:0008917 "ICD10:Q87.2" MONDO:0014210 "Orphanet:356996" MONDO:0014210 "UMLS:C3809672" -MONDO:0014210 "ICD10:G93.8" MONDO:0014210 "OMIM:615493" +MONDO:0014210 "ICD10CM:G93.8" MONDO:0013830 "UMLS:C3553302" MONDO:0013830 "OMIM:614622" -MONDO:0005446 "ICD10:B55.1" MONDO:0005446 "MESH:D016773" MONDO:0005446 "ICD9:085.2" MONDO:0005446 "EFO:0005046" MONDO:0005446 "UMLS:C0023283" MONDO:0005446 "SCTID:186807008" +MONDO:0005446 "ICD10CM:B55.1" MONDO:0005446 "DOID:9111" MONDO:0005446 "NCIT:C34770" MONDO:0003773 "DOID:6113" @@ -54220,7 +52920,6 @@ MONDO:0006802 "NCIT:C3988" MONDO:0006802 "MedDRA:10042818" MONDO:0006802 "UMLS:C0021141" MONDO:0006802 "SCTID:55004003" -MONDO:0006802 "ICD10:E22.2" MONDO:0006802 "Orphanet:83449" MONDO:0006802 "EFO:1000982" NCBITaxon:11588 "GC_ID:1" @@ -54233,35 +52932,35 @@ MONDO:0019180 "OMIM:601101" MONDO:0019180 "OMIMPS:187300" MONDO:0019180 "MESH:D013683" MONDO:0019180 "NCIT:C35064" +MONDO:0019180 "ICD10CM:I78.0" MONDO:0019180 "OMIM:187300" MONDO:0019180 "Orphanet:774" MONDO:0019180 "UMLS:C0039445" MONDO:0019180 "SCTID:21877004" -MONDO:0019180 "ICD10:I78.0" MONDO:0019180 "MedDRA:10019883" MONDO:0019180 "OMIM:615506" NCBITaxon:1980459 "GC_ID:1" MONDO:0013184 "MESH:C567703" -MONDO:0013184 "ICD10:P78.3" MONDO:0013184 "Orphanet:92050" MONDO:0013184 "DOID:0060776" MONDO:0013184 "UMLS:C2750737" MONDO:0013184 "GARD:0010630" +MONDO:0013184 "ICD10CM:P78.3" MONDO:0013184 "SCTID:715669000" MONDO:0013184 "UMLS:C4275062" MONDO:0013184 "OMIM:613217" HP:0002118 "UMLS:C4025724" -MONDO:0019158 "ICD10:I42.3" MONDO:0019158 "SCTID:715626008" MONDO:0019158 "UMLS:CN205710" MONDO:0019158 "Orphanet:75565" MONDO:0019158 "UMLS:C2882252" +MONDO:0019158 "ICD10CM:I42.3" MONDO:0044737 "Orphanet:506353" MONDO:0010338 "MESH:C564506" MONDO:0010338 "UMLS:C1845359" MONDO:0010338 "SCTID:766764008" +MONDO:0010338 "ICD10CM:G12.2" MONDO:0010338 "Orphanet:139557" -MONDO:0010338 "ICD10:G12.2" MONDO:0010338 "DOID:0111196" MONDO:0010338 "OMIM:300489" MONDO:0006199 "EFO:1000242" @@ -54279,13 +52978,8 @@ MONDO:0007586 "OMIM:133701" MONDO:0007586 "NCIT:C18252" MONDO:0007586 "Orphanet:321" MONDO:0007586 "GARD:0002205" -MONDO:0018527 "ICD10:C25.7" -MONDO:0018527 "ICD10:C25.0" MONDO:0018527 "Orphanet:424080" -MONDO:0018527 "ICD10:C25.2" MONDO:0018527 "UMLS:CN237530" -MONDO:0018527 "ICD10:C25.8" -MONDO:0018527 "ICD10:C25.1" CL:0000160 "http://en.wikipedia.org/wiki/Goblet_cell" CL:0000160 "FMA:13148" CL:0000160 "BTO:0001540" @@ -54296,12 +52990,11 @@ MONDO:0003994 "NCIT:C40268" MONDO:0009404 "MESH:C537632" MONDO:0009404 "SCTID:721836009" MONDO:0009404 "DOID:14670" -MONDO:0009404 "ICD10:Q87.0" MONDO:0009404 "GARD:0000897" MONDO:0009404 "Orphanet:2213" +MONDO:0009404 "ICD10CM:Q87.0" MONDO:0009404 "UMLS:C0220742" MONDO:0009404 "OMIM:239800" -MONDO:0013067 "ICD10:Q12.0" MONDO:0013067 "DOID:0110230" MONDO:0013067 "UMLS:C2751822" MONDO:0013067 "Orphanet:91492" @@ -54309,20 +53002,20 @@ MONDO:0013067 "OMIM:612968" MONDO:0013067 "Orphanet:98993" MONDO:0013067 "MESH:C567835" MONDO:0014013 "Orphanet:411712" -MONDO:0014013 "ICD10:P00.4" +MONDO:0014013 "ICD10CM:P00.4" MONDO:0014013 "OMIM:615026" MONDO:0010501 "Orphanet:466791" MONDO:0010501 "DOID:0060817" MONDO:0010501 "OMIM:300967" -MONDO:0015096 "ICD10:D68.2" MONDO:0015096 "Orphanet:101041" MONDO:0015096 "UMLS:CN197419" MONDO:0015096 "OMIM:202400" MONDO:0015096 "GARD:0002887" +MONDO:0015096 "ICD10CM:D68.2" MONDO:0100380 "NCIT:C36365" +MONDO:0008134 "ICD10CM:H47.2" MONDO:0008134 "UMLS:CN207069" MONDO:0008134 "UMLS:C0338508" -MONDO:0008134 "ICD10:H47.2" MONDO:0008134 "OMIM:610708" MONDO:0008134 "OMIM:165500" MONDO:0008134 "GARD:0009890" @@ -54347,15 +53040,14 @@ MONDO:0005016 "DOID:12785" MONDO:0005016 "OMIM:612624" MONDO:0015813 "Orphanet:178536" MONDO:0015813 "UMLS:C1275321" -MONDO:0015813 "ICD10:C83.0" MONDO:0015813 "NCIT:C7230" MONDO:0015813 "SCTID:404140004" +MONDO:0015813 "ICD10CM:C83.0" MONDO:0004903 "DOID:9858" MONDO:0004903 "SCTID:445741003" MONDO:0004903 "ICD9:370.5" MONDO:0004903 "ICD9:370.59" MONDO:0004903 "UMLS:C2960633" -MONDO:0004903 "ICD10:H16.3" MONDO:0000654 "NCIT:C3377" MONDO:0000654 "SCTID:387837005" MONDO:0000654 "NCIT:C53684" @@ -54369,7 +53061,6 @@ NCBITaxon:171 "PMID:10425768" NCBITaxon:171 "GC_ID:11" NCBITaxon:171 "PMID:1581182" MONDO:0009575 "GARD:0009210" -MONDO:0009575 "ICD10:Q21.0" MONDO:0009575 "Orphanet:49827" MONDO:0009575 "GARD:9210" MONDO:0009575 "OMIM:249270" @@ -54399,10 +53090,10 @@ MONDO:0008073 "OMIM:603860" CL:1000279 "FMA:15653" MONDO:0007998 "MESH:C536540" MONDO:0007998 "Orphanet:2551" +MONDO:0007998 "ICD10CM:Q87.5" MONDO:0007998 "GARD:0005481" MONDO:0007998 "UMLS:C1834880" MONDO:0007998 "OMIM:157151" -MONDO:0007998 "ICD10:Q87.5" HP:0000726 "UMLS:C0497327" HP:0000726 "SNOMEDCT_US:52448006" HP:0000726 "MSH:D003704" @@ -54426,13 +53117,12 @@ MONDO:0016545 "UMLS:CN201627" MONDO:0016545 "GARD:0003232" MONDO:0016545 "Orphanet:2386" MONDO:0008509 "UMLS:C1861401" -MONDO:0008509 "ICD10:Q70.9" MONDO:0008509 "MESH:C566099" MONDO:0008509 "Orphanet:3248" MONDO:0008509 "OMIM:185700" +MONDO:0008509 "ICD10CM:Q70.9" MONDO:0008509 "HP:0100263" -MONDO:0054849 "OMIM:618077" -MONDO:0032828 "OMIM:618598" +MONDO:0007835 "ICD10CM:K56.1" MONDO:0007835 "MESH:D007443" MONDO:0007835 "UMLS:C0021933" MONDO:0007835 "ICD9:560.0" @@ -54440,7 +53130,8 @@ MONDO:0007835 "OMIM:147710" MONDO:0007835 "SCTID:49723003" MONDO:0007835 "DOID:8446" MONDO:0007835 "NCIT:C113484" -MONDO:0007835 "ICD10:K56.1" +MONDO:0054849 "OMIM:618077" +MONDO:0032828 "OMIM:618598" MONDO:0009762 "GARD:0009609" MONDO:0009762 "UMLS:C3151571" MONDO:0009762 "OMIM:257400" @@ -54449,11 +53140,11 @@ MONDO:0012031 "OMIM:608404" MONDO:0012031 "DOID:0111046" MONDO:0012031 "UMLS:C1842090" MONDO:0012031 "MESH:C564245" +MONDO:0018193 "ICD10CM:C62.9" MONDO:0018193 "Orphanet:363483" MONDO:0018193 "EFO:1000573" MONDO:0018193 "HP:0100616" MONDO:0018193 "OMIM:273300" -MONDO:0018193 "ICD10:C62.9" MONDO:0018193 "NCIT:C3877" MONDO:0014703 "OMIM:616589" MONDO:0014703 "UMLS:C4225271" @@ -54462,58 +53153,56 @@ MONDO:0025489 "MESH:D016583" MONDO:0008919 "ICD9:277.82" MONDO:0008919 "OMIM:212140" MONDO:0008919 "GARD:0005104" -MONDO:0008919 "ICD10:E71.3" MONDO:0008919 "DOID:14365" MONDO:0008919 "SCTID:21764004" MONDO:0008919 "ICD9:277.81" -MONDO:0008919 "ICD10:E71.42" MONDO:0008919 "MESH:C536778" +MONDO:0008919 "ICD10CM:E71.3" MONDO:0008919 "Orphanet:158" -MONDO:0008919 "ICD10:E71.41" MONDO:0008919 "NCIT:C98864" MONDO:0008919 "UMLS:C0342788" -MONDO:0025061 "UMLS:C0013605" -MONDO:0025061 "MESH:D004488" MONDO:0002677 "DOID:3517" MONDO:0002677 "UMLS:C1333156" MONDO:0002677 "NCIT:C9429" MONDO:0001423 "DOID:1203" +MONDO:0001423 "ICD10CM:F10-F19" MONDO:0001423 "ICD9:292.8" MONDO:0001423 "ICD9:292.89" +MONDO:0025061 "UMLS:C0013605" +MONDO:0025061 "MESH:D004488" MONDO:0007189 "OMIM:109540" MONDO:0022675 "GARD:0001158" MONDO:0017986 "UMLS:CN237437" MONDO:0017986 "Orphanet:3276" MONDO:0020395 "Orphanet:99054" MONDO:0020395 "MedDRA:10037450" -MONDO:0020395 "ICD10:Q22.1" +MONDO:0020395 "ICD10CM:Q22.1" MONDO:0020395 "ICD9:746.02" +MONDO:0018932 "ICD10CM:I42.8" MONDO:0018932 "UMLS:C4511053" MONDO:0018932 "SCTID:725416005" MONDO:0018932 "Orphanet:57777" -MONDO:0018932 "ICD10:I42.8" +MONDO:0012359 "ICD10CM:D81.8" MONDO:0012359 "SCTID:725290000" MONDO:0012359 "OMIM:609889" MONDO:0012359 "UMLS:C4510944" MONDO:0012359 "MESH:C563691" MONDO:0012359 "UMLS:C1835931" MONDO:0012359 "Orphanet:231154" -MONDO:0012359 "ICD10:D81.8" MONDO:0003426 "NCIT:C4151" MONDO:0003426 "ICDO:8310/0" MONDO:0003426 "DOID:5390" MONDO:0003426 "UMLS:C0334315" MONDO:0030056 "OMIM:618913" MONDO:0015994 "UMLS:CN200619" +MONDO:0015994 "ICD10CM:G71.2" MONDO:0015994 "GARD:0003854" -MONDO:0015994 "ICD10:G71.2" MONDO:0015994 "Orphanet:1877" MONDO:0001529 "ICD9:284.89" MONDO:0001529 "SCTID:127034005" MONDO:0001529 "DOID:12450" MONDO:0001529 "ICD9:284.1" MONDO:0001529 "NCIT:C34889" -MONDO:0001529 "ICD10:D61.81" MONDO:0001529 "UMLS:C0030312" MONDO:0001529 "MESH:D010198" MONDO:0000901 "DOID:0080192" @@ -54521,12 +53210,12 @@ MONDO:0018119 "UMLS:CN227266" MONDO:0018119 "Orphanet:352309" MONDO:0018590 "Orphanet:439246" MONDO:0015416 "Orphanet:141261" -MONDO:0015416 "ICD10:Q18.8" +MONDO:0015416 "ICD10CM:Q18.8" MONDO:0016803 "UMLS:CN227004" MONDO:0016803 "Orphanet:254837" MONDO:0020466 "UMLS:CN776902" +MONDO:0020466 "ICD10CM:Q96.9" MONDO:0020466 "Orphanet:99226" -MONDO:0020466 "ICD10:Q96.9" MONDO:0020466 "UMLS:C0041408" MONDO:0020466 "SCTID:710008008" MONDO:0020466 "NCIT:C36630" @@ -54548,27 +53237,26 @@ MONDO:0003292 "NCIT:C5608" MONDO:0003292 "UMLS:C1332266" MONDO:0016020 "SCTID:253103006" MONDO:0016020 "Orphanet:1931" -MONDO:0016020 "ICD10:Q01.0" +MONDO:0016020 "ICD10CM:Q01.0" MONDO:0010503 "DOID:0110147" MONDO:0010503 "UMLS:C4310820" -MONDO:0010503 "ICD10:E26.8" MONDO:0010503 "OMIM:300971" MONDO:0019537 "DOID:5378" MONDO:0019537 "Orphanet:90039" -MONDO:0019537 "ICD10:D58.2" MONDO:0019537 "UMLS:C0272080" MONDO:0019537 "ICD9:282.7" +MONDO:0019537 "ICD10CM:D58.2" MONDO:0019537 "MedDRA:10055019" MONDO:0019537 "SCTID:66729008" MONDO:0019537 "NCIT:C35344" MONDO:0008627 "NCIT:C7543" MONDO:0008627 "MESH:D014516" -MONDO:0008627 "ICD10:C66" MONDO:0008627 "UMLS:C0153619" MONDO:0008627 "ICD9:189.2" MONDO:0008627 "DOID:11819" MONDO:0008627 "SCTID:363458004" MONDO:0008627 "OMIM:191600" +MONDO:0008627 "ICD10CM:C66" MONDO:0032692 "OMIM:618348" MONDO:0040500 "OMIM:617816" MONDO:0004905 "ICD9:271.3" @@ -54589,9 +53277,9 @@ MONDO:0021013 "OMIM:234050" MONDO:0021013 "ICD9:704.8" MONDO:0016348 "Orphanet:218439" MONDO:0016348 "UMLS:CN201186" -MONDO:0015261 "ICD10:L66.0" MONDO:0015261 "ICD9:704.09" MONDO:0015261 "GARD:0004536" +MONDO:0015261 "ICD10CM:L66.0" MONDO:0015261 "SCTID:238731001" MONDO:0015261 "Orphanet:129" MONDO:0044033 "MESH:D054038" @@ -54600,7 +53288,7 @@ MONDO:0044033 "SCTID:450886002" MONDO:0044033 "EFO:1001804" MONDO:0017461 "Orphanet:295014" MONDO:0017461 "SCTID:763691008" -MONDO:0017461 "ICD10:Q68.1" +MONDO:0017461 "ICD10CM:Q68.1" MONDO:0011944 "OMIM:607967" MONDO:0008783 "SCTID:723579009" MONDO:0008783 "UMLS:C0039292" @@ -54611,7 +53299,7 @@ MONDO:0008783 "NCIT:C85182" MONDO:0008783 "OMIM:205400" MONDO:0008783 "MESH:D013631" MONDO:0008783 "MedDRA:10051875" -MONDO:0008783 "ICD10:E78.6" +MONDO:0008783 "ICD10CM:E78.6" MONDO:0033818 "Orphanet:519410" MONDO:0019724 "Orphanet:93551" MONDO:0019724 "UMLS:CN206631" @@ -54620,8 +53308,8 @@ MONDO:0014412 "OMIM:615947" MONDO:0014412 "DOID:0111420" MONDO:0014412 "Orphanet:535458" MONDO:0015239 "SCTID:68092007" -MONDO:0015239 "ICD10:Q25.7" MONDO:0015239 "Orphanet:1138" +MONDO:0015239 "ICD10CM:Q25.7" MONDO:0002131 "EFO:0007333" MONDO:0002131 "DOID:1862" MONDO:0002131 "MESH:D007573" @@ -54638,7 +53326,6 @@ MONDO:0002109 "NCIT:C3330" MONDO:0002109 "GARD:0009371" MONDO:0002109 "DOID:1785" MONDO:0002109 "UMLS:C0496842" -MONDO:0002109 "ICD10:C75.1" MONDO:0032724 "DOID:0112200" MONDO:0032724 "OMIM:618395" CL:0002144 "CALOHA:TS-0112" @@ -54648,8 +53335,8 @@ MONDO:0001393 "UMLS:C0339394" MONDO:0001393 "SCTID:56787009" MONDO:0001393 "DOID:11864" MONDO:0001393 "ICD9:363.04" +MONDO:0017789 "ICD10CM:H16.3" MONDO:0017789 "Orphanet:314017" -MONDO:0017789 "ICD10:H16.3" MONDO:0020058 "SCTID:95462004" MONDO:0020058 "ICD9:758.8" MONDO:0020058 "ICD9:758.81" @@ -54658,7 +53345,7 @@ MONDO:0044220 "OMIM:110800" MONDO:0016190 "Orphanet:209050" CL:0000152 "FMA:16014" MONDO:0018043 "MESH:C536514" -MONDO:0018043 "ICD10:Q87.8" +MONDO:0018043 "ICD10CM:Q87.8" MONDO:0018043 "UMLS:C2931225" MONDO:0018043 "GARD:0005175" MONDO:0018043 "Orphanet:3316" @@ -54675,17 +53362,14 @@ MONDO:0000498 "DOID:0050863" MONDO:0004215 "ICD9:022.0" MONDO:0004215 "SCTID:84980006" MONDO:0004215 "UMLS:C0003177" -MONDO:0004215 "ICD10:A22.0" MONDO:0004215 "GARD:0008158" MONDO:0004215 "DOID:7426" MONDO:0004215 "MESH:C531621" -MONDO:0002467 "ICD10:H80.H83" +MONDO:0004215 "ICD10CM:A22.0" MONDO:0002467 "NCIT:C27166" MONDO:0002467 "DOID:2952" -MONDO:0002467 "ICD10:H83.90" -MONDO:0002467 "ICD10:H83.9" +MONDO:0002467 "ICD10CM:H80-H83" MONDO:0002467 "MESH:D007759" -MONDO:0002467 "ICD10:H80-H83" MONDO:0002467 "SCTID:232297009" MONDO:0032607 "OMIM:618223" MONDO:0032607 "DOID:0070345" @@ -54697,15 +53381,15 @@ MONDO:0014705 "OMIM:616602" MONDO:0015690 "DOID:0080166" MONDO:0015690 "ONCOTREE:MLNPDGFRB" MONDO:0015690 "Orphanet:168950" -MONDO:0015690 "ICD10:D47.1" MONDO:0015690 "ICDO:9966/3" MONDO:0015690 "NCIT:C84276" MONDO:0015690 "SCTID:724642009" MONDO:0015690 "UMLS:C2827361" +MONDO:0015690 "ICD10CM:D47.1" MONDO:0020245 "UMLS:CN207066" MONDO:0020245 "Orphanet:98667" MONDO:0009270 "UMLS:C1856466" -MONDO:0009270 "ICD10:Q87.8" +MONDO:0009270 "ICD10CM:Q87.8" MONDO:0009270 "GARD:0002460" MONDO:0009270 "Orphanet:2075" MONDO:0009270 "OMIM:231060" @@ -54713,22 +53397,22 @@ MONDO:0009270 "MESH:C537683" NCBITaxon:6687 "GC_ID:1" MONDO:0010989 "OMIM:601076" MONDO:0010989 "GARD:0005513" -MONDO:0010989 "ICD10:Q87.8" MONDO:0010989 "Orphanet:2578" MONDO:0010989 "Orphanet:3109" +MONDO:0010989 "ICD10CM:Q87.8" MONDO:0010989 "SCTID:717705004" MONDO:0012641 "OMIM:611242" MONDO:0012641 "GARD:0010272" -MONDO:0017284 "ICD10:Q99.8" MONDO:0017284 "Orphanet:284180" +MONDO:0017284 "ICD10CM:Q99.8" MONDO:0017284 "UMLS:CN202846" MONDO:0008165 "UMLS:C1862323" MONDO:0008165 "UMLS:C1833690" MONDO:0008165 "Orphanet:98868" MONDO:0008165 "ICD9:282.1" MONDO:0008165 "Orphanet:288" +MONDO:0008165 "ICD10CM:D58.1" MONDO:0008165 "SCTID:191169008" -MONDO:0008165 "ICD10:D58.1" MONDO:0008165 "OMIM:166900" MONDO:0018230 "Orphanet:364526" NCBITaxon:2750822 "GC_ID:11" @@ -54741,16 +53425,6 @@ MONDO:0005656 "MESH:D017191" MONDO:0004402 "UMLS:C1515305" MONDO:0004402 "DOID:7930" MONDO:0004402 "NCIT:C39926" -MONDO:0006588 "OMIM:600231" -MONDO:0006588 "SCTID:716105001" -MONDO:0006588 "DOID:0050428" -MONDO:0006588 "ICD10:Q82.8" -MONDO:0006588 "OMIM:600962" -MONDO:0006588 "EFO:1000743" -MONDO:0006588 "OMIM:615735" -MONDO:0006588 "UMLS:C0022584" -MONDO:0006588 "SCTID:400123002" -MONDO:0006588 "OMIM:613000" NCBITaxon:203492 "GC_ID:11" MONDO:0009398 "Orphanet:247262" MONDO:0009398 "OMIM:239300" @@ -54760,9 +53434,9 @@ MONDO:0012747 "SCTID:111578003" MONDO:0012747 "MESH:C562718" MONDO:0012747 "GARD:0000600" MONDO:0012747 "ICD9:282.3" +MONDO:0012747 "ICD10CM:E74.0" MONDO:0012747 "OMIM:611881" MONDO:0012747 "Orphanet:57" -MONDO:0012747 "ICD10:E74.0" MONDO:0012747 "UMLS:C0272066" MONDO:0007530 "OMIM:130200" MONDO:0012524 "UMLS:C3463917" @@ -54770,12 +53444,12 @@ MONDO:0012524 "Orphanet:99763" MONDO:0012524 "Orphanet:427" MONDO:0012524 "OMIM:610600" MONDO:0019390 "MedDRA:10071573" -MONDO:0019390 "ICD10:I67.7" MONDO:0019390 "ICD9:348.39" MONDO:0019390 "EFO:1001856" MONDO:0019390 "GARD:0007713" MONDO:0019390 "UMLS:C2717757" MONDO:0019390 "SCTID:702575003" +MONDO:0019390 "ICD10CM:I67.7" MONDO:0019390 "MESH:D055955" MONDO:0019390 "NCIT:C116363" MONDO:0019390 "Orphanet:838" @@ -54784,11 +53458,10 @@ MONDO:0011818 "OMIM:607341" MONDO:0011818 "GARD:0010190" MONDO:0011818 "Orphanet:269008" MONDO:0011818 "Orphanet:269001" -MONDO:0011818 "ICD10:Q04.8" +MONDO:0011818 "ICD10CM:Q04.8" MONDO:0011818 "Orphanet:65683" MONDO:0011818 "MESH:C537067" MONDO:0005186 "EFO:0002610" -MONDO:0005186 "ICD10:F14.2" MONDO:0005186 "NCIT:C34492" MONDO:0005186 "ICD9:304.20" MONDO:0005186 "DOID:9975" @@ -54801,9 +53474,9 @@ MONDO:0004897 "ICD9:378.32" MONDO:0004897 "SCTID:29491004" MONDO:0006260 "MedDRA:10064886" MONDO:0006260 "Orphanet:319319" +MONDO:0006260 "ICD10CM:C64" MONDO:0006260 "GARD:0013175" MONDO:0006260 "ONCOTREE:MRC" -MONDO:0006260 "ICD10:C64" MONDO:0006260 "NCIT:C7572" MONDO:0006260 "UMLS:CN203938" MONDO:0006260 "EFO:1000314" @@ -54815,18 +53488,17 @@ MONDO:0005843 "NCIT:C3221" MONDO:0005843 "SCTID:126725000" MONDO:0005843 "DOID:5559" MONDO:0005843 "ICD9:164.9" -MONDO:0005843 "ICD10:C38.3" MONDO:0005843 "SCTID:363494000" MONDO:0005843 "MESH:D008479" MONDO:0003142 "NCIT:C5817" MONDO:0003142 "UMLS:C1334246" MONDO:0003142 "DOID:4788" +MONDO:0018451 "ICD10CM:G12.2" MONDO:0018451 "Orphanet:404538" -MONDO:0018451 "ICD10:G12.2" MONDO:0014015 "OMIM:615030" +MONDO:0014015 "ICD10CM:G11.4" MONDO:0014015 "UMLS:C3539507" MONDO:0014015 "DOID:0110808" -MONDO:0014015 "ICD10:G11.4" MONDO:0014015 "Orphanet:320411" MONDO:0021969 "GARD:0005888" MONDO:0021969 "MESH:C537903" @@ -54850,11 +53522,11 @@ MONDO:0009964 "DOID:0110097" MONDO:0009964 "OMIM:266920" MONDO:0009964 "GARD:0008600" MONDO:0009964 "OMIM:615630" -MONDO:0009964 "ICD10:Q87.5" +MONDO:0009964 "ICD10CM:Q87.5" MONDO:0009964 "SCTID:254092004" MONDO:0013256 "DOID:0060395" +MONDO:0013256 "ICD10CM:Q93.5" MONDO:0013256 "MESH:C579849" -MONDO:0013256 "ICD10:Q93.5" MONDO:0013256 "SCTID:699308002" MONDO:0013256 "OMIM:613406" MONDO:0013256 "Orphanet:94065" @@ -54870,19 +53542,17 @@ MONDO:0012233 "OMIM:609265" MONDO:0012233 "Orphanet:524" MONDO:0014202 "UMLS:C3809634" MONDO:0014202 "OMIM:615481" -MONDO:0014202 "ICD10:Q34.8" MONDO:0014202 "DOID:0110628" MONDO:0017978 "Orphanet:325638" MONDO:0017978 "UMLS:CN204125" MONDO:0017180 "Orphanet:276422" -MONDO:0017180 "ICD10:Q92.3" MONDO:0017180 "UMLS:CN202619" MONDO:0010753 "DOID:0111765" MONDO:0010753 "GARD:0001096" MONDO:0010753 "SCTID:718128009" -MONDO:0010753 "ICD10:Q24.8" MONDO:0010753 "MESH:C535576" MONDO:0010753 "Orphanet:555877" +MONDO:0010753 "ICD10CM:Q24.8" MONDO:0010753 "OMIM:314400" MONDO:0010753 "Orphanet:1864" HP:0001662 "UMLS:C0428977" @@ -54890,24 +53560,23 @@ HP:0001662 "SNOMEDCT_US:48867003" HP:0001662 "MSH:D001919" NCBITaxon:42458 "GC_ID:1" NCBITaxon:42458 "PMID:17997297" -MONDO:0022174 "NCIT:C36410" -MONDO:0022174 "Orphanet:316244" MONDO:0022174 "UMLS:C0795844" -MONDO:0022174 "ICD10:Q93.5" +MONDO:0022174 "Orphanet:316244" MONDO:0022174 "MESH:C538302" +MONDO:0022174 "NCIT:C36410" +MONDO:0022174 "ICD10CM:Q93.5" MONDO:0022174 "MESH:C538301" MONDO:0022174 "GARD:0006068" MONDO:0010241 "DOID:0110871" MONDO:0010241 "UMLS:C1848172" MONDO:0010241 "OMIM:300071" MONDO:0001488 "DOID:12307" -MONDO:0001488 "ICD10:H18.01" MONDO:0001488 "SCTID:18377001" MONDO:0001488 "ICD9:371.11" MONDO:0001488 "UMLS:C0155104" MONDO:0015807 "Orphanet:178493" +MONDO:0015807 "ICD10CM:H35.3" MONDO:0015807 "SCTID:312898002" -MONDO:0015807 "ICD10:H35.3" MONDO:0015807 "UMLS:C0730271" MONDO:0015807 "EFO:0009201" MONDO:0011474 "MESH:C567037" @@ -54919,8 +53588,8 @@ MONDO:0011474 "OMIM:604559" MONDO:0011474 "ICD9:426.6" MONDO:0014697 "UMLS:C4225277" MONDO:0014697 "OMIM:616576" -MONDO:0013674 "ICD10:G23.0" MONDO:0013674 "ICD9:333.0" +MONDO:0013674 "ICD10CM:G23.0" MONDO:0013674 "Orphanet:289560" MONDO:0013674 "UMLS:C3280371" MONDO:0013674 "DOID:0110738" @@ -54929,13 +53598,12 @@ MONDO:0013674 "GARD:0012569" MONDO:0013674 "OMIM:614298" MONDO:0012420 "MESH:C565717" MONDO:0012420 "OMIM:610153" -MONDO:0012420 "ICD10:H90.3" MONDO:0012420 "DOID:0110506" MONDO:0012420 "NCIT:C129024" MONDO:0012420 "UMLS:C1857811" -MONDO:0015408 "ICD10:I89.8" MONDO:0015408 "SCTID:703298001" MONDO:0015408 "Orphanet:141209" +MONDO:0015408 "ICD10CM:I89.8" MONDO:0015408 "UMLS:C0343090" HP:0001935 "MSH:C562385" HP:0001935 "SNOMEDCT_US:234349007" @@ -54943,8 +53611,8 @@ HP:0001935 "UMLS:C0085576" MONDO:0044308 "OMIM:617406" MONDO:0044308 "UMLS:C4319932" MONDO:0044308 "Orphanet:110" -MONDO:0011682 "ICD10:G11.8" MONDO:0011682 "MESH:C564697" +MONDO:0011682 "ICD10CM:G11.8" MONDO:0011682 "OMIM:606554" MONDO:0011682 "DOID:0050991" MONDO:0011682 "Orphanet:79135" @@ -54957,28 +53625,27 @@ MONDO:0006646 "MESH:D018229" MONDO:0006646 "EFO:1000806" MONDO:0006646 "DOID:4265" MONDO:0006646 "EFO:1000084" -MONDO:0100022 "http://orcid.org/0000-0001-8486-0558" MONDO:0011749 "UMLS:C1847132" MONDO:0011749 "UMLS:C1847024" -MONDO:0011749 "ICD10:E70.3" MONDO:0011749 "OMIM:606952" MONDO:0011749 "MESH:C537729" MONDO:0011749 "Orphanet:352731" +MONDO:0011749 "ICD10CM:E70.3" MONDO:0011749 "DOID:0070095" MONDO:0011749 "Orphanet:79434" MONDO:0011749 "Orphanet:352737" MONDO:0011749 "GARD:0000594" NCBITaxon:1980490 "GC_ID:1" +MONDO:0016051 "ICD10CM:Q87.8" MONDO:0016051 "UMLS:C2931789" MONDO:0016051 "GARD:0000435" MONDO:0016051 "Orphanet:1995" -MONDO:0016051 "ICD10:Q87.8" MONDO:0016051 "MESH:C538272" +MONDO:0019568 "ICD10CM:Q79.6" MONDO:0019568 "MESH:C536195" MONDO:0019568 "NCIT:C125697" MONDO:0019568 "Orphanet:90318" MONDO:0019568 "UMLS:C0268336" -MONDO:0019568 "ICD10:Q79.6" MONDO:0019568 "OMIM:130010" MONDO:0007250 "ICD9:755.59" MONDO:0007250 "MESH:C567780" @@ -54986,33 +53653,32 @@ MONDO:0007250 "MESH:C536852" MONDO:0007250 "SCTID:29271008" MONDO:0007250 "GARD:0009448" MONDO:0007250 "Orphanet:295016" -MONDO:0007250 "ICD10:Q68.1" +MONDO:0007250 "ICD10CM:Q68.1" MONDO:0007250 "OMIM:114200" -MONDO:0009209 "ICD10:Q87.8" +MONDO:0009209 "ICD10CM:Q87.8" MONDO:0009209 "Orphanet:1974" MONDO:0009209 "OMIM:227330" -MONDO:0013928 "ICD10:G24.8" MONDO:0013928 "UMLS:C3538999" +MONDO:0013928 "ICD10CM:G24.8" MONDO:0013928 "DOID:0090051" MONDO:0013928 "Orphanet:420492" MONDO:0013928 "OMIM:614860" MONDO:0020657 "NCIT:C27683" CL:0000223 "FMA:72555" -NCBITaxon:31285 "GC_ID:1" MONDO:0022846 "GARD:0006177" +NCBITaxon:31285 "GC_ID:1" MONDO:0020410 "Orphanet:99070" -MONDO:0020410 "ICD10:Q20.8" +MONDO:0020410 "ICD10CM:Q20.8" MONDO:0017453 "GARD:0002310" MONDO:0017453 "Orphanet:295" +MONDO:0017453 "ICD10CM:P35.8" MONDO:0017453 "SCTID:715197005" -MONDO:0017453 "ICD10:P35.8" MONDO:0017453 "GARD:0004236" MONDO:0017453 "MESH:C536301" NCBITaxon:523089 "GC_ID:1" MONDO:0015292 "Orphanet:137602" MONDO:0019883 "SCTID:764520001" MONDO:0019883 "Orphanet:96101" -MONDO:0019883 "ICD10:Q92.3" MONDO:0008330 "SCTID:254229006" MONDO:0008330 "UMLS:C0432346" MONDO:0008330 "OMIM:177750" @@ -55025,15 +53691,15 @@ MONDO:0010931 "SCTID:237895001" MONDO:0010931 "UMLS:C2748783" MONDO:0010931 "OMIM:600785" MONDO:0010931 "Orphanet:93160" -MONDO:0018686 "ICD10:A81.0" MONDO:0018686 "UMLS:CN237752" MONDO:0018686 "Orphanet:454700" MONDO:0018686 "OMIM:123400" +MONDO:0018686 "ICD10CM:A81.0" MONDO:0018686 "MESH:C538481" MONDO:0009567 "ICD9:742.4" -MONDO:0009567 "ICD10:G11.1" MONDO:0009567 "DOID:0080195" MONDO:0009567 "GARD:0008341" +MONDO:0009567 "ICD10CM:G11.1" MONDO:0009567 "SCTID:80734006" MONDO:0009567 "OMIM:248800" MONDO:0009567 "UMLS:C0024814" @@ -55054,28 +53720,27 @@ MONDO:0015495 "UMLS:CN199632" MONDO:0015300 "OMIM:116200" MONDO:0015300 "MESH:C538287" MONDO:0015300 "OMIM:601547" +MONDO:0015300 "ICD10CM:Q13.8" MONDO:0015300 "OMIM:115700" MONDO:0015300 "GARD:0001155" MONDO:0015300 "Orphanet:1377" MONDO:0015300 "OMIM:604219" -MONDO:0015300 "ICD10:Q13.8" MONDO:0018894 "Orphanet:53739" MONDO:0018894 "GARD:0012683" MONDO:0018894 "SCTID:230247001" NCBITaxon:2732534 "GC_ID:1" MONDO:0017500 "Orphanet:295097" -MONDO:0017500 "ICD10:Q72.2" +MONDO:0017500 "ICD10CM:Q72.2" MONDO:0017674 "UMLS:CN203558" MONDO:0017674 "Orphanet:307871" MONDO:0005351 "OMIM:610269" MONDO:0005351 "NCIT:C34387" MONDO:0005351 "EFO:0004215" -MONDO:0005351 "ICD10:F50.00" MONDO:0005351 "DOID:8689" MONDO:0005351 "SCTID:56882008" +MONDO:0005351 "ICD10CM:F50.0" MONDO:0005351 "MESH:D000856" MONDO:0005351 "Orphanet:36297" -MONDO:0005351 "ICD10:F50.0" MONDO:0005351 "ICD9:307.1" MONDO:0009638 "UMLS:C1855034" MONDO:0009638 "OMIM:251945" @@ -55086,7 +53751,7 @@ MONDO:0015799 "GARD:0010620" MONDO:0015799 "DOID:0060247" MONDO:0015799 "Orphanet:178355" MONDO:0015799 "OMIMPS:607326" -MONDO:0015799 "ICD10:Q77.7" +MONDO:0015799 "ICD10CM:Q77.7" MONDO:0015799 "OMIM:607326" MONDO:0015799 "MESH:C564589" MONDO:0013106 "UMLS:C2751600" @@ -55094,7 +53759,6 @@ MONDO:0013106 "OMIM:613063" MONDO:0000706 "DOID:0060186" MONDO:0000706 "ICD9:558.9" MONDO:0000706 "ICD9:558" -MONDO:0000706 "ICD10:K52" MONDO:0000706 "SCTID:72965009" MONDO:0012390 "UMLS:C1864939" MONDO:0012390 "OMIM:610001" @@ -55103,15 +53767,14 @@ MONDO:0012390 "MESH:C535381" MONDO:0018902 "UMLS:C0206669" MONDO:0018902 "OMIM:142330" MONDO:0018902 "MESH:D018248" -MONDO:0018902 "OMIM:114550" MONDO:0018902 "ONCOTREE:LIAD" MONDO:0018902 "ICDO:8170/0" MONDO:0018902 "NCIT:C3758" -MONDO:0018902 "ICD10:D13.4" MONDO:0018902 "EFO:0000762" MONDO:0018902 "MedDRA:10019827" MONDO:0018902 "Orphanet:54272" MONDO:0018902 "DOID:0050868" +MONDO:0018902 "ICD10CM:D13.4" MONDO:0021078 "UMLS:C0205650" MONDO:0021078 "NCIT:C6880" MONDO:0002669 "NCIT:C6656" @@ -55123,11 +53786,11 @@ NCBITaxon:2037 "PMID:19244447" NCBITaxon:2037 "PMID:10028252" NCBITaxon:2037 "PMID:28840812" MONDO:0011114 "UMLS:C1275122" -MONDO:0011114 "ICD10:D23.3" MONDO:0011114 "SCTID:403825008" MONDO:0011114 "Orphanet:79493" MONDO:0011114 "OMIM:601606" MONDO:0011114 "Orphanet:867" +MONDO:0011114 "ICD10CM:D23.3" MONDO:0011114 "GARD:0010867" MONDO:0011114 "OMIM:612099" MONDO:0060585 "UMLS:C4540265" @@ -55139,10 +53802,10 @@ MONDO:0003611 "NCIT:C40142" MONDO:0003611 "DOID:5726" MONDO:0008879 "OMIM:211180" MONDO:0008879 "MESH:C537081" -MONDO:0008879 "ICD10:Q87.8" MONDO:0008879 "UMLS:C1859405" MONDO:0008879 "DOID:0050684" MONDO:0008879 "SCTID:711153001" +MONDO:0008879 "ICD10CM:Q87.8" MONDO:0008879 "GARD:0005950" MONDO:0008879 "Orphanet:1270" MONDO:0008879 "ICD9:759.89" @@ -55150,7 +53813,7 @@ HP:0002197 "MSH:D012640" HP:0002197 "SNOMEDCT_US:246545002" HP:0002197 "UMLS:C1833488" HP:0002197 "UMLS:C0234533" -MONDO:0012739 "ICD10:Q15.8" +MONDO:0012739 "ICD10CM:Q15.8" MONDO:0012739 "UMLS:C2678482" MONDO:0012739 "Orphanet:139450" MONDO:0012739 "MESH:C567512" @@ -55166,8 +53829,8 @@ MONDO:0007827 "ICD9:729.1" MONDO:0007827 "Orphanet:611" MONDO:0007827 "MESH:D018979" MONDO:0007827 "ICD9:359.71" -MONDO:0007827 "ICD10:M60.8" MONDO:0007827 "EFO:0007323" +MONDO:0007827 "ICD10CM:M60.8" MONDO:0007827 "OMIM:605637" MONDO:0007827 "MedDRA:10066407" MONDO:0007827 "UMLS:C0238190" @@ -55175,21 +53838,20 @@ MONDO:0007827 "OMIM:147421" MONDO:0007827 "DOID:3429" MONDO:0007827 "GARD:0003896" MONDO:0007827 "NCIT:C84786" -MONDO:0007827 "ICD10:G72.41" NCBITaxon:337963 "PMID:15371245" NCBITaxon:337963 "GC_ID:1" MONDO:0004091 "NCIT:C27543" MONDO:0004091 "DOID:7049" MONDO:0004091 "UMLS:C1335973" -MONDO:0011335 "ICD10:Q77.7" -MONDO:0011335 "Orphanet:93360" -MONDO:0011335 "MESH:C535784" -MONDO:0011335 "DOID:0112199" MONDO:0011335 "GARD:0009866" -MONDO:0011335 "NCIT:C125419" -MONDO:0011335 "UMLS:C1863732" +MONDO:0011335 "ICD10CM:Q77.7" +MONDO:0011335 "DOID:0112199" MONDO:0011335 "OMIM:603546" +MONDO:0011335 "MESH:C535784" +MONDO:0011335 "Orphanet:93360" +MONDO:0011335 "NCIT:C125419" MONDO:0011335 "SCTID:766820007" +MONDO:0011335 "UMLS:C1863732" MONDO:0006291 "NCIT:C4623" MONDO:0006291 "UMLS:C0347856" MONDO:0006291 "EFO:1000353" @@ -55205,8 +53867,8 @@ MONDO:0009320 "UMLS:C1856198" MONDO:0009320 "Orphanet:2107" MONDO:0009320 "SCTID:721008000" MONDO:0009320 "GARD:0002586" +MONDO:0009320 "ICD10CM:Q87.8" MONDO:0009320 "MESH:C535623" -MONDO:0009320 "ICD10:Q87.8" MONDO:0009320 "OMIM:234250" HP:0000252 "UMLS:C4551563" HP:0000252 "SNOMEDCT_US:271611007" @@ -55221,19 +53883,18 @@ MONDO:0032684 "OMIM:618336" MONDO:0030087 "OMIM:618856" MONDO:0016357 "GARD:0002022" MONDO:0016357 "UMLS:CN201209" -MONDO:0016357 "ICD10:M89.8" MONDO:0016357 "Orphanet:2204" +MONDO:0016357 "ICD10CM:M89.8" MONDO:0015103 "UMLS:CN197455" -MONDO:0015103 "ICD10:Q22.2" MONDO:0015103 "Orphanet:101206" +MONDO:0015103 "ICD10CM:Q22.2" MONDO:0010064 "GARD:0003795" MONDO:0010064 "OMIM:271320" MONDO:0010064 "MESH:C536989" MONDO:0010064 "Orphanet:2572" MONDO:0010064 "SCTID:715465001" MONDO:0010064 "UMLS:C1849085" -MONDO:0010064 "ICD10:G11.8" -MONDO:0001198 "ICD10:D69.5" +MONDO:0010064 "ICD10CM:G11.8" MONDO:0001198 "SCTID:74576004" MONDO:0001198 "UMLS:C0154301" MONDO:0001198 "DOID:11126" @@ -55245,23 +53906,17 @@ MONDO:0012264 "Orphanet:275555" MONDO:0012264 "OMIM:609402" MONDO:0012264 "UMLS:C1836257" MONDO:0030473 "OMIM:619606" -MONDO:0019733 "ICD10:E85.0" +MONDO:0019733 "ICD10CM:E85.0" MONDO:0019733 "Orphanet:93562" MONDO:0019733 "UMLS:CN206640" NCBITaxon:6854 "GC_ID:1" -MONDO:0018536 "ICD10:C24.8" MONDO:0018536 "SCTID:765741003" MONDO:0018536 "UMLS:CN237537" -MONDO:0018536 "ICD10:C28.9" MONDO:0018536 "Orphanet:424991" -MONDO:0018536 "ICD10:C24.1" -MONDO:0018536 "ICD10:C23" -MONDO:0018536 "ICD10:C24.0" MONDO:0011703 "MESH:C564678" MONDO:0011703 "UMLS:C1847650" MONDO:0011703 "OMIM:606688" MONDO:0010933 "MESH:C566366" -MONDO:0010933 "ICD10:H90.3" MONDO:0010933 "Orphanet:90636" MONDO:0010933 "DOID:0110498" MONDO:0010933 "OMIM:600791" @@ -55279,19 +53934,19 @@ MONDO:0009075 "UMLS:C1857351" MONDO:0009075 "OMIM:220220" MONDO:0009075 "SCTID:733094005" MONDO:0009075 "MESH:C535771" +MONDO:0009075 "ICD10CM:Q87.8" MONDO:0009075 "GARD:0001669" MONDO:0009075 "Orphanet:1566" -MONDO:0009075 "ICD10:Q87.8" +MONDO:0014899 "ICD10CM:G71.3" MONDO:0014899 "OMIM:617070" MONDO:0014899 "SCTID:733599009" -MONDO:0014899 "ICD10:G71.3" MONDO:0014899 "Orphanet:329314" MONDO:0014899 "DOID:0111516" MONDO:0014899 "UMLS:C4310733" NCBITaxon:59848 "GC_ID:1" MONDO:0030505 "OMIM:619662" +MONDO:0017089 "ICD10CM:Q04.5" MONDO:0017089 "Orphanet:268920" -MONDO:0017089 "ICD10:Q04.5" MONDO:0018035 "UMLS:CN204279" MONDO:0018035 "Orphanet:331217" MONDO:0020215 "UMLS:CN227823" @@ -55304,7 +53959,6 @@ MONDO:0004574 "GARD:0004616" MONDO:0004574 "SCTID:86448001" MONDO:0004574 "DOID:8455" MONDO:0004574 "ICD9:266.1" -MONDO:0004574 "ICD10:E53.1" MONDO:0004574 "MESH:D026681" MONDO:0004574 "ICD9:281.8" MONDO:0013887 "Orphanet:450" @@ -55322,7 +53976,7 @@ MONDO:0017276 "OMIM:600795" MONDO:0017276 "MedDRA:10068968" MONDO:0017276 "DOID:9255" MONDO:0017276 "MESH:D057180" -MONDO:0017276 "ICD10:G31.0" +MONDO:0017276 "ICD10CM:G31.0" MONDO:0017276 "UMLS:C0338451" MONDO:0017276 "OMIM:607485" MONDO:0017276 "GARD:0008436" @@ -55332,18 +53986,18 @@ MONDO:0004411 "EFO:1000224" MONDO:0004411 "DOID:7959" MONDO:0004411 "NCIT:C5731" MONDO:0004411 "UMLS:C1333321" -MONDO:0016910 "UMLS:CN035778" -MONDO:0016910 "NCIT:C37312" -MONDO:0016910 "GTR:AN0100479" MONDO:0016910 "MESH:C538296" +MONDO:0016910 "ICD10CM:Q93.5" +MONDO:0016910 "GARD:0001735" MONDO:0016910 "GTR:AN0100478" +MONDO:0016910 "GTR:AN0100479" +MONDO:0016910 "UMLS:CN035778" MONDO:0016910 "GTR:AN0100480" -MONDO:0016910 "GARD:0001735" -MONDO:0016910 "ICD10:Q93.5" MONDO:0016910 "Orphanet:262092" +MONDO:0016910 "NCIT:C37312" MONDO:0010337 "SCTID:719136005" MONDO:0010337 "GARD:0013093" -MONDO:0010337 "ICD10:Q04.3" +MONDO:0010337 "ICD10CM:Q04.3" MONDO:0010337 "Orphanet:137831" MONDO:0010337 "GARD:0009947" MONDO:0010337 "OMIM:300486" @@ -55359,7 +54013,7 @@ MONDO:0005648 "ICD9:395.1" MONDO:0005648 "MESH:D001022" MONDO:0005648 "UMLS:C0155568" MONDO:0005648 "DOID:57" -MONDO:0005648 "ICD10:I06.1" +MONDO:0005648 "ICD10CM:I06.1" MONDO:0003214 "UMLS:C0334346" MONDO:0003214 "GARD:0012138" MONDO:0003214 "ICDO:8401/3" @@ -55379,11 +54033,11 @@ MONDO:0017347 "SCTID:724648008" MONDO:0017347 "NCIT:C7224" MONDO:0017347 "MESH:D000069293" MONDO:0017347 "ICDO:9735/3" +MONDO:0017347 "ICD10CM:C83.3" MONDO:0017347 "ONCOTREE:PLBL" MONDO:0017347 "Orphanet:289666" MONDO:0017347 "ICDO:9684/3" MONDO:0017347 "UMLS:C3472614" -MONDO:0017347 "ICD10:C83.3" MONDO:0017347 "MedDRA:10065039" MONDO:0017347 "GARD:0012125" MONDO:0008532 "OMIM:187050" @@ -55393,16 +54047,16 @@ MONDO:0019250 "Orphanet:79214" MONDO:0019250 "UMLS:CN227606" MONDO:0012195 "SCTID:715575001" MONDO:0012195 "MESH:C563791" -MONDO:0012195 "ICD10:Q68.8" +MONDO:0012195 "ICD10CM:Q68.8" MONDO:0012195 "Orphanet:65720" MONDO:0012195 "UMLS:C1836756" MONDO:0012195 "OMIM:609128" MONDO:0002188 "UMLS:C1520091" MONDO:0002188 "NCIT:C40312" MONDO:0002188 "DOID:2060" -MONDO:0002202 "ICD9:564.02" -MONDO:0002202 "ICD10:K59.02" MONDO:0002202 "DOID:2088" +MONDO:0002202 "ICD9:564.02" +MONDO:0002202 "ICD10CM:K59.02" MONDO:0007335 "UMLS:C1861537" MONDO:0007335 "MESH:C566121" MONDO:0007335 "OMIM:119530" @@ -55414,7 +54068,6 @@ MONDO:0001822 "GARD:0008394" MONDO:0001822 "HP:0010981" MONDO:0001822 "ICD9:272.5" MONDO:0001822 "SCTID:363140000" -MONDO:0001822 "ICD10:E78.6" MONDO:0001822 "DOID:1387" MONDO:0006120 "UMLS:C0342190" MONDO:0006120 "EFO:1000147" @@ -55427,8 +54080,8 @@ MONDO:0014374 "UMLS:C3890591" HP:0011495 "UMLS:C4023326" MONDO:0020601 "NCIT:C34823" MONDO:0018725 "Orphanet:459074" -MONDO:0018725 "ICD10:Q04.0" MONDO:0018725 "UMLS:CN242137" +MONDO:0018725 "ICD10CM:Q04.0" MONDO:0033557 "OMIM:618998" MONDO:0009973 "NCIT:C27070" MONDO:0009973 "DOID:0060020" @@ -55437,7 +54090,6 @@ MONDO:0009973 "GARD:0008625" MONDO:0009973 "Orphanet:33355" MONDO:0009973 "SCTID:111584000" MONDO:0009973 "OMIM:267500" -MONDO:0009973 "ICD10:D81.0" MONDO:0009973 "UMLS:C0272167" MONDO:0001790 "ICD9:214.8" MONDO:0001790 "UMLS:C0347446" @@ -55450,10 +54102,9 @@ MONDO:0007693 "MedDRA:10068636" MONDO:0007693 "MESH:C535618" MONDO:0007693 "OMIM:139600" MONDO:0007693 "UMLS:C1841696" -MONDO:0007693 "ICD10:Q84.2" +MONDO:0007693 "ICD10CM:Q84.2" MONDO:0014211 "DOID:0110627" MONDO:0014211 "OMIM:615500" -MONDO:0014211 "ICD10:Q34.8" MONDO:0014211 "UMLS:C3809684" MONDO:0006323 "NCIT:C36127" MONDO:0006323 "EFO:1000401" @@ -55466,19 +54117,18 @@ HP:0001654 "SNOMEDCT_US:368009" HP:0001654 "MSH:D006349" MONDO:0019336 "MESH:D005736" MONDO:0019336 "OMIM:175100" -MONDO:0019336 "ICD10:D12.6" MONDO:0019336 "GARD:0006482" MONDO:0019336 "Orphanet:79665" MONDO:0019336 "NCIT:C6728" MONDO:0019336 "UMLS:C0017097" MONDO:0019336 "SCTID:60876000" MONDO:0019336 "ICD9:759.89" +MONDO:0019336 "ICD10CM:D12.6" MONDO:0019336 "MedDRA:10017727" MONDO:0023249 "SCTID:445479007" MONDO:0023249 "UMLS:C0311221" MONDO:0023249 "GARD:0010967" MONDO:0014539 "OMIM:616220" -MONDO:0014539 "ICD10:N04.1" MONDO:0014539 "DOID:0111134" MONDO:0014539 "UMLS:C4015555" MONDO:0004006 "NCIT:C40020" @@ -55497,8 +54147,8 @@ MONDO:0006206 "SCTID:276870001" MONDO:0007764 "Orphanet:2790" MONDO:0007764 "OMIM:144750" MONDO:0007764 "GARD:0000390" -MONDO:0007764 "ICD10:Q78.2" -MONDO:0008940 "ICD10:Q87.8" +MONDO:0007764 "ICD10CM:Q78.2" +MONDO:0008940 "ICD10CM:Q87.8" MONDO:0008940 "Orphanet:85186" MONDO:0008940 "UMLS:C1859301" MONDO:0008940 "MESH:C535353" @@ -55510,43 +54160,41 @@ MONDO:0005401 "EFO:0004288" MONDO:0005401 "NCIT:C2953" MONDO:0005401 "MESH:D003110" MONDO:0008918 "OMIM:212138" +MONDO:0008918 "ICD10CM:E71.3" MONDO:0008918 "MESH:C562812" MONDO:0008918 "SCTID:238003000" MONDO:0008918 "DOID:0111585" MONDO:0008918 "GARD:0001123" MONDO:0008918 "Orphanet:159" MONDO:0008918 "NCIT:C133086" -MONDO:0008918 "ICD10:E71.3" MONDO:0008918 "UMLS:C0342791" MONDO:0016880 "Orphanet:261836" -MONDO:0016880 "ICD10:Q93.5" +MONDO:0016880 "ICD10CM:Q93.5" NCBITaxon:40411 "GC_ID:1" HP:0000924 "UMLS:C4021790" MONDO:0013831 "OMIM:614623" MONDO:0013831 "UMLS:C3553306" MONDO:0005447 "ICD9:186" MONDO:0005447 "NCIT:C5053" -MONDO:0005447 "ICD10:C62.9" MONDO:0005447 "SCTID:126900000" MONDO:0005447 "DOID:2998" MONDO:0005447 "MESH:D013736" MONDO:0005447 "GARD:0007746" MONDO:0005447 "OMIM:273300" MONDO:0005447 "NCIT:C7251" -MONDO:0005447 "ICD10:C62" MONDO:0005447 "SCTID:363449006" -MONDO:0005447 "ICD10:C62.90" MONDO:0005447 "NCIT:C3404" MONDO:0005447 "EFO:0005088" MONDO:0005447 "ICD9:186.9" MONDO:0020217 "Orphanet:98632" +MONDO:0008823 "OMIM:617468" MONDO:0008823 "MESH:C536614" -MONDO:0008823 "ICD10:Q74.3" MONDO:0008823 "SCTID:715316005" MONDO:0008823 "DOID:0090124" MONDO:0008823 "Orphanet:1143" MONDO:0008823 "GARD:0000790" MONDO:0008823 "UMLS:C1859721" +MONDO:0008823 "ICD10CM:Q74.3" MONDO:0008823 "OMIM:208100" MONDO:0100381 "NCIT:C132105" MONDO:0100381 "NCIT:C36610" @@ -55607,13 +54255,11 @@ MONDO:0015814 "SCTID:404143002" MONDO:0015814 "Orphanet:178540" MONDO:0015814 "UMLS:C1333171" MONDO:0015814 "ONCOTREE:PCFCL" -MONDO:0015814 "ICD10:C82.6" MONDO:0015814 "ICDO:9597/3" MONDO:0015814 "NCIT:C7217" MONDO:0001035 "SCTID:6395007" MONDO:0001035 "ICD9:370.04" MONDO:0001035 "UMLS:C0155070" -MONDO:0001035 "ICD10:H16.03" MONDO:0001035 "DOID:10442" MONDO:0013185 "Orphanet:548" MONDO:0013185 "OMIM:613223" @@ -55638,9 +54284,7 @@ MONDO:0015168 "GARD:0000777" MONDO:0015168 "MedDRA:10051643" MONDO:0015168 "Orphanet:1037" MONDO:0015168 "OMIMPS:617468" -MONDO:0015168 "ICD10:Q74.3" MONDO:0013489 "UMLS:C3151351" -MONDO:0013489 "ICD10:H90.3" MONDO:0013489 "Orphanet:90636" MONDO:0013489 "DOID:0110534" MONDO:0013489 "OMIM:613916" @@ -55659,8 +54303,8 @@ MONDO:0008322 "SCTID:22567005" MONDO:0008322 "Orphanet:750" MONDO:0008322 "MESH:C535819" MONDO:0008322 "UMLS:C0410538" -MONDO:0008322 "ICD10:Q77.8" MONDO:0008322 "DOID:0080047" +MONDO:0008322 "ICD10CM:Q77.8" MONDO:0008322 "ICD9:756.9" MONDO:0044339 "NCIT:C27154" MONDO:0044339 "EFO:0004994" @@ -55693,7 +54337,7 @@ MONDO:0005156 "UMLS:C0014070" MONDO:0005156 "SCTID:62950007" MONDO:0014014 "UMLS:C3554367" MONDO:0014014 "Orphanet:412189" -MONDO:0014014 "ICD10:Q81.0" +MONDO:0014014 "ICD10CM:Q81.0" MONDO:0014014 "OMIM:615028" MONDO:0010502 "OMIM:300968" MONDO:0005813 "SCTID:715664005" @@ -55704,12 +54348,11 @@ MONDO:0005813 "EFO:0007329" MONDO:0005813 "MESH:D054739" MONDO:0005813 "ICDO:9757/3" MONDO:0005813 "ONCOTREE:IDCS" -MONDO:0005813 "ICD10:C96.4" MONDO:0100014 "GARD:0012034" MONDO:0100014 "UMLS:C3203657" MONDO:0100014 "SCTID:724809006" MONDO:0015097 "ICD9:746.89" -MONDO:0015097 "ICD10:Q23.0" +MONDO:0015097 "ICD10CM:Q23.0" MONDO:0015097 "SCTID:253604004" MONDO:0015097 "Orphanet:101043" MONDO:0044925 "NCIT:C8990" @@ -55722,9 +54365,8 @@ MONDO:0000878 "SCTID:22455005" MONDO:0000878 "GARD:0009531" MONDO:0000878 "NCIT:C50521" MONDO:0001824 "ICD9:356.9" -MONDO:0001824 "ICD10:A69.22" MONDO:0001824 "DOID:1389" -MONDO:0001824 "ICD10:G62.9" +MONDO:0001824 "ICD10CM:G60-G65" MONDO:0001824 "ICD9:357.4" MONDO:0001824 "SCTID:42345000" MONDO:0001824 "UMLS:C0152025" @@ -55745,13 +54387,12 @@ MONDO:0007953 "Orphanet:1248" MONDO:0007953 "SCTID:715985008" MONDO:0007953 "OMIM:155050" MONDO:0007953 "GARD:0006992" +MONDO:0007953 "ICD10CM:Q75.8" MONDO:0007953 "MESH:C536036" -MONDO:0007953 "ICD10:Q75.8" MONDO:0001707 "DOID:13405" MONDO:0001707 "NCIT:C35589" MONDO:0001707 "SCTID:75403004" MONDO:0001707 "UMLS:C0392077" -MONDO:0017870 "ICD10:Q25.6" MONDO:0017870 "Orphanet:3192" MONDO:0017870 "GARD:0004594" MONDO:0007999 "Orphanet:2162" @@ -55761,7 +54402,7 @@ MONDO:0007999 "OMIM:157170" MONDO:0007999 "UMLS:C1834877" MONDO:0007999 "MESH:C563579" MONDO:0014821 "OMIM:616897" -MONDO:0014821 "ICD10:Q78.8" +MONDO:0014821 "ICD10CM:Q78.8" MONDO:0014821 "Orphanet:457378" MONDO:0014821 "UMLS:C4225162" MONDO:0000902 "DOID:0060600" @@ -55769,13 +54410,13 @@ MONDO:0000902 "DOID:0090003" MONDO:0000902 "SCTID:702439002" MONDO:0000902 "UMLS:C0795950" MONDO:0000902 "Orphanet:1496" +MONDO:0000902 "ICD10CM:G60.0" MONDO:0000902 "OMIM:218000" MONDO:0000902 "GARD:0001537" -MONDO:0000902 "ICD10:G60.0" MONDO:0000902 "MESH:C536446" MONDO:0016546 "Orphanet:238606" -MONDO:0016546 "ICD10:G25.2" MONDO:0016546 "GARD:0008563" +MONDO:0016546 "ICD10CM:G25.2" MONDO:0016546 "SCTID:715902009" MONDO:0016546 "MESH:C536418" NCBITaxon:519 "GC_ID:11" @@ -55787,8 +54428,8 @@ MONDO:0003639 "NCIT:C5671" MONDO:0003639 "DOID:5767" MONDO:0003639 "UMLS:C1290358" MONDO:0003639 "SCTID:126707007" +MONDO:0007836 "ICD10CM:Q71.8" MONDO:0007836 "OMIM:147750" -MONDO:0007836 "ICD10:Q71.8" MONDO:0007836 "GARD:0000269" MONDO:0007836 "DOID:0111381" MONDO:0007836 "Orphanet:2307" @@ -55797,38 +54438,37 @@ MONDO:0007836 "UMLS:C1327918" MONDO:0007836 "SCTID:722019000" MONDO:0032829 "OMIM:618603" MONDO:0009125 "OMIM:223380" -MONDO:0019922 "ICD10:Q99.8" +MONDO:0019922 "ICD10CM:Q99.8" MONDO:0019922 "SCTID:766721001" MONDO:0019922 "Orphanet:96192" MONDO:0011390 "DOID:0111129" MONDO:0011390 "MESH:C565831" MONDO:0011390 "OMIM:603965" MONDO:0011390 "UMLS:C1858915" -MONDO:0011390 "ICD10:N04.1" -MONDO:0012032 "ICD10:Q87.8" MONDO:0012032 "MESH:C564244" MONDO:0012032 "SCTID:720575002" MONDO:0012032 "UMLS:C4303988" MONDO:0012032 "Orphanet:52047" MONDO:0012032 "OMIM:608406" MONDO:0012032 "UMLS:C1842082" +MONDO:0012032 "ICD10CM:Q87.8" MONDO:0016804 "Orphanet:254843" MONDO:0002025 "MESH:D001523" MONDO:0002025 "DOID:150" -MONDO:0002025 "ICD10:F99" +MONDO:0002025 "ICD10CM:F01-F99" MONDO:0002025 "MFOMD:0000004" MONDO:0002025 "NCIT:C2893" -MONDO:0002025 "ICD10:F99-F99" +MONDO:0002025 "ICD10CM:F40-F48" MONDO:0020467 "UMLS:CN776903" -MONDO:0020467 "ICD10:Q96.3" MONDO:0020467 "SCTID:710010005" MONDO:0020467 "UMLS:C4040907" -MONDO:0020467 "ICD10:Q96.4" +MONDO:0020467 "ICD10CM:Q96.3" MONDO:0020467 "Orphanet:99228" +MONDO:0020467 "ICD10CM:Q96.4" MONDO:0011652 "ICD9:758.39" MONDO:0011652 "GARD:0010130" +MONDO:0011652 "ICD10CM:Q93.5" MONDO:0011652 "MESH:C536801" -MONDO:0011652 "ICD10:Q93.5" MONDO:0011652 "OMIM:606232" MONDO:0011652 "DOID:0080354" MONDO:0011652 "Orphanet:48652" @@ -55844,9 +54484,7 @@ MONDO:0017987 "UMLS:C0039144" MONDO:0017987 "OMIM:186700" MONDO:0017987 "SCTID:111496009" MONDO:0017987 "MESH:D013595" -MONDO:0017987 "ICD10:G95.0" MONDO:0017987 "MedDRA:10042928" -MONDO:0017987 "ICD10:Q06.4" MONDO:0017987 "DOID:327" MONDO:0017987 "Orphanet:3280" MONDO:0017987 "NCIT:C85179" @@ -55861,20 +54499,19 @@ MONDO:0016733 "MedDRA:10017701" MONDO:0016733 "SCTID:87191000119100" MONDO:0016733 "NCIT:C3788" MONDO:0016733 "GARD:0002430" +MONDO:0020396 "ICD10CM:Q22.8" +MONDO:0020396 "Orphanet:99055" MONDO:0004624 "ICD9:145.4" -MONDO:0004624 "ICD10:C05.2" MONDO:0004624 "DOID:8635" MONDO:0004624 "UMLS:C0153377" MONDO:0004624 "SCTID:363389001" MONDO:0004624 "NCIT:C35177" -MONDO:0020396 "Orphanet:99055" -MONDO:0020396 "ICD10:Q22.8" MONDO:0018933 "Orphanet:57782" MONDO:0018933 "SCTID:699251001" MONDO:0018933 "ICD9:215.9" -MONDO:0018933 "ICD10:M85.0" MONDO:0018933 "ICD9:733.29" MONDO:0018933 "UMLS:CN205323" +MONDO:0018933 "ICD10CM:M85.0" MONDO:0003774 "MESH:D008579" MONDO:0003774 "NCIT:C4959" MONDO:0003774 "DOID:6114" @@ -55897,8 +54534,8 @@ MONDO:0010893 "OMIM:600467" MONDO:0006146 "NCIT:C42589" MONDO:0006146 "UMLS:C1707390" MONDO:0006146 "EFO:1000175" -MONDO:0012746 "ICD10:I42.0" MONDO:0012746 "DOID:0110460" +MONDO:0012746 "ICD10CM:I42.0" MONDO:0012746 "UMLS:C2678474" MONDO:0012746 "OMIM:611880" MONDO:0006803 "MESH:D056989" @@ -55907,44 +54544,44 @@ MONDO:0006803 "MedDRA:10057546" MONDO:0006803 "DOID:5850" MONDO:0006803 "UMLS:C0340305" MONDO:0015816 "Orphanet:178548" -MONDO:0018591 "ICD10:E85.4+" MONDO:0018591 "ICD9:277.39" -MONDO:0018591 "ICD10:I68.0*" MONDO:0018591 "UMLS:CN237622" MONDO:0018591 "SCTID:45639009" +MONDO:0018591 "ICD10EXP:E85.4+" MONDO:0018591 "OMIM:117300" MONDO:0018591 "Orphanet:439254" +MONDO:0018591 "ICD10EXP:I68.0*" MONDO:0018591 "OMIM:176500" MONDO:0015417 "Orphanet:141265" -MONDO:0015417 "ICD10:Q18.8" +MONDO:0015417 "ICD10CM:Q18.8" +MONDO:0016349 "ICD10CM:Q03.9" MONDO:0016349 "SCTID:47032000" +MONDO:0016349 "ICD10CM:Q03.8" MONDO:0016349 "OMIM:615219" +MONDO:0016349 "ICD10CM:Q03.1" MONDO:0016349 "Orphanet:2185" MONDO:0016349 "MedDRA:10010506" -MONDO:0016349 "ICD10:Q03.9" -MONDO:0016349 "ICD10:Q03.8" +MONDO:0016349 "ICD10CM:Q03.0" +MONDO:0016349 "ICD10CM:Q03" MONDO:0016349 "OMIMPS:236600" MONDO:0016349 "UMLS:C0020256" -MONDO:0016349 "ICD10:Q03.1" -MONDO:0016349 "ICD10:Q03.0" MONDO:0016349 "NCIT:C98876" -MONDO:0016349 "ICD10:Q03" MONDO:0016349 "OMIM:236600" MONDO:0019159 "NCIT:C27044" -MONDO:0019159 "ICD10:I42.3" MONDO:0019159 "SCTID:449829009" MONDO:0019159 "MedDRA:10052841" +MONDO:0019159 "ICD10CM:I42.3" MONDO:0019159 "Orphanet:75566" MONDO:0019159 "DOID:396" -MONDO:0020835 "OMIM:617973" MONDO:0001645 "NCIT:C35444" MONDO:0001645 "ICD9:580.4" MONDO:0001645 "SCTID:236398000" MONDO:0001645 "HP:0008653" MONDO:0001645 "DOID:13139" -MONDO:0014413 "ICD10:Q87.0" +MONDO:0020835 "OMIM:617973" MONDO:0014413 "SCTID:763837007" MONDO:0014413 "OMIM:615948" +MONDO:0014413 "ICD10CM:Q87.0" MONDO:0014413 "UMLS:C4014780" MONDO:0014413 "Orphanet:434179" MONDO:0003845 "UMLS:C1333160" @@ -55957,15 +54594,15 @@ MONDO:0006029 "DOID:1519" MONDO:0006029 "NCIT:C3491" MONDO:0007587 "UMLS:C2930867" MONDO:0007587 "Orphanet:3023" -MONDO:0007587 "ICD10:Q87.8" +MONDO:0007587 "ICD10CM:Q87.8" MONDO:0007587 "OMIM:133705" MONDO:0007587 "GARD:0004638" -MONDO:0043452 "SCTID:205649008" -MONDO:0043452 "MESH:C537942" -MONDO:0043452 "NCIT:C36396" MONDO:0000518 "DOID:0050900" MONDO:0000518 "UMLS:C3164279" MONDO:0000518 "SCTID:447730004" +MONDO:0043452 "SCTID:205649008" +MONDO:0043452 "MESH:C537942" +MONDO:0043452 "NCIT:C36396" MONDO:0041903 "SCTID:44743006" MONDO:0041903 "UMLS:C0153216" MONDO:0024354 "NCIT:C35360" @@ -55978,7 +54615,7 @@ MONDO:0010504 "OMIM:300972" MONDO:0010504 "UMLS:C4310819" MONDO:0032725 "OMIM:618396" MONDO:0019538 "SCTID:36874002" -MONDO:0019538 "ICD10:D75.1" +MONDO:0019538 "ICD10CM:D75.1" MONDO:0019538 "GARD:0008402" MONDO:0019538 "NCIT:C27174" MONDO:0019538 "MedDRA:10053885" @@ -55993,7 +54630,7 @@ MONDO:0018864 "SCTID:127217009" MONDO:0018864 "UMLS:C0398367" MONDO:0018864 "GARD:0006834" MONDO:0018864 "Orphanet:50918" -MONDO:0018864 "ICD10:I88.1" +MONDO:0018864 "ICD10CM:I88.1" MONDO:0018864 "MESH:D020042" MONDO:0008628 "EFO:1001227" MONDO:0008628 "NCIT:C123159" @@ -56032,14 +54669,15 @@ MONDO:0015262 "DOID:0050690" MONDO:0015262 "Orphanet:1293" MONDO:0015262 "UMLS:C0432228" MONDO:0015262 "OMIM:113500" -MONDO:0015262 "ICD10:Q76.3" +MONDO:0015262 "ICD10CM:Q76.3" MONDO:0017462 "SCTID:55379003" +MONDO:0017462 "ICD10CM:Q74.2" MONDO:0017462 "NCIT:C132080" MONDO:0017462 "Orphanet:295018" MONDO:0017462 "UMLS:C0265661" -MONDO:0017462 "ICD10:Q74.2" MONDO:0030465 "OMIM:619593" MONDO:0003019 "NCIT:C34939" +MONDO:0003019 "ICD10CM:E87.6" MONDO:0003019 "HP:0002900" MONDO:0003019 "DOID:4500" MONDO:0003019 "NCIT:C37974" @@ -56047,12 +54685,14 @@ MONDO:0003019 "SCTID:43339004" MONDO:0003019 "MESH:D007008" MONDO:0003019 "UMLS:C1514284" MONDO:0003019 "ICD9:276.8" -MONDO:0003019 "ICD10:E87.6" -MONDO:0019725 "ICD10:M32.9" -MONDO:0019725 "ICD10:M32.8" -MONDO:0019725 "ICD10:M32.1" -MONDO:0019725 "ICD10:M32.0" +MONDO:0019725 "ICD10CM:M32.9" +MONDO:0019725 "ICD10CM:M32.8" +MONDO:0019725 "ICD10CM:M32.1" +MONDO:0019725 "ICD10CM:M32.0" MONDO:0019725 "Orphanet:93552" +MONDO:0024575 "ICD10CM:O20-O29" +MONDO:0024575 "ICD10CM:O00-O9A" +MONDO:0024575 "ICD10CM:O10-O16" MONDO:0024575 "MESH:D011248" MONDO:0024575 "NCIT:C35169" MONDO:0024575 "SCTID:173300003" @@ -56061,9 +54701,9 @@ MONDO:0009271 "ICD9:759.89" MONDO:0009271 "MESH:C537799" MONDO:0009271 "DOID:0111266" MONDO:0009271 "UMLS:C0432255" -MONDO:0009271 "ICD10:Q82.8" MONDO:0009271 "OMIM:231070" MONDO:0009271 "Orphanet:2078" +MONDO:0009271 "ICD10CM:Q82.8" MONDO:0009271 "GARD:0000413" MONDO:0002132 "DOID:1863" MONDO:0002132 "NCIT:C3375" @@ -56079,25 +54719,25 @@ MONDO:0043881 "NCIT:C26813" MONDO:0043881 "EFO:1001888" MONDO:0043881 "UMLS:C0023439" CL:0002145 "FMA:70542" -MONDO:0005657 "ICD10:B44.1" -MONDO:0005657 "ICD10:B44.9" -MONDO:0005657 "NCIT:C2886" -MONDO:0005657 "UMLS:C0004030" -MONDO:0005657 "CSP:1988-4002" -MONDO:0005657 "DOID:13564" -MONDO:0005657 "EFO:0007157" -MONDO:0005657 "GARD:0005856" -MONDO:0005657 "ICD10:B44.0" -MONDO:0005657 "Orphanet:1163" -MONDO:0005657 "ICD10:B44.8" -MONDO:0005657 "OMIM:614079" -MONDO:0005657 "ICD10:B44" MONDO:0005657 "ICD9:117.3" -MONDO:0005657 "ICD10:B44.2" +MONDO:0005657 "DOID:13564" +MONDO:0005657 "MESH:D001228" +MONDO:0005657 "ICD10CM:B44" +MONDO:0005657 "CSP:1988-4002" MONDO:0005657 "SCTID:65553006" +MONDO:0005657 "UMLS:C0004030" +MONDO:0005657 "ICD10CM:B44.9" +MONDO:0005657 "OMIM:614079" +MONDO:0005657 "GARD:0005856" +MONDO:0005657 "ICD10CM:B44.2" +MONDO:0005657 "ICD10CM:B44.1" +MONDO:0005657 "ICD10CM:B44.7" +MONDO:0005657 "NCIT:C2886" MONDO:0005657 "MedDRA:10003488" -MONDO:0005657 "ICD10:B44.7" -MONDO:0005657 "MESH:D001228" +MONDO:0005657 "Orphanet:1163" +MONDO:0005657 "EFO:0007157" +MONDO:0005657 "ICD10CM:B44.8" +MONDO:0005657 "ICD10CM:B44.0" MONDO:0004403 "DOID:7933" MONDO:0004403 "UMLS:C1332997" MONDO:0004403 "NCIT:C5640" @@ -56106,7 +54746,6 @@ NCBITaxon:172148 "GC_ID:1" MONDO:0001237 "DOID:11241" MONDO:0001237 "UMLS:C1332328" MONDO:0001237 "NCIT:C5513" -MONDO:0004770 "ICD10:H05.20" MONDO:0004770 "NCIT:C87114" MONDO:0004770 "SCTID:18265008" MONDO:0004770 "UMLS:C0015300" @@ -56119,50 +54758,48 @@ MONDO:0021235 "UMLS:C0349575" MONDO:0021235 "NCIT:C4652" MONDO:0021235 "SCTID:277155005" MONDO:0016191 "Orphanet:209053" +MONDO:0012525 "DOID:0110080" +MONDO:0012525 "OMIM:610612" +MONDO:0012525 "GARD:0010489" +MONDO:0012525 "MESH:C565697" MONDO:0019391 "OMIM:603467" MONDO:0019391 "OMIM:227646" MONDO:0019391 "OMIM:600901" MONDO:0019391 "OMIMPS:227650" MONDO:0019391 "OMIM:610832" MONDO:0019391 "OMIM:614083" -MONDO:0019391 "ICD10:D61.09" MONDO:0019391 "OMIM:609053" MONDO:0019391 "Orphanet:84" MONDO:0019391 "DOID:13636" MONDO:0019391 "OMIM:614082" MONDO:0019391 "OMIM:300514" -MONDO:0019391 "OMIM:615272" MONDO:0019391 "OMIM:227650" +MONDO:0019391 "OMIM:615272" MONDO:0019391 "OMIM:227645" MONDO:0019391 "MedDRA:10055206" MONDO:0019391 "ICD9:284.09" MONDO:0019391 "SCTID:30575002" MONDO:0019391 "UMLS:C0015625" +MONDO:0019391 "ICD10CM:D61.0" MONDO:0019391 "NCIT:C62505" MONDO:0019391 "OMIM:616435" MONDO:0019391 "OMIM:613951" -MONDO:0019391 "ICD10:D61.0" MONDO:0019391 "GARD:0006425" MONDO:0019391 "OMIM:609054" MONDO:0019391 "MESH:D005199" MONDO:0019391 "OMIM:613390" -MONDO:0012525 "DOID:0110080" -MONDO:0012525 "ICD10:H35.5" -MONDO:0012525 "OMIM:610612" -MONDO:0012525 "GARD:0010489" -MONDO:0012525 "MESH:C565697" MONDO:0019220 "Orphanet:79171" MONDO:0019220 "UMLS:CN227587" MONDO:0019220 "UMLS:CN043592" MONDO:0000499 "Orphanet:415300" MONDO:0000499 "UMLS:C1852242" MONDO:0000499 "DOID:0050864" -MONDO:0016806 "ICD10:G24.8" +MONDO:0016806 "ICD10CM:G24.8" MONDO:0016806 "Orphanet:254851" MONDO:0016806 "UMLS:C4274074" MONDO:0016806 "SCTID:717054001" MONDO:0020469 "SCTID:733625003" -MONDO:0020469 "ICD10:Q98.8" +MONDO:0020469 "ICD10CM:Q98.8" MONDO:0020469 "GARD:0011985" MONDO:0020469 "Orphanet:99329" MONDO:0020469 "UMLS:C4518082" @@ -56179,7 +54816,7 @@ MONDO:0005187 "EFO:0002612" MONDO:0005187 "NCIT:C39291" MONDO:0005187 "UMLS:C1512508" MONDO:0016407 "UMLS:C0431694" -MONDO:0016407 "ICD10:Q60.4" +MONDO:0016407 "ICD10CM:Q60.4" MONDO:0016407 "GARD:0004066" MONDO:0016407 "DOID:0111142" MONDO:0016407 "Orphanet:2260" @@ -56190,17 +54827,14 @@ MONDO:0004898 "SCTID:59753003" MONDO:0004898 "UMLS:C0154896" MONDO:0004898 "ICD9:363.52" MONDO:0004898 "DOID:9842" -MONDO:0014706 "ICD10:Q82.8" MONDO:0014706 "DOID:0070131" MONDO:0014706 "OMIM:616603" MONDO:0014706 "UMLS:C4225268" MONDO:0015691 "EFO:1001467" MONDO:0015691 "MedDRA:10048643" -MONDO:0015691 "ICD10:D72.1" MONDO:0015691 "GARD:0002804" MONDO:0015691 "UMLS:C1540912" MONDO:0015691 "ICD9:288.3" -MONDO:0015691 "ICD10:D47.5" MONDO:0015691 "DOID:999" MONDO:0015691 "Orphanet:168956" MONDO:0015691 "NCIT:C27038" @@ -56222,7 +54856,6 @@ MONDO:0011513 "OMIM:605055" MONDO:0001760 "SCTID:1714005" MONDO:0001760 "DOID:13626" MONDO:0001760 "UMLS:C0155078" -MONDO:0001760 "ICD10:H16.13" MONDO:0001760 "NCIT:C118750" MONDO:0001760 "ICD9:370.24" MONDO:0009399 "MESH:C565494" @@ -56231,15 +54864,14 @@ MONDO:0009399 "OMIM:239350" MONDO:0030057 "OMIM:618914" MONDO:0015995 "GARD:0003800" MONDO:0015995 "UMLS:C2931505" -MONDO:0015995 "ICD10:M85.8" +MONDO:0015995 "ICD10CM:M85.8" MONDO:0015995 "GARD:0003690" MONDO:0015995 "Orphanet:1879" MONDO:0015995 "UMLS:CN200621" MONDO:0017011 "Orphanet:263793" -MONDO:0017011 "ICD10:Q99.8" +MONDO:0017011 "ICD10CM:Q99.8" MONDO:0012748 "MESH:C567504" MONDO:0012748 "OMIM:611884" -MONDO:0012748 "ICD10:Q34.8" MONDO:0012748 "DOID:0110605" MONDO:0012748 "UMLS:C2678473" MONDO:0009789 "OMIM:258660" @@ -56248,10 +54880,9 @@ MONDO:0007355 "MESH:C535971" MONDO:0007355 "GARD:0001440" MONDO:0007355 "Orphanet:1473" MONDO:0007355 "OMIM:120433" +MONDO:0007355 "ICD10CM:Q12.2" MONDO:0007355 "DOID:0111249" -MONDO:0007355 "ICD10:Q12.2" MONDO:0007531 "OMIM:130300" -MONDO:0011819 "ICD10:G11.2" MONDO:0011819 "GARD:0012365" MONDO:0011819 "MESH:C537198" MONDO:0011819 "OMIM:607346" @@ -56259,8 +54890,9 @@ MONDO:0011819 "Orphanet:98772" MONDO:0011819 "SCTID:719251009" MONDO:0011819 "DOID:0050970" MONDO:0011819 "MESH:C542540" +MONDO:0011819 "ICD10CM:G11.2" MONDO:0021664 "Orphanet:99079" -MONDO:0021664 "ICD10:Q25.4" +MONDO:0021664 "ICD10CM:Q25.4" MONDO:0010754 "Orphanet:3417" MONDO:0010754 "OMIM:314500" MONDO:0010754 "SCTID:733110004" @@ -56285,19 +54917,19 @@ MONDO:0005206 "EFO:0002890" MONDO:0005206 "NCIT:C9384" MONDO:0005206 "OMIM:144700" MONDO:0005206 "DOID:4451" +MONDO:0008387 "ICD10CM:D31.1" MONDO:0008387 "SCTID:723499000" -MONDO:0008387 "OMIM:180550" MONDO:0008387 "MESH:C535684" +MONDO:0008387 "OMIM:180550" MONDO:0008387 "UMLS:C1867155" -MONDO:0008387 "ICD10:D31.1" MONDO:0008387 "DOID:0111548" MONDO:0008387 "Orphanet:91481" MONDO:0008387 "GARD:0009696" MONDO:0004490 "DOID:8187" MONDO:0014016 "DOID:0110801" -MONDO:0014016 "ICD10:G11.4" MONDO:0014016 "OMIM:615031" MONDO:0014016 "UMLS:C3542549" +MONDO:0014016 "ICD10CM:G11.4" MONDO:0014016 "Orphanet:320385" MONDO:0003293 "DOID:5136" MONDO:0003293 "NCIT:C5660" @@ -56316,19 +54948,18 @@ MONDO:0013257 "OMIM:613407" MONDO:0015112 "Orphanet:101937" MONDO:0014203 "OMIM:615482" MONDO:0014203 "DOID:0110615" -MONDO:0014203 "ICD10:Q34.8" MONDO:0014203 "UMLS:C3809641" MONDO:0010073 "SCTID:719202006" MONDO:0010073 "MESH:C564796" MONDO:0010073 "Orphanet:163665" MONDO:0010073 "OMIM:271620" -MONDO:0010073 "ICD10:Q77.7" MONDO:0010073 "UMLS:C1849053" +MONDO:0010073 "ICD10CM:Q77.7" MONDO:0017181 "HP:0012459" -MONDO:0017181 "ICD10:G44.8" MONDO:0017181 "MESH:D051270" MONDO:0017181 "Orphanet:276429" MONDO:0017181 "ICD9:339.81" +MONDO:0017181 "ICD10CM:G44.8" MONDO:0017181 "GARD:0010796" MONDO:0017181 "SCTID:122711000119109" NCBITaxon:689831 "GC_ID:1" @@ -56342,12 +54973,12 @@ MONDO:0007251 "OMIM:602196" MONDO:0007251 "DOID:0050463" MONDO:0007251 "ICD9:733.29" MONDO:0007251 "UMLS:C1861922" +MONDO:0007251 "ICD10CM:Q87.1" MONDO:0007251 "GARD:0010027" MONDO:0007251 "SCTID:74928006" MONDO:0007251 "OMIM:114290" MONDO:0007251 "OMIM:211990" MONDO:0007251 "UMLS:C1861923" -MONDO:0007251 "ICD10:Q87.1" MONDO:0007251 "Orphanet:140" MONDO:0007251 "MESH:D055036" MONDO:0007251 "NCIT:C84609" @@ -56359,9 +54990,8 @@ MONDO:0015470 "OMIM:615373" MONDO:0015470 "OMIM:613740" MONDO:0015470 "OMIM:611880" MONDO:0015470 "OMIM:615396" -MONDO:0015470 "OMIM:601494" MONDO:0015470 "OMIM:613172" -MONDO:0015470 "ICD10:I42.0" +MONDO:0015470 "OMIM:601494" MONDO:0015470 "OMIM:611615" MONDO:0015470 "OMIM:613881" MONDO:0015470 "OMIM:611407" @@ -56387,6 +55017,7 @@ MONDO:0015470 "OMIM:613642" MONDO:0015470 "OMIM:615916" MONDO:0015470 "OMIM:615235" MONDO:0015470 "OMIM:613426" +MONDO:0015470 "ICD10CM:I42.0" MONDO:0015470 "OMIM:607482" MONDO:0015470 "OMIM:608569" MONDO:0015470 "OMIM:615248" @@ -56400,30 +55031,29 @@ MONDO:0011475 "OMIM:604563" MONDO:0011475 "UMLS:C1858278" MONDO:0011475 "DOID:0110190" MONDO:0011475 "MESH:C535421" +MONDO:0011475 "ICD10CM:G60.0" MONDO:0011475 "GARD:0009200" MONDO:0011475 "SCTID:715800000" MONDO:0011475 "Orphanet:99956" -MONDO:0011475 "ICD10:G60.0" MONDO:0014698 "OMIM:616577" MONDO:0014698 "UMLS:C4225276" MONDO:0014698 "Orphanet:457351" MONDO:0020658 "DOID:6845" -MONDO:0013675 "ICD10:E88.8" MONDO:0013675 "OMIM:614299" MONDO:0013675 "UMLS:C3280378" MONDO:0013675 "Orphanet:401874" MONDO:0013675 "Orphanet:289573" +MONDO:0013675 "ICD10CM:E88.8" MONDO:0013675 "DOID:0080134" MONDO:0012421 "UMLS:C1857809" MONDO:0012421 "OMIM:610154" -MONDO:0012421 "ICD10:H90.3" MONDO:0012421 "DOID:0110501" MONDO:0012421 "MESH:C565716" MONDO:0001394 "ICD9:207.1" MONDO:0001394 "DOID:11868" MONDO:0100186 "UMLS:C2673535" MONDO:0100186 "SCTID:23447005" -MONDO:0100186 "ICD10:E70.1" +MONDO:0100186 "ICD10CM:E70.1" MONDO:0100186 "NCIT:C141442" MONDO:0100186 "UMLS:C0268467" MONDO:0100186 "OMIM:233910" @@ -56437,7 +55067,6 @@ MONDO:0044309 "OMIM:617408" MONDO:0002750 "DOID:3710" MONDO:0002750 "UMLS:C1511193" MONDO:0002750 "NCIT:C39837" -MONDO:0018044 "ICD10:F51.1" MONDO:0018044 "Orphanet:33208" MONDO:0018044 "NCIT:C116343" MONDO:0018044 "MESH:D020177" @@ -56445,7 +55074,6 @@ MONDO:0018044 "GARD:0008737" MONDO:0018044 "SCTID:3731000119107" MONDO:0018044 "UMLS:C0751757" MONDO:0012527 "Orphanet:98993" -MONDO:0012527 "ICD10:Q12.0" MONDO:0012527 "DOID:0110249" MONDO:0012527 "MESH:C535344" MONDO:0012527 "OMIM:610623" @@ -56453,7 +55081,7 @@ MONDO:0012527 "GARD:0010228" MONDO:0012527 "Orphanet:91492" MONDO:0007134 "SCTID:720747002" MONDO:0007134 "GARD:0004083" -MONDO:0007134 "ICD10:Q84.6" +MONDO:0007134 "ICD10CM:Q84.6" MONDO:0007134 "Orphanet:1487" MONDO:0007134 "MESH:C537766" MONDO:0007134 "UMLS:C1862841" @@ -56463,36 +55091,35 @@ MONDO:0010463 "Orphanet:163966" MONDO:0010463 "UMLS:C3275476" MONDO:0010463 "OMIM:300863" MONDO:0010463 "SCTID:719837003" -MONDO:0010463 "ICD10:Q87.8" +MONDO:0010463 "ICD10CM:Q87.8" MONDO:0013862 "OMIM:614699" MONDO:0013862 "UMLS:C3542922" MONDO:0013862 "Orphanet:1572" MONDO:0016052 "MedDRA:10003747" -MONDO:0016052 "ICD10:F84.1" MONDO:0016052 "SCTID:231536004" MONDO:0016052 "Orphanet:199627" MONDO:0016052 "ICD9:299.80" MONDO:0019569 "NCIT:C135725" MONDO:0019569 "UMLS:C0751039" MONDO:0019569 "Orphanet:191" -MONDO:0019569 "ICD10:Q87.8" MONDO:0019569 "Orphanet:90324" MONDO:0019569 "Orphanet:90322" -MONDO:0019569 "GARD:0001415" +MONDO:0019569 "ICD10CM:Q87.8" MONDO:0019569 "OMIM:133540" +MONDO:0019569 "GARD:0001415" MONDO:0019569 "Orphanet:90321" MONDO:0019569 "OMIM:216400" MONDO:0010569 "GARD:0012526" MONDO:0010569 "UMLS:C1839909" MONDO:0010569 "Orphanet:275543" MONDO:0010569 "Orphanet:1497" -MONDO:0010569 "ICD10:Q04.8" +MONDO:0010569 "ICD10CM:Q04.8" MONDO:0010569 "OMIM:304100" MONDO:0010569 "MESH:C564115" -MONDO:0017285 "ICD10:Q55.8" MONDO:0017285 "GARD:0004273" MONDO:0017285 "MESH:C536650" MONDO:0017285 "Orphanet:2842" +MONDO:0017285 "ICD10CM:Q55.8" MONDO:0017285 "MedDRA:10067287" MONDO:0017285 "SCTID:312005008" MONDO:0017285 "UMLS:C1868854" @@ -56504,17 +55131,15 @@ MONDO:0008166 "OMIM:166910" MONDO:0018231 "Orphanet:364531" MONDO:0005352 "ICD9:312.9" MONDO:0005352 "NCIT:C89329" -MONDO:0005352 "ICD10:F91.9" MONDO:0005352 "SCTID:430909002" MONDO:0005352 "ICD9:312.89" MONDO:0005352 "MESH:D019955" MONDO:0005352 "DOID:12995" MONDO:0005352 "EFO:0004216" -MONDO:0005352 "ICD10:F91" +MONDO:0014290 "ICD10CM:G23.0" MONDO:0014290 "SCTID:732264002" MONDO:0014290 "UMLS:C3810230" MONDO:0014290 "OMIM:615643" -MONDO:0014290 "ICD10:G23.0" MONDO:0014290 "GARD:0012571" MONDO:0014290 "Orphanet:397725" MONDO:0014290 "DOID:0110740" @@ -56522,40 +55147,39 @@ MONDO:0010346 "OMIM:300504" HP:0000001 "UMLS:C0444868" MONDO:0100210 "OMIMPS:245590" MONDO:0020411 "Orphanet:99071" -MONDO:0020411 "ICD10:Q20.8" +MONDO:0020411 "ICD10CM:Q20.8" MONDO:0019884 "MESH:C538087" MONDO:0019884 "SCTID:718689000" MONDO:0019884 "Orphanet:96102" -MONDO:0019884 "ICD10:Q92.3" MONDO:0021079 "NCIT:C6283" MONDO:0022025 "MESH:C537083" MONDO:0022025 "GARD:0000954" MONDO:0022025 "UMLS:C2931419" -MONDO:0018687 "ICD10:G12.2" MONDO:0018687 "ICD9:335.21" MONDO:0018687 "UMLS:C0917981" +MONDO:0018687 "ICD10CM:G12.2" MONDO:0018687 "DOID:318" MONDO:0018687 "EFO:0008864" -MONDO:0018687 "ICD10:G12.21" +MONDO:0018687 "ICD10CM:G12.21" MONDO:0018687 "SCTID:88923002" MONDO:0018687 "NCIT:C85027" MONDO:0018687 "Orphanet:454706" MONDO:0018687 "MESH:D009134" MONDO:0009568 "Orphanet:101001" -MONDO:0009568 "ICD10:G11.4" MONDO:0009568 "SCTID:764734003" MONDO:0009568 "DOID:0060245" MONDO:0009568 "MESH:C565409" MONDO:0009568 "UMLS:C1855346" MONDO:0009568 "OMIM:248900" +MONDO:0009568 "ICD10CM:G11.4" MONDO:0033683 "Orphanet:508542" -MONDO:0016273 "ICD10:C54.1" -MONDO:0016273 "ICD10:C54.0" -MONDO:0016273 "ICD10:C54.8" +MONDO:0016273 "ICD10CM:C54.2" +MONDO:0016273 "ICD10CM:C54.8" +MONDO:0016273 "ICD10CM:C54.1" MONDO:0016273 "UMLS:CN201062" -MONDO:0016273 "ICD10:C54.2" MONDO:0016273 "Orphanet:213751" -MONDO:0016273 "ICD10:C54.3" +MONDO:0016273 "ICD10CM:C54.0" +MONDO:0016273 "ICD10CM:C54.3" MONDO:0006754 "DOID:13185" MONDO:0006754 "UMLS:C0917875" MONDO:0006754 "MESH:D045723" @@ -56585,23 +55209,22 @@ MONDO:0003143 "NCIT:C4488" MONDO:0003143 "MESH:D000794" MONDO:0003143 "CSP:2007-0683" MONDO:0003143 "DOID:479" +MONDO:0015301 "ICD10EXP:L99.0*" +MONDO:0015301 "ICD10EXP:E85.4+" MONDO:0015301 "SCTID:282834007" MONDO:0015301 "Orphanet:137807" MONDO:0015301 "MedDRA:10011659" MONDO:0015301 "UMLS:C0268397" MONDO:0015301 "DOID:0050639" -MONDO:0015301 "ICD10:E85.4+" MONDO:0015301 "MESH:C562642" -MONDO:0015301 "ICD10:L99.0*" MONDO:0015301 "GARD:0000132" CL:0000864 "FMA:84644" CL:0000864 "FMA:84642" +MONDO:0017501 "ICD10CM:Q72.23" MONDO:0017501 "Orphanet:295099" -MONDO:0017501 "ICD10:Q72.23" -MONDO:0017501 "ICD10:Q72.2" -MONDO:0002342 "ICD10:M94.20" +MONDO:0017501 "ICD10CM:Q72.2" +MONDO:0002342 "ICD10CM:M94.2" MONDO:0002342 "ICD9:733.92" -MONDO:0002342 "ICD10:M94.2" MONDO:0002342 "DOID:2557" MONDO:0002342 "MESH:D002357" MONDO:0002342 "SCTID:63198006" @@ -56612,9 +55235,9 @@ MONDO:0100431 "EFO:0005296" MONDO:0100431 "MESH:D020326" MONDO:0100431 "SCTID:56097005" MONDO:0100431 "NCIT:C117004" +MONDO:0017675 "ICD10CM:Q82.8" MONDO:0017675 "Orphanet:307967" MONDO:0017675 "SCTID:402773000" -MONDO:0017675 "ICD10:Q82.8" MONDO:0017675 "DOID:0060361" MONDO:0017675 "UMLS:C4024851" MONDO:0043075 "GARD:0000349" @@ -56630,19 +55253,18 @@ MONDO:0000707 "SCTID:51290000" MONDO:0000707 "UMLS:C0267532" MONDO:0000707 "ICD9:558.9" MONDO:0000707 "DOID:0060187" -MONDO:0000707 "ICD10:K52" MONDO:0014665 "UMLS:C4225306" MONDO:0014665 "DOID:0110178" -MONDO:0014665 "ICD10:G60.0" +MONDO:0014665 "ICD10CM:G60.0" MONDO:0014665 "OMIM:616491" MONDO:0014665 "Orphanet:447964" MONDO:0012391 "Orphanet:1947" MONDO:0012391 "OMIM:600143" -MONDO:0012391 "ICD10:E75.4" MONDO:0012391 "GARD:0004010" MONDO:0012391 "OMIM:610003" MONDO:0012391 "DOID:0110724" MONDO:0012391 "GARD:0002163" +MONDO:0012391 "ICD10CM:E75.4" NCBITaxon:157540 "GC_ID:1" MONDO:0016742 "UMLS:CN201989" MONDO:0016742 "Orphanet:252021" @@ -56653,34 +55275,32 @@ NCBITaxon:2038 "PMID:1377787" NCBITaxon:2038 "PMID:11491348" NCBITaxon:2038 "GC_ID:11" MONDO:0001583 "DOID:12785" -MONDO:0001583 "ICD10:G63.2" MONDO:0001583 "MESH:D003929" MONDO:0001583 "SCTID:49455004" MONDO:0001583 "ICD9:357.2" MONDO:0001583 "UMLS:C0271680" MONDO:0017979 "MESH:D056735" -MONDO:0017979 "ICD10:D89.82" MONDO:0017979 "OMIM:601859" MONDO:0017979 "MedDRA:10069521" MONDO:0017979 "SCTID:702444009" MONDO:0017979 "UMLS:C1328840" MONDO:0017979 "CSP:1560-5548" MONDO:0017979 "OMIM:615559" -MONDO:0017979 "ICD10:D47.9" MONDO:0017979 "GARD:0008686" MONDO:0017979 "DOID:6688" MONDO:0017979 "ICD9:279.41" MONDO:0017979 "Orphanet:3261" MONDO:0017979 "OMIM:603909" MONDO:0017979 "NCIT:C37864" +MONDO:0017979 "ICD10CM:D47.9" MONDO:0024868 "UMLS:C1334717" MONDO:0024868 "NCIT:C9276" MONDO:0003783 "MESH:D008231" MONDO:0003783 "ICD9:288.51" MONDO:0003783 "HP:0001888" MONDO:0003783 "UMLS:C0024312" -MONDO:0003783 "ICD10:D72.810" MONDO:0003783 "ICD9:288.8" +MONDO:0003783 "ICD10CM:D72.810" MONDO:0003783 "DOID:614" MONDO:0003783 "SCTID:48813009" MONDO:0003612 "UMLS:C1519870" @@ -56689,8 +55309,8 @@ MONDO:0003612 "UMLS:C0864950" MONDO:0003612 "NCIT:C126498" MONDO:0003612 "NCIT:C40133" NCBITaxon:11071 "GC_ID:1" +MONDO:0020131 "ICD10CM:Q04.3" MONDO:0020131 "Orphanet:98516" -MONDO:0020131 "ICD10:Q04.3" MONDO:0010242 "UMLS:C1848171" MONDO:0010242 "GARD:0002293" MONDO:0010242 "MESH:C537921" @@ -56704,30 +55324,28 @@ MONDO:0020508 "UMLS:C0039144" MONDO:0020508 "UMLS:C1299627" MONDO:0020508 "Orphanet:99856" MONDO:0020508 "SCTID:371076006" -MONDO:0020508 "ICD10:Q06.4" +MONDO:0020508 "ICD10CM:Q06.4" MONDO:0030088 "OMIM:618857" MONDO:0015730 "NCIT:C37865" MONDO:0015730 "Orphanet:1711" MONDO:0015730 "GARD:0005317" MONDO:0015730 "UMLS:C1096168" -MONDO:0015730 "ICD10:Q92.1" MONDO:0015730 "MESH:C538044" MONDO:0015730 "SCTID:764622004" +MONDO:0015730 "ICD10CM:Q92.1" MONDO:0004468 "UMLS:C1332261" MONDO:0004468 "NCIT:C7477" MONDO:0004468 "DOID:8119" MONDO:0004468 "SCTID:236811000119101" -MONDO:0007030 "ICD10:Q87.1" MONDO:0007030 "Orphanet:915" MONDO:0007030 "MESH:C535331" MONDO:0007030 "OMIM:100050" MONDO:0007030 "DOID:6683" MONDO:0007030 "SCTID:14921002" -MONDO:0001654 "SCTID:363453008" MONDO:0001654 "NCIT:C3559" +MONDO:0001654 "SCTID:363453008" MONDO:0001654 "UMLS:C0153603" MONDO:0001654 "ICD9:187.6" -MONDO:0001654 "ICD10:C63.1" MONDO:0001654 "DOID:13169" MONDO:0007557 "SCTID:2689001" MONDO:0007557 "DOID:0111347" @@ -56738,9 +55356,9 @@ MONDO:0009460 "UMLS:C1855738" MONDO:0009460 "MESH:C565466" MONDO:0009460 "OMIM:243050" CL:0000003 "CARO:0000013" -MONDO:0011683 "ICD10:E70.3" MONDO:0011683 "DOID:0070098" MONDO:0011683 "Orphanet:79435" +MONDO:0011683 "ICD10CM:E70.3" MONDO:0011683 "SCTID:715632003" MONDO:0011683 "OMIM:606574" MONDO:0011683 "UMLS:C1847836" @@ -56759,7 +55377,6 @@ MONDO:0005072 "OMIM:613016" MONDO:0005072 "NCIT:C3270" MONDO:0005072 "OMIM:613013" MONDO:0005072 "Orphanet:635" -MONDO:0005072 "ICD10:C74.9" MONDO:0005072 "MESH:D009447" MONDO:0005072 "UMLS:C0027819" MONDO:0005072 "OMIM:613014" @@ -56772,6 +55389,7 @@ MONDO:0005072 "OMIM:256700" MONDO:0005072 "SCTID:432328008" MONDO:0005072 "DOID:769" MONDO:0005072 "UMLS:CN205405" +MONDO:0005072 "ICD10CM:C74.9" MONDO:0005072 "GARD:0007185" MONDO:0005072 "OMIM:616792" MONDO:0005072 "EFO:0000621" @@ -56792,8 +55410,8 @@ MONDO:0012265 "UMLS:C1836256" MONDO:0012265 "Orphanet:275555" MONDO:0012265 "OMIM:609403" MONDO:0030474 "OMIM:619607" -MONDO:0019734 "ICD10:M33.2" MONDO:0019734 "Orphanet:93568" +MONDO:0019734 "ICD10CM:M33.2" MONDO:0019734 "EFO:1001988" MONDO:0019734 "UMLS:C3826988" MONDO:0019734 "SCTID:738526005" @@ -56804,7 +55422,7 @@ MONDO:0003332 "DOID:5208" MONDO:0003332 "UMLS:C0334525" MONDO:0003332 "ICDO:9090/3" MONDO:0017454 "Orphanet:2950" -MONDO:0017454 "ICD10:Q74.8" +MONDO:0017454 "ICD10CM:Q74.8" MONDO:0017454 "UMLS:CN203197" MONDO:0017454 "OMIM:174500" MONDO:0004575 "MESH:D002796" @@ -56812,13 +55430,8 @@ MONDO:0004575 "DOID:8456" MONDO:0004575 "ICD9:266.2" MONDO:0004575 "UMLS:C0008412" MONDO:0004575 "SCTID:238113006" -MONDO:0018537 "ICD10:C24.1" MONDO:0018537 "SCTID:766978002" -MONDO:0018537 "ICD10:C23" -MONDO:0018537 "ICD10:C24.0" MONDO:0018537 "Orphanet:424996" -MONDO:0018537 "ICD10:C24.9" -MONDO:0018537 "ICD10:C24.8" MONDO:0018537 "UMLS:CN237538" HP:0003549 "UMLS:C4025596" MONDO:0008331 "ICD9:377.24" @@ -56842,13 +55455,13 @@ MONDO:0041182 "SCTID:238525001" MONDO:0041182 "UMLS:C0031736" MONDO:0012580 "OMIM:300770" MONDO:0012580 "OMIM:265120" +MONDO:0012580 "ICD10CM:J84.0" MONDO:0012580 "GARD:0004582" MONDO:0012580 "Orphanet:217566" MONDO:0012580 "OMIM:614370" MONDO:0012580 "Orphanet:264675" MONDO:0012580 "UMLS:C2931035" MONDO:0012580 "SCTID:707442002" -MONDO:0012580 "ICD10:J84.0" MONDO:0012580 "MESH:C535832" MONDO:0012580 "OMIMPS:265120" MONDO:0015496 "MESH:C531735" @@ -56857,7 +55470,6 @@ MONDO:0015496 "MedDRA:10025391" MONDO:0015496 "GARD:0003342" MONDO:0015496 "MESH:D008260" MONDO:0015496 "Orphanet:156207" -MONDO:0015496 "ICD10:Q38.2" MONDO:0003215 "DOID:4934" MONDO:0003215 "NCIT:C6800" MONDO:0003215 "UMLS:C1334561" @@ -56871,21 +55483,19 @@ NCBITaxon:1716 "PMID:7547293" NCBITaxon:1716 "PMID:8186090" NCBITaxon:1716 "PMID:10425754" MONDO:0009076 "OMIM:220290" -MONDO:0009076 "ICD10:H90.3" MONDO:0009076 "DOID:0110475" MONDO:0009076 "GARD:0001697" MONDO:0009076 "NCIT:C129022" MONDO:0009076 "MESH:C567134" MONDO:0030506 "OMIM:619665" -MONDO:0018036 "ICD10:D81.4" +MONDO:0018036 "ICD10CM:D81.4" MONDO:0018036 "Orphanet:331220" MONDO:0002203 "ICD9:564.0" +MONDO:0002203 "ICD10CM:K59.0" MONDO:0002203 "NCIT:C37930" MONDO:0002203 "ICD9:564.00" MONDO:0002203 "MESH:D003248" -MONDO:0002203 "ICD10:K59.0" MONDO:0002203 "SCTID:14760008" -MONDO:0002203 "ICD10:K59.00" MONDO:0002203 "DOID:2089" MONDO:0002203 "HP:0002019" MONDO:0001433 "SCTID:25658005" @@ -56895,22 +55505,19 @@ MONDO:0001433 "MESH:D014623" MONDO:0001433 "NCIT:C26910" MONDO:0007336 "DOID:0110213" MONDO:0007336 "UMLS:CN234898" -MONDO:0007336 "ICD10:Q35.3" -MONDO:0007336 "ICD10:Q35.5" MONDO:0007336 "OMIM:119540" +MONDO:0007336 "ICD10CM:Q35.1" MONDO:0007336 "Orphanet:2014" -MONDO:0007336 "ICD10:Q35.7" MONDO:0007336 "GARD:0001896" -MONDO:0007336 "ICD10:Q35.9" -MONDO:0007336 "ICD10:Q35.1" +MONDO:0007336 "ICD10CM:Q35.3" MONDO:0018903 "MedDRA:10039483" MONDO:0018903 "ICD9:136.5" MONDO:0018903 "DOID:9640" MONDO:0018903 "Orphanet:54368" MONDO:0018903 "MESH:D012523" +MONDO:0018903 "ICD10CM:A07.8" MONDO:0018903 "UMLS:C0036231" MONDO:0018903 "SCTID:88905005" -MONDO:0018903 "ICD10:A07.8" MONDO:0018903 "EFO:0007476" MONDO:0013888 "OMIM:614782" MONDO:0013888 "DOID:0111431" @@ -56925,39 +55532,38 @@ MONDO:0019064 "SCTID:39912006" MONDO:0019064 "UMLS:C2931355" MONDO:0019064 "MedDRA:10019903" MONDO:0019064 "ICD9:334.1" +MONDO:0019064 "ICD10CM:G11.4" MONDO:0019064 "NCIT:C140267" MONDO:0019064 "MESH:D015419" MONDO:0019064 "DOID:2476" MONDO:0019064 "GARD:0006637" MONDO:0019064 "OMIMPS:303350" -MONDO:0019064 "ICD10:G11.4" MONDO:0019064 "SCTID:76043009" MONDO:0016911 "GARD:0001738" -MONDO:0016911 "ICD10:Q93.5" MONDO:0016911 "NCIT:C36497" MONDO:0016911 "Orphanet:262101" +MONDO:0016911 "ICD10CM:Q93.5" MONDO:0016911 "MESH:C535449" MONDO:0018390 "Orphanet:399771" -MONDO:0018390 "ICD10:N46" +MONDO:0018390 "ICD10CM:N46" MONDO:0018390 "UMLS:CN227338" CL:1000434 "FMA:70555" MONDO:0005649 "ICD9:540-543.99" MONDO:0005649 "NCIT:C35145" MONDO:0005649 "SCTID:74400008" MONDO:0005649 "UMLS:C0003615" -MONDO:0005649 "ICD10:K37" MONDO:0005649 "EFO:0007149" -MONDO:0005649 "ICD9:541" MONDO:0005649 "DOID:8337" +MONDO:0005649 "ICD9:541" MONDO:0005649 "MESH:D001064" MONDO:0009100 "OMIM:222100" NCBITaxon:34104 "PMID:26438009" NCBITaxon:34104 "PMID:24912824" NCBITaxon:34104 "PMID:25858245" NCBITaxon:34104 "GC_ID:11" -MONDO:0018257 "ICD10:Q06.4" MONDO:0018257 "Orphanet:370034" MONDO:0018257 "UMLS:CN204832" +MONDO:0018257 "ICD10CM:Q06.4" MONDO:0000421 "DOID:0050721" MONDO:0006324 "NCIT:C53557" MONDO:0006324 "EFO:1000402" @@ -56971,7 +55577,7 @@ MONDO:0014953 "Orphanet:542306" MONDO:0014953 "OMIM:617173" MONDO:0014953 "UMLS:C4310682" MONDO:0019251 "Orphanet:79215" -MONDO:0019251 "ICD10:E77.1" +MONDO:0019251 "ICD10CM:E77.1" MONDO:0019337 "EFO:1000673" MONDO:0019337 "UMLS:CN206006" MONDO:0019337 "DOID:8502" @@ -56997,7 +55603,6 @@ MONDO:0006292 "SCTID:109378008" MONDO:0006292 "EFO:1000355" MONDO:0006292 "MESH:C562839" MONDO:0006292 "UMLS:C0345967" -MONDO:0006292 "ICD10:C45.0" MONDO:0006292 "NCIT:C4456" MONDO:0006292 "ICDO:9050/3" MONDO:0006292 "Orphanet:50251" @@ -57006,8 +55611,8 @@ MONDO:0001823 "SCTID:36083008" MONDO:0001823 "MESH:D012804" MONDO:0001823 "NCIT:C62244" MONDO:0001823 "Orphanet:166282" +MONDO:0001823 "ICD10CM:I49.5" MONDO:0001823 "DOID:13884" -MONDO:0001823 "ICD10:I49.5" MONDO:0004007 "DOID:6839" MONDO:0004007 "UMLS:C1334631" MONDO:0004007 "NCIT:C27942" @@ -57022,20 +55627,20 @@ MONDO:0006207 "UMLS:C1517117" MONDO:0006207 "DOID:1970" MONDO:0006207 "EFO:1000252" MONDO:0007765 "MESH:C564168" +MONDO:0007765 "ICD10CM:M85.2" MONDO:0007765 "OMIM:144755" MONDO:0007765 "HP:0005890" -MONDO:0007765 "ICD10:M85.2" MONDO:0007765 "Orphanet:443098" MONDO:0014375 "OMIM:615863" MONDO:0014375 "Orphanet:329242" -MONDO:0014375 "ICD10:P78.3" +MONDO:0014375 "ICD10CM:P78.3" MONDO:0014375 "UMLS:C4014516" MONDO:0014375 "DOID:0060778" MONDO:0009321 "UMLS:C1856197" MONDO:0009321 "Orphanet:2110" +MONDO:0009321 "ICD10CM:Q74.2" MONDO:0009321 "GARD:0003118" MONDO:0009321 "OMIM:234280" -MONDO:0009321 "ICD10:Q74.2" MONDO:0009321 "MESH:C536885" MONDO:0020602 "DOID:0060248" MONDO:0020602 "OMIM:312870" @@ -57043,12 +55648,12 @@ HP:0002414 "Fyler:4157" HP:0002414 "MSH:D016135" HP:0002414 "UMLS:C0080178" HP:0002414 "SNOMEDCT_US:67531005" -MONDO:0014212 "ICD10:E72.1" MONDO:0014212 "Orphanet:833" MONDO:0014212 "DOID:0111166" MONDO:0014212 "Orphanet:99732" MONDO:0014212 "Orphanet:308400" MONDO:0014212 "OMIM:615501" +MONDO:0014212 "ICD10CM:E72.1" MONDO:0014212 "MESH:C565374" MONDO:0014212 "UMLS:C1854990" MONDO:0014212 "PMID:11095995" @@ -57056,9 +55661,10 @@ MONDO:0004163 "NCIT:C39844" MONDO:0004163 "DOID:7244" MONDO:0004163 "UMLS:C1511207" MONDO:0016358 "SCTID:298285004" -MONDO:0016358 "ICD10:M34.1" MONDO:0016358 "GARD:0001053" MONDO:0016358 "Orphanet:220402" +MONDO:0016358 "ICD10CM:M34.1" +MONDO:0009700 "ICD10CM:Q87.0" MONDO:0009700 "ICD9:359.89" MONDO:0009700 "OMIM:254940" MONDO:0009700 "DOID:0080194" @@ -57066,24 +55672,23 @@ MONDO:0009700 "GARD:0003889" MONDO:0009700 "Orphanet:1358" MONDO:0009700 "UMLS:C1850746" MONDO:0009700 "MESH:C536102" -MONDO:0009700 "ICD10:Q87.0" MONDO:0009700 "SCTID:429753001" MONDO:0020218 "Orphanet:98633" MONDO:0020218 "SCTID:251730004" MONDO:0017714 "UMLS:C0268635" MONDO:0017714 "Orphanet:309120" MONDO:0017714 "SCTID:82319005" -MONDO:0017714 "ICD10:E71.3" +MONDO:0017714 "ICD10CM:E71.3" MONDO:0032850 "DOID:0111675" MONDO:0032850 "OMIM:618652" MONDO:0015440 "SCTID:765488003" +MONDO:0015440 "ICD10CM:Q93.2" MONDO:0015440 "NCIT:C121985" MONDO:0015440 "Orphanet:1448" -MONDO:0015440 "ICD10:Q93.2" MONDO:0015440 "GARD:0006095" MONDO:0015440 "MESH:C537763" MONDO:0019182 "Orphanet:77828" -MONDO:0019182 "ICD10:E66.8" +MONDO:0019182 "ICD10CM:E66.8" MONDO:0019182 "OMIM:601665" MONDO:0024363 "ICD9:379.59" MONDO:0024363 "SCTID:192004002" @@ -57110,8 +55715,8 @@ MONDO:0001153 "ICD9:302.50" MONDO:0001153 "MESH:D000068116" MONDO:0001153 "DOID:10919" MONDO:0001153 "SCTID:93461009" +MONDO:0016881 "ICD10CM:Q93.5" MONDO:0016881 "Orphanet:261841" -MONDO:0016881 "ICD10:Q93.5" MONDO:0003996 "MESH:D001480" MONDO:0003996 "UMLS:C0004782" MONDO:0003996 "DOID:679" @@ -57132,18 +55737,18 @@ MONDO:0008136 "GARD:0008419" MONDO:0008136 "UMLS:C4510723" MONDO:0008136 "UMLS:C1833797" MONDO:0008136 "OMIM:165550" +MONDO:0008136 "ICD10CM:H47.0" MONDO:0008136 "SCTID:724999003" -MONDO:0008136 "ICD10:H47.0" MONDO:0008136 "Orphanet:137902" MONDO:0008136 "DOID:0111531" MONDO:0009694 "UMLS:C0398595" MONDO:0009694 "OMIM:254600" MONDO:0009694 "Orphanet:2587" MONDO:0009694 "ICD9:288.8" +MONDO:0009694 "ICD10CM:E80.3" MONDO:0009694 "GARD:0003868" MONDO:0009694 "SCTID:234433009" MONDO:0009694 "MESH:C562864" -MONDO:0009694 "ICD10:E80.3" MONDO:0017127 "Orphanet:271832" MONDO:0017127 "UMLS:CN202526" MONDO:0018201 "UMLS:CN204711" @@ -57152,18 +55757,17 @@ MONDO:0018201 "UMLS:C0262963" MONDO:0018201 "NCIT:C3918" MONDO:0018201 "GARD:0009325" MONDO:0001036 "DOID:10443" -MONDO:0001036 "ICD10:H20.05" MONDO:0001036 "ICD9:364.05" MONDO:0001036 "SCTID:87807004" MONDO:0001036 "NCIT:C50593" MONDO:0001036 "UMLS:C0020641" MONDO:0002594 "MESH:D045908" +MONDO:0002594 "ICD10CM:B04" MONDO:0002594 "SCTID:359814004" MONDO:0002594 "GARD:0010722" MONDO:0002594 "NCIT:C128421" MONDO:0002594 "DOID:3292" MONDO:0002594 "ICD9:136.8" -MONDO:0002594 "ICD10:B04" MONDO:0002594 "UMLS:C0276180" MONDO:0002594 "ICD9:059.01" MONDO:0037737 "NCIT:C126357" @@ -57190,14 +55794,14 @@ NCBITaxon:1113537 "GC_ID:11" NCBITaxon:1113537 "PMID:10319462" NCBITaxon:1113537 "PMID:21048221" MONDO:0015169 "SCTID:716277000" -MONDO:0015169 "ICD10:E74.3" +MONDO:0015169 "ICD10CM:E74.3" MONDO:0015169 "UMLS:C4275068" MONDO:0015169 "Orphanet:103907" MONDO:0009577 "Orphanet:2479" MONDO:0009577 "GARD:0003448" MONDO:0009577 "MESH:C536143" +MONDO:0009577 "ICD10CM:Q87.8" MONDO:0009577 "UMLS:C0796086" -MONDO:0009577 "ICD10:Q87.8" MONDO:0009577 "SCTID:733522005" MONDO:0009577 "OMIM:249310" MONDO:0005157 "ONCOTREE:LYMPH" @@ -57209,28 +55813,26 @@ MONDO:0005157 "MESH:D016403" NCBITaxon:548681 "GC_ID:1" MONDO:0005814 "NCIT:C4572" MONDO:0005814 "EFO:0007330" -MONDO:0005814 "ICD10:C26.0" MONDO:0005814 "MESH:D007414" -MONDO:0005814 "DOID:10155" MONDO:0005814 "ICD9:159.0" +MONDO:0005814 "DOID:10155" MONDO:0005814 "SCTID:363508008" MONDO:0005814 "UMLS:C0346627" MONDO:0017348 "Orphanet:289682" -MONDO:0008533 "ICD10:K00.1" MONDO:0008533 "MESH:D014096" MONDO:0008533 "OMIM:187100" +MONDO:0008533 "ICD10CM:K00.1" MONDO:0008533 "SCTID:8666004" MONDO:0012196 "UMLS:C1836743" MONDO:0012196 "DOID:0060690" MONDO:0012196 "OMIM:609129" MONDO:0012196 "MESH:C563790" -MONDO:0012196 "ICD10:H90.3" MONDO:0000879 "UMLS:C0006846" MONDO:0000879 "DOID:0080161" MONDO:0000879 "MESH:D002179" NCBITaxon:8028 "GC_ID:1" MONDO:0016547 "UMLS:CN201629" -MONDO:0016547 "ICD10:Q87.3" +MONDO:0016547 "ICD10CM:Q87.3" MONDO:0016547 "Orphanet:238613" MONDO:0016547 "OMIM:130650" MONDO:0001825 "UMLS:C0205874" @@ -57239,24 +55841,21 @@ MONDO:0001825 "NCIT:C3712" MONDO:0001825 "ICDO:8052/0" MONDO:0001825 "DOID:139" MONDO:0001825 "EFO:1001970" -MONDO:0016430 "UMLS:C0205710" +MONDO:0016430 "NCIT:C35257" +MONDO:0016430 "Orphanet:228165" +MONDO:0016430 "SCTID:230380005" MONDO:0016430 "ICD9:341.1" +MONDO:0016430 "UMLS:C0007795" +MONDO:0016430 "UMLS:C0004712" +MONDO:0016430 "SCTID:20415001" MONDO:0016430 "MedDRA:10010252" -MONDO:0016430 "ICD10:G37.0" MONDO:0016430 "SCTID:49692006" -MONDO:0016430 "UMLS:C0007795" -MONDO:0016430 "NCIT:C35257" MONDO:0016430 "DOID:0060215" -MONDO:0016430 "SCTID:20415001" -MONDO:0016430 "Orphanet:228165" -MONDO:0016430 "ICD10:G31.81" -MONDO:0016430 "ICD10:G37.5" -MONDO:0016430 "SCTID:230380005" +MONDO:0016430 "UMLS:C0205710" MONDO:0016430 "GARD:0005885" -MONDO:0016430 "UMLS:C0004712" +MONDO:0011391 "ICD10CM:E75.2" MONDO:0011391 "OMIM:613926" MONDO:0011391 "DOID:0080315" -MONDO:0011391 "ICD10:E75.2" MONDO:0011391 "SCTID:703536004" MONDO:0011391 "UMLS:CN176898" MONDO:0011391 "MESH:C536141" @@ -57273,9 +55872,9 @@ MONDO:0012033 "ICD9:368.8" MONDO:0012033 "Orphanet:75374" MONDO:0012033 "OMIM:608415" MONDO:0012033 "SCTID:711163009" +MONDO:0012033 "ICD10CM:H53.8" MONDO:0012033 "MESH:C564243" MONDO:0012033 "DOID:0050335" -MONDO:0012033 "ICD10:H53.8" MONDO:0006598 "SCTID:53597009" MONDO:0006598 "Wikipedia:Photodermatitis" MONDO:0006598 "MESH:D017484" @@ -57283,7 +55882,6 @@ MONDO:0006598 "UMLS:C0162830" MONDO:0006598 "DOID:4407" MONDO:0006598 "NCIT:C4816" MONDO:0006598 "EFO:1000753" -MONDO:0000716 "ICD10:R48.8" MONDO:0000716 "DOID:0060223" MONDO:0013420 "DOID:0110024" MONDO:0013420 "UMLS:C3151079" @@ -57294,8 +55892,8 @@ MONDO:0009974 "OMIM:603553" MONDO:0009974 "OMIM:608898" MONDO:0009974 "UMLS:C0272199" MONDO:0009974 "OMIM:603552" -MONDO:0009974 "ICD10:D76.1" MONDO:0009974 "Orphanet:540" +MONDO:0009974 "ICD10CM:D76.1" MONDO:0009974 "OMIM:613101" MONDO:0009974 "UMLS:CN034020" MONDO:0009974 "UMLS:CN205265" @@ -57305,13 +55903,13 @@ NCBITaxon:6246 "GC_ID:1" MONDO:0017988 "ICD9:427.89" MONDO:0017988 "Orphanet:3282" MONDO:0017988 "HP:0011701" -MONDO:0017988 "ICD10:I47.1" MONDO:0017988 "UMLS:C0221158" MONDO:0017988 "SCTID:49982000" +MONDO:0017988 "ICD10CM:I47.1" MONDO:0017988 "GARD:0001235" +MONDO:0017871 "ICD10CM:E27.4" MONDO:0017871 "UMLS:CN203920" MONDO:0017871 "Orphanet:319205" -MONDO:0017871 "ICD10:E27.4" MONDO:0003428 "UMLS:C0238814" MONDO:0003428 "DOID:5393" MONDO:0003428 "NCIT:C7739" @@ -57327,23 +55925,23 @@ MONDO:0010251 "Orphanet:777" MONDO:0022403 "GARD:0005763" MONDO:0000903 "MESH:C536096" MONDO:0000903 "GARD:0007139" -MONDO:0000903 "ICD10:G24.1" MONDO:0000903 "ICD9:333.99" MONDO:0000903 "OMIM:159900" MONDO:0000903 "DOID:0090033" MONDO:0000903 "SCTID:439732004" MONDO:0000903 "UMLS:C1834570" MONDO:0000903 "Orphanet:36899" +MONDO:0000903 "ICD10CM:G24.1" MONDO:0018592 "UMLS:CN242143" -MONDO:0018592 "ICD10:M30.0" MONDO:0018592 "SCTID:239926000" MONDO:0018592 "UMLS:C0343190" +MONDO:0018592 "ICD10CM:M30.0" MONDO:0018592 "GARD:0007415" MONDO:0018592 "ICD9:709.8" MONDO:0018592 "NCIT:C117295" MONDO:0018592 "Orphanet:439729" MONDO:0015418 "Orphanet:141269" -MONDO:0015418 "ICD10:Q18.8" +MONDO:0015418 "ICD10CM:Q18.8" MONDO:0009126 "NCIT:C101025" MONDO:0009126 "GARD:0000054" MONDO:0009126 "UMLS:C0266174" @@ -57351,31 +55949,30 @@ MONDO:0009126 "Orphanet:1203" MONDO:0009126 "HP:0002247" MONDO:0009126 "MESH:C535720" MONDO:0009126 "SCTID:51118003" -MONDO:0009126 "ICD10:Q41.0" +MONDO:0009126 "ICD10CM:Q41.0" MONDO:0009126 "OMIM:223400" MONDO:0009126 "DOID:0080216" MONDO:0009126 "ICD9:751.1" MONDO:0009126 "MedDRA:10013812" MONDO:0016976 "Orphanet:263331" -MONDO:0016976 "ICD10:C37" MONDO:0016976 "SCTID:717922007" MONDO:0016976 "UMLS:CN202278" +MONDO:0016976 "ICD10CM:C37" MONDO:0019923 "UMLS:CN206842" -MONDO:0019923 "ICD10:Q87.3" +MONDO:0019923 "ICD10CM:Q87.3" MONDO:0019923 "Orphanet:96193" MONDO:0016805 "UMLS:CN227005" MONDO:0016805 "Orphanet:254846" MONDO:0002026 "SCTID:78048006" MONDO:0002026 "NCIT:C26711" MONDO:0002026 "MESH:D002177" +MONDO:0002026 "ICD10CM:B37" +MONDO:0002026 "UMLS:C0006840" MONDO:0002026 "ICD9:112.9" -MONDO:0002026 "ICD10:B37.9" MONDO:0002026 "ICD9:112" -MONDO:0002026 "UMLS:C0006840" MONDO:0002026 "ICD9:112.89" MONDO:0002026 "DOID:1508" -MONDO:0002026 "ICD10:B37" -MONDO:0020468 "ICD10:Q99.8" +MONDO:0020468 "ICD10CM:Q99.8" MONDO:0020468 "Orphanet:99324" MONDO:0011653 "UMLS:C1853488" MONDO:0011653 "Orphanet:319487" @@ -57414,23 +56011,21 @@ MONDO:0016022 "GARD:0007142" MONDO:0016022 "UMLS:C0014550" MONDO:0016022 "OMIM:609304" MONDO:0016022 "OMIM:616341" -MONDO:0016022 "ICD10:G40.4" MONDO:0016022 "UMLS:C0270855" MONDO:0016022 "EFO:1001900" MONDO:0016022 "OMIM:617105" MONDO:0016022 "NCIT:C116593" MONDO:0016022 "Orphanet:1935" -MONDO:0017580 "ICD10:Q92.3" MONDO:0017580 "UMLS:CN203376" MONDO:0017580 "Orphanet:300305" +MONDO:0010894 "NCIT:C129742" MONDO:0010894 "Orphanet:552" +MONDO:0010894 "GARD:0010658" +MONDO:0010894 "OMIM:600496" +MONDO:0010894 "DOID:0111102" MONDO:0010894 "UMLS:C1838100" MONDO:0010894 "SCTID:609570008" MONDO:0010894 "MESH:C563933" -MONDO:0010894 "DOID:0111102" -MONDO:0010894 "GARD:0010658" -MONDO:0010894 "NCIT:C129742" -MONDO:0010894 "OMIM:600496" MONDO:0000244 "DOID:0050105" HP:0002573 "SNOMEDCT_US:236068001" HP:0002573 "MSH:D006471" @@ -57479,12 +56074,10 @@ MONDO:0015263 "DOID:0050451" MONDO:0015263 "NCIT:C71059" MONDO:0015263 "OMIM:613123" MONDO:0015263 "Orphanet:130" -MONDO:0015263 "ICD10:I49.8" MONDO:0015263 "OMIM:613120" MONDO:0015263 "GARD:0001030" -MONDO:0044739 "ICD10:L51.8" MONDO:0044739 "Orphanet:506784" -MONDO:0017463 "ICD10:Q74.2" +MONDO:0017463 "ICD10CM:Q74.2" MONDO:0017463 "Orphanet:295020" MONDO:0008785 "GARD:0008249" MONDO:0008785 "OMIM:205950" @@ -57493,7 +56086,7 @@ MONDO:0008785 "Orphanet:255132" MONDO:0008785 "MESH:C567145" MONDO:0008785 "Orphanet:260305" MONDO:0014414 "OMIM:615952" -MONDO:0014414 "ICD10:M35.8" +MONDO:0014414 "ICD10CM:M35.8" MONDO:0014414 "Orphanet:438159" MONDO:0014414 "UMLS:C4014795" HP:0410043 "Fyler:4339" @@ -57518,11 +56111,11 @@ MONDO:0009406 "DOID:0060569" MONDO:0009406 "SCTID:239087008" MONDO:0009406 "UMLS:C0795905" MONDO:0009406 "Orphanet:1517" -MONDO:0009406 "ICD10:Q87.3" +MONDO:0009406 "ICD10CM:Q87.3" MONDO:0009406 "GARD:0008585" MONDO:0013069 "UMLS:C2751812" +MONDO:0013069 "ICD10CM:H47.2" MONDO:0013069 "Orphanet:227976" -MONDO:0013069 "ICD10:H47.2" MONDO:0013069 "DOID:0111437" MONDO:0013069 "OMIM:612989" MONDO:0013069 "MESH:C567833" @@ -57530,10 +56123,10 @@ MONDO:0032726 "Orphanet:565624" MONDO:0032726 "DOID:0111475" MONDO:0032726 "OMIM:618397" MONDO:0018865 "OMIM:607654" +MONDO:0018865 "ICD10CM:Q82.8" MONDO:0018865 "UMLS:CN205191" MONDO:0018865 "OMIM:148700" MONDO:0018865 "SCTID:764958008" -MONDO:0018865 "ICD10:Q82.8" MONDO:0018865 "Orphanet:50942" MONDO:0018865 "OMIM:612908" CL:0000706 "FMA:70549" @@ -57552,18 +56145,18 @@ MONDO:0005775 "UMLS:C2939465" MONDO:0005775 "DOID:2862" MONDO:0005775 "NCIT:C98933" HP:0002981 "UMLS:C4021832" -MONDO:0011308 "ICD10:E88.8" MONDO:0011308 "DOID:0111455" MONDO:0011308 "UMLS:C1864002" MONDO:0011308 "MESH:C537934" MONDO:0011308 "ICD9:759.89" +MONDO:0011308 "ICD10CM:E88.8" MONDO:0011308 "OMIM:603358" MONDO:0011308 "GARD:0000001" MONDO:0011308 "Orphanet:53693" MONDO:0011308 "SCTID:703388005" MONDO:0016408 "Orphanet:226292" -MONDO:0016408 "ICD10:E03.0" -MONDO:0016408 "ICD10:E03.1" +MONDO:0016408 "ICD10CM:E03.0" +MONDO:0016408 "ICD10CM:E03.1" MONDO:0015692 "ICD9:238.73" MONDO:0015692 "SCTID:110000005" MONDO:0015692 "MedDRA:10038271" @@ -57572,23 +56165,22 @@ MONDO:0015692 "ICDO:9984/3" MONDO:0015692 "UMLS:CN200189" MONDO:0015692 "UMLS:C0002894" MONDO:0015692 "Orphanet:168960" -MONDO:0015692 "ICD10:D46.3" MONDO:0015692 "UMLS:C0280028" MONDO:0020247 "Orphanet:98669" MONDO:0020247 "SCTID:449866003" MONDO:0020247 "ICD9:743.56" -MONDO:0020247 "ICD10:Q14.1" +MONDO:0020247 "ICD10CM:Q14.1" MONDO:0009272 "SCTID:733037000" MONDO:0009272 "UMLS:C0265373" MONDO:0009272 "Orphanet:2077" -MONDO:0009272 "ICD10:Q87.8" +MONDO:0009272 "ICD10CM:Q87.8" MONDO:0009272 "UMLS:C3887495" MONDO:0009272 "MESH:C562543" MONDO:0009272 "OMIM:231080" MONDO:0012643 "UMLS:C1970009" MONDO:0012643 "Orphanet:171622" MONDO:0012643 "SCTID:726606003" -MONDO:0012643 "ICD10:G11.4" +MONDO:0012643 "ICD10CM:G11.4" MONDO:0012643 "MESH:C566983" MONDO:0012643 "UMLS:C4511958" MONDO:0012643 "OMIM:611252" @@ -57599,16 +56191,14 @@ MONDO:0005680 "ICD9:081.1" MONDO:0005680 "EFO:0007182" MONDO:0005680 "SCTID:47761007" MONDO:0005680 "DOID:11254" -MONDO:0005680 "ICD10:A75.1" MONDO:0005680 "UMLS:C0006181" MONDO:0005680 "Orphanet:99990" MONDO:0008075 "OMIM:162091" MONDO:0008075 "DOID:3204" MONDO:0008075 "OMIMPS:162091" MONDO:0008075 "UMLS:C1335929" -MONDO:0008075 "ICD10:Q85.0" -MONDO:0008075 "ICD10:Q85.03" MONDO:0008075 "GARD:0004768" +MONDO:0008075 "ICD10CM:Q85.0" MONDO:0008075 "ICDO:9560/1" MONDO:0008075 "NCIT:C6557" MONDO:0008075 "OMIM:162260" @@ -57620,24 +56210,23 @@ MONDO:0019056 "ICD9:358.9" MONDO:0019056 "DOID:440" MONDO:0019056 "MedDRA:10029323" MONDO:0019056 "ICD9:358" -MONDO:0019056 "ICD10:G70.9" MONDO:0019056 "Orphanet:68381" +MONDO:0019056 "ICD10CM:G70-G73" MONDO:0019056 "UMLS:C0027868" MONDO:0019056 "EFO:1001902" MONDO:0005658 "EFO:0007158" MONDO:0005658 "UMLS:C0376550" MONDO:0005658 "MESH:D019350" MONDO:0002407 "DOID:2725" -MONDO:0002407 "ICD10:Q82.5" MONDO:0002407 "ICDO:9131/0" MONDO:0002407 "SCTID:56975005" MONDO:0002407 "MESH:D018324" MONDO:0002407 "UMLS:C0206733" MONDO:0002407 "NCIT:C7457" MONDO:0014822 "Orphanet:261190" +MONDO:0014822 "ICD10CM:Q93.5" MONDO:0014822 "UMLS:C4225666" MONDO:0014822 "SCTID:719575008" -MONDO:0014822 "ICD10:Q93.5" MONDO:0014822 "UMLS:C4305230" MONDO:0014822 "OMIM:616898" MONDO:0022405 "Orphanet:156180" @@ -57645,23 +56234,22 @@ MONDO:0017012 "Orphanet:264431" MONDO:0012749 "MESH:C567503" MONDO:0012749 "OMIM:611886" MONDO:0012749 "UMLS:C2678472" -MONDO:0001238 "ICD10:P61.1" MONDO:0001238 "UMLS:C0272153" MONDO:0001238 "DOID:11242" MONDO:0001238 "NCIT:C27069" +MONDO:0001238 "ICD10CM:P61.1" MONDO:0001238 "ICD9:776.4" MONDO:0001238 "SCTID:32984002" MONDO:0000023 "UMLS:CN228161" MONDO:0000023 "Orphanet:464724" MONDO:0000023 "OMIMPS:615438" MONDO:0012526 "MESH:D056828" +MONDO:0012526 "ICD10CM:D84.1" MONDO:0012526 "Orphanet:100054" MONDO:0012526 "SCTID:427167008" MONDO:0012526 "ICD9:277.6" MONDO:0012526 "Orphanet:91378" -MONDO:0012526 "ICD10:D84.1" MONDO:0012526 "OMIM:610618" -MONDO:0019392 "ICD10:D23.9" MONDO:0019392 "SCTID:239121009" MONDO:0019392 "Orphanet:840" MONDO:0019392 "DOID:5445" @@ -57671,17 +56259,19 @@ MONDO:0019392 "NCIT:C4172" MONDO:0019392 "GARD:0005100" MONDO:0019392 "ICDO:8406/0" MONDO:0019392 "MedDRA:10042926" +MONDO:0019392 "ICD10CM:D23.9" MONDO:0007837 "Orphanet:2316" MONDO:0007837 "MESH:C535882" MONDO:0007837 "UMLS:C0796002" MONDO:0007837 "GARD:0000378" -MONDO:0007837 "ICD10:Q87.8" MONDO:0007837 "OMIM:147770" MONDO:0007837 "SCTID:721584005" +MONDO:0007837 "ICD10CM:Q87.8" +MONDO:0700003 "ICD10CM:O94-O9A" MONDO:0016807 "Orphanet:254854" +MONDO:0016807 "ICD10CM:G71.3" MONDO:0016807 "SCTID:732245008" MONDO:0016807 "UMLS:C4517289" -MONDO:0016807 "ICD10:G71.3" MONDO:0043303 "MESH:D012001" MONDO:0043303 "NCIT:C116366" MONDO:0043303 "SCTID:25289003" @@ -57693,13 +56283,13 @@ MONDO:0001648 "ICD9:112.84" MONDO:0001648 "SCTID:20639004" MONDO:0001648 "UMLS:C0239295" MONDO:0001648 "DOID:13146" -MONDO:0001648 "ICD10:B37.81" MONDO:0001648 "NCIT:C27027" +MONDO:0001648 "ICD10CM:B37.81" MONDO:0004899 "SCTID:14785004" MONDO:0004899 "UMLS:C0339611" MONDO:0004899 "DOID:9843" +MONDO:0004899 "ICD10CM:H50.42" MONDO:0004899 "ICD9:378.34" -MONDO:0004899 "ICD10:H50.42" MONDO:0006262 "EFO:1000317" MONDO:0006262 "UMLS:C0346340" MONDO:0006262 "NCIT:C4540" @@ -57713,11 +56303,10 @@ MONDO:0008388 "SCTID:21926007" MONDO:0008388 "MESH:C537187" MONDO:0008388 "GARD:0004359" MONDO:0008388 "UMLS:C0263489" -MONDO:0008388 "ICD10:Q84.1" MONDO:0008388 "Orphanet:169" +MONDO:0008388 "ICD10CM:Q84.1" MONDO:0030871 "OMIM:619122" MONDO:0018453 "Orphanet:404560" -MONDO:0018453 "ICD10:D22.9" MONDO:0018453 "OMIM:155600" MONDO:0018453 "NCIT:C27264" MONDO:0018453 "OMIM:606719" @@ -57726,27 +56315,24 @@ MONDO:0002679 "DOID:3526" MONDO:0002679 "ICD9:433.81" MONDO:0002679 "ICD9:433.01" MONDO:0002679 "ICD9:433.31" -MONDO:0002679 "ICD10:I63.9" MONDO:0002679 "MESH:D002544" -MONDO:0002679 "ICD10:I63" MONDO:0002679 "SCTID:20059004" MONDO:0002679 "UMLS:C0007785" MONDO:0002679 "SCTID:432504007" MONDO:0002679 "ICD9:433.21" MONDO:0002679 "ICD9:434.91" MONDO:0002679 "NCIT:C50486" -MONDO:0010568 "MedDRA:10054935" -MONDO:0010568 "OMIM:304050" -MONDO:0010568 "UMLS:C0175713" +MONDO:0010568 "GARD:0005764" +MONDO:0010568 "ICD10CM:Q04.0" MONDO:0010568 "SCTID:80651009" +MONDO:0010568 "MESH:D058540" +MONDO:0010568 "UMLS:C0175713" MONDO:0010568 "NCIT:C35256" -MONDO:0010568 "ICD10:Q04.0" -MONDO:0010568 "GARD:0005764" -MONDO:0010568 "DOID:8461" MONDO:0010568 "Orphanet:50" -MONDO:0010568 "MESH:D058540" +MONDO:0010568 "MedDRA:10054935" +MONDO:0010568 "DOID:8461" +MONDO:0010568 "OMIM:304050" HP:0000223 "UMLS:C4025879" -MONDO:0004625 "ICD10:I80" MONDO:0004625 "DOID:864" MONDO:0004625 "MESH:D010689" MONDO:0004625 "SCTID:61599003" @@ -57756,7 +56342,6 @@ MONDO:0013130 "OMIM:613094" MONDO:0013130 "DOID:0060836" MONDO:0013130 "UMLS:C2751307" MONDO:0013130 "MESH:C567757" -MONDO:0013130 "ICD10:Q11.0" MONDO:0013130 "Orphanet:2542" MONDO:0020980 "SCTID:201161009" MONDO:0020980 "UMLS:C0018508" @@ -57768,18 +56353,18 @@ MONDO:0011514 "HP:0011662" MONDO:0011514 "GARD:0005274" MONDO:0011514 "UMLS:C0243002" MONDO:0011514 "DOID:0080169" +MONDO:0011514 "ICD10CM:Q22.4" MONDO:0011514 "Orphanet:1209" MONDO:0011514 "MedDRA:10049767" MONDO:0011514 "SCTID:63042009" -MONDO:0011514 "ICD10:Q22.4" MONDO:0030058 "OMIM:618915" MONDO:0013258 "OMIM:613410" MONDO:0015113 "Orphanet:101938" MONDO:0012235 "UMLS:C1836474" -MONDO:0012235 "ICD10:G11.1" MONDO:0012235 "Orphanet:284324" MONDO:0012235 "DOID:0080059" MONDO:0012235 "OMIM:609270" +MONDO:0012235 "ICD10CM:G11.1" MONDO:0012235 "MESH:C563753" MONDO:0012235 "GARD:0012232" MONDO:0014204 "OMIM:615483" @@ -57788,8 +56373,8 @@ MONDO:0014204 "UMLS:C3809645" MONDO:0003940 "SCTID:111232005" MONDO:0003940 "ICD9:721.7" MONDO:0003940 "DOID:6603" -MONDO:0003940 "ICD10:M48.3" MONDO:0003940 "UMLS:C0152088" +MONDO:0003940 "ICD10CM:M48.3" MONDO:0021665 "NCIT:C85043" MONDO:0010755 "OMIM:314550" MONDO:0010755 "UMLS:C1839114" @@ -57800,7 +56385,6 @@ MONDO:0014571 "OMIM:616289" MONDO:0020836 "OMIMPS:209850" MONDO:0005207 "ICDO:9100/3" MONDO:0005207 "ONCOTREE:BCCA" -MONDO:0005207 "ICD10:C58" MONDO:0005207 "UMLS:C0008497" MONDO:0005207 "SCTID:188188009" MONDO:0005207 "HP:0100768" @@ -57816,7 +56400,9 @@ MONDO:0004491 "DOID:8188" MONDO:0000519 "DOID:0050901" MONDO:0024355 "ICD9:519.8" MONDO:0024355 "MESH:D012141" +MONDO:0024355 "ICD10CM:J30-J39" MONDO:0024355 "SCTID:275498002" +MONDO:0024355 "ICD10CM:J00-J06" MONDO:0003294 "DOID:5137" MONDO:0003294 "NCIT:C6743" MONDO:0003294 "UMLS:C1335380" @@ -57827,33 +56413,27 @@ MONDO:0011476 "DOID:0060009" MONDO:0011476 "UMLS:C1858266" MONDO:0011476 "GARD:0008427" MONDO:0011476 "OMIM:604571" -MONDO:0011476 "ICD10:D81.6" MONDO:0011476 "Orphanet:34592" MONDO:0014699 "OMIM:616579" MONDO:0014699 "DOID:0070070" MONDO:0014699 "UMLS:C4225275" MONDO:0001982 "EFO:1001380" MONDO:0001982 "SCTID:58459009" -MONDO:0001982 "ICD10:E75.24" -MONDO:0001982 "ICD10:E75.242" MONDO:0001982 "NCIT:C61269" MONDO:0001982 "UMLS:C0028064" MONDO:0001982 "DOID:14504" -MONDO:0001982 "MESH:D052556" MONDO:0001982 "MESH:D009542" -MONDO:0001982 "ICD10:E75.249" +MONDO:0001982 "MESH:D052556" MONDO:0001982 "SCTID:66751000" MONDO:0001982 "GARD:0013334" MONDO:0012422 "OMIM:610155" MONDO:0012422 "MESH:C565715" MONDO:0012422 "UMLS:C1857808" MONDO:0012422 "DOID:0110756" -MONDO:0012422 "ICD10:E10" MONDO:0008950 "Orphanet:702" MONDO:0008950 "GARD:0007348" MONDO:0008950 "MESH:C536318" MONDO:0008950 "OMIM:213900" -MONDO:0006670 "ICD10:G00.9" MONDO:0006670 "ICD9:320" MONDO:0006670 "ICD9:320.89" MONDO:0006670 "MESH:D016920" @@ -57861,7 +56441,6 @@ MONDO:0006670 "MedDRA:10004049" MONDO:0006670 "ICD9:320.7" MONDO:0006670 "EFO:1000831" MONDO:0006670 "GARD:0005881" -MONDO:0006670 "ICD10:G00" MONDO:0006670 "NCIT:C118297" MONDO:0006670 "DOID:9470" MONDO:0006670 "SCTID:95883001" @@ -57869,7 +56448,6 @@ MONDO:0006670 "UMLS:C0085437" MONDO:0006670 "ICD9:320.9" MONDO:0008629 "OMIM:191700" MONDO:0008629 "DOID:0080654" -MONDO:0015358 "ICD10:G60.0" MONDO:0015358 "SCTID:398100001" MONDO:0015358 "GARD:0012685" MONDO:0015358 "MESH:D015417" @@ -57880,7 +56458,6 @@ MONDO:0042912 "GARD:0000255" MONDO:0032694 "OMIM:618351" MONDO:0006648 "UMLS:C0003152" MONDO:0006648 "MESH:D000868" -MONDO:0006648 "ICD10:M76.81" MONDO:0006648 "SCTID:12694001" MONDO:0006648 "EFO:1000808" MONDO:0006648 "NCIT:C118422" @@ -57907,7 +56484,7 @@ MONDO:0011020 "GARD:0000404" MONDO:0011020 "OMIM:601220" MONDO:0011020 "MESH:C536062" MONDO:0010464 "Orphanet:163961" -MONDO:0010464 "ICD10:Q87.8" +MONDO:0010464 "ICD10CM:Q87.8" MONDO:0010464 "UMLS:C3275487" MONDO:0010464 "OMIM:300864" MONDO:0060491 "OMIM:617493" @@ -57919,13 +56496,12 @@ MONDO:0007252 "OMIM:114300" MONDO:0007252 "MESH:C537288" MONDO:0007252 "UMLS:C0220666" MONDO:0007252 "ICD9:579.8" -MONDO:0007252 "ICD10:Q68.8" +MONDO:0007252 "ICD10CM:Q68.8" MONDO:0007252 "Orphanet:376" MONDO:0007252 "SCTID:237850008" MONDO:0020659 "ONCOTREE:UTUC" MONDO:0020659 "Orphanet:598216" CL:0000225 "FMA:68647" -MONDO:0014291 "ICD10:H90.3" MONDO:0014291 "DOID:0110580" MONDO:0014291 "OMIM:615649" MONDO:0010347 "OMIM:300505" @@ -57933,10 +56509,10 @@ MONDO:0010347 "MESH:C564501" MONDO:0010347 "UMLS:C1845297" HP:0000002 "UMLS:C4025901" MONDO:0020412 "Orphanet:99072" -MONDO:0020412 "ICD10:Q25.8" +MONDO:0020412 "ICD10CM:Q25.8" MONDO:0020412 "SCTID:763316006" FOODON:03400217 "http://www.langual.org/langual_thesaurus.asp?termid=A0217" -MONDO:0018045 "ICD10:D61.0" +MONDO:0018045 "ICD10CM:D61.0" MONDO:0018045 "GARD:0000346" MONDO:0018045 "OMIM:613990" MONDO:0018045 "OMIM:615190" @@ -57954,10 +56530,9 @@ MONDO:0012528 "MESH:C565696" MONDO:0012528 "GARD:0010772" MONDO:0012528 "UMLS:C3552343" MONDO:0012528 "Orphanet:478" -MONDO:0012528 "ICD10:E23.0" MONDO:0018688 "EFO:0008597" +MONDO:0018688 "ICD10CM:L12.8" MONDO:0018688 "UMLS:CN237754" -MONDO:0018688 "ICD10:L12.8" MONDO:0018688 "Orphanet:454710" MONDO:0007135 "DOID:0080084" MONDO:0007135 "GARD:0000710" @@ -57971,10 +56546,10 @@ HP:0008071 "UMLS:C0565599" HP:0008071 "SNOMEDCT_US:288250001" MONDO:0013225 "UMLS:C2750069" MONDO:0013225 "OMIM:613327" -MONDO:0013225 "ICD10:E88.1" MONDO:0013225 "GARD:0010937" MONDO:0013225 "DOID:0111138" MONDO:0013225 "Orphanet:228429" +MONDO:0013225 "ICD10CM:E88.1" MONDO:0013225 "MESH:C567642" MONDO:0021444 "NCIT:C4610" MONDO:0021444 "SCTID:92170008" @@ -57995,37 +56570,33 @@ MONDO:0008167 "UMLS:C0280131" MONDO:0008167 "MESH:C562731" MONDO:0011516 "OMIM:605105" MONDO:0018232 "Orphanet:364536" -MONDO:0017676 "ICD10:Q82.8" +MONDO:0017676 "ICD10CM:Q82.8" MONDO:0017676 "Orphanet:307995" MONDO:0054565 "OMIM:617405" +MONDO:0001761 "DOID:13628" +MONDO:0001761 "MESH:D005236" +MONDO:0001761 "SCTID:191172001" +MONDO:0001761 "UMLS:C0015702" +MONDO:0001761 "NCIT:C34607" MONDO:0008553 "Orphanet:721" -MONDO:0008553 "ICD10:D69.1" MONDO:0008553 "DOID:0111049" MONDO:0008553 "MESH:D055652" -MONDO:0008553 "NCIT:C142084" MONDO:0008553 "MESH:C566060" +MONDO:0008553 "NCIT:C142084" MONDO:0008553 "OMIM:187900" MONDO:0008553 "UMLS:C0272302" -MONDO:0001761 "DOID:13628" -MONDO:0001761 "MESH:D005236" -MONDO:0001761 "SCTID:191172001" -MONDO:0001761 "UMLS:C0015702" -MONDO:0001761 "ICD10:D55.0" -MONDO:0001761 "NCIT:C34607" MONDO:0013108 "UMLS:C2751595" MONDO:0013108 "Orphanet:513" MONDO:0013108 "OMIM:613065" MONDO:0000708 "DOID:0060188" -MONDO:0000708 "ICD10:K50.0" -MONDO:0014666 "ICD10:G11.1" MONDO:0014666 "OMIM:616494" MONDO:0014666 "DOID:0060792" MONDO:0014666 "Orphanet:88637" MONDO:0014666 "UMLS:C4225305" MONDO:0012392 "OMIM:610006" MONDO:0012392 "NCIT:C98863" -MONDO:0012392 "ICD10:E71.1" MONDO:0012392 "GARD:0010322" +MONDO:0012392 "ICD10CM:E71.1" MONDO:0012392 "Orphanet:79157" MONDO:0012392 "MESH:C566487" MONDO:0012392 "UMLS:C1864912" @@ -58046,12 +56617,12 @@ MONDO:0010757 "MESH:C564040" MONDO:0004341 "UMLS:C1333081" MONDO:0004341 "DOID:7717" MONDO:0004341 "NCIT:C37214" -MONDO:0019650 "ICD10:N04.0" -MONDO:0019650 "Orphanet:93207" -MONDO:0019650 "UMLS:CN206522" MONDO:0002198 "NCIT:C40292" MONDO:0002198 "UMLS:C1520082" MONDO:0002198 "DOID:2076" +MONDO:0019650 "ICD10CM:N04.0" +MONDO:0019650 "Orphanet:93207" +MONDO:0019650 "UMLS:CN206522" MONDO:0054752 "OMIM:617898" MONDO:0054752 "UMLS:CN842246" MONDO:0003144 "DOID:4790" @@ -58093,13 +56664,13 @@ MONDO:0007031 "SCTID:715364001" MONDO:0007031 "OMIM:609782" MONDO:0007031 "OMIM:611891" MONDO:0007031 "UMLS:CN206207" -MONDO:0007031 "UMLS:C4275172" MONDO:0007031 "OMIMPS:100070" +MONDO:0007031 "UMLS:C4275172" MONDO:0007031 "OMIM:100070" MONDO:0007031 "OMIM:614375" MONDO:0007031 "GARD:0009181" MONDO:0007031 "Orphanet:86" -MONDO:0007031 "ICD10:I71.4" +MONDO:0007031 "ICD10CM:I71.4" MONDO:0000049 "OMIMPS:610799" MONDO:0000049 "UMLS:CN228622" NCBITaxon:157541 "GC_ID:1" @@ -58115,16 +56686,16 @@ FOODON:03400148 "http://www.langual.org/langual_thesaurus.asp?termid=A0148" MONDO:0001584 "SCTID:45030009" MONDO:0001584 "ICD9:378.9" MONDO:0001584 "GARD:0007237" +MONDO:0001584 "ICD10CM:H49-H52" MONDO:0001584 "EFO:1001990" MONDO:0001584 "DOID:1279" MONDO:0003784 "NCIT:C4589" -MONDO:0003784 "ICD10:D02.3" MONDO:0003784 "SCTID:92663007" MONDO:0003784 "ICD9:231.8" MONDO:0003784 "DOID:6148" MONDO:0003784 "UMLS:C0347095" -MONDO:0017182 "ICD10:E16.1" MONDO:0017182 "Orphanet:276525" +MONDO:0017182 "ICD10CM:E16.1" MONDO:0017182 "NCIT:C131425" MONDO:0005073 "EFO:0000625" MONDO:0005073 "NCIT:C7570" @@ -58136,20 +56707,20 @@ MONDO:0015870 "UMLS:CN200474" MONDO:0015870 "Orphanet:180257" MONDO:0004960 "DOID:7442" MONDO:0004960 "SCTID:109983007" -MONDO:0004960 "ICD10:D47.2" MONDO:0004960 "SCTID:58648008" MONDO:0004960 "EFO:0000203" MONDO:0004960 "SCTID:277577000" MONDO:0004960 "MESH:D010265" MONDO:0004960 "MESH:D008998" MONDO:0004960 "NCIT:C35548" +MONDO:0004960 "ICD10CM:D47.2" NCBITaxon:11072 "GC_ID:1" MONDO:0020132 "Orphanet:98518" MONDO:0010243 "Orphanet:2571" MONDO:0010243 "MESH:C536743" MONDO:0010243 "OMIM:300076" -MONDO:0010243 "ICD10:D82.8" MONDO:0010243 "GARD:0000274" +MONDO:0010243 "ICD10CM:D82.8" MONDO:0010243 "SCTID:719827008" MONDO:0010243 "UMLS:C1848144" MONDO:0006813 "MESH:D018330" @@ -58159,8 +56730,8 @@ MONDO:0006813 "ICDO:8750/0" MONDO:0006813 "NCIT:C3804" MONDO:0006813 "MedDRA:10058537" MONDO:0006813 "SCTID:302838006" +MONDO:0020509 "ICD10CM:G95.0" MONDO:0020509 "Orphanet:99857" -MONDO:0020509 "ICD10:G95.0" MONDO:0043297 "UMLS:C1274377" MONDO:0043297 "SCTID:402965002" MONDO:0043297 "MESH:C536348" @@ -58178,10 +56749,10 @@ MONDO:0010349 "UMLS:C1845294" MONDO:0010349 "MESH:C564499" MONDO:0022770 "GARD:0001365" MONDO:0020414 "Orphanet:99076" -MONDO:0020414 "ICD10:Q25.4" +MONDO:0020414 "ICD10CM:Q25.4" MONDO:0009461 "UMLS:C0403812" MONDO:0009461 "GARD:0012385" -MONDO:0009461 "ICD10:N46" +MONDO:0009461 "ICD10CM:N46" MONDO:0009461 "MESH:C562903" MONDO:0009461 "OMIM:243060" MONDO:0009461 "DOID:0070183" @@ -58191,9 +56762,9 @@ MONDO:0009461 "Orphanet:399808" MONDO:0018538 "Orphanet:425003" MONDO:0018538 "UMLS:CN237539" MONDO:0017910 "DOID:0111575" -MONDO:0017910 "ICD10:D58.8" MONDO:0017910 "Orphanet:3202" MONDO:0017910 "GARD:0005623" +MONDO:0017910 "ICD10CM:D58.8" MONDO:0017910 "OMIM:194380" MONDO:0017910 "OMIM:616689" MONDO:0017910 "SCTID:715526002" @@ -58201,14 +56772,14 @@ MONDO:0014070 "DOID:0070100" MONDO:0014070 "UMLS:C3808786" MONDO:0014070 "OMIM:615179" MONDO:0014070 "SCTID:722059002" +MONDO:0014070 "ICD10CM:E70.3" MONDO:0014070 "Orphanet:352745" MONDO:0014070 "UMLS:CN204524" -MONDO:0014070 "ICD10:E70.3" MONDO:0011684 "OMIM:606579" MONDO:0011684 "UMLS:C1847835" MONDO:0010759 "MedDRA:10069402" -MONDO:0010759 "ICD10:Q87.8" MONDO:0010759 "GARD:0005569" +MONDO:0010759 "ICD10CM:Q87.8" MONDO:0010759 "Orphanet:3456" MONDO:0010759 "OMIM:314600" MONDO:0010759 "ICD9:759.89" @@ -58221,8 +56792,8 @@ MONDO:0002751 "DOID:3711" MONDO:0002751 "SCTID:255110003" MONDO:0002751 "ONCOTREE:BLAD" MONDO:0044699 "Orphanet:500163" +MONDO:0011705 "ICD10CM:J84.81" MONDO:0011705 "OMIM:606690" -MONDO:0011705 "ICD10:J84.81" MONDO:0011705 "ICDO:9174/1" MONDO:0011705 "NCIT:C38153" MONDO:0011705 "NCIT:C3725" @@ -58233,7 +56804,7 @@ MONDO:0054754 "UMLS:CN865669" MONDO:0054754 "OMIM:617900" MONDO:0016053 "SCTID:766709000" MONDO:0016053 "Orphanet:199630" -MONDO:0016053 "ICD10:Q04.3" +MONDO:0016053 "ICD10CM:Q04.3" MONDO:0009077 "UMLS:C1857348" MONDO:0009077 "MESH:C565649" MONDO:0009077 "OMIM:220300" @@ -58242,13 +56813,13 @@ MONDO:0021856 "UMLS:C2931255" MONDO:0021856 "GARD:0009213" MONDO:0021856 "MESH:C536588" MONDO:0045048 "NCIT:C34943" +MONDO:0100211 "ICD10CM:E34.3" MONDO:0100211 "MESH:C537871" MONDO:0100211 "UMLS:C4510411" MONDO:0100211 "Orphanet:220465" MONDO:0100211 "UMLS:C1855548" -MONDO:0100211 "ICD10:D82.8" +MONDO:0100211 "ICD10CM:D82.8" MONDO:0100211 "OMIM:245590" -MONDO:0100211 "ICD10:E34.3" MONDO:0100211 "SCTID:724179008" MONDO:0003333 "UMLS:C1511104" MONDO:0003333 "DOID:5209" @@ -58261,72 +56832,70 @@ MONDO:0043923 "MESH:D017676" NCBITaxon:2501931 "GC_ID:1" CL:0002209 "FMA:69060" MONDO:0019885 "MESH:C538294" -MONDO:0019885 "ICD10:Q92.3" MONDO:0019885 "Orphanet:96103" MONDO:0019885 "SCTID:764447009" MONDO:0014269 "Orphanet:397593" MONDO:0014269 "UMLS:C3810055" MONDO:0014269 "OMIM:615595" MONDO:0014269 "DOID:0111476" +MONDO:0008332 "ICD10CM:D69.8" MONDO:0008332 "NCIT:C131681" MONDO:0008332 "MESH:C536458" MONDO:0008332 "OMIM:177820" MONDO:0008332 "DOID:0111056" MONDO:0008332 "Orphanet:52530" -MONDO:0008332 "ICD10:D69.8" MONDO:0008332 "GARD:0008312" MONDO:0009890 "OMIM:263210" MONDO:0009890 "UMLS:C1849762" MONDO:0009890 "Orphanet:79328" MONDO:0009890 "MESH:C564881" -MONDO:0013889 "ICD10:Q87.1" MONDO:0013889 "GARD:0010945" MONDO:0013889 "Orphanet:391677" +MONDO:0013889 "ICD10CM:Q87.1" MONDO:0013889 "OMIM:614800" MONDO:0013889 "UMLS:C3541319" MONDO:0032733 "OMIM:618412" MONDO:0060589 "OMIM:617732" MONDO:0060589 "UMLS:C4540277" MONDO:0019065 "ICD9:277.30" -MONDO:0019065 "ICD10:E85" MONDO:0019065 "Orphanet:69" -MONDO:0019065 "ICD10:E85.3" +MONDO:0019065 "ICD10CM:E85.2" MONDO:0019065 "EFO:1001875" MONDO:0019065 "HP:0011034" MONDO:0019065 "SCTID:17602002" MONDO:0019065 "ICD9:277.3" -MONDO:0019065 "ICD10:E85.8" +MONDO:0019065 "ICD10CM:E85.0" MONDO:0019065 "UMLS:C0002726" -MONDO:0019065 "ICD10:E85.4" +MONDO:0019065 "ICD10CM:E85.8" +MONDO:0019065 "ICD10CM:E85.3" MONDO:0019065 "MESH:D000686" -MONDO:0019065 "ICD10:E85.9" -MONDO:0019065 "ICD10:E85.0" +MONDO:0019065 "ICD10CM:E85.4" +MONDO:0019065 "ICD10CM:E85.9" MONDO:0019065 "MedDRA:10002022" MONDO:0019065 "ONCOTREE:MIDDA" MONDO:0019065 "NCIT:C2868" -MONDO:0019065 "ICD10:E85.2" -MONDO:0019065 "ICD10:E85.1" +MONDO:0019065 "ICD10CM:E85.1" MONDO:0019065 "DOID:9120" MONDO:0014831 "UMLS:C4310796" -MONDO:0014831 "ICD10:E88.1" MONDO:0014831 "OMIM:616914" +MONDO:0014831 "ICD10CM:E88.1" MONDO:0014831 "Orphanet:300382" MONDO:0015497 "Orphanet:156212" -MONDO:0015497 "ICD10:Q38.3" +MONDO:0015497 "ICD10CM:Q38.3" MONDO:0003216 "NCIT:C6155" MONDO:0003216 "DOID:4938" MONDO:0003216 "UMLS:C1336873" CL:0002177 "FMA:83102" MONDO:0015302 "GARD:0010562" +MONDO:0015302 "ICD10EXP:L99.0*" +MONDO:0015302 "ICD10EXP:E85.4+" MONDO:0015302 "UMLS:C0546394" MONDO:0015302 "UMLS:C4274331" MONDO:0015302 "MedDRA:10056953" MONDO:0015302 "SCTID:716704007" -MONDO:0015302 "ICD10:E85.4+" -MONDO:0015302 "ICD10:L99.0*" MONDO:0015302 "Orphanet:137810" MONDO:0017502 "Orphanet:295101" -MONDO:0017502 "ICD10:Q71.3" +MONDO:0017502 "ICD10CM:Q71.3" MONDO:0012487 "Orphanet:2850" MONDO:0012487 "GARD:0004291" MONDO:0012487 "OMIM:610422" @@ -58336,20 +56905,20 @@ MONDO:0012487 "UMLS:C1835852" MONDO:0014760 "Orphanet:476113" MONDO:0014760 "UMLS:C4225219" MONDO:0014760 "OMIM:616740" -MONDO:0001280 "ICD10:H30.8" MONDO:0001280 "UMLS:C0042167" -MONDO:0001280 "UMLS:C0008526" +MONDO:0001280 "Orphanet:280892" MONDO:0001280 "HP:0012123" -MONDO:0001280 "MESH:D002833" MONDO:0001280 "DOID:11406" +MONDO:0001280 "UMLS:C0008526" +MONDO:0001280 "ICD10CM:H30.0" +MONDO:0001280 "SCTID:16553002" MONDO:0001280 "NCIT:C35111" -MONDO:0001280 "ICD10:H30.1" -MONDO:0001280 "ICD10:H30.9" -MONDO:0001280 "ICD10:H30.2" +MONDO:0001280 "ICD10CM:H30.8" +MONDO:0001280 "ICD10CM:H30.9" +MONDO:0001280 "MESH:D002833" MONDO:0001280 "MedDRA:10036370" -MONDO:0001280 "SCTID:16553002" -MONDO:0001280 "ICD10:H30.0" -MONDO:0001280 "Orphanet:280892" +MONDO:0001280 "ICD10CM:H30.2" +MONDO:0001280 "ICD10CM:H30.1" MONDO:0001280 "GARD:0006062" MONDO:0003818 "UMLS:C1332991" MONDO:0003818 "DOID:6229" @@ -58362,9 +56931,9 @@ MONDO:0019252 "Orphanet:79217" MONDO:0019252 "UMLS:CN205838" NCBITaxon:7586 "GC_ID:1" MONDO:0001258 "ICD9:433.2" -MONDO:0001258 "ICD10:I65.0" MONDO:0001258 "SCTID:195182007" MONDO:0001258 "DOID:11299" +MONDO:0001258 "ICD10CM:I65.0" MONDO:0001258 "ICD9:433.20" MONDO:0001258 "ICD9:433.21" MONDO:0002204 "UMLS:C0152083" @@ -58375,7 +56944,6 @@ MONDO:0002204 "ICD9:716.40" MONDO:0002204 "SCTID:6011000119108" MONDO:0002204 "UMLS:C3887596" MONDO:0002204 "ICD9:716.4" -MONDO:0002204 "ICD10:M12.8" MONDO:0001434 "DOID:12105" MONDO:0001434 "ICD9:720.81" MONDO:0001434 "ICD9:720.89" @@ -58384,20 +56952,20 @@ MONDO:0001434 "SCTID:202649003" MONDO:0007337 "SCTID:403772000" MONDO:0007337 "Orphanet:2016" MONDO:0007337 "MESH:C563047" -MONDO:0007337 "ICD10:Q87.8" MONDO:0007337 "DOID:0080313" +MONDO:0007337 "ICD10CM:Q87.8" MONDO:0007337 "OMIM:119550" MONDO:0007337 "GARD:0001391" MONDO:0007337 "ICD9:759.89" MONDO:0007337 "UMLS:C0795898" -MONDO:0011339 "ICD10:G11.4" MONDO:0011339 "DOID:0110823" MONDO:0011339 "Orphanet:100989" MONDO:0011339 "GARD:0009591" +MONDO:0011339 "ICD10CM:G11.4" MONDO:0011339 "MESH:C580458" MONDO:0011339 "OMIM:603563" MONDO:0011339 "UMLS:C1863704" -MONDO:0018904 "ICD10:N00.5" +MONDO:0018904 "ICD10CM:N00.5" MONDO:0018904 "OMIM:615008" MONDO:0018904 "OMIM:609814" MONDO:0018904 "GARD:0011982" @@ -58417,7 +56985,7 @@ MONDO:0004634 "SCTID:90507008" MONDO:0004634 "UMLS:C0235522" MONDO:0004634 "DOID:866" MONDO:0004634 "ICD9:453" -MONDO:0004634 "ICD10:I82" +MONDO:0004634 "ICD10CM:I80-I89" NCBITaxon:2039 "PMID:1377787" NCBITaxon:2039 "GC_ID:11" NCBITaxon:2039 "PMID:11491348" @@ -58425,18 +56993,16 @@ NCBITaxon:2039 "PMID:10843039" NCBITaxon:2039 "PMID:10555351" NCBITaxon:2039 "PMID:8863438" MONDO:0004810 "DOID:9506" -MONDO:0004810 "ICD10:J01.2" -MONDO:0004810 "ICD10:J01.20" MONDO:0004810 "ICD9:461.2" MONDO:0004810 "UMLS:C0155806" MONDO:0004810 "SCTID:67832005" -MONDO:0000214 "DOID:0080535" -MONDO:0000214 "SCTID:768553002" -MONDO:0000214 "OMIMPS:613280" MONDO:0014376 "UMLS:C4014528" MONDO:0014376 "DOID:0070057" MONDO:0014376 "OMIM:615866" MONDO:0014376 "Orphanet:1465" +MONDO:0000214 "DOID:0080535" +MONDO:0000214 "SCTID:768553002" +MONDO:0000214 "OMIMPS:613280" MONDO:0003437 "DOID:5414" MONDO:0003437 "NCIT:C6683" MONDO:0003437 "UMLS:C1335099" @@ -58445,12 +57011,11 @@ MONDO:0020603 "Orphanet:35173" MONDO:0020603 "OMIM:302960" MONDO:0020603 "GARD:0006189" MONDO:0018391 "GARD:0012512" -MONDO:0018391 "ICD10:N46" +MONDO:0018391 "ICD10CM:N46" MONDO:0018391 "UMLS:CN227339" MONDO:0018391 "Orphanet:399775" MONDO:0019455 "ICD9:289.89" MONDO:0019455 "MedDRA:10000879" -MONDO:0019455 "ICD10:C94.4" MONDO:0019455 "SCTID:109991003" MONDO:0019455 "UMLS:C0334674" MONDO:0019455 "ICDO:9931/3" @@ -58458,14 +57023,12 @@ MONDO:0019455 "GARD:0011907" MONDO:0019455 "NCIT:C4344" MONDO:0019455 "Orphanet:86843" MONDO:0019455 "ONCOTREE:APMF" -MONDO:0018258 "ICD10:Q82.5" +MONDO:0018258 "ICD10CM:Q82.5" MONDO:0018258 "UMLS:CN204833" MONDO:0018258 "Orphanet:370039" MONDO:0005379 "SCTID:111475002" -MONDO:0005379 "ICD10:F34.1" MONDO:0005379 "NCIT:C34848" MONDO:0005379 "DOID:4964" -MONDO:0005379 "ICD10:F48.9" MONDO:0005379 "MESH:D009497" MONDO:0005379 "EFO:0004257" MONDO:0005379 "ICD9:300.9" @@ -58481,11 +57044,11 @@ MONDO:0004164 "UMLS:C1515864" MONDO:0004164 "NCIT:C39885" MONDO:0004164 "DOID:7246" MONDO:0015731 "SCTID:253771003" -MONDO:0015731 "ICD10:Q42.0" +MONDO:0015731 "ICD10CM:Q42.1" +MONDO:0015731 "ICD10CM:Q42.0" MONDO:0015731 "ICD9:751.5" MONDO:0015731 "Orphanet:171201" -MONDO:0015731 "ICD10:Q42.1" -MONDO:0008755 "ICD10:G40.4" +MONDO:0008755 "ICD10CM:G40.4" MONDO:0008755 "GARD:0000606" MONDO:0008755 "OMIM:203600" MONDO:0008755 "Orphanet:2574" @@ -58495,13 +57058,13 @@ MONDO:0009701 "OMIM:254950" MONDO:0009701 "MESH:C564974" MONDO:0001655 "SCTID:9520006" MONDO:0001655 "ICD9:379.55" +MONDO:0001655 "ICD10CM:H55.04" MONDO:0001655 "DOID:13174" MONDO:0001655 "MESH:D009759" -MONDO:0001655 "ICD10:H55.04" MONDO:0001655 "UMLS:C0155380" MONDO:0007558 "OMIM:132090" +MONDO:0007558 "ICD10CM:G40.0" MONDO:0007558 "Orphanet:25968" -MONDO:0007558 "ICD10:G40.0" MONDO:0007558 "GARD:0002170" MONDO:0007558 "UMLS:C1851549" NCBITaxon:64895 "PMID:8934900" @@ -58528,33 +57091,30 @@ MONDO:0002601 "DOID:3307" MONDO:0002601 "ONCOTREE:TT" MONDO:0002601 "MESH:D013724" MONDO:0002601 "NCIT:C3403" -MONDO:0019338 "ICD10:D86.8" +MONDO:0019338 "ICD10CM:D86.9" MONDO:0019338 "MedDRA:10039486" -MONDO:0019338 "ICD10:D80-D89" +MONDO:0019338 "ICD10CM:D86.0" MONDO:0019338 "OMIM:612387" MONDO:0019338 "UMLS:C0036202" MONDO:0019338 "ICD9:135" MONDO:0019338 "DOID:11335" MONDO:0019338 "OMIM:181000" -MONDO:0019338 "ICD10:D86.2" -MONDO:0019338 "ICD10:D86.9" +MONDO:0019338 "ICD10CM:D86.1" +MONDO:0019338 "ICD10CM:D86.2" MONDO:0019338 "MESH:D012507" MONDO:0019338 "OMIM:612388" -MONDO:0019338 "ICD10:D86.0" MONDO:0019338 "SCTID:31541009" -MONDO:0019338 "ICD10:D86" +MONDO:0019338 "ICD10CM:D86.8" +MONDO:0019338 "ICD10CM:D86.3" MONDO:0019338 "Orphanet:797" MONDO:0019338 "NCIT:C34995" -MONDO:0019338 "ICD10:D86.3" -MONDO:0019338 "ICD10:D86.1" -MONDO:0005566 "ICD10:P96.1" MONDO:0005566 "DOID:9828" MONDO:0005566 "UMLS:C0027609" MONDO:0005566 "ICD9:760.8" MONDO:0005566 "NCIT:C87101" MONDO:0005566 "ICD9:779.5" -MONDO:0005566 "SCTID:414819007" MONDO:0005566 "EFO:0005799" +MONDO:0005566 "SCTID:414819007" MONDO:0005566 "MESH:D009357" MONDO:0006208 "UMLS:C1517124" MONDO:0006208 "NCIT:C40099" @@ -58562,8 +57122,8 @@ MONDO:0006208 "DOID:5598" MONDO:0006208 "EFO:1000253" MONDO:0007766 "MESH:D006957" MONDO:0007766 "GARD:0008593" +MONDO:0007766 "ICD10CM:M85.2" MONDO:0007766 "SCTID:82054006" -MONDO:0007766 "ICD10:M85.2" MONDO:0007766 "Orphanet:77296" MONDO:0007766 "NCIT:C84772" MONDO:0007766 "OMIM:144800" @@ -58573,22 +57133,21 @@ MONDO:0008942 "UMLS:C1859299" MONDO:0008942 "OMIM:213100" MONDO:0001154 "DOID:10921" MONDO:0001154 "UMLS:C0549160" -MONDO:0001154 "ICD10:A77.2" MONDO:0001154 "ICD9:082.2" MONDO:0001154 "SCTID:186781003" MONDO:0032686 "OMIM:618341" MONDO:0021152 "EFO:0004420" MONDO:0016359 "NCIT:C116789" -MONDO:0016359 "ICD10:M34.0" MONDO:0016359 "SCTID:128461001" MONDO:0016359 "GARD:0009749" +MONDO:0016359 "ICD10CM:M34.0" MONDO:0016359 "Orphanet:220407" MONDO:0016359 "UMLS:C1290138" MONDO:0003490 "DOID:5527" MONDO:0003490 "UMLS:C1332251" MONDO:0003490 "NCIT:C27417" MONDO:0010066 "MESH:C563028" -MONDO:0010066 "ICD10:Q89.0" +MONDO:0010066 "ICD10CM:Q89.0" MONDO:0010066 "Orphanet:101351" MONDO:0010066 "SCTID:726708009" MONDO:0010066 "OMIM:271400" @@ -58600,7 +57159,6 @@ MONDO:0030475 "OMIM:619608" MONDO:0019735 "UMLS:C0032533" MONDO:0019735 "ICD9:725" MONDO:0019735 "UMLS:C1527406" -MONDO:0019735 "ICD10:M35.3" MONDO:0019735 "DOID:853" MONDO:0019735 "MedDRA:10068240" MONDO:0019735 "NCIT:C85018" @@ -58615,7 +57173,6 @@ MONDO:0019183 "Orphanet:77830" MONDO:0001037 "DOID:10444" MONDO:0001037 "SCTID:111520007" MONDO:0001037 "ICD9:370.02" -MONDO:0001037 "ICD10:H16.02" MONDO:0001037 "UMLS:C0155068" MONDO:0002595 "MESH:D014615" MONDO:0002595 "ICD9:999.0" @@ -58628,7 +57185,7 @@ MONDO:0009829 "UMLS:C1850101" MONDO:0032735 "OMIM:618415" MONDO:0032735 "DOID:0070354" MONDO:0017620 "Orphanet:306462" -MONDO:0017620 "ICD10:E74.3" +MONDO:0017620 "ICD10CM:E74.3" MONDO:0013668 "ICD9:758.89" MONDO:0013668 "GARD:0000035" MONDO:0013668 "SCTID:698849002" @@ -58636,13 +57193,13 @@ MONDO:0013668 "OMIM:614290" MONDO:0013668 "UMLS:C0795868" MONDO:0013668 "MESH:C538306" MONDO:0013668 "Orphanet:3307" -MONDO:0013668 "ICD10:Q99.8" +MONDO:0013668 "ICD10CM:Q99.8" MONDO:0012581 "OMIM:610915" +MONDO:0012581 "ICD10CM:Q78.0" MONDO:0012581 "Orphanet:216812" MONDO:0012581 "Orphanet:216804" MONDO:0012581 "GARD:0010152" MONDO:0012581 "Orphanet:666" -MONDO:0012581 "ICD10:Q78.0" MONDO:0012581 "DOID:0110336" MONDO:0012581 "MESH:C536049" MONDO:0044231 "OMIM:133800" @@ -58657,8 +57214,9 @@ MONDO:0007096 "OMIM:104600" MONDO:0007096 "UMLS:C0271556" MONDO:0007096 "SCTID:64678009" MONDO:0007096 "ICD9:253.1" -MONDO:0018037 "ICD10:D82.4" +MONDO:0018037 "OMIM:147060" MONDO:0018037 "OMIMPS:147060" +MONDO:0018037 "OMIM:243700" MONDO:0018037 "NCIT:C3144" MONDO:0018037 "GARD:0010956" MONDO:0018037 "UMLS:CN204280" @@ -58674,25 +57232,23 @@ MONDO:0022972 "SCTID:724136006" MONDO:0005815 "DOID:1799" MONDO:0005815 "EFO:0007331" MONDO:0005815 "NCIT:C27031" +MONDO:0005815 "ICD10CM:C25.4" MONDO:0005815 "ICDO:8150/1" -MONDO:0005815 "ICD10:C25.4" MONDO:0005815 "Orphanet:506052" MONDO:0005815 "SCTID:254611009" -MONDO:0005815 "ICD10:D13.7" MONDO:0005815 "GARD:0007311" MONDO:0032922 "OMIM:618798" MONDO:0030843 "OMIM:619101" MONDO:0037738 "SCTID:363477002" MONDO:0037738 "UMLS:C0349017" +MONDO:0016079 "ICD10CM:A81.0" MONDO:0016079 "ICD9:046.19" MONDO:0016079 "MedDRA:10011384" MONDO:0016079 "MESH:D007562" -MONDO:0016079 "ICD10:A81.0" MONDO:0016079 "Orphanet:204" MONDO:0016079 "SCTID:713060000" MONDO:0016079 "OMIM:123400" MONDO:0003082 "UMLS:C0155077" -MONDO:0003082 "ICD10:H16.12" MONDO:0003082 "SCTID:51286002" MONDO:0003082 "DOID:4664" MONDO:0003082 "ICD9:370.23" @@ -58702,9 +57258,9 @@ MONDO:0022855 "GARD:0001508" MONDO:0004413 "NCIT:C40188" MONDO:0004413 "DOID:7961" MONDO:0004413 "UMLS:C1518366" +MONDO:0018108 "ICD10CM:B25.8" MONDO:0018108 "Orphanet:35062" MONDO:0018108 "UMLS:CN204469" -MONDO:0018108 "ICD10:B25.8" MONDO:0006599 "SCTID:402601007" MONDO:0006599 "EFO:1000754" MONDO:0006599 "DOID:0060220" @@ -58716,11 +57272,10 @@ MONDO:0005971 "MESH:D013202" MONDO:0005971 "ICD9:005.0" MONDO:0005971 "EFO:0007497" MONDO:0005971 "UMLS:C0038159" -MONDO:0005971 "ICD10:A05.0" MONDO:0054559 "Orphanet:435934" MONDO:0054559 "OMIM:617395" -MONDO:0054559 "ICD10:E77.8" MONDO:0054559 "UMLS:C4479353" +MONDO:0054559 "ICD10CM:E77.8" MONDO:0054559 "DOID:0070269" CL:1000435 "FMA:70559" NCBITaxon:688353 "GC_ID:1" @@ -58742,16 +57297,15 @@ MONDO:0017349 "UMLS:C1302808" MONDO:0017349 "NCIT:C50401" MONDO:0017349 "ONCOTREE:MPC" MONDO:0018423 "UMLS:CN226130" -MONDO:0018423 "ICD10:G11.4" +MONDO:0018423 "ICD10CM:G11.4" MONDO:0018423 "Orphanet:401840" MONDO:0008534 "Orphanet:280774" MONDO:0008534 "UMLS:C0473555" MONDO:0008534 "OMIM:187260" MONDO:0008534 "SCTID:238763007" +MONDO:0012197 "ICD10CM:D61.3" MONDO:0012197 "OMIM:609135" MONDO:0012197 "OMIM:614742" -MONDO:0012197 "ICD10:D61.0" -MONDO:0012197 "ICD10:D61.3" MONDO:0012197 "OMIM:614743" MONDO:0012197 "NCIT:C61230" MONDO:0012197 "UMLS:C0348890" @@ -58762,11 +57316,11 @@ MONDO:0012197 "SCTID:191256002" NCBITaxon:110618 "GC_ID:1" MONDO:0014330 "UMLS:C3810402" MONDO:0014330 "OMIM:615749" -MONDO:0016548 "ICD10:Q62.7" +MONDO:0016548 "ICD10CM:Q62.7" MONDO:0016548 "SCTID:253904001" MONDO:0016548 "Orphanet:238637" NCBITaxon:40005 "GC_ID:1" -MONDO:0019924 "ICD10:Q99.8" +MONDO:0019924 "ICD10CM:Q99.8" MONDO:0019924 "Orphanet:96194" MONDO:0019924 "UMLS:C4275028" MONDO:0019924 "SCTID:715736008" @@ -58774,14 +57328,13 @@ MONDO:0011392 "DOID:0110478" MONDO:0011392 "OMIM:604060" MONDO:0011392 "MESH:C565828" MONDO:0011392 "UMLS:C1858840" -MONDO:0011392 "ICD10:H90.3" MONDO:0012034 "MESH:C564242" MONDO:0012034 "DOID:0110304" MONDO:0012034 "OMIM:608423" MONDO:0012034 "Orphanet:55595" MONDO:0012034 "GARD:0012530" MONDO:0012034 "SCTID:719989007" -MONDO:0012034 "ICD10:G71.0" +MONDO:0012034 "ICD10CM:G71.0" MONDO:0013592 "SCTID:87065009" MONDO:0013592 "ICD9:703.8" MONDO:0013592 "UMLS:C3279947" @@ -58790,42 +57343,34 @@ MONDO:0013592 "Orphanet:90390" MONDO:0013592 "DOID:0080087" MONDO:0013592 "OMIM:614149" MONDO:0002027 "NCIT:C92636" -MONDO:0002027 "ICD10:F60.6" MONDO:0002027 "DOID:1509" MONDO:0002027 "ICD9:301.82" +MONDO:0002027 "ICD10CM:F60.6" MONDO:0002027 "SCTID:231528008" MONDO:0018727 "Orphanet:459348" +MONDO:0006618 "ICD10CM:L50.4" MONDO:0006618 "UMLS:C0157743" MONDO:0006618 "GARD:0009806" MONDO:0006618 "DOID:1554" -MONDO:0006618 "ICD10:L50.4" MONDO:0006618 "SCTID:51247001" MONDO:0006618 "EFO:1000775" MONDO:0006618 "Wikipedia:Urticaria#Vibratory_angioedema" MONDO:0006618 "ICD9:708.4" -MONDO:0021002 "ICD10:Q70" -MONDO:0021002 "ICD10:Q70.2" MONDO:0021002 "NCIT:C87125" MONDO:0021002 "OMIM:186300" -MONDO:0021002 "ICD10:Q70.0" -MONDO:0021002 "ICD10:Q70.4" MONDO:0021002 "OMIM:186100" -MONDO:0021002 "ICD10:Q70.1" MONDO:0021002 "MedDRA:10042778" MONDO:0021002 "OMIM:186200" MONDO:0021002 "ICD9:755.1" -MONDO:0021002 "ICD10:Q70.3" MONDO:0021002 "UMLS:C0039075" MONDO:0021002 "OMIM:185900" MONDO:0021002 "HP:0001159" -MONDO:0021002 "ICD10:Q70.9" MONDO:0021002 "DOID:11193" -MONDO:0018610 "ICD10:H26.0" MONDO:0018610 "Orphanet:441447" +MONDO:0018610 "ICD10CM:H26.0" MONDO:0018610 "UMLS:CN237646" MONDO:0009975 "DOID:8538" MONDO:0009975 "OMIM:267730" -MONDO:0009975 "ICD10:C96.4" MONDO:0009975 "ICD9:200.7" MONDO:0009975 "MedDRA:10038804" MONDO:0009975 "NCIT:C27824" @@ -58833,18 +57378,18 @@ MONDO:0009975 "ICD9:200.0" MONDO:0009975 "Orphanet:86900" MONDO:0009975 "EFO:0005287" MONDO:0009975 "ICD9:200.00" +MONDO:0009975 "ICD10CM:C96.4" MONDO:0009975 "SCTID:373168002" MONDO:0014213 "UMLS:C3809686" MONDO:0014213 "Orphanet:363611" -MONDO:0014213 "ICD10:Q87.8" +MONDO:0014213 "ICD10CM:Q87.8" MONDO:0014213 "DOID:0070051" MONDO:0014213 "OMIM:615502" NCBITaxon:6247 "GC_ID:1" MONDO:0015536 "SCTID:765221009" -MONDO:0015536 "ICD10:D76.3" +MONDO:0015536 "ICD10CM:D76.3" MONDO:0015536 "UMLS:CN199692" MONDO:0015536 "Orphanet:158008" -MONDO:0017989 "ICD10:I47.1" MONDO:0017989 "NCIT:C111646" MONDO:0017989 "SCTID:233901002" MONDO:0017989 "Orphanet:3283" @@ -58855,14 +57400,13 @@ MONDO:0017989 "GARD:0002706" MONDO:0019278 "Orphanet:79363" MONDO:0018935 "ICDO:9940/3" MONDO:0018935 "Orphanet:58017" -MONDO:0018935 "ICD10:C91.4" MONDO:0018935 "MedDRA:10019055" +MONDO:0018935 "ICD10CM:C91.4" MONDO:0018935 "UMLS:C0023443" MONDO:0018935 "NCIT:C7402" MONDO:0018935 "MESH:D007943" MONDO:0018935 "SCTID:118613001" MONDO:0018935 "ONCOTREE:HCL" -MONDO:0018935 "ICD10:C91.40" MONDO:0018935 "DOID:285" MONDO:0018935 "EFO:1000956" MONDO:0018935 "ICD9:202.4" @@ -58875,28 +57419,28 @@ MONDO:0003429 "DOID:5395" MONDO:0002406 "EFO:1000636" MONDO:0002406 "NCIT:C2983" MONDO:0002406 "MESH:D003872" -MONDO:0002406 "ICD10:L30.9" -MONDO:0002406 "DOID:2723" MONDO:0002406 "ICD9:692.9" +MONDO:0002406 "DOID:2723" MONDO:0002406 "SCTID:43116000" +MONDO:0002406 "ICD10CM:L20-L30" MONDO:0002406 "UMLS:C0011603" MONDO:0010252 "OMIM:300123" MONDO:0010252 "Orphanet:631" MONDO:0010252 "Orphanet:231692" MONDO:0010252 "Orphanet:67045" -MONDO:0022404 "Orphanet:156177" MONDO:0000245 "DOID:0050116" +MONDO:0000245 "ICD10CM:B35.5" MONDO:0000245 "UMLS:C0040255" MONDO:0000245 "SCTID:240699006" -MONDO:0000245 "ICD10:B35.5" +MONDO:0022404 "Orphanet:156177" +MONDO:0017715 "ICD10CM:E71.3" MONDO:0017715 "OMIM:231530" -MONDO:0017715 "ICD10:E71.3" MONDO:0017715 "Orphanet:309127" MONDO:0032851 "OMIM:618653" MONDO:0015441 "SCTID:765489006" MONDO:0015441 "NCIT:C121986" -MONDO:0015441 "ICD10:Q93.2" MONDO:0015441 "MESH:C537813" +MONDO:0015441 "ICD10CM:Q93.2" MONDO:0015441 "GARD:0001345" MONDO:0015441 "Orphanet:1449" MONDO:0004836 "SCTID:254738007" @@ -58904,26 +57448,26 @@ MONDO:0004836 "ICD9:728.79" MONDO:0004836 "NCIT:C4729" MONDO:0004836 "DOID:9603" MONDO:0004836 "UMLS:C0432529" -MONDO:0006805 "ICD10:I20.0" MONDO:0006805 "NCIT:C66911" MONDO:0006805 "MedDRA:10022554" +MONDO:0006805 "ICD10CM:I20.0" MONDO:0006805 "DOID:8805" MONDO:0006805 "UMLS:C0002965" MONDO:0006805 "MESH:D000789" MONDO:0006805 "EFO:1000985" MONDO:0006805 "ICD9:411.1" MONDO:0015818 "Orphanet:178554" +MONDO:0018593 "ICD10CM:M30.0" MONDO:0018593 "UMLS:CN237623" MONDO:0018593 "Orphanet:439737" -MONDO:0018593 "ICD10:M30.0" MONDO:0012431 "MESH:C565710" MONDO:0012431 "OMIM:610187" MONDO:0012431 "Orphanet:2140" MONDO:0015419 "SCTID:403557001" MONDO:0015419 "ICD9:744.89" -MONDO:0015419 "ICD10:Q18.8" +MONDO:0015419 "ICD10CM:Q18.8" MONDO:0015419 "Orphanet:141288" -MONDO:0016977 "ICD10:C37" +MONDO:0016977 "ICD10CM:C37" MONDO:0016977 "Orphanet:263335" MONDO:0016977 "UMLS:CN202279" NCBITaxon:91827 "GC_ID:1" @@ -58948,8 +57492,8 @@ MONDO:0002760 "DOID:3742" MONDO:0002760 "EFO:1000130" MONDO:0002760 "SCTID:255111004" MONDO:0002760 "UMLS:C0279681" +MONDO:0016882 "ICD10CM:Q93.5" MONDO:0016882 "Orphanet:261846" -MONDO:0016882 "ICD10:Q93.5" NCBITaxon:10255 "GC_ID:1" HP:0000926 "UMLS:C1844704" MONDO:0013833 "OMIM:614629" @@ -58961,14 +57505,14 @@ HP:0009826 "UMLS:C0239399" MONDO:0017581 "UMLS:CN203384" MONDO:0017581 "OMIM:300942" MONDO:0017581 "Orphanet:300373" -MONDO:0017581 "ICD10:E22.0" +MONDO:0017581 "ICD10CM:E22.0" MONDO:0100383 "NCIT:C168764" NCBITaxon:163343 "GC_ID:1" MONDO:0008137 "Orphanet:2756" MONDO:0008137 "DOID:0060380" MONDO:0008137 "UMLS:C1833796" +MONDO:0008137 "ICD10CM:Q87.0" MONDO:0008137 "SCTID:722075004" -MONDO:0008137 "ICD10:Q87.0" MONDO:0008137 "OMIM:165590" MONDO:0008137 "MESH:C563491" MONDO:0008137 "GARD:0004061" @@ -58995,20 +57539,20 @@ MONDO:0011875 "Orphanet:307" HP:0003581 "UMLS:C1853562" MONDO:0015264 "NCIT:C62586" MONDO:0015264 "DOID:0050157" -MONDO:0015264 "ICD10:J84.116" -MONDO:0015264 "ICD10:J84.1" MONDO:0015264 "EFO:1001300" +MONDO:0015264 "ICD10CM:J84.1" MONDO:0015264 "UMLS:C0242770" MONDO:0015264 "Orphanet:1302" MONDO:0015264 "SCTID:719218000" MONDO:0015264 "MESH:D018549" MONDO:0015264 "GARD:0001620" MONDO:0015264 "ICD9:516.36" +MONDO:0015264 "ICD10CM:J84.116" MONDO:0010660 "OMIM:309549" MONDO:0010660 "Orphanet:777" MONDO:0010660 "MESH:C563137" MONDO:0010660 "UMLS:C0796215" -MONDO:0017464 "ICD10:Q74.2" +MONDO:0017464 "ICD10CM:Q74.2" MONDO:0017464 "Orphanet:295022" MONDO:0044621 "Orphanet:485405" MONDO:0013024 "SCTID:233947005" @@ -59024,13 +57568,13 @@ MONDO:0013200 "MESH:C567681" MONDO:0013200 "OMIM:613255" MONDO:0013200 "UMLS:C2750459" MONDO:0009578 "Orphanet:2481" -MONDO:0009578 "ICD10:D22.4" MONDO:0009578 "MESH:C537387" -MONDO:0009578 "ICD10:D22.7" -MONDO:0009578 "ICD10:D22.5" +MONDO:0009578 "ICD10CM:D22.5" MONDO:0009578 "GARD:0007186" -MONDO:0009578 "ICD10:D22.6" -MONDO:0009578 "ICD10:D22.3" +MONDO:0009578 "ICD10CM:D22.6" +MONDO:0009578 "ICD10CM:D22.3" +MONDO:0009578 "ICD10CM:D22.7" +MONDO:0009578 "ICD10CM:D22.4" MONDO:0009578 "OMIM:249400" MONDO:0006892 "DOID:3330" MONDO:0006892 "EFO:1001090" @@ -59040,8 +57584,8 @@ MONDO:0009407 "UMLS:C1855885" MONDO:0009407 "MESH:C565490" MONDO:0007710 "GARD:0007338" MONDO:0007710 "Orphanet:1214" -MONDO:0007710 "ICD10:G51.8" MONDO:0007710 "NCIT:C84703" +MONDO:0007710 "ICD10CM:G51.8" MONDO:0007710 "NCIT:C116916" MONDO:0007710 "DOID:1757" MONDO:0007710 "OMIM:141300" @@ -59056,7 +57600,7 @@ MONDO:0001239 "UMLS:C0158996" MONDO:0001239 "ICD9:776.6" MONDO:0001239 "NCIT:C97167" MONDO:0001239 "SCTID:47100003" -MONDO:0001239 "ICD10:P61.2" +MONDO:0001239 "ICD10CM:P61.2" MONDO:0001239 "DOID:11243" MONDO:0021237 "NCIT:C4856" MONDO:0021237 "UMLS:C0596046" @@ -59066,15 +57610,14 @@ MONDO:0011242 "DOID:0110145" MONDO:0011242 "Orphanet:112" MONDO:0011242 "Orphanet:89938" MONDO:0011242 "OMIM:602522" -MONDO:0011242 "ICD10:E26.8" MONDO:0017685 "UMLS:CN203582" +MONDO:0017685 "ICD10CM:E71.1" MONDO:0017685 "OMIM:277410" -MONDO:0017685 "ICD10:E71.1" MONDO:0017685 "Orphanet:308442" MONDO:0016431 "OMIM:606482" MONDO:0016431 "UMLS:C4304672" -MONDO:0016431 "ICD10:G60.0" MONDO:0016431 "Orphanet:228179" +MONDO:0016431 "ICD10CM:G60.0" MONDO:0016431 "SCTID:719514002" MONDO:0016431 "UMLS:CN201389" MONDO:0016808 "Orphanet:254871" @@ -59083,26 +57626,25 @@ MONDO:0016808 "UMLS:CN069134" MONDO:0016808 "UMLS:C3711385" HP:0008776 "UMLS:C4024624" MONDO:0011309 "UMLS:C1863959" +MONDO:0011309 "ICD10CM:E05.8" MONDO:0011309 "MESH:C566384" MONDO:0011309 "ICD9:242.80" MONDO:0011309 "Orphanet:99819" MONDO:0011309 "OMIM:603373" -MONDO:0011309 "ICD10:E05.8" MONDO:0011309 "ICD9:648.10" MONDO:0011309 "SCTID:703309000" CL:0000365 "BTO:0000854" CL:0000365 "EHDAA2:0004546" CL:0000365 "FMA:72395" MONDO:0013421 "UMLS:C3151080" -MONDO:0013421 "ICD10:D84.1" MONDO:0013421 "OMIM:613789" MONDO:0013421 "Orphanet:169150" MONDO:0013421 "GARD:0010625" MONDO:0013421 "HGNC:1353" MONDO:0013421 "DOID:0060302" MONDO:0016409 "Orphanet:226295" -MONDO:0016409 "ICD10:E03.0" -MONDO:0016409 "ICD10:E03.1" +MONDO:0016409 "ICD10CM:E03.0" +MONDO:0016409 "ICD10CM:E03.1" MONDO:0042969 "MESH:C538300" MONDO:0042969 "GARD:0001926" MONDO:0042969 "UMLS:C0795846" @@ -59110,7 +57652,6 @@ MONDO:0013509 "UMLS:C3151411" MONDO:0013509 "DOID:0070036" MONDO:0013509 "OMIM:613970" MONDO:0007955 "NCIT:C12264" -MONDO:0007955 "ICD10:Q43.0" MONDO:0007955 "DOID:9487" MONDO:0007955 "OMIM:155140" MONDO:0007955 "MESH:D008467" @@ -59120,10 +57661,10 @@ MONDO:0007955 "ICD9:751.0" MONDO:0007955 "MedDRA:10027055" NCBITaxon:6249 "GC_ID:1" CL:0002368 "BTO:0004533" -MONDO:0017872 "ICD10:A96.8" MONDO:0017872 "DOID:0050202" MONDO:0017872 "UMLS:CN203921" MONDO:0017872 "Orphanet:319213" +MONDO:0017872 "ICD10CM:A96.8" MONDO:0017872 "SCTID:716585008" MONDO:0017872 "UMLS:C4274433" NCBITaxon:106178 "GC_ID:11" @@ -59137,11 +57678,10 @@ MONDO:0014823 "OMIM:616900" MONDO:0014823 "Orphanet:488632" NCBITaxon:32523 "GC_ID:1" MONDO:0030059 "OMIM:618916" +MONDO:0017013 "ICD10CM:Q92.2" MONDO:0017013 "MESH:C538019" -MONDO:0017013 "ICD10:Q92.2" MONDO:0017013 "Orphanet:264450" MONDO:0004838 "UMLS:C0232867" -MONDO:0004838 "ICD10:R80.2" MONDO:0004838 "ICD9:593.6" MONDO:0004838 "DOID:9617" MONDO:0000904 "DOID:0090131" @@ -59151,17 +57691,17 @@ MONDO:0006807 "EFO:1000987" MONDO:0006807 "ICD9:777.6" MONDO:0006807 "MESH:D007416" MONDO:0006807 "MedDRA:10022694" +MONDO:0006807 "ICD10CM:P78.0" MONDO:0006807 "SCTID:56905009" MONDO:0006807 "NCIT:C39611" MONDO:0006807 "DOID:2074" -MONDO:0006807 "ICD10:P78.0" MONDO:0006807 "UMLS:C0021845" MONDO:0006807 "ICD9:569.83" MONDO:0007838 "OMIM:147791" MONDO:0007838 "NCIT:C75457" MONDO:0007838 "DOID:0111723" -MONDO:0007838 "ICD10:Q93.5" MONDO:0007838 "UMLS:C0795841" +MONDO:0007838 "ICD10CM:Q93.5" MONDO:0007838 "GARD:0000307" MONDO:0007838 "SCTID:715438008" MONDO:0007838 "Orphanet:2308" @@ -59179,7 +57719,6 @@ CL:0000586 "WBbt:0006796" CL:0000586 "VHOG:0001534" CL:0000586 "BTO:0000535" MONDO:0007040 "Orphanet:3128" -MONDO:0007040 "ICD10:Q87.0" MONDO:0007040 "OMIM:101120" MONDO:0007040 "DOID:0060359" MONDO:0007040 "UMLS:C1275079" @@ -59200,10 +57739,10 @@ MONDO:0003849 "ICD9:170.0" MONDO:0003849 "DOID:6312" MONDO:0003849 "UMLS:C1333071" MONDO:0008389 "ICD9:759.89" -MONDO:0008389 "ICD10:Q87.1" MONDO:0008389 "UMLS:C0265205" MONDO:0008389 "Orphanet:97360" MONDO:0008389 "SCTID:76520005" +MONDO:0008389 "ICD10CM:Q87.1" MONDO:0008389 "Orphanet:3107" MONDO:0008389 "OMIM:616331" MONDO:0008389 "UMLS:CN203673" @@ -59212,10 +57751,10 @@ MONDO:0008389 "OMIM:616894" MONDO:0030872 "OMIM:619132" MONDO:0018454 "Orphanet:404568" MONDO:0014018 "DOID:0110806" -MONDO:0014018 "ICD10:G11.4" MONDO:0014018 "UMLS:C3539495" MONDO:0014018 "UMLS:C4510083" MONDO:0014018 "OMIM:615033" +MONDO:0014018 "ICD10CM:G11.4" MONDO:0014018 "Orphanet:320380" MONDO:0014018 "SCTID:723824005" MONDO:0003295 "MESH:D018231" @@ -59225,7 +57764,6 @@ MONDO:0003295 "ICDO:8890/1" MONDO:0003295 "DOID:5138" MONDO:0004626 "DOID:8642" MONDO:0004626 "NCIT:C26956" -MONDO:0001983 "ICD10:H18.46" MONDO:0001983 "DOID:14507" MONDO:0001983 "UMLS:C0155123" MONDO:0001983 "ICD9:371.48" @@ -59235,21 +57773,21 @@ HP:0100716 "MSH:D016728" HP:0100716 "UMLS:C0085271" MONDO:0015359 "UMLS:CN228926" MONDO:0015359 "Orphanet:140453" -MONDO:0015359 "ICD10:G60.0" +MONDO:0015359 "ICD10CM:G60.0" MONDO:0019790 "DOID:14464" MONDO:0019790 "SCTID:15244003" MONDO:0019790 "Orphanet:94093" MONDO:0019790 "MedDRA:10029282" -MONDO:0019790 "ICD10:G21.0" MONDO:0019790 "ICD9:333.92" MONDO:0019790 "MESH:D009459" +MONDO:0019790 "ICD10CM:G21.0" MONDO:0019790 "UMLS:C0027849" MONDO:0019790 "EFO:1001379" MONDO:0019790 "NCIT:C94829" MONDO:0019790 "GARD:0007195" MONDO:0013259 "UMLS:C3150678" -MONDO:0013259 "Orphanet:75382" MONDO:0013259 "OMIM:613411" +MONDO:0013259 "Orphanet:75382" MONDO:0013259 "DOID:0110713" MONDO:0015114 "UMLS:CN197471" MONDO:0015114 "Orphanet:101939" @@ -59284,7 +57822,7 @@ MONDO:0018820 "UMLS:C4225171" MONDO:0018820 "Orphanet:480864" MONDO:0018820 "UMLS:CN776869" MONDO:0018820 "GARD:0013423" -MONDO:0024356 "ICD10:G47.31" +MONDO:0024356 "ICD10CM:G47.31" MONDO:0024356 "SCTID:9741000119101" MONDO:0024356 "ICD9:327.21" MONDO:0024356 "UMLS:C0751762" @@ -59297,20 +57835,15 @@ MONDO:0013677 "UMLS:C3553060" MONDO:0013677 "DOID:0070252" MONDO:0013677 "Orphanet:98853" MONDO:0013677 "Orphanet:261" -MONDO:0006671 "SCTID:2918000" -MONDO:0006671 "EFO:1000832" -MONDO:0006671 "MESH:D001442" -MONDO:0006671 "UMLS:C0004669" -MONDO:0006671 "ICD9:041.84" MONDO:0018866 "OMIM:612952" MONDO:0018866 "Orphanet:51" -MONDO:0018866 "ICD10:G31.8" MONDO:0018866 "OMIM:615846" MONDO:0018866 "OMIM:610181" MONDO:0018866 "OMIM:615010" MONDO:0018866 "GARD:0000575" MONDO:0018866 "OMIM:610329" MONDO:0018866 "SCTID:230312006" +MONDO:0018866 "ICD10CM:G31.8" MONDO:0018866 "ICD9:333.0" MONDO:0018866 "OMIM:610333" MONDO:0018866 "OMIM:225750" @@ -59318,6 +57851,11 @@ MONDO:0018866 "DOID:0050629" MONDO:0018866 "MESH:C535607" MONDO:0018866 "OMIM:114100" MONDO:0018866 "OMIMPS:225750" +MONDO:0006671 "SCTID:2918000" +MONDO:0006671 "EFO:1000832" +MONDO:0006671 "MESH:D001442" +MONDO:0006671 "UMLS:C0004669" +MONDO:0006671 "ICD9:041.84" MONDO:0021239 "EFO:0003846" MONDO:0021239 "NCIT:C3428" MONDO:0018046 "GARD:0005193" @@ -59335,18 +57873,18 @@ MONDO:0010465 "OMIM:300867" MONDO:0010465 "Orphanet:2322" MONDO:0005776 "UMLS:C0018013" MONDO:0005776 "GARD:0009286" +MONDO:0005776 "ICD10CM:B83.1" MONDO:0005776 "ICD9:128.1" MONDO:0005776 "DOID:11379" MONDO:0005776 "NCIT:C128395" -MONDO:0005776 "ICD10:B83.1" MONDO:0005776 "SCTID:44086001" MONDO:0005776 "EFO:0007289" MONDO:0005776 "MESH:D058429" MONDO:0020530 "Orphanet:99898" MONDO:0020530 "MESH:C535530" -MONDO:0020530 "ICD10:D84.8" MONDO:0020530 "GARD:0003011" MONDO:0020530 "UMLS:C2930924" +MONDO:0020530 "ICD10CM:D84.8" MONDO:0020530 "OMIM:209950" MONDO:0008030 "MESH:C536391" MONDO:0008030 "DOID:0111192" @@ -59357,7 +57895,6 @@ MONDO:0009273 "Orphanet:99927" MONDO:0009273 "Orphanet:254688" MONDO:0009273 "UMLS:C3463897" MONDO:0009273 "OMIM:231090" -MONDO:0012644 "ICD10:Q77.2" MONDO:0012644 "UMLS:C1970005" MONDO:0012644 "MESH:C566982" MONDO:0012644 "OMIM:611263" @@ -59372,24 +57909,24 @@ MONDO:0017287 "DOID:0080356" MONDO:0017287 "Orphanet:284264" MONDO:0008168 "MedDRA:10064257" MONDO:0008168 "UMLS:C0149951" -MONDO:0008168 "ICD10:D27" MONDO:0008168 "SCTID:254865006" MONDO:0008168 "MESH:C562391" MONDO:0008168 "Orphanet:314473" MONDO:0008168 "HP:0010618" MONDO:0008168 "OMIM:166970" +MONDO:0008168 "ICD10CM:D27" MONDO:0008168 "NCIT:C3498" NCBITaxon:131567 "GC_ID:1" MONDO:0011517 "OMIM:605115" MONDO:0011517 "MESH:C565359" -MONDO:0011517 "ICD10:I15.1" +MONDO:0011517 "ICD10CM:I15.1" MONDO:0011517 "UMLS:C1854631" MONDO:0011517 "SCTID:766937004" MONDO:0011517 "Orphanet:88660" MONDO:0016921 "SCTID:726338000" MONDO:0016921 "Orphanet:262191" MONDO:0014292 "Orphanet:363540" -MONDO:0014292 "ICD10:E75.2" +MONDO:0014292 "ICD10CM:E75.2" MONDO:0014292 "OMIM:615651" MONDO:0014292 "NCIT:C171603" MONDO:0014292 "UMLS:C3810242" @@ -59406,17 +57943,17 @@ MONDO:0012980 "Orphanet:199332" MONDO:0012980 "DOID:0060641" MONDO:0012980 "SCTID:723309006" MONDO:0012980 "UMLS:C4509819" -MONDO:0012980 "ICD10:Q87.8" +MONDO:0012980 "ICD10CM:Q87.8" MONDO:0012980 "OMIM:612651" MONDO:0012980 "MESH:C567210" -MONDO:0020413 "ICD10:Q25.4" +MONDO:0020413 "ICD10CM:Q25.4" MONDO:0020413 "Orphanet:99075" MONDO:0020413 "SCTID:764521002" MONDO:0002973 "ICDO:8771/3" MONDO:0002973 "UMLS:C0334443" MONDO:0002973 "DOID:4360" MONDO:0002973 "NCIT:C4236" -MONDO:0019393 "ICD10:K90.8" +MONDO:0019393 "ICD10CM:K90.8" MONDO:0019393 "Orphanet:84065" MONDO:0021668 "MESH:D010146" MONDO:0021668 "UMLS:C1300028" @@ -59424,32 +57961,32 @@ MONDO:0021668 "DOID:0060164" MONDO:0021668 "SCTID:373673007" MONDO:0025159 "MESH:D045729" MONDO:0025159 "UMLS:C1258090" -MONDO:0016275 "ICD10:C53.1" -MONDO:0016275 "Orphanet:213772" -MONDO:0016275 "ICD10:C53.0" -MONDO:0016275 "ICD10:C53.8" MONDO:0019222 "ICD9:270.4" +MONDO:0019222 "ICD10CM:E72.1" MONDO:0019222 "Orphanet:79173" -MONDO:0019222 "ICD10:E72.1" MONDO:0019222 "SCTID:28882002" MONDO:0019222 "UMLS:CN227589" -MONDO:0010758 "ICD10:G71.8" +MONDO:0016275 "ICD10CM:C53.0" +MONDO:0016275 "ICD10CM:C53.1" +MONDO:0016275 "ICD10CM:C53.8" +MONDO:0016275 "Orphanet:213772" +MONDO:0010758 "ICD10CM:G71.8" MONDO:0010758 "MESH:C537472" +MONDO:0010758 "ICD10CM:Q87.8" MONDO:0010758 "SCTID:722456001" MONDO:0010758 "Orphanet:85283" MONDO:0010758 "Orphanet:3454" MONDO:0010758 "SCTID:719012009" MONDO:0010758 "MESH:C536703" -MONDO:0010758 "ICD10:Q87.8" MONDO:0010758 "DOID:0060815" MONDO:0010758 "OMIM:314580" MONDO:0010758 "GARD:0009984" MONDO:0010758 "GARD:0007890" MONDO:0013226 "UMLS:C2750068" MONDO:0013226 "OMIM:613328" +MONDO:0013226 "ICD10CM:Q87.8" MONDO:0013226 "Orphanet:221139" MONDO:0013226 "MESH:C567641" -MONDO:0013226 "ICD10:Q87.8" MONDO:0021445 "UMLS:C0347197" MONDO:0021445 "ICD9:210.4" MONDO:0021445 "SCTID:419645003" @@ -59473,8 +58010,8 @@ MONDO:0013131 "SCTID:253879006" MONDO:0013131 "OMIM:613095" MONDO:0013131 "DOID:0110859" MONDO:0013131 "Orphanet:730" +MONDO:0017677 "ICD10CM:Q82.8" MONDO:0017677 "SCTID:400115004" -MONDO:0017677 "ICD10:Q82.8" MONDO:0017677 "Orphanet:308013" MONDO:0017677 "UMLS:C1302839" MONDO:0008554 "UMLS:C3277671" @@ -59495,7 +58032,6 @@ MONDO:0000709 "CSP:1248-5305" MONDO:0000709 "NCIT:C35329" MONDO:0000709 "ICD9:558.9" MONDO:0000709 "UMLS:C0020877" -MONDO:0000709 "ICD10:K52.9" MONDO:0000709 "DOID:0060189" MONDO:0000709 "SCTID:52457000" MONDO:0000709 "MESH:D007079" @@ -59504,16 +58040,16 @@ MONDO:0000709 "MedDRA:10021312" MONDO:0009500 "UMLS:C1855588" MONDO:0009500 "OMIM:245300" MONDO:0008730 "SCTID:124220008" -MONDO:0008730 "ICD10:E25.0" +MONDO:0008730 "ICD10CM:E25.0" MONDO:0008730 "GARD:0001469" MONDO:0008730 "ICD9:277.6" -MONDO:0008730 "Orphanet:418" MONDO:0008730 "Orphanet:90793" +MONDO:0008730 "Orphanet:418" MONDO:0008730 "OMIM:202110" MONDO:0012393 "UMLS:C1864910" +MONDO:0012393 "ICD10CM:E72.8" MONDO:0012393 "OMIM:610015" MONDO:0012393 "GARD:0009848" -MONDO:0012393 "ICD10:E72.8" MONDO:0012393 "Orphanet:71278" MONDO:0012393 "MESH:C536832" MONDO:0004134 "NCIT:C5569" @@ -59532,8 +58068,9 @@ MONDO:0032526 "OMIM:618093" MONDO:0024429 "NCIT:C116362" MONDO:0024429 "MESH:D062026" MONDO:0022177 "MESH:C535485" -MONDO:0022177 "UMLS:C0795849" -MONDO:0019651 "ICD10:N04.3" +MONDO:0022177 "GARD:0001929" +MONDO:0022177 "Orphanet:262932" +MONDO:0019651 "ICD10CM:N04.3" MONDO:0019651 "Orphanet:93209" MONDO:0019651 "UMLS:CN206523" MONDO:0020133 "Orphanet:98519" @@ -59545,12 +58082,11 @@ MONDO:0005208 "UMLS:C0349515" MONDO:0005208 "EFO:0002894" MONDO:0005208 "DOID:10054" MONDO:0004492 "ICD9:519.2" -MONDO:0004492 "ICD10:J98.51" +MONDO:0004492 "ICD10CM:J98.51" MONDO:0004492 "SCTID:47597000" MONDO:0004492 "NCIT:C26827" MONDO:0004492 "DOID:819" MONDO:0004492 "MESH:D008480" -MONDO:0004492 "ICD10:J98.5" MONDO:0004492 "UMLS:C0025064" MONDO:0005575 "SCTID:408645001" MONDO:0005575 "NCIT:C5105" @@ -59564,7 +58100,6 @@ MONDO:0005575 "NCIT:C2955" MONDO:0005575 "OMIM:612229" MONDO:0005575 "OMIM:612590" MONDO:0005575 "DOID:5672" -MONDO:0005575 "ICD10:C18.9" MONDO:0005575 "OMIM:612231" MONDO:0005575 "SCTID:363510005" MONDO:0005575 "OMIM:612230" @@ -59597,8 +58132,8 @@ MONDO:0008951 "UMLS:C1859257" MONDO:0005720 "SCTID:70090004" MONDO:0005720 "MESH:D015605" MONDO:0005720 "EFO:0007225" +MONDO:0005720 "ICD10CM:B08.010" MONDO:0005720 "ICD9:051.01" -MONDO:0005720 "ICD10:B08.010" MONDO:0005720 "DOID:8956" MONDO:0005720 "UMLS:C0010232" MONDO:0009462 "UMLS:C1855737" @@ -59614,7 +58149,7 @@ MONDO:0011338 "DOID:0060010" MONDO:0011338 "GARD:0008198" MONDO:0011338 "OMIM:603554" MONDO:0011338 "UMLS:C1801959" -MONDO:0011338 "ICD10:D81.8" +MONDO:0011338 "ICD10CM:D81.8" MONDO:0011338 "NCIT:C61240" MONDO:0011338 "SCTID:722067005" MONDO:0011338 "Orphanet:39041" @@ -59622,7 +58157,6 @@ MONDO:0011338 "MedDRA:10069097" MONDO:0006649 "MESH:D018917" MONDO:0006649 "EFO:1000809" MONDO:0006649 "MedDRA:10068250" -MONDO:0006649 "ICD10:H47.01" MONDO:0006649 "ICD9:377.41" MONDO:0006649 "GARD:0009790" MONDO:0006649 "DOID:12010" @@ -59630,10 +58164,10 @@ MONDO:0006649 "SCTID:404659001" MONDO:0006649 "UMLS:C0155305" HP:0004332 "UMLS:C0427546" HP:0004332 "SNOMEDCT_US:250284007" -MONDO:0017183 "ICD10:E16.1" MONDO:0017183 "SCTID:721834007" MONDO:0017183 "Orphanet:276556" MONDO:0017183 "UMLS:C4303082" +MONDO:0017183 "ICD10CM:E16.1" MONDO:0005074 "NCIT:C3777" MONDO:0005074 "ICDO:8450/3" MONDO:0005074 "GARD:0010162" @@ -59641,7 +58175,7 @@ MONDO:0005074 "MESH:D018283" MONDO:0005074 "UMLS:C0206700" MONDO:0005074 "EFO:0000639" MONDO:0005074 "DOID:3110" -MONDO:0015871 "ICD10:D48.6" +MONDO:0015871 "ICD10CM:D48.6" MONDO:0015871 "NCIT:C5196" MONDO:0015871 "ONCOTREE:BPT" MONDO:0015871 "DOID:1631" @@ -59672,25 +58206,22 @@ MONDO:0013196 "DOID:0070270" MONDO:0001350 "DOID:11746" MONDO:0001350 "UMLS:C0153581" MONDO:0001350 "SCTID:448674007" -MONDO:0001350 "ICD10:C57.3" MONDO:0001350 "ICD9:183.4" MONDO:0007253 "MESH:C566179" MONDO:0007253 "UMLS:C1861915" MONDO:0007253 "OMIM:114450" MONDO:0014142 "Orphanet:363623" +MONDO:0014142 "ICD10CM:G71.2" MONDO:0014142 "GARD:0012544" MONDO:0014142 "UMLS:C3714932" -MONDO:0014142 "ICD10:G71.2" MONDO:0014142 "OMIM:615352" -MONDO:0014142 "ICD10:G71.0" +MONDO:0014142 "ICD10CM:G71.0" MONDO:0014142 "DOID:0110294" MONDO:0010630 "OMIM:308290" MONDO:0005941 "DOID:5875" -MONDO:0005941 "ICD10:C48" MONDO:0005941 "MESH:D012186" MONDO:0005941 "NCIT:C3537" MONDO:0005941 "SCTID:126872008" -MONDO:0005941 "ICD10:C48.0" MONDO:0005941 "ICD9:158.0" MONDO:0005941 "EFO:0007466" MONDO:0005941 "ICD9:158" @@ -59707,11 +58238,12 @@ MONDO:0008333 "OMIM:177850" MONDO:0008333 "Orphanet:758" MONDO:0008333 "GARD:0010104" MONDO:0009891 "OMIM:263300" -MONDO:0009891 "ICD10:D45" MONDO:0009891 "MedDRA:10036057" MONDO:0009891 "ONCOTREE:PV" MONDO:0009891 "EFO:0002429" MONDO:0009891 "MESH:D011087" +MONDO:0009891 "ICD10CM:D37-D48" +MONDO:0009891 "ICD10CM:D45" MONDO:0009891 "DOID:8997" MONDO:0009891 "ICD9:238.4" MONDO:0009891 "Orphanet:729" @@ -59724,9 +58256,7 @@ MONDO:0002752 "Orphanet:213504" MONDO:0002752 "DOID:3713" MONDO:0002752 "MedDRA:10051938" MONDO:0002752 "NCIT:C7700" -MONDO:0002752 "ICD10:C56" -MONDO:0024950 "UMLS:C0019940" -MONDO:0024950 "MESH:D006734" +MONDO:0002752 "ICD10CM:C56" MONDO:0007136 "OMIM:107100" MONDO:0007136 "Orphanet:557" MONDO:0007136 "MESH:C567938" @@ -59736,6 +58266,8 @@ MONDO:0013383 "MESH:C538121" MONDO:0013383 "OMIM:613711" MONDO:0013383 "Orphanet:388" MONDO:0013383 "GARD:0002699" +MONDO:0024950 "UMLS:C0019940" +MONDO:0024950 "MESH:D006734" HP:0100886 "UMLS:C4021946" MONDO:0100025 "SCTID:733195008" MONDO:0100025 "UMLS:C4518639" @@ -59747,13 +58279,13 @@ MONDO:0045071 "UMLS:C1513782" MONDO:0001835 "UMLS:C0015469" MONDO:0001835 "NCIT:C26769" MONDO:0001835 "MESH:D005158" -MONDO:0001835 "ICD10:G51.0" MONDO:0001835 "DOID:13934" MONDO:0001835 "SCTID:280816001" +MONDO:0001835 "ICD10CM:G51.0" MONDO:0030508 "OMIM:619673" MONDO:0019430 "Orphanet:85338" MONDO:0019430 "UMLS:CN227633" -MONDO:0019430 "ICD10:G31.8" +MONDO:0019430 "ICD10CM:G31.8" MONDO:0033850 "Orphanet:521411" MONDO:0016440 "UMLS:CN226932" MONDO:0016440 "NCIT:C4245" @@ -59784,7 +58316,6 @@ HP:0011675 "SNOMEDCT_US:44808001" HP:0011675 "UMLS:C1832603" MONDO:0019886 "SCTID:764454003" MONDO:0019886 "Orphanet:96105" -MONDO:0019886 "ICD10:Q92.3" MONDO:0006710 "UMLS:C0085417" MONDO:0006710 "DOID:12382" MONDO:0006710 "MESH:D017029" @@ -59793,7 +58324,6 @@ MONDO:0006710 "SCTID:407675009" MONDO:0006710 "EFO:1000877" MONDO:0018905 "EFO:0000403" MONDO:0018905 "DOID:0050745" -MONDO:0018905 "ICD10:C83.3" MONDO:0018905 "Orphanet:544" MONDO:0018905 "MedDRA:10012818" MONDO:0018905 "MESH:D016403" @@ -59802,39 +58332,37 @@ MONDO:0018905 "ICDO:9680/3" MONDO:0018905 "ICD9:200.7" MONDO:0018905 "UMLS:C0079744" MONDO:0018905 "GARD:0003178" +MONDO:0019066 "ICD10CM:Q73.8" MONDO:0019066 "UMLS:CN205546" MONDO:0019066 "Orphanet:69028" -MONDO:0019066 "ICD10:Q73.8" MONDO:0014832 "Orphanet:488635" MONDO:0014832 "OMIM:616917" MONDO:0014832 "UMLS:C4310794" MONDO:0015303 "Orphanet:137814" -MONDO:0015303 "ICD10:L99.0*" +MONDO:0015303 "ICD10EXP:L99.0*" +MONDO:0015303 "ICD10EXP:E85.4+" MONDO:0015303 "UMLS:C0544839" -MONDO:0015303 "ICD10:E85.4+" MONDO:0018259 "Orphanet:370046" +MONDO:0018259 "ICD10CM:Q84.8" MONDO:0018259 "UMLS:CN204834" -MONDO:0018259 "ICD10:Q84.8" +MONDO:0017503 "ICD10CM:Q71.3" MONDO:0017503 "Orphanet:295103" -MONDO:0017503 "ICD10:Q71.3" MONDO:0017503 "SCTID:371189003" -MONDO:0001281 "ICD10:H50.15" MONDO:0001281 "DOID:1142" MONDO:0001281 "UMLS:C0152207" MONDO:0001281 "ICD9:378.15" MONDO:0001281 "SCTID:37214009" MONDO:0001281 "MESH:D005099" +MONDO:0001281 "ICD10CM:H50.15" MONDO:0016744 "UMLS:CN201991" MONDO:0016744 "Orphanet:252028" FOODON:00001172 "SUBSET_SIREN:F16972" -MONDO:0004635 "ICD10:C13.0" MONDO:0004635 "ICD9:148.0" MONDO:0004635 "DOID:8660" MONDO:0004635 "UMLS:C0496769" MONDO:0004635 "SCTID:363400004" MONDO:0004635 "NCIT:C9323" HP:0010987 "UMLS:C4023612" -MONDO:0004811 "ICD10:H10.42" MONDO:0004811 "SCTID:8211008" MONDO:0004811 "ICD9:372.11" MONDO:0004811 "DOID:9512" @@ -59844,7 +58372,6 @@ MONDO:0014377 "UMLS:C4014531" MONDO:0014377 "OMIM:615871" MONDO:0003785 "EFO:0004233" MONDO:0003785 "UMLS:C0023530" -MONDO:0003785 "ICD10:D72.819" MONDO:0003785 "MESH:D007970" MONDO:0003785 "ICD9:288.50" MONDO:0003785 "NCIT:C26816" @@ -59876,18 +58403,18 @@ MONDO:0004165 "DOID:7263" MONDO:0004165 "NCIT:C27144" MONDO:0004165 "SCTID:234541006" MONDO:0004165 "UMLS:C0398695" +MONDO:0015732 "ICD10CM:Q42.1" +MONDO:0015732 "ICD10CM:Q42.0" MONDO:0015732 "SCTID:734024009" -MONDO:0015732 "ICD10:Q42.1" MONDO:0015732 "Orphanet:171208" -MONDO:0015732 "ICD10:Q42.0" MONDO:0018992 "MedDRA:10039142" MONDO:0018992 "NCIT:C35827" MONDO:0018992 "Orphanet:64744" MONDO:0018992 "SCTID:89024000" -MONDO:0018992 "ICD10:E06.5" MONDO:0018992 "UMLS:C1335787" MONDO:0018992 "DOID:14351" -MONDO:0008756 "ICD10:Q87.8" +MONDO:0018992 "ICD10CM:E06.5" +MONDO:0008756 "ICD10CM:Q87.8" MONDO:0008756 "DOID:0080627" MONDO:0008756 "OMIM:610422" MONDO:0008756 "UMLS:C1859878" @@ -59909,32 +58436,31 @@ MONDO:0007559 "UMLS:C1868677" MONDO:0007559 "OMIM:132100" MONDO:0007559 "Orphanet:166409" MONDO:0022771 "GARD:0001366" -MONDO:0002602 "ICD10:G96.9" MONDO:0002602 "NCIT:C2934" MONDO:0002602 "SCTID:23853001" MONDO:0002602 "DOID:331" MONDO:0002602 "UMLS:C0007682" MONDO:0002602 "MESH:D002493" +MONDO:0011706 "ICD10CM:G23.0" MONDO:0011706 "Orphanet:306674" -MONDO:0011706 "ICD10:G23.0" MONDO:0011706 "GARD:0009174" MONDO:0011706 "DOID:0060556" MONDO:0011706 "OMIM:606693" MONDO:0011706 "Orphanet:314632" MONDO:0011706 "MESH:C537177" +MONDO:0010936 "OMIM:600795" +MONDO:0010936 "DOID:0111227" MONDO:0010936 "MESH:C579991" -MONDO:0010936 "DOID:0060208" +MONDO:0010936 "OMIM:614696" MONDO:0010936 "UMLS:C1833296" -MONDO:0010936 "ICD9:331.19" MONDO:0010936 "MESH:C563708" -MONDO:0010936 "OMIM:600795" -MONDO:0010936 "OMIM:614696" MONDO:0010936 "SCTID:702393003" -MONDO:0010936 "Orphanet:275864" +MONDO:0010936 "DOID:0060208" MONDO:0010936 "Orphanet:803" +MONDO:0010936 "ICD9:331.19" MONDO:0010936 "Orphanet:282" MONDO:0010936 "UMLS:C1836076" -MONDO:0010936 "DOID:0111227" +MONDO:0010936 "Orphanet:275864" HP:0002637 "UMLS:C0917798" HP:0002637 "MSH:D002545" HP:0002637 "SNOMEDCT_US:389100007" @@ -59942,8 +58468,8 @@ HP:0002637 "SNOMEDCT_US:287731003" HP:0002637 "UMLS:C0007786" MONDO:0015390 "UMLS:C4274985" MONDO:0015390 "SCTID:715828006" +MONDO:0015390 "ICD10CM:Q30.8" MONDO:0015390 "Orphanet:141099" -MONDO:0015390 "ICD10:Q30.8" MONDO:0032736 "OMIM:618416" MONDO:0006680 "MedDRA:10062788" MONDO:0006680 "GARD:0008452" @@ -59952,13 +58478,13 @@ MONDO:0006680 "MESH:D018329" MONDO:0006680 "ICDO:8780/0" MONDO:0006680 "EFO:1000841" MONDO:0006680 "NCIT:C3803" +MONDO:0008943 "ICD10CM:G11.0" MONDO:0008943 "Orphanet:1170" MONDO:0008943 "OMIM:213200" MONDO:0008943 "MESH:C565865" MONDO:0008943 "UMLS:C1859298" MONDO:0008943 "GARD:0001199" MONDO:0008943 "SCTID:715369006" -MONDO:0008943 "ICD10:G11.0" MONDO:0008943 "DOID:0080061" MONDO:0014435 "OMIM:615984" MONDO:0014435 "DOID:0110129" @@ -59966,7 +58492,6 @@ MONDO:0014435 "MESH:C565916" MONDO:0014435 "OMIM:209900" MONDO:0014435 "GARD:0010206" MONDO:0014435 "UMLS:C1859565" -MONDO:0014435 "ICD10:Q87.89" MONDO:0014435 "EFO:0009026" MONDO:0014611 "UMLS:C4225348" MONDO:0014611 "DOID:0080136" @@ -59977,14 +58502,14 @@ MONDO:0001155 "UMLS:C0156047" MONDO:0001155 "UMLS:C0156050" MONDO:0001155 "UMLS:C0156048" MONDO:0001155 "UMLS:C0156042" +MONDO:0001155 "ICD10CM:K28.0" MONDO:0001155 "ICD9:534.0" MONDO:0001155 "UMLS:C0156044" MONDO:0001155 "UMLS:C0156045" MONDO:0001155 "SCTID:4269005" -MONDO:0001155 "ICD10:K28.0" MONDO:0001155 "DOID:10927" MONDO:0007097 "MESH:C537459" -MONDO:0007097 "ICD10:E85.1" +MONDO:0007097 "ICD10CM:E85.1" MONDO:0007097 "SCTID:419398009" MONDO:0007097 "ICD9:277.39" MONDO:0007097 "GARD:0002339" @@ -60010,7 +58535,6 @@ MONDO:0019736 "Orphanet:93571" MONDO:0019736 "UMLS:C0268743" MONDO:0019736 "SCTID:722760002" MONDO:0019736 "NCIT:C123039" -MONDO:0019736 "ICD10:N04.6" MONDO:0019736 "GARD:0008555" MONDO:0019736 "OMIM:609814" MONDO:0003334 "SCTID:23414001" @@ -60027,7 +58551,6 @@ MONDO:0044067 "EFO:1001282" MONDO:0012653 "UMLS:C1969784" MONDO:0012653 "OMIM:611308" MONDO:0012653 "Orphanet:91495" -MONDO:0018907 "ICD10:D44.4" MONDO:0018907 "ICD9:237.0" MONDO:0018907 "ICDO:9350/1" MONDO:0018907 "EFO:1000209" @@ -60042,47 +58565,46 @@ MONDO:0018907 "NCIT:C2964" MONDO:0001038 "UMLS:C0151844" MONDO:0001038 "SCTID:46606001" MONDO:0001038 "DOID:10445" -MONDO:0001038 "ICD10:H16.07" MONDO:0001038 "ICD9:370.06" MONDO:0003670 "DOID:5843" MONDO:0003670 "NCIT:C36068" -MONDO:0009032 "UMLS:C0432235" -MONDO:0009032 "Orphanet:1515" -MONDO:0009032 "SCTID:254093009" +MONDO:0009032 "OMIMPS:218330" +MONDO:0009032 "OMIM:218330" +MONDO:0009032 "UMLS:CN016627" MONDO:0009032 "NCIT:C129305" +MONDO:0009032 "ICD10CM:Q87.5" +MONDO:0009032 "SCTID:254093009" MONDO:0009032 "OMIM:614099" MONDO:0009032 "ICD9:756.9" -MONDO:0009032 "DOID:0050577" -MONDO:0009032 "OMIM:218330" -MONDO:0009032 "ICD10:Q87.5" +MONDO:0009032 "OMIM:613610" +MONDO:0009032 "OMIM:617102" MONDO:0009032 "GARD:0000359" MONDO:0009032 "UMLS:CN119432" -MONDO:0009032 "OMIMPS:218330" -MONDO:0009032 "OMIM:613610" +MONDO:0009032 "Orphanet:1515" +MONDO:0009032 "DOID:0050577" MONDO:0009032 "OMIM:614378" -MONDO:0009032 "UMLS:CN016627" -MONDO:0009032 "OMIM:617102" -MONDO:0018109 "ICD10:K72" -MONDO:0018109 "Orphanet:35063" +MONDO:0009032 "UMLS:C0432235" MONDO:0004414 "DOID:7962" MONDO:0004414 "UMLS:C1515212" MONDO:0004414 "NCIT:C40159" +MONDO:0018109 "Orphanet:35063" +MONDO:0018109 "ICD10CM:K72" MONDO:0005972 "ICD9:482.39" MONDO:0005972 "EFO:0007499" -MONDO:0005972 "ICD10:J13" MONDO:0005972 "ICD9:482.30" MONDO:0005972 "SCTID:233607000" MONDO:0005972 "UMLS:C0155862" MONDO:0005972 "ICD9:481" MONDO:0005972 "MESH:D011018" +MONDO:0005972 "ICD10CM:J13" MONDO:0005972 "DOID:0040084" MONDO:0012582 "Orphanet:217563" MONDO:0012582 "MESH:C567046" MONDO:0012582 "UMLS:C1970456" MONDO:0012582 "OMIM:610921" +MONDO:0012582 "ICD10CM:J84.8" MONDO:0012582 "Orphanet:440402" MONDO:0012582 "Orphanet:264675" -MONDO:0012582 "ICD10:J84.8" MONDO:0016949 "Orphanet:262794" MONDO:0016949 "UMLS:C0795861" MONDO:0016949 "GARD:0005315" @@ -60114,7 +58636,7 @@ MONDO:0015511 "UMLS:CN199644" MONDO:0015511 "Orphanet:156619" MONDO:0018424 "GARD:0012679" MONDO:0018424 "Orphanet:401854" -MONDO:0018424 "ICD10:E88.8" +MONDO:0018424 "ICD10CM:E88.8" MONDO:0008535 "GTR:AN0097757" MONDO:0008535 "Orphanet:774" MONDO:0008535 "UMLS:C0039445" @@ -60124,7 +58646,7 @@ MONDO:0008535 "GTR:AN0195329" MONDO:0008535 "GTR:AN0097750" MONDO:0008535 "OMIM:187300" MONDO:0012198 "DOID:0090111" -MONDO:0012198 "ICD10:E75.2" +MONDO:0012198 "ICD10CM:E75.2" MONDO:0012198 "Orphanet:163746" MONDO:0012198 "OMIM:609136" MONDO:0012198 "MESH:C563789" @@ -60133,7 +58655,7 @@ MONDO:0012198 "UMLS:C1836727" MONDO:0011570 "DOID:0110179" MONDO:0011570 "SCTID:719981005" MONDO:0011570 "Orphanet:101101" -MONDO:0011570 "ICD10:G60.0" +MONDO:0011570 "ICD10CM:G60.0" MONDO:0011570 "UMLS:C1854150" MONDO:0011570 "MESH:C537991" MONDO:0011570 "OMIM:605589" @@ -60155,14 +58677,14 @@ MONDO:0001435 "DOID:12108" MONDO:0007338 "DOID:0110214" MONDO:0007338 "Orphanet:99772" MONDO:0007338 "OMIM:119570" -MONDO:0007338 "ICD10:Q35.3" MONDO:0007338 "MESH:C562950" MONDO:0007338 "SCTID:253997002" +MONDO:0007338 "ICD10CM:Q35.3" MONDO:0001827 "SCTID:35586003" MONDO:0001827 "UMLS:C0031898" MONDO:0001827 "UMLS:C0040249" +MONDO:0001827 "ICD10CM:B36.2" MONDO:0001827 "ICD9:111.2" -MONDO:0001827 "ICD10:B36.2" MONDO:0001827 "SCTID:402135006" MONDO:0001827 "DOID:13902" MONDO:0001827 "MESH:D010854" @@ -60180,12 +58702,11 @@ MONDO:0003083 "NCIT:C4296" MONDO:0015967 "Orphanet:183625" MONDO:0018392 "Orphanet:399786" MONDO:0018392 "GARD:0012513" +MONDO:0018392 "ICD10CM:N46" MONDO:0018392 "UMLS:CN227340" -MONDO:0018392 "ICD10:N46" MONDO:0019456 "Orphanet:86845" MONDO:0019456 "ICDO:9895/3" MONDO:0019456 "SCTID:445448008" -MONDO:0019456 "ICD10:C92.8" MONDO:0019456 "NCIT:C9289" MONDO:0019456 "UMLS:C1292773" MONDO:0019456 "GARD:0012761" @@ -60212,26 +58733,23 @@ MONDO:0014955 "OMIM:617175" MONDO:0019339 "SCTID:50749006" MONDO:0019339 "NCIT:C85237" MONDO:0019339 "GARD:0005674" -MONDO:0019339 "ICD10:Q98.5" MONDO:0019339 "Orphanet:8" MONDO:0019339 "MESH:C535317" MONDO:0019339 "MedDRA:10056894" MONDO:0014331 "OMIM:615750" MONDO:0014331 "Orphanet:401945" -MONDO:0014331 "ICD10:I67.5" MONDO:0014331 "SCTID:718551002" +MONDO:0014331 "ICD10CM:I67.5" MONDO:0014331 "UMLS:C3810403" NCBITaxon:91061 "GC_ID:11" -MONDO:0002050 "ICD10:F32" MONDO:0002050 "DOID:1596" MONDO:0002050 "ICD9:311" MONDO:0002050 "NCIT:C2982" -MONDO:0002050 "ICD10:F33.9" -MONDO:0002050 "ICD10:F32.9" MONDO:0002050 "SCTID:35489007" MONDO:0002050 "UMLS:CN236658" MONDO:0002050 "MESH:D003866" MONDO:0002050 "MFOMD:0000013" +MONDO:0002050 "ICD10CM:F32" CL:0000060 "FMA:62999" CL:0000060 "BTO:0001769" CL:0000060 "CALOHA:TS-0696" @@ -60249,8 +58767,8 @@ MONDO:0007767 "OMIM:145000" MONDO:0007767 "Orphanet:99879" MONDO:0007767 "UMLS:C1840402" MONDO:0019925 "SCTID:766720000" +MONDO:0019925 "ICD10CM:Q99.8" MONDO:0019925 "Orphanet:96195" -MONDO:0019925 "ICD10:Q99.8" HP:0010651 "UMLS:C4023758" NCBITaxon:7157 "GC_ID:1" MONDO:0002028 "SCTID:33449004" @@ -60258,6 +58776,8 @@ MONDO:0002028 "ICD9:301.9" MONDO:0002028 "HP:0012075" MONDO:0002028 "ICD9:301.8" MONDO:0002028 "NCIT:C34922" +MONDO:0002028 "ICD10CM:F60-F69" +MONDO:0002028 "ICD10CM:F20-F29" MONDO:0002028 "DOID:1510" MONDO:0002028 "ICD9:301.89" MONDO:0018728 "Orphanet:459526" @@ -60269,17 +58789,12 @@ MONDO:0006619 "UMLS:C0153062" MONDO:0006619 "DOID:8672" MONDO:0006619 "ICD9:057.8" MONDO:0021003 "OMIM:174200" -MONDO:0021003 "ICD10:Q69.1" MONDO:0021003 "OMIM:174700" MONDO:0021003 "MedDRA:10036063" -MONDO:0021003 "ICD10:Q69" MONDO:0021003 "ICD9:755.00" -MONDO:0021003 "ICD10:Q69.0" MONDO:0021003 "OMIM:603596" -MONDO:0021003 "ICD10:Q69.9" MONDO:0021003 "NCIT:C87110" MONDO:0021003 "OMIM:174500" -MONDO:0021003 "ICD10:Q69.2" MONDO:0021003 "HP:0010442" MONDO:0021003 "ICD9:755.0" MONDO:0021003 "SCTID:367506006" @@ -60291,14 +58806,11 @@ MONDO:0005404 "UMLS:C0015674" MONDO:0005404 "ICD9:780.71" MONDO:0005404 "ICD9:780.79" MONDO:0005404 "MESH:D015673" -MONDO:0005404 "ICD10:G93.3" MONDO:0005404 "DOID:8544" MONDO:0005404 "NCIT:C3037" MONDO:0005404 "EFO:0004540" -MONDO:0005404 "ICD10:R53.82" MONDO:0005404 "Orphanet:1983" MONDO:0014214 "UMLS:C3809691" -MONDO:0014214 "ICD10:Q77.2" MONDO:0014214 "OMIM:615503" MONDO:0014214 "DOID:0110094" MONDO:0014214 "Orphanet:93271" @@ -60309,31 +58821,30 @@ HP:0000927 "UMLS:C4025818" MONDO:0013834 "Orphanet:178338" MONDO:0013834 "UMLS:C3553328" MONDO:0013834 "OMIM:614640" -MONDO:0032852 "OMIM:618654" MONDO:0006149 "NCIT:C65203" MONDO:0006149 "EFO:1000181" MONDO:0006149 "ICDO:8443/0" MONDO:0006149 "UMLS:C1880102" MONDO:0001320 "ICD9:379.15" MONDO:0001320 "DOID:11594" -MONDO:0001320 "ICD10:H15.85" MONDO:0001320 "UMLS:C0155363" MONDO:0001320 "SCTID:5299007" MONDO:0017716 "UMLS:CN227184" -MONDO:0017716 "ICD10:E71.3" MONDO:0017716 "Orphanet:309130" +MONDO:0017716 "ICD10CM:E71.3" +MONDO:0032852 "OMIM:618654" MONDO:0004837 "UMLS:C1333463" MONDO:0004837 "NCIT:C5704" MONDO:0004837 "DOID:961" MONDO:0006806 "MedDRA:10022557" MONDO:0006806 "EFO:1000986" -MONDO:0006806 "ICD10:H30.2" MONDO:0006806 "MESH:D015867" MONDO:0006806 "NCIT:C35110" MONDO:0006806 "SCTID:314429009" MONDO:0006806 "UMLS:C0042166" MONDO:0006806 "HP:0012124" MONDO:0006806 "DOID:12732" +MONDO:0006806 "ICD10CM:H30.2" MONDO:0006806 "Orphanet:279914" MONDO:0015819 "Orphanet:178557" MONDO:0013188 "UMLS:C2750509" @@ -60348,8 +58859,8 @@ MONDO:0012432 "MESH:C537688" MONDO:0012432 "Orphanet:2318" MONDO:0011876 "GARD:0002162" MONDO:0011876 "OMIM:607631" -MONDO:0011876 "ICD10:G40.3" MONDO:0011876 "Orphanet:1941" +MONDO:0011876 "ICD10CM:G40.3" MONDO:0011876 "UMLS:C4317339" MONDO:0011876 "SCTID:230413002" MONDO:0011876 "NCIT:C129868" @@ -60363,22 +58874,22 @@ MONDO:0044232 "OMIM:136100" MONDO:0002761 "NCIT:C40190" MONDO:0002761 "UMLS:C1516435" MONDO:0002761 "DOID:3743" +MONDO:0008294 "DOID:3890" MONDO:0008294 "UMLS:C0162565" -MONDO:0008294 "OMIM:176000" +MONDO:0008294 "MESH:D017118" +MONDO:0008294 "ICD10CM:E80.2" MONDO:0008294 "SCTID:234422006" -MONDO:0008294 "GARD:0005732" -MONDO:0008294 "ICD10:E80.2" +MONDO:0008294 "OMIM:176000" MONDO:0008294 "NCIT:C84536" -MONDO:0008294 "MESH:D017118" MONDO:0008294 "Orphanet:79276" -MONDO:0008294 "DOID:3890" +MONDO:0008294 "GARD:0005732" CL:0000164 "FMA:62930" CL:0000164 "BTO:0003865" MONDO:0003998 "NCIT:C40257" MONDO:0003998 "DOID:6809" MONDO:0003998 "UMLS:C1519932" MONDO:0100017 "MESH:D010916" -MONDO:0100017 "ICD10:L44.0" +MONDO:0100017 "ICD10CM:L44.0" MONDO:0100017 "GARD:0007401" MONDO:0100017 "SCTID:3755001" MONDO:0100017 "UMLS:C0032027" @@ -60398,10 +58909,11 @@ MONDO:0009696 "EFO:0006572" MONDO:0009696 "MESH:D020190" MONDO:0009696 "GARD:0006808" MONDO:0009696 "OMIM:613060" -MONDO:0009696 "ICD10:G40.3" +MONDO:0009696 "ICD10CM:G40.3" MONDO:0009696 "OMIM:254770" MONDO:0009696 "MedDRA:10071082" MONDO:0009696 "OMIM:608816" +MONDO:0009696 "OMIM:606904" MONDO:0009696 "Orphanet:307" MONDO:0009696 "OMIM:604827" MONDO:0009696 "OMIM:614280" @@ -60416,19 +58928,18 @@ MONDO:0009696 "OMIM:607682" MONDO:0009696 "OMIM:611136" MONDO:0009696 "NCIT:C84796" MONDO:0500000 "GARD:0013029" -MONDO:0018203 "ICD10:E34.8" MONDO:0018203 "Orphanet:363618" +MONDO:0018203 "ICD10CM:E34.8" MONDO:0018203 "UMLS:CN204714" MONDO:0022810 "GARD:0001449" HP:0000140 "UMLS:C3549779" HP:0000140 "UMLS:C4025888" -MONDO:0014637 "ICD10:D81.8" +MONDO:0014637 "ICD10CM:D81.8" MONDO:0014637 "GARD:0012653" MONDO:0014637 "UMLS:C4225328" MONDO:0014637 "OMIM:616433" MONDO:0014637 "Orphanet:447737" MONDO:0040654 "SCTID:79417003" -MONDO:0010661 "ICD10:F72.9" MONDO:0010661 "MESH:C536759" MONDO:0010661 "UMLS:C0795965" MONDO:0010661 "Orphanet:3078" @@ -60446,15 +58957,15 @@ MONDO:0007956 "SCTID:722201004" MONDO:0007956 "GARD:0003439" MONDO:0007956 "OMIM:155145" MONDO:0007956 "UMLS:C1835087" -MONDO:0007956 "ICD10:Q87.8" +MONDO:0007956 "ICD10CM:Q87.8" MONDO:0009579 "UMLS:C1855305" MONDO:0009579 "SCTID:720958002" MONDO:0009579 "MESH:C537274" MONDO:0009579 "Orphanet:137834" MONDO:0009579 "GARD:0005138" MONDO:0009579 "OMIM:249420" +MONDO:0009579 "ICD10CM:Q87.8" MONDO:0009579 "DOID:0111789" -MONDO:0009579 "ICD10:Q87.8" MONDO:0000990 "DOID:10266" MONDO:0000990 "SCTID:70422006" MONDO:0000990 "UMLS:C0264710" @@ -60471,18 +58982,18 @@ MONDO:0012152 "OMIM:608906" MONDO:0019621 "UMLS:CN206472" MONDO:0019621 "Orphanet:91359" MONDO:0019621 "SCTID:708026002" +MONDO:0019621 "ICD10CM:J84.0" MONDO:0019621 "UMLS:C3872848" -MONDO:0019621 "ICD10:J84.0" HP:0007375 "UMLS:C4024894" MONDO:0019058 "UMLS:CN205539" MONDO:0019058 "Orphanet:68385" HP:0001581 "UMLS:C1853193" MONDO:0002409 "DOID:2742" -MONDO:0002409 "ICD10:H93.90" MONDO:0002409 "ICD9:388.9" +MONDO:0002409 "ICD10CM:H60-H95" MONDO:0002409 "EFO:1001455" MONDO:0002409 "SCTID:362966006" -MONDO:0002409 "ICD10:H93.9" +MONDO:0002409 "ICD10CM:H90-H94" MONDO:0014824 "OMIM:616901" MONDO:0014824 "UMLS:C4310801" MONDO:0014824 "Orphanet:459061" @@ -60490,7 +59001,7 @@ MONDO:0022407 "Orphanet:156183" NCBITaxon:32524 "GC_ID:1" MONDO:0021238 "NCIT:C4361" MONDO:0021238 "UMLS:C0339304" -MONDO:0016549 "ICD10:Q62.2" +MONDO:0016549 "ICD10CM:Q62.2" MONDO:0016549 "Orphanet:238642" MONDO:0016549 "UMLS:CN201632" MONDO:0004280 "DOID:7559" @@ -60498,29 +59009,29 @@ MONDO:0004280 "NCIT:C27953" MONDO:0004280 "UMLS:C1332341" MONDO:0007839 "SCTID:718576001" MONDO:0007839 "UMLS:C0220686" -MONDO:0007839 "ICD10:Q87.8" MONDO:0007839 "MESH:C535332" MONDO:0007839 "Orphanet:916" MONDO:0007839 "MedDRA:10063429" +MONDO:0007839 "ICD10CM:Q87.8" MONDO:0007839 "GARD:0005642" MONDO:0007839 "OMIM:147800" MONDO:0017686 "Orphanet:308448" MONDO:0016432 "UMLS:CN201390" -MONDO:0016432 "ICD10:Q87.2" +MONDO:0016432 "ICD10CM:Q87.2" MONDO:0016432 "UMLS:C0265264" MONDO:0016432 "Orphanet:228184" MONDO:0011393 "MESH:D052456" MONDO:0011393 "OMIM:604091" MONDO:0011393 "GARD:0002872" +MONDO:0012035 "ICD10CM:Q87.0" MONDO:0012035 "UMLS:C1842058" MONDO:0012035 "MESH:C564241" -MONDO:0012035 "ICD10:Q87.0" MONDO:0012035 "SCTID:720816004" MONDO:0012035 "OMIM:608432" MONDO:0012035 "Orphanet:52054" +MONDO:0018197 "ICD10CM:E88.8" MONDO:0018197 "UMLS:CN204706" MONDO:0018197 "Orphanet:363534" -MONDO:0018197 "ICD10:E88.8" MONDO:0016809 "UMLS:C1843851" MONDO:0016809 "UMLS:C1843852" MONDO:0016809 "OMIM:607459" @@ -60528,9 +59039,7 @@ MONDO:0016809 "UMLS:CN202060" MONDO:0016809 "Orphanet:254881" MONDO:0013593 "DOID:0110585" MONDO:0013593 "UMLS:C3279948" -MONDO:0013593 "ICD10:H90.3" MONDO:0013593 "OMIM:614152" -MONDO:0013422 "ICD10:D84.1" MONDO:0013422 "HGNC:1352" MONDO:0013422 "DOID:0060301" MONDO:0013422 "GARD:0010626" @@ -60540,8 +59049,8 @@ MONDO:0013422 "Orphanet:169150" HP:0001197 "UMLS:C4025797" MONDO:0600002 "NCIT:C36169" MONDO:0030873 "OMIM:619123" +MONDO:0015537 "ICD10CM:D76.3" MONDO:0015537 "Orphanet:158011" -MONDO:0015537 "ICD10:D76.3" MONDO:0015537 "UMLS:C1275339" MONDO:0015537 "SCTID:404164003" MONDO:0015537 "GARD:0010951" @@ -60554,8 +59063,8 @@ MONDO:0004627 "ICD9:535.6" MONDO:0004627 "NCIT:C94409" MONDO:0004627 "MESH:D004382" MONDO:0004627 "DOID:8643" +MONDO:0004627 "ICD10CM:K29.8" MONDO:0004627 "SCTID:72007001" -MONDO:0004627 "ICD10:K29.8" MONDO:0002540 "DOID:3183" MONDO:0002540 "MESH:D009837" MONDO:0002540 "UMLS:C0280475" @@ -60567,8 +59076,8 @@ MONDO:0006808 "UMLS:C0752138" MONDO:0006808 "MESH:D020765" MONDO:0019791 "EFO:0008816" MONDO:0019791 "Orphanet:94125" -MONDO:0019791 "ICD10:G11.8" MONDO:0019791 "UMLS:CN206743" +MONDO:0019791 "ICD10CM:G11.8" PO:0009085 "PO_GIT:511" PO:0009085 "PO_GIT:149" MONDO:0023283 "SCTID:254863004" @@ -60580,16 +59089,16 @@ MONDO:0021667 "MESH:D009437" MONDO:0021667 "ICD9:729.2" MONDO:0021667 "SCTID:16269008" MONDO:0018594 "UMLS:CN237624" -MONDO:0018594 "ICD10:M30.8" MONDO:0018594 "Orphanet:439746" +MONDO:0018594 "ICD10CM:M30.8" MONDO:0011878 "DOID:0080037" MONDO:0011878 "SCTID:254131007" MONDO:0011878 "GARD:0009488" MONDO:0011878 "Orphanet:3416" MONDO:0011878 "OMIM:607636" MONDO:0016978 "SCTID:717921000" +MONDO:0016978 "ICD10CM:C37" MONDO:0016978 "Orphanet:263339" -MONDO:0016978 "ICD10:C37" MONDO:0016978 "UMLS:CN202280" MONDO:0009128 "Orphanet:2650" MONDO:0009128 "UMLS:C0796076" @@ -60598,8 +59107,8 @@ MONDO:0009128 "MESH:C535809" MONDO:0007041 "GARD:0005833" MONDO:0007041 "Orphanet:87" MONDO:0007041 "MESH:D000168" +MONDO:0007041 "ICD10CM:Q87.0" MONDO:0007041 "MedDRA:10002943" -MONDO:0007041 "ICD10:Q87.0" MONDO:0007041 "SCTID:205258009" MONDO:0007041 "OMIM:101200" MONDO:0007041 "NCIT:C99099" @@ -60617,7 +59126,7 @@ MONDO:0011655 "HP:0012218" MONDO:0011655 "NCIT:C7943" MONDO:0011655 "UMLS:C0206657" MONDO:0011655 "SCTID:404056007" -MONDO:0011655 "ICD10:C49.9" +MONDO:0011655 "ICD10CM:C49.9" MONDO:0011655 "DOID:4239" MONDO:0011655 "ONCOTREE:ASPS" MONDO:0011655 "ICD9:171.9" @@ -60655,16 +59164,15 @@ MONDO:0001984 "UMLS:C1282977" MONDO:0001984 "ICD9:112.3" MONDO:0001984 "DOID:14512" MONDO:0001984 "SCTID:187014000" -MONDO:0001984 "ICD10:B37.2" MONDO:0001984 "UMLS:C0006842" -MONDO:0016024 "ICD10:Q87.8" +MONDO:0016024 "ICD10CM:Q87.8" MONDO:0016024 "Orphanet:1940" HP:0009827 "MEDDRA:10001926" HP:0009827 "MSH:D004480" HP:0009827 "SNOMEDCT_US:62588002" HP:0009827 "UMLS:C0002447" MONDO:0017582 "SCTID:254955001" -MONDO:0017582 "ICD10:C75.1" +MONDO:0017582 "ICD10CM:C75.1" MONDO:0017582 "UMLS:C0346300" MONDO:0017582 "HP:0011763" MONDO:0017582 "NCIT:C4536" @@ -60683,9 +59191,9 @@ MONDO:0006672 "DOID:13033" MONDO:0006672 "MESH:D001446" MONDO:0006672 "UMLS:C0004690" MONDO:0006672 "EFO:1000833" -MONDO:0006672 "ICD10:N48.1" MONDO:0006672 "NCIT:C26705" MONDO:0006672 "MedDRA:10004073" +MONDO:0006672 "ICD10CM:N48.1" MONDO:0006672 "SCTID:44882003" MONDO:0032696 "OMIM:618353" MONDO:0022812 "GARD:0009527" @@ -60694,14 +59202,14 @@ MONDO:0022812 "ICD9:279.8" MONDO:0022812 "SCTID:234628004" MONDO:0022399 "Orphanet:156171" MONDO:0010076 "MESH:C562958" -MONDO:0010076 "ICD10:Q77.7" +MONDO:0010076 "ICD10CM:Q77.7" MONDO:0010076 "Orphanet:93351" MONDO:0010076 "OMIM:271650" MONDO:0010076 "UMLS:C0432213" MONDO:0010076 "SCTID:717330004" MONDO:0011022 "MESH:C538356" MONDO:0011022 "GARD:0009762" -MONDO:0011022 "ICD10:Q93.5" +MONDO:0011022 "ICD10CM:Q93.5" MONDO:0011022 "DOID:0111687" MONDO:0011022 "ICD9:758.39" MONDO:0011022 "NCIT:C75456" @@ -60719,24 +59227,24 @@ MONDO:0003343 "DOID:5240" MONDO:0044037 "MESH:D054068" MONDO:0044037 "UMLS:C0085642" MONDO:0044037 "SCTID:238772004" -MONDO:0017465 "ICD10:Q74.0" +MONDO:0017465 "ICD10CM:Q74.0" MONDO:0017465 "Orphanet:295024" +MONDO:0008787 "ICD10CM:D50.8" MONDO:0008787 "OMIM:206100" MONDO:0008787 "GARD:0012360" MONDO:0008787 "SCTID:711161006" MONDO:0008787 "Orphanet:83642" -MONDO:0008787 "ICD10:D50.8" MONDO:0009861 "GARD:0007383" +MONDO:0009861 "ICD10CM:E70.1" MONDO:0009861 "Orphanet:2209" -MONDO:0009861 "ICD10:E70.1" MONDO:0009861 "OMIM:261600" MONDO:0009861 "DOID:9281" MONDO:0009861 "SCTID:7573000" MONDO:0009861 "MedDRA:10034872" MONDO:0009861 "NCIT:C81315" +MONDO:0009861 "ICD10CM:E70.0" MONDO:0009861 "Orphanet:716" MONDO:0009861 "MESH:D010661" -MONDO:0009861 "ICD10:E70.0" MONDO:0009861 "UMLS:C0031485" MONDO:0009861 "ICD9:270.1" MONDO:0014416 "DOID:0111624" @@ -60747,15 +59255,14 @@ MONDO:0013025 "SCTID:719663005" MONDO:0013025 "NCIT:C36470" MONDO:0013025 "Orphanet:251056" MONDO:0013025 "UMLS:C3150215" -MONDO:0013025 "ICD10:Q93.5" MONDO:0013025 "UMLS:C4304527" +MONDO:0013025 "ICD10CM:Q93.5" MONDO:0013025 "OMIM:612863" MONDO:0013025 "GARD:0003764" MONDO:0013025 "DOID:0060424" MONDO:0017875 "DOID:0050195" MONDO:0017875 "MedDRA:10005932" MONDO:0017875 "SCTID:67247008" -MONDO:0017875 "ICD10:A96.1" MONDO:0017875 "Orphanet:319229" MONDO:0017875 "UMLS:C0282192" MONDO:0018821 "Orphanet:480880" @@ -60770,8 +59277,8 @@ MONDO:0014826 "UMLS:C4225160" MONDO:0003530 "ONCOTREE:ADPA" MONDO:0003530 "DOID:5590" MONDO:0030517 "OMIM:619691" -MONDO:0011243 "ICD10:Q87.8" MONDO:0011243 "OMIM:602531" +MONDO:0011243 "ICD10CM:Q87.8" MONDO:0011243 "SCTID:717824007" MONDO:0011243 "MESH:C566529" MONDO:0011243 "UMLS:C1865267" @@ -60779,23 +59286,23 @@ MONDO:0011243 "Orphanet:79094" MONDO:0030907 "DOID:0080240" MONDO:0030907 "OMIM:300997" MONDO:0018047 "MESH:C536900" -MONDO:0018047 "ICD10:D68.8" MONDO:0018047 "GARD:0005195" MONDO:0018047 "HGNC:11784" MONDO:0018047 "UMLS:C2931365" +MONDO:0018047 "ICD10CM:D68.8" MONDO:0018047 "Orphanet:3324" MONDO:0044258 "OMIM:250650" MONDO:0019223 "Orphanet:79174" -MONDO:0019223 "ICD10:E71.3" +MONDO:0019223 "ICD10CM:E71.3" MONDO:0019223 "UMLS:CN227590" MONDO:0004219 "NCIT:C39930" MONDO:0004219 "UMLS:C1515311" MONDO:0004219 "DOID:7435" MONDO:0005777 "EFO:0007291" MONDO:0005777 "ICD9:099.2" -MONDO:0005777 "ICD10:A58" MONDO:0005777 "GARD:0009532" MONDO:0005777 "SCTID:28867007" +MONDO:0005777 "ICD10CM:A58" MONDO:0005777 "UMLS:C0018190" MONDO:0005777 "NCIT:C3065" MONDO:0005777 "MESH:D006100" @@ -60803,10 +59310,10 @@ MONDO:0005777 "DOID:9113" NCBITaxon:772 "PMID:8240958" NCBITaxon:772 "GC_ID:11" MONDO:0012868 "UMLS:C3278211" +MONDO:0012868 "ICD10CM:D68.8" MONDO:0012868 "MESH:C567077" MONDO:0012868 "Orphanet:743" MONDO:0012868 "OMIM:612336" -MONDO:0012868 "ICD10:D68.8" MONDO:0012868 "MedDRA:10068370" MONDO:0012868 "Orphanet:26349" MONDO:0008031 "UMLS:C1834671" @@ -60841,22 +59348,20 @@ MONDO:0004629 "DOID:8645" MONDO:0004629 "ICD9:293.1" MONDO:0011518 "MESH:C536704" MONDO:0011518 "Orphanet:319182" +MONDO:0011518 "ICD10CM:Q87.1" MONDO:0011518 "GARD:0005565" MONDO:0011518 "OMIM:605130" -MONDO:0011518 "ICD10:Q87.1" MONDO:0016922 "SCTID:726340005" MONDO:0016922 "Orphanet:262196" NCBITaxon:106179 "GC_ID:11" HP:0011390 "UMLS:C4023381" MONDO:0002974 "SCTID:363354003" MONDO:0002974 "DOID:4362" -MONDO:0002974 "ICD10:C53" MONDO:0002974 "NCIT:C9311" MONDO:0002974 "ICD9:180" MONDO:0002974 "ICD9:180.9" MONDO:0002974 "ICD9:180.8" MONDO:0002974 "UMLS:C0302592" -MONDO:0002974 "ICD10:C53.9" MONDO:0002974 "OMIM:603956" MONDO:0002974 "NCIT:C2940" MONDO:0017014 "Orphanet:264656" @@ -60869,7 +59374,7 @@ MONDO:0004135 "NCIT:C35829" MONDO:0004135 "UMLS:C0271814" MONDO:0015702 "UMLS:C1837028" MONDO:0015702 "DOID:0060014" -MONDO:0015702 "ICD10:D81.2" +MONDO:0015702 "ICD10CM:D81.2" MONDO:0015702 "OMIM:608971" MONDO:0015702 "Orphanet:169157" MONDO:0007358 "SCTID:254219004" @@ -60877,8 +59382,8 @@ MONDO:0007358 "MESH:C562838" MONDO:0007358 "ICD9:757.39" MONDO:0007358 "OMIM:120450" MONDO:0007358 "UMLS:C0345424" +MONDO:0006335 "ICD10CM:C56" MONDO:0006335 "NCIT:C7979" -MONDO:0006335 "ICD10:C56" MONDO:0006335 "UMLS:C0346163" MONDO:0006335 "Orphanet:454723" MONDO:0006335 "EFO:1000416" @@ -60890,36 +59395,38 @@ MONDO:0019394 "OMIM:616217" MONDO:0019394 "OMIM:613550" MONDO:0019394 "Orphanet:84081" MONDO:0019394 "SCTID:717187000" +MONDO:0021669 "ICD10CM:B90-B94" MONDO:0021669 "SCTID:123976001" MONDO:0021669 "ICD9:139.8" -MONDO:0016276 "ICD10:C53.8" -MONDO:0016276 "ICD10:C53.1" +MONDO:0016276 "ICD10CM:C53.8" MONDO:0016276 "UMLS:CN201066" MONDO:0016276 "Orphanet:213777" -MONDO:0016276 "ICD10:C53.0" +MONDO:0016276 "ICD10CM:C53.0" +MONDO:0016276 "ICD10CM:C53.1" MONDO:0006264 "EFO:1000319" MONDO:0006264 "NCIT:C9462" MONDO:0006264 "UMLS:C1334368" MONDO:0006264 "DOID:4869" +MONDO:0019652 "ICD10CM:N04.3" MONDO:0019652 "Orphanet:93214" MONDO:0019652 "UMLS:CN206525" -MONDO:0019652 "ICD10:N04.3" MONDO:0010700 "MESH:C564084" MONDO:0010700 "OMIM:311100" MONDO:0010700 "UMLS:C1839565" -MONDO:0001834 "ICD10:H47.9" MONDO:0001834 "SCTID:95776004" MONDO:0001834 "NCIT:C35342" MONDO:0001834 "DOID:1393" MONDO:0001834 "SCTID:54767005" MONDO:0001834 "UMLS:C0155287" +MONDO:0001834 "ICD10CM:H46-H47" +MONDO:0001834 "ICD10CM:H47.9" MONDO:0018455 "Orphanet:404571" +MONDO:0014019 "ICD10CM:G24.8" MONDO:0014019 "EFO:0009040" MONDO:0014019 "OMIM:615034" MONDO:0014019 "UMLS:C3554374" MONDO:0014019 "DOID:0090052" MONDO:0014019 "Orphanet:420485" -MONDO:0014019 "ICD10:G24.8" MONDO:0005576 "NCIT:C26736" MONDO:0005576 "GARD:0006217" MONDO:0005576 "ICD9:273.2" @@ -60928,7 +59435,7 @@ MONDO:0005576 "UMLS:C0010403" MONDO:0005576 "DOID:2917" MONDO:0005576 "SCTID:30911005" MONDO:0005576 "MESH:D003449" -MONDO:0005576 "ICD10:D89.1" +MONDO:0005576 "ICD10CM:D89.1" NCBITaxon:119095 "GC_ID:1" MONDO:0006522 "SCTID:400166009" MONDO:0006522 "DOID:13072" @@ -60954,19 +59461,19 @@ MONDO:0012237 "UMLS:C1836472" MONDO:0012237 "MESH:C538398" MONDO:0012237 "OMIM:609273" MONDO:0012237 "DOID:0110935" -MONDO:0009711 "GARD:0006161" -MONDO:0009711 "ICD10:G71.2" -MONDO:0009711 "UMLS:C0546264" -MONDO:0009711 "DOID:0080102" -MONDO:0009711 "OMIM:255310" +MONDO:0009711 "ICD10CM:G71.2" MONDO:0009711 "Orphanet:2020" -MONDO:0009711 "OMIM:300580" +MONDO:0009711 "OMIM:255310" +MONDO:0009711 "DOID:0080102" +MONDO:0009711 "UMLS:C0546264" MONDO:0009711 "NCIT:C120046" -MONDO:0022178 "UMLS:CN037259" -MONDO:0022178 "MESH:C535486" -MONDO:0015872 "ICD10:D24" +MONDO:0009711 "GARD:0006161" +MONDO:0009711 "OMIM:300580" +MONDO:0015872 "ICD10CM:D24" MONDO:0015872 "Orphanet:180267" MONDO:0015872 "UMLS:CN200476" +MONDO:0022178 "UMLS:CN037259" +MONDO:0022178 "MESH:C535486" NCBITaxon:693766 "GC_ID:1" MONDO:0020134 "Orphanet:98520" MONDO:0020134 "SCTID:35111000119109" @@ -60992,8 +59499,8 @@ MONDO:0013678 "OMIM:614303" MONDO:0013678 "UMLS:C3280392" MONDO:0013678 "Orphanet:293936" MONDO:0008952 "MESH:C565862" -MONDO:0008952 "ICD10:Q87.5" MONDO:0008952 "GARD:0001210" +MONDO:0008952 "ICD10CM:Q87.5" MONDO:0008952 "SCTID:720635002" MONDO:0008952 "Orphanet:1394" MONDO:0008952 "OMIM:213980" @@ -61006,7 +59513,7 @@ HP:0012384 "UMLS:C0035455" HP:0012384 "SNOMEDCT_US:70076002" HP:0001939 "UMLS:C4021768" MONDO:0017912 "Orphanet:320332" -MONDO:0017912 "ICD10:G11.4" +MONDO:0017912 "ICD10CM:G11.4" MONDO:0007900 "DOID:0080081" MONDO:0007900 "GARD:0002555" MONDO:0007900 "SCTID:74102009" @@ -61015,31 +59522,30 @@ MONDO:0007900 "OMIM:151600" MONDO:0007900 "Orphanet:2387" MONDO:0007900 "MESH:C537289" HP:0100887 "UMLS:C4021945" -MONDO:0010466 "ICD10:Q87.8" MONDO:0010466 "OMIM:300868" MONDO:0010466 "GARD:0012777" +MONDO:0010466 "ICD10CM:Q87.8" MONDO:0010466 "Orphanet:300496" MONDO:0010466 "UMLS:C3275508" MONDO:0010466 "DOID:0080139" MONDO:0020531 "GARD:0009700" +MONDO:0020531 "ICD10CM:E71.3" MONDO:0020531 "NCIT:C84537" MONDO:0020531 "UMLS:C0220711" MONDO:0020531 "MESH:C535690" MONDO:0020531 "SCTID:237996001" MONDO:0020531 "Orphanet:99900" -MONDO:0020531 "ICD10:E71.3" MONDO:0011917 "OMIM:607832" MONDO:0031386 "OMIMPS:619142" MONDO:0008451 "DOID:0111200" +MONDO:0008451 "ICD10CM:G12.2" MONDO:0008451 "Orphanet:139518" -MONDO:0008451 "ICD10:G12.2" MONDO:0008451 "NCIT:C132826" MONDO:0008451 "UMLS:C1866784" MONDO:0008451 "OMIM:182960" MONDO:0008451 "MESH:C566675" MONDO:0001351 "ICD9:183.9" MONDO:0001351 "ICD9:183" -MONDO:0001351 "ICD10:C57.4" MONDO:0001351 "DOID:11747" MONDO:0000795 "DOID:0060520" MONDO:0000795 "NCIT:C34911" @@ -61048,15 +59554,13 @@ MONDO:0000795 "ICD9:V14.0" MONDO:0000795 "UMLS:C0030824" MONDO:0007254 "DOID:1612" MONDO:0007254 "SCTID:254837009" -MONDO:0007254 "ICD10:C50" -MONDO:0007254 "ICD10:C50-C50" MONDO:0007254 "OMIM:605365" MONDO:0007254 "NCIT:C9335" MONDO:0007254 "MESH:D001943" MONDO:0007254 "SCTID:126926005" MONDO:0007254 "ICD9:174.8" +MONDO:0007254 "ICD10CM:C50" MONDO:0007254 "OMIM:600048" -MONDO:0005942 "ICD10:G93.7" MONDO:0005942 "UMLS:C0035400" MONDO:0005942 "MESH:D012202" MONDO:0005942 "EFO:0007467" @@ -61065,12 +59569,12 @@ MONDO:0005942 "GARD:0007570" MONDO:0005942 "ICD9:331.81" MONDO:0005942 "NCIT:C34983" MONDO:0005942 "SCTID:74351001" +MONDO:0005942 "ICD10CM:G93.7" MONDO:0005942 "MedDRA:10039012" MONDO:0005942 "Orphanet:3096" MONDO:0002824 "ICD9:425.8" MONDO:0002824 "SCTID:195029002" MONDO:0002824 "DOID:3978" -MONDO:0014293 "ICD10:H90.3" MONDO:0014293 "OMIM:615654" MONDO:0014293 "DOID:0110582" MONDO:0012981 "DOID:0110919" @@ -61086,7 +59590,7 @@ MONDO:0015000 "UMLS:C4310637" MONDO:0015000 "DOID:0080448" MONDO:0015000 "OMIM:617276" MONDO:0011048 "OMIM:601352" -MONDO:0011048 "ICD10:Q87.8" +MONDO:0011048 "ICD10CM:Q87.8" MONDO:0011048 "Orphanet:1948" MONDO:0011048 "GARD:0000836" MONDO:0008334 "DOID:0111286" @@ -61095,27 +59599,26 @@ MONDO:0009892 "OMIM:263400" MONDO:0009892 "MESH:C563918" MONDO:0009892 "UMLS:C1837915" MONDO:0009892 "Orphanet:238557" -MONDO:0009892 "ICD10:D75.1" MONDO:0009892 "DOID:0060474" +MONDO:0009892 "ICD10CM:D75.1" NCBITaxon:85708 "GC_ID:1" -MONDO:0013227 "ICD10:D68.8" MONDO:0013227 "Orphanet:465" MONDO:0013227 "NCIT:C133884" MONDO:0013227 "MESH:C567640" +MONDO:0013227 "ICD10CM:D68.8" MONDO:0013227 "OMIM:613329" MONDO:0013227 "GARD:0004381" MONDO:0013227 "SCTID:717407006" -MONDO:0015499 "ICD10:Q87.0" MONDO:0015499 "Orphanet:156224" +MONDO:0015499 "ICD10CM:Q87.0" MONDO:0045072 "NCIT:C4065" MONDO:0045072 "UMLS:C0851689" HP:0003621 "UMLS:C4025588" -MONDO:0015304 "ICD10:G03" +MONDO:0015304 "ICD10CM:G03.9" MONDO:0015304 "NCIT:C37913" MONDO:0015304 "MESH:D001100" MONDO:0015304 "Orphanet:137817" MONDO:0015304 "DOID:12156" -MONDO:0015304 "ICD10:G03.9" MONDO:0015304 "SCTID:13980006" MONDO:0015304 "UMLS:C0003708" MONDO:0015304 "UMLS:C0270617" @@ -61126,8 +59629,8 @@ MONDO:0010702 "MESH:D009958" MONDO:0010702 "NCIT:C75481" MONDO:0010702 "MESH:C537134" MONDO:0010702 "SCTID:52868006" +MONDO:0010702 "ICD10CM:Q87.0" MONDO:0010702 "Orphanet:2750" -MONDO:0010702 "ICD10:Q87.0" MONDO:0010702 "GARD:0004121" MONDO:0010702 "SCTID:1779005" MONDO:0010702 "UMLS:C2698658" @@ -61137,13 +59640,12 @@ MONDO:0010702 "DOID:0060316" MONDO:0010702 "SCTID:763833006" MONDO:0001836 "UMLS:C0002453" MONDO:0001836 "MESH:D000568" -MONDO:0001836 "ICD10:N91.2" MONDO:0001836 "NCIT:C61443" MONDO:0001836 "DOID:13938" MONDO:0001836 "HP:0000141" MONDO:0001836 "ICD9:626.0" +MONDO:0017504 "ICD10CM:Q72.3" MONDO:0017504 "Orphanet:295105" -MONDO:0017504 "ICD10:Q72.3" HP:0011747 "UMLS:C4023206" HP:0011747 "UMLS:C0032002" HP:0011747 "MSH:D010900" @@ -61153,7 +59655,6 @@ MONDO:0016441 "SCTID:403401007" MONDO:0016441 "ICD9:757.39" MONDO:0016441 "UMLS:C1274759" MONDO:0012489 "Orphanet:91492" -MONDO:0012489 "ICD10:Q12.0" MONDO:0012489 "OMIM:610425" MONDO:0012489 "DOID:0110271" MONDO:0012489 "UMLS:C3808012" @@ -61162,7 +59663,6 @@ MONDO:0001282 "SCTID:22611009" MONDO:0001282 "NCIT:C26763" MONDO:0001282 "DOID:11424" MONDO:0001282 "UMLS:C0014177" -MONDO:0001282 "ICD10:N80.2" MONDO:0001282 "ICD9:617.2" MONDO:0008555 "OMIM:188000" MONDO:0008555 "NCIT:C129035" @@ -61172,41 +59672,39 @@ MONDO:0008555 "GARD:0005191" MONDO:0008555 "MESH:C536519" MONDO:0018620 "Orphanet:443101" MONDO:0018620 "UMLS:CN237660" -MONDO:0018620 "ICD10:E23.3" +MONDO:0018620 "ICD10CM:E23.3" +MONDO:0009501 "ICD10CM:G72.8" MONDO:0009501 "OMIM:245340" MONDO:0009501 "SCTID:766715000" MONDO:0009501 "Orphanet:171690" -MONDO:0009501 "ICD10:G72.8" MONDO:0009501 "MESH:C565449" MONDO:0009501 "UMLS:C1855577" MONDO:0014668 "DOID:0080360" MONDO:0014668 "Orphanet:1561" MONDO:0014668 "UMLS:C4225304" MONDO:0014668 "OMIM:616501" -MONDO:0018906 "ICD10:C82.7" MONDO:0018906 "UMLS:C0024301" -MONDO:0018906 "ICD10:C82.0" +MONDO:0018906 "ICD10CM:C82.1" +MONDO:0018906 "ICD10CM:C82.9" +MONDO:0018906 "ICD10CM:C82.4" MONDO:0018906 "Orphanet:545" MONDO:0018906 "OMIM:613024" MONDO:0018906 "NCIT:C3209" -MONDO:0018906 "ICD10:C82.5" -MONDO:0018906 "ICD10:C82.3" -MONDO:0018906 "ICD10:C82.1" +MONDO:0018906 "ICD10CM:C82.2" MONDO:0018906 "MESH:D008224" +MONDO:0018906 "ICD10CM:C82.5" MONDO:0018906 "GARD:0002356" MONDO:0018906 "DOID:0050873" MONDO:0018906 "ICDO:9690/3" -MONDO:0018906 "ICD10:C82.6" -MONDO:0018906 "ICD10:C82.9" -MONDO:0018906 "ICD10:C82.4" -MONDO:0018906 "ICD10:C82.2" +MONDO:0018906 "ICD10CM:C82.3" MONDO:0018906 "ONCOTREE:FL" +MONDO:0018906 "ICD10CM:C82.6" MONDO:0018906 "SCTID:308121000" MONDO:0018906 "HGNC:990" +MONDO:0018906 "ICD10CM:C82.0" MONDO:0016745 "Orphanet:252031" HP:0010988 "UMLS:C4023611" MONDO:0013750 "OMIM:614433" -MONDO:0013750 "ICD10:Q21.1" MONDO:0013750 "DOID:0110113" MONDO:0013750 "Orphanet:1478" MONDO:0003439 "NCIT:C7414" @@ -61231,19 +59729,18 @@ MONDO:0009137 "MESH:C565610" MONDO:0009137 "OMIM:224250" MONDO:0009137 "UMLS:C1857143" MONDO:0002345 "SCTID:37610005" -MONDO:0002345 "NCIT:C26716" MONDO:0002345 "HP:0030160" MONDO:0002345 "ICD9:616.0" +MONDO:0002345 "NCIT:C26716" MONDO:0002345 "MESH:D002575" -MONDO:0002345 "ICD10:N72" MONDO:0002345 "DOID:2568" +MONDO:0015733 "ICD10CM:Q42.3" MONDO:0015733 "UMLS:C0345218" MONDO:0015733 "SCTID:253772005" MONDO:0015733 "ICD9:751.5" -MONDO:0015733 "ICD10:Q42.3" MONDO:0015733 "Orphanet:171215" MONDO:0015733 "NCIT:C98975" -MONDO:0015733 "ICD10:Q42.2" +MONDO:0015733 "ICD10CM:Q42.2" MONDO:0006087 "EFO:1000088" MONDO:0006087 "ONCOTREE:APAD" MONDO:0006087 "DOID:3608" @@ -61261,9 +59758,7 @@ MONDO:0001657 "DOID:1319" MONDO:0001657 "ICD9:191.9" MONDO:0001657 "NCIT:C4952" MONDO:0001657 "GARD:0009307" -MONDO:0001657 "ICD10:C71" MONDO:0001657 "NCIT:C3568" -MONDO:0001657 "ICD10:C71.9" MONDO:0001657 "SCTID:428061005" MONDO:0001657 "NCIT:C2907" MONDO:0001657 "ICD9:239.6" @@ -61279,7 +59774,7 @@ HP:0002248 "UMLS:C0018926" HP:0002248 "MSH:D006396" HP:0002248 "SNOMEDCT_US:8765009" MONDO:0015391 "UMLS:C4531264" -MONDO:0015391 "ICD10:D10.6" +MONDO:0015391 "ICD10CM:D10.6" MONDO:0015391 "Orphanet:141107" MONDO:0000387 "UMLS:C0271901" MONDO:0000387 "DOID:0050642" @@ -61291,10 +59786,9 @@ MONDO:0000387 "HP:0004840" MONDO:0003786 "DOID:6160" MONDO:0003786 "UMLS:C1333006" MONDO:0003786 "NCIT:C6544" -MONDO:0009324 "ICD10:E72.0" MONDO:0009324 "OMIM:234500" -MONDO:0009324 "ICD10:E72.02" MONDO:0009324 "MESH:D006250" +MONDO:0009324 "ICD10CM:E72.0" MONDO:0009324 "Orphanet:2116" MONDO:0009324 "NCIT:C84748" MONDO:0009324 "UMLS:C0018609" @@ -61328,7 +59822,6 @@ MONDO:0006815 "ICD9:152.1" MONDO:0006815 "EFO:1000998" MONDO:0006815 "MedDRA:10023166" MONDO:0006815 "MESH:D007580" -MONDO:0006815 "ICD10:C17.1" NCBITaxon:162997 "GC_ID:1" NCBITaxon:2732462 "GC_ID:1" MONDO:0042452 "SCTID:88037009" @@ -61346,7 +59839,6 @@ MONDO:0010631 "Wikipedia:Incongenita_pigmenti" MONDO:0010631 "OMIM:308300" MONDO:0010631 "DOID:12305" MONDO:0010631 "EFO:1000672" -MONDO:0010631 "ICD10:Q82.3" MONDO:0010631 "SCTID:367520004" MONDO:0010631 "NCIT:C84787" MONDO:0010631 "UMLS:C0021171" @@ -61355,7 +59847,7 @@ MONDO:0010631 "Orphanet:464" MONDO:0010631 "MESH:D007184" MONDO:0018993 "Orphanet:64746" MONDO:0018993 "ICD9:356.0" -MONDO:0018993 "ICD10:G60.0" +MONDO:0018993 "ICD10CM:G60.0" MONDO:0018993 "SCTID:715665006" MONDO:0018993 "DOID:0050539" MONDO:0018993 "GARD:0012431" @@ -61363,11 +59855,9 @@ MONDO:0018993 "OMIM:604484" MONDO:0018993 "OMIM:118230" MONDO:0033630 "OMIM:619056" MONDO:0016220 "Orphanet:210576" -MONDO:0016220 "ICD10:K07.6" MONDO:0016220 "SCTID:763215008" MONDO:0012268 "SCTID:62479008" MONDO:0012268 "NCIT:C2851" -MONDO:0012268 "ICD10:B20" MONDO:0012268 "EFO:0000765" MONDO:0012268 "DOID:635" MONDO:0012268 "MESH:D000163" @@ -61375,30 +59865,30 @@ MONDO:0019737 "GARD:0012465" MONDO:0019737 "SCTID:126729006" MONDO:0019737 "Orphanet:93573" MONDO:0019737 "MESH:D057049" +MONDO:0019737 "ICD10CM:M31.1" MONDO:0019737 "MedDRA:10043645" MONDO:0019737 "UMLS:C2717961" MONDO:0019737 "ICD9:446.6" MONDO:0019737 "NCIT:C62605" -MONDO:0019737 "ICD10:M31.1" MONDO:0022772 "NCIT:C9112" MONDO:0022772 "UMLS:C0279084" MONDO:0011707 "UMLS:C1847627" MONDO:0011707 "SCTID:763352005" MONDO:0011707 "MESH:C564676" MONDO:0011707 "OMIM:606703" +MONDO:0011707 "ICD10CM:G51.4" MONDO:0011707 "GARD:0012722" MONDO:0011707 "Orphanet:324588" -MONDO:0011707 "ICD10:G51.4" MONDO:0013384 "OMIM:613712" MONDO:0013384 "Orphanet:388" MONDO:0032737 "OMIM:618418" MONDO:0009033 "DOID:0111621" -MONDO:0009033 "ICD10:Q87.8" MONDO:0009033 "MESH:C536959" MONDO:0009033 "NCIT:C148371" MONDO:0009033 "SCTID:719947004" MONDO:0009033 "Orphanet:1777" MONDO:0009033 "GARD:0005688" +MONDO:0009033 "ICD10CM:Q87.8" MONDO:0009033 "OMIM:218340" MONDO:0009033 "UMLS:C1857512" NCBITaxon:42407 "GC_ID:1" @@ -61412,7 +59902,6 @@ MONDO:0011213 "MESH:C566559" MONDO:0011213 "OMIM:602342" MONDO:0011213 "UMLS:C1865644" MONDO:0014436 "OMIM:615985" -MONDO:0014436 "ICD10:Q87.89" MONDO:0014436 "DOID:0110130" MONDO:0014436 "UMLS:C1859566" MONDO:0014436 "OMIM:209900" @@ -61420,22 +59909,22 @@ MONDO:0014436 "MESH:C565917" MONDO:0014436 "GARD:0010207" MONDO:0009079 "Orphanet:3231" MONDO:0009079 "DOID:0111627" +MONDO:0009079 "ICD10CM:Q87.8" MONDO:0009079 "SCTID:719800009" MONDO:0009079 "Orphanet:79500" MONDO:0009079 "GARD:0001685" MONDO:0009079 "OMIM:220500" -MONDO:0009079 "ICD10:Q87.8" MONDO:0009079 "MESH:C563052" MONDO:0014612 "UMLS:C4225347" MONDO:0014612 "OMIM:616371" MONDO:0014612 "Orphanet:2032" MONDO:0007098 "SCTID:703220002" +MONDO:0007098 "ICD10EXP:I68.0*" +MONDO:0007098 "ICD10EXP:E85.4+" MONDO:0007098 "Orphanet:100008" MONDO:0007098 "ICD9:437.8" MONDO:0007098 "DOID:0070027" MONDO:0007098 "OMIM:105150" -MONDO:0007098 "ICD10:E85.4+" -MONDO:0007098 "ICD10:I68.0*" MONDO:0007098 "ICD9:277.39" MONDO:0007098 "Orphanet:85458" MONDO:0004532 "DOID:833" @@ -61467,14 +59956,13 @@ MONDO:0018908 "MESH:D008228" MONDO:0012654 "MESH:C566963" MONDO:0012654 "Orphanet:1478" MONDO:0012654 "OMIM:611363" -MONDO:0012654 "ICD10:Q21.1" MONDO:0012654 "UMLS:C1969657" MONDO:0012654 "DOID:0110109" MONDO:0011400 "OMIM:604145" -MONDO:0011400 "ICD10:I42.0" MONDO:0011400 "UMLS:C1858763" MONDO:0011400 "MESH:C565824" MONDO:0011400 "DOID:0110430" +MONDO:0011400 "ICD10CM:I42.0" MONDO:0007965 "UMLS:C1835043" MONDO:0007965 "MESH:C563596" MONDO:0007965 "Orphanet:618" @@ -61491,7 +59979,7 @@ MONDO:0006711 "ICD9:423.2" MONDO:0013600 "NCIT:C28286" MONDO:0013600 "MESH:D007319" MONDO:0013600 "SCTID:193462001" -MONDO:0013600 "ICD10:G47.0" +MONDO:0013600 "ICD10CM:G47.0" MONDO:0013600 "HP:0100785" MONDO:0013600 "EFO:0004698" MONDO:0013600 "ICD9:780.52" @@ -61500,9 +59988,9 @@ MONDO:0035121 "Orphanet:589542" MONDO:0035121 "NCIT:C129853" MONDO:0000218 "UMLS:CN282827" MONDO:0000218 "OMIMPS:616814" +MONDO:0019067 "ICD10CM:N04.0" MONDO:0019067 "OMIM:615861" MONDO:0019067 "Orphanet:69061" -MONDO:0019067 "ICD10:N04.0" MONDO:0002418 "NCIT:C6237" MONDO:0002418 "UMLS:C1333472" MONDO:0002418 "DOID:2766" @@ -61530,7 +60018,7 @@ MONDO:0100239 "OMIM:610260" HP:0003027 "UMLS:C0549306" MONDO:0014956 "OMIM:617180" MONDO:0014956 "UMLS:C4310679" -MONDO:0018425 "ICD10:G10" +MONDO:0018425 "ICD10CM:G10" MONDO:0018425 "Orphanet:401901" MONDO:0018425 "UMLS:CN226138" MONDO:0008536 "OMIM:187340" @@ -61542,31 +60030,27 @@ MONDO:0012199 "OMIM:609140" MONDO:0012199 "DOID:0110856" MONDO:0012199 "MESH:C565176" MONDO:0012199 "Orphanet:98973" -MONDO:0012199 "ICD10:H18.50" MONDO:0022603 "GARD:0000977" MONDO:0013386 "DOID:0110523" MONDO:0013386 "Orphanet:90636" -MONDO:0013386 "ICD10:H90.3" MONDO:0013386 "OMIM:613718" MONDO:0013386 "UMLS:C2239351" MONDO:0017210 "UMLS:C0154911" MONDO:0017210 "ICD9:364.03" -MONDO:0017210 "ICD10:H20.8" +MONDO:0017210 "ICD10CM:H20.1" MONDO:0017210 "Orphanet:279922" -MONDO:0017210 "ICD10:H20.1" +MONDO:0017210 "ICD10CM:H20.0" MONDO:0017210 "SCTID:193487008" -MONDO:0017210 "ICD10:H20.0" -MONDO:0017210 "ICD10:H20.2" MONDO:0017210 "DOID:9389" -MONDO:0017210 "ICD10:H20.03" -MONDO:0017210 "ICD10:H20.9" +MONDO:0017210 "ICD10CM:H20.2" +MONDO:0017210 "ICD10CM:H20.9" +MONDO:0017210 "ICD10CM:H20.8" MONDO:0002206 "NCIT:C4810" -MONDO:0002206 "ICD10:C44" MONDO:0002206 "DOID:2095" MONDO:0002206 "UMLS:C1321904" +MONDO:0014332 "ICD10CM:E74.8" MONDO:0014332 "UMLS:C3810404" MONDO:0014332 "GARD:0013201" -MONDO:0014332 "ICD10:E74.8" MONDO:0014332 "OMIM:615751" MONDO:0014332 "SCTID:764456001" MONDO:0014332 "Orphanet:401948" @@ -61577,7 +60061,6 @@ MONDO:0004636 "NCIT:C4588" MONDO:0004636 "SCTID:92643000" MONDO:0004636 "ICD9:230.0" MONDO:0004636 "DOID:8661" -MONDO:0004636 "ICD10:D00.0" MONDO:0010883 "UMLS:C2931302" MONDO:0010883 "Orphanet:2835" MONDO:0010883 "MESH:C536728" @@ -61589,14 +60072,14 @@ MONDO:0019590 "UMLS:CN206437" MONDO:0040653 "SCTID:78921008" MONDO:0015170 "SCTID:18805001" MONDO:0015170 "Orphanet:103908" +MONDO:0015170 "ICD10CM:P78.3" MONDO:0015170 "OMIM:616868" -MONDO:0015170 "ICD10:P78.3" MONDO:0015170 "OMIM:270420" MONDO:0018393 "OMIM:258150" MONDO:0018393 "OMIM:613957" MONDO:0018393 "OMIM:615841" MONDO:0018393 "OMIM:270960" -MONDO:0018393 "ICD10:N46" +MONDO:0018393 "ICD10CM:N46" MONDO:0018393 "OMIM:615081" MONDO:0018393 "OMIM:616950" MONDO:0018393 "OMIM:305700" @@ -61611,33 +60094,33 @@ MONDO:0018729 "UMLS:CN242080" MONDO:0019457 "GARD:0012762" MONDO:0019457 "Orphanet:86846" MONDO:0019457 "NCIT:C25765" -MONDO:0019457 "ICD10:C92.0" MONDO:0019457 "OMIM:601626" +MONDO:0019457 "ICD10CM:C92.0" MONDO:0019457 "SCTID:721306009" MONDO:0000647 "UMLS:C0154002" MONDO:0000647 "NCIT:C3610" MONDO:0000647 "DOID:0060114" MONDO:0000647 "SCTID:92473001" MONDO:0000647 "ICD9:221.1" -MONDO:0018612 "ICD10:E00.1" +MONDO:0018612 "ICD10CM:E00.1" MONDO:0018612 "OMIM:218700" MONDO:0018612 "OMIM:274700" +MONDO:0018612 "ICD10CM:E03.1" MONDO:0018612 "NCIT:C98921" MONDO:0018612 "OMIM:275200" -MONDO:0018612 "ICD10:E00.0" MONDO:0018612 "ICD9:269.3" MONDO:0018612 "DOID:0050328" MONDO:0018612 "OMIM:274500" MONDO:0018612 "MESH:D003409" -MONDO:0018612 "ICD10:E00.2" +MONDO:0018612 "ICD10CM:E00.0" +MONDO:0018612 "ICD10CM:E00.2" MONDO:0018612 "MedDRA:10010510" MONDO:0018612 "OMIM:275100" MONDO:0018612 "OMIM:225250" +MONDO:0018612 "ICD10CM:E00.9" MONDO:0018612 "OMIM:274400" -MONDO:0018612 "ICD10:E00.9" MONDO:0018612 "NCIT:C26734" MONDO:0018612 "SCTID:190268003" -MONDO:0018612 "ICD10:E03.0" MONDO:0018612 "Orphanet:442" MONDO:0018612 "OMIM:274900" MONDO:0018612 "GARD:0001487" @@ -61646,13 +60129,12 @@ MONDO:0018612 "OMIM:614450" MONDO:0018612 "ICD9:759.89" MONDO:0018612 "SCTID:217710005" MONDO:0018612 "ICD9:243" +MONDO:0018612 "ICD10CM:E03.0" MONDO:0018612 "UMLS:C0010308" -MONDO:0018612 "ICD10:E03.1" MONDO:0018612 "OMIM:607200" MONDO:0024483 "NCIT:C27877" MONDO:0000424 "DOID:0050731" MONDO:0000424 "EFO:0000734" -MONDO:0014215 "ICD10:Q34.8" MONDO:0014215 "UMLS:C3809701" MONDO:0014215 "OMIM:615504" MONDO:0014215 "DOID:0110611" @@ -61667,14 +60149,12 @@ MONDO:0005240 "UMLS:C0022658" MONDO:0005240 "SCTID:90708001" MONDO:0005240 "DOID:557" MONDO:0005240 "NCIT:C3149" -MONDO:0005240 "ICD10:N08" +MONDO:0005240 "ICD10CM:N25-N29" MONDO:0005240 "EFO:0003086" -MONDO:0005240 "ICD10:N28.9" MONDO:0005240 "MESH:D007674" MONDO:0008757 "UMLS:C0263505" MONDO:0008757 "OMIM:610753" MONDO:0008757 "OMIM:203655" -MONDO:0008757 "ICD10:L63.1" MONDO:0008757 "OMIM:104000" MONDO:0008757 "DOID:0050634" MONDO:0008757 "SCTID:86166000" @@ -61689,9 +60169,10 @@ MONDO:0020847 "OMIM:618106" MONDO:0005218 "DOID:0080000" MONDO:0005218 "EFO:0002970" MONDO:0005218 "MESH:D009135" +MONDO:0005218 "ICD10CM:M60-M63" MONDO:0017717 "UMLS:CN203613" +MONDO:0017717 "ICD10CM:E71.3" MONDO:0017717 "Orphanet:309133" -MONDO:0017717 "ICD10:E71.3" MONDO:0009190 "OMIM:226950" MONDO:0009190 "UMLS:C1856918" MONDO:0009190 "MESH:C565585" @@ -61700,7 +60181,6 @@ MONDO:0002051 "UMLS:C1290011" MONDO:0002051 "DOID:16" MONDO:0005568 "ICD9:459.89" MONDO:0005568 "DOID:1461" -MONDO:0005568 "ICD10:I75" MONDO:0005568 "EFO:0005801" MONDO:0005568 "ICD9:445" MONDO:0005568 "MESH:D017700" @@ -61712,7 +60192,7 @@ MONDO:0012433 "OMIM:610189" MONDO:0012433 "MESH:C565708" MONDO:0012433 "Orphanet:3156" MONDO:0007768 "NCIT:C48287" -MONDO:0007768 "ICD10:E21.0" +MONDO:0007768 "ICD10CM:E21.0" MONDO:0007768 "GARD:0010829" MONDO:0007768 "SCTID:702378002" MONDO:0007768 "OMIM:145001" @@ -61729,7 +60209,7 @@ MONDO:0008944 "OMIM:213300" MONDO:0008944 "UMLS:CN119531" MONDO:0008944 "DOID:0110980" NCBITaxon:1933264 "GC_ID:1" -MONDO:0016315 "ICD10:E76.1" +MONDO:0016315 "ICD10CM:E76.1" MONDO:0016315 "SCTID:73146005" MONDO:0016315 "UMLS:CN201131" MONDO:0016315 "Orphanet:217085" @@ -61741,14 +60221,13 @@ MONDO:0001156 "DOID:10930" MONDO:0001156 "SCTID:20010003" MONDO:0001156 "MESH:D001883" MONDO:0001156 "HP:0012076" -MONDO:0001156 "ICD10:F60.3" MONDO:0001156 "NCIT:C92633" MONDO:0021154 "UMLS:CN227618" MONDO:0021154 "Orphanet:79381" MONDO:0010475 "OMIM:300888" +MONDO:0010475 "ICD10CM:E03.1" MONDO:0010475 "Orphanet:329235" MONDO:0010475 "UMLS:C3550963" -MONDO:0010475 "ICD10:E03.1" MONDO:0010475 "NCIT:C130989" MONDO:0010475 "DOID:0111140" MONDO:0021418 "UMLS:C0264248" @@ -61758,13 +60237,13 @@ MONDO:0021418 "ICD9:471.8" MONDO:0020540 "Orphanet:99914" MONDO:0020540 "SCTID:254867003" MONDO:0020540 "NCIT:C3072" +MONDO:0020540 "ICD10CM:D39.1" MONDO:0020540 "UMLS:C0346178" MONDO:0020540 "ICDO:8632/1" MONDO:0020540 "UMLS:C0018413" -MONDO:0020540 "ICD10:D40.1" MONDO:0020540 "EFO:1000422" MONDO:0020540 "GARD:0009665" -MONDO:0020540 "ICD10:D39.1" +MONDO:0020540 "ICD10CM:D40.1" MONDO:0008001 "MESH:C562823" MONDO:0008001 "UMLS:C0343079" MONDO:0008001 "SCTID:238749001" @@ -61773,18 +60252,18 @@ MONDO:0006180 "NCIT:C36207" MONDO:0006180 "DOID:4147" MONDO:0006180 "EFO:1000217" MONDO:0006180 "UMLS:C0948101" -MONDO:0008139 "ICD10:C41.9" +MONDO:0008139 "ICD10CM:C41.9" MONDO:0008139 "Orphanet:2760" MONDO:0008139 "OMIM:165660" MONDO:0008139 "MESH:C537138" MONDO:0008139 "GARD:0004129" MONDO:0008139 "UMLS:C1833792" MONDO:0008139 "SCTID:733064004" +MONDO:0016630 "ICD10CM:D69.1" MONDO:0016630 "UMLS:CN201837" MONDO:0016630 "Orphanet:248340" -MONDO:0016630 "ICD10:D69.1" MONDO:0009697 "MedDRA:10054030" -MONDO:0009697 "ICD10:G40.3" +MONDO:0009697 "ICD10CM:G40.3" MONDO:0009697 "DOID:3534" MONDO:0009697 "GARD:0008214" MONDO:0009697 "Orphanet:501" @@ -61798,14 +60277,14 @@ MONDO:0007263 "SCTID:698247007" MONDO:0007263 "EFO:0004269" MONDO:0007263 "ICD9:427.9" MONDO:0018204 "Orphanet:363659" +MONDO:0018204 "ICD10CM:Q93.5" MONDO:0018204 "UMLS:CN204718" -MONDO:0018204 "ICD10:Q93.5" MONDO:0018204 "SCTID:763061004" MONDO:0001039 "NCIT:C116006" -MONDO:0001039 "ICD10:J35.01" MONDO:0001039 "UMLS:C0040425" MONDO:0001039 "MESH:D014069" MONDO:0001039 "UMLS:C0149517" +MONDO:0001039 "ICD10CM:J35.01" MONDO:0001039 "DOID:10456" MONDO:0001039 "ICD9:474.00" MONDO:0001039 "SCTID:90979004" @@ -61813,16 +60292,16 @@ MONDO:0013189 "SCTID:17155009" MONDO:0013189 "MESH:D014256" MONDO:0013189 "DOID:0050587" MONDO:0013189 "ICD9:312.39" -MONDO:0013189 "ICD10:F63.3" MONDO:0013189 "OMIM:613229" MONDO:0013189 "GARD:0007803" +MONDO:0013189 "ICD10CM:F63.3" MONDO:0013189 "NCIT:C94336" MONDO:0002597 "DOID:3303" MONDO:0002597 "UMLS:C1335069" MONDO:0002597 "NCIT:C7063" MONDO:0003671 "DOID:5846" MONDO:0011877 "MESH:C536056" -MONDO:0011877 "ICD10:Q78.2" +MONDO:0011877 "ICD10CM:Q78.2" MONDO:0011877 "UMLS:C1843330" MONDO:0011877 "OMIM:607634" MONDO:0011877 "DOID:0110937" @@ -61832,13 +60311,12 @@ MONDO:0003500 "UMLS:C0861861" MONDO:0003500 "DOID:5537" MONDO:0003500 "NCIT:C5777" MONDO:0010662 "GARD:0002344" -MONDO:0010662 "ICD10:G82.1" MONDO:0010662 "OMIM:309560" MONDO:0010662 "MESH:C537058" MONDO:0010662 "Orphanet:2824" MONDO:0010662 "UMLS:C2745996" MONDO:0044233 "OMIM:139400" -MONDO:0008295 "ICD10:E80.1" +MONDO:0008295 "ICD10CM:E80.1" MONDO:0008295 "UMLS:C1867968" MONDO:0008295 "UMLS:C1276127" MONDO:0008295 "SCTID:402479002" @@ -61855,8 +60333,8 @@ MONDO:0018360 "GARD:0009563" MONDO:0018360 "NCIT:C99236" MONDO:0018360 "SCTID:95609003" MONDO:0018360 "MESH:C536397" -MONDO:0018360 "ICD10:M32.8" MONDO:0018360 "EFO:0004537" +MONDO:0018360 "ICD10CM:M32.8" MONDO:0018360 "UMLS:C0409979" MONDO:0003999 "DOID:6811" MONDO:0003999 "MESH:D001254" @@ -61864,9 +60342,9 @@ MONDO:0003999 "UMLS:C0280783" MONDO:0003999 "NCIT:C27081" MONDO:0007450 "SCTID:15771004" MONDO:0007450 "NCIT:C84933" +MONDO:0007450 "ICD10CM:E23.2" MONDO:0007450 "SCTID:45369008" MONDO:0007450 "Orphanet:30925" -MONDO:0007450 "ICD10:E23.2" MONDO:0007450 "DOID:12388" MONDO:0007450 "Orphanet:178029" MONDO:0007450 "OMIM:125700" @@ -61874,9 +60352,9 @@ MONDO:0014958 "OMIM:617183" MONDO:0014958 "UMLS:C4310677" NCBITaxon:11673 "GC_ID:1" MONDO:0001828 "SCTID:71676008" +MONDO:0001828 "ICD10CM:H53.52" MONDO:0001828 "DOID:13912" MONDO:0001828 "NCIT:C118712" -MONDO:0001828 "ICD10:H53.52" MONDO:0001828 "ICD9:368.55" MONDO:0004281 "UMLS:C1520081" MONDO:0004281 "DOID:7565" @@ -61886,19 +60364,20 @@ MONDO:0033200 "OMIM:617654" MONDO:0033200 "DOID:0080263" MONDO:0005492 "EFO:0005531" MONDO:0005492 "SCTID:126485001" +MONDO:0005492 "ICD10CM:L49-L54" MONDO:0005492 "HP:0001025" MONDO:0005492 "NCIT:C3432" MONDO:0005492 "ICD9:708" -MONDO:0005492 "ICD10:L50" MONDO:0005492 "DOID:1555" MONDO:0005492 "MESH:D014581" MONDO:0005492 "ICD9:708.8" MONDO:0005492 "UMLS:C0042109" +MONDO:0005492 "ICD10CM:L50" MONDO:0005492 "ICD9:708.9" -MONDO:0017687 "ICD10:E72.0" MONDO:0017687 "Orphanet:308451" +MONDO:0017687 "ICD10CM:E72.0" MONDO:0017687 "UMLS:CN203583" -MONDO:0016433 "ICD10:Q87.8" +MONDO:0016433 "ICD10CM:Q87.8" MONDO:0016433 "UMLS:CN201392" MONDO:0016433 "Orphanet:2282" MONDO:0014638 "OMIM:616435" @@ -61906,9 +60385,9 @@ MONDO:0014638 "UMLS:C4084840" MONDO:0014638 "DOID:0111081" MONDO:0013423 "MESH:C565360" MONDO:0013423 "UMLS:C3151085" -MONDO:0013423 "ICD10:D84.1" MONDO:0013423 "Orphanet:331187" MONDO:0013423 "OMIM:613791" +MONDO:0013423 "ICD10CM:D84.1" MONDO:0007957 "OMIM:155200" MONDO:0015031 "SCTID:768926005" MONDO:0015031 "Orphanet:100002" @@ -61921,29 +60400,27 @@ MONDO:0012153 "DOID:0111364" MONDO:0019622 "SCTID:129452008" MONDO:0019622 "NCIT:C35717" MONDO:0019622 "DOID:2801" -MONDO:0019622 "ICD10:J84.8" MONDO:0019622 "ICD9:516.8" MONDO:0019622 "Orphanet:91364" MONDO:0019622 "UMLS:C1290344" +MONDO:0019622 "ICD10CM:J84.8" MONDO:0017874 "SCTID:58868000" MONDO:0017874 "Orphanet:319223" -MONDO:0017874 "ICD10:A96.0" MONDO:0017874 "UMLS:C0019097" MONDO:0017874 "DOID:0050194" MONDO:0014825 "OMIM:616902" MONDO:0014825 "UMLS:C4311047" -MONDO:0017719 "ICD10:E75.10" MONDO:0017719 "SCTID:50967008" MONDO:0017719 "UMLS:C0017083" -MONDO:0017719 "ICD10:E75.1" MONDO:0017719 "GARD:0012510" -MONDO:0017719 "ICD10:E75.0" +MONDO:0017719 "ICD10CM:E75.0" MONDO:0017719 "DOID:2368" +MONDO:0017719 "ICD10CM:E75.1" MONDO:0017719 "Orphanet:309144" -MONDO:0001100 "ICD10:N62" MONDO:0001100 "NCIT:C3125" MONDO:0001100 "ICD9:611.1" MONDO:0001100 "DOID:10688" +MONDO:0001100 "ICD10CM:N62" MONDO:0001100 "GARD:0009450" MONDO:0001100 "SCTID:372281005" MONDO:0009129 "OMIM:223550" @@ -61954,14 +60431,14 @@ NCBITaxon:28314 "GC_ID:1" MONDO:0007042 "SCTID:83015004" MONDO:0007042 "OMIM:101400" MONDO:0007042 "UMLS:C0175699" -MONDO:0007042 "ICD10:Q87.0" MONDO:0007042 "MESH:D000168" MONDO:0007042 "DOID:14768" MONDO:0007042 "Orphanet:794" MONDO:0007042 "NCIT:C75034" MONDO:0007042 "GARD:0007598" MONDO:0007042 "EFO:0007029" -MONDO:0019926 "ICD10:Q99.8" +MONDO:0007042 "ICD10CM:Q87.0" +MONDO:0019926 "ICD10CM:Q99.8" MONDO:0019926 "SCTID:766760004" MONDO:0019926 "Orphanet:96201" MONDO:0012036 "OMIM:608437" @@ -61969,8 +60446,8 @@ MONDO:0013594 "Orphanet:276198" MONDO:0013594 "GARD:0012367" MONDO:0013594 "UMLS:C3472711" MONDO:0013594 "NCIT:C148316" -MONDO:0013594 "ICD10:G11.8" MONDO:0013594 "OMIM:614153" +MONDO:0013594 "ICD10CM:G11.8" MONDO:0013594 "DOID:0050983" MONDO:0013594 "SCTID:711158005" MONDO:0002029 "DOID:1512" @@ -61980,7 +60457,7 @@ MONDO:0002029 "UMLS:C0153206" MONDO:0011656 "MESH:C565240" MONDO:0011656 "OMIM:606263" MONDO:0011656 "UMLS:C1853473" -MONDO:0012867 "ICD10:G11.4" +MONDO:0012867 "ICD10CM:G11.4" MONDO:0012867 "OMIM:612335" MONDO:0012867 "Orphanet:171617" MONDO:0012867 "DOID:0110789" @@ -61992,7 +60469,7 @@ MONDO:0021004 "DOID:0050581" MONDO:0015538 "NCIT:C81767" MONDO:0015538 "UMLS:C2825741" MONDO:0015538 "ONCOTREE:IDCT" -MONDO:0015538 "ICD10:D76.3" +MONDO:0015538 "ICD10CM:D76.3" MONDO:0015538 "SCTID:721313009" MONDO:0015538 "Orphanet:158019" NCBITaxon:426437 "GC_ID:1" @@ -62003,15 +60480,17 @@ MONDO:0004628 "ICD9:535.4" MONDO:0004628 "DOID:8644" MONDO:0005084 "MESH:D001523" MONDO:0005084 "EFO:0000677" +MONDO:0005084 "ICD10CM:F01-F09" MONDO:0005084 "SCTID:74732009" -MONDO:0005084 "ICD10:F00.F99" MONDO:0005084 "UMLS:CN240636" MONDO:0005084 "DOID:150" -MONDO:0005084 "ICD9:V11.9" MONDO:0005084 "NIFSTD:birnlex_12669" +MONDO:0005084 "ICD9:V11.9" +MONDO:0005084 "ICD10CM:F99-F99" MONDO:0005084 "ICD9:298.8" MONDO:0005084 "SCTID:69322001" MONDO:0005084 "ICD9:290-299.99" +MONDO:0005084 "ICD10CM:F01-F99" HP:0000811 "UMLS:C4025825" MONDO:0020143 "DOID:10742" MONDO:0020143 "ICD9:330.1" @@ -62022,15 +60501,14 @@ MONDO:0010254 "OMIM:300129" MONDO:0001321 "DOID:11595" MONDO:0001321 "ICD9:379.11" MONDO:0001321 "SCTID:111534007" -MONDO:0001321 "ICD10:H15.84" MONDO:0001321 "UMLS:C0155359" MONDO:0001321 "HP:0030854" -MONDO:0019792 "ICD10:G11.8" MONDO:0019792 "UMLS:CN206744" +MONDO:0019792 "ICD10CM:G11.8" MONDO:0019792 "Orphanet:94145" +MONDO:0018595 "ICD10CM:M30.0" MONDO:0018595 "Orphanet:439755" MONDO:0018595 "UMLS:CN242112" -MONDO:0018595 "ICD10:M30.0" MONDO:0011879 "MESH:C564362" MONDO:0011879 "DOID:0111202" MONDO:0011879 "UMLS:C1843315" @@ -62045,6 +60523,7 @@ MONDO:0006486 "OMIM:606660" MONDO:0006486 "NCIT:C7712" MONDO:0006486 "MESH:C536494" MONDO:0006486 "UMLS:C0346388" +MONDO:0006486 "ICD10CM:C69.3" MONDO:0006486 "DOID:6039" MONDO:0006486 "OMIM:606661" MONDO:0006486 "ONCOTREE:UM" @@ -62053,13 +60532,12 @@ MONDO:0006486 "GARD:0008621" MONDO:0006486 "UMLS:C0220633" MONDO:0006486 "EFO:1000616" MONDO:0006486 "OMIM:155720" -MONDO:0006486 "ICD10:C69.3" MONDO:0006486 "MedDRA:10061252" MONDO:0016181 "UMLS:CN200931" MONDO:0016181 "Orphanet:209019" MONDO:0015892 "Orphanet:181393" MONDO:0015892 "UMLS:C0271568" -MONDO:0015892 "ICD10:E34.3" +MONDO:0015892 "ICD10CM:E34.3" MONDO:0015892 "UMLS:CN200504" MONDO:0015892 "NCIT:C129867" MONDO:0015892 "UMLS:C4318479" @@ -62069,7 +60547,6 @@ MONDO:0005271 "DOID:1205" MONDO:0005271 "SCTID:609328004" MONDO:0005271 "UMLS:C1527304" MONDO:0005271 "ICD9:V15.09" -MONDO:0005271 "ICD10:T78.40" MONDO:0005271 "NCIT:C3114" MONDO:0005271 "EFO:0003785" MONDO:0005271 "NCIT:C114476" @@ -62083,38 +60560,38 @@ MONDO:0018677 "OMIM:306955" MONDO:0018677 "OMIMPS:306955" MONDO:0018677 "OMIM:616749" MONDO:0018677 "OMIM:606325" -MONDO:0018677 "ICD10:Q89.3" MONDO:0018677 "OMIM:601086" MONDO:0018677 "OMIM:270100" MONDO:0018677 "DOID:0050545" MONDO:0018677 "NCIT:C117273" +MONDO:0018677 "ICD10CM:Q89.3" MONDO:0018677 "UMLS:C3178805" MONDO:0018677 "OMIM:613751" MONDO:0018677 "OMIM:617205" MONDO:0018677 "Orphanet:450" MONDO:0008788 "SCTID:722005000" MONDO:0008788 "GARD:0010957" -MONDO:0008788 "ICD10:D50.8" MONDO:0008788 "Orphanet:209981" MONDO:0008788 "MESH:C562385" +MONDO:0008788 "ICD10CM:D50.8" MONDO:0008788 "OMIM:206200" MONDO:0009862 "Orphanet:226" MONDO:0009862 "OMIM:261630" MONDO:0009862 "GARD:0004319" MONDO:0009862 "NCIT:C138173" +MONDO:0009862 "ICD10CM:E70.1" MONDO:0009862 "Orphanet:238583" MONDO:0009862 "SCTID:58256000" -MONDO:0009862 "ICD10:E70.1" MONDO:0014081 "OMIM:615206" MONDO:0014081 "UMLS:C3554686" MONDO:0014081 "Orphanet:357237" -MONDO:0014081 "ICD10:D81.2" +MONDO:0014081 "ICD10CM:D81.2" MONDO:0044625 "Orphanet:487814" MONDO:0014417 "SCTID:734021001" MONDO:0014417 "OMIM:615957" MONDO:0014417 "Orphanet:423296" MONDO:0014417 "UMLS:C4518337" -MONDO:0014417 "ICD10:G11.8" +MONDO:0014417 "ICD10CM:G11.8" MONDO:0014417 "EFO:0009056" MONDO:0014417 "UMLS:C4014812" MONDO:0014417 "GARD:0012369" @@ -62135,14 +60612,14 @@ MONDO:0033658 "OMIM:619072" NCBITaxon:2732525 "GC_ID:1" MONDO:0016025 "Orphanet:1942" MONDO:0016025 "ICD9:345.10" +MONDO:0016025 "ICD10CM:G40.4" MONDO:0016025 "GARD:0002169" MONDO:0016025 "OMIM:615369" MONDO:0016025 "SCTID:230421008" MONDO:0016025 "OMIM:616421" -MONDO:0016025 "ICD10:G40.4" MONDO:0017583 "Orphanet:3004" MONDO:0017583 "UMLS:CN203387" -MONDO:0017583 "ICD10:Q87.2" +MONDO:0017583 "ICD10CM:Q87.2" MONDO:0000770 "UMLS:C0577625" MONDO:0000770 "DOID:0060495" MONDO:0000770 "MESH:D000067208" @@ -62157,14 +60634,14 @@ MONDO:0008460 "SCTID:726724005" MONDO:0008460 "UMLS:C1866745" MONDO:0008460 "Orphanet:2063" MONDO:0008460 "OMIM:183300" +MONDO:0008460 "ICD10CM:Q87.8" MONDO:0008460 "MESH:C537318" MONDO:0008460 "GARD:0004963" -MONDO:0008460 "ICD10:Q87.8" MONDO:0019401 "SCTID:717191005" -MONDO:0019401 "ICD10:N04.8" +MONDO:0019401 "ICD10CM:N04.1" +MONDO:0019401 "ICD10CM:N04.8" MONDO:0019401 "UMLS:C4274017" -MONDO:0019401 "ICD10:N04.1" -MONDO:0019401 "ICD10:N04.3" +MONDO:0019401 "ICD10CM:N04.3" MONDO:0019401 "OMIM:612551" MONDO:0019401 "Orphanet:84271" MONDO:0012459 "OMIM:610262" @@ -62173,22 +60650,21 @@ MONDO:0005778 "DOID:3332" MONDO:0005778 "MESH:D006188" MONDO:0005778 "UMLS:C0018477" MONDO:0005778 "EFO:0007293" +MONDO:0017466 "ICD10CM:Q74.0" MONDO:0017466 "Orphanet:295026" -MONDO:0017466 "ICD10:Q74.0" MONDO:0006720 "MESH:D018297" MONDO:0006720 "EFO:1000889" MONDO:0013026 "Orphanet:98959" +MONDO:0013026 "ICD10CM:H18.5" MONDO:0013026 "OMIM:612867" MONDO:0013026 "UMLS:C2748503" MONDO:0013026 "DOID:0060454" MONDO:0013026 "SCTID:723582004" MONDO:0013026 "MESH:C567547" -MONDO:0013026 "ICD10:H18.5" MONDO:0012646 "MESH:C566976" MONDO:0012646 "UMLS:C1969811" MONDO:0012646 "OMIM:611276" MONDO:0000991 "UMLS:C0155702" -MONDO:0000991 "ICD10:I44.60" MONDO:0000991 "SCTID:63467002" MONDO:0000991 "SCTID:4973001" MONDO:0000991 "ICD9:426.2" @@ -62219,9 +60695,9 @@ MONDO:0003531 "DOID:5591" MONDO:0003531 "SCTID:254709009" MONDO:0003531 "NCIT:C27254" MONDO:0011244 "MESH:C536026" -MONDO:0011244 "ICD10:Q87.3" MONDO:0011244 "ICD9:759.89" MONDO:0011244 "SCTID:73284007" +MONDO:0011244 "ICD10CM:Q87.3" MONDO:0011244 "UMLS:C0265211" MONDO:0011244 "DOID:0050858" MONDO:0011244 "GARD:0006985" @@ -62236,14 +60712,14 @@ MONDO:0019395 "Orphanet:84085" MONDO:0019395 "SCTID:429233001" MONDO:0019395 "ICD9:596.59" MONDO:0019395 "UMLS:CN206094" -MONDO:0019395 "ICD10:N32.8" +MONDO:0019395 "ICD10CM:N32.8" HP:0011013 "UMLS:C4023599" NCBITaxon:1643685 "PMID:23908650" NCBITaxon:1643685 "GC_ID:11" MONDO:0019224 "Orphanet:79175" -MONDO:0019224 "ICD10:E72.8" +MONDO:0019224 "ICD10CM:E72.8" MONDO:0019224 "UMLS:CN227591" -MONDO:0018198 "ICD10:G40.4" +MONDO:0018198 "ICD10CM:G40.4" MONDO:0018198 "SCTID:766044005" MONDO:0018198 "Orphanet:363549" NCBITaxon:773 "PMID:11837299" @@ -62262,14 +60738,14 @@ MONDO:0006265 "DOID:7144" MONDO:0006265 "NCIT:C6025" MONDO:0006265 "UMLS:C1334378" MONDO:0006265 "EFO:1000320" +MONDO:0007476 "ICD10CM:M72.0" MONDO:0007476 "SCTID:274142002" MONDO:0007476 "GARD:0012165" MONDO:0007476 "Orphanet:79142" -MONDO:0007476 "ICD10:M72.0" MONDO:0007476 "OMIM:126900" MONDO:0015695 "OMIM:612782" MONDO:0015695 "SCTID:717811007" -MONDO:0015695 "ICD10:D81.8" +MONDO:0015695 "ICD10CM:D81.8" MONDO:0015695 "OMIM:612783" MONDO:0015695 "Orphanet:169090" MONDO:0030876 "OMIM:619142" @@ -62279,7 +60755,7 @@ MONDO:0014691 "UMLS:C4225282" MONDO:0014691 "Orphanet:648" MONDO:0018269 "GARD:0009282" MONDO:0018269 "Orphanet:370131" -MONDO:0018269 "ICD10:D69.1" +MONDO:0018269 "ICD10CM:D69.1" MONDO:0018269 "UMLS:C2931293" MONDO:0018269 "MESH:C536702" MONDO:0018269 "SCTID:718553004" @@ -62289,7 +60765,7 @@ MONDO:0017015 "UMLS:CN202326" MONDO:0004136 "UMLS:C1518713" MONDO:0004136 "DOID:7191" MONDO:0004136 "NCIT:C40075" -MONDO:0015703 "ICD10:D81.2" +MONDO:0015703 "ICD10CM:D81.2" MONDO:0015703 "OMIM:615615" MONDO:0015703 "Orphanet:169160" MONDO:0015703 "OMIM:615617" @@ -62307,13 +60783,13 @@ MONDO:0009712 "NCIT:C150608" MONDO:0009712 "OMIM:255320" MONDO:0009712 "GARD:0010316" MONDO:0009712 "Orphanet:598" -MONDO:0009712 "ICD10:G71.2" +MONDO:0009712 "ICD10CM:G71.2" MONDO:0009712 "UMLS:C1850674" MONDO:0009712 "Orphanet:98905" -MONDO:0019653 "ICD10:N04.0" +MONDO:0019653 "ICD10CM:N04.0" MONDO:0019653 "Orphanet:93216" MONDO:0019653 "UMLS:CN206526" -MONDO:0014419 "ICD10:G11.1" +MONDO:0014419 "ICD10CM:G11.1" MONDO:0014419 "Orphanet:370022" MONDO:0014419 "OMIM:615960" MONDO:0014419 "UMLS:C4014821" @@ -62345,11 +60821,9 @@ MONDO:0006523 "EFO:1000664" MONDO:0006523 "CSP:4008-0032" MONDO:0006523 "NCIT:C84532" MONDO:0001985 "SCTID:776009" -MONDO:0001985 "ICD10:H34.21" MONDO:0001985 "UMLS:C0154839" MONDO:0001985 "ICD9:362.33" MONDO:0001985 "DOID:14522" -MONDO:0001985 "ICD10:H34.219" MONDO:0001985 "NCIT:C35192" MONDO:0008953 "UMLS:C0043459" MONDO:0008953 "OMIM:214100" @@ -62358,16 +60832,14 @@ MONDO:0008953 "DOID:0080476" NCBITaxon:1489388 "GC_ID:1" MONDO:0001165 "MESH:D014060" MONDO:0001165 "UMLS:C0040409" -MONDO:0001165 "ICD10:K14" MONDO:0001165 "SCTID:69244009" MONDO:0001165 "DOID:10944" MONDO:0001165 "ICD9:529.8" MONDO:0001165 "ICD9:529.9" -MONDO:0001165 "ICD10:K14.9" MONDO:0007068 "OMIM:103050" -MONDO:0007068 "ICD10:E79.8" MONDO:0007068 "DOID:0050762" MONDO:0007068 "Orphanet:46" +MONDO:0007068 "ICD10CM:E79.8" MONDO:0007068 "UMLS:C0268126" MONDO:0007068 "GARD:0000550" MONDO:0007068 "ICD9:277.2" @@ -62385,27 +60857,27 @@ MONDO:0012238 "OMIM:609283" MONDO:0012238 "UMLS:C1836460" MONDO:0010077 "OMIM:271665" MONDO:0010077 "GARD:0010616" -MONDO:0010077 "ICD10:Q77.7" MONDO:0010077 "Orphanet:93358" MONDO:0010077 "UMLS:C1849011" +MONDO:0010077 "ICD10CM:Q77.7" MONDO:0010077 "MESH:C564794" MONDO:0015697 "Orphanet:169110" MONDO:0015697 "UMLS:C0398692" MONDO:0015697 "ICD9:279.03" -MONDO:0015697 "ICD10:D80.8" +MONDO:0015697 "ICD10CM:D80.8" MONDO:0015697 "SCTID:234539005" MONDO:0015873 "NCIT:C3301" MONDO:0015873 "GARD:0007303" +MONDO:0015873 "ICD10CM:C50.0" MONDO:0015873 "SCTID:403946000" -MONDO:0015873 "ICD10:C50.0" MONDO:0015873 "MedDRA:10033367" MONDO:0015873 "ONCOTREE:PD" MONDO:0015873 "Orphanet:180275" MONDO:0015873 "UMLS:C1704323" +MONDO:0008809 "ICD10CM:Q87.8" MONDO:0008809 "OMIM:207740" MONDO:0008809 "GARD:0002589" MONDO:0008809 "Orphanet:2926" -MONDO:0008809 "ICD10:Q87.8" MONDO:0008809 "UMLS:C2930955" MONDO:0008809 "MESH:C535624" MONDO:0002567 "UMLS:C0040580" @@ -62413,17 +60885,16 @@ MONDO:0002567 "NCIT:C35079" MONDO:0002567 "DOID:3225" MONDO:0002567 "MESH:D014133" MONDO:0002567 "SCTID:47125007" -MONDO:0002567 "ICD10:S12.8" HP:0000090 "SNOMEDCT_US:204958008" HP:0000090 "UMLS:C0687120" MONDO:0017876 "UMLS:C0042470" MONDO:0017876 "DOID:0050196" MONDO:0017876 "SCTID:359673001" -MONDO:0017876 "ICD10:A96.8" +MONDO:0017876 "ICD10CM:A96.8" MONDO:0017876 "Orphanet:319234" +MONDO:0012648 "ICD10CM:E71.1" MONDO:0012648 "OMIM:611283" MONDO:0012648 "NCIT:C129975" -MONDO:0012648 "ICD10:E71.1" MONDO:0012648 "MESH:C535541" MONDO:0012648 "GARD:0010223" MONDO:0012648 "Orphanet:79159" @@ -62431,7 +60902,6 @@ MONDO:0012648 "UMLS:C1969809" MONDO:0001352 "UMLS:C0346867" MONDO:0001352 "DOID:11748" MONDO:0001352 "SCTID:188204000" -MONDO:0001352 "ICD10:C57.2" MONDO:0001352 "ICD9:183.5" MONDO:0018822 "Orphanet:480898" MONDO:0018822 "UMLS:CN776946" @@ -62439,7 +60909,6 @@ MONDO:0005943 "UMLS:C0162631" MONDO:0005943 "EFO:0007468" MONDO:0005943 "GARD:0008203" MONDO:0005943 "MESH:D017196" -MONDO:0013679 "ICD10:M85.2" MONDO:0013679 "OMIM:614305" MONDO:0013679 "DOID:0060757" MONDO:0013679 "UMLS:C3280402" @@ -62448,32 +60917,30 @@ MONDO:0012811 "Orphanet:231160" MONDO:0012811 "OMIM:612162" MONDO:0012811 "MESH:C567405" MONDO:0012811 "UMLS:C2677336" +MONDO:0002754 "ICD10CM:C90.2" MONDO:0002754 "NCIT:C4002" MONDO:0002754 "ONCOTREE:EP" MONDO:0002754 "DOID:3720" MONDO:0002754 "UMLS:C0278619" -MONDO:0002754 "ICD10:C90.20" MONDO:0002754 "ICD9:203.80" MONDO:0002754 "ICDO:9734/3" MONDO:0002754 "SCTID:188718006" -MONDO:0002754 "ICD10:C90.2" MONDO:0018048 "UMLS:C0272285" +MONDO:0018048 "ICD10CM:D69.5" MONDO:0018048 "GARD:0002650" MONDO:0018048 "HP:0011874" MONDO:0018048 "MedDRA:10062506" -MONDO:0018048 "ICD10:D69.5" MONDO:0018048 "SCTID:73397007" MONDO:0018048 "ICD9:289.84" MONDO:0018048 "Orphanet:3325" MONDO:0004541 "DOID:8358" MONDO:0004541 "UMLS:C1515293" MONDO:0004541 "NCIT:C40958" +MONDO:0010467 "ICD10CM:Q99.8" MONDO:0010467 "Orphanet:261483" MONDO:0010467 "OMIM:300869" MONDO:0010467 "UMLS:C3275521" -MONDO:0010467 "ICD10:Q99.8" MONDO:0020532 "Orphanet:99903" -MONDO:0020532 "ICD10:A25.0" MONDO:0020532 "MESH:D011906" MONDO:0020532 "SCTID:19044004" MONDO:0020532 "DOID:12096" @@ -62485,10 +60952,10 @@ MONDO:0011580 "OMIM:605672" MONDO:0011918 "OMIM:607834" MONDO:0010703 "UMLS:C0268542" MONDO:0010703 "SCTID:80908008" +MONDO:0010703 "ICD10CM:E72.4" MONDO:0010703 "GARD:0008391" MONDO:0010703 "EFO:0007409" MONDO:0010703 "MESH:D020163" -MONDO:0010703 "ICD10:E72.4" MONDO:0010703 "Orphanet:664" MONDO:0010703 "DOID:9271" MONDO:0010703 "OMIM:311250" @@ -62502,7 +60969,6 @@ MONDO:0000796 "DOID:0060521" NCBITaxon:474019 "GC_ID:1" MONDO:0011519 "UMLS:C1854594" MONDO:0011519 "OMIM:605192" -MONDO:0011519 "ICD10:H90.3" MONDO:0011519 "DOID:0110553" MONDO:0011519 "MESH:C565357" MONDO:0011519 "GARD:0001708" @@ -62513,8 +60979,8 @@ MONDO:0016923 "Orphanet:262201" HP:0001387 "SNOMEDCT_US:84445001" HP:0001387 "UMLS:C0162298" MONDO:0014294 "Orphanet:261183" -MONDO:0014294 "ICD10:Q93.5" MONDO:0014294 "GARD:0010525" +MONDO:0014294 "ICD10CM:Q93.5" MONDO:0014294 "OMIM:615656" MONDO:0014294 "UMLS:C3180937" MONDO:0014294 "DOID:0060393" @@ -62524,7 +60990,7 @@ MONDO:0012982 "UMLS:C2675211" MONDO:0012982 "MESH:C567207" MONDO:0012982 "OMIM:612656" MONDO:0012982 "Orphanet:209967" -MONDO:0012982 "ICD10:G11.8" +MONDO:0012982 "ICD10CM:G11.8" MONDO:0002975 "SCTID:188050009" MONDO:0002975 "DOID:4364" MONDO:0002975 "NCIT:C8410" @@ -62536,19 +61002,19 @@ HP:0010307 "SNOMEDCT_US:248573009" HP:0010307 "UMLS:C0038450" HP:0010307 "MSH:D012135" HP:0010307 "SNOMEDCT_US:70407001" +MONDO:0016277 "ICD10CM:C53.1" MONDO:0016277 "Orphanet:213782" -MONDO:0016277 "ICD10:C53.1" +MONDO:0016277 "ICD10CM:C53.8" MONDO:0016277 "UMLS:CN201067" -MONDO:0016277 "ICD10:C53.0" -MONDO:0016277 "ICD10:C53.8" +MONDO:0016277 "ICD10CM:C53.0" MONDO:0014965 "GARD:0013220" MONDO:0014965 "UMLS:C4310670" MONDO:0014965 "OMIM:617194" MONDO:0004344 "UMLS:C0279983" MONDO:0004344 "NCIT:C8090" MONDO:0004344 "DOID:7731" +MONDO:0013228 "ICD10CM:Q77.7" MONDO:0013228 "Orphanet:228387" -MONDO:0013228 "ICD10:Q77.7" MONDO:0013228 "OMIM:613330" MONDO:0013228 "UMLS:C2750066" MONDO:0013228 "MESH:C567639" @@ -62559,8 +61025,8 @@ MONDO:0003147 "EFO:1001188" MONDO:0015305 "SCTID:237117005" MONDO:0015305 "Orphanet:137820" MONDO:0015305 "UMLS:C0404545" +MONDO:0017505 "ICD10CM:Q72.3" MONDO:0017505 "Orphanet:295107" -MONDO:0017505 "ICD10:Q72.3" MONDO:0100435 "DOID:0090005" MONDO:0100435 "OMIM:255800" MONDO:0003557 "DOID:5632" @@ -62585,12 +61051,12 @@ MONDO:0008556 "OMIM:188020" MONDO:0008556 "MESH:C536899" MONDO:0008556 "SCTID:48788004" MONDO:0018621 "Orphanet:443159" -MONDO:0018621 "ICD10:C83.0" +MONDO:0018621 "ICD10CM:C83.0" MONDO:0009502 "UMLS:C1855565" MONDO:0009502 "Orphanet:79244" MONDO:0009502 "OMIM:245348" MONDO:0009502 "Orphanet:765" -MONDO:0009502 "ICD10:E74.4" +MONDO:0009502 "ICD10CM:E74.4" MONDO:0009502 "MESH:C565448" MONDO:0014669 "UMLS:C4049066" MONDO:0014669 "UMLS:CN231743" @@ -62609,35 +61075,35 @@ HP:0000820 "SNOMEDCT_US:14304000" HP:0000820 "MSH:D013959" MONDO:0600029 "NCIT:C91762" MONDO:0600029 "UMLS:C0085581" -MONDO:0600029 "ICD10CM:J98.4" MONDO:0600029 "SCTID:36485005" -MONDO:0017726 "ICD10:E75.0" +MONDO:0017726 "ICD10CM:E75.0" MONDO:0017726 "UMLS:C1848914" MONDO:0017726 "Orphanet:309192" +MONDO:0020135 "ICD10CM:Q04.3" MONDO:0020135 "OMIMPS:607596" MONDO:0020135 "MESH:C580383" -MONDO:0020135 "ICD10:Q04.3" MONDO:0020135 "DOID:0060264" MONDO:0020135 "Orphanet:98523" MONDO:0020135 "GARD:0010977" MONDO:0020135 "UMLS:CN924922" MONDO:0020135 "SCTID:45163000" +MONDO:0006816 "ICD10CM:M00-M02" MONDO:0006816 "ICD9:719.88" MONDO:0006816 "ICD9:716.98" MONDO:0006816 "ICD9:719.90" MONDO:0006816 "ICD9:716.80" MONDO:0006816 "ICD9:719.9" +MONDO:0006816 "ICD10CM:M20-M25" MONDO:0006816 "ICD9:711" -MONDO:0006816 "ICD10:M19.90" -MONDO:0006816 "ICD10:M12.9" +MONDO:0006816 "ICD10CM:M05-M14" +MONDO:0006816 "ICD10CM:M26-M27" MONDO:0006816 "UMLS:C0022408" MONDO:0006816 "ICD9:719.89" MONDO:0006816 "EFO:1000999" MONDO:0006816 "ICD9:719.80" -MONDO:0006816 "ICD10:M25.9" MONDO:0006816 "ICD9:716.90" MONDO:0006816 "SCTID:396275006" -MONDO:0006816 "ICD10:M00-M02" +MONDO:0006816 "ICD10CM:M15-M19" MONDO:0006816 "MedDRA:10003285" MONDO:0006816 "ICD9:719.98" MONDO:0006816 "SCTID:399269003" @@ -62646,30 +61112,26 @@ MONDO:0006816 "MESH:D007592" MONDO:0006816 "NCIT:C35760" MONDO:0006816 "DOID:381" MONDO:0006816 "ICD9:716.9" -MONDO:0006816 "ICD10:M15.M19" +MONDO:0015734 "ICD10CM:Q43.4" MONDO:0015734 "Orphanet:171220" -MONDO:0015734 "ICD10:Q43.4" MONDO:0015734 "SCTID:725910009" MONDO:0005722 "UMLS:C0010380" MONDO:0005722 "NCIT:C26735" MONDO:0005722 "EFO:0007227" -MONDO:0005722 "ICD10:J05.0" MONDO:0005722 "MESH:D003440" MONDO:0005722 "SCTID:71186008" MONDO:0005722 "DOID:9395" MONDO:0005722 "ICD9:464.4" -MONDO:0001658 "ICD10:E04.9" MONDO:0001658 "NCIT:C35271" MONDO:0001658 "DOID:13195" MONDO:0001658 "UMLS:C0221777" -MONDO:0001658 "ICD10:E04.0" MONDO:0002604 "DOID:3316" MONDO:0002604 "NCIT:C6528" MONDO:0002604 "UMLS:C1335392" +MONDO:0018330 "ICD10CM:C18.1" MONDO:0018330 "Orphanet:391723" MONDO:0018330 "UMLS:C1706832" MONDO:0018330 "NCIT:C43558" -MONDO:0018330 "ICD10:C18.1" MONDO:0018330 "ONCOTREE:MAAP" MONDO:0012813 "MESH:C567403" MONDO:0012813 "DOID:0110378" @@ -62677,22 +61139,21 @@ MONDO:0012813 "OMIM:612165" MONDO:0012813 "UMLS:C2677325" MONDO:0012813 "GARD:0010378" MONDO:0012813 "Orphanet:791" -MONDO:0012813 "ICD10:H35.5" MONDO:0022602 "GARD:0000974" -MONDO:0017913 "ICD10:G11.4" MONDO:0017913 "Orphanet:320335" MONDO:0017913 "UMLS:CN227219" +MONDO:0017913 "ICD10CM:G11.4" MONDO:0007420 "Orphanet:79499" MONDO:0007420 "OMIM:124480" MONDO:0007420 "GARD:0004732" -MONDO:0007420 "ICD10:Q87.8" MONDO:0007420 "UMLS:C2675730" MONDO:0007420 "Orphanet:3231" +MONDO:0007420 "ICD10CM:Q87.8" CL:1000681 "KUPO:0001091" -MONDO:0005804 "ICD10:E22.1" MONDO:0005804 "EFO:0007319" MONDO:0005804 "MESH:D002640" MONDO:0005804 "HP:0000870" +MONDO:0005804 "ICD10CM:E22.1" MONDO:0005804 "UMLS:C0020514" MONDO:0005804 "SCTID:237662005" MONDO:0005804 "NCIT:C113168" @@ -62711,7 +61172,6 @@ MONDO:0013972 "UMLS:C3554105" MONDO:0013972 "Orphanet:2855" MONDO:0011708 "OMIM:606705" MONDO:0011708 "UMLS:C1847626" -MONDO:0011708 "ICD10:H90.3" MONDO:0011708 "DOID:0110563" MONDO:0011708 "MESH:C564675" MONDO:0015392 "ICD9:748.1" @@ -62723,16 +61183,16 @@ MONDO:0017592 "Orphanet:300579" MONDO:0017592 "UMLS:C0854511" MONDO:0017592 "MedDRA:10041932" MONDO:0005076 "ICD9:523.5" -MONDO:0005076 "ICD10:K05.3" MONDO:0005076 "NCIT:C34918" MONDO:0005076 "DOID:9893" +MONDO:0005076 "ICD10CM:K05.4" MONDO:0005076 "UMLS:C0600298" +MONDO:0005076 "ICD10CM:K05.3" MONDO:0005076 "DOID:824" MONDO:0005076 "SCTID:41565005" MONDO:0005076 "MESH:D010518" -MONDO:0005076 "UMLS:C0031099" MONDO:0005076 "EFO:0000649" -MONDO:0005076 "ICD10:K05.4" +MONDO:0005076 "UMLS:C0031099" MONDO:0005076 "OMIM:170650" MONDO:0005076 "OMIM:260950" MONDO:0023147 "GARD:0002309" @@ -62751,22 +61211,22 @@ HP:0003225 "SNOMEDCT_US:4320005" HP:0003225 "SNOMEDCT_US:88776002" HP:0003225 "UMLS:C0015499" MONDO:0013198 "MESH:C567683" -MONDO:0013198 "ICD10:I42.0" MONDO:0013198 "DOID:0110453" MONDO:0013198 "Orphanet:154" MONDO:0013198 "OMIM:613252" +MONDO:0013198 "ICD10CM:I42.0" MONDO:0013198 "UMLS:C2750466" HP:0003401 "UMLS:C0030554" HP:0003401 "SNOMEDCT_US:91019004" HP:0003401 "MSH:D010292" NCBITaxon:51027 "GC_ID:1" MONDO:0014144 "OMIM:615356" +MONDO:0014144 "ICD10CM:G71.0" MONDO:0014144 "GARD:0012543" MONDO:0014144 "UMLS:C3809236" MONDO:0014144 "Orphanet:369847" MONDO:0014144 "Orphanet:369840" MONDO:0014144 "DOID:0110287" -MONDO:0014144 "ICD10:G71.0" MONDO:0010632 "UMLS:C3463992" MONDO:0010632 "DOID:0080468" MONDO:0010632 "OMIM:308350" @@ -62786,9 +61246,9 @@ MONDO:0015001 "OMIM:617280" MONDO:0015001 "UMLS:C4310636" MONDO:0011049 "OMIM:601353" MONDO:0011049 "MESH:C537933" -MONDO:0011049 "ICD10:Q87.8" MONDO:0011049 "GARD:0000958" MONDO:0011049 "Orphanet:1272" +MONDO:0011049 "ICD10CM:Q87.8" MONDO:0011049 "SCTID:720955004" MONDO:0011049 "UMLS:C0795941" MONDO:0009893 "OMIM:263450" @@ -62802,18 +61262,16 @@ MONDO:0009034 "OMIM:218350" MONDO:0009034 "Orphanet:1516" MONDO:0009034 "MESH:C536455" MONDO:0009034 "GARD:0001575" -MONDO:0009034 "ICD10:Q87.0" +MONDO:0009034 "ICD10CM:Q87.0" MONDO:0009034 "UMLS:C1857511" +MONDO:0006525 "ICD10CM:L23" MONDO:0006525 "ICD9:692.9" MONDO:0006525 "MESH:D017449" -MONDO:0006525 "ICD10:L23" -MONDO:0006525 "ICD10:L23.9" MONDO:0006525 "SCTID:238575004" MONDO:0006525 "NCIT:C26998" MONDO:0006525 "UMLS:C0162820" MONDO:0006525 "EFO:1000668" MONDO:0006525 "DOID:3042" -MONDO:0010170 "ICD10:H35.5" MONDO:0010170 "DOID:0110841" MONDO:0010170 "Orphanet:231183" MONDO:0010170 "Orphanet:886" @@ -62826,8 +61284,8 @@ MONDO:0009901 "GARD:0004436" MONDO:0009901 "UMLS:C1849718" MONDO:0009901 "SCTID:722376008" MONDO:0009901 "MESH:C564874" -MONDO:0009901 "ICD10:Q87.2" MONDO:0009901 "Orphanet:1234" +MONDO:0009901 "ICD10CM:Q87.2" MONDO:0009901 "OMIM:263650" MONDO:0016442 "ICD9:215.9" MONDO:0016442 "Orphanet:228254" @@ -62839,7 +61297,6 @@ NCBITaxon:782 "PMID:15879256" NCBITaxon:782 "GC_ID:11" MONDO:0011572 "OMIM:605598" MONDO:0011572 "UMLS:C1854125" -MONDO:0011572 "ICD10:E10" MONDO:0011572 "DOID:0110755" MONDO:0011572 "MESH:C565315" MONDO:0002207 "DOID:2097" @@ -62858,29 +61315,27 @@ MONDO:0006712 "MedDRA:10011007" MONDO:0006712 "ICD9:371.20" MONDO:0006712 "DOID:11030" MONDO:0006712 "ICD9:371.2" -MONDO:0006712 "ICD10:H18.20" MONDO:0013751 "Orphanet:90348" MONDO:0013751 "OMIM:614434" MONDO:0013751 "UMLS:C3280794" MONDO:0019068 "SCTID:725592009" -MONDO:0019068 "ICD10:P96.0" MONDO:0019068 "UMLS:C4511239" MONDO:0019068 "Orphanet:69063" +MONDO:0019068 "ICD10CM:P96.0" MONDO:0002419 "ICD9:307.21" MONDO:0002419 "SCTID:56573006" MONDO:0002419 "MESH:D013981" MONDO:0002419 "NCIT:C116767" -MONDO:0002419 "ICD10:F95.0" +MONDO:0002419 "ICD10CM:F95.0" MONDO:0002419 "DOID:2768" MONDO:0014834 "UMLS:C4310792" MONDO:0014834 "OMIM:616921" -MONDO:0015171 "ICD10:P78.3" MONDO:0015171 "Orphanet:103910" +MONDO:0015171 "ICD10CM:P78.3" MONDO:0015171 "SCTID:725591002" MONDO:0022417 "MESH:C537050" MONDO:0019458 "MESH:D015471" MONDO:0019458 "UMLS:C0221292" -MONDO:0019458 "ICD10:C94.7" MONDO:0019458 "EFO:0003029" MONDO:0019458 "SCTID:307592006" MONDO:0019458 "ONCOTREE:ABL" @@ -62906,10 +61361,10 @@ MONDO:0006328 "NCIT:C54220" MONDO:0006328 "Wikipedia:Odontogenic_cyst" MONDO:0006328 "SCTID:235110008" MONDO:0009138 "Orphanet:1782" -MONDO:0009138 "ICD10:Q78.8" MONDO:0009138 "UMLS:C0432262" MONDO:0009138 "SCTID:254123002" MONDO:0009138 "MESH:C562973" +MONDO:0009138 "ICD10CM:Q78.8" MONDO:0009138 "ICD9:756.9" MONDO:0009138 "OMIM:224300" MONDO:0009138 "GARD:0002012" @@ -62919,37 +61374,34 @@ NCBITaxon:10244 "GC_ID:1" MONDO:0002606 "UMLS:C1333426" MONDO:0002606 "DOID:3318" MONDO:0002606 "NCIT:C38151" -MONDO:0013387 "ICD10:G40.4" MONDO:0013387 "Orphanet:439218" +MONDO:0013387 "ICD10CM:G40.4" MONDO:0013387 "GARD:0013060" MONDO:0013387 "UMLS:C3150986" MONDO:0013387 "DOID:0080462" MONDO:0013387 "OMIM:613720" +MONDO:0017211 "ICD10CM:H44.1" MONDO:0017211 "Orphanet:279925" -MONDO:0017211 "ICD10:H44.1" -MONDO:0005806 "NCIT:C7190" -MONDO:0005806 "ICD9:148" +MONDO:0005806 "EFO:0007321" MONDO:0005806 "ICD9:148.3" -MONDO:0005806 "ICD10:C13.2" MONDO:0005806 "MESH:D007012" -MONDO:0005806 "DOID:8533" MONDO:0005806 "GARD:0009334" -MONDO:0005806 "ICD10:C13" -MONDO:0005806 "SCTID:303012000" -MONDO:0005806 "EFO:0007321" +MONDO:0005806 "NCIT:C7190" +MONDO:0005806 "DOID:8533" MONDO:0005806 "ICD9:148.9" -MONDO:0005806 "ICD10:C13.9" +MONDO:0005806 "ICD9:148" +MONDO:0005806 "ICD10CM:C13" +MONDO:0005806 "SCTID:303012000" MONDO:0014333 "OMIM:615752" MONDO:0014333 "Orphanet:268940" MONDO:0014333 "Orphanet:98889" MONDO:0014333 "UMLS:C3810405" MONDO:0004637 "SCTID:187708004" MONDO:0004637 "ICD9:148.2" -MONDO:0004637 "ICD10:C13.1" +MONDO:0004637 "ICD10CM:C13.1" MONDO:0004637 "DOID:8663" MONDO:0000740 "UMLS:C0149825" MONDO:0000740 "SCTID:111591002" -MONDO:0000740 "ICD10:J35.2" MONDO:0000740 "ICD9:474.12" MONDO:0000740 "MedDRA:10001229" MONDO:0000740 "DOID:0060311" @@ -62958,7 +61410,6 @@ MONDO:0007769 "MESH:C562400" MONDO:0007769 "OMIM:145100" MONDO:0007769 "ICD9:374.52" MONDO:0007769 "EFO:1000711" -MONDO:0007769 "ICD10:H02.71" MONDO:0007769 "SCTID:41115008" MONDO:0007769 "DOID:10122" HP:0001331 "SNOMEDCT_US:253143001" @@ -62971,7 +61422,7 @@ MONDO:0000648 "ICD9:225.8" MONDO:0000648 "ICD9:225.9" MONDO:0000648 "DOID:0060115" MONDO:0016316 "Orphanet:217093" -MONDO:0016316 "ICD10:E76.1" +MONDO:0016316 "ICD10CM:E76.1" MONDO:0016316 "UMLS:CN201132" MONDO:0015253 "OMIM:612561" MONDO:0015253 "GARD:0006274" @@ -62980,7 +61431,6 @@ MONDO:0015253 "OMIMPS:105650" MONDO:0015253 "OMIM:300946" MONDO:0015253 "OMIM:612527" MONDO:0015253 "OMIM:613309" -MONDO:0015253 "ICD10:D61.01" MONDO:0015253 "OMIM:606129" MONDO:0015253 "SCTID:88854002" MONDO:0015253 "OMIM:105650" @@ -62990,8 +61440,8 @@ MONDO:0015253 "UMLS:C0265265" MONDO:0015253 "OMIM:606164" MONDO:0015253 "OMIM:610629" MONDO:0015253 "OMIM:613308" +MONDO:0015253 "ICD10CM:D61.0" MONDO:0015253 "OMIM:614900" -MONDO:0015253 "ICD10:D61.0" MONDO:0015253 "OMIM:612528" MONDO:0015253 "DOID:1339" MONDO:0015253 "MESH:D029503" @@ -63003,7 +61453,6 @@ MONDO:0015253 "OMIM:615909" MONDO:0014216 "OMIM:615505" MONDO:0014216 "DOID:0110607" MONDO:0014216 "UMLS:C3809706" -MONDO:0014216 "ICD10:Q34.8" MONDO:0000094 "HP:0004444" HP:0000593 "SNOMEDCT_US:204142009" HP:0000593 "UMLS:C3152182" @@ -63012,28 +61461,27 @@ MONDO:0004167 "SCTID:254630009" MONDO:0004167 "UMLS:C0345959" MONDO:0018994 "ICD9:356.9" MONDO:0018994 "Orphanet:64747" -MONDO:0018994 "ICD10:G60.0" MONDO:0018994 "UMLS:CN205436" MONDO:0018994 "SCTID:230552007" MONDO:0018994 "GARD:0012444" +MONDO:0018994 "ICD10CM:G60.0" MONDO:0018994 "DOID:0050542" MONDO:0008758 "GARD:0005783" MONDO:0008758 "NCIT:C35257" MONDO:0008758 "SCTID:20415001" -MONDO:0008758 "ICD10:G31.8" MONDO:0008758 "ICD9:330.8" -MONDO:0008758 "ICD10:G31.81" +MONDO:0008758 "ICD10CM:G31.8" MONDO:0008758 "OMIM:203700" MONDO:0008758 "DOID:1442" MONDO:0008758 "MedDRA:10062943" MONDO:0008758 "UMLS:C0205710" MONDO:0008758 "Orphanet:726" MONDO:0008758 "DOID:0080122" +MONDO:0009704 "ICD10CM:E71.3" MONDO:0009704 "OMIM:255110" MONDO:0009704 "Orphanet:157" MONDO:0009704 "UMLS:C1833508" MONDO:0009704 "MESH:C563461" -MONDO:0009704 "ICD10:E71.3" MONDO:0009704 "Orphanet:228302" MONDO:0020848 "OMIM:618107" NCBITaxon:561 "PMID:19700542" @@ -63045,7 +61493,7 @@ MONDO:0016631 "Orphanet:248347" MONDO:0018831 "UMLS:CN776824" MONDO:0018831 "Orphanet:482072" MONDO:0009191 "MedDRA:10062600" -MONDO:0009191 "ICD10:Q87.5" +MONDO:0009191 "ICD10CM:Q87.5" MONDO:0009191 "Orphanet:1824" MONDO:0009191 "MESH:C537038" MONDO:0009191 "GARD:0000264" @@ -63058,7 +61506,6 @@ MONDO:0024757 "UMLS:C0497243" MONDO:0012434 "UMLS:C1857777" MONDO:0012434 "MESH:C565707" MONDO:0012434 "Orphanet:217656" -MONDO:0012434 "ICD10:I42.8" MONDO:0012434 "OMIM:610193" MONDO:0012434 "DOID:0110081" MONDO:0032738 "OMIM:618419" @@ -63071,15 +61518,14 @@ MONDO:0006682 "SCTID:72893007" MONDO:0006682 "GARD:0004228" MONDO:0006682 "EFO:1000843" MONDO:0006682 "NCIT:C84600" -MONDO:0006682 "ICD10:G54.5" MONDO:0006682 "MedDRA:10073002" MONDO:0006682 "ICD9:723.4" MONDO:0006682 "DOID:3689" MONDO:0006682 "SCTID:26609002" NCBITaxon:42408 "GC_ID:1" MONDO:0011214 "Orphanet:172" +MONDO:0011214 "ICD10CM:K76.8" MONDO:0011214 "MESH:C535935" -MONDO:0011214 "ICD10:K76.8" MONDO:0011214 "DOID:0070223" MONDO:0011214 "Orphanet:79305" MONDO:0011214 "GARD:0001289" @@ -63091,13 +61537,12 @@ MONDO:0014437 "EFO:0009027" MONDO:0014437 "OMIM:615986" MONDO:0014437 "OMIM:209900" MONDO:0014437 "UMLS:C1859567" -MONDO:0014437 "ICD10:Q87.89" MONDO:0014437 "MESH:C565918" +MONDO:0008296 "ICD10CM:E80.1" MONDO:0008296 "OMIM:176100" MONDO:0008296 "Orphanet:443062" MONDO:0008296 "Orphanet:101330" MONDO:0008296 "SCTID:59229005" -MONDO:0008296 "ICD10:E80.1" MONDO:0008296 "UMLS:C0162569" MONDO:0008296 "UMLS:C0268323" MONDO:0008296 "Orphanet:95159" @@ -63106,17 +61551,17 @@ HP:0001760 "UMLS:C0016506" HP:0001760 "MSH:D005530" MONDO:0001157 "ICD9:301.6" MONDO:0001157 "DOID:10931" -MONDO:0001157 "ICD10:F60.7" +MONDO:0001157 "ICD10CM:F60.7" MONDO:0001157 "MESH:D003859" MONDO:0001157 "SCTID:84466009" MONDO:0001157 "NCIT:C92637" +MONDO:0018361 "ICD10CM:P83.8" MONDO:0018361 "Orphanet:398127" -MONDO:0018361 "ICD10:P83.8" MONDO:0021155 "OMIM:304020" CL:1001428 "KUPO:0001121" MONDO:0007099 "GARD:0008282" +MONDO:0007099 "ICD10CM:E85.0" MONDO:0007099 "DOID:0050636" -MONDO:0007099 "ICD10:E85.0" MONDO:0007099 "ICD9:277.39" MONDO:0007099 "UMLS:C0268389" MONDO:0007099 "Orphanet:85450" @@ -63124,10 +61569,10 @@ MONDO:0007099 "MESH:C538249" MONDO:0007099 "OMIM:105200" MONDO:0007099 "SCTID:66451004" MONDO:0010476 "UMLS:CN168656" -MONDO:0010476 "ICD10:G23.0" -MONDO:0010476 "OMIM:300894" MONDO:0010476 "GARD:0012570" +MONDO:0010476 "OMIM:300894" MONDO:0010476 "DOID:0110739" +MONDO:0010476 "ICD10CM:G23.0" MONDO:0010476 "SCTID:732959007" MONDO:0010476 "Orphanet:329284" MONDO:0010476 "UMLS:C3550973" @@ -63143,9 +61588,9 @@ MONDO:0004533 "UMLS:C1335382" MONDO:0022975 "GARD:0001843" MONDO:0022606 "GARD:0001001" MONDO:0020541 "SCTID:254861002" -MONDO:0020541 "ICD10:C56" MONDO:0020541 "NCIT:C8403" MONDO:0020541 "GARD:0008642" +MONDO:0020541 "ICD10CM:C56" MONDO:0020541 "UMLS:C0346175" MONDO:0020541 "MESH:D006106" MONDO:0020541 "UMLS:C1370419" @@ -63175,13 +61620,12 @@ MONDO:0012655 "DOID:0111327" MONDO:0012655 "UMLS:C1969656" MONDO:0012655 "OMIM:611364" MONDO:0012655 "Orphanet:307" -MONDO:0002209 "ICD10:M77.30" MONDO:0002209 "UMLS:C0158322" +MONDO:0002209 "ICD10CM:M77.3" MONDO:0002209 "DOID:210" MONDO:0002209 "SCTID:55260003" MONDO:0002209 "MESH:D036982" MONDO:0002209 "ICD9:726.73" -MONDO:0002209 "ICD10:M77.3" MONDO:0011401 "UMLS:C1858751" MONDO:0011401 "DOID:0110048" MONDO:0011401 "MESH:C536599" @@ -63189,19 +61633,19 @@ MONDO:0011401 "OMIM:611155" MONDO:0011401 "OMIM:604154" MONDO:0011401 "GARD:0007190" MONDO:0011401 "MESH:C566998" -MONDO:0011401 "ICD10:G30" +MONDO:0011401 "ICD10CM:G30" MONDO:0011401 "UMLS:C1970143" MONDO:0009698 "UMLS:C0751785" MONDO:0009698 "OMIM:254800" MONDO:0009698 "MedDRA:10054895" MONDO:0009698 "GARD:0003876" MONDO:0009698 "SCTID:230423006" +MONDO:0009698 "ICD10CM:G40.3" MONDO:0009698 "MESH:D020194" MONDO:0009698 "OMIM:310370" MONDO:0009698 "DOID:3535" MONDO:0009698 "Orphanet:308" MONDO:0009698 "OMIM:612437" -MONDO:0009698 "ICD10:G40.3" MONDO:0013601 "SCTID:234590006" MONDO:0013601 "OMIM:614164" MONDO:0013601 "UMLS:C0398747" @@ -63220,15 +61664,15 @@ MONDO:0003672 "UMLS:C0264706" MONDO:0003672 "DOID:5847" MONDO:0011080 "UMLS:C1832354" MONDO:0011080 "SCTID:715529009" +MONDO:0011080 "ICD10CM:H74.3" MONDO:0011080 "GARD:0005170" MONDO:0011080 "Orphanet:3235" -MONDO:0011080 "ICD10:H74.3" MONDO:0011080 "OMIM:601449" MONDO:0011080 "MESH:C563316" HP:0000142 "UMLS:C1856023" -MONDO:0006391 "NCIT:C43526" MONDO:0006391 "EFO:1000501" MONDO:0006391 "UMLS:C1709780" +MONDO:0006391 "NCIT:C43526" MONDO:0010663 "Orphanet:93973" MONDO:0010663 "UMLS:CN205653" MONDO:0010663 "OMIM:309580" @@ -63239,23 +61683,22 @@ MONDO:0010663 "Orphanet:73220" MONDO:0010663 "Orphanet:93974" MONDO:0010663 "Orphanet:93970" MONDO:0010663 "GARD:0000081" -MONDO:0005974 "SCTID:187176005" MONDO:0005974 "MedDRA:10042254" -MONDO:0005974 "Orphanet:76" -MONDO:0005974 "ICD10:B78.1" -MONDO:0005974 "UMLS:C0038463" -MONDO:0005974 "EFO:0007501" MONDO:0005974 "ICD9:127.2" -MONDO:0005974 "NCIT:C128398" -MONDO:0005974 "ICD10:B78.0" +MONDO:0005974 "ICD10CM:B78.9" +MONDO:0005974 "ICD10CM:B78.1" MONDO:0005974 "GARD:0008195" -MONDO:0005974 "UMLS:C0348996" MONDO:0005974 "UMLS:C0085810" -MONDO:0005974 "ICD10:B78.7" -MONDO:0005974 "ICD10:B78" -MONDO:0005974 "ICD10:B78.9" -MONDO:0005974 "DOID:10955" +MONDO:0005974 "ICD10CM:B78.0" +MONDO:0005974 "UMLS:C0348996" MONDO:0005974 "MESH:D013322" +MONDO:0005974 "Orphanet:76" +MONDO:0005974 "SCTID:187176005" +MONDO:0005974 "UMLS:C0038463" +MONDO:0005974 "NCIT:C128398" +MONDO:0005974 "ICD10CM:B78.7" +MONDO:0005974 "EFO:0007501" +MONDO:0005974 "DOID:10955" MONDO:0043678 "MESH:D007446" MONDO:0043678 "NCIT:C6827" MONDO:0003930 "DOID:6571" @@ -63281,9 +61724,9 @@ MONDO:0001890 "DOID:14140" MONDO:0019623 "DOID:14735" MONDO:0019623 "NCIT:C84758" MONDO:0019623 "Orphanet:91378" -MONDO:0019623 "ICD10:D84.1" MONDO:0019623 "GARD:0005979" MONDO:0019623 "MedDRA:10019860" +MONDO:0019623 "ICD10CM:D84.1" MONDO:0019623 "OMIM:106100" MONDO:0019623 "UMLS:CN239191" MONDO:0019623 "MESH:D054179" @@ -63298,10 +61741,10 @@ MONDO:0014959 "UMLS:C4310676" MONDO:0014959 "OMIM:617184" MONDO:0014490 "Orphanet:438075" MONDO:0014490 "UMLS:C4015186" +MONDO:0014490 "ICD10CM:E88.8" MONDO:0014490 "OMIM:616095" -MONDO:0014490 "ICD10:E88.8" +MONDO:0018426 "ICD10CM:D12.6" MONDO:0018426 "Orphanet:401911" -MONDO:0018426 "ICD10:D12.6" MONDO:0018426 "UMLS:CN226139" MONDO:0013270 "Orphanet:3095" MONDO:0013270 "UMLS:C3150705" @@ -63317,9 +61760,9 @@ MONDO:0016434 "Orphanet:228218" MONDO:0016434 "UMLS:CN226927" MONDO:0019591 "MedDRA:10033662" MONDO:0019591 "UMLS:C0242343" +MONDO:0019591 "ICD10CM:E23.0" MONDO:0019591 "OMIM:262600" MONDO:0019591 "OMIM:312000" -MONDO:0019591 "ICD10:E23.0" MONDO:0019591 "ICD9:253.2" MONDO:0019591 "DOID:9410" MONDO:0019591 "NCIT:C110940" @@ -63334,11 +61777,10 @@ MONDO:0012037 "MESH:C563929" MONDO:0012037 "Orphanet:88616" MONDO:0012037 "UMLS:C1838023" MONDO:0012037 "OMIM:608443" +MONDO:0013595 "ICD10CM:K76.8" MONDO:0013595 "UMLS:C3279964" MONDO:0013595 "Orphanet:276405" -MONDO:0013595 "ICD10:K76.8" MONDO:0013595 "OMIM:614156" -MONDO:0019810 "ICD10:L51.2" MONDO:0019810 "ICD9:695.15" MONDO:0019810 "OMIM:608579" MONDO:0019810 "SCTID:23067006" @@ -63351,27 +61793,25 @@ MONDO:0019810 "Orphanet:95455" MONDO:0022060 "UMLS:C2931677" MONDO:0022060 "MESH:C537962" MONDO:0022060 "GARD:0001055" -MONDO:0013424 "ICD10:Q93.5" MONDO:0013424 "NCIT:C41377" MONDO:0013424 "OMIM:613792" MONDO:0013424 "Orphanet:1620" +MONDO:0013424 "ICD10CM:Q93.5" MONDO:0013424 "GARD:0003750" MONDO:0013424 "GARD:0000037" MONDO:0013424 "MESH:C536804" MONDO:0013424 "SCTID:763528002" MONDO:0013424 "DOID:0060417" MONDO:0015539 "Orphanet:158022" -MONDO:0015539 "ICD10:D76.3" MONDO:0015539 "SCTID:765141005" +MONDO:0015539 "ICD10CM:D76.3" MONDO:0020144 "Orphanet:98549" MONDO:0010255 "OMIM:300136" MONDO:0010255 "UMLS:C1848042" MONDO:0005219 "NCIT:C3039" -MONDO:0005219 "ICD10:N60" MONDO:0005219 "DOID:10354" MONDO:0005219 "MESH:D005348" MONDO:0005219 "UMLS:C0016034" -MONDO:0005219 "ICD10:N60.1" MONDO:0005219 "EFO:0003014" MONDO:0005219 "ICD9:610.1" HP:0008169 "UMLS:C4024722" @@ -63384,9 +61824,9 @@ HP:0000625 "SNOMEDCT_US:95202004" MONDO:0007043 "DOID:14705" MONDO:0007043 "NCIT:C99100" MONDO:0007043 "Orphanet:710" +MONDO:0007043 "ICD10CM:Q87.0" MONDO:0007043 "GARD:0007380" MONDO:0007043 "MESH:D000168" -MONDO:0007043 "ICD10:Q87.0" MONDO:0007043 "UMLS:C0220658" MONDO:0007043 "SCTID:70410008" MONDO:0007043 "OMIM:101600" @@ -63397,26 +61837,25 @@ CL:1000323 "FMA:263061" MONDO:0021005 "OMIM:305400" MONDO:0021005 "OMIM:100050" MONDO:0021005 "MedDRA:10067148" -MONDO:0021005 "ICD10:Q87.1" +MONDO:0021005 "ICD10CM:Q87.1" MONDO:0014082 "OMIM:615207" +MONDO:0014082 "ICD10CM:D81.8" MONDO:0014082 "UMLS:C3554687" -MONDO:0014082 "ICD10:D81.8" MONDO:0014082 "Orphanet:357329" MONDO:0020331 "ONCOTREE:ISM" MONDO:0020331 "MedDRA:10056452" MONDO:0020331 "NCIT:C9286" MONDO:0020331 "ICDO:9741/1" -MONDO:0020331 "ICD10:D47.0" MONDO:0020331 "UMLS:C0272203" MONDO:0020331 "DOID:4660" MONDO:0020331 "SCTID:70910003" +MONDO:0020331 "ICD10CM:D47.0" MONDO:0020331 "Orphanet:98848" MONDO:0005406 "SCTID:11687002" MONDO:0005406 "NCIT:C34942" MONDO:0005406 "DOID:11714" MONDO:0005406 "UMLS:C0085207" MONDO:0005406 "MESH:D016640" -MONDO:0005406 "ICD10:O24.4" MONDO:0005406 "EFO:0004593" NCBITaxon:426438 "GC_ID:1" HP:0000929 "UMLS:C0235942" @@ -63424,32 +61863,30 @@ MONDO:0022977 "GARD:0001846" MONDO:0016026 "Orphanet:1943" MONDO:0016026 "SCTID:724274009" MONDO:0016026 "UMLS:C4510564" -MONDO:0016026 "ICD10:G40.4" MONDO:0016026 "GARD:0002995" +MONDO:0016026 "ICD10CM:G40.4" +MONDO:0005085 "ICD10CM:H11.0" MONDO:0005085 "ICD9:372.4" MONDO:0005085 "ICD9:372.40" MONDO:0005085 "MESH:D011625" MONDO:0005085 "DOID:0002116" -MONDO:0005085 "ICD10:H11.0" -MONDO:0005085 "ICD10:H11.009" MONDO:0005085 "UMLS:C0033999" MONDO:0005085 "NCIT:C133744" MONDO:0005085 "SCTID:77489003" -MONDO:0005085 "ICD10:H11.00" MONDO:0005085 "EFO:0000678" NCBITaxon:5553 "GC_ID:1" MONDO:0017584 "Orphanet:300493" MONDO:0017584 "UMLS:CN203388" -MONDO:0017237 "ICD10:G60.0" MONDO:0017237 "Orphanet:280598" MONDO:0017237 "UMLS:CN202738" +MONDO:0017237 "ICD10CM:G60.0" MONDO:0017237 "OMIM:608895" MONDO:0017237 "GARD:0011010" HP:0000812 "UMLS:C4025824" -MONDO:0019140 "ICD10:T62.2" MONDO:0019140 "Orphanet:73423" MONDO:0019140 "ICD9:988.2" MONDO:0019140 "GARD:0009299" +MONDO:0019140 "ICD10CM:T62.2" MONDO:0019140 "SCTID:49434001" MONDO:0019140 "MESH:C537562" MONDO:0000248 "MESH:D019595" @@ -63463,7 +61900,6 @@ MONDO:0008461 "OMIM:183350" MONDO:0001322 "SCTID:126734005" MONDO:0001322 "NCIT:C4567" MONDO:0001322 "DOID:116" -MONDO:0001322 "ICD10:C38.0" MONDO:0001322 "UMLS:C0346609" MONDO:0001322 "NCIT:C4651" MONDO:0002880 "DOID:4115" @@ -63487,16 +61923,16 @@ MONDO:0005272 "Orphanet:98826" MONDO:0005272 "SCTID:109996008" MONDO:0005272 "ICD9:238.72" MONDO:0005272 "NCIT:C2872" -MONDO:0005272 "ICD10:D46.7" MONDO:0005272 "MedDRA:10038269" MONDO:0005272 "ICDO:9980/3" MONDO:0005272 "UMLS:C0002893" +MONDO:0018678 "ICD10CM:D89.0" MONDO:0018678 "UMLS:CN237743" MONDO:0018678 "Orphanet:450322" -MONDO:0018678 "ICD10:D89.0" MONDO:0008789 "UMLS:C1859786" MONDO:0008789 "OMIM:206300" MONDO:0008789 "MESH:C565953" +MONDO:0009863 "ICD10CM:E70.1" MONDO:0009863 "SCTID:237914002" MONDO:0009863 "GARD:0005682" MONDO:0009863 "DOID:0090106" @@ -63505,7 +61941,6 @@ MONDO:0009863 "OMIM:261640" MONDO:0009863 "Orphanet:13" MONDO:0009863 "MESH:C535325" MONDO:0009863 "Orphanet:238583" -MONDO:0009863 "ICD10:E70.1" MONDO:0009863 "GARD:5682" MONDO:0009863 "UMLS:C0878676" MONDO:0044626 "Orphanet:488191" @@ -63514,8 +61949,8 @@ MONDO:0014418 "OMIM:615959" MONDO:0014418 "UMLS:C4014814" MONDO:0014418 "Orphanet:169186" MONDO:0013027 "OMIM:612868" +MONDO:0013027 "ICD10CM:H18.5" MONDO:0013027 "UMLS:C2748502" -MONDO:0013027 "ICD10:H18.5" MONDO:0013027 "Orphanet:98971" MONDO:0013027 "DOID:0060452" MONDO:0013027 "MESH:C567546" @@ -63544,7 +61979,6 @@ MONDO:0019402 "OMIM:603902" MONDO:0019402 "SCTID:65959000" MONDO:0019402 "MESH:D017086" MONDO:0019402 "MedDRA:10043391" -MONDO:0019402 "ICD10:D56.1" MONDO:0019402 "OMIM:187550" MONDO:0019402 "DOID:12241" MONDO:0019402 "GARD:0000871" @@ -63558,7 +61992,6 @@ MONDO:0001751 "SCTID:30144000" MONDO:0001751 "ICD9:576.2" MONDO:0001751 "UMLS:C0008370" MONDO:0001751 "DOID:13580" -MONDO:0001751 "ICD10:K83.1" MONDO:0001751 "NCIT:C83006" MONDO:0001751 "MESH:D002779" MONDO:0007654 "MESH:C537685" @@ -63571,7 +62004,6 @@ MONDO:0005779 "DOID:10881" MONDO:0005779 "SCTID:266108008" MONDO:0005779 "NCIT:C128439" MONDO:0005779 "MESH:D006232" -MONDO:0005779 "ICD10:B08.4" MONDO:0005779 "UMLS:C0018572" MONDO:0005779 "ICD9:074.3" NCBITaxon:774 "GC_ID:11" @@ -63593,7 +62025,6 @@ MONDO:0008808 "MESH:C537788" MONDO:0008808 "GARD:0000753" MONDO:0008808 "OMIM:207731" MONDO:0006721 "SCTID:21794005" -MONDO:0006721 "ICD10:M65.4" MONDO:0006721 "UMLS:C0149870" MONDO:0006721 "ICD9:727.04" MONDO:0006721 "MESH:D053684" @@ -63601,13 +62032,13 @@ MONDO:0006721 "EFO:1000891" MONDO:0006721 "DOID:14107" MONDO:0030877 "OMIM:619143" MONDO:0022470 "GARD:0000742" -MONDO:0007958 "ICD10:C73" MONDO:0007958 "Orphanet:99361" MONDO:0007958 "Orphanet:653" MONDO:0007958 "MESH:C536911" MONDO:0007958 "OMIM:155240" MONDO:0007958 "DOID:0050547" MONDO:0007958 "UMLS:C1833921" +MONDO:0007958 "ICD10CM:C73" MONDO:0000992 "DOID:10273" MONDO:0000992 "ICD9:426.6" MONDO:0000992 "SCTID:44808001" @@ -63621,9 +62052,9 @@ MONDO:0006895 "DOID:11624" MONDO:0006895 "MESH:D010412" MONDO:0006895 "ICD9:239.5" MONDO:0013760 "UMLS:C3280856" -MONDO:0013760 "ICD10:Q80.8" MONDO:0013760 "Orphanet:352333" MONDO:0013760 "OMIM:614457" +MONDO:0013760 "ICD10CM:Q80.8" MONDO:0000480 "UMLS:C0267601" MONDO:0000480 "DOID:0050839" MONDO:0000480 "SCTID:83605009" @@ -63633,30 +62064,28 @@ MONDO:0022409 "Orphanet:156162" MONDO:0017016 "Orphanet:264670" MONDO:0017016 "UMLS:CN202327" MONDO:0015704 "Orphanet:169163" -MONDO:0015704 "ICD10:Q75.0" MONDO:0015704 "MedDRA:10072229" +MONDO:0015704 "ICD10CM:Q75.0" MONDO:0010689 "SCTID:763400005" MONDO:0010689 "DOID:0110212" MONDO:0010689 "OMIM:310490" +MONDO:0010689 "ICD10CM:G60.0" MONDO:0010689 "Orphanet:101078" MONDO:0010689 "GARD:0001240" -MONDO:0010689 "ICD10:G60.0" MONDO:0019396 "Orphanet:84087" MONDO:0019396 "ICD9:583.89" +MONDO:0019396 "ICD10CM:N07.6" MONDO:0019396 "UMLS:CN206095" MONDO:0019396 "SCTID:708127008" MONDO:0019396 "UMLS:C3872695" -MONDO:0019396 "ICD10:N07.6" MONDO:0042902 "GARD:0000240" HP:0005262 "UMLS:C4025225" MONDO:0018199 "GARD:0012244" -MONDO:0018199 "ICD10:G41.8" MONDO:0018199 "Orphanet:363558" NCBITaxon:34384 "GC_ID:1" MONDO:0018457 "Orphanet:404584" MONDO:0018457 "UMLS:CN227376" MONDO:0004950 "EFO:0000178" -MONDO:0004950 "ICD10:C16.1" MONDO:0004950 "ICD9:230.2" MONDO:0004950 "DOID:10538" MONDO:0004950 "NCIT:C4911" @@ -63668,16 +62097,15 @@ MONDO:0004950 "OMIM:613659" MONDO:0004950 "UMLS:C0699791" MONDO:0014692 "UMLS:C4225281" MONDO:0014692 "Orphanet:791" -MONDO:0014692 "ICD10:H35.5" MONDO:0014692 "DOID:0110401" MONDO:0014692 "OMIM:616562" MONDO:0025369 "UMLS:C0027345" MONDO:0025369 "MESH:D009265" MONDO:0025369 "SCTID:24069003" -MONDO:0019793 "ICD10:G11.8" +MONDO:0019793 "ICD10CM:G11.8" MONDO:0019793 "Orphanet:94148" MONDO:0019793 "UMLS:CN206746" -MONDO:0016499 "ICD10:G61.0" +MONDO:0016499 "ICD10CM:G61.0" MONDO:0016499 "Orphanet:231457" MONDO:0016499 "UMLS:C2315246" MONDO:0016499 "SCTID:430042004" @@ -63717,29 +62145,28 @@ MONDO:0023122 "OMIM:601518" MONDO:0023122 "GTR:AN0101369" MONDO:0011717 "NCIT:C131832" MONDO:0011717 "MESH:C538375" -MONDO:0011717 "ICD10:E72.8" +MONDO:0011717 "ICD10CM:E72.8" MONDO:0011717 "Orphanet:35878" MONDO:0011717 "UMLS:C1847555" MONDO:0011717 "DOID:0070217" MONDO:0011717 "OMIM:606762" MONDO:0011717 "GARD:0009931" -MONDO:0001986 "ICD10:H57.01" MONDO:0001986 "DOID:14523" MONDO:0001986 "ICD9:379.45" MONDO:0001986 "UMLS:C0155375" +MONDO:0001986 "ICD10CM:H57.01" MONDO:0001986 "SCTID:21011008" MONDO:0008954 "DOID:0080477" MONDO:0008954 "OMIM:214110" MONDO:0008954 "Orphanet:912" MONDO:0008954 "UMLS:C3550273" MONDO:0009900 "Orphanet:2934" -MONDO:0009900 "ICD10:Q87.8" +MONDO:0009900 "ICD10CM:Q87.8" MONDO:0009900 "MESH:C564875" MONDO:0009900 "UMLS:C1849719" MONDO:0009900 "SCTID:724066002" MONDO:0009900 "GARD:0004428" MONDO:0009900 "OMIM:263630" -MONDO:0014750 "ICD10:Q34.8" MONDO:0014750 "OMIM:616726" MONDO:0014750 "DOID:0110619" MONDO:0014750 "UMLS:C4225230" @@ -63749,10 +62176,8 @@ MONDO:0001166 "SCTID:52845002" MONDO:0001166 "MESH:D009393" MONDO:0001166 "NCIT:C26833" MONDO:0001166 "DOID:10952" -MONDO:0001166 "ICD10:N05" MONDO:0001166 "ICD9:583.89" MONDO:0001166 "ICD9:583.7" -MONDO:0001166 "ICD10:N08" MONDO:0032698 "OMIM:618356" MONDO:0021164 "UMLS:C0235640" MONDO:0021164 "SCTID:44318002" @@ -63760,37 +62185,36 @@ HP:0002835 "UMLS:C0700198" HP:0002835 "SNOMEDCT_US:68052005" HP:0002835 "SNOMEDCT_US:413585005" HP:0002835 "UMLS:C2712334" +MONDO:0004542 "ICD10CM:C53.1" MONDO:0004542 "ONCOTREE:CEGCC" +MONDO:0004542 "ICD10CM:C53.0" MONDO:0004542 "NCIT:C40212" MONDO:0004542 "Orphanet:213833" -MONDO:0004542 "ICD10:C53.0" MONDO:0004542 "DOID:8361" MONDO:0004542 "MESH:C536823" -MONDO:0004542 "ICD10:C53.1" -MONDO:0004542 "ICD10:C53.8" +MONDO:0004542 "ICD10CM:C53.8" MONDO:0004542 "GARD:0008437" -MONDO:0010078 "ICD10:Q77.7" MONDO:0010078 "ICD9:758.89" MONDO:0010078 "Orphanet:1856" -MONDO:0010078 "UMLS:C0796173" MONDO:0010078 "GARD:0004994" +MONDO:0010078 "UMLS:C0796173" MONDO:0010078 "OMIM:271700" MONDO:0010078 "NCIT:C135088" MONDO:0010078 "SCTID:702339001" +MONDO:0010078 "ICD10CM:Q77.7" MONDO:0010078 "MESH:C535799" -MONDO:0019875 "ICD10:Q87.3" +MONDO:0019875 "ICD10CM:Q87.3" MONDO:0019875 "Orphanet:96076" MONDO:0019875 "UMLS:CN206810" +MONDO:0020357 "ICD10CM:Q10.3" MONDO:0020357 "Orphanet:98946" MONDO:0020357 "SCTID:95202004" MONDO:0020357 "UMLS:C0521573" -MONDO:0020357 "ICD10:Q10.3" MONDO:0020357 "NCIT:C98878" MONDO:0010468 "UMLS:C1835857" MONDO:0010468 "MESH:C563670" MONDO:0010468 "OMIM:300870" MONDO:0003345 "MESH:D018285" -MONDO:0003345 "ICD10:C24.0" MONDO:0003345 "DOID:4927" MONDO:0003345 "Orphanet:99978" MONDO:0003345 "DOID:5246" @@ -63798,10 +62222,10 @@ MONDO:0003345 "SCTID:253017000" MONDO:0003345 "GARD:0010175" MONDO:0003345 "NCIT:C36077" MONDO:0003345 "EFO:1001005" +MONDO:0003345 "ICD10CM:C24.0" MONDO:0003345 "UMLS:C0206702" MONDO:0020533 "Orphanet:99905" MONDO:0020533 "UMLS:C0152063" -MONDO:0020533 "ICD10:A25.1" MONDO:0020533 "UMLS:CN207435" MONDO:0020533 "ICD9:026.1" MONDO:0020533 "DOID:13238" @@ -63813,22 +62237,21 @@ MONDO:0011410 "OMIM:604211" MONDO:0011410 "UMLS:C1858696" MONDO:0011410 "MESH:C565817" MONDO:0017877 "DOID:0050197" +MONDO:0017877 "ICD10CM:A96.8" MONDO:0017877 "Orphanet:319239" MONDO:0017877 "UMLS:C0343633" MONDO:0017877 "SCTID:240524001" -MONDO:0017877 "ICD10:A96.8" MONDO:0001353 "SCTID:77116006" MONDO:0001353 "DOID:11750" MONDO:0001353 "ICD9:033.1" MONDO:0001353 "UMLS:C0275742" -MONDO:0001353 "ICD10:A37.1" +MONDO:0001353 "ICD10CM:A37.1" MONDO:0007256 "NCIT:C3099" MONDO:0007256 "NCIT:C7956" MONDO:0007256 "Orphanet:88673" MONDO:0007256 "Orphanet:449" MONDO:0007256 "MESH:D006528" MONDO:0007256 "NCIT:C7927" -MONDO:0007256 "ICD10:C22.0" MONDO:0007256 "DOID:684" MONDO:0007256 "OMIM:114550" MONDO:0007256 "ONCOTREE:HCC" @@ -63847,28 +62270,28 @@ MONDO:0005944 "EFO:0007469" MONDO:0010140 "ICD9:253.4" MONDO:0010140 "SCTID:10736002" MONDO:0010140 "NCIT:C121741" -MONDO:0010140 "ICD10:E03.1" MONDO:0010140 "Orphanet:238670" +MONDO:0010140 "ICD10CM:E03.1" MONDO:0010140 "OMIM:275120" -MONDO:0000133 "ICD10:D84.8" MONDO:0000133 "OMIM:242860" MONDO:0000133 "DOID:0090007" MONDO:0000133 "OMIM:616910" MONDO:0000133 "SCTID:234633000" MONDO:0000133 "Orphanet:2268" MONDO:0000133 "GARD:0002945" +MONDO:0000133 "ICD10CM:D84.8" MONDO:0000133 "OMIMPS:242860" MONDO:0000133 "MESH:C537362" MONDO:0000133 "OMIM:614069" MONDO:0000133 "UMLS:CN201349" MONDO:0000133 "OMIM:616911" -MONDO:0014295 "ICD10:G11.4" MONDO:0014295 "UMLS:C4510084" MONDO:0014295 "EFO:0009017" MONDO:0014295 "SCTID:723826007" MONDO:0014295 "UMLS:C3714897" MONDO:0014295 "DOID:0110809" MONDO:0014295 "OMIM:615658" +MONDO:0014295 "ICD10CM:G11.4" MONDO:0014295 "Orphanet:431329" MONDO:0012983 "MESH:C567206" MONDO:0012983 "UMLS:C2675210" @@ -63886,43 +62309,42 @@ MONDO:0012812 "NCIT:C162472" MONDO:0012812 "DOID:0080436" MONDO:0012812 "MESH:C567404" MONDO:0012812 "OMIM:612164" +MONDO:0015706 "ICD10CM:Q92.1" MONDO:0015706 "UMLS:CN073987" -MONDO:0015706 "ICD10:Q92.1" MONDO:0015706 "Orphanet:1692" MONDO:0030909 "DOID:0080242" MONDO:0030909 "UMLS:CN679647" MONDO:0030909 "OMIM:301008" MONDO:0005298 "DOID:11476" +MONDO:0005298 "ICD10CM:M81" MONDO:0005298 "SCTID:64859006" MONDO:0005298 "OMIM:166710" MONDO:0005298 "ICD9:733.0" MONDO:0005298 "MESH:D010024" MONDO:0005298 "NCIT:C3298" -MONDO:0005298 "ICD10:M81.0" MONDO:0005298 "EFO:0003882" MONDO:0005298 "ICD9:733.00" -MONDO:0005298 "ICD9:733.09" MONDO:0005298 "GARD:0011932" +MONDO:0005298 "ICD9:733.09" MONDO:0005298 "MESH:D015663" MONDO:0005298 "UMLS:C0029458" -MONDO:0005298 "ICD10:M81" NCBITaxon:181088 "GC_ID:1" MONDO:0009230 "Orphanet:49041" MONDO:0009230 "ICD9:710.8" MONDO:0009230 "OMIM:228800" MONDO:0009230 "GARD:0005697" MONDO:0009230 "SCTID:111210001" -MONDO:0009230 "ICD10:M35.5" +MONDO:0009230 "ICD10CM:M35.5" MONDO:0009230 "MESH:C537375" MONDO:0013229 "Orphanet:166412" MONDO:0013229 "OMIM:613340" -MONDO:0013229 "ICD10:G40.8" MONDO:0013229 "UMLS:C0393729" MONDO:0013229 "OMIMPS:613339" MONDO:0013229 "SCTID:230454005" MONDO:0013229 "ICD9:345.10" MONDO:0013229 "UMLS:CN200053" MONDO:0013229 "OMIM:613339" +MONDO:0013229 "ICD10CM:G40.8" MONDO:0003735 "UMLS:C1332883" MONDO:0003735 "NCIT:C7014" MONDO:0003735 "DOID:6019" @@ -63936,15 +62358,13 @@ MONDO:0011581 "SCTID:719835006" MONDO:0011581 "Orphanet:65282" MONDO:0011581 "DOID:0090128" MONDO:0001574 "SCTID:58729003" -MONDO:0001574 "ICD10:I78.9" MONDO:0001574 "ICD9:448" MONDO:0001574 "ICD9:448.9" -MONDO:0001574 "ICD10:I78" MONDO:0001574 "UMLS:C0155765" MONDO:0001574 "DOID:1271" MONDO:0007477 "OMIM:614205" -MONDO:0007477 "ICD10:Q87.1" MONDO:0007477 "DOID:0060241" +MONDO:0007477 "ICD10CM:Q87.1" MONDO:0007477 "MESH:C535314" MONDO:0007477 "SCTID:702342007" MONDO:0007477 "GARD:0005667" @@ -63961,7 +62381,7 @@ MONDO:0010704 "OMIM:311300" MONDO:0010704 "Orphanet:669" MONDO:0010704 "DOID:0111783" MONDO:0010704 "UMLS:C2748918" -MONDO:0010704 "ICD10:Q87.0" +MONDO:0010704 "ICD10CM:Q87.0" MONDO:0010704 "Orphanet:90650" MONDO:0010704 "NCIT:C118845" MONDO:0001838 "ICD9:098.12" @@ -63978,7 +62398,6 @@ MONDO:0012707 "UMLS:C1968846" MONDO:0012707 "OMIM:611634" MONDO:0012707 "DOID:0111303" MONDO:0012707 "MESH:C566901" -MONDO:0019467 "ICD10:C86.4" MONDO:0019467 "ICDO:9727/3" MONDO:0019467 "GARD:0010556" MONDO:0019467 "Orphanet:86870" @@ -63989,33 +62408,33 @@ MONDO:0019467 "UMLS:CN206246" MONDO:0019467 "ONCOTREE:BPDCN" MONDO:0019467 "SCTID:445105005" MONDO:0008557 "Orphanet:851" -MONDO:0008557 "ICD10:D69.4" MONDO:0008557 "UMLS:C1861178" MONDO:0008557 "GARD:0004224" MONDO:0008557 "OMIM:188025" MONDO:0008557 "UMLS:C1956093" +MONDO:0008557 "ICD10CM:D69.4" MONDO:0002976 "MESH:D045724" MONDO:0002976 "UMLS:C1148546" MONDO:0002976 "DOID:4370" MONDO:0009503 "OMIM:245349" +MONDO:0009503 "ICD10CM:E74.4" MONDO:0009503 "Orphanet:255182" MONDO:0009503 "UMLS:C1855553" -MONDO:0009503 "ICD10:E74.4" MONDO:0009503 "Orphanet:765" MONDO:0006337 "NCIT:C27628" MONDO:0006337 "UMLS:C0156344" MONDO:0006337 "EFO:1000418" MONDO:0006337 "ICD9:617.1" -MONDO:0006337 "ICD10:N80.1" +MONDO:0006337 "ICD10CM:N80.1" MONDO:0006337 "DOID:11432" MONDO:0006337 "SCTID:266589005" MONDO:0100249 "UMLS:CN205000" MONDO:0100249 "DOID:0111760" -MONDO:0100249 "ICD10:Q99.1" MONDO:0100249 "OMIM:278850" MONDO:0100249 "Orphanet:393" MONDO:0100249 "MESH:D058531" MONDO:0100249 "UMLS:C2936419" +MONDO:0100249 "ICD10CM:Q99.1" MONDO:0100249 "NCIT:C127170" MONDO:0100249 "UMLS:C2748895" MONDO:0100249 "GARD:0000399" @@ -64027,55 +62446,53 @@ MONDO:0010925 "MESH:C536536" MONDO:0010925 "GARD:0005469" MONDO:0010925 "OMIM:600736" MONDO:0010925 "Orphanet:3424" +MONDO:0010925 "ICD10CM:Q87.0" MONDO:0010925 "SCTID:763616002" -MONDO:0010925 "ICD10:Q87.0" MONDO:0004345 "NCIT:C8094" MONDO:0004345 "UMLS:C0279987" MONDO:0004345 "DOID:7732" HP:0011400 "UMLS:C4021152" MONDO:0019654 "UMLS:CN206527" MONDO:0019654 "Orphanet:93217" -MONDO:0019654 "ICD10:N04.8" +MONDO:0019654 "ICD10CM:N04.8" MONDO:0009161 "GARD:0002089" MONDO:0009161 "OMIM:225410" MONDO:0009161 "SCTID:55711009" MONDO:0009161 "MESH:C567527" MONDO:0009161 "Orphanet:1901" -MONDO:0009161 "ICD10:Q79.6" +MONDO:0009161 "ICD10CM:Q79.6" MONDO:0014342 "Orphanet:404466" MONDO:0014342 "OMIM:615774" MONDO:0014342 "UMLS:C4014291" -MONDO:0014342 "ICD10:N97.8" +MONDO:0014342 "ICD10CM:N97.8" HP:0000093 "UMLS:C0033687" HP:0000093 "MSH:D011507" HP:0000093 "SNOMEDCT_US:29738008" MONDO:0002061 "UMLS:C1334252" MONDO:0002061 "DOID:1628" MONDO:0002061 "NCIT:C36090" +MONDO:0005578 "ICD10CM:M05-M14" MONDO:0005578 "DOID:848" MONDO:0005578 "EFO:0005856" MONDO:0005578 "MESH:D001168" MONDO:0005578 "SCTID:3723001" MONDO:0005578 "Wikipedia:Arthritis" MONDO:0005578 "UMLS:C0003864" -MONDO:0005578 "ICD10:M19.90" MONDO:0005578 "NCIT:C2883" MONDO:0006524 "DOID:0060344" MONDO:0006524 "SCTID:4340003" MONDO:0006524 "DERMO:0002165" MONDO:0006524 "UMLS:C0263421" -MONDO:0006524 "ICD10:L90.4" MONDO:0006524 "EFO:1000665" MONDO:0006524 "ICD9:701.8" +MONDO:0006524 "ICD10CM:L90.4" MONDO:0100436 "OMIM:604307" MONDO:0100436 "DOID:0110235" MONDO:0035008 "Orphanet:583856" NCBITaxon:6281 "GC_ID:1" -NCBITaxon:186817 "GC_ID:11" MONDO:0015570 "Orphanet:162526" -MONDO:0015570 "ICD10:Q16.3" +NCBITaxon:186817 "GC_ID:11" MONDO:0004660 "DOID:8800" -MONDO:0004660 "ICD10:D02.2" MONDO:0004660 "ICD9:231.2" MONDO:0004660 "SCTID:92649001" MONDO:0004660 "UMLS:C0685053" @@ -64098,46 +62515,45 @@ MONDO:0000389 "DOID:0050648" MONDO:0000389 "OMIMPS:108720" MONDO:0015698 "SCTID:88714009" MONDO:0015698 "ICD9:279.09" +MONDO:0015698 "ICD10CM:D80.7" MONDO:0015698 "MedDRA:10044388" MONDO:0015698 "UMLS:C0272238" MONDO:0015698 "NCIT:C27071" -MONDO:0015698 "ICD10:D80.7" MONDO:0015698 "Orphanet:169139" MONDO:0015698 "DOID:624" -MONDO:0020359 "ICD10:Q11.2" +MONDO:0020359 "ICD10CM:Q11.2" MONDO:0020359 "DOID:0111720" MONDO:0020359 "Orphanet:98948" MONDO:0021333 "NCIT:C3490" MONDO:0021333 "UMLS:C0149637" MONDO:0021333 "SCTID:269515006" MONDO:0005077 "SCTID:26484003" +MONDO:0005077 "ICD10CM:A37.1" MONDO:0005077 "MESH:D014917" MONDO:0005077 "GARD:0008692" MONDO:0005077 "ICD9:033.0" -MONDO:0005077 "ICD10:A37.0" +MONDO:0005077 "ICD10CM:A37.0" MONDO:0005077 "EFO:0000650" MONDO:0005077 "ICD9:033.9" -MONDO:0005077 "ICD10:A37.9" MONDO:0005077 "Orphanet:1489" MONDO:0005077 "ICD9:033" MONDO:0005077 "NCIT:C85231" MONDO:0005077 "MedDRA:10034738" -MONDO:0005077 "ICD10:A37.8" +MONDO:0005077 "ICD10CM:A37.8" MONDO:0005077 "MedDRA:10047974" MONDO:0005077 "DOID:1116" MONDO:0005077 "SCTID:27836007" MONDO:0005077 "KEGG:05133" -MONDO:0005077 "ICD10:A37.1" +MONDO:0005077 "ICD10CM:A37.9" MONDO:0005077 "UMLS:C0043167" MONDO:0015874 "Orphanet:180284" MONDO:0015874 "UMLS:CN200479" -MONDO:0015874 "ICD10:D24" +MONDO:0015874 "ICD10CM:D24" MONDO:0020535 "UMLS:C4511048" -MONDO:0020535 "ICD10:J67.8" +MONDO:0020535 "ICD10CM:J67.8" MONDO:0020535 "SCTID:725415009" MONDO:0020535 "Orphanet:99907" MONDO:0017727 "Orphanet:3092" -MONDO:0017727 "ICD10:Q24.4" MONDO:0017727 "OMIM:271950" MONDO:0020136 "Orphanet:98534" MONDO:0020136 "UMLS:CN207020" @@ -64164,7 +62580,6 @@ MONDO:0013199 "DOID:0080325" MONDO:0013199 "GARD:0005381" MONDO:0014145 "OMIM:615360" MONDO:0014145 "DOID:0110217" -MONDO:0014145 "ICD10:H35.5" MONDO:0014145 "UMLS:C3715164" MONDO:0010633 "OMIM:308500" MONDO:0010633 "MESH:C535538" @@ -64179,11 +62594,11 @@ MONDO:0008266 "Orphanet:93335" MONDO:0012814 "OMIM:612198" MONDO:0012814 "UMLS:C2677303" MONDO:0012814 "MESH:C567402" -MONDO:0017914 "ICD10:G11.4" +MONDO:0017914 "ICD10CM:G11.4" MONDO:0017914 "Orphanet:320342" -MONDO:0007421 "ICD10:Q87.0" MONDO:0007421 "SCTID:716243005" MONDO:0007421 "OMIM:124490" +MONDO:0007421 "ICD10CM:Q87.0" MONDO:0007421 "MESH:C565123" MONDO:0007421 "Orphanet:3232" MONDO:0005805 "Orphanet:430" @@ -64192,7 +62607,6 @@ MONDO:0005805 "DOID:12926" MONDO:0005805 "EFO:0007320" MONDO:0005805 "MESH:D007000" MONDO:0011709 "OMIM:606708" -MONDO:0011709 "ICD10:Q71.6" MONDO:0011709 "NCIT:C75002" MONDO:0011709 "UMLS:C0265554" MONDO:0011709 "MESH:C564674" @@ -64200,9 +62614,9 @@ MONDO:0011709 "DOID:0090022" MONDO:0011709 "UMLS:C1847622" MONDO:0011709 "Orphanet:2440" MONDO:0024953 "MESH:D007794" -MONDO:0014460 "ICD10:Q82.8" MONDO:0014460 "UMLS:C4014987" MONDO:0014460 "Orphanet:423454" +MONDO:0014460 "ICD10CM:Q82.8" MONDO:0014460 "OMIM:616029" MONDO:0007327 "OMIM:118830" MONDO:0007327 "UMLS:C1861560" @@ -64220,15 +62634,15 @@ MONDO:0006190 "HP:0030393" MONDO:0006190 "ICD9:212.0" MONDO:0006526 "DOID:10612" MONDO:0006526 "ICD9:708.0" -MONDO:0006526 "ICD10:L50.0" +MONDO:0006526 "ICD10CM:L50.0" MONDO:0006526 "Wikipedia:Urticaria#Allergic_urticaria" MONDO:0006526 "EFO:1000669" MONDO:0006526 "SCTID:40178009" MONDO:0006526 "UMLS:C0149526" +MONDO:0008453 "ICD10CM:G12.1" MONDO:0008453 "OMIM:182980" MONDO:0008453 "Orphanet:209335" MONDO:0008453 "UMLS:CN200940" -MONDO:0008453 "ICD10:G12.1" MONDO:0008453 "DOID:0111194" NCBITaxon:2662056 "GC_ID:1" MONDO:0000797 "DOID:0060522" @@ -64253,10 +62667,8 @@ MONDO:0006713 "MedDRA:10011031" MONDO:0006713 "DOID:11382" MONDO:0006713 "ICD9:370.60" MONDO:0006713 "MESH:D016510" -MONDO:0006713 "ICD10:H16.4" MONDO:0006713 "UMLS:C0085109" MONDO:0006713 "ICD9:370.6" -MONDO:0006713 "ICD10:H16.40" MONDO:0006713 "SCTID:19161004" MONDO:0006713 "EFO:1000880" MONDO:0016560 "UMLS:CN201643" @@ -64264,12 +62676,10 @@ MONDO:0016560 "Orphanet:238766" MONDO:0009894 "NCIT:C122654" MONDO:0009894 "Orphanet:93269" MONDO:0009894 "DOID:0110092" -MONDO:0009894 "ICD10:Q77.2" MONDO:0009894 "OMIM:263520" MONDO:0007850 "OMIM:148210" MONDO:0007850 "UMLS:C0265336" MONDO:0007850 "Orphanet:477" -MONDO:0007850 "ICD10:Q80.8" MONDO:0007850 "DOID:0060871" MONDO:0014835 "OMIM:616922" MONDO:0014835 "UMLS:C4310791" @@ -64277,24 +62687,22 @@ MONDO:0001379 "DOID:11818" MONDO:0001379 "UMLS:C0153614" MONDO:0001379 "ICD9:188.6" MONDO:0001379 "NCIT:C12337" -MONDO:0001379 "ICD10:C67.6" MONDO:0001379 "SCTID:188245008" HP:0003623 "UMLS:C1855106" MONDO:0010171 "Orphanet:231169" MONDO:0010171 "UMLS:C1848604" MONDO:0010171 "OMIM:276904" MONDO:0010171 "DOID:0110830" -MONDO:0010171 "ICD10:H35.5" MONDO:0010171 "Orphanet:886" MONDO:0010171 "GARD:0005437" MONDO:0025193 "Orphanet:98897" +MONDO:0025193 "ICD10CM:G71.0" MONDO:0025193 "MESH:C563508" MONDO:0025193 "SCTID:763829004" MONDO:0025193 "GARD:0012592" MONDO:0025193 "UMLS:C1834014" MONDO:0025193 "OMIMPS:164310" -MONDO:0025193 "ICD10:G71.0" -MONDO:0017506 "ICD10:Q71.3" +MONDO:0017506 "ICD10CM:Q71.3" MONDO:0017506 "Orphanet:295110" MONDO:0004755 "MESH:D008989" MONDO:0004755 "EFO:1001372" @@ -64302,13 +62710,13 @@ MONDO:0004755 "UMLS:C0026414" MONDO:0004755 "DOID:931" MONDO:0033853 "Orphanet:521432" MONDO:0009902 "DOID:13271" +MONDO:0009902 "ICD10CM:E80.0" MONDO:0009902 "SCTID:67312003" MONDO:0009902 "OMIM:263700" MONDO:0009902 "GARD:0004446" MONDO:0009902 "NCIT:C84697" MONDO:0009902 "MESH:D017092" MONDO:0009902 "Orphanet:79277" -MONDO:0009902 "ICD10:E80.0" MONDO:0016443 "UMLS:C0473584" MONDO:0016443 "Orphanet:228264" MONDO:0016443 "SCTID:239138008" @@ -64321,11 +62729,11 @@ MONDO:0013565 "OMIM:614082" MONDO:0003558 "DOID:5634" MONDO:0003558 "NCIT:C5538" MONDO:0003558 "UMLS:C1335503" +MONDO:0001284 "ICD10CM:N80.5" MONDO:0001284 "UMLS:C0156347" MONDO:0001284 "SCTID:5562006" MONDO:0001284 "ICD9:617.5" MONDO:0001284 "DOID:11428" -MONDO:0001284 "ICD10:N80.5" MONDO:0012350 "Orphanet:200421" MONDO:0012350 "Orphanet:93579" MONDO:0012350 "Orphanet:54370" @@ -64341,7 +62749,6 @@ NCBITaxon:10245 "GC_ID:1" MONDO:0013823 "UMLS:C3281297" MONDO:0013823 "DOID:0110574" MONDO:0013823 "OMIM:614614" -MONDO:0013823 "ICD10:H90.3" NCBITaxon:36362 "GC_ID:1" MONDO:0015548 "MESH:C580174" MONDO:0015548 "SCTID:702376003" @@ -64355,7 +62762,6 @@ HP:0100774 "SNOMEDCT_US:13814009" HP:0100774 "MSH:D015576" HP:0100774 "UMLS:C0020492" CL:0000103 "FMA:67282" -MONDO:0004638 "ICD10:C85.9" MONDO:0004638 "ICD9:200.10" MONDO:0004638 "NCIT:C27824" MONDO:0004638 "SCTID:188498009" @@ -64366,7 +62772,6 @@ MONDO:0004638 "NCIT:C3211" MONDO:0004638 "ICD9:200.0" MONDO:0004638 "SCTID:373168002" MONDO:0004638 "SCTID:118601006" -MONDO:0004638 "ICD10:C85.0" MONDO:0004638 "DOID:8675" MONDO:0004638 "MESH:D008228" MONDO:0004638 "ICD9:200.7" @@ -64376,8 +62781,8 @@ MONDO:0043373 "SCTID:715239002" MONDO:0043373 "Orphanet:90059" MONDO:0043373 "MESH:D003639" MONDO:0043373 "GARD:0012927" +MONDO:0013752 "ICD10CM:Q23.4" MONDO:0013752 "OMIM:614435" -MONDO:0013752 "ICD10:Q23.4" MONDO:0013752 "UMLS:C3280795" MONDO:0013752 "MESH:D018636" MONDO:0013752 "MedDRA:10021076" @@ -64398,12 +62803,12 @@ MONDO:0006329 "DOID:369" MONDO:0006329 "EFO:1000407" MONDO:0016152 "Orphanet:207104" MONDO:0010635 "OMIM:308700" -MONDO:0010635 "ICD10:E23.0" MONDO:0010635 "Orphanet:478" MONDO:0010635 "GARD:0003071" MONDO:0010635 "NCIT:C75480" MONDO:0010635 "DOID:0090094" MONDO:0010635 "UMLS:C1563719" +MONDO:0009139 "ICD10CM:Q77.7" MONDO:0009139 "MESH:C537999" MONDO:0009139 "ICD9:756.59" MONDO:0009139 "UMLS:C0432209" @@ -64411,15 +62816,14 @@ MONDO:0009139 "SCTID:95243004" MONDO:0009139 "Orphanet:156731" MONDO:0009139 "OMIM:224400" MONDO:0009139 "GARD:0009810" -MONDO:0009139 "ICD10:Q77.7" MONDO:0004168 "DOID:7269" MONDO:0004168 "UMLS:C1515292" MONDO:0004168 "NCIT:C40957" +MONDO:0015735 "ICD10CM:G71.2" MONDO:0015735 "Orphanet:171430" MONDO:0015735 "OMIM:256030" MONDO:0015735 "OMIM:616165" MONDO:0015735 "OMIM:615731" -MONDO:0015735 "ICD10:G71.2" MONDO:0015735 "GARD:0012821" MONDO:0015735 "OMIM:615348" MONDO:0015735 "OMIM:161800" @@ -64431,8 +62835,8 @@ MONDO:0005242 "SCTID:312682007" MONDO:0009529 "Orphanet:2394" MONDO:0009529 "UMLS:CN043137" MONDO:0009529 "SCTID:29914000" -MONDO:0009529 "ICD10:E74.4" MONDO:0009529 "Orphanet:765" +MONDO:0009529 "ICD10CM:E74.4" MONDO:0009529 "OMIM:246900" MONDO:0009529 "UMLS:C0268193" MONDO:0009529 "GARD:0003263" @@ -64442,17 +62846,17 @@ MONDO:0008759 "UMLS:C2752074" MONDO:0008759 "OMIM:203740" MONDO:0008759 "SCTID:733630004" MONDO:0008759 "Orphanet:31" -MONDO:0008759 "ICD10:E88.8" +MONDO:0008759 "ICD10CM:E88.8" MONDO:0011794 "Orphanet:33069" +MONDO:0011794 "ICD10CM:G40.4" MONDO:0011794 "OMIM:615744" -MONDO:0011794 "ICD10:G40.4" MONDO:0011794 "OMIM:612164" MONDO:0009705 "Orphanet:156" MONDO:0009705 "MESH:C535588" MONDO:0009705 "ICD9:277.85" -MONDO:0009705 "ICD10:E71.3" MONDO:0009705 "OMIM:255120" MONDO:0009705 "SCTID:238001003" +MONDO:0009705 "ICD10CM:E71.3" MONDO:0009705 "GARD:0001120" MONDO:0009705 "UMLS:C1829703" MONDO:0009705 "NCIT:C98871" @@ -64472,12 +62876,11 @@ MONDO:0000741 "UMLS:C0221237" MONDO:0000741 "SCTID:7847004" MONDO:0000741 "SCTID:16459000" MONDO:0000741 "NCIT:C112198" -MONDO:0000741 "ICD10:K13.0" MONDO:0000741 "MESH:D002613" MONDO:0000741 "UMLS:C0007971" +MONDO:0017593 "ICD10CM:G12.2" MONDO:0017593 "UMLS:CN239582" MONDO:0017593 "GARD:0011901" -MONDO:0017593 "ICD10:G12.2" MONDO:0017593 "UMLS:C3468114" MONDO:0017593 "Orphanet:300605" MONDO:0017593 "OMIM:614373" @@ -64490,13 +62893,12 @@ MONDO:0004230 "NCIT:C3762" MONDO:0004230 "DOID:746" MONDO:0004230 "ICDO:9050/0" MONDO:0004230 "ICDO:9052/0" -MONDO:0004230 "ICD10:D19.9" MONDO:0004230 "ICDO:9054/0" -MONDO:0009326 "ICD10:Q24.6" MONDO:0009326 "GARD:0006164" MONDO:0009326 "OMIM:234700" MONDO:0009326 "MedDRA:10019263" MONDO:0009326 "DOID:990" +MONDO:0009326 "ICD10CM:Q24.6" MONDO:0009326 "UMLS:C0149530" MONDO:0009326 "SCTID:46619002" MONDO:0009326 "MESH:C535758" @@ -64509,7 +62911,6 @@ MONDO:0006683 "DOID:3690" MONDO:0006683 "ICD9:353.0" MONDO:0006683 "EFO:1000844" MONDO:0006683 "NCIT:C27194" -MONDO:0006683 "ICD10:G54.0" CL:0000097 "BTO:0000830" CL:0000097 "FMA:66784" CL:0000097 "CALOHA:TS-0603" @@ -64517,8 +62918,8 @@ MONDO:0003033 "DOID:4524" MONDO:0003033 "UMLS:C1335504" MONDO:0003033 "NCIT:C5528" MONDO:0016317 "Orphanet:217253" -MONDO:0016317 "ICD10:G13.1" MONDO:0016317 "UMLS:C4274344" +MONDO:0016317 "ICD10CM:G13.1" MONDO:0016317 "SCTID:716684004" MONDO:0016317 "UMLS:CN201135" MONDO:0002920 "EFO:1000357" @@ -64530,9 +62931,9 @@ MONDO:0002920 "NCIT:C4270" MONDO:0001158 "DOID:10932" MONDO:0001158 "SCTID:1376001" MONDO:0001158 "ICD9:301.4" +MONDO:0001158 "ICD10CM:F60.5" MONDO:0001158 "MESH:D003193" MONDO:0001158 "NCIT:C92638" -MONDO:0001158 "ICD10:F60.5" MONDO:0030433 "OMIM:619519" MONDO:0021156 "UMLS:C0342409" MONDO:0021156 "NCIT:C12399" @@ -64545,8 +62946,8 @@ MONDO:0002295 "SCTID:254795008" MONDO:0002295 "DOID:2430" MONDO:0018995 "UMLS:CN043578" MONDO:0018995 "DOID:0050541" -MONDO:0018995 "ICD10:G60.0" MONDO:0018995 "SCTID:715795005" +MONDO:0018995 "ICD10CM:G60.0" MONDO:0018995 "GARD:0012440" MONDO:0018995 "Orphanet:64749" MONDO:0002100 "NCIT:C114940" @@ -64557,14 +62958,14 @@ MONDO:0002100 "UMLS:C3898472" MONDO:0008003 "MESH:C563575" MONDO:0008003 "OMIM:613077" MONDO:0008003 "UMLS:CN202062" +MONDO:0008003 "ICD10CM:H49.4" MONDO:0008003 "OMIM:609286" MONDO:0008003 "OMIM:157640" MONDO:0008003 "OMIM:609283" -MONDO:0008003 "ICD10:H49.4" MONDO:0008003 "Orphanet:254892" MONDO:0008003 "OMIM:610131" +MONDO:0017780 "ICD10CM:Q93.5" MONDO:0017780 "Orphanet:313781" -MONDO:0017780 "ICD10:Q93.5" MONDO:0017780 "UMLS:CN203720" MONDO:0005671 "EFO:0007173" MONDO:0005671 "SCTID:721809007" @@ -64601,12 +63002,11 @@ MONDO:0011215 "UMLS:C1865639" MONDO:0011215 "OMIM:602361" MONDO:0011215 "MESH:C537291" MONDO:0011215 "SCTID:722109008" +MONDO:0011215 "ICD10CM:Q78.0" MONDO:0011215 "GARD:0003396" MONDO:0011215 "Orphanet:2763" -MONDO:0011215 "ICD10:Q78.0" MONDO:0014438 "DOID:0110132" MONDO:0014438 "MESH:C565919" -MONDO:0014438 "ICD10:Q87.89" MONDO:0014438 "UMLS:C1859568" MONDO:0014438 "EFO:0009022" MONDO:0014438 "GARD:0010209" @@ -64616,14 +63016,13 @@ MONDO:0010000 "UMLS:C1849333" MONDO:0010000 "MESH:C564829" MONDO:0008297 "SCTID:58275005" MONDO:0008297 "GARD:0007848" +MONDO:0008297 "ICD10CM:E80.2" MONDO:0008297 "MESH:D046350" -MONDO:0008297 "ICD10:E80.2" MONDO:0008297 "OMIM:176200" MONDO:0008297 "DOID:4346" MONDO:0008297 "NCIT:C85219" MONDO:0008297 "UMLS:C0162532" MONDO:0008297 "Orphanet:79473" -MONDO:0018362 "ICD10:G50.1" MONDO:0018362 "Orphanet:398147" MONDO:0005788 "MESH:D016751" MONDO:0005788 "EFO:0007303" @@ -64641,7 +63040,7 @@ MONDO:0013825 "OMIM:614616" MONDO:0013825 "Orphanet:314373" MONDO:0013825 "DOID:0060780" MONDO:0013825 "UMLS:C3553270" -MONDO:0013825 "ICD10:P78.3" +MONDO:0013825 "ICD10CM:P78.3" MONDO:0020692 "OMIM:277300" MONDO:0011573 "DOID:0111279" MONDO:0011573 "OMIM:605606" @@ -64649,17 +63048,17 @@ MONDO:0012656 "OMIM:611369" MONDO:0012656 "DOID:0060653" MONDO:0012656 "SCTID:715420005" MONDO:0012656 "OMIM:614915" -MONDO:0012656 "ICD10:Q68.8" MONDO:0012656 "UMLS:C1969655" MONDO:0012656 "Orphanet:137783" MONDO:0012656 "GARD:0012644" MONDO:0012656 "UMLS:C4275144" MONDO:0012656 "MESH:C566961" +MONDO:0012656 "ICD10CM:Q68.8" MONDO:0011402 "UMLS:C1858726" -MONDO:0011402 "ICD10:Q87.8" MONDO:0011402 "SCTID:702433001" MONDO:0011402 "MESH:C565822" MONDO:0011402 "Orphanet:48431" +MONDO:0011402 "ICD10CM:Q87.8" MONDO:0011402 "ICD9:759.89" MONDO:0011402 "OMIM:604168" MONDO:0013602 "Orphanet:29072" @@ -64679,13 +63078,10 @@ MONDO:0006392 "EFO:1000502" MONDO:0006392 "NCIT:C5619" MONDO:0006392 "UMLS:C1335679" MONDO:0005975 "ICD9:382" -MONDO:0005975 "ICD10:H66" MONDO:0005975 "DOID:11506" -MONDO:0005975 "ICD10:H66.40" MONDO:0005975 "SCTID:38394007" MONDO:0005975 "MESH:D010035" MONDO:0005975 "SCTID:39288006" -MONDO:0005975 "ICD10:H66.4" MONDO:0005975 "ICD9:382.4" MONDO:0005975 "EFO:0007503" MONDO:0005975 "UMLS:C0029888" @@ -64698,25 +63094,24 @@ MONDO:0003931 "DOID:6575" MONDO:0000428 "DOID:0050738" MONDO:0000428 "UMLS:C1563751" MONDO:0000428 "MESH:D050174" -MONDO:0015033 "ICD10:I68.0*" +MONDO:0015033 "ICD10EXP:E85.4+" +MONDO:0015033 "ICD10EXP:I68.0*" MONDO:0015033 "ICD9:277.39" MONDO:0015033 "Orphanet:100006" MONDO:0015033 "SCTID:56453003" MONDO:0015033 "OMIM:605714" -MONDO:0015033 "ICD10:E85.4+" HP:0005607 "Fyler:4232" HP:0005607 "UMLS:C4021631" MONDO:0012155 "OMIM:608911" MONDO:0012155 "ICD9:748.0" MONDO:0012155 "MedDRA:10008587" -MONDO:0012155 "ICD10:Q30.0" +MONDO:0012155 "ICD10CM:Q30.0" MONDO:0012155 "SCTID:204508009" MONDO:0012155 "Orphanet:137914" MONDO:0012155 "DOID:9574" MONDO:0012155 "MESH:D002754" MONDO:0019624 "MESH:C538173" MONDO:0019624 "GARD:0008605" -MONDO:0019624 "ICD10:T78.3" MONDO:0019624 "OMIM:300909" MONDO:0019624 "Orphanet:91385" MONDO:0019624 "UMLS:C2931758" @@ -64726,8 +63121,8 @@ MONDO:0013388 "OMIM:613721" MONDO:0013388 "UMLS:C3150987" MONDO:0013388 "DOID:0080421" MONDO:0017212 "Orphanet:279928" +MONDO:0014334 "ICD10CM:D81.1" MONDO:0014334 "UMLS:C4014233" -MONDO:0014334 "ICD10:D81.1" MONDO:0014334 "OMIM:615758" MONDO:0014334 "Orphanet:280142" MONDO:0015900 "Orphanet:181419" @@ -64735,7 +63130,7 @@ MONDO:0015900 "SCTID:60086000" MONDO:0015900 "UMLS:C0020595" MONDO:0015900 "GARD:0002874" MONDO:0015900 "MESH:D006994" -MONDO:0015900 "ICD10:E27.4" +MONDO:0015900 "ICD10CM:E27.4" MONDO:0013271 "UMLS:C3150706" MONDO:0013271 "OMIM:613456" MONDO:0013271 "Orphanet:306542" @@ -64748,8 +63143,8 @@ CL:0000604 "FMA:67747" CL:0000604 "CALOHA:TS-0870" CL:0000604 "BTO:0001024" MONDO:0011396 "UMLS:C1858805" -MONDO:0011396 "ICD10:Q82.8" MONDO:0011396 "SCTID:717183001" +MONDO:0011396 "ICD10CM:Q82.8" MONDO:0011396 "OMIM:604117" MONDO:0011396 "Orphanet:79395" MONDO:0011396 "MESH:C565826" @@ -64761,25 +63156,25 @@ MONDO:0015254 "ICD9:120.8" MONDO:0015254 "NCIT:C35000" MONDO:0015254 "ICD9:120.9" MONDO:0015254 "MESH:D012552" -MONDO:0015254 "ICD10:B65.1" -MONDO:0015254 "ICD10:B65.3" +MONDO:0015254 "ICD10CM:B65.9" MONDO:0015254 "OMIM:181460" -MONDO:0015254 "ICD10:B65.0" -MONDO:0015254 "ICD10:B65.9" MONDO:0015254 "DOID:1395" -MONDO:0015254 "ICD10:B65.2" +MONDO:0015254 "ICD10CM:B65.1" MONDO:0015254 "Orphanet:1247" +MONDO:0015254 "ICD10CM:B65.8" MONDO:0015254 "GARD:0009687" MONDO:0015254 "SCTID:10087007" MONDO:0015254 "EFO:1001475" -MONDO:0015254 "ICD10:B65.8" MONDO:0015254 "MedDRA:10039603" MONDO:0015254 "UMLS:C0036323" +MONDO:0015254 "ICD10CM:B65.0" +MONDO:0015254 "ICD10CM:B65.3" +MONDO:0015254 "ICD10CM:B65.2" NCBITaxon:426439 "GC_ID:1" NCBITaxon:1538075 "GC_ID:1" MONDO:0035375 "Orphanet:598363" -MONDO:0035375 "ICD10:U10.9" MONDO:0020145 "Orphanet:98553" +MONDO:0020145 "ICD10CM:Q10-Q18" MONDO:0010256 "OMIM:300143" MONDO:0000249 "SCTID:15699003" MONDO:0000249 "UMLS:C0267557" @@ -64787,45 +63182,45 @@ MONDO:0000249 "HP:0005208" MONDO:0000249 "DOID:0050129" MONDO:0001323 "UMLS:C1449721" MONDO:0001323 "ICD9:778.7" +MONDO:0001323 "ICD10CM:P83.4" MONDO:0001323 "MESH:D006177" MONDO:0001323 "NCIT:C117312" MONDO:0001323 "SCTID:34831003" MONDO:0001323 "DOID:11603" -MONDO:0001323 "ICD10:P83.4" MONDO:0002881 "NCIT:C40277" MONDO:0002881 "UMLS:C1519914" MONDO:0002881 "DOID:4117" MONDO:0023521 "GARD:0003061" MONDO:0023521 "MESH:C537692" MONDO:0023521 "UMLS:C2931590" -MONDO:0009192 "SCTID:254066006" -MONDO:0009192 "DOID:0090060" MONDO:0009192 "MESH:C536739" -MONDO:0009192 "ICD10:E13" -MONDO:0009192 "Orphanet:1667" +MONDO:0009192 "ICD10CM:E13" +MONDO:0009192 "DOID:0090060" MONDO:0009192 "OMIM:226980" +MONDO:0009192 "SCTID:254066006" MONDO:0009192 "NCIT:C131007" MONDO:0009192 "UMLS:C0432217" MONDO:0009192 "GARD:0005589" +MONDO:0009192 "Orphanet:1667" NCBITaxon:694014 "GC_ID:1" MONDO:0021229 "NCIT:C4364" MONDO:0021229 "UMLS:C0339349" MONDO:0016183 "Orphanet:209027" MONDO:0015894 "Orphanet:181399" CL:1000324 "FMA:263063" -MONDO:0016840 "ICD10:Q92.2" MONDO:0016840 "UMLS:C0795865" MONDO:0016840 "SCTID:717049005" +MONDO:0016840 "ICD10CM:Q92.2" MONDO:0016840 "GARD:0005318" MONDO:0016840 "MESH:C538048" MONDO:0016840 "Orphanet:261290" MONDO:0020332 "ONCOTREE:SMAHN" MONDO:0020332 "ICDO:9741/3" +MONDO:0020332 "ICD10CM:C96.2" MONDO:0020332 "SCTID:397015000" MONDO:0020332 "DOID:4797" MONDO:0020332 "EFO:1000559" MONDO:0020332 "Orphanet:98849" -MONDO:0020332 "ICD10:C96.2" MONDO:0020332 "NCIT:C9284" MONDO:0005407 "EFO:0004594" MONDO:0002764 "ONCOTREE:USCC" @@ -64849,16 +63244,16 @@ MONDO:0010477 "OMIM:300895" MONDO:0022978 "GARD:0001847" MONDO:0022607 "GARD:0010006" MONDO:0020542 "SCTID:237795006" -MONDO:0020542 "ICD10:C56" MONDO:0020542 "UMLS:C0342515" +MONDO:0020542 "ICD10CM:C56" MONDO:0020542 "Orphanet:99916" MONDO:0020542 "ICD9:239.5" MONDO:0020542 "UMLS:CN207443" MONDO:0017585 "Orphanet:300501" MONDO:0017585 "UMLS:CN203391" MONDO:0017585 "GARD:0011006" -MONDO:0019141 "ICD10:Q82.8" MONDO:0019141 "SCTID:80432009" +MONDO:0019141 "ICD10CM:Q82.8" MONDO:0019141 "OMIM:175900" MONDO:0019141 "ICD9:757.39" MONDO:0019141 "UMLS:C0949506" @@ -64880,6 +63275,7 @@ MONDO:0007265 "DOID:0111460" MONDO:0007265 "UMLS:C1275081" MONDO:0007265 "Orphanet:1340" MONDO:0006011 "ICD9:573.1" +MONDO:0006011 "ICD10CM:B15-B19" MONDO:0006011 "EFO:0004196" MONDO:0006011 "MESH:D006525" MONDO:0006011 "UMLS:C0019195" @@ -64888,20 +63284,18 @@ MONDO:0006011 "DOID:1884" MONDO:0006011 "SCTID:3738000" MONDO:0006011 "MESH:D006524" MONDO:0006011 "UMLS:C0019194" -MONDO:0006011 "ICD10:B15.B19" MONDO:0006011 "UMLS:C0042721" MONDO:0022815 "GARD:0009972" MONDO:0022815 "UMLS:C2931075" MONDO:0022815 "MESH:C535977" MONDO:0001752 "MESH:D004368" -MONDO:0001752 "ICD10:M27.3" MONDO:0001752 "UMLS:C0013240" MONDO:0001752 "SCTID:61804006" MONDO:0001752 "DOID:13585" MONDO:0001752 "ICD9:526.5" -MONDO:0007655 "ICD10:K14.5" MONDO:0007655 "OMIM:137400" MONDO:0007655 "ICD9:750.13" +MONDO:0007655 "ICD10CM:K14.5" MONDO:0007655 "GARD:0006493" MONDO:0007655 "MESH:D014063" MONDO:0007655 "SCTID:52368004" @@ -64912,36 +63306,36 @@ MONDO:0007655 "UMLS:C1842051" MONDO:0011081 "GARD:0001428" MONDO:0011081 "MESH:C563315" MONDO:0011081 "UMLS:C1832353" +MONDO:0011081 "ICD10CM:Q87.2" MONDO:0011081 "SCTID:763755009" MONDO:0011081 "OMIM:601450" MONDO:0011081 "Orphanet:2412" -MONDO:0011081 "ICD10:Q87.2" -MONDO:0013050 "ICD10:Q87.8" MONDO:0013050 "MESH:C567856" MONDO:0013050 "OMIM:612938" MONDO:0013050 "Orphanet:210144" +MONDO:0013050 "ICD10CM:Q87.8" MONDO:0010664 "MESH:C536678" MONDO:0010664 "DOID:0060802" MONDO:0010664 "UMLS:C0796160" MONDO:0010664 "OMIM:309583" MONDO:0010664 "ICD9:758.89" +MONDO:0010664 "ICD10CM:Q87.8" MONDO:0010664 "SCTID:702416008" MONDO:0010664 "Orphanet:3063" -MONDO:0010664 "ICD10:Q87.8" MONDO:0010664 "GARD:0005615" MONDO:0020041 "UMLS:CN227739" MONDO:0020041 "Orphanet:98086" +MONDO:0011059 "ICD10CM:Q04.2" MONDO:0011059 "GARD:0002454" MONDO:0011059 "OMIM:601370" MONDO:0011059 "Orphanet:2163" -MONDO:0011059 "ICD10:Q04.2" MONDO:0011059 "SCTID:715434005" MONDO:0011059 "UMLS:C1832424" MONDO:0011059 "MESH:C537684" MONDO:0013028 "MESH:C538234" MONDO:0013028 "Orphanet:45" +MONDO:0013028 "ICD10CM:G71.3" MONDO:0013028 "SCTID:9105005" -MONDO:0013028 "ICD10:G71.3" MONDO:0013028 "ICD9:277.2" MONDO:0013028 "OMIM:612874" MONDO:0013028 "OMIM:615511" @@ -64954,7 +63348,7 @@ MONDO:0004053 "NCIT:C40293" MONDO:0004053 "UMLS:C1511052" MONDO:0016248 "Orphanet:213517" MONDO:0016248 "UMLS:CN201036" -MONDO:0016248 "ICD10:C56" +MONDO:0016248 "ICD10CM:C56" MONDO:0000993 "ONCOTREE:PRSC" MONDO:0000993 "SCTID:399590005" MONDO:0000993 "UMLS:C1302530" @@ -64971,7 +63365,7 @@ MONDO:0040728 "SCTID:111835002" MONDO:0023179 "GARD:0002367" MONDO:0011246 "UMLS:C1865233" MONDO:0011246 "OMIM:602541" -MONDO:0011246 "ICD10:G71.2" +MONDO:0011246 "ICD10CM:G71.2" MONDO:0011246 "Orphanet:280671" MONDO:0011246 "MESH:C566527" MONDO:0011246 "GARD:0010317" @@ -64990,7 +63384,6 @@ MONDO:0005494 "DOID:0060081" MONDO:0005494 "UMLS:C3539878" MONDO:0005494 "SCTID:706970001" MONDO:0017689 "UMLS:C0342744" -MONDO:0017689 "ICD10:E74.1" MONDO:0017689 "Orphanet:308463" MONDO:0017689 "SCTID:39452003" NCBITaxon:775 "PMID:2592342" @@ -64998,22 +63391,20 @@ NCBITaxon:775 "PMID:8240958" NCBITaxon:775 "PMID:11760958" NCBITaxon:775 "GC_ID:11" MONDO:0013249 "Orphanet:90636" -MONDO:0013249 "ICD10:H90.3" MONDO:0013249 "DOID:0110529" MONDO:0013249 "OMIM:613391" MONDO:0013249 "UMLS:C3150654" -MONDO:0008870 "ICD10:Q87.1" MONDO:0008870 "Orphanet:2617" MONDO:0008870 "GARD:0000895" MONDO:0008870 "UMLS:C1859468" MONDO:0008870 "MESH:C535448" MONDO:0008870 "OMIM:210700" +MONDO:0008870 "ICD10CM:Q87.1" HP:0000405 "SNOMEDCT_US:44057004" HP:0000405 "UMLS:C0018777" HP:0000405 "MSH:D006314" MONDO:0013425 "DOID:0110353" MONDO:0013425 "UMLS:C3151086" -MONDO:0013425 "ICD10:H35.5" MONDO:0013425 "GARD:0010404" MONDO:0013425 "MESH:C566718" MONDO:0013425 "OMIM:613794" @@ -65032,8 +63423,8 @@ MONDO:0007959 "NCIT:C3222" MONDO:0007959 "ICDO:9470/3" MONDO:0007959 "MESH:D008527" MONDO:0007959 "ONCOTREE:MBL" -MONDO:0007959 "ICD10:C71.6" MONDO:0007959 "Orphanet:251863" +MONDO:0007959 "ICD10CM:C71.6" MONDO:0007959 "MedDRA:10027107" MONDO:0007959 "Orphanet:251858" MONDO:0007959 "OMIM:155255" @@ -65057,10 +63448,10 @@ MONDO:0011467 "UMLS:C1858340" MONDO:0011467 "OMIM:604474" MONDO:0017017 "UMLS:CN202329" MONDO:0017017 "Orphanet:264683" -MONDO:0015705 "ICD10:G71.2" MONDO:0015705 "GARD:0012718" MONDO:0015705 "UMLS:C3645536" MONDO:0015705 "OMIM:255200" +MONDO:0015705 "ICD10CM:G71.2" MONDO:0015705 "SCTID:240081004" MONDO:0015705 "Orphanet:169186" MONDO:0015705 "OMIM:615959" @@ -65068,24 +63459,24 @@ MONDO:0015705 "DOID:0111216" MONDO:0018130 "Orphanet:352649" MONDO:0018130 "SCTID:717942003" MONDO:0018130 "UMLS:CN204508" -MONDO:0018130 "ICD10:G25.8" +MONDO:0018130 "ICD10CM:G25.8" MONDO:0018130 "UMLS:C4303546" MONDO:0008241 "OMIM:172290" MONDO:0009452 "DOID:0060356" MONDO:0009452 "OMIM:242840" MONDO:0009452 "Orphanet:1493" +MONDO:0009452 "ICD10CM:Q87.8" MONDO:0009452 "SCTID:719824001" MONDO:0009452 "MESH:C535566" MONDO:0009452 "NCIT:C138174" MONDO:0009452 "GARD:0000448" MONDO:0009452 "UMLS:C1855772" -MONDO:0009452 "ICD10:Q87.8" MONDO:0002660 "UMLS:C0005742" MONDO:0002660 "HP:0010749" MONDO:0002660 "ICD9:374.34" -MONDO:0002660 "ICD10:H02.3" MONDO:0002660 "DOID:348" MONDO:0002660 "SCTID:47704002" +MONDO:0002660 "ICD10CM:H02.3" MONDO:0020731 "NCIT:C34396" MONDO:0020731 "SCTID:40610006" MONDO:0020731 "UMLS:C0003723" @@ -65098,17 +63489,17 @@ MONDO:0015059 "NCIT:C85025" MONDO:0015059 "MedDRA:10029542" MONDO:0015059 "GARD:0010793" MONDO:0015059 "Orphanet:100070" -MONDO:0015059 "ICD10:G31.0" MONDO:0015059 "OMIM:607485" MONDO:0015059 "MESH:D057178" MONDO:0015059 "SCTID:716281000" +MONDO:0015059 "ICD10CM:G31.0" MONDO:0015059 "OMIM:600274" HP:0002450 "UMLS:C4025707" NCBITaxon:6774 "GC_ID:1" -MONDO:0018458 "ICD10:E83.5" MONDO:0018458 "OMIM:145980" MONDO:0018458 "DOID:0060699" MONDO:0018458 "SCTID:237885008" +MONDO:0018458 "ICD10CM:E83.5" MONDO:0018458 "GARD:0010828" MONDO:0018458 "UMLS:C1809471" MONDO:0018458 "NCIT:C123262" @@ -65136,8 +63527,8 @@ MONDO:0005086 "NCIT:C9385" MONDO:0005086 "GARD:0013215" MONDO:0005086 "ICD9:189.0" MONDO:0017238 "OMIM:613977" +MONDO:0017238 "ICD10CM:D58.2" MONDO:0017238 "Orphanet:280615" -MONDO:0017238 "ICD10:D58.2" MONDO:0011990 "MESH:C564274" MONDO:0011990 "OMIM:608217" MONDO:0011990 "UMLS:C1842382" @@ -65145,50 +63536,49 @@ MONDO:0011990 "Orphanet:1949" NCBITaxon:9963 "GC_ID:1" CL:0001031 "BTO:0004278" MONDO:0017750 "Orphanet:309568" -MONDO:0017750 "ICD10:E77.8" +MONDO:0017750 "ICD10CM:E77.8" MONDO:0006488 "UMLS:C1512974" MONDO:0006488 "UMLS:C1519918" MONDO:0006488 "DOID:136" MONDO:0006488 "EFO:1000618" MONDO:0006488 "NCIT:C40278" +MONDO:0019876 "ICD10CM:Q99.8" MONDO:0019876 "Orphanet:96092" -MONDO:0019876 "UMLS:CN206812" -MONDO:0019876 "ICD10:Q99.8" MONDO:0019876 "SCTID:718188007" +MONDO:0019876 "UMLS:CN206812" NCBITaxon:42230 "GC_ID:1" MONDO:0013310 "Orphanet:95699" MONDO:0013310 "SCTID:715733000" +MONDO:0013310 "ICD10CM:E25.0" MONDO:0013310 "OMIM:613571" MONDO:0013310 "GARD:0012664" MONDO:0013310 "Orphanet:418" -MONDO:0013310 "ICD10:E25.0" MONDO:0060496 "OMIM:617519" MONDO:0060496 "UMLS:C4479603" MONDO:0018679 "Orphanet:451602" -MONDO:0018679 "ICD10:L98.6" +MONDO:0018679 "ICD10CM:L98.6" MONDO:0009864 "MESH:C564890" MONDO:0009864 "GARD:0004279" MONDO:0009864 "Orphanet:2880" MONDO:0009864 "Orphanet:79317" MONDO:0009864 "UMLS:C1849821" MONDO:0009864 "OMIM:261650" -MONDO:0011718 "ICD10:Q34.8" MONDO:0011718 "MESH:C535277" MONDO:0011718 "Orphanet:244" MONDO:0011718 "DOID:0110626" MONDO:0011718 "OMIM:606763" MONDO:0011718 "UMLS:C1847554" MONDO:0017878 "UMLS:C4274434" -MONDO:0017878 "ICD10:A96.8" MONDO:0017878 "Orphanet:319244" MONDO:0017878 "SCTID:716584007" +MONDO:0017878 "ICD10CM:A96.8" MONDO:0017878 "UMLS:CN203927" MONDO:0017878 "DOID:0050198" MONDO:0018824 "UMLS:C0085652" MONDO:0018824 "ICD9:686.01" MONDO:0018824 "EFO:0006835" MONDO:0018824 "SCTID:74578003" -MONDO:0018824 "ICD10:L88" +MONDO:0018824 "ICD10CM:L88" MONDO:0018824 "MedDRA:10037635" MONDO:0018824 "MESH:D017511" MONDO:0018824 "Orphanet:48104" @@ -65198,7 +63588,7 @@ CL:0000817 "CALOHA:TS-0819" CL:0000817 "BTO:0001133" MONDO:0009044 "DOID:3803" MONDO:0009044 "UMLS:C0010324" -MONDO:0009044 "ICD10:E80.5" +MONDO:0009044 "ICD10CM:E80.5" MONDO:0009044 "NCIT:C84656" MONDO:0009044 "Orphanet:205" MONDO:0009044 "MedDRA:10011386" @@ -65222,18 +63612,18 @@ MONDO:0004543 "NCIT:C39932" MONDO:0004543 "UMLS:C1515304" MONDO:0004543 "DOID:8362" MONDO:0020358 "Orphanet:98947" -MONDO:0020358 "ICD10:Q14.2" +MONDO:0020358 "ICD10CM:Q14.2" MONDO:0020358 "GARD:0001438" MONDO:0010469 "UMLS:C3550875" MONDO:0010469 "OMIM:300872" -MONDO:0009231 "ICD10:Q73.8" MONDO:0009231 "SCTID:715474004" MONDO:0009231 "OMIM:228900" MONDO:0009231 "Orphanet:2639" MONDO:0009231 "KEGG:H00467" MONDO:0009231 "DOID:0050790" -MONDO:0009231 "GARD:0009879" MONDO:0009231 "UMLS:C1856738" +MONDO:0009231 "GARD:0009879" +MONDO:0009231 "ICD10CM:Q73.8" MONDO:0009231 "OMIM:609441" MONDO:0009231 "MESH:C537931" MONDO:0003346 "DOID:525" @@ -65246,11 +63636,11 @@ MONDO:0003736 "NCIT:C35492" MONDO:0003736 "DOID:602" MONDO:0003736 "EFO:1001879" MONDO:0011582 "Orphanet:401869" +MONDO:0011582 "ICD10CM:E88.8" MONDO:0011582 "OMIM:605711" MONDO:0011582 "UMLS:CN226135" MONDO:0011582 "DOID:0080133" MONDO:0011582 "UMLS:C3276432" -MONDO:0011582 "ICD10:E88.8" MONDO:0011582 "Orphanet:289573" MONDO:0008034 "MESH:C563554" MONDO:0008034 "UMLS:C1834652" @@ -65262,16 +63652,16 @@ MONDO:0011411 "UMLS:C1858695" MONDO:0011411 "OMIM:604213" MONDO:0011411 "Orphanet:314597" MONDO:0006722 "SCTID:30265004" -MONDO:0006722 "ICD10:K00.3" MONDO:0006722 "NCIT:C85059" MONDO:0006722 "DOID:13711" MONDO:0006722 "EFO:1000892" MONDO:0006722 "UMLS:C0026618" +MONDO:0006722 "ICD10CM:K00.3" MONDO:0006722 "ICD9:520.3" MONDO:0006722 "MESH:D009050" MONDO:0006722 "MedDRA:10016819" MONDO:0023910 "OMIMPS:212720" -MONDO:0017080 "ICD10:Q01.2" +MONDO:0017080 "ICD10CM:Q01.2" MONDO:0017080 "SCTID:42376006" MONDO:0017080 "Orphanet:268823" MONDO:0004730 "UMLS:C0037822" @@ -65290,7 +63680,6 @@ MONDO:0000481 "DOID:0050840" MONDO:0014296 "OMIM:615663" MONDO:0014296 "DOID:0110719" MONDO:0014296 "UMLS:C3810265" -MONDO:0014296 "ICD10:Q87.0" MONDO:0014296 "Orphanet:2510" MONDO:0012984 "OMIM:612674" MONDO:0012984 "UMLS:C2675204" @@ -65313,7 +63702,7 @@ MONDO:0020733 "UMLS:C3714899" MONDO:0020733 "OMIM:185800" MONDO:0020733 "Orphanet:3250" MONDO:0019397 "Orphanet:84096" -MONDO:0019397 "ICD10:E75.2" +MONDO:0019397 "ICD10CM:E75.2" MONDO:0022746 "UMLS:CN037021" MONDO:0022746 "MESH:C535450" MONDO:0014967 "OMIM:617205" @@ -65328,12 +63717,11 @@ MONDO:0008675 "NCIT:C98931" MONDO:0008675 "DOID:0111604" MONDO:0008675 "UMLS:C0265224" MONDO:0008675 "SCTID:52616002" -MONDO:0008675 "ICD10:Q87.0" MONDO:0008675 "OMIM:193700" +MONDO:0018740 "ICD10CM:D74.8" MONDO:0018740 "Orphanet:464453" MONDO:0018740 "UMLS:C0271905" MONDO:0018740 "NCIT:C101045" -MONDO:0018740 "ICD10:D74.8" MONDO:0018740 "SCTID:191390009" MONDO:0001575 "ICD9:098.37" MONDO:0001575 "SCTID:53529004" @@ -65345,7 +63733,7 @@ MONDO:0007478 "UMLS:C0265291" MONDO:0007478 "Orphanet:2333" MONDO:0007478 "NCIT:C130993" MONDO:0007478 "UMLS:CN031291" -MONDO:0007478 "ICD10:Q87.1" +MONDO:0007478 "ICD10CM:Q87.1" MONDO:0007478 "GARD:0000083" MONDO:0014343 "UMLS:C4014294" MONDO:0014343 "OMIM:615777" @@ -65354,7 +63742,6 @@ MONDO:0014343 "UMLS:C3550876" MONDO:0004951 "UMLS:CN282826" MONDO:0004951 "NCIT:C14220" MONDO:0004951 "OMIM:609423" -MONDO:0021061 "ICD10:Q85.02" MONDO:0021061 "UMLS:C0162678" MONDO:0021061 "SCTID:92503002" MONDO:0021061 "NCIT:C6727" @@ -65364,16 +63751,15 @@ MONDO:0021061 "GARD:0010420" MONDO:0021061 "ICD9:237.71" MONDO:0021061 "UMLS:C0027832" MONDO:0021061 "DOID:8712" -MONDO:0021061 "ICD10:Q85.01" +MONDO:0021061 "ICD10CM:Q85.02" MONDO:0021061 "SCTID:92824003" MONDO:0021061 "MESH:D017253" -MONDO:0021061 "ICD10:Q85.00" MONDO:0021061 "ICD9:237.72" MONDO:0021061 "SCTID:19133005" MONDO:0021061 "ICD9:237.70" MONDO:0001989 "ICD9:529.4" MONDO:0001989 "DOID:1453" -MONDO:0001989 "ICD10:K14.4" +MONDO:0001989 "ICD10CM:K14.4" MONDO:0001989 "UMLS:C0155964" MONDO:0001989 "SCTID:9491003" MONDO:0035009 "Orphanet:583861" @@ -65398,30 +63784,29 @@ MONDO:0019468 "NCIT:C70649" MONDO:0019468 "UMLS:C0023494" MONDO:0019468 "NCIT:C4752" MONDO:0019468 "EFO:1000560" -MONDO:0019468 "ICD10:C91.6" NCBITaxon:6282 "GC_ID:1" MONDO:0015571 "MESH:C537647" MONDO:0015571 "Orphanet:1627" +MONDO:0015571 "ICD10CM:Q93.5" MONDO:0015571 "SCTID:721158009" -MONDO:0015571 "ICD10:Q93.5" MONDO:0008558 "ICD9:287.31" -MONDO:0008558 "ICD10:D69.3" MONDO:0008558 "EFO:0007160" MONDO:0008558 "OMIM:188030" +MONDO:0008558 "ICD10CM:D69.3" MONDO:0008558 "Orphanet:3002" MONDO:0008558 "NCIT:C3446" MONDO:0008558 "MedDRA:10021245" MONDO:0008558 "DOID:8924" MONDO:0008558 "GARD:0005194" MONDO:0018623 "SCTID:18260003" -MONDO:0018623 "ICD10:F53.1" +MONDO:0018623 "ICD10CM:F53" MONDO:0018623 "Orphanet:443173" -MONDO:0018623 "ICD10:F53" MONDO:0018623 "ICD9:648.44" +MONDO:0018623 "ICD10CM:F53.1" MONDO:0009504 "SCTID:715338007" MONDO:0009504 "MESH:C566885" MONDO:0009504 "DOID:0080128" -MONDO:0009504 "ICD10:E71.1" +MONDO:0009504 "ICD10CM:E71.1" MONDO:0009504 "GARD:0003163" MONDO:0009504 "OMIM:245400" MONDO:0009504 "Orphanet:17" @@ -65432,38 +63817,39 @@ MONDO:0014530 "OMIM:616204" MONDO:0014530 "Orphanet:363432" MONDO:0014530 "Orphanet:363429" MONDO:0014530 "DOID:0080042" -MONDO:0014530 "ICD10:G11.1" MONDO:0014530 "UMLS:C4015505" +MONDO:0014530 "ICD10CM:G11.1" MONDO:0009714 "Orphanet:289380" MONDO:0009714 "MESH:C564968" MONDO:0009714 "OMIM:255600" +MONDO:0009714 "ICD10CM:G71.8" MONDO:0009714 "SCTID:763895001" MONDO:0009714 "MedDRA:10064584" -MONDO:0009714 "ICD10:G71.8" NCBITaxon:1781 "GC_ID:11" NCBITaxon:1781 "PMID:12089250" MONDO:0010926 "DOID:0060702" MONDO:0010926 "MESH:C537147" MONDO:0010926 "GARD:0002878" +MONDO:0010926 "ICD10CM:E83.5" MONDO:0010926 "UMLS:C1833372" MONDO:0010926 "Orphanet:101050" MONDO:0010926 "Orphanet:405" -MONDO:0010926 "ICD10:E83.5" MONDO:0010926 "OMIM:600740" MONDO:0005533 "UMLS:C0860168" MONDO:0005533 "EFO:0005623" MONDO:0005533 "SCTID:373639002" MONDO:0005533 "ICD9:558.9" +MONDO:0017728 "ICD10CM:E75.0" MONDO:0017728 "Orphanet:309239" MONDO:0017728 "SCTID:238024005" -MONDO:0017728 "ICD10:E75.0" MONDO:0020137 "Orphanet:98535" -MONDO:0020137 "ICD10:G31.0" -MONDO:0019655 "ICD10:N04.1" +MONDO:0020137 "ICD10CM:G31.0" MONDO:0019655 "UMLS:CN206528" MONDO:0019655 "Orphanet:93218" +MONDO:0019655 "ICD10CM:N04.1" MONDO:0009162 "MedDRA:10008724" MONDO:0009162 "NCIT:C84684" +MONDO:0009162 "ICD10CM:Q77.6" MONDO:0009162 "MESH:D004613" MONDO:0009162 "ICD9:756.55" MONDO:0009162 "Orphanet:289" @@ -65471,7 +63857,6 @@ MONDO:0009162 "OMIM:225500" MONDO:0009162 "SCTID:62501005" MONDO:0009162 "UMLS:C0013903" MONDO:0009162 "GARD:0001301" -MONDO:0009162 "ICD10:Q77.6" MONDO:0009162 "UMLS:CN239258" MONDO:0009162 "DOID:12714" MONDO:0009162 "OMIM:617088" @@ -65518,15 +63903,14 @@ HP:0000657 "SNOMEDCT_US:193662007" MONDO:0008267 "DOID:0060375" MONDO:0008267 "OMIM:174300" MONDO:0008267 "GARD:0004120" -MONDO:0008267 "ICD10:Q87.0" +MONDO:0008267 "ICD10CM:Q87.0" MONDO:0008267 "MESH:C557819" MONDO:0008267 "Orphanet:2919" MONDO:0008267 "UMLS:C1868118" MONDO:0008267 "SCTID:722105002" MONDO:0018332 "Orphanet:394529" MONDO:0018332 "UMLS:CN205004" -MONDO:0018332 "ICD10:E71.3" -MONDO:0012815 "ICD10:H35.0" +MONDO:0018332 "ICD10CM:E71.3" MONDO:0012815 "SCTID:711482008" MONDO:0012815 "UMLS:CN282828" MONDO:0012815 "Orphanet:313838" @@ -65534,13 +63918,13 @@ MONDO:0012815 "OMIM:617341" MONDO:0012815 "ICD9:348.89" MONDO:0012815 "OMIMPS:612199" MONDO:0012815 "OMIM:612199" +MONDO:0012815 "ICD10CM:H35.0" MONDO:0012815 "MESH:C567401" -MONDO:0017915 "ICD10:G11.4" MONDO:0017915 "Orphanet:320346" +MONDO:0017915 "ICD10CM:G11.4" MONDO:0001167 "MESH:D002547" MONDO:0001167 "DOID:10965" MONDO:0001167 "SCTID:281411007" -MONDO:0001167 "ICD10:G80.1" MONDO:0001167 "UMLS:C0270804" MONDO:0001167 "ICD9:343.0" MONDO:0001167 "MESH:C537945" @@ -65562,21 +63946,19 @@ MONDO:0013974 "OMIM:614928" MONDO:0013974 "DOID:0111659" MONDO:0013974 "UMLS:C3554111" MONDO:0001050 "SCTID:94146005" +MONDO:0001050 "ICD10CM:H60.2" MONDO:0001050 "UMLS:C0155395" MONDO:0001050 "DOID:10516" MONDO:0001050 "ICD9:380.14" -MONDO:0001050 "ICD10:H60.2" -MONDO:0001050 "ICD10:H60.20" MONDO:0015699 "Orphanet:169147" MONDO:0015699 "OMIM:216950" MONDO:0015699 "OMIM:613652" -MONDO:0015699 "ICD10:D84.1" +MONDO:0015699 "ICD10CM:D84.1" MONDO:0015699 "OMIM:614380" MONDO:0015699 "OMIM:217000" MONDO:0015699 "OMIM:614379" MONDO:0015699 "OMIM:613783" MONDO:0019150 "OMIM:615248" -MONDO:0019150 "ICD10:I42.5" MONDO:0019150 "UMLS:CN205687" MONDO:0019150 "OMIM:609578" MONDO:0019150 "OMIM:115210" @@ -65648,14 +64030,14 @@ MONDO:0015003 "Orphanet:508093" MONDO:0015003 "OMIM:617282" MONDO:0015003 "UMLS:C4310634" MONDO:0016561 "Orphanet:238769" +MONDO:0016561 "ICD10CM:Q93.5" MONDO:0016561 "UMLS:C4304540" MONDO:0016561 "UMLS:CN201644" MONDO:0016561 "SCTID:719649004" -MONDO:0016561 "ICD10:Q93.5" MONDO:0016561 "GARD:0010943" MONDO:0009895 "MESH:C564880" -MONDO:0009895 "ICD10:Q87.2" MONDO:0009895 "OMIM:263540" +MONDO:0009895 "ICD10CM:Q87.2" MONDO:0009895 "UMLS:C1849732" MONDO:0009895 "Orphanet:2916" MONDO:0005299 "NCIT:C78394" @@ -65673,7 +64055,6 @@ MONDO:0014461 "OMIM:616030" MONDO:0014461 "DOID:0090081" MONDO:0014461 "UMLS:C4014988" MONDO:0014461 "Orphanet:478" -MONDO:0014461 "ICD10:E23.0" MONDO:0007328 "MESH:C566124" MONDO:0007328 "OMIM:118865" MONDO:0007328 "UMLS:C1861558" @@ -65688,49 +64069,49 @@ MONDO:0014969 "UMLS:C1291373" NCBITaxon:5500 "GC_ID:1" MONDO:0006527 "ICD9:705.0" MONDO:0006527 "OMIM:206600" -MONDO:0006527 "ICD10:L74.4" MONDO:0006527 "MESH:D007007" MONDO:0006527 "EFO:1000670" MONDO:0006527 "SCTID:39659002" MONDO:0006527 "NCIT:C34385" +MONDO:0006527 "ICD10CM:L74.4" MONDO:0006527 "DOID:11156" +MONDO:0010529 "ICD10CM:G11.1" MONDO:0010529 "Orphanet:85297" MONDO:0010529 "UMLS:C1844936" MONDO:0010529 "GARD:0009981" MONDO:0010529 "OMIM:301790" -MONDO:0010529 "ICD10:G11.1" MONDO:0010529 "SCTID:719817002" MONDO:0010529 "MESH:C537315" MONDO:0010705 "OMIM:311350" MONDO:0018718 "UMLS:CN242155" MONDO:0018718 "Orphanet:458827" MONDO:0000798 "DOID:0060523" +MONDO:0009903 "MESH:C537680" +MONDO:0009903 "OMIM:263750" +MONDO:0009903 "ICD10CM:Q75.4" +MONDO:0009903 "GARD:0008410" MONDO:0009903 "Orphanet:246" MONDO:0009903 "ICD9:759.89" -MONDO:0009903 "SCTID:66038001" -MONDO:0009903 "OMIM:263750" MONDO:0009903 "DOID:0111259" -MONDO:0009903 "GARD:0008410" -MONDO:0009903 "MESH:C537680" -MONDO:0009903 "ICD10:Q75.4" MONDO:0009903 "UMLS:C0265257" +MONDO:0009903 "SCTID:66038001" MONDO:0016444 "SCTID:238829001" -MONDO:0016444 "ICD10:L90.1" -MONDO:0016444 "ICD10:L90.2" +MONDO:0016444 "ICD10CM:L90.1" MONDO:0016444 "MESH:D057088" MONDO:0016444 "UMLS:C0406550" +MONDO:0016444 "ICD10CM:L90.2" MONDO:0016444 "Orphanet:228272" MONDO:0013566 "OMIM:614083" MONDO:0013566 "DOID:0111082" MONDO:0056821 "SCTID:68409003" MONDO:0056821 "GARD:0005961" MONDO:0008840 "GARD:0005862" +MONDO:0008840 "ICD10CM:G11.3" MONDO:0008840 "MESH:D001260" MONDO:0008840 "OMIM:208910" MONDO:0008840 "NCIT:C2887" MONDO:0008840 "ICD9:334.8" MONDO:0008840 "DOID:12704" -MONDO:0008840 "ICD10:G11.3" MONDO:0008840 "UMLS:C0004135" MONDO:0008840 "MedDRA:10003594" MONDO:0008840 "SCTID:68504005" @@ -65739,8 +64120,8 @@ MONDO:0008840 "OMIM:208900" MONDO:0007990 "OMIM:156610" MONDO:0007990 "GARD:0003589" MONDO:0007990 "MESH:C537575" -MONDO:0007990 "ICD10:Q82.8" MONDO:0007990 "OMIM:616734" +MONDO:0007990 "ICD10CM:Q82.8" MONDO:0007990 "Orphanet:2505" MONDO:0007990 "UMLS:C0473586" HP:0005406 "UMLS:C1835686" @@ -65752,21 +64133,18 @@ MONDO:0006714 "EFO:1000881" MONDO:0006714 "GARD:0006200" MONDO:0006714 "UMLS:C0010051" MONDO:0006714 "ICD9:414.11" -MONDO:0006714 "ICD10:I25.41" MONDO:0006714 "MESH:D003323" MONDO:0006714 "SCTID:50570003" MONDO:0006714 "MedDRA:10002348" -MONDO:0006714 "ICD10:I25.4" MONDO:0006714 "HP:0030882" CL:0000104 "FMA:67287" MONDO:0012164 "SCTID:722461004" MONDO:0012164 "OMIM:608978" -MONDO:0012164 "ICD10:Q87.8" MONDO:0012164 "UMLS:C1837026" MONDO:0012164 "Orphanet:3097" MONDO:0012164 "GARD:0003432" +MONDO:0012164 "ICD10CM:Q87.8" MONDO:0013753 "UMLS:C4304674" -MONDO:0013753 "ICD10:G60.0" MONDO:0013753 "OMIM:614436" MONDO:0013753 "UMLS:C1837805" MONDO:0013753 "UMLS:C3280797" @@ -65777,6 +64155,7 @@ MONDO:0013753 "Orphanet:300319" MONDO:0013753 "SCTID:719511005" MONDO:0013753 "OMIM:608591" MONDO:0013753 "Orphanet:99941" +MONDO:0013753 "ICD10CM:G60.0" NCBITaxon:418103 "GC_ID:1" MONDO:0014836 "OMIM:616924" MONDO:0014836 "DOID:0110180" @@ -65786,14 +64165,14 @@ MONDO:0004346 "NCIT:C41619" MONDO:0004346 "UMLS:C1519321" MONDO:0020139 "Orphanet:98539" MONDO:0016689 "ICDO:9411/3" -MONDO:0016689 "ICD10:C71.9" +MONDO:0016689 "ICD10CM:C71.9" MONDO:0016689 "UMLS:C0334581" MONDO:0016689 "MESH:D001254" MONDO:0016689 "Orphanet:251604" MONDO:0016689 "NCIT:C4321" MONDO:0016689 "DOID:7005" +MONDO:0017507 "ICD10CM:Q71.3" MONDO:0017507 "Orphanet:295112" -MONDO:0017507 "ICD10:Q71.3" MONDO:0004756 "SCTID:126670003" MONDO:0004756 "NCIT:C4413" MONDO:0004756 "DOID:9310" @@ -65809,18 +64188,18 @@ MONDO:0001285 "UMLS:C0156345" MONDO:0001285 "ICD9:617.3" MONDO:0001285 "SCTID:198251001" MONDO:0001285 "DOID:11429" -MONDO:0001285 "ICD10:N80.3" +MONDO:0001285 "ICD10CM:N80.3" MONDO:0012351 "MESH:C565223" MONDO:0012351 "Orphanet:295187" -MONDO:0012351 "ICD10:Q70.3" MONDO:0012351 "UMLS:C1853294" MONDO:0012351 "Orphanet:93402" +MONDO:0012351 "ICD10CM:Q70.3" MONDO:0012351 "OMIM:609815" MONDO:0011795 "GARD:0000709" MONDO:0011795 "Orphanet:1094" -MONDO:0011795 "ICD10:Q87.8" MONDO:0011795 "SCTID:720494009" MONDO:0011795 "OMIM:607214" +MONDO:0011795 "ICD10CM:Q87.8" MONDO:0019820 "Orphanet:95483" MONDO:0006935 "MESH:D011662" MONDO:0006935 "NCIT:C34961" @@ -65828,12 +64207,11 @@ MONDO:0006935 "SCTID:204370002" MONDO:0006935 "DOID:8861" MONDO:0006935 "EFO:1001137" MONDO:0006935 "ICD9:746.83" -MONDO:0006935 "ICD10:Q24.3" MONDO:0013824 "DOID:0110986" MONDO:0013824 "OMIM:614615" MONDO:0013824 "Orphanet:475" MONDO:0013824 "UMLS:C3553264" -MONDO:0004661 "ICD10:D02.1" +MONDO:0004661 "ICD10CM:D02.1" MONDO:0004661 "NCIT:C3639" MONDO:0004661 "UMLS:C0154070" MONDO:0004661 "ICD9:231.1" @@ -65841,9 +64219,9 @@ MONDO:0004661 "SCTID:92772005" MONDO:0004661 "DOID:8802" MONDO:0005808 "ICD9:077.98" MONDO:0005808 "GARD:0006777" -MONDO:0005808 "ICD10:A74.0" MONDO:0005808 "SCTID:231861005" MONDO:0005808 "NCIT:C116817" +MONDO:0005808 "ICD10CM:A74.0" MONDO:0005808 "DOID:13800" MONDO:0005808 "EFO:0007324" MONDO:0005808 "MESH:D003235" @@ -65851,7 +64229,7 @@ MONDO:0005808 "ICD9:077.0" MONDO:0005808 "UMLS:C0009770" MONDO:0015549 "Orphanet:158300" MONDO:0015549 "UMLS:CN199710" -MONDO:0018111 "ICD10:A40.3" +MONDO:0018111 "ICD10CM:A40.3" MONDO:0018111 "Orphanet:35065" MONDO:0004639 "MESH:D020345" MONDO:0004639 "SCTID:2707005" @@ -65884,15 +64262,15 @@ MONDO:0010636 "OMIM:308750" MONDO:0010636 "UMLS:C1839911" MONDO:0010636 "MESH:C536873" NCBITaxon:1351 "GC_ID:11" -MONDO:0015736 "ICD10:G71.2" MONDO:0015736 "Orphanet:171433" MONDO:0015736 "OMIM:161800" MONDO:0015736 "GARD:0012823" MONDO:0015736 "OMIM:256030" -MONDO:0015736 "OMIM:609284" MONDO:0015736 "OMIM:615731" +MONDO:0015736 "OMIM:609284" +MONDO:0015736 "ICD10CM:G71.2" MONDO:0018996 "DOID:0050755" -MONDO:0018996 "ICD10:G60.2" +MONDO:0018996 "ICD10CM:G60.2" MONDO:0018996 "UMLS:C1853761" MONDO:0018996 "UMLS:CN205441" MONDO:0018996 "GARD:0012860" @@ -65911,12 +64289,12 @@ MONDO:0003903 "UMLS:C1511107" MONDO:0003903 "DOID:6505" MONDO:0003903 "NCIT:C40280" MONDO:0009706 "SCTID:699268002" -MONDO:0009706 "ICD10:G71.3" MONDO:0009706 "ICD9:259.8" MONDO:0009706 "MESH:C564972" MONDO:0009706 "Orphanet:43115" MONDO:0009706 "UMLS:C1850718" MONDO:0009706 "OMIM:255125" +MONDO:0009706 "ICD10CM:G71.3" MONDO:0014556 "UMLS:C4225398" MONDO:0014556 "OMIM:616266" MONDO:0014556 "EFO:1001868" @@ -65926,12 +64304,11 @@ MONDO:0005149 "DOID:6432" MONDO:0005149 "NCIT:C3120" MONDO:0005149 "EFO:0001361" MONDO:0005149 "SCTID:70995007" -MONDO:0005149 "ICD10:I27.2" MONDO:0005149 "OMIM:615371" MONDO:0005149 "MESH:D006976" MONDO:0041656 "SCTID:401303003" MONDO:0041656 "EFO:0008585" -MONDO:0007422 "ICD10:Q82.8" +MONDO:0007422 "ICD10CM:Q82.8" MONDO:0007422 "GARD:0003092" MONDO:0007422 "ICD9:757.39" MONDO:0007422 "OMIM:124500" @@ -65949,7 +64326,6 @@ MONDO:0004348 "UMLS:C0154835" MONDO:0004348 "SCTID:84884003" MONDO:0015394 "Orphanet:141118" MONDO:0015394 "SCTID:65455002" -MONDO:0015394 "ICD10:Q01.1" MONDO:0017594 "Orphanet:300842" MONDO:0017594 "NCIT:C171299" MONDO:0017594 "GARD:0010482" @@ -65971,7 +64347,6 @@ MONDO:0023149 "GARD:0011970" MONDO:0023149 "SCTID:65154009" MONDO:0023149 "UMLS:C0275619" MONDO:0002088 "DOID:1726" -MONDO:0002088 "ICD10:H34.82" MONDO:0002088 "NCIT:C35341" MONDO:0002088 "SCTID:65593009" MONDO:0002088 "UMLS:C0271080" @@ -65984,7 +64359,6 @@ MONDO:0011216 "OMIM:602390" MONDO:0014439 "OMIM:615988" MONDO:0014439 "UMLS:C1859569" MONDO:0014439 "GARD:0010210" -MONDO:0014439 "ICD10:Q87.89" MONDO:0014439 "DOID:0110133" MONDO:0014439 "MESH:C565920" MONDO:0005464 "NCIT:C118755" @@ -66001,8 +64375,8 @@ MONDO:0001159 "ICD9:300.14" MONDO:0001159 "NCIT:C94330" MONDO:0001159 "SCTID:31611000" MONDO:0001159 "DOID:10934" +MONDO:0001159 "ICD10CM:F44.81" MONDO:0001159 "MESH:D009105" -MONDO:0001159 "ICD10:F44.81" MONDO:0006410 "ICD9:621.31" MONDO:0006410 "UMLS:C0456483" MONDO:0006410 "NCIT:C35463" @@ -66017,7 +64391,6 @@ MONDO:0005789 "EFO:0007304" MONDO:0005789 "SCTID:707341005" MONDO:0005789 "ICD9:070.52" MONDO:0005789 "Orphanet:402823" -MONDO:0005789 "ICD10:B17.0" MONDO:0005789 "DOID:2047" MONDO:0004535 "NCIT:C6549" MONDO:0004535 "UMLS:C1332987" @@ -66027,30 +64400,29 @@ MONDO:0002101 "UMLS:C1263899" MONDO:0002101 "NCIT:C5827" MONDO:0002101 "ICD9:239.7" MONDO:0002101 "SCTID:126973004" +MONDO:0008004 "ICD10CM:I34.1" MONDO:0008004 "OMIM:157700" MONDO:0008004 "OMIM:610840" MONDO:0008004 "OMIM:607829" MONDO:0008004 "OMIMPS:157700" -MONDO:0008004 "ICD10:I34.1" MONDO:0008004 "GARD:0003687" MONDO:0008004 "Orphanet:741" MONDO:0008004 "SCTID:233858000" MONDO:0017781 "OMIM:616803" MONDO:0017781 "UMLS:CN203731" MONDO:0017781 "Orphanet:313884" -MONDO:0017781 "ICD10:Q93.5" +MONDO:0017781 "ICD10CM:Q93.5" MONDO:0026733 "OMIM:301039" MONDO:0005672 "GARD:0005931" +MONDO:0005672 "ICD10CM:B40" MONDO:0005672 "SCTID:191950004" MONDO:0005672 "UMLS:C0005716" MONDO:0005672 "NCIT:C34429" -MONDO:0005672 "ICD10:B40" MONDO:0005672 "EFO:0007174" MONDO:0005672 "ICD9:116" MONDO:0005672 "MESH:D001759" MONDO:0005672 "DOID:12663" MONDO:0005672 "CSP:1988-4119" -MONDO:0005672 "ICD10:B40.9" MONDO:0005672 "UMLS:C0005717" MONDO:0005672 "ICD9:116.0" MONDO:0020050 "NCIT:C3421" @@ -66078,8 +64450,8 @@ MONDO:0022598 "GARD:0000961" MONDO:0009036 "UMLS:C1857495" MONDO:0009036 "SCTID:720606005" MONDO:0009036 "MESH:C535578" -MONDO:0009036 "ICD10:Q87.8" MONDO:0009036 "OMIM:218450" +MONDO:0009036 "ICD10CM:Q87.8" MONDO:0009036 "GARD:0008586" MONDO:0009036 "Orphanet:2872" MONDO:0000490 "NCIT:C120888" @@ -66096,16 +64468,15 @@ MONDO:0005976 "MESH:D002601" MONDO:0005976 "NCIT:C35055" MONDO:0005976 "DOID:4166" MONDO:0005976 "MedDRA:10062120" -MONDO:0005976 "ICD10:A51.0" MONDO:0005976 "EFO:0007504" MONDO:0014838 "UMLS:C4310788" MONDO:0014838 "OMIM:616938" MONDO:0032621 "OMIM:618238" MONDO:0010172 "Orphanet:3412" MONDO:0010172 "OMIM:314390" -MONDO:0010172 "ICD10:Q87.8" MONDO:0010172 "OMIM:276950" MONDO:0010172 "UMLS:C1848599" +MONDO:0010172 "ICD10CM:Q87.8" MONDO:0010172 "GARD:0000272" MONDO:0043187 "SCTID:86252004" MONDO:0043187 "GARD:0004585" @@ -66116,12 +64487,12 @@ MONDO:0030919 "EFO:0009165" MONDO:0010001 "UMLS:C1849332" MONDO:0010001 "GARD:0000293" MONDO:0010001 "OMIM:268320" -MONDO:0010001 "ICD10:Q87.8" +MONDO:0010001 "ICD10CM:Q87.8" MONDO:0010001 "Orphanet:1806" MONDO:0010001 "MESH:C535865" MONDO:0014031 "UMLS:C3554439" MONDO:0014031 "Orphanet:319671" -MONDO:0014031 "ICD10:Q87.1" +MONDO:0014031 "ICD10CM:Q87.1" MONDO:0014031 "OMIM:615071" HP:0011024 "SNOMEDCT_US:53619000" HP:0011024 "UMLS:C0012242" @@ -66141,24 +64512,22 @@ MONDO:0006580 "Wikipedia:Miliaria" MONDO:0006580 "MESH:D008883" MONDO:0006580 "SCTID:63951004" MONDO:0006580 "EFO:1000734" -MONDO:0006580 "ICD10:L74.3" MONDO:0006580 "NCIT:C34820" MONDO:0006580 "UMLS:C0026113" MONDO:0006580 "DOID:1382" MONDO:0018428 "Orphanet:401923" -MONDO:0018428 "ICD10:Q93.5" MONDO:0018428 "UMLS:CN226140" +MONDO:0018428 "ICD10CM:Q93.5" MONDO:0017800 "Orphanet:314459" -MONDO:0017800 "ICD10:D27" +MONDO:0017800 "ICD10CM:D27" MONDO:0017800 "UMLS:CN203759" MONDO:0013826 "UMLS:C2829265" MONDO:0013826 "OMIM:614617" MONDO:0013826 "Orphanet:90636" MONDO:0013826 "DOID:0110532" -MONDO:0013826 "ICD10:H90.3" +MONDO:0020693 "OMIM:613027" MONDO:0020693 "OMIM:306000" MONDO:0020693 "Orphanet:264580" -MONDO:0020693 "ICD10:E74.0" MONDO:0011574 "UMLS:C1854119" MONDO:0011574 "OMIM:605618" MONDO:0011574 "MESH:C565314" @@ -66167,18 +64536,18 @@ MONDO:0013272 "UMLS:C4304999" MONDO:0013272 "Orphanet:261120" MONDO:0013272 "OMIM:613457" MONDO:0013272 "SCTID:719047001" -MONDO:0013272 "ICD10:Q93.5" +MONDO:0013272 "ICD10CM:Q93.5" MONDO:0013272 "DOID:0060392" MONDO:0013272 "UMLS:C3150707" MONDO:0010886 "UMLS:C2931817" MONDO:0010886 "MESH:C538317" MONDO:0010886 "NCIT:C129021" MONDO:0010886 "SCTID:702357000" -MONDO:0010886 "ICD10:Q93.5" MONDO:0010886 "ICD9:758.39" MONDO:0010886 "OMIM:600430" MONDO:0010886 "DOID:0111704" MONDO:0010886 "Orphanet:1001" +MONDO:0010886 "ICD10CM:Q93.5" MONDO:0010886 "GARD:0010202" MONDO:0011960 "DOID:0070087" MONDO:0011960 "OMIM:608078" @@ -66201,8 +64570,8 @@ MONDO:0006779 "UMLS:C0018789" MONDO:0006779 "SCTID:65340007" MONDO:0006779 "MedDRA:10002350" MONDO:0006779 "EFO:1000959" -MONDO:0006779 "ICD10:I25.3" MONDO:0006779 "ICD9:414.10" +MONDO:0006779 "ICD10CM:I25.3" HP:0012647 "UMLS:C4022805" MONDO:0013389 "GARD:0013318" MONDO:0013389 "UMLS:C3150988" @@ -66210,17 +64579,17 @@ MONDO:0013389 "Orphanet:293181" MONDO:0013389 "Orphanet:3451" MONDO:0013389 "DOID:0080459" MONDO:0013389 "OMIM:613722" +MONDO:0009780 "ICD10CM:Q87.8" MONDO:0009780 "SCTID:719408007" MONDO:0009780 "Orphanet:2736" MONDO:0009780 "OMIM:258320" MONDO:0009780 "GARD:0004079" MONDO:0009780 "UMLS:C1850317" MONDO:0009780 "MESH:C537747" -MONDO:0009780 "ICD10:Q87.8" -MONDO:0014335 "ICD10:G98" MONDO:0014335 "UMLS:C4014239" MONDO:0014335 "Orphanet:404437" MONDO:0014335 "OMIM:615760" +MONDO:0014335 "ICD10CM:G98" MONDO:0015901 "Orphanet:181422" MONDO:0032623 "OMIM:618240" MONDO:0000742 "DOID:0060314" @@ -66228,52 +64597,50 @@ MONDO:0000742 "SCTID:95892003" CL:0000098 "BTO:0004301" MONDO:0011218 "MESH:C536273" MONDO:0011218 "UMLS:C1835851" +MONDO:0011218 "ICD10CM:Q80.8" MONDO:0011218 "DOID:0060720" MONDO:0011218 "OMIM:602400" MONDO:0011218 "GARD:0010116" MONDO:0011218 "Orphanet:91132" -MONDO:0011218 "ICD10:Q80.8" MONDO:0016318 "MedDRA:10036807" MONDO:0016318 "UMLS:C0023524" MONDO:0016318 "GARD:0007468" MONDO:0016318 "Orphanet:217260" MONDO:0016318 "EFO:0007455" -MONDO:0016318 "ICD10:A81.2" MONDO:0016318 "SCTID:22255007" MONDO:0016318 "NCIT:C26815" MONDO:0016318 "MESH:D007968" MONDO:0016318 "DOID:643" +MONDO:0016318 "ICD10CM:A81.2" MONDO:0016318 "ICD9:046.3" HP:0100598 "UMLS:C0034063" HP:0100598 "MSH:D011654" HP:0100598 "SNOMEDCT_US:19242006" MONDO:0001480 "UMLS:C0153595" -MONDO:0001480 "ICD10:C62.0" MONDO:0001480 "DOID:12276" MONDO:0001480 "SCTID:188219004" MONDO:0001480 "ICD9:186.0" -MONDO:0015255 "ICD10:Q87.2" MONDO:0015255 "Orphanet:1256" MONDO:0015255 "MESH:C536292" +MONDO:0015255 "ICD10CM:Q87.2" MONDO:0015255 "UMLS:C2931162" MONDO:0015255 "GARD:0003057" MONDO:0030436 "OMIM:619523" MONDO:0032810 "OMIM:618550" MONDO:0015400 "Orphanet:141168" -MONDO:0015400 "ICD10:Q27.3" +MONDO:0015400 "ICD10CM:Q27.3" MONDO:0019142 "DOID:13268" MONDO:0019142 "Orphanet:738" MONDO:0019142 "MESH:D011164" -MONDO:0019142 "ICD10:E80.0" +MONDO:0019142 "ICD10CM:E80.1" MONDO:0019142 "SCTID:371628009" MONDO:0019142 "SCTID:29094004" -MONDO:0019142 "ICD10:E80.1" MONDO:0019142 "UMLS:C0032708" MONDO:0019142 "ICD9:277.1" +MONDO:0019142 "ICD10CM:E80.2" +MONDO:0019142 "ICD10CM:E80.0" MONDO:0019142 "GARD:0010353" MONDO:0019142 "MedDRA:10061356" -MONDO:0019142 "ICD10:E80.2" -MONDO:0019142 "ICD10:E80.20" MONDO:0019142 "MedDRA:10036181" MONDO:0019142 "NCIT:C97096" HP:0010702 "SNOMEDCT_US:129646001" @@ -66307,12 +64674,12 @@ MONDO:0012659 "UMLS:C1969651" MONDO:0012659 "MESH:C566958" CL:0002138 "FMA:68458" CL:0002138 "BTO:0004167" -MONDO:0015610 "ICD10:D61.1" MONDO:0015610 "EFO:0006926" MONDO:0015610 "Orphanet:164823" MONDO:0015610 "SCTID:55907008" +MONDO:0015610 "ICD10CM:D61.1" MONDO:0015610 "UMLS:C0271907" -MONDO:0015610 "ICD10:D61.2" +MONDO:0015610 "ICD10CM:D61.2" MONDO:0007266 "DOID:0110308" MONDO:0007266 "MESH:C566171" MONDO:0007266 "OMIM:115195" @@ -66330,7 +64697,6 @@ MONDO:0004700 "MESH:D010307" MONDO:0004700 "UMLS:C0747273" MONDO:0004700 "SCTID:363379000" MONDO:0004700 "ICD9:142.0" -MONDO:0004700 "ICD10:C07" MONDO:0004700 "NCIT:C3525" MONDO:0004700 "DOID:9036" MONDO:0003503 "UMLS:C1333596" @@ -66340,29 +64706,28 @@ MONDO:0016184 "Orphanet:209030" MONDO:0015895 "UMLS:CN200505" MONDO:0015895 "Orphanet:181402" MONDO:0016841 "GARD:0012492" -MONDO:0016841 "ICD10:Q93.5" +MONDO:0016841 "ICD10CM:Q93.5" MONDO:0016841 "SCTID:719650004" MONDO:0016841 "Orphanet:261295" MONDO:0016841 "UMLS:C4304539" MONDO:0016841 "UMLS:CN202180" NCBITaxon:33392 "GC_ID:1" +MONDO:0019560 "ICD10CM:L93.2" MONDO:0019560 "Orphanet:90283" MONDO:0019560 "GARD:0013003" MONDO:0019560 "NCIT:C117112" MONDO:0019560 "SCTID:200941006" MONDO:0019560 "UMLS:C0406636" -MONDO:0019560 "ICD10:L93.2" MONDO:0019213 "Orphanet:79158" MONDO:0002765 "DOID:3751" MONDO:0002765 "UMLS:C1335424" MONDO:0002765 "NCIT:C6811" +MONDO:0008298 "ICD10CM:Q73.8" MONDO:0008298 "OMIM:176240" MONDO:0008298 "UMLS:C1867924" MONDO:0008298 "GARD:0004065" MONDO:0008298 "Orphanet:2730" MONDO:0008298 "MESH:C566767" -MONDO:0008298 "ICD10:Q73.8" -MONDO:0004054 "ICD10:H04.33" MONDO:0004054 "SCTID:84399007" MONDO:0004054 "ICD9:375.31" MONDO:0004054 "UMLS:C0339130" @@ -66371,11 +64736,11 @@ MONDO:0018363 "Orphanet:398166" MONDO:0018363 "OMIM:227260" MONDO:0018363 "OMIMPS:136500" MONDO:0018363 "OMIM:614973" -MONDO:0018363 "ICD10:Q82.8" +MONDO:0018363 "ICD10CM:Q82.8" MONDO:0018363 "OMIM:136500" MONDO:0018363 "OMIM:614974" MONDO:0011647 "UMLS:C1853555" -MONDO:0011647 "ICD10:G30" +MONDO:0011647 "ICD10CM:G30" MONDO:0011647 "Orphanet:1020" MONDO:0011647 "OMIM:606187" MONDO:0011647 "DOID:0110039" @@ -66387,10 +64752,10 @@ MONDO:0006254 "EFO:1000304" MONDO:0009201 "UMLS:C1856893" MONDO:0009201 "MESH:C565580" MONDO:0009201 "OMIM:227250" -MONDO:0010478 "ICD10:E77.8" MONDO:0010478 "UMLS:C3806688" MONDO:0010478 "DOID:0070265" MONDO:0010478 "Orphanet:356961" +MONDO:0010478 "ICD10CM:E77.8" MONDO:0010478 "OMIM:300896" MONDO:0010478 "GARD:0012403" MONDO:0100342 "Orphanet:182067" @@ -66405,8 +64770,8 @@ MONDO:0100342 "MESH:D005910" MONDO:0100342 "DOID:3070" MONDO:0100342 "SCTID:393564001" MONDO:0022608 "GARD:0001018" +MONDO:0020543 "ICD10CM:C56" MONDO:0020543 "UMLS:CN207444" -MONDO:0020543 "ICD10:C56" MONDO:0020543 "Orphanet:99917" HP:0011458 "UMLS:C0740651" MONDO:0043224 "SCTID:56267009" @@ -66415,29 +64780,28 @@ MONDO:0043224 "NCIT:C34522" MONDO:0043224 "MESH:D015161" MONDO:0006183 "DOID:5728" MONDO:0006183 "Orphanet:71274" -MONDO:0006183 "ICD10:D20.1" +MONDO:0006183 "ICD10CM:D20.1" MONDO:0006183 "GARD:0012843" MONDO:0006183 "NCIT:C3958" MONDO:0006183 "UMLS:C0267785" MONDO:0006183 "SCTID:62557001" MONDO:0006183 "EFO:1000220" -MONDO:0001753 "ICD10:N97.2" MONDO:0001753 "DOID:13589" +MONDO:0001753 "ICD10CM:N97.2" MONDO:0001753 "ICD9:628.3" MONDO:0001753 "SCTID:26899006" MONDO:0007656 "Orphanet:356" -MONDO:0007656 "ICD10:A81.82" MONDO:0007656 "UMLS:C0017495" MONDO:0007656 "SCTID:67155006" MONDO:0007656 "OMIM:137440" MONDO:0007656 "GARD:0007690" -MONDO:0007656 "ICD10:A81.8" MONDO:0007656 "MedDRA:10072075" MONDO:0007656 "DOID:4249" +MONDO:0007656 "ICD10CM:A81.82" MONDO:0007656 "ICD9:046.71" MONDO:0007656 "NCIT:C84727" +MONDO:0007656 "ICD10CM:A81.8" MONDO:0007656 "MESH:C535800" -MONDO:0010888 "ICD10:N80.0" MONDO:0010888 "SCTID:237115002" MONDO:0010888 "GARD:0008156" MONDO:0010888 "ICD9:617.0" @@ -66446,6 +64810,7 @@ MONDO:0010888 "OMIM:600458" MONDO:0010888 "MESH:D062788" MONDO:0010888 "NCIT:C6996" MONDO:0010888 "DOID:288" +MONDO:0010888 "ICD10CM:N80.0" MONDO:0010888 "EFO:1001757" MONDO:0033203 "Orphanet:506334" MONDO:0033203 "OMIM:617575" @@ -66453,7 +64818,6 @@ MONDO:0033203 "DOID:0080265" MONDO:0033203 "UMLS:CN339707" MONDO:0005495 "ICD9:255.8" MONDO:0005495 "EFO:0005539" -MONDO:0005495 "ICD10:E27.9" MONDO:0005495 "ICD9:255" MONDO:0005495 "MESH:D000307" MONDO:0005495 "ICD9:255.9" @@ -66463,8 +64827,8 @@ MONDO:0005495 "DOID:9553" MONDO:0011082 "OMIM:601452" MONDO:0011082 "MESH:C537865" MONDO:0011082 "GARD:0004031" +MONDO:0011082 "ICD10CM:Q87.0" MONDO:0011082 "Orphanet:398156" -MONDO:0011082 "ICD10:Q87.0" MONDO:0011082 "UMLS:C1832352" HP:0000144 "UMLS:C0520927" HP:0000144 "SNOMEDCT_US:17276009" @@ -66480,8 +64844,8 @@ MONDO:0020042 "Orphanet:98087" MONDO:0020042 "UMLS:CN206965" NCBITaxon:42113 "GC_ID:1" MONDO:0016249 "UMLS:CN201037" -MONDO:0016249 "ICD10:C56" MONDO:0016249 "Orphanet:213524" +MONDO:0016249 "ICD10CM:C56" MONDO:0000994 "NCIT:C5531" MONDO:0000994 "DOID:10289" MONDO:0000994 "UMLS:C1334615" @@ -66495,14 +64859,15 @@ MONDO:0014408 "UMLS:C4014742" MONDO:0014408 "Orphanet:83473" MONDO:0014408 "OMIM:615938" MONDO:0015034 "Orphanet:100011" -MONDO:0015034 "ICD10:Q04.3" MONDO:0015034 "UMLS:CN228900" +MONDO:0015034 "ICD10CM:Q04.3" MONDO:0012156 "DOID:0110662" MONDO:0012156 "UMLS:C4225405" MONDO:0012156 "UMLS:C1837122" MONDO:0012156 "OMIM:608930" MONDO:0012156 "Orphanet:590" MONDO:0019625 "OMIM:610168" +MONDO:0019625 "ICD10CM:I71.0" MONDO:0019625 "SCTID:45894003" MONDO:0019625 "UMLS:C0392775" MONDO:0019625 "OMIMPS:607086" @@ -66510,15 +64875,14 @@ MONDO:0019625 "Orphanet:229" MONDO:0019625 "OMIM:615582" MONDO:0019625 "ICD9:447.9" MONDO:0019625 "OMIM:614816" +MONDO:0019625 "ICD10CM:Q87.4" MONDO:0019625 "OMIM:617168" -MONDO:0019625 "ICD10:I71.0" MONDO:0019625 "OMIM:616166" MONDO:0019625 "OMIM:607087" MONDO:0019625 "GARD:0002249" MONDO:0019625 "UMLS:CN118826" MONDO:0019625 "OMIM:132900" MONDO:0019625 "OMIM:611788" -MONDO:0019625 "ICD10:Q87.4" MONDO:0019625 "Orphanet:91387" MONDO:0019625 "OMIM:607086" MONDO:0019625 "GARD:0001654" @@ -66528,7 +64892,6 @@ MONDO:0019625 "OMIM:613780" MONDO:0019625 "OMIM:609192" MONDO:0000839 "SCTID:276654001" MONDO:0000839 "ICD9:759.89" -MONDO:0000839 "ICD10:Q00.Q99" MONDO:0000839 "MESH:D000013" MONDO:0000839 "UMLS:CN232116" MONDO:0000839 "EFO:0003915" @@ -66571,8 +64934,8 @@ MONDO:0010027 "Orphanet:309324" MONDO:0010027 "GARD:0000175" MONDO:0010027 "SCTID:34566007" MONDO:0010027 "OMIM:269920" -MONDO:0010027 "ICD10:E77.8" MONDO:0010027 "Orphanet:834" +MONDO:0010027 "ICD10CM:E77.8" MONDO:0010027 "MedDRA:10067532" MONDO:0013597 "MESH:C562866" MONDO:0013597 "UMLS:C0398635" @@ -66582,7 +64945,6 @@ MONDO:0013597 "OMIM:614158" MONDO:0008871 "DOID:0060608" MONDO:0008871 "Orphanet:2636" MONDO:0008871 "OMIM:210710" -MONDO:0008871 "ICD10:Q87.1" MONDO:0008871 "SCTID:254102008" MONDO:0013426 "DOID:0070237" MONDO:0013426 "UMLS:C3151087" @@ -66590,7 +64952,7 @@ MONDO:0013426 "OMIM:613795" MONDO:0013426 "Orphanet:284984" MONDO:0013426 "GARD:0010997" MONDO:0014500 "OMIM:616117" -MONDO:0014500 "ICD10:I45.8" +MONDO:0014500 "ICD10CM:I45.8" MONDO:0014500 "UMLS:C4015285" MONDO:0014500 "Orphanet:436242" MONDO:0014500 "EFO:0005304" @@ -66602,8 +64964,8 @@ MONDO:0021343 "NCIT:C9319" MONDO:0032812 "OMIM:618557" MONDO:0015929 "Orphanet:182108" MONDO:0020146 "Orphanet:98554" -MONDO:0011468 "ICD10:G60.0" MONDO:0011468 "OMIM:604484" +MONDO:0011468 "ICD10CM:G60.0" MONDO:0011468 "GARD:0010131" MONDO:0011468 "MESH:C535717" MONDO:0011468 "Orphanet:90117" @@ -66615,8 +64977,8 @@ MONDO:0011836 "ONCOTREE:THHC" MONDO:0011836 "Orphanet:146" MONDO:0011836 "SCTID:423158009" NCBITaxon:65647 "GC_ID:1" -MONDO:0018131 "ICD10:Q93.5" MONDO:0018131 "UMLS:CN204512" +MONDO:0018131 "ICD10CM:Q93.5" MONDO:0018131 "Orphanet:352665" MONDO:0020732 "OMIMPS:176670" MONDO:0000586 "DOID:0060029" @@ -66638,26 +65000,27 @@ CL:1000325 "FMA:263065" MONDO:0021530 "NCIT:C4427" MONDO:0021530 "UMLS:C0345749" MONDO:0021530 "SCTID:92412003" -MONDO:0011719 "ICD10:C26.9" -MONDO:0011719 "OMIM:606764" -MONDO:0011719 "MedDRA:10051066" MONDO:0011719 "Orphanet:44890" -MONDO:0011719 "NCIT:C3868" MONDO:0011719 "ICDO:8936/1" +MONDO:0011719 "MESH:D046152" +MONDO:0011719 "ONCOTREE:GIST" +MONDO:0011719 "UMLS:C0238198" +MONDO:0011719 "GARD:0008598" MONDO:0011719 "UMLS:C3179349" +MONDO:0011719 "OMIM:606764" MONDO:0011719 "DOID:9253" -MONDO:0011719 "UMLS:C0238198" -MONDO:0011719 "ONCOTREE:GIST" +MONDO:0011719 "NCIT:C3868" MONDO:0011719 "SCTID:420120006" -MONDO:0011719 "GARD:0008598" -MONDO:0011719 "MESH:D046152" +MONDO:0011719 "MedDRA:10051066" +MONDO:0011719 "ICD10CM:C26.9" MONDO:0001988 "DOID:14529" -MONDO:0001988 "ICD10:K03.3" MONDO:0001988 "SCTID:41918006" MONDO:0001988 "ICD9:521.42" MONDO:0001988 "UMLS:C0266878" MONDO:0005087 "DOID:1579" +MONDO:0005087 "ICD10CM:J00-J99" MONDO:0005087 "ICD9:519" +MONDO:0005087 "ICD10CM:J96-J99" MONDO:0005087 "SCTID:50043002" MONDO:0005087 "NCIT:C26871" MONDO:0005087 "ICD9:516.9" @@ -66665,18 +65028,18 @@ MONDO:0005087 "ICD9:508" MONDO:0005087 "ICD9:517.8" MONDO:0005087 "ICD9:V12.60" MONDO:0005087 "ICD9:V47.2" +MONDO:0005087 "ICD10CM:P19-P29" MONDO:0005087 "ICD9:510-519.99" MONDO:0005087 "ICD9:516.8" MONDO:0005087 "ICD9:517" MONDO:0005087 "ICD9:519.1" -MONDO:0005087 "ICD10:J96-J99" MONDO:0005087 "ICD9:508.8" +MONDO:0005087 "ICD10CM:Q30-Q34" MONDO:0005087 "ICD9:519.8" MONDO:0005087 "ICD9:500-508.99" MONDO:0005087 "ICD9:503" MONDO:0005087 "ICD9:508.1" MONDO:0005087 "ICD9:516" -MONDO:0005087 "ICD10:J98" MONDO:0005087 "MESH:D012140" MONDO:0005087 "ICD9:460-519.99" MONDO:0005087 "ICD9:519.9" @@ -66687,7 +65050,7 @@ MONDO:0001190 "DOID:11076" MONDO:0017586 "Orphanet:300504" MONDO:0017586 "GARD:0011007" MONDO:0017586 "UMLS:CN203392" -MONDO:0017239 "ICD10:L81.8" +MONDO:0017239 "ICD10CM:L81.8" MONDO:0017239 "OMIM:145250" MONDO:0017239 "UMLS:C1840392" MONDO:0017239 "Orphanet:280628" @@ -66695,16 +65058,15 @@ MONDO:0008463 "MESH:C566665" MONDO:0008463 "OMIM:183500" MONDO:0008463 "UMLS:C1866742" MONDO:0019877 "SCTID:763272003" -MONDO:0019877 "ICD10:Q92.3" MONDO:0019877 "Orphanet:96094" MONDO:0003347 "UMLS:C1334179" MONDO:0003347 "DOID:5251" MONDO:0003347 "NCIT:C27495" MONDO:0009865 "Orphanet:97234" +MONDO:0009865 "ICD10CM:E74.0" MONDO:0009865 "MESH:C536176" MONDO:0009865 "SCTID:61772003" MONDO:0009865 "OMIM:261670" -MONDO:0009865 "ICD10:E74.0" MONDO:0009865 "GARD:0009964" MONDO:0009865 "NCIT:C131647" MONDO:0013029 "OMIM:612876" @@ -66714,10 +65076,10 @@ MONDO:0013029 "UMLS:C3887996" MONDO:0014891 "UMLS:C4310741" MONDO:0014891 "OMIM:617056" MONDO:0017879 "EFO:0007296" -MONDO:0017879 "ICD10:B33.4+" +MONDO:0017879 "ICD10EXP:B33.4+" MONDO:0017879 "GARD:0000069" MONDO:0017879 "ICD9:480.8" -MONDO:0017879 "ICD10:J17.1*" +MONDO:0017879 "ICD10EXP:J17.1*" MONDO:0017879 "NCIT:C84747" MONDO:0017879 "Orphanet:319247" MONDO:0017879 "SCTID:120639003" @@ -66726,36 +65088,36 @@ MONDO:0017879 "UMLS:C0243025" MONDO:0017879 "MedDRA:10019143" MONDO:0017879 "DOID:14472" MONDO:0017081 "SCTID:253109005" -MONDO:0017081 "ICD10:Q01.8" +MONDO:0017081 "ICD10CM:Q01.8" MONDO:0017081 "Orphanet:268826" MONDO:0018825 "Orphanet:481152" MONDO:0009045 "OMIM:218900" +MONDO:0009045 "ICD10CM:Q87.8" MONDO:0009045 "SCTID:722381004" -MONDO:0009045 "ICD10:Q87.8" MONDO:0009045 "GARD:0001614" MONDO:0009045 "Orphanet:1380" MONDO:0009045 "UMLS:C0795914" MONDO:0009045 "MESH:C536216" +MONDO:0010830 "ICD10CM:E75.4" MONDO:0010830 "MESH:C537952" MONDO:0010830 "Orphanet:228354" MONDO:0010830 "OMIM:600143" MONDO:0010830 "SCTID:703526007" -MONDO:0010830 "ICD10:E75.4" MONDO:0010830 "Orphanet:79264" MONDO:0010830 "Orphanet:168491" MONDO:0010830 "DOID:0110723" MONDO:0010142 "UMLS:C3493776" MONDO:0010142 "DOID:0070126" -MONDO:0010142 "ICD10:E03.1" MONDO:0010142 "Orphanet:90673" +MONDO:0010142 "ICD10CM:E03.1" MONDO:0010142 "OMIM:275200" MONDO:0010142 "UMLS:CN206435" NCBITaxon:40121 "GC_ID:1" MONDO:0002335 "MESH:D020277" MONDO:0002335 "DOID:2536" MONDO:0002335 "SCTID:444728005" -MONDO:0002335 "ICD10:G61.81" MONDO:0002335 "SCTID:128209004" +MONDO:0002335 "ICD10CM:G61.81" MONDO:0002335 "ICD9:357.81" MONDO:0002335 "NCIT:C84636" MONDO:0022333 "MESH:C535321" @@ -66767,20 +65129,20 @@ MONDO:0011247 "MESH:C537567" MONDO:0011247 "UMLS:C1865209" MONDO:0011247 "GARD:0009985" MONDO:0011247 "OMIM:602551" +MONDO:0012321 "ICD10CM:G30" MONDO:0012321 "DOID:0110043" MONDO:0012321 "OMIM:609636" MONDO:0012321 "UMLS:C1864828" MONDO:0012321 "MESH:C566465" -MONDO:0012321 "ICD10:G30" MONDO:0016867 "Orphanet:261771" -MONDO:0016867 "ICD10:Q93.5" +MONDO:0016867 "ICD10CM:Q93.5" NCBITaxon:1643688 "PMID:23908650" NCBITaxon:1643688 "GC_ID:11" MONDO:0009232 "MESH:C538189" +MONDO:0009232 "ICD10CM:Q74.8" MONDO:0009232 "SCTID:721296004" MONDO:0009232 "UMLS:C1856728" MONDO:0009232 "GARD:0002410" -MONDO:0009232 "ICD10:Q74.8" MONDO:0009232 "OMIM:228930" MONDO:0009232 "Orphanet:2854" MONDO:0009232 "DOID:0090067" @@ -66815,16 +65177,15 @@ MONDO:0007479 "UMLS:C1851994" MONDO:0007479 "GARD:0006294" MONDO:0006723 "EFO:1000893" MONDO:0006723 "MESH:D013282" -MONDO:0006723 "ICD10:K12.1" MONDO:0006723 "DOID:11875" MONDO:0006723 "ICD9:528.9" MONDO:0006723 "SCTID:69254008" MONDO:0006723 "UMLS:C0038364" MONDO:0013762 "UMLS:C3280887" -MONDO:0013762 "ICD10:E88.8" MONDO:0013762 "GARD:0012678" MONDO:0013762 "OMIM:614462" MONDO:0013762 "Orphanet:401859" +MONDO:0013762 "ICD10CM:E88.8" MONDO:0012709 "UMLS:C1968843" MONDO:0012709 "Orphanet:98938" MONDO:0012709 "OMIM:611638" @@ -66869,7 +65230,6 @@ MONDO:0006339 "EFO:1000424" MONDO:0006339 "UMLS:C4054287" MONDO:0006339 "NCIT:C121953" MONDO:0005711 "GARD:0001481" -MONDO:0005711 "ICD10:K44.9" MONDO:0005711 "UMLS:C0235833" MONDO:0005711 "OMIM:610187" MONDO:0005711 "EFO:0007216" @@ -66878,8 +65238,6 @@ MONDO:0005711 "Orphanet:2140" MONDO:0005711 "MedDRA:10010439" MONDO:0005711 "OMIM:222400" MONDO:0005711 "NCIT:C98893" -MONDO:0005711 "ICD10:Q79.0" -MONDO:0005711 "ICD10:K44" MONDO:0005711 "OMIM:142340" MONDO:0005711 "OMIM:306950" MONDO:0009453 "MESH:C565469" @@ -66893,11 +65251,11 @@ CL:0000300 "FBbt:00005412" CL:0000300 "FMA:18649" MONDO:0010550 "DOID:0110208" MONDO:0010550 "GARD:0001243" +MONDO:0010550 "ICD10CM:G60.0" MONDO:0010550 "MESH:C535302" MONDO:0010550 "SCTID:763457000" MONDO:0010550 "OMIM:302801" MONDO:0010550 "Orphanet:101076" -MONDO:0010550 "ICD10:G60.0" MONDO:0010550 "UMLS:C1844873" MONDO:0014968 "UMLS:C4310667" MONDO:0014968 "OMIM:617207" @@ -66911,8 +65269,8 @@ MONDO:0023054 "SCTID:83886009" MONDO:0023054 "NCIT:C116724" MONDO:0023054 "UMLS:C0270898" MONDO:0019656 "UMLS:CN206529" +MONDO:0019656 "ICD10CM:N04.8" MONDO:0019656 "Orphanet:93220" -MONDO:0019656 "ICD10:N04.8" MONDO:0014344 "Orphanet:98722" MONDO:0014344 "OMIM:615779" MONDO:0014344 "UMLS:C4014310" @@ -66928,7 +65286,6 @@ MONDO:0004952 "DOID:8651" MONDO:0004952 "NCIT:C9357" MONDO:0004952 "NCIT:C26956" MONDO:0004952 "EFO:0000183" -MONDO:0004952 "ICD10:C81" MONDO:0004952 "ICDO:9650/3" MONDO:0004952 "ICD9:201.9" MONDO:0004952 "SCTID:118602004" @@ -66937,15 +65294,14 @@ MONDO:0004952 "ICD9:201" MONDO:0004952 "OMIM:400021" MONDO:0004952 "ICD9:201.2" MONDO:0004952 "NCIT:C6914" -MONDO:0004952 "ICD10:C81.9" MONDO:0004952 "DOID:8567" MONDO:0004952 "ICD9:201.0" MONDO:0004952 "ONCOTREE:HL" MONDO:0004952 "ICD9:201.1" MONDO:0007600 "OMIM:615605" +MONDO:0007600 "ICD10CM:E72.0" MONDO:0007600 "OMIM:134600" MONDO:0007600 "GARD:0009118" -MONDO:0007600 "ICD10:E72.0" MONDO:0007600 "NCIT:C123229" MONDO:0007600 "Orphanet:3337" MONDO:0007600 "OMIM:613388" @@ -66953,14 +65309,13 @@ MONDO:0011991 "MESH:C564273" MONDO:0011991 "OMIM:608219" MONDO:0011991 "DOID:0110496" MONDO:0011991 "UMLS:C1842381" -MONDO:0011991 "ICD10:H90.3" -MONDO:0015572 "ICD10:Q04.8" +MONDO:0015572 "ICD10CM:Q04.8" MONDO:0015572 "Orphanet:163209" MONDO:0011132 "Orphanet:169095" MONDO:0011132 "SCTID:720345008" MONDO:0011132 "GARD:0004358" MONDO:0011132 "OMIM:601705" -MONDO:0011132 "ICD10:D82.8" +MONDO:0011132 "ICD10CM:D82.8" MONDO:0011132 "MESH:C536781" MONDO:0011132 "UMLS:C1866426" MONDO:0011132 "DOID:0060769" @@ -66978,12 +65333,12 @@ MONDO:0009715 "Orphanet:614" MONDO:0009715 "UMLS:C0751360" NCBITaxon:42231 "GC_ID:1" MONDO:0013311 "OMIM:613573" +MONDO:0013311 "ICD10CM:Q82.8" MONDO:0013311 "OMIMPS:613573" -MONDO:0013311 "ICD10:Q82.8" MONDO:0013311 "Orphanet:247820" MONDO:0013311 "UMLS:CN228599" MONDO:0017729 "Orphanet:309256" -MONDO:0017729 "ICD10:E75.2" +MONDO:0017729 "ICD10CM:E75.2" MONDO:0020138 "Orphanet:98538" MONDO:0022568 "MESH:C535438" MONDO:0022568 "GARD:0000878" @@ -67010,9 +65365,9 @@ HP:0002098 "UMLS:C0013404" MONDO:0008268 "MESH:C536331" MONDO:0008268 "SCTID:82639001" MONDO:0008268 "GARD:0004413" +MONDO:0008268 "ICD10CM:Q87.2" MONDO:0008268 "OMIM:174310" MONDO:0008268 "Orphanet:2917" -MONDO:0008268 "ICD10:Q87.2" MONDO:0008268 "ICD9:625.4" HP:0001732 "UMLS:C0030286" HP:0001732 "SNOMEDCT_US:3855007" @@ -67022,7 +65377,7 @@ MONDO:0014752 "DOID:0080385" MONDO:0014752 "UMLS:C4225228" MONDO:0014752 "OMIM:616730" MONDO:0018333 "UMLS:CN205005" -MONDO:0018333 "ICD10:E71.3" +MONDO:0018333 "ICD10CM:E71.3" MONDO:0018333 "Orphanet:394532" MONDO:0001168 "ICD9:342.10" MONDO:0001168 "DOID:10967" @@ -67035,6 +65390,7 @@ MONDO:0021166 "UMLS:C1290884" MONDO:0021166 "SCTID:128139000" MONDO:0021166 "NCIT:C93210" MONDO:0021166 "ICD9:799.89" +MONDO:0021166 "ICD10CM:G00-G09" MONDO:0027069 "DOID:0111748" MONDO:0027069 "OMIM:500015" MONDO:0004544 "DOID:8368" @@ -67061,10 +65417,10 @@ MONDO:0006192 "NCIT:C6287" MONDO:0006192 "UMLS:C1336905" MONDO:0006192 "ONCOTREE:UEC" MONDO:0011412 "SCTID:702421006" +MONDO:0011412 "ICD10CM:G31.8" MONDO:0011412 "GARD:0010037" MONDO:0011412 "DOID:0050831" MONDO:0011412 "UMLS:C1858680" -MONDO:0011412 "ICD10:G31.8" MONDO:0011412 "ICD9:348.39" MONDO:0011412 "MESH:C536841" MONDO:0011412 "Orphanet:85110" @@ -67077,24 +65433,24 @@ MONDO:0015958 "UMLS:CN200553" MONDO:0015160 "Orphanet:102284" MONDO:0000799 "DOID:0060524" MONDO:0020871 "Orphanet:623" -MONDO:0056822 "OMIM:205000" MONDO:0005946 "UMLS:C0035469" MONDO:0005946 "SCTID:18140003" MONDO:0005946 "MESH:D012227" -MONDO:0005946 "ICD10:B48.1" MONDO:0005946 "ICD9:117.0" MONDO:0005946 "DOID:2409" +MONDO:0005946 "ICD10CM:B48.1" MONDO:0005946 "EFO:0007471" +MONDO:0056822 "OMIM:205000" HP:0000153 "MSH:D009056" HP:0000153 "SNOMEDCT_US:128334002" HP:0000153 "UMLS:C0026633" MONDO:0013060 "OMIM:612953" MONDO:0013060 "DOID:0060900" -MONDO:0013060 "ICD10:G24.1" MONDO:0013060 "UMLS:C2751842" MONDO:0013060 "SCTID:720466001" MONDO:0013060 "MESH:C567844" MONDO:0013060 "GARD:0012568" +MONDO:0013060 "ICD10CM:G24.1" MONDO:0013060 "Orphanet:199351" MONDO:0003902 "UMLS:C1332611" MONDO:0003902 "DOID:6501" @@ -67113,25 +65469,25 @@ MONDO:0015004 "OMIM:617284" MONDO:0015004 "Orphanet:589618" MONDO:0015004 "UMLS:C4310633" MONDO:0010400 "OMIM:300695" -MONDO:0010400 "ICD10:G71.0" MONDO:0010400 "GARD:0007608" MONDO:0010400 "Orphanet:431272" +MONDO:0010400 "ICD10CM:G71.0" MONDO:0010400 "UMLS:C2678061" +MONDO:0016562 "ICD10CM:G23.1" MONDO:0016562 "UMLS:CN226961" MONDO:0016562 "Orphanet:240094" -MONDO:0016562 "ICD10:G23.1" MONDO:0012165 "MESH:C567672" MONDO:0012165 "OMIM:608980" MONDO:0012165 "GARD:0010595" +MONDO:0012165 "ICD10CM:Q87.8" MONDO:0012165 "SCTID:717940006" -MONDO:0012165 "ICD10:Q87.8" MONDO:0012165 "UMLS:C4303547" MONDO:0012165 "UMLS:C2750433" MONDO:0012165 "Orphanet:217266" MONDO:0024317 "UMLS:C1298685" MONDO:0024317 "SCTID:373621006" MONDO:0024317 "ICD9:338.4" -MONDO:0024317 "ICD10:G89.4" +MONDO:0024317 "ICD10CM:G89.4" MONDO:0008676 "OMIM:193900" MONDO:0008676 "Orphanet:171723" MONDO:0008676 "UMLS:C1721005" @@ -67143,19 +65499,19 @@ MONDO:0018741 "Orphanet:464458" MONDO:0010706 "GARD:0004480" MONDO:0010706 "OMIM:311360" MONDO:0010706 "ICD9:256.39" -MONDO:0013281 "ICD10:E77.8" MONDO:0013281 "DOID:0070262" MONDO:0013281 "OMIM:613489" MONDO:0013281 "SCTID:718751000" MONDO:0013281 "UMLS:C3150736" MONDO:0013281 "GARD:0012412" +MONDO:0013281 "ICD10CM:E77.8" MONDO:0013281 "Orphanet:263501" NCBITaxon:223472 "GC_ID:1" MONDO:0009904 "NCIT:C84730" MONDO:0009904 "MESH:D053579" -MONDO:0009904 "ICD10:N15.8" MONDO:0009904 "UMLS:C0268450" MONDO:0009904 "ICD9:275.49" +MONDO:0009904 "ICD10CM:N15.8" MONDO:0009904 "SCTID:707756004" MONDO:0009904 "Orphanet:358" MONDO:0009904 "OMIM:263800" @@ -67164,28 +65520,27 @@ MONDO:0009904 "MedDRA:10062906" MONDO:0009904 "GARD:0008547" MONDO:0016445 "SCTID:733467001" MONDO:0016445 "UMLS:C4518793" -MONDO:0016445 "ICD10:L90.8" MONDO:0016445 "Orphanet:228277" +MONDO:0016445 "ICD10CM:L90.8" MONDO:0016445 "UMLS:CN226934" MONDO:0021062 "UMLS:CN203514" MONDO:0021062 "Orphanet:306539" MONDO:0013567 "MESH:C563540" MONDO:0013567 "UMLS:C3279790" MONDO:0013567 "Orphanet:1478" -MONDO:0013567 "ICD10:Q21.1" MONDO:0013567 "DOID:0110108" MONDO:0013567 "OMIM:614089" MONDO:0012352 "MESH:C565222" MONDO:0012352 "OMIM:609817" MONDO:0012352 "UMLS:C1853293" MONDO:0019821 "Orphanet:95484" -MONDO:0019821 "ICD10:Q25.4" +MONDO:0019821 "ICD10CM:Q25.4" MONDO:0007991 "SCTID:716112005" -MONDO:0007991 "ICD10:Q87.8" MONDO:0007991 "OMIM:156620" MONDO:0007991 "Orphanet:2533" MONDO:0007991 "UMLS:C0796062" MONDO:0007991 "GARD:0000230" +MONDO:0007991 "ICD10CM:Q87.8" MONDO:0007991 "MESH:C537326" MONDO:0008559 "ICD9:453.9" MONDO:0008559 "GARD:0010815" @@ -67194,10 +65549,9 @@ MONDO:0008559 "UMLS:C0398623" MONDO:0008559 "OMIM:188050" MONDO:0018624 "Orphanet:443180" MONDO:0018624 "UMLS:CN237665" -MONDO:0018624 "ICD10:G96.0" MONDO:0009258 "DOID:0111459" MONDO:0009258 "Orphanet:352" -MONDO:0009258 "ICD10:E74.2" +MONDO:0009258 "ICD10CM:E74.2" MONDO:0009258 "Orphanet:79239" MONDO:0009258 "SCTID:10899004" MONDO:0009258 "OMIM:230400" @@ -67206,7 +65560,6 @@ MONDO:0002158 "UMLS:C0015558" MONDO:0002158 "SCTID:363444001" MONDO:0002158 "MedDRA:10025915" MONDO:0002158 "UMLS:CN200469" -MONDO:0002158 "ICD10:C57.0" MONDO:0002158 "UMLS:C0153579" MONDO:0002158 "ICD9:183.2" MONDO:0002158 "DOID:1964" @@ -67218,11 +65571,9 @@ MONDO:0002158 "UMLS:C0238122" MONDO:0010394 "OMIM:300660" MONDO:0005534 "DOID:0060190" MONDO:0005534 "UMLS:C0949272" -MONDO:0005534 "ICD10:K52.9" MONDO:0005534 "EFO:0005624" MONDO:0005534 "MedDRA:10062647" MONDO:0044355 "Orphanet:178311" -MONDO:0044355 "ICD10:M85.8" MONDO:0044355 "SCTID:766711009" MONDO:0044355 "UMLS:C0020499" MONDO:0009163 "OMIM:225700" @@ -67233,8 +65584,8 @@ MONDO:0007182 "GARD:0006801" MONDO:0007182 "ICD9:336.8" MONDO:0007182 "MESH:D017827" MONDO:0007182 "OMIM:109150" +MONDO:0007182 "ICD10CM:G11.8" MONDO:0007182 "UMLS:C0024408" -MONDO:0007182 "ICD10:G11.8" MONDO:0007182 "NCIT:C84830" MONDO:0007182 "SCTID:91952008" MONDO:0007182 "Orphanet:98757" @@ -67249,9 +65600,9 @@ MONDO:0015737 "Orphanet:171436" MONDO:0015737 "OMIM:256030" MONDO:0015737 "OMIM:615731" MONDO:0015737 "OMIM:616165" -MONDO:0015737 "ICD10:G71.2" MONDO:0015737 "OMIM:609285" MONDO:0015737 "OMIM:610687" +MONDO:0015737 "ICD10CM:G71.2" MONDO:0015737 "OMIM:161800" MONDO:0060664 "UMLS:CN889218" MONDO:0060664 "OMIM:617913" @@ -67271,7 +65622,7 @@ MONDO:0013975 "OMIM:614929" MONDO:0013975 "Orphanet:69084" MONDO:0013975 "UMLS:C3554117" MONDO:0013975 "DOID:0111660" -MONDO:0015395 "ICD10:Q31.1" +MONDO:0015395 "ICD10CM:Q31.1" MONDO:0015395 "SCTID:204552001" MONDO:0015395 "Orphanet:141121" MONDO:0015395 "ICD9:748.3" @@ -67289,13 +65640,12 @@ MONDO:0019151 "UMLS:C4302876" MONDO:0021335 "NCIT:C4803" MONDO:0021335 "SCTID:254570009" MONDO:0005079 "EFO:0000662" -MONDO:0005079 "ICD10:N84" +MONDO:0005079 "ICD10CM:N84" MONDO:0005079 "MESH:D011127" MONDO:0005079 "SCTID:441456002" MONDO:0005079 "NCIT:C3340" MONDO:0002089 "NCIT:C34980" -MONDO:0002089 "ICD10:H34.9" -MONDO:0002089 "ICD10:H34" +MONDO:0002089 "ICD10CM:H34" MONDO:0002089 "SCTID:73757007" MONDO:0002089 "UMLS:C0035326" MONDO:0002089 "ICD9:362.30" @@ -67320,12 +65670,11 @@ MONDO:0006021 "SCTID:23687008" MONDO:0006021 "DOID:0111151" MONDO:0006021 "EFO:1000013" MONDO:0014147 "Orphanet:352709" -MONDO:0014147 "ICD10:E75.4" +MONDO:0014147 "ICD10CM:E75.4" MONDO:0014147 "UMLS:C3715049" MONDO:0014147 "DOID:0110727" MONDO:0014147 "OMIM:615362" MONDO:0014147 "Orphanet:79262" -MONDO:0022999 "GARD:0001890" MONDO:0018997 "OMIM:613706" MONDO:0018997 "MESH:D009634" MONDO:0018997 "OMIM:610733" @@ -67340,41 +65689,42 @@ MONDO:0018997 "DOID:3490" MONDO:0018997 "OMIM:613224" MONDO:0018997 "UMLS:C0028326" MONDO:0018997 "SCTID:205824006" +MONDO:0018997 "ICD10CM:Q87.1" MONDO:0018997 "MedDRA:10029748" MONDO:0018997 "OMIM:605275" MONDO:0018997 "OMIM:616559" MONDO:0018997 "GARD:0010955" MONDO:0018997 "OMIM:609942" MONDO:0018997 "NCIT:C34854" -MONDO:0018997 "ICD10:Q87.1" MONDO:0018997 "OMIM:611553" +MONDO:0022999 "GARD:0001890" MONDO:0003904 "DOID:6510" MONDO:0003904 "NCIT:C6686" MONDO:0003904 "UMLS:C1335100" MONDO:0019530 "NCIT:C87125" -MONDO:0019530 "ICD10:Q70.1" -MONDO:0019530 "ICD10:Q70.3" -MONDO:0019530 "ICD10:Q70.0" +MONDO:0019530 "ICD10CM:Q70.2" MONDO:0019530 "MedDRA:10042778" -MONDO:0019530 "ICD10:Q70.2" +MONDO:0019530 "ICD10CM:Q70.1" MONDO:0019530 "UMLS:C0039075" -MONDO:0019530 "ICD10:Q70.9" MONDO:0019530 "Orphanet:90025" -MONDO:0019530 "ICD10:Q70.4" +MONDO:0019530 "ICD10CM:Q70.9" +MONDO:0019530 "ICD10CM:Q70.4" +MONDO:0019530 "ICD10CM:Q70.0" +MONDO:0019530 "ICD10CM:Q70.3" MONDO:0014557 "EFO:0009016" MONDO:0014557 "OMIM:616267" MONDO:0014557 "Orphanet:459033" MONDO:0014557 "GARD:0013111" MONDO:0014557 "UMLS:C4225397" -MONDO:0008620 "ICD10:Q78.8" MONDO:0008620 "MESH:C538069" MONDO:0008620 "OMIM:191440" MONDO:0008620 "Orphanet:2497" +MONDO:0008620 "ICD10CM:Q78.8" MONDO:0008620 "GARD:0002408" MONDO:0044637 "Orphanet:494526" MONDO:0022776 "GARD:0001372" -MONDO:0001520 "ICD10:F63.2" MONDO:0001520 "ICD9:312.32" +MONDO:0001520 "ICD10CM:F63.2" MONDO:0001520 "NCIT:C94333" MONDO:0001520 "SCTID:69361009" MONDO:0001520 "DOID:12400" @@ -67386,7 +65736,6 @@ MONDO:0000964 "DOID:10188" MONDO:0007423 "MESH:C565122" MONDO:0007423 "OMIM:124700" MONDO:0007423 "UMLS:C1852283" -MONDO:0001910 "ICD10:E70.29" MONDO:0001910 "DOID:14223" MONDO:0001910 "ICD9:270.2" MONDO:0001910 "MESH:D009794" @@ -67406,7 +65755,6 @@ MONDO:0008526 "GARD:0010062" NCBITaxon:766764 "GC_ID:1" MONDO:0014462 "DOID:0111133" MONDO:0014462 "OMIM:616032" -MONDO:0014462 "ICD10:N04.1" MONDO:0014462 "UMLS:C4014993" MONDO:0009037 "OMIM:218530" MONDO:0009037 "UMLS:C1857493" @@ -67417,8 +65765,8 @@ MONDO:0032622 "OMIM:618239" MONDO:0011217 "Orphanet:35107" MONDO:0011217 "ICD9:272.8" MONDO:0011217 "OMIM:602398" +MONDO:0011217 "ICD10CM:Q87.8" MONDO:0011217 "SCTID:709490002" -MONDO:0011217 "ICD10:Q87.8" MONDO:0011217 "MESH:C566555" MONDO:0011217 "UMLS:C1865596" MONDO:0011217 "GARD:0010283" @@ -67426,11 +65774,11 @@ MONDO:0006528 "EFO:1000671" MONDO:0006528 "DOID:0050487" MONDO:0005465 "EFO:0005242" MONDO:0010002 "SCTID:69093006" +MONDO:0010002 "ICD10CM:Q82.8" MONDO:0010002 "ICD9:759.89" MONDO:0010002 "NCIT:C3335" MONDO:0010002 "DOID:2732" MONDO:0010002 "MESH:D011038" -MONDO:0010002 "ICD10:Q82.8" MONDO:0010002 "Orphanet:2909" MONDO:0010002 "GARD:0004392" MONDO:0010002 "OMIMPS:268400" @@ -67447,25 +65795,24 @@ MONDO:0008841 "UMLS:C1859615" MONDO:0008841 "MESH:C565930" MONDO:0008841 "OMIM:208910" NCBITaxon:785 "GC_ID:11" -MONDO:0017144 "ICD10:D56.0" +MONDO:0017144 "ICD10CM:D56.0" MONDO:0017144 "UMLS:CN202570" MONDO:0017144 "Orphanet:275745" MONDO:0030849 "OMIM:619099" MONDO:0020051 "Orphanet:98131" MONDO:0017801 "Orphanet:314466" +MONDO:0017801 "ICD10CM:D27" MONDO:0017801 "UMLS:CN203760" -MONDO:0017801 "ICD10:D27" -MONDO:0013827 "ICD10:G25.8" MONDO:0013827 "OMIM:614618" MONDO:0013827 "DOID:0060698" MONDO:0013827 "UMLS:C3553288" MONDO:0013827 "Orphanet:3197" MONDO:0020694 "NCIT:C35701" +MONDO:0011575 "ICD10CM:Q87.0" MONDO:0011575 "UMLS:C1854108" MONDO:0011575 "SCTID:720855003" MONDO:0011575 "GARD:0003480" MONDO:0011575 "Orphanet:66625" -MONDO:0011575 "ICD10:Q87.0" MONDO:0011575 "OMIM:605627" MONDO:0011575 "MESH:C565313" MONDO:0010205 "MESH:C564736" @@ -67473,12 +65820,11 @@ MONDO:0010205 "UMLS:C1848436" MONDO:0010205 "OMIM:278100" MONDO:0012658 "UMLS:C1969652" MONDO:0012658 "DOID:0110975" -MONDO:0012658 "ICD10:Q73.8" +MONDO:0012658 "ICD10CM:Q73.8" MONDO:0012658 "Orphanet:140908" MONDO:0012658 "OMIM:611377" MONDO:0012658 "SCTID:770406002" MONDO:0007969 "MESH:D008556" -MONDO:0007969 "ICD10:G51.2" MONDO:0007969 "DOID:1761" MONDO:0007969 "UMLS:C0025235" MONDO:0007969 "OMIM:155900" @@ -67492,7 +65838,7 @@ MONDO:0013604 "UMLS:C3279997" MONDO:0007852 "MESH:C536152" MONDO:0007852 "UMLS:C1835672" MONDO:0007852 "DOID:0111505" -MONDO:0007852 "ICD10:Q82.8" +MONDO:0007852 "ICD10CM:Q82.8" MONDO:0007852 "Orphanet:2202" MONDO:0007852 "GARD:0003094" MONDO:0007852 "OMIM:148350" @@ -67505,30 +65851,30 @@ MONDO:0006394 "UMLS:C3272804" NCBITaxon:59140 "GC_ID:1" MONDO:0017027 "UMLS:CN202339" MONDO:0017027 "Orphanet:264740" +MONDO:0019916 "ICD10CM:Q99.8" +MONDO:0019916 "Orphanet:96185" MONDO:0018585 "Orphanet:439175" -MONDO:0018585 "ICD10:I63.5" -MONDO:0014149 "ICD10:G71.2" +MONDO:0018585 "ICD10CM:I63.5" MONDO:0014149 "Orphanet:363409" MONDO:0014149 "SCTID:763346009" MONDO:0014149 "OMIM:615368" +MONDO:0014149 "ICD10CM:G71.2" MONDO:0014149 "UMLS:C3809272" -MONDO:0019916 "Orphanet:96185" -MONDO:0019916 "ICD10:Q99.8" MONDO:0010173 "Orphanet:247775" MONDO:0010173 "GARD:0007100" MONDO:0010173 "ICD9:752.49" MONDO:0010173 "SCTID:8793008" MONDO:0010173 "Orphanet:3109" MONDO:0010173 "OMIM:277000" -MONDO:0010173 "ICD10:Q51.8" +MONDO:0010173 "ICD10CM:Q51.8" MONDO:0023579 "GARD:0003151" MONDO:0023579 "MESH:C538125" MONDO:0023579 "UMLS:C2931740" MONDO:0700040 "SCTID:16716281000119108" +MONDO:0004757 "ICD10CM:J32.2" MONDO:0004757 "UMLS:C0008681" MONDO:0004757 "DOID:9312" MONDO:0004757 "NCIT:C34472" -MONDO:0004757 "ICD10:J32.2" MONDO:0004757 "SCTID:73237007" MONDO:0004757 "ICD9:473.2" MONDO:0014032 "UMLS:C3554446" @@ -67546,39 +65892,37 @@ HP:0011025 "UMLS:C4023587" NCBITaxon:7524 "PMID:7666451" NCBITaxon:7524 "GC_ID:1" MONDO:0018429 "UMLS:CN226142" +MONDO:0018429 "ICD10CM:Q93.5" MONDO:0018429 "Orphanet:401935" -MONDO:0018429 "ICD10:Q93.5" MONDO:0016015 "UMLS:C4275281" MONDO:0016015 "SCTID:715431002" +MONDO:0016015 "ICD10CM:Q86.8" MONDO:0016015 "Orphanet:1919" MONDO:0016015 "GARD:0004315" -MONDO:0016015 "ICD10:Q86.8" MONDO:0009781 "OMIM:258360" MONDO:0009781 "Orphanet:2739" MONDO:0009781 "MESH:C537752" MONDO:0009781 "GARD:0010161" MONDO:0009781 "UMLS:C1850316" -MONDO:0014336 "ICD10:Q87.0" +MONDO:0014336 "ICD10CM:Q87.0" MONDO:0014336 "DOID:0070053" MONDO:0014336 "OMIM:615761" MONDO:0014336 "UMLS:C3810406" MONDO:0014336 "Orphanet:404440" -MONDO:0024183 "ICD10CM:E51.12" MONDO:0024183 "DOID:0070317" +MONDO:0015902 "ICD10CM:E78.1" MONDO:0015902 "Orphanet:181425" -MONDO:0015902 "ICD10:E78.1" +MONDO:0013273 "SCTID:733473000" MONDO:0013273 "UMLS:C4518796" MONDO:0013273 "Orphanet:96078" MONDO:0013273 "OMIM:613458" MONDO:0013273 "DOID:0060431" -MONDO:0013273 "ICD10:Q92.3" MONDO:0013273 "UMLS:C3150708" MONDO:0013273 "GARD:0010755" -MONDO:0013273 "SCTID:733473000" MONDO:0010887 "OMIM:600457" +MONDO:0010887 "ICD10CM:L68.2" MONDO:0010887 "Orphanet:3387" MONDO:0010887 "SCTID:717963001" -MONDO:0010887 "ICD10:L68.2" MONDO:0010887 "UMLS:C1838123" MONDO:0010887 "GARD:0008438" MONDO:0010887 "MESH:C538390" @@ -67589,9 +65933,9 @@ MONDO:0011961 "SCTID:717825008" MONDO:0011961 "PMID:12870133" MONDO:0011961 "PMID:16311270" MONDO:0011961 "OMIM:608088" -MONDO:0011961 "ICD10:G60.8" MONDO:0011961 "Orphanet:139564" MONDO:0011961 "UMLS:C4303567" +MONDO:0011961 "ICD10CM:G60.8" MONDO:0005339 "OMIM:300710" MONDO:0005339 "DOID:0050801" MONDO:0005339 "EFO:0004191" @@ -67614,10 +65958,10 @@ MONDO:0008715 "OMIM:201180" MONDO:0008715 "DOID:0060226" MONDO:0008715 "SCTID:720408003" MONDO:0008715 "OMIM:239710" +MONDO:0008715 "ICD10CM:Q75.1" MONDO:0008715 "GARD:0000484" MONDO:0008715 "Orphanet:1784" MONDO:0008715 "MESH:C538186" -MONDO:0008715 "ICD10:Q75.1" MONDO:0008715 "UMLS:C1860118" MONDO:0015256 "Orphanet:1258" MONDO:0012378 "GARD:0009911" @@ -67636,7 +65980,6 @@ MONDO:0014407 "Orphanet:83473" MONDO:0005244 "MedDRA:10034606" MONDO:0005244 "SCTID:42658009" MONDO:0005244 "UMLS:C0442874" -MONDO:0005244 "ICD10:G62.9" MONDO:0005244 "SCTID:386033004" MONDO:0005244 "EFO:0003100" MONDO:0005244 "NCIT:C119734" @@ -67660,21 +66003,21 @@ MONDO:0019508 "NCIT:C74986" MONDO:0019508 "OMIM:119300" MONDO:0019508 "SCTID:79261008" MONDO:0019508 "OMIM:606713" -MONDO:0019508 "ICD10:Q38.0" +MONDO:0019508 "ICD10CM:Q38.0" CL:0002139 "FMA:67755" CL:0002139 "CALOHA:TS-1106" CL:0002139 "BTO:0001854" MONDO:0001912 "SCTID:91038008" -MONDO:0001912 "ICD10:J01.10" MONDO:0001912 "UMLS:C0155805" MONDO:0001912 "DOID:14225" -MONDO:0001912 "ICD10:J01.1" +MONDO:0001912 "ICD10CM:J01.1" MONDO:0001912 "ICD9:461.1" MONDO:0014722 "Orphanet:353298" MONDO:0014722 "OMIM:616651" +MONDO:0014722 "OMIM:300258" MONDO:0014722 "MESH:C535866" -MONDO:0014722 "ICD10:Q77.7" MONDO:0014722 "GARD:0009163" +MONDO:0014722 "ICD10CM:Q77.7" MONDO:0014722 "UMLS:C1846059" MONDO:0004232 "NCIT:C40357" MONDO:0004232 "DOID:7461" @@ -67693,18 +66036,17 @@ MONDO:0011219 "UMLS:C0406715" MONDO:0011219 "SCTID:239020008" MONDO:0011219 "Orphanet:99672" MONDO:0011219 "OMIM:602401" -MONDO:0016319 "ICD10:G90.8" MONDO:0016319 "Orphanet:217399" +MONDO:0016319 "ICD10CM:G90.8" MONDO:0001481 "DOID:12282" -MONDO:0001481 "ICD10:I80.1" MONDO:0001481 "SCTID:1748006" MONDO:0001481 "UMLS:C0265066" MONDO:0001481 "ICD9:451.11" MONDO:0021158 "SCTID:236772009" MONDO:0021158 "UMLS:C0341782" MONDO:0009202 "UMLS:C2931219" -MONDO:0009202 "ICD10:Q87.8" MONDO:0009202 "OMIM:227255" +MONDO:0009202 "ICD10CM:Q87.8" MONDO:0009202 "GARD:0005158" MONDO:0009202 "Orphanet:1780" MONDO:0002297 "NCIT:C4463" @@ -67717,22 +66059,21 @@ MONDO:0010479 "GARD:0012445" MONDO:0010479 "Orphanet:352675" MONDO:0010479 "SCTID:763347000" MONDO:0010479 "UMLS:C3806702" -MONDO:0010479 "ICD10:G60.0" +MONDO:0010479 "ICD10CM:G60.0" MONDO:0010479 "OMIM:300905" MONDO:0022609 "GARD:0009313" MONDO:0022609 "UMLS:C4013426" +MONDO:0020544 "Orphanet:99918" +MONDO:0020544 "UMLS:C0343532" +MONDO:0020544 "SCTID:240451000" +MONDO:0020544 "ICD10CM:A48.3" +MONDO:0020544 "MedDRA:10044251" MONDO:0002102 "HP:0100825" MONDO:0002102 "DOID:1762" MONDO:0002102 "MESH:D002613" MONDO:0002102 "UMLS:C0007971" MONDO:0002102 "SCTID:7847004" -MONDO:0002102 "ICD10:K13.0" MONDO:0002102 "NCIT:C79545" -MONDO:0020544 "Orphanet:99918" -MONDO:0020544 "UMLS:C0343532" -MONDO:0020544 "SCTID:240451000" -MONDO:0020544 "ICD10:A48.3" -MONDO:0020544 "MedDRA:10044251" MONDO:0008005 "UMLS:CN204053" MONDO:0008005 "GARD:0002362" MONDO:0008005 "OMIM:157800" @@ -67741,14 +66082,14 @@ MONDO:0008005 "Orphanet:3238" MONDO:0008005 "SCTID:720612000" MONDO:0019143 "GARD:0000683" MONDO:0019143 "Orphanet:74" +MONDO:0019143 "ICD10CM:B83.2" MONDO:0019143 "UMLS:C0392662" MONDO:0019143 "DOID:0050256" MONDO:0019143 "MESH:C536369" MONDO:0019143 "MedDRA:10069517" -MONDO:0019143 "ICD10:B81.3" MONDO:0019143 "SCTID:61750000" MONDO:0019143 "NCIT:C128394" -MONDO:0019143 "ICD10:B83.2" +MONDO:0019143 "ICD10CM:B81.3" MONDO:0019143 "ICD9:128.8" MONDO:0005673 "UMLS:C0005750" MONDO:0005673 "EFO:0007175" @@ -67756,7 +66097,6 @@ MONDO:0005673 "DOID:10606" MONDO:0005673 "NCIT:C34431" MONDO:0005673 "ICD9:579.2" MONDO:0005673 "MESH:D001765" -MONDO:0005673 "ICD10:K90.2" MONDO:0005673 "SCTID:66379009" MONDO:0006184 "UMLS:C0334383" MONDO:0006184 "NCIT:C4195" @@ -67772,8 +66112,8 @@ MONDO:0016634 "Orphanet:248365" MONDO:0015611 "Orphanet:165" MONDO:0015611 "GARD:0003262" MONDO:0015611 "UMLS:CN199983" +MONDO:0015611 "ICD10CM:E75.5" MONDO:0015611 "DOID:0050729" -MONDO:0015611 "ICD10:E75.5" MONDO:0007267 "UMLS:C1861863" MONDO:0007267 "DOID:0110309" MONDO:0007267 "OMIM:115196" @@ -67781,10 +66121,10 @@ MONDO:0007267 "MESH:C566170" MONDO:0018834 "Orphanet:482601" MONDO:0004701 "DOID:9042" MONDO:0004701 "UMLS:C0156369" -MONDO:0004701 "ICD10:N84.0" MONDO:0004701 "SCTID:11314008" MONDO:0004701 "ICD9:621.0" MONDO:0004701 "NCIT:C3662" +MONDO:0004701 "ICD10CM:N84.0" CL:1000547 "KUPO:0001061" MONDO:0003675 "NCIT:C35672" MONDO:0003675 "DOID:5851" @@ -67803,39 +66143,38 @@ HP:0002345 "MSH:D014202" HP:0002345 "UMLS:C4020853" MONDO:0011740 "UMLS:C1847319" MONDO:0011740 "MESH:C564650" -MONDO:0011740 "ICD10:D44.8" MONDO:0011740 "OMIM:606864" MONDO:0011740 "DOID:0080533" MONDO:0011740 "SCTID:722377004" MONDO:0011740 "Orphanet:97286" MONDO:0011740 "NCIT:C94831" MONDO:0011740 "GARD:0010643" +MONDO:0011740 "ICD10CM:D44.8" NCBITaxon:862507 "GC_ID:1" MONDO:0019561 "SCTID:15084002" MONDO:0019561 "UMLS:C0030327" +MONDO:0019561 "ICD10CM:L93.2" MONDO:0019561 "MESH:D015435" MONDO:0019561 "Orphanet:90285" -MONDO:0019561 "ICD10:L93.2" MONDO:0019561 "NCIT:C82884" NCBITaxon:118882 "GC_ID:11" MONDO:0018188 "UMLS:C2713443" -MONDO:0018188 "ICD10:D12.6" MONDO:0018188 "Orphanet:363314" +MONDO:0018188 "ICD10CM:D12.6" MONDO:0008299 "OMIM:176250" MONDO:0008299 "UMLS:C1867923" MONDO:0008299 "GARD:0010044" MONDO:0008299 "MESH:C536342" +MONDO:0004055 "DOID:6970" +MONDO:0004055 "SCTID:302900006" +MONDO:0004055 "ICD9:375.3" +MONDO:0004055 "UMLS:C0339129" MONDO:0018364 "SCTID:254849005" MONDO:0018364 "DOID:2151" MONDO:0018364 "Orphanet:398934" MONDO:0018364 "GARD:0009362" MONDO:0018364 "NCIT:C40026" MONDO:0018364 "MESH:C538090" -MONDO:0004055 "DOID:6970" -MONDO:0004055 "SCTID:302900006" -MONDO:0004055 "ICD9:375.3" -MONDO:0004055 "UMLS:C0339129" -MONDO:0004055 "ICD10:H04.3" MONDO:0011648 "MESH:C536266" MONDO:0011648 "OMIM:606190" MONDO:0011648 "Orphanet:2495" @@ -67852,7 +66191,6 @@ MONDO:0001546 "SCTID:202809009" MONDO:0001546 "UMLS:C0158295" MONDO:0001546 "DOID:12537" MONDO:0001546 "ICD9:724.71" -MONDO:0009631 "ICD10:Q11.0" MONDO:0009631 "OMIM:251600" MONDO:0009631 "Orphanet:2542" MONDO:0009631 "DOID:0060840" @@ -67861,7 +66199,7 @@ MONDO:0009631 "MESH:C565377" MONDO:0007488 "GARD:0003243" MONDO:0007488 "NCIT:C84826" MONDO:0007488 "Orphanet:1648" -MONDO:0007488 "ICD10:G31.83" +MONDO:0007488 "ICD10CM:G31.83" MONDO:0007488 "DOID:12217" MONDO:0007488 "ICD9:331.82" MONDO:0007488 "UMLS:C0752347" @@ -67869,7 +66207,6 @@ MONDO:0007488 "EFO:0006792" MONDO:0007488 "SCTID:312991009" MONDO:0007488 "OMIM:127750" MONDO:0004922 "DOID:9923" -MONDO:0004922 "ICD10:F82" MONDO:0004922 "NCIT:C92561" MONDO:0004922 "MESH:D019957" MONDO:0004922 "UMLS:C0520947" @@ -67882,29 +66219,29 @@ MONDO:0021071 "EFO:0003817" MONDO:0021071 "MESH:D007822" MONDO:0021071 "SCTID:126692004" MONDO:0021071 "NCIT:C3156" -MONDO:0033204 "OMIM:617577" -MONDO:0033204 "DOID:0080266" -MONDO:0033204 "Orphanet:244" MONDO:0010889 "OMIM:600459" +MONDO:0010889 "ICD10CM:Q87.8" MONDO:0010889 "Orphanet:1682" MONDO:0010889 "UMLS:C1838122" -MONDO:0010889 "ICD10:Q87.8" MONDO:0010889 "MESH:C563937" +MONDO:0033204 "OMIM:617577" +MONDO:0033204 "DOID:0080266" +MONDO:0033204 "Orphanet:244" MONDO:0032626 "OMIM:618243" MONDO:0009560 "SCTID:703539006" MONDO:0009560 "UMLS:C1855425" MONDO:0009560 "MESH:C536022" MONDO:0009560 "ICD9:759.89" MONDO:0009560 "Orphanet:2717" -MONDO:0009560 "ICD10:Q87.8" MONDO:0009560 "OMIM:248450" MONDO:0009560 "GARD:0003395" +MONDO:0009560 "ICD10CM:Q87.8" MONDO:0005496 "UMLS:C0740277" MONDO:0005496 "EFO:0005540" MONDO:0005496 "DOID:4897" MONDO:0005496 "NCIT:C27814" MONDO:0019782 "Orphanet:94056" -MONDO:0019782 "ICD10:Q74.0" +MONDO:0019782 "ICD10CM:Q74.0" MONDO:0010028 "DOID:3659" MONDO:0010028 "MedDRA:10067529" MONDO:0010028 "GARD:0004865" @@ -67912,22 +66249,22 @@ MONDO:0010028 "ICD9:796.4" MONDO:0010028 "SCTID:238051008" MONDO:0010028 "Orphanet:3166" MONDO:0010028 "OMIM:604369" +MONDO:0010028 "ICD10CM:E77.8" MONDO:0010028 "NCIT:C85067" -MONDO:0010028 "ICD10:E77.8" MONDO:0010028 "OMIM:269921" -MONDO:0008872 "Orphanet:2637" -MONDO:0008872 "DOID:0060609" -MONDO:0008872 "OMIM:210720" -MONDO:0008872 "MESH:C565898" -MONDO:0008872 "ICD10:Q87.1" -MONDO:0008872 "SCTID:254103003" -MONDO:0008872 "GARD:0009844" MONDO:0002987 "SCTID:23615008" MONDO:0002987 "DOID:4406" MONDO:0002987 "EFO:1000768" MONDO:0002987 "UMLS:C0262984" MONDO:0002987 "ICD9:692.9" MONDO:0002987 "NCIT:C27037" +MONDO:0008872 "Orphanet:2637" +MONDO:0008872 "DOID:0060609" +MONDO:0008872 "OMIM:210720" +MONDO:0008872 "MESH:C565898" +MONDO:0008872 "SCTID:254103003" +MONDO:0008872 "ICD10CM:Q87.1" +MONDO:0008872 "GARD:0009844" MONDO:0014501 "OMIM:616118" MONDO:0014501 "UMLS:C4015286" MONDO:0003933 "NCIT:C6724" @@ -67935,11 +66272,11 @@ MONDO:0003933 "DOID:6579" MONDO:0003933 "UMLS:C1334572" MONDO:0008092 "MESH:C563010" MONDO:0008092 "SCTID:129639005" -MONDO:0008092 "UMLS:C0543669" MONDO:0008092 "Orphanet:279943" +MONDO:0008092 "UMLS:C0543669" +MONDO:0008092 "ICD10CM:D72.8" MONDO:0008092 "OMIM:162830" MONDO:0008092 "DOID:0090120" -MONDO:0008092 "ICD10:D72.8" NCBITaxon:36855 "GC_ID:11" MONDO:0014409 "UMLS:C4014745" MONDO:0014409 "OMIM:615942" @@ -67948,12 +66285,12 @@ MONDO:0012157 "GARD:0010108" MONDO:0012157 "DOID:0110679" MONDO:0012157 "OMIM:608931" MONDO:0032813 "OMIM:618559" -MONDO:0019626 "ICD10:Q10.3" +MONDO:0019626 "ICD10CM:Q10.3" MONDO:0019626 "Orphanet:91397" MONDO:0024652 "SCTID:302954008" -MONDO:0024652 "ICD10:Q50.4" -MONDO:0011469 "ICD10:D61.0" +MONDO:0024652 "ICD10CM:Q50.4" MONDO:0011469 "GARD:0000640" +MONDO:0011469 "ICD10CM:D61.0" MONDO:0011469 "NCIT:C115207" MONDO:0011469 "GARD:640" MONDO:0011469 "SCTID:716336002" @@ -67975,7 +66312,6 @@ MONDO:0005862 "MESH:D018777" MONDO:0005862 "DOID:4661" MONDO:0020264 "Orphanet:98694" MONDO:0006945 "UMLS:C0035066" -MONDO:0006945 "ICD10:N28.0" MONDO:0006945 "MESH:D012078" MONDO:0006945 "DOID:2972" MONDO:0006945 "EFO:1001150" @@ -67992,7 +66328,6 @@ MONDO:0033198 "Orphanet:90636" MONDO:0033198 "DOID:0080261" NCBITaxon:1647 "PMID:7537073" NCBITaxon:1647 "GC_ID:11" -MONDO:0013984 "ICD10:H90.3" MONDO:0013984 "DOID:0110530" MONDO:0013984 "OMIM:614944" MONDO:0013984 "UMLS:C3554159" @@ -68006,41 +66341,40 @@ MONDO:0016707 "ONCOTREE:ASTB" MONDO:0016707 "GARD:0010635" MONDO:0016707 "ICDO:9430/3" MONDO:0016707 "DOID:7305" -MONDO:0016707 "ICD10:C71.9" +MONDO:0016707 "ICD10CM:C71.9" MONDO:0016707 "MESH:D018302" MONDO:0016707 "UMLS:C0334587" +MONDO:0015401 "ICD10CM:Q27.3" MONDO:0015401 "Orphanet:141171" MONDO:0015401 "SCTID:703335004" -MONDO:0015401 "ICD10:Q27.3" MONDO:0020546 "SCTID:402355000" MONDO:0020546 "GARD:0006544" MONDO:0020546 "MedDRA:10066260" MONDO:0020546 "NCIT:C4980" +MONDO:0020546 "ICD10CM:D89.810" MONDO:0020546 "ICD9:279.51" MONDO:0020546 "Orphanet:99920" -MONDO:0020546 "ICD10:D89.810" MONDO:0020546 "UMLS:C0856825" MONDO:0020546 "UMLS:C0018133" -MONDO:0020546 "ICD10:T86.0" -MONDO:0020147 "ICD10:Q11.1" -MONDO:0020147 "ICD10:Q11.0" -MONDO:0020147 "ICD10:Q11.2" +MONDO:0020546 "ICD10CM:T86.0" +MONDO:0020147 "ICD10CM:Q11.2" +MONDO:0020147 "ICD10CM:Q11.0" MONDO:0020147 "UMLS:CN120488" +MONDO:0020147 "ICD10CM:Q11.1" MONDO:0020147 "Orphanet:98555" -MONDO:0001325 "ICD10:C60.1" MONDO:0001325 "ICD9:187.3" MONDO:0001325 "Orphanet:398043" +MONDO:0001325 "ICD10CM:C60.2" MONDO:0001325 "MESH:D010412" -MONDO:0001325 "ICD10:C60.9" -MONDO:0001325 "ICD10:C60.2" +MONDO:0001325 "ICD10CM:C60.8" MONDO:0001325 "NCIT:C7547" MONDO:0001325 "ICD9:187.4" MONDO:0001325 "UMLS:CN226091" MONDO:0001325 "DOID:11615" -MONDO:0001325 "ICD10:C60" -MONDO:0001325 "ICD10:C60.0" +MONDO:0001325 "ICD10CM:C60.0" MONDO:0001325 "SCTID:363516004" -MONDO:0001325 "ICD10:C60.8" +MONDO:0001325 "ICD10CM:C60.1" +MONDO:0001325 "ICD10CM:C60.9" MONDO:0002883 "DOID:4119" MONDO:0002883 "NCIT:C5695" MONDO:0002883 "UMLS:C1334231" @@ -68056,11 +66390,11 @@ MONDO:0000587 "DOID:0060030" MONDO:0016185 "Orphanet:209033" MONDO:0015896 "Orphanet:181405" CL:1000326 "FMA:263067" +MONDO:0016842 "ICD10CM:Q93.5" MONDO:0016842 "UMLS:CN202182" MONDO:0016842 "SCTID:724070005" MONDO:0016842 "UMLS:C4510306" MONDO:0016842 "Orphanet:261304" -MONDO:0016842 "ICD10:Q93.5" CL:0000451 "FMA:83036" CL:0000451 "BTO:0002042" CL:0000451 "CALOHA:TS-0194" @@ -68091,13 +66425,11 @@ NCBITaxon:2732529 "GC_ID:1" MONDO:0001191 "SCTID:64351000" MONDO:0001191 "DOID:11079" MONDO:0001191 "ICD9:134.2" -MONDO:0001191 "ICD10:B88.3" MONDO:0001191 "UMLS:C0019575" MONDO:0017587 "UMLS:CN203393" MONDO:0017587 "Orphanet:300512" MONDO:0008464 "NCIT:C75045" MONDO:0008464 "GARD:0007685" -MONDO:0008464 "ICD10:Q71.6" MONDO:0008464 "UMLS:C2931019" MONDO:0008464 "OMIM:183600" MONDO:0008464 "Orphanet:2440" @@ -68112,11 +66444,10 @@ MONDO:0022817 "GARD:0001471" MONDO:0001754 "SCTID:303063000" MONDO:0001754 "MESH:D004461" MONDO:0001754 "UMLS:C0156678" -MONDO:0001754 "ICD10:O15" MONDO:0001754 "GARD:0006316" MONDO:0001754 "ICD9:642.64" +MONDO:0001754 "ICD10CM:O15" MONDO:0001754 "UMLS:C0013537" -MONDO:0001754 "ICD10:O15.9" MONDO:0001754 "DOID:13593" MONDO:0001754 "NCIT:C87167" MONDO:0007657 "UMLS:C1842039" @@ -68125,7 +66456,6 @@ NCBITaxon:169455 "GC_ID:1" MONDO:0019080 "OMIM:300042" MONDO:0019080 "OMIM:104000" MONDO:0019080 "UMLS:C0263504" -MONDO:0019080 "ICD10:L63.0" MONDO:0019080 "Orphanet:700" MONDO:0019080 "MedDRA:10001766" MONDO:0019080 "OMIM:610753" @@ -68143,12 +66473,11 @@ MONDO:0014892 "UMLS:C4310740" MONDO:0014892 "OMIM:617061" MONDO:0014892 "Orphanet:476126" MONDO:0014892 "DOID:0070074" -MONDO:0017082 "ICD10:Q01.8" +MONDO:0017082 "ICD10CM:Q01.8" MONDO:0017082 "Orphanet:268829" MONDO:0017082 "UMLS:C4023176" MONDO:0000995 "SCTID:267607008" MONDO:0000995 "DOID:1029" -MONDO:0000995 "ICD10:G72.3" MONDO:0000995 "NCIT:C84709" MONDO:0000995 "MESH:D010245" MONDO:0000995 "GARD:0006422" @@ -68159,13 +66488,12 @@ MONDO:0006898 "MESH:D010489" MONDO:0006898 "MedDRA:10034464" MONDO:0006898 "DOID:2964" MONDO:0006898 "UMLS:C0031037" -MONDO:0006898 "ICD10:M77.9" MONDO:0000483 "DOID:0050842" MONDO:0000136 "OMIM:308800" MONDO:0000136 "GARD:0006829" MONDO:0000136 "MESH:C536159" MONDO:0000136 "SCTID:238626006" -MONDO:0000136 "ICD10:Q82.8" +MONDO:0000136 "ICD10CM:Q82.8" MONDO:0000136 "OMIM:604093" MONDO:0000136 "ICD9:757.39" MONDO:0000136 "Orphanet:2340" @@ -68179,10 +66507,10 @@ MONDO:0002336 "ICD9:357.9" MONDO:0006078 "EFO:1000077" MONDO:0006078 "UMLS:C0281241" MONDO:0006078 "NCIT:C8284" +MONDO:0017645 "Orphanet:306715" NCBITaxon:848 "GC_ID:11" NCBITaxon:848 "PMID:1715737" NCBITaxon:848 "PMID:11931161" -MONDO:0017645 "Orphanet:306715" MONDO:0015709 "UMLS:CN200213" MONDO:0015709 "Orphanet:169355" CL:0002200 "FMA:87169" @@ -68190,7 +66518,7 @@ MONDO:0005712 "EFO:0007217" MONDO:0005712 "Orphanet:651" MONDO:0005712 "OMIM:164100" MONDO:0005712 "OMIMPS:310700" -MONDO:0005712 "ICD10:H55.01" +MONDO:0005712 "ICD10CM:H55.01" MONDO:0005712 "SCTID:64635004" MONDO:0005712 "OMIM:300589" MONDO:0005712 "ICD9:379.51" @@ -68207,8 +66535,8 @@ MONDO:0015200 "MESH:D017129" MONDO:0015200 "Orphanet:1070" MONDO:0015200 "SCTID:442652006" MONDO:0015200 "ICD9:127.1" -MONDO:0015200 "ICD10:B81.0" MONDO:0015200 "NCIT:C128393" +MONDO:0015200 "ICD10CM:B81.0" MONDO:0015200 "DOID:7033" MONDO:0015200 "MedDRA:10002533" MONDO:0015200 "UMLS:C0162576" @@ -68217,7 +66545,7 @@ MONDO:0011248 "OMIM:602553" MONDO:0011248 "SCTID:763527007" MONDO:0011248 "Orphanet:1590" MONDO:0011248 "UMLS:C1865208" -MONDO:0011248 "ICD10:Q93.5" +MONDO:0011248 "ICD10CM:Q93.5" MONDO:0012322 "OMIM:609637" MONDO:0012322 "MESH:C566464" MONDO:0012322 "DOID:0110878" @@ -68229,7 +66557,6 @@ MONDO:0013880 "Orphanet:306530" MONDO:0013880 "UMLS:C3553625" MONDO:0003569 "NCIT:C26733" MONDO:0003569 "UMLS:C0010266" -MONDO:0003569 "ICD10:G52.9" MONDO:0003569 "DOID:5656" MONDO:0003569 "ICD9:352.9" MONDO:0003569 "MESH:D003389" @@ -68277,7 +66604,6 @@ MONDO:0024496 "NCIT:C94678" MONDO:0002181 "DOID:203" MONDO:0002181 "UMLS:C1442903" MONDO:0002181 "UMLS:C1956089" -MONDO:0002181 "ICD10:M27.8" MONDO:0002181 "ICD9:726.91" MONDO:0002181 "SCTID:235231000119100" MONDO:0002181 "NCIT:C3029" @@ -68288,21 +66614,20 @@ MONDO:0018132 "Orphanet:352687" MONDO:0009454 "Orphanet:2268" MONDO:0009454 "NCIT:C156430" MONDO:0009454 "DOID:0090008" -MONDO:0009454 "ICD10:D84.8" MONDO:0009454 "OMIM:242860" MONDO:0010551 "DOID:0110211" -MONDO:0010551 "ICD10:G60.0" MONDO:0010551 "Orphanet:101077" MONDO:0010551 "MESH:C535303" MONDO:0010551 "UMLS:C1844865" MONDO:0010551 "SCTID:763458005" MONDO:0010551 "OMIM:302802" MONDO:0010551 "GARD:0001244" +MONDO:0010551 "ICD10CM:G60.0" MONDO:0009716 "Orphanet:3101" MONDO:0009716 "GARD:0004709" MONDO:0009716 "OMIM:255710" +MONDO:0009716 "ICD10CM:Q87.8" MONDO:0009716 "UMLS:C2930978" -MONDO:0009716 "ICD10:Q87.8" MONDO:0009716 "MESH:C535675" CL:0002194 "FMA:83552" MONDO:0010928 "GARD:0010610" @@ -68314,7 +66639,7 @@ MONDO:0021284 "NCIT:C4529" MONDO:0021284 "SCTID:92782006" MONDO:0021284 "UMLS:C0346267" MONDO:0016350 "Orphanet:2186" -MONDO:0016350 "ICD10:Q87.8" +MONDO:0016350 "ICD10CM:Q87.8" MONDO:0007601 "MESH:C565021" MONDO:0007601 "OMIM:134610" MONDO:0007601 "UMLS:C1851347" @@ -68327,8 +66652,8 @@ HP:0002099 "UMLS:C3714497" MONDO:0011992 "MESH:C536861" MONDO:0011992 "UMLS:C4518003" MONDO:0011992 "DOID:0110776" -MONDO:0011992 "ICD10:G11.4" MONDO:0011992 "GARD:0009582" +MONDO:0011992 "ICD10CM:G11.4" MONDO:0011992 "Orphanet:101005" MONDO:0011992 "UMLS:C2936860" MONDO:0011992 "SCTID:732933009" @@ -68353,42 +66678,31 @@ MONDO:0021167 "EFO:0000783" MONDO:0021167 "MESH:D009220" MONDO:0021167 "OMIM:160750" MONDO:0021167 "DOID:633" -MONDO:0021167 "ICD10:M60" -MONDO:0021167 "UMLS_CUI:C0027121" MONDO:0021167 "ICD9:728.9" MONDO:0021167 "NCIT:C27578" -MONDO:0021167 "ICD10:G72.49" -MONDO:0021167 "ICD10:M60.9" MONDO:0022113 "UMLS:C1274708" MONDO:0022113 "GARD:0010826" MONDO:0022113 "ICD9:704.09" MONDO:0022113 "SCTID:109441000119102" MONDO:0022113 "OMIM:618352" -MONDO:0003630 "ICD10:C25.0" -MONDO:0003630 "ICD10:C25.2" -MONDO:0003630 "ICD10:C25.1" MONDO:0003630 "UMLS:C1335315" MONDO:0003630 "DOID:5751" -MONDO:0003630 "ICD10:C25.8" MONDO:0003630 "NCIT:C5724" MONDO:0003630 "Orphanet:424073" -MONDO:0003630 "ICD10:C25.7" MONDO:0001052 "UMLS:C0155396" MONDO:0001052 "ICD9:380.15" MONDO:0001052 "SCTID:111898002" MONDO:0001052 "DOID:10519" MONDO:0017752 "Orphanet:309778" -MONDO:0017752 "ICD10:E77.8" +MONDO:0017752 "ICD10CM:E77.8" MONDO:0043280 "GARD:0007875" MONDO:0043280 "MESH:D014855" MONDO:0043280 "NCIT:C85223" MONDO:0019878 "Orphanet:96095" MONDO:0019878 "UMLS:CN206814" -MONDO:0019878 "ICD10:Q92.3" MONDO:0013312 "UMLS:C3150808" MONDO:0013312 "OMIM:613575" MONDO:0013312 "DOID:0110370" -MONDO:0013312 "ICD10:H35.5" MONDO:0019019 "OMIM:259440" MONDO:0019019 "OMIM:615066" MONDO:0019019 "OMIM:615220" @@ -68397,7 +66711,6 @@ MONDO:0019019 "GARD:0001017" MONDO:0019019 "SCTID:385482004" MONDO:0019019 "OMIM:259420" MONDO:0019019 "NCIT:C99003" -MONDO:0019019 "ICD10:Q78.0" MONDO:0019019 "OMIM:610967" MONDO:0019019 "OMIM:616507" MONDO:0019019 "NCIT:C26837" @@ -68420,8 +66733,8 @@ MONDO:0019019 "OMIM:614856" MONDO:0019019 "OMIM:610968" MONDO:0019019 "Orphanet:666" MONDO:0019019 "OMIM:613982" +MONDO:0019019 "ICD10CM:Q78.0" MONDO:0019019 "OMIM:166230" -MONDO:0003231 "ICD10:A80.4" MONDO:0003231 "DOID:4986" MONDO:0003231 "UMLS:C0152998" MONDO:0003231 "ICD9:045.22" @@ -68429,11 +66742,12 @@ MONDO:0003231 "ICD9:045.20" MONDO:0003231 "ICD9:045.2" MONDO:0003231 "ICD9:045.23" MONDO:0003231 "SCTID:14535005" +MONDO:0003231 "ICD10CM:A80.4" MONDO:0018826 "GARD:0013070" MONDO:0018826 "Orphanet:48162" MONDO:0018826 "MedDRA:10065580" -MONDO:0018826 "ICD10:G61.8" MONDO:0018826 "UMLS:C1695985" +MONDO:0018826 "ICD10CM:G61.8" MONDO:0032878 "OMIM:618718" MONDO:0005947 "MESH:D011022" MONDO:0005947 "UMLS:C0032307" @@ -68444,23 +66758,24 @@ MONDO:0009046 "SCTID:204102004" MONDO:0009046 "MESH:D058497" MONDO:0009046 "GARD:0006465" MONDO:0009046 "NCIT:C118436" +MONDO:0009046 "ICD10CM:Q87.0" MONDO:0009046 "UMLS:C0265233" +MONDO:0009046 "OMIM:219000" MONDO:0009046 "Orphanet:2052" -MONDO:0009046 "ICD10:Q87.0" MONDO:0009046 "OMIMPS:219000" MONDO:0009046 "DOID:0090001" CL:0000021 "ncithesaurus:Egg" CL:0000021 "MA:0000388" CL:0000021 "VHOG:0001530" MONDO:0010143 "GARD:0001516" +MONDO:0010143 "ICD10CM:Q82.8" MONDO:0010143 "DOID:0060762" MONDO:0010143 "SCTID:400128006" MONDO:0010143 "UMLS:C0406585" -MONDO:0010143 "ICD10:Q82.8" MONDO:0010143 "Orphanet:1662" MONDO:0010143 "OMIM:275210" MONDO:0010143 "MESH:C536920" -MONDO:0014753 "ICD10:H47.2" +MONDO:0014753 "ICD10CM:H47.2" MONDO:0014753 "OMIM:612989" MONDO:0014753 "OMIM:616289" MONDO:0014753 "OMIM:258500" @@ -68470,10 +66785,10 @@ MONDO:0014753 "UMLS:CN229293" MONDO:0014753 "Orphanet:98676" MONDO:0015090 "Orphanet:100982" MONDO:0015090 "UMLS:CN228910" -MONDO:0015090 "ICD10:G11.4" +MONDO:0015090 "ICD10CM:G11.4" NCBITaxon:56211 "GC_ID:1" MONDO:0016868 "Orphanet:261776" -MONDO:0016868 "ICD10:Q93.5" +MONDO:0016868 "ICD10CM:Q93.5" MONDO:0004545 "DOID:8369" MONDO:0004545 "NCIT:C7814" MONDO:0004545 "UMLS:C0278622" @@ -68483,8 +66798,8 @@ MONDO:0002501 "EFO:0006545" MONDO:0002501 "UMLS:C0349543" MONDO:0002501 "DOID:3073" MONDO:0002501 "SCTID:276828006" +MONDO:0009233 "ICD10CM:Q87.8" MONDO:0009233 "UMLS:C1856727" -MONDO:0009233 "ICD10:Q87.8" MONDO:0009233 "SCTID:716094008" MONDO:0009233 "MESH:C537226" MONDO:0009233 "Orphanet:2256" @@ -68505,7 +66820,6 @@ MONDO:0011413 "OMIM:604219" MONDO:0011413 "UMLS:C1858679" MONDO:0011413 "Orphanet:98995" MONDO:0011413 "Orphanet:1377" -MONDO:0011413 "ICD10:Q12.0" MONDO:0011413 "Orphanet:91492" MONDO:0015161 "Orphanet:102285" MONDO:0022998 "UMLS:C2931342" @@ -68513,22 +66827,22 @@ MONDO:0022998 "MESH:C536814" MONDO:0007992 "UMLS:C1834935" MONDO:0007992 "Orphanet:2536" MONDO:0007992 "OMIM:156700" +MONDO:0007992 "ICD10CM:Q15.8" MONDO:0007992 "GARD:0003637" MONDO:0007992 "MESH:C537552" -MONDO:0007992 "ICD10:Q15.8" MONDO:0017340 "Orphanet:289596" +MONDO:0017340 "ICD10CM:D10.6" MONDO:0017340 "UMLS:C1367536" MONDO:0017340 "UMLS:CN202999" MONDO:0017340 "NCIT:C27479" -MONDO:0017340 "ICD10:D10.6" MONDO:0017340 "SCTID:716590006" MONDO:0017340 "HP:0030429" MONDO:0012986 "GARD:0010785" MONDO:0012986 "OMIM:612691" MONDO:0012986 "Orphanet:208441" -MONDO:0012986 "ICD10:Q04.3" MONDO:0012986 "Orphanet:268940" MONDO:0012986 "MESH:C567201" +MONDO:0012986 "ICD10CM:Q04.3" MONDO:0012986 "UMLS:C2675191" MONDO:0032586 "OMIM:618183" MONDO:0021932 "GARD:0008540" @@ -68538,7 +66852,7 @@ MONDO:0021932 "ICD9:086.3" MONDO:0021932 "SCTID:75809006" MONDO:0010401 "Orphanet:98863" MONDO:0010401 "DOID:0070251" -MONDO:0010401 "ICD10:G71.0" +MONDO:0010401 "ICD10CM:G71.0" MONDO:0010401 "UMLS:C2678055" MONDO:0010401 "Orphanet:261" MONDO:0010401 "OMIM:300696" @@ -68549,8 +66863,8 @@ MONDO:0012166 "DOID:0111170" MONDO:0002159 "DOID:1965" MONDO:0002159 "UMLS:C1517116" MONDO:0002159 "NCIT:C40128" -MONDO:0024318 "ICD10:A80.A89" MONDO:0024318 "MESH:D020805" +MONDO:0024318 "ICD10CM:A80-A89" MONDO:0024318 "SCTID:302810003" MONDO:0024318 "UMLS:C0348165" MONDO:0008677 "OMIM:194000" @@ -68559,35 +66873,31 @@ MONDO:0006590 "GARD:0008167" MONDO:0006590 "SCTID:706885006" MONDO:0006590 "EFO:1000745" MONDO:0006590 "ICD9:757.39" -MONDO:0006590 "ICD10:L85.2" MONDO:0006590 "DOID:3390" MONDO:0006590 "NCIT:C34748" MONDO:0018742 "Orphanet:464756" MONDO:0018742 "UMLS:CN242170" MONDO:0014345 "UMLS:C4014312" -MONDO:0014345 "ICD10:H35.5" MONDO:0014345 "OMIM:615780" MONDO:0014345 "DOID:0110410" MONDO:0013282 "OMIM:613490" MONDO:0013282 "Orphanet:60" MONDO:0013282 "ICD9:273.4" +MONDO:0013282 "ICD10CM:E88.0" MONDO:0013282 "MedDRA:10001806" MONDO:0013282 "SCTID:30188007" MONDO:0013282 "GARD:0005784" MONDO:0013282 "UMLS:C0221757" MONDO:0013282 "NCIT:C84397" -MONDO:0013282 "ICD10:E88.0" -MONDO:0013282 "ICD10:E88.01" +MONDO:0013282 "ICD10CM:E88.01" MONDO:0013282 "DOID:13372" MONDO:0013282 "MESH:D019896" MONDO:0021063 "ICD9:153.8" MONDO:0021063 "NCIT:C9242" -MONDO:0021063 "ICD10:C18" MONDO:0021063 "ICD9:153" MONDO:0021063 "UMLS:C0007102" MONDO:0021063 "ICD9:153.9" MONDO:0021063 "SCTID:363406005" -MONDO:0021063 "ICD10:C18.9" MONDO:0021063 "DOID:219" MONDO:0012353 "OMIM:609820" MONDO:0012353 "DOID:0080338" @@ -68604,16 +66914,16 @@ MONDO:0015573 "MedDRA:10057903" MONDO:0015573 "UMLS:C0024140" MONDO:0015573 "NCIT:C117111" MONDO:0015573 "Orphanet:163525" -MONDO:0015573 "ICD10:L93.1" +MONDO:0015573 "ICD10CM:L93.1" MONDO:0006937 "SCTID:32620007" MONDO:0006937 "MESH:D011671" MONDO:0006937 "EFO:1001139" MONDO:0006937 "ICD9:522.0" MONDO:0006937 "UMLS:C0034103" MONDO:0006937 "DOID:11121" +MONDO:0006937 "ICD10CM:K04.0" MONDO:0006937 "MedDRA:10037463" MONDO:0006937 "NCIT:C52595" -MONDO:0006937 "ICD10:K04.0" MONDO:0011133 "OMIM:601706" MONDO:0011133 "Orphanet:3214" MONDO:0011133 "MESH:C536771" @@ -68622,23 +66932,22 @@ MONDO:0011133 "GARD:0005535" MONDO:0011133 "SCTID:721084001" MONDO:0032820 "OMIM:618577" MONDO:0015410 "Orphanet:141219" -MONDO:0015410 "ICD10:Q18.8" +MONDO:0015410 "ICD10CM:Q18.8" +MONDO:0010395 "ICD10CM:E79.8" MONDO:0010395 "MESH:C567064" -MONDO:0010395 "ICD10:E79.8" MONDO:0010395 "UMLS:C1970827" MONDO:0010395 "OMIM:300661" MONDO:0010395 "SCTID:723454008" MONDO:0010395 "Orphanet:3222" MONDO:0010395 "DOID:0111260" -MONDO:0020460 "MEDDRA:10069495" MONDO:0020460 "GARD:5573" -MONDO:0020460 "ICD10:D68.4" -MONDO:0020460 "GARD:0005573" MONDO:0020460 "UMLS:C0272362" +MONDO:0020460 "GARD:0005573" MONDO:0020460 "PMID:28028990" MONDO:0020460 "DOID:0111146" MONDO:0020460 "MedDRA:10069495" MONDO:0020460 "Orphanet:99147" +MONDO:0020460 "ICD10CM:D68.4" MONDO:0020460 "SCTID:234451005" MONDO:0005535 "SCTID:196578009" MONDO:0005535 "UMLS:C0399497" @@ -68658,7 +66967,6 @@ MONDO:0012574 "UMLS:C2931246" MONDO:0012574 "DOID:0060853" MONDO:0012574 "OMIM:610883" MONDO:0012574 "SCTID:734016004" -MONDO:0012574 "ICD10:Q92.3" MONDO:0012574 "GARD:0010145" MONDO:0012574 "Orphanet:1713" MONDO:0012574 "NCIT:C124846" @@ -68669,13 +66977,12 @@ MONDO:0005949 "UMLS:C0376549" MONDO:0003905 "UMLS:C1518747" MONDO:0003905 "NCIT:C39988" MONDO:0003905 "DOID:6511" -MONDO:0019531 "ICD10:D55.1" +MONDO:0019531 "ICD10CM:D55.1" MONDO:0019531 "OMIM:618660" MONDO:0019531 "Orphanet:90030" MONDO:0008269 "OMIM:174400" MONDO:0008269 "Orphanet:93339" MONDO:0008269 "SCTID:445216006" -MONDO:0008269 "ICD10:Q69.1" MONDO:0008269 "GARD:0004417" MONDO:0008269 "MESH:C536332" MONDO:0044638 "Orphanet:494547" @@ -68697,19 +67004,19 @@ MONDO:0021559 "SCTID:191216004" MONDO:0021559 "ICD9:283.19" MONDO:0021559 "ICD9:283.10" MONDO:0021559 "NCIT:C34853" -MONDO:0015396 "ICD10:Q31.8" MONDO:0015396 "SCTID:765763007" +MONDO:0015396 "ICD10CM:Q31.8" MONDO:0015396 "Orphanet:141124" MONDO:0015396 "UMLS:C0339880" MONDO:0017596 "UMLS:C2026186" MONDO:0017596 "ICDO:9680/3" +MONDO:0017596 "ICD10CM:C83.3" MONDO:0017596 "SCTID:734066005" MONDO:0017596 "NCIT:C71720" MONDO:0017596 "Orphanet:300849" -MONDO:0017596 "ICD10:C83.3" -MONDO:0019152 "ICD10:H53.6" MONDO:0019152 "OMIM:613411" MONDO:0019152 "OMIM:258100" +MONDO:0019152 "ICD10CM:H53.6" MONDO:0019152 "Orphanet:75382" MONDO:0019152 "GARD:0010118" MONDO:0019152 "MESH:C537743" @@ -68736,9 +67043,9 @@ MONDO:0006193 "SCTID:134031000119108" MONDO:0006193 "ICD9:621.34" MONDO:0001724 "DOID:13476" MONDO:0001724 "SCTID:187842004" -MONDO:0001724 "ICD10:C32.1" MONDO:0001724 "NCIT:C3545" MONDO:0001724 "ICD9:161.1" +MONDO:0001724 "ICD10CM:C32.1" MONDO:0001724 "UMLS:C0153484" MONDO:0006022 "SCTID:51387008" MONDO:0006022 "HP:0001941" @@ -68767,7 +67074,7 @@ HP:0002315 "SNOMEDCT_US:25064002" HP:0002315 "UMLS:C0018681" HP:0002315 "MSH:D006261" MONDO:0013061 "MESH:C567843" -MONDO:0013061 "ICD10:G71.8" +MONDO:0013061 "ICD10CM:G71.8" MONDO:0013061 "DOID:0080097" MONDO:0013061 "Orphanet:199340" MONDO:0013061 "OMIM:612954" @@ -68781,7 +67088,7 @@ MONDO:0004064 "UMLS:CN204945" MONDO:0004064 "SCTID:255012009" MONDO:0015005 "UMLS:C4310632" MONDO:0015005 "OMIM:617290" -MONDO:0016563 "ICD10:G23.1" +MONDO:0016563 "ICD10CM:G23.1" MONDO:0016563 "UMLS:CN201681" MONDO:0016563 "Orphanet:240103" MONDO:0001911 "DOID:14224" @@ -68796,29 +67103,23 @@ MONDO:0005010 "OMIM:614466" MONDO:0005010 "MESH:D003324" MONDO:0005010 "OMIM:607339" MONDO:0005010 "OMIM:608318" -MONDO:0005010 "ICD10:I25.1" MONDO:0005010 "ICD9:414.9" MONDO:0005010 "ICD9:410-414.99" MONDO:0005010 "NCIT:C35505" MONDO:0005010 "OMIM:608901" MONDO:0005010 "EFO:0001645" MONDO:0005010 "OMIM:611139" -MONDO:0005010 "ICD10:I25.10" MONDO:0005010 "SCTID:414024009" MONDO:0005010 "OMIM:610947" MONDO:0005010 "MESH:D017202" MONDO:0005010 "UMLS:C1956346" MONDO:0005010 "GARD:0011944" -MONDO:0005010 "SCTID:443502000" MONDO:0005010 "OMIM:608320" -MONDO:0005010 "ICD10:I25" +MONDO:0005010 "SCTID:443502000" MONDO:0005010 "OMIM:612030" -MONDO:0005010 "ICD10:I25.9" MONDO:0005010 "DOID:3393" -MONDO:0005010 "ICD10:K76.1" MONDO:0005010 "OMIM:614293" MONDO:0005010 "OMIM:300464" -MONDO:0005010 "ICD10:I20-I25" MONDO:0005010 "OMIM:608316" MONDO:0005010 "NCIT:C26732" MONDO:0005010 "ICD9:414.0" @@ -68831,8 +67132,8 @@ MONDO:0007853 "MESH:C536153" MONDO:0007853 "Orphanet:2201" MONDO:0007853 "Orphanet:538574" MONDO:0000849 "DOID:0080040" -MONDO:0009038 "ICD10:Q87.2" MONDO:0009038 "SCTID:732250002" +MONDO:0009038 "ICD10CM:Q87.2" MONDO:0009038 "Orphanet:1533" MONDO:0009038 "MESH:C565665" MONDO:0009038 "OMIM:218550" @@ -68840,10 +67141,10 @@ MONDO:0009038 "UMLS:C1857492" MONDO:0033810 "Orphanet:519392" MONDO:0016400 "Orphanet:225692" MONDO:0016400 "UMLS:CN226914" -MONDO:0019917 "ICD10:Q99.8" MONDO:0019917 "Orphanet:96186" MONDO:0019917 "OMIM:617352" MONDO:0019917 "DOID:0111714" +MONDO:0019917 "ICD10CM:Q99.8" MONDO:0019917 "SCTID:715735007" MONDO:0010174 "SCTID:47719001" MONDO:0010174 "GARD:0007845" @@ -68853,8 +67154,8 @@ MONDO:0010174 "UMLS:C0268573" NCBITaxon:2085 "GC_ID:4" NCBITaxon:2085 "PMID:16350067" MONDO:0009905 "Orphanet:3409" +MONDO:0009905 "ICD10CM:Q87.8" MONDO:0009905 "GARD:0005426" -MONDO:0009905 "ICD10:Q87.8" MONDO:0009905 "SCTID:716334004" MONDO:0009905 "MESH:C538276" MONDO:0009905 "OMIM:264010" @@ -68864,16 +67165,16 @@ MONDO:0016446 "Orphanet:228285" MONDO:0016446 "UMLS:C0406549" MONDO:0013568 "OMIM:614090" MONDO:0013568 "Orphanet:166282" +MONDO:0008842 "ICD10CM:G11.3" MONDO:0008842 "OMIM:208920" MONDO:0008842 "MESH:C538013" -MONDO:0008842 "ICD10:G11.3" MONDO:0008842 "DOID:0050754" MONDO:0008842 "UMLS:C1859598" MONDO:0008842 "GARD:0009283" MONDO:0008842 "Orphanet:1168" NCBITaxon:786 "GC_ID:11" -MONDO:0017145 "ICD10:D56.1" MONDO:0017145 "Orphanet:275749" +MONDO:0017145 "ICD10CM:D56.1" MONDO:0017145 "UMLS:CN202571" MONDO:0006939 "SCTID:45816000" MONDO:0006939 "UMLS:C0034186" @@ -68881,36 +67182,30 @@ MONDO:0006939 "DOID:11400" MONDO:0006939 "NCIT:C34965" MONDO:0006939 "ICD9:590.80" MONDO:0006939 "MedDRA:10037596" -MONDO:0006939 "ICD10:N10-N16" -MONDO:0006939 "ICD10:N12" MONDO:0006939 "EFO:1001141" MONDO:0006939 "GARD:0012020" -MONDO:0006939 "ICD10:N16" MONDO:0006939 "MESH:D011704" MONDO:0017802 "SCTID:765190005" -MONDO:0017802 "ICD10:D27" +MONDO:0017802 "ICD10CM:D27" MONDO:0017802 "UMLS:CN203762" MONDO:0017802 "Orphanet:314478" MONDO:0013828 "DOID:0060697" -MONDO:0013828 "ICD10:G25.8" MONDO:0013828 "UMLS:C3553291" MONDO:0013828 "Orphanet:3197" MONDO:0013828 "OMIM:614619" MONDO:0020695 "NCIT:C116906" MONDO:0020695 "SCTID:192958009" MONDO:0001230 "ICD9:376.00" -MONDO:0001230 "ICD10:H05.00" -MONDO:0001230 "ICD10:H05.0" MONDO:0001230 "DOID:11230" MONDO:0001230 "ICD9:376.0" MONDO:0001230 "SCTID:20551005" MONDO:0009259 "Orphanet:33574" MONDO:0009259 "OMIM:230450" MONDO:0009259 "SCTID:36799008" -MONDO:0009259 "ICD10:D55.1" MONDO:0009259 "DOID:0111681" MONDO:0009259 "ICD9:270.8" MONDO:0009259 "MESH:C565557" +MONDO:0009259 "ICD10CM:D55.1" MONDO:0032822 "OMIM:618580" HP:0100606 "UMLS:C0035244" HP:0100606 "SNOMEDCT_US:126667002" @@ -68921,7 +67216,6 @@ MONDO:0005180 "OMIM:613164" MONDO:0005180 "Orphanet:319705" MONDO:0005180 "OMIMPS:168600" MONDO:0005180 "ICD9:332.0" -MONDO:0005180 "ICD10:G20" MONDO:0005180 "SCTID:49049000" MONDO:0005180 "OMIM:602404" MONDO:0005180 "OMIM:556500" @@ -68943,10 +67237,9 @@ MONDO:0017028 "Orphanet:264745" MONDO:0017028 "UMLS:CN202340" MONDO:0018586 "Orphanet:439196" MONDO:0018586 "SCTID:762543009" +MONDO:0018586 "ICD10CM:L53.8" MONDO:0018586 "UMLS:CN237615" -MONDO:0018586 "ICD10:L53.8" MONDO:0008380 "MedDRA:10038916" -MONDO:0008380 "ICD10:C69.2" MONDO:0008380 "NCIT:C7541" MONDO:0008380 "Orphanet:790" MONDO:0008380 "ONCOTREE:RBL" @@ -68962,9 +67255,6 @@ MONDO:0004758 "ICD9:368.42" MONDO:0004758 "ICD9:368.43" MONDO:0004758 "DOID:9335" MONDO:0004758 "MESH:D012607" -MONDO:0004758 "ICD10:H53.45" -MONDO:0004758 "ICD10:H53.42" -MONDO:0004758 "ICD10:H53.43" MONDO:0004758 "HP:0000575" MONDO:0004758 "ICD9:368.44" MONDO:0004758 "ICD9:368.45" @@ -68980,21 +67270,21 @@ MONDO:0010560 "DOID:0060613" MONDO:0010560 "Orphanet:324601" MONDO:0010560 "GARD:0001394" MONDO:0010560 "MESH:C536426" -MONDO:0010560 "ICD10:Q35.9" +MONDO:0010560 "ICD10CM:Q35.9" MONDO:0010560 "OMIM:303400" MONDO:0011797 "Orphanet:293168" +MONDO:0011797 "ICD10CM:G12.2" MONDO:0011797 "MESH:C537217" MONDO:0011797 "OMIM:607225" MONDO:0011797 "UMLS:C2931441" MONDO:0011797 "GARD:0004914" -MONDO:0011797 "ICD10:G12.2" MONDO:0011797 "SCTID:703543005" MONDO:0011797 "ICD9:343.8" HP:0012649 "UMLS:C4022803" -MONDO:0016016 "ICD10:Q86.8" MONDO:0016016 "UMLS:C2931737" MONDO:0016016 "Orphanet:1920" MONDO:0016016 "MESH:C538114" +MONDO:0016016 "ICD10CM:Q86.8" MONDO:0016016 "GARD:0002672" MONDO:0009782 "MESH:C564927" MONDO:0009782 "OMIM:258400" @@ -69002,51 +67292,50 @@ MONDO:0009782 "UMLS:C1850314" MONDO:0014337 "DOID:0090135" MONDO:0014337 "OMIM:615763" MONDO:0014337 "UMLS:C3810407" +MONDO:0015903 "ICD10CM:E78.4" MONDO:0015903 "Orphanet:181428" MONDO:0015903 "ICD9:272.4" -MONDO:0015903 "ICD10:E78.4" MONDO:0015903 "UMLS:C0342883" MONDO:0015903 "NCIT:C128806" MONDO:0015903 "SCTID:238080004" MONDO:0010090 "SCTID:733606001" MONDO:0010090 "Orphanet:3210" +MONDO:0010090 "ICD10CM:Q82.0" MONDO:0010090 "GARD:0000127" MONDO:0010090 "OMIM:272350" -MONDO:0010090 "ICD10:Q82.0" MONDO:0010090 "MESH:C538142" MONDO:0010090 "UMLS:C1802405" -MONDO:0017249 "ICD10:Q33.0" MONDO:0017249 "Orphanet:280832" +MONDO:0017249 "ICD10CM:Q33.0" MONDO:0001726 "SCTID:71961003" MONDO:0001726 "ICD9:299.1" MONDO:0001726 "SCTID:61831009" MONDO:0001726 "DOID:13487" MONDO:0001726 "NCIT:C97164" -MONDO:0001726 "ICD10:F84.3" MONDO:0001726 "UMLS:C0236791" MONDO:0018952 "MedDRA:10003094" MONDO:0018952 "MESH:D001129" -MONDO:0018952 "ICD10:T56.8" MONDO:0018952 "Orphanet:60014" +MONDO:0018952 "ICD10CM:T56.8" MONDO:0008716 "Orphanet:2500" MONDO:0008716 "MESH:C538187" MONDO:0008716 "UMLS:C0406584" MONDO:0008716 "ICD9:259.8" -MONDO:0008716 "ICD10:L90.8" MONDO:0008716 "GARD:0006543" +MONDO:0008716 "ICD10CM:L90.8" MONDO:0008716 "UMLS:C0238590" MONDO:0008716 "SCTID:238872007" MONDO:0008716 "OMIM:201200" MONDO:0015257 "Orphanet:1260" MONDO:0015257 "UMLS:CN199152" -MONDO:0015257 "ICD10:I45.5" +MONDO:0015257 "ICD10CM:I45.5" MONDO:0012379 "OMIM:609958" MONDO:0030438 "OMIM:619527" -MONDO:0007519 "ICD10:Q95.2" MONDO:0007519 "GARD:0002074" MONDO:0007519 "MESH:C563051" MONDO:0007519 "OMIM:129850" MONDO:0007519 "UMLS:C0795933" +MONDO:0007519 "ICD10CM:Q95.2" MONDO:0007519 "Orphanet:1895" MONDO:0002298 "SCTID:403970001" MONDO:0002298 "DOID:2435" @@ -69056,10 +67345,10 @@ MONDO:0018998 "OMIM:613835" MONDO:0018998 "OMIM:611755" MONDO:0018998 "OMIM:614186" MONDO:0018998 "GARD:0000634" -MONDO:0018998 "ICD10:H35.5" MONDO:0018998 "OMIM:613829" MONDO:0018998 "OMIM:604393" MONDO:0018998 "OMIM:604232" +MONDO:0018998 "ICD10CM:H35.5" MONDO:0018998 "OMIM:604537" MONDO:0018998 "OMIM:613843" MONDO:0018998 "OMIM:179900" @@ -69088,9 +67377,9 @@ MONDO:0008621 "OMIM:617251" MONDO:0008621 "MESH:C536939" MONDO:0008621 "Orphanet:1410" MONDO:0008621 "GARD:0005404" -MONDO:0008621 "ICD10:Q84.1" MONDO:0008621 "OMIM:617252" MONDO:0008621 "OMIM:191480" +MONDO:0008621 "ICD10CM:Q84.1" MONDO:0008621 "UMLS:C0432347" MONDO:0008621 "SCTID:254230001" MONDO:0000967 "NCIT:C27530" @@ -69104,14 +67393,14 @@ MONDO:0010208 "ICD9:259.8" MONDO:0010208 "SCTID:238875009" MONDO:0010208 "UMLS:C0406587" MONDO:0010208 "Orphanet:357058" -MONDO:0010208 "ICD10:Q82.8" +MONDO:0010208 "ICD10CM:Q82.8" MONDO:0016635 "UMLS:CN226985" MONDO:0016635 "Orphanet:248368" MONDO:0019509 "GARD:0007851" -MONDO:0019509 "ICD10:M31.0" MONDO:0019509 "SCTID:718217000" MONDO:0019509 "NCIT:C122919" MONDO:0019509 "Orphanet:889" +MONDO:0019509 "ICD10CM:M31.0" MONDO:0015612 "DOID:0050699" MONDO:0015612 "OMIM:308990" MONDO:0015612 "GARD:0013105" @@ -69126,46 +67415,44 @@ MONDO:0015612 "OMIM:300009" MONDO:0015612 "MedDRA:10069199" MONDO:0015612 "MESH:D057973" MONDO:0015612 "UMLS:C0878681" +MONDO:0015612 "ICD10CM:N25.8" MONDO:0015612 "OMIM:300555" MONDO:0015612 "NCIT:C123260" -MONDO:0015612 "ICD10:N25.8" -MONDO:0001913 "ICD10:N46.1" MONDO:0001913 "NCIT:C34860" MONDO:0001913 "MESH:D009845" MONDO:0001913 "ICD9:606.1" MONDO:0001913 "UMLS:C0028960" MONDO:0001913 "DOID:14228" -MONDO:0001913 "ICD10:N46.11" MONDO:0001913 "HP:0000798" MONDO:0018835 "SCTID:715140008" MONDO:0018835 "ICD9:573.8" +MONDO:0018835 "ICD10CM:K76.8" MONDO:0018835 "UMLS:CN205145" MONDO:0018835 "Orphanet:48372" MONDO:0018835 "GARD:0010929" -MONDO:0018835 "ICD10:K76.8" MONDO:0004233 "NCIT:C7959" MONDO:0004233 "UMLS:C0279614" MONDO:0004233 "DOID:7463" MONDO:0019919 "Orphanet:96188" -MONDO:0019919 "ICD10:Q99.8" +MONDO:0019919 "ICD10CM:Q99.8" MONDO:0018189 "OMIM:614831" MONDO:0018189 "UMLS:CN204693" MONDO:0018189 "OMIM:616204" -MONDO:0018189 "ICD10:G11.1" +MONDO:0018189 "ICD10CM:G11.1" MONDO:0018189 "Orphanet:363429" MONDO:0018365 "UMLS:CN205032" MONDO:0018365 "Orphanet:398940" MONDO:0011649 "Orphanet:98722" MONDO:0011649 "OMIM:606215" -MONDO:0009203 "ICD10:Q82.8" +MONDO:0009203 "ICD10CM:Q82.8" MONDO:0009203 "OMIM:227260" MONDO:0009203 "Orphanet:1807" MONDO:0009203 "SCTID:403771007" MONDO:0009203 "GARD:0000121" MONDO:0009203 "Orphanet:398166" -MONDO:0016706 "ICD10:C71.9" MONDO:0016706 "GARD:0010636" MONDO:0016706 "UMLS:C1322252" +MONDO:0016706 "ICD10CM:C71.9" MONDO:0016706 "ICDO:9444/1" MONDO:0016706 "DOID:3773" MONDO:0016706 "NCIT:C5592" @@ -69175,18 +67462,17 @@ MONDO:0016706 "ONCOTREE:CHGL" MONDO:0016706 "SCTID:715900001" MONDO:0020369 "MESH:D057129" MONDO:0020369 "UMLS:C0544008" -MONDO:0020369 "ICD10:H18.51" MONDO:0020369 "SCTID:416960004" MONDO:0020369 "ICD9:371.57" MONDO:0020369 "MedDRA:10057487" MONDO:0020369 "UMLS:C1096100" -MONDO:0020369 "ICD10:H21.2" MONDO:0020369 "Orphanet:98979" MONDO:0020369 "GARD:0006033" MONDO:0020369 "DOID:11554" +MONDO:0020369 "ICD10CM:H21.2" +MONDO:0020545 "ICD10CM:A48.3" MONDO:0020545 "Orphanet:99919" MONDO:0020545 "MedDRA:10044250" -MONDO:0020545 "ICD10:A48.3" MONDO:0020545 "SCTID:240450004" MONDO:0020545 "ICD9:040.89" MONDO:0002103 "ICD9:300.16" @@ -69195,10 +67481,8 @@ MONDO:0002103 "ICD9:300.19" MONDO:0002103 "MESH:D009110" MONDO:0002103 "DOID:1766" MONDO:0002103 "SCTID:50705009" -MONDO:0002103 "ICD10:F68.11" MONDO:0001547 "UMLS:C0155471" MONDO:0001547 "ICD9:384.82" -MONDO:0001547 "ICD10:H73.82" MONDO:0001547 "SCTID:72052003" MONDO:0001547 "DOID:12546" MONDO:0008006 "MedDRA:10027789" @@ -69209,9 +67493,9 @@ MONDO:0008006 "MedDRA:10030069" MONDO:0008006 "SCTID:89444000" MONDO:0008006 "OMIM:157900" MONDO:0008006 "GARD:0008549" -MONDO:0008006 "ICD10:Q87.0" MONDO:0008006 "Orphanet:570" MONDO:0008006 "DOID:13501" +MONDO:0008006 "ICD10CM:Q87.0" MONDO:0008006 "ICD9:759.89" MONDO:0008006 "UMLS:C0853240" MONDO:0008006 "UMLS:C0221060" @@ -69222,9 +67506,9 @@ MONDO:0005674 "EFO:0007176" MONDO:0005674 "SCTID:697970009" MONDO:0005674 "GARD:0013046" MONDO:0005674 "HP:0011847" +MONDO:0005674 "ICD10CM:D48.0" MONDO:0005674 "Orphanet:363976" MONDO:0005674 "DOID:4305" -MONDO:0005674 "ICD10:D48.0" MONDO:0005674 "MESH:D018212" MONDO:0005674 "UMLS:C0206638" MONDO:0005674 "ONCOTREE:GCTB" @@ -69236,7 +67520,7 @@ HP:0200042 "MSH:D012883" HP:0200042 "UMLS:C0037299" HP:0200042 "MEDDRA:10040943" MONDO:0018680 "SCTID:128862000" -MONDO:0018680 "ICD10:L98.6" +MONDO:0018680 "ICD10CM:L98.6" MONDO:0018680 "NCIT:C62776" MONDO:0018680 "UMLS:C0311220" MONDO:0018680 "Orphanet:451607" @@ -69263,7 +67547,6 @@ MONDO:0002988 "UMLS:C0877611" MONDO:0003934 "NCIT:C5141" MONDO:0003934 "UMLS:C1332316" MONDO:0003934 "DOID:6581" -MONDO:0009424 "ICD10:E26.8" MONDO:0009424 "GARD:0009658" MONDO:0009424 "OMIM:241200" MONDO:0009424 "Orphanet:93604" @@ -69280,7 +67563,7 @@ MONDO:0013087 "OMIM:613021" MONDO:0014033 "Orphanet:329466" MONDO:0014033 "DOID:0090055" MONDO:0014033 "OMIM:615073" -MONDO:0014033 "ICD10:G24.1" +MONDO:0014033 "ICD10CM:G24.1" MONDO:0014033 "UMLS:C3554447" NCBITaxon:6681 "GC_ID:1" MONDO:0002716 "NCIT:C9234" @@ -69289,8 +67572,8 @@ MONDO:0002716 "DOID:3637" MONDO:0012158 "OMIM:608932" MONDO:0012158 "MESH:C563827" MONDO:0012158 "UMLS:C1837090" -NCBITaxon:11632 "GC_ID:1" MONDO:0008686 "Orphanet:170" +MONDO:0008686 "ICD10CM:Q84.1" MONDO:0008686 "DOID:0111572" MONDO:0008686 "MESH:C536745" MONDO:0008686 "OMIM:604379" @@ -69300,25 +67583,25 @@ MONDO:0008686 "UMLS:CN200245" MONDO:0008686 "SCTID:52564001" MONDO:0008686 "OMIM:615896" MONDO:0008686 "HP:0002224" -MONDO:0008686 "ICD10:Q84.1" MONDO:0008686 "GARD:0005597" MONDO:0008686 "OMIM:616760" MONDO:0001894 "DOID:14152" MONDO:0001894 "UMLS:C1336049" MONDO:0001894 "NCIT:C5152" -MONDO:0019627 "ICD10:Q10.6" MONDO:0019627 "UMLS:C4273963" MONDO:0019627 "Orphanet:91416" MONDO:0019627 "SCTID:717262004" MONDO:0019627 "OMIM:601549" MONDO:0019627 "OMIM:103420" +MONDO:0019627 "ICD10CM:Q10.6" +NCBITaxon:11632 "GC_ID:1" MONDO:0018751 "Orphanet:466084" MONDO:0018751 "UMLS:CN242186" MONDO:0009632 "UMLS:C1968637" MONDO:0009632 "OMIM:251700" MONDO:0009632 "MESH:C566884" MONDO:0007489 "ICD9:756.59" -MONDO:0007489 "ICD10:Q74.8" +MONDO:0007489 "ICD10CM:Q74.8" MONDO:0007489 "GARD:0002019" MONDO:0007489 "MESH:C537997" MONDO:0007489 "Orphanet:1822" @@ -69334,7 +67617,6 @@ MONDO:0013100 "Orphanet:334" MONDO:0013100 "MESH:C567802" MONDO:0013100 "UMLS:C2751607" MONDO:0013100 "OMIM:613055" -MONDO:0004923 "ICD10:H04.4" MONDO:0004923 "SCTID:267653001" MONDO:0004923 "UMLS:C0155239" MONDO:0004923 "ICD9:375.4" @@ -69345,7 +67627,6 @@ MONDO:0021072 "NCIT:C4216" MONDO:0021072 "SCTID:399343007" MONDO:0021072 "ICDO:8681/1" MONDO:0013274 "OMIM:613464" -MONDO:0013274 "ICD10:H35.5" MONDO:0013274 "UMLS:C3150715" MONDO:0013274 "DOID:0110398" NCBITaxon:356 "PMID:1854635" @@ -69358,7 +67639,6 @@ MONDO:0011962 "UMLS:C0476089" MONDO:0011962 "DOID:1380" MONDO:0011962 "KEGG:05213" MONDO:0011962 "SCTID:123844007" -MONDO:0011962 "ICD10:C54.1" MONDO:0011962 "NCIT:C3012" MONDO:0011962 "NCIT:C27815" MONDO:0020265 "UMLS:CN207076" @@ -69372,31 +67652,30 @@ MONDO:0019783 "EFO:1001060" MONDO:0019783 "MedDRA:10062891" MONDO:0009290 "MedDRA:10053185" MONDO:0009290 "GARD:0005714" -MONDO:0009290 "ICD10:E74.02" -MONDO:0009290 "ICD10:E74.0" MONDO:0009290 "Orphanet:365" MONDO:0009290 "UMLS:C1968741" MONDO:0009290 "NCIT:C84734" MONDO:0009290 "DOID:2752" MONDO:0009290 "SCTID:274864009" +MONDO:0009290 "ICD10CM:E74.0" MONDO:0009290 "UMLS:C0017921" MONDO:0009290 "GARD:0002503" MONDO:0009290 "OMIM:232300" MONDO:0010029 "MESH:D012857" -MONDO:0010029 "NCIT:C87121" -MONDO:0010029 "ICD9:759.89" -MONDO:0010029 "SCTID:24614000" MONDO:0010029 "Orphanet:101063" -MONDO:0010029 "ICD10:Q89.3" -MONDO:0010029 "GARD:0004883" -MONDO:0010029 "Orphanet:450" +MONDO:0010029 "ICD10CM:Q89.3" +MONDO:0010029 "DOID:758" MONDO:0010029 "ICD9:759.3" +MONDO:0010029 "ICD9:759.89" +MONDO:0010029 "Orphanet:450" +MONDO:0010029 "SCTID:24614000" MONDO:0010029 "HP:0001696" +MONDO:0010029 "GARD:0004883" +MONDO:0010029 "NCIT:C87121" MONDO:0010029 "OMIM:270100" -MONDO:0010029 "DOID:758" MONDO:0013599 "UMLS:C3279990" MONDO:0013599 "Orphanet:391487" -MONDO:0013599 "ICD10:K63.9" +MONDO:0013599 "ICD10CM:K63.9" MONDO:0013599 "OMIM:614162" MONDO:0013599 "GARD:0012314" MONDO:0008873 "MESH:C537320" @@ -69410,8 +67689,8 @@ MONDO:0002190 "UMLS:C1520099" MONDO:0002190 "NCIT:C40311" MONDO:0002190 "DOID:2064" MONDO:0014502 "OMIM:616126" +MONDO:0014502 "ICD10CM:D84.8" MONDO:0014502 "UMLS:C4015293" -MONDO:0014502 "ICD10:D84.8" MONDO:0014502 "Orphanet:319563" MONDO:0008093 "OMIM:162900" MONDO:0008093 "Orphanet:79414" @@ -69426,11 +67705,11 @@ MONDO:0024653 "UMLS:C0037305" MONDO:0024653 "SCTID:126538005" MONDO:0024653 "ICD9:239.2" MONDO:0012544 "MESH:C565193" +MONDO:0012544 "ICD10CM:Q73.8" MONDO:0012544 "UMLS:C1853137" MONDO:0012544 "OMIM:610713" MONDO:0012544 "Orphanet:93409" MONDO:0012544 "DOID:0050689" -MONDO:0012544 "ICD10:Q73.8" MONDO:0002308 "GARD:0008445" MONDO:0002308 "UMLS:C0009769" MONDO:0002308 "DOID:2457" @@ -69444,15 +67723,14 @@ CL:1000327 "FMA:263069" CL:0002305 "FMA:70981" CL:0002305 "KUPO:0001055" CL:0002305 "FMA:62125" +NCBITaxon:7898 "GC_ID:1" NCBITaxon:1648 "PMID:1503975" NCBITaxon:1648 "GC_ID:11" NCBITaxon:1648 "PMID:8427802" MONDO:0001482 "DOID:12286" MONDO:0001482 "NCIT:C9277" MONDO:0001482 "UMLS:C1336711" -NCBITaxon:7898 "GC_ID:1" MONDO:0013985 "UMLS:C3554163" -MONDO:0013985 "ICD10:H90.3" MONDO:0013985 "DOID:0110474" MONDO:0013985 "OMIM:614945" MONDO:0012731 "OMIM:611804" @@ -69473,7 +67751,6 @@ MONDO:0005089 "EFO:0000691" MONDO:0005089 "MESH:D012509" MONDO:0005089 "ICD9:171.3" MONDO:0005089 "ICD9:171.9" -MONDO:0005089 "ICD10:C49" MONDO:0005089 "ICD9:171" MONDO:0005089 "ICD9:171.8" MONDO:0005089 "GARD:0012018" @@ -69481,30 +67758,30 @@ MONDO:0005089 "ICD9:171.7" MONDO:0005089 "ICD9:171.2" MONDO:0005089 "NCIT:C9118" MONDO:0015402 "Orphanet:141174" -MONDO:0015402 "ICD10:Q27.3" +MONDO:0015402 "ICD10CM:Q27.3" MONDO:0015402 "SCTID:703334000" -MONDO:0001549 "ICD10:D59.3" -MONDO:0001549 "MESH:D006463" +MONDO:0001549 "Orphanet:544458" MONDO:0001549 "ICD9:283.11" -MONDO:0001549 "GARD:0006588" +MONDO:0001549 "MESH:D006463" MONDO:0001549 "Orphanet:2134" -MONDO:0001549 "OMIM:235400" -MONDO:0001549 "OMIM:612924" +MONDO:0001549 "OMIM:612925" +MONDO:0001549 "OMIMPS:235400" MONDO:0001549 "NCIT:C75545" -MONDO:0001549 "Orphanet:544458" +MONDO:0001549 "OMIM:612922" MONDO:0001549 "UMLS:C0019061" +MONDO:0001549 "ICD10CM:D59.3" +MONDO:0001549 "OMIM:612924" +MONDO:0001549 "SCTID:111407006" +MONDO:0001549 "OMIM:235400" MONDO:0001549 "DOID:12554" -MONDO:0001549 "OMIMPS:235400" -MONDO:0001549 "OMIM:612923" MONDO:0001549 "OMIM:612926" -MONDO:0001549 "SCTID:111407006" -MONDO:0001549 "OMIM:612922" -MONDO:0001549 "OMIM:612925" +MONDO:0001549 "GARD:0006588" +MONDO:0001549 "OMIM:612923" MONDO:0020547 "SCTID:402356004" -MONDO:0020547 "ICD10:D89.811" -MONDO:0020547 "ICD10:T86.0" MONDO:0020547 "MESH:D006086" +MONDO:0020547 "ICD10CM:D89.811" MONDO:0020547 "NCIT:C4981" +MONDO:0020547 "ICD10CM:T86.0" MONDO:0020547 "ICD9:279.52" MONDO:0020547 "GARD:0010964" MONDO:0020547 "Orphanet:99921" @@ -69518,18 +67795,18 @@ MONDO:0003749 "ICD9:530" MONDO:0003749 "NCIT:C3027" MONDO:0003749 "ICD9:530.20" MONDO:0003749 "MESH:D004935" -MONDO:0003749 "ICD10:K22.9" MONDO:0003749 "ICD9:530.2" +MONDO:0003749 "ICD10CM:K20-K31" MONDO:0003749 "ICD9:530.9" +MONDO:0008465 "ICD10CM:Q87.0" MONDO:0008465 "Orphanet:2439" -MONDO:0008465 "ICD10:Q87.0" MONDO:0008465 "SCTID:724069009" MONDO:0008465 "UMLS:C1866741" MONDO:0008465 "OMIM:183700" MONDO:0008465 "GARD:0004260" +MONDO:0001326 "ICD10CM:K04.1" MONDO:0001326 "UMLS:C0011407" MONDO:0001326 "ICD9:522.1" -MONDO:0001326 "ICD10:K04.1" MONDO:0001326 "MESH:D003790" MONDO:0001326 "SCTID:42711005" MONDO:0001326 "DOID:11623" @@ -69537,9 +67814,7 @@ MONDO:0002884 "DOID:4123" MONDO:0002884 "ICD9:703.9" MONDO:0002884 "SCTID:17790008" MONDO:0002884 "ICD9:703.8" -MONDO:0002884 "ICD10:L60.9" MONDO:0002884 "MESH:D009260" -MONDO:0002884 "ICD10:L60" MONDO:0002884 "ICD9:703" MONDO:0002884 "UMLS:C0027339" MONDO:0018530 "Orphanet:424933" @@ -69553,26 +67828,26 @@ MONDO:0022818 "GARD:0001472" MONDO:0100157 "OMIM:618882" MONDO:0004702 "ICD9:622.2" MONDO:0004702 "NCIT:C3976" +MONDO:0004702 "ICD10CM:N88.0" MONDO:0004702 "UMLS:C0269194" MONDO:0004702 "SCTID:50923006" -MONDO:0004702 "ICD10:N88.0" MONDO:0004702 "DOID:9043" NCBITaxon:694017 "GC_ID:1" MONDO:0016186 "Orphanet:209038" MONDO:0015897 "Orphanet:181408" -MONDO:0019386 "ICD10:B06.0+" -MONDO:0019386 "ICD10:G05.1*" +MONDO:0019386 "ICD10EXP:B06.0+" MONDO:0019386 "UMLS:C1305924" +MONDO:0019386 "ICD10EXP:G05.1*" MONDO:0019386 "Orphanet:83616" MONDO:0019386 "SCTID:10082001" -MONDO:0019386 "https://en.wikipedia.org/wiki/Progressive_rubella_panencephalitis" -MONDO:0009867 "ICD10:E74.0+" +MONDO:0019386 "Wikipedia:Progressive_rubella_panencephalitis" MONDO:0009867 "Orphanet:439854" MONDO:0009867 "MESH:C564888" -MONDO:0009867 "ICD10:G73.6*" +MONDO:0009867 "ICD10EXP:E74.0+" MONDO:0009867 "DOID:0090101" MONDO:0009867 "OMIM:261740" MONDO:0009867 "UMLS:C1849813" +MONDO:0009867 "ICD10EXP:G73.6*" MONDO:0009867 "GARD:0010728" MONDO:0003936 "NCIT:C9135" MONDO:0003936 "UMLS:C1328544" @@ -69586,11 +67861,10 @@ MONDO:0019562 "MedDRA:10039712" MONDO:0019562 "Orphanet:90289" MONDO:0019562 "MESH:D012594" MONDO:0019562 "DOID:8472" -MONDO:0019562 "ICD10:L94.0" MONDO:0019215 "Orphanet:79163" MONDO:0016572 "UMLS:C4303949" -MONDO:0016572 "ICD10:Q04.8" MONDO:0016572 "SCTID:720632004" +MONDO:0016572 "ICD10CM:Q04.8" MONDO:0016572 "Orphanet:2431" MONDO:0000314 "DOID:0050338" MONDO:0014893 "UMLS:C4310739" @@ -69609,21 +67883,21 @@ MONDO:0021742 "MESH:D011645" MONDO:0100344 "OMIM:601678" MONDO:0100344 "OMIM:241200" MONDO:0100344 "GARD:0000830" -MONDO:0100344 "ICD10:E26.8" MONDO:0100344 "SCTID:700107006" MONDO:0100344 "MESH:C537652" MONDO:0100344 "DOID:0110142" MONDO:0100344 "Orphanet:112" +MONDO:0100344 "ICD10CM:E26.8" MONDO:0100344 "Orphanet:93604" MONDO:0100344 "OMIM:300971" MONDO:0001978 "UMLS:C0854921" MONDO:0001978 "DOID:14491" MONDO:0001978 "NCIT:C9356" -MONDO:0012323 "ICD10:Q81.0" MONDO:0012323 "MESH:C535493" MONDO:0012323 "Orphanet:158687" MONDO:0012323 "OMIM:609638" MONDO:0012323 "UMLS:C1864826" +MONDO:0012323 "ICD10CM:Q81.0" MONDO:0012323 "GARD:0009910" MONDO:0013881 "Orphanet:306504" MONDO:0013881 "OMIM:614748" @@ -69633,7 +67907,7 @@ MONDO:0005497 "EFO:0005541" MONDO:0005497 "SCTID:371521007" MONDO:0016205 "GARD:0012868" MONDO:0016205 "UMLS:C3665812" -MONDO:0016205 "ICD10:H35.0" +MONDO:0016205 "ICD10CM:H35.0" MONDO:0016205 "Orphanet:209943" MONDO:0020044 "UMLS:CN229258" MONDO:0020044 "Orphanet:98096" @@ -69656,7 +67930,7 @@ MONDO:0006899 "UMLS:C0031055" MONDO:0020430 "SCTID:253353007" MONDO:0020430 "ICD9:746.89" MONDO:0020430 "GARD:0012484" -MONDO:0020430 "ICD10:Q24.2" +MONDO:0020430 "ICD10CM:Q24.2" MONDO:0020430 "Orphanet:99099" MONDO:0013764 "Orphanet:2318" MONDO:0013764 "DOID:0110985" @@ -69679,22 +67953,20 @@ HP:0000083 "SNOMEDCT_US:236423003" HP:0000083 "MSH:D051437" MONDO:0006079 "EFO:1000078" MONDO:0006079 "UMLS:C1314678" +MONDO:0006079 "ICD10CM:C41.1" MONDO:0006079 "Orphanet:314422" MONDO:0006079 "GARD:0011855" MONDO:0006079 "NCIT:C7492" -MONDO:0006079 "ICD10:C41.1" MONDO:0001250 "SCTID:85149007" MONDO:0001250 "ICD9:371.45" MONDO:0001250 "MESH:C536156" MONDO:0001250 "DOID:11267" -MONDO:0001250 "ICD10:H18.44" MONDO:0001250 "GARD:0006825" MONDO:0001250 "UMLS:C0152455" MONDO:0017646 "Orphanet:306719" MONDO:0017646 "UMLS:CN203538" MONDO:0007153 "OMIM:108000" MONDO:0004767 "SCTID:27001009" -MONDO:0004767 "ICD10:N49.0" MONDO:0004767 "NCIT:C12787" MONDO:0004767 "ICD9:608.0" MONDO:0004767 "DOID:9365" @@ -69712,7 +67984,7 @@ MONDO:0020736 "UMLS:C0432347" MONDO:0020736 "OMIM:191480" MONDO:0020736 "Orphanet:1410" MONDO:0021462 "NCIT:C4774" -MONDO:0021462 "ICD10:D12.8" +MONDO:0021462 "ICD10CM:D12.8" MONDO:0021462 "UMLS:C0496867" MONDO:0021462 "SCTID:92318000" NCBITaxon:6318 "GC_ID:1" @@ -69730,9 +68002,9 @@ MONDO:0006946 "GARD:0007551" MONDO:0006946 "ICD9:588.0" MONDO:0006946 "UMLS:C0035086" MONDO:0006946 "MedDRA:10038489" +MONDO:0006946 "ICD10CM:N25.0" MONDO:0006946 "EFO:1001152" MONDO:0006946 "MESH:D012080" -MONDO:0006946 "ICD10:N25.0" MONDO:0006946 "SCTID:16726004" MONDO:0033199 "Orphanet:90636" MONDO:0033199 "OMIM:617639" @@ -69740,12 +68012,12 @@ MONDO:0033199 "DOID:0080262" MONDO:0008185 "ICD9:577.8" MONDO:0008185 "MESH:C537262" MONDO:0008185 "Orphanet:676" +MONDO:0008185 "ICD10CM:K86.1" MONDO:0008185 "SCTID:68072000" -MONDO:0008185 "ICD10:K86.1" MONDO:0008185 "GARD:0006632" MONDO:0008185 "NCIT:C95436" MONDO:0008185 "OMIM:167800" -MONDO:0018250 "ICD10:Q82.8" +MONDO:0018250 "ICD10CM:Q82.8" MONDO:0018250 "UMLS:CN204824" MONDO:0018250 "Orphanet:369999" MONDO:0018250 "OMIM:148700" @@ -69756,15 +68028,13 @@ MONDO:0015864 "NCIT:C9010" MONDO:0015864 "NCIT:C4290" MONDO:0015864 "UMLS:C0334524" MONDO:0005371 "ICD9:296.99" -MONDO:0005371 "MESH:D019964" MONDO:0005371 "DOID:3324" -MONDO:0005371 "ICD10:F30-F39" +MONDO:0005371 "MESH:D019964" MONDO:0005371 "NCIT:C92200" -MONDO:0005371 "ICD10:F30.F39" MONDO:0005371 "EFO:0004247" MONDO:0005371 "UMLS:CN236678" MONDO:0005371 "SCTID:46206005" -MONDO:0005371 "ICD10:F39" +MONDO:0005371 "ICD10CM:F30-F39" NCBITaxon:1817 "PMID:7547284" NCBITaxon:1817 "PMID:7537058" NCBITaxon:1817 "GC_ID:11" @@ -69775,14 +68045,14 @@ MONDO:0007550 "ICD9:771.2" MONDO:0007550 "SCTID:254179000" MONDO:0007550 "GARD:0002141" MONDO:0007550 "DOID:0060735" -MONDO:0007550 "ICD10:Q81.0" +MONDO:0007550 "ICD10CM:Q81.0" MONDO:0007550 "Orphanet:79396" MONDO:0007550 "OMIM:131760" MONDO:0019330 "SCTID:42829009" -MONDO:0019330 "ICD10:L67.8" MONDO:0019330 "MESH:C537188" MONDO:0019330 "Orphanet:79492" MONDO:0019330 "ICD9:704.8" +MONDO:0019330 "ICD10CM:L67.8" MONDO:0024497 "NCIT:C14158" MONDO:0023243 "UMLS:C4303810" MONDO:0023243 "SCTID:720814001" @@ -69793,10 +68063,10 @@ MONDO:0011838 "OMIM:607475" MONDO:0011838 "UMLS:C1843816" MONDO:0011838 "DOID:0050683" MONDO:0011838 "MESH:C564392" +MONDO:0011838 "ICD10CM:H35.5" MONDO:0011838 "Orphanet:85128" -MONDO:0011838 "ICD10:H35.5" CL:0000547 "FMA:83518" -MONDO:0018133 "ICD10:E70.3" +MONDO:0018133 "ICD10CM:E70.3" MONDO:0018133 "UMLS:C4304022" MONDO:0018133 "SCTID:720520009" MONDO:0018133 "UMLS:CN204519" @@ -69814,17 +68084,17 @@ MONDO:0054770 "OMIM:617927" MONDO:0000588 "DOID:0060031" MONDO:0009717 "UMLS:C0036391" MONDO:0009717 "GARD:0000250" -MONDO:0009717 "ICD10:Q78.8" MONDO:0009717 "SCTID:29145002" MONDO:0009717 "NCIT:C35008" +MONDO:0009717 "ICD10CM:G71.1" MONDO:0009717 "Orphanet:800" MONDO:0009717 "OMIM:255800" -MONDO:0009717 "ICD10:G71.1" +MONDO:0009717 "ICD10CM:Q78.8" MONDO:0009717 "ICD9:759.89" MONDO:0013313 "OMIM:613576" -MONDO:0013313 "Orphanet:247827" MONDO:0013313 "UMLS:C3150809" -MONDO:0013313 "ICD10:Q82.8" +MONDO:0013313 "Orphanet:247827" +MONDO:0013313 "ICD10CM:Q82.8" MONDO:0021285 "SCTID:92784007" MONDO:0021285 "ICD9:233.9" MONDO:0021285 "NCIT:C4531" @@ -69866,7 +68136,6 @@ MONDO:0004546 "NCIT:C5824" MONDO:0004546 "DOID:8389" MONDO:0019879 "Orphanet:96096" MONDO:0019879 "SCTID:763273008" -MONDO:0019879 "ICD10:Q92.3" MONDO:0036491 "NCIT:C114451" MONDO:0036491 "UMLS:C3828369" MONDO:0013660 "OMIM:614262" @@ -69890,11 +68159,10 @@ MONDO:0011414 "OMIM:612968" MONDO:0011414 "DOID:0060673" MONDO:0011414 "MedDRA:10059202" MONDO:0011414 "ICD9:743.44" -MONDO:0011414 "ICD10:Q13.4" +MONDO:0011414 "ICD10CM:Q13.4" MONDO:0011414 "Orphanet:708" MONDO:0011414 "OMIM:604229" MONDO:0001920 "UMLS:C0271454" -MONDO:0001920 "ICD10:H66.3" MONDO:0001920 "DOID:14247" MONDO:0001920 "NCIT:C128386" MONDO:0001920 "ICD9:382.3" @@ -69903,15 +68171,14 @@ MONDO:0017083 "Orphanet:268832" MONDO:0015467 "Orphanet:1527" MONDO:0015467 "SCTID:720818003" MONDO:0015467 "OMIM:185900" -MONDO:0015467 "ICD10:Q87.0" MONDO:0015467 "GARD:0001601" +MONDO:0015467 "ICD10CM:Q87.0" MONDO:0009047 "NCIT:C12326" MONDO:0009047 "EFO:0004562" MONDO:0009047 "OMIM:219050" MONDO:0009047 "MESH:D003456" MONDO:0009047 "ICD9:752.5" MONDO:0009047 "ICD9:752.51" -MONDO:0009047 "ICD10:Q53.9" MONDO:0009047 "DOID:11383" MONDO:0009047 "HP:0000028" MONDO:0009047 "SCTID:204878001" @@ -69927,35 +68194,31 @@ MONDO:0005150 "NIFSTD:birnlex_12812" MONDO:0005150 "DOID:10871" MONDO:0005150 "ICD9:362.50" MONDO:0005150 "EFO:0001365" -MONDO:0005150 "ICD10:H35.30" -MONDO:0018556 "ICD10:G73.1" MONDO:0018556 "MedDRA:10067685" MONDO:0018556 "MESH:D015624" MONDO:0018556 "UMLS:C0022972" MONDO:0018556 "GARD:0006851" MONDO:0018556 "NCIT:C3155" MONDO:0018556 "SCTID:56989000" -MONDO:0018556 "ICD10:G70.80" MONDO:0018556 "Orphanet:43393" MONDO:0018556 "ICD9:358.3" MONDO:0018556 "DOID:0050214" -MONDO:0010144 "ICD10:Q72.5" MONDO:0010144 "Orphanet:93322" MONDO:0010144 "MESH:C535563" MONDO:0010144 "SCTID:79177001" MONDO:0010144 "GARD:0008707" MONDO:0010144 "OMIM:275220" MONDO:0000137 "OMIMPS:604004" -MONDO:0012987 "Orphanet:33110" -MONDO:0012987 "OMIM:612692" -MONDO:0012987 "Orphanet:229717" -MONDO:0012987 "UMLS:C3150207" +MONDO:0002337 "ICD10CM:D18.03" MONDO:0002337 "UMLS:C0154052" MONDO:0002337 "SCTID:189197001" MONDO:0002337 "ICD9:228.04" MONDO:0002337 "DOID:254" -MONDO:0002337 "ICD10:D18.03" MONDO:0002337 "NCIT:C3635" +MONDO:0012987 "Orphanet:33110" +MONDO:0012987 "OMIM:612692" +MONDO:0012987 "Orphanet:229717" +MONDO:0012987 "UMLS:C3150207" NCBITaxon:451507 "PMID:17051209" NCBITaxon:451507 "PMID:27738200" NCBITaxon:451507 "PMID:17010206" @@ -69966,7 +68229,6 @@ MONDO:0010402 "UMLS:C2678051" MONDO:0010402 "OMIM:300699" MONDO:0010402 "MESH:C567479" MONDO:0010402 "DOID:0060823" -MONDO:0010402 "ICD10:F72" MONDO:0010402 "Orphanet:364028" NCBITaxon:1868215 "GC_ID:1" MONDO:0016869 "Orphanet:261781" @@ -69975,12 +68237,12 @@ MONDO:0033481 "DOID:0080288" MONDO:0033481 "UMLS:CN623018" MONDO:0033481 "OMIM:617770" MONDO:0016071 "NCIT:C98297" -MONDO:0016071 "ICD10:M72.8" MONDO:0016071 "ICD9:733.29" MONDO:0016071 "OMIM:228600" MONDO:0016071 "UMLS:C2745948" MONDO:0016071 "SCTID:238861002" MONDO:0016071 "Orphanet:2028" +MONDO:0016071 "ICD10CM:M72.8" MONDO:0019588 "GARD:0001710" MONDO:0019588 "OMIM:610265" MONDO:0019588 "OMIM:610419" @@ -70012,9 +68274,9 @@ MONDO:0019588 "OMIM:610220" MONDO:0019588 "UMLS:CN206424" MONDO:0019588 "OMIM:612645" MONDO:0019588 "OMIM:613079" -MONDO:0019588 "OMIM:608265" MONDO:0019588 "OMIM:600792" MONDO:0019588 "OMIM:604060" +MONDO:0019588 "OMIM:608265" MONDO:0019588 "OMIM:600974" MONDO:0019588 "OMIM:608264" MONDO:0019588 "OMIM:614861" @@ -70026,9 +68288,8 @@ MONDO:0019588 "OMIM:609439" MONDO:0019588 "OMIM:603629" MONDO:0019588 "OMIM:608653" MONDO:0019588 "OMIM:602092" -MONDO:0019588 "OMIM:611451" MONDO:0019588 "OMIM:608565" -MONDO:0019588 "ICD10:H90.3" +MONDO:0019588 "OMIM:611451" MONDO:0019588 "OMIM:605428" MONDO:0019588 "OMIM:614035" MONDO:0019588 "OMIM:603010" @@ -70051,6 +68312,7 @@ MONDO:0019588 "OMIM:609823" MONDO:0019588 "OMIM:613916" MONDO:0019588 "MESH:C564609" MONDO:0019588 "OMIM:601386" +MONDO:0019588 "ICD10CM:H90.3" MONDO:0019588 "OMIM:609646" MONDO:0019588 "OMIM:609946" MONDO:0019588 "OMIM:603678" @@ -70079,10 +68341,10 @@ MONDO:0008678 "SCTID:63247009" MONDO:0008678 "MESH:D018980" MONDO:0008678 "Orphanet:904" MONDO:0008678 "ICD9:759.89" +MONDO:0008678 "ICD10CM:Q87.8" MONDO:0008678 "UMLS:C0175702" MONDO:0008678 "NCIT:C85232" MONDO:0008678 "DOID:1928" -MONDO:0008678 "ICD10:Q87.8" MONDO:0006591 "NCIT:C112112" MONDO:0006591 "MESH:D015434" MONDO:0006591 "EFO:1000746" @@ -70093,10 +68355,9 @@ MONDO:0006591 "SCTID:22125009" MONDO:0006591 "UMLS:C0030326" MONDO:0006591 "ICD9:729.3" MONDO:0006591 "NCIT:C33645" -MONDO:0006591 "ICD10:M79.3" MONDO:0006591 "ICD9:729.39" MONDO:0018100 "GARD:0002906" -MONDO:0018100 "ICD10:E83.4" +MONDO:0018100 "ICD10CM:E83.4" MONDO:0018100 "NCIT:C123263" MONDO:0018100 "DOID:0060879" MONDO:0018100 "OMIMPS:602014" @@ -70104,19 +68365,18 @@ MONDO:0018100 "Orphanet:34526" MONDO:0018100 "SCTID:80710001" MONDO:0017811 "UMLS:CN203780" MONDO:0017811 "SCTID:768555009" -MONDO:0017811 "ICD10:Q93.5" MONDO:0017811 "Orphanet:314655" +MONDO:0017811 "ICD10CM:Q93.5" MONDO:0018743 "UMLS:CN242076" MONDO:0018743 "Orphanet:464764" MONDO:0011585 "Orphanet:139552" MONDO:0011585 "SCTID:763533003" +MONDO:0011585 "ICD10CM:G12.2" MONDO:0011585 "DOID:0111065" MONDO:0011585 "GARD:0010133" MONDO:0011585 "MESH:C535715" MONDO:0011585 "OMIM:605726" -MONDO:0011585 "ICD10:G12.2" MONDO:0001578 "ICD9:620.4" -MONDO:0001578 "ICD10:N83.4" MONDO:0001578 "DOID:12735" MONDO:0013283 "OMIM:613493" MONDO:0013283 "Orphanet:1572" @@ -70139,7 +68399,6 @@ MONDO:0017341 "UMLS:CN203003" MONDO:0002182 "ICD9:307.9" MONDO:0002182 "MESH:D003147" MONDO:0002182 "DOID:2033" -MONDO:0002182 "ICD10:F80.9" MONDO:0002182 "SCTID:278919001" MONDO:0002182 "NCIT:C2958" MONDO:0000870 "NCIT:C3168" @@ -70172,9 +68431,7 @@ MONDO:0010929 "Orphanet:2343" MONDO:0010929 "OMIM:600775" MONDO:0005536 "EFO:0005626" MONDO:0006610 "UMLS:C0151514" -MONDO:0006610 "ICD10:L90.9" MONDO:0006610 "DOID:2733" -MONDO:0006610 "ICD10:L90" MONDO:0006610 "ICD9:701.8" MONDO:0006610 "EFO:1000766" MONDO:0006610 "SCTID:400190005" @@ -70185,9 +68442,9 @@ MONDO:0009791 "GARD:0009476" MONDO:0014346 "UMLS:C4014321" MONDO:0014346 "Orphanet:171723" MONDO:0014346 "OMIM:615785" -MONDO:0020306 "ICD10:Q87.2" MONDO:0020306 "MESH:C535564" MONDO:0020306 "GARD:0008309" +MONDO:0020306 "ICD10CM:Q87.2" MONDO:0020306 "OMIM:188740" MONDO:0020306 "UMLS:C1861099" MONDO:0020306 "DOID:0111564" @@ -70203,7 +68460,6 @@ MONDO:0002910 "UMLS:C0747533" MONDO:0001452 "ICD9:362.65" MONDO:0001452 "UMLS:C0154858" MONDO:0001452 "SCTID:193396007" -MONDO:0001452 "ICD10:H35.45" MONDO:0001452 "DOID:12162" MONDO:0001452 "UMLS:C2053820" MONDO:0003421 "DOID:5385" @@ -70212,14 +68468,13 @@ MONDO:0003421 "UMLS:C0334323" MONDO:0003421 "ICDO:8323/0" MONDO:0015574 "MedDRA:10057929" MONDO:0015574 "Orphanet:163531" -MONDO:0015574 "ICD10:L93.2" -MONDO:0015574 "ICD10:L93.0" +MONDO:0015574 "ICD10CM:L93.2" +MONDO:0015574 "ICD10CM:L93.0" MONDO:0015574 "UMLS:CN226705" MONDO:0006938 "UMLS:C0034183" MONDO:0006938 "DOID:2744" MONDO:0006938 "MedDRA:10037584" MONDO:0006938 "SCTID:27174002" -MONDO:0006938 "ICD10:N12" MONDO:0006938 "EFO:1001140" MONDO:0006938 "MESH:D011702" MONDO:0006938 "NCIT:C34964" @@ -70227,7 +68482,7 @@ MONDO:0006140 "UMLS:C1516423" MONDO:0006140 "EFO:1000169" MONDO:0006140 "NCIT:C40206" MONDO:0006140 "DOID:6627" -MONDO:0011134 "ICD10:Q87.0" +MONDO:0011134 "ICD10CM:Q87.0" MONDO:0011134 "SCTID:720819006" MONDO:0011134 "GARD:0005584" MONDO:0011134 "UMLS:C0795915" @@ -70235,11 +68490,11 @@ MONDO:0011134 "Orphanet:1553" MONDO:0011134 "OMIM:601707" MONDO:0011134 "MESH:C536735" MONDO:0013977 "SCTID:763110007" -MONDO:0013977 "ICD10:G71.3" MONDO:0013977 "UMLS:C3554129" MONDO:0013977 "DOID:0111467" MONDO:0013977 "OMIM:614932" MONDO:0013977 "Orphanet:319514" +MONDO:0013977 "ICD10CM:G71.3" MONDO:0003631 "NCIT:C40201" MONDO:0003631 "DOID:5752" MONDO:0003631 "UMLS:C1516431" @@ -70250,9 +68505,9 @@ MONDO:0001053 "DOID:10520" MONDO:0032821 "OMIM:618578" MONDO:0015411 "NCIT:C124510" MONDO:0015411 "Orphanet:141229" -MONDO:0015411 "ICD10:Q18.8" MONDO:0015411 "SCTID:92821006" -MONDO:0019153 "ICD10:Q87.8" +MONDO:0015411 "ICD10CM:Q18.8" +MONDO:0019153 "ICD10CM:Q87.8" MONDO:0019153 "UMLS:C4303545" MONDO:0019153 "SCTID:717943008" MONDO:0019153 "Orphanet:75389" @@ -70269,11 +68524,11 @@ MONDO:0012575 "OMIM:610896" MONDO:0003906 "NCIT:C39989" MONDO:0003906 "UMLS:C1518748" MONDO:0003906 "DOID:6512" +MONDO:0019532 "ICD10CM:D59.1" MONDO:0019532 "UMLS:C0272118" MONDO:0019532 "MedDRA:10047822" MONDO:0019532 "NCIT:C162611" MONDO:0019532 "GARD:0007876" -MONDO:0019532 "ICD10:D59.1" MONDO:0019532 "SCTID:3978000" MONDO:0019532 "Orphanet:90033" MONDO:0006226 "UMLS:C1333782" @@ -70282,9 +68537,9 @@ MONDO:0006226 "EFO:1000274" MONDO:0004065 "NCIT:C6100" MONDO:0004065 "DOID:6996" MONDO:0004065 "UMLS:C1334208" +MONDO:0010404 "ICD10CM:G11.0" MONDO:0010404 "UMLS:C2678048" MONDO:0010404 "SCTID:766818009" -MONDO:0010404 "ICD10:G11.0" MONDO:0010404 "OMIM:300703" MONDO:0010404 "Orphanet:314978" MONDO:0010404 "MESH:C567478" @@ -70295,7 +68550,6 @@ MONDO:0005011 "NCIT:C2965" MONDO:0005011 "EFO:0000384" MONDO:0005011 "NCIT:C35211" MONDO:0005011 "UMLS:CN043071" -MONDO:0005011 "ICD10:K50.1" MONDO:0005011 "Orphanet:206" MONDO:0005011 "SCTID:34000006" MONDO:0005011 "OMIM:266600" @@ -70322,20 +68576,20 @@ MONDO:0007667 "UMLS:C0206725" MONDO:0007667 "Orphanet:251639" MONDO:0007667 "GARD:0010070" MONDO:0007667 "MESH:D018315" -MONDO:0007667 "ICD10:D43.2" MONDO:0007667 "EFO:1000553" MONDO:0007667 "ONCOTREE:SUBE" MONDO:0007667 "NCIT:C3795" MONDO:0007667 "DOID:4843" MONDO:0007667 "EFO:1001197" MONDO:0007667 "ICDO:9383/1" +MONDO:0007667 "ICD10CM:D43.2" MONDO:0009570 "Orphanet:2471" MONDO:0009570 "GARD:0003424" MONDO:0009570 "MESH:C538158" MONDO:0009570 "OMIM:248950" MONDO:0009570 "SCTID:715441004" MONDO:0009570 "UMLS:C0796038" -MONDO:0009570 "ICD10:Q87.8" +MONDO:0009570 "ICD10CM:Q87.8" MONDO:0008843 "SCTID:720519003" MONDO:0008843 "Orphanet:1192" MONDO:0008843 "MESH:C565928" @@ -70349,23 +68603,21 @@ MONDO:0013062 "Orphanet:101016" MONDO:0013062 "UMLS:C2751830" MONDO:0013062 "Orphanet:768" MONDO:0013062 "OMIM:612955" -MONDO:0013062 "ICD10:I45.8" MONDO:0013062 "MESH:C567842" HP:0012730 "SNOMEDCT_US:74788000" HP:0012730 "UMLS:C0158663" MONDO:0020053 "Orphanet:98141" -MONDO:0020053 "ICD10:Q93.1" -MONDO:0020053 "ICD10:Q93.0" +MONDO:0020053 "ICD10CM:Q93.0" +MONDO:0020053 "ICD10CM:Q93.1" MONDO:0001231 "SCTID:65974003" MONDO:0001231 "UMLS:C0155257" MONDO:0001231 "ICD9:376.02" MONDO:0001231 "DOID:11231" -MONDO:0001231 "ICD10:H05.03" MONDO:0015006 "Orphanet:508529" MONDO:0015006 "OMIM:617294" MONDO:0015006 "UMLS:C4310631" MONDO:0016564 "UMLS:CN226962" -MONDO:0016564 "ICD10:G23.1" +MONDO:0016564 "ICD10CM:G23.1" MONDO:0016564 "Orphanet:240112" MONDO:0012167 "UMLS:C1837812" MONDO:0012167 "MESH:C563903" @@ -70383,7 +68635,7 @@ MONDO:0054844 "OMIM:618065" MONDO:0019940 "UMLS:CN226272" MONDO:0019940 "Orphanet:966" MONDO:0019940 "SCTID:721837000" -MONDO:0019940 "ICD10:Q87.0" +MONDO:0019940 "ICD10CM:Q87.0" MONDO:0019940 "GARD:0000502" MONDO:0012050 "OMIM:608520" MONDO:0012050 "UMLS:C1837929" @@ -70393,8 +68645,8 @@ MONDO:0011280 "UMLS:C1864275" MONDO:0011280 "OMIM:603013" MONDO:0016401 "UMLS:CN226915" MONDO:0016401 "Orphanet:225696" +MONDO:0019918 "ICD10CM:Q99.8" MONDO:0019918 "Orphanet:96187" -MONDO:0019918 "ICD10:Q99.8" MONDO:0010175 "UMLS:C1848598" MONDO:0010175 "MESH:C536526" MONDO:0010175 "GARD:0008415" @@ -70414,15 +68666,13 @@ MONDO:0009906 "OMIM:264050" MONDO:0013569 "Orphanet:498497" MONDO:0013569 "Orphanet:93271" MONDO:0013569 "OMIM:614091" -MONDO:0013569 "ICD10:Q77.2" -MONDO:0013569 "UMLS:C3279792" MONDO:0013569 "DOID:0110090" +MONDO:0013569 "UMLS:C3279792" MONDO:0030051 "OMIM:618906" NCBITaxon:114292 "GC_ID:11" MONDO:0013979 "UMLS:C3543826" MONDO:0013979 "DOID:0110608" MONDO:0013979 "OMIM:614935" -MONDO:0013979 "ICD10:Q34.8" HP:0005390 "UMLS:C1832324" MONDO:0032823 "OMIM:618587" MONDO:0010396 "Orphanet:505652" @@ -70430,9 +68680,8 @@ MONDO:0010396 "OMIM:300672" MONDO:0010396 "UMLS:C1839333" MONDO:0010396 "MESH:C564064" MONDO:0010396 "DOID:0080467" -MONDO:0010396 "ICD10:G40.4" +MONDO:0020461 "ICD10CM:Q10.3" MONDO:0020461 "SCTID:253212001" -MONDO:0020461 "ICD10:Q10.3" MONDO:0020461 "ICD9:743.63" MONDO:0020461 "Orphanet:99169" MONDO:0001727 "DOID:13490" @@ -70444,7 +68693,6 @@ MONDO:0008381 "MESH:C566713" MONDO:0008381 "OMIM:180210" MONDO:0008381 "Orphanet:791" MONDO:0008381 "DOID:0110420" -MONDO:0008381 "ICD10:H35.5" MONDO:0024489 "NCIT:C28076" MONDO:0016156 "Orphanet:207119" MONDO:0007184 "OMIM:109200" @@ -70465,8 +68713,8 @@ MONDO:0012740 "OMIM:611867" MONDO:0012740 "MESH:C567511" MONDO:0012740 "Orphanet:261330" MONDO:0012740 "UMLS:C4518343" -MONDO:0012740 "ICD10:Q93.5" MONDO:0012740 "DOID:0060413" +MONDO:0012740 "ICD10CM:Q93.5" MONDO:0012740 "UMLS:C2678480" MONDO:0000968 "NCIT:C5101" MONDO:0000968 "DOID:10194" @@ -70476,21 +68724,21 @@ MONDO:0015397 "OMIM:164210" MONDO:0015397 "Orphanet:374" MONDO:0015397 "DOID:2907" MONDO:0015397 "SCTID:367462009" -MONDO:0015397 "ICD10:Q87.0" MONDO:0015397 "ICD9:759.89" MONDO:0015397 "SCTID:109393007" MONDO:0015397 "GARD:0012074" MONDO:0015397 "NCIT:C84740" MONDO:0015397 "UMLS:C0265240" MONDO:0015397 "GARD:0006540" +MONDO:0015397 "ICD10CM:Q87.0" MONDO:0015397 "Orphanet:141132" +MONDO:0017597 "ICD10CM:C83.3" MONDO:0017597 "GARD:0012257" MONDO:0017597 "NCIT:C9496" MONDO:0017597 "Orphanet:300857" MONDO:0017597 "ICDO:9688/3" MONDO:0017597 "UMLS:C1321547" MONDO:0017597 "ONCOTREE:THRLBCL" -MONDO:0017597 "ICD10:C83.3" MONDO:0017597 "ICDO:9680/3" MONDO:0004234 "ICDO:9831/3" MONDO:0004234 "SCTID:722955006" @@ -70510,9 +68758,9 @@ MONDO:0009993 "ICDO:8910/3" MONDO:0009993 "MedDRA:10065868" MONDO:0009993 "GARD:0004702" MONDO:0009993 "UMLS:C0206656" +MONDO:0009993 "ICD10CM:C49.9" MONDO:0009993 "EFO:0000437" MONDO:0009993 "NCIT:C8971" -MONDO:0009993 "ICD10:C49.9" MONDO:0013157 "UMLS:C3150413" MONDO:0013157 "Orphanet:899" MONDO:0013157 "OMIM:613153" @@ -70528,9 +68776,9 @@ MONDO:0003037 "OMIMPS:605389" MONDO:0018953 "MESH:C566826" MONDO:0018953 "OMIM:609597" MONDO:0018953 "Orphanet:60015" -MONDO:0018953 "ICD10:Q75.8" MONDO:0018953 "OMIMPS:168500" MONDO:0018953 "HP:0002697" +MONDO:0018953 "ICD10CM:Q75.8" MONDO:0018953 "SCTID:718099006" MONDO:0018953 "DOID:0060285" MONDO:0018953 "OMIM:609566" @@ -70547,15 +68795,13 @@ MONDO:0002299 "DOID:2436" MONDO:0002299 "UMLS:C0334421" MONDO:0018999 "SCTID:49227001" MONDO:0018999 "OMIM:245900" +MONDO:0018999 "ICD10CM:E78.6" MONDO:0018999 "Orphanet:650" -MONDO:0018999 "ICD10:E78.6" MONDO:0018999 "OMIM:136120" MONDO:0002104 "MESH:D003291" -MONDO:0002104 "ICD10:F44" MONDO:0002104 "ICD9:300.11" MONDO:0002104 "DOID:1768" MONDO:0002104 "GARD:0006191" -MONDO:0008007 "ICD10:K03.5" MONDO:0008007 "MESH:D020254" MONDO:0008007 "ICD9:521.6" MONDO:0008007 "EFO:1001215" @@ -70577,26 +68823,25 @@ MONDO:0010209 "Orphanet:3467" MONDO:0010209 "OMIM:278300" MONDO:0010209 "GARD:0005621" MONDO:0010209 "MESH:C562584" +MONDO:0010209 "ICD10CM:E79.8" MONDO:0010209 "Orphanet:93601" -MONDO:0010209 "ICD10:E79.8" MONDO:0016636 "Orphanet:248401" MONDO:0016636 "UMLS:CN226986" -MONDO:0015613 "ICD10:K00.5" +MONDO:0015613 "Orphanet:1653" +MONDO:0015613 "ICD10CM:K00.5" MONDO:0015613 "ICD9:520.5" MONDO:0015613 "OMIM:125420" MONDO:0015613 "SCTID:109492001" MONDO:0015613 "DOID:701" MONDO:0015613 "OMIM:125400" MONDO:0015613 "MESH:D003805" -MONDO:0015613 "Orphanet:1653" MONDO:0025518 "SCTID:293586001" MONDO:0025518 "DOID:0040002" MONDO:0003677 "DOID:5853" MONDO:0002307 "SCTID:68659002" +MONDO:0002307 "ICD10CM:H10.5" MONDO:0002307 "DOID:2456" MONDO:0002307 "NCIT:C34430" -MONDO:0002307 "ICD10:H10.5" -MONDO:0002307 "ICD10:H10.50" MONDO:0002307 "ICD9:372.2" MONDO:0002307 "ICD9:372.20" MONDO:0002307 "UMLS:C0005743" @@ -70607,7 +68852,7 @@ MONDO:0009039 "UMLS:C0265308" MONDO:0009039 "MESH:C536788" MONDO:0009039 "GARD:0001602" MONDO:0009039 "OMIM:218600" -MONDO:0009039 "ICD10:Q75.0" +MONDO:0009039 "ICD10CM:Q75.0" MONDO:0006049 "EFO:1000046" MONDO:0006049 "DOID:5588" MONDO:0006049 "NCIT:C5650" @@ -70622,7 +68867,6 @@ MONDO:0001895 "ICD9:377.32" MONDO:0001895 "UMLS:C0155301" MONDO:0001895 "DOID:14155" MONDO:0001548 "ICD9:070.42" -MONDO:0001548 "ICD10:K72.91" MONDO:0001548 "UMLS:C0019147" MONDO:0001548 "SCTID:72836002" MONDO:0001548 "DOID:12550" @@ -70632,13 +68876,13 @@ NCBITaxon:787 "GC_ID:11" MONDO:0003748 "DOID:605" MONDO:0003748 "NCIT:C35413" MONDO:0003748 "EFO:1001889" -MONDO:0017146 "ICD10:D57.8" +MONDO:0017146 "ICD10CM:D57.1" MONDO:0017146 "Orphanet:275752" -MONDO:0017146 "ICD10:D57.2" -MONDO:0017146 "ICD10:D57.3" +MONDO:0017146 "ICD10CM:D57.2" +MONDO:0017146 "ICD10CM:D57.8" +MONDO:0017146 "ICD10CM:D57.3" +MONDO:0017146 "ICD10CM:D57.0" MONDO:0017146 "UMLS:CN202572" -MONDO:0017146 "ICD10:D57.0" -MONDO:0017146 "ICD10:D57.1" MONDO:0010340 "UMLS:C1845341" MONDO:0010340 "OMIM:300494" MONDO:0017803 "UMLS:CN203766" @@ -70647,7 +68891,6 @@ MONDO:0013829 "Orphanet:178338" MONDO:0013829 "UMLS:C3553298" MONDO:0013829 "OMIM:614621" MONDO:0004924 "UMLS:C0155240" -MONDO:0004924 "ICD10:H04.42" MONDO:0004924 "DOID:9936" MONDO:0004924 "ICD9:375.41" MONDO:0004924 "SCTID:26479009" @@ -70662,7 +68905,7 @@ MONDO:0019784 "UMLS:CN206727" MONDO:0019784 "Orphanet:94063" MONDO:0019784 "UMLS:C4305140" MONDO:0019784 "SCTID:719046005" -MONDO:0019784 "ICD10:Q93.5" +MONDO:0019784 "ICD10CM:Q93.5" MONDO:0019784 "GARD:0013390" NCBITaxon:59142 "GC_ID:1" MONDO:0002989 "ICDO:8830/0" @@ -70673,9 +68916,9 @@ MONDO:0002989 "DOID:4415" MONDO:0017029 "NCIT:C114929" MONDO:0017029 "UMLS:C3900100" MONDO:0017029 "Orphanet:264750" -MONDO:0018587 "ICD10:P14.3" MONDO:0018587 "Orphanet:439202" MONDO:0018587 "UMLS:CN237616" +MONDO:0018587 "ICD10CM:P14.3" MONDO:0002191 "ICDO:8407/0" MONDO:0002191 "UMLS:C0206673" MONDO:0002191 "NCIT:C3761" @@ -70688,15 +68931,15 @@ MONDO:0003935 "NCIT:C40366" MONDO:0003935 "UMLS:C1518574" MONDO:0008094 "DOID:0111529" MONDO:0008094 "Orphanet:624" +MONDO:0008094 "ICD10CM:Q82.5" MONDO:0008094 "OMIM:163000" MONDO:0008094 "MedDRA:10067193" MONDO:0008094 "SCTID:416377005" MONDO:0008094 "UMLS:CN205384" -MONDO:0008094 "ICD10:Q82.5" MONDO:0008094 "UMLS:C0235752" MONDO:0008094 "GARD:0003986" MONDO:0008094 "NCIT:C3840" -MONDO:0009425 "ICD10:Q75.4" +MONDO:0009425 "ICD10CM:Q75.4" MONDO:0009425 "OMIM:241310" MONDO:0009425 "Orphanet:1790" MONDO:0009425 "GARD:0002907" @@ -70707,15 +68950,15 @@ MONDO:0013088 "Orphanet:545" MONDO:0014034 "GARD:0012815" MONDO:0014034 "OMIM:615074" MONDO:0014034 "Orphanet:363686" -MONDO:0014034 "ICD10:Q87.8" +MONDO:0014034 "ICD10CM:Q87.8" MONDO:0014034 "UMLS:C3554448" MONDO:0014034 "DOID:0070048" MONDO:0010561 "GARD:0006123" MONDO:0010561 "Orphanet:192" MONDO:0010561 "OMIM:303600" +MONDO:0010561 "ICD10CM:Q87.0" MONDO:0010561 "ICD9:759.89" MONDO:0010561 "GARD:0008589" -MONDO:0010561 "ICD10:Q87.0" MONDO:0010561 "MESH:C536435" MONDO:0010561 "UMLS:C0265252" MONDO:0010561 "SCTID:15182000" @@ -70726,8 +68969,8 @@ MONDO:0012159 "OMIM:608935" MONDO:0012159 "UMLS:C1837089" MONDO:0019628 "OMIM:602482" MONDO:0019628 "MedDRA:10059198" -MONDO:0019628 "ICD10:Q13.8" MONDO:0019628 "Orphanet:91483" +MONDO:0019628 "ICD10CM:Q13.8" MONDO:0019628 "OMIM:601631" MONDO:0019628 "OMIM:137600" MONDO:0025382 "MESH:D001357" @@ -70742,11 +68985,11 @@ MONDO:0013101 "UMLS:C2751606" MONDO:0001977 "NCIT:C6175" MONDO:0001977 "DOID:14489" MONDO:0001977 "UMLS:C1336876" -MONDO:0016017 "ICD10:Q86.8" MONDO:0016017 "Orphanet:1923" MONDO:0016017 "GARD:0003573" MONDO:0016017 "SCTID:724144006" MONDO:0016017 "UMLS:C4510379" +MONDO:0016017 "ICD10CM:Q86.8" MONDO:0009783 "GARD:0001191" MONDO:0009783 "UMLS:C4225153" MONDO:0009783 "Orphanet:254886" @@ -70755,8 +68998,8 @@ MONDO:0009783 "DOID:0111522" CL:0000630 "BTO:0002315" MONDO:0013275 "Orphanet:712" MONDO:0013275 "UMLS:C3150730" +MONDO:0013275 "ICD10CM:D55.2" MONDO:0013275 "UMLS:CN072763" -MONDO:0013275 "ICD10:D55.2" MONDO:0013275 "GARD:0002502" MONDO:0013275 "OMIM:613470" MONDO:0011963 "DOID:0110988" @@ -70768,11 +69011,12 @@ MONDO:0011963 "Orphanet:2318" MONDO:0010091 "OMIM:272430" MONDO:0010091 "GARD:0001611" MONDO:0010091 "DOID:0080329" -MONDO:0010091 "ICD10:G90.8" MONDO:0010091 "Orphanet:1545" MONDO:0010091 "MESH:C536214" MONDO:0010091 "SCTID:725097006" MONDO:0010091 "Orphanet:157820" +MONDO:0010091 "ICD10CM:G90.8" +MONDO:0010091 "OMIM:601378" MONDO:0020266 "Orphanet:98696" MONDO:0002698 "NCIT:C39911" MONDO:0002698 "UMLS:C1515283" @@ -70785,15 +69029,15 @@ MONDO:0023642 "SCTID:24654003" MONDO:0023642 "ICD9:344.89" MONDO:0023642 "UMLS:C0455717" MONDO:0023642 "GARD:0008676" +MONDO:0008717 "ICD10CM:Q78.8" MONDO:0008717 "OMIM:201250" -MONDO:0008717 "ICD10:Q78.8" MONDO:0008717 "DOID:0080051" MONDO:0008717 "GARD:0000506" MONDO:0008717 "Orphanet:968" MONDO:0030439 "OMIM:619528" MONDO:0016709 "Orphanet:251855" MONDO:0016709 "UMLS:C4330531" -MONDO:0016709 "ICD10:C71.6" +MONDO:0016709 "ICD10CM:C71.6" MONDO:0016709 "NCIT:C129436" MONDO:0016709 "ONCOTREE:AMBL" NCBITaxon:672 "PMID:8186099" @@ -70805,9 +69049,8 @@ MONDO:0013322 "Orphanet:86814" MONDO:0013322 "OMIM:613608" MONDO:0013322 "UMLS:C3150860" MONDO:0000922 "ICD9:614.8" -MONDO:0000922 "ICD10:N73.9" -MONDO:0000922 "ICD10:N70-N77" MONDO:0000922 "EFO:1001388" +MONDO:0000922 "ICD10CM:N70-N77" MONDO:0000922 "UMLS:C0242172" MONDO:0000922 "NCIT:C3889" MONDO:0000922 "MESH:D000292" @@ -70826,12 +69069,12 @@ MONDO:0007856 "MESH:C536164" MONDO:0002885 "SCTID:264207005" MONDO:0002885 "ICD9:041.85" MONDO:0002885 "UMLS:C2364003" -MONDO:0002885 "ICD10:L08.1" MONDO:0002885 "EFO:1000696" +MONDO:0002885 "ICD10CM:L08.1" MONDO:0002885 "DOID:4131" MONDO:0002885 "MESH:D004894" MONDO:0002885 "UMLS:C0014752" -MONDO:0011330 "ICD10:G11.2" +MONDO:0011330 "ICD10CM:G11.2" MONDO:0011330 "UMLS:C1963674" MONDO:0011330 "GARD:0010474" MONDO:0011330 "Orphanet:98761" @@ -70860,7 +69103,6 @@ MONDO:0015898 "UMLS:CN200506" MONDO:0015898 "MESH:D047808" MONDO:0015898 "UMLS:C0302280" MONDO:0015898 "ICD9:255.2" -MONDO:0019216 "ICD10:E72.0" MONDO:0019216 "ICD9:270.0" MONDO:0019216 "UMLS:C0268641" MONDO:0019216 "SCTID:16784003" @@ -70874,33 +69116,32 @@ MONDO:0020500 "MESH:D008379" MONDO:0020500 "GARD:0009444" MONDO:0020500 "MedDRA:10026822" MONDO:0020500 "NCIT:C84883" -MONDO:0020500 "ICD10:A98.3" MONDO:0020500 "DOID:4327" MONDO:0020500 "Orphanet:99826" MONDO:0009204 "SCTID:719400000" MONDO:0009204 "GARD:0002229" -MONDO:0009204 "ICD10:Q87.8" MONDO:0009204 "MESH:C565578" +MONDO:0009204 "ICD10CM:Q87.8" MONDO:0009204 "Orphanet:1972" MONDO:0009204 "UMLS:C1856891" MONDO:0009204 "OMIM:227270" HP:0004348 "UMLS:C4021657" HP:0001273 "UMLS:C1842581" NCBITaxon:10310 "GC_ID:1" -MONDO:0015132 "ICD10:D80.8" -MONDO:0015132 "ICD10:D80.3" -MONDO:0015132 "ICD10:D80.5" -MONDO:0015132 "ICD10:D80.1" -MONDO:0015132 "ICD10:D80.7" +MONDO:0015132 "ICD10CM:D80.9" +MONDO:0015132 "ICD10CM:D80.6" +MONDO:0015132 "ICD10CM:D80.7" MONDO:0015132 "Orphanet:101977" -MONDO:0015132 "ICD10:D80.2" -MONDO:0015132 "ICD10:D80.4" -MONDO:0015132 "ICD10:D80.0" -MONDO:0015132 "ICD10:D80.6" -MONDO:0015132 "ICD10:D80.9" +MONDO:0015132 "ICD10CM:D80.4" +MONDO:0015132 "ICD10CM:D80.0" +MONDO:0015132 "ICD10CM:D80.2" +MONDO:0015132 "ICD10CM:D80.5" +MONDO:0015132 "ICD10CM:D80.1" +MONDO:0015132 "ICD10CM:D80.3" +MONDO:0015132 "ICD10CM:D80.8" MONDO:0008466 "Orphanet:2329" MONDO:0008466 "UMLS:C1866740" -MONDO:0008466 "ICD10:Q87.2" +MONDO:0008466 "ICD10CM:Q87.2" MONDO:0008466 "GARD:0004967" MONDO:0008466 "OMIM:183800" MONDO:0008466 "SCTID:722032005" @@ -70908,7 +69149,6 @@ MONDO:0008466 "MESH:C537319" MONDO:0004926 "ICD9:375.30" MONDO:0004926 "NCIT:C34521" MONDO:0004926 "MESH:D003607" -MONDO:0004926 "ICD10:H04.30" MONDO:0004926 "DOID:9938" MONDO:0004926 "UMLS:C0010930" MONDO:0004926 "SCTID:85777005" @@ -70919,32 +69159,32 @@ MONDO:0018531 "Orphanet:424936" MONDO:0007269 "DOID:0110425" MONDO:0007269 "UMLS:C1449563" MONDO:0007269 "Orphanet:300751" +MONDO:0007269 "ICD10CM:I42.0" MONDO:0007269 "SCTID:766883006" MONDO:0007269 "OMIM:115200" MONDO:0007269 "GARD:0001104" -MONDO:0007269 "ICD10:I42.0" MONDO:0001756 "NCIT:C3542" +MONDO:0001756 "ICD10CM:C31.2" MONDO:0001756 "DOID:1360" MONDO:0001756 "SCTID:363427000" -MONDO:0001756 "ICD10:C31.2" MONDO:0001756 "UMLS:C0153478" MONDO:0001756 "ICD9:160.4" MONDO:0007659 "MESH:C564237" MONDO:0007659 "UMLS:C1842035" MONDO:0007659 "OMIM:137560" CL:1000549 "KUPO:0001063" -MONDO:0017311 "ICD10:I71.1" +MONDO:0017311 "ICD10CM:I71.1" +MONDO:0017311 "ICD10CM:I71.2" MONDO:0017311 "UMLS:CN202889" -MONDO:0017311 "ICD10:I71.2" MONDO:0017311 "Orphanet:285014" MONDO:0011085 "GARD:0003973" MONDO:0011085 "OMIM:601455" MONDO:0011085 "UMLS:C1832334" MONDO:0011085 "DOID:0110186" MONDO:0011085 "Orphanet:99950" +MONDO:0011085 "ICD10CM:G60.0" MONDO:0011085 "SCTID:715798007" MONDO:0011085 "MESH:C535716" -MONDO:0011085 "ICD10:G60.0" NCBITaxon:136 "PMID:16558735" NCBITaxon:136 "PMID:1917844" NCBITaxon:136 "PMID:23908650" @@ -70954,20 +69194,17 @@ NCBITaxon:136 "PMID:11075904" MONDO:0016206 "UMLS:CN200962" MONDO:0016206 "Orphanet:209956" MONDO:0019387 "UMLS:CN206081" -MONDO:0019387 "ICD10:Q87.0" MONDO:0019387 "Orphanet:83619" +MONDO:0019387 "ICD10CM:Q87.0" MONDO:0003937 "MESH:D013166" -MONDO:0003937 "ICD10:M46" MONDO:0003937 "ICD9:720.89" MONDO:0003937 "DOID:6590" MONDO:0003937 "ICD9:720.8" MONDO:0003937 "SCTID:84172003" MONDO:0003937 "NCIT:C116779" MONDO:0015490 "Orphanet:156146" -MONDO:0020045 "ICD10:G11.3" MONDO:0020045 "UMLS:CN227741" MONDO:0020045 "Orphanet:98097" -MONDO:0019563 "ICD10:M34.1" MONDO:0019563 "SCTID:31848007" MONDO:0019563 "NCIT:C70646" MONDO:0019563 "UMLS:C0206138" @@ -70978,8 +69215,8 @@ MONDO:0019563 "MESH:D017675" MONDO:0019563 "MedDRA:10011380" MONDO:0019563 "Orphanet:90290" MONDO:0009070 "NCIT:C128804" -MONDO:0009070 "ICD10:E74.8" MONDO:0009070 "DOID:0111626" +MONDO:0009070 "ICD10CM:E74.8" MONDO:0009070 "UMLS:C0342765" MONDO:0009070 "MESH:C535767" MONDO:0009070 "OMIM:220120" @@ -70988,10 +69225,10 @@ MONDO:0009070 "GARD:0000234" MONDO:0009070 "UMLS:C1291386" MONDO:0009070 "Orphanet:941" MONDO:0016573 "Orphanet:243367" -MONDO:0016573 "ICD10:O26.6" MONDO:0016573 "GARD:0009578" MONDO:0016573 "UMLS:C1455728" MONDO:0016573 "MESH:C537957" +MONDO:0016573 "ICD10CM:O26.6" MONDO:0016573 "MedDRA:10000746" MONDO:0016573 "SCTID:716379000" MONDO:0014894 "OMIM:617063" @@ -71017,20 +69254,20 @@ MONDO:0002360 "MESH:D002812" MONDO:0002360 "DOID:2602" MONDO:0008687 "OMIM:194320" MONDO:0018752 "Orphanet:466650" -MONDO:0018752 "ICD10:T88.3" +MONDO:0018752 "ICD10CM:T88.3" MONDO:0018752 "SCTID:735907005" MONDO:0009633 "OMIM:251750" MONDO:0009633 "UMLS:C3538951" MONDO:0009633 "Orphanet:238763" MONDO:0001979 "SCTID:80193009" MONDO:0001979 "DOID:14495" -MONDO:0001979 "ICD10:K91.1" MONDO:0001979 "EFO:1001307" MONDO:0001979 "UMLS:C0013288" MONDO:0001979 "NCIT:C2994" MONDO:0001979 "MESH:D004377" MONDO:0017647 "UMLS:CN203539" MONDO:0017647 "Orphanet:306727" +MONDO:0041806 "ICD10CM:Z16-Z16" MONDO:0041806 "SCTID:423709000" CL:0002202 "FMA:66816" MONDO:0021073 "UMLS:C0030472" @@ -71039,15 +69276,15 @@ MONDO:0021073 "NCIT:C3311" MONDO:0021073 "SCTID:49783001" MONDO:0016760 "Orphanet:2528" MONDO:0016760 "GARD:0003627" -MONDO:0016760 "ICD10:Q87.8" +MONDO:0016760 "ICD10CM:Q87.8" MONDO:0016760 "SCTID:715464002" MONDO:0016760 "MESH:C537539" MONDO:0012324 "Orphanet:2055" MONDO:0012324 "MESH:C535639" -MONDO:0012324 "ICD10:Q93.5" MONDO:0012324 "OMIM:609640" MONDO:0012324 "UMLS:C1864825" MONDO:0012324 "GARD:0002384" +MONDO:0012324 "ICD10CM:Q93.5" MONDO:0012324 "Orphanet:264200" MONDO:0013882 "Orphanet:247262" MONDO:0013882 "UMLS:C3553637" @@ -71063,16 +69300,14 @@ MONDO:0005498 "UMLS:C0006057" MONDO:0005498 "DOID:11976" MONDO:0005498 "MESH:D001906" MONDO:0005498 "MedDRA:10006041" -MONDO:0005498 "ICD10:A05.1" MONDO:0005498 "Orphanet:1267" MONDO:0005498 "SCTID:398523009" +MONDO:0009291 "ICD10CM:E74.0" MONDO:0009291 "MedDRA:10053250" MONDO:0009291 "MESH:D006010" -MONDO:0009291 "ICD10:E74.03" MONDO:0009291 "UMLS:C0017922" MONDO:0009291 "DOID:2748" MONDO:0009291 "Orphanet:366" -MONDO:0009291 "ICD10:E74.0" MONDO:0009291 "UMLS:CN204781" MONDO:0009291 "GARD:0009442" MONDO:0009291 "SCTID:66937008" @@ -71085,21 +69320,21 @@ MONDO:0008874 "OMIM:210740" MONDO:0008874 "MESH:C537902" MONDO:0008874 "SCTID:237614004" MONDO:0008874 "ICD9:759.89" -MONDO:0008874 "ICD10:E31.8" +MONDO:0008874 "ICD10CM:E31.8" MONDO:0008874 "Orphanet:1227" MONDO:0014503 "Orphanet:453521" +MONDO:0014503 "ICD10CM:G11.1" MONDO:0014503 "OMIM:616127" MONDO:0014503 "DOID:0080064" -MONDO:0014503 "ICD10:G11.1" MONDO:0014503 "UMLS:C4015301" MONDO:0008186 "UMLS:C1868652" MONDO:0008186 "MESH:C566836" MONDO:0008186 "OMIM:167850" MONDO:0034103 "Orphanet:544482" +MONDO:0018251 "ICD10CM:E74.0" MONDO:0018251 "SCTID:235908005" MONDO:0018251 "UMLS:C0268147" MONDO:0018251 "SCTID:40191005" -MONDO:0018251 "ICD10:E74.0" MONDO:0018251 "NCIT:C122662" MONDO:0018251 "DOID:0050594" MONDO:0018251 "Orphanet:370" @@ -71110,7 +69345,7 @@ MONDO:0010366 "OMIM:300581" MONDO:0010366 "Orphanet:323" MONDO:0010366 "UMLS:C1845119" MONDO:0020431 "Orphanet:99100" -MONDO:0020431 "ICD10:Q20.8" +MONDO:0020431 "ICD10CM:Q20.8" MONDO:0013765 "OMIM:614466" MONDO:0005506 "NCIT:C5559" MONDO:0005506 "EFO:0005553" @@ -71125,14 +69360,13 @@ MONDO:0004790 "SCTID:371330000" MONDO:0004790 "ICD9:571.8" MONDO:0004790 "ICD9:571.0" MONDO:0004790 "EFO:0003934" -MONDO:0004790 "ICD10:K70.0" MONDO:0004790 "UMLS:C0015696" MONDO:0004790 "MESH:D005234" MONDO:0044280 "OMIM:614411" MONDO:0043112 "UMLS:C2931742" MONDO:0043112 "MESH:C538131" MONDO:0043112 "GARD:0003157" -MONDO:0012545 "ICD10:E75.5" +MONDO:0012545 "ICD10CM:E75.5" MONDO:0012545 "OMIM:610717" MONDO:0012545 "GARD:0010288" MONDO:0012545 "Orphanet:98908" @@ -71149,7 +69383,7 @@ MONDO:0009456 "OMIM:242880" MONDO:0009456 "UMLS:CN074232" MONDO:0009456 "UMLS:C0272167" MONDO:0021463 "NCIT:C3630" -MONDO:0021463 "ICD10:D35.1" +MONDO:0021463 "ICD10CM:D35.1" MONDO:0021463 "SCTID:92272009" MONDO:0021463 "DOID:60008" MONDO:0021463 "ICD9:227.1" @@ -71161,7 +69395,6 @@ MONDO:0005864 "UMLS:C0027095" MONDO:0005864 "UMLS:C0684743" MONDO:0005864 "SCTID:363495004" MONDO:0005864 "ICDO:8895/3" -MONDO:0005864 "ICD10:C49" MONDO:0005864 "EFO:0007384" MONDO:0005864 "ICD9:171.9" MONDO:0005864 "NCIT:C4883" @@ -71171,49 +69404,48 @@ MONDO:0003430 "NCIT:C7910" MONDO:0003430 "DOID:5396" MONDO:0003430 "UMLS:C1334614" MONDO:0003430 "NCIT:C5962" -MONDO:0006947 "UMLS:C0020545" +MONDO:0006947 "ICD10CM:I15.0" MONDO:0006947 "ICD9:405.91" -MONDO:0006947 "ICD10:I15.0" MONDO:0006947 "EFO:1001153" MONDO:0006947 "HP:0100817" MONDO:0006947 "NCIT:C85044" MONDO:0006947 "SCTID:123799005" MONDO:0006947 "DOID:1591" +MONDO:0006947 "UMLS:C0020545" CL:0002306 "FMA:70973" CL:0002306 "KUPO:0001044" CL:0002306 "FMA:62125" NCBITaxon:2082223 "GC_ID:1" -MONDO:0020502 "ICD10:A95.1" +MONDO:0013986 "DOID:0111477" +MONDO:0013986 "UMLS:C3554168" +MONDO:0013986 "Orphanet:319519" +MONDO:0013986 "OMIM:614946" +MONDO:0013986 "ICD10CM:E88.8" +MONDO:0012732 "OMIM:611808" +MONDO:0012732 "UMLS:C2678494" +MONDO:0012732 "MESH:C567519" MONDO:0020502 "ICD9:060" MONDO:0020502 "UMLS:C0043397" +MONDO:0020502 "ICD10CM:A95.9" MONDO:0020502 "UMLS:C0043395" MONDO:0020502 "MedDRA:10048240" -MONDO:0020502 "ICD10:A95.0" MONDO:0020502 "NCIT:C35547" +MONDO:0020502 "ICD10CM:A95.1" MONDO:0020502 "Orphanet:99829" -MONDO:0020502 "ICD10:A95" -MONDO:0020502 "ICD10:A95.9" +MONDO:0020502 "ICD10CM:A95.0" MONDO:0020502 "ICD9:060.9" MONDO:0020502 "DOID:9682" MONDO:0020502 "UMLS:C0043398" MONDO:0020502 "GARD:0007914" MONDO:0020502 "MESH:D015004" -MONDO:0013986 "ICD10:E88.8" -MONDO:0013986 "DOID:0111477" -MONDO:0013986 "UMLS:C3554168" -MONDO:0013986 "Orphanet:319519" -MONDO:0013986 "OMIM:614946" -MONDO:0012732 "OMIM:611808" -MONDO:0012732 "UMLS:C2678494" -MONDO:0012732 "MESH:C567519" MONDO:0021569 "Orphanet:261" MONDO:0021569 "OMIM:159001" +MONDO:0021569 "ICD10CM:G71.0" MONDO:0021569 "UMLS:C1834653" MONDO:0021569 "UMLS:C2750035" MONDO:0021569 "SCTID:718178006" MONDO:0021569 "ICD9:425.4" MONDO:0021569 "OMIM:181350" -MONDO:0021569 "ICD10:G71.0" MONDO:0021569 "DOID:0070247" MONDO:0021569 "Orphanet:98853" MONDO:0021569 "MESH:C535898" @@ -71230,9 +69462,8 @@ MONDO:0021745 "MESH:C535569" MONDO:0016352 "OMIM:607258" MONDO:0016352 "OMIM:143870" MONDO:0016352 "Orphanet:2197" -MONDO:0016352 "ICD10:E83.5" +MONDO:0016352 "ICD10CM:E83.5" MONDO:0011994 "MESH:C564272" -MONDO:0011994 "ICD10:H90.3" MONDO:0011994 "UMLS:C1842371" MONDO:0011994 "OMIM:608224" MONDO:0011994 "DOID:0110567" @@ -71242,8 +69473,8 @@ MONDO:0003046 "SCTID:126849006" MONDO:0003046 "EFO:0003835" MONDO:0003046 "UMLS:C0003463" MONDO:0003046 "DOID:4551" +MONDO:0007551 "ICD10CM:Q81.0" MONDO:0007551 "DOID:0080510" -MONDO:0007551 "ICD10:Q81.0" MONDO:0007551 "SCTID:294705005" MONDO:0007551 "ICD9:757.39" MONDO:0007551 "OMIM:131800" @@ -71266,7 +69497,6 @@ MONDO:0014590 "UMLS:C4225364" MONDO:0001758 "DOID:1362" MONDO:0001758 "UMLS:C1335342" MONDO:0001758 "NCIT:C6849" -MONDO:0010950 "ICD10:E10" MONDO:0010950 "UMLS:C1833218" MONDO:0010950 "MESH:C563433" MONDO:0010950 "OMIM:600883" @@ -71276,17 +69506,17 @@ MONDO:0054771 "OMIM:617928" MONDO:0032750 "DOID:0111601" MONDO:0032750 "OMIM:618435" MONDO:0014568 "Orphanet:444099" +MONDO:0014568 "ICD10CM:G11.4" MONDO:0014568 "DOID:0110818" MONDO:0014568 "OMIM:616282" -MONDO:0014568 "ICD10:G11.4" MONDO:0014568 "UMLS:C4225387" MONDO:0013314 "UMLS:C3150819" MONDO:0013314 "OMIM:613581" MONDO:0013314 "DOID:0110371" -MONDO:0013314 "ICD10:H35.5" MONDO:0013314 "Orphanet:791" MONDO:0033618 "OMIM:619033" MONDO:0003233 "DOID:4990" +MONDO:0003233 "ICD10CM:G25.0" MONDO:0003233 "EFO:0003108" MONDO:0003233 "SCTID:609558009" MONDO:0003233 "Orphanet:862" @@ -71295,17 +69525,14 @@ MONDO:0003233 "OMIMPS:190300" MONDO:0003233 "OMIM:602134" MONDO:0003233 "MESH:D020329" MONDO:0003233 "OMIM:190300" -MONDO:0003233 "ICD10:G25.0" MONDO:0003233 "OMIM:614782" MONDO:0003233 "ICD9:333.1" MONDO:0003233 "OMIM:611456" MONDO:0001921 "DOID:14248" MONDO:0001921 "UMLS:C0155441" -MONDO:0001921 "UMLS:C0565831" MONDO:0001921 "ICD9:382.2" -MONDO:0001921 "ICD10:H66.2" +MONDO:0001921 "UMLS:C0565831" MONDO:0001921 "SCTID:267759006" -MONDO:0001921 "ICD10:H66.20" MONDO:0009048 "OMIM:219070" CL:0000023 "WBbt:0006797" CL:0000023 "FMA:18644" @@ -71313,12 +69540,12 @@ CL:0000023 "FBbt:00004886" CL:0000023 "BTO:0000964" CL:0000023 "CALOHA:TS-0711" MONDO:0030977 "OMIM:619216" -MONDO:0010145 "UMLS:C1848758" -MONDO:0010145 "MESH:C564764" -MONDO:0010145 "OMIM:275230" MONDO:0054654 "DOID:0111492" MONDO:0054654 "OMIM:617664" MONDO:0054654 "UMLS:C4540029" +MONDO:0010145 "UMLS:C1848758" +MONDO:0010145 "MESH:C564764" +MONDO:0010145 "OMIM:275230" MONDO:0020210 "UMLS:CN227820" MONDO:0020210 "Orphanet:98622" NCBITaxon:452563 "GC_ID:1" @@ -71333,25 +69560,23 @@ MONDO:0004547 "UMLS:C1515308" MONDO:0024517 "OMIM:162091" MONDO:0024517 "Orphanet:93921" MONDO:0024517 "UMLS:C4048809" -MONDO:0019082 "ICD10:L12.0" +MONDO:0019082 "ICD10CM:L12.0" MONDO:0019082 "NCIT:C84389" MONDO:0019082 "UMLS:C0030805" MONDO:0019082 "ICD9:694.5" MONDO:0019082 "GARD:0005972" MONDO:0019082 "MESH:D010391" -MONDO:0019082 "ICD10:L12.9" -MONDO:0019082 "DOID:8506" MONDO:0019082 "EFO:0007187" +MONDO:0019082 "DOID:8506" MONDO:0019082 "SCTID:77090002" MONDO:0019082 "Orphanet:703" -MONDO:0019082 "ICD10:L12" MONDO:0018101 "OMIM:611718" +MONDO:0018101 "ICD10CM:E83.4" MONDO:0018101 "OMIM:613882" MONDO:0018101 "OMIM:616418" MONDO:0018101 "UMLS:CN204443" MONDO:0018101 "SCTID:725031005" MONDO:0018101 "UMLS:C4510731" -MONDO:0018101 "ICD10:E83.4" MONDO:0018101 "Orphanet:34527" MONDO:0017812 "UMLS:CN203781" MONDO:0017812 "Orphanet:314662" @@ -71362,38 +69587,39 @@ MONDO:0006726 "DOID:10480" MONDO:0006726 "SCTID:34168003" MONDO:0006726 "NCIT:C98912" MONDO:0006726 "MESH:D003965" -MONDO:0006726 "ICD10:Q79.1" MONDO:0006726 "EFO:1000898" MONDO:0006726 "HP:0009110" NCBITaxon:1933309 "GC_ID:1" MONDO:0017084 "Orphanet:268838" MONDO:0015468 "UMLS:CN226684" MONDO:0015468 "Orphanet:1530" -MONDO:0015468 "ICD10:Q75.0" +MONDO:0015468 "ICD10CM:Q75.0" MONDO:0018030 "MESH:C538027" -MONDO:0018030 "ICD10:Q99.8" MONDO:0018030 "Orphanet:3310" MONDO:0018030 "GARD:0000042" MONDO:0018030 "UMLS:C0795832" +MONDO:0018030 "ICD10CM:Q99.8" MONDO:0018030 "SCTID:715530004" -MONDO:0005151 "NCIT:C3009" MONDO:0005151 "SCTID:362969004" -MONDO:0005151 "UMLS:C0014130" +MONDO:0005151 "ICD10CM:E20-E35" +MONDO:0005151 "ICD9:259.9" +MONDO:0005151 "ICD10CM:E00-E89" +MONDO:0005151 "NCIT:C3009" +MONDO:0005151 "ICD10CM:P70-P74" +MONDO:0005151 "MESH:D004700" MONDO:0005151 "EFO:0001379" +MONDO:0005151 "UMLS:C0014130" MONDO:0005151 "DOID:28" -MONDO:0005151 "MESH:D004700" -MONDO:0005151 "ICD10:E34.9" MONDO:0005151 "ICD9:259.8" -MONDO:0005151 "ICD9:259.9" MONDO:0018557 "Orphanet:434786" MONDO:0018557 "UMLS:CN237558" MONDO:0037870 "SCTID:444756000" MONDO:0037870 "UMLS:C2919304" -MONDO:0000138 "HP:0005871" -MONDO:0000138 "SCTID:28681006" HP:0000741 "UMLS:C0085632" HP:0000741 "SNOMEDCT_US:20602000" HP:0000741 "MSH:D057565" +MONDO:0000138 "HP:0005871" +MONDO:0000138 "SCTID:28681006" MONDO:0008351 "MESH:C566731" MONDO:0008351 "OMIM:178800" MONDO:0008351 "GARD:0008291" @@ -71411,58 +69637,56 @@ MONDO:0012190 "OMIM:609057" MONDO:0001251 "SCTID:718052004" MONDO:0001251 "ICD9:522.6" MONDO:0001251 "UMLS:C0392492" +MONDO:0001251 "ICD10CM:K04.5" MONDO:0001251 "DOID:11269" -MONDO:0001251 "ICD10:K04.5" MONDO:0007154 "SCTID:234142008" MONDO:0007154 "GARD:0003020" MONDO:0007154 "UMLS:C0007772" MONDO:0007154 "MESH:D002538" MONDO:0007154 "DOID:0060688" MONDO:0007154 "NCIT:C2936" +MONDO:0007154 "ICD10CM:Q28.2" MONDO:0007154 "Orphanet:46724" MONDO:0007154 "OMIM:108010" -MONDO:0007154 "ICD10:Q28.2" MONDO:0004768 "SCTID:88151007" MONDO:0004768 "MESH:D007637" -MONDO:0004768 "ICD10:H16.20" MONDO:0004768 "ICD9:370.49" MONDO:0004768 "HP:0001096" MONDO:0004768 "ICD9:370.8" +MONDO:0004768 "ICD10CM:H16.2" MONDO:0004768 "UMLS:C0022573" MONDO:0004768 "DOID:9368" MONDO:0004768 "NCIT:C34744" -MONDO:0004768 "ICD10:H16.2" MONDO:0004768 "ICD9:370.40" MONDO:0014043 "OMIM:615095" MONDO:0014043 "UMLS:C4510378" MONDO:0014043 "Orphanet:329228" MONDO:0014043 "SCTID:724141003" -MONDO:0014043 "ICD10:Q87.1" +MONDO:0014043 "ICD10CM:Q87.1" MONDO:0014043 "DOID:0070294" MONDO:0014043 "UMLS:C3554499" MONDO:0007330 "SCTID:70794004" -MONDO:0007330 "ICD10:Q74.0" MONDO:0007330 "Orphanet:66630" +MONDO:0007330 "ICD10CM:Q74.0" MONDO:0007330 "OMIM:118980" MONDO:0007330 "MESH:C562548" MONDO:0010403 "Orphanet:998" MONDO:0010403 "MESH:C537042" MONDO:0010403 "SCTID:722285005" +MONDO:0010403 "ICD10CM:H90.5" MONDO:0010403 "GARD:0000589" MONDO:0010403 "SCTID:74320008" -MONDO:0010403 "ICD10:H90.5" MONDO:0010403 "OMIM:300700" MONDO:0005714 "UMLS:C0039131" MONDO:0005714 "NCIT:C84649" MONDO:0005714 "MESH:D013590" MONDO:0005714 "DOID:9856" -MONDO:0005714 "ICD10:A50.9" MONDO:0005714 "EFO:0007219" MONDO:0005714 "Orphanet:499009" MONDO:0005714 "SCTID:35742006" MONDO:0005714 "ICD9:090.9" -MONDO:0005714 "ICD10:A50" MONDO:0005714 "ICD9:090" +MONDO:0005714 "ICD10CM:A50" NCBITaxon:2560602 "GC_ID:1" MONDO:0025712 "OMIM:619360" MONDO:0030116 "OMIM:618905" @@ -71473,8 +69697,8 @@ MONDO:0033482 "DOID:0111743" MONDO:0033482 "OMIM:617931" MONDO:0016072 "Orphanet:202940" MONDO:0019589 "UMLS:CN206426" +MONDO:0019589 "ICD10CM:H90.3" MONDO:0019589 "Orphanet:90642" -MONDO:0019589 "ICD10:H90.3" MONDO:0019589 "SCTID:232333009" MONDO:0008679 "UMLS:CN033288" MONDO:0008679 "MESH:D009396" @@ -71489,10 +69713,9 @@ MONDO:0008679 "NCIT:C40407" MONDO:0008679 "NCIT:C6180" MONDO:0006592 "ICD9:696.2" MONDO:0006592 "NCIT:C3312" -MONDO:0006592 "ICD10:L41" MONDO:0006592 "DOID:9088" MONDO:0006592 "EFO:1000747" -MONDO:0006592 "ICD10:L41.9" +MONDO:0006592 "ICD10CM:L41" MONDO:0006592 "UMLS:C0030491" MONDO:0006592 "MESH:D010267" MONDO:0006592 "Wikipedia:Parapsoriasis" @@ -71504,7 +69727,6 @@ MONDO:0018744 "UMLS:C1335110" MONDO:0018744 "NCIT:C6960" MONDO:0054550 "OMIM:608805" MONDO:0001579 "SCTID:52476003" -MONDO:0001579 "ICD10:H18.72" MONDO:0001579 "ICD9:371.73" MONDO:0001579 "DOID:12753" MONDO:0001579 "UMLS:C0152440" @@ -71520,10 +69742,9 @@ MONDO:0013284 "Orphanet:1572" MONDO:0013284 "UMLS:C3150739" MONDO:0005372 "DOID:12336" MONDO:0005372 "ICD9:606.9" -MONDO:0005372 "ICD10:N46" +MONDO:0005372 "ICD10CM:N46" MONDO:0005372 "UMLS:C0021364" MONDO:0005372 "EFO:0004248" -MONDO:0005372 "ICD10:N46.9" MONDO:0005372 "MESH:D007248" MONDO:0005372 "SCTID:2904007" MONDO:0005372 "ICD9:606" @@ -71532,8 +69753,8 @@ MONDO:0004955 "DOID:14221" MONDO:0004955 "OMIM:605552" MONDO:0004955 "Orphanet:411969" MONDO:0004955 "NCIT:C84442" +MONDO:0004955 "ICD10CM:E88.81" MONDO:0004955 "EFO:0000195" -MONDO:0004955 "ICD10:E88.81" MONDO:0004955 "SCTID:237602007" MONDO:0004955 "OMIM:615812" MONDO:0004955 "MESH:D024821" @@ -71558,7 +69779,6 @@ MONDO:0010602 "DOID:12134" MONDO:0010602 "Orphanet:98878" MONDO:0010602 "SCTID:234440005" MONDO:0010602 "MESH:D006467" -MONDO:0010602 "ICD10:D66" MONDO:0010602 "MedDRA:10016080" MONDO:0010602 "GARD:0006591" MONDO:0010602 "OMIM:134500" @@ -71576,7 +69796,6 @@ MONDO:0002183 "DOID:204" MONDO:0002183 "UMLS:C0242490" MONDO:0002183 "SCTID:23680005" MONDO:0002183 "MESH:D012216" -MONDO:0002183 "ICD10:M77.9" MONDO:0011135 "MESH:C566638" MONDO:0011135 "OMIM:601708" MONDO:0011135 "UMLS:C1866424" @@ -71585,16 +69804,16 @@ MONDO:0000871 "EFO:1001947" MONDO:0000871 "DOID:0080145" MONDO:0000871 "UMLS:C0279583" MONDO:0000871 "NCIT:C7953" +MONDO:0024381 "UMLS:C0231311" +MONDO:0024381 "ICD10CM:G47.25" MONDO:0007529 "OMIM:130100" MONDO:0007529 "GARD:0010103" MONDO:0007529 "UMLS:C0221271" MONDO:0007529 "Orphanet:79148" MONDO:0007529 "SCTID:49428008" -MONDO:0007529 "ICD10:L87.2" MONDO:0007529 "MESH:C536202" MONDO:0007529 "MedDRA:10014338" -MONDO:0024381 "UMLS:C0231311" -MONDO:0024381 "ICD10:G47.25" +MONDO:0007529 "ICD10CM:L87.2" MONDO:0054843 "OMIM:618063" MONDO:0054843 "UMLS:CN252651" MONDO:0006201 "UMLS:C1333473" @@ -71602,7 +69821,7 @@ MONDO:0006201 "DOID:2764" MONDO:0006201 "EFO:1000246" MONDO:0006201 "NCIT:C6238" MONDO:0007412 "GARD:0000332" -MONDO:0007412 "ICD10:Q87.8" +MONDO:0007412 "ICD10CM:Q87.8" MONDO:0007412 "OMIM:123790" MONDO:0007412 "UMLS:C1852406" MONDO:0007412 "SCTID:703528008" @@ -71616,7 +69835,6 @@ MONDO:0009718 "MedDRA:10028663" MONDO:0009718 "UMLS:C0027145" MONDO:0009718 "EFO:1001055" MONDO:0009718 "SCTID:43153006" -MONDO:0009718 "ICD10:E03.9" MONDO:0009718 "MESH:D009230" MONDO:0009718 "NCIT:C34834" MONDO:0009718 "DOID:11634" @@ -71627,19 +69845,19 @@ MONDO:0006611 "SCTID:55941000" MONDO:0006611 "Wikipedia:Cutaneous_manifestations_of_sarcoidosis" MONDO:0006611 "EFO:1000767" MONDO:0006611 "NCIT:C34996" -MONDO:0006611 "ICD10:D86.3" MONDO:0006611 "UMLS:C0036203" +MONDO:0006611 "ICD10CM:D86.3" MONDO:0006611 "DOID:13402" -MONDO:0001923 "ICD9:362.73" -MONDO:0001923 "ICD10:H35.51" -MONDO:0001923 "SCTID:79556007" -MONDO:0001923 "DOID:14251" -MONDO:0001923 "UMLS:C0154863" +MONDO:0020307 "ICD10CM:G40.0" MONDO:0020307 "UMLS:CN207127" MONDO:0020307 "Orphanet:98815" MONDO:0020307 "SCTID:230387008" MONDO:0020307 "ICD9:345.80" -MONDO:0020307 "ICD10:G40.0" +MONDO:0001923 "ICD10CM:H35.51" +MONDO:0001923 "ICD9:362.73" +MONDO:0001923 "SCTID:79556007" +MONDO:0001923 "DOID:14251" +MONDO:0001923 "UMLS:C0154863" MONDO:0008913 "OMIM:212093" MONDO:0008913 "MESH:C565882" MONDO:0008913 "UMLS:C1859330" @@ -71649,8 +69867,8 @@ MONDO:0012576 "Orphanet:683" MONDO:0012576 "OMIM:610898" MONDO:0012576 "MESH:C567050" MONDO:0012576 "UMLS:C1970476" +MONDO:0019271 "ICD10CM:Q82.8" MONDO:0019271 "Orphanet:79356" -MONDO:0019271 "ICD10:Q82.8" MONDO:0004243 "DOID:7491" MONDO:0004243 "NCIT:C40319" MONDO:0004243 "UMLS:C1520093" @@ -71659,7 +69877,7 @@ MONDO:0016762 "MESH:C537551" MONDO:0016762 "Orphanet:2535" MONDO:0016762 "UMLS:C2931531" MONDO:0016762 "GARD:0003636" -MONDO:0016762 "ICD10:Q15.8" +MONDO:0016762 "ICD10CM:Q15.8" HP:0001735 "UMLS:C0001339" HP:0001735 "SNOMEDCT_US:197456007" MONDO:0006141 "UMLS:C4289808" @@ -71667,8 +69885,8 @@ MONDO:0006141 "EFO:1000170" MONDO:0006141 "NCIT:C40208" MONDO:0006141 "DOID:8338" MONDO:0006141 "ONCOTREE:VGCE" +MONDO:0018336 "ICD10CM:Q87.1" MONDO:0018336 "UMLS:CN225933" -MONDO:0018336 "ICD10:Q87.1" MONDO:0018336 "Orphanet:397590" NCBITaxon:11584 "GC_ID:1" MONDO:0024888 "ICDO:9110/1" @@ -71681,7 +69899,6 @@ MONDO:0021169 "UMLS:C0205788" MONDO:0013978 "UMLS:C1824925" MONDO:0013978 "DOID:0110521" MONDO:0013978 "OMIM:614934" -MONDO:0013978 "ICD10:H90.3" MONDO:0003632 "SCTID:31354001" MONDO:0003632 "DOID:5757" MONDO:0003632 "UMLS:C0014127" @@ -71691,7 +69908,6 @@ MONDO:0001054 "SCTID:41564009" MONDO:0001054 "ICD9:372.44" MONDO:0001054 "DOID:10525" MONDO:0013180 "OMIM:613207" -MONDO:0019154 "ICD10:E34.50" MONDO:0019154 "ICD9:259.51" MONDO:0019154 "OMIM:300068" MONDO:0019154 "NCIT:C120191" @@ -71699,13 +69915,12 @@ MONDO:0019154 "MESH:D013734" MONDO:0019154 "UMLS:C0039585" MONDO:0019154 "NCIT:C27226" MONDO:0019154 "SCTID:368851000119102" +MONDO:0019154 "ICD10CM:E34.51" MONDO:0019154 "GARD:0005803" MONDO:0019154 "SCTID:12313004" MONDO:0019154 "ICD9:259.8" MONDO:0019154 "ICD9:259.5" MONDO:0019154 "MedDRA:10056292" -MONDO:0019154 "ICD10:E34.51" -MONDO:0019154 "ICD10:E34.5" MONDO:0019154 "DOID:4674" MONDO:0019154 "Orphanet:754" MONDO:0004430 "UMLS:C1513369" @@ -71724,7 +69939,7 @@ MONDO:0016378 "UMLS:C0265377" MONDO:0016378 "SCTID:765138001" MONDO:0016378 "GARD:0002856" MONDO:0016378 "Orphanet:2216" -MONDO:0016378 "ICD10:Q86.8" +MONDO:0016378 "ICD10CM:Q86.8" MONDO:0003990 "DOID:6776" MONDO:0003990 "NCIT:C40395" MONDO:0003990 "UMLS:C1518167" @@ -71750,41 +69965,27 @@ MONDO:0016565 "Orphanet:240371" MONDO:0005012 "UMLS:C0153536" MONDO:0005012 "ICD9:172.8" MONDO:0005012 "ICD9:172.4" -MONDO:0005012 "OMIM:155600" -MONDO:0005012 "OMIM:612263" -MONDO:0005012 "OMIM:613972" MONDO:0005012 "ICD9:172" -MONDO:0005012 "ICD10:C43.4" -MONDO:0005012 "OMIM:615848" MONDO:0005012 "UMLS:C0151779" MONDO:0005012 "ICD9:172.3" -MONDO:0005012 "OMIM:608035" MONDO:0005012 "NCIT:C3510" MONDO:0005012 "ONCOTREE:SKCM" MONDO:0005012 "EFO:0000389" -MONDO:0005012 "ICD10:C43" MONDO:0005012 "ICD9:172.5" -MONDO:0005012 "ICD10:C43.0" -MONDO:0005012 "OMIM:614456" MONDO:0005012 "ICD9:172.2" MONDO:0005012 "SCTID:93655004" -MONDO:0005012 "OMIM:609048" -MONDO:0005012 "UMLS:C0153535" MONDO:0005012 "ICD9:172.9" -MONDO:0005012 "OMIM:615134" -MONDO:0005012 "ICD10:C43.9" -MONDO:0005012 "DOID:8923" MONDO:0005012 "ICD9:172.0" +MONDO:0005012 "DOID:8923" +MONDO:0005012 "UMLS:C0153535" MONDO:0005012 "HP:0012056" -MONDO:0005012 "ICD10:C43.2" -MONDO:0005012 "OMIM:613099" MONDO:0008529 "OMIM:186950" -MONDO:0009603 "OMIM:250620" MONDO:0009603 "Orphanet:88639" MONDO:0009603 "GARD:0013202" MONDO:0009603 "MESH:C562803" -MONDO:0009603 "ICD10:E71.1" +MONDO:0009603 "ICD10CM:E71.1" MONDO:0009603 "SCTID:722488009" +MONDO:0009603 "OMIM:250620" HP:0001558 "SNOMEDCT_US:276369006" HP:0001558 "UMLS:C0235659" MONDO:0002503 "DOID:3076" @@ -71804,7 +70005,6 @@ MONDO:0012285 "OMIM:609470" MONDO:0012285 "UMLS:C1836118" MONDO:0009571 "OMIM:249000" MONDO:0009571 "DOID:0070115" -MONDO:0009571 "ICD10:Q61.9" MONDO:0009571 "Orphanet:564" MONDO:0009571 "UMLS:C3714506" MONDO:0009571 "MESH:C536133" @@ -71813,11 +70013,10 @@ MONDO:0009907 "SCTID:424728002" MONDO:0009907 "MESH:C563287" MONDO:0019754 "OMIM:148000" MONDO:0019754 "GARD:9644" -MONDO:0019754 "url:https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease" MONDO:0019754 "UMLS:C1334815" MONDO:0019754 "NCIT:C27855" +MONDO:0019754 "ICD10CM:D36.0" MONDO:0019754 "GARD:0009644" -MONDO:0019754 "ICD10:D36.0" MONDO:0019754 "DOID:0111152" MONDO:0019754 "Orphanet:93686" MONDO:0008844 "OMIM:209050" @@ -71827,7 +70026,6 @@ MONDO:0002913 "NCIT:C3569" MONDO:0002913 "NCIT:C2935" MONDO:0002913 "SCTID:126960003" MONDO:0002913 "UMLS:C0007762" -MONDO:0002913 "ICD10:C71.6" MONDO:0002913 "SCTID:449420002" MONDO:0002913 "ICD9:191.6" MONDO:0002913 "MESH:D002528" @@ -71835,9 +70033,9 @@ MONDO:0002913 "DOID:4205" NCBITaxon:147541 "GC_ID:1" CL:1000275 "FMA:15050" MONDO:0010039 "UMLS:C0796162" -MONDO:0010039 "ICD10:Q87.8" MONDO:0010039 "Orphanet:1355" MONDO:0010039 "GARD:0004905" +MONDO:0010039 "ICD10CM:Q87.8" MONDO:0010039 "MESH:C536680" MONDO:0010039 "SCTID:715987000" MONDO:0010039 "OMIM:270460" @@ -71845,20 +70043,16 @@ HP:0000546 "SNOMEDCT_US:95695004" HP:0000546 "MSH:D012162" HP:0000546 "UMLS:C0035304" MONDO:0001056 "ICD9:151.4" -MONDO:0001056 "ICD10:C16.9" -MONDO:0001056 "ICD10:C16.6" -MONDO:0001056 "ICD10:C16.5" MONDO:0001056 "UMLS:C0038356" MONDO:0001056 "UMLS:C0699791" MONDO:0001056 "OMIM:137215" MONDO:0001056 "ICD9:151.5" MONDO:0001056 "GARD:0007704" -MONDO:0001056 "ICD10:C16" MONDO:0001056 "DOID:10534" -MONDO:0001056 "ICD10:C16.2" MONDO:0001056 "ICD9:151.6" MONDO:0001056 "Orphanet:63443" MONDO:0001056 "ICD9:151" +MONDO:0001056 "ICD10CM:C16" MONDO:0001056 "ICD9:151.9" MONDO:0001056 "NCIT:C9331" MONDO:0001056 "MESH:D013274" @@ -71866,7 +70060,6 @@ MONDO:0001056 "OMIM:613659" MONDO:0001056 "SCTID:126824007" MONDO:0032588 "OMIM:618185" MONDO:0001232 "DOID:11232" -MONDO:0001232 "ICD10:H05.02" MONDO:0001232 "UMLS:C0155258" MONDO:0001232 "ICD9:376.03" MONDO:0001232 "SCTID:65875003" @@ -71899,8 +70092,8 @@ MONDO:0019941 "Orphanet:970" MONDO:0019941 "OMIM:201300" MONDO:0019941 "GARD:3976" MONDO:0019941 "OMIM:613115" -MONDO:0019941 "ICD10:G60.8" MONDO:0019941 "DOID:0070161" +MONDO:0019941 "ICD10CM:G60.8" MONDO:0019941 "OMIM:243000" MONDO:0019941 "SCTID:398148000" MONDO:0019941 "GARD:0003976" @@ -71922,14 +70115,14 @@ MONDO:0002497 "DOID:3044" MONDO:0002497 "MESH:D005512" MONDO:0002497 "SCTID:414285001" MONDO:0002497 "EFO:1001890" -MONDO:0018095 "ICD10:Q87.8" MONDO:0018095 "Orphanet:3448" +MONDO:0018095 "ICD10CM:Q87.8" MONDO:0018095 "UMLS:CN204431" +MONDO:0007185 "ICD10CM:Q68.1" MONDO:0007185 "MESH:C566228" MONDO:0007185 "UMLS:C1862319" MONDO:0007185 "OMIM:109300" MONDO:0007185 "Orphanet:1228" -MONDO:0007185 "ICD10:Q68.1" MONDO:0007185 "GARD:0000813" MONDO:0007185 "SCTID:733093004" MONDO:0005873 "EFO:0007393" @@ -71938,7 +70131,6 @@ MONDO:0005873 "MESH:D020953" MONDO:0005873 "DOID:13565" MONDO:0011799 "DOID:0110492" MONDO:0011799 "OMIM:607239" -MONDO:0011799 "ICD10:H90.3" MONDO:0011799 "UMLS:C1846576" MONDO:0011799 "MESH:C564602" MONDO:0001453 "UMLS:C0154857" @@ -71958,7 +70150,7 @@ MONDO:0035349 "Orphanet:595356" CL:1000454 "FMA:70982" CL:1000454 "KUPO:0001059" MONDO:0015412 "Orphanet:141234" -MONDO:0015412 "ICD10:Q18.8" +MONDO:0015412 "ICD10CM:Q18.8" MONDO:0009120 "GARD:0003401" MONDO:0009120 "MESH:C565619" MONDO:0009120 "OMIM:223330" @@ -71973,7 +70165,7 @@ MONDO:0010397 "Orphanet:209370" MONDO:0010397 "MESH:C566878" MONDO:0010397 "OMIM:300673" MONDO:0010397 "NCIT:C132293" -MONDO:0010397 "ICD10:Q02" +MONDO:0010397 "ICD10CM:Q02" MONDO:0010397 "UMLS:C1968556" MONDO:0009994 "EFO:0000248" MONDO:0009994 "ICDO:8920/3" @@ -71983,11 +70175,11 @@ MONDO:0009994 "MedDRA:10065867" MONDO:0009994 "Orphanet:780" MONDO:0009994 "Orphanet:99756" MONDO:0009994 "OMIM:268220" +MONDO:0009994 "ICD10CM:C49.9" MONDO:0009994 "SCTID:404053004" MONDO:0009994 "GARD:0004701" MONDO:0009994 "UMLS:C0206655" MONDO:0009994 "ONCOTREE:ARMS" -MONDO:0009994 "ICD10:C49.9" MONDO:0009994 "HP:0006779" MONDO:0009994 "MESH:D018232" MONDO:0009994 "NCIT:C3749" @@ -72001,8 +70193,8 @@ MONDO:0001640 "ICD9:098.53" MONDO:0001640 "SCTID:53664003" MONDO:0001640 "DOID:13127" MONDO:0001640 "UMLS:C0153219" +MONDO:0011848 "ICD10CM:G44.82" MONDO:0011848 "OMIM:607504" -MONDO:0011848 "ICD10:G44.82" MONDO:0001728 "DOID:13491" MONDO:0001728 "ICD9:386.03" MONDO:0001728 "UMLS:C0155498" @@ -72015,10 +70207,10 @@ HP:0008873 "UMLS:C1849937" MONDO:0003907 "NCIT:C39987" MONDO:0003907 "UMLS:C1518749" MONDO:0003907 "DOID:6514" -MONDO:0019533 "ICD10:D59.6" MONDO:0019533 "SCTID:127057004" MONDO:0019533 "GARD:0007335" MONDO:0019533 "Orphanet:90035" +MONDO:0019533 "ICD10CM:D59.6" MONDO:0022945 "GARD:0001701" MONDO:0006227 "NCIT:C4635" MONDO:0006227 "EFO:1000275" @@ -72029,11 +70221,11 @@ MONDO:0000969 "UMLS:C1335434" MONDO:0000969 "DOID:10195" MONDO:0017598 "MESH:D054446" MONDO:0017598 "ONCOTREE:PCALCL" +MONDO:0017598 "ICD10CM:C86.6" MONDO:0017598 "Orphanet:300865" MONDO:0017598 "NCIT:C6860" MONDO:0017598 "MedDRA:10065863" MONDO:0017598 "UMLS:C1301362" -MONDO:0017598 "ICD10:C86.6" MONDO:0004235 "EFO:1001460" MONDO:0004235 "SCTID:307496006" MONDO:0004235 "UMLS:C0012813" @@ -72048,7 +70240,6 @@ MONDO:0013158 "Orphanet:899" MONDO:0013158 "UMLS:C3150414" MONDO:0003038 "HP:0010526" MONDO:0003038 "DOID:4540" -MONDO:0003038 "ICD10:R48.8" MONDO:0005468 "EFO:0005251" MONDO:0005468 "NCIT:C3128" MONDO:0005468 "ICD9:458.9" @@ -72083,10 +70274,10 @@ MONDO:0005676 "DOID:5154" MONDO:0005676 "EFO:0007178" MONDO:0005676 "MESH:D001890" MONDO:0005676 "UMLS:C0006023" +MONDO:0020054 "ICD10CM:Q93.5" +MONDO:0020054 "ICD10CM:Q93.4" MONDO:0020054 "Orphanet:98142" -MONDO:0020054 "ICD10:Q93.4" -MONDO:0020054 "ICD10:Q93.5" -MONDO:0020054 "ICD10:Q93.3" +MONDO:0020054 "ICD10CM:Q93.3" MONDO:0044250 "OMIM:189300" MONDO:0007855 "MESH:C567190" MONDO:0007855 "UMLS:C2675099" @@ -72102,18 +70293,18 @@ MONDO:0006397 "EFO:1000508" MONDO:0006397 "ICDO:0000/0" MONDO:0006397 "UMLS:C1337036" MONDO:0006397 "ONCOTREE:TRCC" +MONDO:0017617 "ICD10CM:D84.8" MONDO:0017617 "Orphanet:306431" MONDO:0017617 "GARD:0011992" -MONDO:0017617 "ICD10:D84.8" CL:0000182 "BTO:0000575" CL:0000182 "CALOHA:TS-0454" CL:0000182 "FMA:14515" MONDO:0016402 "Orphanet:225700" MONDO:0016402 "UMLS:CN201331" MONDO:0009426 "GARD:0000411" -MONDO:0009426 "ICD10:Q87.1" MONDO:0009426 "DOID:0060348" MONDO:0009426 "UMLS:C1855840" +MONDO:0009426 "ICD10CM:Q87.1" MONDO:0009426 "OMIM:241410" MONDO:0009426 "NCIT:C133727" MONDO:0009426 "Orphanet:2323" @@ -72121,11 +70312,11 @@ MONDO:0009426 "MESH:C537157" MONDO:0013089 "UMLS:C2751663" MONDO:0013089 "DOID:0070089" MONDO:0013089 "OMIM:613025" +MONDO:0014035 "ICD10CM:G11.4" MONDO:0014035 "UMLS:C3554449" MONDO:0014035 "Orphanet:404473" MONDO:0014035 "GARD:0003505" MONDO:0014035 "DOID:0070049" -MONDO:0014035 "ICD10:G11.4" MONDO:0014035 "OMIM:615075" MONDO:0013891 "Orphanet:803" MONDO:0013891 "OMIM:614808" @@ -72137,25 +70328,24 @@ MONDO:0002718 "UMLS:C1332895" MONDO:0002718 "DOID:3640" MONDO:0002718 "Orphanet:252018" MONDO:0017280 "UMLS:C3854478" +MONDO:0017280 "ICD10CM:B88.0" MONDO:0017280 "Orphanet:283" -MONDO:0017280 "ICD10:B88.0" MONDO:0017280 "GARD:0001802" HP:0010927 "UMLS:C4023648" MONDO:0017147 "Orphanet:275766" MONDO:0017147 "ICD9:416.0" MONDO:0017147 "UMLS:CN202574" +MONDO:0017147 "ICD10CM:I27.0" MONDO:0017147 "SCTID:697898008" MONDO:0017147 "MedDRA:10065151" MONDO:0017147 "UMLS:C3203102" -MONDO:0017147 "ICD10:I27.0" MONDO:0015835 "Orphanet:180106" -MONDO:0015835 "ICD10:Q51.1" +MONDO:0015835 "ICD10CM:Q51.1" MONDO:0017804 "Orphanet:314572" MONDO:0017804 "UMLS:CN203767" MONDO:0004925 "SCTID:84627005" MONDO:0004925 "DOID:9937" MONDO:0004925 "ICD9:375.42" -MONDO:0004925 "ICD10:H04.41" MONDO:0004925 "UMLS:C0149506" MONDO:0007350 "Orphanet:194" MONDO:0007350 "Orphanet:98944" @@ -72165,11 +70355,9 @@ MONDO:0022874 "GARD:0001542" MONDO:0013276 "Orphanet:779" MONDO:0013276 "GARD:0004697" MONDO:0013276 "OMIM:613471" -MONDO:0013276 "ICD10:L94.0" MONDO:0013276 "SCTID:715401008" MONDO:0013276 "UMLS:C0748397" -MONDO:0013276 "ICD10:K74.3" -MONDO:0011964 "ICD10:E77.8" +MONDO:0011964 "ICD10CM:E77.8" MONDO:0011964 "OMIM:608093" MONDO:0011964 "NCIT:C126874" MONDO:0011964 "GARD:0009837" @@ -72182,9 +70370,9 @@ MONDO:0012910 "UMLS:C2676230" MONDO:0012910 "OMIM:612448" MONDO:0012910 "MESH:C567305" MONDO:0009597 "SCTID:254084008" +MONDO:0009597 "ICD10CM:Q78.5" MONDO:0009597 "UMLS:C0432225" MONDO:0009597 "OMIM:250400" -MONDO:0009597 "ICD10:Q78.5" MONDO:0009597 "Orphanet:2501" MONDO:0009597 "GARD:0003563" MONDO:0009597 "MESH:C537353" @@ -72192,8 +70380,8 @@ MONDO:0002192 "SCTID:402841001" MONDO:0002192 "UMLS:C1274281" MONDO:0002192 "NCIT:C8596" MONDO:0002192 "DOID:2066" +MONDO:0018588 "ICD10CM:E85.8" MONDO:0018588 "Orphanet:439224" -MONDO:0018588 "ICD10:E85.8" MONDO:0008095 "NCIT:C3943" MONDO:0008095 "HP:0025105" MONDO:0008095 "SCTID:40929003" @@ -72209,13 +70397,13 @@ MONDO:0010562 "GARD:0001446" MONDO:0010562 "MESH:C562562" MONDO:0010562 "HP:0010448" MONDO:0010562 "OMIM:303650" -MONDO:0010562 "ICD10:Q42.9" +MONDO:0010562 "ICD10CM:Q42.9" MONDO:0010562 "NCIT:C101024" MONDO:0010562 "Orphanet:1198" MONDO:0024655 "UMLS:C0264747" MONDO:0024655 "SCTID:28381002" MONDO:0007857 "UMLS:C1835663" -MONDO:0007857 "ICD10:Q82.8" +MONDO:0007857 "ICD10CM:Q82.8" MONDO:0007857 "OMIM:148520" MONDO:0007857 "Orphanet:86919" MONDO:0007857 "MESH:C563646" @@ -72223,7 +70411,7 @@ MONDO:0016018 "OMIM:601759" MONDO:0016018 "Orphanet:1926" MONDO:0016018 "SCTID:716020005" MONDO:0016018 "UMLS:C3830518" -MONDO:0016018 "ICD10:P00.4" +MONDO:0016018 "ICD10CM:P00.4" MONDO:0016018 "NCIT:C113485" MONDO:0009784 "OMIM:258470" MONDO:0009784 "MESH:C564925" @@ -72232,19 +70420,19 @@ MONDO:0006970 "DOID:12905" MONDO:0006970 "MESH:D015494" MONDO:0006970 "NCIT:C34994" MONDO:0006970 "MedDRA:10040631" -MONDO:0006970 "ICD10:K11.5" MONDO:0006970 "ICD9:527.5" +MONDO:0006970 "ICD10CM:K11.5" MONDO:0006970 "EFO:1001180" MONDO:0006970 "UMLS:C0036091" MONDO:0006970 "SCTID:28826002" MONDO:0010092 "UMLS:C0795940" MONDO:0010092 "MESH:C538152" -MONDO:0010092 "ICD10:Q87.8" +MONDO:0010092 "ICD10CM:Q87.8" MONDO:0010092 "Orphanet:3255" MONDO:0010092 "SCTID:720954000" MONDO:0010092 "OMIM:272440" MONDO:0010092 "GARD:0000062" -MONDO:0014725 "ICD10:Q02" +MONDO:0014725 "ICD10CM:Q02" MONDO:0014725 "UMLS:C4225254" MONDO:0014725 "OMIM:616657" MONDO:0014725 "Orphanet:447997" @@ -72253,24 +70441,23 @@ MONDO:0022308 "NCIT:C129069" HP:0011772 "UMLS:C4023195" MONDO:0022697 "SCTID:230780007" MONDO:0022697 "NCIT:C97169" +MONDO:0022697 "ICD10CM:G80.3" MONDO:0022697 "DOID:0050672" MONDO:0022697 "SCTID:75019001" MONDO:0022697 "GARD:0010449" -MONDO:0022697 "ICD10:G80.3" MONDO:0022697 "UMLS:C0270742" MONDO:0001484 "SCTID:31658008" MONDO:0001484 "ICD9:295.32" MONDO:0001484 "DOID:1229" +MONDO:0001484 "ICD10CM:F20.0" MONDO:0001484 "NCIT:C35006" MONDO:0001484 "ICD9:295.30" MONDO:0001484 "ICD9:295.3" MONDO:0001484 "MESH:D012563" MONDO:0001484 "ICD9:295.31" -MONDO:0001484 "ICD10:F20.0" MONDO:0018954 "UMLS:C2697932" MONDO:0018954 "Orphanet:60030" MONDO:0018954 "OMIM:614816" -MONDO:0018954 "ICD10:Q87.4" MONDO:0018954 "OMIMPS:609192" MONDO:0018954 "OMIM:610168" MONDO:0018954 "NCIT:C75006" @@ -72279,6 +70466,7 @@ MONDO:0018954 "GARD:0010788" MONDO:0018954 "MESH:D055947" MONDO:0018954 "DOID:0050466" MONDO:0018954 "OMIM:609192" +MONDO:0018954 "ICD10CM:Q87.4" MONDO:0018954 "ICD9:759.89" MONDO:0018954 "OMIM:613795" MONDO:0008718 "SCTID:763803004" @@ -72286,8 +70474,8 @@ MONDO:0008718 "GARD:0009766" MONDO:0008718 "EFO:1001897" MONDO:0008718 "Orphanet:83467" MONDO:0008718 "UMLS:C0751540" -MONDO:0008718 "ICD10:G60.8" -MONDO:0015259 "ICD10:Q87.8" +MONDO:0008718 "ICD10CM:G60.8" +MONDO:0015259 "ICD10CM:Q87.8" MONDO:0015259 "Orphanet:1277" MONDO:0015259 "GARD:0005036" MONDO:0015259 "UMLS:CN199165" @@ -72306,9 +70494,9 @@ MONDO:0013670 "UMLS:C3280346" MONDO:0013323 "Orphanet:1515" MONDO:0013323 "OMIM:613610" MONDO:0013323 "UMLS:C3150874" +MONDO:0000923 "ICD10CM:J98.2" MONDO:0000923 "ICD9:518.1" MONDO:0000923 "SCTID:77690003" -MONDO:0000923 "ICD10:J98.2" MONDO:0000923 "NCIT:C34571" MONDO:0000923 "UMLS:C1370824" MONDO:0000923 "DOID:10030" @@ -72322,24 +70510,24 @@ HP:0001931 "MSH:D000747" MONDO:0002886 "MESH:D003137" MONDO:0002886 "UMLS:C0009440" MONDO:0002886 "DOID:4137" +MONDO:0018837 "ICD10CM:I77.6" +MONDO:0018837 "UMLS:C4510302" +MONDO:0018837 "Orphanet:48435" +MONDO:0018837 "SCTID:724063005" MONDO:0015614 "NCIT:C26742" MONDO:0015614 "Orphanet:1656" MONDO:0015614 "MESH:D003874" MONDO:0015614 "OMIM:601230" MONDO:0015614 "SCTID:111196000" -MONDO:0015614 "ICD10:L13.0" +MONDO:0015614 "ICD10CM:L13.0" MONDO:0015614 "EFO:1000684" MONDO:0015614 "UMLS:C0011608" MONDO:0015614 "MedDRA:10012468" MONDO:0015614 "DOID:8505" MONDO:0015614 "ICD9:694.0" MONDO:0015614 "Wikipedia:Dermatitis_herpetiformis" -MONDO:0018837 "ICD10:I77.6" -MONDO:0018837 "UMLS:C4510302" -MONDO:0018837 "Orphanet:48435" -MONDO:0018837 "SCTID:724063005" MONDO:0000539 "DOID:0050924" -MONDO:0019388 "ICD10:Q87.8" +MONDO:0019388 "ICD10CM:Q87.8" MONDO:0019388 "Orphanet:83628" MONDO:0019388 "UMLS:CN206083" MONDO:0019388 "UMLS:C4510867" @@ -72348,15 +70536,15 @@ NCBITaxon:317865 "PMID:15766388" NCBITaxon:317865 "GC_ID:11" NCBITaxon:37987 "GC_ID:1" MONDO:0000316 "DOID:0050340" -MONDO:0020501 "NCIT:C34682" MONDO:0020501 "UMLS:C1304456" +MONDO:0020501 "MESH:D006479" MONDO:0020501 "DOID:12287" +MONDO:0020501 "NCIT:C34682" +MONDO:0020501 "ICD10CM:A98.0" +MONDO:0020501 "SCTID:402919000" +MONDO:0020501 "Orphanet:99827" MONDO:0020501 "UMLS:C0019099" -MONDO:0020501 "MESH:D006479" MONDO:0020501 "ICD9:065.0" -MONDO:0020501 "Orphanet:99827" -MONDO:0020501 "SCTID:402919000" -MONDO:0020501 "ICD10:A98.0" MONDO:0021568 "UMLS:C0151747" MONDO:0021568 "ICD9:588.89" MONDO:0021568 "SCTID:95568003" @@ -72365,13 +70553,13 @@ MONDO:0004058 "ICD9:259.3" MONDO:0004058 "NCIT:C3488" MONDO:0004058 "SCTID:39998009" MONDO:0016879 "Orphanet:261831" -MONDO:0016879 "ICD10:Q93.5" +MONDO:0016879 "ICD10CM:Q93.5" MONDO:0006258 "EFO:1000310" MONDO:0006258 "NCIT:C3826" MONDO:0006258 "UMLS:C0221273" +MONDO:0009205 "ICD10CM:Q87.8" MONDO:0009205 "MESH:C536388" MONDO:0009205 "UMLS:C0795936" -MONDO:0009205 "ICD10:Q87.8" MONDO:0009205 "SCTID:723333000" MONDO:0009205 "GARD:0002230" MONDO:0009205 "Orphanet:1973" @@ -72393,8 +70581,8 @@ MONDO:0001757 "UMLS:C0345672" MONDO:0001757 "DOID:1361" MONDO:0001757 "SCTID:126678005" MONDO:0001757 "NCIT:C4419" +MONDO:0017483 "ICD10CM:Q71.8" MONDO:0017483 "Orphanet:295063" -MONDO:0017483 "ICD10:Q71.8" MONDO:0011966 "OMIM:608097" MONDO:0011966 "Orphanet:98892" MONDO:0011966 "UMLS:C1842563" @@ -72408,7 +70596,6 @@ MONDO:0005499 "EFO:0005543" MONDO:0005499 "DOID:0060108" MONDO:0005499 "UMLS:C0349661" MONDO:0017312 "UMLS:C0685838" -MONDO:0017312 "ICD10:Q87.8" MONDO:0017312 "OMIMPS:233400" MONDO:0017312 "Orphanet:2855" MONDO:0017312 "UMLS:CN239459" @@ -72419,9 +70606,10 @@ MONDO:0017312 "DOID:0050857" MONDO:0017312 "OMIM:615300" MONDO:0017312 "OMIM:614926" MONDO:0017312 "OMIM:614129" +MONDO:0017312 "ICD10CM:Q87.8" MONDO:0017312 "OMIM:616138" +MONDO:0012912 "ICD10CM:E20.1" MONDO:0012912 "ICD9:275.49" -MONDO:0012912 "ICD10:E20.1" MONDO:0012912 "MESH:D011556" MONDO:0012912 "Orphanet:79445" MONDO:0012912 "NCIT:C129722" @@ -72433,31 +70621,29 @@ MONDO:0012912 "GARD:0007860" MONDO:0012912 "UMLS:C0033835" MONDO:0011086 "OMIM:601457" MONDO:0011086 "MESH:C563311" -MONDO:0011086 "ICD10:D81.1" MONDO:0011086 "UMLS:C1832322" MONDO:0011086 "Orphanet:331206" MONDO:0011086 "DOID:0090013" MONDO:0011086 "GARD:0010339" +MONDO:0011086 "ICD10CM:D81.1" NCBITaxon:137 "PMID:23908650" NCBITaxon:137 "GC_ID:11" MONDO:0016207 "SCTID:410494003" MONDO:0016207 "Orphanet:209959" MONDO:0016207 "UMLS:C1444621" -MONDO:0016207 "ICD10:H20.2" MONDO:0015491 "Orphanet:156149" MONDO:0012481 "Orphanet:29" MONDO:0012481 "MedDRA:10072219" MONDO:0012481 "NCIT:C84890" MONDO:0012481 "DOID:0050452" MONDO:0012481 "UMLS:C0398691" +MONDO:0012481 "ICD10CM:E88.8" MONDO:0012481 "OMIM:610377" MONDO:0012481 "GARD:0003588" -MONDO:0012481 "ICD10:E88.8" MONDO:0012481 "UMLS:C1959626" MONDO:0012481 "SCTID:718558008" MONDO:0002361 "ICD9:153.1" MONDO:0002361 "DOID:261" -MONDO:0002361 "ICD10:C18.4" MONDO:0002361 "UMLS:C0153434" MONDO:0002361 "SCTID:363408006" MONDO:0019950 "EFO:0006819" @@ -72469,25 +70655,23 @@ MONDO:0019950 "Orphanet:97242" MONDO:0019950 "UMLS:C0026850" MONDO:0019950 "GARD:0009138" MONDO:0019950 "OMIM:254100" -MONDO:0019950 "ICD10:G71.2" +MONDO:0019950 "ICD10CM:G71.2" MONDO:0005507 "ICD9:143" MONDO:0005507 "DOID:8602" MONDO:0005507 "SCTID:363382005" MONDO:0005507 "NCIT:C9317" MONDO:0005507 "ICD9:143.8" -MONDO:0005507 "ICD10:C03" -MONDO:0005507 "ICD10:C03.9" MONDO:0005507 "MedDRA:10067807" MONDO:0005507 "EFO:0005557" MONDO:0005507 "UMLS:C0153364" MONDO:0005507 "ICD9:143.9" -MONDO:0017670 "ICD10:Q82.8" MONDO:0017670 "UMLS:CN229100" +MONDO:0017670 "ICD10CM:Q82.8" MONDO:0017670 "Orphanet:307773" MONDO:0008688 "UMLS:C1327917" MONDO:0008688 "SCTID:719019000" MONDO:0008688 "Orphanet:3466" -MONDO:0008688 "ICD10:D61.0" +MONDO:0008688 "ICD10CM:D61.0" MONDO:0008688 "MESH:C536751" MONDO:0008688 "GARD:0000039" MONDO:0008688 "OMIM:194350" @@ -72513,8 +70697,6 @@ MONDO:0014660 "Orphanet:2512" MONDO:0014660 "UMLS:C4225310" MONDO:0014660 "DOID:0070277" MONDO:0017648 "Orphanet:306731" -MONDO:0017648 "ICD10:I02.0" -MONDO:0017648 "ICD10:I02.9" MONDO:0017648 "MedDRA:10042732" MONDO:0017648 "GARD:0007716" NCBITaxon:6210 "PMID:12377596" @@ -72544,10 +70726,10 @@ HP:0010980 "UMLS:C0020476" MONDO:0022020 "GARD:0000945" MONDO:0022020 "MESH:C537939" MONDO:0022020 "UMLS:C2931668" -MONDO:0021464 "ICD10:D12.0" MONDO:0021464 "UMLS:C0496859" MONDO:0021464 "NCIT:C4772" MONDO:0021464 "SCTID:92040001" +MONDO:0021464 "ICD10CM:D12.0" MONDO:0042908 "GARD:0000248" MONDO:0004105 "NCIT:C8095" MONDO:0004105 "DOID:7095" @@ -72569,12 +70751,11 @@ MONDO:0009292 "OMIM:232500" MONDO:0009292 "GARD:0002520" MONDO:0009292 "UMLS:C1856303" MONDO:0009292 "Orphanet:367" -MONDO:0009292 "ICD10:E74.0" MONDO:0009292 "DOID:2750" MONDO:0009292 "OMIM:263570" -MONDO:0009292 "ICD10:E74.09" MONDO:0009292 "ICD9:277.6" MONDO:0009292 "UMLS:C1856305" +MONDO:0009292 "ICD10CM:E74.0" MONDO:0009292 "SCTID:124267007" MONDO:0009292 "UMLS:C1856304" MONDO:0006948 "SCTID:232035005" @@ -72586,7 +70767,7 @@ MONDO:0006948 "NCIT:C34978" MONDO:0006948 "UMLS:C0035302" MONDO:0008875 "GARD:0000905" MONDO:0008875 "SCTID:717914000" -MONDO:0008875 "ICD10:Q87.8" +MONDO:0008875 "ICD10CM:Q87.8" MONDO:0008875 "Orphanet:2057" MONDO:0008875 "OMIM:210745" MONDO:0008875 "MESH:C536235" @@ -72594,14 +70775,14 @@ MONDO:0011144 "GARD:0001224" MONDO:0011144 "Orphanet:228363" MONDO:0011144 "MESH:C566627" MONDO:0011144 "OMIM:601780" -MONDO:0011144 "ICD10:E75.4" +MONDO:0011144 "ICD10CM:E75.4" MONDO:0011144 "Orphanet:168491" MONDO:0011144 "Orphanet:79262" MONDO:0011144 "DOID:0110729" MONDO:0008187 "OMIM:167870" MONDO:0034104 "Orphanet:544488" NCBITaxon:2082224 "GC_ID:1" -MONDO:0018252 "ICD10:Q82.8" +MONDO:0018252 "ICD10CM:Q82.8" MONDO:0018252 "UMLS:CN204827" MONDO:0018252 "Orphanet:370002" MONDO:0018252 "OMIM:148700" @@ -72618,10 +70799,10 @@ MONDO:0013715 "OMIM:614373" MONDO:0013715 "UMLS:C3280587" MONDO:0013715 "Orphanet:300605" MONDO:0013715 "DOID:0060207" +MONDO:0007552 "ICD10CM:Q81.2" MONDO:0007552 "ICD9:757.39" MONDO:0007552 "MESH:C535494" MONDO:0007552 "GARD:0002155" -MONDO:0007552 "ICD10:Q81.2" MONDO:0007552 "Orphanet:79410" MONDO:0007552 "OMIM:131850" MONDO:0007552 "SCTID:67653003" @@ -72635,8 +70816,8 @@ MONDO:0011331 "GARD:0010156" MONDO:0011331 "Orphanet:264688" MONDO:0011331 "ICD9:511.89" MONDO:0011331 "UMLS:C0340014" +MONDO:0011331 "ICD10CM:I89.8" MONDO:0011331 "DOID:0060646" -MONDO:0011331 "ICD10:I89.8" MONDO:0011331 "SCTID:233646003" MONDO:0018135 "OMIM:203100" MONDO:0018135 "OMIM:606952" @@ -72644,8 +70825,7 @@ MONDO:0018135 "SCTID:765146000" MONDO:0018135 "Orphanet:352731" MONDO:0018135 "GARD:0004037" MONDO:0018135 "UMLS:CN119529" -MONDO:0018135 "ICD10:E70.3" -MONDO:0005865 "ICD10:J67.5" +MONDO:0018135 "ICD10CM:E70.3" MONDO:0005865 "UMLS:C0155889" MONDO:0005865 "SCTID:52333004" MONDO:0005865 "ICD9:495.5" @@ -72656,20 +70836,20 @@ HP:0004303 "UMLS:C4021663" MONDO:0013987 "UMLS:C3554182" MONDO:0013987 "SCTID:763203009" MONDO:0013987 "OMIM:614947" -MONDO:0013987 "ICD10:G31.8" +MONDO:0013987 "ICD10CM:G31.8" MONDO:0013987 "Orphanet:319524" MONDO:0013987 "DOID:0111491" MONDO:0012733 "UMLS:C3888198" MONDO:0012733 "DOID:0050662" MONDO:0012733 "OMIM:611809" MONDO:0012733 "Orphanet:139455" +MONDO:0012733 "ICD10CM:H35.5" MONDO:0012733 "SCTID:723828008" MONDO:0012733 "MESH:C567518" -MONDO:0012733 "ICD10:H35.5" MONDO:0012733 "UMLS:C2678493" -MONDO:0020503 "ICD10:E03.1" MONDO:0020503 "Orphanet:99832" MONDO:0020503 "UMLS:CN207394" +MONDO:0020503 "ICD10CM:E03.1" MONDO:0020503 "SCTID:725462002" HP:0030163 "UMLS:C4022603" MONDO:0016353 "MESH:C538358" @@ -72696,7 +70876,7 @@ MONDO:0008467 "GARD:0004969" MONDO:0008467 "OMIM:183802" MONDO:0008467 "Orphanet:2437" MONDO:0008467 "MESH:C566662" -MONDO:0008467 "ICD10:Q87.8" +MONDO:0008467 "ICD10CM:Q87.8" MONDO:0030314 "OMIM:619398" MONDO:0006423 "UMLS:C1275277" MONDO:0006423 "EFO:1000540" @@ -72708,7 +70888,6 @@ MONDO:0007981 "OMIM:156310" MONDO:0007981 "MESH:C563587" MONDO:0007981 "UMLS:C1835007" MONDO:0010775 "UMLS:C1568248" -MONDO:0010775 "ICD10:H35.5" MONDO:0010775 "DOID:0110829" MONDO:0010775 "Orphanet:231183" MONDO:0010775 "OMIM:500004" @@ -72722,8 +70901,7 @@ MONDO:0014591 "OMIM:616331" MONDO:0014591 "Orphanet:3107" MONDO:0014591 "DOID:0060765" MONDO:0014591 "Orphanet:97360" -MONDO:0014591 "ICD10:Q87.1" -MONDO:0010951 "ICD10:I42.0" +MONDO:0010951 "ICD10CM:I42.0" MONDO:0010951 "OMIM:600884" MONDO:0010951 "UMLS:C0340427" MONDO:0010951 "DOID:0110443" @@ -72734,9 +70912,9 @@ HP:0011974 "UMLS:C0026987" MONDO:0032751 "OMIM:618436" MONDO:0032751 "DOID:0111602" MONDO:0019083 "OMIM:256000" +MONDO:0019083 "ICD10CM:G31.8" MONDO:0019083 "Orphanet:70474" MONDO:0019083 "UMLS:CN205578" -MONDO:0019083 "ICD10:G31.8" MONDO:0033619 "OMIM:619036" MONDO:0009071 "GARD:0009496" MONDO:0009071 "OMIM:612076" @@ -72749,6 +70927,7 @@ MONDO:0009071 "OMIM:307830" MONDO:0009071 "MESH:C537757" MONDO:0016574 "Orphanet:2435" MONDO:0016574 "GARD:0003347" +MONDO:0016574 "OMIM:154000" MONDO:0016574 "SCTID:733469003" MONDO:0016574 "UMLS:C1835172" MONDO:0016574 "MESH:C537836" @@ -72758,63 +70937,57 @@ MONDO:0001922 "DOID:1425" MONDO:0001922 "NCIT:C35666" MONDO:0001922 "SCTID:85884009" MONDO:0017520 "Orphanet:295138" -MONDO:0017520 "ICD10:Q73.8" +MONDO:0017520 "ICD10CM:Q73.8" MONDO:0017520 "UMLS:CN203253" MONDO:0017085 "Orphanet:268843" -MONDO:0015469 "SCTID:57219006" -MONDO:0015469 "OMIM:600593" -MONDO:0015469 "OMIM:182212" -MONDO:0015469 "MedDRA:10049889" -MONDO:0015469 "MESH:D003398" -MONDO:0015469 "DOID:2340" -MONDO:0015469 "OMIM:604757" -MONDO:0015469 "GARD:0006209" MONDO:0015469 "MedDRA:10048907" MONDO:0015469 "OMIM:600775" -MONDO:0015469 "ICD10:Q75.0" -MONDO:0015469 "UMLS:C0010278" -MONDO:0015469 "Orphanet:1531" -MONDO:0015469 "OMIM:123100" +MONDO:0015469 "SCTID:57219006" MONDO:0015469 "OMIM:615314" +MONDO:0015469 "MedDRA:10049889" MONDO:0015469 "OMIMPS:123100" +MONDO:0015469 "OMIM:604757" MONDO:0015469 "OMIM:615529" +MONDO:0015469 "UMLS:C0010278" +MONDO:0015469 "DOID:2340" +MONDO:0015469 "OMIM:600593" MONDO:0015469 "NCIT:C84655" +MONDO:0015469 "GARD:0006209" +MONDO:0015469 "OMIM:182212" +MONDO:0015469 "MESH:D003398" +MONDO:0015469 "ICD10CM:Q75.0" +MONDO:0015469 "Orphanet:1531" +MONDO:0015469 "OMIM:123100" MONDO:0009049 "UMLS:CN200644" MONDO:0009049 "GARD:0010824" MONDO:0009049 "SCTID:720459002" -MONDO:0009049 "ICD10:E24.8" MONDO:0009049 "OMIM:219080" MONDO:0009049 "Orphanet:189427" MONDO:0009049 "OMIM:615954" MONDO:0009049 "UMLS:C2062388" +MONDO:0009049 "ICD10CM:E24.8" MONDO:0009049 "MESH:C565662" MONDO:0005509 "DOID:4231" MONDO:0005509 "EFO:0005561" -MONDO:0005509 "SCTID_2010_1_31:128741006" MONDO:0005509 "ICDO:8831/0" MONDO:0005509 "MESH:D051642" -MONDO:0005509 "SCTID_2010_1_31:72079004" -MONDO:0005509 "UMLS:C1509147" MONDO:0005509 "OMIM:612160" -MONDO:0005509 "SCTID_2010_1_31:189773000" -MONDO:0005509 "SCTID_2010_1_31:154614002" +MONDO:0005509 "UMLS:C1509147" MONDO:0005509 "NCIT:C35765" -MONDO:0005509 "SCTID_2010_1_31:302843004" MONDO:0007709 "Orphanet:97562" MONDO:0007709 "OMIM:141200" MONDO:0007709 "DOID:0111365" MONDO:0007709 "MESH:C562476" MONDO:0010146 "Orphanet:499" MONDO:0010146 "OMIM:275240" +MONDO:0010146 "ICD10CM:B35.0" MONDO:0010146 "SCTID:19087001" MONDO:0010146 "GARD:0003109" MONDO:0010146 "UMLS:C0276742" -MONDO:0010146 "ICD10:B35.0" MONDO:0020211 "UMLS:CN227821" MONDO:0020211 "Orphanet:98623" MONDO:0022337 "GARD:0005765" MONDO:0016761 "GARD:0007687" -MONDO:0016761 "ICD10:Q77.7" MONDO:0016761 "ICD9:756.9" MONDO:0016761 "Orphanet:252" MONDO:0016761 "SCTID:254062008" @@ -72841,9 +71014,9 @@ MONDO:0024518 "ICD9:286.9" MONDO:0024518 "UMLS:C0457506" MONDO:0024518 "SCTID:234500001" HP:0010919 "UMLS:C4023651" +MONDO:0017156 "ICD10CM:I27.2" MONDO:0017156 "Orphanet:275828" MONDO:0017156 "EFO:0009195" -MONDO:0017156 "ICD10:I27.2" MONDO:0017156 "SCTID:697908003" MONDO:0017156 "ICD9:416.8" MONDO:0017156 "UMLS:C3698315" @@ -72851,14 +71024,12 @@ MONDO:0018102 "Orphanet:34533" MONDO:0018102 "MESH:D003317" MONDO:0018102 "NCIT:C34513" MONDO:0018102 "ICD9:371.50" -MONDO:0018102 "ICD10:H18.50" MONDO:0018102 "MedDRA:10011005" MONDO:0018102 "DOID:2566" MONDO:0018102 "HP:0001131" MONDO:0018102 "UMLS:C0010036" MONDO:0018102 "ICD9:371.5" MONDO:0018102 "SCTID:5587004" -MONDO:0018102 "ICD10:H18.5" MONDO:0017813 "OMIM:601390" MONDO:0017813 "OMIM:615546" MONDO:0017813 "Orphanet:314679" @@ -72867,7 +71038,6 @@ MONDO:0017813 "DOID:0060238" MONDO:0017813 "OMIMPS:601390" MONDO:0017813 "UMLS:CN203783" MONDO:0011587 "Orphanet:98985" -MONDO:0011587 "ICD10:Q12.0" MONDO:0011587 "DOID:0110254" MONDO:0011587 "MESH:C565301" MONDO:0011587 "OMIM:605728" @@ -72877,12 +71047,12 @@ CL:1001319 "KUPO:0001120" MONDO:0010367 "Orphanet:314795" MONDO:0010367 "MESH:C564479" MONDO:0010367 "EFO:0008989" -MONDO:0010367 "ICD10:Q87.1" MONDO:0010367 "SCTID:763868006" +MONDO:0010367 "ICD10CM:Q87.1" MONDO:0010367 "OMIM:300582" MONDO:0100231 "OMIM:607507" MONDO:0020432 "Orphanet:99101" -MONDO:0020432 "ICD10:Q20.8" +MONDO:0020432 "ICD10CM:Q20.8" MONDO:0033366 "DOID:0080284" MONDO:0033366 "UMLS:CN633295" MONDO:0033366 "OMIM:617771" @@ -72906,17 +71076,16 @@ MONDO:0012191 "SCTID:764962002" MONDO:0012191 "UMLS:C1836797" MONDO:0012191 "NCIT:C125663" MONDO:0012191 "Orphanet:137681" -MONDO:0012191 "ICD10:E88.8" MONDO:0012191 "DOID:0111474" MONDO:0012191 "MESH:C563797" MONDO:0012191 "OMIM:609060" +MONDO:0012191 "ICD10CM:E88.8" MONDO:0001252 "SCTID:57777000" MONDO:0001252 "DOID:11277" MONDO:0001252 "EFO:0009191" MONDO:0001252 "ICD9:242.30" MONDO:0001252 "NCIT:C35171" MONDO:0001252 "UMLS:C0342127" -MONDO:0001252 "ICD10:E05.2" MONDO:0001252 "ICD9:242.3" MONDO:0007155 "MESH:C566253" MONDO:0007155 "OMIM:108050" @@ -72927,7 +71096,6 @@ MONDO:0002184 "SCTID:235889003" MONDO:0004769 "SCTID:80698001" MONDO:0004769 "DOID:9369" MONDO:0004769 "MESH:D016727" -MONDO:0004769 "ICD10:H05.11" MONDO:0004769 "SCTID:72789009" MONDO:0004769 "NCIT:C117296" MONDO:0004769 "ICD9:376.12" @@ -72938,33 +71106,33 @@ MONDO:0000872 "UMLS:C0279584" MONDO:0000872 "EFO:1001946" MONDO:0000872 "NCIT:C9140" MONDO:0005715 "ICD9:771.2" +MONDO:0005715 "ICD10CM:P37.1" MONDO:0005715 "EFO:0007220" MONDO:0005715 "SCTID:73893000" MONDO:0005715 "Orphanet:858" -MONDO:0005715 "ICD10:P37.1" MONDO:0005715 "MESH:D014125" MONDO:0005715 "GARD:0010326" MONDO:0005715 "DOID:13336" MONDO:0005715 "NCIT:C50503" MONDO:0005715 "MedDRA:10010652" MONDO:0005715 "UMLS:C0040560" +MONDO:0024382 "ICD10CM:G47.26" MONDO:0024382 "SCTID:713498009" -MONDO:0024382 "ICD10:G47.26" MONDO:0025713 "OMIM:619366" MONDO:0009457 "OMIM:242890" NCBITaxon:43738 "GC_ID:1" MONDO:0007413 "OMIM:123853" -MONDO:0007413 "ICD10:Q87.8" MONDO:0007413 "SCTID:732261005" MONDO:0007413 "MESH:C536229" MONDO:0007413 "GARD:0009487" MONDO:0007413 "Orphanet:2674" +MONDO:0007413 "ICD10CM:Q87.8" MONDO:0007413 "UMLS:C1852396" MONDO:0010554 "GARD:0000360" MONDO:0010554 "OMIM:302905" +MONDO:0010554 "ICD10CM:Q87.8" MONDO:0010554 "Orphanet:921" MONDO:0010554 "SCTID:718574003" -MONDO:0010554 "ICD10:Q87.8" MONDO:0010554 "UMLS:C1844862" MONDO:0010554 "MESH:C535559" MONDO:0054551 "OMIM:617383" @@ -72974,11 +71142,11 @@ MONDO:0009793 "OMIM:258850" MONDO:0009793 "Orphanet:2752" MONDO:0009793 "DOID:0060373" MONDO:0009793 "GARD:0010518" -MONDO:0009793 "ICD10:Q87.0" +MONDO:0009793 "ICD10CM:Q87.0" MONDO:0014348 "OMIM:615802" MONDO:0014348 "UMLS:C4014343" MONDO:0005373 "ICD9:036.89" -MONDO:0005373 "ICD10:A39" +MONDO:0005373 "ICD10CM:A39" MONDO:0005373 "GARD:0007169" MONDO:0005373 "ICD9:036.9" MONDO:0005373 "MESH:D008589" @@ -72994,7 +71162,6 @@ MONDO:0004956 "ICD9:199.1" MONDO:0002912 "ICD9:191.7" MONDO:0002912 "MESH:D020295" MONDO:0002912 "GARD:0008244" -MONDO:0002912 "ICD10:C71.7" MONDO:0002912 "DOID:4203" MONDO:0002912 "UMLS:C1332192" MONDO:0002912 "SCTID:363473003" @@ -73013,29 +71180,29 @@ MONDO:0011995 "OMIM:608227" MONDO:0010603 "UMLS:C1844137" MONDO:0010603 "OMIM:306800" MONDO:0010603 "MESH:C564415" -MONDO:0016763 "ICD10:Q77.8" MONDO:0016763 "Orphanet:254" +MONDO:0016763 "ICD10CM:Q77.8" MONDO:0016763 "OMIMPS:184255" MONDO:0019332 "OMIM:614936" MONDO:0019332 "OMIM:148600" MONDO:0019332 "Orphanet:79501" MONDO:0019332 "GARD:0003103" MONDO:0019332 "UMLS:CN205995" -MONDO:0019332 "ICD10:Q82.8" +MONDO:0019332 "ICD10CM:Q82.8" MONDO:0019332 "SCTID:717184007" -MONDO:0008727 "ICD10:E25.0" MONDO:0008727 "Orphanet:418" -MONDO:0008727 "GARD:0009152" -MONDO:0008727 "NCIT:C131088" MONDO:0008727 "Orphanet:90791" MONDO:0008727 "OMIM:201810" -MONDO:0008727 "SCTID:54470008" +MONDO:0008727 "ICD10CM:E25.0" MONDO:0008727 "MESH:C538236" +MONDO:0008727 "NCIT:C131088" +MONDO:0008727 "SCTID:54470008" +MONDO:0008727 "GARD:0009152" MONDO:0024499 "NCIT:C6478" MONDO:0024499 "UMLS:C1336946" MONDO:0011136 "UMLS:C1866423" -MONDO:0011136 "ICD10:D69.1" MONDO:0011136 "GARD:0008345" +MONDO:0011136 "ICD10CM:D69.1" MONDO:0011136 "OMIM:601709" MONDO:0011136 "DOID:0111050" MONDO:0011136 "Orphanet:220436" @@ -73051,7 +71218,6 @@ MONDO:0003633 "DOID:5758" MONDO:0001055 "DOID:10526" MONDO:0005560 "ICD9:348.30" MONDO:0005560 "MESH:D001927" -MONDO:0005560 "ICD10:G93.9" MONDO:0005560 "EFO:0005774" MONDO:0005560 "ICD9:348.9" MONDO:0005560 "DOID:936" @@ -73060,7 +71226,6 @@ MONDO:0005560 "SCTID:81308009" MONDO:0005560 "UMLS:C0006111" MONDO:0005560 "UMLS:C0085584" MONDO:0005560 "NCIT:C96413" -MONDO:0005560 "ICD10:G93.40" MONDO:0005560 "ICD9:348.8" MONDO:0007760 "MESH:C564170" MONDO:0007760 "UMLS:C1840425" @@ -73068,7 +71233,6 @@ MONDO:0007760 "OMIM:144300" MONDO:0014569 "Orphanet:2680" MONDO:0014569 "UMLS:C4225386" MONDO:0014569 "OMIM:616286" -MONDO:0013315 "ICD10:H35.5" MONDO:0013315 "DOID:0110407" MONDO:0013315 "Orphanet:791" MONDO:0013315 "OMIM:613582" @@ -73082,9 +71246,9 @@ MONDO:0010219 "MESH:C564730" MONDO:0021287 "UMLS:C0347103" MONDO:0021287 "SCTID:92584005" MONDO:0021287 "NCIT:C4592" -MONDO:0001924 "ICD9:362.76" -MONDO:0001924 "ICD10:H35.54" +MONDO:0001924 "ICD10CM:H35.54" MONDO:0001924 "DOID:14252" +MONDO:0001924 "ICD9:362.76" MONDO:0008914 "GARD:0008519" MONDO:0008914 "UMLS:C1859329" MONDO:0008914 "OMIM:212100" @@ -73102,26 +71266,25 @@ MONDO:0030978 "OMIM:619217" MONDO:0014756 "DOID:0111432" MONDO:0014756 "OMIM:616736" MONDO:0014756 "UMLS:C4225223" -MONDO:0018337 "Orphanet:397593" MONDO:0018337 "OMIM:615595" -MONDO:0018337 "ICD10:E88.8" +MONDO:0018337 "Orphanet:397593" +MONDO:0018337 "ICD10CM:E88.8" MONDO:0008131 "UMLS:C1833831" MONDO:0008131 "Orphanet:1215" MONDO:0008131 "MESH:C563497" MONDO:0008131 "OMIM:165199" MONDO:0015634 "OMIM:166700" +MONDO:0015634 "ICD10CM:Q78.8" MONDO:0015634 "Orphanet:166119" -MONDO:0015634 "ICD10:Q78.8" MONDO:0010406 "OMIM:300705" MONDO:0010406 "Orphanet:777" NCBITaxon:129726 "GC_ID:1" MONDO:0015810 "Orphanet:178522" -MONDO:0015810 "ICD10:C84.4" +MONDO:0015810 "ICD10CM:C84.4" HP:0000274 "UMLS:C1855538" MONDO:0013181 "MESH:C567706" MONDO:0013181 "Orphanet:100033" MONDO:0013181 "DOID:0110061" -MONDO:0013181 "ICD10:K00.5" MONDO:0013181 "OMIM:613211" MONDO:0013181 "UMLS:C2750771" MONDO:0020684 "OMIM:130080" @@ -73137,7 +71300,6 @@ MONDO:0004431 "MESH:D006395" MONDO:0004431 "ICD9:719.10" MONDO:0004431 "ICD9:719.1" MONDO:0004431 "EFO:1001344" -MONDO:0004431 "ICD10:M25.0" MONDO:0033262 "UMLS:CN388854" MONDO:0033262 "OMIM:617609" MONDO:0033262 "DOID:0080271" @@ -73153,7 +71315,6 @@ MONDO:0016379 "Orphanet:222" MONDO:0016379 "UMLS:C0406464" MONDO:0016379 "GARD:0002188" MONDO:0015164 "Orphanet:102379" -MONDO:0015164 "ICD10:C92.8" MONDO:0015164 "UMLS:CN197504" MONDO:0012286 "OMIM:609500" MONDO:0012286 "UMLS:C2931230" @@ -73165,7 +71326,9 @@ MONDO:0019755 "UMLS:CN206687" MONDO:0019755 "SCTID:400038003" MONDO:0019755 "UMLS:C1302790" MONDO:0019755 "NCIT:C99267" +MONDO:0019755 "ICD10CM:Q80-Q89" MONDO:0019755 "Orphanet:93890" +MONDO:0019755 "ICD10CM:Q00-Q99" MONDO:0003991 "NCIT:C27846" MONDO:0003991 "DOID:6777" MONDO:0003991 "UMLS:C1336962" @@ -73181,10 +71344,10 @@ MONDO:0005152 "Orphanet:95494" MONDO:0005152 "GARD:0002917" MONDO:0005152 "EFO:0001380" MONDO:0005152 "NCIT:C62591" +MONDO:0005152 "ICD10CM:E23.0" MONDO:0005152 "SCTID:74728003" MONDO:0005152 "OMIM:262700" MONDO:0005152 "OMIM:613038" -MONDO:0005152 "ICD10:E23.0" MONDO:0005152 "OMIM:613986" MONDO:0005152 "OMIM:221750" MONDO:0018558 "Orphanet:434809" @@ -73194,15 +71357,15 @@ MONDO:0007005 "SCTID:52506002" MONDO:0007005 "ICD9:556.3" MONDO:0007005 "EFO:1001223" MONDO:0014044 "Orphanet:289553" +MONDO:0014044 "ICD10CM:Q87.8" MONDO:0014044 "SCTID:763279007" MONDO:0014044 "OMIM:615102" MONDO:0014044 "UMLS:C3554774" -MONDO:0014044 "ICD10:Q87.8" MONDO:0016566 "SCTID:44250009" MONDO:0016566 "GARD:0003283" -MONDO:0016566 "UMLS:C0023968" +MONDO:0016566 "ICD10CM:B74.3" MONDO:0016566 "DOID:13523" -MONDO:0016566 "ICD10:B74.3" +MONDO:0016566 "UMLS:C0023968" MONDO:0016566 "NCIT:C34784" MONDO:0016566 "EFO:1000729" MONDO:0016566 "MESH:D008118" @@ -73216,29 +71379,29 @@ MONDO:0054846 "UMLS:CN252655" MONDO:0054846 "OMIM:618074" MONDO:0054846 "DOID:0111696" MONDO:0019942 "Orphanet:1147" -MONDO:0019942 "ICD10:Q68.8" MONDO:0019942 "GARD:0000786" MONDO:0019942 "DOID:0050646" MONDO:0019942 "Orphanet:97120" MONDO:0019942 "SCTID:24269006" +MONDO:0019942 "ICD10CM:Q68.8" MONDO:0019942 "OMIMPS:108120" MONDO:0014630 "OMIM:616415" MONDO:0014630 "UMLS:C4225157" MONDO:0014630 "Orphanet:454840" -MONDO:0014630 "ICD10:D12.6" +MONDO:0014630 "ICD10CM:D12.6" MONDO:0012052 "UMLS:C2931005" +MONDO:0012052 "ICD10CM:E77.8" MONDO:0012052 "OMIM:608540" MONDO:0012052 "MESH:C535749" -MONDO:0012052 "ICD10:E77.8" MONDO:0012052 "DOID:0080563" MONDO:0012052 "SCTID:720941007" MONDO:0012052 "Orphanet:79327" MONDO:0012052 "GARD:0009838" -MONDO:0018745 "ICD10:L10.2" +MONDO:0018745 "ICD10CM:L10.2" MONDO:0018745 "UMLS:CN227541" -MONDO:0018745 "ICD10:L10.4" +MONDO:0018745 "ICD10CM:L10.4" +MONDO:0018745 "ICD10CM:L10.3" MONDO:0018745 "Orphanet:46485" -MONDO:0018745 "ICD10:L10.3" MONDO:0000733 "HP:0007720" MONDO:0000733 "OMIM:217300" MONDO:0000733 "OMIMPS:121400" @@ -73246,7 +71409,6 @@ MONDO:0000733 "OMIM:121400" MONDO:0000733 "Orphanet:53691" MONDO:0000733 "SCTID:204145006" MONDO:0000733 "DOID:0060287" -MONDO:0000733 "ICD10:Q13.4" MONDO:0013285 "Orphanet:1572" MONDO:0013285 "UMLS:C3150740" MONDO:0013285 "OMIM:613495" @@ -73254,15 +71416,14 @@ HP:0001324 "UMLS:C0151786" HP:0001324 "SNOMEDCT_US:26544005" HP:0001324 "MSH:D018908" MONDO:0014231 "Orphanet:391411" -MONDO:0014231 "ICD10:G20" MONDO:0014231 "OMIM:615528" MONDO:0014231 "UMLS:C3809811" MONDO:0014231 "DOID:0060891" MONDO:0009908 "OMIM:264070" -MONDO:0009908 "ICD10:E70.1" -MONDO:0009908 "GARD:0002843" MONDO:0009908 "SCTID:124646004" +MONDO:0009908 "GARD:0002843" MONDO:0009908 "ICD9:277.6" +MONDO:0009908 "ICD10CM:E70.1" MONDO:0009908 "Orphanet:1578" MONDO:0009908 "Orphanet:238583" MONDO:0009908 "MESH:C538382" @@ -73277,19 +71438,18 @@ MONDO:0004433 "DOID:8013" MONDO:0004433 "UMLS:C1335322" MONDO:0004433 "NCIT:C6983" MONDO:0008610 "OMIM:190900" +MONDO:0008610 "ICD10CM:H53.5" MONDO:0008610 "Orphanet:88629" -MONDO:0008610 "ICD10:H53.55" MONDO:0008610 "ICD9:368.53" MONDO:0008610 "UMLS:C0155017" MONDO:0008610 "SCTID:51886007" MONDO:0008610 "DOID:11661" -MONDO:0008610 "ICD10:H53.5" -MONDO:0009121 "ICD10:Q87.8" MONDO:0009121 "GARD:0001894" MONDO:0009121 "Orphanet:3439" MONDO:0009121 "UMLS:C1857226" MONDO:0009121 "MESH:C565618" MONDO:0009121 "OMIM:223340" +MONDO:0009121 "ICD10CM:Q87.8" MONDO:0009121 "SCTID:719021005" MONDO:0003236 "NCIT:C6895" MONDO:0003236 "UMLS:C1300347" @@ -73298,15 +71458,14 @@ MONDO:0023581 "UMLS:C2931741" MONDO:0023581 "MESH:C538126" MONDO:0023581 "GARD:0003152" MONDO:0010398 "Orphanet:776" -MONDO:0010398 "ICD10:Q87.8" MONDO:0010398 "UMLS:C1970822" MONDO:0010398 "OMIM:300676" MONDO:0010398 "DOID:0060821" MONDO:0010398 "MESH:C567063" MONDO:0016800 "UMLS:CN227001" MONDO:0016800 "Orphanet:254827" -MONDO:0020463 "ICD10:Q10.1" MONDO:0020463 "Orphanet:99171" +MONDO:0020463 "ICD10CM:Q10.1" MONDO:0021505 "UMLS:C0347254" MONDO:0021505 "SCTID:92083007" MONDO:0021505 "NCIT:C4608" @@ -73314,15 +71473,14 @@ MONDO:0005538 "NCIT:C38011" MONDO:0005538 "MESH:D011349" MONDO:0005538 "UMLS:C0033246" MONDO:0005538 "ICD9:569.49" -MONDO:0005538 "ICD10:K62.89" MONDO:0005538 "SCTID:3951002" MONDO:0005538 "DOID:3127" MONDO:0005538 "EFO:0005628" MONDO:0011301 "MESH:C548075" +MONDO:0011301 "ICD10CM:E20.1" MONDO:0011301 "UMLS:C2932715" MONDO:0011301 "DOID:0080222" MONDO:0011301 "GARD:0010680" -MONDO:0011301 "ICD10:E20.1" MONDO:0011301 "OMIM:603233" MONDO:0011301 "Orphanet:94089" MONDO:0006612 "DOID:3925" @@ -73339,8 +71497,8 @@ MONDO:0013501 "Orphanet:275872" MONDO:0013501 "UMLS:C3151403" MONDO:0020308 "UMLS:CN207128" MONDO:0020308 "Orphanet:98816" -MONDO:0020308 "ICD10:G40.0" -MONDO:0018096 "ICD10:Q87.0" +MONDO:0020308 "ICD10CM:G40.0" +MONDO:0018096 "ICD10CM:Q87.0" MONDO:0018096 "OMIM:614819" MONDO:0018096 "MedDRA:10064963" MONDO:0018096 "GARD:0004936" @@ -73359,46 +71517,43 @@ HP:0100502 "MSH:D014806" HP:0100502 "UMLS:C0042847" HP:0100502 "SNOMEDCT_US:190634004" MONDO:0032940 "OMIM:618826" +MONDO:0016158 "ICD10CM:G47.419" MONDO:0016158 "OMIM:161400" MONDO:0016158 "OMIM:609039" MONDO:0016158 "OMIM:612851" -MONDO:0016158 "ICD10:G47.41" -MONDO:0016158 "ICD10:G47.419" MONDO:0016158 "ICD9:347.0" MONDO:0016158 "SCTID:60380001" MONDO:0016158 "NCIT:C84489" MONDO:0016158 "OMIM:614223" MONDO:0016158 "GARD:0007162" -MONDO:0016158 "ICD10:G47.4" MONDO:0016158 "MESH:D009290" MONDO:0016158 "OMIM:612417" MONDO:0016158 "Orphanet:2073" MONDO:0016158 "DOID:8986" +MONDO:0016158 "ICD10CM:G47.4" MONDO:0016158 "EFO:0000614" MONDO:0016158 "OMIM:614250" MONDO:0016158 "OMIM:605841" MONDO:0016158 "MedDRA:10028713" MONDO:0015530 "ICD9:339.09" MONDO:0015530 "MESH:D051303" -MONDO:0015530 "ICD10:G44.8" MONDO:0015530 "UMLS:C1565172" MONDO:0015530 "Orphanet:157843" MONDO:0015530 "SCTID:449814007" MONDO:0015530 "NCIT:C117074" +MONDO:0015530 "ICD10CM:G44.8" MONDO:0007186 "NCIT:C92560" MONDO:0007186 "OMIM:109350" MONDO:0007186 "SCTID:235595009" MONDO:0007186 "DOID:8534" MONDO:0007186 "MESH:D005764" -MONDO:0007186 "ICD10:K21" MONDO:0007186 "EFO:0003948" MONDO:0007186 "NCIT:C26781" MONDO:0007186 "UMLS:C0017168" -MONDO:0007186 "ICD10:K21.9" MONDO:0007186 "ICD9:530.81" HP:0000944 "UMLS:C4025814" MONDO:0019272 "Orphanet:79357" -MONDO:0019272 "ICD10:Q82.8" +MONDO:0019272 "ICD10CM:Q82.8" MONDO:0019272 "SCTID:239066003" MONDO:0019272 "ICD9:757.39" MONDO:0005874 "UMLS:C0752191" @@ -73411,14 +71566,12 @@ MONDO:0004620 "DOID:8628" MONDO:0004620 "ONCOTREE:LDCHL" MONDO:0004620 "Orphanet:98846" MONDO:0004620 "NCIT:C9125" -MONDO:0004620 "ICD10:C81.3" MONDO:0004620 "SCTID:118610003" NCBITaxon:310911 "GC_ID:1" MONDO:0001454 "UMLS:C0154855" MONDO:0001454 "DOID:12164" MONDO:0001454 "ICD9:362.62" MONDO:0001454 "SCTID:37075008" -MONDO:0001454 "ICD10:H35.42" MONDO:0003423 "DOID:5387" MONDO:0003423 "NCIT:C6834" MONDO:0003423 "UMLS:C1334759" @@ -73430,16 +71583,15 @@ MONDO:0002400 "EFO:0008997" MONDO:0002400 "MESH:D013585" MONDO:0002400 "SCTID:416209007" MONDO:0002400 "HP:0100769" +MONDO:0022946 "GARD:0001702" MONDO:0006142 "DOID:6740" MONDO:0006142 "NCIT:C7982" MONDO:0006142 "ONCOTREE:SCCE" MONDO:0006142 "UMLS:C0279674" MONDO:0006142 "EFO:1000171" -MONDO:0022946 "GARD:0001702" MONDO:0012742 "DOID:0110220" MONDO:0012742 "GARD:0010361" MONDO:0012742 "Orphanet:130" -MONDO:0012742 "ICD10:I49.8" MONDO:0012742 "OMIM:611875" MONDO:0012742 "MESH:C567509" MONDO:0012742 "UMLS:C2678478" @@ -73447,7 +71599,6 @@ MONDO:0004830 "UMLS:C0015645" MONDO:0004830 "NCIT:C50559" MONDO:0004830 "SCTID:36948007" MONDO:0004830 "DOID:9598" -MONDO:0004830 "ICD10:M72.9" MONDO:0004830 "ICD9:729.4" MONDO:0004830 "MESH:D005208" MONDO:0004830 "HP:0100537" @@ -73457,6 +71608,7 @@ MONDO:0100316 "OMIM:613688" MONDO:0100316 "OMIM:616249" MONDO:0100316 "OMIM:192500" MONDO:0100316 "OMIM:616247" +MONDO:0100316 "ICD10CM:I45.8" MONDO:0100316 "OMIM:600919" MONDO:0100316 "OMIM:611820" MONDO:0100316 "NCIT:C85049" @@ -73464,24 +71616,23 @@ MONDO:0100316 "OMIM:613695" MONDO:0100316 "MedDRA:10039211" MONDO:0100316 "OMIM:612955" MONDO:0100316 "OMIM:611818" -MONDO:0100316 "ICD10:I45.8" MONDO:0100316 "OMIM:613693" MONDO:0100316 "OMIM:603830" MONDO:0100316 "GARD:0003284" MONDO:0100316 "SCTID:20852007" MONDO:0100316 "DOID:0110644" MONDO:0015413 "Orphanet:141239" -MONDO:0015413 "ICD10:Q18.8" +MONDO:0015413 "ICD10CM:Q18.8" MONDO:0017599 "ICDO:9591/3" MONDO:0017599 "NCIT:C80309" MONDO:0017599 "UMLS:C2699508" MONDO:0017599 "Orphanet:300869" MONDO:0017599 "ONCOTREE:SDRPL" -MONDO:0017599 "ICD10:C83.0" MONDO:0017599 "SCTID:763884007" +MONDO:0017599 "ICD10CM:C83.0" MONDO:0016971 "SCTID:78468005" +MONDO:0016971 "ICD10CM:G71.0" MONDO:0016971 "Orphanet:263" -MONDO:0016971 "ICD10:G71.0" MONDO:0016971 "UMLS:C0686353" MONDO:0016971 "MESH:D049288" MONDO:0016971 "DOID:11724" @@ -73491,7 +71642,7 @@ MONDO:0016971 "GARD:0006907" MONDO:0019155 "Orphanet:755" MONDO:0019155 "MedDRA:10024406" MONDO:0019155 "OMIM:238320" -MONDO:0019155 "ICD10:Q56.1" +MONDO:0019155 "ICD10CM:Q56.1" MONDO:0019155 "GARD:0003244" MONDO:0009995 "OMIM:268240" MONDO:0022504 "GARD:0000795" @@ -73506,9 +71657,9 @@ MONDO:0013159 "OMIM:613155" MONDO:0003039 "NCIT:C34386" MONDO:0003039 "MESH:D000849" MONDO:0003039 "DOID:4541" +MONDO:0008780 "ICD10CM:G12.2" MONDO:0008780 "OMIM:205100" MONDO:0008780 "DOID:0060194" -MONDO:0008780 "ICD10:G12.2" MONDO:0008780 "GARD:0009470" MONDO:0008780 "MESH:C565957" MONDO:0008780 "Orphanet:300605" @@ -73521,20 +71672,20 @@ MONDO:0003841 "NCIT:C6741" MONDO:0007583 "MESH:C563167" MONDO:0007583 "OMIM:133600" MONDO:0007583 "UMLS:C0877431" +MONDO:0011730 "ICD10CM:E88.8" MONDO:0011730 "ICD9:282.3" MONDO:0011730 "SCTID:237983002" MONDO:0011730 "GARD:0006476" MONDO:0011730 "DOID:0111261" MONDO:0011730 "UMLS:C2936826" -MONDO:0011730 "ICD10:E88.8" MONDO:0011730 "MESH:C538191" MONDO:0011730 "Orphanet:24" MONDO:0011730 "OMIM:606812" MONDO:0010960 "OMIM:600931" +MONDO:0019358 "ICD10CM:E72.1" MONDO:0019358 "OMIM:272300" MONDO:0019358 "SCTID:715980003" MONDO:0019358 "OMIM:252150" -MONDO:0019358 "ICD10:E72.1" MONDO:0019358 "Orphanet:833" MONDO:0019358 "OMIM:615501" MONDO:0019358 "UMLS:C4275019" @@ -73544,16 +71695,16 @@ MONDO:0003908 "UMLS:C1333073" MONDO:0003908 "NCIT:C5289" MONDO:0019534 "SCTID:718716008" MONDO:0019534 "Orphanet:90036" +MONDO:0019534 "ICD10CM:D59.1" MONDO:0019534 "UMLS:C4305257" -MONDO:0019534 "ICD10:D59.1" +MONDO:0012451 "Orphanet:73247" +MONDO:0012451 "OMIM:610247" +MONDO:0012451 "UMLS:C0341106" MONDO:0006228 "UMLS:C1333785" MONDO:0006228 "EFO:1000276" MONDO:0006228 "DOID:5593" MONDO:0006228 "NCIT:C5472" MONDO:0006228 "ONCOTREE:PSTAD" -MONDO:0012451 "Orphanet:73247" -MONDO:0012451 "OMIM:610247" -MONDO:0012451 "UMLS:C0341106" MONDO:0045012 "SCTID:28710006" MONDO:0045012 "UMLS:C0268283" MONDO:0004067 "UMLS:C1333750" @@ -73574,10 +71725,10 @@ MONDO:0010816 "Orphanet:3010" MONDO:0010816 "OMIM:600096" MONDO:0010816 "UMLS:C2931142" MONDO:0010816 "DOID:0050740" +MONDO:0010816 "ICD10CM:Q87.8" MONDO:0010816 "GARD:0000371" -MONDO:0010816 "ICD10:Q87.8" MONDO:0010816 "SCTID:721887007" -MONDO:0017618 "ICD10:E74.3" +MONDO:0017618 "ICD10CM:E74.3" MONDO:0017618 "Orphanet:306436" MONDO:0024571 "NCIT:C4991" MONDO:0024571 "UMLS:C0877121" @@ -73586,18 +71737,18 @@ MONDO:0005469 "HP:0001278" MONDO:0005469 "SCTID:28651003" MONDO:0005469 "NCIT:C84970" MONDO:0005469 "EFO:0005252" +MONDO:0013892 "ICD10CM:N00.5" MONDO:0013892 "UMLS:C4055342" MONDO:0013892 "Orphanet:329918" MONDO:0013892 "UMLS:CN187045" MONDO:0013892 "Orphanet:329931" MONDO:0013892 "NCIT:C123043" -MONDO:0013892 "ICD10:N00.5" MONDO:0013892 "Orphanet:54370" MONDO:0013892 "UMLS:C3553720" MONDO:0013892 "OMIM:614809" +MONDO:0007669 "ICD10CM:E11.2" MONDO:0007669 "GARD:0010221" MONDO:0007669 "OMIM:137920" -MONDO:0007669 "ICD10:E11.2" MONDO:0007669 "Orphanet:93111" MONDO:0007669 "SCTID:446641003" MONDO:0007669 "MESH:C535520" @@ -73612,8 +71763,8 @@ HP:0030809 "UMLS:C4280755" MONDO:0008845 "OMIM:209100" MONDO:0008845 "MESH:C565926" MONDO:0008845 "UMLS:C1859594" -MONDO:0017148 "ICD10:I27.0" MONDO:0017148 "OMIMPS:178600" +MONDO:0017148 "ICD10CM:I27.0" MONDO:0017148 "UMLS:CN202575" MONDO:0017148 "SCTID:697897003" MONDO:0017148 "Orphanet:275777" @@ -73622,9 +71773,8 @@ HP:0012732 "SNOMEDCT_US:33225004" HP:0012732 "UMLS:C3495676" HP:0012732 "MSH:D000071056" MONDO:0015836 "Orphanet:180111" -MONDO:0015836 "ICD10:Q51.1" +MONDO:0015836 "ICD10CM:Q51.1" MONDO:0006864 "EFO:1001057" -MONDO:0006864 "ICD10:K11.8" MONDO:0006864 "DOID:12901" MONDO:0006864 "MedDRA:10072176" MONDO:0006864 "MESH:D012797" @@ -73636,7 +71786,7 @@ MONDO:0017805 "UMLS:CN203768" MONDO:0001057 "DOID:10536" MONDO:0001057 "UMLS:C1334585" MONDO:0001057 "NCIT:C5484" -MONDO:0020055 "ICD10:Q99.8" +MONDO:0020055 "ICD10CM:Q99.8" MONDO:0020055 "Orphanet:98152" MONDO:0020055 "UMLS:CN229262" MONDO:0001233 "DOID:11233" @@ -73646,7 +71796,6 @@ MONDO:0001233 "ICD9:376.04" MONDO:0021231 "NCIT:C4800" MONDO:0021231 "EFO:1000509" MONDO:0000170 "Orphanet:98938" -MONDO:0000170 "ICD10:Q11.2" MONDO:0000170 "OMIMPS:300345" MONDO:0000170 "OMIM:251505" MONDO:0000170 "OMIM:611638" @@ -73661,6 +71810,7 @@ MONDO:0000170 "OMIM:610092" MONDO:0000170 "UMLS:CN228419" MONDO:0000170 "MESH:C537463" MONDO:0000170 "OMIM:616428" +MONDO:0000170 "ICD10CM:Q11.2" NCBITaxon:376913 "GC_ID:1" MONDO:0030900 "OMIM:619150" MONDO:0002370 "EFO:1000112" @@ -73694,7 +71844,7 @@ MONDO:0009598 "UMLS:C1855188" MONDO:0016403 "Orphanet:225703" MONDO:0016403 "UMLS:CN201332" MONDO:0018589 "Orphanet:439232" -MONDO:0018589 "ICD10:E85.8" +MONDO:0018589 "ICD10CM:E85.8" MONDO:0060774 "NCIT:C4948" MONDO:0060774 "UMLS:C0750071" MONDO:0009427 "OMIM:241500" @@ -73702,9 +71852,9 @@ MONDO:0009427 "UMLS:C2673477" MONDO:0009427 "DOID:0110914" MONDO:0009427 "Orphanet:247651" MONDO:0009427 "SCTID:55236002" +MONDO:0009427 "ICD10CM:E83.3" MONDO:0009427 "Orphanet:436" MONDO:0009427 "UMLS:C0268412" -MONDO:0009427 "ICD10:E83.3" MONDO:0009427 "Orphanet:247623" HP:0010950 "UMLS:C4023630" MONDO:0014036 "DOID:0110049" @@ -73715,12 +71865,12 @@ NCBITaxon:204428 "GC_ID:11" NCBITaxon:204428 "PMID:29458499" NCBITaxon:204428 "PMID:26654112" NCBITaxon:204428 "PMID:24185849" +MONDO:0010563 "ICD10CM:H53.5" MONDO:0010563 "Orphanet:16" MONDO:0010563 "GARD:0000917" MONDO:0010563 "OMIM:303700" MONDO:0010563 "DOID:0050679" MONDO:0010563 "UMLS:CN036572" -MONDO:0010563 "ICD10:H53.5" MONDO:0010563 "SCTID:24704003" MONDO:0010563 "MESH:C536238" MONDO:0010408 "SCTID:723581006" @@ -73728,30 +71878,30 @@ MONDO:0010408 "Orphanet:140952" MONDO:0010408 "GARD:0010295" MONDO:0010408 "UMLS:C2678045" MONDO:0010408 "OMIM:300707" +MONDO:0010408 "ICD10CM:Q87.8" MONDO:0010408 "MESH:C567475" -MONDO:0010408 "ICD10:Q87.8" MONDO:0054560 "OMIM:607095" -MONDO:0018261 "ICD10:Q84.8" +MONDO:0018261 "ICD10CM:Q84.8" MONDO:0018261 "Orphanet:370059" MONDO:0018261 "UMLS:CN204836" MONDO:0016019 "NCIT:C125384" MONDO:0016019 "ICD9:323.9" MONDO:0016019 "UMLS:C2930868" MONDO:0016019 "MESH:C535291" -MONDO:0016019 "ICD10:G04.8" +MONDO:0016019 "ICD10CM:G04.8" MONDO:0016019 "Orphanet:1929" MONDO:0016019 "SCTID:230191005" MONDO:0016019 "GARD:0007527" MONDO:0009785 "SCTID:254068007" MONDO:0009785 "MESH:C537122" +MONDO:0009785 "ICD10CM:Q78.8" MONDO:0009785 "GARD:0004098" -MONDO:0009785 "ICD10:Q78.8" MONDO:0009785 "OMIM:258480" MONDO:0009785 "UMLS:C0432219" MONDO:0009785 "Orphanet:2746" MONDO:0007351 "Orphanet:98945" -MONDO:0007351 "ICD10:Q14.8" MONDO:0007351 "GARD:0001436" +MONDO:0007351 "ICD10CM:Q14.8" MONDO:0007351 "OMIM:120300" MONDO:0022875 "GARD:0001546" MONDO:0001315 "SCTID:191962000" @@ -73760,15 +71910,15 @@ MONDO:0001315 "ICD9:306.2" MONDO:0001315 "MESH:D009449" MONDO:0011965 "OMIM:611631" MONDO:0011965 "Orphanet:98819" -MONDO:0011965 "ICD10:G40.2" MONDO:0011965 "DOID:0060755" +MONDO:0011965 "ICD10CM:G40.2" MONDO:0011965 "MESH:C536956" MONDO:0011965 "OMIM:608096" MONDO:0011965 "GARD:0005135" MONDO:0007218 "OMIM:112800" -MONDO:0007218 "ICD10:Q73.8" MONDO:0007218 "Orphanet:93394" MONDO:0007218 "GARD:0000990" +MONDO:0007218 "ICD10CM:Q73.8" MONDO:0007218 "SCTID:715721005" MONDO:0007218 "MESH:C537097" MONDO:0007218 "DOID:0110967" @@ -73778,21 +71928,19 @@ MONDO:0010093 "OMIM:272450" MONDO:0010093 "Orphanet:2654" MONDO:0021660 "Orphanet:397587" MONDO:0021660 "UMLS:C1395264" -MONDO:0021660 "ICD10:B35.8" +MONDO:0021660 "ICD10CM:B35.8" MONDO:0021660 "NCIT:C35073" MONDO:0012911 "Orphanet:79444" MONDO:0012911 "GARD:0010681" +MONDO:0012911 "ICD10CM:E20.1" MONDO:0012911 "UMLS:C2932716" MONDO:0012911 "SCTID:717792007" MONDO:0012911 "OMIM:612462" -MONDO:0012911 "ICD10:E20.1" MONDO:0012911 "MESH:C548076" MONDO:0011849 "SCTID:156370009" MONDO:0011849 "DOID:9008" -MONDO:0011849 "ICD10:L40.5" MONDO:0011849 "NCIT:C61277" MONDO:0011849 "ICD9:696.0" -MONDO:0011849 "ICD10:L40.50" MONDO:0011849 "MESH:D015535" MONDO:0011849 "UMLS:C0003872" MONDO:0011849 "EFO:0003778" @@ -73809,7 +71957,6 @@ MONDO:0008383 "EFO:0000685" MONDO:0008383 "NCIT:C2884" MONDO:0008383 "OMIM:180300" MONDO:0008383 "SCTID:69896004" -MONDO:0008383 "ICD10:M06.9" MONDO:0008383 "DOID:7148" MONDO:0008383 "Orphanet:284130" MONDO:0008383 "ICD9:714.0" @@ -73820,15 +71967,15 @@ MONDO:0008719 "MESH:C535666" MONDO:0008719 "UMLS:C0796290" MONDO:0008719 "OMIM:201310" MONDO:0008719 "Orphanet:971" +MONDO:0017892 "ICD10CM:Q74.3" MONDO:0017892 "Orphanet:319332" MONDO:0017892 "SCTID:764812008" -MONDO:0017892 "ICD10:Q74.3" MONDO:0017892 "UMLS:CN203942" MONDO:0009856 "SCTID:449817000" MONDO:0009856 "Orphanet:709" MONDO:0009856 "UMLS:C0796012" MONDO:0009856 "MESH:C537617" -MONDO:0009856 "ICD10:Q13.4" +MONDO:0009856 "ICD10CM:Q13.4" MONDO:0009856 "DOID:0080201" MONDO:0009856 "OMIM:261540" MONDO:0009856 "DOID:0070312" @@ -73838,16 +71985,16 @@ MONDO:0009856 "ICD9:743.44" MONDO:0013324 "Orphanet:99141" MONDO:0013324 "UMLS:C3150875" MONDO:0013324 "OMIM:613611" -MONDO:0013324 "ICD10:Q82.0" +MONDO:0013324 "ICD10CM:Q82.0" MONDO:0000924 "SCTID:33325001" -MONDO:0000924 "ICD10:J98.3" MONDO:0000924 "ICD9:518.2" +MONDO:0000924 "ICD10CM:J98.3" MONDO:0000924 "DOID:10031" MONDO:0000924 "UMLS:C0155918" MONDO:0000044 "GARD:0006735" MONDO:0000044 "OMIMPS:193100" MONDO:0000044 "Orphanet:437" -MONDO:0000044 "ICD10:E83.3" +MONDO:0000044 "ICD10CM:E83.3" MONDO:0000044 "MedDRA:10060873" MONDO:0021296 "NCIT:C4597" MONDO:0021296 "ICD9:233.9" @@ -73879,14 +72026,13 @@ MONDO:0024421 "GARD:0004839" MONDO:0003360 "NCIT:C7085" MONDO:0003360 "DOID:5271" MONDO:0003360 "Orphanet:104076" -MONDO:0003360 "ICD10:C17.8" -MONDO:0003360 "ICD10:C17.1" -MONDO:0003360 "ICD10:C17.2" -MONDO:0003360 "ICD10:C17.0" +MONDO:0003360 "ICD10CM:C17.3" +MONDO:0003360 "ICD10CM:C17.1" +MONDO:0003360 "ICD10CM:C17.8" +MONDO:0003360 "ICD10CM:C17.2" MONDO:0003360 "SCTID:716651004" MONDO:0003360 "UMLS:C0920305" -MONDO:0003360 "ICD10:C17.3" -MONDO:0001485 "ICD10:F32.8" +MONDO:0003360 "ICD10CM:C17.0" MONDO:0001485 "ICD9:296.82" MONDO:0001485 "SCTID:191659001" MONDO:0001485 "DOID:12294" @@ -73907,7 +72053,6 @@ HP:0002013 "MSH:D014839" MONDO:0013495 "DOID:0060717" MONDO:0013495 "OMIM:613943" MONDO:0013495 "Orphanet:313" -MONDO:0013495 "ICD10:Q80.2" MONDO:0013671 "Orphanet:254688" MONDO:0013671 "UMLS:C3280352" MONDO:0013671 "OMIM:614293" @@ -73919,8 +72064,8 @@ MONDO:0013714 "UMLS:C3280586" MONDO:0013714 "ICD9:279.19" MONDO:0013714 "OMIM:614372" MONDO:0015838 "Orphanet:180118" +MONDO:0015838 "ICD10CM:Q51.3" MONDO:0015838 "SCTID:14689000" -MONDO:0015838 "ICD10:Q51.3" MONDO:0017807 "Orphanet:314613" MONDO:0017807 "UMLS:C3891714" MONDO:0017807 "NCIT:C118370" @@ -73929,7 +72074,7 @@ MONDO:0004928 "SCTID:76616003" MONDO:0004928 "DOID:9942" MONDO:0004928 "UMLS:C0272394" MONDO:0004928 "NCIT:C35346" -MONDO:0015439 "ICD10:Q93.2" +MONDO:0015439 "ICD10CM:Q93.2" MONDO:0015439 "NCIT:C121983" MONDO:0015439 "MESH:C537636" MONDO:0015439 "Orphanet:1447" @@ -73939,7 +72084,6 @@ NCBITaxon:71274 "PMID:12144762" NCBITaxon:71274 "GC_ID:1" MONDO:0015615 "Orphanet:165652" MONDO:0015615 "UMLS:CN199991" -MONDO:0018838 "ICD10:Q04.8" MONDO:0018838 "DOID:0050453" MONDO:0018838 "OMIM:300067" MONDO:0018838 "UMLS:C0266463" @@ -73947,13 +72091,13 @@ MONDO:0018838 "OMIM:300215" MONDO:0018838 "OMIM:607432" MONDO:0018838 "OMIM:611603" MONDO:0018838 "OMIM:615191" -MONDO:0018838 "ICD10:Q04.3" MONDO:0018838 "Orphanet:48471" MONDO:0018838 "HP:0001339" MONDO:0018838 "OMIMPS:607432" MONDO:0018838 "SCTID:204036008" MONDO:0018838 "GARD:0012291" MONDO:0018838 "Orphanet:102009" +MONDO:0018838 "ICD10CM:Q04.3" MONDO:0018838 "GARD:0007300" MONDO:0018838 "NCIT:C103921" MONDO:0018838 "MedDRA:10048911" @@ -73966,8 +72110,8 @@ MONDO:0000148 "OMIMPS:614742" MONDO:0000148 "UMLS:CN262497" MONDO:0041535 "UMLS:C0275758" MONDO:0041535 "SCTID:13272007" -MONDO:0019389 "ICD10:Q87.0" MONDO:0019389 "Orphanet:83648" +MONDO:0019389 "ICD10CM:Q87.0" MONDO:0019389 "UMLS:CN227624" MONDO:0004059 "NCIT:C50778" MONDO:0004059 "MESH:D003807" @@ -73984,11 +72128,10 @@ MONDO:0008689 "OMIM:194380" MONDO:0018754 "ICD9:989.0" MONDO:0018754 "Orphanet:466670" MONDO:0018754 "SCTID:66207005" -MONDO:0018754 "ICD10:T65.0" MONDO:0018754 "UMLS:CN242145" MONDO:0009635 "UMLS:C0341306" +MONDO:0009635 "ICD10CM:P78.3" MONDO:0009635 "SCTID:235729009" -MONDO:0009635 "ICD10:P78.3" MONDO:0009635 "OMIM:251850" MONDO:0009635 "MedDRA:10068494" MONDO:0009635 "GARD:0007039" @@ -74001,8 +72144,8 @@ MONDO:0100240 "OMIM:614486" MONDO:0100240 "OMIM:188050" MONDO:0021075 "UMLS:C1334941" MONDO:0021075 "NCIT:C7068" +MONDO:0017484 "ICD10CM:Q72.4" MONDO:0017484 "Orphanet:295065" -MONDO:0017484 "ICD10:Q72.4" MONDO:0011967 "Orphanet:2149" MONDO:0011967 "Orphanet:98892" MONDO:0011967 "OMIM:608098" @@ -74012,17 +72155,16 @@ MONDO:0004106 "DOID:7097" MONDO:0004106 "UMLS:C1515307" MONDO:0004106 "NCIT:C39924" MONDO:0019786 "Orphanet:94066" -MONDO:0019786 "ICD10:Q87.8" +MONDO:0019786 "ICD10CM:Q87.8" MONDO:0009293 "OMIM:232600" MONDO:0009293 "MedDRA:10018462" MONDO:0009293 "MESH:D006012" MONDO:0009293 "Orphanet:368" MONDO:0009293 "NCIT:C84738" -MONDO:0009293 "ICD10:E74.0" MONDO:0009293 "SCTID:55912009" MONDO:0009293 "GARD:0006528" MONDO:0009293 "UMLS:C0017924" -MONDO:0009293 "ICD10:E74.04" +MONDO:0009293 "ICD10CM:E74.0" MONDO:0009293 "DOID:2746" MONDO:0013220 "DOID:0111032" MONDO:0013220 "MESH:C566557" @@ -74035,6 +72177,7 @@ MONDO:0008096 "OMIM:163100" MONDO:0008096 "MESH:C567524" NCBITaxon:5739 "GC_ID:6" MONDO:0022714 "GARD:0010185" +MONDO:0022714 "OMIM:176010" MONDO:0007730 "UMLS:C1840551" MONDO:0007730 "MESH:C564183" MONDO:0007730 "OMIM:142730" @@ -74048,7 +72191,6 @@ HP:0004430 "MSH:D016511" MONDO:0005508 "SCTID:716742001" MONDO:0005508 "GARD:0007035" MONDO:0005508 "OMIM:600209" -MONDO:0005508 "ICD10:Q78.6" MONDO:0005508 "Orphanet:321" MONDO:0005508 "UMLS:C0206641" MONDO:0005508 "OMIM:133700" @@ -74062,11 +72204,11 @@ MONDO:0005508 "EFO:0005560" MONDO:0017671 "UMLS:CN203557" MONDO:0017671 "Orphanet:307804" MONDO:0007708 "UMLS:C0221025" +MONDO:0007708 "ICD10CM:D18.0" MONDO:0007708 "SCTID:86635005" MONDO:0007708 "MESH:D059885" MONDO:0007708 "OMIM:141000" MONDO:0007708 "ICD9:287.39" -MONDO:0007708 "ICD10:D18.0" MONDO:0007708 "MedDRA:10058423" MONDO:0007708 "Orphanet:2330" MONDO:0007708 "GARD:0000070" @@ -74102,14 +72244,13 @@ HP:0100299 "UMLS:C4022159" MONDO:0001181 "DOID:11032" MONDO:0001181 "ICD9:371.22" MONDO:0001181 "SCTID:27536004" -MONDO:0001181 "ICD10:H18.23" MONDO:0001181 "UMLS:C0155110" MONDO:0016828 "UMLS:C4274077" MONDO:0016828 "OMIM:205950" MONDO:0016828 "Orphanet:260305" MONDO:0016828 "OMIM:182170" -MONDO:0016828 "ICD10:D64.0" MONDO:0016828 "SCTID:717050005" +MONDO:0016828 "ICD10CM:D64.0" MONDO:0006971 "EFO:1001181" MONDO:0006971 "DOID:1896" MONDO:0006971 "ICD9:153.3" @@ -74124,18 +72265,13 @@ HP:0000953 "UMLS:C0162834" MONDO:0019281 "Orphanet:79366" MONDO:0021465 "UMLS:C0496860" MONDO:0021465 "NCIT:C4773" +MONDO:0021465 "ICD10CM:D12.1" MONDO:0021465 "SCTID:91981009" -MONDO:0021465 "ICD10:D12.1" MONDO:0000380 "UMLS:C0854995" MONDO:0000380 "UMLS:C0280334" MONDO:0000380 "NCIT:C8193" MONDO:0000380 "DOID:0050619" MONDO:0000380 "NCIT:C6014" -MONDO:0014728 "EFO:0009037" -MONDO:0014728 "DOID:0111489" -MONDO:0014728 "OMIM:616672" -MONDO:0014728 "Orphanet:477774" -MONDO:0014728 "UMLS:C4225251" MONDO:0005866 "ICD9:031.8" MONDO:0005866 "UMLS:C0026916" MONDO:0005866 "NCIT:C36197" @@ -74144,10 +72280,13 @@ MONDO:0005866 "MESH:D015270" MONDO:0005866 "EFO:0007386" MONDO:0005866 "DOID:2755" MONDO:0005866 "SCTID:373436002" +MONDO:0014728 "EFO:0009037" +MONDO:0014728 "DOID:0111489" +MONDO:0014728 "OMIM:616672" +MONDO:0014728 "Orphanet:477774" +MONDO:0014728 "UMLS:C4225251" MONDO:0003432 "ICD9:378.7" MONDO:0003432 "ICD9:378.40" -MONDO:0003432 "ICD10:H50.8" -MONDO:0003432 "ICD10:H50.89" MONDO:0003432 "UMLS:C0038379" MONDO:0003432 "NCIT:C35040" MONDO:0003432 "DOID:540" @@ -74165,7 +72304,7 @@ MONDO:0011145 "OMIM:601794" MONDO:0011145 "UMLS:C1866256" MONDO:0011145 "MESH:C566623" MONDO:0011145 "Orphanet:363741" -MONDO:0011145 "ICD10:Q87.8" +MONDO:0011145 "ICD10CM:Q87.8" MONDO:0023644 "NCIT:C9315" MONDO:0023644 "UMLS:C0220641" MONDO:0023644 "GARD:0009360" @@ -74173,10 +72312,10 @@ MONDO:0023644 "GARD:0009342" MONDO:0013988 "OMIM:614954" MONDO:0013988 "UMLS:C3554194" MONDO:0020504 "OMIM:268200" +MONDO:0020504 "ICD10CM:R82.1" MONDO:0020504 "SCTID:716721003" MONDO:0020504 "OMIM:550500" MONDO:0020504 "Orphanet:99845" -MONDO:0020504 "ICD10:R82.1" MONDO:0021348 "NCIT:C3404" MONDO:0021348 "SCTID:126900000" MONDO:0021348 "ICD9:239.5" @@ -74185,9 +72324,9 @@ MONDO:0021348 "ONCOTREE:TESTIS" MONDO:0013716 "UMLS:C3280597" MONDO:0013716 "Orphanet:86" MONDO:0013716 "OMIM:614375" -MONDO:0001650 "ICD10:N30.0" MONDO:0001650 "NCIT:C26934" MONDO:0001650 "UMLS:C0149523" +MONDO:0001650 "ICD10CM:N30.0" MONDO:0001650 "SCTID:68226007" MONDO:0001650 "ICD9:595.0" MONDO:0001650 "DOID:13148" @@ -74195,8 +72334,8 @@ MONDO:0007553 "UMLS:C1851570" MONDO:0007553 "OMIM:131880" MONDO:0007553 "MESH:C565049" MONDO:0005937 "ICD9:327.42" -MONDO:0005937 "ICD10:G47.52" MONDO:0005937 "DOID:9091" +MONDO:0005937 "ICD10CM:G47.52" MONDO:0005937 "MESH:D020187" MONDO:0005937 "EFO:0007462" MONDO:0005937 "SCTID:415238003" @@ -74213,20 +72352,18 @@ MONDO:0010776 "OMIM:500005" MONDO:0010776 "UMLS:C1839021" MONDO:0010776 "MESH:C564024" MONDO:0014592 "OMIM:616335" -MONDO:0014592 "DOID:0080107" MONDO:0014592 "Orphanet:2518" +MONDO:0014592 "DOID:0080107" MONDO:0014592 "UMLS:C4225362" MONDO:0012976 "DOID:0110559" MONDO:0012976 "MESH:C567214" MONDO:0012976 "OMIM:612644" MONDO:0012976 "UMLS:C2675236" -MONDO:0012976 "ICD10:H90.3" HP:0100533 "UMLS:C4020969" +MONDO:0006541 "ICD10CM:Q81" MONDO:0006541 "EFO:1000690" -MONDO:0006541 "ICD10:Q81" MONDO:0006541 "Wikipedia:Epidermolysis_bullosa" MONDO:0006541 "MESH:D004820" -MONDO:0006541 "ICD10:Q81.9" MONDO:0006541 "SCTID:61003004" MONDO:0006541 "DOID:2730" MONDO:0006541 "ICD9:757.39" @@ -74237,12 +72374,12 @@ MONDO:0019218 "GTR:AN0923838" MONDO:0019218 "UMLS:CN231736" MONDO:0019218 "UMLS:CN544763" CL:1001005 "KUPO:0001037" -MONDO:0013190 "Orphanet:331" -MONDO:0013190 "OMIM:613235" -MONDO:0013190 "MESH:C567688" MONDO:0040797 "UMLS:C0042376" MONDO:0040797 "SCTID:128187005" MONDO:0040797 "MESH:D014653" +MONDO:0013190 "Orphanet:331" +MONDO:0013190 "OMIM:613235" +MONDO:0013190 "MESH:C567688" HP:0002514 "SNOMEDCT_US:17944005" HP:0002514 "UMLS:C0270685" MONDO:0044765 "GTR:AN0200342" @@ -74252,31 +72389,31 @@ MONDO:0044765 "GTR:AN0255485" MONDO:0044765 "GTR:AN0096395" MONDO:0044765 "NCIT:C122798" MONDO:0044765 "UMLS:CN034406" -MONDO:0015134 "ICD10:D70" MONDO:0015134 "Orphanet:101987" MONDO:0015134 "NCIT:C61242" +MONDO:0015134 "ICD10CM:D70" MONDO:0010095 "Orphanet:1178" MONDO:0010095 "MESH:C564788" MONDO:0010095 "OMIM:272600" MONDO:0010095 "UMLS:C1848932" +MONDO:0006424 "EFO:1000541" +MONDO:0006424 "ONCOTREE:SOFTTISSUE" +MONDO:0006424 "SCTID:387837005" +MONDO:0006424 "NCIT:C3377" MONDO:0011041 "MESH:C563347" MONDO:0011041 "SCTID:715576000" MONDO:0011041 "OMIM:601345" MONDO:0011041 "Orphanet:69083" MONDO:0011041 "UMLS:C1832444" MONDO:0011041 "GARD:0010526" -MONDO:0006424 "EFO:1000541" -MONDO:0006424 "ONCOTREE:SOFTTISSUE" -MONDO:0006424 "SCTID:387837005" -MONDO:0006424 "NCIT:C3377" MONDO:0007982 "NCIT:C131868" MONDO:0007982 "Orphanet:33067" MONDO:0007982 "DOID:0080020" MONDO:0007982 "UMLS:C0265295" MONDO:0007982 "OMIM:156400" +MONDO:0007982 "ICD10CM:Q78.5" MONDO:0007982 "MESH:C537564" MONDO:0007982 "GARD:0000079" -MONDO:0007982 "ICD10:Q78.5" MONDO:0007982 "SCTID:24629003" HP:0011799 "UMLS:C4023183" MONDO:0009800 "Orphanet:2768" @@ -74291,12 +72428,12 @@ MONDO:0024519 "OMIM:191830" MONDO:0019084 "Orphanet:70475" MONDO:0019084 "SCTID:235760009" MONDO:0019084 "MedDRA:10037766" +MONDO:0019084 "ICD10CM:K62.7" MONDO:0019084 "ICD9:569.49" -MONDO:0019084 "ICD10:K62.7" +MONDO:0016208 "ICD10CM:K62.6" MONDO:0016208 "Orphanet:209964" MONDO:0016208 "UMLS:CN200964" MONDO:0016208 "UMLS:C4274343" -MONDO:0016208 "ICD10:K62.6" MONDO:0016208 "SCTID:716685003" MONDO:0015492 "GARD:0013011" MONDO:0015492 "MESH:D056648" @@ -74304,7 +72441,6 @@ MONDO:0015492 "Orphanet:156152" MONDO:0015492 "UMLS:C2717865" MONDO:0016575 "MESH:D007619" MONDO:0016575 "OMIM:244400" -MONDO:0016575 "ICD10:Q34.8" MONDO:0016575 "OMIM:614874" MONDO:0016575 "OMIMPS:244400" MONDO:0016575 "OMIM:616037" @@ -74321,6 +72457,7 @@ MONDO:0016575 "DOID:0050144" MONDO:0016575 "UMLS:C0008780" MONDO:0016575 "NCIT:C84797" MONDO:0016575 "OMIM:615505" +MONDO:0016575 "ICD10CM:Q34.8" MONDO:0016575 "OMIM:608644" MONDO:0016575 "OMIM:242670" MONDO:0016575 "OMIM:617091" @@ -74358,7 +72495,7 @@ MONDO:0016575 "OMIM:613193" MONDO:0013697 "UMLS:C3280525" MONDO:0013697 "OMIM:614333" MONDO:0017521 "Orphanet:295140" -MONDO:0017521 "ICD10:Q74.8" +MONDO:0017521 "ICD10CM:Q74.8" MONDO:0030502 "MESH:D058670" MONDO:0030502 "EFO:1001297" MONDO:0030502 "NCIT:C36601" @@ -74375,26 +72512,25 @@ MONDO:0002362 "ICDO:8461/0" MONDO:0002362 "UMLS:C0334360" MONDO:0019951 "Orphanet:97244" MONDO:0019951 "MESH:C535683" +MONDO:0019951 "ICD10CM:G71.2" MONDO:0019951 "GARD:0004723" MONDO:0019951 "OMIM:602771" -MONDO:0019951 "ICD10:G71.2" MONDO:0037872 "MESH:D001885" MONDO:0037872 "EFO:1001275" MONDO:0037872 "ICD9:041.85" MONDO:0037872 "SCTID:26484003" MONDO:0037872 "UMLS:C0006015" NCBITaxon:6211 "GC_ID:1" +MONDO:0022338 "GARD:0010577" MONDO:0012549 "UMLS:C1853116" MONDO:0012549 "UMLS:C3683483" +MONDO:0012549 "ICD10CM:G11.2" MONDO:0012549 "OMIM:610743" MONDO:0012549 "GARD:0012234" MONDO:0012549 "DOID:0111618" -MONDO:0012549 "ICD10:G11.2" MONDO:0012549 "Orphanet:88644" -MONDO:0022338 "GARD:0010577" MONDO:0001253 "DOID:11282" MONDO:0001253 "SCTID:1135000" -MONDO:0001253 "ICD10:H31.02" MONDO:0001253 "ICD9:363.31" MONDO:0001253 "UMLS:C0152131" MONDO:0017649 "Orphanet:306741" @@ -74420,7 +72556,7 @@ MONDO:0023059 "UMLS:C2931128" MONDO:0019450 "UMLS:C4274995" MONDO:0019450 "Orphanet:86823" MONDO:0019450 "SCTID:715817007" -MONDO:0019450 "ICD10:Q04.3" +MONDO:0019450 "ICD10CM:Q04.3" MONDO:0008188 "MESH:C566832" MONDO:0008188 "UMLS:C0263385" MONDO:0008188 "OMIM:167900" @@ -74430,7 +72566,7 @@ MONDO:0011537 "DOID:0060867" MONDO:0011537 "OMIM:605309" MONDO:0011537 "UMLS:C1854416" MONDO:0018253 "UMLS:CN204829" -MONDO:0018253 "ICD10:Q87.0" +MONDO:0018253 "ICD10CM:Q87.0" MONDO:0018253 "Orphanet:370010" MONDO:0021630 "ICD9:214.0" MONDO:0021630 "SCTID:93159009" @@ -74438,13 +72574,12 @@ MONDO:0015867 "DOID:0050918" MONDO:0015867 "NCIT:C3917" MONDO:0015867 "Orphanet:180247" MONDO:0015867 "UMLS:C0262659" -MONDO:0015867 "ICD10:C52" +MONDO:0015867 "ICD10CM:C52" MONDO:0005374 "SCTID:414824005" MONDO:0005374 "SCTID:425333006" MONDO:0005374 "ICD9:238.79" MONDO:0005374 "UMLS:C0282609" MONDO:0005374 "NCIT:C35370" -MONDO:0005374 "ICD10:D47.1" MONDO:0005374 "MESH:D019046" MONDO:0005374 "DOID:4960" MONDO:0016941 "Orphanet:262716" @@ -74455,7 +72590,7 @@ MONDO:0010368 "UMLS:C1845117" MONDO:0010368 "GARD:0009917" MONDO:0010368 "MESH:C536289" MONDO:0010368 "OMIM:300584" -MONDO:0009130 "ICD10:Q77.7" +MONDO:0009130 "ICD10CM:Q77.7" MONDO:0009130 "SCTID:82699004" MONDO:0009130 "DOID:0111167" MONDO:0009130 "NCIT:C124844" @@ -74464,7 +72599,7 @@ MONDO:0009130 "GARD:0006295" MONDO:0009130 "OMIM:304950" MONDO:0009130 "OMIM:223800" MONDO:0009130 "UMLS:C0265286" -MONDO:0020433 "ICD10:Q20.8" +MONDO:0020433 "ICD10CM:Q20.8" MONDO:0020433 "Orphanet:99102" MONDO:0033367 "DOID:0080285" MONDO:0033367 "UMLS:CN757795" @@ -74486,7 +72621,6 @@ MONDO:0010604 "UMLS:C0008533" MONDO:0010604 "Orphanet:98879" MONDO:0010604 "ICD9:286.1" MONDO:0010604 "SCTID:41788008" -MONDO:0010604 "ICD10:D67" MONDO:0010604 "GARD:0008732" MONDO:0010604 "DOID:12259" MONDO:0005939 "EFO:0007464" @@ -74494,8 +72628,8 @@ MONDO:0005939 "MESH:D012088" MONDO:0005939 "UMLS:C0035112" MONDO:0019333 "UMLS:CN206002" MONDO:0019333 "Orphanet:79643" -MONDO:0019333 "ICD10:E16.1" MONDO:0019333 "OMIM:256450" +MONDO:0019333 "ICD10CM:E16.1" MONDO:0000873 "ICD9:202.80" MONDO:0000873 "SCTID:109965004" MONDO:0000873 "ICDO:9727/3" @@ -74505,21 +72639,20 @@ MONDO:0000873 "UMLS:C0079748" MONDO:0000873 "DOID:0080147" MONDO:0010778 "GARD:0006230" MONDO:0010778 "OMIM:500007" -MONDO:0012978 "ICD10:Q34.8" MONDO:0012978 "MESH:C567212" MONDO:0012978 "OMIM:612649" MONDO:0012978 "DOID:0110602" MONDO:0012978 "UMLS:C2675229" +MONDO:0009458 "UMLS:C0877024" MONDO:0009458 "NCIT:C135087" -MONDO:0009458 "ICD10:Q77.7" -MONDO:0009458 "SCTID:723995003" -MONDO:0009458 "OMIM:242900" -MONDO:0009458 "GARD:0004984" MONDO:0009458 "DOID:0060490" +MONDO:0009458 "GARD:0004984" +MONDO:0009458 "OMIM:242900" MONDO:0009458 "MedDRA:10048699" MONDO:0009458 "MESH:C536629" +MONDO:0009458 "SCTID:723995003" +MONDO:0009458 "ICD10CM:Q77.7" MONDO:0009458 "Orphanet:1830" -MONDO:0009458 "UMLS:C0877024" MONDO:0007761 "SCTID:238085009" MONDO:0007761 "Orphanet:413" MONDO:0007761 "DOID:1172" @@ -74530,20 +72663,19 @@ MONDO:0007761 "UMLS:CN074246" MONDO:0007761 "OMIM:145750" MONDO:0007761 "OMIM:144600" MONDO:0007761 "MESH:D006953" -MONDO:0007761 "ICD10:E78.1" MONDO:0007414 "Orphanet:73" -MONDO:0007414 "ICD10:M89.5" MONDO:0007414 "MedDRA:10071283" MONDO:0007414 "SCTID:1515008" MONDO:0007414 "GARD:0006542" MONDO:0007414 "ICD9:733.99" +MONDO:0007414 "ICD10CM:M89.5" MONDO:0007414 "OMIM:123880" -MONDO:0010555 "OMIM:302950" MONDO:0010555 "OMIM:602497" -MONDO:0010555 "UMLS:C3669395" -MONDO:0010555 "ICD10:Q77.3" MONDO:0010555 "Orphanet:79345" +MONDO:0010555 "UMLS:C3669395" +MONDO:0010555 "OMIM:302950" MONDO:0010555 "UMLS:C1844853" +MONDO:0010555 "ICD10CM:Q77.3" MONDO:0010555 "GARD:0001296" CL:0002198 "FMA:67606" MONDO:0003165 "DOID:4848" @@ -74573,44 +72705,43 @@ MONDO:0013129 "Orphanet:49382" MONDO:0013129 "Orphanet:1871" MONDO:0008750 "MESH:C537322" MONDO:0008750 "GARD:0003604" -MONDO:0008750 "ICD10:Q87.8" MONDO:0008750 "UMLS:C1859910" +MONDO:0008750 "ICD10CM:Q87.8" MONDO:0008750 "SCTID:719377004" MONDO:0008750 "OMIM:203340" MONDO:0008750 "Orphanet:2513" MONDO:0016764 "OMIM:613517" -MONDO:0016764 "ICD10:Q11.1" MONDO:0016764 "OMIM:611038" -MONDO:0016764 "ICD10:Q11.2" MONDO:0016764 "OMIM:613704" MONDO:0016764 "OMIM:613094" +MONDO:0016764 "ICD10CM:Q11.1" +MONDO:0016764 "ICD10CM:Q11.0" MONDO:0016764 "OMIM:251600" MONDO:0016764 "UMLS:CN202019" MONDO:0016764 "GARD:0012085" MONDO:0016764 "OMIM:156850" -MONDO:0016764 "ICD10:Q11.0" MONDO:0016764 "Orphanet:2542" MONDO:0016764 "OMIM:610093" MONDO:0016764 "OMIM:615113" +MONDO:0016764 "ICD10CM:Q11.2" MONDO:0018964 "OMIM:250940" MONDO:0018964 "UMLS:C4303479" MONDO:0018964 "Orphanet:622" MONDO:0018964 "OMIM:277410" -MONDO:0018964 "ICD10:E72.1" MONDO:0018964 "SCTID:721225009" +MONDO:0018964 "ICD10CM:E72.1" MONDO:0018964 "OMIM:236270" MONDO:0017710 "Orphanet:3091" MONDO:0003634 "DOID:576" MONDO:0003634 "NCIT:C38012" -MONDO:0003634 "ICD10:R80.9" -MONDO:0003634 "ICD10:R80" MONDO:0003634 "ICD9:791.0" +MONDO:0003634 "ICD10CM:R80" MONDO:0003634 "MESH:D011507" MONDO:0032752 "OMIM:618437" -MONDO:0013316 "ICD10:H35.5" MONDO:0013316 "DOID:0050578" MONDO:0013316 "UMLS:C3150833" MONDO:0013316 "Orphanet:247834" +MONDO:0013316 "ICD10CM:H35.5" MONDO:0013316 "OMIM:613587" NCBITaxon:4447 "PMID:25249442" NCBITaxon:4447 "GC_ID:1" @@ -74648,7 +72779,7 @@ MONDO:0008132 "UMLS:C1833830" MONDO:0008132 "OMIM:165200" MONDO:0015635 "SCTID:239118007" MONDO:0015635 "Orphanet:166286" -MONDO:0015635 "ICD10:Q82.5" +MONDO:0015635 "ICD10CM:Q82.5" MONDO:0015635 "UMLS:C0473579" MONDO:0015635 "NCIT:C4740" MONDO:0009690 "DOID:0110668" @@ -74666,10 +72797,10 @@ MONDO:0010407 "MESH:C567476" MONDO:0010407 "SCTID:725912001" MONDO:0010407 "UMLS:C2678046" MONDO:0010407 "MESH:C563154" +MONDO:0010407 "ICD10CM:Q87.8" MONDO:0010407 "OMIM:300706" MONDO:0010407 "GARD:0005604" MONDO:0010407 "OMIM:309590" -MONDO:0010407 "ICD10:Q87.8" MONDO:0010407 "Orphanet:3056" MONDO:0010407 "GARD:0005610" MONDO:0005718 "EFO:0007223" @@ -74677,36 +72808,33 @@ MONDO:0005718 "UMLS:C0010078" MONDO:0002728 "NCIT:C3808" MONDO:0002728 "ICDO:8963/3" MONDO:0002728 "DOID:3672" +MONDO:0002728 "ICD10CM:C49.9" MONDO:0002728 "Orphanet:69077" MONDO:0002728 "MESH:D018335" MONDO:0002728 "UMLS:C0206743" MONDO:0002728 "EFO:0005701" MONDO:0002728 "OMIM:609322" -MONDO:0002728 "ICD10:C49.9" MONDO:0002728 "OMIM:613325" MONDO:0002728 "ONCOTREE:MRT" MONDO:0002728 "GARD:0007572" +MONDO:0017157 "ICD10CM:I27.2" MONDO:0017157 "SCTID:697910001" MONDO:0017157 "UMLS:CN202580" MONDO:0017157 "UMLS:C3698136" MONDO:0017157 "Orphanet:275837" MONDO:0017157 "ICD9:416.8" -MONDO:0017157 "ICD10:I27.2" MONDO:0002505 "NCIT:C9022" MONDO:0002505 "UMLS:C1321865" MONDO:0002505 "DOID:3079" -MONDO:0018103 "ICD10:L66.2" MONDO:0018103 "SCTID:53593008" MONDO:0018103 "ICD9:704.09" MONDO:0018103 "GARD:0000373" MONDO:0018103 "Orphanet:346" MONDO:0018103 "UMLS:CN227263" MONDO:0017814 "SCTID:766935007" -MONDO:0017814 "ICD10:C85.7" MONDO:0017814 "Orphanet:314684" MONDO:0017814 "UMLS:C1332582" MONDO:0017814 "NCIT:C6620" -MONDO:0017814 "ICD10:C85,7" MONDO:0017814 "DOID:6759" MONDO:0012799 "MESH:C567419" MONDO:0012799 "UMLS:C2677506" @@ -74714,9 +72842,9 @@ MONDO:0012799 "DOID:0110317" MONDO:0012799 "OMIM:612098" HP:0008905 "UMLS:C1866730" CL:0002518 "KUPO:0001019" -MONDO:0015165 "ICD10:C92.0" MONDO:0015165 "UMLS:CN197505" MONDO:0015165 "Orphanet:102381" +MONDO:0015165 "ICD10CM:C92.0" MONDO:0012287 "Orphanet:90653" MONDO:0012287 "OMIM:609508" MONDO:0012287 "Orphanet:828" @@ -74725,9 +72853,9 @@ MONDO:0012287 "UMLS:C1836081" MONDO:0012287 "Orphanet:209867" MONDO:0019756 "SCTID:253136007" MONDO:0019756 "OMIM:609637" +MONDO:0019756 "ICD10CM:Q04.2" MONDO:0019756 "OMIM:157170" MONDO:0019756 "OMIM:610829" -MONDO:0019756 "ICD10:Q04.2" MONDO:0019756 "Orphanet:93924" NCBITaxon:35788 "PMID:8934912" NCBITaxon:35788 "PMID:7902843" @@ -74738,6 +72866,7 @@ MONDO:0002915 "DOID:4207" MONDO:0018559 "UMLS:C4305545" MONDO:0018559 "Orphanet:435365" MONDO:0018559 "SCTID:717752005" +MONDO:0008353 "ICD10CM:O26.8" MONDO:0008353 "ICD9:646.80" MONDO:0008353 "MedDRA:10066100" MONDO:0008353 "GARD:0009635" @@ -74746,7 +72875,6 @@ MONDO:0008353 "ICD9:692.9" MONDO:0008353 "Orphanet:64745" MONDO:0008353 "SCTID:88697005" MONDO:0008353 "OMIM:178995" -MONDO:0008353 "ICD10:O26.8" MONDO:0017344 "Orphanet:289651" MONDO:0005235 "DOID:9551" MONDO:0005235 "EFO:0003073" @@ -74765,14 +72893,14 @@ MONDO:0003237 "UMLS:C1336903" MONDO:0003237 "DOID:4994" MONDO:0003237 "NCIT:C6338" MONDO:0019943 "OMIM:160120" -MONDO:0019943 "ICD10:G71.1" +MONDO:0019943 "ICD10CM:G71.1" MONDO:0019943 "UMLS:C1834559" MONDO:0019943 "GARD:0001512" MONDO:0019943 "Orphanet:972" NCBITaxon:12083 "GC_ID:1" MONDO:0015386 "UMLS:C0266725" MONDO:0015386 "SCTID:31248004" -MONDO:0015386 "ICD10:D37.0" +MONDO:0015386 "ICD10CM:D37.0" MONDO:0015386 "Orphanet:141077" MONDO:0015386 "HP:0030767" MONDO:0000734 "OMIM:249620" @@ -74782,22 +72910,22 @@ MONDO:0000734 "Orphanet:2728" MONDO:0000734 "SCTID:412787009" MONDO:0000734 "DOID:0060289" MONDO:0009794 "GARD:0000816" +MONDO:0009794 "ICD10CM:Q87.0" MONDO:0009794 "SCTID:239031000" MONDO:0009794 "Orphanet:2753" MONDO:0009794 "OMIM:258860" MONDO:0009794 "DOID:0060374" MONDO:0009794 "MESH:C537133" MONDO:0009794 "UMLS:C0406727" -MONDO:0009794 "ICD10:Q87.0" MONDO:0042962 "UMLS:C2931284" MONDO:0042962 "GARD:0000324" MONDO:0042962 "MEDGEN:419036" MONDO:0042962 "MESH:C536673" MONDO:0014349 "UMLS:C4014347" +MONDO:0014349 "ICD10CM:Q04.3" MONDO:0014349 "OMIM:615803" MONDO:0014349 "DOID:0060279" MONDO:0014349 "Orphanet:411493" -MONDO:0014349 "ICD10:Q04.3" MONDO:0013286 "UMLS:C3150741" MONDO:0013286 "Orphanet:1572" MONDO:0013286 "OMIM:613496" @@ -74807,6 +72935,7 @@ MONDO:0018097 "Orphanet:3451" MONDO:0018097 "UMLS:C0037769" MONDO:0018097 "ICD9:345.60" MONDO:0018097 "NCIT:C84788" +MONDO:0018097 "ICD10CM:G40.4" MONDO:0018097 "OMIM:613722" MONDO:0018097 "OMIM:617065" MONDO:0018097 "SCTID:28055006" @@ -74818,26 +72947,23 @@ MONDO:0018097 "OMIM:616341" MONDO:0018097 "DOID:0050562" MONDO:0018097 "MedDRA:10021750" MONDO:0018097 "OMIM:615006" -MONDO:0018097 "ICD10:G40.4" NCBITaxon:30005 "GC_ID:1" MONDO:0014232 "OMIM:615529" MONDO:0014232 "Orphanet:35093" MONDO:0032941 "OMIM:618827" MONDO:0015531 "DOID:4330" +MONDO:0015531 "ICD10CM:D76.3" MONDO:0015531 "MESH:D015616" MONDO:0015531 "SCTID:127069007" MONDO:0015531 "GARD:0008231" -MONDO:0015531 "ICD10:D76.3" MONDO:0015531 "UMLS:C0019624" MONDO:0015531 "ICD9:288.4" MONDO:0015531 "Orphanet:157987" -MONDO:0012920 "ICD10:E10" MONDO:0012920 "OMIM:612521" MONDO:0012920 "DOID:0110758" MONDO:0012920 "UMLS:C2675865" MONDO:0012920 "MESH:C567285" MONDO:0001455 "UMLS:C0154856" -MONDO:0001455 "ICD10:H35.41" MONDO:0001455 "ICD9:362.63" MONDO:0001455 "SCTID:3577000" MONDO:0001455 "DOID:12165" @@ -74848,6 +72974,7 @@ MONDO:0002401 "DOID:2704" MONDO:0008728 "OMIM:201910" MONDO:0008728 "NCIT:C131087" MONDO:0008728 "Orphanet:90794" +MONDO:0008728 "ICD10CM:E25.0" MONDO:0008728 "GARD:0005757" MONDO:0008728 "UMLS:C4273964" MONDO:0008728 "Orphanet:418" @@ -74855,33 +72982,31 @@ MONDO:0008728 "SCTID:717261006" MONDO:0008728 "SCTID:124221007" MONDO:0008728 "GARD:0012665" MONDO:0008728 "MESH:C535979" -MONDO:0008728 "ICD10:E25.0" MONDO:0011137 "MESH:C566637" MONDO:0011137 "OMIM:601718" MONDO:0011137 "DOID:0110354" MONDO:0011137 "Orphanet:791" -MONDO:0011137 "ICD10:H35.5" MONDO:0011137 "GARD:0010398" MONDO:0011137 "UMLS:C1866422" MONDO:0008611 "UMLS:C1860773" MONDO:0008611 "SCTID:732928005" -MONDO:0008611 "ICD10:Q74.0" MONDO:0008611 "Orphanet:3383" MONDO:0008611 "GARD:0002750" +MONDO:0008611 "ICD10CM:Q74.0" MONDO:0008611 "OMIM:191000" MONDO:0008611 "MESH:C566022" CL:1000456 "FMA:72142" MONDO:0015414 "SCTID:204521002" MONDO:0015414 "Orphanet:141242" MONDO:0015414 "ICD9:748.1" -MONDO:0015414 "ICD10:Q18.8" +MONDO:0015414 "ICD10CM:Q18.8" MONDO:0009122 "OMIM:223350" MONDO:0009122 "MESH:C565617" MONDO:0009122 "UMLS:C1857225" MONDO:0016972 "Orphanet:263004" MONDO:0016625 "Orphanet:248302" MONDO:0016625 "UMLS:CN226976" -MONDO:0010399 "ICD10:Q99.8" +MONDO:0010399 "ICD10CM:Q99.8" MONDO:0010399 "Orphanet:261476" MONDO:0010399 "OMIM:300679" MONDO:0010399 "DOID:0060427" @@ -74890,14 +73015,14 @@ MONDO:0010399 "ICD9:277.6" MONDO:0010399 "SCTID:297257004" MONDO:0016801 "UMLS:CN227002" MONDO:0016801 "Orphanet:254830" -MONDO:0020464 "ICD10:Q10.1" +MONDO:0020464 "ICD10CM:Q10.1" MONDO:0020464 "UMLS:CN207327" MONDO:0020464 "Orphanet:99172" MONDO:0020464 "SCTID:400954002" MONDO:0021506 "SCTID:92405007" -MONDO:0021506 "ICD10:D33.4" MONDO:0021506 "ICD9:225.3" MONDO:0021506 "UMLS:C0154034" +MONDO:0021506 "ICD10CM:D33.4" MONDO:0021506 "NCIT:C3627" MONDO:0005539 "EFO:0005629" MONDO:0003666 "NCIT:C6279" @@ -74911,7 +73036,6 @@ MONDO:0002896 "DOID:4156" MONDO:0002896 "UMLS:C2931317" MONDO:0002896 "NCIT:C128412" MONDO:0006613 "UMLS:C0155105" -MONDO:0006613 "ICD10:H18.06" MONDO:0006613 "DOID:12311" MONDO:0006613 "EFO:1000770" MONDO:0006613 "SCTID:55031000" @@ -74924,9 +73048,9 @@ MONDO:0008915 "UMLS:C0796031" MONDO:0008915 "GARD:0003373" MONDO:0008915 "UMLS:C0796083" MONDO:0008915 "OMIM:212112" -MONDO:0008915 "ICD10:Q87.8" MONDO:0008915 "DOID:0111584" MONDO:0008915 "SCTID:719451006" +MONDO:0008915 "ICD10CM:Q87.8" MONDO:0008915 "Orphanet:2229" CL:1001572 "CALOHA:TS-2397" MONDO:0012578 "OMIM:610908" @@ -74938,7 +73062,6 @@ MONDO:0019359 "GARD:0007585" MONDO:0019359 "Orphanet:83311" MONDO:0019359 "NCIT:C128410" MONDO:0019359 "DOID:0050052" -MONDO:0019359 "ICD10:A77.0" MONDO:0019359 "SCTID:186772009" MONDO:0019359 "MedDRA:10039207" MONDO:0019359 "UMLS:C0035793" @@ -74951,19 +73074,19 @@ NCBITaxon:33993 "PMID:11760958" NCBITaxon:33993 "GC_ID:11" MONDO:0019535 "Orphanet:90037" MONDO:0019535 "SCTID:309742004" -MONDO:0019535 "ICD10:D59.0" +MONDO:0019535 "ICD10CM:D59.0" MONDO:0000240 "DOID:0050073" MONDO:0000240 "UMLS:C0238013" MONDO:0000240 "SCTID:721798004" MONDO:0006143 "Orphanet:213767" MONDO:0006143 "NCIT:C4028" MONDO:0006143 "ONCOTREE:CESC" +MONDO:0006143 "ICD10CM:C53.1" MONDO:0006143 "UMLS:C0279671" MONDO:0006143 "EFO:1000172" -MONDO:0006143 "ICD10:C53.8" +MONDO:0006143 "ICD10CM:C53.0" +MONDO:0006143 "ICD10CM:C53.8" MONDO:0006143 "DOID:3744" -MONDO:0006143 "ICD10:C53.1" -MONDO:0006143 "ICD10:C53.0" MONDO:0006143 "SCTID:254886006" MONDO:0001884 "SCTID:126972009" MONDO:0001884 "ICD9:239.7" @@ -74976,12 +73099,12 @@ MONDO:0006229 "ONCOTREE:STSC" MONDO:0006229 "EFO:1000277" MONDO:0006229 "NCIT:C6764" MONDO:0007787 "OMIM:145701" +MONDO:0007787 "ICD10CM:Q84.2" MONDO:0007787 "Orphanet:1023" MONDO:0007787 "GARD:0008206" MONDO:0007787 "Orphanet:2222" MONDO:0007787 "UMLS:C1840362" MONDO:0007787 "DOID:0111060" -MONDO:0007787 "ICD10:Q84.2" MONDO:0004831 "DOID:9599" MONDO:0004831 "UMLS:C0432528" MONDO:0004831 "NCIT:C4728" @@ -74994,7 +73117,6 @@ MONDO:0009343 "OMIM:235750" PO:0025007 "PO_GIT:63" HP:0000275 "UMLS:C1849121" HP:0000275 "UMLS:C1837463" -MONDO:0013182 "ICD10:Q92.3" MONDO:0013182 "Orphanet:217385" MONDO:0013182 "MESH:C567705" MONDO:0013182 "UMLS:C2750748" @@ -75010,19 +73132,17 @@ HP:0002475 "SNOMEDCT_US:414667000" HP:0002475 "Fyler:4309" MONDO:0011870 "Orphanet:281139" MONDO:0011870 "SCTID:718631006" +MONDO:0011870 "ICD10CM:Q80.3" MONDO:0011870 "UMLS:C1843463" MONDO:0011870 "OMIM:607602" MONDO:0011870 "Orphanet:312" -MONDO:0011870 "ICD10:Q80.3" MONDO:0011870 "MESH:C564367" MONDO:0010817 "OMIM:600101" MONDO:0010817 "DOID:0110558" MONDO:0010817 "MESH:C567441" -MONDO:0010817 "ICD10:H90.3" MONDO:0010817 "UMLS:C2677637" MONDO:0002507 "ICD9:523.8" MONDO:0002507 "SCTID:54711002" -MONDO:0002507 "ICD10:K06.1" MONDO:0002507 "DOID:3086" MONDO:0002507 "MESH:D019214" HP:0012418 "SNOMEDCT_US:389087006" @@ -75030,12 +73150,12 @@ HP:0012418 "UMLS:C0700292" HP:0012418 "MSH:D000860" MONDO:0018670 "UMLS:CN237736" MONDO:0018670 "Orphanet:449291" -MONDO:0018670 "ICD10:Q99.2" +MONDO:0018670 "ICD10CM:Q99.2" MONDO:0018670 "OMIM:300624" +MONDO:0014234 "ICD10CM:L81.8" MONDO:0014234 "OMIM:615537" MONDO:0014234 "SCTID:239133004" MONDO:0014234 "Orphanet:178307" -MONDO:0014234 "ICD10:L81.8" MONDO:0014234 "DOID:0060258" MONDO:0014234 "MESH:C562924" MONDO:0014234 "ICD9:709.09" @@ -75055,11 +73175,11 @@ MONDO:0014410 "UMLS:C3889636" MONDO:0014410 "SCTID:719301002" MONDO:0014410 "GARD:0012368" MONDO:0014410 "Orphanet:363710" +MONDO:0014410 "ICD10CM:G11.8" MONDO:0014410 "OMIM:615945" -MONDO:0014410 "ICD10:G11.8" MONDO:0007584 "OMIM:133690" MONDO:0007584 "Orphanet:1962" -MONDO:0007584 "ICD10:Q87.5" +MONDO:0007584 "ICD10CM:Q87.5" MONDO:0007584 "UMLS:C1851428" MONDO:0007584 "MESH:C565034" NCBITaxon:29930 "GC_ID:1" @@ -75067,28 +73187,25 @@ MONDO:0008203 "UMLS:C3149707" MONDO:0008203 "OMIM:168830" NCBITaxon:147545 "GC_ID:1" MONDO:0016217 "MedDRA:10064924" -MONDO:0016217 "ICD10:H81.8" MONDO:0016217 "SCTID:446079007" MONDO:0016217 "Orphanet:210272" MONDO:0016217 "UMLS:C1608983" +MONDO:0016217 "ICD10CM:H81.8" MONDO:0016217 "GARD:0006959" MONDO:0013910 "Orphanet:478" MONDO:0013910 "DOID:0090074" MONDO:0013910 "UMLS:C3553841" MONDO:0013910 "OMIM:614837" -MONDO:0013910 "ICD10:E23.0" -MONDO:0020056 "ICD10:Q99.8" MONDO:0020056 "SCTID:726401004" +MONDO:0020056 "ICD10CM:Q99.8" MONDO:0020056 "Orphanet:98153" MONDO:0015330 "UMLS:CN199360" MONDO:0015330 "Orphanet:139024" MONDO:0012452 "DOID:0110516" MONDO:0012452 "UMLS:C1853248" MONDO:0012452 "MESH:C565211" -MONDO:0012452 "ICD10:H90.3" MONDO:0012452 "OMIM:610248" MONDO:0000171 "UMLS:CN239483" -MONDO:0000171 "ICD10:Q04.3" MONDO:0000171 "OMIM:615249" MONDO:0000171 "OMIM:253800" MONDO:0000171 "OMIM:613153" @@ -75107,14 +73224,14 @@ MONDO:0000171 "Orphanet:899" MONDO:0000171 "OMIM:615181" MONDO:0000171 "OMIM:613154" MONDO:0000171 "OMIM:614830" +MONDO:0000171 "ICD10CM:Q04.3" MONDO:0000171 "OMIM:614643" MONDO:0000171 "DOID:0050560" MONDO:0016567 "SCTID:38023001" -MONDO:0016567 "ICD10:G83.8" MONDO:0016567 "MedDRA:10024792" +MONDO:0016567 "ICD10CM:G83.8" MONDO:0016567 "ICD9:344.81" MONDO:0016567 "GARD:0006919" -MONDO:0016567 "ICD10:G83.5" MONDO:0016567 "Orphanet:2406" MONDO:0016567 "DOID:12697" MONDO:0002371 "UMLS:C0334497" @@ -75135,13 +73252,13 @@ MONDO:0012053 "GARD:0010033" MONDO:0012053 "Orphanet:231160" MONDO:0012053 "UMLS:C1837894" MONDO:0017619 "Orphanet:306446" -MONDO:0017619 "ICD10:E74.3" +MONDO:0017619 "ICD10CM:E74.3" MONDO:0000736 "UMLS:C1306229" MONDO:0000736 "OMIM:615402" +MONDO:0000736 "ICD10CM:L81.8" MONDO:0000736 "OMIMPS:127500" MONDO:0000736 "OMIM:612715" MONDO:0000736 "Orphanet:241" -MONDO:0000736 "ICD10:L81.8" MONDO:0000736 "UMLS:C2930995" MONDO:0000736 "MESH:C535730" MONDO:0000736 "DOID:0060304" @@ -75156,7 +73273,7 @@ MONDO:0024572 "UMLS:C1334159" MONDO:0024572 "NCIT:C35686" MONDO:0008800 "OMIM:206920" MONDO:0008800 "SCTID:703403003" -MONDO:0008800 "ICD10:Q87.2" +MONDO:0008800 "ICD10CM:Q87.2" MONDO:0008800 "DOID:0060861" MONDO:0008800 "ICD9:755.8" MONDO:0008800 "MESH:C537769" @@ -75169,34 +73286,33 @@ MONDO:0032943 "OMIM:618829" MONDO:0008846 "MESH:C538259" MONDO:0008846 "SCTID:111571009" MONDO:0008846 "DOID:0050649" -MONDO:0008846 "ICD10:E88.0" MONDO:0008846 "GARD:0009595" MONDO:0008846 "NCIT:C125693" MONDO:0008846 "Orphanet:1195" MONDO:0008846 "OMIM:209300" MONDO:0008846 "UMLS:C0521802" -MONDO:0017149 "ICD10:I27.2" MONDO:0017149 "EFO:0009192" +MONDO:0017149 "ICD10CM:I27.2" MONDO:0017149 "Orphanet:275786" MONDO:0017149 "UMLS:C0340544" MONDO:0015837 "Orphanet:180114" -MONDO:0015837 "ICD10:Q51.3" +MONDO:0015837 "ICD10CM:Q51.3" MONDO:0008197 "Orphanet:60015" MONDO:0008197 "OMIM:168500" -MONDO:0017806 "ICD10:Q87.3" +MONDO:0017806 "ICD10CM:Q87.3" MONDO:0017806 "UMLS:CN203769" MONDO:0017806 "Orphanet:314585" MONDO:0017806 "OMIM:614846" MONDO:0018262 "Orphanet:370068" -MONDO:0018262 "ICD10:Q86.8" +MONDO:0018262 "ICD10CM:Q86.8" MONDO:0018262 "UMLS:C1739111" MONDO:0010681 "OMIM:310350" MONDO:0010681 "UMLS:C1839650" MONDO:0022876 "GARD:0001547" MONDO:0001316 "SCTID:4510004" -MONDO:0001316 "ICD10:G00.2" MONDO:0001316 "DOID:11574" MONDO:0001316 "ICD9:320.2" +MONDO:0001316 "ICD10CM:G00.2" MONDO:0001316 "UMLS:C0154639" MONDO:0007219 "SCTID:715722003" MONDO:0007219 "Orphanet:93382" @@ -75204,23 +73320,22 @@ MONDO:0007219 "OMIM:112910" MONDO:0007219 "GARD:0000983" MONDO:0007219 "MESH:C537092" MONDO:0007219 "DOID:0110968" +MONDO:0007219 "ICD10CM:Q73.8" MONDO:0007219 "UMLS:C1862130" -MONDO:0007219 "ICD10:Q73.8" MONDO:0025130 "UMLS:C0039010" MONDO:0025130 "MESH:D013555" MONDO:0043123 "UMLS:C2931090" MONDO:0043123 "GARD:0003407" MONDO:0043123 "MESH:C536031" MONDO:0011302 "MESH:C566395" -MONDO:0011302 "ICD10:E10" MONDO:0011302 "DOID:0110754" MONDO:0011302 "UMLS:C1864068" MONDO:0011302 "OMIM:603266" MONDO:0009599 "MESH:C565396" MONDO:0009599 "OMIM:250420" MONDO:0009599 "Orphanet:2502" -MONDO:0009599 "ICD10:Q78.5" MONDO:0009599 "GARD:0003566" +MONDO:0009599 "ICD10CM:Q78.5" MONDO:0009599 "UMLS:C1855175" MONDO:0012860 "MESH:C567353" MONDO:0012860 "OMIM:612304" @@ -75247,7 +73362,7 @@ MONDO:0021474 "NCIT:C8417" MONDO:0007187 "DOID:2512" MONDO:0007187 "OMIM:109400" MONDO:0007187 "UMLS:C0004779" -MONDO:0007187 "ICD10:Q87.8" +MONDO:0007187 "ICD10CM:Q87.8" MONDO:0007187 "NCIT:C2892" MONDO:0007187 "MedDRA:10062804" MONDO:0007187 "Orphanet:377" @@ -75257,7 +73372,7 @@ MONDO:0007187 "MESH:D001478" NCBITaxon:204429 "PMID:26179278" NCBITaxon:204429 "GC_ID:11" MONDO:0010564 "SCTID:77479002" -MONDO:0010564 "ICD10:H53.53" +MONDO:0010564 "ICD10CM:H53.53" MONDO:0010564 "DOID:13909" MONDO:0010564 "UMLS:C0155016" MONDO:0010564 "EFO:0005581" @@ -75270,15 +73385,13 @@ MONDO:0005875 "UMLS:C0027983" MONDO:0005875 "EFO:0007395" MONDO:0005875 "MESH:D009521" MONDO:0005875 "NCIT:C34849" -MONDO:0004621 "ICD10:C00.0" MONDO:0004621 "DOID:8630" MONDO:0004621 "ICD9:140.3" -MONDO:0004621 "ICD10:C00.3" MONDO:0004621 "ICD9:140.0" MONDO:0011510 "GARD:0010140" -MONDO:0011510 "ICD10:Q87.8" MONDO:0011510 "Orphanet:97297" MONDO:0011510 "SCTID:720565000" +MONDO:0011510 "ICD10CM:Q87.8" MONDO:0011510 "MESH:C537419" MONDO:0011510 "OMIM:605039" MONDO:0011510 "UMLS:C0796232" @@ -75288,7 +73401,7 @@ MONDO:0010409 "MESH:C567474" MONDO:0010409 "OMIM:300709" MONDO:0010409 "UMLS:C2678039" MONDO:0010409 "DOID:0060813" -MONDO:0010409 "ICD10:Q87.8" +MONDO:0010409 "ICD10CM:Q87.8" MONDO:0000328 "UMLS:C0085681" MONDO:0000328 "NCIT:C113750" MONDO:0000328 "HP:0002905" @@ -75299,7 +73412,6 @@ MONDO:0012743 "DOID:0110221" MONDO:0012743 "GARD:0010362" MONDO:0012743 "MESH:C567508" MONDO:0012743 "Orphanet:130" -MONDO:0012743 "ICD10:I49.8" MONDO:0012743 "UMLS:C2678477" MONDO:0012743 "OMIM:611876" MONDO:0009786 "MESH:C537127" @@ -75308,31 +73420,31 @@ MONDO:0009786 "OMIM:258500" MONDO:0009786 "GARD:0010200" MONDO:0009786 "DOID:0111435" MONDO:0016491 "UMLS:C0472777" -MONDO:0016491 "ICD10:D58.2" +MONDO:0016491 "ICD10CM:D58.2" MONDO:0016491 "Orphanet:231249" MONDO:0012055 "OMIM:608545" MONDO:0012055 "Orphanet:2370" MONDO:0012055 "UMLS:C1837884" MONDO:0012055 "MESH:C563914" -MONDO:0012055 "ICD10:Q74.8" +MONDO:0012055 "ICD10CM:Q74.8" MONDO:0012231 "UMLS:C1836485" +MONDO:0012231 "ICD10CM:G60.0" MONDO:0012231 "OMIM:609260" -MONDO:0012231 "ICD10:G60.0" MONDO:0012231 "MESH:C563757" MONDO:0012231 "SCTID:764850002" MONDO:0012231 "Orphanet:99947" MONDO:0012231 "NCIT:C150646" MONDO:0012231 "DOID:0110155" -MONDO:0010094 "MESH:C535780" -MONDO:0010094 "ICD9:758.89" +MONDO:0010094 "Orphanet:3275" MONDO:0010094 "GARD:4974" -MONDO:0010094 "GARD:0004974" MONDO:0010094 "SCTID:702351004" -MONDO:0010094 "ICD10:Q76.4" -MONDO:0010094 "OMIM:272460" MONDO:0010094 "DOID:0090116" +MONDO:0010094 "ICD10CM:Q76.4" MONDO:0010094 "UMLS:C1848934" -MONDO:0010094 "Orphanet:3275" +MONDO:0010094 "GARD:0004974" +MONDO:0010094 "MESH:C535780" +MONDO:0010094 "ICD9:758.89" +MONDO:0010094 "OMIM:272460" MONDO:0021661 "NCIT:C35505" MONDO:0021661 "ICD9:414.00" MONDO:0021661 "SCTID:443502000" @@ -75344,11 +73456,11 @@ HP:0001660 "Fyler:0500" HP:0001660 "ICD-10:Q20.0" HP:0001660 "Fyler:500" MONDO:0009996 "Orphanet:3098" -MONDO:0009996 "ICD10:Q87.1" MONDO:0009996 "OMIM:268250" MONDO:0009996 "UMLS:C1849382" MONDO:0009996 "MESH:C537611" MONDO:0009996 "GARD:0004705" +MONDO:0009996 "ICD10CM:Q87.1" MONDO:0003361 "NCIT:C5335" MONDO:0003361 "UMLS:C1336007" MONDO:0003361 "DOID:5272" @@ -75358,13 +73470,13 @@ MONDO:0018956 "SCTID:233629001" MONDO:0018956 "OMIM:613071" MONDO:0018956 "UMLS:C0339985" MONDO:0018956 "OMIM:613021" -MONDO:0018956 "ICD10:J47" MONDO:0018956 "OMIM:211400" +MONDO:0018956 "ICD10CM:J47" MONDO:0018609 "Orphanet:441434" MONDO:0018609 "UMLS:CN237645" NCBITaxon:2497574 "GC_ID:1" -MONDO:0011731 "ICD10:E74.3" MONDO:0011731 "MESH:C562602" +MONDO:0011731 "ICD10CM:E74.3" MONDO:0011731 "Orphanet:35710" MONDO:0011731 "MedDRA:10066388" MONDO:0011731 "GARD:0006521" @@ -75376,12 +73488,12 @@ MONDO:0010961 "OMIM:600955" MONDO:0010961 "DOID:0111698" MONDO:0010961 "UMLS:C4302878" MONDO:0010961 "MESH:C563423" -MONDO:0010961 "ICD10:E66.8" +MONDO:0010961 "ICD10CM:E66.8" MONDO:0010961 "SCTID:722053001" MONDO:0010961 "UMLS:C1833053" +MONDO:0017893 "ICD10CM:C92.0" MONDO:0017893 "UMLS:CN203946" MONDO:0017893 "SCTID:764940002" -MONDO:0017893 "ICD10:C92.0" MONDO:0017893 "OMIM:601626" MONDO:0017893 "Orphanet:319465" HP:0011110 "UMLS:C0040425" @@ -75401,8 +73513,8 @@ MONDO:0013325 "OMIM:613612" MONDO:0013325 "UMLS:C3150876" MONDO:0013325 "GARD:0001173" MONDO:0013325 "DOID:0070261" -MONDO:0013325 "ICD10:E77.8" MONDO:0013325 "Orphanet:263487" +MONDO:0013325 "ICD10CM:E77.8" MONDO:0013325 "GARD:0012348" MONDO:0013325 "SCTID:721100009" MONDO:0000925 "DOID:10032" @@ -75418,8 +73530,8 @@ MONDO:0032690 "OMIM:618346" MONDO:0015616 "Orphanet:165655" MONDO:0015616 "UMLS:CN199992" MONDO:0016827 "Orphanet:2601" -MONDO:0016827 "ICD10:G71.8" MONDO:0016827 "UMLS:CN230273" +MONDO:0016827 "ICD10CM:G71.8" MONDO:0002048 "DOID:1587" MONDO:0002048 "NCIT:C3991" MONDO:0002048 "GARD:0006768" @@ -75474,12 +73586,11 @@ CL:0000221 "FMA:72549" MONDO:0015839 "SCTID:22504001" MONDO:0015839 "Orphanet:180122" MONDO:0015839 "MedDRA:10062606" -MONDO:0015839 "ICD10:Q51.2" +MONDO:0015839 "ICD10CM:Q51.2" MONDO:0006865 "GARD:0005736" MONDO:0006865 "NCIT:C34637" MONDO:0006865 "MESH:D005892" MONDO:0006865 "EFO:1001058" -MONDO:0006865 "ICD10:A69.1" MONDO:0006865 "SCTID:186963008" MONDO:0006865 "ICD9:101" MONDO:0006865 "UMLS:C0017575" @@ -75487,7 +73598,6 @@ MONDO:0006865 "DOID:13924" MONDO:0004929 "ICD9:376.31" MONDO:0004929 "SCTID:89907009" MONDO:0004929 "UMLS:C0155267" -MONDO:0004929 "ICD10:H05.24" MONDO:0004929 "DOID:9945" NCBITaxon:11039 "GC_ID:1" MONDO:0018041 "Orphanet:331244" @@ -75499,25 +73609,25 @@ MONDO:0005290 "HP:0003201" MONDO:0005290 "MESH:D012206" MONDO:0005290 "ICD9:728.88" MONDO:0017485 "Orphanet:295067" -MONDO:0017485 "ICD10:Q72.4" +MONDO:0017485 "ICD10CM:Q72.4" MONDO:0001318 "SCTID:386211005" MONDO:0001318 "ICD9:536.8" MONDO:0001318 "SCTID:150541000119104" MONDO:0001318 "ICD9:306.4" MONDO:0001318 "ICD9:536.9" MONDO:0001318 "DOID:1159" -MONDO:0011968 "ICD10:G71.0" MONDO:0011968 "Orphanet:62" MONDO:0011968 "SCTID:715340002" MONDO:0011968 "OMIM:608099" MONDO:0011968 "NCIT:C142081" MONDO:0011968 "GARD:0000438" +MONDO:0011968 "ICD10CM:G71.0" MONDO:0011968 "DOID:0110278" MONDO:0017314 "Orphanet:286" MONDO:0017314 "OMIM:130050" MONDO:0017314 "NCIT:C125699" +MONDO:0017314 "ICD10CM:Q79.6" MONDO:0017314 "SCTID:17025000" -MONDO:0017314 "ICD10:Q79.6" MONDO:0017314 "GARD:0002082" MONDO:0013221 "UMLS:C2750077" MONDO:0013221 "OMIM:613318" @@ -75528,7 +73638,6 @@ NCBITaxon:471472 "GC_ID:11" MONDO:0022715 "SCTID:253186001" MONDO:0022715 "OMIM:118420" MONDO:0022715 "GARD:0009233" -MONDO:0009428 "ICD10:E83.3" MONDO:0009428 "MESH:C562440" MONDO:0009428 "OMIM:241510" MONDO:0009428 "GARD:0008735" @@ -75537,6 +73646,7 @@ MONDO:0009428 "DOID:0110915" MONDO:0009428 "UMLS:C0220743" MONDO:0009428 "SCTID:30174008" MONDO:0009428 "Orphanet:436" +MONDO:0009428 "ICD10CM:E83.3" MONDO:0014037 "DOID:0070180" MONDO:0014037 "UMLS:C3554453" MONDO:0014037 "OMIM:615081" @@ -75546,15 +73656,14 @@ MONDO:0033493 "DOID:0080280" MONDO:0016083 "MESH:C537065" MONDO:0016083 "GARD:0002346" MONDO:0016083 "UMLS:C2931411" -MONDO:0016083 "ICD10:L60.8" +MONDO:0016083 "ICD10CM:L60.8" MONDO:0016083 "Orphanet:2045" HP:0004431 "SNOMEDCT_US:24743004" HP:0004431 "UMLS:C0272242" HP:0010929 "UMLS:C4023646" MONDO:0017672 "Orphanet:307837" -MONDO:0017672 "ICD10:Q82.8" +MONDO:0017672 "ICD10CM:Q82.8" NCBITaxon:147387 "GC_ID:1" -MONDO:0018755 "ICD10:T63.2" MONDO:0018755 "Orphanet:466677" MONDO:0018755 "UMLS:CN242103" MONDO:0018755 "SCTID:217670007" @@ -75576,19 +73685,19 @@ MONDO:0014662 "OMIM:616488" MONDO:0014662 "Orphanet:478664" MONDO:0014662 "DOID:0070153" MONDO:0007352 "UMLS:C1852759" +MONDO:0007352 "ICD10CM:Q60.4" MONDO:0007352 "SCTID:446449009" MONDO:0007352 "MESH:C537168" MONDO:0007352 "NCIT:C123230" MONDO:0007352 "GARD:0004106" MONDO:0007352 "Orphanet:1475" MONDO:0007352 "DOID:0090006" -MONDO:0007352 "ICD10:Q60.4" MONDO:0007352 "ICD9:759.89" MONDO:0007352 "OMIM:120330" MONDO:0008416 "MESH:C537526" MONDO:0008416 "ICD9:757.39" -MONDO:0008416 "ICD10:Q82.8" MONDO:0008416 "SCTID:239076000" +MONDO:0008416 "ICD10CM:Q82.8" MONDO:0008416 "OMIM:181600" MONDO:0008416 "Orphanet:384" MONDO:0008416 "GARD:0008517" @@ -75606,17 +73715,17 @@ FOODON:03430130 "SUBSET_SIREN:F5105" MONDO:0004107 "NCIT:C7296" MONDO:0004107 "DOID:710" MONDO:0004107 "UMLS:C1336065" -MONDO:0016270 "ICD10:C54.2" -MONDO:0016270 "ICD10:C54.0" -MONDO:0016270 "ICD10:C54.3" -MONDO:0016270 "ICD10:C54.1" +MONDO:0016270 "ICD10CM:C54.2" +MONDO:0016270 "ICD10CM:C54.8" MONDO:0016270 "Orphanet:213736" -MONDO:0016270 "ICD10:C54.8" +MONDO:0016270 "ICD10CM:C54.3" +MONDO:0016270 "ICD10CM:C54.0" MONDO:0016270 "UMLS:CN201059" +MONDO:0016270 "ICD10CM:C54.1" MONDO:0014729 "Orphanet:459056" MONDO:0014729 "OMIM:616680" +MONDO:0014729 "ICD10CM:G11.4" MONDO:0014729 "DOID:0110820" -MONDO:0014729 "ICD10:G11.4" MONDO:0014729 "UMLS:C4225250" MONDO:0014729 "EFO:0009018" MONDO:0020269 "Orphanet:98699" @@ -75632,11 +73741,10 @@ MONDO:0009294 "Orphanet:369" MONDO:0009294 "UMLS:C0017925" MONDO:0009294 "OMIM:232700" MONDO:0009294 "DOID:2754" -MONDO:0009294 "ICD10:E74.0" +MONDO:0009294 "ICD10CM:E74.0" MONDO:0009294 "SCTID:29291001" MONDO:0009294 "NCIT:C126875" MONDO:0009294 "GARD:0006529" -MONDO:0009294 "ICD10:E74.09" MONDO:0009294 "MedDRA:10053240" MONDO:0009294 "MESH:D006013" MONDO:0015890 "Orphanet:181387" @@ -75646,14 +73754,14 @@ MONDO:0002194 "DOID:2071" MONDO:0002194 "UMLS:C1336982" MONDO:0002194 "NCIT:C6376" MONDO:0008097 "DOID:0111530" +MONDO:0008097 "ICD10CM:Q85.8" MONDO:0008097 "OMIM:163200" MONDO:0008097 "GARD:0010291" MONDO:0008097 "NCIT:C4678" MONDO:0008097 "Orphanet:2612" -MONDO:0008097 "ICD10:Q85.8" MONDO:0011146 "UMLS:C0265449" MONDO:0011146 "NCIT:C75458" -MONDO:0011146 "ICD10:Q99.8" +MONDO:0011146 "ICD10CM:Q99.8" MONDO:0011146 "OMIM:601803" MONDO:0011146 "GARD:0008421" MONDO:0011146 "SCTID:9527009" @@ -75666,18 +73774,20 @@ MONDO:0003140 "NCIT:C35800" MONDO:0003140 "ICD9:583.89" MONDO:0003140 "DOID:4784" MONDO:0005570 "MESH:D006402" +MONDO:0005570 "ICD10CM:D50-D89" MONDO:0005570 "SCTID:414022008" MONDO:0005570 "GTR:AN1320635" MONDO:0005570 "UMLS:C0018939" MONDO:0005570 "ICD9:289.8" MONDO:0005570 "UMLS:CN882913" +MONDO:0005570 "ICD10CM:P50-P61" MONDO:0005570 "Orphanet:97992" MONDO:0005570 "NCIT:C26323" MONDO:0005570 "EFO:0005803" MONDO:0005570 "DOID:74" MONDO:0005570 "ICD9:280-289.99" +MONDO:0005570 "ICD10CM:D70-D77" MONDO:0005570 "ICD9:289.9" -MONDO:0005570 "ICD10:D75.9" MONDO:0005570 "UMLS:CN206939" MONDO:0009857 "Orphanet:2856" MONDO:0009857 "GARD:0008435" @@ -75685,11 +73795,10 @@ MONDO:0009857 "ICD9:752.89" MONDO:0009857 "OMIM:261550" MONDO:0009857 "NCIT:C120188" MONDO:0009857 "SCTID:702358005" -MONDO:0009857 "ICD10:Q55.8" MONDO:0009857 "DOID:0050791" MONDO:0009857 "UMLS:C1849930" MONDO:0009857 "MESH:C536665" -MONDO:0013717 "ICD10:Q77.2" +MONDO:0009857 "ICD10CM:Q55.8" MONDO:0013717 "OMIM:614376" MONDO:0013717 "UMLS:C3280598" MONDO:0013717 "Orphanet:474" @@ -75703,8 +73812,8 @@ MONDO:0021297 "SCTID:92664001" MONDO:0012548 "GARD:0000302" MONDO:0012548 "UMLS:CN032247" MONDO:0012548 "OMIM:610738" -MONDO:0012548 "ICD10:D70" MONDO:0012548 "Orphanet:99749" +MONDO:0012548 "ICD10CM:D70" MONDO:0007859 "Orphanet:369999" MONDO:0007859 "Orphanet:50942" MONDO:0007859 "GARD:0009172" @@ -75712,7 +73821,6 @@ MONDO:0007859 "Orphanet:370002" MONDO:0007859 "MESH:C536162" MONDO:0007859 "OMIM:148700" MONDO:0001182 "SCTID:1794009" -MONDO:0001182 "ICD10:H18.22" MONDO:0001182 "DOID:11033" MONDO:0001182 "ICD9:371.21" MONDO:0001182 "UMLS:C0155109" @@ -75725,7 +73833,7 @@ MONDO:0016829 "SCTID:63684002" MONDO:0016829 "ICD9:359.89" MONDO:0016829 "UMLS:C0266833" MONDO:0016829 "OMIM:155310" -MONDO:0016829 "ICD10:K56.0" +MONDO:0016829 "ICD10CM:K56.0" MONDO:0016829 "GARD:0003443" MONDO:0016829 "UMLS:C1835084" MONDO:0006972 "DOID:4374" @@ -75736,7 +73844,6 @@ MONDO:0006972 "UMLS:C0037120" MONDO:0019282 "UMLS:CN227611" MONDO:0019282 "Orphanet:79367" MONDO:0000381 "DOID:0050620" -MONDO:0005867 "ICD10:J15.7" MONDO:0005867 "SCTID:46970008" MONDO:0005867 "ICD9:483.0" MONDO:0005867 "EFO:0007387" @@ -75751,7 +73858,7 @@ MONDO:0023868 "UMLS:C0730308" MONDO:0023868 "SCTID:312941005" MONDO:0023868 "GARD:0012041" MONDO:0030893 "OMIM:619147" -MONDO:0018475 "ICD10:G31.8" +MONDO:0018475 "ICD10CM:G31.8" MONDO:0018475 "Orphanet:412066" MONDO:0018475 "UMLS:CN237461" MONDO:0022699 "GARD:0010448" @@ -75764,7 +73871,7 @@ MONDO:0013989 "DOID:0080439" MONDO:0013989 "OMIM:614959" MONDO:0013989 "UMLS:C3554195" MONDO:0013989 "Orphanet:293181" -MONDO:0020505 "ICD10:E75.2" +MONDO:0020505 "ICD10CM:E75.2" MONDO:0020505 "UMLS:CN207401" MONDO:0020505 "UMLS:C4275006" MONDO:0020505 "SCTID:715794009" @@ -75772,7 +73879,6 @@ MONDO:0020505 "Orphanet:99852" MONDO:0013191 "UMLS:C2750475" MONDO:0013191 "MESH:C567687" MONDO:0013191 "OMIM:613237" -MONDO:0013191 "ICD10:N04.1" MONDO:0013191 "DOID:0111130" MONDO:0044766 "GTR:AN0100577" MONDO:0044766 "UMLS:CN035813" @@ -75800,51 +73906,50 @@ MONDO:0014593 "DOID:0080451" MONDO:0014593 "OMIM:616339" MONDO:0014593 "UMLS:C4225361" MONDO:0012977 "MESH:C567213" -MONDO:0012977 "ICD10:H90.3" MONDO:0012977 "UMLS:CN674504" MONDO:0012977 "OMIM:612645" MONDO:0012977 "DOID:0110476" MONDO:0012977 "GTR:AN1075764" MONDO:0012977 "UMLS:C2675235" MONDO:0023140 "GARD:0002287" +MONDO:0020726 "ICD10CM:Q61.5" MONDO:0020726 "UMLS:CN206321" MONDO:0020726 "GARD:0007002" MONDO:0020726 "OMIM:174000" MONDO:0020726 "Orphanet:88949" MONDO:0020726 "Orphanet:34149" -MONDO:0020726 "ICD10:Q61.5" MONDO:0020726 "NCIT:C123171" MONDO:0020726 "UMLS:C1868139" MONDO:0011911 "UMLS:C1843042" MONDO:0011911 "MESH:C564332" MONDO:0011911 "OMIM:607812" MONDO:0011911 "SCTID:725100001" +MONDO:0011911 "ICD10CM:Q75.8" MONDO:0011911 "Orphanet:50814" -MONDO:0011911 "ICD10:Q75.8" MONDO:0011911 "DOID:0070307" MONDO:0019219 "UMLS:CN227586" MONDO:0019219 "Orphanet:79169" -MONDO:0016576 "DOID:0090020" -MONDO:0016576 "SCTID:81208006" -MONDO:0016576 "ICD10:Q71.6" -MONDO:0016576 "ICD10:Q72.7" -MONDO:0016576 "UMLS:C0265554" -MONDO:0016576 "OMIM:606708" -MONDO:0016576 "GARD:0006319" -MONDO:0016576 "OMIM:183600" MONDO:0016576 "OMIM:246560" -MONDO:0016576 "NCIT:C75000" +MONDO:0016576 "ICD10CM:Q72.7" MONDO:0016576 "OMIM:225300" -MONDO:0016576 "OMIMPS:183600" +MONDO:0016576 "ICD10CM:Q71.6" +MONDO:0016576 "OMIM:606708" +MONDO:0016576 "OMIM:313350" MONDO:0016576 "Orphanet:2440" +MONDO:0016576 "GARD:0006319" +MONDO:0016576 "SCTID:81208006" MONDO:0016576 "OMIM:605289" -MONDO:0016576 "OMIM:313350" +MONDO:0016576 "NCIT:C75000" +MONDO:0016576 "UMLS:C0265554" +MONDO:0016576 "OMIM:183600" +MONDO:0016576 "DOID:0090020" +MONDO:0016576 "OMIMPS:183600" MONDO:0013698 "OMIM:614335" MONDO:0013698 "DOID:0111598" MONDO:0013698 "UMLS:C3280526" MONDO:0013698 "Orphanet:1146" HP:0008047 "UMLS:C4024752" -MONDO:0017522 "ICD10:Q74.8" +MONDO:0017522 "ICD10CM:Q74.8" MONDO:0017522 "Orphanet:295142" MONDO:0045044 "UMLS:C0263976" MONDO:0045044 "SCTID:60492000" @@ -75859,10 +73964,10 @@ MONDO:0011042 "OMIM:601346" MONDO:0011042 "UMLS:C1832443" MONDO:0011042 "Orphanet:137862" MONDO:0013885 "SCTID:763795006" +MONDO:0013885 "ICD10CM:Q87.3" MONDO:0013885 "UMLS:C3553660" MONDO:0013885 "Orphanet:420179" MONDO:0013885 "OMIM:614753" -MONDO:0013885 "ICD10:Q87.3" MONDO:0009801 "GARD:0004136" MONDO:0009801 "Orphanet:2769" MONDO:0009801 "OMIM:259250" @@ -75870,7 +73975,6 @@ MONDO:0009801 "UMLS:C1850186" MONDO:0009801 "MESH:C564923" MONDO:0016209 "Orphanet:209973" MONDO:0016209 "UMLS:CN226880" -MONDO:0001371 "ICD10:E46" MONDO:0001371 "ICD9:263.9" MONDO:0001371 "SCTID:238107002" MONDO:0001371 "NCIT:C34952" @@ -75888,7 +73992,6 @@ MONDO:0012483 "OMIM:610381" MONDO:0012483 "MESH:C563671" MONDO:0012483 "DOID:0111018" MONDO:0012483 "Orphanet:1872" -MONDO:0019952 "ICD10:G71.2" MONDO:0019952 "UMLS:C0027127" MONDO:0019952 "DOID:0080100" MONDO:0019952 "GARD:0005898" @@ -75896,7 +73999,7 @@ MONDO:0019952 "Orphanet:97245" MONDO:0019952 "MedDRA:10062547" MONDO:0019952 "OMIM:255300" MONDO:0020434 "Orphanet:99103" -MONDO:0020434 "ICD10:Q21.1" +MONDO:0020434 "ICD10CM:Q21.1" MONDO:0020434 "MedDRA:10031302" MONDO:0020434 "GARD:0005865" MONDO:0020434 "MedDRA:10031303" @@ -75909,8 +74012,8 @@ MONDO:0042971 "GARD:0002669" MONDO:0042971 "GARD:0002670" MONDO:0042971 "UMLS:C4275250" MONDO:0042971 "SCTID:715337002" -MONDO:0018067 "ICD10:Q92.7" MONDO:0018067 "SCTID:66651005" +MONDO:0018067 "ICD10CM:Q92.7" MONDO:0018067 "MESH:D057885" MONDO:0018067 "ICD9:758.89" MONDO:0018067 "NCIT:C85204" @@ -75934,7 +74037,6 @@ MONDO:0005717 "MESH:D004474" MONDO:0005717 "DOID:8771" MONDO:0005717 "UMLS:C0013570" MONDO:0005717 "SCTID:74050005" -MONDO:0005717 "ICD10:B08.02" MONDO:0005717 "ICD9:051.2" MONDO:0015540 "ICD9:288.8" MONDO:0015540 "NCIT:C34792" @@ -75942,7 +74044,6 @@ MONDO:0015540 "OMIM:603553" MONDO:0015540 "OMIM:608898" MONDO:0015540 "OMIM:267700" MONDO:0015540 "OMIM:613101" -MONDO:0015540 "ICD10:D76.1" MONDO:0015540 "Orphanet:158032" MONDO:0015540 "DOID:0050120" MONDO:0015540 "UMLS:C3887558" @@ -75956,8 +74057,8 @@ MONDO:0015540 "Orphanet:540" MONDO:0009459 "OMIM:243000" MONDO:0009459 "Orphanet:88642" MONDO:0009459 "GARD:0012267" +MONDO:0009459 "ICD10CM:G60.8" MONDO:0009459 "Orphanet:970" -MONDO:0009459 "ICD10:G60.8" MONDO:0009459 "MESH:D009477" MONDO:0009459 "UMLS:C1855739" MONDO:0004630 "ICD9:293.89" @@ -75971,16 +74072,16 @@ MONDO:0003433 "ICDO:8322/0" MONDO:0003433 "UMLS:C0334321" MONDO:0003433 "NCIT:C4155" MONDO:0002410 "DOID:2743" +MONDO:0002410 "ICD10CM:N28.85" MONDO:0002410 "UMLS:C0156254" MONDO:0002410 "SCTID:37779008" MONDO:0002410 "ICD9:590.3" -MONDO:0002410 "ICD10:N28.85" MONDO:0019451 "UMLS:C0474856" MONDO:0019451 "NCIT:C3179" MONDO:0019451 "Orphanet:86829" MONDO:0019451 "DOID:0080187" MONDO:0019451 "SCTID:188734009" -MONDO:0019451 "ICD10:D47.1" +MONDO:0019451 "ICD10CM:D47.1" MONDO:0019451 "MESH:D015467" MONDO:0019451 "ICDO:9963/3" MONDO:0019451 "ONCOTREE:CNL" @@ -75997,7 +74098,7 @@ MONDO:0011538 "OMIM:605321" MONDO:0011538 "UMLS:C1854405" MONDO:0011538 "MESH:C565340" MONDO:0018254 "Orphanet:370015" -MONDO:0018254 "ICD10:Q77.8" +MONDO:0018254 "ICD10CM:Q77.8" MONDO:0015868 "Orphanet:180250" MONDO:0005375 "EFO:0004252" MONDO:0005375 "SCTID:126680004" @@ -76013,7 +74114,6 @@ MONDO:0009131 "DOID:11589" MONDO:0009131 "MESH:D004402" MONDO:0009131 "Orphanet:1764" MONDO:0009131 "SCTID:29159009" -MONDO:0009131 "ICD10:G90.1" MONDO:0009131 "NCIT:C84706" MONDO:0009131 "OMIM:223900" MONDO:0009131 "GARD:0007581" @@ -76046,29 +74146,28 @@ MONDO:0001651 "UMLS:C0349551" MONDO:0001651 "SCTID:276860003" MONDO:0001651 "NCIT:C4643" MONDO:0007554 "SCTID:90496008" -MONDO:0007554 "ICD10:Q81.0" MONDO:0007554 "ICD9:757.39" MONDO:0007554 "OMIM:131900" +MONDO:0007554 "ICD10CM:Q81.0" MONDO:0007554 "GARD:0002147" MONDO:0007554 "Orphanet:79399" MONDO:0010605 "OMIM:306930" MONDO:0010779 "OMIM:221745" +MONDO:0010779 "ICD10CM:H90.3" MONDO:0010779 "GARD:0001709" MONDO:0010779 "DOID:0111751" -MONDO:0010779 "ICD10:H90.3" MONDO:0010779 "Orphanet:90641" MONDO:0010779 "OMIM:500008" MONDO:0012979 "UMLS:C2675228" MONDO:0012979 "MESH:C567211" MONDO:0012979 "DOID:0110601" MONDO:0012979 "OMIM:612650" -MONDO:0012979 "ICD10:Q34.8" MONDO:0004363 "SCTID:276829003" MONDO:0004363 "UMLS:C0559185" MONDO:0004363 "NCIT:C27183" MONDO:0004363 "DOID:7806" -MONDO:0007762 "ICD10:E78.3" MONDO:0007762 "MedDRA:10060755" +MONDO:0007762 "ICD10CM:E78.3" MONDO:0007762 "DOID:1171" MONDO:0007762 "SCTID:34349009" MONDO:0007762 "OMIM:144650" @@ -76082,8 +74181,8 @@ MONDO:0031230 "OMIMPS:252011" MONDO:0013317 "UMLS:C3150851" MONDO:0013317 "OMIM:613600" MONDO:0013317 "SCTID:718104007" +MONDO:0013317 "ICD10CM:I49.8" MONDO:0013317 "Orphanet:51084" -MONDO:0013317 "ICD10:I49.8" HP:0001894 "UMLS:C0857460" HP:0001894 "MSH:D013922" HP:0001894 "SNOMEDCT_US:415115007" @@ -76105,12 +74204,12 @@ MONDO:0011359 "SCTID:715427008" MONDO:0011359 "GARD:0005539" MONDO:0011359 "MESH:C566345" MONDO:0011359 "UMLS:C1863616" -MONDO:0011359 "ICD10:Q75.8" +MONDO:0011359 "ICD10CM:Q75.8" MONDO:0011359 "DOID:0060342" MONDO:0003049 "NCIT:C5238" MONDO:0003049 "UMLS:C1335174" MONDO:0003049 "DOID:4555" -MONDO:0007983 "ICD10:Q78.5" +MONDO:0007983 "ICD10CM:Q78.5" MONDO:0007983 "MESH:C537352" MONDO:0007983 "GARD:0007029" MONDO:0007983 "SCTID:29248006" @@ -76121,14 +74220,14 @@ MONDO:0032753 "OMIM:618438" MONDO:0019085 "SCTID:317349009" MONDO:0019085 "Orphanet:70476" MONDO:0019085 "UMLS:C0022577" +MONDO:0019085 "ICD10CM:H16.2" MONDO:0019085 "GARD:0007854" -MONDO:0019085 "ICD10:H16.2" MONDO:0014430 "UMLS:C4014864" MONDO:0014430 "OMIM:615979" HP:0002034 "UMLS:C0266210" HP:0002034 "SNOMEDCT_US:86993003" +MONDO:0020436 "ICD10CM:Q21.1" MONDO:0020436 "GARD:0010696" -MONDO:0020436 "ICD10:Q21.1" MONDO:0020436 "Orphanet:99105" MONDO:0020436 "MESH:C548009" MONDO:0020436 "SCTID:95268002" @@ -76156,30 +74255,23 @@ MONDO:0002729 "NCIT:C8715" MONDO:0033485 "OMIM:617895" MONDO:0033485 "DOID:0080295" MONDO:0033485 "UMLS:CN842245" -MONDO:0016075 "ICD10:B74.0" -MONDO:0016075 "ICD10:B74.2" +MONDO:0016075 "ICD10CM:B74" MONDO:0016075 "UMLS:C0016085" -MONDO:0016075 "ICD10:B74.1" +MONDO:0016075 "ICD10CM:B74.4" MONDO:0016075 "NCIT:C34611" +MONDO:0016075 "ICD10CM:B74.3" MONDO:0016075 "DOID:1080" MONDO:0016075 "Orphanet:2034" -MONDO:0016075 "ICD10:B74.8" -MONDO:0016075 "ICD10:B74" MONDO:0016075 "SCTID:105706003" MONDO:0016075 "MedDRA:10016674" -MONDO:0016075 "ICD10:B74.9" MONDO:0016075 "ICD9:125.9" MONDO:0016075 "MESH:D005368" -MONDO:0016075 "ICD10:B74.4" -MONDO:0016075 "ICD10:B74.3" MONDO:0017158 "Orphanet:275844" -MONDO:0018104 "OMIM:259600" -MONDO:0018104 "OMIM:277950" +MONDO:0018104 "ICD10CM:M89.5" MONDO:0018104 "Orphanet:3460" -MONDO:0018104 "ICD10:M89.5" MONDO:0017815 "Orphanet:314697" -MONDO:0017815 "ICD10:G93.0" MONDO:0017815 "UMLS:C0151860" +MONDO:0017815 "ICD10CM:G93.0" MONDO:0017815 "SCTID:38837006" MONDO:0019104 "MESH:C537234" MONDO:0019104 "NCIT:C113397" @@ -76200,7 +74292,6 @@ MONDO:0012921 "UMLS:C2675864" MONDO:0012921 "MESH:C567284" MONDO:0012921 "OMIM:612522" MONDO:0012921 "DOID:0110759" -MONDO:0012921 "ICD10:E10" MONDO:0002916 "UMLS:C1332612" MONDO:0002916 "DOID:4209" MONDO:0002916 "NCIT:C5295" @@ -76224,21 +74315,20 @@ MONDO:0000874 "DOID:0080148" MONDO:0019087 "UMLS:C0740277" MONDO:0019087 "MedDRA:10004593" MONDO:0019087 "Orphanet:70567" -MONDO:0019087 "ICD10:C22.1" MONDO:0019087 "ONCOTREE:CHOL" MONDO:0019087 "SCTID:312104005" -MONDO:0019087 "ICD10:C24.0" -MONDO:0019087 "ICD10:C24.9" MONDO:0019087 "MedDRA:10008593" MONDO:0019087 "EFO:0005221" MONDO:0019087 "NCIT:C4436" MONDO:0019087 "OMIM:615619" +MONDO:0019087 "ICD10CM:C24.0" +MONDO:0019087 "ICD10CM:C24.9" MONDO:0019087 "DOID:4947" MONDO:0019087 "MESH:D018281" MONDO:0019087 "ICDO:8160/3" MONDO:0019087 "GARD:0009304" MONDO:0019087 "UMLS:C0206698" -MONDO:0019087 "ICD10:C24.8" +MONDO:0019087 "ICD10CM:C24.8" MONDO:0008612 "OMIM:191100" MONDO:0008612 "GARD:0005380" MONDO:0008612 "Orphanet:805" @@ -76254,14 +74344,13 @@ MONDO:0007415 "Orphanet:254902" MONDO:0007415 "OMIM:124000" MONDO:0007415 "GARD:0008295" CL:0002199 "FMA:69084" +MONDO:0017524 "ICD10CM:Q69.1" MONDO:0017524 "Orphanet:295146" -MONDO:0017524 "ICD10:Q69.1" MONDO:0017524 "UMLS:CN203255" MONDO:0049222 "OMIM:301013" +MONDO:0015387 "ICD10CM:H04.6" MONDO:0015387 "Orphanet:141083" -MONDO:0015387 "ICD10:H04.6" MONDO:0006614 "ICD9:694.1" -MONDO:0006614 "ICD10:L13.1" MONDO:0006614 "Orphanet:48377" MONDO:0006614 "MedDRA:10042342" MONDO:0006614 "SCTID:25147002" @@ -76273,7 +74362,7 @@ MONDO:0009795 "GARD:0010520" MONDO:0009795 "SCTID:718680001" MONDO:0009795 "Orphanet:141007" MONDO:0009795 "MESH:C557818" -MONDO:0009795 "ICD10:Q87.0" +MONDO:0009795 "ICD10CM:Q87.0" MONDO:0009795 "UMLS:C0796102" MONDO:0009795 "DOID:0060382" MONDO:0042963 "MEDGEN:75782" @@ -76283,7 +74372,7 @@ MONDO:0042963 "NCIT:C85224" MONDO:0042963 "SCTID:191384005" MONDO:0042963 "UMLS:C0272414" MONDO:0018098 "Orphanet:34517" -MONDO:0018098 "ICD10:G71.0" +MONDO:0018098 "ICD10CM:G71.0" MONDO:0018098 "GARD:0012529" MONDO:0018098 "UMLS:C3148763" MONDO:0018098 "DOID:0110305" @@ -76292,12 +74381,11 @@ MONDO:0032942 "OMIM:618828" MONDO:0015532 "SCTID:110980006" MONDO:0015532 "UMLS:C0347404" MONDO:0015532 "Orphanet:157991" -MONDO:0015532 "ICD10:D76.3" +MONDO:0015532 "ICD10CM:D76.3" MONDO:0019274 "Orphanet:79359" MONDO:0019274 "UMLS:CN227609" MONDO:0002226 "ICD9:016.60" MONDO:0002226 "UMLS:C0275932" -MONDO:0002226 "ICD10:A18.17" MONDO:0002226 "ICD9:016.6" MONDO:0002226 "SCTID:84194006" MONDO:0002226 "DOID:2148" @@ -76305,7 +74393,6 @@ MONDO:0001456 "UMLS:C0154854" MONDO:0001456 "ICD9:362.61" MONDO:0001456 "SCTID:69134001" MONDO:0001456 "DOID:12166" -MONDO:0001456 "ICD10:H35.43" MONDO:0000065 "OMIMPS:603933" MONDO:0000065 "UMLS:CN357508" NCBITaxon:53466 "GC_ID:1" @@ -76316,7 +74403,7 @@ MONDO:0002402 "NCIT:C4090" MONDO:0016765 "Orphanet:254346" MONDO:0016765 "UMLS:C4304579" MONDO:0016765 "GARD:0010991" -MONDO:0016765 "ICD10:Q93.5" +MONDO:0016765 "ICD10CM:Q93.5" MONDO:0016765 "SCTID:719597005" MONDO:0016765 "UMLS:CN202023" MONDO:0000241 "EFO:0007226" @@ -76334,33 +74421,33 @@ MONDO:0006144 "UMLS:C1516437" MONDO:0006144 "NCIT:C40236" MONDO:0006144 "EFO:1000173" MONDO:0018965 "OMIM:104200" -MONDO:0018965 "ICD10:Q87.8" MONDO:0018965 "MedDRA:10001843" MONDO:0018965 "DOID:10983" MONDO:0018965 "NCIT:C34842" MONDO:0018965 "OMIMPS:301050" MONDO:0018965 "OMIM:203780" -MONDO:0018965 "ICD10:Q87.81" +MONDO:0018965 "ICD10CM:Q87.8" +MONDO:0018965 "ICD10CM:Q87.81" MONDO:0018965 "UMLS:C1567741" MONDO:0018965 "Orphanet:63" MONDO:0018965 "OMIM:301050" MONDO:0017711 "UMLS:C0268241" MONDO:0017711 "OMIM:614338" MONDO:0017711 "ICD9:277.89" +MONDO:0017711 "ICD10CM:K90.3" MONDO:0017711 "Orphanet:309108" MONDO:0017711 "SCTID:69478001" -MONDO:0017711 "ICD10:K90.3" +MONDO:0008729 "Orphanet:90795" MONDO:0008729 "MESH:C535978" MONDO:0008729 "GARD:0005658" -MONDO:0008729 "NCIT:C131085" -MONDO:0008729 "ICD9:277.6" MONDO:0008729 "Orphanet:418" -MONDO:0008729 "Orphanet:90795" -MONDO:0008729 "OMIM:202010" MONDO:0008729 "UMLS:C0268292" -MONDO:0008729 "SCTID:124214007" MONDO:0008729 "MedDRA:10000002" -MONDO:0008729 "ICD10:E25.0" +MONDO:0008729 "ICD10CM:E25.0" +MONDO:0008729 "OMIM:202010" +MONDO:0008729 "NCIT:C131085" +MONDO:0008729 "ICD9:277.6" +MONDO:0008729 "SCTID:124214007" MONDO:0005602 "SCTID:716077006" MONDO:0005602 "EFO:0006463" MONDO:0005602 "DOID:5567" @@ -76377,18 +74464,14 @@ MONDO:0003635 "NCIT:C40369" MONDO:0000934 "DOID:10070" MONDO:0000934 "UMLS:C1334370" MONDO:0000934 "NCIT:C6027" -MONDO:0002508 "ICD10:K05.00" MONDO:0002508 "DOID:3087" MONDO:0002508 "ICD9:523.10" -MONDO:0002508 "ICD10:K05.1" MONDO:0002508 "ICD9:523.1" MONDO:0002508 "SCTID:66383009" MONDO:0002508 "UMLS:C0017574" MONDO:0002508 "NCIT:C34636" MONDO:0002508 "ICD9:523.0" MONDO:0002508 "MESH:D005891" -MONDO:0002508 "ICD10:K05.0" -MONDO:0002508 "ICD10:K05.10" MONDO:0002897 "NCIT:C128413" MONDO:0002897 "SCTID:240557004" MONDO:0002897 "UMLS:C0343676" @@ -76410,7 +74493,7 @@ MONDO:0008916 "MESH:C565881" MONDO:0008916 "UMLS:C1859328" MONDO:0012579 "Orphanet:747" MONDO:0012579 "OMIM:610910" -MONDO:0012579 "ICD10:J84.0" +MONDO:0012579 "ICD10CM:J84.0" MONDO:0012579 "MESH:C567049" MONDO:0012579 "GARD:0007499" MONDO:0012579 "SCTID:707443007" @@ -76423,7 +74506,6 @@ MONDO:0024386 "UMLS:C1707407" MONDO:0024386 "ONCOTREE:CCLC" MONDO:0024386 "NCIT:C4451" MONDO:0013911 "DOID:0090085" -MONDO:0013911 "ICD10:E23.0" MONDO:0013911 "UMLS:C3553842" MONDO:0013911 "OMIM:614838" NCBITaxon:37124 "GC_ID:1" @@ -76432,57 +74514,53 @@ MONDO:0000327 "DOID:0050456" MONDO:0000327 "EFO:1001281" MONDO:0000327 "SCTID:15845006" MONDO:0000327 "UMLS:C0085568" -MONDO:0000327 "ICD10:A31.1" MONDO:0000327 "MESH:D054312" +NCBITaxon:2560074 "GC_ID:1" MONDO:0001885 "UMLS:C2711750" MONDO:0001885 "SCTID:441891001" -MONDO:0001885 "ICD10:N81.12" MONDO:0001885 "DOID:14130" MONDO:0001885 "ICD9:618.02" +MONDO:0001885 "ICD10CM:N81.12" MONDO:0007788 "SCTID:34528009" MONDO:0007788 "OMIM:145750" -NCBITaxon:2560074 "GC_ID:1" -MONDO:0004069 "MESH:D028361" -MONDO:0004069 "Orphanet:68380" -MONDO:0004069 "GARD:0007048" -MONDO:0004069 "DOID:700" +MONDO:0015636 "ICD10CM:B74.8" MONDO:0015636 "SCTID:73328005" MONDO:0015636 "ICD9:125.6" MONDO:0015636 "UMLS:C0012602" MONDO:0015636 "EFO:0007239" MONDO:0015636 "DOID:1082" -MONDO:0015636 "ICD10:B74.8" MONDO:0015636 "GARD:0011908" MONDO:0015636 "MESH:D004184" MONDO:0015636 "Orphanet:166291" +MONDO:0004069 "MESH:D028361" +MONDO:0004069 "Orphanet:68380" +MONDO:0004069 "GARD:0007048" +MONDO:0004069 "DOID:700" MONDO:0009691 "ONCOTREE:MYCF" MONDO:0009691 "OMIM:254400" -MONDO:0009691 "ICD10:C84.0" MONDO:0009691 "SCTID:118618005" +MONDO:0009691 "ICD10CM:C84.0" MONDO:0009691 "UMLS:C0026948" MONDO:0009691 "NCIT:C3246" MONDO:0009691 "ICD9:202.1" MONDO:0009691 "DOID:8691" -MONDO:0009691 "ICD10:C84.00" MONDO:0009691 "GARD:0003863" MONDO:0009691 "ICDO:9700/3" MONDO:0009691 "Orphanet:2584" MONDO:0009691 "MedDRA:10028483" MONDO:0009691 "MESH:D009182" MONDO:0009691 "EFO:1001051" -MONDO:0009344 "ICD10:Q43.1" MONDO:0009344 "GARD:0000584" MONDO:0009344 "SCTID:721223002" MONDO:0009344 "Orphanet:2153" MONDO:0009344 "MESH:C535615" MONDO:0009344 "OMIM:235760" +MONDO:0009344 "ICD10CM:Q43.1" MONDO:0005015 "HP:0000819" -MONDO:0005015 "ICD10:E08-E13" MONDO:0005015 "NCIT:C2985" -MONDO:0005015 "ICD10:E10.E14" +MONDO:0005015 "ICD10CM:E08-E13" MONDO:0005015 "UMLS:C0011847" MONDO:0005015 "UMLS:C0011849" -MONDO:0005015 "ICD10:E11" MONDO:0005015 "EFO:0000400" MONDO:0005015 "DOID:9351" MONDO:0005015 "ICD9:250" @@ -76502,23 +74580,24 @@ MONDO:0020686 "NCIT:C97142" MONDO:0020686 "UMLS:C0001361" MONDO:0011871 "Orphanet:99022" MONDO:0011871 "UMLS:C0268243" -MONDO:0011871 "ICD10:E75.241" +MONDO:0011871 "ICD10CM:E75.2" MONDO:0011871 "OMIM:607616" MONDO:0011871 "DOID:0070112" -MONDO:0011871 "ICD10:E75.2" +MONDO:0011871 "ICD10CM:E75.241" MONDO:0011871 "NCIT:C126866" MONDO:0011871 "Orphanet:77293" MONDO:0011871 "GARD:0010729" MONDO:0011871 "SCTID:39390005" MONDO:0011871 "MESH:D052537" MONDO:0010818 "UMLS:C1838647" -MONDO:0010818 "ICD10:H35.5" MONDO:0010818 "MESH:C563999" MONDO:0010818 "DOID:0110358" MONDO:0010818 "OMIM:600105" MONDO:0010818 "GARD:0010376" MONDO:0020831 "Orphanet:521438" MONDO:0020831 "OMIMPS:617660" +MONDO:0020831 "OMIM:617661" +MONDO:0020831 "OMIM:617660" MONDO:0024573 "GARD:0007229" MONDO:0024573 "DOID:0080326" MONDO:0024573 "SCTID:471885006" @@ -76531,23 +74610,23 @@ MONDO:0011051 "UMLS:C1832435" MONDO:0011051 "OMIM:601356" MONDO:0011051 "MESH:C537598" MONDO:0015166 "Orphanet:102724" -MONDO:0015166 "ICD10:C92.0" +MONDO:0015166 "ICD10CM:C92.0" MONDO:0033650 "OMIM:619059" +MONDO:0016240 "ICD10CM:Q72.8" MONDO:0016240 "MedDRA:10019464" -MONDO:0016240 "ICD10:Q71.8" MONDO:0016240 "Orphanet:2130" MONDO:0016240 "UMLS:C0018987" +MONDO:0016240 "ICD10CM:Q73.8" MONDO:0016240 "SCTID:33076008" -MONDO:0016240 "ICD10:Q72.8" +MONDO:0016240 "ICD10CM:Q71.8" MONDO:0016240 "NCIT:C34674" -MONDO:0016240 "ICD10:Q73.8" MONDO:0012288 "MESH:C535534" MONDO:0012288 "GARD:0010058" MONDO:0012288 "OMIM:609515" MONDO:0012288 "UMLS:C1836074" MONDO:0019757 "OMIM:157170" +MONDO:0019757 "ICD10CM:Q04.2" MONDO:0019757 "OMIM:609637" -MONDO:0019757 "ICD10:Q04.2" MONDO:0019757 "OMIM:610829" MONDO:0019757 "SCTID:253137003" MONDO:0019757 "Orphanet:93925" @@ -76560,7 +74639,6 @@ MONDO:0012923 "GARD:0013389" MONDO:0012923 "UMLS:C2675861" MONDO:0012923 "Orphanet:528" MONDO:0012923 "MESH:C567282" -MONDO:0012923 "ICD10:E88.1" MONDO:0012923 "DOID:0111137" MONDO:0008847 "OMIM:209500" MONDO:0008847 "Orphanet:86819" @@ -76568,16 +74646,16 @@ MONDO:0008847 "MESH:C565924" MONDO:0008847 "SCTID:715963002" MONDO:0008847 "DOID:0060689" MONDO:0008847 "UMLS:C1859592" -MONDO:0008847 "ICD10:L65.8" +MONDO:0008847 "ICD10CM:L65.8" HP:0000159 "UMLS:C2183966" HP:0000549 "UMLS:C1845274" MONDO:0016218 "MedDRA:10018767" MONDO:0016218 "UMLS:C0018378" MONDO:0016218 "Orphanet:2103" MONDO:0016218 "NCIT:C116345" +MONDO:0016218 "ICD10CM:G61.0" MONDO:0016218 "GARD:0006554" MONDO:0016218 "EFO:0007292" -MONDO:0016218 "ICD10:G61.0" MONDO:0016218 "DOID:12842" MONDO:0016218 "MESH:D020275" MONDO:0016218 "SCTID:40956001" @@ -76590,9 +74668,9 @@ MONDO:0001059 "UMLS:C0349532" MONDO:0001059 "SCTID:276811008" MONDO:0001059 "DOID:10540" MONDO:0001059 "NCIT:C4636" -MONDO:0020057 "ICD10:Q99.8" MONDO:0020057 "Orphanet:98154" MONDO:0020057 "SCTID:726402006" +MONDO:0020057 "ICD10CM:Q99.8" MONDO:0032757 "OMIM:618449" MONDO:0000172 "UMLS:CN228400" MONDO:0000172 "OMIMPS:613155" @@ -76601,16 +74679,16 @@ MONDO:0002372 "UMLS:C0280134" MONDO:0002372 "NCIT:C8113" MONDO:0024644 "MESH:D017202" MONDO:0024644 "EFO:1001375" +MONDO:0024644 "ICD10CM:I20-I25" MONDO:0024644 "UMLS:C0151744" MONDO:0024644 "NCIT:C50625" -MONDO:0024644 "ICD10:I20.I25" MONDO:0024644 "SCTID:414545008" CL:0000737 "BTO:0002916" CL:0000737 "CALOHA:TS-2157" CL:0000737 "FMA:86936" MONDO:0044253 "OMIM:221760" MONDO:0017681 "Orphanet:308166" -MONDO:0017681 "ICD10:Q82.8" +MONDO:0017681 "ICD10CM:Q82.8" MONDO:0014632 "UMLS:C4225332" MONDO:0014632 "DOID:0060788" MONDO:0014632 "OMIM:616420" @@ -76629,7 +74707,7 @@ MONDO:0013241 "UMLS:C4304845" MONDO:0013241 "UMLS:C2936793" MONDO:0013241 "Orphanet:211017" MONDO:0013241 "GARD:0004950" -MONDO:0013241 "ICD10:G11.2" +MONDO:0013241 "ICD10CM:G11.2" MONDO:0016405 "UMLS:CN226918" MONDO:0016405 "Orphanet:225710" MONDO:0042965 "ICD9:334.3" @@ -76641,14 +74719,14 @@ CL:0002364 "BTO:0004562" MONDO:0020278 "UMLS:CN207081" MONDO:0020278 "Orphanet:98710" MONDO:0008198 "MESH:C566825" -MONDO:0008198 "ICD10:Q74.0" MONDO:0008198 "UMLS:C1868597" MONDO:0008198 "Orphanet:251290" MONDO:0008198 "OMIM:168550" +MONDO:0008198 "ICD10CM:Q74.0" MONDO:0018263 "ICD9:760.8" -MONDO:0018263 "ICD10:Q86.8" MONDO:0018263 "UMLS:C0432370" MONDO:0018263 "Orphanet:370076" +MONDO:0018263 "ICD10CM:Q86.8" MONDO:0018263 "SCTID:254249002" MONDO:0018263 "UMLS:CN204839" MONDO:0024189 "OMIMPS:616263" @@ -76659,9 +74737,8 @@ MONDO:0004435 "DOID:8022" MONDO:0004435 "NCIT:C5832" MONDO:0005993 "EFO:0007521" MONDO:0005993 "ICD9:131.00" -MONDO:0005993 "ICD10:A59.0" -MONDO:0005993 "ICD10:A59.00" MONDO:0005993 "MESH:D014247" +MONDO:0005993 "ICD10CM:A59.0" MONDO:0005993 "DOID:0050269" MONDO:0005993 "NCIT:C35083" MONDO:0005993 "ICD9:131.09" @@ -76669,34 +74746,33 @@ MONDO:0005993 "SCTID:35089004" MONDO:0001317 "DOID:11581" MONDO:0001317 "ICD9:370.31" MONDO:0001317 "SCTID:67895005" -MONDO:0001317 "ICD10:H16.25" MONDO:0001317 "UMLS:C0155080" +CL:1000457 "FMA:72143" MONDO:0021662 "UMLS:C0005396" MONDO:0021662 "NCIT:C2898" -CL:1000457 "FMA:72143" MONDO:0009123 "ICD9:270.8" -MONDO:0009123 "ICD10:G90.8" MONDO:0009123 "DOID:0090145" MONDO:0009123 "MESH:C535600" +MONDO:0009123 "ICD10CM:G90.8" MONDO:0009123 "SCTID:237923004" MONDO:0009123 "OMIM:223360" MONDO:0009123 "UMLS:C0342687" MONDO:0009123 "Orphanet:230" MONDO:0009123 "GARD:1903" MONDO:0009123 "GARD:0001903" -MONDO:0016626 "ICD10:D55.2" +MONDO:0016626 "ICD10CM:D55.2" MONDO:0016626 "Orphanet:248305" MONDO:0016802 "UMLS:CN227003" MONDO:0016802 "Orphanet:254834" MONDO:0044682 "Orphanet:498693" +MONDO:0020465 "ICD10CM:Q10.3" MONDO:0020465 "Orphanet:99176" MONDO:0020465 "SCTID:715769008" -MONDO:0020465 "ICD10:Q10.3" MONDO:0009490 "Orphanet:678" MONDO:0009490 "OMIM:245000" MONDO:0009490 "GARD:0003100" -MONDO:0009490 "ICD10:Q82.8" MONDO:0009490 "DOID:3389" +MONDO:0009490 "ICD10CM:Q82.8" MONDO:0009490 "ICD9:759.89" MONDO:0009490 "SCTID:40158001" MONDO:0009490 "UMLS:C0030360" @@ -76707,27 +74783,27 @@ MONDO:0021507 "UMLS:C0686400" MONDO:0021507 "SCTID:92029009" MONDO:0011303 "MESH:C538457" MONDO:0011303 "Orphanet:93213" +MONDO:0011303 "ICD10CM:N04.1" MONDO:0011303 "DOID:0111128" MONDO:0011303 "OMIM:603278" -MONDO:0011303 "ICD10:N04.1" MONDO:0012861 "MESH:C567351" MONDO:0012861 "UMLS:C2676742" MONDO:0012861 "OMIM:612310" MONDO:0013503 "UMLS:C3151405" MONDO:0013503 "OMIM:613956" +MONDO:0015051 "ICD10CM:Q39.8" MONDO:0015051 "Orphanet:100048" -MONDO:0015051 "ICD10:Q39.8" MONDO:0008385 "OMIM:180360" MONDO:0008385 "MESH:C566708" MONDO:0018450 "Orphanet:404521" MONDO:0018450 "UMLS:CN226195" -MONDO:0018450 "ICD10:G12.2" +MONDO:0018450 "ICD10CM:G12.2" MONDO:0007188 "OMIM:109500" MONDO:0007188 "Orphanet:2285" MONDO:0007188 "UMLS:C1862299" MONDO:0007188 "GARD:0001037" MONDO:0007188 "MESH:C566226" -MONDO:0007188 "ICD10:Q75.8" +MONDO:0007188 "ICD10CM:Q75.8" MONDO:0005876 "MESH:D030341" MONDO:0005876 "EFO:0007396" MONDO:0005876 "UMLS:C0969753" @@ -76735,35 +74811,32 @@ MONDO:0024236 "NCIT:C27090" MONDO:0024236 "ICD9:796.4" MONDO:0024236 "SCTID:362975008" MONDO:0024236 "UMLS:C1285162" +MONDO:0017230 "ICD10CM:E88.1" MONDO:0017230 "Orphanet:280365" MONDO:0017230 "UMLS:CN202719" -MONDO:0017230 "ICD10:E88.1" -MONDO:0013913 "ICD10:E23.0" MONDO:0013913 "UMLS:C3553844" MONDO:0013913 "OMIM:614840" MONDO:0013913 "DOID:0090071" NCBITaxon:5810 "GC_ID:1" MONDO:0022948 "MESH:C538206" MONDO:0022948 "UMLS:C2931773" +MONDO:0012744 "ICD10CM:I42.0" MONDO:0012744 "Orphanet:54260" MONDO:0012744 "DOID:0110457" -MONDO:0012744 "ICD10:I42.0" MONDO:0012744 "MESH:C567507" MONDO:0012744 "OMIM:611878" MONDO:0043768 "MESH:D011696" MONDO:0043768 "NCIT:C26870" MONDO:0043768 "SCTID:302873008" MONDO:0043768 "UMLS:C0857305" -MONDO:0016492 "ICD10:D58.2" MONDO:0016492 "Orphanet:231386" +MONDO:0016492 "ICD10CM:D58.2" MONDO:0012056 "DOID:0110005" MONDO:0012056 "OMIM:608553" MONDO:0012056 "Orphanet:65" -MONDO:0012056 "ICD10:H35.5" MONDO:0012056 "MESH:C536603" MONDO:0012056 "GARD:0009491" MONDO:0002049 "OMIM:612004" -MONDO:0002049 "ICD10:D69.6" MONDO:0002049 "OMIM:300367" MONDO:0002049 "Orphanet:852" MONDO:0002049 "MESH:D013921" @@ -76784,11 +74857,11 @@ MONDO:0006480 "UMLS:C1334180" MONDO:0006480 "EFO:1000608" MONDO:0006480 "DOID:6192" MONDO:0009997 "DOID:5325" -MONDO:0009997 "ICD10:Q73.8" MONDO:0009997 "GARD:0007387" MONDO:0009997 "SCTID:48718006" MONDO:0009997 "MESH:C535687" MONDO:0009997 "NCIT:C4681" +MONDO:0009997 "ICD10CM:Q73.8" MONDO:0009997 "Orphanet:3103" MONDO:0009997 "NCIT:C126326" MONDO:0003362 "NCIT:C4484" @@ -76796,9 +74869,9 @@ MONDO:0003362 "DOID:5273" MONDO:0003362 "HP:0006755" MONDO:0003362 "UMLS:C0346067" MONDO:0003362 "SCTID:254771006" +MONDO:0018671 "ICD10CM:N11.8" MONDO:0018671 "Orphanet:449395" MONDO:0018671 "UMLS:CN237737" -MONDO:0018671 "ICD10:N11.8" MONDO:0014235 "DOID:0060437" MONDO:0014235 "OMIM:615538" MONDO:0014235 "UMLS:C3809844" @@ -76813,7 +74886,6 @@ MONDO:0002918 "DOID:4210" MONDO:0002918 "NCIT:C4722" MONDO:0002918 "ICDO:9538/1" MONDO:0002918 "MESH:D008579" -MONDO:0018957 "ICD10:M79.2" MONDO:0018957 "SCTID:427972000" MONDO:0018957 "MESH:D060545" MONDO:0018957 "Orphanet:60039" @@ -76822,20 +74894,30 @@ MONDO:0018957 "GARD:0010713" MONDO:0018957 "UMLS:C1997249" MONDO:0018957 "UMLS:C3178970" MONDO:0018957 "ICD9:729.2" -MONDO:0010786 "ICD10:K59.1" +MONDO:0018957 "ICD10CM:M79.2" MONDO:0010786 "UMLS:C1838912" MONDO:0010786 "OMIM:520100" MONDO:0010786 "Orphanet:1670" +MONDO:0010786 "ICD10CM:K59.1" MONDO:0010786 "MESH:C564019" MONDO:0011732 "Orphanet:85169" -MONDO:0011732 "ICD10:M06.8" +MONDO:0011732 "ICD10CM:M06.8" MONDO:0011732 "OMIM:606835" MONDO:0011732 "UMLS:C1847406" MONDO:0011732 "MESH:C564656" -MONDO:0010962 "Orphanet:530838" +MONDO:0010962 "EFO:1000743" +MONDO:0010962 "SCTID:400123002" +MONDO:0010962 "UMLS:C0022584" +MONDO:0010962 "ICD10CM:Q82.8" +MONDO:0010962 "OMIM:615735" MONDO:0010962 "Orphanet:496" +MONDO:0010962 "Orphanet:530838" +MONDO:0010962 "DOID:0050428" MONDO:0010962 "GARD:0005186" +MONDO:0010962 "OMIM:613000" MONDO:0010962 "OMIM:600962" +MONDO:0010962 "OMIM:600231" +MONDO:0010962 "SCTID:716105001" MONDO:0060555 "OMIM:617661" MONDO:0060555 "UMLS:C4540014" MONDO:0010274 "UMLS:C1846164" @@ -76845,13 +74927,13 @@ MONDO:0013497 "UMLS:C3151379" MONDO:0013497 "OMIM:613949" MONDO:0015331 "UMLS:CN199361" MONDO:0015331 "Orphanet:139027" -MONDO:0012453 "ICD10:G11.4" MONDO:0012453 "Orphanet:101011" MONDO:0012453 "DOID:0110782" MONDO:0012453 "UMLS:C1853247" MONDO:0012453 "OMIM:610250" MONDO:0012453 "GARD:0010817" MONDO:0012453 "SCTID:763068005" +MONDO:0012453 "ICD10CM:G11.4" MONDO:0012453 "MESH:C565210" MONDO:0045014 "SCTID:237913008" MONDO:0045014 "UMLS:C0342676" @@ -76867,11 +74949,11 @@ MONDO:0003869 "GARD:0009306" MONDO:0003869 "DOID:6383" MONDO:0003869 "UMLS:C0278600" MONDO:0003869 "NCIT:C9042" +MONDO:0010461 "ICD10CM:Q87.8" MONDO:0010461 "DOID:0060820" MONDO:0010461 "UMLS:C3275464" MONDO:0010461 "OMIM:300860" MONDO:0010461 "Orphanet:163956" -MONDO:0010461 "ICD10:Q87.8" MONDO:0005425 "DOID:0050138" MONDO:0005425 "SCTID:47595008" MONDO:0005425 "EFO:0004712" @@ -76883,9 +74965,8 @@ HP:0005561 "SNOMEDCT_US:127035006" HP:0005561 "MSH:D001855" MONDO:0013894 "Orphanet:314394" MONDO:0013894 "UMLS:C3542022" +MONDO:0013894 "ICD10CM:Q87.1" MONDO:0013894 "OMIM:614813" -MONDO:0013894 "ICD10:Q87.1" -MONDO:0012640 "ICD10:G60.0" MONDO:0012640 "SCTID:720638000" MONDO:0012640 "DOID:0110184" MONDO:0012640 "Orphanet:139515" @@ -76893,6 +74974,7 @@ MONDO:0012640 "GARD:0012443" MONDO:0012640 "MESH:C566984" MONDO:0012640 "OMIM:611228" MONDO:0012640 "NCIT:C134954" +MONDO:0012640 "ICD10CM:G60.0" MONDO:0012640 "UMLS:C1970011" CL:0000222 "FMA:72554" MONDO:0006866 "SCTID:82178003" @@ -76914,20 +74996,19 @@ MONDO:0030902 "OMIM:619170" MONDO:0010682 "UMLS:C0751778" MONDO:0010682 "OMIM:310370" MONDO:0010682 "Orphanet:308" +MONDO:0017486 "ICD10CM:Q71.4" MONDO:0017486 "Orphanet:295069" -MONDO:0017486 "ICD10:Q71.4" MONDO:0001319 "SCTID:188241004" MONDO:0001319 "NCIT:C12333" MONDO:0001319 "DOID:11593" MONDO:0001319 "ICD9:188.2" MONDO:0001319 "UMLS:C0496828" -MONDO:0001319 "ICD10:C67.2" -MONDO:0016271 "ICD10:C54.1" +MONDO:0016271 "ICD10CM:C54.1" +MONDO:0016271 "ICD10CM:C54.2" MONDO:0016271 "Orphanet:213741" -MONDO:0016271 "ICD10:C54.2" -MONDO:0016271 "ICD10:C54.8" -MONDO:0016271 "ICD10:C54.0" -MONDO:0016271 "ICD10:C54.3" +MONDO:0016271 "ICD10CM:C54.3" +MONDO:0016271 "ICD10CM:C54.0" +MONDO:0016271 "ICD10CM:C54.8" NCBITaxon:196 "PMID:1354478" NCBITaxon:196 "PMID:11321120" NCBITaxon:196 "GC_ID:11" @@ -76936,10 +75017,11 @@ MONDO:0019788 "Orphanet:94080" MONDO:0013222 "DOID:0070201" MONDO:0013222 "UMLS:C2750076" MONDO:0013222 "OMIM:613319" -MONDO:0013222 "ICD10:G71.0" MONDO:0013222 "Orphanet:399096" +MONDO:0013222 "ICD10CM:G71.0" MONDO:0013222 "MESH:C567645" MONDO:0011910 "Orphanet:265" +MONDO:0011910 "ICD10CM:G71.0" MONDO:0011910 "SCTID:719986000" MONDO:0011910 "DOID:0110302" MONDO:0011910 "OMIM:607801" @@ -76947,21 +75029,20 @@ MONDO:0011910 "NCIT:C148318" MONDO:0011910 "UMLS:C1832567" MONDO:0011910 "GARD:0012527" MONDO:0011910 "MESH:C563362" -MONDO:0011910 "ICD10:G71.0" MONDO:0002195 "DOID:2072" MONDO:0002195 "NCIT:C40283" MONDO:0002195 "UMLS:C1520097" MONDO:0008098 "SCTID:33979003" MONDO:0008098 "Orphanet:2633" MONDO:0008098 "OMIM:163400" -MONDO:0008098 "ICD10:Q78.8" MONDO:0008098 "GARD:0003554" +MONDO:0008098 "ICD10CM:Q78.8" MONDO:0008098 "UMLS:C0432231" MONDO:0008098 "MESH:C536120" MONDO:0007470 "SCTID:720598005" MONDO:0007470 "MESH:C565089" +MONDO:0007470 "ICD10CM:M85.8" MONDO:0007470 "Orphanet:85192" -MONDO:0007470 "ICD10:M85.8" MONDO:0007470 "UMLS:C1852022" MONDO:0007470 "OMIM:126550" MONDO:0022716 "GARD:0009234" @@ -76971,9 +75052,9 @@ MONDO:0009429 "MESH:C565478" MONDO:0009429 "UMLS:C1855809" MONDO:0009429 "OMIM:241519" MONDO:0007732 "OMIM:142900" +MONDO:0007732 "ICD10CM:Q87.2" MONDO:0007732 "NCIT:C125592" MONDO:0007732 "MedDRA:10050469" -MONDO:0007732 "ICD10:Q87.2" MONDO:0007732 "GARD:0006666" MONDO:0007732 "MESH:C535326" MONDO:0007732 "SCTID:19092004" @@ -76988,7 +75069,7 @@ MONDO:0010565 "ICD9:368.51" MONDO:0010565 "DOID:13910" MONDO:0010565 "OMIM:303900" MONDO:0010565 "EFO:0005580" -MONDO:0010565 "ICD10:H53.54" +MONDO:0010565 "ICD10CM:H53.54" MONDO:0020630 "OMIM:617711" MONDO:0020630 "DOID:0080472" MONDO:0011511 "UMLS:C1857942" @@ -76997,11 +75078,11 @@ MONDO:0011511 "MESH:C565729" MONDO:0036870 "UMLS:C0206619" MONDO:0036870 "NCIT:C3723" MONDO:0019460 "SCTID:721308005" +MONDO:0019460 "ICD10CM:C95.0" MONDO:0019460 "Orphanet:86851" MONDO:0019460 "UMLS:C0023464" MONDO:0019460 "OMIM:601626" MONDO:0019460 "UMLS:C1301357" -MONDO:0019460 "ICD10:C95.0" MONDO:0019460 "GARD:0008638" MONDO:0019460 "NCIT:C7464" MONDO:0019460 "MESH:D015456" @@ -77009,7 +75090,7 @@ MONDO:0019460 "MedDRA:10067399" NCBITaxon:33682 "GC_ID:1" MONDO:0014487 "OMIM:616084" MONDO:0014487 "Orphanet:369861" -MONDO:0014487 "ICD10:D64.0" +MONDO:0014487 "ICD10CM:D64.0" MONDO:0014487 "UMLS:C4015172" MONDO:0014487 "DOID:0080209" MONDO:0014663 "UMLS:C4225307" @@ -77024,9 +75105,9 @@ MONDO:0004130 "DOID:7174" MONDO:0007353 "UMLS:C1852752" MONDO:0007353 "SCTID:717785002" MONDO:0007353 "OMIM:120400" -MONDO:0007353 "ICD10:Q87.1" MONDO:0007353 "MESH:C535969" MONDO:0007353 "GARD:0001437" +MONDO:0007353 "ICD10CM:Q87.1" MONDO:0007353 "Orphanet:1471" MONDO:0008417 "Orphanet:91490" MONDO:0008417 "MESH:C566692" @@ -77048,29 +75129,28 @@ MONDO:0600023 "Orphanet:98482" MONDO:0600023 "SCTID:702380008" MONDO:0600023 "OMIM:160750" MONDO:0600023 "UMLS:C0751356" +MONDO:0019807 "ICD10CM:Q24.8" MONDO:0019807 "SCTID:16567006" -MONDO:0019807 "ICD10:Q24.8" MONDO:0019807 "Orphanet:95443" MONDO:0019807 "ICD9:746.87" MONDO:0019807 "HP:0011599" MONDO:0017720 "UMLS:C0039373" MONDO:0017720 "DOID:3321" -MONDO:0017720 "ICD10:E75.0" +MONDO:0017720 "ICD10CM:E75.0" MONDO:0017720 "MESH:D020143" MONDO:0017720 "GARD:0002522" MONDO:0017720 "Orphanet:309152" MONDO:0017720 "SCTID:33316007" -MONDO:0017720 "ICD10:E75.00" MONDO:0017720 "UMLS:C0268274" MONDO:0011147 "ICD9:758.39" MONDO:0011147 "OMIM:601808" MONDO:0011147 "Orphanet:1600" MONDO:0011147 "MESH:C536580" -MONDO:0011147 "ICD10:Q93.5" MONDO:0011147 "Orphanet:262146" MONDO:0011147 "UMLS:C0432443" MONDO:0011147 "GARD:0013000" MONDO:0011147 "SCTID:270889005" +MONDO:0011147 "ICD10CM:Q93.5" MONDO:0011147 "NCIT:C84522" MONDO:0011147 "DOID:0060407" MONDO:0011147 "GARD:0010866" @@ -77081,8 +75161,8 @@ MONDO:0023646 "MESH:C537026" MONDO:0017894 "Orphanet:319480" MONDO:0017894 "UMLS:C2826178" MONDO:0017894 "SCTID:764855007" -MONDO:0017894 "ICD10:C92.0" MONDO:0017894 "NCIT:C82433" +MONDO:0017894 "ICD10CM:C92.0" MONDO:0017894 "OMIM:601626" MONDO:0005571 "UMLS:C0032461" MONDO:0005571 "EFO:0005804" @@ -77090,7 +75170,6 @@ MONDO:0005571 "DOID:8432" MONDO:0005571 "MESH:D011086" MONDO:0005571 "NCIT:C26863" MONDO:0005571 "Orphanet:98427" -MONDO:0005571 "ICD10:D75.1" MONDO:0005571 "MedDRA:10036051" MONDO:0005571 "HP:0001901" MONDO:0009858 "UMLS:C1849929" @@ -77098,8 +75177,8 @@ MONDO:0009858 "GARD:0004305" MONDO:0009858 "SCTID:726672000" MONDO:0009858 "OMIM:261560" MONDO:0009858 "MESH:C537889" +MONDO:0009858 "ICD10CM:Q87.1" MONDO:0009858 "Orphanet:2871" -MONDO:0009858 "ICD10:Q87.1" MONDO:0009060 "UMLS:C1384901" MONDO:0009060 "MESH:C563237" MONDO:0009060 "OMIM:219600" @@ -77108,7 +75187,6 @@ MONDO:0013326 "OMIM:613615" MONDO:0013326 "UMLS:C3150877" CL:0002598 "BTO:0004402" MONDO:0000926 "DOID:10034" -MONDO:0000926 "ICD10:H52.5" MONDO:0000926 "ICD9:367.5" MONDO:0000926 "UMLS:C0152198" MONDO:0000926 "SCTID:54552008" @@ -77126,31 +75204,35 @@ MONDO:0021298 "SCTID:92668003" MONDO:0021298 "UMLS:C0347099" MONDO:0007062 "Orphanet:973" MONDO:0007062 "GARD:0000377" -MONDO:0007062 "ICD10:Q71.3" MONDO:0007062 "OMIM:102650" MONDO:0007062 "Orphanet:294990" +MONDO:0007062 "ICD10CM:Q71.3" MONDO:0007062 "MESH:C562417" NCBITaxon:135625 "PMID:16280474" NCBITaxon:135625 "GC_ID:11" MONDO:0020200 "Orphanet:98612" -MONDO:0005070 "DOID:14566" +MONDO:0005070 "NCIT:C3262" +MONDO:0005070 "ICD10CM:D49-D49" MONDO:0005070 "ONCOTREE:OTHER" -MONDO:0005070 "HP:0002664" -MONDO:0005070 "ICD10:C00.D48" +MONDO:0005070 "ICD10CM:C00-D49" MONDO:0005070 "UMLS:CN236628" -MONDO:0005070 "EFO:0000616" -MONDO:0005070 "ICD9:239.8" -MONDO:0005070 "MESH:D009369" -MONDO:0005070 "NCIT:C3262" -MONDO:0005070 "SCTID:55342001" +MONDO:0005070 "ICD10CM:C30-C39" MONDO:0005070 "ICD9:239.9" +MONDO:0005070 "DOID:14566" +MONDO:0005070 "SCTID:55342001" +MONDO:0005070 "ICD10CM:D37-D48" +MONDO:0005070 "MESH:D009369" +MONDO:0005070 "ICD9:239.8" +MONDO:0005070 "ICD10CM:D00-D09" +MONDO:0005070 "EFO:0000616" MONDO:0005070 "ICD9:140-239.99" +MONDO:0005070 "HP:0002664" MONDO:0030894 "OMIM:619151" MONDO:0012314 "MESH:C566504" MONDO:0012314 "OMIM:609622" MONDO:0012314 "UMLS:C1865018" MONDO:0018476 "UMLS:CN237465" -MONDO:0018476 "ICD10:G24.8" +MONDO:0018476 "ICD10CM:G24.8" MONDO:0018476 "Orphanet:412217" MONDO:0001487 "DOID:12298" MONDO:0001487 "UMLS:C0546835" @@ -77178,7 +75260,6 @@ MONDO:0044767 "GARD:0009368" MONDO:0044767 "GARD:9368" MONDO:0044767 "NCIT:C118822" MONDO:0044767 "UMLS:CN036354" -MONDO:0015136 "ICD10:D84.1" MONDO:0015136 "Orphanet:101992" MONDO:0030317 "OMIM:619402" MONDO:0010097 "OMIM:272650" @@ -77193,14 +75274,13 @@ MONDO:0005291 "EFO:0003870" MONDO:0005291 "NCIT:C27208" MONDO:0005291 "MESH:D002532" MONDO:0005291 "NCIT:C34458" -MONDO:0012180 "ICD10:I42.8" +MONDO:0012180 "UMLS:C1836906" MONDO:0012180 "Orphanet:217656" MONDO:0012180 "OMIM:609040" MONDO:0012180 "MESH:C563808" MONDO:0012180 "DOID:0110077" -MONDO:0012180 "UMLS:C1836906" MONDO:0017315 "UMLS:C2930950" -MONDO:0017315 "ICD10:Q87.8" +MONDO:0017315 "ICD10CM:Q87.8" MONDO:0017315 "SCTID:721073008" MONDO:0017315 "MESH:C535613" MONDO:0017315 "GARD:0000583" @@ -77214,16 +75294,15 @@ MONDO:0020727 "DOID:0111498" MONDO:0020727 "OMIM:616045" MONDO:0011912 "OMIM:607821" MONDO:0011912 "DOID:0110495" -MONDO:0011912 "ICD10:H90.3" MONDO:0011912 "MESH:C564331" MONDO:0011912 "UMLS:C1843028" MONDO:0015494 "Orphanet:156159" -MONDO:0015494 "ICD10:G24.1" +MONDO:0015494 "ICD10CM:G24.1" MONDO:0016577 "SCTID:717156002" MONDO:0016577 "UMLS:CN201730" MONDO:0016577 "UMLS:C4274029" +MONDO:0016577 "ICD10CM:Q44.2" MONDO:0016577 "Orphanet:244283" -MONDO:0016577 "ICD10:Q44.2" MONDO:0013699 "MESH:C563971" MONDO:0013699 "DOID:0070275" MONDO:0013699 "Orphanet:144" @@ -77231,7 +75310,7 @@ MONDO:0013699 "UMLS:C1838333" MONDO:0013699 "OMIM:614337" MONDO:0017523 "UMLS:CN203254" MONDO:0017523 "Orphanet:295144" -MONDO:0017523 "ICD10:Q69.1" +MONDO:0017523 "ICD10CM:Q69.1" MONDO:0018710 "Orphanet:457359" MONDO:0018710 "OMIM:617011" MONDO:0000790 "DOID:0060515" @@ -77243,31 +75322,31 @@ MONDO:0045045 "UMLS:C0162539" MONDO:0045045 "GARD:0010371" MONDO:0045045 "SCTID:12631000119106" MONDO:0019953 "Orphanet:97252" -MONDO:0019953 "ICD10:Q07.8" +MONDO:0019953 "ICD10CM:Q07.8" MONDO:0018756 "Orphanet:466682" -MONDO:0018756 "ICD10:H05.2" +MONDO:0018756 "ICD10CM:H05.2" MONDO:0009637 "UMLS:C0162670" -MONDO:0009637 "ICD10:G71.3" -MONDO:0009637 "NCIT:C101328" MONDO:0009637 "Orphanet:206966" +MONDO:0009637 "NCIT:C101328" +MONDO:0009637 "ICD10CM:G71.3" MONDO:0009637 "DOID:699" MONDO:0009637 "MESH:D017240" MONDO:0009637 "OMIM:251900" MONDO:0009637 "MedDRA:10027710" MONDO:0009637 "GARD:0011956" MONDO:0018068 "DOID:11665" -MONDO:0018068 "ICD10:Q91.6" -MONDO:0018068 "ICD10:Q91.5" +MONDO:0018068 "ICD10CM:Q91.7" MONDO:0018068 "MESH:C536305" MONDO:0018068 "ICD9:758.1" MONDO:0018068 "UMLS:CN204386" -MONDO:0018068 "ICD10:Q91.4" +MONDO:0018068 "ICD10CM:Q91.4" +MONDO:0018068 "ICD10CM:Q91.6" MONDO:0018068 "NCIT:C36529" MONDO:0018068 "Orphanet:3378" MONDO:0018068 "NCIT:C101223" MONDO:0018068 "SCTID:21111006" MONDO:0018068 "GARD:0007341" -MONDO:0018068 "ICD10:Q91.7" +MONDO:0018068 "ICD10CM:Q91.5" MONDO:0018068 "UMLS:C0152095" MONDO:0018068 "MedDRA:10044686" NCBITaxon:6213 "GC_ID:1" @@ -77276,7 +75355,7 @@ HP:0010301 "MSH:D009436" HP:0010301 "UMLS:C0027794" MONDO:0021077 "NCIT:C6784" MONDO:0021077 "UMLS:C1333190" -MONDO:0013886 "ICD10:G11.0" +MONDO:0013886 "ICD10CM:G11.0" MONDO:0013886 "DOID:0050998" MONDO:0013886 "UMLS:C3553661" MONDO:0013886 "OMIM:614756" @@ -77295,9 +75374,8 @@ MONDO:0009295 "UMLS:C0017926" MONDO:0009295 "OMIM:232800" MONDO:0009295 "MESH:D006014" MONDO:0009295 "SCTID:89597008" -MONDO:0009295 "ICD10:E74.0" MONDO:0009295 "NCIT:C118437" -MONDO:0009295 "ICD10:E74.09" +MONDO:0009295 "ICD10CM:E74.0" MONDO:0009295 "GARD:0005686" MONDO:0009295 "Orphanet:371" MONDO:0019809 "Orphanet:95449" @@ -77305,18 +75383,17 @@ MONDO:0019809 "MedDRA:10010370" MONDO:0019809 "NCIT:C103936" MONDO:0019809 "ICD9:746.4" MONDO:0019809 "UMLS:C0158617" -MONDO:0019809 "ICD10:Q23.1" MONDO:0019809 "SCTID:28656008" MONDO:0011539 "GARD:0008334" MONDO:0011539 "MESH:C538397" MONDO:0011539 "DOID:0110936" MONDO:0011539 "UMLS:C1854380" MONDO:0011539 "OMIM:605355" -MONDO:0011539 "ICD10:G71.2" +MONDO:0011539 "ICD10CM:G71.2" MONDO:0011539 "Orphanet:607" MONDO:0011539 "Orphanet:98902" MONDO:0018255 "Orphanet:370019" -MONDO:0018255 "ICD10:Q77.8" +MONDO:0018255 "ICD10CM:Q77.8" MONDO:0015869 "Orphanet:180253" MONDO:0016943 "Orphanet:262740" MONDO:0016943 "UMLS:CN036641" @@ -77326,10 +75403,10 @@ MONDO:0009132 "OMIM:224000" MONDO:0009132 "MESH:C535728" MONDO:0009132 "UMLS:C1857153" MONDO:0009132 "GARD:0009475" +MONDO:0020435 "ICD10CM:Q21.1" MONDO:0020435 "ICD9:746.89" MONDO:0020435 "GARD:0010697" MONDO:0020435 "SCTID:40272001" -MONDO:0020435 "ICD10:Q21.1" MONDO:0020435 "Orphanet:99104" MONDO:0003551 "NCIT:C6458" MONDO:0003551 "DOID:5626" @@ -77338,7 +75415,6 @@ MONDO:0004794 "UMLS:C0339295" MONDO:0004794 "SCTID:14366000" MONDO:0004794 "DOID:9461" MONDO:0004794 "ICD9:370.34" -MONDO:0004794 "ICD10:H16.21" MONDO:0003813 "UMLS:C0476121" MONDO:0003813 "DOID:6214" MONDO:0003813 "NCIT:C8430" @@ -77365,32 +75441,26 @@ MONDO:0019283 "Orphanet:79368" MONDO:0004631 "SCTID:363360003" MONDO:0004631 "GARD:0007779" MONDO:0004631 "ICD9:141.4" -MONDO:0004631 "ICD10:C01" MONDO:0004631 "MESH:D014062" -MONDO:0004631 "ICD10:C02.2" MONDO:0004631 "DOID:8649" MONDO:0004631 "NCIT:C9345" MONDO:0004631 "ICD9:141.3" MONDO:0004631 "ICD9:141.6" MONDO:0004631 "ICD9:141.5" -MONDO:0004631 "ICD10:C02.9" -MONDO:0004631 "ICD10:C02.0" MONDO:0004631 "ICD9:141.0" -MONDO:0004631 "ICD10:C02.1" MONDO:0004631 "ICD9:141" MONDO:0004631 "ICD9:141.9" MONDO:0004631 "ICD9:141.2" MONDO:0004631 "ICD9:141.1" -MONDO:0004631 "ICD10:C02.4" +MONDO:0018326 "UMLS:C0495465" +MONDO:0018326 "Orphanet:391504" +MONDO:0018326 "NCIT:C117308" +MONDO:0018326 "ICD10CM:P94.0" MONDO:0021467 "ICD9:223.1" MONDO:0021467 "UMLS:C0154015" MONDO:0021467 "NCIT:C3616" MONDO:0021467 "EFO:1000118" MONDO:0021467 "SCTID:92319008" -MONDO:0018326 "ICD10:P94.0" -MONDO:0018326 "UMLS:C0495465" -MONDO:0018326 "Orphanet:391504" -MONDO:0018326 "NCIT:C117308" MONDO:0000382 "DOID:0050621" MONDO:0000382 "UMLS:C0497556" MONDO:0000382 "SCTID:255166003" @@ -77405,8 +75475,8 @@ MONDO:0003434 "NCIT:C40256" MONDO:0003434 "DOID:5402" MONDO:0022918 "GARD:0009529" MONDO:0002411 "ICD9:301.81" +MONDO:0002411 "ICD10CM:F60.81" MONDO:0002411 "NCIT:C92635" -MONDO:0002411 "ICD10:F60.81" MONDO:0002411 "SCTID:80711002" MONDO:0002411 "DOID:2745" MONDO:0006810 "DOID:9428" @@ -77416,42 +75486,42 @@ MONDO:0006810 "NCIT:C84791" MONDO:0006810 "MedDRA:10022764" MONDO:0006810 "EFO:1000992" NCBITaxon:12542 "GC_ID:1" -MONDO:0020506 "ICD10:E75.2" MONDO:0020506 "OMIM:603896" MONDO:0020506 "OMIM:615889" +MONDO:0020506 "ICD10CM:E75.2" MONDO:0020506 "UMLS:C1847967" MONDO:0020506 "Orphanet:99853" MONDO:0054588 "OMIM:617506" MONDO:0014689 "OMIM:616549" MONDO:0014689 "Orphanet:447974" -MONDO:0014689 "ICD10:Q76.1" MONDO:0014689 "DOID:0080592" +MONDO:0014689 "ICD10CM:Q76.1" MONDO:0014689 "UMLS:C4225285" MONDO:0009522 "UMLS:C1855504" MONDO:0009522 "SCTID:239032007" MONDO:0009522 "Orphanet:1816" +MONDO:0009522 "ICD10CM:Q82.4" MONDO:0009522 "MESH:C565440" MONDO:0009522 "OMIM:246500" MONDO:0009522 "UMLS:C0406729" -MONDO:0009522 "ICD10:Q82.4" MONDO:0008752 "Orphanet:58" MONDO:0008752 "UMLS:C0270726" MONDO:0008752 "GARD:0005774" MONDO:0008752 "OMIM:203450" MONDO:0008752 "DOID:4252" -MONDO:0008752 "ICD10:E75.2" +MONDO:0008752 "ICD10CM:E75.2" MONDO:0008752 "MESH:D038261" MONDO:0008752 "SCTID:81854007" MONDO:0008752 "NCIT:C84545" +MONDO:0007379 "OMIM:122100" MONDO:0007379 "GARD:0009688" MONDO:0007379 "OMIMPS:122100" MONDO:0007379 "MESH:D053559" +MONDO:0007379 "ICD10CM:H18.5" MONDO:0007379 "DOID:0060451" MONDO:0007379 "Orphanet:98954" MONDO:0007379 "NCIT:C84795" MONDO:0007379 "SCTID:1674008" -MONDO:0007379 "ICD10:H18.52" -MONDO:0007379 "ICD10:H18.5" MONDO:0007379 "UMLS:C0339277" MONDO:0007379 "ICD9:371.51" MONDO:0001652 "UMLS:C1331544" @@ -77464,20 +75534,21 @@ MONDO:0007555 "DOID:0060736" MONDO:0007555 "GARD:0002148" MONDO:0007555 "ICD9:757.39" MONDO:0007555 "Orphanet:79401" -MONDO:0007555 "ICD10:Q81.0" +MONDO:0007555 "ICD10CM:Q81.0" +MONDO:0005141 "EFO:0001076" MONDO:0005141 "ICD9:041.7" MONDO:0005141 "SCTID:63398001" MONDO:0005141 "MESH:D011552" -MONDO:0005141 "EFO:0001076" MONDO:0004852 "DOID:9697" MONDO:0004852 "UMLS:C0153214" MONDO:0004852 "ICD9:098.43" -MONDO:0004852 "ICD10:A54.33" +MONDO:0004852 "ICD10CM:A54.33" MONDO:0004852 "SCTID:40149008" MONDO:0014594 "DOID:0110588" MONDO:0014594 "UMLS:C4084712" MONDO:0014594 "OMIM:616340" -MONDO:0014594 "ICD10:H90.3" +MONDO:8000023 "UMLS:C1519711" +MONDO:8000023 "NCIT:C39577" MONDO:0025425 "MESH:D006522" HP:0002633 "MSH:D014657" HP:0002633 "SNOMEDCT_US:31996006" @@ -77489,10 +75560,10 @@ MONDO:0032578 "OMIM:618174" MONDO:0019673 "UMLS:C3887487" MONDO:0019673 "OMIM:263450" MONDO:0019673 "OMIM:607324" -MONDO:0019673 "ICD10:Q69.0" MONDO:0019673 "HP:0005696" MONDO:0019673 "OMIM:608562" MONDO:0019673 "OMIM:615226" +MONDO:0019673 "ICD10CM:Q69.0" MONDO:0019673 "OMIM:602085" MONDO:0019673 "OMIM:174200" MONDO:0019673 "SCTID:715704001" @@ -77509,9 +75580,8 @@ MONDO:0014431 "GARD:0013126" MONDO:0014431 "DOID:0070206" MONDO:0014431 "UMLS:C4014869" MONDO:0014431 "OMIM:615980" +MONDO:0014431 "ICD10CM:E88.1" MONDO:0014431 "Orphanet:435660" -MONDO:0014431 "ICD10:E88.1" -MONDO:0006543 "ICD10:Q81.2" MONDO:0006543 "ICD9:757.39" MONDO:0006543 "GARD:0002150" MONDO:0006543 "Orphanet:303" @@ -77526,12 +75596,12 @@ MONDO:0008973 "Orphanet:79347" MONDO:0008973 "SCTID:715631005" MONDO:0008973 "OMIM:215105" MONDO:0008973 "MESH:C565853" -MONDO:0008973 "ICD10:Q77.3" +MONDO:0008973 "ICD10CM:Q77.3" HP:0009122 "UMLS:C4024585" MONDO:0027091 "GARD:0009739" +MONDO:0017933 "ICD10CM:I42.2" MONDO:0017933 "UMLS:CN204073" MONDO:0017933 "Orphanet:324525" -MONDO:0017933 "ICD10:I42.2" MONDO:0030472 "OMIM:619605" HP:0002269 "MSH:D054081" HP:0002269 "UMLS:C1837249" @@ -77539,6 +75609,7 @@ MONDO:0020840 "UMLS:CN248786" MONDO:0020840 "OMIM:618042" MONDO:0024582 "SCTID:126895004" MONDO:0024582 "ICD9:239.5" +MONDO:0024582 "ICD10CM:C60-C63" MONDO:0024582 "NCIT:C3054" MONDO:0006426 "UMLS:C1336048" MONDO:0006426 "NCIT:C5406" @@ -77548,8 +75619,8 @@ MONDO:0007984 "DOID:0111513" MONDO:0007984 "Orphanet:2504" MONDO:0007984 "OMIM:156510" MONDO:0007984 "GARD:0003568" +MONDO:0007984 "ICD10CM:Q77.8" MONDO:0007984 "UMLS:CN201864" -MONDO:0007984 "ICD10:Q77.8" MONDO:0009802 "OMIM:259270" MONDO:0009802 "MESH:C564922" MONDO:0009802 "UMLS:C1850185" @@ -77568,28 +75639,27 @@ MONDO:0019086 "SCTID:372138000" MONDO:0018105 "ICD9:250.80" MONDO:0018105 "OMIM:598500" MONDO:0018105 "UMLS:CN184630" +MONDO:0018105 "ICD10CM:E13.8" MONDO:0018105 "DOID:10632" MONDO:0018105 "GARD:0007898" MONDO:0018105 "UMLS:C0043207" MONDO:0018105 "NCIT:C35133" -MONDO:0018105 "ICD10:E13.8" MONDO:0018105 "Orphanet:3463" MONDO:0018105 "OMIM:604928" MONDO:0018105 "MESH:D014929" MONDO:0018105 "OMIM:222300" MONDO:0018105 "SCTID:70694009" -MONDO:0017816 "ICD10:E85.3" -MONDO:0017816 "ICD10:E85.0" MONDO:0017816 "UMLS:C0268380" +MONDO:0017816 "ICD10CM:E85.2" MONDO:0017816 "SCTID:89449005" MONDO:0017816 "NCIT:C8299" -MONDO:0017816 "ICD10:E85.1" +MONDO:0017816 "ICD10CM:E85.3" +MONDO:0017816 "ICD10CM:E85.0" MONDO:0017816 "OMIM:254500" -MONDO:0017816 "ICD10:E85.2" +MONDO:0017816 "ICD10CM:E85.1" MONDO:0017816 "Orphanet:314701" MONDO:0017816 "UMLS:C0281479" NCBITaxon:41011 "GC_ID:1" -MONDO:0001372 "ICD10:C67.5" MONDO:0001372 "DOID:11809" MONDO:0001372 "SCTID:188244007" MONDO:0001372 "ICD9:188.5" @@ -77602,10 +75672,10 @@ MONDO:0030911 "DOID:0080237" MONDO:0020437 "MESH:C548006" MONDO:0020437 "UMLS:C0031192" MONDO:0020437 "GARD:0010695" -MONDO:0020437 "ICD10:Q21.2" MONDO:0020437 "SCTID:17718000" MONDO:0020437 "Orphanet:99106" MONDO:0020437 "MESH:D006344" +MONDO:0020437 "ICD10CM:Q21.2" NCBITaxon:10379 "GC_ID:1" HP:0000745 "SNOMEDCT_US:277521002" HP:0000745 "UMLS:C0456814" @@ -77615,18 +75685,17 @@ CL:0002072 "BTO:0004190" CL:0002072 "FMA:67101" MONDO:0018420 "UMLS:CN226127" MONDO:0018420 "Orphanet:401825" -MONDO:0018420 "ICD10:G11.4" +MONDO:0018420 "ICD10CM:G11.4" NCBITaxon:151340 "PMID:20206957" NCBITaxon:151340 "GC_ID:1" -MONDO:0001255 "ICD10:J67.7" MONDO:0001255 "ICD9:495.7" MONDO:0001255 "UMLS:C0155891" MONDO:0001255 "SCTID:195990006" MONDO:0001255 "DOID:11289" -MONDO:0007158 "ICD10:Q68.8" MONDO:0007158 "Orphanet:1154" MONDO:0007158 "UMLS:C1862472" MONDO:0007158 "UMLS:C1834523" +MONDO:0007158 "ICD10CM:Q68.8" MONDO:0007158 "OMIM:108145" MONDO:0007158 "GARD:0004047" MONDO:0007158 "SCTID:715217004" @@ -77641,32 +75710,29 @@ MONDO:0033486 "OMIM:617899" MONDO:0033486 "DOID:0080296" MONDO:0010723 "UMLS:C2681923" MONDO:0010723 "DOID:0110415" -MONDO:0010723 "ICD10:H35.5" MONDO:0010723 "OMIM:312600" MONDO:0010723 "MESH:C567523" MONDO:0010723 "Orphanet:791" MONDO:0001857 "ICD9:023.3" -MONDO:0001857 "ICD10:A23.3" MONDO:0001857 "DOID:14019" MONDO:0001857 "UMLS:C0494040" MONDO:0001857 "SCTID:428174001" MONDO:0019452 "UMLS:C1333046" MONDO:0019452 "OMIM:131440" +MONDO:0019452 "ICD10CM:D47.1" MONDO:0019452 "NCIT:C27350" MONDO:0019452 "ICDO:9975/3" -MONDO:0019452 "ICD10:D47.1" MONDO:0019452 "Orphanet:86830" -CL:0000381 "FBbt:00005130" MONDO:0019105 "EFO:1001838" MONDO:0019105 "SCTID:717267005" MONDO:0019105 "Orphanet:71273" MONDO:0019105 "MESH:D059228" MONDO:0019105 "GARD:0011971" MONDO:0019105 "UMLS:C3178770" +CL:0000381 "FBbt:00005130" +MONDO:0015388 "ICD10CM:Q30.8" MONDO:0015388 "SCTID:716279002" MONDO:0015388 "Orphanet:141091" -MONDO:0015388 "ICD10:Q30.8" -MONDO:0009796 "ICD10:E72.4" MONDO:0009796 "OMIM:258870" MONDO:0009796 "Orphanet:414" MONDO:0009796 "MESH:D015799" @@ -77676,6 +75742,7 @@ MONDO:0009796 "UMLS:C0018425" MONDO:0009796 "GARD:0007272" MONDO:0009796 "DOID:1415" MONDO:0009796 "GARD:0006556" +MONDO:0009796 "ICD10CM:E72.4" MONDO:0021632 "ONCOTREE:PBT" MONDO:0021632 "NCIT:C4952" MONDO:0013288 "Orphanet:33110" @@ -77690,7 +75757,6 @@ MONDO:0005376 "EFO:0004254" MONDO:0005376 "UMLS:C0017665" MONDO:0005376 "MESH:D015433" MONDO:0005376 "ICD9:583.1" -MONDO:0005376 "ICD10:N03.2" MONDO:0006322 "UMLS:C3275160" MONDO:0006322 "EFO:1000400" MONDO:0006322 "NCIT:C35774" @@ -77721,7 +75787,7 @@ MONDO:0019088 "NCIT:C4727" MONDO:0019088 "SCTID:254290004" MONDO:0019088 "Orphanet:70568" MONDO:0019088 "ICDO:9971/1" -MONDO:0019088 "ICD10:D47.9" +MONDO:0019088 "ICD10CM:D47.9" MONDO:0019088 "UMLS:C0432487" MONDO:0019088 "MedDRA:10051358" MONDO:0019088 "GARD:0009553" @@ -77737,7 +75803,7 @@ MONDO:0000935 "UMLS:C0240164" MONDO:0000935 "DOID:10071" MONDO:0000935 "NCIT:C7742" MONDO:0007416 "SCTID:26121002" -MONDO:0007416 "ICD10:N15.0" +MONDO:0007416 "ICD10CM:N15.0" MONDO:0007416 "NCIT:C123025" MONDO:0007416 "UMLS:C4049993" MONDO:0007416 "GARD:0008576" @@ -77751,16 +75817,14 @@ MONDO:0007416 "UMLS:C0004698" MONDO:0032756 "OMIM:618447" MONDO:0017525 "UMLS:CN203256" MONDO:0017525 "Orphanet:295148" -MONDO:0017525 "ICD10:Q69.1" +MONDO:0017525 "ICD10CM:Q69.1" MONDO:0049223 "OMIM:301014" MONDO:0049223 "UMLS:CN252653" MONDO:0006615 "EFO:1000772" -MONDO:0006615 "ICD10:L74.9" MONDO:0006615 "UMLS:C0038986" MONDO:0006615 "DOID:1383" MONDO:0006615 "ICD9:705.9" MONDO:0006615 "MESH:D013543" -MONDO:0006615 "ICD10:L74" MONDO:0006615 "ICD9:705" MONDO:0006615 "ICD9:705.89" MONDO:0006615 "SCTID:88232005" @@ -77783,7 +75847,6 @@ MONDO:0004247 "SCTID:13200003" MONDO:0004247 "UMLS:C0030920" MONDO:0004247 "ICD9:533" MONDO:0004247 "DOID:750" -MONDO:0004247 "ICD10:K27" MONDO:0004247 "NCIT:C3318" MONDO:0004247 "MESH:D010437" NCBITaxon:194924 "PMID:16403855" @@ -77791,22 +75854,21 @@ NCBITaxon:194924 "GC_ID:11" NCBITaxon:53467 "GC_ID:1" MONDO:0016766 "GARD:0012344" MONDO:0016766 "Orphanet:254367" +MONDO:0017712 "ICD10CM:K90.3" MONDO:0017712 "OMIM:614338" -MONDO:0017712 "ICD10:K90.3" MONDO:0017712 "Orphanet:309111" MONDO:0005603 "EFO:0006471" MONDO:0004833 "MESH:D036981" -MONDO:0004833 "EFO:1001909" MONDO:0004833 "SCTID:202882003" -MONDO:0004833 "ICD10:M72.2" +MONDO:0004833 "EFO:1001909" MONDO:0004833 "DOID:9600" MONDO:0004833 "UMLS:C0149756" -MONDO:0009345 "ICD10:E70.41" -MONDO:0009345 "ICD10:E70.8" +MONDO:0009345 "ICD10CM:E70.41" MONDO:0009345 "OMIM:235800" MONDO:0009345 "MESH:C538320" MONDO:0009345 "Orphanet:2157" MONDO:0009345 "DOID:0060168" +MONDO:0009345 "ICD10CM:E70.8" MONDO:0009345 "GARD:0006661" MONDO:0009345 "UMLS:C0220992" MONDO:0009345 "SCTID:410058007" @@ -77825,10 +75887,10 @@ MONDO:0011872 "MESH:C537302" MONDO:0011872 "Orphanet:79477" MONDO:0011872 "NCIT:C111814" MONDO:0011872 "GARD:0004483" -MONDO:0011872 "ICD10:E70.3" MONDO:0011872 "UMLS:C1868679" MONDO:0011872 "OMIM:607624" MONDO:0011872 "Orphanet:381" +MONDO:0011872 "ICD10CM:E70.3" MONDO:0011872 "DOID:0060833" MONDO:0006836 "EFO:1001021" MONDO:0006836 "ICD9:320.7" @@ -77845,10 +75907,10 @@ MONDO:0002509 "UMLS:C0436545" MONDO:0017818 "UMLS:CN203788" MONDO:0017818 "Orphanet:314718" MONDO:0004187 "UMLS:C0410005" +MONDO:0004187 "ICD10CM:M72.4" MONDO:0004187 "NCIT:C3827" MONDO:0004187 "DOID:7327" MONDO:0004187 "Orphanet:477742" -MONDO:0004187 "ICD10:M72.4" MONDO:0004187 "ICD9:728.79" MONDO:0004187 "SCTID:400138001" NCBITaxon:693995 "GC_ID:1" @@ -77864,9 +75926,9 @@ MONDO:0001678 "DOID:13282" MONDO:0001678 "ICD9:014.80" MONDO:0001678 "SCTID:60136008" MONDO:0001678 "ICD9:014.8" -MONDO:0008205 "ICD10:Q74.1" MONDO:0008205 "Orphanet:86789" MONDO:0008205 "GARD:0008709" +MONDO:0008205 "ICD10CM:Q74.1" MONDO:0008205 "OMIM:168860" MONDO:0008205 "MESH:C535568" MONDO:0002624 "DOID:3367" @@ -77876,7 +75938,6 @@ MONDO:0010470 "OMIM:300881" HP:0045014 "UMLS:C0342892" HP:0045014 "SNOMEDCT_US:238090007" MONDO:0022622 "GARD:0001174" -MONDO:0007008 "ICD10:N19" MONDO:0007008 "UMLS:C0041948" MONDO:0007008 "MESH:D014511" MONDO:0007008 "EFO:1001226" @@ -77891,17 +75952,14 @@ MONDO:0024387 "UMLS:C1332528" MONDO:0024387 "DOID:0080370" MONDO:0013912 "UMLS:C3553843" MONDO:0013912 "OMIM:614839" -MONDO:0013912 "ICD10:E23.0" MONDO:0013912 "DOID:0090089" MONDO:0032758 "OMIM:618451" +MONDO:0015637 "ICD10CM:G40.4" MONDO:0015637 "Orphanet:166295" MONDO:0015637 "UMLS:CN226716" -MONDO:0015637 "ICD10:G40.4" MONDO:0009692 "MESH:D055728" MONDO:0009692 "UMLS:C2355576" -MONDO:0009692 "ICD10:D75.81" MONDO:0009692 "GARD:0008618" -MONDO:0009692 "ICD10:D47.4" MONDO:0009692 "ICD9:289.83" MONDO:0009692 "EFO:0002430" MONDO:0009692 "ICDO:9961/3" @@ -77913,10 +75971,11 @@ MONDO:0009692 "UMLS:C0948968" MONDO:0009692 "Orphanet:824" MONDO:0009692 "NCIT:C2862" MONDO:0009692 "DOID:4971" +MONDO:0009692 "ICD10CM:D47.4" MONDO:0037735 "UMLS:C1382026" MONDO:0037735 "NCIT:C8409" MONDO:0009607 "Orphanet:168598" -MONDO:0009607 "ICD10:E72.1" +MONDO:0009607 "ICD10CM:E72.1" MONDO:0009607 "OMIM:250850" MONDO:0009607 "NCIT:C123435" MONDO:0009607 "GARD:0008397" @@ -77927,18 +75986,19 @@ MONDO:0014633 "Orphanet:1942" MONDO:0014633 "UMLS:C4085238" MONDO:0024574 "NCIT:C68677" MONDO:0024574 "SCTID:128105004" -MONDO:0024574 "ICD10:D68.0" +MONDO:0024574 "ICD10CM:D68.0" MONDO:0024574 "ICD9:286.4" MONDO:0024574 "UMLS:C0042974" MONDO:0024574 "MESH:D014842" +MONDO:0033651 "OMIM:619060" MONDO:0015167 "NCIT:C84552" MONDO:0015167 "MESH:D000652" +MONDO:0015167 "ICD10CM:Q79.8" MONDO:0015167 "GARD:0000429" MONDO:0015167 "SCTID:440214006" MONDO:0015167 "Orphanet:1034" -MONDO:0015167 "ICD10:Q79.8" -MONDO:0033651 "OMIM:619060" MONDO:0030498 "OMIM:619652" +MONDO:0016241 "ICD10CM:G98" MONDO:0016241 "NCIT:C35261" MONDO:0016241 "OMIM:614820" MONDO:0016241 "Orphanet:2131" @@ -77948,18 +76008,17 @@ MONDO:0016241 "OMIM:104290" MONDO:0016241 "SCTID:230466004" MONDO:0016241 "UMLS:C0338488" MONDO:0016241 "MESH:C536589" -MONDO:0016241 "ICD10:G98" MONDO:0016241 "GARD:0000011" MONDO:0012289 "DOID:0080096" +MONDO:0012289 "ICD10CM:G71.8" MONDO:0012289 "MESH:C537932" MONDO:0012289 "Orphanet:171445" MONDO:0012289 "OMIM:609524" -MONDO:0012289 "ICD10:G71.8" MONDO:0019758 "OMIM:610829" MONDO:0019758 "Orphanet:93926" +MONDO:0019758 "ICD10CM:Q04.2" MONDO:0019758 "OMIM:157170" MONDO:0019758 "UMLS:CN206692" -MONDO:0019758 "ICD10:Q04.2" MONDO:0019758 "OMIM:609637" MONDO:0012924 "MESH:C567281" MONDO:0012924 "UMLS:C2675860" @@ -77979,10 +76038,10 @@ MONDO:0003111 "Orphanet:100075" MONDO:0003111 "NCIT:C5696" MONDO:0013621 "UMLS:C3280113" MONDO:0013621 "Orphanet:306507" -MONDO:0013621 "ICD10:N04.8" MONDO:0013621 "OMIM:614199" +MONDO:0013621 "ICD10CM:N04.8" MONDO:0020007 "Orphanet:980" -MONDO:0020007 "ICD10:Q25.7" +MONDO:0020007 "ICD10CM:Q25.7" MONDO:0020007 "UMLS:CN206941" MONDO:0004436 "DOID:8023" MONDO:0004436 "UMLS:C1335170" @@ -77994,11 +76053,11 @@ MONDO:0005994 "MESH:D014252" CL:0000738 "BTO:0000751" CL:0000738 "FMA:62852" CL:0000738 "CALOHA:TS-0549" +MONDO:0017682 "ICD10CM:Q87.2" MONDO:0017682 "MESH:C537615" MONDO:0017682 "GARD:0003141" MONDO:0017682 "UMLS:C2931547" MONDO:0017682 "Orphanet:3082" -MONDO:0017682 "ICD10:Q87.2" MONDO:0013242 "SCTID:609578001" MONDO:0013242 "UMLS:C3150618" MONDO:0013242 "OMIM:613375" @@ -78007,8 +76066,8 @@ MONDO:0013242 "DOID:0111109" MONDO:0009491 "GARD:0000044" MONDO:0009491 "MESH:C537627" MONDO:0009491 "SCTID:719973009" +MONDO:0009491 "ICD10CM:Q82.8" MONDO:0009491 "UMLS:C1855627" -MONDO:0009491 "ICD10:Q82.8" MONDO:0009491 "OMIM:245010" MONDO:0009491 "Orphanet:2342" MONDO:0011304 "MESH:C566394" @@ -78016,21 +76075,20 @@ MONDO:0011304 "UMLS:C1864041" MONDO:0011304 "OMIM:603284" MONDO:0011304 "DOID:0060670" MONDO:0011304 "Orphanet:221061" -MONDO:0011304 "ICD10:Q28.3" HP:0011042 "UMLS:C4023575" MONDO:0012862 "OMIM:612311" MONDO:0013504 "Orphanet:399805" MONDO:0013504 "OMIM:613957" MONDO:0013504 "UMLS:C3151406" MONDO:0013504 "DOID:0070169" -MONDO:0021476 "ICD10:D10.1" MONDO:0021476 "UMLS:C0153933" MONDO:0021476 "SCTID:92443005" MONDO:0021476 "ICD9:210.1" MONDO:0021476 "NCIT:C3592" +MONDO:0021476 "ICD10CM:D10.1" MONDO:0015533 "ICD9:216.8" MONDO:0015533 "UMLS:C0347403" -MONDO:0015533 "ICD10:D76.3" +MONDO:0015533 "ICD10CM:D76.3" MONDO:0015533 "Orphanet:157997" MONDO:0015533 "SCTID:255192005" CL:0002365 "BTO:0004563" @@ -78043,19 +76101,17 @@ MONDO:0001457 "SCTID:60676002" MONDO:0001457 "UMLS:C0154859" MONDO:0001457 "DOID:12167" MONDO:0001457 "ICD9:362.66" -MONDO:0001457 "ICD10:H35.46" MONDO:0002403 "NCIT:C6531" MONDO:0002403 "DOID:2706" MONDO:0002403 "UMLS:C1334624" -MONDO:0023655 "OMIM:619281" MONDO:0011460 "UMLS:C1858378" MONDO:0011460 "OMIM:604401" MONDO:0011460 "DOID:0110075" -MONDO:0011460 "ICD10:I42.8" MONDO:0011460 "MESH:C565775" MONDO:0011460 "Orphanet:217656" +MONDO:0023655 "OMIM:619281" MONDO:0022401 "GARD:0000572" -MONDO:0012745 "ICD10:I42.0" +MONDO:0012745 "ICD10CM:I42.0" MONDO:0012745 "DOID:0110434" MONDO:0012745 "Orphanet:154" MONDO:0012745 "OMIM:611879" @@ -78080,7 +76136,7 @@ MONDO:0009124 "NCIT:C125591" MONDO:0009124 "SCTID:2593002" MONDO:0009124 "Orphanet:235" MONDO:0009124 "OMIM:223370" -MONDO:0009124 "ICD10:Q87.1" +MONDO:0009124 "ICD10CM:Q87.1" MONDO:0009124 "GARD:0006290" MONDO:0009124 "UMLS:C0175691" MONDO:0009124 "DOID:14796" @@ -78090,9 +76146,9 @@ MONDO:0016974 "UMLS:C1328042" MONDO:0016974 "NCIT:C7114" MONDO:0016974 "Orphanet:263317" MONDO:0016974 "UMLS:CN202276" -MONDO:0016974 "ICD10:D15.0" +MONDO:0016974 "ICD10CM:C37" +MONDO:0016974 "ICD10CM:D15.0" MONDO:0016974 "DOID:3282" -MONDO:0016974 "ICD10:C37" MONDO:0016627 "UMLS:CN226978" MONDO:0016627 "Orphanet:248308" MONDO:0006481 "UMLS:C0600079" @@ -78104,11 +76160,11 @@ MONDO:0013727 "EFO:0008899" MONDO:0013727 "OMIM:614389" MONDO:0009998 "UMLS:C1849348" MONDO:0009998 "GARD:0004718" +MONDO:0009998 "ICD10CM:Q87.8" MONDO:0009998 "SCTID:723998001" MONDO:0009998 "Orphanet:3102" MONDO:0009998 "MESH:C535677" MONDO:0009998 "OMIM:268305" -MONDO:0009998 "ICD10:Q87.8" MONDO:0021508 "NCIT:C8535" MONDO:0021508 "UMLS:C0685115" MONDO:0021508 "SCTID:92087008" @@ -78122,7 +76178,7 @@ MONDO:0002898 "ICD9:173.8" MONDO:0002898 "NCIT:C2920" MONDO:0002898 "SCTID:372130007" MONDO:0002898 "DOID:4159" -MONDO:0002898 "ICD10:C43.C44" +MONDO:0002898 "ICD10CM:C43-C44" MONDO:0002898 "ICD9:173.9" CL:1000716 "KUPO:0001132" MONDO:0002919 "DOID:4211" @@ -78131,12 +76187,11 @@ MONDO:0002919 "NCIT:C6775" MONDO:0010787 "NCIT:C84798" MONDO:0010787 "MESH:D007625" MONDO:0010787 "Orphanet:480" -MONDO:0010787 "ICD10:H49.81" -MONDO:0010787 "ICD10:H49.8" MONDO:0010787 "DOID:12934" MONDO:0010787 "GARD:0006817" MONDO:0010787 "SCTID:25792000" MONDO:0010787 "MedDRA:10048804" +MONDO:0010787 "ICD10CM:H49.8" MONDO:0010787 "UMLS:C0022541" MONDO:0010787 "OMIM:530000" NCBITaxon:2497576 "GC_ID:1" @@ -78147,7 +76202,6 @@ HP:0100852 "UMLS:C4018849" MONDO:0010963 "Orphanet:90635" MONDO:0010963 "OMIM:600965" MONDO:0010963 "DOID:0110584" -MONDO:0010963 "ICD10:H90.3" MONDO:0010963 "UMLS:C1833021" MONDO:0010963 "MESH:C563421" MONDO:0024237 "UMLS:C3273225" @@ -78155,19 +76209,19 @@ MONDO:0024237 "UMLS:CN200549" MONDO:0024237 "NCIT:C97073" MONDO:0024237 "MESH:D020271" MONDO:0024237 "Orphanet:183500" -MONDO:0017231 "ICD10:E80.2" +MONDO:0017231 "ICD10CM:E80.2" MONDO:0017231 "Orphanet:280379" MONDO:0017231 "GARD:0010948" MONDO:0013914 "DOID:0090072" MONDO:0013914 "MESH:C535764" -MONDO:0013914 "ICD10:E23.0" +MONDO:0013914 "OMIM:227200" MONDO:0013914 "UMLS:C1856897" MONDO:0013914 "OMIM:614841" MONDO:0013914 "GARD:0000276" NCBITaxon:5811 "GC_ID:1" MONDO:0022949 "GARD:0001720" MONDO:0001886 "DOID:14131" -MONDO:0001886 "ICD10:N81.11" +MONDO:0001886 "ICD10CM:N81.11" MONDO:0001886 "SCTID:423633003" MONDO:0001886 "UMLS:C1456248" MONDO:0001886 "ICD9:618.01" @@ -78182,13 +76236,13 @@ MONDO:0010819 "Orphanet:827" MONDO:0010819 "UMLS:C1838644" MONDO:0005426 "EFO:0004715" MONDO:0007626 "UMLS:C1850996" -MONDO:0007626 "ICD10:H49.1" MONDO:0007626 "MESH:C565007" MONDO:0007626 "GARD:0010355" +MONDO:0007626 "ICD10CM:H49.1" MONDO:0007626 "OMIM:136480" MONDO:0007626 "Orphanet:91498" +MONDO:0018672 "ICD10CM:I77.6" MONDO:0018672 "Orphanet:449400" -MONDO:0018672 "ICD10:I77.6" MONDO:0014236 "OMIM:615539" MONDO:0014236 "Orphanet:2953" MONDO:0014236 "UMLS:C3809845" @@ -78206,7 +76260,7 @@ MONDO:0023204 "Orphanet:272" MONDO:0016219 "Orphanet:2104" MONDO:0016219 "GARD:0000352" MONDO:0016219 "UMLS:CN237430" -MONDO:0016219 "ICD10:Q87.8" +MONDO:0016219 "ICD10CM:Q87.8" HP:0012735 "SNOMEDCT_US:263731006" HP:0012735 "MSH:D003371" HP:0012735 "SNOMEDCT_US:272039006" @@ -78222,8 +76276,6 @@ MONDO:0002373 "SCTID:254825007" MONDO:0002373 "DOID:2645" MONDO:0002373 "ICD9:215.9" MONDO:0002373 "UMLS:C0348424" -MONDO:0002373 "ICD10:C45.9" -MONDO:0002373 "ICD10:C45" MONDO:0024645 "NCIT:C3357" MONDO:0044254 "OMIM:221780" MONDO:0002783 "UMLS:C0037018" @@ -78240,7 +76292,6 @@ MONDO:0060777 "NCIT:C40200" MONDO:0013506 "DOID:0070092" MONDO:0013506 "OMIM:613959" MONDO:0013506 "UMLS:C3151408" -MONDO:0007471 "ICD10:H35.5" MONDO:0007471 "GARD:0001912" MONDO:0007471 "UMLS:C1832174" MONDO:0007471 "DOID:0060745" @@ -78248,6 +76299,7 @@ MONDO:0007471 "Orphanet:75376" MONDO:0007471 "SCTID:193411004" MONDO:0007471 "UMLS:C1852020" MONDO:0007471 "OMIM:126700" +MONDO:0007471 "ICD10CM:H35.5" MONDO:0007471 "OMIM:126600" MONDO:0007471 "UMLS:CN205694" MONDO:0008802 "OMIM:207300" @@ -78257,7 +76309,7 @@ MONDO:0013895 "UMLS:C3553748" MONDO:0013895 "OMIM:614814" MONDO:0013895 "Orphanet:974" MONDO:0016085 "OMIMPS:112240" -MONDO:0016085 "ICD10:Q78.0" +MONDO:0016085 "ICD10CM:Q78.0" MONDO:0016085 "UMLS:C1862178" MONDO:0016085 "DOID:0060438" MONDO:0016085 "NCIT:C130985" @@ -78269,37 +76321,38 @@ MONDO:0016085 "MESH:C535963" MONDO:0019461 "NCIT:C4753" MONDO:0019461 "UMLS:C0475801" MONDO:0019461 "MESH:D054403" +MONDO:0019461 "ICD10CM:C91.3" MONDO:0019461 "Orphanet:86852" MONDO:0019461 "ONCOTREE:BPLL" MONDO:0019461 "ICDO:9833/3" MONDO:0019461 "SCTID:277619001" -MONDO:0019461 "ICD10:C91.3" MONDO:0019461 "EFO:1000102" -MONDO:0008199 "SCTID:716662004" +MONDO:0008199 "ICD10CM:G20" +MONDO:0008199 "UMLS:C3160718" +MONDO:0008199 "OMIM:168601" MONDO:0008199 "OMIM:607688" +MONDO:0008199 "OMIM:616361" +MONDO:0008199 "Orphanet:411602" +MONDO:0008199 "SCTID:716662004" MONDO:0008199 "OMIM:607060" -MONDO:0008199 "OMIM:168601" -MONDO:0008199 "ICD10:G20" -MONDO:0008199 "DOID:0060892" -MONDO:0008199 "OMIM:605543" MONDO:0008199 "OMIM:168600" MONDO:0008199 "OMIM:614203" +MONDO:0008199 "DOID:0060892" MONDO:0008199 "OMIM:614251" -MONDO:0008199 "Orphanet:411602" -MONDO:0008199 "UMLS:C3160718" -MONDO:0008199 "OMIM:616361" +MONDO:0008199 "OMIM:605543" MONDO:0002970 "NCIT:C35775" MONDO:0002970 "UMLS:C0271100" MONDO:0002970 "SCTID:68575007" MONDO:0002970 "DOID:4353" +MONDO:0002970 "ICD10CM:H15-H22" MONDO:0018264 "DOID:0080614" MONDO:0018264 "UMLS:C3805375" -MONDO:0018264 "ICD10:E70.3" MONDO:0018264 "OMIM:113750" +MONDO:0018264 "ICD10CM:E70.3" MONDO:0018264 "Orphanet:370097" MONDO:0018264 "SCTID:722058005" -MONDO:0017010 "ICD10:Q99.8" MONDO:0017010 "Orphanet:263783" +MONDO:0017010 "ICD10CM:Q99.8" MONDO:0017010 "GARD:0005369" MONDO:0017010 "MESH:C536732" MONDO:0017010 "UMLS:C0795891" @@ -78310,15 +76363,12 @@ MONDO:0004131 "UMLS:C1332278" MONDO:0004131 "NCIT:C7470" MONDO:0007354 "GARD:0008502" MONDO:0007354 "SCTID:17541006" -MONDO:0007354 "ICD10:Q14.2" MONDO:0007354 "HP:0000588" MONDO:0007354 "Orphanet:35737" MONDO:0007354 "MESH:C535970" -MONDO:0007354 "ICD10:H47.31" MONDO:0007354 "DOID:11975" MONDO:0007354 "OMIM:120430" MONDO:0007354 "ICD9:377.23" -MONDO:0007354 "ICD10:H47.319" MONDO:0008418 "Orphanet:90290" MONDO:0008418 "Orphanet:90291" MONDO:0008418 "OMIM:181750" @@ -78327,31 +76377,31 @@ MONDO:0008418 "UMLS:C0206138" MONDO:0100243 "OMIMPS:300818" MONDO:0100243 "OMIM:615399" MONDO:0100243 "OMIM:300818" -MONDO:0010683 "ICD10:G71.2" MONDO:0010683 "Orphanet:596" MONDO:0010683 "SCTID:46804001" MONDO:0010683 "NCIT:C118781" MONDO:0010683 "UMLS:C0410203" +MONDO:0010683 "ICD10CM:G71.2" MONDO:0010683 "DOID:0111225" MONDO:0010683 "OMIM:310400" MONDO:0010683 "GARD:0011925" MONDO:0033682 "Orphanet:508533" -MONDO:0016272 "ICD10:C54.1" +MONDO:0016272 "ICD10CM:C54.1" MONDO:0016272 "Orphanet:213746" -MONDO:0043125 "GARD:0003431" -MONDO:0043125 "MESH:C538161" -MONDO:0043125 "UMLS:C2931751" -MONDO:0019789 "ICD10:M35.8" +MONDO:0019789 "ICD10CM:M35.8" MONDO:0019789 "Orphanet:94087" MONDO:0019789 "SCTID:238883003" MONDO:0019789 "UMLS:C0406594" MONDO:0014960 "UMLS:C4310675" MONDO:0014960 "OMIMPS:617186" +MONDO:0043125 "GARD:0003431" +MONDO:0043125 "MESH:C538161" +MONDO:0043125 "UMLS:C2931751" MONDO:0044683 "Orphanet:498700" MONDO:0002196 "ICD9:777.6" -MONDO:0002196 "ICD10:P78.0" MONDO:0002196 "UMLS:C0159006" MONDO:0002196 "DOID:2073" +MONDO:0002196 "ICD10CM:P78.0" MONDO:0002196 "SCTID:65390006" MONDO:0008099 "OMIM:163500" MONDO:0008099 "Orphanet:215" @@ -78363,27 +76413,26 @@ MONDO:0028618 "Orphanet:481508" MONDO:0015052 "Orphanet:100049" MONDO:0015052 "UMLS:CN197343" MONDO:0010789 "UMLS:C0162671" -MONDO:0010789 "ICD10:G71.3" MONDO:0010789 "DOID:3687" MONDO:0010789 "Orphanet:550" +MONDO:0010789 "ICD10CM:G71.3" MONDO:0010789 "MESH:D017241" MONDO:0010789 "OMIM:540000" MONDO:0010789 "ICD9:277.87" MONDO:0010789 "MedDRA:10053872" MONDO:0010789 "NCIT:C84885" +MONDO:0010789 "ICD10CM:E88.41" MONDO:0010789 "SCTID:39925003" MONDO:0010789 "GARD:0007009" -MONDO:0010789 "ICD10:E88.41" MONDO:0008386 "UMLS:C3714873" MONDO:0008386 "DOID:0110120" MONDO:0008386 "Orphanet:782" MONDO:0008386 "NCIT:C75015" MONDO:0008386 "OMIM:180500" -MONDO:0008386 "ICD10:Q13.8" MONDO:0001830 "DOID:13918" MONDO:0001830 "ICD9:300.81" MONDO:0001830 "MESH:D013001" -MONDO:0001830 "ICD10:F45.0" +MONDO:0001830 "ICD10CM:F45.0" MONDO:0001830 "SCTID:397923000" MONDO:0007733 "DOID:0110875" MONDO:0007733 "OMIM:142945" @@ -78391,7 +76440,7 @@ MONDO:0007733 "UMLS:C1840529" MONDO:0007733 "MESH:C564181" MONDO:0007733 "Orphanet:2162" MONDO:0011735 "Orphanet:183663" -MONDO:0011735 "ICD10:D80.5" +MONDO:0011735 "ICD10CM:D80.5" MONDO:0011735 "Orphanet:101090" MONDO:0011735 "GARD:0010579" MONDO:0011735 "OMIM:606843" @@ -78402,9 +76451,9 @@ MONDO:0005572 "DOID:2835" MONDO:0005572 "EFO:0005805" MONDO:0009859 "UMLS:C1849928" MONDO:0009859 "SCTID:723453002" +MONDO:0009859 "ICD10CM:Q87.8" MONDO:0009859 "Orphanet:2876" MONDO:0009859 "MESH:C538357" -MONDO:0009859 "ICD10:Q87.8" MONDO:0009859 "GARD:0004465" MONDO:0009859 "OMIM:261575" MONDO:0010566 "OMIM:304020" @@ -78427,13 +76476,13 @@ MONDO:0001184 "DOID:11036" MONDO:0001184 "UMLS:C0341694" MONDO:0001184 "SCTID:197614002" MONDO:0001184 "ICD9:582.4" -MONDO:0017209 "ICD10:H20.0" MONDO:0017209 "Orphanet:279919" -MONDO:0012057 "OMIM:608556" -MONDO:0012057 "GARD:0006876" +MONDO:0017209 "ICD10CM:H20.0" MONDO:0016493 "Orphanet:231413" +MONDO:0016493 "ICD10CM:G61.0" MONDO:0016493 "UMLS:CN201495" -MONDO:0016493 "ICD10:G61.0" +MONDO:0012057 "OMIM:608556" +MONDO:0012057 "GARD:0006876" MONDO:0004560 "SCTID:254694002" MONDO:0004560 "NCIT:C4469" MONDO:0004560 "ICD9:239.2" @@ -78444,9 +76493,9 @@ MONDO:0013444 "UMLS:C3151188" MONDO:0013444 "Orphanet:655" MONDO:0013444 "DOID:0111120" MONDO:0011170 "MESH:C566599" -MONDO:0011170 "ICD10:G71.0" MONDO:0011170 "GARD:0010471" MONDO:0011170 "DOID:0110281" +MONDO:0011170 "ICD10CM:G71.0" MONDO:0011170 "SCTID:720522001" MONDO:0011170 "OMIM:601954" MONDO:0011170 "Orphanet:34514" @@ -78463,36 +76512,36 @@ NCBITaxon:693762 "GC_ID:1" MONDO:0019808 "NCIT:C98818" MONDO:0019808 "MedDRA:10066801" MONDO:0019808 "Orphanet:95448" -MONDO:0019808 "ICD10:Q23.0" +MONDO:0019808 "ICD10CM:Q23.0" MONDO:0019808 "SCTID:51442005" MONDO:0019808 "HP:0010883" +MONDO:0017721 "ICD10CM:E75.0" MONDO:0017721 "Orphanet:309155" -MONDO:0017721 "ICD10:E75.0" MONDO:0017721 "OMIM:268800" MONDO:0017721 "UMLS:CN203617" MONDO:0020130 "Orphanet:98514" MONDO:0002562 "NCIT:C34527" -MONDO:0002562 "ICD10:G35.G37" MONDO:0002562 "UMLS:C0011303" +MONDO:0002562 "ICD10CM:G35-G37" MONDO:0002562 "DOID:3213" MONDO:0002562 "MESH:D003711" MONDO:0018958 "UMLS:C0206157" -MONDO:0018958 "DOID:3191" MONDO:0018958 "SCTID:75072002" +MONDO:0018958 "DOID:3191" +MONDO:0018958 "ICD10CM:G71.2" MONDO:0018958 "Orphanet:607" MONDO:0018958 "OMIMPS:161800" MONDO:0018958 "MESH:D017696" MONDO:0018958 "GARD:0012033" -MONDO:0018958 "ICD10:G71.2" MONDO:0022560 "GARD:0010776" MONDO:0017895 "UMLS:C3896673" MONDO:0017895 "OMIM:188470" MONDO:0017895 "Orphanet:319487" MONDO:0017895 "OMIM:603744" MONDO:0017895 "OMIM:616534" +MONDO:0017895 "ICD10CM:C73" MONDO:0017895 "OMIM:603386" MONDO:0017895 "NCIT:C118829" -MONDO:0017895 "ICD10:C73" MONDO:0017895 "OMIM:616535" MONDO:0017895 "OMIM:188550" MONDO:0017895 "OMIM:606240" @@ -78500,41 +76549,41 @@ MONDO:0017895 "UMLS:CN227215" MONDO:0010275 "GARD:0004891" MONDO:0010275 "MESH:C536671" MONDO:0010275 "OMIM:300232" -MONDO:0010275 "ICD10:Q77.7" MONDO:0010275 "MESH:C567065" MONDO:0010275 "Orphanet:168448" -MONDO:0010275 "ICD10:G11.4" +MONDO:0010275 "ICD10CM:G11.4" MONDO:0010275 "UMLS:C1846148" +MONDO:0010275 "ICD10CM:Q77.7" MONDO:0013498 "UMLS:C3151380" MONDO:0013498 "DOID:0070091" MONDO:0013498 "OMIM:613950" -MONDO:0009061 "ICD10:E84.9" -MONDO:0009061 "ICD10:E84.1" -MONDO:0009061 "ICD10:E84.8" -MONDO:0009061 "ICD10:E84.0" +MONDO:0009061 "ICD10CM:E84.9" +MONDO:0009061 "ICD10CM:E84.1" MONDO:0009061 "OMIM:219700" MONDO:0009061 "MESH:D003550" MONDO:0009061 "Orphanet:586" +MONDO:0009061 "ICD10CM:E84" MONDO:0009061 "MedDRA:10011762" -MONDO:0009061 "ICD10:E84" MONDO:0009061 "DOID:1485" MONDO:0009061 "UMLS:C0010674" MONDO:0009061 "GARD:0006233" MONDO:0009061 "SCTID:190905008" MONDO:0009061 "ICD9:277.0" MONDO:0009061 "NCIT:C2975" +MONDO:0009061 "ICD10CM:E84.0" +MONDO:0009061 "ICD10CM:E84.8" MONDO:0013327 "DOID:0111672" MONDO:0013327 "SCTID:734990008" MONDO:0013327 "Orphanet:416" MONDO:0013327 "UMLS:C3150878" MONDO:0013327 "OMIM:613616" MONDO:0013327 "Orphanet:93600" -MONDO:0013327 "ICD10:E74.8" MONDO:0013327 "GARD:0010738" MONDO:0013327 "NCIT:C123214" +MONDO:0013327 "ICD10CM:E74.8" +MONDO:0000927 "ICD10CM:A52.2" MONDO:0000927 "DOID:10035" MONDO:0000927 "SCTID:37754005" -MONDO:0000927 "ICD10:A52.2" MONDO:0000927 "ICD9:094.3" MONDO:0000927 "UMLS:C0153167" MONDO:0014885 "OMIM:617050" @@ -78543,41 +76592,41 @@ MONDO:0017075 "Orphanet:268770" MONDO:0008260 "OMIM:173650" MONDO:0008260 "DOID:0060472" MONDO:0008260 "Orphanet:2908" +MONDO:0008260 "ICD10CM:Q81.8" MONDO:0008260 "MESH:C536321" MONDO:0008260 "SCTID:238836000" -MONDO:0008260 "ICD10:Q81.8" MONDO:0008260 "GARD:0004391" MONDO:0009189 "Orphanet:93307" MONDO:0009189 "OMIM:226900" MONDO:0009189 "GARD:0009793" MONDO:0009189 "SCTID:715672007" MONDO:0009189 "DOID:0070300" +MONDO:0009189 "ICD10CM:Q77.3" MONDO:0009189 "MESH:C535504" MONDO:0009189 "UMLS:C1847593" -MONDO:0009189 "ICD10:Q77.3" -MONDO:0060627 "UMLS:C4540520" MONDO:0060627 "OMIM:617810" +MONDO:0060627 "UMLS:C4540520" MONDO:0060627 "Orphanet:529665" +MONDO:0020351 "ICD10CM:Q03.1" MONDO:0020351 "Orphanet:98922" -MONDO:0020351 "ICD10:Q03.1" MONDO:0007321 "OMIM:602497" MONDO:0007321 "MESH:C563248" MONDO:0007321 "OMIM:118651" MONDO:0007321 "GARD:0001298" MONDO:0007321 "DOID:0060293" +MONDO:0007321 "ICD10CM:Q77.3" MONDO:0007321 "Orphanet:79344" -MONDO:0007321 "ICD10:Q77.3" MONDO:0007321 "OMIM:118650" MONDO:0010462 "UMLS:C3275471" MONDO:0010462 "OMIM:300861" MONDO:0010462 "DOID:0060819" MONDO:0012315 "UMLS:C2674937" +MONDO:0012315 "ICD10CM:Q93.5" MONDO:0012315 "OMIM:609625" MONDO:0012315 "UMLS:C4305277" MONDO:0012315 "DOID:0060390" MONDO:0012315 "SCTID:718687003" MONDO:0012315 "GARD:0003711" -MONDO:0012315 "ICD10:Q93.5" MONDO:0012315 "MESH:C567182" MONDO:0012315 "Orphanet:96148" HP:0011138 "UMLS:C4023518" @@ -78600,27 +76649,27 @@ MONDO:0010098 "OMIM:272700" MONDO:0010098 "GARD:0005119" MONDO:0010098 "MESH:C536946" MONDO:0010098 "Orphanet:3289" +MONDO:0010098 "ICD10CM:K00.2" MONDO:0010098 "HP:0000679" MONDO:0010098 "UMLS:C0266039" -MONDO:0010098 "ICD10:K00.2" MONDO:0011044 "OMIM:601348" MONDO:0011044 "UMLS:C1832441" MONDO:0011044 "MESH:C563344" MONDO:0005292 "ICD9:558.9" +MONDO:0005292 "ICD10CM:K50-K52" MONDO:0005292 "EFO:0003872" MONDO:0005292 "MESH:D003092" MONDO:0005292 "NCIT:C26723" MONDO:0005292 "SCTID:64226004" -MONDO:0005292 "ICD10:K52.9" MONDO:0005292 "DOID:0060180" MONDO:0005292 "OMIM:191390" MONDO:0005292 "HP:0002583" MONDO:0005292 "UMLS:C0009319" +MONDO:0017487 "ICD10CM:Q71.4" MONDO:0017487 "Orphanet:295071" -MONDO:0017487 "ICD10:Q71.4" +MONDO:0017316 "ICD10CM:Q87.1" MONDO:0017316 "SCTID:716192009" MONDO:0017316 "Orphanet:2866" -MONDO:0017316 "ICD10:Q87.1" MONDO:0017316 "GARD:0004841" MONDO:0044098 "SCTID:9899009" MONDO:0044098 "NCIT:C92945" @@ -78631,15 +76680,15 @@ MONDO:0013047 "HGNC:6535" MONDO:0013047 "MESH:C538133" MONDO:0013047 "OMIM:612933" MONDO:0013047 "Orphanet:284426" -MONDO:0013047 "ICD10:E74.0" MONDO:0013047 "Orphanet:2364" MONDO:0013047 "GARD:0003160" +MONDO:0013047 "ICD10CM:E74.0" CL:0002081 "FMA:84187" NCBITaxon:66360 "GC_ID:1" MONDO:0013223 "Orphanet:401979" +MONDO:0013223 "ICD10CM:Q77.8" MONDO:0013223 "UMLS:C2750075" MONDO:0013223 "MESH:C567644" -MONDO:0013223 "ICD10:Q77.8" MONDO:0013223 "OMIM:613320" NCBITaxon:11709 "GC_ID:1" MONDO:0014360 "DOID:0080443" @@ -78649,22 +76698,21 @@ HP:0009121 "UMLS:C4020785" HP:0009121 "UMLS:C4024586" MONDO:0018711 "Orphanet:457365" MONDO:0018711 "UMLS:CN242088" -MONDO:0012485 "ICD10:H90.3" MONDO:0012485 "DOID:0110519" MONDO:0012485 "MESH:C563669" MONDO:0012485 "OMIM:610419" MONDO:0012485 "Orphanet:90636" MONDO:0012485 "UMLS:C1835854" -MONDO:0019954 "ICD10:E16.8" MONDO:0019954 "NCIT:C27720" MONDO:0019954 "EFO:1000045" +MONDO:0019954 "ICD10CM:E16.8" MONDO:0019954 "DOID:1799" MONDO:0019954 "Orphanet:97253" MONDO:0019954 "ICDO:8150/1" MONDO:0019954 "GARD:0013034" MONDO:0019954 "ONCOTREE:PANET" MONDO:0018757 "Orphanet:466695" -MONDO:0018757 "ICD10:J34.8" +MONDO:0018757 "ICD10CM:J34.8" MONDO:0042973 "GARD:0004174" HP:0005132 "UMLS:C0240709" MONDO:0011265 "OMIM:602639" @@ -78674,17 +76722,16 @@ MONDO:0014488 "UMLS:C4015183" MONDO:0014488 "OMIM:616087" MONDO:0008551 "SCTID:723556008" MONDO:0008551 "Orphanet:3317" -MONDO:0008551 "ICD10:Q77.2" MONDO:0008551 "GARD:0005184" MONDO:0008551 "MESH:C536517" MONDO:0008551 "UMLS:C1861197" MONDO:0008551 "OMIM:187760" +MONDO:0008551 "ICD10CM:Q77.2" MONDO:0008551 "OMIM:187770" MONDO:0018069 "Orphanet:3379" -MONDO:0018069 "ICD10:Q92.3" MONDO:0018069 "SCTID:766051001" -MONDO:0014664 "UMLS:C4084822" MONDO:0014664 "DOID:0110992" +MONDO:0014664 "UMLS:C4084822" MONDO:0014664 "OMIM:616490" MONDO:0014664 "Orphanet:475" MONDO:0015542 "UMLS:CN199700" @@ -78706,8 +76753,8 @@ MONDO:0004109 "SCTID:126699008" MONDO:0000212 "OMIMPS:143880" MONDO:0000212 "SCTID:276645004" MONDO:0000212 "SCTID:34225008" +MONDO:0000212 "ICD10CM:E83.5" MONDO:0000212 "OMIM:143880" -MONDO:0000212 "ICD10:E83.5" MONDO:0000212 "NCIT:C129734" MONDO:0000212 "MESH:C562999" MONDO:0000212 "OMIM:616963" @@ -78724,10 +76771,9 @@ MONDO:0009296 "UMLS:C0268220" MONDO:0009296 "SCTID:7810004" MONDO:0009296 "UMLS:C1856275" MONDO:0009296 "MESH:C565538" -MONDO:0002412 "ICD10:E74.0" -MONDO:0002412 "ICD10:E74.00" MONDO:0002412 "UMLS:C0017919" MONDO:0002412 "MESH:D006008" +MONDO:0002412 "ICD10CM:E74.0" MONDO:0002412 "MedDRA:10061990" MONDO:0002412 "NCIT:C61272" MONDO:0002412 "ICD9:271.0" @@ -78744,20 +76790,20 @@ MONDO:0011148 "OMIM:601809" MONDO:0018256 "SCTID:725390002" MONDO:0018256 "Orphanet:370026" MONDO:0018256 "UMLS:C4511003" +MONDO:0018256 "ICD10CM:C92.0" MONDO:0018256 "UMLS:CN204831" -MONDO:0018256 "ICD10:C92.0" MONDO:0016944 "Orphanet:262749" MONDO:0016944 "GARD:0005355" MONDO:0016944 "MESH:C537819" MONDO:0016944 "UMLS:C0795820" MONDO:0009133 "GARD:0001998" +MONDO:0009133 "ICD10CM:G11.8" MONDO:0009133 "MESH:C535731" MONDO:0009133 "OMIM:615268" MONDO:0009133 "DOID:0050997" MONDO:0009133 "OMIM:613227" MONDO:0009133 "Orphanet:1766" MONDO:0009133 "OMIM:224050" -MONDO:0009133 "ICD10:G11.8" MONDO:0009133 "NCIT:C114781" MONDO:0009133 "MedDRA:10013140" MONDO:0009133 "OMIM:610185" @@ -78766,14 +76812,13 @@ MONDO:0009133 "OMIMPS:224050" MONDO:0013719 "Orphanet:1515" MONDO:0013719 "UMLS:C3280616" MONDO:0013719 "OMIM:614378" -MONDO:0001653 "ICD10:C60.0" MONDO:0001653 "ICD9:187.1" MONDO:0001653 "DOID:13168" MONDO:0001653 "SCTID:363450006" MONDO:0001653 "UMLS:C0153598" -MONDO:0007556 "ICD10:Q81.0" MONDO:0007556 "DOID:0111346" MONDO:0007556 "ICD9:757.39" +MONDO:0007556 "ICD10CM:Q81.0" MONDO:0007556 "GARD:0009737" MONDO:0007556 "SCTID:254180002" MONDO:0007556 "MESH:C535959" @@ -78799,59 +76844,59 @@ MONDO:0000383 "DOID:0050622" MONDO:0019674 "Orphanet:93335" MONDO:0019674 "SCTID:715707008" MONDO:0019674 "UMLS:C1868120" -MONDO:0019674 "ICD10:Q69.0" +MONDO:0019674 "ICD10CM:Q69.0" MONDO:0019674 "OMIM:174200" MONDO:0054776 "UMLS:CN244552" MONDO:0054776 "OMIM:617935" MONDO:0008121 "UMLS:C1833997" MONDO:0008121 "MESH:C563506" MONDO:0008121 "OMIM:164680" -MONDO:0024229 "ICD10CM:L74.1" MONDO:0024229 "DOID:0070321" MONDO:0003168 "SCTID:277507004" MONDO:0003168 "UMLS:C0349620" MONDO:0003168 "DOID:4853" MONDO:0003168 "NCIT:C6809" -MONDO:0010722 "ICD10:Q14.1" +MONDO:0010722 "ICD10CM:Q14.1" MONDO:0010722 "SCTID:715240000" MONDO:0010722 "GARD:0004680" MONDO:0010722 "UMLS:C4275241" MONDO:0010722 "OMIM:312550" MONDO:0010722 "Orphanet:1852" +MONDO:0005071 "UMLS:C0027765" +MONDO:0005071 "ICD9:349.89" +MONDO:0005071 "SCTID:118940003" +MONDO:0005071 "ICD10CM:G00-G09" +MONDO:0005071 "EFO:0000618" +MONDO:0005071 "Wikipedia:Nervous_system_disease" MONDO:0005071 "DOID:863" -MONDO:0005071 "ICD10:G00-G99" +MONDO:0005071 "NCIT:C2934" +MONDO:0005071 "ICD10CM:G89-G99" +MONDO:0005071 "ICD10CM:G00-G99" MONDO:0005071 "ICD9:349.9" -MONDO:0005071 "ICD10:G98" -MONDO:0005071 "EFO:0000618" -MONDO:0005071 "ICD10:G98.8" MONDO:0005071 "MESH:D009422" -MONDO:0005071 "ICD9:349.89" -MONDO:0005071 "UMLS:C0027765" -MONDO:0005071 "Wikipedia:Nervous_system_disease" MONDO:0005071 "NCIT:C26835" -MONDO:0005071 "ICD10:G00.G99" -MONDO:0005071 "SCTID:118940003" -MONDO:0005071 "NCIT:C2934" MONDO:0001856 "DOID:14006" MONDO:0001856 "SCTID:70405009" MONDO:0001856 "ICD9:442.83" MONDO:0001856 "UMLS:C0155747" +MONDO:0002081 "ICD10CM:Q65-Q79" +MONDO:0002081 "ICD10CM:M95-M95" +MONDO:0002081 "UMLS:C0026857" +MONDO:0002081 "NCIT:C107377" +MONDO:0002081 "SCTID:928000" +MONDO:0002081 "ICD9:729.99" +MONDO:0002081 "ICD10CM:M00-M99" +MONDO:0002081 "MESH:D009140" +MONDO:0002081 "DOID:17" MONDO:0018477 "SCTID:50143004" MONDO:0018477 "DOID:2382" MONDO:0018477 "MESH:D007647" MONDO:0018477 "MedDRA:10023376" -MONDO:0018477 "ICD10:P57" MONDO:0018477 "Orphanet:415286" MONDO:0018477 "GARD:0006830" -MONDO:0018477 "ICD10:P57.9" +MONDO:0018477 "ICD10CM:P57.9" MONDO:0018477 "EFO:1001002" MONDO:0018477 "NCIT:C84799" -MONDO:0002081 "UMLS:C0026857" -MONDO:0002081 "NCIT:C107377" -MONDO:0002081 "SCTID:928000" -MONDO:0002081 "ICD9:729.99" -MONDO:0002081 "DOID:17" -MONDO:0002081 "MESH:D009140" MONDO:0021528 "NCIT:C4620" MONDO:0021528 "SCTID:92206006" MONDO:0021528 "UMLS:C0347482" @@ -78860,7 +76905,6 @@ MONDO:0005598 "EFO:0006391" MONDO:0006544 "ICD9:057.0" MONDO:0006544 "MESH:D016731" MONDO:0006544 "UMLS:C0085273" -MONDO:0006544 "ICD10:B08.3" MONDO:0006544 "EFO:1000693" MONDO:0006544 "NCIT:C84695" MONDO:0006544 "DOID:8743" @@ -78874,16 +76918,15 @@ MONDO:0006811 "SCTID:433691000124104" MONDO:0006811 "ICD9:349.89" HP:0004307 "UMLS:C4025359" MONDO:0020507 "UMLS:C1858991" -MONDO:0020507 "ICD10:E75.2" +MONDO:0020507 "ICD10CM:E75.2" MONDO:0020507 "Orphanet:99854" MONDO:0020507 "OMIM:603896" HP:0000286 "UMLS:C0678230" MONDO:0013193 "OMIM:613239" MONDO:0013193 "Orphanet:79102" -MONDO:0010828 "OMIM:600138" MONDO:0010828 "GARD:0010383" +MONDO:0010828 "OMIM:600138" MONDO:0010828 "DOID:0110408" -MONDO:0010828 "ICD10:H35.5" MONDO:0010828 "UMLS:C1838601" MONDO:0010828 "MESH:C563991" MONDO:0020841 "OMIM:618056" @@ -78891,14 +76934,13 @@ MONDO:0020841 "UMLS:CN252657" MONDO:0015137 "UMLS:C0015974" MONDO:0015137 "UMLS:C3889979" MONDO:0015137 "NCIT:C118240" -MONDO:0015137 "ICD10:E85.0" +MONDO:0015137 "ICD10CM:E85.0" MONDO:0015137 "MedDRA:10034533" MONDO:0015137 "Orphanet:101995" MONDO:0005142 "EFO:0001077" MONDO:0004853 "UMLS:C0153213" MONDO:0004853 "ICD9:098.42" MONDO:0004853 "DOID:9698" -MONDO:0004853 "ICD10:A54.39" MONDO:0004853 "SCTID:111807001" MONDO:0030318 "OMIM:619405" MONDO:0006427 "SCTID:403923002" @@ -78915,21 +76957,24 @@ MONDO:0014595 "OMIM:616341" MONDO:0014595 "DOID:0080465" MONDO:0014595 "Orphanet:1935" MONDO:0014595 "UMLS:C4225360" +MONDO:8000024 "OMIM:615559" +MONDO:8000024 "DOID:0110119" +MONDO:8000024 "UMLS:C3809928" MONDO:0032579 "OMIM:618175" MONDO:0012181 "MESH:C563807" MONDO:0012181 "Orphanet:101007" MONDO:0012181 "UMLS:C1836899" MONDO:0012181 "OMIM:609041" -MONDO:0012181 "ICD10:G11.4" +MONDO:0012181 "ICD10CM:G11.4" MONDO:0012181 "DOID:0110778" MONDO:0032755 "OMIM:618443" MONDO:0021925 "NCIT:C122784" MONDO:0021925 "UMLS:C0040586" MONDO:0021925 "SCTID:13617004" +MONDO:0016532 "ICD10CM:G40.4" MONDO:0016532 "GARD:0009912" MONDO:0016532 "OMIM:606369" MONDO:0016532 "DOID:0050561" -MONDO:0016532 "ICD10:G40.4" MONDO:0016532 "MESH:D065768" MONDO:0016532 "OMIM:616346" MONDO:0016532 "UMLS:C0238111" @@ -78948,7 +76993,6 @@ MONDO:0054836 "UMLS:CN248785" MONDO:0014432 "UMLS:C2936863" MONDO:0014432 "DOID:0110124" MONDO:0014432 "OMIM:209900" -MONDO:0014432 "ICD10:Q87.89" MONDO:0014432 "OMIM:615981" MONDO:0014432 "Orphanet:110" MONDO:0014432 "MESH:C537910" @@ -78956,67 +77000,67 @@ MONDO:0014432 "GARD:0000821" MONDO:0016578 "Orphanet:2443" MONDO:0016578 "UMLS:CN201731" MONDO:0008974 "GARD:0008754" -MONDO:0008974 "ICD10:Q77.3" MONDO:0008974 "DOID:0111588" MONDO:0008974 "SCTID:389261002" MONDO:0008974 "UMLS:CN199524" MONDO:0008974 "Orphanet:1426" +MONDO:0008974 "ICD10CM:Q77.3" MONDO:0008974 "OMIM:215140" MONDO:0008974 "UMLS:C2931048" MONDO:0008974 "MESH:C535858" MONDO:0009920 "Orphanet:2980" MONDO:0009920 "UMLS:C1849661" +MONDO:0009920 "ICD10CM:Q87.0" MONDO:0009920 "OMIM:264475" -MONDO:0009920 "ICD10:Q87.0" MONDO:0009920 "SCTID:720410001" MONDO:0009920 "MESH:C564866" MONDO:0045046 "ICD9:246.8" MONDO:0045046 "UMLS:C0271824" MONDO:0045046 "SCTID:36985004" +MONDO:0020438 "ICD10CM:Q21.1" MONDO:0020438 "UMLS:C0521533" MONDO:0020438 "Orphanet:99107" -MONDO:0020438 "ICD10:Q21.1" MONDO:0020438 "SCTID:95440004" MONDO:0017934 "Orphanet:324540" MONDO:0017934 "UMLS:CN204076" -MONDO:0017934 "ICD10:Q87.0" +MONDO:0017934 "ICD10CM:Q87.0" +MONDO:0015660 "ICD10CM:Q02" MONDO:0015660 "Orphanet:1665" MONDO:0015660 "UMLS:CN237425" MONDO:0015660 "SCTID:763717004" -MONDO:0015660 "ICD10:Q02" MONDO:0042975 "MEDGEN:418965" +MONDO:0042975 "OMIM:264150" MONDO:0042975 "GARD:0004542" MONDO:0042975 "UMLS:C2931030" MONDO:0042975 "MESH:C535820" -MONDO:0024583 "MESH:D006547" -MONDO:0024583 "NCIT:C34685" -MONDO:0024583 "ICD10:K40.K46" NCBITaxon:644 "PMID:932684" NCBITaxon:644 "GC_ID:11" NCBITaxon:644 "PMID:23485124" NCBITaxon:644 "PMID:19965992" NCBITaxon:644 "PMID:16560691" +MONDO:0024583 "MESH:D006547" +MONDO:0024583 "NCIT:C34685" +MONDO:0024583 "ICD10CM:K40-K46" MONDO:0024973 "MESH:D011016" -MONDO:0012650 "ICD10:D81.1" MONDO:0012650 "MESH:C566970" MONDO:0012650 "UMLS:C1969799" MONDO:0012650 "SCTID:720853005" MONDO:0012650 "Orphanet:169079" +MONDO:0012650 "ICD10CM:D81.1" MONDO:0012650 "OMIM:611291" HP:0004394 "UMLS:C0236048" HP:0004394 "SNOMEDCT_US:78809005" HP:0004394 "MSH:C562464" HP:0004394 "SNOMEDCT_US:87252009" MONDO:0016077 "MESH:C537782" -MONDO:0016077 "ICD10:Q21.4" MONDO:0016077 "GARD:0000738" MONDO:0016077 "UMLS:C2931610" MONDO:0016077 "Orphanet:2037" -MONDO:0009803 "ICD10:Q78.0" MONDO:0009803 "OMIM:259410" MONDO:0009803 "MESH:C537558" MONDO:0009803 "Orphanet:2772" MONDO:0009803 "UMLS:C1850184" +MONDO:0009803 "ICD10CM:Q78.0" CL:0002543 "KUPO:0001099" CL:0002543 "FMA:62104" MONDO:0018106 "OMIM:278300" @@ -79031,14 +77075,12 @@ MONDO:0018106 "ICD9:277.2" MONDO:0018106 "HP:0010934" MONDO:0018106 "MESH:C562584" MONDO:0018106 "SCTID:54627004" -MONDO:0018106 "ICD10:E79.8" +MONDO:0018106 "ICD10CM:E79.8" MONDO:0017817 "Orphanet:314709" -MONDO:0017817 "ICD10:E85.4" MONDO:0001373 "UMLS:C0153612" MONDO:0001373 "DOID:11811" MONDO:0001373 "SCTID:188243001" MONDO:0001373 "ICD9:188.4" -MONDO:0001373 "ICD10:C67.4" MONDO:0023571 "GARD:0003140" MONDO:0023571 "MESH:C537509" MONDO:0023571 "UMLS:C2931513" @@ -79047,6 +77089,7 @@ MONDO:0021633 "NCIT:C4951" MONDO:0021633 "SCTID:99131000119108" MONDO:0043579 "SCTID:64613007" MONDO:0043579 "NCIT:C26765" +MONDO:0043579 "ICD10CM:K50-K52" MONDO:0043579 "UMLS:C0014335" MONDO:0043579 "MESH:D004751" MONDO:0003816 "ICD9:718.02" @@ -79063,12 +77106,11 @@ MONDO:0012871 "Orphanet:90647" MONDO:0012871 "MESH:C567343" MONDO:0012871 "Orphanet:768" MONDO:0012871 "GARD:0010364" +MONDO:0018421 "ICD10CM:G11.4" MONDO:0018421 "Orphanet:401830" -MONDO:0018421 "ICD10:G11.4" MONDO:0018421 "UMLS:CN226128" NCBITaxon:151341 "GC_ID:1" MONDO:0001256 "CSP:0571-2717" -MONDO:0001256 "ICD10:I77.0" MONDO:0001256 "UMLS:C0334533" MONDO:0001256 "SCTID:233982006" MONDO:0001256 "ICDO:9123/0" @@ -79082,24 +77124,20 @@ MONDO:0007159 "Orphanet:1144" MONDO:0007159 "GARD:0000784" MONDO:0007159 "OMIM:108200" MONDO:0007159 "MESH:C535386" -MONDO:0007159 "ICD10:Q68.8" +MONDO:0007159 "ICD10CM:Q68.8" NCBITaxon:33356 "GC_ID:1" MONDO:0019524 "OMIM:613090" -MONDO:0019524 "ICD10:E26.8" MONDO:0019524 "Orphanet:89938" MONDO:0019524 "GARD:0010508" MONDO:0019524 "UMLS:C3838860" MONDO:0019524 "SCTID:700112007" +MONDO:0019524 "ICD10CM:E26.8" MONDO:0019524 "UMLS:CN206343" MONDO:0019524 "OMIM:602522" -MONDO:0004632 "ICD10:C81.9" -MONDO:0004632 "ICD10:C81.0" MONDO:0004632 "MESH:D006689" MONDO:0004632 "ICDO:9661/3" -MONDO:0004632 "ICD10:C81.3" MONDO:0004632 "NCIT:C6913" MONDO:0004632 "DOID:8651" -MONDO:0004632 "ICD10:C81.2" MONDO:0004632 "NCIT:C3517" MONDO:0004632 "NCIT:C26956" MONDO:0004632 "ICD9:201.0" @@ -79109,20 +77147,18 @@ MONDO:0004632 "SCTID:118610003" MONDO:0004632 "NCIT:C6914" MONDO:0004632 "ICD9:201.7" MONDO:0004632 "ICD9:201.2" -MONDO:0004632 "ICD10:C81" MONDO:0004632 "SCTID:118609008" MONDO:0004632 "NCIT:C9357" -MONDO:0004632 "ICD9:201.4" MONDO:0004632 "ICD9:201.1" +MONDO:0004632 "ICD9:201.4" MONDO:0004632 "ICD9:201.9" -MONDO:0004632 "ICD10:C81.4" MONDO:0004632 "SCTID:118602004" MONDO:0004632 "ICD9:201.6" MONDO:0018327 "ICD9:239.7" MONDO:0018327 "ICDO:8711/0" MONDO:0018327 "MESH:D005918" MONDO:0018327 "Orphanet:391651" -MONDO:0018327 "ICD10:D18.0" +MONDO:0018327 "ICD10CM:D18.0" MONDO:0018327 "DOID:2431" MONDO:0018327 "UMLS:C0017653" MONDO:0018327 "NCIT:C3060" @@ -79130,8 +77166,7 @@ MONDO:0018327 "SCTID:403969002" MONDO:0007417 "DOID:2734" MONDO:0007417 "NCIT:C84665" MONDO:0007417 "SCTID:48611009" -MONDO:0007417 "ICD10:Q82.8" -MONDO:0007417 "ICD10:E50.8" +MONDO:0007417 "ICD10CM:Q82.8" MONDO:0007417 "ICD9:757.39" MONDO:0007417 "MedDRA:10023369" MONDO:0007417 "OMIM:124200" @@ -79146,34 +77181,32 @@ MONDO:0001858 "NCIT:C168333" MONDO:0001858 "DOID:14021" MONDO:0001858 "MESH:D013991" MONDO:0001858 "GARD:0010100" -MONDO:0001858 "ICD10:M94.0" MONDO:0001858 "SCTID:30128009" MONDO:0017526 "Orphanet:295150" -MONDO:0017526 "ICD10:Q69.1" +MONDO:0017526 "ICD10CM:Q69.1" MONDO:0017526 "UMLS:CN203257" NCBITaxon:12086 "GC_ID:1" MONDO:0019453 "Orphanet:86836" +MONDO:0019453 "ICD10CM:D46.A" MONDO:0019453 "ICDO:9985/3" -MONDO:0019453 "ICD10:D46.7" -MONDO:0019453 "ICD10:D46.A" MONDO:0019453 "MedDRA:10067959" MONDO:0019453 "UMLS:C0796466" MONDO:0019453 "SCTID:415285009" MONDO:0019453 "ICD9:238.72" MONDO:0019453 "NCIT:C8574" +MONDO:0015389 "ICD10CM:Q30.8" MONDO:0015389 "UMLS:CN226671" MONDO:0015389 "SCTID:719163006" MONDO:0015389 "Orphanet:141096" -MONDO:0015389 "ICD10:Q30.8" MONDO:0015389 "HP:0009934" MONDO:0016463 "NCIT:C26931" MONDO:0016463 "UMLS:CN226939" MONDO:0016463 "Orphanet:229720" MONDO:0009797 "DOID:0050833" MONDO:0009797 "MedDRA:10052621" +MONDO:0009797 "ICD10CM:E79.8" MONDO:0009797 "OMIM:258900" MONDO:0009797 "Orphanet:30" -MONDO:0009797 "ICD10:E79.8" MONDO:0009797 "SCTID:47641009" MONDO:0009797 "GARD:0005429" MONDO:0009797 "NCIT:C98944" @@ -79184,7 +77217,6 @@ MONDO:0044724 "Orphanet:505216" MONDO:0012370 "OMIM:609941" MONDO:0012370 "GARD:0009918" MONDO:0012370 "MESH:C538202" -MONDO:0012370 "ICD10:H90.3" MONDO:0012370 "DOID:0110508" MONDO:0005377 "UMLS:C0027726" MONDO:0005377 "OMIM:256370" @@ -79192,7 +77224,6 @@ MONDO:0005377 "OMIM:614196" MONDO:0005377 "OMIM:600995" MONDO:0005377 "OMIM:615573" MONDO:0005377 "OMIM:610725" -MONDO:0005377 "ICD10:N04" MONDO:0005377 "ICD9:581.9" MONDO:0005377 "EFO:0004255" MONDO:0005377 "ICD9:581" @@ -79208,7 +77239,7 @@ MONDO:0005377 "OMIM:615244" MONDO:0054615 "OMIM:617576" MONDO:0054615 "DOID:0070165" MONDO:0008577 "OMIM:189100" -MONDO:0018642 "ICD10:D81.8" +MONDO:0018642 "ICD10CM:D81.8" MONDO:0018642 "Orphanet:447731" MONDO:0009523 "OMIM:246550" MONDO:0009523 "MESH:C535894" @@ -79223,11 +77254,10 @@ MONDO:0008753 "DOID:9270" MONDO:0008753 "GARD:0005775" MONDO:0008753 "SCTID:360378009" MONDO:0008753 "NCIT:C84546" +MONDO:0008753 "ICD10CM:E70.2" MONDO:0008753 "ICD9:270.2" -MONDO:0008753 "ICD10:E70.29" MONDO:0008753 "MESH:D000474" MONDO:0008753 "Orphanet:56" -MONDO:0008753 "ICD10:E70.2" MONDO:0008753 "MedDRA:10001689" MONDO:0020843 "UMLS:C0012554" MONDO:0020843 "SCTID:7773002" @@ -79239,26 +77269,26 @@ MONDO:0010607 "GARD:0008591" MONDO:0010607 "Orphanet:450" MONDO:0010607 "EFO:0009136" MONDO:0010607 "UMLS:C1844020" -MONDO:0016767 "ICD10:L43.3" +MONDO:0016767 "ICD10CM:L43.2" +MONDO:0016767 "ICD10CM:L43.1" MONDO:0016767 "UMLS:CN226995" -MONDO:0016767 "ICD10:L43.9" -MONDO:0016767 "ICD10:L66.1" +MONDO:0016767 "ICD10CM:L43.0" +MONDO:0016767 "ICD10CM:L43.3" +MONDO:0016767 "ICD10CM:L43.8" MONDO:0016767 "Orphanet:254370" -MONDO:0016767 "ICD10:L43.8" -MONDO:0016767 "ICD10:L43.0" -MONDO:0016767 "ICD10:L43.2" -MONDO:0016767 "ICD10:L43.1" +MONDO:0016767 "ICD10CM:L43.9" +MONDO:0016767 "ICD10CM:L66.1" +MONDO:0018967 "ICD10CM:E23.0" MONDO:0018967 "OMIM:307200" -MONDO:0018967 "ICD10:E23.0" MONDO:0018967 "Orphanet:632" MONDO:0017713 "UMLS:CN227183" -MONDO:0017713 "ICD10:E71.3" +MONDO:0017713 "ICD10CM:E71.3" MONDO:0017713 "Orphanet:309115" MONDO:0016650 "SCTID:766719006" -MONDO:0016650 "ICD10:Q99.8" +MONDO:0016650 "ICD10CM:Q99.8" MONDO:0016650 "Orphanet:251004" MONDO:0018850 "GARD:0004509" -MONDO:0018850 "ICD10:L72.1" +MONDO:0018850 "ICD10CM:L72.1" MONDO:0018850 "ICDO:8103/0" MONDO:0018850 "ICDO:8103/1" MONDO:0018850 "UMLS:C0345992" @@ -79284,19 +77314,19 @@ MONDO:0000936 "DOID:10073" MONDO:0000936 "GARD:0008731" NCBITaxon:28344 "GC_ID:1" MONDO:0015755 "SCTID:764994007" +MONDO:0015755 "ICD10CM:G71.2" MONDO:0015755 "Orphanet:171889" -MONDO:0015755 "ICD10:G71.2" MONDO:0024617 "SCTID:189099001" MONDO:0024617 "NCIT:C27302" MONDO:0004202 "UMLS:C1334717" MONDO:0004202 "DOID:7379" MONDO:0004202 "NCIT:C9276" NCBITaxon:693996 "GC_ID:1" +NCBITaxon:41665 "GC_ID:1" MONDO:0003005 "UMLS:C0271051" MONDO:0003005 "NCIT:C35468" MONDO:0003005 "DOID:4449" MONDO:0003005 "SCTID:37231002" -NCBITaxon:41665 "GC_ID:1" MONDO:0001679 "ICD9:377.22" MONDO:0001679 "DOID:13295" MONDO:0002625 "SCTID:307608006" @@ -79319,15 +77349,14 @@ HP:0002153 "MSH:D006947" HP:0002153 "SNOMEDCT_US:14140009" HP:0002153 "SNOMEDCT_US:166689004" HP:0002153 "SNOMEDCT_US:238142003" -MONDO:0015638 "ICD10:G40.2" +MONDO:0015638 "ICD10CM:G40.2" MONDO:0015638 "Orphanet:166299" MONDO:0015638 "UMLS:CN226717" MONDO:0009693 "DOID:9538" +MONDO:0009693 "ICD10CM:C90.0" MONDO:0009693 "ICD9:203.0" MONDO:0009693 "UMLS:C0026764" -MONDO:0009693 "ICD10:C90.0" MONDO:0009693 "Orphanet:85443" -MONDO:0009693 "ICD10:C90.00" MONDO:0009693 "Orphanet:29073" MONDO:0009693 "ICDO:9732/3" MONDO:0009693 "MedDRA:10028228" @@ -79338,16 +77367,15 @@ MONDO:0009693 "MESH:D009101" MONDO:0009693 "EFO:0001378" MONDO:0009693 "OMIM:254500" MONDO:0009693 "ONCOTREE:PCM" -MONDO:0009346 "OMIM:235830" +MONDO:0009346 "ICD10CM:E70.8" MONDO:0009346 "Orphanet:2158" MONDO:0009346 "GARD:0002708" -MONDO:0009346 "ICD10:E70.8" MONDO:0009346 "UMLS:C0268642" MONDO:0009346 "MESH:C538321" +MONDO:0009346 "OMIM:235830" HP:0000278 "MSH:D063173" HP:0000278 "UMLS:C3494422" MONDO:0020688 "MESH:D020760" -MONDO:0001223 "ICD10:E21.5" MONDO:0001223 "ICD9:252.9" MONDO:0001223 "UMLS:C0030517" MONDO:0001223 "EFO:0005754" @@ -79358,7 +77386,6 @@ MONDO:0001223 "DOID:11201" MONDO:0001223 "ICD9:252.8" MONDO:0001223 "ICD9:252" MONDO:0011873 "Orphanet:646" -MONDO:0011873 "ICD10:E75.2" MONDO:0011873 "UMLS:C1843366" MONDO:0011873 "DOID:0070114" MONDO:0011873 "MESH:C536119" @@ -79371,7 +77398,6 @@ MONDO:0006837 "MESH:D057066" MONDO:0006837 "EFO:1001022" MONDO:0006837 "UMLS:C0152136" MONDO:0006837 "MedDRA:10024931" -MONDO:0006837 "ICD10:H40.12" MONDO:0006837 "ICD9:365.12" NCBITaxon:5478 "PMID:14654427" NCBITaxon:5478 "GC_ID:1" @@ -79381,14 +77407,14 @@ MONDO:0021221 "UMLS:C0346330" MONDO:0017819 "OMIM:125400" MONDO:0017819 "Orphanet:314721" MONDO:0017819 "UMLS:CN203789" -MONDO:0017819 "ICD10:K00.5" -MONDO:0014165 "ICD10:Q87.8" +MONDO:0017819 "ICD10CM:K00.5" +MONDO:0014165 "ICD10CM:Q87.8" MONDO:0014165 "UMLS:C3809356" MONDO:0014165 "Orphanet:369837" MONDO:0014165 "OMIM:615398" MONDO:0014165 "DOID:0080140" MONDO:0018180 "Orphanet:36235" -MONDO:0018180 "ICD10:A38" +MONDO:0018180 "ICD10CM:A38" MONDO:0018180 "UMLS:CN204670" MONDO:0030912 "Orphanet:502434" MONDO:0030912 "UMLS:CN429988" @@ -79402,14 +77428,13 @@ MONDO:0016242 "DOID:2859" MONDO:0016242 "MESH:D006445" MONDO:0016242 "UMLS:C0019021" MONDO:0016242 "NCIT:C34675" +MONDO:0016242 "ICD10CM:D58.2" MONDO:0016242 "ICD9:282.7" MONDO:0016242 "SCTID:51053007" -MONDO:0016242 "ICD10:D58.2" MONDO:0016242 "MESH:C531699" MONDO:0016242 "Orphanet:2132" MONDO:0016242 "GARD:0002640" MONDO:0019759 "UMLS:CN227686" -MONDO:0019759 "ICD10:Q64.0" MONDO:0019759 "SCTID:406476007" MONDO:0019759 "Orphanet:93928" MONDO:0019759 "HP:0000039" @@ -79419,7 +77444,7 @@ MONDO:0019759 "NCIT:C98923" MONDO:0019759 "ICD9:752.62" MONDO:0019759 "UMLS:C0014588" MONDO:0008206 "UMLS:C1868576" -MONDO:0008206 "ICD10:G96.8" +MONDO:0008206 "ICD10CM:G96.8" MONDO:0008206 "OMIM:168885" MONDO:0008206 "GARD:0004176" MONDO:0008206 "Orphanet:1179" @@ -79449,7 +77474,7 @@ MONDO:0014048 "UMLS:C3554519" MONDO:0032759 "OMIM:618453" MONDO:0030043 "OMIM:618885" MONDO:0017683 "OMIM:277410" -MONDO:0017683 "ICD10:E72.1" +MONDO:0017683 "ICD10CM:E72.1" MONDO:0017683 "UMLS:CN203574" MONDO:0017683 "Orphanet:308380" MONDO:0014634 "OMIM:616425" @@ -79457,7 +77482,6 @@ MONDO:0014634 "UMLS:C4225331" MONDO:0014634 "DOID:0111775" MONDO:0014634 "Orphanet:251510" MONDO:0014634 "Orphanet:242" -MONDO:0010020 "ICD10:E88.1" MONDO:0010020 "Orphanet:528" MONDO:0010020 "DOID:0111136" MONDO:0010020 "GARD:0010212" @@ -79471,10 +77495,10 @@ HP:0010461 "UMLS:C4023819" CL:0002366 "BTO:0004519" MONDO:0013622 "Orphanet:98886" MONDO:0013622 "DOID:0111045" -MONDO:0013622 "ICD10:D69.8" MONDO:0013622 "Orphanet:73271" MONDO:0013622 "OMIM:614200" MONDO:0013622 "MESH:C566000" +MONDO:0013622 "ICD10CM:D69.8" MONDO:0005238 "EFO:0003084" MONDO:0005238 "UMLS:C0334471" MONDO:0005238 "SCTID:404070007" @@ -79496,7 +77520,7 @@ MONDO:0005995 "UMLS:C0040948" MONDO:0005995 "ICD9:127.6" MONDO:0005995 "EFO:0007523" MONDO:0005995 "DOID:1254" -MONDO:0005995 "ICD10:B81.2" +MONDO:0005995 "ICD10CM:B81.2" MONDO:0005995 "SCTID:33710003" MONDO:0014855 "DOID:0070072" MONDO:0014855 "UMLS:C4310774" @@ -79521,18 +77545,17 @@ MONDO:0016628 "UMLS:CN226979" MONDO:0016628 "Orphanet:248315" MONDO:0013728 "OMIM:614390" MONDO:0015605 "SCTID:763530000" +MONDO:0015605 "ICD10CM:Q93.5" MONDO:0015605 "MESH:C538025" MONDO:0015605 "Orphanet:1642" -MONDO:0015605 "ICD10:Q93.5" MONDO:0021509 "NCIT:C4607" MONDO:0021509 "SCTID:92238001" MONDO:0021509 "UMLS:C0347253" MONDO:0011305 "UMLS:C1864040" MONDO:0011305 "DOID:0060671" -MONDO:0011305 "Orphanet:221061" MONDO:0011305 "OMIM:603285" +MONDO:0011305 "Orphanet:221061" MONDO:0011305 "MESH:C566393" -MONDO:0011305 "ICD10:Q28.3" HP:0011043 "UMLS:C4023574" MONDO:0006616 "SCTID:410049000" MONDO:0006616 "MESH:D011040" @@ -79551,17 +77574,17 @@ MONDO:0015534 "DOID:4424" MONDO:0015534 "UMLS:C0043324" MONDO:0015534 "EFO:1000311" MONDO:0015534 "MESH:D014972" -MONDO:0015534 "ICD10:D76.3" +MONDO:0015534 "ICD10CM:D76.3" MONDO:0015534 "NCIT:C3451" MONDO:0015534 "Orphanet:158000" MONDO:0015534 "SCTID:400204000" +MONDO:0019276 "ICD10CM:Q81.2" MONDO:0019276 "SCTID:402781004" -MONDO:0019276 "ICD10:Q81.9" -MONDO:0019276 "ICD10:Q81.1" -MONDO:0019276 "ICD10:Q81.0" -MONDO:0019276 "ICD10:Q81.2" +MONDO:0019276 "ICD10CM:Q81.9" +MONDO:0019276 "ICD10CM:Q81.8" +MONDO:0019276 "ICD10CM:Q81.1" +MONDO:0019276 "ICD10CM:Q81.0" MONDO:0019276 "Orphanet:79361" -MONDO:0019276 "ICD10:Q81.8" MONDO:0019276 "ICD9:757.39" MONDO:0005878 "MESH:D015827" MONDO:0005878 "NCIT:C34862" @@ -79579,35 +77602,29 @@ MONDO:0005080 "SCTID:34742003" MONDO:0005080 "NCIT:C3119" MONDO:0005080 "EFO:0000666" MONDO:0005080 "GARD:0008229" -MONDO:0005080 "ICD10:K76.6" +MONDO:0005080 "ICD10CM:K76.6" MONDO:0005080 "ICD9:572.3" MONDO:0005080 "MESH:D006975" MONDO:0017232 "Orphanet:280384" MONDO:0001458 "DOID:12168" MONDO:0001458 "UMLS:C1288279" MONDO:0001458 "ICD9:354.2" -MONDO:0001458 "ICD10:G56.20" MONDO:0001458 "SCTID:367475009" -MONDO:0001458 "ICD10:G56.2" HP:0007370 "UMLS:C1861866" MONDO:0015920 "Orphanet:182076" MONDO:0015920 "UMLS:CN200518" MONDO:0013915 "DOID:0090073" -MONDO:0013915 "ICD10:E23.0" MONDO:0013915 "OMIM:614842" MONDO:0013915 "UMLS:C3541462" -MONDO:0004658 "NCIT:C3641" -MONDO:0004658 "ICD10:D05" -MONDO:0004658 "ICD9:233.0" MONDO:0004658 "SCTID:189336000" +MONDO:0004658 "ICD9:233.0" MONDO:0004658 "UMLS:C0154084" -MONDO:0004658 "ICD10:D05.9" +MONDO:0004658 "NCIT:C3641" MONDO:0004658 "DOID:8791" MONDO:0004834 "UMLS:C1304514" MONDO:0004834 "DOID:9601" MONDO:0004834 "SCTID:403990005" MONDO:0004834 "NCIT:C6483" -MONDO:0004918 "ICD10:H16.01" MONDO:0004918 "DOID:9910" MONDO:0004918 "SCTID:7426009" MONDO:0004918 "UMLS:C0155069" @@ -79617,42 +77634,41 @@ MONDO:0043523 "SCTID:3398004" MONDO:0016975 "EFO:1000582" MONDO:0016975 "Orphanet:263324" MONDO:0016975 "ICDO:8582/1" -MONDO:0016975 "ICD10:C37" +MONDO:0016975 "ICD10CM:D15.0" MONDO:0016975 "UMLS:C1266092" -MONDO:0016975 "ICD10:D15.0" MONDO:0016975 "DOID:3280" +MONDO:0016975 "ICD10CM:C37" MONDO:0016975 "NCIT:C6885" MONDO:0006482 "NCIT:C6176" MONDO:0006482 "DOID:6886" MONDO:0006482 "UMLS:C1336878" MONDO:0006482 "EFO:1000610" MONDO:0009999 "Orphanet:1507" -MONDO:0009999 "ICD10:Q87.1" MONDO:0009999 "MESH:C535863" MONDO:0009999 "Orphanet:97360" MONDO:0009999 "OMIM:268310" MONDO:0009999 "UMLS:C1849334" MONDO:0009999 "DOID:0060764" +MONDO:0009999 "ICD10CM:Q87.1" MONDO:0018673 "GARD:0013256" MONDO:0018673 "UMLS:C4545992" MONDO:0018673 "SCTID:762282007" -MONDO:0018673 "ICD10:G03.9" +MONDO:0018673 "ICD10CM:G03.9" MONDO:0018673 "Orphanet:449427" +MONDO:0000446 "DOID:0050767" MONDO:0014237 "OMIM:615540" MONDO:0014237 "DOID:0110524" -MONDO:0014237 "ICD10:H90.3" MONDO:0014237 "UMLS:C3147083" MONDO:0014237 "Orphanet:90636" -MONDO:0000446 "DOID:0050767" MONDO:0003669 "NCIT:C7328" MONDO:0003669 "ICD9:186.9" MONDO:0003669 "SCTID:443675005" MONDO:0003669 "SCTID:255107005" MONDO:0003669 "HP:0100617" MONDO:0003669 "Orphanet:842" +MONDO:0003669 "ICD10CM:C62.9" MONDO:0003669 "OMIM:273300" MONDO:0003669 "GARD:0004792" -MONDO:0003669 "ICD10:C62.9" MONDO:0003669 "MESH:D018239" MONDO:0003669 "DOID:5842" MONDO:0003669 "EFO:0003101" @@ -79662,16 +77678,15 @@ MONDO:0002899 "UMLS:C1511934" MONDO:0004188 "UMLS:C1334287" MONDO:0004188 "DOID:7328" MONDO:0004188 "NCIT:C6098" -MONDO:0010788 "ICD10:H47.2" MONDO:0010788 "OMIM:308905" MONDO:0010788 "UMLS:C0917796" MONDO:0010788 "DOID:705" MONDO:0010788 "MESH:D029242" MONDO:0010788 "OMIM:535000" MONDO:0010788 "SCTID:58610003" +MONDO:0010788 "ICD10CM:H47.2" MONDO:0010788 "Orphanet:104" MONDO:0010788 "NCIT:C84808" -MONDO:0010788 "ICD10:H47.22" MONDO:0010788 "GARD:0006870" MONDO:0006388 "EFO:1000497" MONDO:0006388 "NCIT:C5962" @@ -79686,8 +77701,8 @@ MONDO:0024388 "ICD9:040.89" MONDO:0024388 "EFO:1000874" MONDO:0015333 "UMLS:CN199363" MONDO:0015333 "Orphanet:139033" -MONDO:0012455 "ICD10:Q87.8" MONDO:0012455 "DOID:0060352" +MONDO:0012455 "ICD10CM:Q87.8" MONDO:0012455 "OMIMPS:610253" MONDO:0012455 "Orphanet:261494" MONDO:0012455 "GARD:0008672" @@ -79708,29 +77723,29 @@ MONDO:0009608 "OMIM:250900" MONDO:0009608 "MESH:C562682" MONDO:0009608 "UMLS:C0268622" MONDO:0009608 "SCTID:45812003" -MONDO:0007627 "ICD10:Q82.8" +MONDO:0007627 "ICD10CM:Q82.8" MONDO:0007627 "UMLS:CN776929" MONDO:0007627 "Orphanet:398166" MONDO:0007627 "OMIM:136500" MONDO:0007627 "Orphanet:79133" MONDO:0007627 "GARD:0008416" MONDO:0011933 "GARD:0009836" +MONDO:0011933 "ICD10CM:E77.8" MONDO:0011933 "Orphanet:79326" MONDO:0011933 "OMIM:607906" MONDO:0011933 "DOID:0080561" -MONDO:0011933 "ICD10:E77.8" MONDO:0000739 "ICD9:528.3" MONDO:0000739 "SCTID:300932000" MONDO:0000739 "NCIT:C128385" MONDO:0000739 "UMLS:C0042174" MONDO:0000739 "DOID:0060310" MONDO:0000739 "MedDRA:10051962" -MONDO:0000739 "ICD10:K12.2" MONDO:0008803 "Orphanet:83" +MONDO:0008803 "ICD10CM:Q87.0" MONDO:0008803 "SCTID:62964007" MONDO:0008803 "DOID:0050462" -MONDO:0008803 "ICD10:Q87.0" MONDO:0008803 "OMIM:201750" +MONDO:0008803 "OMIM:207410" MONDO:0008803 "GARD:0005826" MONDO:0011053 "UMLS:C1303073" MONDO:0011053 "Orphanet:3051" @@ -79752,7 +77767,6 @@ MONDO:0006890 "EFO:1001087" MONDO:0006890 "SCTID:128474007" MONDO:0017778 "OMIM:613943" MONDO:0017778 "OMIM:604777" -MONDO:0017778 "ICD10:Q80.2" MONDO:0017778 "OMIM:242300" MONDO:0017778 "MedDRA:10023686" MONDO:0017778 "Orphanet:313" @@ -79765,7 +77779,6 @@ MONDO:0017778 "OMIM:146750" MONDO:0017778 "OMIM:606545" MONDO:0006868 "MESH:D055496" MONDO:0006868 "SCTID:425671009" -MONDO:0006868 "ICD10:K59.2" MONDO:0006868 "ICD9:564.81" MONDO:0006868 "EFO:1001061" MONDO:0006868 "MedDRA:10048657" @@ -79773,18 +77786,18 @@ MONDO:0006868 "DOID:13419" MONDO:0006868 "UMLS:C0695242" MONDO:0011240 "OMIM:602501" MONDO:0011240 "SCTID:703370002" +MONDO:0011240 "ICD10CM:Q87.3" MONDO:0011240 "GARD:0006950" MONDO:0011240 "Orphanet:60040" -MONDO:0011240 "ICD10:Q87.3" MONDO:0011240 "ICD9:759.89" MONDO:0011240 "MESH:C536142" MONDO:0011240 "UMLS:C1865285" MONDO:0010684 "SCTID:719815005" MONDO:0010684 "GARD:0003892" MONDO:0010684 "UMLS:C2931230" -MONDO:0010684 "ICD10:G71.8" MONDO:0010684 "UMLS:C1839615" MONDO:0010684 "OMIM:310440" +MONDO:0010684 "ICD10CM:G71.8" MONDO:0010684 "MESH:C536522" MONDO:0010684 "DOID:0050760" MONDO:0010684 "Orphanet:25980" @@ -79800,7 +77813,7 @@ MONDO:0015607 "OMIM:415000" MONDO:0015607 "HGNC:11311" MONDO:0015607 "SCTID:717158001" MONDO:0015607 "MESH:C536297" -MONDO:0015607 "ICD10:Q98.6" +MONDO:0015607 "ICD10CM:Q98.6" MONDO:0015607 "Orphanet:1646" MONDO:0015607 "GARD:0004230" MONDO:0005750 "EFO:0007258" @@ -79814,8 +77827,8 @@ CL:0000187 "FBbt:00005074" CL:0000187 "FMA:67328" MONDO:0018382 "SCTID:26460006" MONDO:0018382 "Orphanet:399329" -MONDO:0018382 "ICD10:M93.9" MONDO:0018382 "EFO:1001317" +MONDO:0018382 "ICD10CM:M93.9" MONDO:0013507 "OMIM:613960" MONDO:0013507 "Orphanet:379" MONDO:0013507 "DOID:0070194" @@ -79825,7 +77838,6 @@ MONDO:0007472 "DOID:0060746" MONDO:0007472 "UMLS:C0730295" MONDO:0007472 "OMIM:126700" MONDO:0007472 "Orphanet:75376" -MONDO:0007472 "ICD10:H35.5" MONDO:0060778 "NCIT:C4377" NCBITaxon:190765 "PMID:15264635" NCBITaxon:190765 "GC_ID:1" @@ -79848,13 +77860,13 @@ MONDO:0023199 "GARD:0002395" MONDO:0019462 "ICDO:9689/3" MONDO:0019462 "ONCOTREE:SMZL" MONDO:0019462 "EFO:1000550" -MONDO:0019462 "ICD10:C83.0" MONDO:0019462 "NCIT:C4663" MONDO:0019462 "SCTID:763666008" MONDO:0019462 "Orphanet:86854" MONDO:0019462 "DOID:0050750" MONDO:0019462 "UMLS:C0349632" MONDO:0019462 "MedDRA:10062113" +MONDO:0019462 "ICD10CM:C83.0" MONDO:0011549 "Orphanet:55654" MONDO:0011549 "OMIM:605389" MONDO:0011549 "DOID:0110698" @@ -79863,8 +77875,8 @@ MONDO:0018265 "UMLS:CN227296" MONDO:0018265 "Orphanet:370106" FOODON:03305803 "SUBSET_SIREN:F5803" MONDO:0004132 "Orphanet:424019" +MONDO:0004132 "ICD10CM:C21.1" MONDO:0004132 "UMLS:C1332262" -MONDO:0004132 "ICD10:C21.1" MONDO:0004132 "NCIT:C7469" MONDO:0004132 "DOID:7177" MONDO:0008419 "OMIM:181800" @@ -79874,7 +77886,6 @@ MONDO:0043349 "GARD:0010733" MONDO:0043349 "UMLS:C0343083" MONDO:0013445 "UMLS:C3151189" MONDO:0013445 "OMIM:613825" -MONDO:0013445 "ICD10:D84.1" MONDO:0013445 "Orphanet:169150" MONDO:0013445 "DOID:0060303" MONDO:0013445 "MESH:C565165" @@ -79888,18 +77899,18 @@ MONDO:0044684 "SCTID:58437007" MONDO:0044684 "Orphanet:499004" NCBITaxon:1652081 "GC_ID:1" MONDO:0015053 "OMIM:106100" +MONDO:0015053 "ICD10CM:D84.1" MONDO:0015053 "ICD9:279.8" -MONDO:0015053 "ICD10:D84.1" MONDO:0015053 "SCTID:234619000" MONDO:0015053 "Orphanet:100050" MONDO:0011736 "OMIM:606851" MONDO:0011736 "MESH:C564654" MONDO:0011736 "UMLS:C1847361" MONDO:0017896 "UMLS:CN227216" +MONDO:0017896 "ICD10CM:C73" MONDO:0017896 "OMIMPS:188550" MONDO:0017896 "Orphanet:319494" MONDO:0017896 "UMLS:C3501843" -MONDO:0017896 "ICD10:C73" MONDO:0054785 "DOID:0070332" MONDO:0054785 "OMIM:617954" MONDO:0054785 "UMLS:CN244567" @@ -79914,7 +77925,6 @@ MONDO:0009062 "SCTID:720401009" MONDO:0003177 "DOID:4868" MONDO:0003177 "NCIT:C5539" MONDO:0003177 "UMLS:C1335502" -MONDO:0013328 "ICD10:H35.5" MONDO:0013328 "DOID:0110362" MONDO:0013328 "UMLS:C3150879" MONDO:0013328 "OMIM:613617" @@ -79930,9 +77940,9 @@ MONDO:0014886 "UMLS:C4310745" HP:0000651 "MSH:D004172" HP:0000651 "UMLS:C0012569" HP:0000651 "SNOMEDCT_US:24982008" +MONDO:0006553 "ICD10CM:L75.2" MONDO:0006553 "MESH:D005588" MONDO:0006553 "GARD:0006462" -MONDO:0006553 "ICD10:L75.2" MONDO:0006553 "Wikipedia:Fox-Fordyce_disease" MONDO:0006553 "EFO:1000703" MONDO:0006553 "SCTID:65038009" @@ -79949,13 +77959,12 @@ MONDO:0007064 "SCTID:44940001" MONDO:0007064 "GARD:0005748" MONDO:0007064 "Orphanet:277" MONDO:0007064 "MedDRA:10066367" -MONDO:0007064 "ICD10:D81.3" MONDO:0007064 "OMIM:102700" MONDO:0007064 "MESH:C531816" MONDO:0007064 "ICD9:277.2" MONDO:0007064 "DOID:5810" MONDO:0016494 "Orphanet:231416" -MONDO:0016494 "ICD10:G61.0" +MONDO:0016494 "ICD10CM:G61.0" MONDO:0016494 "UMLS:CN201496" MONDO:0012058 "UMLS:C1837871" MONDO:0012058 "OMIM:608557" @@ -79966,9 +77975,8 @@ MONDO:0004561 "SCTID:423673009" MONDO:0004561 "DOID:8427" MONDO:0021026 "Orphanet:183447" MONDO:0019870 "Orphanet:96069" -MONDO:0019870 "SCTID:766053003" MONDO:0019870 "UMLS:CN244049" -MONDO:0019870 "ICD10:Q92.3" +MONDO:0019870 "SCTID:766053003" MONDO:0003364 "DOID:5275" MONDO:0003364 "UMLS:C1333746" MONDO:0003364 "NCIT:C5841" @@ -79985,11 +77993,11 @@ MONDO:0012316 "NCIT:C119058" NCBITaxon:33988 "PMID:8240958" NCBITaxon:33988 "PMID:11760958" NCBITaxon:33988 "GC_ID:11" -MONDO:0019011 "ICD10:G60.0" MONDO:0019011 "SCTID:398040009" MONDO:0019011 "DOID:0050538" MONDO:0019011 "GARD:0012433" MONDO:0019011 "Orphanet:65753" +MONDO:0019011 "ICD10CM:G60.0" MONDO:0002563 "UMLS:C1334297" MONDO:0002563 "DOID:3216" MONDO:0002563 "NCIT:C5787" @@ -80003,9 +78011,9 @@ MONDO:0006740 "MedDRA:10014567" MONDO:0006740 "UMLS:C0014008" MONDO:0006740 "GARD:0006331" MONDO:0018959 "UMLS:C2931826" -MONDO:0018959 "ICD10:G71.1" MONDO:0018959 "OMIM:608390" MONDO:0018959 "NCIT:C122788" +MONDO:0018959 "ICD10CM:G71.1" MONDO:0018959 "SCTID:702355008" MONDO:0018959 "Orphanet:612" MONDO:0018959 "MESH:C538353" @@ -80024,7 +78032,7 @@ MONDO:0005293 "NCIT:C34616" MONDO:0005293 "SCTID:53226007" MONDO:0005293 "EFO:0003874" MONDO:0016860 "UMLS:CN202203" -MONDO:0016860 "ICD10:D12.6" +MONDO:0016860 "ICD10CM:D12.6" MONDO:0016860 "Orphanet:261584" CL:0000037 "CALOHA:TS-0448" CL:0000037 "VHOG:0001485" @@ -80035,17 +78043,17 @@ MONDO:0017317 "SCTID:723455009" MONDO:0017317 "UMLS:C2931658" MONDO:0017317 "Orphanet:2874" MONDO:0017317 "GARD:0004311" -MONDO:0017317 "ICD10:Q85.8" +MONDO:0017317 "ICD10CM:Q85.8" MONDO:0017317 "MESH:C537893" -MONDO:0020352 "ICD10:G23.2" MONDO:0020352 "Orphanet:98933" MONDO:0020352 "UMLS:CN207200" +MONDO:0020352 "ICD10CM:G23.2" MONDO:0007322 "SCTID:254083002" MONDO:0007322 "ICD9:756.59" +MONDO:0007322 "ICD10CM:Q77.3" MONDO:0007322 "Orphanet:79346" MONDO:0007322 "OMIM:118651" MONDO:0007322 "MESH:C562961" -MONDO:0007322 "ICD10:Q77.3" MONDO:0023071 "GARD:0002130" MONDO:0020729 "Orphanet:229717" MONDO:0020729 "OMIM:601495" @@ -80062,14 +78070,13 @@ MONDO:0011914 "Orphanet:69735" MONDO:0011914 "OMIM:607823" MONDO:0011914 "DOID:0111361" MONDO:0014361 "DOID:0070056" -MONDO:0014361 "ICD10:F84.1" MONDO:0014361 "UMLS:C4014435" MONDO:0014361 "OMIM:615834" MONDO:0014361 "Orphanet:352490" MONDO:0000792 "DOID:0060517" MONDO:0016086 "GARD:0006842" -MONDO:0016086 "ICD10:M93.2" MONDO:0016086 "DOID:11760" +MONDO:0016086 "ICD10CM:M93.2" MONDO:0016086 "UMLS:CN200840" MONDO:0016086 "ICD9:732.5" MONDO:0016086 "SCTID:203392007" @@ -80089,7 +78096,7 @@ MONDO:0002971 "MESH:D018328" MONDO:0100244 "HP:0004818" MONDO:0100244 "SCTID:1963002" MONDO:0017488 "Orphanet:295073" -MONDO:0017488 "ICD10:Q71.5" +MONDO:0017488 "ICD10CM:Q71.5" MONDO:0024310 "SCTID:424802006" MONDO:0024310 "UMLS:C0744273" MONDO:0008054 "GARD:0006805" @@ -80097,7 +78104,6 @@ MONDO:0008054 "EFO:0000557" MONDO:0008054 "DOID:14203" MONDO:0008054 "MESH:C000598745" MONDO:0008054 "Orphanet:93672" -MONDO:0008054 "ICD10:M33.0" MONDO:0008054 "MESH:C538250" MONDO:0008054 "MedDRA:10008521" MONDO:0008054 "SCTID:1212005" @@ -80118,8 +78124,8 @@ MONDO:0009297 "UMLS:C0017980" MONDO:0009297 "MESH:D006030" MONDO:0009297 "Orphanet:69076" MONDO:0009297 "DOID:9432" -MONDO:0009297 "ICD10:E74.8" MONDO:0009297 "UMLS:C3245525" +MONDO:0009297 "ICD10CM:E74.8" MONDO:0009297 "OMIM:233100" MONDO:0009297 "MedDRA:10038457" MONDO:0009297 "SCTID:267430007" @@ -80134,7 +78140,6 @@ MONDO:0001831 "DOID:13919" MONDO:0001831 "UMLS:C0152194" MONDO:0001831 "SCTID:47099006" MONDO:0001831 "ICD9:367.22" -MONDO:0001831 "ICD10:H52.21" MONDO:0007734 "MESH:C564180" MONDO:0007734 "DOID:0110880" MONDO:0007734 "UMLS:C1840528" @@ -80152,29 +78157,27 @@ MONDO:0042974 "SCTID:30270006" MONDO:0042974 "GARD:0004215" MONDO:0042974 "UMLS:C0276324" MONDO:0042974 "ICD9:079.89" -MONDO:0011266 "DOID:0050759" MONDO:0011266 "OMIM:602668" +MONDO:0011266 "DOID:0050759" MONDO:0011266 "NCIT:C84680" MONDO:0011266 "Orphanet:606" -MONDO:0011266 "ICD10:G71.19" -MONDO:0011266 "ICD10:G71.1" +MONDO:0011266 "ICD10CM:G71.1" MONDO:0011266 "ICD9:359.2" MONDO:0011266 "GARD:0009728" MONDO:0014489 "UMLS:C4015184" +MONDO:0014489 "ICD10CM:G71.0" MONDO:0014489 "Orphanet:445110" MONDO:0014489 "OMIM:616094" -MONDO:0014489 "ICD10:G71.0" MONDO:0008552 "MESH:C566061" -MONDO:0008552 "ICD10:D69.4" MONDO:0008552 "Orphanet:140957" MONDO:0008552 "UMLS:C1861195" MONDO:0008552 "OMIM:187800" MONDO:0008552 "DOID:0060691" MONDO:0001185 "SCTID:84209002" +MONDO:0001185 "ICD10CM:F44.0" MONDO:0001185 "ICD9:300.12" MONDO:0001185 "DOID:11037" MONDO:0001185 "NCIT:C94328" -MONDO:0001185 "ICD10:F44.0" NCBITaxon:35278 "GC_ID:1" MONDO:0019285 "UMLS:CN227613" MONDO:0019285 "Orphanet:79370" @@ -80198,41 +78201,41 @@ MONDO:0000213 "UMLS:CN238808" MONDO:0000213 "OMIMPS:615952" MONDO:0600025 "NCIT:C142886" MONDO:0002413 "UMLS:C2919796" +MONDO:0002413 "ICD10CM:E74.01" MONDO:0002413 "DOID:2749" MONDO:0002413 "OMIM:232240" -MONDO:0002413 "ICD10:E74.01" -MONDO:0002413 "ICD10:E74.0" MONDO:0002413 "MESH:D005953" MONDO:0002413 "SCTID:7265005" MONDO:0002413 "OMIM:232220" MONDO:0002413 "Orphanet:364" MONDO:0002413 "MedDRA:10018464" +MONDO:0002413 "ICD10CM:E74.0" MONDO:0002413 "NCIT:C84733" MONDO:0002413 "OMIM:232200" MONDO:0030898 "OMIM:619164" MONDO:0012318 "OMIM:609630" MONDO:0012318 "Orphanet:67038" +MONDO:0017722 "ICD10CM:E75.0" MONDO:0017722 "OMIM:268800" MONDO:0017722 "UMLS:CN203618" -MONDO:0017722 "ICD10:E75.0" MONDO:0017722 "Orphanet:309162" MONDO:0011149 "GARD:0004478" MONDO:0011149 "MESH:C566621" MONDO:0011149 "UMLS:C1866183" MONDO:0011149 "OMIM:601811" NCBITaxon:44542 "GC_ID:1" -MONDO:0017076 "ICD10:Q05.9" -MONDO:0017076 "ICD10:Q05.7" -MONDO:0017076 "ICD10:Q05.1" +MONDO:0017076 "ICD10CM:Q05.6" +MONDO:0017076 "ICD10CM:Q05.9" +MONDO:0017076 "ICD10CM:Q05.4" MONDO:0017076 "Orphanet:268810" -MONDO:0017076 "ICD10:Q05.4" -MONDO:0017076 "ICD10:Q05.2" +MONDO:0017076 "ICD10CM:Q05.3" +MONDO:0017076 "ICD10CM:Q05.8" MONDO:0017076 "UMLS:CN202439" -MONDO:0017076 "ICD10:Q05.3" -MONDO:0017076 "ICD10:Q05.8" -MONDO:0017076 "ICD10:Q05.6" -MONDO:0008261 "ICD10:Q82.8" +MONDO:0017076 "ICD10CM:Q05.7" +MONDO:0017076 "ICD10CM:Q05.2" +MONDO:0017076 "ICD10CM:Q05.1" MONDO:0008261 "MESH:C562824" +MONDO:0008261 "ICD10CM:Q82.8" MONDO:0008261 "OMIM:173700" MONDO:0008261 "Orphanet:221039" MONDO:0004197 "NCIT:C39867" @@ -80240,7 +78243,6 @@ MONDO:0004197 "DOID:736" MONDO:0004197 "UMLS:C1518164" MONDO:0005143 "EFO:0001078" MONDO:0004854 "DOID:9699" -MONDO:0004854 "ICD10:P39.1" MONDO:0004854 "SCTID:34298002" MONDO:0004854 "NCIT:C116815" MONDO:0004854 "ICD9:771.6" @@ -80255,7 +78257,6 @@ MONDO:0010137 "OMIM:274900" MONDO:0010137 "MESH:C562771" MONDO:0005800 "SCTID:397513003" MONDO:0005800 "UMLS:C0019917" -MONDO:0005800 "ICD10:H00.01" MONDO:0005800 "NCIT:C118722" MONDO:0005800 "MESH:D006726" MONDO:0005800 "EFO:0007315" @@ -80272,8 +78273,8 @@ MONDO:0019675 "Orphanet:93359" MONDO:0019675 "OMIMPS:271640" MONDO:0019675 "GARD:0004982" MONDO:0019675 "SCTID:254100000" -MONDO:0019675 "ICD10:Q77.7" MONDO:0019675 "ICD9:719.80" +MONDO:0019675 "ICD10CM:Q77.7" MONDO:0019675 "ICD9:756.9" MONDO:0019675 "OMIM:271640" MONDO:0019675 "DOID:0112197" @@ -80292,25 +78293,26 @@ MONDO:0000642 "DOID:0060106" MONDO:0007799 "MESH:C564145" MONDO:0007799 "OMIM:146350" MONDO:0007799 "UMLS:C1840321" -MONDO:0006545 "UMLS:C0014742" MONDO:0006545 "NCIT:C3024" +MONDO:0006545 "UMLS:C0014742" MONDO:0006545 "SCTID:36715001" -MONDO:0006545 "ICD10:L51" MONDO:0006545 "GARD:0006372" +MONDO:0006545 "ICD10CM:L51" MONDO:0006545 "ICD9:695.1" +MONDO:0006545 "ICD10CM:L49-L54" MONDO:0006545 "ICD9:695.10" MONDO:0006545 "DOID:0050185" MONDO:0006545 "MESH:D004892" MONDO:0006545 "EFO:1000694" MONDO:0024280 "SCTID:416956002" MONDO:0024280 "NCIT:C26996" +MONDO:0030013 "OMIM:618847" HP:0004308 "SNOMEDCT_US:44103008" HP:0004308 "UMLS:C0085612" MONDO:0009355 "GARD:0009702" MONDO:0009355 "UMLS:C0268479" MONDO:0009355 "OMIM:236300" MONDO:0009355 "MESH:C535329" -MONDO:0030013 "OMIM:618847" MONDO:0015951 "Orphanet:183490" MONDO:0044723 "UMLS:C4310650" MONDO:0044723 "Orphanet:505208" @@ -80322,25 +78324,25 @@ MONDO:0008975 "SCTID:254060000" MONDO:0008975 "DOID:0080026" MONDO:0008975 "GARD:0004130" MONDO:0008975 "OMIM:215150" -MONDO:0008975 "ICD10:Q77.7" +MONDO:0008975 "ICD10CM:Q77.7" MONDO:0008975 "Orphanet:1427" HP:0009124 "UMLS:C4021524" MONDO:0013194 "OMIM:613241" -MONDO:0009921 "ICD10:Q87.8" MONDO:0009921 "SCTID:716091000" MONDO:0009921 "MESH:C535829" MONDO:0009921 "UMLS:C1849649" MONDO:0009921 "NCIT:C125418" +MONDO:0009921 "ICD10CM:Q87.8" MONDO:0009921 "GARD:0000344" MONDO:0009921 "OMIM:264480" MONDO:0009921 "Orphanet:2166" MONDO:0010829 "MESH:C563990" MONDO:0010829 "UMLS:C1838577" -MONDO:0010829 "ICD10:F01.1" MONDO:0010829 "Orphanet:199354" MONDO:0010829 "SCTID:703219008" MONDO:0010829 "DOID:13945" MONDO:0010829 "GARD:0010424" +MONDO:0010829 "ICD10CM:F01.1" MONDO:0010829 "OMIM:600142" MONDO:0002821 "UMLS:C0334327" MONDO:0002821 "DOID:3964" @@ -80353,30 +78355,30 @@ MONDO:0010099 "NCIT:C133084" MONDO:0010099 "Orphanet:309246" MONDO:0010099 "UMLS:C0268275" MONDO:0010099 "SCTID:71253000" +MONDO:0010099 "ICD10CM:E75.0" MONDO:0010099 "MESH:D049290" MONDO:0010099 "DOID:4795" MONDO:0010099 "OMIM:272750" -MONDO:0010099 "ICD10:E75.0" MONDO:0011045 "UMLS:C4275099" +MONDO:0011045 "ICD10CM:Q87.8" MONDO:0011045 "Orphanet:3434" MONDO:0011045 "UMLS:C1832440" MONDO:0011045 "SCTID:715533002" MONDO:0011045 "MESH:C537686" -MONDO:0011045 "ICD10:Q87.8" MONDO:0011045 "OMIM:601349" MONDO:0011045 "GARD:0003693" MONDO:0007986 "GARD:0003571" +MONDO:0007986 "ICD10CM:Q77.8" MONDO:0007986 "DOID:0111514" MONDO:0007986 "SCTID:22764001" MONDO:0007986 "OMIM:156530" MONDO:0007986 "Orphanet:2635" MONDO:0007986 "MESH:C537356" -MONDO:0007986 "ICD10:Q77.8" MONDO:0012182 "MESH:C563806" MONDO:0012182 "UMLS:C1836898" MONDO:0012182 "OMIM:609047" -MONDO:0016533 "ICD10:E85.0" MONDO:0016533 "Orphanet:238269" +MONDO:0016533 "ICD10CM:E85.0" MONDO:0016533 "UMLS:CN201610" MONDO:0020196 "Orphanet:98608" NCBITaxon:41013 "GC_ID:1" @@ -80391,9 +78393,9 @@ MONDO:0016579 "OMIM:612287" MONDO:0018712 "UMLS:C1304513" MONDO:0018712 "SCTID:403984006" MONDO:0018712 "UMLS:CN242120" -MONDO:0018712 "ICD10:D18.0" MONDO:0018712 "Orphanet:458758" MONDO:0018712 "NCIT:C45475" +MONDO:0018712 "ICD10CM:D18.0" MONDO:0012486 "MESH:C566904" MONDO:0012486 "UMLS:C1968893" MONDO:0012486 "OMIM:610420" @@ -80402,13 +78404,13 @@ MONDO:0045047 "MESH:C535814" MONDO:0045047 "SCTID:230193008" MONDO:0013560 "DOID:0060546" MONDO:0013560 "UMLS:C3888026" -MONDO:0013560 "ICD10:E70.3" MONDO:0013560 "Orphanet:79430" MONDO:0013560 "OMIM:614077" MONDO:0013560 "UMLS:CN201510" MONDO:0013560 "Orphanet:231537" +MONDO:0013560 "ICD10CM:E70.3" MONDO:0019955 "UMLS:CN206877" -MONDO:0019955 "ICD10:E16.8" +MONDO:0019955 "ICD10CM:E16.8" MONDO:0019955 "Orphanet:97261" MONDO:0042976 "SCTID:47903000" MONDO:0042976 "UMLS:C0042850" @@ -80419,17 +78421,16 @@ MONDO:0001257 "ICD9:362.14" MONDO:0001257 "UMLS:C0154834" MONDO:0001257 "SCTID:34037000" MONDO:0001257 "DOID:11295" -MONDO:0009251 "ICD10:E74.1" -MONDO:0009251 "DOID:5204" MONDO:0009251 "SCTID:28183005" +MONDO:0009251 "DOID:5204" +MONDO:0009251 "ICD10CM:E74.1" MONDO:0009251 "OMIM:229700" MONDO:0009251 "Orphanet:348" MONDO:0009251 "UMLS:C0016756" MONDO:0009251 "GARD:0002400" -MONDO:0009251 "ICD10:E74.19" MONDO:0009251 "NCIT:C128119" +MONDO:0016078 "ICD10CM:Q27.3" MONDO:0016078 "Orphanet:2039" -MONDO:0016078 "ICD10:Q27.3" MONDO:0011431 "UMLS:C1858556" MONDO:0011431 "Orphanet:99715" MONDO:0011431 "OMIM:604308" @@ -80437,31 +78438,30 @@ MONDO:0011431 "GARD:0008489" MONDO:0011431 "MESH:C536030" MONDO:0010725 "GARD:0004690" MONDO:0010725 "NCIT:C75483" -MONDO:0010725 "ICD10:Q14.1" MONDO:0010725 "OMIM:312700" +MONDO:0010725 "ICD10CM:Q14.1" MONDO:0010725 "DOID:0060763" MONDO:0010725 "SCTID:86923008" MONDO:0010725 "Orphanet:792" MONDO:0001859 "ICD9:733.7" -MONDO:0001859 "ICD10:M89.00" -MONDO:0001859 "ICD10:M89.0" +MONDO:0001859 "ICD10CM:M89.0" MONDO:0001859 "DOID:14022" MONDO:0014830 "Orphanet:466806" MONDO:0014830 "OMIM:616913" MONDO:0014830 "DOID:0111055" MONDO:0014830 "UMLS:C4310797" MONDO:0019454 "UMLS:C0002894" +MONDO:0019454 "ICD10CM:D46.2" MONDO:0019454 "ICDO:9983/3" MONDO:0019454 "NCIT:C7506" MONDO:0019454 "EFO:0003811" MONDO:0019454 "SCTID:398623004" MONDO:0019454 "Orphanet:86839" MONDO:0019454 "MESH:D000754" -MONDO:0019454 "ICD10:D46.2" MONDO:0019454 "MedDRA:10038270" -MONDO:0019107 "ICD10:D58.8" MONDO:0019107 "UMLS:C0272052" MONDO:0019107 "SCTID:37272000" +MONDO:0019107 "ICD10CM:D58.8" MONDO:0019107 "DOID:0050641" MONDO:0019107 "UMLS:C1849387" MONDO:0019107 "GARD:0012916" @@ -80472,7 +78472,6 @@ MONDO:0017020 "UMLS:CN202333" MONDO:0021634 "NCIT:C7342" MONDO:0021634 "UMLS:C0345976" MONDO:0004750 "NCIT:C97155" -MONDO:0004750 "ICD10:F80.9" MONDO:0004750 "HP:0002463" MONDO:0004750 "DOID:93" MONDO:0004750 "MESH:D007806" @@ -80480,12 +78479,12 @@ MONDO:0004750 "EFO:0005425" MONDO:0016945 "Orphanet:262758" MONDO:0016945 "GARD:0005361" MONDO:0009134 "ICD9:285.8" +MONDO:0009134 "ICD10CM:D64.4" MONDO:0009134 "SCTID:68870007" MONDO:0009134 "Orphanet:98873" MONDO:0009134 "OMIM:224100" MONDO:0009134 "GARD:0002001" MONDO:0009134 "DOID:0111401" -MONDO:0009134 "ICD10:D64.4" MONDO:0012872 "OMIM:612348" MONDO:0012872 "MESH:C567341" MONDO:0010608 "MESH:C564411" @@ -80494,19 +78493,18 @@ MONDO:0010608 "OMIM:306960" NCBITaxon:10240 "GC_ID:1" NCBITaxon:2585030 "GC_ID:1" MONDO:0019525 "SCTID:10567003" +MONDO:0019525 "ICD10CM:Q97.1" MONDO:0019525 "GARD:0007754" -MONDO:0019525 "ICD10:Q97.1" MONDO:0019525 "MESH:C536502" MONDO:0019525 "ICD9:758.81" MONDO:0019525 "Orphanet:9" MONDO:0019525 "UMLS:C0265496" MONDO:0016299 "Orphanet:2165" MONDO:0016299 "UMLS:CN201097" -MONDO:0016299 "ICD10:Q04.2" +MONDO:0016299 "ICD10CM:Q04.2" MONDO:0004366 "DOID:7817" MONDO:0004366 "UMLS:C0280792" MONDO:0004366 "NCIT:C8272" -MONDO:0004633 "ICD10:C81.2" MONDO:0004633 "MESH:D006689" MONDO:0004633 "ICDO:9652/3" MONDO:0004633 "Orphanet:98844" @@ -80515,11 +78513,11 @@ MONDO:0004633 "NCIT:C3517" MONDO:0004633 "ICD9:201.6" MONDO:0004633 "SCTID:118609008" MONDO:0004633 "DOID:8654" +MONDO:0018328 "ICD10CM:E78.0" MONDO:0018328 "OMIM:602247" MONDO:0018328 "OMIM:603813" MONDO:0018328 "SCTID:238078005" MONDO:0018328 "OMIM:143890" -MONDO:0018328 "ICD10:E78.0" MONDO:0018328 "Orphanet:391665" MONDO:0017241 "OMIM:614066" MONDO:0017241 "Orphanet:280763" @@ -80533,18 +78531,18 @@ MONDO:0007418 "OMIM:124400" MONDO:0003169 "NCIT:C5128" MONDO:0003169 "DOID:4855" MONDO:0003169 "UMLS:C1333284" -MONDO:0017527 "ICD10:Q69.0" +MONDO:0017527 "ICD10CM:Q69.0" MONDO:0017527 "Orphanet:295152" MONDO:0017527 "UMLS:CN203258" MONDO:0021529 "NCIT:C8529" MONDO:0021529 "UMLS:C0684831" MONDO:0021529 "SCTID:92058007" MONDO:0021529 "ICD9:229.8" -MONDO:0010302 "ICD10:Q87.8" MONDO:0010302 "OMIM:300337" MONDO:0010302 "GARD:0002992" MONDO:0010302 "Orphanet:435" MONDO:0010302 "DOID:3156" +MONDO:0010302 "ICD10CM:Q87.8" MONDO:0024618 "SCTID:721764008" MONDO:0024618 "UMLS:C4303135" MONDO:0100457 "OMIM:200400" @@ -80560,8 +78558,8 @@ MONDO:0012371 "DOID:0060581" MONDO:0012371 "OMIM:609942" MONDO:0019840 "SCTID:720413004" MONDO:0019840 "Orphanet:956" +MONDO:0019840 "ICD10CM:Q87.8" MONDO:0019840 "GARD:0000511" -MONDO:0019840 "ICD10:Q87.8" MONDO:0000090 "UMLS:CN239267" MONDO:0000090 "OMIMPS:157640" MONDO:0008578 "OMIM:189150" @@ -80572,12 +78570,11 @@ MONDO:0002290 "NCIT:C3557" MONDO:0002290 "ICD9:184.3" MONDO:0002290 "SCTID:371979001" MONDO:0002290 "UMLS:C1333070" -MONDO:0002290 "ICD10:C51.2" MONDO:0004249 "EFO:0008495" MONDO:0004249 "NCIT:C9043" MONDO:0004249 "DOID:7502" MONDO:0004249 "UMLS:C0278650" -MONDO:0018643 "ICD10:D71" +MONDO:0018643 "ICD10CM:D71" MONDO:0018643 "Orphanet:447740" MONDO:0009524 "MESH:C537446" MONDO:0009524 "SCTID:763743003" @@ -80585,8 +78582,8 @@ MONDO:0009524 "Orphanet:1891" MONDO:0009524 "UMLS:C0796001" MONDO:0009524 "GARD:0003523" MONDO:0009524 "OMIM:246555" -MONDO:0008754 "ICD10:Q87.8" MONDO:0008754 "MESH:C537051" +MONDO:0008754 "ICD10CM:Q87.8" MONDO:0008754 "OMIM:203550" MONDO:0008754 "GARD:0000605" MONDO:0008754 "UMLS:C0795895" @@ -80594,7 +78591,6 @@ MONDO:0008754 "Orphanet:1005" NCBITaxon:53469 "GC_ID:1" MONDO:0014550 "Orphanet:101016" MONDO:0014550 "Orphanet:768" -MONDO:0014550 "ICD10:I45.8" MONDO:0014550 "OMIM:616249" MONDO:0014550 "UMLS:C4015695" MONDO:0014550 "DOID:0110656" @@ -80603,12 +78599,12 @@ MONDO:0016768 "UMLS:CN226996" MONDO:0034150 "Orphanet:558411" MONDO:0018968 "NCIT:C124549" MONDO:0018968 "MedDRA:10022034" -MONDO:0018968 "ICD10:Q00.2" MONDO:0018968 "Orphanet:63259" MONDO:0018968 "SCTID:2438005" MONDO:0018968 "GARD:0010506" MONDO:0018968 "UMLS:C0152234" MONDO:0018968 "ICD9:740.2" +MONDO:0018968 "ICD10CM:Q00.2" CL:0002132 "FMA:72299" MONDO:0040871 "SCTID:15945005" MONDO:0003692 "UMLS:C0279548" @@ -80618,7 +78614,7 @@ MONDO:0001224 "NCIT:C34353" MONDO:0001224 "SCTID:67678004" MONDO:0001224 "UMLS:C0001309" MONDO:0001224 "ICD9:372.05" -MONDO:0001224 "ICD10:H10.1" +MONDO:0001224 "ICD10CM:H10.1" MONDO:0001224 "DOID:11203" MONDO:0006838 "SCTID:10528009" MONDO:0006838 "EFO:1001023" @@ -80634,7 +78630,6 @@ MONDO:0014433 "Orphanet:110" MONDO:0014433 "EFO:0009024" MONDO:0014433 "OMIM:615982" MONDO:0014433 "GARD:0000823" -MONDO:0014433 "ICD10:Q87.89" MONDO:0014433 "OMIM:209900" MONDO:0014433 "MESH:C537912" MONDO:0014433 "DOID:0110126" @@ -80643,12 +78638,12 @@ NCBITaxon:693997 "GC_ID:1" MONDO:0002849 "DOID:4047" MONDO:0002849 "UMLS:C1333975" MONDO:0002849 "NCIT:C5834" -MONDO:0018181 "ICD10:L00" MONDO:0018181 "ICD9:695.81" MONDO:0018181 "MESH:D013206" MONDO:0018181 "MedDRA:10041929" MONDO:0018181 "EFO:0007473" MONDO:0018181 "SCTID:277475006" +MONDO:0018181 "ICD10CM:L00" MONDO:0018181 "UMLS:C0038165" MONDO:0018181 "DOID:9063" MONDO:0018181 "UMLS:C0678185" @@ -80662,12 +78657,12 @@ MONDO:0002626 "SCTID:126977003" MONDO:0002626 "NCIT:C5829" MONDO:0002626 "DOID:337" MONDO:0020361 "Orphanet:98950" -MONDO:0020361 "ICD10:Q11.2" MONDO:0020361 "DOID:0111718" +MONDO:0020361 "ICD10CM:Q11.2" MONDO:0010472 "SCTID:733451007" +MONDO:0010472 "ICD10CM:E77.8" MONDO:0010472 "OMIM:300884" MONDO:0010472 "GARD:0012401" -MONDO:0010472 "ICD10:E77.8" MONDO:0010472 "UMLS:C3550904" MONDO:0010472 "Orphanet:324422" MONDO:0010472 "DOID:0080470" @@ -80675,27 +78670,27 @@ MONDO:0700035 "NCIT:C36535" MONDO:0700035 "MESH:C537823" MONDO:0005436 "EFO:0004889" MONDO:0017935 "UMLS:C4303475" -MONDO:0017935 "ICD10:E16.1" MONDO:0017935 "Orphanet:324575" MONDO:0017935 "SCTID:721234004" +MONDO:0017935 "ICD10CM:E16.1" HP:0008386 "UMLS:C1859077" MONDO:0008812 "Orphanet:1133" MONDO:0008812 "MESH:C537427" +MONDO:0008812 "ICD10CM:Q87.8" MONDO:0008812 "OMIM:207780" MONDO:0008812 "UMLS:C0342280" MONDO:0008812 "SCTID:237610008" -MONDO:0008812 "ICD10:Q87.8" MONDO:0008812 "ICD9:753.3" MONDO:0008812 "GARD:0008509" MONDO:0012651 "UMLS:C1969796" -MONDO:0012651 "ICD10:G11.4" MONDO:0012651 "OMIM:611302" MONDO:0012651 "MESH:C566969" MONDO:0012651 "DOID:0050941" MONDO:0012651 "Orphanet:397946" +MONDO:0012651 "ICD10CM:G11.4" MONDO:0015639 "UMLS:CN226718" -MONDO:0015639 "ICD10:G40.1" MONDO:0015639 "Orphanet:166302" +MONDO:0015639 "ICD10CM:G40.1" MONDO:0030044 "OMIM:618886" NCBITaxon:37727 "GC_ID:1" MONDO:0006040 "MESH:D000140" @@ -80704,11 +78699,12 @@ MONDO:0006040 "NCIT:C98969" MONDO:0006040 "UMLS:C0001125" MONDO:0100309 "GARD:0006614" MONDO:0100309 "DOID:0050951" +MONDO:0100309 "ICD10CM:G10-G14" MONDO:0100309 "MESH:C531684" +MONDO:0100309 "ICD10CM:G11" MONDO:0100309 "GARD:0010748" MONDO:0100309 "Orphanet:183518" MONDO:0100309 "SCTID:763597000" -MONDO:0100309 "ICD10:G11" NCBITaxon:810 "PMID:21048221" NCBITaxon:810 "GC_ID:11" NCBITaxon:810 "PMID:10319462" @@ -80718,7 +78714,7 @@ NCBITaxon:810 "PMID:9103632" NCBITaxon:810 "PMID:21048222" NCBITaxon:810 "PMID:25618261" NCBITaxon:810 "PMID:9103637" -MONDO:0018107 "ICD10:B00.1" +MONDO:0018107 "ICD10CM:B00.1" MONDO:0018107 "Orphanet:35061" MONDO:0018107 "UMLS:CN204468" MONDO:0014166 "UMLS:C3809369" @@ -80745,11 +78741,11 @@ MONDO:0033653 "OMIM:619062" MONDO:0016243 "NCIT:C35287" MONDO:0016243 "Orphanet:2133" MONDO:0016243 "MedDRA:10053215" -MONDO:0016243 "ICD10:D58.2" MONDO:0016243 "DOID:5379" MONDO:0016243 "ICD9:282.7" MONDO:0016243 "UMLS:C0238159" MONDO:0016243 "GARD:0002641" +MONDO:0016243 "ICD10CM:D58.2" MONDO:0016243 "SCTID:25065001" MONDO:0031446 "MESH:C564336" MONDO:0031446 "Orphanet:238475" @@ -80761,14 +78757,14 @@ MONDO:0014003 "Orphanet:3451" MONDO:0014003 "OMIM:615006" MONDO:0014003 "UMLS:C3554316" MONDO:0016149 "Orphanet:207094" +MONDO:0008357 "ICD10CM:Q87.2" MONDO:0008357 "OMIM:179250" MONDO:0008357 "MESH:C536262" MONDO:0008357 "Orphanet:2252" MONDO:0008357 "GARD:0004626" -MONDO:0008357 "ICD10:Q87.2" MONDO:0008357 "SCTID:716092007" MONDO:0018422 "Orphanet:401835" -MONDO:0018422 "ICD10:G11.4" +MONDO:0018422 "ICD10CM:G11.4" MONDO:0018422 "UMLS:CN226129" MONDO:0007481 "GARD:0003224" MONDO:0007481 "Orphanet:35688" @@ -80776,7 +78772,7 @@ MONDO:0007481 "SCTID:17818006" MONDO:0007481 "UMLS:C0265309" MONDO:0007481 "DOID:0060847" MONDO:0007481 "Orphanet:240" -MONDO:0007481 "ICD10:Q77.8" +MONDO:0007481 "ICD10CM:Q77.8" MONDO:0007481 "NCIT:C126560" MONDO:0007481 "OMIM:127300" MONDO:0007481 "ICD9:756.59" @@ -80812,39 +78808,39 @@ MONDO:0012221 "UMLS:C1836545" MONDO:0012221 "Orphanet:3137" MONDO:0012221 "OMIM:609241" MONDO:0012221 "Orphanet:79279" -MONDO:0012221 "ICD10:E77.1" MONDO:0012221 "GARD:0003903" +MONDO:0012221 "ICD10CM:E77.1" MONDO:0012221 "Orphanet:79281" MONDO:0011932 "Orphanet:55654" MONDO:0011932 "MESH:C564312" MONDO:0011932 "DOID:0110703" MONDO:0011932 "OMIM:607903" MONDO:0011932 "UMLS:C1842839" -MONDO:0016464 "ICD10:E13" +MONDO:0016464 "ICD10CM:E13" MONDO:0016464 "UMLS:C0342337" MONDO:0016464 "Orphanet:2298" MONDO:0016464 "GARD:0003009" -MONDO:0009798 "ICD10:Q87.8" MONDO:0009798 "Orphanet:3042" MONDO:0009798 "SCTID:726709001" MONDO:0009798 "GARD:0004488" MONDO:0009798 "MESH:C536420" +MONDO:0009798 "ICD10CM:Q87.8" MONDO:0009798 "UMLS:C0796121" MONDO:0009798 "OMIM:259050" MONDO:0017410 "Orphanet:2940" MONDO:0017410 "MESH:D065708" -MONDO:0017410 "ICD10:Q04.6" MONDO:0017410 "DOID:0060263" MONDO:0017410 "MedDRA:10036172" MONDO:0017410 "HP:0002132" MONDO:0017410 "OMIM:175780" +MONDO:0017410 "ICD10CM:Q04.6" MONDO:0017410 "GARD:0007430" MONDO:0008428 "NCIT:C85063" MONDO:0008428 "MESH:D025962" -MONDO:0008428 "ICD10:Q04.8" MONDO:0008428 "GARD:0007627" MONDO:0008428 "Orphanet:95494" MONDO:0008428 "SCTID:7611002" +MONDO:0008428 "ICD10CM:Q04.8" MONDO:0008428 "UMLS:C0338503" MONDO:0008428 "DOID:0060857" MONDO:0008428 "OMIM:182230" @@ -80860,10 +78856,9 @@ MONDO:0015535 "UMLS:C0043322" MONDO:0015535 "SCTID:399970005" MONDO:0015535 "MedDRA:10052575" MONDO:0015535 "GARD:0013186" -MONDO:0015535 "ICD10:D76.3" +MONDO:0015535 "ICD10CM:D76.3" MONDO:0015535 "Orphanet:158003" MONDO:0014400 "DOID:0110392" -MONDO:0014400 "ICD10:H35.5" MONDO:0014400 "UMLS:C4014681" MONDO:0014400 "OMIM:615922" MONDO:0002229 "UMLS:C0341823" @@ -80877,6 +78872,7 @@ MONDO:0001459 "DOID:12171" MONDO:0001459 "UMLS:C0748226" MONDO:0001459 "MESH:D020425" MONDO:0020140 "Orphanet:98540" +NCBITaxon:6939 "GC_ID:1" MONDO:0011462 "UMLS:C1858361" MONDO:0011462 "Orphanet:69126" MONDO:0011462 "OMIM:604416" @@ -80886,10 +78882,9 @@ MONDO:0011462 "SCTID:724015007" MONDO:0011462 "GARD:0009176" MONDO:0011462 "MESH:C536253" MONDO:0023657 "OMIM:619320" -NCBITaxon:6939 "GC_ID:1" MONDO:0016651 "Orphanet:251009" -MONDO:0016651 "ICD10:Q99.8" -MONDO:0018851 "ICD10:L85.8" +MONDO:0016651 "ICD10CM:Q99.8" +MONDO:0018851 "ICD10CM:L85.8" MONDO:0018851 "SCTID:716774008" MONDO:0018851 "UMLS:CN227546" MONDO:0018851 "Orphanet:493" @@ -80911,17 +78906,17 @@ MONDO:0016629 "UMLS:CN236380" MONDO:0016629 "Orphanet:248326" MONDO:0013729 "OMIM:614391" MONDO:0015606 "UMLS:CN199978" -MONDO:0015606 "ICD10:Q99.8" +MONDO:0015606 "ICD10CM:Q99.8" MONDO:0015606 "GARD:0013170" MONDO:0015606 "Orphanet:1643" MONDO:0015606 "SCTID:726733007" MONDO:0000447 "GARD:0009457" MONDO:0000447 "MedDRA:10083939" MONDO:0000447 "OMIM:174050" -MONDO:0000447 "ICD10:Q44.6" MONDO:0000447 "HP:0006557" MONDO:0000447 "OMIMPS:174050" MONDO:0000447 "NCIT:C82833" +MONDO:0000447 "ICD10CM:Q44.6" MONDO:0000447 "Orphanet:2924" MONDO:0000447 "SCTID:72925005" MONDO:0000447 "UMLS:C0158683" @@ -80933,11 +78928,11 @@ MONDO:0006617 "MESH:D012872" MONDO:0006617 "EFO:1000774" MONDO:0006617 "UMLS:C0037275" MONDO:0006617 "DOID:2731" -MONDO:0021001 "ICD10:E83.1" MONDO:0021001 "NCIT:C84764" MONDO:0021001 "ICD9:275.01" MONDO:0021001 "UMLS:CN242134" MONDO:0021001 "OMIM:235200" +MONDO:0021001 "ICD10CM:E83.1" MONDO:0021001 "Orphanet:139498" MONDO:0021001 "DOID:0111029" MONDO:0021001 "EFO:0006513" @@ -80947,7 +78942,7 @@ MONDO:0004203 "DOID:738" MONDO:0004203 "NCIT:C39866" MONDO:0004203 "UMLS:C1517154" MONDO:0041526 "SCTID:363681007" -MONDO:0041526 "ICD10:O00.O08" +MONDO:0041526 "ICD10CM:O00-O08" CL:1001576 "CALOHA:TS-1252" MONDO:0002628 "NCIT:C7134" MONDO:0002628 "UMLS:C1332591" @@ -80955,34 +78950,32 @@ MONDO:0002628 "DOID:3374" MONDO:0005081 "OMIM:609403" MONDO:0005081 "OMIMPS:189800" MONDO:0005081 "NCIT:C85021" -MONDO:0005081 "ICD10:O14" MONDO:0005081 "ICD9:642.41" +MONDO:0005081 "ICD10CM:O14.0" MONDO:0005081 "OMIM:609404" MONDO:0005081 "DOID:10591" -MONDO:0005081 "ICD10:O14.9" MONDO:0005081 "OMIM:609402" MONDO:0005081 "Orphanet:275555" MONDO:0005081 "MedDRA:10036485" MONDO:0005081 "MESH:D011225" -MONDO:0005081 "ICD10:O14.90" -MONDO:0005081 "ICD10:O14.1" MONDO:0005081 "ICD9:642.40" MONDO:0005081 "ICD9:642.43" MONDO:0005081 "EFO:0000668" -MONDO:0005081 "ICD10:O14.2" -MONDO:0005081 "ICD10:O14.0" +MONDO:0005081 "ICD10CM:O14.9" MONDO:0005081 "SCTID:398254007" MONDO:0005081 "ICD9:642.44" MONDO:0005081 "OMIM:189800" +MONDO:0005081 "ICD10CM:O14.1" +MONDO:0005081 "ICD10CM:O14.2" MONDO:0005081 "ICD9:642.42" MONDO:0005081 "OMIM:614595" -MONDO:0018487 "ICD10:D70" MONDO:0018487 "Orphanet:420699" +MONDO:0018487 "ICD10CM:D70" MONDO:0017233 "SCTID:721219005" -MONDO:0017233 "ICD10:A81.8" MONDO:0017233 "Orphanet:280397" MONDO:0017233 "UMLS:C4303482" MONDO:0017233 "UMLS:CN202723" +MONDO:0017233 "ICD10CM:A81.8" MONDO:0015921 "Orphanet:182079" NCBITaxon:31953 "PMID:19244447" NCBITaxon:31953 "GC_ID:11" @@ -80992,7 +78985,6 @@ MONDO:0013916 "UMLS:C3539071" MONDO:0013916 "Orphanet:2318" MONDO:0004659 "DOID:8792" MONDO:0004659 "SCTID:92590009" -MONDO:0004659 "ICD10:D09.2" MONDO:0004659 "UMLS:C0154094" MONDO:0004659 "ICD9:234.0" MONDO:0001888 "DOID:14139" @@ -81004,7 +78996,7 @@ MONDO:0005605 "UMLS:C0334266" MONDO:0005605 "NCIT:C4115" MONDO:0005605 "ICDO:8120/0" MONDO:0004835 "ICD9:728.86" -MONDO:0004835 "ICD10:M72.6" +MONDO:0004835 "ICD10CM:M72.6" MONDO:0004835 "UMLS:C0238124" MONDO:0004835 "SCTID:52486002" MONDO:0004835 "GARD:0006454" @@ -81026,12 +79018,12 @@ MONDO:0011874 "SCTID:724278007" MONDO:0011874 "OMIM:607626" MONDO:0016338 "UMLS:CN226906" MONDO:0016338 "Orphanet:217629" +MONDO:0018674 "ICD10CM:K11.2" MONDO:0018674 "NCIT:C82887" MONDO:0018674 "SCTID:448131008" -MONDO:0018674 "ICD10:K11.2" MONDO:0018674 "Orphanet:449432" MONDO:0014238 "Orphanet:391307" -MONDO:0014238 "ICD10:Q87.8" +MONDO:0014238 "ICD10CM:Q87.8" MONDO:0014238 "UMLS:C3809853" MONDO:0014238 "OMIM:615541" MONDO:0004189 "SCTID:15284007" @@ -81045,7 +79037,7 @@ MONDO:0011054 "UMLS:C1832432" MONDO:0011054 "SCTID:726735000" MONDO:0011054 "MESH:C563338" MONDO:0011054 "Orphanet:1027" -MONDO:0011054 "ICD10:Q73.0" +MONDO:0011054 "ICD10CM:Q73.0" MONDO:0011054 "OMIM:601360" MONDO:0006389 "EFO:1000498" MONDO:0006389 "DOID:3252" @@ -81058,15 +79050,15 @@ MONDO:0023206 "UMLS:C1708107" MONDO:0008207 "MESH:D046789" MONDO:0008207 "DOID:13357" MONDO:0008207 "SCTID:36071006" +MONDO:0008207 "ICD10CM:M22.4" MONDO:0008207 "UMLS:C0008475" MONDO:0008207 "Orphanet:1428" -MONDO:0008207 "ICD10:M22.4" MONDO:0008207 "OMIM:168900" MONDO:0008207 "ICD9:717.7" NCBITaxon:583 "PMID:26944634" NCBITaxon:583 "GC_ID:11" +MONDO:0017779 "ICD10CM:E77.1" MONDO:0017779 "ICD9:277.89" -MONDO:0017779 "ICD10:E77.1" MONDO:0017779 "SCTID:238048001" MONDO:0017779 "OMIM:609242" MONDO:0017779 "Orphanet:3137" @@ -81081,13 +79073,14 @@ MONDO:0012456 "ICD9:743.35" MONDO:0012456 "MESH:C537786" MONDO:0012456 "Orphanet:83461" MONDO:0012456 "OMIM:610256" -MONDO:0012456 "ICD10:Q12.3" +MONDO:0012456 "ICD10CM:Q12.3" MONDO:0012456 "MedDRA:10002947" MONDO:0012456 "SCTID:35387008" MONDO:0012456 "NCIT:C35172" MONDO:0024647 "SCTID:95566004" -MONDO:0024647 "ICD10:N21" +MONDO:0024647 "ICD10CM:N21" MONDO:0024647 "NCIT:C114688" +MONDO:0024647 "ICD10CM:N20-N23" MONDO:0024647 "UMLS:C0451641" MONDO:0024647 "DOID:0080653" MONDO:0007650 "OMIM:137245" @@ -81096,7 +79089,6 @@ MONDO:0007650 "EFO:0000191" MONDO:0007650 "Orphanet:52417" MONDO:0007650 "Wikipedia:MALT_lymphoma" MONDO:0007650 "ICDO:9699/3" -MONDO:0007650 "ICD10:C88.4" MONDO:0007650 "DOID:0050909" MONDO:0007650 "ONCOTREE:EMALT" MONDO:0007650 "SCTID:277622004" @@ -81108,7 +79100,7 @@ MONDO:0007650 "UMLS:C0242647" MONDO:0009609 "GARD:0002733" MONDO:0009609 "Orphanet:622" MONDO:0009609 "Orphanet:2170" -MONDO:0009609 "ICD10:E72.1" +MONDO:0009609 "ICD10CM:E72.1" MONDO:0009609 "GARD:0003577" MONDO:0009609 "EFO:0005597" MONDO:0009609 "SCTID:721187005" @@ -81128,9 +79120,9 @@ MONDO:0010109 "MESH:C536496" MONDO:0010109 "GARD:0005146" MONDO:0010109 "OMIM:273390" MONDO:0010109 "GARD:0003348" -MONDO:0018383 "ICD10:M93.9" MONDO:0018383 "Orphanet:399380" -MONDO:0011934 "ICD10:C49.9" +MONDO:0018383 "ICD10CM:M93.9" +MONDO:0011934 "ICD10CM:C49.9" MONDO:0011934 "ICDO:8832/3" MONDO:0011934 "OMIM:607907" MONDO:0011934 "UMLS:C0392784" @@ -81150,8 +79142,8 @@ MONDO:0060779 "UMLS:C0341702" MONDO:0060779 "NCIT:C78296" MONDO:0014719 "OMIM:616647" MONDO:0014719 "DOID:0080458" +MONDO:0014719 "ICD10CM:G40.4" MONDO:0014719 "UMLS:C4225256" -MONDO:0014719 "ICD10:G40.4" MONDO:0014719 "Orphanet:457375" MONDO:0002121 "DOID:1802" MONDO:0002121 "SCTID:32595002" @@ -81160,10 +79152,10 @@ MONDO:0002121 "ICD9:355.9" MONDO:0020563 "EFO:0003085" MONDO:0020563 "DOID:0080531" MONDO:0020563 "NCIT:C3704" +MONDO:0020563 "ICD10CM:C49.9" MONDO:0020563 "ICDO:8858/3" MONDO:0020563 "UMLS:C0205824" MONDO:0020563 "ONCOTREE:DDLS" -MONDO:0020563 "ICD10:C49.9" MONDO:0020563 "SCTID:404072004" MONDO:0020563 "Orphanet:99970" MONDO:0020563 "ICD9:171.9" @@ -81192,9 +79184,9 @@ MONDO:0013623 "Orphanet:98885" MONDO:0013623 "OMIM:614201" MONDO:0013623 "DOID:0111057" MONDO:0013623 "GARD:0013293" +MONDO:0013623 "ICD10CM:D69.8" MONDO:0013623 "Orphanet:73271" MONDO:0013623 "SCTID:765977002" -MONDO:0013623 "ICD10:D69.8" MONDO:0023659 "OMIM:619340" MONDO:0006071 "DOID:2683" MONDO:0006071 "EFO:1000070" @@ -81204,11 +79196,11 @@ MONDO:0006071 "ICDO:9013/0" MONDO:0006071 "UMLS:C0001422" MONDO:0018266 "Orphanet:370109" MONDO:0018266 "UMLS:C1876175" -MONDO:0018266 "ICD10:G11.3" +MONDO:0018266 "ICD10CM:G11.3" MONDO:0015700 "OMIM:609536" -MONDO:0015700 "ICD10:D84.1" MONDO:0015700 "OMIM:613789" MONDO:0015700 "OMIM:610102" +MONDO:0015700 "ICD10CM:D84.1" MONDO:0015700 "OMIM:613790" MONDO:0015700 "OMIM:612446" MONDO:0015700 "Orphanet:169150" @@ -81219,14 +79211,14 @@ MONDO:0004438 "NCIT:C7566" MONDO:0010685 "OMIM:310460" MONDO:0010685 "MESH:C564091" MONDO:0010685 "UMLS:C1839612" -MONDO:0005996 "UMLS:C0040954" MONDO:0005996 "ICD9:127.3" +MONDO:0005996 "UMLS:C0040954" MONDO:0005996 "GARD:0010720" +MONDO:0005996 "ICD10CM:B79" MONDO:0005996 "SCTID:3752003" MONDO:0005996 "NCIT:C128399" MONDO:0005996 "MESH:D014257" MONDO:0005996 "DOID:1252" -MONDO:0005996 "ICD10:B79" MONDO:0005996 "EFO:0007524" MONDO:0003562 "NCIT:C39955" MONDO:0003562 "DOID:5639" @@ -81241,13 +79233,13 @@ MONDO:0044685 "Orphanet:499047" MONDO:0012864 "GARD:0013206" MONDO:0012864 "OMIM:612313" MONDO:0012864 "UMLS:C4304531" -MONDO:0012864 "ICD10:Q93.5" MONDO:0012864 "SCTID:719659003" MONDO:0012864 "DOID:0060428" +MONDO:0012864 "ICD10CM:Q93.5" MONDO:0012864 "UMLS:C2676739" MONDO:0012864 "Orphanet:251019" MONDO:0012864 "MESH:C567350" -MONDO:0015054 "ICD10:D84.1" +MONDO:0015054 "ICD10CM:D84.1" MONDO:0015054 "Orphanet:100051" MONDO:0015054 "OMIM:106100" MONDO:0015054 "UMLS:C1862892" @@ -81258,11 +79250,11 @@ MONDO:0011737 "MESH:C564653" CL:0000446 "BTO:0004712" CL:0000446 "FMA:69078" CL:0000446 "CALOHA:TS-2140" +MONDO:0021478 "ICD10CM:D10.6" MONDO:0021478 "NCIT:C3595" MONDO:0021478 "UMLS:C0153938" MONDO:0021478 "SCTID:188800003" MONDO:0021478 "ICD9:210.7" -MONDO:0021478 "ICD10:D10.6" MONDO:0005879 "GARD:0007238" MONDO:0005879 "ICD9:130.7" MONDO:0005879 "SCTID:416481006" @@ -81282,8 +79274,7 @@ MONDO:0014110 "Orphanet:98991" MONDO:0014110 "OMIM:615274" MONDO:0014110 "DOID:0110251" MONDO:0014110 "Orphanet:98994" -MONDO:0014110 "ICD10:Q12.0" -MONDO:0016495 "ICD10:G61.0" +MONDO:0016495 "ICD10CM:G61.0" MONDO:0016495 "UMLS:CN201497" MONDO:0016495 "Orphanet:231419" MONDO:0012059 "UMLS:C1837868" @@ -81291,19 +79282,17 @@ MONDO:0012059 "MESH:C563909" MONDO:0012059 "OMIM:608562" MONDO:0012059 "Orphanet:93334" MONDO:0004919 "DOID:9911" -MONDO:0004919 "ICD10:N43.1" +MONDO:0004919 "ICD10CM:N43.1" MONDO:0004919 "UMLS:C0156300" MONDO:0004919 "SCTID:11666007" MONDO:0004919 "ICD9:603.1" MONDO:0009533 "Orphanet:1563" -MONDO:0009533 "ICD10:Q87.8" MONDO:0009533 "SCTID:721083007" MONDO:0009533 "GARD:0000237" MONDO:0009533 "UMLS:C1855477" MONDO:0009533 "OMIM:247410" MONDO:0009533 "MESH:C535769" MONDO:0013446 "HGNC:13436" -MONDO:0013446 "ICD10:H35.5" MONDO:0013446 "DOID:0110329" MONDO:0013446 "MESH:C565327" MONDO:0013446 "OMIM:613826" @@ -81311,7 +79300,6 @@ MONDO:0013446 "GARD:0010490" MONDO:0006483 "UMLS:C1275859" MONDO:0006483 "EFO:1000611" MONDO:0006483 "NCIT:C39856" -MONDO:0005113 "ICD10:A49" MONDO:0005113 "MESH:D016908" MONDO:0005113 "ICD9:041.89" MONDO:0005113 "ICD9:040.89" @@ -81321,7 +79309,7 @@ MONDO:0005113 "EFO:0000771" MONDO:0005113 "NCIT:C2890" MONDO:0005113 "MESH:D016905" MONDO:0005113 "ICD9:041.9" -MONDO:0005113 "ICD10:A49.9" +MONDO:0005113 "ICD10CM:A30-A49" MONDO:0005113 "SCTID:87628006" MONDO:0005113 "MESH:D001424" MONDO:0003365 "NCIT:C5334" @@ -81329,31 +79317,32 @@ MONDO:0003365 "DOID:5276" MONDO:0003365 "UMLS:C1333454" CL:1000718 "KUPO:0001134" MONDO:0023208 "GARD:0002415" -MONDO:0017897 "ICD10:D84.8" MONDO:0017897 "Orphanet:319535" MONDO:0017897 "UMLS:CN203953" +MONDO:0017897 "ICD10CM:D84.8" HP:0002644 "UMLS:C4020847" MONDO:0010277 "UMLS:C1846145" MONDO:0010277 "GARD:0004119" -MONDO:0010277 "ICD10:Q87.8" MONDO:0010277 "DOID:0060826" MONDO:0010277 "Orphanet:85286" MONDO:0010277 "OMIM:300238" MONDO:0010277 "MESH:C537135" MONDO:0010277 "SCTID:718900002" MONDO:0010277 "UMLS:C4305085" +MONDO:0010277 "ICD10CM:Q87.8" MONDO:0024239 "ICD9:747.89" MONDO:0024239 "SCTID:9904008" MONDO:0024239 "NCIT:C35729" MONDO:0024239 "ICD9:747.9" +MONDO:0024239 "ICD10CM:Q20-Q28" MONDO:0009063 "Orphanet:443988" MONDO:0009063 "DOID:0111625" MONDO:0009063 "OMIM:219730" MONDO:0009063 "UMLS:C1857423" -MONDO:0013329 "ICD10:Q66.8" MONDO:0013329 "Orphanet:238578" MONDO:0013329 "UMLS:C3150880" MONDO:0013329 "OMIM:613618" +MONDO:0013329 "ICD10CM:Q66.8" MONDO:0013329 "Orphanet:199315" MONDO:0000929 "DOID:10044" MONDO:0000929 "UMLS:C0334426" @@ -81363,28 +79352,29 @@ MONDO:0000929 "SCTID:403922007" MONDO:0014887 "OMIM:617052" MONDO:0014887 "UMLS:C4310744" MONDO:0006554 "MESH:D016460" +MONDO:0006554 "ICD10CM:L92.0" MONDO:0006554 "Wikipedia:Granuloma_annulare" MONDO:0006554 "DOID:3777" MONDO:0006554 "EFO:1000704" MONDO:0006554 "SCTID:65508009" MONDO:0006554 "NCIT:C3470" MONDO:0006554 "ICD9:709.8" -MONDO:0006554 "ICD10:L92.0" MONDO:0006554 "GARD:0006546" MONDO:0006554 "UMLS:C0085074" MONDO:0005300 "SCTID:46177005" MONDO:0005300 "MESH:D051436" MONDO:0005300 "SCTID:90688005" +MONDO:0005300 "ICD10CM:N17-N19" MONDO:0005300 "DOID:784" MONDO:0005300 "SCTID:709044004" MONDO:0005300 "MESH:D007676" MONDO:0005300 "EFO:0003884" MONDO:0005300 "NCIT:C80078" +MONDO:0005300 "ICD10CM:N18.9" MONDO:0005300 "ICD9:585" MONDO:0005300 "NCIT:C9438" MONDO:0005300 "UMLS:C0022661" MONDO:0005300 "ICD9:585.6" -MONDO:0005300 "ICD10:N18.9" NCBITaxon:75739 "GC_ID:1" MONDO:0700090 "OMIM:600512" MONDO:0700090 "NCIT:C141441" @@ -81393,8 +79383,8 @@ MONDO:0045017 "UMLS:C0342829" MONDO:0021160 "UMLS:C0473230" MONDO:0021160 "SCTID:197848003" MONDO:0009930 "OMIM:265140" -MONDO:0009930 "ICD10:Q25.7" MONDO:0009930 "MESH:C562404" +MONDO:0009930 "ICD10CM:Q25.7" MONDO:0009930 "GARD:0004584" MONDO:0009930 "UMLS:C0155675" MONDO:0009930 "HP:0006548" @@ -81408,18 +79398,17 @@ MONDO:0024649 "UMLS:C1336971" MONDO:0024649 "NCIT:C7533" CL:0000038 "BTO:0004911" MONDO:0021027 "Orphanet:183450" -MONDO:0017944 "ICD10:A02.9" MONDO:0017944 "Orphanet:324648" -MONDO:0017944 "ICD10:A02.8" -MONDO:0017944 "ICD10:A02.2" -MONDO:0017944 "ICD10:A02.1" -MONDO:0017944 "ICD10:A02.0" +MONDO:0017944 "ICD10CM:A02.1" +MONDO:0017944 "ICD10CM:A02.2" +MONDO:0017944 "ICD10CM:A02.9" +MONDO:0017944 "ICD10CM:A02.8" +MONDO:0017944 "ICD10CM:A02.0" MONDO:0017944 "SCTID:763772002" -MONDO:0019871 "ICD10:Q92.3" MONDO:0019871 "Orphanet:96070" MONDO:0019871 "SCTID:764518004" MONDO:0020353 "Orphanet:98941" -MONDO:0020353 "ICD10:Q13.4" +MONDO:0020353 "ICD10CM:Q13.4" MONDO:0060629 "UMLS:CN737161" MONDO:0060629 "OMIM:617820" MONDO:0012317 "Orphanet:2978" @@ -81444,13 +79433,12 @@ HP:0002090 "MSH:D011014" HP:0002090 "SNOMEDCT_US:233604007" MONDO:0022468 "GARD:0000732" MONDO:0001383 "UMLS:C0154778" -MONDO:0001383 "ICD10:H44.2" MONDO:0001383 "EFO:0004207" MONDO:0001383 "SCTID:32022003" MONDO:0001383 "DOID:11829" +MONDO:0001383 "ICD10CM:H44.2" MONDO:0001383 "MESH:D047728" MONDO:0001383 "ICD9:360.21" -MONDO:0007286 "ICD10:Q12.0" MONDO:0007286 "DOID:0110248" MONDO:0007286 "Orphanet:91492" MONDO:0007286 "MESH:C566157" @@ -81475,32 +79463,32 @@ MONDO:0005294 "EFO:0003875" MONDO:0005294 "NCIT:C35136" MONDO:0005294 "DOID:341" MONDO:0005294 "ICD9:443.81" +MONDO:0017489 "ICD10CM:Q71.5" MONDO:0017489 "Orphanet:295075" -MONDO:0017489 "ICD10:Q71.5" MONDO:0016861 "UMLS:CN202205" +MONDO:0016861 "ICD10CM:Q44.7" MONDO:0016861 "OMIM:118450" MONDO:0016861 "Orphanet:261600" -MONDO:0016861 "ICD10:Q44.7" MONDO:0019580 "SCTID:717259002" -MONDO:0019580 "ICD10:L98.5" +MONDO:0019580 "ICD10CM:L98.5" MONDO:0019580 "UMLS:C4273966" MONDO:0019580 "Orphanet:90395" +MONDO:0043129 "UMLS:C2931499" +MONDO:0043129 "MESH:C537461" +MONDO:0043129 "GARD:0003545" MONDO:0013049 "SCTID:725044000" MONDO:0013049 "OMIM:612937" -MONDO:0013049 "ICD10:E77.8" +MONDO:0013049 "ICD10CM:E77.8" MONDO:0013049 "MESH:C567857" MONDO:0013049 "GARD:0012395" MONDO:0013049 "UMLS:C2752007" MONDO:0013049 "Orphanet:263494" CL:0002083 "FMA:69321" -MONDO:0043129 "UMLS:C2931499" -MONDO:0043129 "MESH:C537461" -MONDO:0043129 "GARD:0003545" MONDO:0008670 "Orphanet:894" MONDO:0008670 "NCIT:C75008" +MONDO:0008670 "ICD10CM:E70.3" MONDO:0008670 "GARD:0005519" MONDO:0008670 "DOID:0110948" -MONDO:0008670 "ICD10:E70.3" MONDO:0008670 "UMLS:C1847800" MONDO:0008670 "Orphanet:3440" MONDO:0008670 "OMIM:193500" @@ -81527,26 +79515,25 @@ MONDO:0007473 "DOID:12557" MONDO:0007473 "OMIM:604356" MONDO:0007473 "OMIM:617041" MONDO:0007473 "MESH:D004370" -MONDO:0007473 "ICD10:H50.8" -MONDO:0007473 "ICD10:H50.81" +MONDO:0007473 "ICD10CM:H50.8" MONDO:0014362 "OMIM:615835" MONDO:0010850 "UMLS:C1838348" MONDO:0010850 "Orphanet:141258" MONDO:0010850 "OMIM:600251" -MONDO:0010850 "ICD10:Q18.8" -MONDO:0016087 "ICD10:Q87.8" +MONDO:0010850 "ICD10CM:Q18.8" MONDO:0016087 "SCTID:719268008" MONDO:0016087 "UMLS:C4304839" MONDO:0016087 "UMLS:CN200850" +MONDO:0016087 "ICD10CM:Q87.8" MONDO:0016087 "Orphanet:2062" MONDO:0013918 "Orphanet:314585" MONDO:0013918 "OMIM:614846" MONDO:0013918 "Orphanet:314588" MONDO:0013918 "UMLS:CN203770" MONDO:0013918 "UMLS:C3553858" -MONDO:0013918 "ICD10:Q99.8" +MONDO:0013918 "ICD10CM:Q99.8" MONDO:0019463 "Orphanet:86861" -MONDO:0019463 "ICD10:D89.8" +MONDO:0019463 "ICD10CM:D89.8" MONDO:0019463 "UMLS:CN206242" MONDO:0019116 "Orphanet:717" MONDO:0019116 "UMLS:CN205637" @@ -81556,20 +79543,16 @@ MONDO:0011267 "OMIM:602685" MONDO:0002972 "ICD9:164.3" MONDO:0002972 "UMLS:C0153502" MONDO:0002972 "SCTID:448670003" -MONDO:0002972 "ICD10:C38.2" MONDO:0002972 "DOID:436" MONDO:0006157 "NCIT:C43589" MONDO:0006157 "UMLS:C1707437" MONDO:0006157 "EFO:1000190" MONDO:0100245 "UMLS:C0024790" MONDO:0100245 "UMLS:C0019050" -MONDO:0100245 "ICD10:D59.1" -MONDO:0100245 "ICD10:D59.6" MONDO:0100245 "MedDRA:10034042" MONDO:0100245 "SCTID:1963002" MONDO:0100245 "DOID:0060284" MONDO:0100245 "Orphanet:447" -MONDO:0100245 "ICD10:D59.5" MONDO:0100245 "NCIT:C61233" MONDO:0100245 "GARD:0007337" MONDO:0100245 "HGNC:8957" @@ -81585,7 +79568,7 @@ MONDO:0014962 "OMIM:617188" MONDO:0030899 "Orphanet:597733" MONDO:0030899 "OMIM:619165" MONDO:0010921 "Orphanet:141103" -MONDO:0010921 "ICD10:Q18.8" +MONDO:0010921 "ICD10CM:Q18.8" MONDO:0010921 "MESH:C563455" MONDO:0010921 "UMLS:C1833473" MONDO:0010921 "OMIM:600679" @@ -81598,11 +79581,11 @@ MONDO:0016660 "OMIM:616681" MONDO:0016660 "OMIM:616486" MONDO:0016660 "OMIM:616402" MONDO:0016660 "OMIM:608393" +MONDO:0016660 "ICD10CM:Q02" MONDO:0016660 "OMIM:615414" MONDO:0016660 "OMIM:614673" MONDO:0016660 "UMLS:C3711387" MONDO:0016660 "OMIM:617090" -MONDO:0016660 "ICD10:Q02" MONDO:0016660 "OMIM:604321" MONDO:0016660 "DOID:0070296" MONDO:0016660 "OMIM:251200" @@ -81614,8 +79597,8 @@ MONDO:0016660 "Orphanet:2512" MONDO:0016660 "OMIM:614852" MONDO:0016660 "OMIM:612703" MONDO:0013782 "Orphanet:757" +MONDO:0013782 "ICD10CM:I15.1" MONDO:0013782 "UMLS:C3469606" -MONDO:0013782 "ICD10:I15.1" MONDO:0013782 "OMIM:614496" MONDO:0013782 "Orphanet:300530" MONDO:0004375 "DOID:783" @@ -81642,9 +79625,7 @@ MONDO:0001186 "GARD:0006260" MONDO:0001186 "SCTID:70764005" MONDO:0010138 "SCTID:90739004" MONDO:0010138 "DOID:7997" -MONDO:0010138 "ICD10:E05.9" MONDO:0010138 "ICD9:242.80" -MONDO:0010138 "OMIM:275000" MONDO:0010138 "ICD9:242" MONDO:0010138 "MESH:D013971" MONDO:0010138 "UMLS:C0040156" @@ -81674,7 +79655,6 @@ MONDO:0012319 "UMLS:C1864994" MONDO:0012319 "OMIM:609633" MONDO:0018479 "OMIM:613571" MONDO:0018479 "SCTID:237751000" -MONDO:0018479 "ICD10:E25.9" MONDO:0018479 "Orphanet:418" MONDO:0018479 "OMIM:201710" MONDO:0018479 "OMIM:202010" @@ -81682,17 +79662,15 @@ MONDO:0018479 "ICD9:255.2" MONDO:0018479 "NCIT:C34360" MONDO:0018479 "GARD:0001467" MONDO:0018479 "DOID:0050811" -MONDO:0018479 "ICD10:E25.0" MONDO:0018479 "MESH:D000312" MONDO:0018479 "UMLS:C0001627" -MONDO:0018479 "ICD10:E25" MONDO:0018479 "OMIM:201910" MONDO:0018479 "UMLS:C0701163" MONDO:0018479 "OMIM:201810" MONDO:0018479 "OMIM:202110" MONDO:0018479 "MedDRA:10010323" MONDO:0017723 "Orphanet:309169" -MONDO:0017723 "ICD10:E75.0" +MONDO:0017723 "ICD10CM:E75.0" MONDO:0017723 "OMIM:268800" MONDO:0017723 "UMLS:CN203619" MONDO:0005614 "DOID:5637" @@ -81701,6 +79679,7 @@ MONDO:0005614 "UMLS:C1335299" MONDO:0005614 "EFO:0006732" MONDO:0005614 "NCIT:C5721" MONDO:0019012 "NCIT:C98873" +MONDO:0019012 "ICD10CM:Q87.0" MONDO:0019012 "DOID:0060234" MONDO:0019012 "OMIMPS:201000" MONDO:0019012 "SCTID:205813009" @@ -81709,7 +79688,6 @@ MONDO:0019012 "OMIM:614976" MONDO:0019012 "GARD:0006003" MONDO:0019012 "UMLS:C1275078" MONDO:0019012 "SCTID:403767009" -MONDO:0019012 "ICD10:Q87.0" MONDO:0019012 "UMLS:CN229565" MONDO:0019012 "OMIM:201000" MONDO:0009356 "OMIM:236400" @@ -81717,24 +79695,25 @@ MONDO:0009356 "Orphanet:3265" MONDO:0002564 "DOID:3218" MONDO:0002564 "NCIT:C8401" MONDO:0002564 "UMLS:C0022374" -MONDO:0002564 "MESH:D007580" MONDO:0002564 "SCTID:126834003" +MONDO:0002564 "MESH:D007580" MONDO:0013195 "OMIM:613243" MONDO:0013195 "DOID:0110319" MONDO:0013195 "MESH:C567686" MONDO:0013195 "UMLS:C2750472" -MONDO:0017077 "ICD10:Q05.7" +MONDO:0017077 "ICD10CM:Q05.7" +MONDO:0017077 "ICD10CM:Q05.2" +MONDO:0017077 "ICD10CM:Q05.1" +MONDO:0017077 "ICD10CM:Q05.9" +MONDO:0017077 "ICD10CM:Q05.5" MONDO:0017077 "Orphanet:268813" -MONDO:0017077 "ICD10:Q05.4" -MONDO:0017077 "ICD10:Q05.0" -MONDO:0017077 "ICD10:Q05.5" -MONDO:0017077 "ICD10:Q05.2" +MONDO:0017077 "ICD10CM:Q05.6" +MONDO:0017077 "ICD10CM:Q05.0" +MONDO:0017077 "ICD10CM:Q05.8" MONDO:0017077 "SCTID:203994003" -MONDO:0017077 "ICD10:Q05.1" -MONDO:0017077 "ICD10:Q05.3" -MONDO:0017077 "ICD10:Q05.8" -MONDO:0017077 "ICD10:Q05.6" -MONDO:0017077 "ICD10:Q05.9" +MONDO:0017077 "ICD10CM:Q05.4" +MONDO:0017077 "ICD10CM:Q05.3" +MONDO:0008262 "ICD10CM:Q79.8" MONDO:0008262 "ICD9:756.89" MONDO:0008262 "SCTID:38371006" MONDO:0008262 "NCIT:C85017" @@ -81745,7 +79724,6 @@ MONDO:0008262 "GARD:0007412" MONDO:0008262 "Orphanet:2911" MONDO:0008262 "DOID:12961" MONDO:0008262 "MedDRA:10036007" -MONDO:0008262 "ICD10:Q79.8" MONDO:0004198 "UMLS:C1515312" MONDO:0004198 "NCIT:C39925" MONDO:0004198 "DOID:7360" @@ -81779,15 +79757,13 @@ MONDO:0004855 "SCTID:67801009" MONDO:0004855 "EFO:1001435" MONDO:0004855 "MESH:D013717" MONDO:0004855 "UMLS:C0039520" +MONDO:0001604 "ICD10CM:H02.2" MONDO:0001604 "DOID:12959" -MONDO:0001604 "ICD10:H02.2" MONDO:0001604 "ICD9:374.2" -MONDO:0001604 "ICD10:H02.20" MONDO:0001604 "ICD9:374.20" MONDO:0001604 "SCTID:60735000" MONDO:0001604 "UMLS:C0152226" MONDO:0009735 "SCTID:312514006" -MONDO:0009735 "ICD10:Q80.8" MONDO:0009735 "SCTID:54336006" MONDO:0009735 "NCIT:C84922" MONDO:0009735 "DOID:0050474" @@ -81795,6 +79771,7 @@ MONDO:0009735 "MESH:D056770" MONDO:0009735 "MedDRA:10062909" MONDO:0009735 "Orphanet:634" MONDO:0009735 "GARD:0007182" +MONDO:0009735 "ICD10CM:Q80.8" MONDO:0009735 "OMIM:256500" MONDO:0005801 "EFO:0007316" MONDO:0005801 "MESH:D015490" @@ -81802,10 +79779,10 @@ MONDO:0005801 "UMLS:C0020097" MONDO:0005801 "GARD:0009645" NCBITaxon:426441 "GC_ID:1" MONDO:0008520 "SCTID:764437006" +MONDO:0008520 "ICD10CM:Q73.8" MONDO:0008520 "Orphanet:1275" MONDO:0008520 "OMIM:186550" MONDO:0008520 "MESH:C566090" -MONDO:0008520 "ICD10:Q73.8" MONDO:0008520 "GARD:0000966" MONDO:0008520 "UMLS:C1861313" MONDO:0002635 "ICD9:523.8" @@ -81814,7 +79791,6 @@ MONDO:0002635 "MESH:D010510" MONDO:0002635 "NCIT:C63743" MONDO:0002635 "DOID:3388" MONDO:0002635 "UMLS:C0031090" -MONDO:0002635 "ICD10:K05.6" MONDO:0012183 "Orphanet:618" MONDO:0012183 "OMIM:609048" MONDO:0022633 "MESH:C537969" @@ -81859,14 +79835,14 @@ MONDO:0011046 "MESH:C537121" MONDO:0011046 "OMIM:601350" MONDO:0011046 "SCTID:719213009" MONDO:0011046 "Orphanet:2867" +MONDO:0011046 "ICD10CM:Q87.1" MONDO:0011046 "GARD:0004838" -MONDO:0011046 "ICD10:Q87.1" MONDO:0003367 "DOID:5280" MONDO:0003367 "SCTID:447785000" MONDO:0003367 "NCIT:C27200" MONDO:0003367 "UMLS:C0744295" MONDO:0003367 "HP:0031025" -MONDO:0024311 "ICD10:C40" +MONDO:0024311 "ICD10CM:C40" MONDO:0003250 "DOID:5039" MONDO:0003250 "UMLS:C0027043" MONDO:0003250 "NCIT:C3252" @@ -81881,9 +79857,8 @@ MONDO:0011432 "Orphanet:293725" MONDO:0001375 "DOID:11813" MONDO:0001375 "SCTID:188239000" MONDO:0001375 "ICD9:188.0" -MONDO:0001375 "ICD10:C67.0" MONDO:0001375 "UMLS:C0496826" -MONDO:0019910 "ICD10:Q99.8" +MONDO:0019910 "ICD10CM:Q99.8" MONDO:0019910 "SCTID:766237006" MONDO:0019910 "Orphanet:96179" MONDO:0023573 "GARD:0000353" @@ -81894,15 +79869,13 @@ MONDO:0004751 "UMLS:C0029182" MONDO:0004751 "ICD9:376" MONDO:0004751 "DOID:930" MONDO:0004751 "ICD9:376.9" -MONDO:0004751 "ICD10:H05.9" -MONDO:0004751 "ICD10:H05" MONDO:0004751 "MESH:D009916" NCBITaxon:40141 "PMID:15371245" NCBITaxon:40141 "PMID:15019624" NCBITaxon:40141 "GC_ID:1" +MONDO:0018713 "ICD10CM:D18.0" MONDO:0018713 "Orphanet:458763" MONDO:0018713 "UMLS:C1304512" -MONDO:0018713 "ICD10:D18.0" MONDO:0018713 "NCIT:C27511" MONDO:0018713 "SCTID:403982005" MONDO:0018713 "UMLS:CN242097" @@ -81917,12 +79890,11 @@ MONDO:0012873 "OMIM:612350" MONDO:0012873 "UMLS:C2676510" MONDO:0012873 "MESH:C567340" MONDO:0012873 "Orphanet:157965" -MONDO:0012873 "ICD10:Q79.6" +MONDO:0012873 "ICD10CM:Q79.6" NCBITaxon:10241 "GC_ID:1" MONDO:0020205 "Orphanet:98617" MONDO:0015544 "UMLS:CN199702" MONDO:0015544 "Orphanet:158057" -MONDO:0009252 "ICD10:E74.1" MONDO:0009252 "MedDRA:10015487" MONDO:0009252 "SCTID:40278002" MONDO:0009252 "MESH:C538068" @@ -81930,13 +79902,13 @@ MONDO:0009252 "UMLS:C0268160" MONDO:0009252 "Orphanet:2056" MONDO:0009252 "DOID:0111680" MONDO:0009252 "OMIM:229800" -MONDO:0009252 "ICD10:E74.11" +MONDO:0009252 "ICD10CM:E74.11" +MONDO:0009252 "ICD10CM:E74.1" +MONDO:0018329 "ICD10CM:G24.1" MONDO:0018329 "Orphanet:391711" -MONDO:0018329 "ICD10:G24.1" MONDO:0002238 "ICD9:153.6" MONDO:0002238 "UMLS:C0153439" MONDO:0002238 "DOID:218" -MONDO:0002238 "ICD10:C18.2" MONDO:0002238 "SCTID:363412000" NCBITaxon:11577 "GC_ID:1" MONDO:0010726 "MESH:D015518" @@ -81951,7 +79923,6 @@ MONDO:0010726 "DOID:1206" MONDO:0010726 "UMLS:C0035372" MONDO:0010726 "NCIT:C75488" MONDO:0010726 "UMLS:C2748910" -MONDO:0010726 "ICD10:F84.2" MONDO:0010726 "MedDRA:10039000" MONDO:0002414 "UMLS:C1333770" MONDO:0002414 "NCIT:C5481" @@ -81961,9 +79932,6 @@ NCBITaxon:436486 "GC_ID:1" MONDO:0044726 "Orphanet:505242" MONDO:0044726 "UMLS:CN353477" MONDO:0044726 "OMIM:617595" -MONDO:0016946 "UMLS:C0265428" -MONDO:0016946 "Orphanet:262767" -MONDO:0016946 "GARD:0005364" MONDO:0009135 "DOID:0111398" MONDO:0009135 "OMIM:224120" MONDO:0009135 "Orphanet:98869" @@ -81972,45 +79940,43 @@ MONDO:0019318 "UMLS:C0473574" MONDO:0019318 "GARD:0005484" MONDO:0019318 "Orphanet:79466" MONDO:0019318 "SCTID:399995006" -MONDO:0019318 "ICD10:Q82.5" -MONDO:0018644 "ICD10:G11.4" +MONDO:0019318 "ICD10CM:Q82.5" MONDO:0018644 "Orphanet:447757" MONDO:0018644 "UMLS:CN237702" +MONDO:0018644 "ICD10CM:G11.4" MONDO:0009525 "Orphanet:2440" MONDO:0009525 "DOID:0090025" MONDO:0009525 "UMLS:C0265554" MONDO:0009525 "Orphanet:1307" -MONDO:0009525 "ICD10:Q92.3" -MONDO:0009525 "ICD10:Q71.6" MONDO:0009525 "NCIT:C75121" MONDO:0009525 "SCTID:722429003" MONDO:0009525 "OMIM:246560" MONDO:0009525 "MESH:C565437" MONDO:0009525 "GARD:0003252" +MONDO:0011790 "ICD10CM:Q02" MONDO:0011790 "GARD:0008606" MONDO:0011790 "MESH:C538247" MONDO:0011790 "Orphanet:99742" MONDO:0011790 "OMIM:607196" MONDO:0011790 "SCTID:702437000" -MONDO:0011790 "ICD10:Q02" MONDO:0011790 "UMLS:C1846648" MONDO:0000456 "OMIMPS:300352" MONDO:0000456 "UMLS:CN227588" +MONDO:0000456 "ICD10CM:E72.8" MONDO:0000456 "DOID:0050798" -MONDO:0000456 "ICD10:E72.8" MONDO:0000456 "Orphanet:79172" MONDO:0006359 "MESH:D054973" -MONDO:0006359 "ICD10:D21.9" MONDO:0006359 "Orphanet:595133" MONDO:0006359 "ONCOTREE:PECOMA" +MONDO:0006359 "ICD10CM:D21.9" MONDO:0006359 "UMLS:C1300127" MONDO:0006359 "EFO:1000464" MONDO:0006359 "DOID:2643" MONDO:0006359 "NCIT:C38150" MONDO:0020845 "DOID:0111524" MONDO:0020845 "OMIM:618098" +MONDO:0021400 "ICD10CM:K63.5" MONDO:0021400 "SCTID:68496003" -MONDO:0021400 "ICD10:K63.5" MONDO:0021400 "NCIT:C2954" MONDO:0021400 "MESH:D003111" MONDO:0004367 "DOID:7818" @@ -82019,19 +79985,19 @@ MONDO:0004367 "UMLS:C1335395" MONDO:0019676 "Orphanet:93383" MONDO:0019676 "OMIM:113000" MONDO:0019676 "SCTID:389168002" -MONDO:0019676 "ICD10:Q73.8" MONDO:0019676 "UMLS:C1300267" MONDO:0019676 "GARD:0000985" +MONDO:0019676 "ICD10CM:Q73.8" MONDO:0017242 "GARD:0012428" MONDO:0017242 "SCTID:718634003" MONDO:0017242 "Orphanet:280779" MONDO:0017242 "UMLS:C4305323" MONDO:0008123 "Orphanet:2733" MONDO:0008123 "OMIM:164745" +MONDO:0008123 "ICD10CM:Q78.8" MONDO:0008123 "GARD:0003643" MONDO:0008123 "MESH:C567664" MONDO:0008123 "Orphanet:93328" -MONDO:0008123 "ICD10:Q78.8" MONDO:0008123 "SCTID:725165009" MONDO:0033946 "Orphanet:528623" MONDO:0033946 "UMLS:C1862892" @@ -82041,7 +80007,6 @@ MONDO:0033946 "UMLS:C0019243" MONDO:0033946 "Orphanet:100050" MONDO:0033946 "OMIM:106100" MONDO:0002083 "DOID:1703" -MONDO:0002083 "ICD10:C91.1" MONDO:0002083 "SCTID:277550009" MONDO:0002083 "NCIT:C35424" MONDO:0002083 "GARD:0007578" @@ -82064,6 +80029,7 @@ MONDO:0024619 "ICD9:349.89" MONDO:0024619 "NCIT:C27582" MONDO:0024619 "SCTID:128117002" MONDO:0024619 "EFO:1001456" +MONDO:0024619 "ICD10CM:A80-A89" MONDO:0003007 "UMLS:C1333001" MONDO:0003007 "DOID:4454" MONDO:0003007 "NCIT:C6568" @@ -82076,7 +80042,7 @@ CL:0000656 "BTO:0001115" CL:0000656 "CALOHA:TS-2194" CL:0000656 "FMA:72292" NCBITaxon:6960 "GC_ID:1" -MONDO:0018991 "ICD10:K74.1" +MONDO:0018991 "ICD10CM:K74.1" MONDO:0018991 "SCTID:718096004" MONDO:0018991 "UMLS:C4273756" MONDO:0018991 "Orphanet:64743" @@ -82098,29 +80064,29 @@ MONDO:0007987 "DOID:0080045" MONDO:0007987 "UMLS:C0265279" MONDO:0007987 "Orphanet:485" MONDO:0007987 "ICD9:756.9" -MONDO:0007987 "ICD10:Q77.7" +MONDO:0007987 "ICD10CM:Q77.7" MONDO:0007987 "GARD:0006841" PO:0006079 "PO_GIT:583" PO:0006079 "PO_GIT:472" -MONDO:0021394 "ICD10:N84.2" MONDO:0021394 "UMLS:C0156390" MONDO:0021394 "SCTID:29609001" MONDO:0021394 "ICD9:623.7" +MONDO:0021394 "ICD10CM:N84.2" MONDO:0021394 "NCIT:C3664" MONDO:0001225 "SCTID:5602001" MONDO:0001225 "DOID:11206" MONDO:0001225 "ICD9:305.5" -MONDO:0001225 "ICD10:F11.1" MONDO:0006839 "EFO:1001024" MONDO:0006839 "SCTID:204319006" MONDO:0006839 "MESH:D008185" MONDO:0006839 "DOID:1998" MONDO:0006839 "UMLS:C0024164" MONDO:0021223 "EFO:0008549" +MONDO:0021223 "ICD10CM:C15-C26" MONDO:0021223 "NCIT:C3052" MONDO:0021223 "MESH:D005770" MONDO:0016534 "Orphanet:238305" -MONDO:0016534 "ICD10:E23.6" +MONDO:0016534 "ICD10CM:E23.6" MONDO:0006041 "UMLS:C0280089" MONDO:0006041 "ONCOTREE:LUCA" MONDO:0006041 "SCTID:254627002" @@ -82131,27 +80097,26 @@ MONDO:0020197 "Orphanet:98609" MONDO:0054838 "OMIM:618052" MONDO:0054838 "UMLS:CN252335" MONDO:0011211 "UMLS:C1865695" +MONDO:0011211 "ICD10CM:Q77.8" MONDO:0011211 "Orphanet:168549" MONDO:0011211 "MESH:C535795" MONDO:0011211 "GARD:0008720" -MONDO:0011211 "ICD10:Q77.8" MONDO:0011211 "OMIM:602271" MONDO:0014167 "OMIM:615400" MONDO:0014167 "Orphanet:86814" MONDO:0014167 "UMLS:C3809374" MONDO:0014167 "DOID:0111691" -MONDO:0014434 "ICD10:Q87.89" MONDO:0014434 "UMLS:C3892039" MONDO:0014434 "OMIM:615983" MONDO:0014434 "GARD:0010204" MONDO:0014434 "OMIM:209900" MONDO:0014434 "EFO:0009025" MONDO:0014434 "DOID:0110127" +MONDO:0018182 "ICD10CM:L01.0" MONDO:0018182 "MedDRA:10006563" MONDO:0018182 "SCTID:399183005" -MONDO:0018182 "ICD10:L01.03" MONDO:0018182 "Orphanet:36237" -MONDO:0018182 "ICD10:L01.0" +MONDO:0018182 "ICD10CM:L01.03" MONDO:0018182 "UMLS:C0021100" MONDO:0030914 "OMIM:617752" MONDO:0030914 "UMLS:C2931130" @@ -82161,12 +80126,12 @@ MONDO:0030914 "UMLS:CN593636" MONDO:0030914 "DOID:0080234" MONDO:0030914 "MESH:C536208" MONDO:0017936 "Orphanet:324581" -MONDO:0017936 "ICD10:G71.2" +MONDO:0017936 "ICD10CM:G71.2" MONDO:0001540 "ICD9:495.1" MONDO:0001540 "DOID:12522" MONDO:0001540 "NCIT:C34409" MONDO:0001540 "UMLS:C0004681" -MONDO:0001540 "ICD10:J67.1" +MONDO:0001540 "ICD10CM:J67.1" MONDO:0001540 "SCTID:67242002" MONDO:0003740 "UMLS:C0853870" MONDO:0003740 "DOID:603" @@ -82174,35 +80139,35 @@ MONDO:0003740 "EFO:1001873" MONDO:0003740 "NCIT:C35614" MONDO:0007482 "OMIM:127350" MONDO:0007482 "Orphanet:1765" -MONDO:0007482 "ICD10:Q87.8" MONDO:0007482 "UMLS:C1851986" MONDO:0007482 "MESH:C565080" MONDO:0007482 "GARD:0001994" +MONDO:0007482 "ICD10CM:Q87.8" MONDO:0008813 "GARD:0000017" MONDO:0008813 "Orphanet:2356" MONDO:0008813 "UMLS:C0078981" MONDO:0008813 "MESH:D016080" -MONDO:0008813 "ICD10:G93.0" MONDO:0008813 "SCTID:33595009" MONDO:0008813 "OMIM:182990" MONDO:0008813 "NCIT:C3455" +MONDO:0008813 "ICD10CM:G93.0" MONDO:0008813 "MedDRA:10049005" MONDO:0012652 "GARD:0012536" -MONDO:0012652 "ICD10:G71.0" +MONDO:0012652 "ICD10CM:G71.0" MONDO:0012652 "DOID:0110284" MONDO:0012652 "MESH:C566968" MONDO:0012652 "Orphanet:206549" MONDO:0012652 "OMIM:611307" MONDO:0012652 "UMLS:C1969785" MONDO:0030045 "OMIM:618889" -MONDO:0002981 "DOID:4388" -MONDO:0002981 "UMLS:C0855009" -MONDO:0002981 "NCIT:C8776" MONDO:0019108 "SCTID:699802009" MONDO:0019108 "Orphanet:71276" MONDO:0019108 "UMLS:C3698095" MONDO:0019108 "ICD9:478.19" -MONDO:0010305 "ICD10:E72.8" +MONDO:0002981 "DOID:4388" +MONDO:0002981 "UMLS:C0855009" +MONDO:0002981 "NCIT:C8776" +MONDO:0010305 "ICD10CM:E72.8" MONDO:0010305 "NCIT:C125665" MONDO:0010305 "DOID:0050800" MONDO:0010305 "ICD9:758.81" @@ -82213,11 +80178,11 @@ MONDO:0010305 "Orphanet:52503" MONDO:0010305 "OMIM:300352" MONDO:0017021 "Orphanet:264704" MONDO:0017021 "UMLS:CN202334" -MONDO:0008429 "ICD10:Q78.8" MONDO:0008429 "Orphanet:85191" MONDO:0008429 "OMIM:616298" MONDO:0008429 "MESH:C537343" MONDO:0008429 "UMLS:C0432254" +MONDO:0008429 "ICD10CM:Q78.8" MONDO:0008429 "GARD:0000122" MONDO:0008429 "SCTID:254114000" MONDO:0008429 "OMIMPS:182250" @@ -82233,18 +80198,18 @@ MONDO:0010694 "MESH:C564088" MONDO:0010694 "OMIM:310800" MONDO:0011640 "SCTID:702367005" MONDO:0011640 "ICD9:759.89" -MONDO:0011640 "ICD10:Q87.8" MONDO:0011640 "OMIM:606170" MONDO:0011640 "Orphanet:85201" +MONDO:0011640 "ICD10CM:Q87.8" MONDO:0011640 "GARD:0010994" MONDO:0011640 "UMLS:C1853566" MONDO:0011640 "MESH:C565255" NCBITaxon:70999 "GC_ID:1" MONDO:0044655 "Orphanet:497623" -MONDO:0019620 "ICD10:Q39.6" MONDO:0019620 "Orphanet:91358" MONDO:0019620 "ICD9:750.4" MONDO:0019620 "SCTID:204667006" +MONDO:0019620 "ICD10CM:Q39.6" MONDO:0007989 "OMIM:156600" MONDO:0007989 "Orphanet:566" MONDO:0007989 "MESH:C537550" @@ -82260,10 +80225,10 @@ MONDO:0015063 "Orphanet:100076" MONDO:0015063 "UMLS:CN197356" MONDO:0015063 "NCIT:C135080" MONDO:0007872 "OMIM:149730" -MONDO:0007872 "ICD10:Q87.8" MONDO:0007872 "UMLS:C0265269" MONDO:0007872 "ICD9:759.89" MONDO:0007872 "Orphanet:2363" +MONDO:0007872 "ICD10CM:Q87.8" MONDO:0007872 "GARD:0006848" MONDO:0007872 "MESH:C538132" MONDO:0007872 "DOID:0050331" @@ -82274,8 +80239,8 @@ MONDO:0019526 "UMLS:C0263398" MONDO:0019526 "MedDRA:10056968" MONDO:0019526 "Orphanet:90000" MONDO:0019526 "DOID:0060567" -MONDO:0019526 "ICD10:L95.1" MONDO:0019526 "MESH:C535509" +MONDO:0019526 "ICD10CM:L95.1" MONDO:0019526 "ICD9:695.89" NCBITaxon:186540 "GC_ID:1" MONDO:0008616 "OMIM:191250" @@ -82283,18 +80248,18 @@ MONDO:0008616 "MESH:C566018" MONDO:0014857 "Orphanet:494344" MONDO:0014857 "UMLS:C4310772" MONDO:0014857 "OMIM:616975" -MONDO:0010881 "ICD10:Q74.8" MONDO:0010881 "GARD:0004302" MONDO:0010881 "OMIM:600383" MONDO:0010881 "SCTID:724147004" MONDO:0010881 "UMLS:C1838162" +MONDO:0010881 "ICD10CM:Q74.8" MONDO:0010881 "MESH:C537348" MONDO:0010881 "Orphanet:2496" HP:0000622 "SNOMEDCT_US:111516008" HP:0000622 "SNOMEDCT_US:246636008" HP:0000622 "UMLS:C0344232" MONDO:0010193 "OMIM:277590" -MONDO:0010193 "ICD10:Q87.3" +MONDO:0010193 "ICD10CM:Q87.3" MONDO:0010193 "GARD:0007878" MONDO:0010193 "UMLS:CN036342" MONDO:0010193 "ICD9:759.89" @@ -82309,22 +80274,22 @@ MONDO:0010193 "GTR:AN0102079" HP:0012503 "MSH:D010900" HP:0012503 "SNOMEDCT_US:399244003" HP:0012503 "UMLS:C0032002" +MONDO:0017528 "ICD10CM:Q69.0" MONDO:0017528 "Orphanet:295154" -MONDO:0017528 "ICD10:Q69.0" MONDO:0017528 "UMLS:CN203259" MONDO:0017411 "Orphanet:294023" MONDO:0017411 "OMIM:616069" MONDO:0017411 "OMIMPS:614328" MONDO:0017411 "UMLS:CN228266" MONDO:0017411 "OMIM:614328" -MONDO:0015250 "ICD10:G12.2" MONDO:0015250 "MESH:C535625" MONDO:0015250 "UMLS:C2930956" MONDO:0015250 "Orphanet:1217" MONDO:0015250 "GARD:0004942" -MONDO:0019841 "Orphanet:95611" -MONDO:0019841 "ICD10:E23.0" +MONDO:0015250 "ICD10CM:G12.2" CL:1001577 "CALOHA:TS-1253" +MONDO:0019841 "Orphanet:95611" +MONDO:0019841 "ICD10CM:E23.0" MONDO:0013455 "OMIM:613838" MONDO:0013455 "DOID:0110322" MONDO:0013455 "UMLS:C3151204" @@ -82335,11 +80300,11 @@ MONDO:0014401 "OMIM:615923" MONDO:0002629 "NCIT:C53707" MONDO:0002629 "Orphanet:668" MONDO:0002629 "GARD:0007284" -MONDO:0002629 "ICD10:C41.9" MONDO:0002629 "SCTID:307576001" MONDO:0002629 "DOID:3376" MONDO:0002629 "MESH:D012516" MONDO:0002629 "OMIM:259500" +MONDO:0002629 "ICD10CM:C41.9" MONDO:0002629 "ICD9:170.9" MONDO:0002629 "MedDRA:10031291" MONDO:0002120 "NCIT:C3773" @@ -82350,21 +80315,20 @@ MONDO:0002120 "DOID:1800" MONDO:0002120 "ICDO:8246/3" MONDO:0019819 "ICD9:746.89" MONDO:0019819 "Orphanet:95474" +MONDO:0019819 "ICD10CM:Q23.8" MONDO:0019819 "SCTID:253402005" -MONDO:0019819 "ICD10:Q23.8" MONDO:0020141 "UMLS:CN207022" MONDO:0020141 "Orphanet:98542" MONDO:0016769 "SCTID:44509000" MONDO:0016769 "GARD:0011898" MONDO:0016769 "Orphanet:254379" MONDO:0016769 "UMLS:C0023650" -MONDO:0016769 "ICD10:L43.8" +MONDO:0016769 "ICD10CM:L43.8" MONDO:0018969 "GARD:0010504" MONDO:0018969 "SCTID:32219008" MONDO:0018969 "NCIT:C98907" MONDO:0018969 "HP:0030770" MONDO:0018969 "Orphanet:63260" -MONDO:0018969 "ICD10:Q00.1" MONDO:0018969 "MedDRA:10011321" MONDO:0018969 "ICD9:740.1" MONDO:0018969 "UMLS:C0152426" @@ -82377,30 +80341,30 @@ MONDO:0005606 "EFO:0006500" MONDO:0016652 "SCTID:716387004" MONDO:0016652 "Orphanet:251014" MONDO:0016652 "UMLS:CN201880" -MONDO:0016652 "ICD10:Q93.5" +MONDO:0016652 "ICD10CM:Q93.5" MONDO:0016652 "UMLS:C4274647" MONDO:0018852 "DOID:13911" MONDO:0018852 "OMIM:262300" MONDO:0018852 "OMIM:616517" -MONDO:0018852 "ICD10:H53.51" MONDO:0018852 "ICD9:368.54" MONDO:0018852 "OMIM:216900" MONDO:0018852 "OMIM:610024" -MONDO:0018852 "ICD10:H53.5" MONDO:0018852 "MedDRA:10000454" MONDO:0018852 "OMIM:613856" MONDO:0018852 "OMIM:613093" MONDO:0018852 "UMLS:C0152200" MONDO:0018852 "Orphanet:49382" MONDO:0018852 "SCTID:102450007" +MONDO:0018852 "ICD10CM:H53.5" +MONDO:0018852 "ICD10CM:H53.51" MONDO:0018852 "NCIT:C84528" MONDO:0003693 "UMLS:C1377853" MONDO:0003693 "DOID:5895" MONDO:0003693 "NCIT:C8988" MONDO:0000938 "DOID:10087" MONDO:0000938 "NCIT:C3876" -MONDO:0000938 "UMLS:C0238440" MONDO:0000938 "SCTID:276812001" +MONDO:0000938 "UMLS:C0238440" MONDO:0000448 "ICDO:8680/1" MONDO:0000448 "OMIM:605373" MONDO:0000448 "OMIM:601650" @@ -82422,13 +80386,12 @@ MONDO:0004204 "UMLS:C0345983" MONDO:0004204 "SCTID:254661000" MONDO:0004204 "NCIT:C4462" MONDO:0004204 "DOID:7380" -MONDO:0027462 "ICD10:Q82.8" MONDO:0027462 "DOID:0070140" MONDO:0027462 "Orphanet:357074" MONDO:0027462 "OMIM:617402" CL:0000351 "FMA:83028" -MONDO:0020362 "ICD10:Q07.8" MONDO:0020362 "UMLS:CN207213" +MONDO:0020362 "ICD10CM:Q07.8" MONDO:0020362 "Orphanet:98951" HP:0004340 "UMLS:C4021659" MONDO:0010473 "OMIM:300886" @@ -82439,7 +80402,6 @@ NCBITaxon:5550 "GC_ID:1" MONDO:0005829 "ICD9:063.1" MONDO:0005829 "EFO:0007348" MONDO:0005829 "UMLS:C0024025" -MONDO:0005829 "ICD10:A84.8" MONDO:0005829 "DOID:10250" MONDO:0005829 "MESH:D008146" MONDO:0001889 "SCTID:37102008" @@ -82447,26 +80409,26 @@ MONDO:0001889 "ICD9:256.39" MONDO:0001889 "ICD9:256.9" MONDO:0001889 "NCIT:C113351" MONDO:0001889 "ICD9:256.3" -MONDO:0001889 "ICD10:E28" +MONDO:0001889 "ICD10CM:E28" MONDO:0001889 "DOID:1414" MONDO:0001889 "EFO:0009003" MONDO:0001889 "ICD9:256.8" NCBITaxon:1257 "PMID:11491354" NCBITaxon:1257 "GC_ID:11" -MONDO:0009348 "ICD10:C81.4" -MONDO:0009348 "Orphanet:391" -MONDO:0009348 "ICD10:C81.7" +MONDO:0009348 "ICD10CM:C81.9" MONDO:0009348 "ONCOTREE:CHL" -MONDO:0009348 "ICD10:C81.2" +MONDO:0009348 "UMLS:CN204952" MONDO:0009348 "NCIT:C7164" MONDO:0009348 "OMIM:236000" -MONDO:0009348 "ICD10:C81.0" +MONDO:0009348 "ICD10CM:C81.3" +MONDO:0009348 "ICD10CM:C81.0" +MONDO:0009348 "ICD10CM:C81.2" +MONDO:0009348 "ICD10CM:C81.4" +MONDO:0009348 "Orphanet:391" +MONDO:0009348 "ICD10CM:C81.1" +MONDO:0009348 "ICD10CM:C81.7" MONDO:0009348 "OMIM:400021" -MONDO:0009348 "ICD10:C81.3" -MONDO:0009348 "UMLS:CN204952" MONDO:0009348 "OMIM:300221" -MONDO:0009348 "ICD10:C81.9" -MONDO:0009348 "ICD10:C81.1" MONDO:0007261 "OMIM:114700" MONDO:0007261 "MESH:C566175" MONDO:0007261 "UMLS:C1861897" @@ -82476,20 +80438,19 @@ MONDO:0007651 "GARD:0002438" MONDO:0007651 "Orphanet:2069" MONDO:0007651 "OMIM:137270" MONDO:0011935 "DOID:0110406" -MONDO:0011935 "ICD10:H35.5" MONDO:0011935 "OMIM:607921" MONDO:0011935 "GARD:0010401" MONDO:0011935 "UMLS:C1842816" MONDO:0019715 "Orphanet:93459" MONDO:0019715 "UMLS:CN206620" -MONDO:0011055 "ICD10:Q93.5" -MONDO:0011055 "UMLS:C1832431" +MONDO:0011055 "SCTID:719686003" +MONDO:0011055 "MESH:C563337" MONDO:0011055 "UMLS:C4304502" +MONDO:0011055 "OMIM:601362" +MONDO:0011055 "UMLS:C1832431" MONDO:0011055 "GARD:0001323" MONDO:0011055 "Orphanet:1580" -MONDO:0011055 "MESH:C563337" -MONDO:0011055 "OMIM:601362" -MONDO:0011055 "SCTID:719686003" +MONDO:0011055 "ICD10CM:Q93.5" MONDO:0011055 "NCIT:C130982" MONDO:0002122 "SCTID:128192007" MONDO:0002122 "ICD9:729.2" @@ -82500,6 +80461,7 @@ MONDO:0002122 "DOID:1803" MONDO:0002122 "SCTID:84299009" MONDO:0033654 "OMIM:619063" MONDO:0016244 "NCIT:C123223" +MONDO:0016244 "ICD10CM:D58.8" MONDO:0016244 "OMIM:612924" MONDO:0016244 "GARD:0006240" MONDO:0016244 "OMIM:612926" @@ -82507,7 +80469,6 @@ MONDO:0016244 "OMIM:612923" MONDO:0016244 "OMIM:609814" MONDO:0016244 "OMIM:612925" MONDO:0016244 "UMLS:C2931788" -MONDO:0016244 "ICD10:D58.8" MONDO:0016244 "GARD:0008702" MONDO:0016244 "Orphanet:2134" MONDO:0016244 "MESH:D065766" @@ -82535,22 +80496,22 @@ MONDO:0024648 "UMLS:C1336972" MONDO:0003563 "DOID:5641" MONDO:0003563 "UMLS:C0865849" MONDO:0003563 "NCIT:C27216" -MONDO:0044257 "OMIM:247420" MONDO:0032642 "Orphanet:565858" MONDO:0032642 "OMIM:618265" +MONDO:0044257 "OMIM:247420" MONDO:0005490 "EFO:0005524" HP:0100267 "UMLS:C0341059" MONDO:0015609 "OMIM:616882" MONDO:0015609 "DOID:0050628" -MONDO:0015609 "SCTID:715829003" +MONDO:0015609 "ICD10CM:G47.2" MONDO:0015609 "Orphanet:164736" -MONDO:0015609 "ICD10:G47.2" +MONDO:0015609 "SCTID:715829003" MONDO:0015609 "OMIMPS:604348" MONDO:0015609 "GARD:0009242" MONDO:0015609 "OMIM:615224" MONDO:0015609 "OMIM:604348" MONDO:0014636 "DOID:0111468" -MONDO:0014636 "ICD10:E88.8" +MONDO:0014636 "ICD10CM:E88.8" MONDO:0014636 "EFO:0009035" MONDO:0014636 "UMLS:C4225329" MONDO:0014636 "OMIM:616430" @@ -82562,11 +80523,11 @@ MONDO:0013245 "Orphanet:228426" MONDO:0013245 "GARD:0010775" MONDO:0012222 "Orphanet:3137" MONDO:0012222 "GARD:0009161" -MONDO:0012222 "ICD10:E77.1" MONDO:0012222 "UMLS:C1836522" MONDO:0012222 "Orphanet:79280" +MONDO:0012222 "ICD10CM:E77.1" MONDO:0012222 "OMIM:609242" -MONDO:0018384 "ICD10:M93.9" +MONDO:0018384 "ICD10CM:M93.9" MONDO:0018384 "Orphanet:399388" MONDO:0021479 "NCIT:C4604" MONDO:0021479 "ICD9:210.6" @@ -82586,7 +80547,7 @@ MONDO:0011463 "Orphanet:538096" MONDO:0011463 "MESH:C565773" MONDO:0011463 "OMIM:604431" MONDO:0018267 "Orphanet:370114" -MONDO:0018267 "ICD10:G24.3" +MONDO:0018267 "ICD10CM:G24.3" MONDO:0005608 "ICD9:052.7" MONDO:0005608 "EFO:0006509" MONDO:0005608 "SCTID:309465005" @@ -82595,8 +80556,8 @@ MONDO:0005608 "UMLS:C0586989" MONDO:0015701 "UMLS:C1837028" MONDO:0015701 "OMIM:608971" MONDO:0015701 "DOID:0060015" -MONDO:0015701 "ICD10:D81.2" MONDO:0015701 "Orphanet:169154" +MONDO:0015701 "ICD10CM:D81.2" MONDO:0004439 "DOID:8030" MONDO:0004439 "UMLS:C1335383" MONDO:0004439 "NCIT:C6777" @@ -82609,7 +80570,7 @@ MONDO:0005997 "EFO:0007525" MONDO:0005997 "DOID:4078" MONDO:0017047 "GARD:0002996" MONDO:0017047 "Orphanet:2679" -MONDO:0017047 "ICD10:G60.8" +MONDO:0017047 "ICD10CM:G60.8" MONDO:0003953 "DOID:6639" MONDO:0003953 "NCIT:C6206" MONDO:0003953 "UMLS:C1377604" @@ -82620,18 +80581,18 @@ MONDO:0005114 "ICD9:041.2" MONDO:0005114 "EFO:0000772" MONDO:0005114 "MESH:D011008" MONDO:0012865 "MESH:C563016" -MONDO:0012865 "ICD10:L73.1" +MONDO:0012865 "ICD10CM:L73.1" MONDO:0012865 "OMIM:612318" MONDO:0012865 "UMLS:C0549150" MONDO:0015055 "UMLS:CN197347" +MONDO:0015055 "ICD10CM:T78.3" MONDO:0015055 "Orphanet:100055" -MONDO:0015055 "ICD10:T78.3" MONDO:0700038 "MESH:D057177" MONDO:0700038 "UMLS:C2718017" MONDO:0011738 "UMLS:C1847352" MONDO:0011738 "OMIM:606854" MONDO:0011738 "NCIT:C148367" -MONDO:0011738 "ICD10:Q04.3" +MONDO:0011738 "ICD10CM:Q04.3" MONDO:0011738 "GARD:0010784" MONDO:0011738 "Orphanet:101070" MONDO:0011738 "Orphanet:268940" @@ -82648,7 +80609,7 @@ MONDO:0018488 "UMLS:CN237489" MONDO:0018488 "Orphanet:420755" MONDO:0017234 "UMLS:CN202725" MONDO:0017234 "Orphanet:280400" -MONDO:0017234 "ICD10:A81.8" +MONDO:0017234 "ICD10CM:A81.8" MONDO:0015922 "Orphanet:182083" MONDO:0006555 "UMLS:C0743086" MONDO:0006555 "EFO:1000705" @@ -82665,28 +80626,25 @@ MONDO:0005301 "MESH:D009103" MONDO:0005301 "Orphanet:802" MONDO:0005301 "EFO:0003885" MONDO:0005301 "OMIM:612595" -MONDO:0005301 "ICD10:G35" MONDO:0005301 "OMIM:614810" MONDO:0005301 "SCTID:24700007" +MONDO:0005301 "ICD10CM:G35" MONDO:0100467 "OMIM:189800" MONDO:0014111 "UMLS:C3809004" -MONDO:0014111 "ICD10:Q12.0" MONDO:0014111 "DOID:0110263" MONDO:0014111 "Orphanet:91492" MONDO:0014111 "OMIM:615277" MONDO:0014111 "Orphanet:98984" -MONDO:0016496 "ICD10:G61.0" MONDO:0016496 "Orphanet:231426" +MONDO:0016496 "ICD10CM:G61.0" MONDO:0016496 "UMLS:CN201499" MONDO:0021028 "Orphanet:183454" MONDO:0019872 "SCTID:764519007" MONDO:0019872 "Orphanet:96071" -MONDO:0019872 "ICD10:Q92.3" MONDO:0014560 "DOID:0110065" MONDO:0014560 "UMLS:C4225394" MONDO:0014560 "Orphanet:100031" MONDO:0014560 "OMIM:616270" -MONDO:0014560 "ICD10:K00.5" MONDO:0003366 "MESH:D006833" MONDO:0003366 "DOID:528" MONDO:0003366 "ICD9:719.08" @@ -82695,16 +80653,16 @@ MONDO:0003366 "ICD9:719.00" MONDO:0010920 "MESH:C537772" MONDO:0010920 "MESH:D065817" MONDO:0010920 "ICD9:744.23" -MONDO:0010920 "ICD10:Q17.2" MONDO:0010920 "Orphanet:83463" MONDO:0010920 "SCTID:35045004" MONDO:0010920 "OMIM:128800" MONDO:0010920 "OMIM:600674" +MONDO:0010920 "ICD10CM:Q17.2" MONDO:0010920 "GARD:0000431" MONDO:0010920 "MedDRA:10027555" MONDO:0010920 "Orphanet:93976" MONDO:0018675 "Orphanet:449563" -MONDO:0018675 "ICD10:H05.1" +MONDO:0018675 "ICD10CM:H05.1" MONDO:0018675 "UMLS:CN237741" MONDO:0014239 "Orphanet:251510" MONDO:0014239 "OMIM:615542" @@ -82713,20 +80671,19 @@ MONDO:0006742 "MedDRA:10068848" MONDO:0006742 "NCIT:C35023" MONDO:0006742 "SCTID:56805008" MONDO:0006742 "MESH:D006043" -MONDO:0006742 "ICD10:E01.2" MONDO:0006742 "DOID:13198" MONDO:0006742 "ICD9:240.0" -MONDO:0006742 "ICD10:E01.0" MONDO:0006742 "EFO:1000916" MONDO:0023209 "MESH:C535402" MONDO:0023209 "GARD:0008400" MONDO:0016504 "SCTID:715868005" +MONDO:0016504 "ICD10CM:E26.0" MONDO:0016504 "Orphanet:231580" -MONDO:0016504 "ICD10:E26.0" MONDO:0016504 "UMLS:C4274967" +MONDO:0020167 "ICD10CM:Q10.3" MONDO:0020167 "Orphanet:98576" -MONDO:0020167 "ICD10:Q10.3" MONDO:0010278 "SCTID:702354007" +MONDO:0010278 "ICD10CM:Q87.8" MONDO:0010278 "DOID:0060825" MONDO:0010278 "ICD9:759.89" MONDO:0010278 "UMLS:C2678194" @@ -82734,17 +80691,16 @@ MONDO:0010278 "MESH:C567484" MONDO:0010278 "OMIM:300243" MONDO:0010278 "Orphanet:85278" MONDO:0010278 "GARD:0010572" -MONDO:0010278 "ICD10:Q87.8" MONDO:0023543 "GARD:0003081" MONDO:0023543 "MESH:C537012" MONDO:0023543 "UMLS:C2931394" MONDO:0008618 "MESH:C537349" MONDO:0008618 "GARD:0003555" MONDO:0008618 "SCTID:715472000" +MONDO:0008618 "ICD10CM:Q78.8" MONDO:0008618 "OMIM:191400" MONDO:0008618 "Orphanet:2634" MONDO:0008618 "UMLS:C1860616" -MONDO:0008618 "ICD10:Q78.8" MONDO:0012457 "UMLS:C1853228" MONDO:0012457 "OMIM:610260" MONDO:0012457 "MESH:C565208" @@ -82752,41 +80708,41 @@ MONDO:0045018 "SCTID:297226004" MONDO:0045018 "UMLS:C0574079" NCBITaxon:2752537 "GC_ID:1" MONDO:0009931 "Orphanet:1208" -MONDO:0009931 "ICD10:Q22.6" MONDO:0009931 "NCIT:C99032" MONDO:0009931 "UMLS:C0344975" MONDO:0009931 "SCTID:253590009" MONDO:0009931 "OMIM:265150" MONDO:0009931 "MESH:C562832" MONDO:0009931 "GARD:0004600" +MONDO:0009931 "ICD10CM:Q22.6" NCBITaxon:445 "PMID:9734026" NCBITaxon:445 "PMID:16166707" NCBITaxon:445 "PMID:8573522" NCBITaxon:445 "GC_ID:11" NCBITaxon:445 "PMID:434652" -MONDO:0016862 "ICD10:Q44.7" MONDO:0016862 "UMLS:CN202206" MONDO:0016862 "UMLS:C1956125" MONDO:0016862 "Orphanet:261619" +MONDO:0016862 "ICD10CM:Q44.7" MONDO:0016862 "OMIM:118450" MONDO:0017945 "Orphanet:324703" -MONDO:0017945 "ICD10:E85.4+" -MONDO:0017945 "ICD10:I68.0*" +MONDO:0017945 "ICD10EXP:I68.0*" +MONDO:0017945 "ICD10EXP:E85.4+" MONDO:0017945 "OMIM:605714" MONDO:0020354 "OMIM:120200" MONDO:0020354 "Orphanet:98942" MONDO:0020354 "GARD:0001432" -MONDO:0020354 "ICD10:Q14.8" +MONDO:0020354 "ICD10CM:Q14.8" MONDO:0020354 "SCTID:39302008" MONDO:0005429 "EFO:0004720" MONDO:0005429 "KEGG:05020" MONDO:0005429 "ICD9:046.19" +MONDO:0005429 "ICD10CM:A80-A89" MONDO:0005429 "NCIT:C128346" MONDO:0005429 "MESH:D017096" MONDO:0005429 "SCTID:230284004" MONDO:0005429 "OMIM:606688" MONDO:0005429 "DOID:649" -MONDO:0005429 "ICD10:A81.9" MONDO:0005429 "OMIM:245300" MONDO:0002786 "UMLS:C1334576" MONDO:0002786 "NCIT:C5126" @@ -82807,13 +80763,13 @@ MONDO:0010499 "UMLS:C4225419" MONDO:0010499 "OMIM:300963" MONDO:0010499 "Orphanet:7" NCBITaxon:11020 "GC_ID:1" -MONDO:0013898 "ICD10:N11.8" +MONDO:0013898 "Orphanet:401996" MONDO:0013898 "DOID:0060911" MONDO:0013898 "UMLS:C3553774" +MONDO:0013898 "ICD10CM:N11.8" MONDO:0013898 "OMIM:614817" MONDO:0013898 "GARD:0011003" -MONDO:0013898 "Orphanet:401996" -MONDO:0016088 "ICD10:E79.8" +MONDO:0016088 "ICD10CM:E79.8" MONDO:0016088 "UMLS:C0023374" MONDO:0016088 "GARD:0002943" MONDO:0016088 "SCTID:124275001" @@ -82822,8 +80778,8 @@ MONDO:0016088 "ICD9:277.6" MONDO:0013919 "OMIM:614847" MONDO:0013919 "DOID:0111313" MONDO:0008484 "UMLS:C1866656" +MONDO:0008484 "ICD10CM:Q87.8" MONDO:0008484 "OMIM:184460" -MONDO:0008484 "ICD10:Q87.8" MONDO:0008484 "Orphanet:140917" MONDO:0008484 "SCTID:719305006" MONDO:0019117 "Orphanet:71859" @@ -82836,11 +80792,10 @@ MONDO:0001384 "EFO:0003927" MONDO:0001384 "MESH:D009216" MONDO:0001384 "ICD9:367.1" MONDO:0001384 "SCTID:57190000" -MONDO:0001384 "ICD10:H52.1" +MONDO:0001384 "ICD10CM:H52.1" MONDO:0001384 "UMLS:C0027092" MONDO:0007287 "Orphanet:98991" MONDO:0007287 "Orphanet:91492" -MONDO:0007287 "ICD10:Q12.0" MONDO:0007287 "UMLS:C3805412" MONDO:0007287 "OMIM:116400" MONDO:0007287 "DOID:0110241" @@ -82854,9 +80809,8 @@ MONDO:0002330 "ICD9:291.89" MONDO:0001603 "DOID:12958" MONDO:0001603 "HP:0030003" MONDO:0001603 "UMLS:C0155197" -MONDO:0001603 "ICD10:H02.23" MONDO:0001603 "ICD9:374.21" -MONDO:0004760 "ICD10:N36.5" +MONDO:0004760 "ICD10CM:N36.5" MONDO:0004760 "DOID:9339" MONDO:0004760 "SCTID:74944002" MONDO:0004760 "ICD9:599.4" @@ -82866,18 +80820,18 @@ MONDO:0100246 "OMIMPS:157300" MONDO:0030906 "DOID:0050270" MONDO:0007545 "OMIM:131430" MONDO:0007545 "UMLS:C1851586" -MONDO:0010686 "ICD10:Q87.8" MONDO:0010686 "MESH:C536108" MONDO:0010686 "DOID:0050769" MONDO:0010686 "SCTID:723410002" MONDO:0010686 "GARD:0003902" MONDO:0010686 "Orphanet:2608" +MONDO:0010686 "ICD10CM:Q87.8" MONDO:0010686 "OMIM:310465" MONDO:0010686 "UMLS:C2936859" MONDO:0020751 "OMIM:618182" MONDO:0019581 "ICD9:701.8" +MONDO:0019581 "ICD10CM:L98.5" MONDO:0019581 "Orphanet:90396" -MONDO:0019581 "ICD10:L98.5" MONDO:0019581 "UMLS:C0406660" MONDO:0019581 "SCTID:238949006" HP:0010910 "MSH:C536524" @@ -82895,10 +80849,10 @@ MONDO:0008671 "MESH:C536464" MONDO:0001571 "DOID:12698" MONDO:0001571 "NCIT:C3073" MONDO:0001571 "MESH:D006177" -MONDO:0001571 "ICD10:N62" MONDO:0001571 "UMLS:C0018418" MONDO:0001571 "HP:0000771" MONDO:0001571 "SCTID:4754008" +MONDO:0001571 "ICD10CM:N62" MONDO:0007474 "OMIM:126840" MONDO:0007474 "MESH:C535721" MONDO:0007474 "GARD:0009743" @@ -82906,18 +80860,18 @@ MONDO:0007474 "UMLS:C1852009" NCBITaxon:1980418 "GC_ID:1" MONDO:0000615 "DOID:0060077" MONDO:0019464 "SCTID:68979007" +MONDO:0019464 "ICD10CM:C88.3" MONDO:0019464 "MESH:D006362" MONDO:0019464 "UMLS:C0018852" MONDO:0019464 "NCIT:C3083" MONDO:0019464 "SCTID:109984001" MONDO:0019464 "DOID:0060125" +MONDO:0019464 "ICD10CM:C88.2" MONDO:0019464 "ICD9:273.2" MONDO:0019464 "SCTID:61493004" -MONDO:0019464 "ICD10:C88.2" MONDO:0019464 "NCIT:C3892" MONDO:0019464 "Orphanet:86864" MONDO:0019464 "NCIT:C3082" -MONDO:0019464 "ICD10:C88.3" MONDO:0019464 "EFO:1001341" MONDO:0019464 "ICDO:9762/3" MONDO:0019464 "MedDRA:10019350" @@ -82939,22 +80893,20 @@ MONDO:0001187 "DOID:11054" MONDO:0001187 "NCIT:C9334" MONDO:0001187 "KEGG:05219" MONDO:0001187 "UMLS:C0005695" -MONDO:0001187 "ICD10:C67.9" MONDO:0001187 "NCIT:C2901" MONDO:0001187 "Orphanet:157980" MONDO:0001187 "OMIM:109800" MONDO:0001187 "SCTID:399326009" MONDO:0001187 "ICD9:188" -MONDO:0001187 "ICD10:C67" MONDO:0001187 "SCTID:126885006" MONDO:0002261 "DOID:2283" MONDO:0002261 "UMLS:C0235270" MONDO:0002261 "NCIT:C27012" -MONDO:0008892 "ICD10:K76.8" MONDO:0008892 "OMIM:211600" MONDO:0008892 "UMLS:C0268312" MONDO:0008892 "UMLS:CN205891" MONDO:0008892 "Orphanet:79306" +MONDO:0008892 "ICD10CM:K76.8" MONDO:0008892 "GARD:0009802" MONDO:0008892 "DOID:0070226" MONDO:0008892 "Orphanet:172" @@ -82962,20 +80914,19 @@ MONDO:0009534 "OMIM:247430" MONDO:0009534 "MESH:C565433" MONDO:0013447 "DOID:0110382" MONDO:0013447 "UMLS:C3151190" -MONDO:0013447 "ICD10:H35.5" MONDO:0013447 "OMIM:613827" MONDO:0009710 "Orphanet:614" MONDO:0009710 "OMIM:255300" MONDO:0009710 "UMLS:C0027127" MONDO:0009710 "SCTID:726051002" +MONDO:0009710 "ICD10CM:G71.1" MONDO:0009710 "GARD:0012301" MONDO:0009710 "MedDRA:10043461" MONDO:0009710 "NCIT:C84912" +MONDO:0009710 "ICD10CM:G71.12" MONDO:0009710 "OMIM:160800" -MONDO:0009710 "ICD10:G71.1" MONDO:0009710 "OMIM:255700" MONDO:0009710 "MedDRA:10028655" -MONDO:0009710 "ICD10:G71.12" MONDO:0009710 "DOID:2106" MONDO:0009710 "ICD9:359.22" MONDO:0033047 "DOID:0080256" @@ -82991,15 +80942,15 @@ MONDO:0010922 "MedDRA:10070579" MONDO:0010922 "UMLS:C1833454" MONDO:0010922 "OMIM:600705" MONDO:0017724 "UMLS:CN203620" -MONDO:0017724 "ICD10:E75.0" MONDO:0017724 "Orphanet:309178" +MONDO:0017724 "ICD10CM:E75.0" +MONDO:0016661 "ICD10CM:M08.8" MONDO:0016661 "Orphanet:251304" -MONDO:0016661 "ICD10:M08.8" MONDO:0013783 "UMLS:C3281027" MONDO:0013783 "Orphanet:98938" MONDO:0013783 "OMIM:614497" +MONDO:0017898 "ICD10CM:D84.8" MONDO:0017898 "UMLS:CN203954" -MONDO:0017898 "ICD10:D84.8" MONDO:0017898 "Orphanet:319539" MONDO:0004376 "UMLS:C1518329" MONDO:0004376 "DOID:7839" @@ -83007,9 +80958,9 @@ MONDO:0004376 "NCIT:C40363" MONDO:0009064 "Orphanet:411641" MONDO:0009064 "Orphanet:213" MONDO:0009064 "OMIM:219750" +MONDO:0009064 "ICD10CM:E72.0" MONDO:0009064 "UMLS:C2931013" MONDO:0009064 "MESH:C535765" -MONDO:0009064 "ICD10:E72.0" HP:0002093 "UMLS:C4020855" HP:0002093 "SNOMEDCT_US:409623005" HP:0002093 "UMLS:C0035229" @@ -83019,39 +80970,39 @@ MONDO:0014888 "NCIT:C147530" MONDO:0014888 "UMLS:C4284088" MONDO:0014888 "OMIM:617053" MONDO:0014888 "Orphanet:494433" +MONDO:0017078 "ICD10CM:Q01.0" MONDO:0017078 "ICD9:742.0" -MONDO:0017078 "ICD10:Q01.0" -MONDO:0017078 "ICD10:Q01.1" -MONDO:0017078 "ICD10:Q01.8" +MONDO:0017078 "ICD10CM:Q01.9" MONDO:0017078 "Orphanet:268817" MONDO:0017078 "NCIT:C84687" -MONDO:0017078 "ICD10:Q01.2" MONDO:0017078 "SCTID:55999004" -MONDO:0017078 "ICD10:Q01.9" +MONDO:0017078 "ICD10CM:Q01.1" +MONDO:0017078 "ICD10CM:Q01.2" +MONDO:0017078 "ICD10CM:Q01.8" MONDO:0017078 "HP:0011815" MONDO:0018152 "SCTID:312491004" MONDO:0018152 "ICD9:363.8" MONDO:0018152 "UMLS:C0729842" MONDO:0018152 "Orphanet:35686" MONDO:0018152 "GARD:0000031" -MONDO:0018152 "ICD10:H30.8" +MONDO:0018152 "ICD10CM:H30.8" MONDO:0008263 "MESH:C536326" MONDO:0008263 "OMIM:173900" MONDO:0008263 "Orphanet:730" MONDO:0008263 "UMLS:C3149841" MONDO:0008263 "DOID:0110858" MONDO:0008263 "SCTID:253878003" -MONDO:0015766 "ICD10:A00.9" -MONDO:0015766 "ICD10:A00" +MONDO:0015766 "ICD10CM:A00" MONDO:0015766 "MESH:D002771" MONDO:0015766 "GARD:0006043" MONDO:0015766 "ICD9:001.9" +MONDO:0015766 "ICD10CM:A00.9" MONDO:0015766 "Orphanet:173" MONDO:0015766 "MedDRA:10008631" MONDO:0015766 "SCTID:63650001" -MONDO:0015766 "ICD10:A00.0" +MONDO:0015766 "ICD10CM:A00.1" +MONDO:0015766 "ICD10CM:A00.0" MONDO:0015766 "ICD9:001.0" -MONDO:0015766 "ICD10:A00.1" MONDO:0015766 "UMLS:C0008354" MONDO:0015766 "ICD9:001" MONDO:0015766 "DOID:1498" @@ -83067,8 +81018,8 @@ MONDO:0007066 "SCTID:725057008" MONDO:0010139 "UMLS:C0271789" MONDO:0010139 "GARD:0010129" MONDO:0010139 "OMIM:275100" -MONDO:0010139 "ICD10:E03.1" MONDO:0010139 "UMLS:C4082174" +MONDO:0010139 "ICD10CM:E03.1" MONDO:0010139 "DOID:0070123" MONDO:0010139 "Orphanet:90674" MONDO:0024880 "NCIT:C36263" @@ -83079,8 +81030,8 @@ MONDO:0020204 "NCIT:C2961" MONDO:0020204 "Orphanet:98616" MONDO:0013970 "UMLS:C3554078" MONDO:0013970 "OMIM:614923" -MONDO:0013970 "ICD10:E71.1" MONDO:0013970 "DOID:0090126" +MONDO:0013970 "ICD10CM:E71.1" MONDO:0013970 "Orphanet:308410" MONDO:0002636 "SCTID:84759007" MONDO:0002636 "MESH:D020436" @@ -83102,7 +81053,6 @@ MONDO:0019013 "Orphanet:658" MONDO:0019013 "SCTID:41291007" MONDO:0016370 "MESH:D054319" MONDO:0016370 "EFO:1001809" -MONDO:0016370 "ICD10:G37.1" MONDO:0016370 "UMLS:C0238265" MONDO:0016370 "GARD:0006971" MONDO:0016370 "NCIT:C97045" @@ -83110,38 +81060,36 @@ MONDO:0016370 "SCTID:386766007" MONDO:0016370 "ICD9:341.8" MONDO:0016370 "Orphanet:221074" MONDO:0016370 "MedDRA:10026828" -MONDO:0030015 "OMIM:618849" MONDO:0009357 "UMLS:C1968717" MONDO:0009357 "OMIM:236410" MONDO:0009357 "MESH:C566888" +MONDO:0030015 "OMIM:618849" MONDO:0015953 "UMLS:CN200550" MONDO:0015953 "Orphanet:183503" MONDO:0014176 "OMIM:615419" MONDO:0014176 "OMIMPS:615419" -MONDO:0014176 "ICD10:Q87.8" +MONDO:0014176 "ICD10CM:Q87.8" MONDO:0014176 "Orphanet:371364" MONDO:0014176 "UMLS:CN204877" MONDO:0014176 "OMIM:616801" HP:0011297 "UMLS:C3550704" MONDO:0020403 "Orphanet:99062" -MONDO:0020403 "ICD10:Q23.3" -MONDO:0011610 "ICD10:E72.5" +MONDO:0020403 "ICD10CM:Q23.3" +MONDO:0011610 "ICD10CM:E72.5" MONDO:0011610 "Orphanet:243343" MONDO:0011610 "MESH:C565278" MONDO:0011610 "OMIM:605850" MONDO:0011610 "UMLS:C1853892" MONDO:0011610 "SCTID:719449007" -MONDO:0003805 "UMLS:C0346110" MONDO:0003805 "SCTID:109383000" -MONDO:0003805 "ICD10:C45.2" -MONDO:0003805 "DOID:6201" MONDO:0003805 "NCIT:C7631" +MONDO:0003805 "DOID:6201" +MONDO:0003805 "UMLS:C0346110" MONDO:0003805 "HP:0100004" MONDO:0003805 "UMLS:C1335381" NCBITaxon:1570301 "GC_ID:1" MONDO:0005295 "MESH:D007383" MONDO:0005295 "UMLS:C0021775" -MONDO:0005295 "ICD10:I73.9" MONDO:0005295 "SCTID:63491006" MONDO:0005295 "ICD9:440.21" MONDO:0005295 "DOID:3669" @@ -83154,19 +81102,19 @@ MONDO:0008521 "UMLS:C1861305" MONDO:0008521 "ICD9:756.9" MONDO:0008521 "OMIM:186570" MONDO:0008521 "DOID:0050789" -MONDO:0008521 "ICD10:Q74.8" +MONDO:0008521 "ICD10CM:Q74.8" MONDO:0008521 "GARD:0009225" NCBITaxon:12721 "GC_ID:1" MONDO:0012184 "Orphanet:2670" MONDO:0012184 "GARD:0009420" MONDO:0012184 "OMIM:609049" MONDO:0012184 "NCIT:C128145" -MONDO:0012184 "ICD10:N04.8" MONDO:0012184 "MESH:C537185" MONDO:0012184 "GARD:0003945" MONDO:0012184 "DOID:0060852" MONDO:0012184 "SCTID:723449004" MONDO:0012184 "UMLS:C1836876" +MONDO:0012184 "ICD10CM:N04.8" MONDO:0003251 "UMLS:C1333448" MONDO:0003251 "NCIT:C5700" MONDO:0003251 "DOID:5040" @@ -83176,10 +81124,9 @@ MONDO:0011916 "OMIM:607831" MONDO:0011916 "DOID:0110167" MONDO:0011916 "Orphanet:101097" MONDO:0011916 "UMLS:C1842983" -MONDO:0011916 "ICD10:G60.0" +MONDO:0011916 "ICD10CM:G60.0" MONDO:0011916 "SCTID:725047007" MONDO:0011916 "UMLS:C1842984" -MONDO:0014363 "ICD10:H90.3" MONDO:0014363 "UMLS:C3892049" MONDO:0014363 "DOID:0110462" MONDO:0014363 "OMIM:615837" @@ -83188,9 +81135,9 @@ MONDO:0010851 "SCTID:721974000" MONDO:0010851 "UMLS:C0796020" MONDO:0010851 "OMIM:600252" MONDO:0010851 "MESH:C537037" -MONDO:0010851 "ICD10:Q87.8" MONDO:0010851 "GARD:0003300" MONDO:0010851 "Orphanet:2409" +MONDO:0010851 "ICD10CM:Q87.8" CL:0002494 "FMA:83808" CL:0002494 "BTO:0001539" CL:0002494 "CALOHA:TS-0115" @@ -83198,14 +81145,13 @@ CL:0002494 "FMA:84791" MONDO:0032651 "OMIM:618278" MONDO:0018714 "Orphanet:458768" MONDO:0018714 "UMLS:CN242194" -MONDO:0018714 "ICD10:D18.0" +MONDO:0018714 "ICD10CM:D18.0" MONDO:0018714 "NCIT:C7526" MONDO:0018714 "ICDO:9135/1" MONDO:0000794 "DOID:0060519" MONDO:0013562 "Orphanet:1163" MONDO:0013562 "OMIM:614079" MONDO:0010031 "MedDRA:10048676" -MONDO:0010031 "ICD10:Q87.1" MONDO:0010031 "GARD:0007654" MONDO:0010031 "UMLS:C0037231" MONDO:0010031 "SCTID:111303009" @@ -83221,21 +81167,19 @@ MONDO:0032580 "DOID:0080392" MONDO:0032580 "OMIM:618176" MONDO:0004565 "NCIT:C9175" MONDO:0004565 "ICD9:560.89" -MONDO:0004565 "ICD10:K56.60" MONDO:0004565 "SCTID:81060008" MONDO:0004565 "DOID:8437" MONDO:0004565 "MESH:D007415" MONDO:0004565 "UMLS:C0021843" MONDO:0004565 "ICD9:560.9" -MONDO:0004565 "ICD10:K56.69" MONDO:0009253 "OMIM:229850" MONDO:0009253 "MESH:C538070" MONDO:0009253 "SCTID:702432006" -MONDO:0009253 "ICD10:Q87.8" MONDO:0009253 "ICD9:759.89" MONDO:0009253 "NCIT:C98932" MONDO:0009253 "UMLS:C0220730" MONDO:0009253 "GARD:0003699" +MONDO:0009253 "ICD10CM:Q87.8" MONDO:0009253 "Orphanet:2059" MONDO:0003368 "NCIT:C5526" MONDO:0003368 "DOID:5282" @@ -83243,23 +81187,21 @@ MONDO:0003368 "UMLS:C1335511" CL:0000100 "WBbt:0005409" CL:0000100 "FMA:83617" CL:0000100 "BTO:0000312" -MONDO:0024312 "ICD10:C40.1" +MONDO:0024312 "ICD10CM:C40.1" MONDO:0008056 "Orphanet:273" MONDO:0008056 "DOID:11722" MONDO:0008056 "MESH:D009223" MONDO:0008056 "OMIM:160900" MONDO:0008056 "NCIT:C84679" -MONDO:0008056 "ICD10:G71.1" MONDO:0008056 "NCIT:C84914" MONDO:0008056 "GARD:0008310" MONDO:0008056 "ICD9:359.21" MONDO:0008056 "UMLS:C0027126" -MONDO:0008056 "ICD10:G71.11" +MONDO:0008056 "ICD10CM:G71.1" MONDO:0011433 "OMIM:604315" MONDO:0011433 "MESH:C565796" MONDO:0011433 "UMLS:C1858537" MONDO:0006744 "ICD9:386.8" -MONDO:0006744 "ICD10:H81.0" MONDO:0006744 "MedDRA:10049934" MONDO:0006744 "UMLS:C0206586" MONDO:0006744 "DOID:9848" @@ -83271,6 +81213,7 @@ MONDO:0013633 "OMIM:614212" MONDO:0003626 "UMLS:C1519872" MONDO:0003626 "DOID:5747" MONDO:0003626 "NCIT:C40136" +MONDO:0020019 "ICD10CM:Q38-Q45" MONDO:0020019 "Orphanet:98039" MONDO:0004752 "NCIT:C5359" MONDO:0004752 "UMLS:C1096349" @@ -83285,9 +81228,9 @@ MONDO:0009136 "SCTID:707272006" MONDO:0009136 "DOID:0070015" MONDO:0019319 "SCTID:398723007" MONDO:0019319 "UMLS:C0362030" -MONDO:0019319 "ICD10:Q82.5" MONDO:0019319 "NCIT:C4674" MONDO:0019319 "Orphanet:79467" +MONDO:0019319 "ICD10CM:Q82.5" MONDO:0003555 "UMLS:C1511050" MONDO:0003555 "DOID:5630" MONDO:0003555 "NCIT:C40296" @@ -83300,7 +81243,6 @@ MONDO:0012874 "Orphanet:79152" MONDO:0012874 "MESH:C567339" MONDO:0012874 "UMLS:C2676508" MONDO:0012874 "OMIM:612353" -MONDO:0006931 "ICD10:R91.1" MONDO:0006931 "MESH:D003074" MONDO:0006931 "EFO:1001133" MONDO:0006931 "DOID:5364" @@ -83345,7 +81287,7 @@ MONDO:0001597 "MESH:D013364" MONDO:0001597 "DOID:12897" MONDO:0001597 "UMLS:C0038557" MONDO:0017243 "Orphanet:280785" -MONDO:0017243 "ICD10:Q82.2" +MONDO:0017243 "ICD10CM:Q82.2" MONDO:0008124 "GARD:0004218" MONDO:0008124 "UMLS:C3277235" MONDO:0008124 "UMLS:C0795690" @@ -83354,13 +81296,12 @@ MONDO:0008124 "OMIM:164750" MONDO:0002239 "DOID:2181" MONDO:0002239 "ICD9:251.3" MONDO:0002239 "SCTID:190437000" -MONDO:0002239 "ICD10:E89.1" MONDO:0002239 "UMLS:C0154190" -MONDO:0019170 "ICD10:M30.0" MONDO:0019170 "UMLS:C0031036" MONDO:0019170 "Orphanet:767" MONDO:0019170 "ICD9:446.0" MONDO:0019170 "MESH:D010488" +MONDO:0019170 "ICD10CM:M30.0" MONDO:0019170 "GARD:0007360" MONDO:0019170 "MedDRA:10036024" MONDO:0019170 "DOID:9810" @@ -83376,19 +81317,18 @@ MONDO:0004973 "UMLS:C0279557" MONDO:0004973 "NCIT:C9133" MONDO:0004973 "DOID:4829" MONDO:0010304 "OMIM:300351" +MONDO:0005615 "ICD10CM:C90.3" MONDO:0005615 "NCIT:C9349" MONDO:0005615 "MedDRA:10035484" MONDO:0005615 "UMLS:C0032131" MONDO:0005615 "ICDO:9731/3" MONDO:0005615 "ICD9:238.6" -MONDO:0005615 "ICD10:C90.2" MONDO:0005615 "Orphanet:86855" MONDO:0005615 "EFO:0006738" -MONDO:0005615 "ICD10:C90.30" MONDO:0005615 "GARD:0007404" MONDO:0005615 "DOID:3721" -MONDO:0005615 "ICD10:C90.3" MONDO:0005615 "MESH:D010954" +MONDO:0005615 "ICD10CM:C90.2" MONDO:0005615 "SCTID:415112005" MONDO:0044350 "Orphanet:99878" MONDO:0044350 "MESH:C563982" @@ -83397,10 +81337,10 @@ MONDO:0030017 "OMIM:618851" MONDO:0044727 "Orphanet:506112" MONDO:0044727 "UMLS:C1709050" MONDO:0044727 "NCIT:C45843" -MONDO:0018645 "ICD10:K83.0" MONDO:0018645 "Orphanet:447764" MONDO:0018645 "UMLS:C4302109" MONDO:0018645 "SCTID:722870008" +MONDO:0018645 "ICD10CM:K83.0" MONDO:0009526 "UMLS:CN776928" MONDO:0009526 "GARD:0002622" MONDO:0009526 "OMIM:246570" @@ -83426,7 +81366,6 @@ MONDO:0004856 "SCTID:10128002" MONDO:0004856 "UMLS:C0155152" MONDO:0004856 "ICD9:372.31" MONDO:0004856 "DOID:9709" -MONDO:0009736 "ICD10:Q87.8" MONDO:0009736 "OMIM:256520" MONDO:0009736 "OMIM:616038" MONDO:0009736 "MESH:C536405" @@ -83436,7 +81375,6 @@ MONDO:0009736 "UMLS:C0265218" MONDO:0005802 "UMLS:C0020413" MONDO:0005802 "MESH:D006925" MONDO:0005802 "NCIT:C84768" -MONDO:0005802 "ICD10:B71.0" MONDO:0005802 "GARD:0002787" MONDO:0005802 "MedDRA:10020546" MONDO:0005802 "ICD9:123.6" @@ -83445,17 +81383,18 @@ MONDO:0005802 "SCTID:44917000" MONDO:0005802 "EFO:0007317" MONDO:0005802 "UMLS:C0277045" MONDO:0005802 "DOID:10074" +MONDO:0005802 "ICD10CM:B71.0" MONDO:0033570 "OMIM:619025" +MONDO:0019677 "ICD10CM:Q73.8" MONDO:0019677 "OMIM:613382" MONDO:0019677 "GARD:0000987" -MONDO:0019677 "ICD10:Q73.8" MONDO:0019677 "OMIM:113300" MONDO:0019677 "Orphanet:93387" MONDO:0017590 "ONCOTREE:AMPCA" +MONDO:0017590 "ICD10CM:C24.1" MONDO:0017590 "SCTID:254609000" MONDO:0017590 "MedDRA:10048853" MONDO:0017590 "NCIT:C3908" -MONDO:0017590 "ICD10:C24.1" MONDO:0017590 "EFO:1000079" MONDO:0017590 "DOID:4932" MONDO:0017590 "UMLS:C0262401" @@ -83478,7 +81417,6 @@ MONDO:0006547 "EFO:1000697" MONDO:0006547 "DOID:0050486" MONDO:0006547 "MESH:D005076" MONDO:0006547 "Wikipedia:Exanthem" -MONDO:0006547 "ICD10:R21" MONDO:0006547 "NCIT:C39594" MONDO:0006547 "SCTID:271807003" MONDO:0024282 "ONCOTREE:MOV" @@ -83488,6 +81426,7 @@ MONDO:0005460 "SCTID:442696006" MONDO:0005460 "DOID:0050211" MONDO:0005460 "EFO:0005226" MONDO:0005460 "NCIT:C80444" +MONDO:0008977 "ICD10CM:C49.9" MONDO:0008977 "Orphanet:55880" MONDO:0008977 "DOID:3371" MONDO:0008977 "SCTID:443520009" @@ -83499,25 +81438,24 @@ MONDO:0008977 "MedDRA:10008734" MONDO:0008977 "ICDO:9220/3" MONDO:0008977 "GARD:0006055" MONDO:0008977 "MESH:D002813" -MONDO:0008977 "ICD10:C49.9" MONDO:0008977 "UMLS:C0008479" MONDO:0008977 "ONCOTREE:CHS" MONDO:0008977 "NCIT:C2946" MONDO:0007660 "UMLS:CN237560" MONDO:0007660 "Orphanet:435329" +MONDO:0007660 "ICD10CM:D16.4" MONDO:0007660 "MESH:C563017" -MONDO:0007660 "ICD10:D16.4" MONDO:0007660 "OMIM:137575" MONDO:0007660 "GARD:0010887" MONDO:0042451 "SCTID:88027004" MONDO:0009923 "OMIM:264600" MONDO:0009923 "MESH:C535830" MONDO:0009923 "Orphanet:753" +MONDO:0009923 "ICD10CM:Q56.1" MONDO:0009923 "SCTID:57514000" MONDO:0009923 "GARD:0005680" MONDO:0009923 "NCIT:C98699" MONDO:0009923 "MedDRA:10000029" -MONDO:0009923 "ICD10:Q56.1" NCBITaxon:1783257 "PMID:23851394" NCBITaxon:1783257 "GC_ID:11" NCBITaxon:1783257 "PMID:24185849" @@ -83533,17 +81471,17 @@ MONDO:0005438 "NCIT:C4904" HP:0012864 "SNOMEDCT_US:236817003" HP:0012864 "UMLS:C0403824" HP:0012864 "MSH:D000072660" +MONDO:0017937 "ICD10CM:G60.0" MONDO:0017937 "Orphanet:324585" -MONDO:0017937 "ICD10:G60.0" MONDO:0017937 "UMLS:CN204081" MONDO:0021187 "HP:0003077" MONDO:0021187 "MESH:D006949" MONDO:0021187 "ICD9:272.4" MONDO:0021187 "UMLS:C0020473" -MONDO:0021187 "ICD10:E78.5" MONDO:0021187 "EFO:0003774" MONDO:0021187 "UMLS:CN236649" MONDO:0021187 "SCTID:55822004" +MONDO:0021187 "ICD10CM:E78.5" NCBITaxon:34502 "GC_ID:1" MONDO:0001072 "DOID:10590" MONDO:0001072 "ICD9:642.41" @@ -83558,11 +81496,10 @@ MONDO:0008814 "NCIT:C84568" MONDO:0008814 "UMLS:C0268548" MONDO:0008814 "Orphanet:90" MONDO:0008814 "MedDRA:10062695" -MONDO:0008814 "ICD10:E72.2" -MONDO:0008814 "ICD10:E72.21" MONDO:0008814 "MESH:D020162" MONDO:0008814 "SCTID:23501004" MONDO:0008814 "OMIM:207800" +MONDO:0008814 "ICD10CM:E72.2" HP:0001907 "SNOMEDCT_US:13713005" HP:0001907 "UMLS:C0040038" HP:0001907 "MSH:D013923" @@ -83574,27 +81511,26 @@ MONDO:0010200 "MedDRA:10019819" MONDO:0010200 "OMIM:277900" MONDO:0010200 "GARD:0007893" MONDO:0010200 "SCTID:88518009" -MONDO:0010200 "ICD10:E83.0" +MONDO:0010200 "ICD10CM:E83.0" MONDO:0010200 "DOID:893" -MONDO:0010200 "ICD10:E83.01" MONDO:0010200 "UMLS:C0019202" MONDO:0010200 "MESH:D006527" MONDO:0010200 "Orphanet:905" MONDO:0007988 "MESH:C537323" MONDO:0007988 "OMIM:616311" MONDO:0007988 "Orphanet:2514" +MONDO:0007988 "ICD10CM:Q02" MONDO:0007988 "OMIM:156580" MONDO:0007988 "UMLS:C4755316" MONDO:0007988 "DOID:14725" MONDO:0007988 "GARD:0003605" -MONDO:0007988 "ICD10:Q02" MONDO:0019172 "DOID:12271" MONDO:0019172 "Orphanet:77" -MONDO:0019172 "ICD10:Q13.1" MONDO:0019172 "NCIT:C84563" MONDO:0019172 "UMLS:C0003076" MONDO:0019172 "ICD9:743.45" MONDO:0019172 "OMIM:106210" +MONDO:0019172 "ICD10CM:Q13.1" MONDO:0019172 "MedDRA:10002532" MONDO:0019172 "MESH:D015783" MONDO:0019172 "SCTID:69278003" @@ -83613,7 +81549,6 @@ MONDO:0016535 "OMIM:612132" MONDO:0016535 "DOID:14793" MONDO:0016535 "Orphanet:238468" MONDO:0016535 "OMIM:614941" -MONDO:0016535 "ICD10:Q82.4" MONDO:0016535 "OMIM:614940" MONDO:0006042 "GARD:0007828" MONDO:0006042 "MESH:D014390" @@ -83629,16 +81564,15 @@ MONDO:0003628 "DOID:5749" MONDO:0001376 "UMLS:C0153611" MONDO:0001376 "ICD9:188.3" MONDO:0001376 "DOID:11814" -MONDO:0001376 "ICD10:C67.3" MONDO:0001376 "SCTID:188242006" MONDO:0014168 "DOID:0060019" MONDO:0014168 "Orphanet:228003" MONDO:0014168 "UMLS:C3809383" -MONDO:0014168 "ICD10:D81.2" +MONDO:0014168 "ICD10CM:D81.2" MONDO:0014168 "OMIM:615401" -MONDO:0019911 "ICD10:Q99.8" MONDO:0019911 "Orphanet:96180" MONDO:0019911 "SCTID:766238001" +MONDO:0019911 "ICD10CM:Q99.8" MONDO:0013081 "Orphanet:538963" MONDO:0013081 "MESH:C567815" MONDO:0013081 "NCIT:C126344" @@ -83646,7 +81580,6 @@ MONDO:0013081 "UMLS:C3552634" MONDO:0013081 "Orphanet:238505" MONDO:0013081 "DOID:0060707" MONDO:0013081 "OMIM:613011" -MONDO:0013081 "ICD10:D47.9" MONDO:0043183 "MESH:C537518" MONDO:0043183 "UMLS:C2931519" MONDO:0043183 "GARD:0004387" @@ -83664,9 +81597,9 @@ MONDO:0044656 "SCTID:400142003" MONDO:0031007 "OMIM:619260" MONDO:0007483 "Orphanet:41" MONDO:0007483 "UMLS:C0406775" +MONDO:0007483 "ICD10CM:L81.8" MONDO:0007483 "NCIT:C118435" MONDO:0007483 "MESH:C535729" -MONDO:0007483 "ICD10:L81.8" MONDO:0007483 "GARD:0000334" MONDO:0007483 "DOID:0060257" MONDO:0007483 "EFO:0008878" @@ -83677,7 +81610,7 @@ MONDO:0012015 "GARD:0009600" MONDO:0012015 "MESH:C537855" MONDO:0012015 "UMLS:C1842186" MONDO:0012015 "OMIM:608345" -MONDO:0010882 "ICD10:Q87.2" +MONDO:0010882 "ICD10CM:Q87.2" MONDO:0010882 "Orphanet:1113" MONDO:0010882 "UMLS:C1838161" MONDO:0010882 "MESH:C563942" @@ -83693,13 +81626,13 @@ MONDO:0010727 "Orphanet:813" MONDO:0010727 "ICD9:758.81" HP:0007773 "UMLS:C1850109" NCBITaxon:12089 "GC_ID:1" +MONDO:0019109 "ICD10CM:G61.8" MONDO:0019109 "SCTID:715624006" MONDO:0019109 "UMLS:C2931684" MONDO:0019109 "MESH:C537980" MONDO:0019109 "GARD:0009778" MONDO:0019109 "Orphanet:71279" -MONDO:0019109 "ICD10:G61.8" -MONDO:0010306 "ICD10:Q87.8" +MONDO:0010306 "ICD10CM:Q87.8" MONDO:0010306 "DOID:0060822" MONDO:0010306 "OMIM:300354" MONDO:0010306 "UMLS:C1845845" @@ -83709,10 +81642,10 @@ MONDO:0010306 "GARD:0013244" MONDO:0010306 "UMLS:C1845861" MONDO:0017022 "UMLS:CN202335" MONDO:0017022 "Orphanet:264709" +MONDO:0016466 "ICD10CM:J61" MONDO:0016466 "EFO:0007153" MONDO:0016466 "MESH:D001195" MONDO:0016466 "SCTID:22607003" -MONDO:0016466 "ICD10:J61" MONDO:0016466 "Orphanet:2302" MONDO:0016466 "DOID:10320" MONDO:0016466 "UMLS:C0003949" @@ -83722,44 +81655,41 @@ MONDO:0016466 "NCIT:C84573" MONDO:0016466 "CSP:2596-4484" MONDO:0018580 "OMIM:616158" MONDO:0018580 "UMLS:CN237608" -MONDO:0018580 "ICD10:G40.4" MONDO:0018580 "Orphanet:438213" +MONDO:0018580 "ICD10CM:G40.4" NCBITaxon:31244 "GC_ID:1" -MONDO:0017412 "ICD10:Q92.3" -MONDO:0017412 "UMLS:CN203162" -MONDO:0017412 "Orphanet:294026" MONDO:0013456 "SCTID:124178006" MONDO:0013456 "MESH:C565095" MONDO:0013456 "OMIM:613839" -MONDO:0013456 "ICD10:D52.8" +MONDO:0013456 "ICD10CM:D52.8" MONDO:0013456 "GARD:0011000" MONDO:0013456 "Orphanet:319651" MONDO:0014402 "UMLS:C4014700" MONDO:0014402 "Orphanet:363400" +MONDO:0014402 "ICD10CM:G31.8" MONDO:0014402 "OMIM:615924" -MONDO:0014402 "ICD10:G31.8" MONDO:0015064 "Orphanet:100077" MONDO:0015064 "UMLS:CN197357" MONDO:0015064 "NCIT:C135090" MONDO:0016010 "SCTID:38323006" MONDO:0016010 "GARD:0008580" MONDO:0016010 "ICD9:759.89" +MONDO:0016010 "ICD10CM:Q86.2" MONDO:0016010 "UMLS:C0265374" -MONDO:0016010 "ICD10:Q86.2" MONDO:0016010 "MedDRA:10051445" MONDO:0016010 "MESH:C536683" MONDO:0016010 "Orphanet:1914" MONDO:0016010 "NCIT:C98906" MONDO:0019527 "UMLS:C0409999" +MONDO:0019527 "ICD10CM:M35.8" MONDO:0019527 "SCTID:239918008" MONDO:0019527 "Orphanet:90002" MONDO:0019527 "MedDRA:10071575" -MONDO:0019527 "ICD10:M35.8" MONDO:0019527 "NCIT:C116776" MONDO:0018853 "OMIM:133200" MONDO:0018853 "UMLS:CN205162" MONDO:0018853 "Orphanet:495" -MONDO:0018853 "ICD10:Q82.8" +MONDO:0018853 "ICD10CM:Q82.8" MONDO:0008617 "DOID:0110894" MONDO:0008617 "OMIM:191390" MONDO:0008617 "UMLS:C2674051" @@ -83783,15 +81713,13 @@ MONDO:0005310 "EFO:0003911" MONDO:0005310 "NCIT:C51224" MONDO:0005310 "SCTID:5370000" MONDO:0005310 "HP:0004749" -MONDO:0017529 "ICD10:Q70.4" MONDO:0017529 "UMLS:CN203260" MONDO:0017529 "Orphanet:295159" +MONDO:0017529 "ICD10CM:Q70.4" MONDO:0002691 "DOID:3571" -MONDO:0002691 "ICD10:C22.0" MONDO:0002691 "UMLS:C0854795" MONDO:0002691 "UMLS:C0024620" MONDO:0002691 "GARD:0006608" -MONDO:0002691 "ICD10:C22.9" MONDO:0002691 "UMLS:C0345904" MONDO:0002691 "ICD9:155.2" MONDO:0002691 "SCTID:93870000" @@ -83817,7 +81745,7 @@ MONDO:0003008 "NCIT:C39789" NCBITaxon:34620 "GC_ID:1" MONDO:0017939 "UMLS:CN204085" MONDO:0017939 "OMIM:602771" -MONDO:0017939 "ICD10:G71.2" +MONDO:0017939 "ICD10CM:G71.2" MONDO:0017939 "Orphanet:324604" NCBITaxon:123736 "GC_ID:1" NCBITaxon:2 "PMID:10425795" @@ -83858,7 +81786,6 @@ MONDO:0005607 "NCIT:C26722" MONDO:0005607 "ICD9:491.8" CL:0002134 "FMA:256171" MONDO:0009349 "OMIM:236100" -MONDO:0009349 "ICD10:Q04.1" MONDO:0009349 "Orphanet:2162" MONDO:0009349 "DOID:0110881" MONDO:0009349 "NCIT:C75476" @@ -83880,18 +81807,17 @@ MONDO:0019380 "ICD9:062.1" MONDO:0019380 "SCTID:47523006" MONDO:0019380 "DOID:10843" MONDO:0019380 "MESH:D020241" +MONDO:0019380 "ICD10CM:A83.1" MONDO:0019380 "GARD:0007888" MONDO:0019380 "MedDRA:10014614" MONDO:0019380 "NCIT:C85227" MONDO:0019380 "EFO:0007546" MONDO:0019380 "Orphanet:83593" -MONDO:0019380 "ICD10:A83.1" MONDO:0015758 "GARD:0006226" -MONDO:0015758 "ICD10:C84.8" MONDO:0015758 "MedDRA:10011677" MONDO:0015758 "MESH:D016410" MONDO:0015758 "Orphanet:171901" -MONDO:0018183 "ICD10:J15.2" +MONDO:0018183 "ICD10CM:J15.2" MONDO:0018183 "SCTID:763888005" MONDO:0018183 "Orphanet:36238" MONDO:0004050 "ICDO:9183/3" @@ -83899,7 +81825,7 @@ MONDO:0004050 "DOID:6951" MONDO:0004050 "ONCOTREE:TEOS" MONDO:0004050 "UMLS:C0259782" MONDO:0004050 "NCIT:C3902" -MONDO:0016871 "ICD10:Q93.5" +MONDO:0016871 "ICD10CM:Q93.5" MONDO:0016871 "Orphanet:261791" MONDO:0006250 "UMLS:C0745216" MONDO:0006250 "NCIT:C4935" @@ -83908,30 +81834,28 @@ MONDO:0006250 "ICD9:209.03" MONDO:0006250 "EFO:1000300" MONDO:0008209 "SCTID:703534001" MONDO:0008209 "GARD:0001237" -MONDO:0008209 "ICD10:Q87.8" MONDO:0008209 "DOID:0060563" +MONDO:0008209 "ICD10CM:Q87.8" MONDO:0008209 "UMLS:C1868570" MONDO:0008209 "ICD9:759.89" MONDO:0008209 "MESH:C566815" MONDO:0008209 "Orphanet:46627" MONDO:0008209 "OMIM:169100" MONDO:0016700 "MedDRA:10014968" +MONDO:0016700 "ICD10CM:C71.9" MONDO:0016700 "GARD:0010634" MONDO:0016700 "ONCOTREE:APE" MONDO:0016700 "NCIT:C4049" -MONDO:0016700 "ICD10:C71.9" MONDO:0016700 "ICDO:9392/3" MONDO:0016700 "Orphanet:251646" MONDO:0016700 "UMLS:C0280788" MONDO:0020363 "UMLS:CN207218" -MONDO:0020363 "ICD10:H18.5" MONDO:0020363 "Orphanet:98958" +MONDO:0020363 "ICD10CM:H18.5" MONDO:0010474 "Orphanet:2556" MONDO:0010474 "UMLS:C3550921" MONDO:0010474 "OMIM:300887" -MONDO:0001541 "ICD10:G57.60" MONDO:0001541 "ICD9:355.6" -MONDO:0001541 "ICD10:G57.6" MONDO:0001541 "UMLS:C0154752" MONDO:0001541 "SCTID:193148004" MONDO:0001541 "DOID:12524" @@ -83947,11 +81871,11 @@ MONDO:0021090 "UMLS:C1517894" MONDO:0021090 "NCIT:C40365" MONDO:0021090 "DOID:7076" MONDO:0007652 "GARD:0002436" +MONDO:0007652 "ICD10CM:K29.6" MONDO:0007652 "Orphanet:2494" MONDO:0007652 "DOID:8757" MONDO:0007652 "MedDRA:10017868" MONDO:0007652 "ICD9:535.21" -MONDO:0007652 "ICD10:K29.6" MONDO:0007652 "MESH:D005758" MONDO:0007652 "ICD9:535.2" MONDO:0007652 "NCIT:C67277" @@ -83976,10 +81900,9 @@ MONDO:0011936 "UMLS:C4303070" MONDO:0011936 "Orphanet:139471" MONDO:0011936 "MESH:C566440" MONDO:0011936 "UMLS:C1864689" -MONDO:0011936 "ICD10:Q11.2" +MONDO:0011936 "ICD10CM:Q11.2" MONDO:0011936 "OMIM:607932" MONDO:0019716 "NCIT:C94828" -MONDO:0019716 "ICD10:Q87.3" MONDO:0019716 "UMLS:C2986703" MONDO:0019716 "Orphanet:93460" MONDO:0019716 "UMLS:CN206621" @@ -84004,18 +81927,19 @@ MONDO:0013059 "Orphanet:51" MONDO:0013059 "OMIM:612952" MONDO:0013059 "MESH:C535608" MONDO:0008680 "MESH:C536853" +MONDO:0008680 "OMIM:605982" MONDO:0008680 "GARD:0008559" MONDO:0008680 "Orphanet:654" MONDO:0008680 "OMIM:194071" MONDO:0014005 "Orphanet:54370" -MONDO:0014005 "ICD10:N00.5" +MONDO:0014005 "ICD10CM:N00.5" MONDO:0014005 "NCIT:C123055" MONDO:0014005 "Orphanet:357008" MONDO:0014005 "Orphanet:329903" MONDO:0014005 "Orphanet:2134" MONDO:0014005 "OMIM:615008" MONDO:0012679 "DOID:0110945" -MONDO:0012679 "ICD10:Q78.2" +MONDO:0012679 "ICD10CM:Q78.2" MONDO:0012679 "Orphanet:210110" MONDO:0012679 "MESH:C566931" MONDO:0012679 "OMIM:611497" @@ -84044,17 +81968,15 @@ HP:0010535 "MSH:D012891" HP:0010535 "UMLS:C0037315" HP:0010535 "SNOMEDCT_US:73430006" MONDO:0011277 "OMIM:602994" -MONDO:0010023 "ICD10:D81.8" MONDO:0010023 "GARD:0000387" MONDO:0010023 "MESH:C536722" +MONDO:0010023 "ICD10CM:D81.8" MONDO:0010023 "Orphanet:911" MONDO:0010023 "OMIM:269840" MONDO:0010023 "SCTID:716378008" MONDO:0006940 "DOID:12170" MONDO:0006940 "SCTID:193137006" MONDO:0006940 "EFO:1001143" -MONDO:0006940 "ICD10:G56.30" -MONDO:0006940 "ICD10:G56.3" MONDO:0006940 "UMLS:C0154744" MONDO:0006940 "ICD9:354.3" MONDO:0006940 "SCTID:16644004" @@ -84065,9 +81987,9 @@ MONDO:0012223 "MESH:C563765" MONDO:0012223 "UMLS:C1836521" MONDO:0012223 "OMIM:609250" MONDO:0012866 "SCTID:764688002" +MONDO:0012866 "ICD10CM:G11.4" MONDO:0012866 "OMIM:612319" MONDO:0012866 "UMLS:C3496228" -MONDO:0012866 "ICD10:G11.4" MONDO:0012866 "Orphanet:171629" MONDO:0012866 "MESH:C567311" MONDO:0012866 "DOID:0110786" @@ -84077,10 +81999,9 @@ MONDO:0013848 "OMIM:614672" MONDO:0013848 "Orphanet:154" MONDO:0013848 "DOID:0110441" MONDO:0013848 "UMLS:C3553409" -MONDO:0013848 "ICD10:I42.0" +MONDO:0013848 "ICD10CM:I42.0" MONDO:0020142 "Orphanet:98543" MONDO:0020142 "UMLS:CN207023" -MONDO:0011464 "ICD10:G11.8" MONDO:0011464 "GARD:0010475" MONDO:0011464 "OMIM:604432" MONDO:0011464 "UMLS:C1858351" @@ -84089,19 +82010,19 @@ MONDO:0011464 "Orphanet:98767" MONDO:0011464 "UMLS:C4304886" MONDO:0011464 "SCTID:719207000" MONDO:0011464 "DOID:0050961" -MONDO:0005609 "ICD10:B02.9" +MONDO:0011464 "ICD10CM:G11.8" MONDO:0005609 "ICD9:053" MONDO:0005609 "UMLS:C0019360" MONDO:0005609 "MESH:D006562" -MONDO:0005609 "ICD10:B02" +MONDO:0005609 "ICD10CM:B02" MONDO:0005609 "EFO:0006510" MONDO:0005609 "SCTID:4740000" MONDO:0005609 "DOID:8536" MONDO:0005609 "NCIT:C71079" MONDO:0017048 "Orphanet:26790" MONDO:0017048 "NCIT:C3345" +MONDO:0017048 "ICD10CM:C78.6" MONDO:0017048 "GARD:0007488" -MONDO:0017048 "ICD10:C78.6" MONDO:0017048 "MESH:D011553" MONDO:0017048 "UMLS:C0033822" MONDO:0017048 "ICDO:8480/6" @@ -84122,12 +82043,12 @@ MONDO:0005115 "MESH:D004833" MONDO:0024263 "SCTID:276533002" MONDO:0024263 "NCIT:C118312" MONDO:0024263 "UMLS:C0349468" +MONDO:0100490 "OMIM:113700" HP:0004341 "UMLS:C4021658" MONDO:0005083 "OMIM:177900" MONDO:0005083 "OMIM:604316" MONDO:0005083 "GARD:0010262" MONDO:0005083 "OMIMPS:177900" -MONDO:0005083 "ICD10:L40" MONDO:0005083 "EFO:0000676" MONDO:0005083 "ICD9:696.5" MONDO:0005083 "OMIM:612950" @@ -84138,11 +82059,11 @@ MONDO:0005083 "UMLS:C0033860" MONDO:0005083 "OMIM:614070" MONDO:0005083 "ICD9:696.1" MONDO:0005083 "OMIM:607857" -MONDO:0005083 "ICD10:L40.9" MONDO:0005083 "OMIM:603935" MONDO:0005083 "OMIM:612410" MONDO:0005083 "OMIM:602723" MONDO:0005083 "ICD9:696" +MONDO:0005083 "ICD10CM:L40" MONDO:0005083 "OMIM:601454" MONDO:0005083 "DOID:8893" MONDO:0005083 "OMIM:612599" @@ -84150,13 +82071,14 @@ MONDO:0005083 "OMIM:605364" MONDO:0005083 "OMIM:610707" MONDO:0005083 "ICD9:696.8" MONDO:0005083 "OMIM:605606" +MONDO:0018489 "ICD10CM:G04.8" MONDO:0018489 "SCTID:765751002" -MONDO:0018489 "ICD10:G04.8" MONDO:0018489 "UMLS:CN237490" MONDO:0018489 "Orphanet:420789" MONDO:0017235 "Orphanet:280403" MONDO:0017235 "UMLS:CN202726" MONDO:0015923 "Orphanet:182086" +HP:0003677 "UMLS:C1854494" MONDO:0006556 "DOID:3158" MONDO:0006556 "MESH:D006229" MONDO:0006556 "EFO:1000706" @@ -84178,7 +82100,7 @@ MONDO:0005302 "OMIM:608904" MONDO:0005302 "OMIM:612312" MONDO:0005302 "ICD9:314.9" MONDO:0005302 "EFO:0003888" -HP:0003677 "UMLS:C1854494" +MONDO:0045019 "ICD10CM:O85-O92" MONDO:0045019 "UMLS:C0022927" MONDO:0045019 "SCTID:35046003" MONDO:0009932 "MESH:C564863" @@ -84186,13 +82108,13 @@ MONDO:0009932 "UMLS:C1849566" MONDO:0009932 "OMIM:265200" MONDO:0021029 "Orphanet:183460" MONDO:0019873 "SCTID:726706008" -MONDO:0019873 "ICD10:Q92.3" MONDO:0019873 "UMLS:CN206808" MONDO:0019873 "UMLS:C4512053" MONDO:0019873 "Orphanet:96072" MONDO:0015277 "ONCOTREE:THME" MONDO:0015277 "NCIT:C3879" MONDO:0015277 "GARD:0007004" +MONDO:0015277 "ICD10CM:C73" MONDO:0015277 "UMLS:C0238462" MONDO:0015277 "MedDRA:10027101" MONDO:0015277 "SCTID:255032005" @@ -84200,9 +82122,8 @@ MONDO:0015277 "UMLS:C0206693" MONDO:0015277 "HP:0002865" MONDO:0015277 "Orphanet:1332" MONDO:0015277 "DOID:3973" -MONDO:0015277 "ICD10:C73" MONDO:0030458 "OMIM:619574" -MONDO:0018676 "ICD10:J39.8" +MONDO:0018676 "ICD10CM:J39.8" MONDO:0018676 "GARD:0002032" MONDO:0018676 "Orphanet:449566" MONDO:0035398 "Orphanet:599376" @@ -84211,7 +82132,6 @@ MONDO:0011056 "UMLS:C1832426" MONDO:0011056 "MESH:C563336" MONDO:0011056 "OMIM:601363" NCBITaxon:7387 "GC_ID:1" -MONDO:0001385 "ICD10:H47.61" MONDO:0001385 "MESH:D019575" MONDO:0001385 "SCTID:68574006" MONDO:0001385 "UMLS:C0155320" @@ -84224,14 +82144,13 @@ MONDO:0007288 "Orphanet:98993" MONDO:0007288 "Orphanet:98994" MONDO:0007288 "Orphanet:91492" MONDO:0007288 "DOID:0110229" -MONDO:0007288 "ICD10:Q12.0" +MONDO:0018855 "SCTID:400059005" +MONDO:0018855 "GARD:0001042" MONDO:0018855 "Orphanet:498" MONDO:0018855 "MESH:C537412" -MONDO:0018855 "GARD:0001042" -MONDO:0018855 "ICD10:L85.8" MONDO:0018855 "ICD9:757.39" -MONDO:0018855 "SCTID:400059005" MONDO:0018855 "OMIM:604093" +MONDO:0018855 "ICD10CM:L85.8" MONDO:0013627 "Orphanet:2616" MONDO:0013627 "UMLS:C3280146" MONDO:0013627 "OMIM:614205" @@ -84239,7 +82158,7 @@ MONDO:0008619 "GARD:0004740" MONDO:0008619 "SCTID:715242008" MONDO:0008619 "MESH:C536935" MONDO:0008619 "UMLS:C1860615" -MONDO:0008619 "ICD10:Q78.5" +MONDO:0008619 "ICD10CM:Q78.5" MONDO:0008619 "Orphanet:1837" MONDO:0008619 "OMIM:191420" MONDO:0002331 "UMLS:C0027720" @@ -84251,10 +82170,10 @@ NCBITaxon:186801 "PMID:31076745" NCBITaxon:186801 "PMID:26410691" NCBITaxon:186801 "GC_ID:11" MONDO:0016863 "UMLS:CN202208" -MONDO:0016863 "ICD10:Q87.8" +MONDO:0016863 "ICD10CM:Q87.8" MONDO:0016863 "Orphanet:261638" MONDO:0019582 "Orphanet:90397" -MONDO:0019582 "ICD10:L98.5" +MONDO:0019582 "ICD10CM:L98.5" HP:0010911 "UMLS:C0268576" HP:0010911 "SNOMEDCT_US:24013007" MONDO:0002787 "MESH:D003397" @@ -84263,7 +82182,7 @@ MONDO:0002787 "UMLS:C0431129" MONDO:0002787 "ICDO:9351/1" MONDO:0002787 "NCIT:C4726" MONDO:0002787 "DOID:3846" -MONDO:0018385 "ICD10:M93.9" +MONDO:0018385 "ICD10CM:M93.9" MONDO:0018385 "Orphanet:399391" MONDO:0003733 "ONCOTREE:BMT" MONDO:0003733 "NCIT:C7013" @@ -84283,31 +82202,31 @@ MONDO:0007475 "UMLS:C1852008" MONDO:0007475 "MESH:C565086" MONDO:0007475 "OMIM:126850" MONDO:0008806 "SCTID:733118006" -MONDO:0008806 "ICD10:Q87.8" MONDO:0008806 "OMIM:207620" MONDO:0008806 "MESH:C535881" MONDO:0008806 "UMLS:C1859754" MONDO:0008806 "GARD:0003051" MONDO:0008806 "Orphanet:1112" +MONDO:0008806 "ICD10CM:Q87.8" MONDO:0006105 "UMLS:C0154025" MONDO:0006105 "EFO:1000110" MONDO:0006105 "NCIT:C3622" MONDO:0006105 "SCTID:92068002" MONDO:0009262 "DOID:0080489" -MONDO:0009262 "ICD10:E75.1" MONDO:0009262 "Orphanet:354" MONDO:0009262 "SCTID:238027003" MONDO:0009262 "GARD:0002431" MONDO:0009262 "Orphanet:79257" +MONDO:0009262 "ICD10CM:E75.1" MONDO:0009262 "OMIM:230650" +MONDO:0016089 "ICD10CM:E75.2" MONDO:0016089 "SCTID:238030005" -MONDO:0016089 "ICD10:E75.2" MONDO:0016089 "Orphanet:206436" MONDO:0000616 "DOID:0060078" MONDO:0019465 "ONCOTREE:NMZL" MONDO:0019465 "Orphanet:86867" MONDO:0019465 "MedDRA:10029460" -MONDO:0019465 "ICD10:C83.0" +MONDO:0019465 "ICD10CM:C83.0" MONDO:0019465 "SCTID:277623009" MONDO:0019465 "NCIT:C8863" MONDO:0019465 "DOID:0080211" @@ -84320,23 +82239,21 @@ MONDO:0019118 "NCIT:C35194" MONDO:0019118 "UMLS:C0854723" MONDO:0019118 "ICD9:362.7" MONDO:0019118 "MESH:D058499" -MONDO:0019118 "ICD10:H35.50" MONDO:0019118 "DOID:8500" MONDO:0019118 "NCIT:C35625" MONDO:0019118 "SCTID:314407005" -MONDO:0019118 "ICD10:H35.5" +MONDO:0019118 "ICD10CM:H35.5" MONDO:0019118 "MedDRA:10038857" MONDO:0019118 "DOID:8501" MONDO:0019118 "HP:0000556" MONDO:0019118 "ICD9:362.75" MONDO:0019118 "ICD9:362.72" -MONDO:0001775 "ICD10:K31.5" MONDO:0001775 "DOID:13687" MONDO:0001775 "ICD9:537.2" MONDO:0001775 "SCTID:52232007" MONDO:0001775 "UMLS:C0156087" +MONDO:0020402 "ICD10CM:Q23.8" MONDO:0020402 "Orphanet:99061" -MONDO:0020402 "ICD10:Q23.8" MONDO:0006073 "NCIT:C4310" MONDO:0006073 "EFO:1000072" MONDO:0006073 "MESH:C538229" @@ -84344,25 +82261,24 @@ MONDO:0006073 "ICDO:9300/0" MONDO:0018268 "UMLS:CN204847" MONDO:0018268 "Orphanet:370127" MONDO:0018268 "UMLS:C4305375" +MONDO:0018268 "ICD10CM:D69.1" MONDO:0018268 "SCTID:718554005" -MONDO:0018268 "ICD10:D69.1" MONDO:0006159 "UMLS:C1333109" MONDO:0006159 "EFO:1000192" MONDO:0006159 "NCIT:C27735" -MONDO:0004761 "ICD10:N36.1" MONDO:0004761 "DOID:9341" MONDO:0004761 "ICD9:599.2" MONDO:0100247 "OMIMPS:614080" -MONDO:0007546 "OMIM:131440" -MONDO:0007546 "MESH:C565054" -MONDO:0007546 "UMLS:C1851585" -MONDO:0007546 "DOID:0111344" -MONDO:0007546 "Orphanet:86830" MONDO:0010687 "MESH:C562901" MONDO:0010687 "Orphanet:93622" MONDO:0010687 "Orphanet:1652" MONDO:0010687 "SCTID:236713006" MONDO:0010687 "OMIM:310468" +MONDO:0007546 "OMIM:131440" +MONDO:0007546 "MESH:C565054" +MONDO:0007546 "UMLS:C1851585" +MONDO:0007546 "DOID:0111344" +MONDO:0007546 "Orphanet:86830" CL:0000120 "BTO:0003393" MONDO:0003954 "DOID:664" MONDO:0003954 "UMLS:C0263639" @@ -84371,13 +82287,13 @@ MONDO:0003954 "SCTID:6331000" MONDO:0060711 "UMLS:CN244943" MONDO:0060711 "OMIM:617988" MONDO:0010747 "SCTID:698279003" -MONDO:0010747 "Orphanet:53351" -MONDO:0010747 "GARD:0010533" -MONDO:0010747 "MESH:C564048" MONDO:0010747 "NCIT:C126330" +MONDO:0010747 "ICD10CM:G24.1" MONDO:0010747 "UMLS:C1839130" +MONDO:0010747 "GARD:0010533" MONDO:0010747 "DOID:0090057" -MONDO:0010747 "ICD10:G24.1" +MONDO:0010747 "Orphanet:53351" +MONDO:0010747 "MESH:C564048" MONDO:0010747 "OMIM:314250" MONDO:0044687 "Orphanet:499085" MONDO:0010923 "MESH:C563453" @@ -84385,9 +82301,9 @@ MONDO:0010923 "UMLS:C1833453" MONDO:0010923 "Orphanet:521305" MONDO:0010923 "OMIM:600706" NCBITaxon:552467 "GC_ID:1" +MONDO:0015056 "ICD10CM:T78.3" MONDO:0015056 "UMLS:CN197348" MONDO:0015056 "Orphanet:100056" -MONDO:0015056 "ICD10:T78.3" MONDO:0004377 "DOID:7840" MONDO:0004377 "UMLS:C1335311" MONDO:0004377 "NCIT:C28333" @@ -84401,11 +82317,11 @@ HP:0010527 "SNOMEDCT_US:25094008" HP:0010527 "UMLS:C0234505" MONDO:0100468 "OMIM:255300" MONDO:0012382 "SCTID:721236002" +MONDO:0012382 "ICD10CM:E71.3" MONDO:0012382 "Orphanet:71212" MONDO:0012382 "GARD:0009870" MONDO:0012382 "MESH:C535310" MONDO:0012382 "DOID:0070215" -MONDO:0012382 "ICD10:E71.3" MONDO:0012382 "OMIM:609975" MONDO:0012382 "OMIM:231530" MONDO:0012382 "UMLS:C4303473" @@ -84424,13 +82340,13 @@ MONDO:0024881 "ICD9:198.89" MONDO:0024881 "ICD9:199.1" MONDO:0016497 "UMLS:CN201500" MONDO:0016497 "Orphanet:231445" -MONDO:0016497 "ICD10:G61.0" +MONDO:0016497 "ICD10CM:G61.0" MONDO:0008893 "Orphanet:1308" MONDO:0008893 "OMIM:211750" MONDO:0008893 "UMLS:C0796095" MONDO:0008893 "SCTID:715409005" +MONDO:0008893 "ICD10CM:Q87.8" MONDO:0008893 "MESH:C537418" -MONDO:0008893 "ICD10:Q87.8" MONDO:0008893 "GARD:0005978" MONDO:0008893 "DOID:0111581" MONDO:0009535 "UMLS:C1855475" @@ -84446,32 +82362,32 @@ MONDO:0013448 "OMIM:613828" MONDO:0014561 "UMLS:C4225393" MONDO:0014561 "SCTID:764860006" MONDO:0014561 "EFO:0009014" +MONDO:0014561 "ICD10CM:E71.1" MONDO:0014561 "DOID:0110003" -MONDO:0014561 "ICD10:E71.1" MONDO:0014561 "Orphanet:445038" MONDO:0014561 "OMIM:616271" MONDO:0017725 "UMLS:CN203621" MONDO:0017725 "Orphanet:309185" -MONDO:0017725 "ICD10:E75.0" +MONDO:0017725 "ICD10CM:E75.0" MONDO:0054742 "UMLS:CN807948" MONDO:0054742 "DOID:0111464" MONDO:0054742 "OMIM:617873" NCBITaxon:4070 "GC_ID:1" +MONDO:0016505 "ICD10CM:C74.0" MONDO:0016505 "UMLS:CN226945" MONDO:0016505 "NCIT:C48451" +MONDO:0016505 "ICD10CM:E26.0" MONDO:0016505 "MedDRA:10056950" MONDO:0016505 "MESH:D018246" MONDO:0016505 "Orphanet:231625" -MONDO:0016505 "ICD10:E26.0" MONDO:0016505 "EFO:1000015" MONDO:0016505 "UMLS:C1706762" -MONDO:0016505 "ICD10:C74.0" NCBITaxon:121221 "GC_ID:1" MONDO:0020168 "Orphanet:98577" MONDO:0010279 "OMIM:300244" MONDO:0010279 "MESH:C564554" MONDO:0010279 "UMLS:C1846129" -MONDO:0010279 "ICD10:Q87.2" +MONDO:0010279 "ICD10CM:Q87.2" MONDO:0010279 "Orphanet:88630" HP:0002094 "SNOMEDCT_US:267036007" HP:0002094 "MSH:D004417" @@ -84480,27 +82396,27 @@ HP:0002094 "UMLS:C0013404" MONDO:0014889 "OMIM:617054" MONDO:0014889 "Orphanet:497906" MONDO:0014889 "UMLS:C4310743" -MONDO:0017079 "ICD10:Q01.2" +MONDO:0017079 "ICD10CM:Q01.8" MONDO:0017079 "GARD:0003473" MONDO:0017079 "NCIT:C124517" MONDO:0017079 "SCTID:52330001" MONDO:0017079 "Orphanet:268820" -MONDO:0017079 "ICD10:Q01.1" -MONDO:0017079 "ICD10:Q01.9" -MONDO:0017079 "ICD10:Q01.0" -MONDO:0017079 "ICD10:Q01.8" +MONDO:0017079 "ICD10CM:Q01.2" +MONDO:0017079 "ICD10CM:Q01.1" +MONDO:0017079 "ICD10CM:Q01.0" MONDO:0017079 "UMLS:C0009694" +MONDO:0017079 "ICD10CM:Q01.9" MONDO:0018153 "Orphanet:35687" MONDO:0018153 "UMLS:C0878675" MONDO:0018153 "ONCOTREE:ECD" MONDO:0018153 "MESH:D031249" +MONDO:0018153 "ICD10CM:D76.3" MONDO:0018153 "EFO:1000926" MONDO:0018153 "SCTID:699537002" MONDO:0018153 "DOID:4329" MONDO:0018153 "GARD:0006369" MONDO:0018153 "NCIT:C53972" MONDO:0018153 "ICD9:277.89" -MONDO:0018153 "ICD10:D76.3" MONDO:0018153 "MedDRA:10060801" MONDO:0008264 "UMLS:CN536252" MONDO:0008264 "UMLS:C4511620" @@ -84513,18 +82429,18 @@ MONDO:0008264 "MEDGEN:358137" MONDO:0008264 "Orphanet:34149" MONDO:0008264 "SCTID:444699000" MONDO:0008264 "MEDGEN:881357" -MONDO:0008264 "ICD10:Q61.5" MONDO:0008264 "OMIM:609886" MONDO:0008264 "MESH:C536137" MONDO:0008264 "OMIM:603860" MONDO:0015767 "GARD:0006091" MONDO:0015767 "Orphanet:1738" -MONDO:0015767 "ICD10:Q92.2" MONDO:0015767 "MESH:C537643" +MONDO:0015767 "ICD10CM:Q92.2" MONDO:0700092 "SCTID:700364009" MONDO:0700092 "NCIT:C1535926" MONDO:0700092 "MedDRA:C1535926" MONDO:0700092 "UMLS:C1535926" +MONDO:0700092 "ICD10CM:F01-F99" MONDO:0700092 "MESH:D065886" MONDO:0001606 "UMLS:C1332884" MONDO:0001606 "DOID:12969" @@ -84542,7 +82458,6 @@ MONDO:0003806 "EFO:1000588" MONDO:0003806 "ICDO:8336/0" MONDO:0003806 "NCIT:C6846" MONDO:0003806 "DOID:6203" -MONDO:0021162 "ICD10:E67.1" MONDO:0021162 "UMLS:C0154271" MONDO:0021162 "ICD9:278.3" MONDO:0021162 "NCIT:C26963" @@ -84559,26 +82474,25 @@ MONDO:0002637 "MESH:D015614" MONDO:0007149 "OMIM:107750" MONDO:0007149 "UMLS:C1862555" MONDO:0017946 "Orphanet:324708" +MONDO:0017946 "ICD10EXP:I68.0*" MONDO:0017946 "OMIM:605714" -MONDO:0017946 "ICD10:I68.0*" -MONDO:0017946 "ICD10:E85.4+" -MONDO:0020355 "ICD10:Q12.2" +MONDO:0017946 "ICD10EXP:E85.4+" MONDO:0020355 "Orphanet:98943" MONDO:0020355 "GARD:0001433" MONDO:0007325 "OMIM:118750" MONDO:0007325 "UMLS:C1861569" MONDO:0007325 "MESH:C566127" -MONDO:0009380 "Orphanet:234" +MONDO:0009380 "OMIM:237500" MONDO:0009380 "GARD:0006289" +MONDO:0009380 "UMLS:C0022350" MONDO:0009380 "MedDRA:10013800" MONDO:0009380 "MESH:D007566" MONDO:0009380 "GARD:0002793" -MONDO:0009380 "OMIM:237500" +MONDO:0009380 "ICD10CM:E80.6" +MONDO:0009380 "NCIT:C34741" MONDO:0009380 "DOID:12308" -MONDO:0009380 "ICD10:E80.6" MONDO:0009380 "SCTID:44553005" -MONDO:0009380 "NCIT:C34741" -MONDO:0009380 "UMLS:C0022350" +MONDO:0009380 "Orphanet:234" MONDO:0036595 "EFO:1000429" MONDO:0036595 "UMLS:C0003810" MONDO:0036595 "NCIT:C2880" @@ -84597,7 +82511,6 @@ MONDO:0015954 "Orphanet:183509" NCBITaxon:555280 "GC_ID:1" MONDO:0008485 "DOID:0111556" MONDO:0008485 "OMIM:184500" -MONDO:0008485 "ICD10:L72.2" MONDO:0008485 "GARD:0005003" MONDO:0008485 "Orphanet:841" MONDO:0008485 "SCTID:109433009" @@ -84618,7 +82531,7 @@ MONDO:0005367 "SCTID:231477003" MONDO:0005367 "NCIT:C34694" MONDO:0014177 "UMLS:C3809464" MONDO:0014177 "OMIM:615420" -MONDO:0020404 "ICD10:Q23.8" +MONDO:0020404 "ICD10CM:Q23.8" MONDO:0020404 "ICD9:746.84" MONDO:0020404 "SCTID:41371000119100" MONDO:0020404 "MedDRA:10066802" @@ -84631,10 +82544,10 @@ MONDO:0011611 "MESH:C566989" MONDO:0032581 "OMIM:618177" MONDO:0032581 "DOID:0080393" MONDO:0018528 "SCTID:763315005" +MONDO:0018528 "ICD10CM:G71.2" MONDO:0018528 "Orphanet:424107" -MONDO:0018528 "ICD10:G71.2" +MONDO:0019899 "ICD10CM:Q93.5" MONDO:0019899 "Orphanet:96152" -MONDO:0019899 "ICD10:Q93.5" MONDO:0003369 "NCIT:C6326" MONDO:0003369 "UMLS:C1336940" MONDO:0003369 "DOID:5283" @@ -84643,18 +82556,18 @@ MONDO:0005296 "HP:0010535" MONDO:0005296 "ICD9:780.57" MONDO:0005296 "DOID:0050847" MONDO:0005296 "SCTID:73430006" -MONDO:0005296 "ICD10:G47.3" MONDO:0005296 "SCTID:111489007" MONDO:0005296 "EFO:0003877" MONDO:0005296 "NCIT:C148023" +MONDO:0005296 "ICD10CM:G47.3" MONDO:0005296 "NCIT:C26884" MONDO:0054860 "DOID:0111644" MONDO:0054860 "OMIM:618094" MONDO:0024313 "MESH:D013203" MONDO:0024313 "SCTID:56038003" MONDO:0024313 "NCIT:C35038" -MONDO:0003252 "DOID:5042" MONDO:0003252 "UMLS:C0334618" +MONDO:0003252 "DOID:5042" MONDO:0003252 "NCIT:C4336" MONDO:0003252 "ICDO:9580/3" MONDO:0003252 "ICD9:171.9" @@ -84664,7 +82577,7 @@ HP:0030764 "SNOMEDCT_US:410042009" HP:0030764 "MSH:D009794" MONDO:0000866 "OMIM:268200" MONDO:0000866 "OMIM:160010" -MONDO:0000866 "ICD10:R82.1" +MONDO:0000866 "ICD10CM:R82.1" MONDO:0000866 "OMIM:550500" MONDO:0000866 "MESH:D009212" MONDO:0000866 "DOID:0080108" @@ -84689,11 +82602,11 @@ MONDO:0018715 "UMLS:C0235753" MONDO:0018715 "NCIT:C3841" MONDO:0018715 "Orphanet:458775" MONDO:0013563 "UMLS:C3279775" +MONDO:0013563 "ICD10CM:Q87.8" MONDO:0013563 "Orphanet:280633" MONDO:0013563 "OMIM:614080" MONDO:0013563 "GARD:0012781" MONDO:0013563 "DOID:0080138" -MONDO:0013563 "ICD10:Q87.8" MONDO:0003556 "GARD:0013107" MONDO:0003556 "UMLS:C3896969" MONDO:0003556 "NCIT:C114656" @@ -84716,14 +82629,14 @@ MONDO:0008743 "SCTID:733072002" MONDO:0008743 "Orphanet:3199" MONDO:0020207 "UMLS:CN924920" MONDO:0020207 "Orphanet:98619" +MONDO:0015546 "ICD10CM:Q93.5" MONDO:0015546 "Orphanet:1581" -MONDO:0015546 "ICD10:Q93.5" MONDO:0009254 "ICD9:271.8" MONDO:0009254 "MESH:D005645" MONDO:0009254 "GARD:0006473" MONDO:0009254 "NCIT:C61274" -MONDO:0009254 "ICD10:E77.1" MONDO:0009254 "DOID:14500" +MONDO:0009254 "ICD10CM:E77.1" MONDO:0009254 "Orphanet:349" MONDO:0009254 "OMIM:230000" MONDO:0009254 "UMLS:C0016788" @@ -84740,7 +82653,6 @@ MONDO:0043959 "UMLS:C0221269" MONDO:0042705 "UMLS:C2931457" MONDO:0042705 "GARD:0000149" MONDO:0042705 "MESH:C537244" -MONDO:0001598 "ICD10:K11.8" MONDO:0001598 "SCTID:45517002" MONDO:0001598 "ICD9:527.8" MONDO:0001598 "DOID:12899" @@ -84748,6 +82660,7 @@ MONDO:0001598 "UMLS:C0266995" MONDO:0001598 "NCIT:C3949" MONDO:0008057 "OMIM:160980" MONDO:0008057 "Orphanet:1359" +MONDO:0019171 "ICD10CM:I45.8" MONDO:0019171 "OMIM:192500" MONDO:0019171 "OMIM:220400" MONDO:0019171 "OMIM:611820" @@ -84766,18 +82679,17 @@ MONDO:0019171 "MedDRA:10057926" MONDO:0019171 "OMIM:616249" MONDO:0019171 "OMIM:612347" MONDO:0019171 "Orphanet:768" -MONDO:0019171 "ICD10:I45.8" MONDO:0019171 "OMIM:613485" MONDO:0019171 "OMIM:616247" MONDO:0019171 "OMIMPS:192500" MONDO:0019171 "SCTID:442917000" MONDO:0006745 "GARD:0006339" MONDO:0006745 "NCIT:C8973" -MONDO:0006745 "ICD10:C54.1" MONDO:0006745 "EFO:1000919" MONDO:0006745 "UMLS:C0206630" MONDO:0006745 "SCTID:699356008" MONDO:0006745 "ICDO:8930/3" +MONDO:0006745 "ICD10CM:C54.1" MONDO:0006745 "DOID:4226" MONDO:0006745 "MedDRA:10048397" MONDO:0006745 "UMLS:C2239246" @@ -84787,11 +82699,10 @@ MONDO:0006745 "MESH:D018203" MONDO:0006745 "Orphanet:213711" MONDO:0010390 "Orphanet:1000" MONDO:0010390 "GARD:0000592" -MONDO:0010390 "ICD10:E70.3" +MONDO:0010390 "ICD10CM:E70.3" MONDO:0010390 "OMIM:300650" MONDO:0010390 "UMLS:C1845069" MONDO:0010390 "SCTID:722054007" -MONDO:0003627 "ICD10:I09.89" MONDO:0003627 "ICD9:397.1" MONDO:0003627 "DOID:5748" MONDO:0003627 "SCTID:18687009" @@ -84803,16 +82714,16 @@ MONDO:0044351 "SCTID:52179003" MONDO:0044351 "UMLS:C0276932" MONDO:0016662 "Orphanet:251307" MONDO:0016662 "SCTID:766704005" -MONDO:0016662 "ICD10:I09.2" +MONDO:0016662 "ICD10CM:I09.2" +MONDO:0013784 "ICD10CM:G40.4" MONDO:0013784 "OMIM:614498" MONDO:0013784 "Orphanet:435845" MONDO:0013784 "EFO:0009144" MONDO:0013784 "UMLS:C3281029" -MONDO:0013784 "ICD10:G40.4" NCBITaxon:85604 "GC_ID:1" MONDO:0016150 "Orphanet:207098" MONDO:0018003 "Orphanet:329341" -MONDO:0018003 "ICD10:G13.1" +MONDO:0018003 "ICD10CM:G13.1" MONDO:0031006 "OMIM:619259" MONDO:0011792 "OMIM:607200" MONDO:0011792 "UMLS:C1846632" @@ -84822,13 +82733,12 @@ MONDO:0000458 "UMLS:C3828464" MONDO:0000458 "DOID:0050804" MONDO:0000458 "NCIT:C111692" MONDO:0006932 "MedDRA:10037375" +MONDO:0006932 "ICD10CM:J81" MONDO:0006932 "DOID:11396" MONDO:0006932 "SCTID:19242006" -MONDO:0006932 "ICD10:J81" MONDO:0006932 "MESH:D011654" MONDO:0006932 "UMLS:C0034063" MONDO:0006932 "EFO:1001134" -MONDO:0006932 "ICD10:J81.1" MONDO:0006932 "NCIT:C26868" MONDO:0021402 "NCIT:C4366" MONDO:0021402 "SCTID:95211004" @@ -84851,30 +82761,30 @@ MONDO:0010949 "MESH:C537989" MONDO:0010949 "GARD:0009192" MONDO:0010949 "Orphanet:99936" MONDO:0010949 "SCTID:717008005" +MONDO:0010949 "ICD10CM:G60.0" MONDO:0010949 "OMIM:600882" MONDO:0010949 "DOID:0110159" MONDO:0010949 "UMLS:C1833219" -MONDO:0010949 "ICD10:G60.0" MONDO:0002639 "UMLS:C0751941" MONDO:0002639 "SCTID:80962007" MONDO:0002639 "ICD9:352.2" MONDO:0002639 "DOID:3418" MONDO:0002639 "ICD9:352" -MONDO:0002639 "ICD10:G52" MONDO:0002639 "NCIT:C27211" MONDO:0012601 "OMIM:611016" MONDO:0033571 "OMIM:619030" MONDO:0019678 "UMLS:C1862138" MONDO:0019678 "SCTID:720570007" -MONDO:0019678 "ICD10:Q73.8" +MONDO:0019678 "OMIM:112900" +MONDO:0019678 "ICD10CM:Q73.8" MONDO:0019678 "MESH:C537091" MONDO:0019678 "GARD:0000982" MONDO:0019678 "Orphanet:93389" +MONDO:0017591 "ICD10CM:J84.1" MONDO:0017591 "Orphanet:300564" -MONDO:0017591 "ICD10:J84.1" MONDO:0017591 "UMLS:CN203401" MONDO:0017244 "Orphanet:280794" -MONDO:0017244 "ICD10:Q82.2" +MONDO:0017244 "ICD10CM:Q82.2" MONDO:0008125 "DOID:0080083" MONDO:0008125 "UMLS:C1833909" MONDO:0008125 "OMIM:164800" @@ -84884,15 +82794,14 @@ MONDO:0014366 "UMLS:C4014454" MONDO:0014366 "OMIM:615842" MONDO:0014366 "DOID:0070179" MONDO:0002085 "DOID:1713" -MONDO:0002085 "ICD10:G25.83" MONDO:0002085 "ICD9:333.93" +MONDO:0002085 "ICD10CM:G25.83" MONDO:0002085 "UMLS:C0375200" MONDO:0002085 "SCTID:446995005" MONDO:0004974 "NCIT:C3326" MONDO:0004974 "ICDO:8700/0" MONDO:0004974 "EFO:0000239" MONDO:0004974 "DOID:0050892" -MONDO:0004974 "OMIM:171300" MONDO:0003031 "DOID:4521" MONDO:0003031 "NCIT:C40218" MONDO:0003031 "UMLS:C4289586" @@ -84901,12 +82810,12 @@ MONDO:0005616 "EFO:0006740" MONDO:0005616 "ONCOTREE:LUMEC" MONDO:0005616 "UMLS:C1708778" MONDO:0005616 "DOID:0050932" -MONDO:0000645 "ICD10:D28.2" MONDO:0000645 "MedDRA:10053865" MONDO:0000645 "Orphanet:180237" MONDO:0000645 "NCIT:C4517" MONDO:0000645 "UMLS:C0346190" MONDO:0000645 "DOID:0060111" +MONDO:0000645 "ICD10CM:D28.2" MONDO:0000645 "SCTID:92100009" MONDO:0006548 "UMLS:C0015456" MONDO:0006548 "MESH:D005148" @@ -84923,13 +82832,13 @@ MONDO:0009358 "UMLS:C1856054" MONDO:0030018 "OMIM:618852" MONDO:0019350 "UMLS:CN206031" MONDO:0019350 "OMIM:270970" +MONDO:0019350 "ICD10CM:D58.0" MONDO:0019350 "OMIM:182900" MONDO:0019350 "OMIM:612690" MONDO:0019350 "ICD9:282.0" MONDO:0019350 "UMLS:C0037889" MONDO:0019350 "Orphanet:822" MONDO:0019350 "DOID:12971" -MONDO:0019350 "ICD10:D58.0" MONDO:0019350 "OMIM:612653" MONDO:0019350 "MedDRA:10019904" MONDO:0019350 "GARD:0006639" @@ -84945,17 +82854,14 @@ MONDO:0001073 "DOID:10593" MONDO:0001073 "SCTID:33209009" MONDO:0001073 "UMLS:C0154756" MONDO:0005146 "EFO:0001358" -MONDO:0005146 "ICD10:F43.1" MONDO:0005146 "MESH:D013313" MONDO:0005146 "OMIM:608627" MONDO:0005146 "NIFSTD:birnlex_12679" -MONDO:0005146 "ICD10:F43.10" MONDO:0005146 "SCTID:47505003" MONDO:0005146 "ICD9:309.81" MONDO:0005146 "NCIT:C3389" MONDO:0005146 "DOID:2055" MONDO:0004857 "MESH:D052256" -MONDO:0004857 "ICD10:M77.9" MONDO:0004857 "NCIT:C97141" MONDO:0004857 "SCTID:34840004" MONDO:0004857 "UMLS:C0039503" @@ -84975,7 +82881,7 @@ MONDO:0000960 "DOID:10182" MONDO:0000960 "UMLS:C0011875" MONDO:0000960 "ICD9:443.81" MONDO:0009737 "DOID:0080540" -MONDO:0009737 "ICD10:E77.1" +MONDO:0009737 "ICD10CM:E77.1" MONDO:0009737 "SCTID:35691006" MONDO:0009737 "GARD:0003953" MONDO:0009737 "MESH:C536411" @@ -84988,10 +82894,9 @@ MONDO:0005803 "SCTID:42681006" MONDO:0005803 "EFO:0007318" MONDO:0005803 "OMIMPS:256450" MONDO:0005803 "HP:0000825" -MONDO:0005803 "OMIM:609975" MONDO:0005803 "DOID:13317" MONDO:0005803 "OMIM:601820" -MONDO:0005803 "ICD10:E16.9" +MONDO:0005803 "OMIM:609975" MONDO:0005803 "OMIM:606762" MONDO:0005803 "OMIM:610021" MONDO:0005803 "OMIM:602485" @@ -85004,8 +82909,8 @@ MONDO:0008522 "UMLS:C1861304" MONDO:0008522 "MESH:C566087" MONDO:0008522 "GARD:0007720" MONDO:0008522 "OMIM:186575" +MONDO:0012185 "ICD10CM:Q77.8" MONDO:0012185 "OMIM:609052" -MONDO:0012185 "ICD10:Q77.8" MONDO:0012185 "GARD:0000458" MONDO:0012185 "MESH:C563803" MONDO:0012185 "Orphanet:168555" @@ -85018,23 +82923,23 @@ HP:0011463 "UMLS:C1837352" MONDO:0016536 "OMIM:613011" MONDO:0016536 "Orphanet:238505" MONDO:0016536 "OMIM:615122" -MONDO:0016536 "ICD10:D47.9" +MONDO:0016536 "ICD10CM:D47.9" MONDO:0017610 "OMIM:131800" MONDO:0017610 "GARD:0010752" MONDO:0017610 "MESH:D016110" MONDO:0017610 "UMLS:C0079298" +MONDO:0017610 "ICD10CM:Q81.0" MONDO:0017610 "OMIMPS:131760" MONDO:0017610 "OMIM:131900" MONDO:0017610 "OMIM:131960" MONDO:0017610 "OMIM:601001" MONDO:0017610 "NCIT:C84692" MONDO:0017610 "Orphanet:304" -MONDO:0017610 "ICD10:Q81.0" MONDO:0017610 "DOID:4644" MONDO:0017610 "SCTID:67144006" MONDO:0017610 "OMIM:615425" -MONDO:0017610 "ICD9:757.39" MONDO:0017610 "OMIM:131760" +MONDO:0017610 "ICD9:757.39" MONDO:0020199 "Orphanet:98611" MONDO:0005461 "EFO:0005232" MONDO:0005461 "UMLS:C1153706" @@ -85054,9 +82959,7 @@ MONDO:0008978 "MESH:D002817" MONDO:0008978 "MedDRA:10008747" MONDO:0008978 "HP:0010762" MONDO:0008978 "NCIT:C2947" -MONDO:0008978 "ICD10:C76.7" MONDO:0007661 "DOID:11119" -MONDO:0007661 "ICD10:F95.2" MONDO:0007661 "NCIT:C35078" MONDO:0007661 "MESH:D005879" MONDO:0007661 "EFO:0004895" @@ -85066,7 +82969,7 @@ MONDO:0007661 "SCTID:5158005" MONDO:0007661 "Orphanet:856" MONDO:0007661 "ICD9:307.23" MONDO:0009924 "OMIM:264700" -MONDO:0009924 "ICD10:E55.0" +MONDO:0009924 "ICD10CM:E55.0" MONDO:0009924 "NCIT:C131073" MONDO:0009924 "OMIM:600081" MONDO:0009924 "Orphanet:289157" @@ -85075,8 +82978,8 @@ MONDO:0009924 "SCTID:67049004" NCBITaxon:66225 "GC_ID:1" MONDO:0014774 "OMIM:616792" MONDO:0017140 "OMIM:307000" +MONDO:0017140 "ICD10CM:Q04.8" MONDO:0017140 "UMLS:CN118845" -MONDO:0017140 "ICD10:Q04.8" MONDO:0017140 "Orphanet:275543" MONDO:0017140 "OMIM:303350" MONDO:0017140 "OMIM:304100" @@ -85088,13 +82991,12 @@ MONDO:0008815 "MESH:D056807" MONDO:0008815 "MedDRA:10058299" MONDO:0008815 "UMLS:C0268547" MONDO:0008815 "DOID:14755" -MONDO:0008815 "ICD10:E72.2" MONDO:0008815 "SCTID:41013004" MONDO:0008815 "Orphanet:23" +MONDO:0008815 "ICD10CM:E72.2" MONDO:0008815 "NCIT:C84569" MONDO:0004566 "UMLS:C0032763" MONDO:0004566 "SCTID:80193009" -MONDO:0004566 "ICD10:K91.1" MONDO:0004566 "ICD9:564.2" MONDO:0004566 "DOID:8439" MONDO:0004566 "MESH:D011178" @@ -85125,7 +83027,6 @@ MONDO:0003629 "ONCOTREE:USC" MONDO:0003629 "UMLS:C1336921" MONDO:0001377 "SCTID:60189009" MONDO:0001377 "ICD9:379.21" -MONDO:0001377 "ICD10:H43.81" MONDO:0001377 "DOID:11816" MONDO:0001377 "UMLS:C0155366" MONDO:0009590 "Orphanet:512" @@ -85139,28 +83040,27 @@ MONDO:0010307 "MESH:C564528" MONDO:0010307 "UMLS:C1845860" MONDO:0010307 "OMIM:300355" MONDO:0018581 "Orphanet:438266" +MONDO:0018581 "ICD10CM:G04.8" MONDO:0018581 "UMLS:C1861457" MONDO:0018581 "GARD:0013110" -MONDO:0018581 "ICD10:G04.8" MONDO:0018581 "OMIM:184850" -MONDO:0019912 "ICD10:Q99.8" MONDO:0019912 "SCTID:766239009" +MONDO:0019912 "ICD10CM:Q99.8" MONDO:0019912 "Orphanet:96181" MONDO:0023575 "GARD:0003143" MONDO:0023575 "MESH:C537618" MONDO:0023575 "UMLS:C2931549" +MONDO:0013082 "ICD10CM:Q43.1" MONDO:0013082 "GARD:0002695" MONDO:0013082 "MESH:C538119" MONDO:0013082 "Orphanet:2151" MONDO:0013082 "UMLS:C2751683" -MONDO:0013082 "ICD10:Q43.1" MONDO:0010696 "Orphanet:660" MONDO:0010696 "UMLS:C3275625" MONDO:0010696 "OMIM:310980" MONDO:0004753 "ICD9:378.6" -MONDO:0004753 "ICD10:H50.60" MONDO:0004753 "UMLS:C0152223" -MONDO:0004753 "ICD10:H50.6" +MONDO:0004753 "ICD10CM:H50.6" MONDO:0004753 "DOID:9306" MONDO:0004753 "ICD9:378.60" MONDO:0004753 "SCTID:5371001" @@ -85181,11 +83081,11 @@ MONDO:0011642 "MESH:C563249" MONDO:0006606 "NCIT:C85057" MONDO:0006606 "SCTID:95323007" MONDO:0006606 "Orphanet:352763" -MONDO:0006606 "ICD10:M34.8" MONDO:0006606 "UMLS:C0036413" MONDO:0006606 "DOID:3140" MONDO:0006606 "EFO:1000762" MONDO:0006606 "GARD:0005975" +MONDO:0006606 "ICD10CM:M34.8" MONDO:0006606 "MESH:D012592" MONDO:0044657 "Orphanet:497757" MONDO:0044657 "OMIM:617017" @@ -85214,51 +83114,50 @@ MONDO:0021404 "UMLS:C0264255" MONDO:0021404 "NCIT:C3933" MONDO:0016011 "DOID:0050665" MONDO:0016011 "MedDRA:10016845" -MONDO:0016011 "ICD10:Q86.0" MONDO:0016011 "DOID:0050667" MONDO:0016011 "Orphanet:1915" MONDO:0016011 "SCTID:205788004" MONDO:0016011 "UMLS:C0015923" MONDO:0016011 "NCIT:C84713" MONDO:0030268 "OMIM:619317" +MONDO:0019528 "ICD10CM:K75.8" MONDO:0019528 "Orphanet:90003" -MONDO:0019528 "ICD10:K75.8" MONDO:0012016 "OMIM:608354" +MONDO:0012016 "ICD10CM:Q27.3" MONDO:0012016 "ICD9:747.69" MONDO:0012016 "Orphanet:137667" MONDO:0012016 "OMIMPS:608354" MONDO:0012016 "GARD:0011904" MONDO:0012016 "MESH:C564254" MONDO:0012016 "SCTID:703533007" -MONDO:0012016 "ICD10:Q27.3" MONDO:0007210 "UMLS:C1862171" MONDO:0007210 "MESH:C566206" MONDO:0007210 "OMIM:112370" MONDO:0004824 "UMLS:C0276682" -MONDO:0004824 "ICD10:P37.5" MONDO:0004824 "NCIT:C116810" MONDO:0004824 "SCTID:414821002" MONDO:0004824 "ICD9:771.7" +MONDO:0004824 "ICD10CM:P37.5" MONDO:0004824 "DOID:9577" MONDO:0020617 "OMIM:111380" MONDO:0010728 "SCTID:734173003" +MONDO:0010728 "ICD10CM:Q82.8" MONDO:0010728 "Orphanet:3134" MONDO:0010728 "OMIM:312830" MONDO:0010728 "GARD:0000247" MONDO:0010728 "MESH:C536625" -MONDO:0010728 "ICD10:Q82.8" MONDO:0010728 "UMLS:C1839321" MONDO:0016467 "SCTID:36871005" MONDO:0016467 "Orphanet:2305" MONDO:0016467 "MESH:C535670" MONDO:0016467 "NCIT:C98929" -MONDO:0016467 "ICD10:Q86.8" +MONDO:0016467 "ICD10CM:Q86.8" MONDO:0016467 "GARD:0000517" MONDO:0011863 "OMIM:607592" NCBITaxon:31245 "GC_ID:1" -MONDO:0017413 "EFO:0002319" +MONDO:0017413 "ICD10CM:Q74.8" MONDO:0017413 "Orphanet:294049" -MONDO:0017413 "ICD10:Q74.8" +MONDO:0017413 "EFO:0002319" MONDO:0017413 "UMLS:CN203163" MONDO:0015252 "GARD:0003482" MONDO:0015252 "Orphanet:1236" @@ -85269,23 +83168,22 @@ MONDO:0012374 "UMLS:C1864965" MONDO:0012374 "GARD:0009893" MONDO:0019843 "UMLS:CN206787" MONDO:0019843 "Orphanet:95617" -NCBITaxon:34621 "GC_ID:1" MONDO:0013457 "DOID:0110189" MONDO:0013457 "OMIM:613843" -MONDO:0013457 "ICD10:H35.5" MONDO:0013457 "GARD:0010884" MONDO:0013457 "UMLS:C3151206" +NCBITaxon:34621 "GC_ID:1" MONDO:0014403 "OMIM:615925" MONDO:0014403 "SCTID:766817004" MONDO:0014403 "Orphanet:314811" -MONDO:0014403 "ICD10:E34.3" +MONDO:0014403 "ICD10CM:E34.3" MONDO:0018646 "UMLS:C0566602" MONDO:0018646 "NCIT:C4828" MONDO:0018646 "EFO:0004268" +MONDO:0018646 "ICD10CM:K83.0" MONDO:0018646 "DOID:14268" MONDO:0018646 "HP:0030991" MONDO:0018646 "Orphanet:447771" -MONDO:0018646 "ICD10:K83.0" MONDO:0018646 "UMLS:C0008313" MONDO:0018646 "SCTID:235917005" MONDO:0009527 "NCIT:C126558" @@ -85296,24 +83194,22 @@ MONDO:0009527 "Orphanet:535453" MONDO:0009527 "OMIM:246650" MONDO:0009527 "MESH:C535904" MONDO:0018854 "UMLS:C4510896" +MONDO:0018854 "ICD10CM:D65" MONDO:0018854 "Orphanet:49566" MONDO:0018854 "MedDRA:10037556" -MONDO:0018854 "ICD10:D65" MONDO:0018854 "SCTID:725157006" MONDO:0018854 "UMLS:CN205163" MONDO:0004369 "ICD9:590.9" MONDO:0004369 "ICD9:590" -MONDO:0004369 "ICD10:N15.9" MONDO:0004369 "DOID:782" MONDO:0033948 "Orphanet:528663" MONDO:0005311 "ICD9:440" MONDO:0005311 "NCIT:C35771" MONDO:0005311 "NCIT:C35768" MONDO:0005311 "MESH:D050197" -MONDO:0005311 "ICD10:I70" MONDO:0005311 "EFO:0003914" +MONDO:0005311 "ICD10CM:I70" MONDO:0005311 "ICD9:440.8" -MONDO:0005311 "ICD10:I25.1" MONDO:0005311 "DOID:1936" MONDO:0005311 "SCTID:441574008" HP:0040006 "UMLS:C4022499" @@ -85330,18 +83226,17 @@ MONDO:0004206 "DOID:7388" HP:0005293 "UMLS:C0042485" HP:0005293 "SNOMEDCT_US:20696009" HP:0005293 "MSH:D014689" +MONDO:0003009 "ICD10CM:E26" MONDO:0003009 "OMIM:613677" MONDO:0003009 "MESH:D006929" MONDO:0003009 "NCIT:C113213" MONDO:0003009 "UMLS:C0020428" MONDO:0003009 "SCTID:88213004" -MONDO:0003009 "OMIM:605635" MONDO:0003009 "ICD9:255.1" -MONDO:0003009 "DOID:446" +MONDO:0003009 "OMIM:605635" MONDO:0003009 "ICD9:255.10" -MONDO:0003009 "ICD10:E26" +MONDO:0003009 "DOID:446" MONDO:0003009 "Orphanet:235936" -MONDO:0003009 "ICD10:E26.9" CL:0000353 "FMA:72551" CL:0000353 "BTO:0001473" MONDO:0021038 "UMLS:C3536893" @@ -85355,17 +83250,16 @@ MONDO:0002293 "SCTID:254766004" MONDO:0002293 "NCIT:C4481" MONDO:0002293 "DOID:2425" MONDO:0020364 "OMIM:609140" -MONDO:0020364 "ICD10:H18.5" MONDO:0020364 "OMIMPS:122000" MONDO:0020364 "Orphanet:98973" MONDO:0020364 "UMLS:CN239252" MONDO:0020364 "OMIM:609141" MONDO:0020364 "OMIM:122000" MONDO:0020364 "DOID:0060457" +MONDO:0020364 "ICD10CM:H18.5" MONDO:0005439 "OMIM:143890" MONDO:0005439 "OMIM:144010" MONDO:0005439 "SCTID:398036000" -MONDO:0005439 "ICD10:E78.0" MONDO:0005439 "OMIM:603776" MONDO:0005439 "OMIMPS:143890" MONDO:0005439 "UMLS:CN118841" @@ -85388,27 +83282,27 @@ HP:0002157 "MSH:D053099" MONDO:0032841 "OMIM:618632" MONDO:0015431 "UMLS:CN037257" MONDO:0015431 "Orphanet:1438" -MONDO:0015431 "ICD10:Q93.2" MONDO:0015431 "SCTID:86997002" +MONDO:0015431 "ICD10CM:Q93.2" MONDO:0015431 "GARD:0001322" MONDO:0015431 "UMLS:C0265438" MONDO:0015431 "MESH:C538086" MONDO:0019173 "ICD9:071" MONDO:0019173 "MESH:D011818" -MONDO:0019173 "ICD10:A82.0" -MONDO:0019173 "ICD10:A82.9" +MONDO:0019173 "ICD10CM:A82.0" +MONDO:0019173 "ICD10CM:A82.1" MONDO:0019173 "UMLS:C0034494" MONDO:0019173 "Orphanet:770" -MONDO:0019173 "ICD10:A82.1" +MONDO:0019173 "ICD10CM:A82" MONDO:0019173 "GARD:0007516" MONDO:0019173 "MedDRA:10037742" -MONDO:0019173 "ICD10:A82" MONDO:0019173 "NCIT:C28182" MONDO:0019173 "DOID:11260" +MONDO:0019173 "ICD10CM:A82.9" MONDO:0019173 "SCTID:14168008" MONDO:0021396 "ICD9:624.6" MONDO:0021396 "NCIT:C3978" -MONDO:0021396 "ICD10:N84.3" +MONDO:0021396 "ICD10CM:N84.3" MONDO:0021396 "SCTID:57158005" MONDO:0021396 "UMLS:C0269218" NCBITaxon:1870884 "PMID:27902176" @@ -85417,8 +83311,6 @@ NCBITaxon:1870884 "GC_ID:11" MONDO:0001227 "SCTID:89723004" MONDO:0001227 "UMLS:C0395849" MONDO:0001227 "ICD9:384.1" -MONDO:0001227 "ICD10:H73.1" -MONDO:0001227 "ICD10:H73.10" MONDO:0001227 "DOID:11217" MONDO:0002301 "UMLS:C1333646" MONDO:0002301 "SCTID:707356001" @@ -85427,21 +83319,21 @@ MONDO:0002301 "NCIT:C6067" MONDO:0021225 "UMLS:C0042162" MONDO:0021225 "NCIT:C3436" MONDO:0006043 "ONCOTREE:MBC" -MONDO:0006043 "ICD10:C50.4" -MONDO:0006043 "ICD10:C50.5" +MONDO:0006043 "ICD10CM:C50.5" +MONDO:0006043 "ICD10CM:C50.0" +MONDO:0006043 "ICD10CM:C50.6" MONDO:0006043 "EFO:1000040" -MONDO:0006043 "ICD10:C50.2" MONDO:0006043 "GARD:0010804" MONDO:0006043 "UMLS:C1334708" -MONDO:0006043 "ICD10:C50.8" -MONDO:0006043 "ICD10:C50.3" +MONDO:0006043 "ICD10CM:C50.4" +MONDO:0006043 "ICD10CM:C50.8" MONDO:0006043 "NCIT:C5164" -MONDO:0006043 "ICD10:C50.6" +MONDO:0006043 "ICD10CM:C50.3" +MONDO:0006043 "ICD10CM:C50.1" MONDO:0006043 "SCTID:763479005" MONDO:0006043 "Orphanet:213531" -MONDO:0006043 "ICD10:C50.0" +MONDO:0006043 "ICD10CM:C50.2" MONDO:0006043 "DOID:4680" -MONDO:0006043 "ICD10:C50.1" NCBITaxon:813 "PMID:8347519" NCBITaxon:813 "PMID:10319462" NCBITaxon:813 "PMID:10192388" @@ -85450,23 +83342,24 @@ NCBITaxon:813 "PMID:8102247" MONDO:0014169 "OMIM:615402" MONDO:0014169 "Orphanet:241" MONDO:0014169 "UMLS:C3809394" -MONDO:0018184 "ICD10:C16.9" MONDO:0018184 "UMLS:CN204677" MONDO:0018184 "Orphanet:36273" MONDO:0018184 "SCTID:721629005" +MONDO:0018184 "ICD10CM:C16.9" MONDO:0030916 "UMLS:CN671930" MONDO:0030916 "DOID:0080233" MONDO:0030916 "OMIM:617787" MONDO:0004051 "DOID:6958" MONDO:0004051 "NCIT:C5630" MONDO:0004051 "UMLS:C1332232" +MONDO:0016872 "ICD10CM:Q93.5" MONDO:0016872 "Orphanet:261796" -MONDO:0016872 "ICD10:Q93.5" MONDO:0022798 "GARD:0001423" HP:0002797 "SNOMEDCT_US:30425001" HP:0002797 "MSH:D010014" HP:0002797 "SNOMEDCT_US:203522001" HP:0002797 "UMLS:C0221204" +MONDO:0008681 "ICD10CM:Q87.8" MONDO:0008681 "GARD:0005528" MONDO:0008681 "OMIM:612469" MONDO:0008681 "NCIT:C3718" @@ -85476,11 +83369,8 @@ MONDO:0008681 "GARD:0001732" MONDO:0008681 "OMIM:194072" MONDO:0008681 "Orphanet:893" MONDO:0008681 "SCTID:715215007" -MONDO:0008681 "ICD10:Q87.8" MONDO:0008681 "UMLS:C0206115" MONDO:0008681 "UMLS:C2931803" -MONDO:0001542 "ICD10:G57.30" -MONDO:0001542 "ICD10:G57.3" MONDO:0001542 "DOID:12527" MONDO:0001542 "ICD9:355.3" MONDO:0001542 "UMLS:C0270909" @@ -85503,19 +83393,19 @@ MONDO:0030047 "OMIM:618891" MONDO:0003096 "NCIT:C6555" MONDO:0003096 "UMLS:C1333265" MONDO:0003096 "DOID:469" +MONDO:0023094 "GARD:0010757" +MONDO:0023094 "SCTID:410041002" +MONDO:0023094 "ICD9:270.2" +MONDO:0023094 "MESH:C531762" MONDO:0010024 "UMLS:C0432198" -MONDO:0010024 "ICD10:Q77.2" MONDO:0010024 "SCTID:254052001" MONDO:0010024 "GARD:0004832" +MONDO:0010024 "ICD10CM:Q77.2" MONDO:0010024 "ICD9:756.9" MONDO:0010024 "DOID:9249" MONDO:0010024 "MESH:C537599" MONDO:0010024 "Orphanet:93268" MONDO:0010024 "OMIM:269860" -MONDO:0023094 "GARD:0010757" -MONDO:0023094 "SCTID:410041002" -MONDO:0023094 "ICD9:270.2" -MONDO:0023094 "MESH:C531762" MONDO:0013247 "UMLS:C3150652" MONDO:0013247 "Orphanet:3337" MONDO:0013247 "OMIM:613388" @@ -85539,8 +83429,8 @@ MONDO:0013849 "Orphanet:2512" MONDO:0005500 "OMIMPS:212065" MONDO:0005500 "DOID:0050570" MONDO:0005500 "EFO:0005545" -MONDO:0007700 "ICD10:E70.2" MONDO:0007700 "Orphanet:2118" +MONDO:0007700 "ICD10CM:E70.2" MONDO:0007700 "DOID:0111362" MONDO:0007700 "OMIM:140350" MONDO:0007700 "MESH:C535845" @@ -85556,17 +83446,16 @@ MONDO:0013626 "OMIM:616106" MONDO:0013626 "OMIM:614204" MONDO:0013626 "GARD:0012819" MONDO:0013626 "NCIT:C119057" -MONDO:0013626 "ICD10:L40.2" MONDO:0013626 "UMLS:CN226196" MONDO:0013626 "UMLS:CN199965" -MONDO:0013626 "SCTID:238612002" +MONDO:0013626 "ICD10CM:L40.1" MONDO:0013626 "Orphanet:404546" MONDO:0013626 "ICD9:696.1" MONDO:0013626 "Orphanet:247353" MONDO:0013626 "Orphanet:163931" MONDO:0013626 "DOID:0080474" MONDO:0013626 "SCTID:83839005" -MONDO:0013626 "ICD10:L40.1" +MONDO:0013626 "ICD10CM:L40.2" NCBITaxon:1760 "PMID:28840812" NCBITaxon:1760 "PMID:19244447" NCBITaxon:1760 "PMID:11155976" @@ -85580,7 +83469,6 @@ MONDO:0011465 "DOID:4279" MONDO:0011465 "NCIT:C27540" MONDO:0011465 "OMIM:604451" MONDO:0011465 "UMLS:C1304297" -MONDO:0001971 "ICD10:J67.0" MONDO:0001971 "SCTID:18690003" MONDO:0001971 "Orphanet:99906" MONDO:0001971 "DOID:14453" @@ -85591,10 +83479,10 @@ MONDO:0001971 "NCIT:C34605" MONDO:0001971 "GARD:0006427" MONDO:0007874 "OMIM:150230" MONDO:0007874 "UMLS:C0023003" -MONDO:0007874 "ICD10:Q87.8" MONDO:0007874 "GARD:0007801" MONDO:0007874 "MedDRA:10050638" MONDO:0007874 "MESH:D015826" +MONDO:0007874 "ICD10CM:Q87.8" MONDO:0007874 "Orphanet:502" MONDO:0007874 "DOID:4998" MONDO:0007874 "ICD9:759.89" @@ -85612,18 +83500,18 @@ MONDO:0017049 "UMLS:CN202399" MONDO:0017049 "OMIM:616286" MONDO:0020260 "Orphanet:98690" MONDO:0020260 "UMLS:CN207074" -MONDO:0006941 "ICD10:A25.9" +MONDO:0006941 "ICD10CM:A25.0" MONDO:0006941 "GARD:0009557" MONDO:0006941 "MedDRA:10037904" MONDO:0006941 "EFO:1001144" +MONDO:0006941 "ICD10CM:A25.9" MONDO:0006941 "UMLS:C0034686" -MONDO:0006941 "ICD10:A25.0" MONDO:0006941 "ICD9:026.9" MONDO:0006941 "MESH:D011906" MONDO:0006941 "NCIT:C34971" MONDO:0006941 "Orphanet:31205" MONDO:0006941 "SCTID:1685005" -MONDO:0006941 "ICD10:A25.1" +MONDO:0006941 "ICD10CM:A25.1" MONDO:0002692 "UMLS:C0037198" MONDO:0002692 "MESH:D012851" MONDO:0002692 "DOID:3572" @@ -85638,6 +83526,9 @@ MONDO:0043468 "UMLS:C0001145" MONDO:0043468 "SCTID:238746008" MONDO:0043468 "NCIT:C34346" MONDO:0043468 "MESH:D000153" +MONDO:0100491 "ICD10:L40.1" +MONDO:0100491 "UMLS:C0343055" +MONDO:0100491 "SCTID:238612002" MONDO:0021340 "ICD9:695.89" MONDO:0021340 "SCTID:58759008" MONDO:0021340 "MESH:D007402" @@ -85650,8 +83541,8 @@ MONDO:0017236 "SCTID:236392004" MONDO:0017236 "NCIT:C35264" MONDO:0017236 "MedDRA:10018378" MONDO:0017236 "Orphanet:280569" -MONDO:0017236 "ICD10:N01" MONDO:0017236 "ICD9:582.4" +MONDO:0017236 "ICD10CM:N01" MONDO:0015924 "GARD:0007501" MONDO:0015924 "SCTID:11399002" MONDO:0015924 "Orphanet:182090" @@ -85661,13 +83552,13 @@ MONDO:0015924 "UMLS:CN200519" MONDO:0019023 "GARD:0007842" MONDO:0019023 "SCTID:397012002" MONDO:0019023 "ONCOTREE:CMCD" +MONDO:0019023 "ICD10CM:Q82.2" MONDO:0019023 "OMIM:154800" MONDO:0019023 "DOID:3663" MONDO:0019023 "MESH:D034701" MONDO:0019023 "UMLS:C1136033" MONDO:0019023 "HP:0200151" MONDO:0019023 "Orphanet:66646" -MONDO:0019023 "ICD10:Q82.2" MONDO:0019023 "NCIT:C7137" MONDO:0019023 "EFO:1000886" MONDO:0019023 "ICDO:9740/1" @@ -85675,19 +83566,18 @@ MONDO:0023272 "GARD:0002545" MONDO:0015278 "NCIT:C43298" MONDO:0015278 "SCTID:715414009" MONDO:0015278 "OMIM:613348" -MONDO:0015278 "ICD10:C25" MONDO:0015278 "MESH:C535837" MONDO:0015278 "OMIM:613347" MONDO:0015278 "OMIM:606856" MONDO:0015278 "OMIM:260350" MONDO:0015278 "UMLS:C2931038" +MONDO:0015278 "ICD10CM:C25" MONDO:0015278 "Orphanet:1333" MONDO:0015278 "GARD:0004206" MONDO:0015278 "UMLS:C0235974" MONDO:0015278 "OMIM:614320" MONDO:0001615 "SCTID:60548004" MONDO:0001615 "NCIT:C34590" -MONDO:0001615 "ICD10:B30.0" MONDO:0001615 "ICD9:077.1" MONDO:0001615 "DOID:13014" MONDO:0001615 "UMLS:C0014493" @@ -85699,25 +83589,25 @@ MONDO:0014912 "Orphanet:500062" MONDO:0014912 "GARD:0013198" MONDO:0019210 "ONCOTREE:MCC" MONDO:0019210 "MESH:D015266" +MONDO:0019210 "ICD10CM:C44.7" MONDO:0019210 "Orphanet:79140" MONDO:0019210 "SCTID:253001006" MONDO:0019210 "UMLS:C0007129" MONDO:0019210 "GARD:0009266" MONDO:0019210 "NCIT:C9231" MONDO:0019210 "ICD9:209.36" -MONDO:0019210 "ICD10:C44.6" MONDO:0019210 "ICDO:8247/3" +MONDO:0019210 "ICD10CM:C44.3" MONDO:0019210 "EFO:1001471" -MONDO:0019210 "ICD10:C44.3" -MONDO:0019210 "ICD10:C44.7" +MONDO:0019210 "ICD10CM:C44.6" NCBITaxon:5552 "GC_ID:1" MONDO:0009933 "UMLS:C1849554" -MONDO:0009933 "ICD10:Q33.8" MONDO:0009933 "SCTID:45142002" MONDO:0009933 "OMIM:265300" MONDO:0009933 "Orphanet:2414" MONDO:0009933 "NCIT:C99034" MONDO:0009933 "GARD:0009900" +MONDO:0009933 "ICD10CM:Q33.8" MONDO:0009933 "MESH:C537727" MONDO:0021091 "ICDO:8450/0" MONDO:0021091 "MESH:D018292" @@ -85747,29 +83637,25 @@ MONDO:0019717 "UMLS:CN206622" MONDO:0008807 "UMLS:C0520680" MONDO:0008807 "OMIM:107640" MONDO:0008807 "OMIM:207720" -MONDO:0011057 "SCTID:62914000" -MONDO:0011057 "ICD10:I67.9" -MONDO:0011057 "SCTID:230690007" -MONDO:0011057 "NCIT:C2938" -MONDO:0011057 "MESH:D002561" +MONDO:0011057 "EFO:0003763" +MONDO:0011057 "ICD9:437.9" MONDO:0011057 "MESH:D020521" -MONDO:0011057 "ICD10:I63.9" -MONDO:0011057 "ICD10:I60.I69" -MONDO:0011057 "ICD9:437.8" MONDO:0011057 "OMIM:601367" -MONDO:0011057 "ICD9:434.91" -MONDO:0011057 "ICD10:I60-I69" -MONDO:0011057 "EFO:0003763" MONDO:0011057 "DOID:6713" -MONDO:0011057 "ICD9:430-438.99" -MONDO:0011057 "UMLS:C0007820" +MONDO:0011057 "ICD9:434.91" +MONDO:0011057 "NCIT:C2938" MONDO:0011057 "NCIT:C3390" +MONDO:0011057 "ICD9:437.8" MONDO:0011057 "EFO:0000712" -MONDO:0011057 "ICD9:437.9" +MONDO:0011057 "SCTID:62914000" +MONDO:0011057 "MESH:D002561" +MONDO:0011057 "ICD9:430-438.99" +MONDO:0011057 "ICD10CM:I60-I69" +MONDO:0011057 "SCTID:230690007" +MONDO:0011057 "UMLS:C0007820" MONDO:0002124 "ICD9:375.14" MONDO:0002124 "DOID:1822" MONDO:0002124 "SCTID:75068001" -MONDO:0002124 "ICD10:H04.15" MONDO:0005695 "MESH:D020943" MONDO:0005695 "UMLS:C0752330" MONDO:0005695 "EFO:0007198" @@ -85782,26 +83668,24 @@ MONDO:0001386 "DOID:11832" MONDO:0001386 "UMLS:C0270824" MONDO:0007289 "OMIM:116700" MONDO:0007289 "UMLS:C3805373" -MONDO:0007289 "ICD10:Q12.0" MONDO:0007289 "DOID:0110242" MONDO:0007289 "Orphanet:91492" MONDO:0018856 "Orphanet:49804" +MONDO:0018856 "ICD10EXP:E85.4+" MONDO:0018856 "SCTID:718105008" -MONDO:0018856 "ICD10:E85.4+" -MONDO:0018856 "ICD10:L99.0*" +MONDO:0018856 "ICD10EXP:L99.0*" MONDO:0013628 "Orphanet:247262" MONDO:0013628 "OMIM:614207" MONDO:0013628 "UMLS:C3280153" MONDO:0002332 "NCIT:C35823" MONDO:0002332 "DOID:2529" MONDO:0002332 "ICD9:289.50" -MONDO:0002332 "ICD10:D73.9" MONDO:0002332 "UMLS:C0037997" MONDO:0002332 "MESH:D013158" MONDO:0002332 "SCTID:51244008" MONDO:0002332 "SCTID:58381000" +MONDO:0002332 "ICD10CM:D73" MONDO:0002332 "EFO:0009002" -MONDO:0002332 "ICD10:D73" MONDO:0022330 "GARD:0008155" MONDO:0022330 "MESH:C535315" MONDO:0006074 "SCTID:403902008" @@ -85829,13 +83713,13 @@ HP:0001480 "UMLS:C0016689" HP:0001480 "SNOMEDCT_US:403536009" HP:0001480 "SNOMEDCT_US:699225003" HP:0001480 "MSH:D008548" +MONDO:0019583 "ICD10CM:L98.5" MONDO:0019583 "Orphanet:90398" -MONDO:0019583 "ICD10:L98.5" MONDO:0018386 "Orphanet:399572" MONDO:0018386 "UMLS:CN227334" NCBITaxon:1980442 "GC_ID:1" MONDO:0009263 "GARD:0000400" -MONDO:0009263 "ICD10:Q87.8" +MONDO:0009263 "ICD10CM:Q87.8" MONDO:0009263 "SCTID:721843003" MONDO:0009263 "Orphanet:2067" MONDO:0009263 "OMIM:230740" @@ -85859,7 +83743,7 @@ MONDO:0019466 "GARD:0006943" MONDO:0019466 "ONCOTREE:LYG" MONDO:0019466 "UMLS:C0024307" MONDO:0019466 "ICDO:9766/1" -MONDO:0019466 "ICD10:C83.8" +MONDO:0019466 "ICD10CM:C83.8" MONDO:0019466 "NCIT:C7930" MONDO:0019466 "Orphanet:86869" MONDO:0019466 "SCTID:239940004" @@ -85872,7 +83756,6 @@ MONDO:0015926 "Orphanet:182098" MONDO:0015926 "ICD9:505" MONDO:0015926 "NCIT:C26861" MONDO:0015926 "SCTID:40122008" -MONDO:0015926 "ICD10:J64" MONDO:0015926 "MedDRA:10035653" MONDO:0009450 "MESH:C536287" MONDO:0009450 "Orphanet:244" @@ -85880,53 +83763,53 @@ MONDO:0009450 "SCTID:233665006" MONDO:0009450 "OMIM:242680" MONDO:0009450 "ICD9:759.89" MONDO:0009450 "GARD:0002982" +MONDO:0008894 "ICD10CM:Q87.8" MONDO:0008894 "UMLS:C0796282" MONDO:0008894 "OMIM:211770" MONDO:0008894 "MESH:C537959" MONDO:0008894 "SCTID:722379001" MONDO:0008894 "Orphanet:1375" -MONDO:0008894 "ICD10:Q87.8" -NCBITaxon:555406 "PMID:23020233" -NCBITaxon:555406 "GC_ID:1" -MONDO:0030309 "OMIM:619382" MONDO:0009536 "MESH:C565431" MONDO:0009536 "UMLS:C1855474" MONDO:0009536 "OMIM:247450" +NCBITaxon:555406 "PMID:23020233" +NCBITaxon:555406 "GC_ID:1" MONDO:0013449 "DOID:0110333" MONDO:0013449 "GARD:0010880" MONDO:0013449 "UMLS:C3151192" MONDO:0013449 "OMIM:613829" -MONDO:0013449 "ICD10:H35.5" MONDO:0013449 "Orphanet:65" +MONDO:0030309 "OMIM:619382" MONDO:0003955 "SCTID:708518001" MONDO:0003955 "UMLS:C1334303" MONDO:0003955 "NCIT:C9503" MONDO:0003955 "DOID:6641" MONDO:0060712 "OMIM:617991" MONDO:0060712 "UMLS:CN248510" +MONDO:0010748 "ICD10CM:Q87.8" MONDO:0010748 "Orphanet:3341" MONDO:0010748 "MESH:C536970" MONDO:0010748 "UMLS:C1839129" MONDO:0010748 "OMIM:314300" MONDO:0010748 "GARD:0005230" -MONDO:0010748 "ICD10:Q87.8" MONDO:0005116 "UMLS:CN204440" -MONDO:0005116 "ICD10:M14.8*" +MONDO:0005116 "ICD10CM:K90.81" MONDO:0005116 "SCTID:41545003" -MONDO:0005116 "ICD10:K90.8+" +MONDO:0005116 "ICD10EXP:M14.8*" MONDO:0005116 "UMLS:C0023788" MONDO:0005116 "EFO:0000775" +MONDO:0005116 "ICD10EXP:K90.8+" MONDO:0005116 "ICD9:040.2" MONDO:0005116 "MESH:D008061" MONDO:0005116 "MedDRA:10047931" MONDO:0005116 "Orphanet:3452" MONDO:0005116 "NCIT:C85228" MONDO:0005116 "GARD:0007889" -MONDO:0005116 "ICD10:K90.81" MONDO:0005116 "UMLS:C2930851" MONDO:0005116 "DOID:8476" MONDO:0044688 "Orphanet:499096" MONDO:0010924 "OMIMPS:600721" +MONDO:0010924 "ICD10CM:E72.8" MONDO:0010924 "UMLS:CN233040" MONDO:0010924 "OMIM:600721" MONDO:0010924 "Orphanet:79315" @@ -85935,21 +83818,20 @@ MONDO:0010924 "SCTID:237960000" MONDO:0010924 "OMIM:613657" MONDO:0010924 "DOID:0050575" MONDO:0010924 "GARD:0005661" -MONDO:0010924 "ICD10:E72.8" MONDO:0014914 "UMLS:C4310833" MONDO:0014914 "OMIM:617101" MONDO:0054743 "OMIM:617874" MONDO:0054743 "UMLS:CN818986" -MONDO:0021280 "NCIT:C5938" -MONDO:0021280 "UMLS:C1335363" -MONDO:0021280 "SCTID:423793008" MONDO:0015057 "SCTID:403607004" +MONDO:0015057 "ICD10CM:T78.3" MONDO:0015057 "GARD:0009445" MONDO:0015057 "Orphanet:100057" MONDO:0015057 "UMLS:C1304495" -MONDO:0015057 "ICD10:T78.3" MONDO:0015057 "OMIM:300909" MONDO:0015057 "MESH:C535293" +MONDO:0021280 "NCIT:C5938" +MONDO:0021280 "UMLS:C1335363" +MONDO:0021280 "SCTID:423793008" MONDO:0004378 "UMLS:C1332962" MONDO:0004378 "DOID:7841" MONDO:0004378 "NCIT:C6957" @@ -85959,9 +83841,9 @@ MONDO:0009066 "Orphanet:213" MONDO:0009066 "Orphanet:411634" MONDO:0009066 "SCTID:22830006" MONDO:0009066 "MESH:C562683" +MONDO:0009066 "ICD10EXP:N16.3*" +MONDO:0009066 "ICD10EXP:E72.0+" MONDO:0009066 "OMIM:219900" -MONDO:0009066 "ICD10:E72.0+" -MONDO:0009066 "ICD10:N16.3*" MONDO:0009066 "UMLS:C0268626" MONDO:0013121 "Orphanet:98976" MONDO:0013121 "OMIM:613085" @@ -85973,9 +83855,9 @@ HP:0001072 "UMLS:C0334008" HP:0001072 "MEDDRA:10040936" HP:0001072 "UMLS:C4020878" HP:0001072 "SNOMEDCT_US:69943009" +MONDO:0003040 "ICD10CM:R41.2" MONDO:0003040 "DOID:4543" MONDO:0003040 "NCIT:C34372" -MONDO:0003040 "ICD10:R41.2" MONDO:0003040 "MESH:D000648" NCBITaxon:27829 "GC_ID:1" MONDO:0006557 "DOID:13081" @@ -85986,8 +83868,8 @@ MONDO:0006557 "UMLS:C0685200" MONDO:0100469 "OMIM:301700" MONDO:0024882 "NCIT:C36255" MONDO:0016498 "UMLS:CN201501" +MONDO:0016498 "ICD10CM:G61.0" MONDO:0016498 "Orphanet:231450" -MONDO:0016498 "ICD10:G61.0" MONDO:0015104 "OMIM:176090" MONDO:0015104 "GARD:0007433" MONDO:0015104 "Orphanet:101330" @@ -85999,11 +83881,9 @@ MONDO:0015104 "OMIM:176100" MONDO:0015104 "DOID:3132" MONDO:0015104 "MESH:D017119" MONDO:0015104 "NCIT:C27725" -MONDO:0015104 "ICD10:E80.1" MONDO:0007913 "OMIM:152450" MONDO:0019874 "Orphanet:96074" MONDO:0019874 "SCTID:763276000" -MONDO:0019874 "ICD10:Q92.3" MONDO:0009381 "UMLS:C0400964" MONDO:0009381 "SCTID:235906009" MONDO:0009381 "MESH:C562885" @@ -86017,20 +83897,20 @@ MONDO:0019015 "SCTID:18735004" MONDO:0019015 "HP:0001539" MONDO:0019015 "Orphanet:660" MONDO:0019015 "NCIT:C98997" +MONDO:0019015 "ICD10CM:Q79.2" MONDO:0019015 "ICD9:756.72" MONDO:0019015 "OMIM:310980" MONDO:0019015 "UMLS:C0795690" MONDO:0019015 "MedDRA:10030308" -MONDO:0019015 "ICD10:Q79.2" MONDO:0019015 "DOID:0060327" MONDO:0021366 "NCIT:C4412" MONDO:0021366 "ICD9:239.89" MONDO:0021366 "SCTID:127006003" +MONDO:0020568 "ICD10CM:B87.0" MONDO:0020568 "UMLS:C0027031" MONDO:0020568 "SCTID:240877000" -MONDO:0020568 "ICD10:B87.0" MONDO:0020568 "Orphanet:99983" -MONDO:0016506 "ICD10:E26.8" +MONDO:0016506 "ICD10CM:E26.8" MONDO:0016506 "UMLS:CN201515" MONDO:0016506 "Orphanet:231632" MONDO:0020169 "Orphanet:98578" @@ -86040,18 +83920,17 @@ MONDO:0015790 "OMIM:304900" MONDO:0015790 "HP:0000863" MONDO:0015790 "Orphanet:178029" MONDO:0015790 "GARD:0006015" -MONDO:0015790 "ICD10:E23.2" +MONDO:0015790 "ICD10CM:E23.2" MONDO:0015790 "MedDRA:10068587" MONDO:0011350 "OMIM:603622" MONDO:0011350 "DOID:0110548" MONDO:0011350 "GARD:0009726" -MONDO:0011350 "ICD10:H90.3" MONDO:0014178 "OMIM:615422" MONDO:0014178 "Orphanet:52430" MONDO:0014178 "UMLS:C3809468" MONDO:0014178 "DOID:0111384" MONDO:0020405 "Orphanet:99064" -MONDO:0020405 "ICD10:Q23.8" +MONDO:0020405 "ICD10CM:Q23.8" HP:0012373 "UMLS:C4022924" HP:0001928 "MSH:D006474" HP:0001928 "MSH:D001778" @@ -86067,9 +83946,8 @@ MONDO:0011612 "OMIM:605899" MONDO:0011612 "GARD:0007219" MONDO:0011612 "DOID:9268" MONDO:0011612 "NCIT:C84937" -MONDO:0011612 "ICD10:E72.51" MONDO:0011612 "SCTID:237939006" -MONDO:0011612 "ICD10:E72.5" +MONDO:0011612 "ICD10CM:E72.5" MONDO:0001607 "ICD9:202.46" MONDO:0001607 "SCTID:93145002" MONDO:0001607 "UMLS:C0153831" @@ -86086,12 +83964,11 @@ MONDO:0005297 "ICD9:099.40" MONDO:0005297 "EFO:0003878" MONDO:0005297 "HP:0500006" MONDO:0005297 "SCTID:84619001" -MONDO:0005297 "ICD10:N34.2" MONDO:0016864 "UMLS:CN202209" MONDO:0016864 "Orphanet:261647" -MONDO:0016864 "ICD10:Q87.8" -MONDO:0017947 "ICD10:E85.4+" -MONDO:0017947 "ICD10:I68.0*" +MONDO:0016864 "ICD10CM:Q87.8" +MONDO:0017947 "ICD10EXP:I68.0*" +MONDO:0017947 "ICD10EXP:E85.4+" MONDO:0017947 "Orphanet:324713" MONDO:0017947 "OMIM:605714" MONDO:0020356 "GARD:0001434" @@ -86099,9 +83976,8 @@ MONDO:0020356 "SCTID:9446007" MONDO:0020356 "NCIT:C98879" MONDO:0020356 "Orphanet:98944" MONDO:0020356 "HP:0000612" -MONDO:0020356 "ICD10:Q13.0" -MONDO:0020356 "MedDRA:10052642" MONDO:0020356 "OMIM:120200" +MONDO:0020356 "MedDRA:10052642" MONDO:0002788 "ICDO:9352/1" MONDO:0002788 "DOID:3847" MONDO:0002788 "UMLS:C0431128" @@ -86117,16 +83993,16 @@ MONDO:0012791 "Orphanet:1933" MONDO:0012791 "Orphanet:254803" MONDO:0012791 "DOID:0080124" MONDO:0012791 "MESH:C567624" +MONDO:0012791 "ICD10CM:G71.3" MONDO:0012791 "GARD:0003681" -MONDO:0012791 "ICD10:G71.3" MONDO:0010210 "Orphanet:910" -MONDO:0010210 "ICD10:Q82.1" MONDO:0010210 "Orphanet:276249" MONDO:0010210 "OMIM:278700" MONDO:0010210 "NCIT:C3965" MONDO:0010210 "GARD:0005624" MONDO:0010210 "DOID:0110843" MONDO:0010210 "SCTID:43477006" +MONDO:0010210 "ICD10CM:Q82.1" MONDO:0010210 "UMLS:C0268135" HP:0004368 "UMLS:C4025332" MONDO:0014365 "OMIM:615841" @@ -86144,11 +84020,11 @@ MONDO:0008486 "OMIM:184510" MONDO:0008486 "MESH:C537487" MONDO:0008486 "UMLS:C1866650" MONDO:0008486 "Orphanet:3184" -MONDO:0008486 "ICD10:L72.2" +MONDO:0008486 "ICD10CM:L72.2" MONDO:0018551 "SCTID:398316009" -MONDO:0018551 "ICD10:Q64.4" MONDO:0018551 "Orphanet:431341" MONDO:0018551 "NCIT:C99005" +MONDO:0018551 "ICD10CM:Q64.4" MONDO:0018551 "HP:0010479" MONDO:0018551 "UMLS:CN237552" MONDO:0019119 "Orphanet:71864" @@ -86160,12 +84036,12 @@ MONDO:0001776 "UMLS:C0149525" MONDO:0001776 "DOID:13689" MONDO:0001776 "NCIT:C26936" MONDO:0001776 "ICD9:602.0" -MONDO:0001776 "ICD10:N42.0" +MONDO:0001776 "ICD10CM:N42.0" MONDO:0008744 "GARD:0000588" +MONDO:0008744 "ICD10CM:Q75.8" MONDO:0008744 "MESH:C535967" MONDO:0008744 "Orphanet:2007" MONDO:0008744 "OMIM:203000" -MONDO:0008744 "ICD10:Q75.8" MONDO:0008744 "UMLS:C1859964" MONDO:0021950 "MESH:C538274" MONDO:0021950 "GARD:0009461" @@ -86179,12 +84055,12 @@ MONDO:0024314 "UMLS:C0242723" MONDO:0024314 "MESH:D018512" MONDO:0008058 "MESH:C563535" MONDO:0008058 "OMIM:160990" -MONDO:0008058 "ICD10:G71.2" MONDO:0008058 "SCTID:764525006" MONDO:0008058 "GARD:0011906" MONDO:0008058 "UMLS:C1834418" MONDO:0008058 "DOID:0080103" MONDO:0008058 "Orphanet:171886" +MONDO:0008058 "ICD10CM:G71.2" MONDO:0012909 "UMLS:C2676231" MONDO:0012909 "OMIM:612447" MONDO:0012909 "MESH:C567306" @@ -86197,11 +84073,11 @@ MONDO:0006746 "MedDRA:10014800" MONDO:0006746 "NCIT:C34585" MONDO:0008673 "SCTID:277807007" MONDO:0008673 "ICD9:520.8" -MONDO:0008673 "ICD10:Q75.4" MONDO:0008673 "MESH:C536695" MONDO:0008673 "GARD:0000497" MONDO:0008673 "OMIM:193530" MONDO:0008673 "DOID:0111571" +MONDO:0008673 "ICD10CM:Q75.4" MONDO:0008673 "Orphanet:952" MONDO:0008673 "UMLS:C0457013" HP:0010528 "MSH:D020238" @@ -86210,13 +84086,13 @@ HP:0010528 "UMLS:C0234512" MONDO:0015222 "UMLS:CN226638" MONDO:0015222 "Orphanet:108995" MONDO:0016780 "UMLS:CN202036" +MONDO:0016780 "ICD10CM:Q93.5" MONDO:0016780 "Orphanet:254525" -MONDO:0016780 "ICD10:Q93.5" MONDO:0017422 "Orphanet:294931" -MONDO:0017422 "ICD10:Q71.3" +MONDO:0017422 "ICD10CM:Q71.3" +MONDO:0018980 "ICD10CM:Q75.4" MONDO:0018980 "SCTID:720427009" MONDO:0018980 "UMLS:CN205418" -MONDO:0018980 "ICD10:Q75.4" MONDO:0018980 "Orphanet:64542" NCBITaxon:1329799 "PMID:25450099" NCBITaxon:1329799 "GC_ID:1" @@ -86225,47 +84101,45 @@ MONDO:0012383 "UMLS:C1864947" MONDO:0012383 "MESH:C566492" MONDO:0012383 "SCTID:724275005" MONDO:0012383 "OMIM:609981" -MONDO:0012383 "ICD10:D84.8" +MONDO:0012383 "ICD10CM:D84.8" MONDO:0012383 "Orphanet:75391" MONDO:0012383 "NCIT:C123729" MONDO:0002263 "DOID:229" +MONDO:0002263 "ICD10CM:N80-N98" MONDO:0002263 "NCIT:C27020" MONDO:0002263 "ICD9:629.9" MONDO:0002263 "SCTID:310789003" MONDO:0002263 "MESH:D005831" -NCBITaxon:34630 "PMID:14707501" -NCBITaxon:34630 "GC_ID:1" MONDO:0024535 "Orphanet:85191" MONDO:0024535 "OMIM:182250" MONDO:0024535 "UMLS:C4225427" +NCBITaxon:34630 "PMID:14707501" +NCBITaxon:34630 "GC_ID:1" +MONDO:0015547 "Orphanet:158124" MONDO:0020208 "Orphanet:98620" MONDO:0020208 "UMLS:CN227818" -MONDO:0015547 "Orphanet:158124" MONDO:0012602 "OMIM:611022" MONDO:0012602 "MESH:C567027" MONDO:0012602 "UMLS:C1970239" -MONDO:0012602 "ICD10:H90.3" MONDO:0012602 "DOID:0110482" MONDO:0003799 "UMLS:C0009763" MONDO:0003799 "MESH:D003231" MONDO:0003799 "NCIT:C34504" MONDO:0003799 "ICD9:372.39" -MONDO:0003799 "ICD10:H10.9" MONDO:0003799 "ICD9:372.30" MONDO:0003799 "HP:0000509" MONDO:0003799 "DOID:6195" MONDO:0003799 "SCTID:9826008" -MONDO:0003799 "ICD10:H10" -MONDO:0010391 "Orphanet:95429" MONDO:0010391 "OMIM:300652" +MONDO:0010391 "Orphanet:95429" MONDO:0010391 "GARD:0010188" MONDO:0004975 "MESH:D000544" +MONDO:0004975 "ICD10CM:G30" MONDO:0004975 "HP:0002511" MONDO:0004975 "DOID:10652" MONDO:0004975 "ICD9:331.0" MONDO:0004975 "OMIM:615590" MONDO:0004975 "GARD:0000632" -MONDO:0004975 "ICD10:G30.9" MONDO:0004975 "EFO:0000249" MONDO:0004975 "ICD9:290.1" MONDO:0004975 "UMLS:C0002395" @@ -86280,14 +84154,12 @@ MONDO:0004975 "NIFSTD:birnlex_2092" MONDO:0004975 "NCIT:C38778" MONDO:0004975 "Orphanet:238616" MONDO:0004975 "NCIT:C2866" -MONDO:0004975 "ICD10:G30" MONDO:0005617 "ICDO:8020/3" MONDO:0005617 "EFO:0006772" MONDO:0005617 "NCIT:C3692" MONDO:0005617 "UMLS:C0205698" MONDO:0005617 "ICDO:8021/3" MONDO:0016663 "Orphanet:251312" -MONDO:0016663 "ICD10:M35.1" MONDO:0016663 "UMLS:C0026272" MONDO:0016663 "MedDRA:10027754" MONDO:0016663 "UMLS:CN201903" @@ -86296,38 +84168,38 @@ MONDO:0013785 "NCIT:C153179" MONDO:0013785 "OMIM:614499" MONDO:0013785 "UMLS:C3281044" MONDO:0030019 "OMIM:618853" -MONDO:0012570 "ICD10:D68.4" MONDO:0012570 "UMLS:C1835813" MONDO:0012570 "OMIM:610842" MONDO:0012570 "SCTID:717941005" MONDO:0012570 "Orphanet:91135" MONDO:0012570 "UMLS:C4049241" MONDO:0012570 "MESH:C563654" +MONDO:0012570 "ICD10CM:D68.4" MONDO:0016151 "Orphanet:207101" MONDO:0031178 "OMIMPS:252270" HP:0000174 "UMLS:C4021815" -MONDO:0019351 "MESH:D016135" -MONDO:0019351 "OMIM:301410" +MONDO:0019351 "ICD10CM:Q05.6" MONDO:0019351 "OMIM:601634" -MONDO:0019351 "ICD10:Q05.3" MONDO:0019351 "GARD:0007673" +MONDO:0019351 "MESH:D016135" +MONDO:0019351 "ICD10CM:Q05.2" +MONDO:0019351 "ICD10CM:Q05.0" +MONDO:0019351 "ICD10CM:Q05.4" +MONDO:0019351 "ICD10CM:Q05.7" +MONDO:0019351 "ICD10CM:Q05.8" MONDO:0019351 "Orphanet:823" -MONDO:0019351 "ICD10:Q05.6" MONDO:0019351 "MedDRA:10041524" -MONDO:0019351 "ICD10:Q05.0" -MONDO:0019351 "ICD10:Q05.4" -MONDO:0019351 "ICD10:Q05.9" +MONDO:0019351 "OMIM:301410" +MONDO:0019351 "ICD10CM:Q05.3" MONDO:0019351 "OMIM:182940" -MONDO:0019351 "ICD10:Q05.2" -MONDO:0019351 "ICD10:Q05.7" -MONDO:0019351 "ICD10:Q05.1" -MONDO:0019351 "ICD10:Q05.8" -MONDO:0019351 "ICD10:Q05.5" +MONDO:0019351 "ICD10CM:Q05.1" +MONDO:0019351 "ICD10CM:Q05.5" +MONDO:0019351 "ICD10CM:Q05.9" MONDO:0000459 "NCIT:C111695" MONDO:0000459 "DOID:0050805" MONDO:0000459 "UMLS:C3829122" -MONDO:0018154 "ICD10:Q74.0" MONDO:0018154 "SCTID:4530000" +MONDO:0018154 "ICD10CM:Q74.0" MONDO:0018154 "OMIM:127300" MONDO:0018154 "MedDRA:10007700" MONDO:0018154 "ICD9:755.54" @@ -86339,41 +84211,40 @@ MONDO:0008265 "OMIM:174050" MONDO:0008265 "UMLS:C4255088" MONDO:0008265 "MedDRA:10010427" MONDO:0008265 "Orphanet:2924" -MONDO:0008265 "ICD10:Q44.6" +MONDO:0008265 "ICD10CM:Q44.6" MONDO:0008265 "UMLS:C0158683" MONDO:0008265 "MedDRA:10048834" MONDO:0008265 "SCTID:716196007" MONDO:0008265 "OMIM:617004" NCBITaxon:9989 "GC_ID:1" -MONDO:0015768 "ICD10:Q92.2" MONDO:0015768 "Orphanet:1742" +MONDO:0015768 "ICD10CM:Q92.2" MONDO:0015768 "GARD:0006093" MONDO:0009476 "OMIM:243600" MONDO:0009476 "GARD:0000140" +MONDO:0009476 "ICD10CM:Q41.2" MONDO:0009476 "MedDRA:10010626" MONDO:0009476 "NCIT:C98828" -MONDO:0009476 "ICD10:Q41.1" -MONDO:0009476 "ICD10:Q41.2" +MONDO:0009476 "ICD10CM:Q41.1" MONDO:0009476 "GARD:0006799" -MONDO:0009476 "ICD10:Q41.9" +MONDO:0009476 "ICD10CM:Q41.9" MONDO:0009476 "UMLS:C0266172" -MONDO:0009476 "ICD10:Q41.0" +MONDO:0009476 "ICD10CM:Q41.0" MONDO:0009476 "Orphanet:1201" -MONDO:0009476 "ICD10:Q41.8" MONDO:0009476 "MESH:C538260" +MONDO:0009476 "ICD10CM:Q41.8" MONDO:0011614 "UMLS:C2751532" MONDO:0011614 "GARD:0002712" MONDO:0011614 "SCTID:725286002" -MONDO:0011614 "ICD10:E71.3" MONDO:0011614 "MESH:C567784" MONDO:0011614 "Orphanet:35701" MONDO:0011614 "OMIM:605911" +MONDO:0011614 "ICD10CM:E71.3" MONDO:0005147 "DOID:9744" MONDO:0005147 "OMIM:125852" MONDO:0005147 "SCTID:46635009" MONDO:0005147 "OMIM:601942" MONDO:0005147 "EFO:0001359" -MONDO:0005147 "ICD10:E10" MONDO:0005147 "OMIM:612522" MONDO:0005147 "KEGG:04940" MONDO:0005147 "NCIT:C2986" @@ -86384,18 +84255,18 @@ MONDO:0005147 "OMIM:222100" MONDO:0005147 "OMIM:601388" MONDO:0005147 "OMIM:610155" MONDO:0004858 "ICD9:575.2" +MONDO:0004858 "ICD10CM:K82.0" MONDO:0004858 "NCIT:C78308" MONDO:0004858 "DOID:9714" MONDO:0004858 "SCTID:197416005" MONDO:0004858 "UMLS:C0156214" -MONDO:0004858 "ICD10:K82.0" MONDO:0006221 "UMLS:C0149826" MONDO:0006221 "NCIT:C7699" MONDO:0006221 "EFO:1000268" MONDO:0009738 "UMLS:C0023806" MONDO:0009738 "UMLS:CN206285" -MONDO:0009738 "ICD10:E77.1" MONDO:0009738 "Orphanet:87876" +MONDO:0009738 "ICD10CM:E77.1" MONDO:0009738 "DOID:3343" MONDO:0009738 "SCTID:81896006" MONDO:0009738 "OMIM:256150" @@ -86413,8 +84284,8 @@ MONDO:0009738 "GARD:0007183" MONDO:0033572 "OMIM:619031" MONDO:0019679 "Orphanet:93397" MONDO:0019679 "UMLS:CN206603" +MONDO:0019679 "ICD10CM:Q73.8" MONDO:0019679 "GARD:0000984" -MONDO:0019679 "ICD10:Q73.8" MONDO:0019679 "SCTID:720571006" MONDO:0002086 "MESH:D049309" MONDO:0002086 "NCIT:C97041" @@ -86426,7 +84297,7 @@ MONDO:0016372 "GARD:0006519" MONDO:0016372 "MedDRA:10018391" MONDO:0016372 "DOID:14423" MONDO:0016372 "SCTID:43763009" -MONDO:0016372 "ICD10:G52.1" +MONDO:0016372 "ICD10CM:G52.1" MONDO:0016372 "ICD9:352.1" MONDO:0016372 "UMLS:C0154731" MONDO:0001720 "UMLS:C0343714" @@ -86436,8 +84307,8 @@ MONDO:0001720 "UMLS:C0275662" MONDO:0001720 "ICD9:098.51" MONDO:0010855 "MESH:C537036" MONDO:0010855 "GARD:0000296" -MONDO:0010855 "ICD10:Q87.2" MONDO:0010855 "UMLS:C1838328" +MONDO:0010855 "ICD10CM:Q87.2" MONDO:0010855 "Orphanet:2832" MONDO:0010855 "SCTID:721075001" MONDO:0010855 "OMIM:600269" @@ -86468,14 +84339,14 @@ MONDO:0007662 "UMLS:C1842031" MONDO:0007662 "GARD:0003026" MONDO:0007662 "DOID:0080609" MONDO:0019726 "UMLS:CN206633" -MONDO:0019726 "ICD10:D89.1" +MONDO:0019726 "ICD10CM:D89.1" MONDO:0019726 "Orphanet:93554" NCBITaxon:34504 "GC_ID:1" MONDO:0001074 "MESH:D013981" MONDO:0001074 "ICD9:307.22" MONDO:0001074 "NCIT:C116768" +MONDO:0001074 "ICD10CM:F95.1" MONDO:0001074 "DOID:10600" -MONDO:0001074 "ICD10:F95.1" MONDO:0018529 "Orphanet:424925" NCBITaxon:51291 "PMID:25634949" NCBITaxon:51291 "PMID:16079343" @@ -86491,7 +84362,7 @@ MONDO:0008347 "OMIM:615342" MONDO:0008347 "OMIM:178600" MONDO:0008347 "OMIM:615343" MONDO:0008347 "UMLS:CN205068" -MONDO:0008347 "ICD10:I27.0" +MONDO:0008347 "ICD10CM:I27.0" MONDO:0008347 "OMIM:615344" MONDO:0008347 "OMIM:265400" MONDO:0008347 "Orphanet:422" @@ -86533,7 +84404,8 @@ MONDO:0016537 "Orphanet:238510" MONDO:0001941 "SCTID:105597003" MONDO:0001941 "NCIT:C97109" MONDO:0001941 "ICD9:369" -MONDO:0001941 "ICD10:H54" +MONDO:0001941 "ICD10CM:H53-H54" +MONDO:0001941 "ICD10CM:H54" MONDO:0001941 "DOID:1432" MONDO:0001941 "MESH:D001766" MONDO:0017611 "SCTID:127024001" @@ -86543,28 +84415,26 @@ MONDO:0017611 "Orphanet:304055" MONDO:0017611 "NCIT:C3330" MONDO:0001378 "UMLS:C0153615" MONDO:0001378 "ICD9:188.7" -MONDO:0001378 "ICD10:C67.7" MONDO:0001378 "DOID:11817" MONDO:0001378 "SCTID:363456000" MONDO:0019913 "Orphanet:96182" -MONDO:0019913 "ICD10:Q87.1" MONDO:0019913 "UMLS:CN206841" -MONDO:0009068 "NCIT:C98910" +MONDO:0019913 "ICD10CM:Q87.1" MONDO:0009068 "Orphanet:254905" +MONDO:0009068 "NCIT:C98910" +MONDO:0009068 "SCTID:67434000" MONDO:0009068 "OMIM:220110" -MONDO:0009068 "ICD10:E88.8" +MONDO:0009068 "UMLS:C0268237" MONDO:0009068 "MESH:D030401" +MONDO:0009068 "ICD10CM:E88.8" MONDO:0009068 "DOID:3762" -MONDO:0009068 "UMLS:C0268237" -MONDO:0009068 "SCTID:67434000" MONDO:0009068 "GARD:0000048" -MONDO:0018716 "ICD10:D18.0" +MONDO:0018716 "ICD10CM:D18.0" MONDO:0018716 "Orphanet:458785" MONDO:0032653 "OMIM:618280" MONDO:0006607 "EFO:1000763" MONDO:0006607 "MESH:D012625" MONDO:0006607 "UMLS:C0036502" -MONDO:0006607 "ICD10:L70.8" MONDO:0006607 "DOID:9098" MONDO:0006607 "SCTID:3441005" MONDO:0006607 "ICD9:706.1" @@ -86577,13 +84447,13 @@ MONDO:0014775 "UMLS:C4225206" MONDO:0014775 "DOID:0111470" MONDO:0014775 "OMIM:616794" MONDO:0031009 "OMIM:619267" +MONDO:0010033 "ICD10CM:Q80.8" MONDO:0010033 "SCTID:718749004" MONDO:0010033 "OMIM:270300" MONDO:0010033 "Orphanet:263553" MONDO:0010033 "GARD:0012862" MONDO:0010033 "UMLS:CN202304" MONDO:0010033 "Orphanet:263543" -MONDO:0010033 "ICD10:Q80.8" MONDO:0010033 "OMIM:616265" MONDO:0010033 "UMLS:C4305156" MONDO:0017141 "Orphanet:275729" @@ -86596,13 +84466,12 @@ MONDO:0004567 "DOID:8440" MONDO:0004567 "MESH:D045823" MONDO:0001449 "ICD9:049.0" MONDO:0001449 "UMLS:C0024266" -MONDO:0001449 "ICD10:A87.2" MONDO:0001449 "DOID:12155" +MONDO:0001449 "ICD10CM:A87.2" MONDO:0001449 "MESH:D008216" MONDO:0026765 "OMIM:301045" MONDO:0025511 "UMLS:CN202530" MONDO:0025511 "Orphanet:271847" -MONDO:0009255 "ICD10:E74.2" MONDO:0009255 "Orphanet:79237" MONDO:0009255 "MESH:D005693" MONDO:0009255 "UMLS:C0268155" @@ -86610,32 +84479,31 @@ MONDO:0009255 "Orphanet:352" MONDO:0009255 "SCTID:124302001" MONDO:0009255 "GARD:0002422" MONDO:0009255 "NCIT:C114767" -MONDO:0009255 "ICD10:E74.29" MONDO:0009255 "DOID:14695" +MONDO:0009255 "ICD10CM:E74.2" MONDO:0009255 "OMIM:230200" MONDO:0016758 "Orphanet:2523" MONDO:0016758 "GARD:0003607" MONDO:0016758 "UMLS:CN202009" -MONDO:0016758 "ICD10:G98" +MONDO:0016758 "ICD10CM:G98" MONDO:0012604 "DOID:0060842" -MONDO:0012604 "ICD10:Q11.0" MONDO:0012604 "UMLS:C1970237" MONDO:0012604 "Orphanet:2542" MONDO:0012604 "OMIM:611038" MONDO:0012604 "MESH:C567025" MONDO:0007211 "UMLS:C1862170" MONDO:0007211 "MESH:C537095" -MONDO:0007211 "ICD10:Q73.8" +MONDO:0007211 "ICD10CM:Q73.8" MONDO:0007211 "SCTID:720568003" MONDO:0007211 "OMIM:112410" MONDO:0007211 "Orphanet:1276" MONDO:0007211 "DOID:0111247" MONDO:0007211 "GARD:0000967" MONDO:0015430 "GARD:0001320" +MONDO:0015430 "ICD10CM:Q93.2" MONDO:0015430 "MESH:C535361" MONDO:0015430 "SCTID:47017007" MONDO:0015430 "Orphanet:1437" -MONDO:0015430 "ICD10:Q93.2" MONDO:0015430 "NCIT:C36474" MONDO:0015430 "GTR:AN0102272" MONDO:0015430 "UMLS:CN036412" @@ -86647,7 +84515,7 @@ MONDO:0020618 "OMIM:111500" MONDO:0010729 "OMIM:312840" MONDO:0010729 "UMLS:C1839320" MONDO:0010729 "GARD:0009288" -MONDO:0010729 "ICD10:Q87.8" +MONDO:0010729 "ICD10CM:Q87.8" MONDO:0010729 "MESH:C536630" MONDO:0010729 "Orphanet:85285" MONDO:0010729 "SCTID:719010001" @@ -86657,45 +84525,43 @@ MONDO:0013635 "Orphanet:974" MONDO:0009591 "GARD:0004545" MONDO:0009591 "Orphanet:309263" MONDO:0009591 "OMIM:250100" +MONDO:0009591 "ICD10CM:E75.2" MONDO:0009591 "GARD:0003230" MONDO:0009591 "Orphanet:512" -MONDO:0009591 "ICD10:E75.2" MONDO:0009591 "UMLS:C0023522" MONDO:0009591 "SCTID:238031009" MONDO:0010308 "UMLS:C3550789" MONDO:0010308 "Orphanet:67044" MONDO:0010308 "OMIM:300367" MONDO:0010308 "NCIT:C136653" -MONDO:0005619 "GARD:0009564" MONDO:0005619 "ICD9:002.0" +MONDO:0005619 "GARD:0009564" +MONDO:0005619 "UMLS:C0041466" MONDO:0005619 "Orphanet:99745" -MONDO:0005619 "ICD10:A01.00" MONDO:0005619 "DOID:13258" -MONDO:0005619 "UMLS:C0041466" MONDO:0005619 "MESH:D014435" MONDO:0005619 "SCTID:4834000" MONDO:0005619 "EFO:0006789" MONDO:0005619 "NCIT:C35089" -MONDO:0005619 "ICD10:A01.0" MONDO:0018582 "Orphanet:438274" -MONDO:0018582 "ICD10:E16.3" MONDO:0018582 "GARD:0010460" +MONDO:0018582 "ICD10CM:E16.3" MONDO:0018582 "UMLS:CN237611" MONDO:0004754 "NCIT:C34973" MONDO:0004754 "HP:0002035" +MONDO:0004754 "ICD10CM:K62.3" MONDO:0004754 "DOID:9307" -MONDO:0004754 "ICD10:K62.3" MONDO:0004754 "ICD9:569.1" MONDO:0004754 "UMLS:C0034888" MONDO:0017362 "MedDRA:10063020" MONDO:0017362 "Orphanet:2901" -MONDO:0017362 "ICD10:G54.5" MONDO:0017362 "OMIM:162100" +MONDO:0017362 "ICD10CM:G54.5" MONDO:0002710 "DOID:3615" MONDO:0002710 "UMLS:C1305256" MONDO:0002710 "NCIT:C7449" +MONDO:0018004 "ICD10CM:C94.2" MONDO:0018004 "Orphanet:329469" -MONDO:0018004 "ICD10:C94.2" MONDO:0018004 "UMLS:CN204216" MONDO:0011793 "OMIM:607202" MONDO:0060704 "UMLS:CN244929" @@ -86714,59 +84580,57 @@ MONDO:0013822 "Orphanet:950" MONDO:0013822 "UMLS:C3553250" MONDO:0013822 "Orphanet:280651" MONDO:0015066 "NCIT:C96422" +MONDO:0015066 "ICD10CM:D37.3" MONDO:0015066 "ONCOTREE:AWDNET" MONDO:0015066 "Orphanet:100079" -MONDO:0015066 "ICD10:C18.1" -MONDO:0015066 "ICD10:D37.3" +MONDO:0015066 "ICD10CM:C18.1" MONDO:0015066 "SCTID:725167001" MONDO:0012188 "OMIM:609055" -MONDO:0012188 "ICD10:E75.4" +MONDO:0012188 "ICD10CM:E75.4" MONDO:0012188 "GARD:0006618" MONDO:0012188 "Orphanet:228357" MONDO:0012188 "Orphanet:79264" MONDO:0012188 "MESH:C537953" MONDO:0012188 "DOID:0110733" MONDO:0016012 "NCIT:C113422" -MONDO:0016012 "ICD10:Q86.8" MONDO:0016012 "MedDRA:10012780" MONDO:0016012 "SCTID:716005004" MONDO:0016012 "Orphanet:1916" MONDO:0016012 "UMLS:C0853695" +MONDO:0016012 "ICD10CM:Q86.8" MONDO:0016012 "GARD:0001859" -MONDO:0019529 "ICD10:G97.8" +MONDO:0019529 "ICD10CM:G97.8" MONDO:0019529 "Orphanet:90021" MONDO:0019529 "SCTID:26037005" MONDO:0019529 "ICD9:336.8" +MONDO:0017245 "ICD10CM:Q33.2" MONDO:0017245 "Orphanet:280802" -MONDO:0017245 "ICD10:Q33.2" MONDO:0008126 "OMIM:164891" MONDO:0014367 "OMIM:615846" MONDO:0014367 "Orphanet:51" MONDO:0014367 "UMLS:C3888244" MONDO:0005312 "Orphanet:217067" -MONDO:0005312 "ICD10:K91.850" MONDO:0005312 "ICD9:569.71" MONDO:0005312 "UMLS:C0376620" +MONDO:0005312 "ICD10CM:K91.850" MONDO:0005312 "MESH:D019449" MONDO:0005312 "EFO:0003921" NCBITaxon:5073 "GC_ID:1" MONDO:0014250 "OMIM:615555" MONDO:0014250 "SCTID:763715007" +MONDO:0014250 "ICD10CM:E22.1" MONDO:0014250 "Orphanet:397685" -MONDO:0014250 "ICD10:E22.1" MONDO:0013480 "GARD:0012155" MONDO:0013480 "DOID:0060884" MONDO:0013480 "OMIM:613882" MONDO:0013480 "UMLS:C3151295" MONDO:0013480 "Orphanet:34527" -MONDO:0013480 "ICD10:E83.4" MONDO:0011864 "OMIM:607594" MONDO:0011864 "UMLS:C0009447" MONDO:0011864 "UMLS:C3149378" MONDO:0011864 "Orphanet:1572" MONDO:0018601 "Orphanet:440354" MONDO:0018601 "UMLS:CN237631" -MONDO:0012375 "ICD10:H90.3" MONDO:0012375 "MESH:C566498" MONDO:0012375 "UMLS:C1864964" MONDO:0012375 "GARD:0009935" @@ -86783,12 +84647,11 @@ MONDO:0021039 "UMLS:C1333514" MONDO:0018647 "UMLS:C0400978" MONDO:0018647 "Orphanet:447774" MONDO:0018647 "SCTID:197442005" -MONDO:0018647 "ICD10:K83.0" +MONDO:0018647 "ICD10CM:K83.0" MONDO:0009528 "SCTID:702364003" MONDO:0009528 "MESH:C535460" -MONDO:0009528 "ICD10:E78.6" +MONDO:0009528 "ICD10CM:E78.6" MONDO:0009528 "Orphanet:71" -MONDO:0009528 "ICD10:E78.3" MONDO:0009528 "UMLS:C0795956" MONDO:0009528 "GARD:0009683" MONDO:0009528 "OMIM:246700" @@ -86802,9 +84665,9 @@ MONDO:0000811 "MESH:D063748" NCBITaxon:325675 "GC_ID:1" MONDO:0032842 "OMIM:618635" MONDO:0015432 "UMLS:C0795843" +MONDO:0015432 "ICD10CM:Q93.2" MONDO:0015432 "MESH:C538298" MONDO:0015432 "GARD:0001325" -MONDO:0015432 "ICD10:Q93.2" MONDO:0015432 "Orphanet:1439" HP:0000846 "SNOMEDCT_US:111563005" HP:0000846 "SNOMEDCT_US:386584007" @@ -86814,26 +84677,19 @@ HP:0000846 "UMLS:C0001623" MONDO:0020482 "SCTID:715789009" MONDO:0020482 "Orphanet:99735" MONDO:0020482 "OMIM:608390" +MONDO:0020482 "ICD10CM:G71.1" MONDO:0020482 "UMLS:CN207354" -MONDO:0020482 "ICD10:G71.1" MONDO:0005557 "ICD9:275.49" MONDO:0005557 "DOID:10575" -MONDO:0005557 "SCTID_2010_1_31:71638002" MONDO:0005557 "ICD9:275.4" MONDO:0005557 "MESH:D002128" -MONDO:0005557 "SCTID_2010_1_31:190863003" MONDO:0005557 "EFO:0005769" -MONDO:0005557 "ICD10:E83.5" MONDO:0005557 "SCTID:71638002" MONDO:0005557 "ICD9:275.40" MONDO:0005557 "UMLS:C0006705" -MONDO:0005557 "SCTID_2010_1_31:267442002" -MONDO:0005557 "ICD10:E83.50" -MONDO:0005557 "SCTID_2010_1_31:190874007" MONDO:0001228 "SCTID:41308008" MONDO:0001228 "DOID:11219" MONDO:0001228 "UMLS:C0155143" -MONDO:0001228 "ICD10:H10.01" MONDO:0001228 "ICD9:372.02" MONDO:0003860 "UMLS:C1263882" MONDO:0003860 "NCIT:C5300" @@ -86852,7 +84708,7 @@ MONDO:0012596 "UMLS:C1970253" MONDO:0012596 "Orphanet:284417" MONDO:0012596 "DOID:0050723" MONDO:0012596 "GARD:0013273" -MONDO:0012596 "ICD10:E72.8" +MONDO:0012596 "ICD10CM:E72.8" MONDO:0012596 "OMIM:610992" MONDO:0044246 "OMIM:164170" MONDO:0014625 "UMLS:C4225337" @@ -86864,14 +84720,15 @@ CL:0000178 "CALOHA:TS-1150" CL:0000178 "BTO:0000755" CL:0000178 "FMA:72297" MONDO:0016873 "Orphanet:261801" -MONDO:0016873 "ICD10:Q93.5" +MONDO:0016873 "ICD10CM:Q93.5" CL:0000354 "ncithesaurus:Blastemal_Cell" MONDO:0006609 "UMLS:C0221244" MONDO:0006609 "ICD9:690.11" -MONDO:0006609 "ICD10:L21.0" MONDO:0006609 "EFO:1000765" +MONDO:0006609 "ICD10CM:L21.0" MONDO:0006609 "DOID:8941" MONDO:0016702 "EFO:0000630" +MONDO:0016702 "ICD10CM:C71.9" MONDO:0016702 "NCIT:C4050" MONDO:0016702 "Orphanet:251656" MONDO:0016702 "GARD:0009769" @@ -86879,34 +84736,32 @@ MONDO:0016702 "ONCOTREE:OAST" MONDO:0016702 "UMLS:C0280793" MONDO:0016702 "MedDRA:10027744" MONDO:0016702 "SCTID:716647001" -MONDO:0016702 "ICD10:C71.9" MONDO:0016702 "MESH:D009837" MONDO:0016702 "DOID:7912" MONDO:0022799 "SCTID:74774004" MONDO:0022799 "GARD:0006131" MONDO:0022799 "EFO:1001881" MONDO:0022799 "UMLS:C0221207" -MONDO:0020365 "ICD10:H18.5" MONDO:0020365 "SCTID:416633008" +MONDO:0020365 "OMIM:121700" +MONDO:0020365 "ICD10CM:H18.5" MONDO:0020365 "Orphanet:98975" MONDO:0006998 "UMLS:C0751560" MONDO:0006998 "NCIT:C7404" -MONDO:0006998 "ICD10:C09.9" -MONDO:0006998 "ICD10:C09" MONDO:0006998 "EFO:1001214" +MONDO:0006998 "ICD10CM:C09" MONDO:0006998 "SCTID:363393007" MONDO:0006998 "MedDRA:10044002" MONDO:0006998 "MESH:D014067" MONDO:0006998 "DOID:8858" MONDO:0006998 "NCIT:C4825" MONDO:0006998 "ICD9:146.0" -MONDO:0001543 "ICD10:G57.00" MONDO:0001543 "DOID:12528" MONDO:0001543 "SCTID:52585001" MONDO:0001543 "MESH:D020426" MONDO:0001543 "ICD9:355.0" MONDO:0001543 "SCTID:367137004" -MONDO:0001543 "ICD10:G57.0" +MONDO:0001543 "ICD10CM:G57.0" MONDO:0001543 "UMLS:C0154748" MONDO:0003743 "NCIT:C5365" MONDO:0003743 "UMLS:C1334567" @@ -86914,7 +84769,6 @@ MONDO:0003743 "DOID:6034" MONDO:0008816 "OMIM:207950" MONDO:0008816 "MedDRA:10056945" MONDO:0008816 "Orphanet:1136" -MONDO:0008816 "ICD10:Q07.0" MONDO:0008816 "GARD:0009232" MONDO:0008816 "SCTID:373587001" MONDO:0100374 "NCIT:C9019" @@ -86929,7 +84783,6 @@ HP:0001909 "SNOMEDCT_US:93143009" HP:0001909 "SNOMEDCT_US:269475001" MONDO:0019174 "OMIM:614873" MONDO:0019174 "OMIM:614920" -MONDO:0019174 "ICD10:G60.1" MONDO:0019174 "MESH:D052919" MONDO:0019174 "OMIM:614863" MONDO:0019174 "GARD:0004648" @@ -86942,6 +84795,7 @@ MONDO:0019174 "OMIM:614871" MONDO:0019174 "OMIM:202370" MONDO:0019174 "OMIM:266510" MONDO:0019174 "SCTID:238062008" +MONDO:0019174 "ICD10CM:G60.1" MONDO:0019174 "OMIM:614877" MONDO:0019174 "NCIT:C84789" MONDO:0030048 "OMIM:618892" @@ -86955,17 +84809,15 @@ MONDO:0000141 "OMIM:257300" MONDO:0000141 "GARD:0003007" MONDO:0000141 "SCTID:700056005" MONDO:0000141 "OMIM:614114" -MONDO:0000141 "ICD10:Q99.8" MONDO:0000141 "ICD9:758.89" +MONDO:0000141 "ICD10CM:Q99.8" MONDO:0000141 "MESH:C536987" MONDO:0000141 "UMLS:C1850343" MONDO:0003097 "NCIT:C5429" MONDO:0003097 "DOID:4690" MONDO:0003097 "UMLS:C1332981" -MONDO:0006044 "ICD10:N26.9" MONDO:0006044 "GARD:0007179" MONDO:0006044 "EFO:1000041" -MONDO:0006044 "ICD10:I12" MONDO:0006044 "ICD9:587" MONDO:0006044 "DOID:11664" MONDO:0006044 "SCTID:32916005" @@ -86990,11 +84842,11 @@ MONDO:0001614 "UMLS:C0153844" CL:0000575 "FMA:70551" CL:0000575 "BTO:0004298" CL:0000575 "CALOHA:TS-0173" +MONDO:0009420 "ICD10CM:E29.1" MONDO:0009420 "OMIM:241090" -MONDO:0009420 "ICD10:E28.3" +MONDO:0009420 "ICD10CM:E28.3" MONDO:0009420 "SCTID:719275009" MONDO:0009420 "Orphanet:2232" -MONDO:0009420 "ICD10:E29.1" MONDO:0009420 "MESH:C567109" MONDO:0013083 "OMIM:613014" MONDO:0030917 "DOID:0080232" @@ -87022,11 +84874,11 @@ MONDO:0008682 "MedDRA:10070179" MONDO:0008682 "SCTID:236385009" MONDO:0008682 "DOID:3764" MONDO:0008682 "MESH:D030321" -MONDO:0008682 "ICD10:N04.1" MONDO:0008682 "GARD:0005576" MONDO:0008682 "UMLS:C0950121" MONDO:0008682 "UMLS:C3151568" MONDO:0008682 "NCIT:C84668" +MONDO:0008682 "ICD10CM:N04.1" MONDO:0008682 "Orphanet:220" MONDO:0008682 "OMIM:194080" MONDO:0008682 "ICD9:189.0" @@ -87051,13 +84903,12 @@ MONDO:0008549 "OMIM:187750" MONDO:0008549 "MESH:C566063" MONDO:0008549 "UMLS:C1861204" MONDO:0001972 "SCTID:427999003" -MONDO:0001972 "ICD10:A23.0" MONDO:0001972 "UMLS:C0302362" MONDO:0001972 "DOID:14456" MONDO:0001972 "ICD9:023.0" -MONDO:0007875 "ICD10:Q74.8" MONDO:0007875 "GARD:0006860" MONDO:0007875 "ICD9:759.89" +MONDO:0007875 "ICD10CM:Q74.8" MONDO:0007875 "DOID:14764" MONDO:0007875 "UMLS:C0175778" MONDO:0007875 "SCTID:63387002" @@ -87071,10 +84922,9 @@ MONDO:0012017 "UMLS:CN074207" MONDO:0012017 "SCTID:234143003" MONDO:0012017 "Orphanet:90307" MONDO:0012017 "GARD:0009787" +MONDO:0012017 "ICD10CM:Q87.2" MONDO:0012017 "OMIM:608355" -MONDO:0012017 "ICD10:Q87.2" MONDO:0012071 "DOID:0111135" -MONDO:0012071 "ICD10:E88.1" MONDO:0012071 "Orphanet:528" MONDO:0012071 "GARD:0000084" MONDO:0012071 "OMIM:608594" @@ -87082,7 +84932,6 @@ MONDO:0001817 "UMLS:C0154946" MONDO:0001817 "ICD9:365.22" MONDO:0001817 "DOID:13862" MONDO:0001817 "SCTID:30041005" -MONDO:0001817 "ICD10:H40.21" MONDO:0032645 "OMIM:618268" MONDO:0010196 "GARD:0007885" MONDO:0010196 "UMLS:C0043119" @@ -87093,12 +84942,11 @@ MONDO:0010196 "OMIM:277700" MONDO:0010196 "MESH:D014898" MONDO:0010196 "SCTID:51626007" MONDO:0010196 "ICD9:259.8" -MONDO:0010196 "ICD10:E34.8" +MONDO:0010196 "ICD10CM:E34.8" MONDO:0010196 "MedDRA:10049429" NCBITaxon:32443 "GC_ID:1" MONDO:0020261 "Orphanet:98691" MONDO:0011279 "MESH:C566418" -MONDO:0011279 "ICD10:H90.3" MONDO:0011279 "OMIM:603010" MONDO:0011279 "DOID:0110472" MONDO:0011279 "UMLS:C1864276" @@ -87113,23 +84961,23 @@ MONDO:0012225 "UMLS:C1836517" MONDO:0012225 "MESH:C563763" MONDO:0012225 "Orphanet:3156" MONDO:0016468 "Orphanet:230800" -MONDO:0016468 "ICD10:A05.1" +MONDO:0016468 "ICD10CM:A05.1" HP:0030828 "SNOMEDCT_US:56018004" HP:0030828 "UMLS:C0043144" HP:0030828 "MSH:D012135" MONDO:0017414 "Orphanet:294057" -MONDO:0013458 "ICD10:N15.8" MONDO:0013458 "OMIM:613845" +MONDO:0013458 "ICD10CM:N15.8" MONDO:0013458 "Orphanet:363694" MONDO:0013458 "UMLS:C3151209" MONDO:0014404 "Orphanet:370006" MONDO:0014404 "OMIM:615926" MONDO:0014404 "UMLS:C4014708" MONDO:0017863 "Orphanet:31828" +MONDO:0017863 "ICD10CM:T46.0" MONDO:0017863 "UMLS:CN203897" MONDO:0017863 "SCTID:12876009" -MONDO:0017863 "ICD10:T46.0" -MONDO:0011466 "ICD10:G71.0" +MONDO:0011466 "ICD10CM:G71.0" MONDO:0011466 "UMLS:CN205368" MONDO:0011466 "Orphanet:603" MONDO:0011466 "GARD:0005552" @@ -87157,35 +85005,35 @@ MONDO:0024891 "SCTID:230155003" MONDO:0004207 "NCIT:C5373" MONDO:0004207 "UMLS:C1335572" MONDO:0004207 "DOID:7389" -MONDO:0013981 "ICD10:G25.3" MONDO:0013981 "UMLS:C3539916" MONDO:0013981 "OMIMPS:614937" MONDO:0013981 "SCTID:763770005" +MONDO:0013981 "ICD10CM:G25.3" MONDO:0013981 "Orphanet:319189" MONDO:0015925 "MESH:D017563" MONDO:0015925 "EFO:0004244" MONDO:0015925 "DOID:3082" +MONDO:0015925 "ICD10CM:J80-J84" MONDO:0015925 "UMLS:C0206062" MONDO:0015925 "MedDRA:10022611" MONDO:0015925 "SCTID:233703007" MONDO:0015925 "GARD:0013336" MONDO:0015925 "Orphanet:182095" -MONDO:0015925 "ICD10:J84.9" MONDO:0019024 "ICDO:9740/3" MONDO:0019024 "SCTID:118615008" MONDO:0019024 "NCIT:C9348" MONDO:0019024 "Orphanet:66661" -MONDO:0019024 "ICD10:C96.2" MONDO:0019024 "EFO:1000364" MONDO:0019024 "ICD9:202.6" +MONDO:0019024 "ICD10CM:C96.2" MONDO:0019024 "DOID:355" MONDO:0019024 "UMLS:C0036221" MONDO:0019024 "MESH:D012515" MONDO:0019024 "ONCOTREE:MCSL" MONDO:0030330 "OMIM:619433" MONDO:0018217 "Orphanet:363965" -MONDO:0018217 "ICD10:Q93.5" MONDO:0018217 "UMLS:CN204741" +MONDO:0018217 "ICD10CM:Q93.5" NCBITaxon:694013 "GC_ID:1" MONDO:0015279 "OMIM:607644" MONDO:0015279 "DOID:2058" @@ -87194,7 +85042,7 @@ MONDO:0015279 "UMLS:C0006845" MONDO:0015279 "Orphanet:1334" MONDO:0015279 "SCTID:234568006" MONDO:0015279 "OMIM:212050" -MONDO:0015279 "ICD10:B37.2" +MONDO:0015279 "ICD10CM:B37.2" MONDO:0015279 "OMIM:114580" MONDO:0015279 "OMIM:247650" MONDO:0015279 "OMIM:616445" @@ -87209,10 +85057,10 @@ MONDO:0015279 "HP:0002728" MONDO:0015279 "MESH:D002178" MONDO:0015279 "OMIM:614162" MONDO:0017479 "Orphanet:295055" -MONDO:0017479 "ICD10:Q71.0" +MONDO:0017479 "ICD10CM:Q71.0" +MONDO:0001616 "ICD10CM:B48.0" MONDO:0001616 "SCTID:47306003" MONDO:0001616 "UMLS:C0152066" -MONDO:0001616 "ICD10:B48.0" MONDO:0001616 "DOID:13026" MONDO:0001616 "EFO:1001805" MONDO:0001616 "MESH:D060368" @@ -87220,12 +85068,10 @@ MONDO:0001616 "ICD9:116.2" MONDO:0019211 "OMIM:206800" MONDO:0019211 "OMIM:614149" MONDO:0019211 "Orphanet:79143" -MONDO:0019211 "ICD10:Q84.3" MONDO:0019211 "OMIM:107000" MONDO:0019211 "GARD:0012930" MONDO:0011058 "OMIM:601369" MONDO:0011058 "UMLS:C1832425" -MONDO:0011058 "ICD10:H90.3" MONDO:0011058 "MESH:C563335" MONDO:0011058 "DOID:0110593" MONDO:0000310 "DOID:0050308" @@ -87233,6 +85079,7 @@ MONDO:0013690 "UMLS:C3280479" MONDO:0013690 "DOID:0111332" MONDO:0013690 "OMIM:614325" MONDO:0013690 "Orphanet:221150" +MONDO:0021562 "ICD10CM:P35-P39" MONDO:0021562 "NCIT:C116008" MONDO:0021562 "SCTID:239095007" MONDO:0021562 "UMLS:C0028992" @@ -87242,10 +85089,10 @@ MONDO:0003262 "ONCOTREE:RHM" MONDO:0003262 "NCIT:C6909" MONDO:0003262 "DOID:5058" MONDO:0018857 "GARD:0001609" -MONDO:0018857 "ICD10:B87.0" MONDO:0018857 "MedDRA:10059547" MONDO:0018857 "Orphanet:504" MONDO:0018857 "UMLS:C1562462" +MONDO:0018857 "ICD10CM:B87.0" MONDO:0018857 "SCTID:417441005" MONDO:0013629 "OMIM:614208" MONDO:0013629 "UMLS:C3280154" @@ -87262,7 +85109,6 @@ MONDO:0032647 "OMIM:618272" MONDO:0018387 "UMLS:CN227335" MONDO:0018387 "Orphanet:399584" MONDO:0011938 "MESH:C538263" -MONDO:0011938 "ICD10:Q21.1" MONDO:0011938 "OMIM:607941" MONDO:0011938 "UMLS:C1842778" MONDO:0011938 "DOID:0110107" @@ -87277,7 +85123,7 @@ MONDO:0009264 "OMIM:230750" MONDO:0009264 "GARD:0008661" MONDO:0009264 "ICD9:756.73" MONDO:0009264 "MESH:D020139" -MONDO:0009264 "ICD10:Q79.3" +MONDO:0009264 "ICD10CM:Q79.3" MONDO:0009264 "DOID:11044" MONDO:0009264 "NCIT:C84725" MONDO:0002125 "DOID:1824" @@ -87285,16 +85131,19 @@ MONDO:0002125 "EFO:0008526" MONDO:0002125 "NCIT:C85079" MONDO:0002125 "GARD:0010191" MONDO:0002125 "MESH:D013226" -MONDO:0002125 "ICD10:G41" MONDO:0002125 "SCTID:230456007" MONDO:0002125 "UMLS:C0038220" -MONDO:0020567 "ICD10:P28.4" +MONDO:0020567 "ICD10CM:P28.4" MONDO:0020567 "NCIT:C98823" MONDO:0020567 "SCTID:276544005" MONDO:0020567 "Orphanet:99981" -MONDO:0010361 "OMIM:300558" MONDO:0010361 "UMLS:C0796237" +MONDO:0010361 "OMIM:300558" MONDO:0010361 "Orphanet:777" +MONDO:0024323 "NCIT:C4223" +MONDO:0024323 "DOID:8020" +MONDO:0024323 "ICDO:8713/0" +MONDO:0024323 "UMLS:C0334422" MONDO:0005696 "ICD9:013.35" MONDO:0005696 "ICD9:013.2" MONDO:0005696 "DOID:1638" @@ -87303,10 +85152,6 @@ MONDO:0005696 "EFO:0007199" MONDO:0005696 "UMLS:C2607948" MONDO:0005696 "SCTID:186217006" MONDO:0005696 "UMLS:C0085388" -MONDO:0024323 "NCIT:C4223" -MONDO:0024323 "DOID:8020" -MONDO:0024323 "ICDO:8713/0" -MONDO:0024323 "UMLS:C0334422" MONDO:0008067 "UMLS:C2750548" MONDO:0008067 "GARD:0007163" MONDO:0008067 "Orphanet:150" @@ -87344,22 +85189,21 @@ MONDO:0006075 "ICDO:8870/0" MONDO:0006075 "EFO:1000074" MONDO:0006075 "NCIT:C3736" MONDO:0006075 "MESH:D018209" +MONDO:0004763 "ICD10CM:I77.71" MONDO:0004763 "DOID:9348" MONDO:0004763 "UMLS:C0338585" MONDO:0004763 "NCIT:C125662" MONDO:0004763 "ICD9:443.21" -MONDO:0004763 "ICD10:I77.71" MONDO:0004763 "SCTID:720626009" +MONDO:0001113 "ICD10CM:I40.1" MONDO:0001113 "DOID:10778" MONDO:0001113 "ICD9:422.91" MONDO:0001113 "SCTID:266238009" MONDO:0001113 "UMLS:C0155689" -MONDO:0001113 "ICD10:I40.1" MONDO:0009451 "ICD9:279.13" MONDO:0009451 "UMLS:CN206066" MONDO:0009451 "DOID:2012" MONDO:0009451 "SCTID:55602000" -MONDO:0009451 "ICD10:D81.4" MONDO:0009451 "GARD:0007201" MONDO:0009451 "Orphanet:83471" MONDO:0009451 "MESH:C536288" @@ -87368,14 +85212,12 @@ MONDO:0021111 "ICD9:239.5" MONDO:0021111 "EFO:0003844" MONDO:0021111 "SCTID:126882009" MONDO:0021111 "NCIT:C3427" -NCBITaxon:6314 "GC_ID:1" NCBITaxon:555407 "GC_ID:1" MONDO:0003956 "SCTID:82304009" -MONDO:0003956 "ICD10:M48.2" -MONDO:0003956 "ICD10:M48.20" MONDO:0003956 "ICD9:721.5" MONDO:0003956 "UMLS:C0158248" MONDO:0003956 "DOID:6643" +NCBITaxon:6314 "GC_ID:1" MONDO:0060713 "MESH:C566604" MONDO:0060713 "OMIM:617992" NCBITaxon:11244 "GC_ID:1" @@ -87396,12 +85238,13 @@ MONDO:0022552 "MESH:C537664" MONDO:0015927 "Orphanet:182101" MONDO:0015927 "UMLS:C3872845" MONDO:0015927 "SCTID:708031000" -MONDO:0015927 "ICD10:J82" +MONDO:0015927 "ICD10CM:J82" MONDO:0021094 "SCTID:234532001" MONDO:0021094 "UMLS:C0021051" MONDO:0021094 "ICD9:279.3" MONDO:0021094 "NCIT:C3131" MONDO:0021094 "OMIMPS:300755" +NCBITaxon:2499411 "GC_ID:1" MONDO:0008895 "MESH:C565891" MONDO:0008895 "UMLS:C4305347" MONDO:0008895 "UMLS:C1859372" @@ -87412,17 +85255,16 @@ MONDO:0008895 "GARD:0010762" MONDO:0008895 "OMIM:211800" HP:0012372 "Fyler:4863" HP:0012372 "UMLS:C4022925" -NCBITaxon:2499411 "GC_ID:1" MONDO:0009537 "SCTID:44274007" MONDO:0009537 "OMIM:247610" MONDO:0009537 "Orphanet:79128" MONDO:0009537 "NCIT:C27558" MONDO:0009537 "UMLS:C0264511" MONDO:0009537 "MedDRA:10062997" -MONDO:0009537 "ICD10:J84.1" +MONDO:0009537 "ICD10CM:J84.1" +MONDO:0009537 "ICD10CM:J84.2" MONDO:0009537 "ICD9:516.8" MONDO:0009537 "MESH:C562489" -MONDO:0009537 "ICD10:J84.2" MONDO:0009537 "DOID:0050159" MONDO:0023273 "NCIT:C9430" MONDO:0023273 "GARD:0009624" @@ -87445,11 +85287,10 @@ MONDO:0016507 "Orphanet:231637" MONDO:0019688 "Orphanet:93423" MONDO:0019688 "UMLS:CN227674" MONDO:0015791 "SCTID:736606009" +MONDO:0015791 "ICD10CM:E30.1" MONDO:0015791 "Orphanet:178040" -MONDO:0015791 "ICD10:E30.1" MONDO:0009067 "MESH:D003555" MONDO:0009067 "MedDRA:10011778" -MONDO:0009067 "ICD10:E72.01" MONDO:0009067 "Orphanet:214" MONDO:0009067 "UMLS:C1857389" MONDO:0009067 "SCTID:85020001" @@ -87460,10 +85301,9 @@ MONDO:0009067 "HP:0003131" MONDO:0009067 "UMLS:C0010691" MONDO:0009067 "NCIT:C84664" MONDO:0009067 "Orphanet:93613" -MONDO:0009067 "ICD10:E72.0" +MONDO:0009067 "ICD10CM:E72.0" MONDO:0009067 "OMIM:220100" MONDO:0011351 "OMIM:603629" -MONDO:0011351 "ICD10:H90.3" MONDO:0011351 "UMLS:C1863655" MONDO:0011351 "MESH:C566353" MONDO:0011351 "DOID:0110479" @@ -87471,28 +85311,24 @@ MONDO:0011351 "Orphanet:90636" MONDO:0003041 "UMLS:C1332982" MONDO:0003041 "NCIT:C27374" MONDO:0003041 "DOID:4546" -MONDO:0006558 "SCTID:86081009" -MONDO:0006558 "ICD10CM:O26.4" +MONDO:0006558 "GARD:0006497" +MONDO:0006558 "DOID:0040098" MONDO:0006558 "MedDRA:10019939" MONDO:0006558 "UMLS:C0019343" -MONDO:0006558 "MESH:D006559" -MONDO:0006558 "DOID:0040098" +MONDO:0006558 "Orphanet:63275" MONDO:0006558 "Wikipedia:Gestational_pemphigoid" +MONDO:0006558 "SCTID:86081009" MONDO:0006558 "ICD9:646.80" -MONDO:0006558 "ICD10:O26.4" -MONDO:0006558 "ICD10:L12.8" -MONDO:0006558 "NCIT:C85003" -MONDO:0006558 "GARD:0006497" MONDO:0006558 "DOID:14482" -MONDO:0006558 "Orphanet:63275" +MONDO:0006558 "ICD10CM:L12.8" +MONDO:0006558 "NCIT:C85003" MONDO:0006558 "EFO:1000709" -MONDO:0006558 "ICD10:O26.40" +MONDO:0006558 "MESH:D006559" HP:0003679 "UMLS:C4025580" MONDO:0100062 "OMIM:300672" MONDO:0100062 "SCTID:230429005" MONDO:0100062 "UMLS:C0037769" MONDO:0100062 "NCIT:C84788" -MONDO:0100062 "ICD10:G40.3" MONDO:0100062 "GARD:0009255" MONDO:0100062 "OMIM:615473" MONDO:0100062 "OMIM:607208" @@ -87509,11 +85345,11 @@ MONDO:0100062 "NCIT:C122814" MONDO:0100062 "DOID:0050709" MONDO:0100062 "ICD9:345.6" MONDO:0100062 "OMIM:616341" -MONDO:0100062 "ICD10:G40.82" MONDO:0100062 "ICD9:345.10" MONDO:0100062 "MedDRA:10071545" MONDO:0100062 "OMIM:613720" MONDO:0100062 "EFO:1000643" +MONDO:0100062 "ICD10CM:G40.3" MONDO:0100062 "DOID:2481" MONDO:0100062 "OMIM:613402" MONDO:0100062 "OMIM:613722" @@ -87521,7 +85357,6 @@ MONDO:0009934 "MESH:C536590" MONDO:0009934 "EFO:1001103" MONDO:0009934 "UMLS:C0031190" MONDO:0009934 "ICD9:747.49" -MONDO:0009934 "ICD10:P29.3" MONDO:0009934 "NCIT:C98809" MONDO:0009934 "OMIM:265380" MONDO:0009934 "Orphanet:210122" @@ -87531,18 +85366,19 @@ MONDO:0009934 "MESH:D010547" MONDO:0009934 "ICD9:747.83" MONDO:0009934 "DOID:13042" MONDO:0009934 "GARD:0008644" +MONDO:0009934 "ICD10CM:P29.3" HP:0011792 "UMLS:C4023186" +MONDO:0017948 "ICD10EXP:I68.0*" MONDO:0017948 "Orphanet:324718" -MONDO:0017948 "ICD10:I68.0*" MONDO:0017948 "OMIM:605714" -MONDO:0017948 "ICD10:E85.4+" +MONDO:0017948 "ICD10EXP:E85.4+" MONDO:0009382 "OMIM:237800" CL:0002503 "FMA:84639" CL:0002503 "BTO:0002441" MONDO:0012792 "OMIM:612075" MONDO:0012792 "GARD:0013200" MONDO:0012792 "SCTID:765100000" -MONDO:0012792 "ICD10:G31.8" +MONDO:0012792 "ICD10CM:G31.8" MONDO:0012792 "Orphanet:254803" MONDO:0012792 "DOID:0080127" MONDO:0012792 "Orphanet:255235" @@ -87551,7 +85387,7 @@ MONDO:0010211 "OMIM:278720" MONDO:0010211 "GARD:0005626" MONDO:0010211 "MESH:C567886" MONDO:0010211 "NCIT:C114770" -MONDO:0010211 "ICD10:Q82.1" +MONDO:0010211 "ICD10CM:Q82.1" MONDO:0010211 "SCTID:25784009" MONDO:0010211 "Orphanet:910" MONDO:0010211 "DOID:0110844" @@ -87559,7 +85395,6 @@ MONDO:0010211 "Orphanet:276255" MONDO:0010211 "UMLS:C2752147" MONDO:0020569 "Orphanet:99989" MONDO:0020569 "UMLS:CN207495" -MONDO:0008487 "ICD10:E28.2" MONDO:0008487 "EFO:0000660" MONDO:0008487 "SCTID:69878008" MONDO:0008487 "UMLS:C0032460" @@ -87574,7 +85409,7 @@ MONDO:0024715 "UMLS:C0221289" MONDO:0024715 "NCIT:C3829" MONDO:0018552 "SCTID:451030007" MONDO:0018552 "UMLS:CN237553" -MONDO:0018552 "ICD10:Q64.4" +MONDO:0018552 "ICD10CM:Q64.4" MONDO:0018552 "Orphanet:431344" MONDO:0016936 "Orphanet:262682" MONDO:0001387 "UMLS:C0238352" @@ -87587,13 +85422,13 @@ MONDO:0014179 "Orphanet:52430" MONDO:0002333 "HP:0025059" MONDO:0002333 "NCIT:C35347" MONDO:0002333 "DOID:2530" -MONDO:0002333 "ICD10:D73.3" +MONDO:0002333 "ICD10CM:D73.3" MONDO:0002333 "UMLS:C0272412" MONDO:0002333 "ICD9:289.59" MONDO:0002333 "SCTID:82053000" MONDO:0020406 "UMLS:CN207278" -MONDO:0020406 "ICD10:Q21.2" MONDO:0020406 "Orphanet:99066" +MONDO:0020406 "ICD10CM:Q21.2" HP:0001929 "MSH:D005173" HP:0001929 "UMLS:C0015523" HP:0001929 "SNOMEDCT_US:49762007" @@ -87604,29 +85439,28 @@ MONDO:0011613 "Orphanet:2828" MONDO:0001270 "DOID:11354" MONDO:0001270 "ICD9:594.0" MONDO:0001270 "UMLS:C0156265" -MONDO:0001270 "ICD10:N21.0" MONDO:0001270 "SCTID:18109005" +MONDO:0016865 "ICD10CM:Q87.8" MONDO:0016865 "UMLS:CN202210" MONDO:0016865 "Orphanet:261652" -MONDO:0016865 "ICD10:Q87.8" MONDO:0003958 "UMLS:C1332954" MONDO:0003958 "DOID:6654" MONDO:0003958 "NCIT:C27405" MONDO:0019584 "Orphanet:90399" -MONDO:0019584 "ICD10:L98.5" +MONDO:0019584 "ICD10CM:L98.5" +MONDO:0019237 "ICD10CM:G40.8" MONDO:0019237 "Orphanet:79192" -MONDO:0019237 "ICD10:G40.8" MONDO:0019237 "UMLS:CN227600" -MONDO:0017150 "ICD10:I27.2" MONDO:0017150 "EFO:0009193" MONDO:0017150 "UMLS:CN202577" MONDO:0017150 "Orphanet:275791" +MONDO:0017150 "ICD10CM:I27.2" MONDO:0002789 "DOID:3850" MONDO:0002789 "NCIT:C7076" MONDO:0002789 "EFO:1000289" MONDO:0002789 "UMLS:C0476144" +MONDO:0017540 "ICD10CM:Q69.2" MONDO:0017540 "Orphanet:295181" -MONDO:0017540 "ICD10:Q69.2" MONDO:0023076 "ICD9:704.8" MONDO:0023076 "GARD:0008534" MONDO:0023076 "MESH:C535953" @@ -87639,6 +85473,7 @@ MONDO:0006278 "UMLS:C0281373" MONDO:0006278 "NCIT:C8295" MONDO:0006278 "EFO:1000335" MONDO:0021764 "GARD:0000495" +MONDO:0000204 "OMIMPS:156610" MONDO:0010854 "UMLS:C1838329" MONDO:0010854 "SCTID:723554006" MONDO:0010854 "GARD:0010366" @@ -87646,7 +85481,6 @@ MONDO:0010854 "OMIM:600268" MONDO:0010854 "MESH:C563969" MONDO:0010854 "DOID:0111705" MONDO:0010854 "Orphanet:3339" -MONDO:0000204 "OMIMPS:156610" MONDO:0006107 "UMLS:C0154038" MONDO:0006107 "ICD9:226" MONDO:0006107 "EFO:1000122" @@ -87656,40 +85490,40 @@ MONDO:0000618 "DOID:0060080" NCBITaxon:3750 "GC_ID:1" MONDO:0015223 "Orphanet:108997" MONDO:0016781 "Orphanet:254528" +MONDO:0016781 "ICD10CM:Q93.5" MONDO:0016781 "UMLS:CN202037" -MONDO:0016781 "ICD10:Q93.5" MONDO:0001777 "UMLS:C0153191" MONDO:0001777 "SCTID:24868007" MONDO:0001777 "DOID:13690" MONDO:0001777 "ICD9:098.11" MONDO:0017423 "Orphanet:294935" -MONDO:0017423 "ICD10:Q71.6" -MONDO:0017423 "ICD10:Q72.7" +MONDO:0017423 "ICD10CM:Q72.7" +MONDO:0017423 "ICD10CM:Q71.6" MONDO:0018981 "Orphanet:64545" -MONDO:0018981 "ICD10:G40.4" +MONDO:0018981 "ICD10CM:G40.4" MONDO:0018981 "UMLS:CN205419" MONDO:0008745 "ICD9:270.2" MONDO:0008745 "SCTID:6483008" -MONDO:0008745 "ICD10:E70.3" MONDO:0008745 "Orphanet:79431" MONDO:0008745 "Orphanet:352731" MONDO:0008745 "DOID:0070094" MONDO:0008745 "OMIM:203100" +MONDO:0008745 "ICD10CM:E70.3" NCBITaxon:157 "PMID:9734025" NCBITaxon:157 "PMID:9019153" NCBITaxon:157 "GC_ID:11" NCBITaxon:157 "PMID:23961314" MONDO:0007548 "OMIM:131705" MONDO:0007548 "UMLS:C1851573" -MONDO:0007548 "ICD10:Q81.2" MONDO:0007548 "Orphanet:79411" MONDO:0007548 "MESH:C536979" MONDO:0007548 "GARD:0010010" MONDO:0007548 "DOID:0111345" +MONDO:0007548 "ICD10CM:Q81.2" MONDO:0008059 "DOID:0111528" MONDO:0008059 "OMIM:161000" -MONDO:0008059 "ICD10:Q82.4" MONDO:0008059 "Orphanet:69087" +MONDO:0008059 "ICD10CM:Q82.4" MONDO:0008059 "SCTID:239084001" MONDO:0008059 "MESH:C538331" MONDO:0008059 "GARD:0003912" @@ -87701,13 +85535,13 @@ MONDO:0006747 "EFO:1000922" MONDO:0006747 "ICD9:799.89" MONDO:0010749 "MESH:C536620" MONDO:0010749 "SCTID:733066002" -MONDO:0010749 "ICD10:Q87.0" MONDO:0010749 "GARD:0000243" +MONDO:0010749 "ICD10CM:Q87.0" MONDO:0010749 "OMIM:314320" MONDO:0010749 "Orphanet:3369" MONDO:0016664 "Orphanet:251325" -MONDO:0016664 "ICD10:M31.8" MONDO:0016664 "UMLS:C3812646" +MONDO:0016664 "ICD10CM:M31.8" MONDO:0016664 "NCIT:C112204" MONDO:0013786 "UMLS:C3281045" MONDO:0013786 "DOID:0111022" @@ -87721,7 +85555,7 @@ MONDO:0004379 "UMLS:C0007104" MONDO:0004379 "SCTID:447782002" MONDO:0004379 "SCTID:372064008" MONDO:0016509 "UMLS:CN201521" -MONDO:0016509 "ICD10:Q15.8" +MONDO:0016509 "ICD10CM:Q15.8" MONDO:0016509 "GARD:0010938" MONDO:0016509 "Orphanet:231736" MONDO:0011201 "MESH:C536546" @@ -87730,7 +85564,7 @@ MONDO:0011201 "GARD:0009500" MONDO:0011201 "OMIM:602134" NCBITaxon:730 "GC_ID:11" MONDO:0009477 "Orphanet:506307" -MONDO:0009477 "ICD10:Q87.8" +MONDO:0009477 "ICD10CM:Q87.8" MONDO:0009477 "OMIM:616369" MONDO:0009477 "MESH:C565460" MONDO:0009477 "DOID:0110595" @@ -87738,6 +85572,8 @@ MONDO:0009477 "EFO:0009160" MONDO:0009477 "OMIM:243605" MONDO:0009477 "UMLS:CN237682" MONDO:0009477 "Orphanet:444069" +MONDO:0024883 "ICDO:8000/6" +MONDO:0024883 "NCIT:C3261" MONDO:0012384 "OMIM:609985" MONDO:0012384 "UMLS:C1864946" MONDO:0011130 "GARD:0010031" @@ -87746,16 +85582,13 @@ MONDO:0011130 "UMLS:C1866428" MONDO:0011130 "OMIM:601700" MONDO:0002264 "DOID:2301" MONDO:0002264 "ICD9:602.2" -MONDO:0002264 "ICD10:N42.2" MONDO:0002264 "UMLS:C0156296" +MONDO:0002264 "ICD10CM:N42.2" MONDO:0002264 "SCTID:29524003" -MONDO:0024883 "ICDO:8000/6" -MONDO:0024883 "NCIT:C3261" MONDO:0024536 "Orphanet:361" MONDO:0024536 "DOID:0080621" MONDO:0024536 "OMIM:202200" MONDO:0024536 "UMLS:C1859974" -MONDO:0012603 "ICD10:G24.8" MONDO:0012603 "DOID:0090054" MONDO:0012603 "MESH:C567026" MONDO:0012603 "UMLS:C1970238" @@ -87774,11 +85607,11 @@ MONDO:0005640 "EFO:0007138" MONDO:0005640 "MESH:D000405" MONDO:0004976 "Orphanet:803" MONDO:0004976 "NIFSTD:birnlex_12566" +MONDO:0004976 "ICD10CM:G12.2" MONDO:0004976 "DOID:332" MONDO:0004976 "EFO:0000253" MONDO:0004976 "ICD9:335.20" -MONDO:0004976 "ICD10:G12.2" -MONDO:0004976 "ICD10:G12.21" +MONDO:0004976 "ICD10CM:G12.21" MONDO:0004976 "MESH:D000690" MONDO:0004976 "SCTID:86044005" MONDO:0004976 "NCIT:C34373" @@ -87787,16 +85620,16 @@ MONDO:0004976 "MedDRA:10002026" MONDO:0004976 "GARD:0005786" MONDO:0004976 "KEGG:05014" MONDO:0019016 "UMLS:CN924917" -MONDO:0019016 "ICD10:H49.4" +MONDO:0019016 "ICD10CM:H49.4" MONDO:0019016 "Orphanet:663" HP:0002167 "MSH:D013064" HP:0002167 "UMLS:C0037822" MONDO:0005618 "NCIT:C2878" -MONDO:0005618 "ICD10:F41.9" MONDO:0005618 "DOID:2030" MONDO:0005618 "MESH:D001008" MONDO:0005618 "ICD9:300.09" MONDO:0005618 "EFO:0006788" +MONDO:0005618 "ICD10CM:F40-F48" MONDO:0005618 "OMIM:607834" MONDO:0005618 "SCTID:197480006" MONDO:0021367 "MESH:D015465" @@ -87806,7 +85639,6 @@ MONDO:0012571 "MESH:C567057" MONDO:0012571 "UMLS:C1970506" MONDO:0012571 "DOID:0110606" MONDO:0012571 "OMIM:610852" -MONDO:0012571 "ICD10:Q34.8" HP:0000175 "UMLS:C0008925" HP:0000175 "SNOMEDCT_US:63567004" HP:0000175 "MSH:D002972" @@ -87817,11 +85649,10 @@ NCBITaxon:68336 "GC_ID:11" MONDO:0016938 "SCTID:726360002" MONDO:0016938 "UMLS:C4518509" MONDO:0016938 "Orphanet:262692" -MONDO:0018155 "ICD10:G12.2" MONDO:0018155 "OMIM:611637" MONDO:0018155 "NCIT:C129933" MONDO:0018155 "UMLS:C0154682" -MONDO:0018155 "ICD10:G12.29" +MONDO:0018155 "ICD10CM:G12.2" MONDO:0018155 "GARD:0010684" MONDO:0018155 "MESH:D016472" MONDO:0018155 "SCTID:81211007" @@ -87830,21 +85661,19 @@ MONDO:0018155 "ICD9:335.24" MONDO:0018155 "Orphanet:35689" MONDO:0018155 "DOID:230" MONDO:0015769 "SCTID:722430008" -MONDO:0015769 "ICD10:Q92.3" MONDO:0015769 "UMLS:C4302551" MONDO:0015769 "Orphanet:1745" MONDO:0011615 "OMIM:605913" MONDO:0011615 "Orphanet:391320" MONDO:0011615 "MESH:C565275" MONDO:0011615 "UMLS:C1853831" -MONDO:0011615 "ICD10:D68.2" +MONDO:0011615 "ICD10CM:D68.2" MONDO:0001608 "NCIT:C5831" MONDO:0001608 "UMLS:C1263901" MONDO:0001608 "ICD9:239.7" MONDO:0001608 "DOID:12984" MONDO:0001608 "SCTID:126976007" MONDO:0005148 "SCTID:44054006" -MONDO:0005148 "ICD10:E11" MONDO:0005148 "OMIM:616087" MONDO:0005148 "OMIM:125853" MONDO:0005148 "KEGG:04930" @@ -87859,18 +85688,18 @@ MONDO:0005148 "OMIM:601407" MONDO:0005148 "UMLS:CN244395" MONDO:0004859 "UMLS:C0152445" MONDO:0004859 "ICD9:575.3" -MONDO:0004859 "ICD10:K82.1" +MONDO:0004859 "ICD10CM:K82.1" MONDO:0004859 "DOID:9717" MONDO:0004859 "SCTID:47312008" MONDO:0006222 "UMLS:C2987398" MONDO:0006222 "NCIT:C95749" MONDO:0006222 "EFO:1000269" MONDO:0007780 "GARD:0000957" -MONDO:0007780 "ICD10:Q87.0" MONDO:0007780 "SCTID:724284005" MONDO:0007780 "UMLS:CN199596" MONDO:0007780 "Orphanet:1519" MONDO:0007780 "OMIM:145420" +MONDO:0007780 "ICD10CM:Q87.0" MONDO:0007780 "UMLS:C0796179" MONDO:0003808 "NCIT:C6615" MONDO:0003808 "UMLS:C1334675" @@ -87893,7 +85722,7 @@ MONDO:0012187 "OMIM:609054" MONDO:0044750 "UMLS:C1617072" MONDO:0044750 "SCTID:721779001" MONDO:0016373 "Orphanet:221106" -MONDO:0016373 "ICD10:G51.4" +MONDO:0016373 "ICD10CM:G51.4" MONDO:0005463 "UMLS:C0428791" MONDO:0005463 "SCTID:250978003" MONDO:0005463 "EFO:0005239" @@ -87902,17 +85731,22 @@ MONDO:0007663 "MESH:C564235" MONDO:0007663 "UMLS:C1842030" MONDO:0007663 "OMIM:137700" MONDO:0014776 "EFO:0009059" -MONDO:0014776 "ICD10:G11.8" +MONDO:0014776 "ICD10CM:G11.8" MONDO:0014776 "DOID:0111742" MONDO:0014776 "OMIM:616795" MONDO:0014776 "NCIT:C171269" MONDO:0014776 "UMLS:C4225205" MONDO:0014776 "Orphanet:458803" +MONDO:0003900 "ICD10CM:M30-M36" MONDO:0003900 "NCIT:C26729" MONDO:0003900 "SCTID:105969002" MONDO:0003900 "DOID:65" +MONDO:0003900 "ICD10CM:M91-M94" MONDO:0003900 "MESH:D003240" +MONDO:0003900 "ICD10CM:M00-M99" MONDO:0003900 "UMLS:C0009782" +MONDO:0003900 "ICD10CM:M70-M79" +MONDO:0003900 "ICD10CM:M95-M95" MONDO:0005369 "ICD9:209.60" MONDO:0005369 "NCIT:C2915" MONDO:0005369 "OMIM:114900" @@ -87924,13 +85758,12 @@ MONDO:0005369 "SCTID:443492008" MONDO:0005369 "ICDO:8240/3" MONDO:0005369 "ICDO:8241/3" MONDO:0019727 "UMLS:CN206634" +MONDO:0019727 "ICD10CM:D89.1" MONDO:0019727 "Orphanet:93555" -MONDO:0019727 "ICD10:D89.1" MONDO:0004568 "NCIT:C93045" MONDO:0004568 "UMLS:C0030446" MONDO:0004568 "DOID:8442" MONDO:0004568 "MESH:D007418" -MONDO:0004568 "ICD10:K56.0" MONDO:0004568 "ICD9:560.1" MONDO:0004568 "SCTID:55525008" MONDO:0004568 "HP:0002590" @@ -87954,16 +85787,16 @@ MONDO:0011436 "DOID:0111064" MONDO:0011436 "Orphanet:98920" MONDO:0011436 "UMLS:C1858517" MONDO:0011436 "OMIM:604320" +MONDO:0011436 "ICD10CM:G12.2" MONDO:0011436 "MESH:C536880" -MONDO:0011436 "ICD10:G12.2" MONDO:0011436 "GARD:0008592" MONDO:0011436 "SCTID:711483003" MONDO:0001942 "EFO:1001892" -MONDO:0001942 "ICD10:F41.1" MONDO:0001942 "ICD9:300.02" MONDO:0001942 "DOID:14320" MONDO:0001942 "SCTID:21897009" MONDO:0001942 "NCIT:C92622" +MONDO:0001942 "ICD10CM:F41.1" MONDO:0013636 "OMIM:614220" MONDO:0013636 "Orphanet:186" MONDO:0013636 "UMLS:C3280201" @@ -87974,12 +85807,12 @@ MONDO:0006630 "SCTID:8847002" MONDO:0006630 "MESH:D055013" MONDO:0006630 "EFO:1000787" NCBITaxon:90339 "GC_ID:1" -MONDO:0019914 "ICD10:Q99.8" +MONDO:0019914 "ICD10CM:Q99.8" MONDO:0019914 "SCTID:766240006" MONDO:0019914 "Orphanet:96183" MONDO:0009069 "MESH:C537004" MONDO:0009069 "OMIM:220111" -MONDO:0009069 "ICD10:G31.8" +MONDO:0009069 "ICD10CM:G31.8" MONDO:0009069 "SCTID:718219002" MONDO:0009069 "GARD:0008370" MONDO:0009069 "Orphanet:70472" @@ -87988,17 +85821,15 @@ MONDO:0023577 "MESH:C537619" MONDO:0023577 "UMLS:C2931550" MONDO:0023577 "GARD:0003144" MONDO:0018717 "Orphanet:458792" -MONDO:0018717 "ICD10:D18.1" +MONDO:0018717 "ICD10CM:D18.1" MONDO:0032654 "OMIM:618282" MONDO:0032654 "DOID:0080595" -MONDO:0006608 "ICD10:L21.9" MONDO:0006608 "MESH:D012628" MONDO:0006608 "UMLS:C0036508" MONDO:0006608 "HP:0001051" MONDO:0006608 "ICD9:706.3" MONDO:0006608 "ICD9:690.1" MONDO:0006608 "NCIT:C111888" -MONDO:0006608 "ICD10:L21" MONDO:0006608 "EFO:1000764" MONDO:0006608 "ICD9:690.10" MONDO:0006608 "DOID:8741" @@ -88018,12 +85849,12 @@ MONDO:0022357 "GARD:0009823" MONDO:0020270 "Orphanet:98700" MONDO:0020270 "UMLS:CN227844" MONDO:0010034 "OMIM:270350" -MONDO:0012877 "OMIM:612357" -MONDO:0012877 "MESH:C567530" MONDO:0010424 "MESH:C567461" MONDO:0010424 "Orphanet:264675" MONDO:0010424 "UMLS:C2677877" MONDO:0010424 "OMIM:300770" +MONDO:0012877 "OMIM:612357" +MONDO:0012877 "MESH:C567530" HP:0003826 "SNOMEDCT_US:237364002" HP:0003826 "MSH:D050497" HP:0003826 "UMLS:C0015927" @@ -88036,6 +85867,7 @@ MONDO:0009256 "OMIM:230300" MONDO:0009256 "MESH:D005687" MONDO:0009256 "ICD9:611.6" MONDO:0009256 "NCIT:C113343" +MONDO:0016759 "ICD10CM:Q04.3" MONDO:0016759 "Orphanet:2524" MONDO:0016759 "OMIM:612389" MONDO:0016759 "OMIM:277470" @@ -88045,34 +85877,32 @@ MONDO:0016759 "NCIT:C124057" MONDO:0016759 "OMIM:612390" MONDO:0016759 "SCTID:715463008" MONDO:0016759 "OMIM:617026" -MONDO:0016759 "ICD10:Q04.3" MONDO:0016759 "MESH:C548070" MONDO:0016759 "UMLS:C2932714" MONDO:0012605 "Orphanet:251279" +MONDO:0012605 "ICD10CM:Q15.8" MONDO:0012605 "UMLS:C1970236" MONDO:0012605 "MESH:C567024" MONDO:0012605 "OMIM:611040" -MONDO:0012605 "ICD10:Q15.8" MONDO:0012605 "DOID:0060837" -MONDO:0007212 "ICD10:Q87.2" MONDO:0007212 "MESH:C566204" MONDO:0007212 "GARD:0000968" MONDO:0007212 "SCTID:733454004" +MONDO:0007212 "ICD10CM:Q87.2" MONDO:0007212 "Orphanet:2946" MONDO:0007212 "UMLS:C1862169" MONDO:0007212 "OMIM:112430" MONDO:0004826 "SCTID:20342001" MONDO:0004826 "UMLS:C0162301" -MONDO:0004826 "ICD10:N21.1" MONDO:0004826 "ICD9:594.2" MONDO:0004826 "NCIT:C26995" MONDO:0004826 "DOID:9589" MONDO:0010392 "OMIM:300653" +MONDO:0010392 "ICD10CM:E74.0" MONDO:0010392 "Orphanet:713" MONDO:0010392 "MESH:C567067" MONDO:0010392 "GARD:0007389" MONDO:0010392 "UMLS:C1970848" -MONDO:0010392 "ICD10:E74.0" MONDO:0010392 "NCIT:C126738" MONDO:0020619 "OMIM:111600" NCBITaxon:685953 "GC_ID:1" @@ -88081,34 +85911,34 @@ MONDO:0014251 "Orphanet:31202" MONDO:0013481 "OMIM:613884" MONDO:0013481 "NCIT:C36421" MONDO:0013481 "DOID:0060391" -MONDO:0013481 "ICD10:Q93.5" MONDO:0013481 "MESH:C535484" MONDO:0013481 "Orphanet:1587" -MONDO:0017363 "ICD10:J82" +MONDO:0013481 "ICD10CM:Q93.5" MONDO:0017363 "Orphanet:2902" +MONDO:0017363 "ICD10CM:J82" MONDO:0017363 "GARD:0001130" MONDO:0017363 "MESH:C535590" MONDO:0018005 "UMLS:CN204217" -MONDO:0018005 "ICD10:G11.4" +MONDO:0018005 "ICD10CM:G11.4" MONDO:0018005 "Orphanet:329475" MONDO:0018648 "UMLS:CN237705" MONDO:0018648 "NCIT:C54302" MONDO:0018648 "UMLS:C1708604" -MONDO:0018648 "ICD10:D16.4" MONDO:0018648 "SCTID:713277006" MONDO:0018648 "Orphanet:447777" +MONDO:0018648 "ICD10CM:D16.4" MONDO:0005558 "DOID:1100" MONDO:0005558 "EFO:0005771" MONDO:0005558 "SCTID:5552004" MONDO:0005558 "NCIT:C26841" MONDO:0005558 "MESH:D010049" MONDO:0005558 "UMLS:C0029928" -MONDO:0017246 "ICD10:Q33.2" +MONDO:0017246 "ICD10CM:Q33.2" MONDO:0017246 "Orphanet:280811" MONDO:0008127 "Orphanet:2741" MONDO:0008127 "SCTID:715484003" -MONDO:0008127 "ICD10:Q87.8" MONDO:0008127 "UMLS:C1833872" +MONDO:0008127 "ICD10CM:Q87.8" MONDO:0008127 "MESH:C563501" MONDO:0008127 "GARD:0004365" MONDO:0008127 "OMIM:164900" @@ -88120,7 +85950,6 @@ MONDO:0002087 "DOID:1725" MONDO:0002087 "NCIT:C3538" MONDO:0002087 "ICD9:158.8" MONDO:0002087 "UMLS:C0153467" -MONDO:0002087 "ICD10:C48.1" MONDO:0002087 "SCTID:363492001" MONDO:0002087 "ICD9:158.9" MONDO:0002087 "ICD9:159.8" @@ -88135,17 +85964,16 @@ MONDO:0005313 "NCIT:C84915" MONDO:0024285 "SCTID:60620005" MONDO:0024285 "UMLS:C0272254" MONDO:0024285 "ICD9:273.2" -MONDO:0001721 "ICD10:N36.42" MONDO:0001721 "ICD9:599.82" MONDO:0001721 "DOID:13461" MONDO:0001721 "UMLS:C0375381" MONDO:0060688 "OMIM:617953" MONDO:0060688 "UMLS:CN244571" +MONDO:0014626 "ICD10CM:G11.2" MONDO:0014626 "UMLS:C4225158" MONDO:0014626 "DOID:0111744" MONDO:0014626 "EFO:0009058" MONDO:0014626 "Orphanet:458798" -MONDO:0014626 "ICD10:G11.2" MONDO:0014626 "OMIM:616410" NCBITaxon:1350 "PMID:9103648" NCBITaxon:1350 "PMID:8427810" @@ -88161,8 +85989,8 @@ MONDO:0016234 "UMLS:CN226888" MONDO:0016234 "Orphanet:211266" MONDO:0014555 "OMIM:616265" MONDO:0014555 "Orphanet:263548" +MONDO:0014555 "ICD10CM:Q80.8" MONDO:0014555 "UMLS:C4015729" -MONDO:0014555 "ICD10:Q80.8" MONDO:0014555 "Orphanet:263543" MONDO:0001075 "SCTID:27868004" MONDO:0001075 "MESH:D045602" @@ -88171,27 +85999,26 @@ MONDO:0001075 "DOID:10602" MONDO:0001075 "NCIT:C86917" MONDO:0032843 "OMIM:618637" MONDO:0019610 "NCIT:C3453" -MONDO:0019610 "ICD10:D37.7" +MONDO:0019610 "ICD10CM:C25.4" MONDO:0019610 "UMLS:C0043515" MONDO:0019610 "GARD:0007918" MONDO:0019610 "DOID:0050782" -MONDO:0019610 "ICD10:E16.4" MONDO:0019610 "MESH:D015043" MONDO:0019610 "SCTID:53132006" MONDO:0019610 "HP:0002044" -MONDO:0019610 "ICD10:C25.4" MONDO:0019610 "MedDRA:10017852" MONDO:0019610 "EFO:0007549" +MONDO:0019610 "ICD10CM:E16.4" MONDO:0019610 "MESH:D015408" MONDO:0019610 "Orphanet:913" -MONDO:0015433 "ICD10:Q93.2" MONDO:0015433 "MESH:C538046" +MONDO:0015433 "ICD10CM:Q93.2" MONDO:0015433 "GARD:0004724" MONDO:0015433 "Orphanet:1441" HP:0000847 "UMLS:C4021793" MONDO:0019175 "Orphanet:77240" MONDO:0019175 "NCIT:C48829" -MONDO:0019175 "ICD10:I89.0" +MONDO:0019175 "ICD10CM:I89.0" MONDO:0021398 "UMLS:C0034887" MONDO:0021398 "SCTID:39772007" MONDO:0021398 "NCIT:C3351" @@ -88200,40 +86027,35 @@ MONDO:0001229 "SCTID:56165008" MONDO:0001229 "UMLS:C0156164" MONDO:0001229 "ICD9:562.01" MONDO:0001229 "DOID:11223" -MONDO:0002303 "ICD10:H34.81" +MONDO:0021227 "ONCOTREE:ADRENALGLAND" +MONDO:0021227 "EFO:0003850" +MONDO:0021227 "NCIT:C2859" MONDO:0002303 "Orphanet:411527" MONDO:0002303 "DOID:2450" MONDO:0002303 "SCTID:68478007" MONDO:0002303 "ICD9:362.35" MONDO:0002303 "NCIT:C118859" MONDO:0002303 "UMLS:C0154841" -MONDO:0021227 "ONCOTREE:ADRENALGLAND" -MONDO:0021227 "EFO:0003850" -MONDO:0021227 "NCIT:C2859" -MONDO:0003861 "NCIT:C40305" -MONDO:0003861 "UMLS:C2202743" -MONDO:0003861 "DOID:6339" -MONDO:0011438 "ICD10:L70" MONDO:0011438 "HP:0001061" MONDO:0011438 "OMIM:604324" MONDO:0011438 "ICD9:706.0" -MONDO:0011438 "ICD10:L70.9" MONDO:0011438 "MTH:217" MONDO:0011438 "EFO:0003894" -MONDO:0011438 "ICD10:L70.2" MONDO:0011438 "DOID:6543" MONDO:0011438 "NCIT:C27195" +MONDO:0003861 "NCIT:C40305" +MONDO:0003861 "UMLS:C2202743" +MONDO:0003861 "DOID:6339" MONDO:0006045 "NCIT:C40078" +MONDO:0006045 "ICD10CM:C56" MONDO:0006045 "EFO:1000042" MONDO:0006045 "Orphanet:398971" MONDO:0006045 "UMLS:C1518693" MONDO:0006045 "UMLS:CN205034" -MONDO:0006045 "ICD10:C56" MONDO:0006045 "DOID:5304" MONDO:0006045 "SCTID:763131005" MONDO:0013638 "UMLS:C3280203" MONDO:0013638 "Orphanet:2510" -MONDO:0013638 "ICD10:Q87.0" MONDO:0013638 "OMIM:614222" MONDO:0013638 "DOID:0110718" MONDO:0017612 "SCTID:33662006" @@ -88252,8 +86074,8 @@ NCBITaxon:815 "GC_ID:11" MONDO:0008934 "OMIM:212835" MONDO:0008934 "MESH:C535350" MONDO:0008934 "Orphanet:1174" +MONDO:0008934 "ICD10CM:G11.1" MONDO:0008934 "UMLS:C1859306" -MONDO:0008934 "ICD10:G11.1" MONDO:0008934 "GARD:0001189" MONDO:0008934 "SCTID:715371006" MONDO:0012597 "MESH:C567031" @@ -88261,21 +86083,21 @@ MONDO:0012597 "OMIM:610997" MONDO:0012597 "UMLS:C1970250" NCBITaxon:1485168 "GC_ID:1" MONDO:0018186 "Orphanet:363203" -MONDO:0018186 "ICD10:Q93.2" MONDO:0018186 "NCIT:C3360" MONDO:0018186 "MESH:D012303" +MONDO:0018186 "ICD10CM:Q93.2" MONDO:0030918 "DOID:0080231" MONDO:0030918 "OMIM:617796" MONDO:0030918 "UMLS:CN671932" MONDO:0030918 "EFO:0009152" +MONDO:0016874 "ICD10CM:Q93.5" MONDO:0016874 "Orphanet:261806" -MONDO:0016874 "ICD10:Q93.5" MONDO:0001544 "DOID:12529" MONDO:0001544 "SCTID:365258000" MONDO:0001544 "UMLS:C0154751" MONDO:0001544 "ICD9:355.8" MONDO:0010426 "UMLS:C2749049" -MONDO:0010426 "ICD10:H18.5" +MONDO:0010426 "ICD10CM:H18.5" MONDO:0010426 "DOID:0060446" MONDO:0010426 "SCTID:718579008" MONDO:0010426 "Orphanet:293621" @@ -88295,8 +86117,8 @@ MONDO:0005033 "EFO:0000500" MONDO:0005033 "ICD9:215.9" MONDO:0005033 "DOID:4817" MONDO:0005033 "UMLS:C0017075" +MONDO:0005033 "ICD10CM:D36.1" MONDO:0005033 "SCTID:116371000119107" -MONDO:0005033 "ICD10:D36.1" MONDO:0005033 "ONCOTREE:GN" MONDO:0005033 "HP:0003005" MONDO:0005033 "ICDO:9490/0" @@ -88304,9 +86126,9 @@ MONDO:0005033 "NCIT:C3049" MONDO:0005033 "MESH:D005729" MONDO:0005033 "Orphanet:251992" MONDO:0005033 "MedDRA:10017709" -MONDO:0015830 "ICD10:Q51.8" +MONDO:0015830 "ICD10CM:Q51.8" MONDO:0015830 "Orphanet:180068" -MONDO:0007486 "ICD10:Q82.8" +MONDO:0007486 "ICD10CM:Q82.8" MONDO:0007486 "Orphanet:352657" MONDO:0007486 "MESH:C562551" MONDO:0007486 "NCIT:C3940" @@ -88324,9 +86146,9 @@ MONDO:0100375 "NCIT:C36055" MONDO:0100375 "NCIT:C27758" MONDO:0010203 "UMLS:C1848439" MONDO:0010203 "Orphanet:3080" +MONDO:0010203 "ICD10CM:Q87.0" MONDO:0010203 "OMIM:277990" MONDO:0010203 "MESH:C537448" -MONDO:0010203 "ICD10:Q87.0" NCBITaxon:236781 "GC_ID:1" MONDO:0043257 "HGNC:3048" MONDO:0043257 "SCTID:46459009" @@ -88334,12 +86156,12 @@ MONDO:0043257 "UMLS:C0263314" MONDO:0043257 "GARD:0007353" MONDO:0043257 "MESH:C535551" MONDO:0004828 "ICD9:594.8" -MONDO:0004828 "ICD10:N21" MONDO:0004828 "DOID:9590" MONDO:0004828 "ICD9:594" +MONDO:0004828 "ICD10CM:N21" MONDO:0004828 "SCTID:79509009" MONDO:0004828 "ICD9:594.9" -MONDO:0004828 "ICD10:N21.9" +MONDO:0004828 "ICD10CM:N21.9" MONDO:0004828 "UMLS:C0156264" MONDO:0003098 "DOID:4691" MONDO:0003098 "UMLS:C1334672" @@ -88348,39 +86170,35 @@ MONDO:0019780 "SCTID:57436000" MONDO:0019780 "MedDRA:10002654" MONDO:0019780 "ICD9:744.01" MONDO:0019780 "OMIM:600674" -MONDO:0019780 "ICD10:Q16.0" -MONDO:0019780 "ICD10:Q16.1" MONDO:0019780 "Orphanet:93976" MONDO:0015184 "UMLS:CN226620" MONDO:0015184 "Orphanet:104009" MONDO:0000532 "DOID:0050917" -MONDO:0021960 "NCIT:C78666" -MONDO:0021960 "UMLS:C0041959" -MONDO:0021960 "SCTID:111405003" MONDO:0009592 "MESH:C537350" MONDO:0009592 "UMLS:C1855243" MONDO:0009592 "GARD:0003519" +MONDO:0009592 "ICD10CM:Q78.5" MONDO:0009592 "OMIM:250215" MONDO:0009592 "Orphanet:1240" -MONDO:0009592 "ICD10:Q78.5" +MONDO:0021960 "NCIT:C78666" +MONDO:0021960 "UMLS:C0041959" +MONDO:0021960 "SCTID:111405003" MONDO:0010309 "UMLS:C1845810" MONDO:0010309 "MESH:C564524" MONDO:0010309 "OMIM:300372" MONDO:0018583 "Orphanet:438279" MONDO:0018583 "UMLS:CN237612" -MONDO:0018583 "ICD10:B08.0" MONDO:0011867 "OMIM:607597" MONDO:0011867 "UMLS:C1843492" MONDO:0011867 "MESH:C564370" MONDO:0008090 "GARD:0006229" +MONDO:0008090 "ICD10CM:D70" MONDO:0008090 "SCTID:191347008" MONDO:0008090 "MedDRA:10053176" -MONDO:0008090 "ICD10:D70" MONDO:0008090 "ICD9:288.02" -MONDO:0008090 "DOID:5339" MONDO:0008090 "MESH:C536227" +MONDO:0008090 "DOID:5339" MONDO:0008090 "NCIT:C3820" -MONDO:0008090 "ICD10:D70.4" MONDO:0008090 "OMIM:162800" MONDO:0008090 "Orphanet:2686" CL:0000576 "FMA:62864" @@ -88406,7 +86224,7 @@ MONDO:0010698 "OMIM:311050" MONDO:0010698 "DOID:0111443" MONDO:0010698 "UMLS:C1839576" MONDO:0010698 "Orphanet:98890" -MONDO:0010698 "ICD10:H47.2" +MONDO:0010698 "ICD10CM:H47.2" MONDO:0010698 "SCTID:721200000" MONDO:0010698 "GARD:0010199" MONDO:0010698 "MESH:C537125" @@ -88415,7 +86233,6 @@ MONDO:0014030 "OMIM:615067" MONDO:0014030 "Orphanet:244" MONDO:0014030 "UMLS:C3540844" MONDO:0014030 "DOID:0110625" -MONDO:0014030 "ICD10:Q34.8" MONDO:0020763 "OMIM:618332" MONDO:0011644 "SCTID:314428001" MONDO:0011644 "NCIT:C34903" @@ -88424,7 +86241,6 @@ MONDO:0011644 "GARD:0007339" MONDO:0011644 "UMLS:C0030593" MONDO:0011644 "MESH:D015868" MONDO:0011644 "EFO:1001088" -MONDO:0011644 "ICD10:H30.2" MONDO:0011644 "OMIM:606177" MONDO:0011644 "MedDRA:10034052" MONDO:0011644 "ICD9:363.21" @@ -88444,11 +86260,10 @@ MONDO:0015067 "NCIT:C135212" MONDO:0001973 "ICD9:023.1" MONDO:0001973 "DOID:14457" MONDO:0001973 "MESH:D002007" -MONDO:0001973 "ICD10:A23.1" MONDO:0001973 "SCTID:427795000" MONDO:0007876 "OMIM:150260" -MONDO:0007876 "ICD10:J38.0" MONDO:0007876 "ICD9:748.3" +MONDO:0007876 "ICD10CM:J38.0" MONDO:0007876 "Orphanet:2808" MONDO:0007876 "UMLS:CN202762" MONDO:0007876 "SCTID:232442001" @@ -88458,7 +86273,7 @@ MONDO:0016013 "GARD:0003575" MONDO:0016013 "MESH:D020262" MONDO:0016013 "ICD9:759.89" MONDO:0016013 "SCTID:62110005" -MONDO:0016013 "ICD10:T56.1" +MONDO:0016013 "ICD10CM:T56.1" MONDO:0012018 "SCTID:699267007" MONDO:0012018 "MESH:C564253" MONDO:0012018 "OMIM:608358" @@ -88469,20 +86284,20 @@ HP:0009064 "SNOMEDCT_US:284449005" HP:0009064 "UMLS:C0221032" HP:0009064 "MSH:D052497" HP:0009064 "SNOMEDCT_US:86907008" +MONDO:0012072 "ICD10CM:E88.1" MONDO:0012072 "DOID:0070207" MONDO:0012072 "SCTID:725035001" MONDO:0012072 "OMIM:608600" -MONDO:0012072 "ICD10:E88.1" MONDO:0012072 "GARD:0012598" MONDO:0012072 "Orphanet:79084" MONDO:0001818 "MESH:D005156" MONDO:0001818 "DOID:13865" MONDO:0001818 "ICD9:351.8" MONDO:0001818 "SCTID:4151000119102" +MONDO:0016423 "ICD10CM:E31.0" MONDO:0016423 "UMLS:C3266026" MONDO:0016423 "UMLS:CN201378" MONDO:0016423 "SCTID:449730005" -MONDO:0016423 "ICD10:E31.0" MONDO:0016423 "Orphanet:227990" MONDO:0016423 "ICD9:258.1" NCBITaxon:2605435 "GC_ID:1" @@ -88500,8 +86315,8 @@ MONDO:0002694 "DOID:3575" MONDO:0002694 "SCTID:89980009" MONDO:0002694 "MESH:D020226" MONDO:0016469 "UMLS:CN201458" +MONDO:0016469 "ICD10CM:Q79.6" MONDO:0016469 "Orphanet:230845" -MONDO:0016469 "ICD10:Q79.6" MONDO:0016469 "SCTID:720862007" MONDO:0024892 "UMLS:C1706802" MONDO:0024892 "DOID:6755" @@ -88511,21 +86326,20 @@ MONDO:0024892 "ICD9:714.32" MONDO:0018602 "Orphanet:440368" MONDO:0018602 "ICD9:136.9" MONDO:0018602 "SCTID:443928008" -MONDO:0018602 "ICD10:M72.6" MONDO:0018602 "UMLS:CN237632" MONDO:0018602 "UMLS:C2732890" +MONDO:0018602 "ICD10CM:M72.6" MONDO:0018602 "ICD9:729.99" MONDO:0014628 "Orphanet:1980" MONDO:0014628 "OMIM:616413" MONDO:0014628 "UMLS:C4225335" CL:1000296 "FMA:256165" MONDO:0012376 "MESH:C538203" -MONDO:0012376 "ICD10:H90.3" MONDO:0012376 "OMIM:609952" MONDO:0012376 "DOID:0110510" MONDO:0012376 "GARD:0009919" MONDO:0019845 "Orphanet:95619" -MONDO:0019845 "ICD10:E23.1" +MONDO:0019845 "ICD10CM:E23.1" MONDO:0014229 "Orphanet:2470" MONDO:0014229 "OMIM:615524" MONDO:0014229 "GARD:0013235" @@ -88533,7 +86347,7 @@ MONDO:0014229 "UMLS:C3809803" MONDO:0013459 "OMIM:613848" MONDO:0013459 "UMLS:C3151211" MONDO:0013459 "Orphanet:216812" -MONDO:0013459 "ICD10:Q78.0" +MONDO:0013459 "ICD10CM:Q78.0" MONDO:0013459 "GARD:0012874" MONDO:0013459 "DOID:0110346" MONDO:0009850 "UMLS:C0266929" @@ -88541,17 +86355,16 @@ MONDO:0009850 "SCTID:74797001" MONDO:0009850 "OMIM:260950" MONDO:0014405 "Orphanet:425120" MONDO:0014405 "UMLS:C4014722" +MONDO:0014405 "ICD10CM:M35.8" MONDO:0014405 "DOID:0111457" MONDO:0014405 "OMIM:615934" MONDO:0014405 "ICD9:279.8" MONDO:0014405 "SCTID:711164003" -MONDO:0014405 "ICD10:M35.8" MONDO:0014405 "UMLS:C4040879" MONDO:0014405 "GARD:0012357" MONDO:0017864 "SCTID:234062003" MONDO:0017864 "UMLS:C0340756" MONDO:0017864 "Orphanet:3188" -MONDO:0017864 "ICD10:Q26.3" MONDO:0017864 "GARD:0004598" MONDO:0060549 "OMIM:617641" MONDO:0060549 "UMLS:C4539968" @@ -88559,10 +86372,10 @@ MONDO:0019025 "NCIT:C7136" MONDO:0019025 "DOID:4659" MONDO:0019025 "SCTID:63175003" MONDO:0019025 "Orphanet:66662" +MONDO:0019025 "ICD10CM:C96.2" MONDO:0019025 "UMLS:C0272202" MONDO:0019025 "EFO:1000932" MONDO:0019025 "ICDO:9740/1" -MONDO:0019025 "ICD10:C96.2" MONDO:0021290 "UMLS:C0347125" MONDO:0021290 "NCIT:C4593" MONDO:0021290 "SCTID:92539008" @@ -88575,7 +86388,6 @@ MONDO:0021680 "NCIT:C87062" MONDO:0021680 "ICD9:041.09" MONDO:0021680 "MESH:D013290" MONDO:0016820 "Orphanet:2573" -MONDO:0016820 "ICD10:I67.5" MONDO:0016820 "OMIM:614042" MONDO:0016820 "MESH:D009072" MONDO:0016820 "OMIMPS:252350" @@ -88594,18 +86406,15 @@ MONDO:0016820 "MedDRA:10028047" MONDO:0016820 "OMIM:607151" MONDO:0016820 "SCTID:89142007" MONDO:0016820 "UMLS:C0026654" -MONDO:0020483 "ICD10:G71.1" MONDO:0020483 "OMIM:608390" +MONDO:0020483 "ICD10CM:G71.1" MONDO:0020483 "Orphanet:99736" MONDO:0020483 "SCTID:715793003" -MONDO:0012447 "ICD10:Q70.0" MONDO:0012447 "Orphanet:93403" MONDO:0012447 "UMLS:C1853255" MONDO:0012447 "MESH:C565216" MONDO:0012447 "Orphanet:295199" MONDO:0012447 "OMIM:610234" -MONDO:0012447 "ICD10:Q70.2" -MONDO:0014720 "ICD10:H47.2" MONDO:0014720 "DOID:0111340" MONDO:0014720 "OMIM:125250" MONDO:0014720 "UMLS:C1852267" @@ -88613,6 +86422,7 @@ MONDO:0014720 "SCTID:715374003" MONDO:0014720 "Orphanet:1215" MONDO:0014720 "UMLS:C4275164" MONDO:0014720 "MESH:C535351" +MONDO:0014720 "ICD10CM:H47.2" MONDO:0014720 "GARD:0005243" MONDO:0014720 "OMIM:616648" MONDO:0014720 "OMIM:165199" @@ -88623,16 +86433,16 @@ MONDO:0001617 "NCIT:C85198" MONDO:0001617 "DOID:13027" MONDO:0001617 "MESH:D020236" MONDO:0001617 "ICD9:437.7" -MONDO:0001617 "ICD10:G45.4" +MONDO:0001617 "ICD10CM:G45.4" MONDO:0019212 "OMIM:607728" MONDO:0019212 "ICD9:692.75" MONDO:0019212 "OMIM:614714" MONDO:0019212 "SCTID:41495000" MONDO:0019212 "OMIM:616063" MONDO:0019212 "OMIM:612293" -MONDO:0019212 "ICD10:Q82.8" MONDO:0019212 "OMIM:612353" MONDO:0019212 "Orphanet:79152" +MONDO:0019212 "ICD10CM:Q82.8" MONDO:0019212 "OMIM:616631" MONDO:0019212 "GARD:0010983" MONDO:0019212 "OMIM:175900" @@ -88642,12 +86452,11 @@ MONDO:0004208 "NCIT:C6745" CL:0000355 "FMA:86767" MONDO:0016703 "EFO:0002500" MONDO:0016703 "UMLS:C0431108" -MONDO:0016703 "ICD10:C71.9" MONDO:0016703 "Orphanet:251663" MONDO:0016703 "GARD:0010637" MONDO:0016703 "ONCOTREE:AOAST" MONDO:0016703 "NCIT:C6959" -MONDO:0020366 "ICD10:Q15.0" +MONDO:0016703 "ICD10CM:C71.9" MONDO:0020366 "Orphanet:98976" MONDO:0020366 "GARD:0002485" MONDO:0020366 "OMIM:617272" @@ -88666,11 +86475,10 @@ MONDO:0012762 "UMLS:C2677794" MONDO:0012762 "DOID:0060676" MONDO:0012762 "NCIT:C148368" MONDO:0012762 "Orphanet:3286" -MONDO:0012762 "ICD10:I47.2" MONDO:0019415 "GARD:0002295" -MONDO:0019415 "ICD10:P61.0" MONDO:0019415 "Orphanet:853" MONDO:0019415 "SCTID:240305000" +MONDO:0019415 "ICD10CM:P61.0" HP:0003124 "SNOMEDCT_US:166830008" HP:0003124 "SNOMEDCT_US:13644009" HP:0003124 "MSH:D006937" @@ -88679,7 +86487,7 @@ HP:0003124 "UMLS:C0020443" MONDO:0030331 "OMIM:619435" MONDO:0018218 "UMLS:CN204742" MONDO:0018218 "Orphanet:363969" -MONDO:0018218 "ICD10:G31.8" +MONDO:0018218 "ICD10CM:G31.8" MONDO:0021093 "UMLS:C0432235" MONDO:0021093 "Orphanet:1515" MONDO:0021093 "OMIM:218330" @@ -88701,7 +86509,7 @@ MONDO:0011939 "SCTID:703523004" MONDO:0011939 "MESH:C564307" MONDO:0011939 "OMIM:271550" MONDO:0011939 "Orphanet:1855" -MONDO:0011939 "ICD10:Q77.7" +MONDO:0011939 "ICD10CM:Q77.7" MONDO:0011939 "GARD:0004978" MONDO:0011939 "ICD9:759.89" MONDO:0011939 "EFO:0002326" @@ -88712,21 +86520,22 @@ MONDO:0019383 "ICD9:136.9" MONDO:0019383 "DOID:639" MONDO:0019383 "SCTID:83942000" MONDO:0019383 "MESH:D004673" +MONDO:0019383 "ICD10CM:G04.0" MONDO:0019383 "NCIT:C34578" MONDO:0019383 "Orphanet:83597" MONDO:0019383 "UMLS:C0014059" MONDO:0019383 "EFO:0007130" MONDO:0019383 "GARD:0008639" -MONDO:0019383 "ICD10:G04.0" MONDO:0019719 "MESH:C566906" MONDO:0019719 "DOID:0080205" +MONDO:0019719 "ICD10CM:Q60-Q64" MONDO:0019719 "OMIMPS:610805" MONDO:0019719 "UMLS:C1968949" MONDO:0019719 "Orphanet:93545" MONDO:0013691 "UMLS:C3280489" -MONDO:0013691 "ICD10:Q87.8" MONDO:0013691 "OMIM:614326" MONDO:0013691 "Orphanet:391646" +MONDO:0013691 "ICD10CM:Q87.8" MONDO:0013691 "Orphanet:1305" MONDO:0005697 "EFO:0007200" MONDO:0005697 "ICD9:130.0" @@ -88749,16 +86558,16 @@ CL:1000616 "KUPO:0001025" MONDO:0018858 "UMLS:CN205176" MONDO:0018858 "Orphanet:505" MONDO:0018858 "SCTID:718215008" -MONDO:0018858 "ICD10:L66.1" +MONDO:0018858 "ICD10CM:L66.1" MONDO:0018858 "GARD:0003195" MONDO:0018858 "UMLS:C0023645" MONDO:0018060 "OMIM:202400" -MONDO:0018060 "ICD10:D68.2" +MONDO:0018060 "ICD10CM:D68.2" MONDO:0018060 "OMIM:616004" MONDO:0018060 "Orphanet:335" MONDO:0018060 "GARD:0002320" +MONDO:0001114 "ICD10CM:I40.0" MONDO:0001114 "SCTID:64043005" -MONDO:0001114 "ICD10:I40.0" MONDO:0001114 "DOID:10779" MONDO:0001114 "NCIT:C128380" MONDO:0001114 "UMLS:C0155690" @@ -88783,14 +86592,14 @@ MONDO:0003450 "SCTID:253021007" MONDO:0003450 "ICDO:8408/0" MONDO:0003450 "GARD:0010463" MONDO:0010026 "UMLS:C0878684" +MONDO:0010026 "ICD10CM:Q87.1" MONDO:0010026 "DOID:0111454" MONDO:0010026 "MESH:C537327" MONDO:0010026 "GARD:0007633" -MONDO:0010026 "ICD10:Q87.1" MONDO:0010026 "Orphanet:3163" MONDO:0010026 "OMIM:269880" MONDO:0016790 "UMLS:CN227000" -MONDO:0016790 "ICD10:E88.8" +MONDO:0016790 "ICD10CM:E88.8" MONDO:0016790 "Orphanet:254749" HP:0001787 "UMLS:C0549629" HP:0001787 "SNOMEDCT_US:274127000" @@ -88803,7 +86612,7 @@ MONDO:0012226 "DOID:0111306" FOODON:03400139 "http://www.langual.org/langual_thesaurus.asp?termid=A0139" CL:1000803 "KUPO:0001093" MONDO:0009265 "DOID:0110957" -MONDO:0009265 "ICD10:E75.2" +MONDO:0009265 "ICD10CM:E75.2" MONDO:0009265 "Orphanet:77259" MONDO:0009265 "OMIM:230800" MONDO:0009265 "Orphanet:355" @@ -88811,7 +86620,7 @@ MONDO:0009265 "GARD:0002441" MONDO:0015861 "UMLS:CN200464" MONDO:0015861 "Orphanet:180220" MONDO:0010362 "MESH:C564485" -MONDO:0010362 "ICD10:E74.0" +MONDO:0010362 "ICD10CM:E74.0" MONDO:0010362 "DOID:0111040" MONDO:0010362 "OMIM:300559" MONDO:0010362 "GARD:0003858" @@ -88826,27 +86635,22 @@ MONDO:0002555 "UMLS:C0349582" MONDO:0002555 "DOID:3202" MONDO:0005502 "EFO:0005547" MONDO:0005502 "SCTID:38362002" -MONDO:0005502 "ICD10:A97.1" MONDO:0005502 "OMIM:614371" -MONDO:0005502 "ICD10:A97.9" MONDO:0005502 "MESH:D003715" MONDO:0005502 "UMLS:C0011311" MONDO:0005502 "NCIT:C34528" MONDO:0005502 "GARD:0006254" -MONDO:0005502 "ICD10:A97.0" MONDO:0005502 "MedDRA:10012310" MONDO:0005502 "DOID:12205" -MONDO:0005502 "ICD10:A97.2" MONDO:0005502 "UMLS:C0376300" -MONDO:0005502 "ICD10:A90" MONDO:0005502 "Orphanet:99828" MONDO:0005502 "ICD9:061" MONDO:0022553 "GARD:0000841" MONDO:0007702 "UMLS:C1841657" MONDO:0007702 "SCTID:721013001" +MONDO:0007702 "ICD10CM:Q87.2" MONDO:0007702 "OMIM:140450" MONDO:0007702 "Orphanet:1342" -MONDO:0007702 "ICD10:Q87.2" MONDO:0007702 "MESH:C535853" MONDO:0007702 "GARD:0002614" MONDO:0015928 "UMLS:CN200522" @@ -88855,14 +86659,14 @@ MONDO:0012541 "Orphanet:90024" MONDO:0012541 "SCTID:702360007" MONDO:0012541 "OMIM:610706" MONDO:0012541 "GARD:0010707" -MONDO:0012541 "ICD10:Q16.5" MONDO:0012541 "ICD9:759.89" +MONDO:0012541 "ICD10CM:Q16.5" MONDO:0012541 "UMLS:C1853144" MONDO:0012541 "MESH:C565195" -NCBITaxon:6315 "GC_ID:1" MONDO:0003957 "NCIT:C8292" MONDO:0003957 "UMLS:C0281332" MONDO:0003957 "DOID:6648" +NCBITaxon:6315 "GC_ID:1" MONDO:0060714 "OMIM:617993" MONDO:0007056 "MESH:D030981" MONDO:0007056 "OMIM:102400" @@ -88880,7 +86684,7 @@ MONDO:0014916 "UMLS:C4310717" MONDO:0014095 "OMIM:615235" MONDO:0014095 "UMLS:C3808935" MONDO:0014095 "DOID:0110438" -MONDO:0014095 "ICD10:I42.0" +MONDO:0014095 "ICD10CM:I42.0" MONDO:0013982 "DOID:0111653" MONDO:0013982 "OMIM:614940" MONDO:0013982 "UMLS:C3541517" @@ -88891,22 +86695,21 @@ MONDO:0011906 "DOID:0111071" MONDO:0011906 "MESH:C535442" MONDO:0011906 "Orphanet:79301" MONDO:0011906 "GARD:0009813" +MONDO:0011906 "ICD10CM:K76.8" MONDO:0011906 "OMIM:607765" -MONDO:0011906 "ICD10:K76.8" MONDO:0019689 "UMLS:CN227675" MONDO:0019689 "Orphanet:93424" MONDO:0013123 "MESH:C567764" MONDO:0013123 "DOID:0110111" MONDO:0013123 "Orphanet:1478" -MONDO:0013123 "ICD10:Q21.1" MONDO:0013123 "OMIM:613087" MONDO:0013123 "UMLS:C2751315" MONDO:0014681 "OMIM:616534" MONDO:0014681 "Orphanet:319487" MONDO:0014681 "UMLS:C4225293" MONDO:0016039 "ICD9:238.8" +MONDO:0016039 "ICD10CM:M72.8" MONDO:0016039 "Orphanet:199267" -MONDO:0016039 "ICD10:M72.8" MONDO:0016039 "GARD:0008487" MONDO:0016039 "NCIT:C3456" MONDO:0016039 "HP:0025197" @@ -88919,6 +86722,7 @@ MONDO:0007371 "GARD:0009507" MONDO:0007371 "UMLS:C1852558" MONDO:0004985 "UMLS:C0005586" MONDO:0004985 "ICD9:296.40" +MONDO:0004985 "ICD10CM:F31" MONDO:0004985 "NCIT:C34424" MONDO:0004985 "DOID:3312" MONDO:0004985 "EFO:0000289" @@ -88927,10 +86731,8 @@ MONDO:0004985 "NIFSTD:birnlex_12754" MONDO:0004985 "MESH:D001714" MONDO:0004985 "NCIT:C34805" MONDO:0004985 "NCIT:C34423" -MONDO:0004985 "ICD10:F31" MONDO:0004985 "SCTID:191627008" MONDO:0004985 "OMIM:612371" -MONDO:0004985 "ICD10:F31.9" MONDO:0004985 "OMIM:612357" MONDO:0004985 "ICD9:296.80" MONDO:0004985 "ICD9:296.89" @@ -88942,7 +86744,7 @@ MONDO:0006559 "MESH:D017497" MONDO:0006559 "OMIM:142690" MONDO:0006559 "EFO:1000710" MONDO:0006559 "SCTID:59393003" -MONDO:0006559 "ICD10:L73.2" +MONDO:0006559 "ICD10CM:L73.2" MONDO:0006559 "Orphanet:387" MONDO:0006559 "DOID:2280" MONDO:0006559 "OMIM:613737" @@ -88965,7 +86767,6 @@ MONDO:0001084 "DOID:10627" MONDO:0001084 "UMLS:C0155291" MONDO:0001084 "SCTID:21098003" MONDO:0001084 "ICD9:377.11" -MONDO:0001084 "ICD10:H47.21" MONDO:0016508 "UMLS:CN226947" MONDO:0016508 "Orphanet:231641" MONDO:0015792 "NCIT:C113171" @@ -88981,7 +86782,6 @@ MONDO:0013552 "Orphanet:280763" MONDO:0013552 "UMLS:C3279743" MONDO:0001271 "HP:0001132" MONDO:0001271 "ICD9:379.32" -MONDO:0001271 "ICD10:H27.11" MONDO:0001271 "DOID:11364" MONDO:0001271 "NCIT:C34772" MONDO:0001271 "SCTID:65814009" @@ -88996,21 +86796,21 @@ MONDO:0009935 "MESH:C564862" MONDO:0009935 "UMLS:C1849552" MONDO:0009935 "OMIM:265400" MONDO:0009935 "Orphanet:422" -MONDO:0016866 "ICD10:Q93.5" +MONDO:0016866 "ICD10CM:Q93.5" MONDO:0016866 "Orphanet:261766" HP:0011793 "UMLS:C4023185" -MONDO:0017949 "ICD10:I68.0*" +MONDO:0017949 "ICD10EXP:E85.4+" +MONDO:0017949 "ICD10EXP:I68.0*" MONDO:0017949 "Orphanet:324723" MONDO:0017949 "OMIM:605714" -MONDO:0017949 "ICD10:E85.4+" MONDO:0019238 "DOID:0050832" MONDO:0019238 "MedDRA:10070969" MONDO:0019238 "Orphanet:79193" +MONDO:0017151 "ICD10CM:I27.2" MONDO:0017151 "EFO:0009196" MONDO:0017151 "UMLS:CN202578" MONDO:0017151 "SCTID:697903007" MONDO:0017151 "UMLS:C3697982" -MONDO:0017151 "ICD10:I27.2" MONDO:0017151 "Orphanet:275798" MONDO:0017151 "ICD9:416.8" MONDO:0021765 "NCIT:C78581" @@ -89025,10 +86825,10 @@ MONDO:0024988 "DOID:0080368" MONDO:0010212 "DOID:0110845" MONDO:0010212 "OMIM:278730" MONDO:0010212 "Orphanet:220295" -MONDO:0010212 "ICD10:Q82.1" MONDO:0010212 "MESH:C562591" -MONDO:0010212 "Orphanet:910" +MONDO:0010212 "ICD10CM:Q82.1" MONDO:0010212 "SCTID:68637004" +MONDO:0010212 "Orphanet:910" MONDO:0010212 "NCIT:C3967" MONDO:0010212 "Orphanet:276258" MONDO:0006108 "SCTID:424091006" @@ -89044,12 +86844,12 @@ MONDO:0004460 "NCIT:C4160" MONDO:0004460 "UMLS:C0334328" MONDO:0004460 "DOID:8102" CL:1000482 "FMA:83390" -MONDO:0008488 "ICD10:Q87.8" MONDO:0008488 "GARD:0002727" MONDO:0008488 "OMIM:184705" MONDO:0008488 "Orphanet:3186" MONDO:0008488 "UMLS:C1866649" MONDO:0008488 "SCTID:716233007" +MONDO:0008488 "ICD10CM:Q87.8" MONDO:0008488 "MESH:C566655" HP:0001952 "UMLS:C0235401" HP:0000080 "UMLS:C4021820" @@ -89058,15 +86858,14 @@ MONDO:0030971 "OMIM:619220" MONDO:0018553 "UMLS:CN237554" MONDO:0018553 "NCIT:C123254" MONDO:0018553 "Orphanet:431347" +MONDO:0018553 "ICD10CM:Q64.4" MONDO:0018553 "SCTID:253899000" -MONDO:0018553 "ICD10:Q64.4" MONDO:0016937 "SCTID:726358004" MONDO:0016937 "Orphanet:262687" MONDO:0001388 "SCTID:363451005" MONDO:0001388 "UMLS:C0153599" MONDO:0001388 "DOID:11839" MONDO:0001388 "ICD9:187.2" -MONDO:0001388 "ICD10:C60.1" MONDO:0002334 "SCTID:129154003" MONDO:0002334 "NCIT:C35813" MONDO:0002334 "DOID:2531" @@ -89078,7 +86877,6 @@ MONDO:0001778 "UMLS:C0349502" MONDO:0001778 "DOID:13691" MONDO:0001778 "NCIT:C4632" MONDO:0001778 "SCTID:276729007" -MONDO:0007150 "ICD10:H18.41" MONDO:0007150 "UMLS:C0003742" MONDO:0007150 "SCTID:231924000" MONDO:0007150 "OMIM:107800" @@ -89102,7 +86900,7 @@ NCBITaxon:186804 "GC_ID:11" MONDO:0007549 "Orphanet:231568" MONDO:0007549 "OMIM:131750" MONDO:0007549 "ICD9:757.39" -MONDO:0007549 "ICD10:Q81.2" +MONDO:0007549 "ICD10CM:Q81.2" MONDO:0007549 "SCTID:75875004" MONDO:0007549 "GARD:0002139" MONDO:0007549 "DOID:0080224" @@ -89116,15 +86914,15 @@ NCBITaxon:43733 "GC_ID:1" MONDO:0003959 "UMLS:C1511316" MONDO:0003959 "DOID:6657" MONDO:0003959 "NCIT:C40356" +MONDO:0019585 "ICD10CM:L98.5" MONDO:0019585 "Orphanet:90400" -MONDO:0019585 "ICD10:L98.5" HP:0001482 "SNOMEDCT_US:95325000" HP:0001482 "UMLS:C0151811" HP:0001482 "UMLS:C0746926" HP:0010914 "UMLS:C4023656" -MONDO:0017541 "ICD10:Q69.2" MONDO:0017541 "Orphanet:295183" -MONDO:0015380 "ICD10:Q18.8" +MONDO:0017541 "ICD10CM:Q69.2" +MONDO:0015380 "ICD10CM:Q18.8" MONDO:0015380 "SCTID:763220008" MONDO:0015380 "Orphanet:141051" MONDO:0000376 "ICD9:165.9" @@ -89154,13 +86952,13 @@ MONDO:0018774 "UMLS:CN776912" MONDO:0009655 "OMIM:252900" MONDO:0009655 "GARD:0007071" MONDO:0009655 "GARD:0002649" -MONDO:0009655 "ICD10:E76.2" MONDO:0009655 "UMLS:C0086647" MONDO:0009655 "Orphanet:79269" MONDO:0009655 "Orphanet:581" MONDO:0009655 "DOID:0111395" MONDO:0009655 "SCTID:41572006" MONDO:0009655 "NCIT:C84897" +MONDO:0009655 "ICD10CM:E76.2" MONDO:0011509 "OMIM:605028" MONDO:0017669 "Orphanet:307711" MONDO:0017669 "UMLS:CN203554" @@ -89168,6 +86966,7 @@ NCBITaxon:721805 "GC_ID:1" MONDO:0015224 "Orphanet:108999" MONDO:0015224 "UMLS:CN226640" MONDO:0021095 "MESH:D020734" +MONDO:0021095 "ICD10CM:G20-G26" MONDO:0010620 "UMLS:C1843972" MONDO:0010620 "Orphanet:94088" MONDO:0010620 "OMIM:307830" @@ -89180,8 +86979,8 @@ MONDO:0017424 "Orphanet:294937" MONDO:0018982 "Orphanet:646" MONDO:0018982 "SCTID:66751000" MONDO:0018982 "MESH:D052556" -MONDO:0018982 "ICD10:E75.2" MONDO:0018982 "OMIM:257220" +MONDO:0018982 "ICD10CM:E75.2" MONDO:0018982 "OMIM:607625" MONDO:0012385 "OMIM:609989" MONDO:0012385 "MESH:C537354" @@ -89193,7 +86992,6 @@ MONDO:0011131 "GARD:0001553" MONDO:0011131 "Orphanet:3354" MONDO:0002265 "MESH:D019956" MONDO:0002265 "ICD9:307.3" -MONDO:0002265 "ICD10:F98.4" MONDO:0002265 "DOID:2303" MONDO:0002265 "SCTID:5507002" MONDO:0024537 "UMLS:CN029849" @@ -89205,8 +87003,8 @@ MONDO:0008896 "UMLS:C1859371" MONDO:0008896 "MESH:C537966" MONDO:0008896 "OMIM:211890" MONDO:0008896 "Orphanet:1318" +MONDO:0008896 "ICD10CM:Q87.8" MONDO:0008896 "SCTID:720599002" -MONDO:0008896 "ICD10:Q87.8" MONDO:0008896 "GARD:0001061" MONDO:0009538 "UMLS:C1855473" MONDO:0009538 "OMIM:247630" @@ -89235,14 +87033,14 @@ NCBITaxon:121224 "PMID:23049889" MONDO:0006513 "DOID:0060076" MONDO:0006513 "EFO:1000650" HP:0009116 "UMLS:C4024591" +MONDO:0018156 "ICD10CM:Q93.5" MONDO:0018156 "UMLS:CN204590" -MONDO:0018156 "ICD10:Q93.5" MONDO:0018156 "Orphanet:356947" MONDO:0009478 "UMLS:C1968689" MONDO:0009478 "OMIM:243700" MONDO:0009478 "NCIT:C126343" +MONDO:0009478 "ICD10CM:D81.1" MONDO:0009478 "GARD:0002816" -MONDO:0009478 "ICD10:D81.1" MONDO:0009478 "Orphanet:217390" MONDO:0011616 "OMIM:605934" MONDO:0011616 "DOID:0110874" @@ -89255,8 +87053,6 @@ MONDO:0003452 "UMLS:C0009197" MONDO:0003452 "MESH:D015834" MONDO:0003452 "DOID:5463" MONDO:0006969 "EFO:1001179" -MONDO:0006969 "ICD10:K11.2" -MONDO:0006969 "ICD10:K11.20" MONDO:0006969 "ICD9:527.2" MONDO:0006969 "MedDRA:10040627" MONDO:0006969 "DOID:10303" @@ -89265,17 +87061,8 @@ MONDO:0006969 "MESH:D012793" MONDO:0006969 "SCTID:42982001" MONDO:0006969 "GARD:0007638" MONDO:0006969 "NCIT:C115165" -NCBITaxon:6209 "PMID:18180956" -NCBITaxon:6209 "PMID:16352465" -NCBITaxon:6209 "PMID:12377596" -NCBITaxon:6209 "PMID:18338180" -NCBITaxon:6209 "PMID:12964823" -NCBITaxon:6209 "PMID:17156584" -NCBITaxon:6209 "GC_ID:1" -MONDO:0032908 "OMIM:618774" MONDO:0007915 "OMIM:612378" MONDO:0007915 "OMIM:612253" -MONDO:0007915 "ICD10:M32.1" MONDO:0007915 "OMIM:610927" MONDO:0007915 "OMIM:152700" MONDO:0007915 "OMIM:614420" @@ -89290,20 +87077,24 @@ MONDO:0007915 "KEGG:05322" MONDO:0007915 "Orphanet:536" MONDO:0007915 "OMIM:601744" MONDO:0007915 "OMIM:612254" -MONDO:0007915 "ICD10:M32.8" -MONDO:0007915 "ICD10:M32" MONDO:0007915 "OMIM:300809" MONDO:0007915 "OMIM:612251" MONDO:0007915 "OMIM:605218" MONDO:0007915 "OMIM:610066" MONDO:0007915 "OMIM:609939" MONDO:0007915 "MESH:D008180" -MONDO:0007915 "ICD10:M32.0" -MONDO:0007915 "ICD10:M32.9" MONDO:0007915 "HP:0002725" MONDO:0007915 "SCTID:55464009" MONDO:0007915 "NCIT:C3201" MONDO:0007915 "EFO:0002690" +NCBITaxon:6209 "PMID:18180956" +NCBITaxon:6209 "PMID:16352465" +NCBITaxon:6209 "PMID:12377596" +NCBITaxon:6209 "PMID:18338180" +NCBITaxon:6209 "PMID:12964823" +NCBITaxon:6209 "PMID:17156584" +NCBITaxon:6209 "GC_ID:1" +MONDO:0032908 "OMIM:618774" MONDO:0005641 "DOID:2934" MONDO:0005641 "MESH:D000453" MONDO:0005641 "EFO:0007139" @@ -89318,11 +87109,11 @@ NCBITaxon:451864 "PMID:17572334" NCBITaxon:451864 "GC_ID:1" NCBITaxon:451864 "PMID:17010206" MONDO:0020524 "OMIM:600166" -MONDO:0020524 "ICD10:E21.0" +MONDO:0020524 "ICD10CM:E21.0" MONDO:0020524 "Orphanet:99878" -MONDO:0019017 "ICD10:E13" MONDO:0019017 "UMLS:CN205478" MONDO:0019017 "Orphanet:66518" +MONDO:0019017 "ICD10CM:E13" MONDO:0016374 "UMLS:C0010269" MONDO:0016374 "Orphanet:221109" MONDO:0016374 "SCTID:23096007" @@ -89334,7 +87125,6 @@ MONDO:0003068 "UMLS:C0919638" MONDO:0003068 "NCIT:C27332" MONDO:0003068 "DOID:4638" MONDO:0001670 "DOID:13240" -MONDO:0001670 "ICD10:K03.3" MONDO:0001670 "SCTID:70931000" MONDO:0001670 "MESH:D014091" MONDO:0001670 "ICD9:521.4" @@ -89347,12 +87137,12 @@ MONDO:0007000 "MESH:D014211" MONDO:0007000 "GARD:0007798" MONDO:0007000 "NCIT:C85197" MONDO:0007000 "EFO:1001217" -MONDO:0020407 "ICD10:Q21.2" MONDO:0020407 "UMLS:CN207279" +MONDO:0020407 "ICD10CM:Q21.2" MONDO:0020407 "Orphanet:99067" MONDO:0001609 "MESH:D000380" MONDO:0001609 "DOID:12987" -MONDO:0001609 "ICD10:D70" +MONDO:0001609 "ICD10CM:D70" MONDO:0001609 "SCTID:417672002" MONDO:0001609 "NCIT:C2863" MONDO:0001609 "ICD9:288.8" @@ -89369,7 +87159,7 @@ MONDO:0008349 "MESH:C566733" MONDO:0008349 "OMIM:178650" MONDO:0008349 "UMLS:C1867407" MONDO:0018414 "Orphanet:400025" -MONDO:0018414 "ICD10:N97.2" +MONDO:0018414 "ICD10CM:N97.2" MONDO:0013375 "DOID:0080591" MONDO:0013375 "Orphanet:2345" MONDO:0013375 "OMIM:613702" @@ -89381,9 +87171,8 @@ MONDO:0001943 "DOID:14324" MONDO:0001943 "ICD9:084.2" MONDO:0001943 "NCIT:C34799" MONDO:0001943 "SCTID:27618009" -MONDO:0001943 "ICD10:B52.9" +MONDO:0001943 "ICD10CM:B52" MONDO:0001943 "UMLS:C0024536" -MONDO:0001943 "ICD10:B52" MONDO:0015319 "UMLS:CN199290" MONDO:0015319 "Orphanet:138044" MONDO:0032655 "OMIM:618283" @@ -89396,15 +87185,15 @@ MONDO:0014777 "OMIM:616801" NCBITaxon:41283 "GC_ID:1" MONDO:0010035 "ICD9:759.89" MONDO:0010035 "DOID:14692" -MONDO:0010035 "ICD10:Q87.1" +MONDO:0010035 "ICD10CM:E78.72" MONDO:0010035 "GARD:0005683" MONDO:0010035 "Orphanet:818" MONDO:0010035 "SCTID:43929004" MONDO:0010035 "MESH:D019082" MONDO:0010035 "NCIT:C85071" -MONDO:0010035 "ICD10:E78.72" MONDO:0010035 "OMIM:270400" MONDO:0010035 "UMLS:C0175694" +MONDO:0010035 "ICD10CM:Q87.1" MONDO:0000541 "DOID:0050926" MONDO:0000541 "HP:0030411" MONDO:0000541 "UMLS:C4072935" @@ -89419,8 +87208,8 @@ MONDO:0004569 "DOID:8443" MONDO:0004569 "SCTID:3548001" MONDO:0004569 "ICD9:353.0" MONDO:0008746 "Orphanet:79432" +MONDO:0008746 "ICD10CM:E70.3" MONDO:0008746 "GARD:0004038" -MONDO:0008746 "ICD10:E70.3" MONDO:0008746 "OMIM:203200" MONDO:0008746 "MESH:C537730" MONDO:0008746 "UMLS:C0268495" @@ -89431,8 +87220,8 @@ MONDO:0009820 "Orphanet:2788" MONDO:0009820 "MedDRA:10052452" MONDO:0009820 "GARD:0004160" MONDO:0009820 "DOID:0060849" -MONDO:0009820 "ICD10:Q87.5" MONDO:0009820 "NCIT:C130998" +MONDO:0009820 "ICD10CM:Q87.5" MONDO:0009820 "UMLS:C0432252" MONDO:0024539 "OMIM:215500" MONDO:0024539 "Orphanet:75377" @@ -89442,10 +87231,10 @@ MONDO:0025513 "SCTID:402397006" MONDO:0025513 "ICD9:708.8" MONDO:0009257 "Orphanet:352" MONDO:0009257 "SCTID:8849004" +MONDO:0009257 "ICD10CM:E74.2" MONDO:0009257 "OMIM:230350" MONDO:0009257 "Orphanet:79238" MONDO:0009257 "DOID:0111458" -MONDO:0009257 "ICD10:E74.2" MONDO:0009257 "GARD:0005392" HP:0002721 "UMLS:C0021051" HP:0002721 "MSH:D007153" @@ -89467,15 +87256,12 @@ MONDO:0013637 "OMIM:614221" MONDO:0013637 "UMLS:C3280202" MONDO:0013637 "Orphanet:186" MONDO:0007885 "NCIT:C34766" -MONDO:0007885 "ICD10:M91.1" MONDO:0007885 "GARD:0006874" MONDO:0007885 "MESH:D007873" -MONDO:0007885 "ICD10:M91.3" MONDO:0007885 "UMLS:C0023234" MONDO:0007885 "EFO:0007341" MONDO:0007885 "DOID:14415" MONDO:0007885 "OMIM:150600" -MONDO:0007885 "ICD10:M91.2" MONDO:0007885 "MedDRA:10034735" MONDO:0007885 "Orphanet:2380" MONDO:0007885 "SCTID:15739006" @@ -89485,20 +87271,19 @@ HP:0000763 "SNOMEDCT_US:95662005" MONDO:0017364 "UMLS:C0085404" MONDO:0017364 "MedDRA:10053869" MONDO:0017364 "MESH:D016878" -MONDO:0017364 "ICD10:D47.7" MONDO:0017364 "Orphanet:2905" MONDO:0017364 "NCIT:C80303" MONDO:0017364 "EFO:1001115" MONDO:0017364 "SCTID:79268002" MONDO:0017364 "GARD:0007411" MONDO:0017364 "DOID:14039" +MONDO:0018006 "ICD10CM:G71.0" MONDO:0018006 "Orphanet:329478" MONDO:0018006 "UMLS:CN204218" -MONDO:0018006 "ICD10:G71.0" MONDO:0044219 "OMIM:110700" MONDO:0020271 "Orphanet:98701" MONDO:0010425 "Orphanet:98955" -MONDO:0010425 "ICD10:H18.5" +MONDO:0010425 "ICD10CM:H18.5" MONDO:0010425 "MESH:C567588" MONDO:0010425 "SCTID:724175002" MONDO:0010425 "UMLS:C2749050" @@ -89508,9 +87293,9 @@ MONDO:0012878 "Orphanet:201" MONDO:0012878 "OMIM:612359" MONDO:0012878 "MESH:C567337" MONDO:0012878 "UMLS:C3552552" -MONDO:0005736 "ICD10:A83.2" MONDO:0005736 "MESH:D020242" MONDO:0005736 "ICD9:062.2" +MONDO:0005736 "ICD10CM:A83.2" MONDO:0005736 "EFO:0007242" MONDO:0005736 "DOID:10841" MONDO:0005736 "GARD:0010821" @@ -89519,16 +87304,16 @@ MONDO:0005736 "MedDRA:10014587" MONDO:0005736 "UMLS:C0153065" HP:0010979 "UMLS:C4023615" MONDO:0017247 "Orphanet:280821" -MONDO:0017247 "ICD10:Q33.2" +MONDO:0017247 "ICD10CM:Q33.2" MONDO:0008128 "UMLS:C1833839" MONDO:0008128 "OMIM:165000" MONDO:0008128 "MESH:C563500" MONDO:0014369 "Orphanet:420584" MONDO:0014369 "GARD:0013349" +MONDO:0014369 "ICD10CM:Q87.8" MONDO:0014369 "UMLS:C4014479" MONDO:0014369 "DOID:0080328" MONDO:0014369 "OMIM:615849" -MONDO:0014369 "ICD10:Q87.8" MONDO:0010393 "OMIM:300659" MONDO:0010393 "MESH:C567066" MONDO:0010393 "UMLS:C1970841" @@ -89540,10 +87325,6 @@ MONDO:0009990 "Orphanet:3088" MONDO:0009990 "DOID:0070026" MONDO:0009990 "NCIT:C152064" MONDO:0009990 "UMLS:C1327916" -MONDO:0044354 "ONCOTREE:RDD" -MONDO:0044354 "MedDRA:10063397" -MONDO:0044354 "Orphanet:158014" -MONDO:0044354 "ICD10:D76.3" MONDO:0014252 "DOID:0111062" MONDO:0014252 "SCTID:60193003" MONDO:0014252 "UMLS:CN182502" @@ -89553,11 +87334,9 @@ MONDO:0014252 "GARD:0002876" MONDO:0013482 "OMIM:613885" MONDO:0013482 "Orphanet:564" MONDO:0013482 "DOID:0070122" -MONDO:0013482 "ICD10:Q61.9" MONDO:0013482 "UMLS:C3836857" MONDO:0004977 "ICD9:202.70" MONDO:0004977 "ICDO:9767/1" -MONDO:0004977 "MEDDRA:10002449" MONDO:0004977 "MedDRA:10002449" MONDO:0004977 "Orphanet:86886" MONDO:0004977 "UMLS:C0020981" @@ -89567,13 +87346,16 @@ MONDO:0004977 "ICDO:9705/3" MONDO:0004977 "MESH:D007119" MONDO:0004977 "GARD:0011973" MONDO:0004977 "ONCOTREE:AITL" -MONDO:0004977 "ICD10:C86.5" +MONDO:0004977 "ICD10CM:C86.5" MONDO:0004977 "SCTID:413537009" MONDO:0004977 "NCIT:C7528" MONDO:0004977 "GARD:11973" MONDO:0003660 "UMLS:C1332206" MONDO:0003660 "NCIT:C7587" MONDO:0003660 "DOID:5825" +MONDO:0044354 "ONCOTREE:RDD" +MONDO:0044354 "MedDRA:10063397" +MONDO:0044354 "Orphanet:158014" MONDO:0011866 "DOID:0060265" MONDO:0011866 "OMIM:607596" MONDO:0011866 "UMLS:C1843504" @@ -89586,17 +87368,16 @@ MONDO:0002933 "DOID:4254" MONDO:0002933 "SCTID:49347007" MONDO:0002933 "MESH:D010026" MONDO:0002933 "NCIT:C41236" -MONDO:0002933 "ICD10:Q78.2" MONDO:0002933 "UMLS:C0029464" MONDO:0019353 "UMLS:C1855465" MONDO:0019353 "DOID:0050817" -MONDO:0019353 "ICD10:H35.5" MONDO:0019353 "MedDRA:10062766" MONDO:0019353 "UMLS:C0271093" MONDO:0019353 "OMIM:603786" MONDO:0019353 "GARD:0000181" MONDO:0019353 "NCIT:C85078" MONDO:0019353 "SCTID:47673003" +MONDO:0019353 "ICD10CM:H35.5" MONDO:0019353 "OMIM:600110" MONDO:0019353 "Orphanet:827" MONDO:0019353 "OMIM:248200" @@ -89616,7 +87397,7 @@ MONDO:0005559 "SCTID:362975008" MONDO:0005559 "DOID:1289" MONDO:0005559 "EFO:0005772" MONDO:0005559 "MESH:D019636" -MONDO:0005559 "ICD10:G31.9" +MONDO:0005559 "ICD10CM:G30-G32" MONDO:0005559 "NCIT:C4802" MONDO:0005559 "SCTID:80690008" MONDO:0005559 "NCIT:C27090" @@ -89639,7 +87420,6 @@ MONDO:0001945 "DOID:14332" MONDO:0001945 "SCTID:19972008" MONDO:0001945 "Orphanet:97349" MONDO:0001945 "MESH:D010301" -MONDO:0001945 "ICD10:G21.3" MONDO:0001945 "NCIT:C34898" MONDO:0001945 "EFO:1001402" MONDO:0025483 "MESH:D015674" @@ -89650,7 +87430,7 @@ MONDO:0008935 "Orphanet:1173" MONDO:0008935 "UMLS:C1859305" MONDO:0008935 "OMIM:212840" MONDO:0008935 "MESH:C565870" -MONDO:0008935 "ICD10:G11.8" +MONDO:0008935 "ICD10CM:G11.8" MONDO:0012598 "GARD:0002475" MONDO:0012598 "Orphanet:2024" MONDO:0012598 "MESH:C567028" @@ -89661,10 +87441,10 @@ MONDO:0001722 "DOID:13473" MONDO:0001722 "SCTID:43300008" MONDO:0001722 "UMLS:C0155156" MONDO:0001722 "ICD9:372.43" +MONDO:0014627 "ICD10CM:G24.1" MONDO:0014627 "Orphanet:464440" MONDO:0014627 "UMLS:C4225336" MONDO:0014627 "OMIM:616411" -MONDO:0014627 "ICD10:G24.1" MONDO:0014627 "DOID:0090050" MONDO:0007664 "MESH:C564234" MONDO:0007664 "UMLS:C1842028" @@ -89674,8 +87454,8 @@ MONDO:0007664 "GARD:0009485" MONDO:0032657 "OMIM:618285" MONDO:0019728 "UMLS:C1333947" MONDO:0019728 "Orphanet:93556" -MONDO:0019728 "ICD10:D89.8" MONDO:0019728 "NCIT:C7339" +MONDO:0019728 "ICD10CM:D89.8" MONDO:0019728 "UMLS:CN206635" MONDO:0011196 "GARD:0010503" MONDO:0011196 "OMIM:602099" @@ -89685,23 +87465,22 @@ MONDO:0011196 "MESH:C566576" MONDO:0011196 "UMLS:C1865864" MONDO:0001076 "NCIT:C34646" MONDO:0001076 "ICD9:271.3" -MONDO:0001076 "ICD10:R73.09" MONDO:0001076 "UMLS:C0271650" MONDO:0001076 "MESH:D018149" MONDO:0001076 "DOID:10603" MONDO:0001076 "SCTID:267426009" MONDO:0008818 "DOID:0050645" +MONDO:0008818 "ICD10CM:Q87.82" MONDO:0008818 "GARD:0000774" MONDO:0008818 "SCTID:458432002" MONDO:0008818 "Orphanet:3342" -MONDO:0008818 "ICD10:Q87.82" +MONDO:0008818 "ICD10CM:I77.1" MONDO:0008818 "UMLS:C1859726" -MONDO:0008818 "ICD10:I77.1" MONDO:0008818 "OMIM:208050" MONDO:0008818 "MESH:C565942" MONDO:0019611 "UMLS:C0346303" -MONDO:0019611 "ICD10:D35.2" MONDO:0019611 "Orphanet:91347" +MONDO:0019611 "ICD10CM:D35.2" MONDO:0019611 "NCIT:C8011" MONDO:0010204 "Orphanet:75233" MONDO:0010204 "GARD:0012097" @@ -89711,10 +87490,10 @@ MONDO:0010204 "Orphanet:275761" MONDO:0010204 "OMIM:278000" MONDO:0010204 "SCTID:715923003" MONDO:0010204 "UMLS:C0043208" -MONDO:0010204 "ICD10:E75.5" +MONDO:0010204 "ICD10CM:E75.5" MONDO:0010204 "MESH:C531854" -MONDO:0019176 "ICD10:Q87.1" MONDO:0019176 "OMIM:190350" +MONDO:0019176 "ICD10CM:Q87.1" MONDO:0019176 "OMIM:190351" MONDO:0019176 "UMLS:CN205736" MONDO:0019176 "Orphanet:77258" @@ -89732,52 +87511,51 @@ MONDO:0004829 "NCIT:C3153" MONDO:0011439 "Orphanet:98762" MONDO:0011439 "GARD:0010476" MONDO:0011439 "OMIM:604326" +MONDO:0011439 "ICD10CM:G11.2" MONDO:0011439 "NCIT:C154316" MONDO:0011439 "DOID:0050962" MONDO:0011439 "MESH:C565790" -MONDO:0011439 "ICD10:G11.2" MONDO:0011439 "UMLS:C1858501" MONDO:0011439 "SCTID:719208005" MONDO:0011439 "UMLS:C4304885" MONDO:0016539 "Orphanet:238523" -MONDO:0016539 "ICD10:E72.0" +MONDO:0016539 "ICD10CM:E72.0" MONDO:0016539 "UMLS:CN201620" MONDO:0016539 "OMIM:606407" MONDO:0006046 "NCIT:C7978" MONDO:0006046 "UMLS:C0279663" MONDO:0006046 "EFO:1000043" MONDO:0006046 "DOID:5746" +NCBITaxon:816 "GC_ID:11" MONDO:0017613 "Orphanet:3050" MONDO:0017613 "GARD:0003441" MONDO:0013639 "Orphanet:2073" MONDO:0013639 "OMIM:614223" -NCBITaxon:816 "GC_ID:11" HP:0000613 "MSH:D020795" HP:0000613 "UMLS:C4020887" HP:0000613 "UMLS:C0085636" HP:0000613 "SNOMEDCT_US:246622003" HP:0000613 "SNOMEDCT_US:409668002" MONDO:0019915 "Orphanet:96184" -MONDO:0019915 "ICD10:Q99.8" +MONDO:0019915 "ICD10CM:Q99.8" MONDO:0009422 "UMLS:C1855856" MONDO:0009422 "OMIM:241120" MONDO:0009422 "MESH:C565481" MONDO:0013085 "OMIM:613016" MONDO:0020588 "NCIT:C142783" +MONDO:0010699 "Orphanet:99014" +MONDO:0010699 "ICD10CM:G60.0" MONDO:0010699 "UMLS:C1839566" -MONDO:0010699 "DOID:0110210" MONDO:0010699 "SCTID:763460007" +MONDO:0010699 "DOID:0110210" MONDO:0010699 "GARD:0000114" -MONDO:0010699 "ICD10:G60.0" MONDO:0010699 "OMIM:311070" -MONDO:0010699 "Orphanet:99014" MONDO:0020764 "UMLS:C0007122" MONDO:0020764 "MESH:D002284" MONDO:0020764 "EFO:1001278" NCBITaxon:2731341 "GC_ID:1" MONDO:0005893 "ICDO:8150/3" MONDO:0005893 "Orphanet:506098" -MONDO:0005893 "ICD10:C25.4" MONDO:0005893 "EFO:0007416" MONDO:0005893 "NCIT:C3770" MONDO:0005893 "DOID:1798" @@ -89785,11 +87563,11 @@ MONDO:0005893 "ICD9:157.4" MONDO:0005893 "UMLS:C1328479" MONDO:0005893 "MESH:D018273" MONDO:0005893 "SCTID:254612002" +MONDO:0005893 "ICD10CM:C25.4" MONDO:0004088 "UMLS:C1511063" MONDO:0004088 "NCIT:C40189" MONDO:0004088 "DOID:7046" MONDO:0010427 "UMLS:C3275406" -MONDO:0010427 "ICD10:Q87.8" MONDO:0010427 "OMIM:300799" MONDO:0010427 "DOID:0060824" MONDO:0017143 "Orphanet:275742" @@ -89807,27 +87585,24 @@ MONDO:0005034 "ICDO:8331/3" MONDO:0005034 "ICDO:8330/3" MONDO:0005034 "OMIM:616535" MONDO:0005034 "NCIT:C8054" -MONDO:0015831 "ICD10:Q51.4" MONDO:0015831 "Orphanet:180071" MONDO:0007487 "OMIM:127700" -MONDO:0012019 "ICD10:Q77.7" +MONDO:0012019 "ICD10CM:Q77.7" MONDO:0012019 "OMIM:608361" MONDO:0012019 "MESH:C564252" MONDO:0012019 "SCTID:719203001" MONDO:0012019 "Orphanet:93283" MONDO:0024182 "DOID:0070318" -MONDO:0024182 "ICD10CM:E51.11" MONDO:0008410 "OMIM:181440" MONDO:0008410 "Orphanet:3135" MONDO:0008410 "DOID:13300" -MONDO:0008410 "ICD10:M42.0" MONDO:0008410 "NCIT:C34999" +MONDO:0008410 "ICD10CM:M42.0" MONDO:0008410 "UMLS:C0036310" MONDO:0008410 "SCTID:53406005" MONDO:0008410 "GARD:0007610" MONDO:0008410 "ICD9:732.0" MONDO:0008410 "EFO:0008576" -MONDO:0008410 "ICD10:M42.00" MONDO:0002525 "ICD9:272.8" MONDO:0002525 "DOID:3146" MONDO:0002525 "MedDRA:10061227" @@ -89845,27 +87620,25 @@ MONDO:0012073 "SCTID:124667004" MONDO:0001819 "DOID:13866" MONDO:0001819 "ICD9:352.6" MONDO:0001819 "UMLS:C0154733" -MONDO:0001819 "ICD10:G52.7" MONDO:0001819 "SCTID:78152008" MONDO:0001310 "UMLS:C0155115" -MONDO:0001310 "ICD10:H18.31" MONDO:0001310 "SCTID:45382000" MONDO:0001310 "DOID:11552" MONDO:0001310 "ICD9:371.31" MONDO:0007213 "Orphanet:93395" MONDO:0007213 "MESH:C537094" MONDO:0007213 "UMLS:C1862163" -MONDO:0007213 "ICD10:Q73.8" MONDO:0007213 "GARD:0000959" +MONDO:0007213 "ICD10CM:Q73.8" MONDO:0007213 "DOID:0110963" MONDO:0007213 "SCTID:722298001" MONDO:0007213 "OMIM:112440" MONDO:0005901 "UMLS:C0030636" -MONDO:0005901 "ICD10:A28.0" MONDO:0005901 "ICD9:027.2" MONDO:0005901 "DOID:11055" MONDO:0005901 "MESH:D010326" MONDO:0005901 "SCTID:83172007" +MONDO:0005901 "ICD10CM:A28.0" MONDO:0005901 "EFO:0007424" MONDO:0019781 "ICDO:9400/3" MONDO:0019781 "SCTID:147101000119108" @@ -89884,10 +87657,11 @@ MONDO:0009593 "MESH:C535798" MONDO:0009593 "Orphanet:93317" MONDO:0009593 "UMLS:C1855229" MONDO:0009593 "OMIM:250220" -MONDO:0009593 "ICD10:Q77.8" +MONDO:0009593 "ICD10CM:Q77.8" MONDO:0009593 "GARD:0004993" MONDO:0011868 "Orphanet:137776" MONDO:0011868 "UMLS:C1843478" +MONDO:0011868 "ICD10CM:Q68.8" MONDO:0011868 "DOID:0060560" MONDO:0011868 "Orphanet:137783" MONDO:0011868 "GARD:0009177" @@ -89895,7 +87669,6 @@ MONDO:0011868 "UMLS:C4275145" MONDO:0011868 "SCTID:715419004" MONDO:0011868 "MESH:C564369" MONDO:0011868 "OMIM:607598" -MONDO:0011868 "ICD10:Q68.8" MONDO:0008091 "OMIM:162820" MONDO:0006475 "EFO:1000603" MONDO:0006475 "ONCOTREE:URCC" @@ -89910,7 +87683,7 @@ MONDO:0011007 "GARD:0002397" MONDO:0011007 "SCTID:721095007" MONDO:0011007 "Orphanet:2141" MONDO:0011007 "MESH:C563380" -MONDO:0011007 "ICD10:Q87.8" +MONDO:0011007 "ICD10CM:Q87.8" MONDO:0003966 "NCIT:C39935" MONDO:0003966 "DOID:6693" MONDO:0003966 "UMLS:C1515290" @@ -89937,13 +87710,13 @@ NCBITaxon:1763 "PMID:31296783" NCBITaxon:1763 "GC_ID:11" NCBITaxon:1763 "PMID:16014496" NCBITaxon:1763 "PMID:7547304" +MONDO:0015068 "UMLS:CN197361" +MONDO:0015068 "NCIT:C135213" MONDO:0021291 "UMLS:C0345800" MONDO:0021291 "NCIT:C4429" MONDO:0021291 "SCTID:92598002" -MONDO:0015068 "UMLS:CN197361" -MONDO:0015068 "NCIT:C135213" +MONDO:0016014 "ICD10CM:Q86.8" MONDO:0016014 "ICD9:760.79" -MONDO:0016014 "ICD10:Q86.8" MONDO:0016014 "SCTID:254251003" MONDO:0016014 "Orphanet:1918" MONDO:0016014 "GARD:0002308" @@ -89963,52 +87736,52 @@ MONDO:0002695 "MESH:D020225" MONDO:0002695 "UMLS:C0338575" MONDO:0002695 "DOID:3576" MONDO:0002695 "SCTID:192760003" +MONDO:0019800 "ICD10CM:E80.2" MONDO:0019800 "Orphanet:95161" -MONDO:0019800 "ICD10:E80.2" MONDO:0022693 "GARD:0001201" MONDO:0024893 "MESH:C531834" MONDO:0024893 "UMLS:C2930846" MONDO:0004209 "DOID:7398" MONDO:0004209 "UMLS:C0751675" MONDO:0004209 "NCIT:C4970" +MONDO:0018603 "ICD10CM:J84.8" MONDO:0018603 "OMIM:610913" MONDO:0018603 "UMLS:CN237633" MONDO:0018603 "Orphanet:440392" -MONDO:0018603 "ICD10:J84.8" MONDO:0014629 "UMLS:C4225334" MONDO:0014629 "Orphanet:444092" -MONDO:0014629 "ICD10:J84.8" +MONDO:0014629 "ICD10CM:J84.8" MONDO:0014629 "OMIM:616414" MONDO:0012377 "OMIM:609954" -MONDO:0019846 "ICD10:E23.2" +MONDO:0019846 "ICD10CM:E23.2" MONDO:0019846 "Orphanet:95626" MONDO:0012763 "Orphanet:64280" MONDO:0012763 "OMIM:611942" MONDO:0019026 "OMIM:611490" +MONDO:0019026 "ICD10CM:Q78.2" MONDO:0019026 "OMIM:259710" MONDO:0019026 "Orphanet:667" MONDO:0019026 "OMIMPS:259700" MONDO:0019026 "OMIM:615085" MONDO:0019026 "NCIT:C129733" MONDO:0019026 "OMIM:259700" -MONDO:0019026 "ICD10:Q78.2" MONDO:0019026 "SCTID:367489004" MONDO:0015434 "SCTID:88154004" MONDO:0015434 "UMLS:C0265475" MONDO:0015434 "MESH:C538304" MONDO:0015434 "EFO:0001226" -MONDO:0015434 "ICD10:Q93.2" +MONDO:0015434 "ICD10CM:Q93.2" MONDO:0015434 "GARD:0006077" MONDO:0015434 "Orphanet:1442" MONDO:0021681 "ICD9:099.9" -MONDO:0021681 "ICD10:A50.A64" MONDO:0021681 "MESH:D012749" MONDO:0021681 "SCTID:8098009" +MONDO:0021681 "ICD10CM:A50-A64" MONDO:0021681 "ICD9:099.8" MONDO:0021681 "NCIT:C3365" MONDO:0021681 "UMLS:C0036916" MONDO:0016821 "UMLS:CN227007" -MONDO:0016821 "ICD10:Q87.2" +MONDO:0016821 "ICD10CM:Q87.2" MONDO:0016821 "GARD:0004860" MONDO:0016821 "Orphanet:2580" CL:0000826 "BTO:0003104" @@ -90017,7 +87790,6 @@ MONDO:0002304 "SCTID:1563006" MONDO:0002304 "UMLS:C0242666" MONDO:0002304 "MESH:D018455" MONDO:0002304 "NCIT:C99026" -MONDO:0002304 "ICD10:D68.59" MONDO:0002304 "DOID:2451" MONDO:0002304 "HGNC:9456" MONDO:0002304 "ICD9:289.81" @@ -90032,7 +87804,7 @@ MONDO:0010981 "MESH:C563403" MONDO:0010981 "GARD:0005210" MONDO:0010981 "Orphanet:3328" MONDO:0044248 "OMIM:171200" -MONDO:0019384 "ICD10:A85.8" +MONDO:0019384 "ICD10CM:A85.8" MONDO:0019384 "DOID:5225" MONDO:0019384 "Orphanet:83600" MONDO:0019384 "UMLS:C0014040" @@ -90042,14 +87814,13 @@ MONDO:0019384 "GARD:0006332" MONDO:0019384 "NCIT:C34576" MONDO:0019384 "NCIT:C26761" MONDO:0019384 "MedDRA:10052369" -MONDO:0001618 "ICD10:N47.6" +MONDO:0001618 "ICD10CM:N47.6" MONDO:0001618 "UMLS:C0004691" MONDO:0001618 "SCTID:46090001" MONDO:0001618 "ICD9:607.1" MONDO:0001618 "DOID:13031" MONDO:0018187 "Orphanet:363294" MONDO:0018187 "UMLS:CN204685" -MONDO:0016875 "ICD10:Q93.5" MONDO:0016875 "Orphanet:261811" MONDO:0016704 "UMLS:CN201948" MONDO:0016704 "Orphanet:251668" @@ -90080,7 +87851,8 @@ MONDO:0100376 "NCIT:C36370" MONDO:0011810 "UMLS:C1846496" MONDO:0011810 "GARD:0012682" MONDO:0011810 "SCTID:702381007" -MONDO:0011810 "ICD10:H49.4" +MONDO:0011810 "OMIM:607313" +MONDO:0011810 "ICD10CM:H49.4" MONDO:0011810 "Orphanet:2744" MONDO:0011810 "ICD9:737.43" MONDO:0011810 "MESH:C564593" @@ -90094,7 +87866,6 @@ MONDO:0004125 "NCIT:C5552" MONDO:0004125 "DOID:7160" MONDO:0023097 "GARD:0002202" MONDO:0001787 "DOID:13738" -MONDO:0001787 "ICD10:K76.3" MONDO:0001787 "ICD9:573.4" MONDO:0001787 "SCTID:17890003" MONDO:0001787 "UMLS:C0151731" @@ -90110,15 +87881,12 @@ MONDO:0002127 "HP:0012227" MONDO:0044981 "ICD9:V15.09" MONDO:0044981 "SCTID:609397002" MONDO:0044981 "UMLS:C3662273" -MONDO:0042717 "GARD:0000161" -MONDO:0042717 "UMLS:C2931266" -MONDO:0042717 "MESH:C536617" MONDO:0011009 "OMIM:601170" MONDO:0011009 "UMLS:C1832665" MONDO:0011009 "MESH:C563378" -MONDO:0024325 "SCTID:403971002" -MONDO:0024325 "ICD9:227.6" -MONDO:0024325 "UMLS:C1275227" +MONDO:0042717 "GARD:0000161" +MONDO:0042717 "UMLS:C2931266" +MONDO:0042717 "MESH:C536617" MONDO:0005698 "MESH:D002581" MONDO:0005698 "ICD9:622.5" MONDO:0005698 "SCTID:17382005" @@ -90126,7 +87894,9 @@ MONDO:0005698 "ICD9:654.50" MONDO:0005698 "DOID:9681" MONDO:0005698 "EFO:0007202" MONDO:0005698 "NCIT:C50607" -MONDO:0005698 "ICD10:N88.3" +MONDO:0024325 "SCTID:403971002" +MONDO:0024325 "ICD9:227.6" +MONDO:0024325 "UMLS:C1275227" MONDO:0008069 "MESH:C563530" MONDO:0008069 "OMIM:161700" MONDO:0008069 "UMLS:C1834340" @@ -90144,24 +87914,22 @@ MONDO:0020076 "MedDRA:10028576" MONDO:0020076 "OMIM:131440" MONDO:0020076 "ONCOTREE:MPN" MONDO:0020076 "NCIT:C103126" -MONDO:0020076 "ICD10:D47.1" MONDO:0020076 "EFO:0004251" MONDO:0020076 "ICDO:9975/1" -MONDO:0005503 "EFO:0005548" -MONDO:0005503 "DOID:0060037" -MONDO:0005503 "ICD9:315.8" -MONDO:0005503 "SCTID:129104009" MONDO:0015350 "UMLS:CN199408" MONDO:0015350 "SCTID:719583002" MONDO:0015350 "OMIM:613675" MONDO:0015350 "UMLS:C4304642" -MONDO:0015350 "ICD10:Q92.3" +MONDO:0015350 "OMIM:618874" MONDO:0015350 "Orphanet:139474" +MONDO:0005503 "EFO:0005548" +MONDO:0005503 "DOID:0060037" +MONDO:0005503 "ICD9:315.8" +MONDO:0005503 "SCTID:129104009" MONDO:0008684 "SCTID:718226002" MONDO:0008684 "DOID:0050460" MONDO:0008684 "Orphanet:280" MONDO:0008684 "NCIT:C35528" -MONDO:0008684 "ICD10:Q93.3" MONDO:0008684 "UMLS:C0796117" MONDO:0008684 "MedDRA:10050361" MONDO:0008684 "UMLS:C0796202" @@ -90170,7 +87938,7 @@ MONDO:0008684 "UMLS:CN207113" MONDO:0008684 "OMIM:194190" MONDO:0008684 "UMLS:C1956097" MONDO:0008684 "GARD:0007896" -MONDO:0014009 "ICD10:Q80.2" +MONDO:0008684 "ICD10CM:Q93.3" MONDO:0014009 "OMIM:615022" MONDO:0014009 "UMLS:C3554348" MONDO:0014009 "Orphanet:79394" @@ -90200,15 +87968,14 @@ MONDO:0000169 "OMIMPS:156850" NCBITaxon:2732421 "GC_ID:1" MONDO:0001115 "NCIT:C26955" MONDO:0001115 "SCTID:17342003" -MONDO:0001115 "ICD10:D75.0" MONDO:0001115 "OMIMPS:133100" MONDO:0001115 "DOID:10780" MONDO:0001115 "ICD9:289.6" -MONDO:0003568 "ICD10:H47.4" MONDO:0003568 "UMLS:C0155307" MONDO:0003568 "DOID:5655" MONDO:0003568 "ICD9:377.63" MONDO:0003568 "SCTID:70476006" +MONDO:0003568 "ICD10CM:H47.4" MONDO:0003568 "ICD9:377.5" MONDO:0021460 "UMLS:C0347206" MONDO:0021460 "SCTID:255154009" @@ -90219,7 +87986,6 @@ MONDO:0021113 "MESH:D012131" MONDO:0021113 "DOID:11162" MONDO:0021113 "ICD9:518.81" MONDO:0021113 "NCIT:C27043" -MONDO:0021113 "ICD10:J96.0" MONDO:0021113 "ICD9:518.83" MONDO:0021113 "UMLS:C0264490" MONDO:0021113 "SCTID:65710008" @@ -90227,12 +87993,12 @@ MONDO:0021113 "NCIT:C26872" MONDO:0016424 "OMIM:606346" MONDO:0016424 "UMLS:CN201381" MONDO:0016424 "Orphanet:228012" -MONDO:0007057 "ICD10:M89.5" MONDO:0007057 "Orphanet:955" MONDO:0007057 "UMLS:C0917715" MONDO:0007057 "MESH:C531695" MONDO:0007057 "GARD:0000508" MONDO:0007057 "MESH:C537586" +MONDO:0007057 "ICD10CM:M89.5" MONDO:0007057 "SCTID:63122002" MONDO:0007057 "NCIT:C35545" MONDO:0007057 "OMIM:102400" @@ -90262,7 +88028,7 @@ MONDO:0016791 "Orphanet:254758" MONDO:0012227 "UMLS:C1836506" MONDO:0012227 "OMIM:609256" MONDO:0012227 "MESH:C563761" -MONDO:0015686 "ICD10:C48.2" +MONDO:0015686 "ICD10CM:C48.2" MONDO:0015686 "HP:0030406" MONDO:0015686 "UMLS:CN200184" MONDO:0015686 "NCIT:C40022" @@ -90274,8 +88040,8 @@ MONDO:0054581 "OMIM:107480" MONDO:0002556 "UMLS:C4054526" MONDO:0002556 "NCIT:C5321" CL:0002591 "BTO:0003336" +MONDO:0017865 "ICD10CM:Q22.1" MONDO:0017865 "GARD:0004596" -MONDO:0017865 "ICD10:Q22.1" MONDO:0017865 "OMIM:265500" MONDO:0017865 "MedDRA:10037451" MONDO:0017865 "Orphanet:3189" @@ -90295,12 +88061,10 @@ CL:0002420 "BTO:0001372" MONDO:0010269 "DOID:7765" MONDO:0010269 "SCTID:360455002" MONDO:0010269 "Orphanet:190" -MONDO:0010269 "ICD10:H35.02" -MONDO:0010269 "ICD10:H35.07" MONDO:0010269 "GARD:0006121" MONDO:0010269 "MedDRA:10015901" MONDO:0010269 "OMIM:300216" -MONDO:0010269 "ICD10:H35.0" +MONDO:0010269 "ICD10CM:H35.0" MONDO:0010269 "MESH:D058456" MONDO:0010269 "UMLS:C0154832" MONDO:0010269 "ICD9:362.12" @@ -90310,17 +88074,16 @@ MONDO:0005932 "EFO:0007457" MONDO:0012542 "OMIM:610707" MONDO:0012542 "DOID:0111288" MONDO:0016290 "MESH:C538112" -MONDO:0016290 "ICD10:Q87.8" MONDO:0016290 "Orphanet:2139" MONDO:0016290 "GARD:0003491" MONDO:0016290 "SCTID:721146009" +MONDO:0016290 "ICD10CM:Q87.8" +MONDO:0016909 "ICD10CM:Q93.5" MONDO:0016909 "Orphanet:262083" -MONDO:0016909 "ICD10:Q93.5" MONDO:0016909 "UMLS:C0795839" MONDO:0023275 "GARD:0002557" MONDO:0023275 "SCTID:707530009" MONDO:0023275 "MESH:C537292" -MONDO:0023275 "ICD10:Q85.8" MONDO:0023275 "UMLS:C2931468" MONDO:0023275 "Orphanet:2111" MONDO:0023275 "ICD9:759.6" @@ -90329,8 +88092,6 @@ MONDO:0012800 "MESH:C567418" MONDO:0012800 "UMLS:C2677505" MONDO:0012800 "OMIM:612099" MONDO:0012800 "Orphanet:867" -MONDO:0005119 "ICD10:A22" -MONDO:0005119 "ICD10:A22.9" MONDO:0005119 "SCTID:409498004" MONDO:0005119 "NCIT:C84565" MONDO:0005119 "MESH:D000881" @@ -90357,9 +88118,9 @@ CL:0002303 "FMA:70606" MONDO:0014096 "UMLS:C0796203" MONDO:0014096 "OMIM:615236" MONDO:0014096 "Orphanet:137658" -MONDO:0014096 "ICD10:Q87.8" MONDO:0014096 "GARD:0003498" MONDO:0014096 "SCTID:719396000" +MONDO:0014096 "ICD10CM:Q87.8" MONDO:0010584 "NCIT:C126352" MONDO:0010584 "Orphanet:1775" MONDO:0010584 "GARD:0002007" @@ -90370,20 +88131,20 @@ MONDO:0010584 "UMLS:C1846142" MONDO:0010584 "DOID:0070025" MONDO:0011530 "Orphanet:85170" MONDO:0011530 "OMIM:605274" -MONDO:0011530 "ICD10:Q78.8" +MONDO:0011530 "ICD10CM:Q78.8" MONDO:0011530 "UMLS:C1854470" MONDO:0011530 "MESH:C565349" MONDO:0011530 "SCTID:715652002" MONDO:0011530 "GARD:0010584" -NCBITaxon:76804 "GC_ID:1" MONDO:0013983 "UMLS:C3539920" MONDO:0013983 "Orphanet:238468" MONDO:0013983 "Orphanet:248" MONDO:0013983 "OMIM:614941" MONDO:0013983 "DOID:0111654" +NCBITaxon:76804 "GC_ID:1" MONDO:0011907 "Orphanet:63446" +MONDO:0011907 "ICD10CM:Q78.8" MONDO:0011907 "MESH:C564334" -MONDO:0011907 "ICD10:Q78.8" MONDO:0011907 "OMIM:607778" MONDO:0011907 "SCTID:720416007" MONDO:0011907 "GARD:0010605" @@ -90402,32 +88163,32 @@ MONDO:0003043 "ICD9:171.9" MONDO:0003043 "SCTID:404080006" MONDO:0003043 "DOID:4548" MONDO:0003043 "UMLS:C1275279" +MONDO:0019416 "ICD10CM:Q87.8" MONDO:0019416 "Orphanet:85317" MONDO:0019416 "UMLS:CN206172" -MONDO:0019416 "ICD10:Q87.8" MONDO:0030332 "OMIM:619436" MONDO:0010771 "MESH:C535584" MONDO:0010771 "OMIM:212080" MONDO:0010771 "NCIT:C45745" MONDO:0010771 "UMLS:CN239812" MONDO:0010771 "DOID:0080198" -MONDO:0010771 "ICD10:I42.0" MONDO:0010771 "OMIM:500000" +MONDO:0010771 "ICD10CM:I42.0" MONDO:0010771 "Orphanet:137675" MONDO:0010771 "UMLS:C1708371" MONDO:0010771 "GARD:0009511" MONDO:0009936 "ICD9:748.5" -MONDO:0009936 "ICD10:Q33.6" MONDO:0009936 "UMLS:CN226916" MONDO:0009936 "Orphanet:2257" MONDO:0009936 "OMIM:265430" MONDO:0009936 "SCTID:277656005" +MONDO:0009936 "ICD10CM:Q33.6" MONDO:0012971 "OMIM:612635" MONDO:0015107 "Orphanet:101435" MONDO:0015107 "UMLS:CN197465" MONDO:0032571 "OMIM:618162" -MONDO:0001085 "ICD10:N12" MONDO:0001085 "MESH:D009395" +MONDO:0001085 "ICD10CM:N10-N16" MONDO:0001085 "UMLS:C0027707" MONDO:0001085 "ICD9:583.89" MONDO:0001085 "UMLS:C0041349" @@ -90435,7 +88196,6 @@ MONDO:0001085 "SCTID:28689008" MONDO:0001085 "DOID:1063" MONDO:0001085 "NCIT:C26834" MONDO:0033980 "Orphanet:530792" -MONDO:0016570 "ICD10:C85.7" MONDO:0016570 "SCTID:718200007" MONDO:0016570 "UMLS:C4273669" MONDO:0016570 "Orphanet:2420" @@ -90489,8 +88249,8 @@ MONDO:0001389 "SCTID:28574005" MONDO:0001389 "ICD9:746.85" MONDO:0060611 "OMIM:617780" MONDO:0060611 "UMLS:C4540434" -MONDO:0001272 "ICD10:K59.1" MONDO:0001272 "ICD9:564.5" +MONDO:0001272 "ICD10CM:K59.1" MONDO:0001272 "SCTID:47812002" MONDO:0001272 "DOID:11371" MONDO:0001272 "UMLS:C0156173" @@ -90504,8 +88264,8 @@ MONDO:0019586 "OMIM:304400" MONDO:0019586 "OMIM:300030" MONDO:0019586 "Orphanet:90625" MONDO:0019586 "OMIM:300914" +MONDO:0019586 "ICD10CM:H90.3" MONDO:0019586 "OMIM:304500" -MONDO:0019586 "ICD10:H90.3" MONDO:0019586 "OMIM:300614" MONDO:0019586 "UMLS:CN206422" MONDO:0019239 "Orphanet:79194" @@ -90514,16 +88274,16 @@ MONDO:0017152 "SCTID:697905000" MONDO:0017152 "UMLS:C3697119" MONDO:0017152 "ICD9:416.8" MONDO:0017152 "Orphanet:275803" +MONDO:0017152 "ICD10CM:I27.2" MONDO:0017152 "EFO:0009054" -MONDO:0017152 "ICD10:I27.2" MONDO:0017152 "UMLS:CN243982" MONDO:0020523 "UMLS:C1840403" -MONDO:0020523 "ICD10:E21.0" +MONDO:0020523 "ICD10CM:E21.0" MONDO:0020523 "OMIM:145000" MONDO:0020523 "Orphanet:99877" MONDO:0018389 "Orphanet:399764" -MONDO:0018389 "ICD10:N46" MONDO:0018389 "UMLS:CN227337" +MONDO:0018389 "ICD10CM:N46" MONDO:0000377 "DOID:0050616" MONDO:0000377 "UMLS:C0334410" MONDO:0000377 "ICDO:8650/3" @@ -90534,12 +88294,12 @@ MONDO:0006109 "EFO:1000124" MONDO:0006109 "UMLS:C0334515" MONDO:0006109 "NCIT:C4282" MONDO:0009266 "DOID:0110958" -MONDO:0009266 "ICD10:E75.2" MONDO:0009266 "Orphanet:355" MONDO:0009266 "GARD:0002442" MONDO:0009266 "SCTID:12246008" MONDO:0009266 "Orphanet:77260" MONDO:0009266 "OMIM:230900" +MONDO:0009266 "ICD10CM:E75.2" MONDO:0012615 "OMIM:611093" MONDO:0012615 "Orphanet:88616" MONDO:0012615 "MESH:C567016" @@ -90566,7 +88326,7 @@ MONDO:0007151 "MESH:C566258" MONDO:0004765 "SCTID:266361008" MONDO:0004765 "DOID:9360" MONDO:0004765 "UMLS:C0155880" -MONDO:0004765 "ICD10:J45" +MONDO:0004765 "ICD10CM:J45" MONDO:0004765 "ICD9:493.1" MONDO:0002721 "UMLS:C0271558" MONDO:0002721 "SCTID:59572000" @@ -90575,50 +88335,50 @@ MONDO:0002721 "DOID:3646" MONDO:0008254 "MESH:C566799" MONDO:0008254 "UMLS:C1868258" MONDO:0008254 "OMIM:173420" -MONDO:0012802 "ICD10:Q87.8" +MONDO:0012802 "ICD10CM:Q87.8" MONDO:0012802 "OMIM:612109" MONDO:0012802 "DOID:0060482" MONDO:0012802 "Orphanet:157962" MONDO:0012802 "MESH:C567416" MONDO:0012802 "UMLS:C2677500" MONDO:0060715 "OMIM:617994" -MONDO:0015381 "ICD10:Q38.0" +MONDO:0015381 "ICD10CM:Q38.0" MONDO:0015381 "Orphanet:141061" MONDO:0054748 "OMIM:617883" MONDO:0019972 "Orphanet:97339" -MONDO:0019972 "ICD10:Q28.3" +MONDO:0019972 "ICD10CM:Q28.3" MONDO:0003138 "NCIT:C35801" MONDO:0003138 "SCTID:123609007" MONDO:0003138 "DOID:4782" MONDO:0003138 "UMLS:C1263744" MONDO:0018775 "Orphanet:476109" -MONDO:0009656 "Orphanet:581" -MONDO:0009656 "GARD:0007072" -MONDO:0009656 "Orphanet:79270" MONDO:0009656 "NCIT:C84898" +MONDO:0009656 "ICD10CM:E76.2" +MONDO:0009656 "GARD:0007072" +MONDO:0009656 "UMLS:C0086648" +MONDO:0009656 "Orphanet:581" MONDO:0009656 "OMIM:252920" -MONDO:0009656 "DOID:0111394" MONDO:0009656 "SCTID:59990008" -MONDO:0009656 "ICD10:E76.2" -MONDO:0009656 "UMLS:C0086648" +MONDO:0009656 "DOID:0111394" +MONDO:0009656 "Orphanet:79270" MONDO:0013124 "OMIM:613088" MONDO:0014682 "UMLS:C4225292" MONDO:0014682 "Orphanet:319487" MONDO:0014682 "OMIM:616535" -MONDO:0014261 "ICD10:E88.8" +MONDO:0014261 "ICD10CM:E88.8" MONDO:0014261 "Orphanet:391348" MONDO:0014261 "OMIM:615578" MONDO:0014261 "DOID:0111484" MONDO:0014261 "UMLS:C3810001" MONDO:0021096 "UMLS:C1335324" MONDO:0021096 "NCIT:C8429" -MONDO:0010621 "ICD10:Q87.8" +MONDO:0010621 "UMLS:C0265267" +MONDO:0010621 "MESH:C562515" +MONDO:0010621 "ICD9:759.89" +MONDO:0010621 "ICD10CM:Q87.8" MONDO:0010621 "GARD:0006039" MONDO:0010621 "SCTID:17608003" -MONDO:0010621 "MESH:C562515" -MONDO:0010621 "UMLS:C0265267" MONDO:0010621 "Orphanet:139" -MONDO:0010621 "ICD9:759.89" MONDO:0010621 "OMIM:308050" CL:0002264 "FMA:83411" HP:0001920 "SNOMEDCT_US:302233006" @@ -90631,8 +88391,11 @@ MONDO:0012386 "UMLS:C1864943" MONDO:0012386 "MESH:C536557" MONDO:0012386 "GARD:0009861" MONDO:0024885 "NCIT:C40025" +MONDO:0024538 "UMLS:C1847731" MONDO:0024538 "UMLS:C0393590" +MONDO:0024538 "OMIM:606656" MONDO:0024538 "Orphanet:1980" +MONDO:0024538 "MESH:C537657" MONDO:0024538 "OMIM:213600" MONDO:0024538 "NCIT:C129973" MONDO:0003453 "NCIT:C6120" @@ -90643,9 +88406,9 @@ MONDO:0003453 "ICD9:239.89" MONDO:0007916 "UMLS:CN206410" MONDO:0007916 "OMIM:152800" MONDO:0007916 "Orphanet:90362" -MONDO:0007916 "ICD10:I89.0" MONDO:0007916 "SCTID:6124009" MONDO:0007916 "GARD:0007873" +MONDO:0007916 "ICD10CM:I89.0" MONDO:0007916 "ICD9:457.1" MONDO:0007916 "UMLS:C0267372" MONDO:0009539 "OMIM:247640" @@ -90654,7 +88417,6 @@ MONDO:0009539 "UMLS:C1855472" MONDO:0009539 "MESH:C565429" MONDO:0032909 "OMIM:618775" MONDO:0000950 "DOID:10141" -MONDO:0000950 "ICD10:H53.14" MONDO:0000950 "MESH:D001248" MONDO:0000950 "UMLS:C0004095" MONDO:0012112 "UMLS:C1834460" @@ -90664,24 +88426,23 @@ MONDO:0012112 "DOID:0110316" MONDO:0014565 "Orphanet:98991" MONDO:0014565 "UMLS:C4225389" MONDO:0014565 "Orphanet:91492" -MONDO:0014565 "ICD10:Q12.0" MONDO:0014565 "OMIM:616279" MONDO:0014565 "DOID:0110259" MONDO:0015888 "Orphanet:181381" MONDO:0015888 "UMLS:CN226773" -HP:0001541 "SNOMEDCT_US:389026000" -HP:0001541 "MSH:D001201" -HP:0001541 "UMLS:C0003962" MONDO:0019018 "UMLS:CN205479" MONDO:0019018 "Orphanet:66529" MONDO:0019018 "MESH:D054549" MONDO:0019018 "ICD9:429.83" +MONDO:0019018 "ICD10CM:I42.8" MONDO:0019018 "EFO:1002000" MONDO:0019018 "GARD:0009400" -MONDO:0019018 "ICD10:I42.8" MONDO:0019018 "NCIT:C85181" MONDO:0019018 "UMLS:C1739395" MONDO:0019018 "SCTID:441541008" +HP:0001541 "SNOMEDCT_US:389026000" +HP:0001541 "MSH:D001201" +HP:0001541 "UMLS:C0003962" MONDO:0021283 "NCIT:C4668" MONDO:0021283 "UMLS:C0349663" MONDO:0021283 "SCTID:278042005" @@ -90709,8 +88470,8 @@ MONDO:0006514 "PMID:25935106" MONDO:0006514 "EFO:1000651" MONDO:0015793 "UMLS:C1861753" MONDO:0015793 "OMIM:117000" -MONDO:0015793 "ICD10:G71.2" MONDO:0015793 "Orphanet:178145" +MONDO:0015793 "ICD10CM:G71.2" MONDO:0004240 "UMLS:C0279931" MONDO:0004240 "DOID:7488" MONDO:0004240 "NCIT:C7640" @@ -90723,9 +88484,8 @@ MONDO:0011353 "MESH:C566351" MONDO:0011353 "UMLS:C1863648" MONDO:0018157 "Orphanet:35696" MONDO:0018157 "UMLS:CN227273" -MONDO:0018157 "ICD10:E88.8" +MONDO:0018157 "ICD10CM:E88.8" MONDO:0013553 "DOID:0090009" -MONDO:0013553 "ICD10:D84.8" MONDO:0013553 "OMIM:614069" MONDO:0013553 "UMLS:C3279748" MONDO:0013553 "Orphanet:2268" @@ -90738,7 +88498,7 @@ MONDO:0012804 "OMIM:612124" MONDO:0015630 "NCIT:C131688" MONDO:0015630 "SCTID:359729006" MONDO:0015630 "UMLS:C1282974" -MONDO:0015630 "ICD10:D68.0" +MONDO:0015630 "ICD10CM:D68.0" MONDO:0015630 "Orphanet:166090" MONDO:0015630 "SCTID:359725000" MONDO:0015630 "OMIM:613554" @@ -90753,8 +88513,8 @@ MONDO:0020525 "SCTID:237603002" MONDO:0020525 "GARD:0001839" MONDO:0020525 "DOID:0060334" MONDO:0020525 "Orphanet:99886" -MONDO:0020525 "ICD10:P70.2" MONDO:0020525 "OMIM:610582" +MONDO:0020525 "ICD10CM:P70.2" MONDO:0020525 "OMIM:610374" MONDO:0020525 "HP:0008255" MONDO:0012794 "UMLS:C2677535" @@ -90762,7 +88522,7 @@ MONDO:0012794 "MESH:C567425" MONDO:0012794 "Orphanet:157954" MONDO:0012794 "OMIM:612079" MONDO:0010213 "NCIT:C114771" -MONDO:0010213 "ICD10:Q82.1" +MONDO:0010213 "ICD10CM:Q82.1" MONDO:0010213 "DOID:0110846" MONDO:0010213 "SCTID:56048001" MONDO:0010213 "MESH:C564732" @@ -90788,6 +88548,7 @@ MONDO:0003069 "DOID:4639" MONDO:0019751 "UMLS:C3890737" MONDO:0019751 "NCIT:C119050" MONDO:0019751 "Orphanet:93665" +MONDO:0019751 "ICD10CM:M04-M04" MONDO:0019751 "UMLS:C3267073" MONDO:0019751 "MedDRA:10072220" MONDO:0008489 "OMIM:184800" @@ -90802,7 +88563,7 @@ MONDO:0021605 "NCIT:C4354" MONDO:0021605 "UMLS:C0339107" MONDO:0007001 "MedDRA:10066862" MONDO:0007001 "EFO:1001218" -MONDO:0007001 "ICD10:Q22.8" +MONDO:0007001 "ICD10CM:Q22.8" MONDO:0007001 "UMLS:C0040962" MONDO:0007001 "MESH:D014263" MONDO:0007001 "Orphanet:95458" @@ -90811,7 +88572,7 @@ MONDO:0007001 "SCTID:253383003" MONDO:0007001 "DOID:5644" NCBITaxon:3754 "GC_ID:1" NCBITaxon:3754 "PMID:24631854" -MONDO:0020408 "ICD10:Q21.2" +MONDO:0020408 "ICD10CM:Q21.2" MONDO:0020408 "Orphanet:99068" MONDO:0020408 "UMLS:CN207280" MONDO:0014040 "Orphanet:667" @@ -90850,8 +88611,8 @@ MONDO:0001944 "ICD9:084.5" MONDO:0001944 "SCTID:21070001" MONDO:0001944 "UMLS:C0153121" MONDO:0001944 "DOID:14325" +MONDO:0017542 "ICD10CM:Q69.2" MONDO:0017542 "Orphanet:295185" -MONDO:0017542 "ICD10:Q69.2" MONDO:0007886 "SCTID:146801000119103" MONDO:0007886 "NCIT:C3434" MONDO:0007886 "UMLS:C0042133" @@ -90860,13 +88621,11 @@ MONDO:0007886 "ICD9:218" MONDO:0007886 "ICD9:218.9" MONDO:0007886 "MESH:D007889" MONDO:0007886 "NCIT:C3157" -MONDO:0007886 "ICD10:D25.9" MONDO:0007886 "HP:0000131" MONDO:0007886 "ONCOTREE:ULM" MONDO:0007886 "SCTID:95315005" MONDO:0007886 "UMLS:C2242776" MONDO:0007886 "OMIM:150699" -MONDO:0007886 "ICD10:D25" MONDO:0007886 "EFO:0000731" MONDO:0007886 "NCIT:C7052" MONDO:0007886 "DOID:13223" @@ -90875,17 +88634,19 @@ NCBITaxon:1658400 "GC_ID:1" HP:0001320 "UMLS:C1840379" MONDO:0032656 "OMIM:618284" MONDO:0010036 "Orphanet:103908" -MONDO:0010036 "ICD10:P78.3" MONDO:0010036 "DOID:0060781" MONDO:0010036 "OMIM:270420" MONDO:0003303 "UMLS:C1333751" MONDO:0003303 "NCIT:C5746" MONDO:0003303 "DOID:5150" MONDO:0016783 "Orphanet:254534" -MONDO:0016783 "ICD10:Q99.8" +MONDO:0016783 "ICD10CM:Q99.8" MONDO:0016783 "UMLS:CN202039" +MONDO:0017425 "GARD:0012767" +MONDO:0017425 "Orphanet:294939" +MONDO:0017425 "OMIMPS:174400" +MONDO:0017425 "ICD10CM:Q69.1" MONDO:0005230 "DOID:3488" -MONDO:0005230 "ICD10:L03.90" MONDO:0005230 "ICD9:682.9" MONDO:0005230 "ICD9:682.8" MONDO:0005230 "NCIT:C26715" @@ -90894,10 +88655,6 @@ MONDO:0005230 "SCTID:128045006" MONDO:0005230 "HP:0100658" MONDO:0005230 "MESH:D002481" MONDO:0005230 "EFO:0003035" -MONDO:0017425 "ICD10:Q69.1" -MONDO:0017425 "GARD:0012767" -MONDO:0017425 "Orphanet:294939" -MONDO:0017425 "OMIMPS:174400" MONDO:0018983 "UMLS:CN205421" MONDO:0018983 "UMLS:C0392060" MONDO:0018983 "NCIT:C85193" @@ -90907,19 +88664,20 @@ MONDO:0018983 "MESH:D020333" MONDO:0018983 "SCTID:95794005" MONDO:0018983 "GARD:0007777" MONDO:0018983 "UMLS:C0040381" +MONDO:0018983 "ICD10CM:H49.8" MONDO:0018983 "Orphanet:64686" -MONDO:0018983 "ICD10:H49.8" MONDO:0008747 "SCTID:63450009" -MONDO:0008747 "GARD:0009641" -MONDO:0008747 "ICD9:270.2" -MONDO:0008747 "OMIM:203290" -MONDO:0008747 "GARD:0004039" -MONDO:0008747 "ICD10:E70.3" MONDO:0008747 "DOID:0070097" MONDO:0008747 "Orphanet:79433" MONDO:0008747 "MESH:C537731" -MONDO:0009821 "ICD10:Q78.2" +MONDO:0008747 "GARD:0004039" +MONDO:0008747 "OMIM:278400" +MONDO:0008747 "GARD:0009641" +MONDO:0008747 "OMIM:203290" +MONDO:0008747 "ICD10CM:E70.3" +MONDO:0008747 "ICD9:270.2" MONDO:0009821 "UMLS:C1850106" +MONDO:0009821 "ICD10CM:Q78.2" MONDO:0009821 "MESH:C535282" MONDO:0009821 "Orphanet:1832" MONDO:0009821 "GARD:0000282" @@ -90930,16 +88688,15 @@ MONDO:0018124 "GARD:0009652" MONDO:0018124 "SCTID:392559009" MONDO:0018124 "UMLS:C1274103" MONDO:0018124 "Orphanet:352540" -MONDO:0018124 "ICD10:M83.8" +MONDO:0018124 "ICD10CM:M83.8" MONDO:0017835 "UMLS:CN203810" -MONDO:0017835 "ICD10:D47.5" MONDO:0017835 "Orphanet:314970" MONDO:0012607 "OMIM:611064" -MONDO:0007918 "ICD10:Q87.8" MONDO:0007918 "MESH:C537711" MONDO:0007918 "OMIM:152950" MONDO:0007918 "DOID:0060349" MONDO:0007918 "UMLS:C1835265" +MONDO:0007918 "ICD10CM:Q87.8" MONDO:0007918 "Orphanet:2526" MONDO:0007918 "GARD:0003622" MONDO:0016620 "SCTID:88220006" @@ -90950,32 +88707,33 @@ MONDO:0016620 "OMIM:259100" MONDO:0016620 "Orphanet:248095" MONDO:0016620 "Orphanet:1525" MONDO:0016620 "MedDRA:10051686" +MONDO:0016620 "ICD10CM:M89.4" MONDO:0016620 "OMIM:167100" MONDO:0016620 "OMIMPS:259100" MONDO:0016620 "UMLS:CN202658" MONDO:0016620 "MESH:D010004" MONDO:0016620 "NCIT:C85023" MONDO:0016620 "UMLS:C0029411" -MONDO:0016620 "ICD10:M89.4" MONDO:0016620 "GARD:0007299" MONDO:0006749 "MESH:D018332" MONDO:0006749 "NCIT:C66756" MONDO:0006749 "ICDO:8770/3" MONDO:0006749 "SCTID:254811006" MONDO:0006749 "EFO:1000925" +MONDO:0004335 "ICD9:V47.3" +MONDO:0004335 "NCIT:C2990" MONDO:0004335 "DOID:77" -MONDO:0004335 "SCTID:53619000" -MONDO:0004335 "MESH:D005767" MONDO:0004335 "ICD9:520-579.99" +MONDO:0004335 "ICD10CM:K90-K95" +MONDO:0004335 "ICD10CM:P76-P78" +MONDO:0004335 "MESH:D005767" +MONDO:0004335 "ICD10CM:K00-K95" +MONDO:0004335 "SCTID:53619000" MONDO:0004335 "EFO:0000405" -MONDO:0004335 "ICD10:K92.9" -MONDO:0004335 "NCIT:C2990" -MONDO:0004335 "ICD9:V47.3" MONDO:0013788 "Orphanet:231183" MONDO:0013788 "DOID:0110842" MONDO:0013788 "Orphanet:886" MONDO:0013788 "OMIM:614504" -MONDO:0013788 "ICD10:H35.5" MONDO:0013788 "UMLS:C3281066" MONDO:0011203 "Orphanet:140" MONDO:0011203 "UMLS:C1865783" @@ -90983,23 +88741,20 @@ MONDO:0011203 "OMIM:602196" MONDO:0011203 "GARD:0010090" MONDO:0011203 "MESH:C535775" MONDO:0017365 "Orphanet:2907" -MONDO:0017365 "ICD10:Q82.8" +MONDO:0017365 "ICD10CM:Q82.8" MONDO:0018007 "Orphanet:329813" MONDO:0018007 "UMLS:CN230278" MONDO:0001274 "UMLS:C0152167" -MONDO:0001274 "ICD10:K59.4" MONDO:0001274 "SCTID:17440005" +MONDO:0001274 "ICD10CM:K59.4" MONDO:0001274 "ICD9:564.6" MONDO:0001274 "DOID:11374" -MONDO:0002220 "ICD10:K03.89" -MONDO:0002220 "ICD10:K03.8" -MONDO:0002220 "ICD10:K03" MONDO:0002220 "ICD9:521.8" MONDO:0002220 "ICD9:521.89" MONDO:0002220 "UMLS:C0155926" MONDO:0002220 "DOID:214" MONDO:0002220 "SCTID:46557008" -MONDO:0005737 "ICD10:A98.4" +MONDO:0002220 "ICD10CM:K03" MONDO:0005737 "DOID:4325" MONDO:0005737 "Orphanet:319218" MONDO:0005737 "MedDRA:10014071" @@ -91016,21 +88771,21 @@ MONDO:0009479 "DOID:14694" MONDO:0009479 "UMLS:C0175692" MONDO:0009479 "Orphanet:2315" MONDO:0009479 "OMIM:243800" -MONDO:0009479 "ICD10:Q87.8" MONDO:0009479 "EFO:0001063" MONDO:0009479 "ICD9:759.89" MONDO:0009479 "MESH:C535880" MONDO:0009479 "MESH:C564907" +MONDO:0009479 "ICD10CM:Q87.8" MONDO:0009479 "SCTID:75979009" +MONDO:0004650 "ICD10CM:C75.4" MONDO:0004650 "UMLS:C0153656" MONDO:0004650 "ICD9:194.5" MONDO:0004650 "DOID:8731" -MONDO:0004650 "ICD10:C75.4" MONDO:0004650 "SCTID:447883002" MONDO:0004650 "NCIT:C3574" MONDO:0030835 "OMIM:619090" +MONDO:0017248 "ICD10CM:Q33.0" MONDO:0017248 "Orphanet:280827" -MONDO:0017248 "ICD10:Q33.0" MONDO:0004978 "EFO:0000266" MONDO:0004978 "DOID:1712" MONDO:0004978 "OMIM:109730" @@ -91040,8 +88795,6 @@ MONDO:0004978 "ICD9:395.0" MONDO:0004978 "UMLS:C0155567" MONDO:0004978 "OMIM:614823" MONDO:0004978 "ICD9:746.3" -MONDO:0004978 "ICD10:I06.0" -MONDO:0004978 "ICD10:Q23.0" MONDO:0004978 "NCIT:C50462" MONDO:0003661 "SCTID:278052009" MONDO:0003661 "DOID:5826" @@ -91064,8 +88817,8 @@ MONDO:0002934 "UMLS:C1334267" MONDO:0002934 "NCIT:C5355" MONDO:0010780 "UMLS:C3151898" MONDO:0010780 "OMIM:500009" +MONDO:0010780 "ICD10CM:G71.3" MONDO:0010780 "Orphanet:254864" -MONDO:0010780 "ICD10:G71.3" MONDO:0006380 "UMLS:C1709578" MONDO:0006380 "EFO:1000486" MONDO:0006380 "NCIT:C45663" @@ -91073,7 +88826,6 @@ NCBITaxon:9922 "GC_ID:1" MONDO:0019354 "Orphanet:828" MONDO:0019354 "OMIM:614284" MONDO:0019354 "ICD9:759.89" -MONDO:0019354 "ICD10:Q87.0" MONDO:0019354 "MESH:C537492" MONDO:0019354 "GARD:0010782" MONDO:0019354 "OMIM:609508" @@ -91084,6 +88836,7 @@ MONDO:0019354 "OMIM:184840" MONDO:0019354 "OMIM:604841" MONDO:0019354 "MedDRA:10063402" MONDO:0019354 "UMLS:C0265253" +MONDO:0019354 "ICD10CM:Q87.0" MONDO:0019354 "OMIMPS:108300" MONDO:0019354 "NCIT:C74984" MONDO:0019354 "SCTID:78675000" @@ -91091,15 +88844,15 @@ MONDO:0030270 "OMIM:619319" MONDO:0033646 "OMIM:619055" MONDO:0016236 "MESH:C537007" MONDO:0016236 "GARD:0003077" +MONDO:0016236 "ICD10CM:D18.0" MONDO:0016236 "UMLS:C1367420" MONDO:0016236 "NCIT:C27510" -MONDO:0016236 "ICD10:D18.0" MONDO:0016236 "Orphanet:2122" MONDO:0016236 "SCTID:403983000" MONDO:0014924 "UMLS:C4310709" MONDO:0014924 "OMIM:617116" MONDO:0011197 "MESH:C566575" -MONDO:0011197 "ICD10:G60.0" +MONDO:0011197 "ICD10CM:G60.0" MONDO:0011197 "UMLS:C1865856" MONDO:0011197 "OMIM:602107" MONDO:0011197 "SCTID:715645004" @@ -91111,7 +88864,7 @@ MONDO:0006224 "NCIT:C4373" MONDO:0006224 "EFO:1000271" MONDO:0006224 "SCTID:235685007" MONDO:0006224 "UMLS:C0341225" -MONDO:0019612 "ICD10:D35.2" +MONDO:0019612 "ICD10CM:D35.2" MONDO:0019612 "UMLS:C0346304" MONDO:0019612 "Orphanet:91348" MONDO:0019612 "SCTID:254960002" @@ -91127,18 +88880,18 @@ MONDO:0009600 "UMLS:C1855174" MONDO:0010812 "OMIM:600084" MONDO:0010812 "MESH:C564004" MONDO:0010812 "UMLS:C1838656" +MONDO:0001946 "ICD10CM:E28.0" MONDO:0001946 "SCTID:37295009" MONDO:0001946 "EFO:0009004" MONDO:0001946 "NCIT:C113344" MONDO:0001946 "UMLS:C0154209" MONDO:0001946 "DOID:14336" -MONDO:0001946 "ICD10:E28.0" MONDO:0001946 "ICD9:256.0" MONDO:0017614 "UMLS:C0796264" -MONDO:0017614 "ICD10:Q87.8" MONDO:0017614 "Orphanet:3055" MONDO:0017614 "GARD:0000345" MONDO:0017614 "MESH:C536715" +MONDO:0017614 "ICD10CM:Q87.8" MONDO:0008936 "OMIM:212850" MONDO:0008936 "UMLS:C1859304" MONDO:0008936 "MESH:C565869" @@ -91148,26 +88901,25 @@ MONDO:0004266 "UMLS:C1266027" MONDO:0004266 "ONCOTREE:AGA" MONDO:0004266 "ICDO:8215/3" MONDO:0004266 "NCIT:C5609" -MONDO:0007665 "ICD10:H40.11" MONDO:0007665 "DOID:1070" MONDO:0007665 "SCTID:77075001" MONDO:0007665 "NCIT:C35394" MONDO:0007665 "ICD9:365.11" MONDO:0007665 "OMIM:137760" -MONDO:0007665 "ICD10:H40.1" +MONDO:0007665 "ICD10CM:H40.1" MONDO:0007665 "MESH:C562750" MONDO:0032658 "OMIM:618286" MONDO:0014778 "UMLS:C4225202" MONDO:0014778 "Orphanet:530983" MONDO:0014778 "OMIM:616803" -MONDO:0010428 "ICD10:Q99.8" +MONDO:0010428 "ICD10CM:Q99.8" MONDO:0010428 "GARD:0012766" MONDO:0010428 "Orphanet:217377" MONDO:0010428 "SCTID:721881008" MONDO:0010428 "OMIM:300801" MONDO:0010428 "DOID:0060461" MONDO:0010428 "MESH:C567585" -MONDO:0019729 "ICD10:D89.8" +MONDO:0019729 "ICD10CM:D89.8" MONDO:0019729 "UMLS:CN206636" MONDO:0019729 "Orphanet:93557" HP:0001626 "SNOMEDCT_US:49601007" @@ -91176,8 +88928,8 @@ HP:0001626 "MSH:D002318" HP:0001626 "MSH:D018376" HP:0001626 "UMLS:C0243050" MONDO:0060455 "OMIM:301015" +MONDO:0015832 "ICD10CM:Q51.4" MONDO:0015832 "Orphanet:180074" -MONDO:0015832 "ICD10:Q51.4" MONDO:0008819 "UMLS:C1859725" MONDO:0008819 "MESH:C565941" MONDO:0008819 "OMIM:208060" @@ -91190,7 +88942,6 @@ MONDO:0025514 "GARD:0012784" MONDO:0025514 "UMLS:C0343081" MONDO:0025514 "Orphanet:542643" MONDO:0025514 "ICD10CM:L95.0" -MONDO:0025514 "ICD10:L95.0" MONDO:0025514 "ICD9:709.1" MONDO:0025514 "SCTID:238762002" MONDO:0004453 "UMLS:C1515309" @@ -91205,7 +88956,7 @@ MONDO:0009594 "MESH:C565400" MONDO:0009594 "OMIM:250230" MONDO:0009594 "UMLS:C1855217" MONDO:0011869 "UMLS:C1843477" -MONDO:0011869 "ICD10:Q81.0" +MONDO:0011869 "ICD10CM:Q81.0" MONDO:0011869 "OMIM:607600" MONDO:0011869 "MESH:C564368" MONDO:0011869 "Orphanet:89839" @@ -91224,37 +88975,37 @@ MONDO:0002713 "NCIT:C3019" MONDO:0002713 "EFO:1000923" MONDO:0002713 "DOID:3618" MONDO:0002713 "UMLS:C0014536" -MONDO:0005894 "DOID:12662" -MONDO:0005894 "ICD10:B41.8" -MONDO:0005894 "MedDRA:10061906" -MONDO:0005894 "SCTID:36866003" -MONDO:0005894 "MESH:D010229" MONDO:0005894 "GARD:0007323" -MONDO:0005894 "ICD10:B41" -MONDO:0005894 "ICD10:B41.7" MONDO:0005894 "Orphanet:73260" -MONDO:0005894 "NCIT:C34891" -MONDO:0005894 "ICD10:B41.0" -MONDO:0005894 "ICD9:116.1" +MONDO:0005894 "ICD10CM:B41" +MONDO:0005894 "SCTID:36866003" +MONDO:0005894 "MedDRA:10061906" +MONDO:0005894 "ICD10CM:B41.9" +MONDO:0005894 "ICD10CM:B41.7" +MONDO:0005894 "MESH:D010229" +MONDO:0005894 "DOID:12662" MONDO:0005894 "EFO:0007417" +MONDO:0005894 "ICD9:116.1" +MONDO:0005894 "ICD10CM:B41.8" MONDO:0005894 "UMLS:C0030409" -MONDO:0005894 "ICD10:B41.9" +MONDO:0005894 "ICD10CM:B41.0" +MONDO:0005894 "NCIT:C34891" MONDO:0015069 "NCIT:C96540" MONDO:0015069 "UMLS:CN197362" MONDO:0015069 "Orphanet:100082" MONDO:0008411 "Orphanet:3138" MONDO:0008411 "UMLS:C1866994" +MONDO:0008411 "ICD10CM:Q71.8" MONDO:0008411 "DOID:0060614" MONDO:0008411 "ICD9:759.89" MONDO:0008411 "OMIM:181450" MONDO:0008411 "MESH:C536937" MONDO:0008411 "GARD:0000118" -MONDO:0008411 "ICD10:Q71.8" MONDO:0008411 "SCTID:700211007" MONDO:0012074 "GARD:0009989" MONDO:0012074 "OMIM:608612" MONDO:0012074 "Orphanet:90154" -MONDO:0012074 "ICD10:Q87.5" +MONDO:0012074 "ICD10CM:Q87.5" MONDO:0012074 "MESH:C535706" MONDO:0012074 "Orphanet:2457" MONDO:0012074 "UMLS:C1837756" @@ -91267,15 +89018,14 @@ MONDO:0000755 "DOID:0060329" MONDO:0000755 "GARD:0006318" MONDO:0000755 "NCIT:C34945" MONDO:0000755 "SCTID:34801009" -MONDO:0000755 "ICD10:O00.9" MONDO:0000755 "ICD9:633.90" MONDO:0000755 "ICD9:633.9" -MONDO:0000755 "ICD10:O00" +MONDO:0000755 "ICD10CM:O00-O08" MONDO:0007214 "OMIM:112450" MONDO:0007214 "UMLS:C1862162" +MONDO:0007214 "ICD10CM:Q73.8" MONDO:0007214 "GARD:0000972" MONDO:0007214 "Orphanet:1278" -MONDO:0007214 "ICD10:Q73.8" MONDO:0007214 "DOID:0110962" MONDO:0007214 "MESH:C537087" MONDO:0005902 "DOID:4378" @@ -91284,13 +89034,7 @@ MONDO:0005902 "EFO:0007425" MONDO:0005902 "MESH:D021183" MONDO:0005902 "UMLS:C0559470" MONDO:0005902 "SCTID:91935009" -MONDO:0014253 "NCIT:C39577" -MONDO:0014253 "OMIM:615559" -MONDO:0014253 "ICD10:D47.9" -MONDO:0014253 "UMLS:C1519711" -MONDO:0014253 "UMLS:C3809928" MONDO:0014253 "Orphanet:3261" -MONDO:0014253 "DOID:0110119" NCBITaxon:694002 "GC_ID:1" MONDO:0012941 "OMIM:612567" MONDO:0012941 "DOID:0110909" @@ -91300,42 +89044,42 @@ MONDO:0012941 "Orphanet:238569" MONDO:0002936 "DOID:4278" MONDO:0002936 "NCIT:C6386" MONDO:0002936 "UMLS:C1335934" -MONDO:0018604 "ICD10:C18.4" -MONDO:0018604 "ICD10:C18.7" +MONDO:0018604 "ICD10CM:C18.2" +MONDO:0018604 "ICD10CM:C18.7" +MONDO:0018604 "ICD10CM:C18.4" MONDO:0018604 "NCIT:C120084" -MONDO:0018604 "ICD10:C18.1" -MONDO:0018604 "ICD10:C18.6" -MONDO:0018604 "ICD10:C18.3" +MONDO:0018604 "ICD10CM:C18.1" +MONDO:0018604 "ICD10CM:C18.6" MONDO:0018604 "UMLS:CN237636" MONDO:0018604 "Orphanet:440437" -MONDO:0018604 "ICD10:C18.5" -MONDO:0018604 "ICD10:C18.0" +MONDO:0018604 "ICD10CM:C18.3" MONDO:0018604 "UMLS:C3896578" -MONDO:0018604 "ICD10:C18.2" +MONDO:0018604 "ICD10CM:C18.0" +MONDO:0018604 "ICD10CM:C18.5" CL:1000298 "FMA:256516" MONDO:0011008 "UMLS:C2931750" +MONDO:0011008 "ICD10CM:Q87.8" MONDO:0011008 "SCTID:719456001" MONDO:0011008 "OMIM:601165" MONDO:0011008 "MESH:C538160" MONDO:0011008 "Orphanet:2001" MONDO:0011008 "GARD:0003430" -MONDO:0011008 "ICD10:Q87.8" MONDO:0009852 "DOID:0050734" MONDO:0009852 "OMIM:261000" MONDO:0009852 "GARD:0003024" +MONDO:0009852 "ICD10CM:D51.0" MONDO:0009852 "SCTID:60504009" MONDO:0009852 "UMLS:C1394891" MONDO:0009852 "Orphanet:332" MONDO:0009852 "MESH:C563242" MONDO:0009852 "OMIM:243320" MONDO:0009852 "MedDRA:10070440" -MONDO:0009852 "ICD10:D51.0" MONDO:0009852 "ICD9:281.3" MONDO:0013320 "UMLS:C3150858" +MONDO:0013320 "ICD10CM:Q93.5" MONDO:0013320 "OMIM:613604" MONDO:0013320 "UMLS:C4304597" MONDO:0013320 "DOID:0060400" -MONDO:0013320 "ICD10:Q93.5" MONDO:0013320 "SCTID:719576009" MONDO:0013320 "Orphanet:261211" MONDO:0014926 "UMLS:C4310707" @@ -91344,18 +89088,18 @@ MONDO:0021292 "SCTID:92549006" MONDO:0021292 "NCIT:C4430" MONDO:0021292 "UMLS:C0345805" MONDO:0016822 "Orphanet:2582" -MONDO:0016822 "ICD10:M35.8" MONDO:0016822 "MedDRA:10014952" +MONDO:0016822 "ICD10CM:M35.8" MONDO:0020485 "MESH:C537504" +MONDO:0020485 "ICD10CM:G71.2" MONDO:0020485 "OMIM:145600" MONDO:0020485 "MESH:C536883" MONDO:0020485 "GARD:0008433" MONDO:0020485 "SCTID:764957003" MONDO:0020485 "Orphanet:99741" -MONDO:0020485 "ICD10:G71.2" MONDO:0020485 "GARD:0008561" +MONDO:0012449 "ICD10CM:G11.2" MONDO:0012449 "MESH:C537201" -MONDO:0012449 "ICD10:G11.2" MONDO:0012449 "UMLS:C1853250" MONDO:0012449 "OMIM:610245" MONDO:0012449 "Orphanet:101108" @@ -91372,7 +89116,7 @@ MONDO:0011362 "UMLS:C1863599" MONDO:0011362 "MESH:C566343" MONDO:0011362 "OMIM:607569" MONDO:0011362 "DOID:0111188" -MONDO:0011362 "ICD10:G71.0" +MONDO:0011362 "ICD10CM:G71.0" MONDO:0011362 "OMIM:603689" MONDO:0011362 "SCTID:733490006" MONDO:0011362 "UMLS:C1843633" @@ -91389,33 +89133,33 @@ NCBITaxon:1649845 "GC_ID:11" MONDO:0005896 "EFO:0007419" MONDO:0005896 "MESH:D018184" MONDO:0016705 "ICDO:9431/1" -MONDO:0016705 "ICD10:C71.9" MONDO:0016705 "UMLS:C2363903" MONDO:0016705 "Orphanet:251671" MONDO:0016705 "NCIT:C92552" +MONDO:0016705 "ICD10CM:C71.9" MONDO:0016705 "ONCOTREE:ANGL" MONDO:0000261 "UMLS:C0001427" MONDO:0000261 "SCTID:70020005" MONDO:0000261 "UMLS:C0396023" -MONDO:0000261 "ICD10:J35.02" +MONDO:0000261 "ICD10CM:J35.02" MONDO:0000261 "ICD9:474.01" MONDO:0000261 "DOID:0050145" MONDO:0020368 "SCTID:204152008" -MONDO:0020368 "ICD10:Q15.0" MONDO:0020368 "MedDRA:10058653" MONDO:0020368 "OMIM:602482" MONDO:0020368 "ICD9:743.44" MONDO:0020368 "OMIM:601631" MONDO:0020368 "Orphanet:98978" +MONDO:0020368 "ICD10CM:Q15.0" MONDO:0041366 "SCTID:29608009" MONDO:0022968 "GARD:0006268" -MONDO:0012764 "ICD10:D82.8" MONDO:0012764 "UMLS:C2677792" MONDO:0012764 "MESH:C567453" MONDO:0012764 "EFO:0009055" MONDO:0012764 "DOID:0090113" MONDO:0012764 "OMIM:611943" MONDO:0012764 "Orphanet:420741" +MONDO:0012764 "ICD10CM:D82.8" MONDO:0013710 "DOID:0070272" MONDO:0013710 "OMIM:614350" MONDO:0013710 "Orphanet:144" @@ -91423,7 +89167,7 @@ MONDO:0013710 "UMLS:C1833477" MONDO:0013710 "MESH:C563456" MONDO:0015435 "SCTID:765484001" MONDO:0015435 "MESH:C538310" -MONDO:0015435 "ICD10:Q93.2" +MONDO:0015435 "ICD10CM:Q93.2" MONDO:0015435 "GARD:0001333" MONDO:0015435 "Orphanet:1443" MONDO:0015435 "UMLS:CN036553" @@ -91432,24 +89176,23 @@ MONDO:0043541 "NCIT:C34509" MONDO:0043541 "SCTID:45261009" MONDO:0043541 "MESH:D003236" MONDO:0016993 "UMLS:CN202307" -MONDO:0016993 "ICD10:Q80.8" +MONDO:0016993 "ICD10CM:Q80.8" MONDO:0016993 "Orphanet:263558" MONDO:0019177 "SCTID:722064003" MONDO:0019177 "Orphanet:77295" -MONDO:0019177 "ICD10:E75.2" MONDO:0019177 "OMIM:607694" MONDO:0019177 "GARD:0009632" +MONDO:0019177 "ICD10CM:E75.2" MONDO:0002528 "UMLS:C0476203" MONDO:0002528 "NCIT:C8964" MONDO:0002528 "DOID:315" MONDO:0002305 "SCTID:234467004" -MONDO:0002305 "UMLS:C0398623" MONDO:0002305 "NCIT:C84479" +MONDO:0002305 "UMLS:C0398623" MONDO:0002305 "MESH:D019851" MONDO:0002305 "Orphanet:64738" MONDO:0002305 "ICD9:286.9" MONDO:0002305 "DOID:2452" -MONDO:0002305 "ICD10:D68.59" MONDO:0003863 "SCTID:404039004" MONDO:0003863 "ICD9:171.9" MONDO:0003863 "NCIT:C4748" @@ -91469,11 +89212,11 @@ MONDO:0019385 "GARD:0008570" MONDO:0019385 "Orphanet:83601" MONDO:0019385 "MESH:C535841" MONDO:0019385 "UMLS:C0393639" -MONDO:0019385 "ICD10:G04.8" +MONDO:0019385 "ICD10CM:G04.8" MONDO:0044617 "Orphanet:482606" MONDO:0044982 "UMLS:C3662272" MONDO:0044982 "SCTID:609398007" -MONDO:0016876 "ICD10:Q93.5" +MONDO:0016876 "ICD10CM:Q93.5" MONDO:0016876 "Orphanet:261816" NCBITaxon:2731342 "GC_ID:1" MONDO:0003969 "DOID:670" @@ -91487,9 +89230,8 @@ MONDO:0002715 "NCIT:C3552" MONDO:0002715 "SCTID:126908007" MONDO:0002715 "MESH:D014594" MONDO:0002715 "NCIT:C3435" -MONDO:0002715 "ICD10:C55" MONDO:0002715 "DOID:363" -MONDO:0015351 "ICD10:G60.8" +MONDO:0015351 "ICD10CM:G60.8" MONDO:0015351 "Orphanet:139512" MONDO:0015351 "UMLS:CN199414" MONDO:0015351 "SCTID:723497003" @@ -91501,7 +89243,6 @@ MONDO:0008685 "ICD9:426.7" MONDO:0008685 "NCIT:C35132" MONDO:0008685 "DOID:384" MONDO:0008685 "EFO:1001450" -MONDO:0008685 "ICD10:I45.6" MONDO:0024913 "MESH:D002418" MONDO:0024913 "UMLS:C0007453" MONDO:0004089 "DOID:7047" @@ -91525,7 +89266,7 @@ MONDO:0005035 "ONCOTREE:GNBL" MONDO:0005035 "NIFSTD:birnlex_12633" NCBITaxon:526524 "PMID:23606477" NCBITaxon:526524 "GC_ID:11" -MONDO:0006118 "ICD10:N60.3" +MONDO:0006118 "ICD10CM:N60.3" MONDO:0006118 "EFO:1000145" MONDO:0006118 "UMLS:C0156318" MONDO:0006118 "NCIT:C3660" @@ -91536,7 +89277,7 @@ MONDO:0100377 "NCIT:C132102" MONDO:0100377 "NCIT:C132101" NCBITaxon:2732422 "GC_ID:1" MONDO:0017480 "Orphanet:295057" -MONDO:0017480 "ICD10:Q72.0" +MONDO:0017480 "ICD10CM:Q72.0" MONDO:0004297 "DOID:7599" MONDO:0004297 "NCIT:C7998" MONDO:0004297 "UMLS:C0279706" @@ -91551,7 +89292,6 @@ MONDO:0001788 "ICD9:573.0" MONDO:0001788 "SCTID:34736002" MONDO:0001788 "DOID:13739" MONDO:0001788 "UMLS:C0156195" -MONDO:0001788 "ICD10:K76.1" MONDO:0000534 "SCTID:707379000" MONDO:0000534 "UMLS:C3873401" MONDO:0000534 "DOID:0050919" @@ -91571,24 +89311,24 @@ CL:0000723 "FMA:63368" MONDO:0020077 "Orphanet:98275" MONDO:0020077 "GARD:0009351" MONDO:0020077 "MESH:D054437" -MONDO:0005504 "DOID:11405" -MONDO:0005504 "ICD9:032" -MONDO:0005504 "ICD10:A36.0" -MONDO:0005504 "ICD10:A36.9" -MONDO:0005504 "NCIT:C34541" -MONDO:0005504 "ICD10:A36.2" +MONDO:0005504 "Orphanet:1679" MONDO:0005504 "MedDRA:10013023" -MONDO:0005504 "EFO:0005549" +MONDO:0005504 "ICD10CM:A36" +MONDO:0005504 "MESH:D004165" +MONDO:0005504 "ICD10CM:A36.3" +MONDO:0005504 "ICD10CM:A36.9" MONDO:0005504 "GARD:0001875" +MONDO:0005504 "ICD10CM:A36.1" +MONDO:0005504 "ICD10CM:A36.2" +MONDO:0005504 "UMLS:C0012546" +MONDO:0005504 "ICD9:032" +MONDO:0005504 "ICD10CM:A36.8" +MONDO:0005504 "ICD10CM:A36.0" +MONDO:0005504 "NCIT:C34541" +MONDO:0005504 "DOID:11405" MONDO:0005504 "ICD9:032.9" -MONDO:0005504 "ICD10:A36.1" -MONDO:0005504 "MESH:D004165" -MONDO:0005504 "ICD10:A36.3" MONDO:0005504 "SCTID:397428000" -MONDO:0005504 "Orphanet:1679" -MONDO:0005504 "ICD10:A36.8" -MONDO:0005504 "ICD10:A36" -MONDO:0005504 "UMLS:C0012546" +MONDO:0005504 "EFO:0005549" MONDO:0007704 "OMIM:140600" NCBITaxon:9895 "GC_ID:1" MONDO:0012543 "MESH:C537126" @@ -91603,7 +89343,7 @@ MONDO:0001975 "SCTID:254998002" MONDO:0001975 "DOID:14463" MONDO:0001975 "ICD9:228.09" MONDO:0007878 "GARD:0006865" -MONDO:0007878 "ICD10:Q31.5" +MONDO:0007878 "ICD10CM:Q31.5" MONDO:0007878 "OMIM:150280" MONDO:0007878 "ICD9:748.3" MONDO:0007878 "SCTID:253737007" @@ -91614,32 +89354,32 @@ MONDO:0007878 "NCIT:C98971" MONDO:0007080 "NCIT:C123248" MONDO:0007080 "Orphanet:403" MONDO:0007080 "GARD:0002790" +MONDO:0007080 "ICD10CM:E26.02" MONDO:0007080 "ICD9:255.11" -MONDO:0007080 "ICD10:E26.02" MONDO:0007080 "UMLS:C3838731" +MONDO:0007080 "ICD10CM:E26.0" MONDO:0007080 "MESH:C563177" MONDO:0007080 "DOID:14080" -MONDO:0007080 "ICD10:E26.0" MONDO:0007080 "OMIM:103900" MONDO:0007080 "UMLS:C1260386" +MONDO:0021461 "ICD10CM:D10.7" MONDO:0021461 "NCIT:C3596" MONDO:0021461 "SCTID:92139000" MONDO:0021461 "ICD9:210.8" -MONDO:0021461 "ICD10:D10.7" MONDO:0021461 "UMLS:C0153939" +MONDO:0016425 "ICD10CM:I28.8" MONDO:0016425 "Orphanet:228116" MONDO:0016425 "SCTID:721226005" -MONDO:0016425 "ICD10:I28.8" MONDO:0016425 "UMLS:CN201382" MONDO:0007058 "Orphanet:957" +MONDO:0007058 "ICD10CM:Q74.8" MONDO:0007058 "GARD:0000512" MONDO:0007058 "SCTID:720457000" -MONDO:0007058 "ICD10:Q74.8" MONDO:0007058 "OMIM:102510" MONDO:0007058 "MESH:C566319" MONDO:0007058 "UMLS:C1863307" -MONDO:0010199 "ICD10:Q87.8" MONDO:0010199 "Orphanet:2475" +MONDO:0010199 "ICD10CM:Q87.8" MONDO:0010199 "UMLS:C1848463" MONDO:0010199 "GARD:0010081" MONDO:0010199 "SCTID:763619009" @@ -91660,23 +89400,23 @@ MONDO:0002696 "UMLS:C0036769" MONDO:0019801 "UMLS:C0151467" MONDO:0019801 "SCTID:24867002" MONDO:0019801 "NCIT:C112840" -MONDO:0019801 "ICD10:E27.2" MONDO:0019801 "ICD9:255.41" MONDO:0019801 "Orphanet:95409" +MONDO:0019801 "ICD10CM:E27.2" MONDO:0022694 "GARD:0001202" -MONDO:0014097 "ICD10:Q43.8" MONDO:0014097 "SCTID:715201005" +MONDO:0014097 "ICD10CM:Q43.8" MONDO:0014097 "OMIM:300048" MONDO:0014097 "Orphanet:2301" MONDO:0014097 "OMIM:615237" MONDO:0011141 "OMIM:601775" MONDO:0011141 "UMLS:C2749656" MONDO:0010585 "SCTID:239007005" -MONDO:0010585 "ICD10:Q82.4" MONDO:0010585 "Orphanet:238468" MONDO:0010585 "GARD:0010427" MONDO:0010585 "OMIM:305100" MONDO:0010585 "Orphanet:181" +MONDO:0010585 "ICD10CM:Q82.4" MONDO:0008160 "OMIM:166740" MONDO:0008160 "MESH:C563483" MONDO:0008160 "UMLS:C1833697" @@ -91691,26 +89431,24 @@ MONDO:0011531 "DOID:0060580" MONDO:0011531 "Orphanet:648" MONDO:0011531 "OMIM:605275" MONDO:0011531 "GARD:0010698" +NCBITaxon:103828 "GC_ID:1" MONDO:0012614 "MESH:C567017" MONDO:0012614 "UMLS:C1970198" MONDO:0012614 "OMIM:611092" -NCBITaxon:103828 "GC_ID:1" +MONDO:0054582 "OMIM:617466" MONDO:0007925 "OMIM:153550" MONDO:0007925 "GARD:0008723" MONDO:0007925 "ICDO:9986/3" MONDO:0007925 "UMLS:CN206233" MONDO:0007925 "MESH:C535323" MONDO:0007925 "SCTID:277597005" -MONDO:0007925 "ICD10:D46.7" MONDO:0007925 "NCIT:C6867" MONDO:0007925 "Orphanet:86841" MONDO:0007925 "DOID:0090016" -MONDO:0054582 "OMIM:617466" MONDO:0017866 "Orphanet:3190" MONDO:0017866 "SCTID:448476001" MONDO:0017866 "UMLS:C3165028" MONDO:0017866 "GARD:0005051" -MONDO:0017866 "ICD10:Q24.3" MONDO:0007373 "MESH:C565157" MONDO:0007373 "OMIM:121450" MONDO:0007373 "UMLS:C1852556" @@ -91719,27 +89457,22 @@ MONDO:0004987 "UMLS:C0005695" MONDO:0004987 "SCTID:126885006" MONDO:0004987 "EFO:0000294" MONDO:0004987 "NCIT:C2901" -MONDO:0019027 "ICD10:Q87.0" MONDO:0019027 "Orphanet:669" MONDO:0019027 "OMIM:311300" MONDO:0019027 "SCTID:767130007" +MONDO:0019027 "ICD10CM:Q87.0" MONDO:0019027 "UMLS:CN205496" MONDO:0019027 "OMIM:304120" MONDO:0019027 "GARD:0007293" MONDO:0005933 "MESH:D018202" -MONDO:0005933 "ICD10:C34.9" MONDO:0005933 "ICD9:162.9" -MONDO:0005933 "ICD10:C34.8" MONDO:0005933 "NCIT:C3732" MONDO:0005933 "UMLS:C0206629" MONDO:0005933 "ICDO:8972/3" MONDO:0005933 "EFO:0007458" MONDO:0005933 "DOID:4765" MONDO:0005933 "Orphanet:64741" -MONDO:0005933 "ICD10:C34.2" -MONDO:0005933 "ICD10:C34.3" MONDO:0005933 "SCTID:189815007" -MONDO:0005933 "ICD10:C34.1" MONDO:0021682 "UMLS:C0036918" MONDO:0021682 "MESH:D015229" CL:1001608 "CALOHA:TS-0384" @@ -91772,15 +89505,15 @@ HP:0007663 "UMLS:C0234632" MONDO:0018470 "HP:0000104" MONDO:0018470 "GARD:0009228" MONDO:0018470 "DOID:14766" -MONDO:0018470 "ICD10:Q60.1" MONDO:0018470 "HP:0008678" -MONDO:0018470 "ICD10:Q60.2" -MONDO:0018470 "ICD10:Q60.0" MONDO:0018470 "OMIM:191830" MONDO:0018470 "OMIM:615721" +MONDO:0018470 "ICD10CM:Q60.1" +MONDO:0018470 "ICD10CM:Q60.2" MONDO:0018470 "OMIMPS:191830" MONDO:0018470 "Orphanet:411709" MONDO:0018470 "SCTID:204942005" +MONDO:0018470 "ICD10CM:Q60.0" MONDO:0018470 "NCIT:C99041" MONDO:0005591 "ICD9:521.06" MONDO:0005591 "EFO:0006338" @@ -91789,8 +89522,8 @@ MONDO:0007791 "SCTID:704166007" MONDO:0007791 "GARD:0002796" MONDO:0007791 "UMLS:C0342637" MONDO:0007791 "Orphanet:405" +MONDO:0007791 "ICD10CM:E83.5" MONDO:0007791 "DOID:0060700" -MONDO:0007791 "ICD10:E83.5" MONDO:0007791 "MESH:C537145" MONDO:0007791 "UMLS:C1809471" MONDO:0007791 "Orphanet:93372" @@ -91799,8 +89532,8 @@ MONDO:0033310 "OMIM:617761" MONDO:0033310 "DOID:0080277" MONDO:0033310 "Orphanet:475" MONDO:0015130 "Orphanet:101963" +MONDO:0019417 "ICD10CM:Q87.8" MONDO:0019417 "Orphanet:85318" -MONDO:0019417 "ICD10:Q87.8" MONDO:0019417 "UMLS:CN227629" MONDO:0030333 "OMIM:619437" MONDO:0014787 "UMLS:C4225193" @@ -91812,9 +89545,7 @@ MONDO:0004126 "UMLS:C0040147" MONDO:0004126 "ICD9:245" MONDO:0004126 "NCIT:C26894" MONDO:0004126 "MESH:D013966" -MONDO:0004126 "ICD10:E06" MONDO:0004126 "SCTID:82119001" -MONDO:0004126 "ICD10:E06.9" MONDO:0004126 "ICD9:245.9" MONDO:0004126 "DOID:7166" MONDO:0005200 "UMLS:C0264797" @@ -91833,8 +89564,8 @@ MONDO:0013693 "Orphanet:294023" MONDO:0004462 "UMLS:C1333504" MONDO:0004462 "DOID:8105" MONDO:0004462 "NCIT:C5851" -MONDO:0002128 "ICD10:G58.7" MONDO:0002128 "UMLS:C0151295" +MONDO:0002128 "ICD10CM:G58.7" MONDO:0002128 "NCIT:C70938" MONDO:0002128 "ICD9:354.5" MONDO:0002128 "SCTID:30292005" @@ -91849,13 +89580,13 @@ MONDO:0005699 "NCIT:C34351" MONDO:0005699 "MESH:D000197" MONDO:0005699 "UMLS:C0001264" MONDO:0005699 "EFO:0007203" -MONDO:0005699 "ICD10:A42.2" +MONDO:0005699 "ICD10CM:A42.2" MONDO:0005699 "SCTID:23014006" MONDO:0024326 "NCIT:C4499" MONDO:0009150 "GARD:0002049" MONDO:0009150 "SCTID:239050000" +MONDO:0009150 "ICD10CM:Q82.4" MONDO:0009150 "MESH:C565604" -MONDO:0009150 "ICD10:Q82.4" MONDO:0009150 "OMIM:225050" MONDO:0009150 "Orphanet:1882" MONDO:0003265 "ICD9:309.89" @@ -91863,6 +89594,7 @@ MONDO:0003265 "SCTID:17226007" MONDO:0003265 "ICD9:309.9" MONDO:0003265 "NCIT:C92191" MONDO:0003265 "DOID:507" +MONDO:0003265 "ICD10CM:F90-98" MONDO:0003265 "ICD9:309" MONDO:0003265 "MESH:D000275" MONDO:0030973 "OMIM:619223" @@ -91881,11 +89613,8 @@ MONDO:0007152 "OMIM:107970" MONDO:0007152 "DOID:0110070" MONDO:0007152 "UMLS:C1862511" MONDO:0007152 "Orphanet:217656" -MONDO:0007152 "ICD10:I42.8" MONDO:0007152 "Orphanet:3403" -MONDO:0007152 "ICD10:Q24.8" MONDO:0004766 "NCIT:C122577" -MONDO:0004766 "ICD10:J46" MONDO:0004766 "DOID:9362" MONDO:0004766 "EFO:0008590" MONDO:0004766 "SCTID:708090002" @@ -91897,7 +89626,6 @@ MONDO:0001116 "UMLS:C0025469" MONDO:0001116 "SCTID:44897000" MONDO:0001116 "ICD9:289.2" MONDO:0001116 "NCIT:C26830" -MONDO:0001116 "ICD10:I88.0" MONDO:0001116 "DOID:10782" MONDO:0021114 "NCIT:C6434" MONDO:0033480 "OMIM:617769" @@ -91906,7 +89634,7 @@ MONDO:0033480 "DOID:0080287" MONDO:0033480 "UMLS:CN623017" MONDO:0016070 "OMIM:611010" MONDO:0016070 "OMIMPS:135300" -MONDO:0016070 "ICD10:K06.1" +MONDO:0016070 "ICD10CM:K06.1" MONDO:0016070 "OMIM:135300" MONDO:0016070 "SCTID:109620006" MONDO:0016070 "Orphanet:2024" @@ -91918,7 +89646,6 @@ MONDO:0019587 "Orphanet:90635" MONDO:0019587 "OMIM:600652" MONDO:0019587 "OMIM:606705" MONDO:0019587 "OMIM:601317" -MONDO:0019587 "ICD10:H90.3" MONDO:0019587 "OMIM:616968" MONDO:0019587 "OMIM:606282" MONDO:0019587 "OMIM:615649" @@ -91940,6 +89667,7 @@ MONDO:0019587 "OMIM:614614" MONDO:0019587 "OMIM:609129" MONDO:0019587 "OMIM:616969" MONDO:0019587 "OMIM:606451" +MONDO:0019587 "ICD10CM:H90.3" MONDO:0019587 "OMIM:601544" MONDO:0019587 "OMIM:607683" MONDO:0019587 "OMIM:616044" @@ -91986,28 +89714,27 @@ MONDO:0015687 "MedDRA:10065854" MONDO:0015687 "UMLS:C0346421" MONDO:0015687 "Orphanet:168940" MONDO:0015687 "DOID:0080367" -MONDO:0015687 "ICD10:D47.5" MONDO:0015687 "MESH:C580364" NCBITaxon:520 "GC_ID:11" NCBITaxon:520 "PMID:8240949" +MONDO:0009267 "ICD10CM:E75.2" MONDO:0009267 "Orphanet:355" MONDO:0009267 "DOID:0110959" MONDO:0009267 "Orphanet:77261" MONDO:0009267 "GARD:0002443" -MONDO:0009267 "ICD10:E75.2" MONDO:0009267 "OMIM:231000" MONDO:0009267 "SCTID:5963005" CL:0000242 "FMA:70548" MONDO:0018776 "Orphanet:476116" -MONDO:0009657 "Orphanet:79271" -MONDO:0009657 "OMIM:252930" -MONDO:0009657 "Orphanet:581" MONDO:0009657 "NCIT:C84899" -MONDO:0009657 "SCTID:75238000" -MONDO:0009657 "ICD10:E76.2" MONDO:0009657 "UMLS:C0086649" -MONDO:0009657 "DOID:0111393" +MONDO:0009657 "SCTID:75238000" +MONDO:0009657 "ICD10CM:E76.2" MONDO:0009657 "GARD:0007073" +MONDO:0009657 "OMIM:252930" +MONDO:0009657 "DOID:0111393" +MONDO:0009657 "Orphanet:581" +MONDO:0009657 "Orphanet:79271" MONDO:0007223 "MESH:C566194" MONDO:0007223 "Orphanet:93387" MONDO:0007223 "DOID:0110972" @@ -92016,7 +89743,7 @@ MONDO:0010364 "OMIM:300578" MONDO:0010364 "SCTID:719808002" MONDO:0010364 "Orphanet:85332" MONDO:0010364 "UMLS:C0795873" -MONDO:0010364 "ICD10:H35.5" +MONDO:0010364 "ICD10CM:H35.5" MONDO:0010364 "GARD:0008360" MONDO:0020977 "ICD9:601.8" MONDO:0020977 "NCIT:C26789" @@ -92032,13 +89759,12 @@ MONDO:0014262 "DOID:0070236" MONDO:0021097 "SCTID:254848002" MONDO:0021097 "SCTID:99571000119102" MONDO:0021097 "DOID:1626" -MONDO:0021097 "EFO:1000306" MONDO:0021097 "NCIT:C3863" +MONDO:0021097 "EFO:1000306" MONDO:0010622 "Orphanet:281090" MONDO:0010622 "OMIM:308100" MONDO:0010622 "GARD:0007904" MONDO:0010622 "OMIM:300001" -MONDO:0010622 "ICD10:Q80.1" MONDO:0010622 "DOID:1700" MONDO:0010622 "MedDRA:10048063" MONDO:0010622 "SCTID:3944006" @@ -92047,8 +89773,8 @@ MONDO:0010622 "NCIT:C84779" MONDO:0010622 "UMLS:C0079588" MONDO:0016291 "UMLS:CN226893" MONDO:0016291 "Orphanet:2145" +MONDO:0016291 "ICD10CM:Q75.0" MONDO:0016291 "GARD:0002671" -MONDO:0016291 "ICD10:Q75.0" NCBITaxon:5690 "GC_ID:1" MONDO:0008255 "UMLS:C1868256" MONDO:0008255 "MESH:C566798" @@ -92058,28 +89784,28 @@ CL:0000125 "BTO:0002606" CL:0000125 "CALOHA:TS-0415" MONDO:0008898 "OMIM:211910" MONDO:0008898 "UMLS:C1859359" -MONDO:0008898 "ICD10:Q87.1" MONDO:0008898 "MESH:C537970" MONDO:0008898 "GARD:0001067" MONDO:0008898 "Orphanet:1327" +MONDO:0008898 "ICD10CM:Q87.1" MONDO:0008898 "SCTID:720602007" -MONDO:0018320 "ICD10:Q87.8" +MONDO:0018320 "ICD10CM:Q87.8" MONDO:0018320 "OMIM:616817" MONDO:0018320 "OMIM:616033" MONDO:0018320 "Orphanet:391408" MONDO:0018320 "UMLS:CN204971" MONDO:0012803 "MESH:C562603" MONDO:0012803 "UMLS:C0268187" -MONDO:0012803 "ICD10:E74.3" MONDO:0012803 "SCTID:84193000" MONDO:0012803 "Orphanet:103909" +MONDO:0012803 "ICD10CM:E74.3" MONDO:0012803 "GARD:0010372" MONDO:0012803 "OMIM:612119" MONDO:0012803 "ICD9:271.8" -MONDO:0007410 "ICD10:Q11.2" MONDO:0007410 "MESH:C565138" MONDO:0007410 "Orphanet:91396" MONDO:0007410 "OMIM:123570" +MONDO:0007410 "ICD10CM:Q11.2" MONDO:0007410 "SCTID:718691008" MONDO:0007410 "DOID:0111717" MONDO:0007410 "UMLS:C1852453" @@ -92098,21 +89824,17 @@ MONDO:0042603 "UMLS:C2931450" MONDO:0042603 "MESH:C537232" MONDO:0042603 "GARD:0000153" MONDO:0023137 "GARD:0002280" -NCBITaxon:121226 "PMID:18434207" -NCBITaxon:121226 "GC_ID:1" -NCBITaxon:121226 "PMID:23049889" -NCBITaxon:119088 "GC_ID:1" MONDO:0005569 "SCTID:50927007" MONDO:0005569 "EFO:0005802" MONDO:0005569 "DOID:1222" MONDO:0005569 "ICD9:733.99" -MONDO:0005569 "ICD10:M91-M94" MONDO:0005569 "MESH:D002357" MONDO:0005569 "UMLS:C0007302" -MONDO:0005569 "ICD10:M94.9" +NCBITaxon:121226 "PMID:18434207" +NCBITaxon:121226 "GC_ID:1" +NCBITaxon:121226 "PMID:23049889" +NCBITaxon:119088 "GC_ID:1" MONDO:0011908 "OMIM:607785" -MONDO:0011908 "ICD10:C93.30" -MONDO:0011908 "ICD10:C93.3" MONDO:0011908 "SCTID:445227008" MONDO:0011908 "NCIT:C9233" MONDO:0011908 "UMLS:C0349639" @@ -92126,11 +89848,9 @@ MONDO:0011908 "DOID:0050458" MONDO:0011908 "GARD:0009884" MONDO:0011908 "ONCOTREE:JMML" MONDO:0006515 "Wikipedia:Acute_pancreatitis" -MONDO:0006515 "ICD10:K85.9" MONDO:0006515 "EFO:1000652" MONDO:0006515 "UMLS:C0267941" MONDO:0006515 "MESH:D019283" -MONDO:0006515 "ICD10:K85" MONDO:0006515 "ICD9:577.0" MONDO:0006515 "SCTID:7881005" MONDO:0006515 "HP:0001735" @@ -92144,23 +89864,23 @@ MONDO:0004241 "NCIT:C34874" MONDO:0004241 "MESH:D055034" MONDO:0004241 "ICD9:736.89" MONDO:0004241 "SCTID:72047008" -MONDO:0004241 "ICD10:M93.2" MONDO:0004241 "MedDRA:10031130" MONDO:0004241 "DOID:7489" MONDO:0004241 "Orphanet:97335" MONDO:0004241 "SCTID:430506003" -MONDO:0013125 "ICD10:Q87.3" +MONDO:0004241 "ICD10CM:M93.2" MONDO:0013125 "MESH:C567763" MONDO:0013125 "Orphanet:168984" MONDO:0013125 "UMLS:C2751313" MONDO:0013125 "OMIM:613089" +MONDO:0013125 "ICD10CM:Q87.3" MONDO:0013125 "SCTID:717765001" MONDO:0014683 "DOID:0111232" MONDO:0014683 "UMLS:C4225291" MONDO:0014683 "Orphanet:899" MONDO:0014683 "OMIM:616538" MONDO:0014683 "Orphanet:370997" -MONDO:0005452 "ICD10:F50.2" +MONDO:0005452 "ICD10CM:F50.2" MONDO:0005452 "MESH:D052018" MONDO:0005452 "NCIT:C97162" MONDO:0005452 "ICD9:307.51" @@ -92182,7 +89902,6 @@ MONDO:0003454 "ICD9:190.3" MONDO:0003454 "NCIT:C2961" MONDO:0003454 "SCTID:363463000" MONDO:0003454 "NCIT:C3564" -MONDO:0003454 "ICD10:C69.0" NCBITaxon:7088 "GC_ID:1" MONDO:0015108 "Orphanet:101685" MONDO:0015108 "GARD:0012633" @@ -92191,7 +89910,10 @@ MONDO:0000270 "ICD9:478.19" MONDO:0000270 "DOID:0050161" MONDO:0000270 "UMLS:C1290325" MONDO:0000270 "SCTID:128272009" +MONDO:0000270 "ICD10CM:J85-J86" MONDO:0000270 "ICD9:478.1" +MONDO:0000270 "ICD10CM:J40-J47" +MONDO:0000270 "ICD10CM:J20-J22" MONDO:0007917 "UMLS:C1835272" MONDO:0007917 "Orphanet:86914" MONDO:0007917 "GARD:0009217" @@ -92200,23 +89922,23 @@ MONDO:0007917 "MESH:C563612" MONDO:0032572 "OMIM:618164" MONDO:0006830 "UMLS:C0022782" MONDO:0006830 "DOID:8738" +MONDO:0006830 "ICD10CM:N48.0" MONDO:0006830 "SCTID:3323003" MONDO:0006830 "NCIT:C3151" MONDO:0006830 "ICD9:607.0" -MONDO:0006830 "ICD10:N48.0" MONDO:0006830 "EFO:1001015" MONDO:0006830 "MedDRA:10024394" MONDO:0012113 "OMIM:608762" MONDO:0012113 "DOID:0111318" +MONDO:0020526 "UMLS:CN207426" +MONDO:0020526 "ICD10CM:C94.2" +MONDO:0020526 "Orphanet:99887" MONDO:0014566 "OMIM:616280" MONDO:0014566 "SCTID:765046002" MONDO:0014566 "UMLS:C4084821" MONDO:0014566 "DOID:0110173" MONDO:0014566 "Orphanet:397735" -MONDO:0014566 "ICD10:G60.0" -MONDO:0020526 "UMLS:CN207426" -MONDO:0020526 "Orphanet:99887" -MONDO:0020526 "ICD10:C94.2" +MONDO:0014566 "ICD10CM:G60.0" MONDO:0001086 "ICD9:377.15" MONDO:0001086 "SCTID:111527005" MONDO:0001086 "DOID:10631" @@ -92230,17 +89952,15 @@ MONDO:0000209 "OMIMPS:616866" MONDO:0000209 "UMLS:CN238807" HP:0001804 "UMLS:C1856786" MONDO:0001672 "SCTID:363493006" -MONDO:0001672 "ICD10:C34" MONDO:0001672 "ICD9:162.8" MONDO:0001672 "DOID:1325" MONDO:0001672 "ICD9:162.9" -MONDO:0001672 "ICD10:C34.9" MONDO:0003872 "DOID:6405" MONDO:0003872 "UMLS:C1335175" MONDO:0003872 "NCIT:C7278" MONDO:0008945 "DOID:12707" MONDO:0008945 "SCTID:73495003" -MONDO:0008945 "ICD10:G11.1" +MONDO:0008945 "ICD10CM:G11.1" MONDO:0008945 "EFO:1001053" MONDO:0008945 "UMLS:C0007761" MONDO:0008945 "OMIM:213400" @@ -92248,7 +89968,6 @@ MONDO:0008945 "MESH:D002527" MONDO:0007002 "MESH:D020432" MONDO:0007002 "NCIT:C78395" MONDO:0007002 "EFO:1001220" -MONDO:0007002 "ICD10:H49.1" MONDO:0007002 "DOID:13864" MONDO:0007002 "MedDRA:10074765" MONDO:0007002 "ICD9:378.53" @@ -92259,27 +89978,26 @@ MONDO:0011354 "GARD:0008567" MONDO:0013554 "OMIM:614070" MONDO:0013554 "DOID:0111287" MONDO:0020409 "Orphanet:99069" -MONDO:0020409 "ICD10:Q20.4" +MONDO:0020409 "ICD10CM:Q20.4" MONDO:0001273 "ICD9:564.7" MONDO:0001273 "SCTID:33995003" MONDO:0001273 "NCIT:C34810" MONDO:0001273 "DOID:11372" -MONDO:0001273 "ICD10:K59.3" MONDO:0001273 "MESH:D008531" MONDO:0012805 "Orphanet:98811" MONDO:0012805 "MESH:C564288" MONDO:0012805 "DOID:0090045" MONDO:0012805 "GARD:0010541" MONDO:0012805 "OMIM:612126" -MONDO:0012805 "ICD10:G24.8" MONDO:0012805 "SCTID:724072002" +MONDO:0012805 "ICD10CM:G24.8" MONDO:0012805 "UMLS:C1842534" MONDO:0015631 "SCTID:359732009" MONDO:0015631 "OMIM:613554" MONDO:0015631 "UMLS:C1282975" MONDO:0015631 "Orphanet:166093" MONDO:0015631 "NCIT:C131689" -MONDO:0015631 "ICD10:D68.0" +MONDO:0015631 "ICD10CM:D68.0" NCBITaxon:2093 "PMID:15176735" NCBITaxon:2093 "PMID:11931184" NCBITaxon:2093 "PMID:8863441" @@ -92296,19 +90014,19 @@ HP:0004326 "MSH:D002100" HP:0004326 "UMLS:C0006625" HP:0004326 "SNOMEDCT_US:238108007" HP:0004326 "SNOMEDCT_US:285384003" +MONDO:0010437 "ICD10CM:G31.8" MONDO:0010437 "DOID:0111502" MONDO:0010437 "OMIM:300816" MONDO:0010437 "SCTID:722212004" -MONDO:0010437 "ICD10:G31.8" MONDO:0010437 "UMLS:C3151753" MONDO:0010437 "UMLS:C4302745" MONDO:0010437 "Orphanet:238329" MONDO:0017153 "ICD9:416.8" MONDO:0017153 "Orphanet:275808" -MONDO:0017153 "ICD10:I27.2" MONDO:0017153 "EFO:0009194" MONDO:0017153 "SCTID:697904001" MONDO:0017153 "UMLS:C3697673" +MONDO:0017153 "ICD10CM:I27.2" MONDO:0005044 "MESH:D006973" MONDO:0005044 "UMLS:C0020538" MONDO:0005044 "ICD9:401-405.99" @@ -92316,30 +90034,29 @@ MONDO:0005044 "DOID:10763" MONDO:0005044 "HP:0000822" MONDO:0005044 "NCIT:C3117" MONDO:0005044 "EFO:0000537" +MONDO:0005044 "ICD10CM:I15" MONDO:0005044 "ICD9:997.91" MONDO:0005044 "SCTID:38341003" -MONDO:0005044 "ICD10:I15" -MONDO:0005044 "ICD10:I10" -MONDO:0005044 "ICD10:I10-I15" +MONDO:0005044 "ICD10CM:I10-I16" MONDO:0005044 "OMIM:145500" -MONDO:0017810 "ICD10:E85.1" MONDO:0017810 "UMLS:CN203779" MONDO:0017810 "Orphanet:314652" MONDO:0017810 "SCTID:722292000" MONDO:0017810 "UMLS:C4302669" +MONDO:0017810 "ICD10CM:E85.1" MONDO:0012795 "OMIM:612089" MONDO:0012795 "MESH:C567423" MONDO:0012795 "UMLS:C2677524" -MONDO:0020103 "ICD10:E78.6" +MONDO:0020103 "ICD10CM:E78.6" MONDO:0020103 "Orphanet:98366" MONDO:0010214 "Orphanet:910" MONDO:0010214 "NCIT:C141367" MONDO:0010214 "OMIM:278750" +MONDO:0010214 "ICD10CM:Q82.1" MONDO:0010214 "DOID:0110847" MONDO:0010214 "Orphanet:90342" MONDO:0010214 "MESH:C536766" MONDO:0010214 "GARD:0005630" -MONDO:0010214 "ICD10:Q82.1" MONDO:0010214 "UMLS:C1848410" HP:0002536 "UMLS:C1856019" MONDO:0044787 "NCIT:C68611" @@ -92347,7 +90064,7 @@ MONDO:0044787 "UMLS:C0280332" MONDO:0030492 "OMIM:619645" MONDO:0019752 "Orphanet:93682" MONDO:0019752 "UMLS:CN206684" -MONDO:0019752 "ICD10:D36.0" +MONDO:0019752 "ICD10CM:D36.0" MONDO:0018555 "OMIMPS:147950" MONDO:0018555 "OMIM:612370" MONDO:0018555 "Orphanet:478" @@ -92365,6 +90082,7 @@ MONDO:0018555 "OMIM:146110" MONDO:0018555 "OMIM:610628" MONDO:0018555 "OMIM:614880" MONDO:0018555 "OMIM:308700" +MONDO:0018555 "ICD10CM:E23.0" MONDO:0018555 "Orphanet:432" MONDO:0018555 "OMIM:614858" MONDO:0018555 "UMLS:CN235466" @@ -92373,7 +90091,6 @@ MONDO:0018555 "OMIM:614838" MONDO:0018555 "HP:0000044" MONDO:0018555 "OMIM:612702" MONDO:0018555 "OMIM:614842" -MONDO:0018555 "ICD10:E23.0" MONDO:0018555 "OMIM:614840" MONDO:0018555 "OMIM:147950" MONDO:0018555 "OMIM:244200" @@ -92384,9 +90101,7 @@ MONDO:0006446 "UMLS:C0238448" MONDO:0006446 "DOID:5680" MONDO:0016141 "Orphanet:207060" MONDO:0005231 "ICD9:070.54" -MONDO:0005231 "ICD10:B19.2" MONDO:0005231 "UMLS:C0019196" -MONDO:0005231 "ICD10:B19.20" MONDO:0005231 "DOID:1883" MONDO:0005231 "ICD9:070.7" MONDO:0005231 "SCTID:128302006" @@ -92408,8 +90123,8 @@ MONDO:0009822 "Orphanet:2793" MONDO:0009822 "GARD:0004170" MONDO:0009822 "OMIM:259780" MONDO:0009822 "SCTID:441944007" -MONDO:0009822 "ICD10:Q87.5" MONDO:0009822 "ICD9:759.89" +MONDO:0009822 "ICD10CM:Q87.5" MONDO:0014041 "OMIM:615091" MONDO:0002722 "ICD9:239.7" MONDO:0002722 "SCTID:126967000" @@ -92420,13 +90135,9 @@ MONDO:0002722 "NCIT:C5121" NCBITaxon:43735 "GC_ID:1" NCBITaxon:1773 "GC_ID:11" NCBITaxon:1773 "PMID:29205127" -MONDO:0017543 "ICD10:Q70.2" -MONDO:0017543 "ICD10:Q70.1" -MONDO:0017543 "ICD10:Q70.0" MONDO:0017543 "Orphanet:295189" -MONDO:0017543 "ICD10:Q70.3" MONDO:0017543 "UMLS:CN203275" -MONDO:0015382 "ICD10:Q38.0" +MONDO:0015382 "ICD10CM:Q38.0" MONDO:0015382 "Orphanet:141064" MONDO:0007887 "UMLS:C1835488" MONDO:0007887 "Orphanet:1018" @@ -92452,13 +90163,12 @@ MONDO:0019973 "UMLS:C4304823" MONDO:0019973 "SCTID:719297006" MONDO:0008420 "SCTID:394727000" MONDO:0008420 "GARD:0003108" -MONDO:0008420 "Wikipedia:Seborrheic_keratosis" MONDO:0008420 "OMIM:182000" -MONDO:0008420 "ICD10:L82" +MONDO:0008420 "Wikipedia:Seborrheic_keratosis" MONDO:0008420 "DOID:6498" MONDO:0008420 "NCIT:C9006" MONDO:0008420 "MESH:D017492" -MONDO:0008420 "ICD10:L82.1" +MONDO:0008420 "ICD10CM:L82" MONDO:0008420 "EFO:0005584" MONDO:0008420 "ICD9:702.1" MONDO:0008420 "UMLS:C0022603" @@ -92467,7 +90177,6 @@ MONDO:0044811 "ICD9:333.6" MONDO:0044811 "NCIT:C34564" MONDO:0012083 "DOID:0110557" MONDO:0012083 "MESH:C563890" -MONDO:0012083 "ICD10:H90.3" MONDO:0012083 "Orphanet:90635" MONDO:0012083 "OMIM:608641" MONDO:0012083 "UMLS:C1837640" @@ -92480,7 +90189,6 @@ MONDO:0002076 "DOID:1673" MONDO:0002076 "MESH:D011030" MONDO:0002076 "HP:0002107" MONDO:0002076 "NCIT:C38006" -MONDO:0002076 "ICD10:J93.1" MONDO:0002076 "ICD9:512.8" HP:0001321 "MSH:C562568" HP:0001321 "UMLS:C0266470" @@ -92502,15 +90210,12 @@ MONDO:0002221 "UMLS:C1519826" MONDO:0001451 "SCTID:405721006" MONDO:0001451 "ICD9:362.6" MONDO:0001451 "DOID:12161" -MONDO:0001451 "ICD10:H35.40" +MONDO:0001451 "ICD10CM:H35.4" MONDO:0001451 "UMLS:C1320640" -MONDO:0001451 "ICD10:H35.4" MONDO:0001451 "ICD9:362.60" MONDO:0001451 "NCIT:C34919" MONDO:0005738 "ICD9:122.9" MONDO:0005738 "EFO:0007245" -MONDO:0005738 "ICD10:B67.90" -MONDO:0005738 "ICD10:B67" MONDO:0005738 "SCTID:74942003" MONDO:0005738 "DOID:1496" MONDO:0005738 "UMLS:C0013502" @@ -92532,20 +90237,19 @@ MONDO:0016784 "ONCOTREE:GTD" MONDO:0016784 "Orphanet:254685" MONDO:0016784 "ICD9:631" CL:0002265 "FMA:268744" -MONDO:0017426 "ICD10:Q69.0" +MONDO:0017426 "ICD10CM:Q69.0" MONDO:0017426 "GARD:0012460" MONDO:0017426 "SCTID:205131007" MONDO:0017426 "Orphanet:294942" MONDO:0018984 "SCTID:240453002" MONDO:0018984 "Orphanet:64692" -MONDO:0018984 "ICD10:A44.0" MONDO:0018984 "NCIT:C128441" MONDO:0018984 "DOID:0050398" MONDO:0018984 "MESH:D001474" MONDO:0018984 "UMLS:CN205422" MONDO:0018984 "SCTID:262461007" MONDO:0018984 "UMLS:C0029307" -MONDO:0018613 "ICD10:E85.9" +MONDO:0018613 "ICD10CM:E85.9" MONDO:0018613 "Orphanet:442582" MONDO:0012387 "Orphanet:75325" MONDO:0012387 "GARD:0009904" @@ -92558,13 +90262,13 @@ MONDO:0007919 "GARD:0007220" MONDO:0007919 "DOID:0070210" MONDO:0007919 "OMIM:153100" MONDO:0000951 "NCIT:C6451" -MONDO:0000951 "UMLS:C1336745" MONDO:0000951 "DOID:10146" +MONDO:0000951 "UMLS:C1336745" MONDO:0000951 "EFO:1000054" MONDO:0016621 "Orphanet:248111" MONDO:0016621 "UMLS:C0751208" -MONDO:0016621 "ICD10:G10" MONDO:0016621 "OMIM:143100" +MONDO:0016621 "ICD10CM:G10" MONDO:0016621 "NCIT:C147072" MONDO:0016621 "SCTID:230299004" MONDO:0016621 "GARD:0010510" @@ -92573,7 +90277,7 @@ MONDO:0015889 "UMLS:CN200503" MONDO:0004336 "UMLS:C0279654" MONDO:0004336 "DOID:7707" MONDO:0004336 "NCIT:C9168" -MONDO:0004979 "ICD10:J45.909" +MONDO:0004979 "ICD10CM:J45" MONDO:0004979 "ICD9:493" MONDO:0004979 "KEGG:05310" MONDO:0004979 "UMLS:C0004096" @@ -92582,7 +90286,6 @@ MONDO:0004979 "ICD9:493.81" MONDO:0004979 "SCTID:31387002" MONDO:0004979 "OMIM:600807" MONDO:0004979 "OMIM:611960" -MONDO:0004979 "ICD10:J45" MONDO:0004979 "OMIM:608584" MONDO:0004979 "EFO:0000270" MONDO:0004979 "HP:0002099" @@ -92592,22 +90295,22 @@ MONDO:0004979 "GARD:0010246" MONDO:0004979 "ICD9:493.9" MONDO:0004979 "MESH:D001249" MONDO:0004979 "NCIT:C28397" -MONDO:0004979 "ICD10:J45.90" -MONDO:0013789 "ICD10:E77.8" MONDO:0013789 "SCTID:733083006" MONDO:0013789 "DOID:0080569" MONDO:0013789 "Orphanet:300536" +MONDO:0013789 "ICD10CM:E77.8" MONDO:0013789 "GARD:0012398" MONDO:0013789 "OMIM:614507" MONDO:0013789 "UMLS:C3281084" MONDO:0020494 "Orphanet:99806" -MONDO:0020494 "ICD10:K00.2" +MONDO:0020494 "ICD10CM:K00.2" MONDO:0020494 "UMLS:C2750325" MONDO:0020494 "OMIM:166750" MONDO:0011204 "OMIM:602197" MONDO:0010626 "Orphanet:183663" MONDO:0010626 "Orphanet:101088" MONDO:0010626 "Wikidata:Q3508611" +MONDO:0010626 "ICD10CM:D80.5" MONDO:0010626 "OMIM:308230" MONDO:0010626 "DOID:6620" MONDO:0010626 "OMIM:606843" @@ -92616,7 +90319,6 @@ MONDO:0010626 "NCIT:C61244" MONDO:0010626 "SCTID:403835002" MONDO:0010626 "GARD:0000073" MONDO:0010626 "UMLS:C0398689" -MONDO:0010626 "ICD10:D80.5" MONDO:0019355 "Orphanet:829" MONDO:0019355 "SCTID:239920006" MONDO:0019355 "MedDRA:10058493" @@ -92628,21 +90330,20 @@ MONDO:0019355 "ICD9:714.2" MONDO:0019355 "MedDRA:10064056" MONDO:0019355 "UMLS:CN206037" MONDO:0019355 "EFO:0007135" -MONDO:0019355 "ICD10:M06.1" MONDO:0019355 "SCTID:68190001" MONDO:0019355 "MESH:D016706" +MONDO:0018158 "ICD10CM:G71.3" MONDO:0018158 "UMLS:CN239350" MONDO:0018158 "MedDRA:10059396" MONDO:0018158 "DOID:0070329" MONDO:0018158 "Orphanet:35698" -MONDO:0018158 "ICD10:G71.3" MONDO:0018158 "OMIMPS:603041" MONDO:0004651 "UMLS:C0037354" MONDO:0004651 "MESH:D012899" MONDO:0004651 "ICD9:050" MONDO:0004651 "GARD:0007444" MONDO:0004651 "NCIT:C35027" -MONDO:0004651 "ICD10:B03" +MONDO:0004651 "ICD10CM:B03" MONDO:0004651 "ICD9:050.9" MONDO:0004651 "SCTID:47452006" MONDO:0004651 "SCTID:67924001" @@ -92653,7 +90354,7 @@ MONDO:0006225 "NCIT:C27440" MONDO:0001880 "ICD9:750.19" MONDO:0001880 "DOID:14111" MONDO:0001880 "SCTID:7522008" -MONDO:0001880 "ICD10:K14.2" +MONDO:0001880 "ICD10CM:K14.2" MONDO:0001880 "ICD9:529.2" MONDO:0001533 "ICD9:726.61" MONDO:0001533 "DOID:12475" @@ -92665,7 +90366,6 @@ MONDO:0007783 "EFO:0009071" MONDO:0007783 "UMLS:CN031421" MONDO:0007783 "UMLS:C0024591" MONDO:0007783 "MESH:C535694" -MONDO:0007436 "ICD10:K00.5" MONDO:0007436 "Orphanet:99789" MONDO:0007436 "SCTID:109493006" MONDO:0007436 "Orphanet:314721" @@ -92675,12 +90375,13 @@ MONDO:0007436 "MESH:C531665" MONDO:0007436 "ICD9:520.5" MONDO:0007436 "UMLS:C0399379" MONDO:0007436 "OMIM:125400" +MONDO:0007436 "ICD10CM:K00.5" MONDO:0020681 "OMIM:601776" MONDO:0020681 "NCIT:C168975" MONDO:0021723 "UMLS:C2004487" MONDO:0021723 "NCIT:C78703" -MONDO:0021723 "ICD10:N94.2" MONDO:0021723 "MESH:D052065" +MONDO:0021723 "ICD10CM:N94.2" NCBITaxon:451866 "GC_ID:1" MONDO:0010813 "MESH:C538111" MONDO:0010813 "UMLS:C1838655" @@ -92691,13 +90392,13 @@ MONDO:0001947 "UMLS:C0040150" MONDO:0001947 "DOID:14350" MONDO:0001947 "NCIT:C129724" MONDO:0001947 "MESH:D013969" +MONDO:0001947 "ICD10CM:E06.0" MONDO:0001947 "SCTID:25476006" -MONDO:0001947 "ICD10:E06.0" MONDO:0004181 "UMLS:C1511283" MONDO:0004181 "NCIT:C40391" MONDO:0004181 "DOID:7312" MONDO:0016376 "Orphanet:221142" -MONDO:0016376 "ICD10:L90.8" +MONDO:0016376 "ICD10CM:L90.8" NCBITaxon:123366 "GC_ID:1" MONDO:0004267 "UMLS:C1378340" MONDO:0004267 "NCIT:C9009" @@ -92708,6 +90409,7 @@ MONDO:0006381 "UMLS:C0457529" MONDO:0006381 "EFO:1000487" MONDO:0018229 "ICD9:695.13" MONDO:0018229 "UMLS:C0014518" +MONDO:0018229 "ICD10CM:L51.1" MONDO:0018229 "MESH:D013262" MONDO:0018229 "NCIT:C79777" MONDO:0018229 "OMIM:608579" @@ -92718,17 +90420,15 @@ MONDO:0018229 "ICD9:695.12" MONDO:0018229 "EFO:0004276" MONDO:0018229 "UMLS:C0038325" MONDO:0018229 "GARD:0007700" -MONDO:0018229 "ICD10:L51.2" MONDO:0018229 "DOID:0050426" -MONDO:0018229 "ICD10:L51.1" MONDO:0018229 "ICD9:695.15" MONDO:0018229 "Orphanet:36426" MONDO:0018229 "SCTID:23067006" MONDO:0032659 "OMIM:618287" +NCBITaxon:43987 "GC_ID:1" MONDO:0014136 "UMLS:C3809198" MONDO:0014136 "Orphanet:422" MONDO:0014136 "OMIM:615344" -NCBITaxon:43987 "GC_ID:1" MONDO:0056813 "NCIT:C114932" HP:0012072 "UMLS:C0278026" HP:0012072 "SNOMEDCT_US:21806007" @@ -92740,7 +90440,7 @@ MONDO:0060456 "OMIM:302700" MONDO:0060456 "MESH:C564449" MONDO:0011198 "SCTID:719171005" MONDO:0011198 "Orphanet:93356" -MONDO:0011198 "ICD10:Q77.7" +MONDO:0011198 "ICD10CM:Q77.7" MONDO:0011198 "Orphanet:1040" MONDO:0011198 "OMIM:602111" MONDO:0011198 "DOID:0080030" @@ -92750,21 +90450,21 @@ MONDO:0001078 "UMLS:C0038054" MONDO:0001078 "GARD:0007824" MONDO:0001078 "MESH:D013182" MONDO:0001078 "SCTID:47384003" -MONDO:0001078 "ICD10:K90.1" MONDO:0001078 "ICD9:579.1" MONDO:0001078 "DOID:10607" +MONDO:0001078 "ICD10CM:K90.1" +MONDO:0019613 "ICD10CM:D35.2" MONDO:0019613 "NCIT:C4348" MONDO:0019613 "DOID:5715" MONDO:0019613 "EFO:0008516" -MONDO:0019613 "ICD10:D35.2" MONDO:0019613 "Orphanet:91349" MONDO:0019613 "SCTID:254962005" MONDO:0032774 "OMIM:618479" MONDO:0004454 "UMLS:C1516474" MONDO:0004454 "DOID:8082" MONDO:0004454 "NCIT:C39815" -MONDO:0018416 "ICD10:G11.4" MONDO:0018416 "UMLS:CN226121" +MONDO:0018416 "ICD10CM:G11.4" MONDO:0018416 "Orphanet:401795" MONDO:0009601 "UMLS:C1834821" MONDO:0009601 "OMIM:250460" @@ -92773,14 +90473,12 @@ MONDO:0009601 "GARD:0010622" MONDO:0009601 "Orphanet:1838" MONDO:0013377 "Orphanet:2542" MONDO:0013377 "OMIM:613704" -MONDO:0013377 "ICD10:Q11.0" MONDO:0013377 "UMLS:C3150969" MONDO:0013377 "DOID:0060838" MONDO:0014451 "Orphanet:656" MONDO:0014451 "OMIM:616002" MONDO:0014451 "UMLS:C4014925" MONDO:0014451 "DOID:0111132" -MONDO:0014451 "ICD10:N04.1" MONDO:0003257 "DOID:5048" MONDO:0003257 "NCIT:C7157" MONDO:0003257 "UMLS:C1334957" @@ -92790,6 +90488,7 @@ MONDO:0017615 "DOID:0060169" MONDO:0017615 "SCTID:230410004" MONDO:0017615 "OMIMPS:601764" MONDO:0017615 "OMIM:601764" +MONDO:0017615 "ICD10CM:G40.3" MONDO:0017615 "ICD9:V17.2" MONDO:0017615 "OMIM:607745" MONDO:0017615 "OMIM:612627" @@ -92797,7 +90496,6 @@ MONDO:0017615 "Orphanet:306" MONDO:0017615 "OMIM:605751" MONDO:0017615 "GARD:0000857" MONDO:0017615 "OMIM:617080" -MONDO:0017615 "ICD10:G40.3" MONDO:0017615 "UMLS:CN203492" HP:0011858 "UMLS:C4023159" MONDO:0032611 "OMIM:618228" @@ -92805,12 +90503,12 @@ MONDO:0001125 "ICD9:098.13" MONDO:0001125 "SCTID:30168008" MONDO:0001125 "UMLS:C0153193" MONDO:0001125 "DOID:10802" +MONDO:0007028 "Wikipedia:Rotator_cuff_tear" MONDO:0007028 "UMLS:C0263912" MONDO:0007028 "SCTID:4106009" MONDO:0007028 "EFO:1001250" -MONDO:0007028 "https://en.wikipedia.org/wiki/Rotator_cuff_tear" +MONDO:0007028 "ICD10CM:M75.1" MONDO:0007028 "ICD9:726.10" -MONDO:0007028 "ICD10:M75.1" MONDO:0021123 "UMLS:C1333481" MONDO:0021123 "NCIT:C35871" MONDO:0027026 "MESH:D062688" @@ -92827,7 +90525,7 @@ NCBITaxon:120793 "GC_ID:11" MONDO:0005895 "NCIT:C84995" MONDO:0005895 "UMLS:C0030424" MONDO:0005895 "SCTID:30369007" -MONDO:0005895 "ICD10:B66.4" +MONDO:0005895 "ICD10CM:B66.4" MONDO:0005895 "ICD9:121.2" MONDO:0005895 "DOID:10699" MONDO:0005895 "MESH:D010237" @@ -92839,7 +90537,7 @@ MONDO:0015657 "Orphanet:166484" MONDO:0015657 "UMLS:CN200066" MONDO:0010429 "OMIM:300802" MONDO:0010429 "UMLS:C3275408" -MONDO:0015833 "ICD10:Q51.4" +MONDO:0015833 "ICD10CM:Q51.4" MONDO:0015833 "Orphanet:180079" NCBITaxon:33154 "GC_ID:1" MONDO:0002527 "UMLS:C0022572" @@ -92850,23 +90548,22 @@ MONDO:0002527 "NCIT:C3146" MONDO:0002527 "ICDO:8071/1" MONDO:0022872 "GARD:0001543" MONDO:0018125 "Orphanet:352587" -MONDO:0018125 "ICD10:Q04.8" MONDO:0018125 "UMLS:CN204502" +MONDO:0018125 "ICD10CM:Q04.8" MONDO:0017836 "UMLS:CN203813" MONDO:0017836 "GARD:0001722" -MONDO:0017836 "ICD10:Q82.8" MONDO:0017836 "ICD9:447.8" MONDO:0017836 "Orphanet:315" +MONDO:0017836 "ICD10CM:Q82.8" MONDO:0017836 "SCTID:239062001" MONDO:0012608 "UMLS:C1970211" +MONDO:0012608 "ICD10CM:G12.2" MONDO:0012608 "Orphanet:206580" -MONDO:0012608 "ICD10:G12.2" MONDO:0012608 "OMIM:611067" MONDO:0012608 "MESH:C567023" MONDO:0012608 "DOID:0111213" -MONDO:0001312 "ICD10:H65.00" MONDO:0001312 "ICD9:381.01" -MONDO:0001312 "ICD10:H65.0" +MONDO:0001312 "ICD10CM:H65.0" MONDO:0001312 "UMLS:C0155415" MONDO:0001312 "DOID:11557" MONDO:0001312 "SCTID:194240006" @@ -92876,23 +90573,23 @@ MONDO:0007215 "UMLS:C1862151" MONDO:0007215 "GARD:0000978" MONDO:0007215 "Orphanet:93388" MONDO:0007215 "MESH:C537088" -MONDO:0007215 "ICD10:Q73.8" +MONDO:0007215 "ICD10CM:Q73.8" MONDO:0007215 "DOID:0110964" +MONDO:0007215 "OMIM:112500" MONDO:0007215 "SCTID:715720006" MONDO:0007215 "OMIM:615072" MONDO:0005903 "EFO:0007426" MONDO:0005903 "SCTID:67256000" MONDO:0005903 "ICD9:017.90" MONDO:0005903 "DOID:4962" -MONDO:0005903 "ICD10:A18.84" MONDO:0005903 "MESH:D010495" MONDO:0005903 "UMLS:C0031049" MONDO:0100104 "DOID:0111379" MONDO:0100104 "OMIM:618393" MONDO:0015187 "Orphanet:104012" -MONDO:0009595 "ICD10:Q78.8" MONDO:0009595 "OMIM:250460" MONDO:0009595 "OMIM:250250" +MONDO:0009595 "ICD10CM:Q78.8" MONDO:0009595 "NCIT:C61245" MONDO:0009595 "SCTID:7720002" MONDO:0009595 "Orphanet:175" @@ -92908,20 +90605,20 @@ MONDO:0002937 "DOID:4280" CL:1000313 "FMA:263035" MONDO:0021470 "NCIT:C4612" MONDO:0021470 "SCTID:92264007" -MONDO:0021470 "ICD10:D13.6" MONDO:0021470 "UMLS:C0347284" +MONDO:0021470 "ICD10CM:D13.6" MONDO:0003968 "NCIT:C6472" MONDO:0003968 "UMLS:C1332342" MONDO:0003968 "DOID:6697" MONDO:0017366 "GARD:0011984" +MONDO:0017366 "ICD10CM:C75.5" MONDO:0017366 "OMIM:168000" -MONDO:0017366 "ICD10:D35.0" -MONDO:0017366 "ICD10:D35.6" +MONDO:0017366 "ICD10CM:D35.6" MONDO:0017366 "OMIM:601650" -MONDO:0017366 "ICD10:C74.1" MONDO:0017366 "OMIM:614165" +MONDO:0017366 "ICD10CM:D35.0" MONDO:0017366 "OMIM:605373" -MONDO:0017366 "ICD10:C75.5" +MONDO:0017366 "ICD10CM:C74.1" MONDO:0017366 "UMLS:C1708353" MONDO:0017366 "OMIM:115310" MONDO:0017366 "OMIM:171300" @@ -92930,11 +90627,11 @@ MONDO:0002714 "NCIT:C4627" MONDO:0002714 "MESH:D016543" MONDO:0002714 "DOID:3620" MONDO:0002714 "SCTID:126951006" +MONDO:0002714 "ICD10CM:C69-C72" MONDO:0002714 "ICD9:239.7" MONDO:0002714 "EFO:0000326" -MONDO:0002714 "ICD10:C72.9" +MONDO:0018008 "ICD10CM:I40.8" MONDO:0018008 "Orphanet:329874" -MONDO:0018008 "ICD10:I40.8" MONDO:0003170 "DOID:4856" MONDO:0003170 "UMLS:C1266178" MONDO:0003170 "NCIT:C5419" @@ -92944,9 +90641,9 @@ MONDO:0004501 "UMLS:C1517111" MONDO:0004501 "NCIT:C40114" MONDO:0024912 "MESH:D002371" MONDO:0024912 "UMLS:C0007350" -MONDO:0014067 "ICD10:Q87.8" MONDO:0014067 "OMIM:615162" MONDO:0014067 "UMLS:C3554609" +MONDO:0014067 "ICD10CM:Q87.8" MONDO:0014067 "Orphanet:357175" MONDO:0033649 "OMIM:619058" MONDO:0014927 "DOID:0110996" @@ -92957,10 +90654,10 @@ MONDO:0011540 "GARD:0009867" MONDO:0011540 "UMLS:C1854369" MONDO:0011540 "MESH:C537196" MONDO:0011540 "OMIM:605361" -MONDO:0011540 "ICD10:G11.2" MONDO:0011540 "SCTID:719210007" MONDO:0011540 "UMLS:C4304883" MONDO:0011540 "DOID:0050964" +MONDO:0011540 "ICD10CM:G11.2" MONDO:0041751 "SCTID:416257001" MONDO:0000756 "DOID:0060338" MONDO:0006698 "DOID:11151" @@ -92983,86 +90680,83 @@ MONDO:0012942 "UMLS:C2675497" MONDO:0011070 "OMIM:601390" MONDO:0011070 "Orphanet:314679" MONDO:0011070 "DOID:0080585" -MONDO:0018605 "Orphanet:440701" -MONDO:0018605 "UMLS:CN237637" MONDO:0010781 "UMLS:C1838916" MONDO:0010781 "DOID:0111750" MONDO:0010781 "MESH:C564020" MONDO:0010781 "OMIM:500010" +MONDO:0018605 "Orphanet:440701" +MONDO:0018605 "UMLS:CN237637" NCBITaxon:2497570 "GC_ID:1" PO:0009087 "PO_GIT:149" PO:0009087 "PO_GIT:511" MONDO:0019050 "UMLS:C0019045" -MONDO:0019050 "ICD10:D56.3" +MONDO:0019050 "ICD10CM:D57.0" +MONDO:0019050 "ICD10CM:D58.2" +MONDO:0019050 "ICD10CM:D57.3" MONDO:0019050 "SCTID:80141007" MONDO:0019050 "NCIT:C3092" MONDO:0019050 "SCTID:427306008" +MONDO:0019050 "ICD10CM:D56.0" MONDO:0019050 "ICD9:282.7" MONDO:0019050 "MedDRA:10060892" -MONDO:0019050 "ICD10:D57.1" -MONDO:0019050 "ICD10:D58.1" -MONDO:0019050 "ICD10:D58.9" +MONDO:0019050 "ICD10CM:D56.8" +MONDO:0019050 "ICD10CM:D57.8" +MONDO:0019050 "ICD10CM:D58.8" +MONDO:0019050 "ICD10CM:D58.9" MONDO:0019050 "UMLS:C1960031" +MONDO:0019050 "ICD10CM:D57.1" +MONDO:0019050 "ICD10CM:D57.2" MONDO:0019050 "GARD:0012455" -MONDO:0019050 "ICD10:D56.2" -MONDO:0019050 "ICD10:D58.2" -MONDO:0019050 "ICD10:D56.4" -MONDO:0019050 "ICD10:D57.3" +MONDO:0019050 "ICD10CM:D58.0" +MONDO:0019050 "ICD10CM:D58.1" +MONDO:0019050 "ICD10CM:D56.2" +MONDO:0019050 "ICD10CM:D56.3" MONDO:0019050 "MESH:D006453" -MONDO:0019050 "ICD10:D56.0" -MONDO:0019050 "ICD10:D56.1" -MONDO:0019050 "ICD10:D58.0" -MONDO:0019050 "ICD10:D56.8" -MONDO:0019050 "ICD10:D56.9" -MONDO:0019050 "ICD10:D58.8" +MONDO:0019050 "ICD10CM:D56.4" MONDO:0019050 "Orphanet:68364" -MONDO:0019050 "ICD10:D57.0" -MONDO:0019050 "ICD10:D57.8" +MONDO:0019050 "ICD10CM:D56.1" MONDO:0019050 "DOID:2860" -MONDO:0019050 "ICD10:D57.2" +MONDO:0019050 "ICD10CM:D56.9" NCBITaxon:35082 "GC_ID:1" MONDO:0013321 "OMIM:613606" MONDO:0013321 "UMLS:C3150859" -MONDO:0016237 "ICD10:Q82.8" MONDO:0016237 "GARD:0001861" MONDO:0016237 "UMLS:C0474965" MONDO:0016237 "SCTID:254782003" MONDO:0016237 "Orphanet:2123" +MONDO:0016237 "ICD10CM:Q82.8" NCBITaxon:8022 "GC_ID:1" MONDO:0015436 "ICD9:758.89" +MONDO:0015436 "ICD10CM:Q93.2" MONDO:0015436 "MESH:C580424" MONDO:0015436 "GARD:0001334" MONDO:0015436 "NCIT:C169001" -MONDO:0015436 "ICD10:Q93.2" MONDO:0015436 "Orphanet:1444" MONDO:0015436 "SCTID:23686004" FOODON:03400361 "http://www.langual.org/langual_thesaurus.asp?termid=A0361" -MONDO:0016994 "ICD10:Q87.1" MONDO:0016994 "GARD:0005120" MONDO:0016994 "OMIM:210730" MONDO:0016994 "UMLS:CN202308" MONDO:0016994 "Orphanet:2636" MONDO:0016994 "SCTID:725461009" MONDO:0016994 "OMIM:210710" +MONDO:0016994 "ICD10CM:Q87.1" MONDO:0016823 "Orphanet:2583" -MONDO:0016823 "ICD10:B47.0" MONDO:0016823 "SCTID:410039003" -MONDO:0016823 "ICD10:B47.9" MONDO:0016823 "MESH:D008271" +MONDO:0016823 "ICD10CM:B47.0" +MONDO:0016823 "ICD10CM:B47" MONDO:0016823 "NCIT:C85505" +MONDO:0016823 "ICD10CM:B47.1" MONDO:0016823 "UMLS:C0024449" -MONDO:0016823 "ICD10:B47" +MONDO:0016823 "ICD10CM:B47.9" MONDO:0016823 "GARD:0003862" MONDO:0016823 "MedDRA:10028427" -MONDO:0016823 "ICD10:B47.1" CL:0000030 "FBbt:00005145" MONDO:0002306 "UMLS:C0155149" MONDO:0002306 "ICD9:372.21" -MONDO:0002306 "ICD10:H10.52" MONDO:0002306 "DOID:2455" MONDO:0002306 "SCTID:69397000" -MONDO:0060621 "UMLS:C4540493" -MONDO:0060621 "OMIM:617802" MONDO:0003864 "ICDO:9823/3" MONDO:0003864 "DOID:6354" MONDO:0003864 "NCIT:C27911" @@ -93074,6 +90768,8 @@ MONDO:0003517 "UMLS:C1368910" MONDO:0003517 "DOID:5566" MONDO:0003517 "ICDO:9080/0" MONDO:0003517 "SCTID:254875009" +MONDO:0060621 "UMLS:C4540493" +MONDO:0060621 "OMIM:617802" MONDO:0011363 "MESH:C566342" MONDO:0011363 "UMLS:C1863594" MONDO:0011363 "OMIM:603694" @@ -93083,23 +90779,23 @@ MONDO:0008937 "OMIM:212890" MONDO:0008937 "UMLS:C1859303" MONDO:0008937 "MESH:C565868" MONDO:0032613 "OMIM:618230" -MONDO:0016877 "ICD10:Q93.5" +MONDO:0016877 "ICD10CM:Q93.5" MONDO:0016877 "Orphanet:261821" MONDO:0019249 "DOID:12798" MONDO:0019249 "MedDRA:10028093" MONDO:0019249 "NCIT:C61259" +MONDO:0019249 "ICD10CM:E76.2" MONDO:0019249 "Orphanet:79213" MONDO:0019249 "GARD:0007065" -MONDO:0019249 "ICD10:E76.3" -MONDO:0019249 "ICD10:E76.0" +MONDO:0019249 "ICD10CM:E76.3" MONDO:0019249 "OMIMPS:607014" +MONDO:0019249 "ICD10CM:E76.0" MONDO:0019249 "UMLS:C0026703" -MONDO:0019249 "ICD10:E76.2" -MONDO:0019249 "ICD10:E76.1" MONDO:0019249 "SCTID:11380006" MONDO:0019249 "MESH:D009083" MONDO:0019249 "ICD9:277.5" MONDO:0019249 "OMIM:252700" +MONDO:0019249 "ICD10CM:E76.1" MONDO:0000262 "MESH:D059249" MONDO:0000262 "SCTID:53316003" MONDO:0000262 "DOID:0050147" @@ -93112,7 +90808,7 @@ MONDO:0006119 "EFO:1000146" MONDO:0100378 "NCIT:C168758" MONDO:0019178 "Orphanet:77300" MONDO:0019178 "UMLS:CN205748" -MONDO:0019178 "ICD10:Q87.0" +MONDO:0019178 "ICD10CM:Q87.0" MONDO:0002529 "EFO:1001927" MONDO:0002529 "ONCOTREE:CSCC" MONDO:0002529 "DOID:3151" @@ -93120,11 +90816,11 @@ MONDO:0002529 "UMLS:C0553723" MONDO:0002529 "SCTID:254651007" MONDO:0002529 "NCIT:C4819" MONDO:0017481 "Orphanet:295059" -MONDO:0017481 "ICD10:Q72.0" +MONDO:0017481 "ICD10CM:Q72.0" MONDO:0005905 "UMLS:C0751774" MONDO:0005905 "EFO:0007428" MONDO:0005905 "DOID:9207" -MONDO:0005905 "ICD10:G47.61" +MONDO:0005905 "ICD10CM:G47.61" MONDO:0005905 "SCTID:418763003" MONDO:0005905 "ICD9:327.51" MONDO:0023099 "GARD:0002377" @@ -93152,13 +90848,13 @@ NCBITaxon:7180 "GC_ID:1" MONDO:0015352 "DOID:0111206" MONDO:0015352 "OMIM:608634" MONDO:0015352 "Orphanet:139525" -MONDO:0015352 "ICD10:G12.2" MONDO:0015352 "OMIM:158590" MONDO:0015352 "OMIM:615575" +MONDO:0015352 "ICD10CM:G12.2" MONDO:0015352 "MESH:C580044" MONDO:0015352 "OMIM:613376" +MONDO:0017552 "ICD10CM:Q74.0" MONDO:0017552 "Orphanet:295213" -MONDO:0017552 "ICD10:Q74.0" MONDO:0003109 "UMLS:C1333630" MONDO:0003109 "DOID:4708" MONDO:0003109 "NCIT:C5280" @@ -93178,7 +90874,6 @@ MONDO:0001976 "ICD9:646.80" MONDO:0001976 "MESH:D020150" MONDO:0001976 "SCTID:25113000" MONDO:0007879 "Orphanet:1202" -MONDO:0007879 "ICD10:Q31.8" MONDO:0007879 "GARD:0003194" MONDO:0007879 "MESH:C563637" MONDO:0007879 "UMLS:C0265756" @@ -93187,6 +90882,7 @@ MONDO:0007879 "GARD:0003192" MONDO:0007879 "OMIM:150300" MONDO:0007879 "NCIT:C98972" MONDO:0007879 "ICD9:748.3" +MONDO:0007879 "ICD10CM:Q31.8" MONDO:0009666 "Orphanet:79242" MONDO:0009666 "DOID:859" MONDO:0009666 "SCTID:15307001" @@ -93194,13 +90890,11 @@ MONDO:0009666 "GARD:0002721" MONDO:0009666 "SCTID:360369003" MONDO:0009666 "NCIT:C98842" MONDO:0009666 "ICD9:270.8" -MONDO:0009666 "ICD10:E53.8" MONDO:0009666 "UMLS:C0268581" MONDO:0009666 "OMIM:253270" -MONDO:0009666 "ICD10:D81.818" +MONDO:0009666 "ICD10CM:E53.8" MONDO:0009666 "MESH:D028922" MONDO:0008412 "NCIT:C35364" -MONDO:0008412 "ICD10:B65.2" MONDO:0008412 "SCTID:240796008" MONDO:0008412 "EFO:1001419" MONDO:0008412 "SCTID:52179003" @@ -93213,7 +90907,6 @@ MONDO:0008412 "MESH:D012554" MONDO:0008412 "MESH:D012555" MONDO:0008412 "UMLS:C0276932" MONDO:0008412 "DOID:0050597" -MONDO:0008412 "ICD10:B65.1" MONDO:0008412 "SCTID:750009" MONDO:0008412 "SCTID:268058007" MONDO:0012075 "Orphanet:300576" @@ -93228,7 +90921,6 @@ MONDO:0000758 "MESH:D016917" MONDO:0000758 "ICD9:083.8" MONDO:0000758 "DOID:0060345" MONDO:0016426 "DOID:0050289" -MONDO:0016426 "ICD10:B48.7" MONDO:0016426 "SCTID:64250002" MONDO:0016426 "Orphanet:228119" MONDO:0016426 "MESH:D060585" @@ -93238,9 +90930,10 @@ MONDO:0016793 "UMLS:CN202050" MONDO:0016793 "Orphanet:254776" MONDO:0011142 "GARD:0000545" MONDO:0011142 "SCTID:720860004" -MONDO:0011142 "ICD10:Q79.6" MONDO:0011142 "OMIM:615539" +MONDO:0011142 "ICD10CM:Q79.6" MONDO:0011142 "GARD:0008486" +MONDO:0011142 "OMIM:601776" MONDO:0011142 "MESH:C000600608" MONDO:0011142 "Orphanet:2953" MONDO:0006477 "EFO:1000605" @@ -93251,22 +90944,22 @@ MONDO:0024548 "UMLS:C3891449" MONDO:0024548 "Orphanet:263553" MONDO:0024548 "UMLS:CN202306" MONDO:0024548 "Orphanet:263543" -MONDO:0024548 "ICD10:Q80.8" +MONDO:0024548 "ICD10CM:Q80.8" MONDO:0024548 "OMIM:270300" MONDO:0002580 "MESH:C537605" MONDO:0002580 "NCIT:C4543" MONDO:0002580 "SCTID:254994000" MONDO:0002580 "UMLS:C0346347" MONDO:0002580 "DOID:3259" -MONDO:0009853 "ICD10:D51.1" MONDO:0009853 "ICD9:281.3" +MONDO:0009853 "ICD10CM:D51.1" MONDO:0009853 "GARD:0007006" MONDO:0009853 "OMIMPS:261100" MONDO:0009853 "SCTID:360495000" MONDO:0009853 "Orphanet:35858" -MONDO:0017867 "ICD10:Q93.5" MONDO:0017867 "Orphanet:319171" MONDO:0017867 "UMLS:CN203914" +MONDO:0017867 "ICD10CM:Q93.5" MONDO:0030531 "OMIM:619712" CL:0002422 "CALOHA:TS-0864" CL:0002422 "FMA:66785" @@ -93276,17 +90969,17 @@ MONDO:0010130 "MedDRA:10052622" MONDO:0010130 "MESH:D054067" MONDO:0010130 "UMLS:C1959620" MONDO:0010130 "Orphanet:1675" +MONDO:0010130 "ICD10CM:E79.8" MONDO:0010130 "ICD9:277.2" MONDO:0010130 "GARD:0000019" MONDO:0010130 "SCTID:77365006" MONDO:0010130 "DOID:14218" MONDO:0010130 "NCIT:C84672" -MONDO:0010130 "ICD10:E79.8" MONDO:0025152 "MESH:D018420" MONDO:0025152 "UMLS:C0242635" MONDO:0013524 "Orphanet:220443" -MONDO:0013524 "ICD10:D69.8" MONDO:0013524 "OMIM:614009" +MONDO:0013524 "ICD10CM:D69.8" MONDO:0003519 "SCTID:254712007" MONDO:0003519 "GARD:0010438" MONDO:0003519 "ONCOTREE:MAC" @@ -93297,10 +90990,10 @@ MONDO:0018471 "UMLS:CN237455" MONDO:0018471 "SCTID:254664008" MONDO:0018471 "UMLS:C0345985" MONDO:0018471 "Orphanet:411777" -MONDO:0018471 "ICD10:L85.8" +MONDO:0018471 "ICD10CM:L85.8" MONDO:0009489 "OMIM:244850" MONDO:0009489 "SCTID:717228004" -MONDO:0009489 "ICD10:Q82.8" +MONDO:0009489 "ICD10CM:Q82.8" MONDO:0009489 "Orphanet:86923" MONDO:0009489 "MESH:C565454" MONDO:0002697 "UMLS:C1518716" @@ -93312,27 +91005,27 @@ MONDO:0002697 "Orphanet:206484" MONDO:0002697 "NCIT:C39985" MONDO:0002697 "SCTID:716594002" MONDO:0019802 "Orphanet:95427" -MONDO:0019802 "ICD10:K91.2" MONDO:0019802 "UMLS:CN206757" +MONDO:0019802 "ICD10CM:K91.2" MONDO:0014098 "OMIM:615238" MONDO:0014098 "DOID:0070203" MONDO:0014098 "Orphanet:435651" -MONDO:0014098 "ICD10:E88.1" MONDO:0014098 "UMLS:C3808940" +MONDO:0014098 "ICD10CM:E88.1" MONDO:0014098 "GARD:0013125" MONDO:0010586 "NCIT:C141423" MONDO:0010586 "OMIM:305200" +MONDO:0010586 "ICD10CM:Q79.6" MONDO:0010586 "UMLS:C0268341" MONDO:0010586 "Orphanet:75497" MONDO:0010586 "SCTID:67202007" MONDO:0010586 "MESH:C536197" -MONDO:0010586 "ICD10:Q79.6" MONDO:0020651 "ONCOTREE:VMGCT" -MONDO:0011532 "ICD10:G11.4" MONDO:0011532 "MESH:C537485" MONDO:0011532 "OMIM:605280" MONDO:0011532 "Orphanet:100994" MONDO:0011532 "GARD:0009616" +MONDO:0011532 "ICD10CM:G11.4" MONDO:0011532 "UMLS:C1854467" MONDO:0011532 "DOID:0110766" MONDO:0002779 "DOID:3813" @@ -93355,52 +91048,51 @@ HP:0001096 "SNOMEDCT_US:88151007" HP:0001096 "UMLS:C0022573" HP:0001096 "MSH:D007637" MONDO:0013711 "Orphanet:397744" +MONDO:0013711 "ICD10CM:G60.0" MONDO:0013711 "OMIM:614369" -MONDO:0013711 "ICD10:G60.0" MONDO:0013711 "UMLS:C3280556" -MONDO:0019028 "ICD10:A06.8" MONDO:0019028 "UMLS:C2930799" -MONDO:0019028 "ICD10:A06.9" -MONDO:0019028 "ICD10:A06.6" -MONDO:0019028 "ICD10:A06.3" -MONDO:0019028 "ICD10:A06.0" +MONDO:0019028 "ICD10CM:A06.2" +MONDO:0019028 "ICD10CM:A06.5" +MONDO:0019028 "ICD10CM:A06.3" +MONDO:0019028 "ICD10CM:A06.0" +MONDO:0019028 "ICD10CM:A06.9" +MONDO:0019028 "ICD10CM:A06.6" MONDO:0019028 "Orphanet:67" -MONDO:0019028 "ICD10:A06.1" -MONDO:0019028 "ICD10:A06.7" -MONDO:0019028 "ICD10:A06.4" +MONDO:0019028 "ICD10CM:A06.7" +MONDO:0019028 "ICD10CM:A06.4" +MONDO:0019028 "ICD10CM:A06.1" MONDO:0019028 "MESH:C531613" -MONDO:0019028 "ICD10:A06.5" -MONDO:0019028 "ICD10:A06.2" +MONDO:0019028 "ICD10CM:A06.8" MONDO:0004190 "NCIT:C7415" MONDO:0004190 "DOID:7333" MONDO:0004190 "UMLS:C1336892" MONDO:0033311 "UMLS:CN601375" MONDO:0033311 "DOID:0080279" MONDO:0033311 "OMIM:617767" -MONDO:0015131 "ICD10:D81.0" -MONDO:0015131 "ICD10:D81.5" MONDO:0015131 "UMLS:C0494261" -MONDO:0015131 "DOID:628" -MONDO:0015131 "ICD10:D81.7" -MONDO:0015131 "ICD10:D81.2" -MONDO:0015131 "NCIT:C27871" -MONDO:0015131 "ICD10:D81.9" -MONDO:0015131 "ICD10:D81.1" -MONDO:0015131 "ICD10:D81" -MONDO:0015131 "ICD10:D81.4" -MONDO:0015131 "ICD10:D81.3" +MONDO:0015131 "ICD10CM:D81.8" +MONDO:0015131 "ICD10CM:D81.2" +MONDO:0015131 "ICD10CM:D81.0" MONDO:0015131 "Orphanet:101972" -MONDO:0015131 "ICD9:279.2" -MONDO:0015131 "ICD10:D81.6" MONDO:0015131 "OMIM:312863" -MONDO:0015131 "ICD10:D81.8" +MONDO:0015131 "ICD10CM:D81.9" +MONDO:0015131 "ICD9:279.2" +MONDO:0015131 "ICD10CM:D81.4" +MONDO:0015131 "ICD10CM:D81.7" +MONDO:0015131 "ICD10CM:D81.1" +MONDO:0015131 "ICD10CM:D81.6" +MONDO:0015131 "ICD10CM:D81.5" +MONDO:0015131 "NCIT:C27871" +MONDO:0015131 "ICD10CM:D81.3" +MONDO:0015131 "DOID:628" MONDO:0019418 "UMLS:CN206173" MONDO:0019418 "Orphanet:85319" -MONDO:0019418 "ICD10:Q87.8" +MONDO:0019418 "ICD10CM:Q87.8" MONDO:0030334 "OMIM:619441" MONDO:0010773 "MESH:C564026" -MONDO:0010773 "ICD10:G71.3" MONDO:0010773 "UMLS:C1839028" +MONDO:0010773 "ICD10CM:G71.3" MONDO:0010773 "GARD:0003881" MONDO:0010773 "OMIM:500002" MONDO:0010773 "Orphanet:2596" @@ -93416,8 +91108,8 @@ HP:0012219 "UMLS:C0014743" HP:0012219 "MSH:D004893" MONDO:0010983 "Orphanet:53583" MONDO:0010983 "SCTID:715564000" +MONDO:0010983 "ICD10CM:G24.8" MONDO:0010983 "MESH:C563401" -MONDO:0010983 "ICD10:G24.8" MONDO:0010983 "OMIM:601042" MONDO:0010983 "UMLS:C1832855" MONDO:0010983 "DOID:0090044" @@ -93434,8 +91126,8 @@ MONDO:0003266 "NCIT:C6770" MONDO:0003266 "Orphanet:301" MONDO:0003266 "ONCOTREE:EPMT" MONDO:0003266 "EFO:1000027" -MONDO:0003266 "ICD10:C71.7" MONDO:0003266 "OMIM:137800" +MONDO:0003266 "ICD10CM:C71.7" MONDO:0003266 "UMLS:CN203416" MONDO:0003266 "UMLS:C1333407" MONDO:0003266 "UMLS:C0014474" @@ -93445,7 +91137,6 @@ MONDO:0010820 "GARD:0009642" MONDO:0010820 "DOID:0060368" MONDO:0010820 "UMLS:C1868675" MONDO:0010820 "MESH:D020734" -MONDO:0000700 "ICD10:G43.8" MONDO:0000700 "OMIM:609634" MONDO:0000700 "OMIM:602481" MONDO:0000700 "Orphanet:569" @@ -93458,8 +91149,8 @@ MONDO:0000700 "OMIM:300125" MONDO:0000700 "DOID:0060178" MONDO:0000700 "OMIM:141500" MONDO:0000700 "OMIMPS:141500" +MONDO:0015560 "ICD10CM:C94.3" MONDO:0015560 "Orphanet:158796" -MONDO:0015560 "ICD10:C94.3" MONDO:0014788 "Orphanet:466801" MONDO:0014788 "UMLS:C4225192" MONDO:0014788 "OMIM:616827" @@ -93469,6 +91160,7 @@ MONDO:0004298 "UMLS:C0038354" MONDO:0004298 "ICD9:537.89" MONDO:0004298 "ICD9:537.9" MONDO:0004298 "NCIT:C26886" +MONDO:0004298 "ICD10CM:K20-K31" MONDO:0004298 "SCTID:29384001" MONDO:0004298 "MESH:D013272" MONDO:0033838 "Orphanet:521123" @@ -93488,7 +91180,6 @@ MONDO:0005201 "MESH:D002313" MONDO:0005201 "Orphanet:217632" MONDO:0005201 "OMIM:612422" MONDO:0005201 "ICD9:425.4" -MONDO:0005201 "ICD10:I42.5" MONDO:0005201 "OMIM:615248" MONDO:0005201 "OMIM:609578" MONDO:0020808 "NCIT:C4672" @@ -93500,7 +91191,7 @@ MONDO:0009268 "OMIM:231005" MONDO:0009268 "UMLS:C2931585" MONDO:0009268 "GARD:0002445" MONDO:0009268 "UMLS:C1856476" -MONDO:0009268 "ICD10:E75.2" +MONDO:0009268 "ICD10CM:E75.2" MONDO:0012617 "UMLS:C1970195" MONDO:0012617 "Orphanet:88616" MONDO:0012617 "MESH:C567014" @@ -93530,10 +91221,10 @@ NCBITaxon:10374 "GC_ID:1" MONDO:0007705 "UMLS:C0700299" MONDO:0007705 "MedDRA:10002058" MONDO:0007705 "HP:0005511" +MONDO:0007705 "ICD10CM:D58.2" MONDO:0007705 "DOID:0111363" MONDO:0007705 "GARD:0010718" MONDO:0007705 "MESH:C563030" -MONDO:0007705 "ICD10:D58.2" MONDO:0007705 "OMIM:140700" MONDO:0007705 "Orphanet:178330" MONDO:0006642 "MESH:D000430" @@ -93545,7 +91236,6 @@ MONDO:0018063 "Orphanet:33577" MONDO:0018063 "GARD:0007879" MONDO:0018063 "DOID:1525" MONDO:0018063 "EFO:1000742" -MONDO:0018063 "ICD10:M35.6" MONDO:0018063 "SCTID:33760009" MONDO:0018063 "UMLS:C0030328" MONDO:0018063 "MESH:D010201" @@ -93553,7 +91243,7 @@ MONDO:0018063 "MedDRA:10047883" HP:0002086 "UMLS:C4018871" HP:0000774 "SNOMEDCT_US:249671009" HP:0000774 "UMLS:C0426790" -MONDO:0017375 "ICD10:P35.8" +MONDO:0017375 "ICD10CM:P35.8" MONDO:0017375 "UMLS:C4274223" MONDO:0017375 "Orphanet:292" MONDO:0017375 "SCTID:716865000" @@ -93563,27 +91253,25 @@ MONDO:0001117 "SCTID:38959009" MONDO:0001117 "MESH:D008708" MONDO:0001117 "DOID:10783" MONDO:0001117 "UMLS:C0025637" -MONDO:0001117 "ICD10:D74.9" -MONDO:0001117 "ICD10:D74" MONDO:0001117 "NCIT:C34817" MONDO:0018321 "SCTID:725146001" MONDO:0018321 "OMIM:615530" MONDO:0018321 "UMLS:C4510873" +MONDO:0018321 "ICD10CM:G20" MONDO:0018321 "UMLS:CN204972" MONDO:0018321 "OMIM:615528" MONDO:0018321 "Orphanet:391411" -MONDO:0018321 "ICD10:G20" MONDO:0021115 "NCIT:C53555" MONDO:0021115 "UMLS:C3642346" MONDO:0007059 "UMLS:C3495490" MONDO:0007059 "OMIM:201310" MONDO:0007059 "UMLS:C0796290" -MONDO:0007059 "ICD10:Q87.2" MONDO:0007059 "UMLS:CN206860" MONDO:0007059 "SCTID:720458005" MONDO:0007059 "Orphanet:971" MONDO:0007059 "OMIM:102520" MONDO:0007059 "DOID:0060347" +MONDO:0007059 "ICD10CM:Q87.2" MONDO:0007059 "MESH:C563159" MONDO:0002230 "DOID:2153" MONDO:0002230 "UMLS:C1518746" @@ -93604,19 +91292,19 @@ MONDO:0015688 "DOID:0080164" MONDO:0015688 "Orphanet:168943" MONDO:0018777 "UMLS:CN776826" MONDO:0018777 "Orphanet:476119" +MONDO:0009658 "NCIT:C84900" MONDO:0009658 "DOID:0111402" -MONDO:0009658 "GARD:0007074" MONDO:0009658 "SCTID:15892005" +MONDO:0009658 "GARD:0007074" MONDO:0009658 "Orphanet:79272" -MONDO:0009658 "NCIT:C84900" -MONDO:0009658 "OMIM:252940" +MONDO:0009658 "ICD10CM:E76.2" MONDO:0009658 "UMLS:C0086650" MONDO:0009658 "Orphanet:581" -MONDO:0009658 "ICD10:E76.2" +MONDO:0009658 "OMIM:252940" MONDO:0008571 "UMLS:C3150037" MONDO:0008571 "Orphanet:2768" MONDO:0008571 "OMIM:188700" -MONDO:0019310 "ICD10:Q81.2" +MONDO:0019310 "ICD10CM:Q81.2" MONDO:0019310 "OMIM:226600" MONDO:0019310 "UMLS:CN205951" MONDO:0019310 "Orphanet:79409" @@ -93641,11 +91329,8 @@ MONDO:0007374 "MESH:C535475" MONDO:0007374 "SCTID:419395007" MONDO:0007374 "GARD:0009277" MONDO:0007374 "DOID:0060456" +MONDO:0007374 "ICD10CM:H18.5" MONDO:0007374 "Orphanet:98967" -MONDO:0007374 "ICD10:H18.5" -MONDO:0004988 "EFO:0000304" -MONDO:0004988 "DOID:3458" -MONDO:0004988 "NCIT:C5214" MONDO:0006351 "ICDO:9373/0" MONDO:0006351 "UMLS:C1266175" MONDO:0006351 "DOID:2647" @@ -93653,6 +91338,9 @@ MONDO:0006351 "ICDO:9373/1" MONDO:0006351 "NCIT:C6581" MONDO:0006351 "SCTID:404086000" MONDO:0006351 "EFO:1000452" +MONDO:0004988 "EFO:0000304" +MONDO:0004988 "DOID:3458" +MONDO:0004988 "NCIT:C5214" MONDO:0021098 "NCIT:C3713" MONDO:0010623 "Orphanet:431" MONDO:0010623 "SCTID:2355008" @@ -93668,6 +91356,7 @@ MONDO:0004129 "ICDO:8124/3" MONDO:0004129 "DOID:7173" CL:1001609 "CALOHA:TS-0643" MONDO:0016292 "Orphanet:2149" +MONDO:0016292 "ICD10CM:Q04.8" MONDO:0016292 "GARD:0002661" MONDO:0016292 "OMIM:617201" MONDO:0016292 "SCTID:253151003" @@ -93675,7 +91364,6 @@ MONDO:0016292 "OMIM:615544" MONDO:0016292 "OMIM:612881" MONDO:0016292 "OMIM:608097" MONDO:0016292 "OMIM:300049" -MONDO:0016292 "ICD10:Q04.8" MONDO:0016292 "OMIM:608098" NCBITaxon:5691 "GC_ID:1" MONDO:0014980 "OMIMPS:617236" @@ -93687,11 +91375,10 @@ MONDO:0008899 "OMIM:211920" MONDO:0008899 "MESH:C567138" MONDO:0008899 "SCTID:720603002" MONDO:0008899 "GARD:0001068" +MONDO:0008899 "ICD10CM:Q87.1" MONDO:0008899 "Orphanet:1326" -MONDO:0008899 "ICD10:Q87.1" HP:0030850 "UMLS:C0855322" MONDO:0011168 "OMIM:601942" -MONDO:0011168 "ICD10:E10" MONDO:0011168 "DOID:0110749" MONDO:0011168 "UMLS:C1866040" MONDO:0011168 "MESH:C566602" @@ -93701,7 +91388,6 @@ MONDO:0012114 "UMLS:C1837462" MONDO:0014567 "OMIM:616281" MONDO:0014567 "Orphanet:477673" MONDO:0001850 "ICD9:174.5" -MONDO:0001850 "ICD10:C50.51" MONDO:0001850 "UMLS:C0153553" MONDO:0001850 "SCTID:188155002" MONDO:0001850 "DOID:13972" @@ -93714,9 +91400,9 @@ MONDO:0007792 "UMLS:C1840347" MONDO:0007792 "OMIM:145981" MONDO:0007792 "DOID:0060701" MONDO:0007792 "GARD:0009758" -MONDO:0007792 "ICD10:E83.5" MONDO:0007792 "MESH:C537146" MONDO:0007792 "Orphanet:101049" +MONDO:0007792 "ICD10CM:E83.5" MONDO:0014450 "OMIM:616001" MONDO:0014450 "UMLS:C4014918" MONDO:0014450 "Orphanet:180188" @@ -93724,21 +91410,20 @@ MONDO:0042604 "GARD:0000154" MONDO:0042604 "MESH:C537233" MONDO:0042604 "UMLS:C2931451" MONDO:0011909 "UMLS:C1843075" -MONDO:0011909 "ICD10:G60.0" MONDO:0011909 "OMIM:607791" MONDO:0011909 "DOID:0110200" MONDO:0011909 "MESH:C564333" MONDO:0011909 "Orphanet:100046" +MONDO:0011909 "ICD10CM:G60.0" MONDO:0011909 "SCTID:765747004" MONDO:0011909 "GARD:0009207" NCBITaxon:121227 "GC_ID:1" MONDO:0006516 "EFO:1000653" MONDO:0006516 "MESH:D055948" MONDO:0006516 "MedDRA:10063024" +MONDO:0006516 "ICD10CM:M62.84" MONDO:0006516 "UMLS:C0872084" -MONDO:0006516 "ICD10:M62.84" MONDO:0010822 "Orphanet:2510" -MONDO:0010822 "ICD10:Q87.0" MONDO:0010822 "OMIM:600118" MONDO:0010822 "DOID:0110716" MONDO:0000702 "UMLS:C0400821" @@ -93763,14 +91448,13 @@ MONDO:0013555 "UMLS:C3888001" MONDO:0013555 "Orphanet:231512" MONDO:0013555 "Orphanet:79430" MONDO:0013555 "OMIM:614072" +MONDO:0015109 "ICD10CM:Q23.8" MONDO:0015109 "Orphanet:101932" -MONDO:0015109 "ICD10:Q23.8" MONDO:0000271 "DOID:0050166" MONDO:0000271 "ICD9:016.60" MONDO:0000271 "ICD9:016.6" MONDO:0000271 "SCTID:49558004" MONDO:0000271 "UMLS:C0275933" -MONDO:0000271 "ICD10:A18.17" MONDO:0032573 "OMIM:618165" MONDO:0006831 "MedDRA:10024404" MONDO:0006831 "NCIT:C4062" @@ -93781,28 +91465,27 @@ MONDO:0006831 "EFO:1001016" MONDO:0020527 "UMLS:CN207427" MONDO:0020527 "Orphanet:99889" MONDO:0020527 "DOID:0060890" -MONDO:0020527 "ICD10:E24.3" +MONDO:0020527 "ICD10CM:E24.3" MONDO:0001087 "DOID:10646" MONDO:0001087 "MESH:D012569" +MONDO:0001087 "ICD10CM:F20-F29" MONDO:0001087 "ICD9:301.22" -MONDO:0001087 "ICD10:F21" MONDO:0001087 "NCIT:C92632" MONDO:0001087 "SCTID:31027006" MONDO:0012796 "UMLS:C2677516" MONDO:0012796 "MESH:C567422" MONDO:0012796 "DOID:0110376" -MONDO:0012796 "ICD10:H35.5" MONDO:0012796 "GARD:0010379" MONDO:0012796 "OMIM:612095" MONDO:0020104 "UMLS:CN227782" MONDO:0020104 "Orphanet:98369" +MONDO:0010215 "ICD10CM:Q82.1" MONDO:0010215 "Orphanet:910" MONDO:0010215 "SCTID:42530008" MONDO:0010215 "OMIM:278760" MONDO:0010215 "DOID:0110848" MONDO:0010215 "NCIT:C3968" MONDO:0010215 "Orphanet:220295" -MONDO:0010215 "ICD10:Q82.1" MONDO:0010215 "GARD:0005628" MONDO:0010215 "Orphanet:276264" MONDO:0010215 "MESH:C562592" @@ -93828,9 +91511,9 @@ MONDO:0010438 "Orphanet:447" MONDO:0017154 "SCTID:445237003" MONDO:0017154 "Orphanet:275813" MONDO:0017154 "UMLS:C1868851" -MONDO:0017154 "ICD10:I27.2" +MONDO:0017154 "ICD10CM:I27.2" MONDO:0017154 "EFO:0009197" -MONDO:0016598 "ICD10:D75.1" +MONDO:0016598 "ICD10CM:D75.1" MONDO:0016598 "UMLS:CN226972" MONDO:0016598 "Orphanet:247378" MONDO:0005045 "OMIM:613838" @@ -93841,6 +91524,7 @@ MONDO:0005045 "OMIM:613690" MONDO:0005045 "EFO:0000538" MONDO:0005045 "KEGG:05410" MONDO:0005045 "OMIM:613255" +MONDO:0005045 "ICD10CM:I42.1" MONDO:0005045 "OMIM:115197" MONDO:0005045 "Orphanet:217569" MONDO:0005045 "OMIM:601493" @@ -93862,39 +91546,33 @@ MONDO:0005045 "OMIMPS:192600" MONDO:0005045 "OMIM:613873" MONDO:0005045 "MedDRA:10020871" MONDO:0005045 "MESH:D002312" -MONDO:0005045 "ICD10:I42.1" -MONDO:0017544 "ICD10:Q70.1" MONDO:0017544 "Orphanet:295191" -MONDO:0017544 "ICD10:Q70.2" MONDO:0017544 "UMLS:CN203276" -MONDO:0017544 "ICD10:Q70.3" -MONDO:0017544 "ICD10:Q70.0" MONDO:0019100 "EFO:0004256" MONDO:0019100 "DOID:8869" MONDO:0019100 "MESH:D009471" MONDO:0019100 "Orphanet:71211" MONDO:0019100 "UMLS:C0027873" MONDO:0019100 "SCTID:25044007" -MONDO:0019100 "ICD10:G36.0" MONDO:0019100 "NCIT:C84934" MONDO:0019100 "ICD9:341.0" MONDO:0019100 "MedDRA:10029322" MONDO:0019100 "GARD:0006267" MONDO:0000379 "DOID:0050618" -MONDO:0008421 "ICD10:Q87.0" MONDO:0008421 "Orphanet:1968" +MONDO:0008421 "ICD10CM:Q87.0" MONDO:0008421 "MESH:C537339" MONDO:0008421 "GARD:0004873" MONDO:0008421 "OMIM:182150" MONDO:0008421 "UMLS:C1866962" MONDO:0024193 "OMIMPS:617068" MONDO:0012084 "SCTID:237922009" -MONDO:0012084 "ICD10:G24.8" MONDO:0012084 "GARD:0000770" MONDO:0012084 "DOID:0090123" MONDO:0012084 "Orphanet:35708" MONDO:0012084 "OMIM:608643" MONDO:0012084 "NCIT:C142085" +MONDO:0012084 "ICD10CM:G24.8" MONDO:0012084 "ICD9:270.8" MONDO:0012084 "GARD:770" MONDO:0012084 "MESH:C537437" @@ -93905,7 +91583,6 @@ MONDO:0002840 "ICD9:535.7" MONDO:0002840 "ICD9:535.40" MONDO:0002840 "ICD9:535.70" MONDO:0002840 "NCIT:C27052" -MONDO:0012260 "ICD10:Q12.0" MONDO:0012260 "DOID:0110261" MONDO:0012260 "Orphanet:91492" MONDO:0012260 "MESH:C563728" @@ -93915,12 +91592,12 @@ MONDO:0012260 "Orphanet:98991" MONDO:0007224 "OMIM:113301" MONDO:0007224 "MESH:C566193" MONDO:0007224 "UMLS:C1862101" -MONDO:0015196 "ICD10:Q28.2" MONDO:0015196 "SCTID:253194008" MONDO:0015196 "MESH:C536535" MONDO:0015196 "UMLS:C0431420" MONDO:0015196 "GARD:0005467" MONDO:0015196 "Orphanet:1053" +MONDO:0015196 "ICD10CM:Q28.2" NCBITaxon:41819 "GC_ID:1" MONDO:0016142 "HGNC:10806" MONDO:0016142 "GARD:0000870" @@ -93939,7 +91616,6 @@ MONDO:0016785 "UMLS:C0678213" MONDO:0016785 "Orphanet:254688" MONDO:0016785 "SCTID:237249000" MONDO:0016785 "OMIM:231090" -MONDO:0016785 "ICD10:O01.0" MONDO:0005232 "DOID:4552" MONDO:0005232 "UMLS:C0206704" MONDO:0005232 "NCIT:C3780" @@ -93955,12 +91631,12 @@ MONDO:0008749 "UMLS:C2932717" MONDO:0008749 "ICD9:275.49" MONDO:0008749 "Orphanet:94090" MONDO:0008749 "UMLS:CN206737" -MONDO:0008749 "ICD10:E20.1" +MONDO:0008749 "ICD10CM:E20.1" MONDO:0008749 "OMIM:203330" MONDO:0008749 "MESH:C548077" MONDO:0008749 "SCTID:42183005" MONDO:0009823 "NCIT:C123212" -MONDO:0009823 "ICD10:E74.8" +MONDO:0009823 "ICD10CM:E74.8" MONDO:0009823 "OMIM:259900" MONDO:0009823 "MESH:C536414" MONDO:0009823 "Orphanet:416" @@ -93974,7 +91650,6 @@ MONDO:0004012 "NCIT:C36099" MONDO:0004012 "DOID:6847" MONDO:0004012 "UMLS:C1332185" MONDO:0007411 "Orphanet:90348" -MONDO:0007411 "ICD10:Q82.8" MONDO:0007411 "OMIM:123700" MONDO:0007411 "DOID:0070130" MONDO:0007411 "UMLS:C3276539" @@ -93991,7 +91666,6 @@ MONDO:0023138 "MESH:C536179" MONDO:0023138 "GARD:0002282" MONDO:0023138 "UMLS:C2931126" MONDO:0002077 "SCTID:7792000" -MONDO:0002077 "ICD10:O44.0" MONDO:0002077 "ICD9:641.0" MONDO:0002077 "DOID:1677" HP:0000766 "UMLS:C1860493" @@ -94000,7 +91674,6 @@ MONDO:0011205 "UMLS:C1865781" MONDO:0011205 "MESH:C566566" MONDO:0011205 "GARD:0010329" MONDO:0011205 "OMIM:602199" -MONDO:0001711 "ICD10:K72" MONDO:0001711 "ICD9:572.2" MONDO:0001711 "UMLS:C0019151" MONDO:0001711 "MESH:D006501" @@ -94009,12 +91682,11 @@ MONDO:0001711 "DOID:13413" MONDO:0001711 "NCIT:C79596" MONDO:0001711 "SCTID:13920009" MONDO:0001276 "ICD9:315.31" -MONDO:0001276 "ICD10:F80.1" +MONDO:0001276 "ICD10CM:F80.1" MONDO:0001276 "DOID:11385" MONDO:0001276 "SCTID:229733002" MONDO:0001276 "NCIT:C92562" MONDO:0005453 "ICD9:746.89" -MONDO:0005453 "ICD10:Q24.9" MONDO:0005453 "OMIM:615779" MONDO:0005453 "MESH:D006330" MONDO:0005453 "ICD9:746.9" @@ -94029,17 +91701,15 @@ MONDO:0002222 "UMLS:C1336888" MONDO:0002222 "NCIT:C6171" MONDO:0002222 "DOID:2142" MONDO:0019811 "Orphanet:95457" -MONDO:0019811 "ICD10:Q22.4" +MONDO:0019811 "ICD10CM:Q22.4" MONDO:0005739 "SCTID:52918004" MONDO:0005739 "DOID:1218" -MONDO:0005739 "ICD10:B66.8" MONDO:0005739 "MESH:D004451" MONDO:0005739 "UMLS:C0013514" MONDO:0005739 "ICD9:121.8" MONDO:0005739 "EFO:0007246" CL:0002266 "FMA:268736" MONDO:0004652 "NCIT:C26704" -MONDO:0004652 "ICD10:J15.9" MONDO:0004652 "SCTID:53084003" MONDO:0004652 "MESH:D018410" MONDO:0004652 "DOID:874" @@ -94051,10 +91721,10 @@ MONDO:0023650 "GARD:0009714" MONDO:0023650 "SCTID:418040002" MONDO:0023650 "UMLS:C1627365" MONDO:0023650 "MESH:C537031" +MONDO:0018614 "ICD10CM:G40.4" MONDO:0018614 "OMIM:617162" MONDO:0018614 "OMIM:617105" MONDO:0018614 "OMIM:616211" -MONDO:0018614 "ICD10:G40.4" MONDO:0018614 "OMIM:615871" MONDO:0018614 "OMIM:614558" MONDO:0018614 "OMIM:616339" @@ -94081,20 +91751,18 @@ MONDO:0003455 "ICDO:8503/0" MONDO:0002432 "UMLS:C0346331" MONDO:0002432 "SCTID:254980001" MONDO:0002432 "NCIT:C4539" -MONDO:0002432 "ICD10:C72.4" MONDO:0002432 "DOID:2814" MONDO:0030837 "OMIM:619092" MONDO:0022430 "SCTID:233815004" MONDO:0022430 "NCIT:C85006" -MONDO:0000952 "ICD10:C40.2" MONDO:0000952 "DOID:10149" +MONDO:0000952 "ICD10CM:C40.2" MONDO:0000952 "UMLS:C3265932" MONDO:0000952 "ICD9:170.7" MONDO:0000952 "SCTID:449627008" MONDO:0013720 "UMLS:C3280641" MONDO:0013720 "DOID:0060298" MONDO:0013720 "Orphanet:169147" -MONDO:0013720 "ICD10:D84.1" MONDO:0013720 "OMIM:614379" MONDO:0000440 "SCTID:59455009" MONDO:0000440 "DOID:0050758" @@ -94102,7 +91770,6 @@ MONDO:0003663 "NCIT:C40138" MONDO:0003663 "DOID:5829" MONDO:0003663 "UMLS:C1519868" MONDO:0020106 "Orphanet:98372" -MONDO:0020106 "ICD10:D55.2" MONDO:0020106 "UMLS:CN227783" MONDO:0010217 "UMLS:C0265201" MONDO:0010217 "GARD:0008276" @@ -94126,7 +91793,6 @@ NCBITaxon:123367 "GC_ID:1" MONDO:0011428 "DOID:0060783" MONDO:0011428 "Orphanet:1896" MONDO:0011428 "MESH:C565799" -MONDO:0011428 "ICD10:Q82.4" MONDO:0011428 "OMIM:604292" MONDO:0011428 "UMLS:C0406704" MONDO:0006382 "UMLS:C1266050" @@ -94154,12 +91820,13 @@ MONDO:0010627 "UMLS:C0549463" MONDO:0010627 "ICD9:238.79" MONDO:0010627 "OMIM:300635" MONDO:0010627 "NCIT:C61246" -MONDO:0010627 "ICD10:D82.3" MONDO:0010627 "DOID:0060705" MONDO:0003873 "UMLS:C1335183" MONDO:0003873 "NCIT:C7279" MONDO:0003873 "DOID:6407" MONDO:0019356 "Orphanet:83001" +MONDO:0019356 "ICD10CM:Q60-Q64" +MONDO:0019356 "ICD10CM:Q50-Q56" MONDO:0043176 "HGNC:9462" MONDO:0043176 "MESH:C537897" MONDO:0043176 "MESH:C535995" @@ -94170,7 +91837,7 @@ MONDO:0043176 "GARD:0004337" MONDO:0043176 "UMLS:C1291401" HP:0006476 "UMLS:C4025043" MONDO:0018159 "OMIM:615008" -MONDO:0018159 "ICD10:D58.8" +MONDO:0018159 "ICD10CM:D58.8" MONDO:0018159 "DOID:0080388" MONDO:0018159 "Orphanet:357008" MONDO:0018159 "UMLS:CN204596" @@ -94183,44 +91850,44 @@ MONDO:0012806 "Orphanet:238468" MONDO:0001881 "NCIT:C35498" MONDO:0001881 "Orphanet:36234" MONDO:0001881 "MESH:D012772" -MONDO:0001881 "ICD10:A48.3" MONDO:0001881 "UMLS:C0600327" MONDO:0001881 "ICD9:040.82" MONDO:0001881 "DOID:14115" MONDO:0001881 "GARD:0009560" MONDO:0001881 "SCTID:18504008" +MONDO:0001881 "ICD10CM:A48.3" MONDO:0001881 "UMLS:CN204669" -MONDO:0007784 "ICD10:E05.8" MONDO:0007784 "UMLS:C1840364" MONDO:0007784 "Orphanet:165994" MONDO:0007784 "MESH:C564154" +MONDO:0007784 "ICD10CM:E05.8" MONDO:0007784 "DOID:0111374" MONDO:0007784 "OMIM:145650" +MONDO:0015632 "ICD10CM:G71.3" MONDO:0015632 "Orphanet:166105" -MONDO:0015632 "ICD10:G71.3" MONDO:0009340 "GARD:0003672" +MONDO:0009340 "ICD10CM:D55.2" MONDO:0009340 "Orphanet:90031" MONDO:0009340 "MESH:C562995" MONDO:0009340 "OMIM:235700" -MONDO:0009340 "ICD10:D55.2" +MONDO:0018417 "ICD10CM:G11.4" MONDO:0018417 "Orphanet:401800" -MONDO:0018417 "ICD10:G11.4" MONDO:0018417 "UMLS:CN226122" -MONDO:0020682 "OMIM:130070" MONDO:0004910 "SCTID:409712001" MONDO:0004910 "NCIT:C50655" MONDO:0004910 "HP:0001634" MONDO:0004910 "DOID:988" +MONDO:0020682 "OMIM:130070" NCBITaxon:451867 "PMID:17486979" NCBITaxon:451867 "GC_ID:1" +HP:0004327 "UMLS:C4025356" +MONDO:0010814 "ICD10CM:Q87.1" MONDO:0010814 "Orphanet:1422" MONDO:0010814 "UMLS:C1838654" MONDO:0010814 "OMIM:600092" -MONDO:0010814 "ICD10:Q87.1" MONDO:0010814 "MESH:C536123" MONDO:0010814 "DOID:0060644" MONDO:0010814 "SCTID:720851007" -HP:0004327 "UMLS:C4025356" MONDO:0021301 "NCIT:C4192" MONDO:0021301 "UMLS:C0334378" MONDO:0021301 "SCTID:302829009" @@ -94237,7 +91904,7 @@ MONDO:0029141 "OMIM:618144" MONDO:0019753 "NCIT:C115200" MONDO:0019753 "Orphanet:93685" MONDO:0019753 "UMLS:C3898582" -MONDO:0019753 "ICD10:D36.0" +MONDO:0019753 "ICD10CM:D36.0" MONDO:0019753 "GARD:0006005" MONDO:0019753 "UMLS:CN206685" MONDO:0014137 "OMIM:615346" @@ -94259,8 +91926,8 @@ MONDO:0021607 "NCIT:C4356" MONDO:0000544 "UMLS:C3898222" MONDO:0000544 "NCIT:C114828" MONDO:0000544 "DOID:0050929" +MONDO:0006447 "ICD10CM:C62.1" MONDO:0006447 "DOID:4086" -MONDO:0006447 "ICD10:C62.1" MONDO:0006447 "UMLS:CN204702" MONDO:0006447 "EFO:1000570" MONDO:0006447 "NCIT:C9313" @@ -94280,20 +91947,20 @@ MONDO:0013378 "DOID:0080403" MONDO:0014452 "Orphanet:98881" MONDO:0014452 "SCTID:111589005" MONDO:0014452 "ICD9:286.3" -MONDO:0014452 "ICD10:D68.2" MONDO:0014452 "UMLS:CN207171" MONDO:0014452 "Orphanet:335" MONDO:0014452 "GARD:0002004" MONDO:0014452 "Orphanet:248408" +MONDO:0014452 "ICD10CM:D68.2" MONDO:0014452 "NCIT:C131659" MONDO:0014452 "UMLS:C1260903" MONDO:0014452 "OMIM:616004" MONDO:0032612 "OMIM:618229" +MONDO:0007888 "ICD10CM:C64" MONDO:0007888 "GARD:0003218" MONDO:0007888 "UMLS:CN239164" MONDO:0007888 "Orphanet:523" MONDO:0007888 "MESH:C535516" -MONDO:0007888 "ICD10:C64" MONDO:0007888 "GARD:0010096" MONDO:0007888 "NCIT:C51302" MONDO:0007888 "UMLS:C1708350" @@ -94305,19 +91972,19 @@ MONDO:0014710 "Orphanet:477857" MONDO:0001126 "ICD9:531" MONDO:0001126 "DOID:10808" MONDO:0001126 "UMLS:C0038358" +MONDO:0001126 "ICD10CM:K25" MONDO:0001126 "SCTID:397825006" MONDO:0001126 "HP:0002592" MONDO:0001126 "NCIT:C3388" MONDO:0001126 "MESH:D013276" -MONDO:0001126 "ICD10:K25" MONDO:0007029 "ICD9:759.89" MONDO:0007029 "EFO:1001251" MONDO:0007029 "Wikipedia:Branchio-oto-renal_syndrome" MONDO:0007029 "GARD:0010147" MONDO:0007029 "OMIM:113650" +MONDO:0007029 "ICD10CM:Q87.8" MONDO:0007029 "NCIT:C98983" MONDO:0007029 "SCTID:290006" -MONDO:0007029 "ICD10:Q87.8" MONDO:0007029 "UMLS:CN043574" MONDO:0007029 "DOID:14702" MONDO:0007029 "MedDRA:10071135" @@ -94332,8 +91999,8 @@ MONDO:0021124 "UMLS:C0341869" MONDO:0021124 "ICD9:628.8" MONDO:0021124 "EFO:0008560" MONDO:0021124 "MESH:D007247" +MONDO:0021124 "ICD10CM:N97" MONDO:0021124 "SCTID:6738008" -MONDO:0021124 "ICD10:N97" MONDO:0021124 "ICD9:628.9" MONDO:0016435 "UMLS:CN226928" MONDO:0016435 "Orphanet:228221" @@ -94347,8 +92014,8 @@ MONDO:0020274 "UMLS:CN207079" MONDO:0020274 "Orphanet:98704" MONDO:0010038 "Orphanet:73273" MONDO:0010038 "GARD:0010609" -MONDO:0010038 "ICD10:E34.3" MONDO:0010038 "OMIM:270450" +MONDO:0010038 "ICD10CM:E34.3" MONDO:0010038 "UMLS:C1849157" MONDO:0010038 "MESH:C564816" MONDO:0010038 "SCTID:715625007" @@ -94356,7 +92023,6 @@ MONDO:0014068 "UMLS:C3554610" MONDO:0014068 "OMIM:615163" MONDO:0014068 "DOID:0111023" MONDO:0012670 "DOID:0110515" -MONDO:0012670 "ICD10:H90.3" MONDO:0012670 "MESH:C566951" MONDO:0012670 "OMIM:611451" MONDO:0012670 "UMLS:C1969621" @@ -94365,18 +92031,18 @@ MONDO:0003305 "UMLS:C1516371" MONDO:0003305 "NCIT:C41427" MONDO:0022873 "GARD:0001541" MONDO:0018126 "Orphanet:352596" +MONDO:0018126 "ICD10CM:G40.3" MONDO:0018126 "SCTID:763349002" -MONDO:0018126 "ICD10:G40.3" MONDO:0018126 "OMIM:615338" MONDO:0017837 "UMLS:CN203814" -MONDO:0017837 "ICD10:G37.8" MONDO:0017837 "Orphanet:3151" +MONDO:0017837 "ICD10CM:G37.8" MONDO:0012609 "MESH:C567022" +MONDO:0012609 "ICD10CM:G30" MONDO:0012609 "DOID:0110045" MONDO:0012609 "Orphanet:1020" MONDO:0012609 "OMIM:611073" MONDO:0012609 "UMLS:C1970209" -MONDO:0012609 "ICD10:G30" MONDO:0041752 "SCTID:416483009" MONDO:0001313 "UMLS:C0155418" MONDO:0001313 "DOID:11558" @@ -94386,16 +92052,16 @@ MONDO:0007216 "SCTID:720569006" MONDO:0007216 "GARD:0000979" MONDO:0007216 "DOID:0110965" MONDO:0007216 "Orphanet:93396" +MONDO:0007216 "ICD10CM:Q73.8" MONDO:0007216 "OMIM:112600" -MONDO:0007216 "ICD10:Q73.8" MONDO:0007216 "MESH:C537089" MONDO:0007216 "GARD:0000989" MONDO:0016622 "Orphanet:2482" MONDO:0016622 "UMLS:C2931453" MONDO:0016622 "MESH:C537238" -MONDO:0016622 "ICD10:Q76.4" MONDO:0016622 "SCTID:732263008" MONDO:0016622 "GARD:0003462" +MONDO:0016622 "ICD10CM:Q76.4" MONDO:0005904 "SCTID:3238004" MONDO:0005904 "UMLS:C0031046" MONDO:0005904 "EFO:0007427" @@ -94413,16 +92079,15 @@ MONDO:0010100 "DOID:3320" MONDO:0010100 "NCIT:C85184" MONDO:0010100 "UMLS:C0039373" MONDO:0010100 "SCTID:111385000" -MONDO:0010100 "ICD10:E75.0" -MONDO:0010100 "ICD10:E75.02" MONDO:0010100 "MedDRA:10043147" MONDO:0010100 "OMIM:272800" MONDO:0010100 "MESH:D013661" +MONDO:0010100 "ICD10CM:E75.0" +MONDO:0010100 "ICD10CM:E75.02" MONDO:0010100 "GARD:0007737" MONDO:0010100 "Orphanet:845" MONDO:0014255 "OMIM:615561" MONDO:0014255 "UMLS:C3809950" -MONDO:0012943 "ICD10:H35.5" MONDO:0012943 "Orphanet:791" MONDO:0012943 "UMLS:C2675496" MONDO:0012943 "DOID:0110409" @@ -94436,7 +92101,7 @@ HP:0004297 "UMLS:C0940767" NCBITaxon:3758 "GC_ID:1" NCBITaxon:153136 "GC_ID:1" MONDO:0018009 "Orphanet:329883" -MONDO:0018009 "ICD10:K29.6" +MONDO:0018009 "ICD10CM:K29.6" MONDO:0005258 "DOID:0060041" MONDO:0005258 "OMIM:209850" MONDO:0005258 "EFO:0003759" @@ -94447,15 +92112,8 @@ MONDO:0005258 "Orphanet:106" MONDO:0003171 "DOID:4858" MONDO:0003171 "NCIT:C8274" MONDO:0003171 "UMLS:C0280795" -MONDO:0018480 "ICD10:C15.4" -MONDO:0018480 "ICD10:C15.2" -MONDO:0018480 "ICD10:C15.5" -MONDO:0018480 "ICD10:C15.3" MONDO:0018480 "Orphanet:418945" -MONDO:0018480 "ICD10:C15.8" MONDO:0018480 "UMLS:CN237468" -MONDO:0018480 "ICD10:C15.1" -MONDO:0018480 "ICD10:C15.0" MONDO:0014928 "DOID:0110997" MONDO:0014928 "OMIM:617121" MONDO:0014928 "UMLS:C4310705" @@ -94477,13 +92135,13 @@ MONDO:0007437 "Orphanet:99791" MONDO:0007437 "SCTID:109494000" MONDO:0007437 "OMIM:125420" MONDO:0007437 "ICD9:520.5" -MONDO:0007437 "ICD10:K00.5" +MONDO:0007437 "ICD10CM:K00.5" MONDO:0007437 "GARD:0001806" MONDO:0021020 "MedDRA:10057034" MONDO:0021020 "Orphanet:79234" -MONDO:0021020 "ICD10:E80.5" MONDO:0021020 "UMLS:C0010324" MONDO:0021020 "GARD:0000047" +MONDO:0021020 "ICD10CM:E80.5" MONDO:0021020 "SCTID:8933000" MONDO:0021020 "OMIM:218800" MONDO:0006699 "MedDRA:10049891" @@ -94494,7 +92152,7 @@ MONDO:0006699 "MESH:D042883" NCBITaxon:33259 "GC_ID:1" MONDO:0019427 "Orphanet:85334" MONDO:0019427 "UMLS:CN206185" -MONDO:0019427 "ICD10:G31.8" +MONDO:0019427 "ICD10CM:G31.8" MONDO:0019427 "SCTID:718849008" MONDO:0011071 "SCTID:725034002" MONDO:0011071 "Orphanet:71290" @@ -94502,7 +92160,7 @@ MONDO:0011071 "MESH:C563324" MONDO:0011071 "OMIM:616216" MONDO:0011071 "GARD:0010352" MONDO:0011071 "UMLS:C1832388" -MONDO:0011071 "ICD10:D69.4" +MONDO:0011071 "ICD10CM:D69.4" MONDO:0010782 "DOID:0111184" MONDO:0010782 "Orphanet:2598" MONDO:0010782 "UMLS:C4225415" @@ -94510,7 +92168,7 @@ MONDO:0010782 "OMIM:500011" HP:0003418 "SNOMEDCT_US:161891005" HP:0003418 "UMLS:C0004604" HP:0003418 "MSH:D001416" -MONDO:0010270 "ICD10:Q87.8" +MONDO:0010270 "ICD10CM:Q87.8" MONDO:0010270 "OMIM:300218" MONDO:0010270 "GARD:0009156" MONDO:0010270 "UMLS:C4304916" @@ -94519,15 +92177,12 @@ MONDO:0010270 "MESH:C537449" MONDO:0010270 "UMLS:C1846170" MONDO:0010270 "SCTID:719160009" MONDO:0010270 "Orphanet:85274" -MONDO:0000263 "ICD10:J37.1" MONDO:0000263 "ICD9:476.1" MONDO:0000263 "ICD9:464.2" MONDO:0000263 "SCTID:55130001" MONDO:0000263 "ICD9:464" MONDO:0000263 "UMLS:C0023076" -MONDO:0000263 "ICD10:J04.2" MONDO:0000263 "DOID:0050148" -MONDO:0000263 "ICD10:J04" MONDO:0016238 "MESH:D054364" MONDO:0016238 "NCIT:C7634" MONDO:0016238 "MedDRA:10018825" @@ -94536,7 +92191,7 @@ MONDO:0016238 "ONCOTREE:SFT" MONDO:0016238 "ICDO:8815/1" MONDO:0016238 "OMIM:234820" MONDO:0016238 "Orphanet:2126" -MONDO:0016238 "ICD10:D21.9" +MONDO:0016238 "ICD10CM:D21.9" MONDO:0016238 "ICDO:8815/0" MONDO:0016238 "ICD9:238.1" MONDO:0016238 "ICDO:9051/0" @@ -94546,34 +92201,34 @@ MONDO:0011199 "Orphanet:171" MONDO:0011199 "UMLS:C1865831" MONDO:0011199 "MESH:C566573" MONDO:0001079 "ICD9:579.4" -MONDO:0001079 "ICD10:K90.3" +MONDO:0001079 "ICD10CM:K90.3" MONDO:0001079 "SCTID:54576000" MONDO:0001079 "DOID:10610" MONDO:0001079 "UMLS:C0152166" -MONDO:0019614 "ICD10:E23.0" +MONDO:0019614 "ICD10CM:E23.0" MONDO:0019614 "Orphanet:91350" MONDO:0015437 "UMLS:CN037252" MONDO:0015437 "GARD:0006083" -MONDO:0015437 "ICD10:Q93.2" +MONDO:0015437 "ICD10CM:Q93.2" MONDO:0015437 "SCTID:31325007" MONDO:0015437 "Orphanet:1445" MONDO:0015437 "MESH:C537109" MONDO:0045010 "UMLS:C0342844" MONDO:0045010 "SCTID:238045003" +MONDO:0016995 "ICD10CM:D32.9" MONDO:0016995 "UMLS:CN202309" -MONDO:0016995 "ICD10:D32.9" MONDO:0016995 "OMIM:607174" MONDO:0016995 "Orphanet:263662" MONDO:0014302 "DOID:0110813" +MONDO:0014302 "ICD10CM:G11.4" MONDO:0014302 "UMLS:C4284588" MONDO:0014302 "OMIM:615681" MONDO:0014302 "Orphanet:401785" -MONDO:0014302 "ICD10:G11.4" MONDO:0014302 "SCTID:765045003" MONDO:0019179 "MESH:C579873" MONDO:0019179 "UMLS:C3711390" +MONDO:0019179 "ICD10CM:Q93.5" MONDO:0019179 "Orphanet:77301" -MONDO:0019179 "ICD10:Q93.5" MONDO:0019179 "SCTID:724098008" MONDO:0001902 "ICD9:279.04" MONDO:0001902 "DOID:14177" @@ -94599,11 +92254,11 @@ MONDO:0003865 "SCTID:254732008" MONDO:0060622 "OMIM:617804" MONDO:0060622 "UMLS:C4540496" MONDO:0017616 "Orphanet:3062" -MONDO:0017616 "ICD10:Q87.8" +MONDO:0017616 "ICD10CM:Q87.8" +MONDO:0008938 "ICD10CM:G11.1" MONDO:0008938 "SCTID:230228004" MONDO:0008938 "GARD:0002600" MONDO:0008938 "MESH:C535633" -MONDO:0008938 "ICD10:G11.1" MONDO:0008938 "Orphanet:1177" MONDO:0008938 "OMIM:212895" MONDO:0008938 "ICD9:334.3" @@ -94611,20 +92266,20 @@ MONDO:0008938 "UMLS:C0393520" MONDO:0032614 "OMIM:618231" MONDO:0010491 "SCTID:768472004" MONDO:0010491 "Orphanet:300373" -MONDO:0010491 "ICD10:E22.0" MONDO:0010491 "UMLS:CN237731" +MONDO:0010491 "ICD10CM:E22.0" MONDO:0010491 "OMIM:300942" MONDO:0010491 "Orphanet:448372" MONDO:0010491 "UMLS:C3891556" MONDO:0013890 "Orphanet:319160" MONDO:0013890 "OMIM:614807" +MONDO:0013890 "ICD10CM:G71.2" MONDO:0013890 "SCTID:764945007" MONDO:0013890 "UMLS:C3553709" -MONDO:0013890 "ICD10:G71.2" -MONDO:0016878 "ICD10:Q93.5" +MONDO:0016878 "ICD10CM:Q93.5" MONDO:0016878 "Orphanet:261826" MONDO:0016080 "GARD:0001475" -MONDO:0016080 "ICD10:Q32.4" +MONDO:0016080 "ICD10CM:Q32.4" MONDO:0016080 "Orphanet:2040" MONDO:0016080 "SCTID:719452004" MONDO:0013933 "NCIT:C155757" @@ -94638,23 +92293,22 @@ MONDO:0005037 "UMLS:C0279633" MONDO:0005037 "EFO:0000504" MONDO:0005037 "ONCOTREE:ISTAD" MONDO:0005037 "NCIT:C9157" -MONDO:0015834 "ICD10:Q51.1" MONDO:0015834 "MedDRA:10012770" MONDO:0015834 "SCTID:15545001" MONDO:0015834 "Orphanet:180086" MONDO:0015834 "ICD9:752.2" MONDO:0100379 "NCIT:C168759" MONDO:0015918 "Orphanet:182070" +MONDO:0017482 "ICD10CM:Q71.8" MONDO:0017482 "Orphanet:295061" -MONDO:0017482 "ICD10:Q71.8" HP:0011354 "UMLS:C4021157" MONDO:0005906 "ICD9:475" -MONDO:0005906 "ICD10:J36" MONDO:0005906 "SCTID:15033003" MONDO:0005906 "NCIT:C128322" MONDO:0005906 "UMLS:C0031157" MONDO:0005906 "EFO:0007429" MONDO:0005906 "MESH:D000039" +MONDO:0005906 "ICD10CM:J36" MONDO:0100105 "OMIM:618360" MONDO:0015188 "Orphanet:104013" MONDO:0015188 "UMLS:CN197528" @@ -94663,26 +92317,25 @@ MONDO:0000536 "EFO:1001965" MONDO:0000536 "UMLS:C1319317" MONDO:0000536 "NCIT:C102872" MONDO:0000536 "DOID:0050921" -MONDO:0020721 "ICD10:D64.0" +MONDO:0020721 "DOID:0060063" +MONDO:0020721 "SCTID:62677000" MONDO:0020721 "OMIM:300751" MONDO:0020721 "Orphanet:75563" -MONDO:0020721 "GARD:0009456" -MONDO:0020721 "MESH:C536761" -MONDO:0020721 "DOID:0060063" +MONDO:0020721 "ICD10CM:D64.0" MONDO:0020721 "UMLS:C0221018" -MONDO:0020721 "SCTID:62677000" +MONDO:0020721 "MESH:C536761" +MONDO:0020721 "GARD:0009456" MONDO:0009596 "OMIM:250300" MONDO:0009596 "MESH:C565399" MONDO:0009596 "UMLS:C1855195" +MONDO:0022734 "GARD:0001308" MONDO:0008226 "MESH:D010520" MONDO:0008226 "OMIM:608526" MONDO:0008226 "UMLS:C0031106" -MONDO:0008226 "ICD10:K05.2" MONDO:0008226 "OMIM:170650" MONDO:0008226 "DOID:1474" MONDO:0008226 "EFO:0006342" MONDO:0008226 "ICD9:523.5" -MONDO:0022734 "GARD:0001308" MONDO:0012945 "MESH:C567244" MONDO:0012945 "DOID:0060202" MONDO:0012945 "GARD:0010496" @@ -94707,7 +92360,7 @@ MONDO:0011260 "MESH:C566516" MONDO:0011260 "OMIM:602596" MONDO:0018419 "SCTID:766767001" MONDO:0018419 "Orphanet:401820" -MONDO:0018419 "ICD10:G11.4" +MONDO:0018419 "ICD10CM:G11.4" MONDO:0018419 "UMLS:CN226126" MONDO:0006150 "EFO:1000182" MONDO:0006150 "NCIT:C27465" @@ -94741,9 +92394,9 @@ MONDO:0019803 "NCIT:C3926" MONDO:0019803 "OMIM:300652" MONDO:0019803 "OMIM:106050" MONDO:0019803 "DOID:4028" -MONDO:0019803 "ICD10:L81.7" MONDO:0019803 "UMLS:CN206759" MONDO:0019803 "MESH:C536366" +MONDO:0019803 "ICD10CM:L81.7" MONDO:0011143 "DOID:0111011" MONDO:0011143 "GARD:0010656" MONDO:0011143 "OMIM:601777" @@ -94753,17 +92406,17 @@ MONDO:0024549 "Orphanet:98938" MONDO:0024549 "OMIM:300345" MONDO:0018606 "UMLS:CN237640" MONDO:0018606 "Orphanet:440724" +MONDO:0017890 "ICD10CM:C64" MONDO:0017890 "SCTID:733603009" -MONDO:0017890 "ICD10:C64" MONDO:0017890 "UMLS:C4288091" MONDO:0017890 "Orphanet:319325" MONDO:0017890 "NCIT:C126303" MONDO:0007927 "SCTID:270516002" -MONDO:0007927 "ICD10:Q38.2" MONDO:0007927 "ICD9:750.15" MONDO:0007927 "Orphanet:2430" MONDO:0007927 "MESH:C531735" MONDO:0007927 "UMLS:C0024421" +MONDO:0007927 "ICD10CM:Q38.2" MONDO:0007927 "OMIM:153630" MONDO:0009854 "OMIM:261400" MONDO:0018285 "Orphanet:371054" @@ -94772,17 +92425,17 @@ MONDO:0014880 "Orphanet:233" MONDO:0014880 "OMIM:126800" MONDO:0014880 "OMIM:617041" MONDO:0014880 "UMLS:C4310752" +MONDO:0017868 "ICD10CM:Q04.8" MONDO:0017868 "Orphanet:319192" -MONDO:0017868 "ICD10:Q04.8" MONDO:0017070 "Orphanet:268748" +MONDO:0019029 "ICD10CM:K00.4" MONDO:0019029 "SCTID:699756005" MONDO:0019029 "Orphanet:67039" MONDO:0019029 "ICD9:524.89" -MONDO:0019029 "ICD10:K00.4" MONDO:0021294 "SCTID:92560002" MONDO:0021294 "NCIT:C4428" MONDO:0021294 "UMLS:C0345795" -MONDO:0001339 "ICD10:I81" +MONDO:0001339 "ICD10CM:I81" MONDO:0001339 "DOID:11695" MONDO:0001339 "SCTID:17920008" MONDO:0001339 "UMLS:C0155773" @@ -94796,37 +92449,34 @@ MONDO:0010131 "Orphanet:3221" MONDO:0010131 "OMIM:274300" MONDO:0016824 "DOID:0080109" MONDO:0016824 "UMLS:C0206648" +MONDO:0016824 "ICD10CM:D48.1" MONDO:0016824 "GARD:0002998" MONDO:0016824 "Orphanet:2591" MONDO:0016824 "ONCOTREE:IMS" MONDO:0016824 "SCTID:254146000" MONDO:0016824 "ICDO:8824/1" MONDO:0016824 "MESH:D018224" -MONDO:0016824 "ICD10:D48.1" MONDO:0016824 "OMIM:615293" MONDO:0016824 "NCIT:C3742" MONDO:0016824 "OMIMPS:228550" MONDO:0016824 "OMIM:228550" MONDO:0004715 "SCTID:92644006" -MONDO:0004715 "ICD10:D01.5" MONDO:0004715 "DOID:9132" MONDO:0004715 "ICD9:230.8" MONDO:0004715 "UMLS:C0345908" +MONDO:0004715 "ICD10CM:D01.5" MONDO:0020487 "SCTID:240447002" MONDO:0020487 "Orphanet:99748" MONDO:0020487 "NCIT:C128335" MONDO:0020487 "ICD9:041.89" MONDO:0020487 "MedDRA:10054161" -MONDO:0020487 "ICD10:A48.2" MONDO:0020487 "UMLS:C0343528" MONDO:0020487 "DOID:0050150" -MONDO:0013525 "ICD10:Q34.8" MONDO:0013525 "UMLS:C3151460" MONDO:0013525 "DOID:0110613" MONDO:0013525 "OMIM:614017" MONDO:0011364 "OMIM:603720" MONDO:0011364 "UMLS:C1863561" -MONDO:0011364 "ICD10:H90.3" MONDO:0011364 "DOID:0110471" MONDO:0011364 "MESH:C566339" MONDO:0012310 "OMIM:609612" @@ -94839,7 +92489,6 @@ MONDO:0018472 "Orphanet:411788" MONDO:0005898 "UMLS:C0030578" MONDO:0005898 "SCTID:71906005" MONDO:0005898 "DOID:13117" -MONDO:0005898 "ICD10:L03.0" MONDO:0005898 "NCIT:C79702" MONDO:0005898 "EFO:0007421" MONDO:0005898 "ICD9:681.9" @@ -94850,13 +92499,12 @@ MONDO:0013935 "Orphanet:231169" MONDO:0013935 "Orphanet:886" MONDO:0013935 "OMIM:614869" MONDO:0013935 "DOID:0110836" -MONDO:0013935 "ICD10:H35.5" MONDO:0012766 "Orphanet:171612" MONDO:0012766 "UMLS:C2936880" MONDO:0012766 "DOID:0110788" MONDO:0012766 "SCTID:763369007" +MONDO:0012766 "ICD10CM:G11.4" MONDO:0012766 "MESH:C567931" -MONDO:0012766 "ICD10:G11.4" MONDO:0012766 "OMIM:611945" HP:0001097 "UMLS:C2930821" HP:0001097 "UMLS:C0013238" @@ -94876,20 +92524,21 @@ MONDO:0033312 "UMLS:CN404275" MONDO:0033312 "OMIM:617629" MONDO:0033312 "DOID:0080281" MONDO:0019419 "SCTID:719825000" +MONDO:0019419 "ICD10CM:Q87.8" MONDO:0019419 "UMLS:CN206174" MONDO:0019419 "Orphanet:85320" -MONDO:0019419 "ICD10:Q87.8" MONDO:0030335 "OMIM:619445" MONDO:0043543 "UMLS:C0020732" MONDO:0043543 "SCTID:12456005" MONDO:0043543 "ICD9:799.9" +MONDO:0043543 "ICD10CM:T80-T88" MONDO:0043543 "MESH:D007049" MONDO:0003384 "DOID:5302" MONDO:0003384 "UMLS:C1519867" MONDO:0003384 "NCIT:C40139" MONDO:0016112 "Orphanet:206662" MONDO:0016112 "GARD:0001658" -MONDO:0016112 "ICD10:G71.8" +MONDO:0016112 "ICD10CM:G71.8" MONDO:0004128 "UMLS:C1335095" MONDO:0004128 "DOID:7169" MONDO:0004128 "NCIT:C6685" @@ -94900,7 +92549,6 @@ MONDO:0005202 "UMLS:C1706410" MONDO:0005202 "EFO:0002686" HP:0003577 "UMLS:C1836142" HP:0003577 "UMLS:C2752013" -MONDO:0006760 "ICD10:P55" MONDO:0006760 "NCIT:C101304" MONDO:0006760 "DOID:1098" MONDO:0006760 "MESH:D004899" @@ -94908,19 +92556,17 @@ MONDO:0006760 "EFO:1000937" MONDO:0006760 "SCTID:387705004" MONDO:0006760 "UMLS:C0014761" MONDO:0006760 "ICD9:773" -MONDO:0006760 "ICD10:P55.9" MONDO:0006760 "ICD9:773.2" MONDO:0011754 "UMLS:C1846990" MONDO:0011754 "Orphanet:427" MONDO:0011754 "OMIM:606984" -MONDO:0011754 "ICD10:E27.4" MONDO:0011754 "MESH:C564638" MONDO:0011754 "Orphanet:99764" +MONDO:0011754 "ICD10CM:E27.4" MONDO:0010984 "DOID:0110831" MONDO:0010984 "OMIM:601067" MONDO:0010984 "Orphanet:886" MONDO:0010984 "Orphanet:231169" -MONDO:0010984 "ICD10:H35.5" MONDO:0010984 "GARD:0005438" MONDO:0020723 "OMIM:264700" MONDO:0020723 "UMLS:C0268689" @@ -94949,37 +92595,36 @@ MONDO:0023043 "MESH:C538016" MONDO:0023043 "GARD:0002040" MONDO:0044984 "UMLS:C0521744" MONDO:0044984 "SCTID:95767006" +MONDO:0010821 "ICD10CM:F80.1" MONDO:0010821 "Orphanet:1799" MONDO:0010821 "UMLS:C1838630" MONDO:0010821 "SCTID:721220004" MONDO:0010821 "MESH:C563997" MONDO:0010821 "GARD:0001823" MONDO:0010821 "OMIM:600117" -MONDO:0010821 "ICD10:F80.1" MONDO:0015353 "DOID:0111204" MONDO:0015353 "OMIM:600794" MONDO:0015353 "UMLS:C1833308" -MONDO:0015353 "ICD10:G12.2" +MONDO:0015353 "ICD10CM:G12.2" MONDO:0015353 "Orphanet:139536" MONDO:0000701 "MESH:D017091" MONDO:0000701 "SCTID:30588004" MONDO:0000701 "UMLS:C0162529" MONDO:0000701 "DOID:0060181" -MONDO:0000701 "ICD10:K55.9" +MONDO:0017553 "ICD10CM:Q74.0" MONDO:0017553 "Orphanet:295215" -MONDO:0017553 "ICD10:Q74.0" MONDO:0030534 "OMIM:619718" -MONDO:0006643 "ICD10:I42.6" MONDO:0006643 "SCTID:83521008" MONDO:0006643 "MESH:D002310" MONDO:0006643 "UMLS:C0007192" +MONDO:0006643 "ICD10CM:I42.6" MONDO:0006643 "DOID:12935" MONDO:0006643 "MedDRA:10001616" MONDO:0006643 "NCIT:C53653" MONDO:0006643 "ICD9:425.5" MONDO:0006643 "EFO:1000801" +MONDO:0018064 "ICD10CM:Q87.0" MONDO:0018064 "Orphanet:3365" -MONDO:0018064 "ICD10:Q87.0" MONDO:0018064 "GARD:0002756" MONDO:0018064 "SCTID:719949001" CL:0000057 "BTO:0000452" @@ -94998,20 +92643,20 @@ MONDO:0021116 "NCIT:C53554" MONDO:0021116 "UMLS:C3642345" MONDO:0033839 "Orphanet:521127" CL:0002236 "FMA:74226" +MONDO:0016794 "ICD10CM:G71.3" MONDO:0016794 "Orphanet:254788" -MONDO:0016794 "ICD10:G71.3" MONDO:0017740 "Orphanet:309347" MONDO:0017740 "UMLS:CN227187" -MONDO:0017740 "ICD10:E77.8" +MONDO:0017740 "ICD10CM:E77.8" MONDO:0015689 "ICDO:9965/3" MONDO:0015689 "Orphanet:168947" -MONDO:0015689 "ICD10:D47.1" MONDO:0015689 "UMLS:C4545381" MONDO:0015689 "ONCOTREE:MLNPDGFRA" MONDO:0015689 "DOID:0080165" MONDO:0015689 "NCIT:C84275" MONDO:0015689 "UMLS:C2827360" MONDO:0015689 "SCTID:738527001" +MONDO:0015689 "ICD10CM:D47.1" HP:0002733 "UMLS:C0149727" MONDO:0009269 "Orphanet:2623" MONDO:0009269 "OMIM:231050" @@ -95032,10 +92677,10 @@ MONDO:0006888 "ICD9:357.3" MONDO:0006888 "DOID:8681" MONDO:0006888 "EFO:1001085" MONDO:0006888 "UMLS:C0270932" -MONDO:0019311 "ICD10:D23.4" MONDO:0019311 "OMIM:162900" MONDO:0019311 "Orphanet:79414" MONDO:0019311 "UMLS:C0343114" +MONDO:0019311 "ICD10CM:D23.4" MONDO:0019311 "SCTID:239124001" MONDO:0004307 "ICDO:9539/3" MONDO:0004307 "DOID:7613" @@ -95048,12 +92693,12 @@ MONDO:0002559 "NCIT:C6969" MONDO:0002559 "SCTID:404025004" MONDO:0022557 "MESH:C537670" MONDO:0007706 "GARD:0008524" -MONDO:0007706 "ICD10:D18.0" MONDO:0007706 "Orphanet:2124" MONDO:0007706 "OMIM:140850" MONDO:0007706 "UMLS:C0472694" MONDO:0007706 "SCTID:234140000" MONDO:0007706 "MESH:C538144" +MONDO:0007706 "ICD10CM:D18.0" MONDO:0030963 "OMIM:619189" HP:0002087 "UMLS:C4025727" MONDO:0016293 "OMIM:257270" @@ -95062,12 +92707,11 @@ MONDO:0016293 "Orphanet:215" MONDO:0016293 "ICD9:368.61" MONDO:0016293 "OMIM:163500" MONDO:0016293 "SCTID:232061009" -MONDO:0016293 "ICD10:H53.63" -MONDO:0016293 "ICD10:H53.6" MONDO:0016293 "OMIM:614565" MONDO:0016293 "DOID:0050534" MONDO:0016293 "OMIM:310500" MONDO:0016293 "OMIM:610444" +MONDO:0016293 "ICD10CM:H53.6" MONDO:0016293 "OMIM:613830" MONDO:0016293 "OMIM:613216" MONDO:0016293 "OMIM:616389" @@ -95081,23 +92725,18 @@ MONDO:0016293 "MESH:C536122" MONDO:0014981 "UMLS:C4310656" MONDO:0014981 "OMIM:617237" MONDO:0017376 "Orphanet:29207" -MONDO:0017376 "ICD10:M02.8" -MONDO:0017376 "ICD10:M02.1" MONDO:0017376 "ICD9:099.3" MONDO:0017376 "SCTID:129133005" MONDO:0017376 "MESH:D016918" MONDO:0017376 "ICD9:711.3" MONDO:0017376 "NCIT:C128332" MONDO:0017376 "MedDRA:10003267" -MONDO:0017376 "ICD10:M02.3" MONDO:0017376 "DOID:6196" -MONDO:0017376 "ICD10:M02.10" MONDO:0017376 "MedDRA:10038294" MONDO:0017376 "GARD:0005693" MONDO:0017376 "UMLS:CN203069" MONDO:0017376 "EFO:0007460" MONDO:0017376 "ICD9:711.30" -MONDO:0017376 "ICD10:M02.30" MONDO:0017376 "UMLS:C0085435" MONDO:0017376 "ICD9:711.40" MONDO:0017376 "UMLS:C0035012" @@ -95110,13 +92749,13 @@ HP:0000951 "MSH:D012871" HP:0000951 "MSH:D012868" MONDO:0004717 "DOID:914" MONDO:0004717 "UMLS:C0030781" +MONDO:0004717 "ICD10CM:K76.4" MONDO:0004717 "EFO:1001387" MONDO:0004717 "MESH:D010382" MONDO:0004717 "SCTID:58008004" -MONDO:0004717 "ICD10:K76.4" +MONDO:0018322 "ICD10CM:E72.8" MONDO:0018322 "Orphanet:391428" MONDO:0018322 "UMLS:CN204974" -MONDO:0018322 "ICD10:E72.8" MONDO:0018322 "OMIM:300438" MONDO:0003163 "UMLS:C1334254" MONDO:0003163 "DOID:4846" @@ -95140,40 +92779,40 @@ MONDO:0010587 "OMIM:305350" MONDO:0010587 "UMLS:C1844589" MONDO:0010587 "MESH:C564430" MONDO:0020652 "ONCOTREE:VIMT" +MONDO:0011533 "ICD10CM:Q87.2" MONDO:0011533 "DOID:0050814" MONDO:0011533 "OMIM:605282" MONDO:0011533 "Orphanet:363417" MONDO:0011533 "MESH:C536958" MONDO:0011533 "UMLS:C1854466" MONDO:0011533 "GARD:0009679" -MONDO:0011533 "ICD10:Q87.2" MONDO:0008572 "UMLS:C1861099" MONDO:0008572 "OMIM:188740" MONDO:0008572 "DOID:0111564" MONDO:0008572 "MESH:C566046" MONDO:0008572 "Orphanet:988" MONDO:0008572 "Orphanet:3332" -MONDO:0013127 "ICD10:Q77.2" MONDO:0013127 "NCIT:C163755" MONDO:0013127 "DOID:0050549" MONDO:0013127 "Orphanet:93270" MONDO:0013127 "DOID:0110087" +MONDO:0013127 "ICD10CM:Q77.2" MONDO:0013127 "GARD:0004834" MONDO:0013127 "SCTID:27330009" MONDO:0013127 "Orphanet:474" MONDO:0013127 "OMIM:613091" -MONDO:0014685 "ICD10:G40.3" +MONDO:0014685 "ICD10CM:G40.3" MONDO:0014685 "Orphanet:457265" MONDO:0014685 "UMLS:C4225289" MONDO:0014685 "OMIM:616540" MONDO:0014685 "DOID:0111450" MONDO:0007375 "OMIM:121820" MONDO:0007375 "MESH:C535477" +MONDO:0007375 "ICD10CM:H18.5" MONDO:0007375 "DOID:0060447" MONDO:0007375 "GARD:0009732" MONDO:0007375 "SCTID:373426005" MONDO:0007375 "Orphanet:98956" -MONDO:0007375 "ICD10:H18.5" MONDO:0004989 "UMLS:C0678222" MONDO:0004989 "EFO:0000305" MONDO:0004989 "NCIT:C4872" @@ -95198,18 +92837,17 @@ MONDO:0002945 "DOID:4289" MONDO:0002945 "NCIT:C27541" MONDO:0012974 "OMIM:612642" MONDO:0012974 "MESH:C567216" -MONDO:0012974 "ICD10:H90.3" MONDO:0012974 "UMLS:C2675238" MONDO:0012974 "DOID:0110583" +MONDO:0017742 "ICD10CM:E77.8" MONDO:0017742 "Orphanet:309450" MONDO:0017742 "UMLS:CN227189" -MONDO:0017742 "ICD10:E77.8" MONDO:0032574 "OMIM:618167" MONDO:0011169 "UMLS:C1866029" -MONDO:0011169 "ICD10:Q82.8" MONDO:0011169 "Orphanet:281201" MONDO:0011169 "OMIM:601952" MONDO:0011169 "SCTID:763775000" +MONDO:0011169 "ICD10CM:Q82.8" MONDO:0011169 "MESH:C566600" MONDO:0012115 "OMIM:608765" MONDO:0001088 "SCTID:76593002" @@ -95218,7 +92856,6 @@ MONDO:0001088 "ICD9:410.32" MONDO:0001088 "UMLS:C0340304" MONDO:0001088 "DOID:10648" MONDO:0001088 "ICD9:410.30" -MONDO:0005593 "ICD10:K05.3" MONDO:0005593 "MESH:D055113" MONDO:0005593 "NCIT:C35326" MONDO:0005593 "ICD9:523.40" @@ -95226,14 +92863,15 @@ MONDO:0005593 "UMLS:C0266929" MONDO:0005593 "EFO:0006343" MONDO:0005593 "ICD9:523.4" MONDO:0005593 "OMIM:260950" -MONDO:0005593 "OMIM:170650" MONDO:0005593 "SCTID:5689008" +MONDO:0005593 "OMIM:170650" +MONDO:0005593 "ICD10CM:K05.3" NCBITaxon:8015 "PMID:15062801" NCBITaxon:8015 "GC_ID:1" MONDO:0007793 "UMLS:C0410529" +MONDO:0007793 "ICD10CM:Q77.4" MONDO:0007793 "NCIT:C118697" MONDO:0007793 "MedDRA:10020967" -MONDO:0007793 "ICD10:Q77.4" MONDO:0007793 "OMIM:146000" MONDO:0007793 "Orphanet:429" MONDO:0007793 "DOID:0080041" @@ -95255,19 +92893,18 @@ HP:0006000 "UMLS:C0041956" MONDO:0010823 "OMIM:600121" MONDO:0010823 "GARD:0009682" MONDO:0010823 "UMLS:C1838612" -MONDO:0010823 "ICD10:Q77.3" MONDO:0010823 "Orphanet:177" +MONDO:0010823 "ICD10CM:Q77.3" MONDO:0010823 "Orphanet:309803" MONDO:0010823 "DOID:0110853" MONDO:0010823 "MESH:C537608" -MONDO:0000703 "ICD10:K52.89" MONDO:0000703 "NCIT:C27021" +MONDO:0000703 "ICD10CM:K52.831" MONDO:0000703 "Orphanet:36205" MONDO:0000703 "MESH:D046729" MONDO:0000703 "SCTID:19311003" MONDO:0000703 "EFO:1001293" MONDO:0000703 "MedDRA:10048928" -MONDO:0000703 "ICD10:K52.831" MONDO:0000703 "UMLS:C0238067" MONDO:0000703 "ICD9:558.9" MONDO:0000703 "DOID:0060183" @@ -95276,7 +92913,6 @@ MONDO:0008947 "HP:0002135" MONDO:0008947 "OMIM:616413" MONDO:0008947 "ICD9:333.0" MONDO:0008947 "OMIM:114100" -MONDO:0008947 "ICD10:G23.8" MONDO:0008947 "MESH:C536275" MONDO:0008947 "OMIM:606656" MONDO:0008947 "ICD9:348.89" @@ -95286,6 +92922,7 @@ MONDO:0008947 "UMLS:CN852731" MONDO:0008947 "DOID:0060230" MONDO:0008947 "Orphanet:1980" MONDO:0008947 "UMLS:C0393590" +MONDO:0008947 "ICD10CM:G23.8" MONDO:0008947 "SCTID:110997000" MONDO:0008947 "MedDRA:10059626" MONDO:0008947 "OMIMPS:213600" @@ -95315,33 +92952,33 @@ MONDO:0021118 "MESH:D007414" HP:0000554 "SNOMEDCT_US:128473001" HP:0000554 "UMLS:C0042164" HP:0000554 "MSH:D014605" +MONDO:0010439 "OMIM:606163" MONDO:0010439 "GARD:0008311" MONDO:0010439 "OMIM:300829" MONDO:0010439 "MESH:C543241" MONDO:0010439 "UMLS:C1853577" MONDO:0017155 "ICD9:416.8" MONDO:0017155 "Orphanet:275823" -MONDO:0017155 "ICD10:I27.2" MONDO:0017155 "UMLS:C3697477" MONDO:0017155 "SCTID:697907008" +MONDO:0017155 "ICD10CM:I27.2" MONDO:0017155 "EFO:0009198" MONDO:0020190 "Orphanet:98600" MONDO:0020105 "Orphanet:98370" -MONDO:0020105 "ICD10:D55.1" MONDO:0012797 "UMLS:C2677515" MONDO:0012797 "OMIM:612096" MONDO:0012797 "MESH:C567421" MONDO:0014160 "UMLS:C3809332" MONDO:0014160 "Orphanet:397959" -MONDO:0014160 "ICD10:D84.8" +MONDO:0014160 "ICD10CM:D84.8" MONDO:0014160 "OMIM:615387" MONDO:0014160 "DOID:0111977" MONDO:0010216 "Orphanet:1466" MONDO:0010216 "Orphanet:276267" MONDO:0010216 "NCIT:C3969" -MONDO:0010216 "ICD10:Q82.1" MONDO:0010216 "OMIM:278780" MONDO:0010216 "UMLS:C0268141" +MONDO:0010216 "ICD10CM:Q82.1" MONDO:0010216 "UMLS:C1851443" MONDO:0010216 "GARD:0005629" MONDO:0010216 "Orphanet:910" @@ -95363,13 +93000,12 @@ MONDO:0009152 "OMIM:225100" NCBITaxon:10375 "GC_ID:1" MONDO:0022559 "GARD:0008704" MONDO:0015197 "Orphanet:1054" -MONDO:0015197 "ICD10:Q25.4" +MONDO:0015197 "ICD10CM:Q25.4" MONDO:0015197 "UMLS:CN197542" MONDO:0015197 "ICD9:747.29" MONDO:0015197 "GARD:0000670" MONDO:0015197 "SCTID:54160000" MONDO:0016143 "Orphanet:207067" -MONDO:0002724 "ICD10:D47.0" MONDO:0002724 "ICD9:238.79" MONDO:0002724 "DOID:3664" MONDO:0002724 "EFO:0009000" @@ -95380,20 +93016,20 @@ MONDO:0044976 "UMLS:C0520572" MONDO:0044976 "SCTID:78548001" MONDO:0016599 "OMIM:611783" MONDO:0016599 "UMLS:CN201790" +MONDO:0016599 "ICD10CM:D75.1" MONDO:0016599 "Orphanet:247511" -MONDO:0016599 "ICD10:D75.1" MONDO:0016599 "OMIM:609820" MONDO:0001506 "ICD9:601.3" MONDO:0001506 "UMLS:C0156291" MONDO:0001506 "SCTID:67685000" +MONDO:0001506 "ICD10CM:N41.3" MONDO:0001506 "DOID:12355" -MONDO:0001506 "ICD10:N41.3" MONDO:0017545 "UMLS:CN203277" -MONDO:0017545 "ICD10:Q70.3" +MONDO:0017545 "ICD10CM:Q70.3" MONDO:0017545 "Orphanet:295193" -MONDO:0019101 "ICD10:D18.0" +MONDO:0019101 "ICD10CM:D18.0" MONDO:0019101 "Orphanet:71213" -MONDO:0015384 "ICD10:Q38.3" +MONDO:0015384 "ICD10CM:Q38.3" MONDO:0015384 "Orphanet:141071" MONDO:0019975 "GARD:0010014" MONDO:0019975 "UMLS:C4317126" @@ -95401,7 +93037,6 @@ MONDO:0019975 "MedDRA:10029400" MONDO:0019975 "ICD9:265.2" MONDO:0019975 "MESH:D010383" MONDO:0019975 "Orphanet:97352" -MONDO:0019975 "ICD10:E52" MONDO:0019975 "DOID:8457" MONDO:0019975 "EFO:0008570" MONDO:0019975 "SCTID:418279001" @@ -95414,34 +93049,31 @@ NCBITaxon:39724 "GC_ID:1" MONDO:0012085 "UMLS:C1837618" MONDO:0012085 "DOID:0110599" MONDO:0012085 "MESH:C535278" -MONDO:0012085 "ICD10:Q34.8" MONDO:0012085 "OMIM:608644" MONDO:0002078 "NCIT:C84482" MONDO:0002078 "MESH:D006343" MONDO:0002078 "UMLS:C0018816" MONDO:0002078 "SCTID:253273004" MONDO:0002078 "ICD9:745.8" -MONDO:0002078 "ICD10:Q21.9" MONDO:0002078 "ICD9:745.9" MONDO:0002078 "DOID:1681" -MONDO:0002078 "ICD10:Q21" MONDO:0018778 "UMLS:CN776860" MONDO:0018778 "DOID:0050543" MONDO:0018778 "Orphanet:476123" -MONDO:0009659 "Orphanet:309297" -MONDO:0009659 "SCTID:7259005" -MONDO:0009659 "NCIT:C84901" -MONDO:0009659 "ICD10:E76.2" MONDO:0009659 "Orphanet:582" -MONDO:0009659 "GARD:0003785" MONDO:0009659 "DOID:0111391" +MONDO:0009659 "SCTID:7259005" MONDO:0009659 "OMIM:253000" +MONDO:0009659 "ICD10CM:E76.2" +MONDO:0009659 "NCIT:C84901" +MONDO:0009659 "GARD:0003785" +MONDO:0009659 "Orphanet:309297" MONDO:0021829 "MESH:C538059" MONDO:0021829 "UMLS:C2931718" MONDO:0021829 "GARD:0010125" MONDO:0007225 "MESH:C537930" +MONDO:0007225 "ICD10CM:Q73.8" MONDO:0007225 "OMIM:113310" -MONDO:0007225 "ICD10:Q73.8" MONDO:0007225 "Orphanet:1118" MONDO:0007225 "GARD:0002331" MONDO:0007225 "UMLS:C1862100" @@ -95451,7 +93083,6 @@ MONDO:0001712 "DOID:13417" MONDO:0020979 "NCIT:C5565" MONDO:0014264 "OMIM:615589" MONDO:0013010 "MESH:C567562" -MONDO:0013010 "ICD10:H90.3" MONDO:0013010 "OMIM:612789" MONDO:0013010 "DOID:0110522" MONDO:0013010 "UMLS:C2748554" @@ -95464,9 +93095,9 @@ MONDO:0002947 "UMLS:C1304295" MONDO:0002947 "DOID:4290" MONDO:0002947 "SCTID:402524007" MONDO:0018615 "Orphanet:443070" -MONDO:0018615 "ICD10:G44.0" -MONDO:0018615 "ICD10:G44.51" +MONDO:0018615 "ICD10CM:G44.0" MONDO:0018615 "ICD9:339.41" +MONDO:0018615 "ICD10CM:G44.51" MONDO:0018615 "SCTID:443095000" MONDO:0018615 "UMLS:C2349425" MONDO:0018615 "GARD:0010795" @@ -95493,10 +93124,9 @@ MONDO:0004013 "NCIT:C40267" MONDO:0000953 "UMLS:C0153518" MONDO:0000953 "DOID:10151" MONDO:0000953 "SCTID:712525007" -MONDO:0000953 "ICD10:C40.3" +MONDO:0000953 "ICD10CM:C40.3" MONDO:0000953 "ICD9:170.8" MONDO:0004338 "DOID:771" -MONDO:0009154 "ICD10:E03.1" MONDO:0009154 "OMIM:225250" MONDO:0009154 "Orphanet:90673" MONDO:0009154 "DOID:0070125" @@ -95505,25 +93135,24 @@ MONDO:0009154 "UMLS:C2673630" MONDO:0009154 "Orphanet:95712" MONDO:0009154 "Orphanet:95713" MONDO:0009154 "Orphanet:95720" -MONDO:0011429 "ICD10:M08.1" MONDO:0011429 "MESH:D001171" MONDO:0011429 "ICD9:714.33" -MONDO:0011429 "ICD10:M08.9" -MONDO:0011429 "ICD10:M08.3" +MONDO:0011429 "ICD10CM:M08.1" +MONDO:0011429 "ICD10CM:M08.4" MONDO:0011429 "Orphanet:85414" -MONDO:0011429 "ICD10:M08.2" -MONDO:0011429 "ICD10:M08.0" MONDO:0011429 "OMIM:604302" MONDO:0011429 "MedDRA:10059177" MONDO:0011429 "ICD9:714.32" -MONDO:0011429 "ICD10:M08.8" +MONDO:0011429 "ICD10CM:M08.3" +MONDO:0011429 "ICD10CM:M08.9" MONDO:0011429 "SCTID:410502007" MONDO:0011429 "NCIT:C114357" MONDO:0011429 "ICD9:714.3" MONDO:0011429 "ICD9:714.31" -MONDO:0011429 "ICD10:M08.40" MONDO:0011429 "DOID:676" -MONDO:0011429 "ICD10:M08.4" +MONDO:0011429 "ICD10CM:M08.8" +MONDO:0011429 "ICD10CM:M08.2" +MONDO:0011429 "ICD10CM:M08.0" MONDO:0011429 "Orphanet:92" MONDO:0042605 "HGNC:2682" MONDO:0042605 "GARD:0000185" @@ -95532,10 +93161,10 @@ HP:0030222 "SNOMEDCT_US:25762009" HP:0030222 "MSH:D000377" MONDO:0020496 "GARD:0002258" MONDO:0020496 "Orphanet:99810" +MONDO:0020496 "ICD10CM:Q04.6" MONDO:0020496 "OMIM:175780" MONDO:0020496 "OMIM:614483" MONDO:0020496 "OMIMPS:175780" -MONDO:0020496 "ICD10:Q04.6" MONDO:0011206 "UMLS:C1865780" MONDO:0011206 "OMIM:602200" MONDO:0011206 "MESH:C566565" @@ -95557,6 +93186,7 @@ MONDO:0004653 "DOID:8747" MONDO:0004653 "SCTID:277589003" MONDO:0008830 "MedDRA:10068220" MONDO:0008830 "Orphanet:93" +MONDO:0008830 "ICD10CM:E77.1" MONDO:0008830 "DOID:0050461" MONDO:0008830 "UMLS:C0268225" MONDO:0008830 "NCIT:C61273" @@ -95564,19 +93194,17 @@ MONDO:0008830 "SCTID:54954004" MONDO:0008830 "GARD:0005854" MONDO:0008830 "OMIM:208400" MONDO:0008830 "MESH:D054880" -MONDO:0008830 "ICD10:E77.1" MONDO:0009341 "MESH:C536990" MONDO:0009341 "Orphanet:2152" MONDO:0009341 "ICD9:759.89" MONDO:0009341 "DOID:0060485" MONDO:0009341 "GARD:0009673" +MONDO:0009341 "ICD10CM:Q43.1" MONDO:0009341 "OMIM:235730" MONDO:0009341 "SCTID:703535000" MONDO:0009341 "NCIT:C74999" MONDO:0009341 "UMLS:C1856113" -MONDO:0009341 "ICD10:Q43.1" MONDO:0002433 "SCTID:188307009" -MONDO:0002433 "ICD10:C72.50" MONDO:0002433 "ICD9:192.0" MONDO:0002433 "MESH:D003390" MONDO:0002433 "NCIT:C3571" @@ -95594,7 +93222,6 @@ MONDO:0006832 "EFO:1001017" MONDO:0006832 "DOID:1577" NCBITaxon:451868 "PMID:17486979" NCBITaxon:451868 "GC_ID:1" -MONDO:0013721 "ICD10:D84.1" MONDO:0013721 "OMIM:614380" MONDO:0013721 "DOID:0060297" MONDO:0013721 "MESH:C565167" @@ -95604,14 +93231,13 @@ MONDO:0020528 "SCTID:190502001" MONDO:0020528 "MedDRA:10035109" MONDO:0020528 "SCTID:237734007" MONDO:0020528 "MESH:D047748" -MONDO:0020528 "ICD10:E24.0" MONDO:0020528 "Orphanet:99892" MONDO:0020528 "EFO:1001110" MONDO:0020528 "UMLS:C0342442" +MONDO:0020528 "ICD10CM:E24.0" MONDO:0020528 "DOID:3946" MONDO:0020107 "Orphanet:98374" MONDO:0020107 "UMLS:CN227784" -MONDO:0020107 "ICD10:D55.3" MONDO:0004183 "UMLS:C0270921" MONDO:0004183 "DOID:7319" MONDO:0004183 "NCIT:C27301" @@ -95621,15 +93247,17 @@ MONDO:0006383 "Orphanet:178544" MONDO:0006383 "EFO:1000490" MONDO:0006383 "ICDO:9680/3" MONDO:0006383 "NCIT:C45194" +MONDO:0006383 "ICD10CM:C83.3" MONDO:0006383 "UMLS:C1709656" -MONDO:0006383 "ICD10:C83.3" +NCBITaxon:9925 "GC_ID:1" +MONDO:0056815 "UMLS:C3898586" +MONDO:0056815 "NCIT:C118630" MONDO:0001674 "ICD9:562.11" MONDO:0001674 "MESH:D004239" MONDO:0001674 "DOID:13254" MONDO:0001674 "ICD9:562.12" MONDO:0001674 "SCTID:111359004" MONDO:0001674 "UMLS:C0012814" -NCBITaxon:9925 "GC_ID:1" MONDO:0008201 "OMIM:168605" MONDO:0008201 "GARD:0010453" MONDO:0008201 "DOID:0060486" @@ -95643,13 +93271,14 @@ MONDO:0014138 "Orphanet:607" MONDO:0014138 "NCIT:C129871" MONDO:0014138 "UMLS:C3809209" MONDO:0014138 "OMIM:615348" -MONDO:0056815 "UMLS:C3898586" -MONDO:0056815 "NCIT:C118630" MONDO:0003874 "DOID:6408" MONDO:0003874 "UMLS:C1335178" MONDO:0003874 "NCIT:C6256" +MONDO:0002620 "NCIT:C7780" +MONDO:0002620 "UMLS:C0278511" +MONDO:0002620 "DOID:3356" MONDO:0009412 "DOID:13724" -MONDO:0009412 "ICD10:E54" +MONDO:0009412 "ICD10CM:E54" MONDO:0009412 "MESH:D012614" MONDO:0009412 "NCIT:C35010" MONDO:0009412 "UMLS:C0036474" @@ -95658,9 +93287,6 @@ MONDO:0009412 "EFO:1001169" MONDO:0009412 "SCTID:76169001" MONDO:0009412 "MedDRA:10039768" MONDO:0009412 "OMIM:240400" -MONDO:0002620 "NCIT:C7780" -MONDO:0002620 "UMLS:C0278511" -MONDO:0002620 "DOID:3356" MONDO:0013075 "Orphanet:1930" MONDO:0013075 "OMIM:613002" MONDO:0005820 "UMLS:C0023092" @@ -95671,14 +93297,14 @@ MONDO:0005820 "SCTID:19065005" MONDO:0005820 "DOID:9537" MONDO:0005820 "NCIT:C128418" MONDO:0005820 "MESH:D007835" -MONDO:0005820 "ICD10:A96.2" +MONDO:0005820 "ICD10CM:A96.2" MONDO:0005820 "MedDRA:10023927" MONDO:0044628 "Orphanet:488437" +MONDO:0012807 "ICD10CM:Q81.0" MONDO:0012807 "MESH:C567408" MONDO:0012807 "Orphanet:158684" MONDO:0012807 "UMLS:C2677349" MONDO:0012807 "SCTID:716701004" -MONDO:0012807 "ICD10:Q81.0" MONDO:0012807 "OMIM:612138" MONDO:0032776 "OMIM:618481" MONDO:0032776 "DOID:0111634" @@ -95687,8 +93313,8 @@ MONDO:0002726 "DOID:3666" MONDO:0002726 "MESH:D054705" MONDO:0002726 "ICDO:9740/1" MONDO:0002726 "EFO:1001844" -MONDO:0018418 "ICD10:G11.4" MONDO:0018418 "Orphanet:401815" +MONDO:0018418 "ICD10CM:G11.4" MONDO:0018418 "UMLS:CN226125" HP:0000359 "UMLS:C4021809" MONDO:0013379 "OMIM:613706" @@ -95703,13 +93329,13 @@ MONDO:0014453 "UMLS:C4014934" HP:0004328 "UMLS:C4025355" MONDO:0005046 "ICD9:279" MONDO:0005046 "ICD9:279.4" -MONDO:0005046 "ICD10:D89.9" MONDO:0005046 "DOID:2914" MONDO:0005046 "ICD9:279.49" MONDO:0005046 "ICD9:279.19" MONDO:0005046 "ICD9:279.10" MONDO:0005046 "MESH:D001327" MONDO:0005046 "OMIM:109100" +MONDO:0005046 "ICD10CM:D80-D89" MONDO:0005046 "MESH:D007154" MONDO:0005046 "SCTID:414029004" MONDO:0005046 "NCIT:C3507" @@ -95721,10 +93347,10 @@ NCBITaxon:5863 "GC_ID:1" MONDO:0011950 "OMIM:608029" MONDO:0011950 "Orphanet:284332" MONDO:0011950 "GARD:0004954" +MONDO:0011950 "ICD10CM:G11.0" MONDO:0011950 "DOID:0111617" MONDO:0011950 "UMLS:C1842676" MONDO:0011950 "MESH:C537312" -MONDO:0011950 "ICD10:G11.0" HP:0002538 "UMLS:C4025701" MONDO:0029142 "OMIM:618145" MONDO:0029142 "DOID:0111640" @@ -95741,13 +93367,13 @@ MONDO:0005233 "EFO:0003060" MONDO:0005233 "HP:0030358" MONDO:0005233 "UMLS:C0007131" MONDO:0005233 "KEGG:05223" -MONDO:0005233 "ICD10:C34" MONDO:0005233 "MESH:D002289" MONDO:0005233 "NCIT:C2926" MONDO:0005233 "DOID:3908" MONDO:0005233 "SCTID:254637007" MONDO:0005233 "OMIM:211980" MONDO:0005233 "ONCOTREE:NSCLC" +MONDO:0009824 "ICD10CM:E74.8" MONDO:0009824 "NCIT:C123213" MONDO:0009824 "Orphanet:416" MONDO:0009824 "Orphanet:93599" @@ -95757,26 +93383,24 @@ MONDO:0009824 "DOID:0111671" MONDO:0009824 "MESH:C536415" MONDO:0009824 "UMLS:C0268165" MONDO:0009824 "GARD:0002836" -MONDO:0009824 "ICD10:E74.8" MONDO:0009824 "ICD9:271.8" -MONDO:0018127 "ICD10:Q93.5" +MONDO:0018127 "ICD10CM:Q93.5" MONDO:0018127 "Orphanet:352629" MONDO:0018127 "UMLS:CN204505" MONDO:0017838 "Orphanet:3152" MONDO:0017838 "MESH:C537525" MONDO:0017838 "OMIM:269500" -MONDO:0017838 "ICD10:M85.2" MONDO:0017838 "NCIT:C131133" MONDO:0017838 "OMIMPS:269500" MONDO:0017838 "UMLS:C0265301" MONDO:0017838 "SCTID:17568006" MONDO:0017838 "ICD9:756.59" MONDO:0017838 "GARD:0004771" +MONDO:0017838 "ICD10CM:M85.2" MONDO:0017838 "DOID:0060251" MONDO:0017838 "OMIM:614305" MONDO:0000955 "ICD9:152.2" MONDO:0000955 "DOID:10153" -MONDO:0000955 "ICD10:C17.2" MONDO:0041284 "SCTID:267592003" MONDO:0041284 "UMLS:C0234978" MONDO:0010101 "GARD:0005125" @@ -95791,14 +93415,14 @@ MONDO:0014711 "UMLS:C4225265" MONDO:0014711 "OMIM:616625" MONDO:0014711 "DOID:0110162" MONDO:0014711 "Orphanet:488333" +MONDO:0021472 "ICD10CM:D29.4" MONDO:0021472 "ICD9:222.4" MONDO:0021472 "UMLS:C0154011" -MONDO:0021472 "ICD10:D29.4" MONDO:0021472 "NCIT:C3615" MONDO:0021472 "SCTID:92336000" MONDO:0016436 "Orphanet:228224" MONDO:0016436 "UMLS:CN226929" -MONDO:0011208 "ICD10:I77.8" +MONDO:0011208 "ICD10CM:I77.8" MONDO:0011208 "MedDRA:10064281" MONDO:0011208 "SCTID:400171002" MONDO:0011208 "NCIT:C84835" @@ -95811,18 +93435,18 @@ MONDO:0011208 "GARD:0006249" MONDO:0017368 "Orphanet:290836" MONDO:0017368 "UMLS:CN203041" MONDO:0001277 "ICD9:437.4" -MONDO:0001277 "SCTID:28366008" MONDO:0001277 "UMLS:C0007773" +MONDO:0001277 "SCTID:28366008" MONDO:0001277 "DOID:11390" MONDO:0004503 "NCIT:C5290" MONDO:0004503 "UMLS:C1336871" MONDO:0004503 "DOID:8221" -MONDO:0020275 "ICD10:E70.3" +MONDO:0020275 "ICD10CM:E70.3" MONDO:0020275 "Orphanet:98706" MONDO:0014069 "Orphanet:357332" MONDO:0014069 "OMIM:615170" -MONDO:0014069 "ICD10:Q87.2" MONDO:0014069 "UMLS:C3554611" +MONDO:0014069 "ICD10CM:Q87.2" MONDO:0002223 "NCIT:C40444" MONDO:0002223 "UMLS:C1518721" MONDO:0002223 "DOID:2143" @@ -95837,26 +93461,24 @@ MONDO:0017040 "Orphanet:264984" MONDO:0016623 "Orphanet:248293" MONDO:0015600 "UMLS:CN226710" MONDO:0015600 "Orphanet:163971" -MONDO:0015600 "ICD10:Q87.8" MONDO:0015600 "SCTID:719013004" +MONDO:0015600 "ICD10CM:Q87.8" MONDO:0003664 "NCIT:C34376" -MONDO:0003664 "ICD10:D55.D59" MONDO:0003664 "OMIM:612631" MONDO:0003664 "OMIM:266120" MONDO:0003664 "EFO:0005558" -MONDO:0003664 "ICD10:D55-D59" MONDO:0003664 "SCTID:61261009" +MONDO:0003664 "ICD10CM:D55-D59" MONDO:0003664 "MESH:D000743" MONDO:0003664 "DOID:583" MONDO:0014256 "OMIM:615565" MONDO:0014256 "UMLS:C3809954" -MONDO:0014256 "ICD10:H35.5" MONDO:0014256 "DOID:0110359" +NCIT:C15329 "IMDRF:F19" MONDO:0012944 "UMLS:C2675492" MONDO:0012944 "OMIM:612576" MONDO:0012944 "Orphanet:3329" MONDO:0012944 "MESH:C567245" -NCIT:C15329 "IMDRF:F19" MONDO:0011072 "OMIM:601407" MONDO:0011072 "UMLS:C1832387" MONDO:0011072 "MESH:C563323" @@ -95872,18 +93494,12 @@ MONDO:0010628 "OMIM:308250" MONDO:0054780 "MESH:C566678" MONDO:0054780 "OMIM:617948" MONDO:0019357 "Orphanet:831" -MONDO:0019357 "ICD10:Q06.8" -MONDO:0018481 "ICD10:C15.2" -MONDO:0018481 "ICD10:C15.5" -MONDO:0018481 "ICD10:C15.0" -MONDO:0018481 "ICD10:C15.3" -MONDO:0018481 "ICD10:C15.8" +MONDO:0019357 "ICD10CM:Q06.8" MONDO:0018481 "UMLS:CN237469" -MONDO:0018481 "ICD10:C15.1" -MONDO:0018481 "ICD10:C15.4" MONDO:0018481 "Orphanet:418951" MONDO:0018481 "UMLS:C2188058" MONDO:0018481 "NCIT:C27422" +MONDO:0016239 "ICD10CM:E72.04" MONDO:0016239 "Orphanet:213" MONDO:0016239 "MedDRA:10011777" MONDO:0016239 "NCIT:C2976" @@ -95895,16 +93511,14 @@ MONDO:0016239 "OMIM:219800" MONDO:0016239 "OMIM:219750" MONDO:0016239 "OMIM:219900" MONDO:0016239 "SCTID:190681003" -MONDO:0016239 "ICD10:E72.04" MONDO:0016239 "GARD:0006236" -MONDO:0016239 "ICD10:E72.0" +MONDO:0016239 "ICD10CM:E72.0" MONDO:0018871 "SCTID:110005000" MONDO:0018871 "ONCOTREE:AMML" MONDO:0018871 "Orphanet:517" MONDO:0018871 "MedDRA:10000890" MONDO:0018871 "NCIT:C7463" MONDO:0018871 "GARD:0000529" -MONDO:0018871 "ICD10:C92.5" MONDO:0018871 "ICDO:9867/3" MONDO:0018871 "EFO:0000223" MONDO:0018871 "UMLS:C0023479" @@ -95922,17 +93536,16 @@ MONDO:0001535 "MESH:D020421" MONDO:0001535 "UMLS:C0152179" MONDO:0001535 "DOID:12491" MONDO:0001535 "NCIT:C27591" -MONDO:0001535 "ICD10:G52.2" MONDO:0001535 "SCTID:73765005" MONDO:0001535 "ICD9:352.3" MONDO:0007785 "UMLS:C2750824" MONDO:0007785 "OMIM:145680" MONDO:0007785 "MESH:C567719" MONDO:0007785 "DOID:0080219" -MONDO:0007438 "ICD10:K00.5" MONDO:0007438 "Orphanet:99792" MONDO:0007438 "OMIM:125440" MONDO:0007438 "UMLS:C1852201" +MONDO:0007438 "ICD10CM:K00.5" MONDO:0007438 "MESH:C538213" MONDO:0007438 "GARD:0001808" MONDO:0032778 "OMIM:618484" @@ -95940,15 +93553,14 @@ MONDO:0014303 "Orphanet:401810" MONDO:0014303 "UMLS:C3810289" MONDO:0014303 "DOID:0110815" MONDO:0014303 "UMLS:C4511960" +MONDO:0014303 "ICD10CM:G11.4" MONDO:0014303 "SCTID:726609005" MONDO:0014303 "OMIM:615683" -MONDO:0014303 "ICD10:G11.4" MONDO:0001903 "DOID:14181" -MONDO:0001903 "ICD10:M65.2" MONDO:0001903 "SCTID:95414005" MONDO:0001903 "ICD9:726.11" -MONDO:0001903 "ICD10:M75.3" MONDO:0001903 "UMLS:C0521515" +MONDO:0001903 "ICD10CM:M65.2" MONDO:0004911 "DOID:9880" MONDO:0004911 "UMLS:C0039130" MONDO:0004911 "ICD9:093.8" @@ -95961,7 +93573,7 @@ MONDO:0021021 "MESH:C567275" MONDO:0010815 "OMIM:600093" MONDO:0010815 "MESH:C564003" MONDO:0010815 "UMLS:C1838653" -MONDO:0001949 "ICD10:E06.0" +MONDO:0001949 "ICD10CM:E06.0" MONDO:0001949 "UMLS:C0001360" MONDO:0001949 "ICD9:245.0" MONDO:0001949 "SCTID:190293001" @@ -95971,11 +93583,11 @@ MONDO:0008939 "Orphanet:1398" MONDO:0008939 "GARD:0001194" MONDO:0008939 "MedDRA:10008033" MONDO:0008939 "MESH:C562568" +MONDO:0008939 "ICD10CM:Q04.3" MONDO:0008939 "OMIM:213000" MONDO:0008939 "Orphanet:2246" MONDO:0008939 "NCIT:C98890" MONDO:0008939 "SCTID:16026008" -MONDO:0008939 "ICD10:Q04.3" MONDO:0054636 "OMIM:617616" MONDO:0054636 "Orphanet:513456" MONDO:0054636 "UMLS:C4539927" @@ -95983,9 +93595,9 @@ MONDO:0032615 "OMIM:618232" MONDO:0019428 "SCTID:718848000" MONDO:0019428 "UMLS:CN206186" MONDO:0019428 "OMIM:304340" +MONDO:0019428 "ICD10CM:Q87.8" MONDO:0019428 "Orphanet:85335" MONDO:0019428 "UMLS:C4305134" -MONDO:0019428 "ICD10:Q87.8" MONDO:0004269 "DOID:7537" MONDO:0024454 "UMLS:C2931445" MONDO:0024454 "GARD:0007597" @@ -96002,25 +93614,23 @@ MONDO:0000088 "OMIM:176400" MONDO:0000088 "NCIT:C79704" MONDO:0000088 "MESH:D011629" MONDO:0000088 "GARD:0007446" -MONDO:0000088 "ICD10:E22.8" -MONDO:0000088 "ICD10:E30.1" +MONDO:0000088 "ICD10CM:E30.1" MONDO:0008081 "MESH:C537392" MONDO:0008081 "OMIM:162270" MONDO:0018988 "MESH:D057129" MONDO:0018988 "UMLS:C1096100" MONDO:0018988 "SCTID:129623003" MONDO:0018988 "GARD:0000060" +MONDO:0018988 "ICD10CM:H21.1" MONDO:0018988 "MedDRA:10053678" MONDO:0018988 "UMLS:CN205427" -MONDO:0018988 "ICD10:H21.1" MONDO:0018988 "Orphanet:64734" MONDO:0018988 "NCIT:C84792" MONDO:0022462 "GARD:0000716" MONDO:0007280 "GARD:0001146" MONDO:0007280 "DOID:0110228" -MONDO:0007280 "Orphanet:98983" MONDO:0007280 "OMIM:115665" -MONDO:0007280 "ICD10:Q12.0" +MONDO:0007280 "Orphanet:98983" MONDO:0007280 "MESH:C538285" MONDO:0007280 "Orphanet:91492" MONDO:0007280 "UMLS:C1861833" @@ -96028,7 +93638,7 @@ MONDO:0012450 "UMLS:C4274988" MONDO:0012450 "DOID:0050977" MONDO:0012450 "SCTID:715824008" MONDO:0012450 "Orphanet:101109" -MONDO:0012450 "ICD10:G11.1" +MONDO:0012450 "ICD10CM:G11.1" MONDO:0012450 "OMIM:610246" MONDO:0012450 "UMLS:C1853249" MONDO:0012450 "GARD:0009951" @@ -96039,11 +93649,11 @@ MONDO:0022529 "GARD:0010470" MONDO:0022529 "DOID:0040086" MONDO:0022529 "ICD9:079.89" MONDO:0022529 "SCTID:713886006" -MONDO:0002022 "ICD10:H00.H59" +MONDO:0002022 "ICD10CM:H00-H59" MONDO:0002022 "ICD9:362.10" MONDO:0002022 "SCTID:371409005" MONDO:0002022 "DOID:1492" -MONDO:0002022 "ICD10:H35.00" +MONDO:0002022 "ICD10CM:H00-H05" MONDO:0012532 "MESH:C565691" MONDO:0012532 "OMIM:610655" MONDO:0012532 "Orphanet:774" @@ -96054,9 +93664,9 @@ MONDO:0005907 "DOID:4491" MONDO:0005907 "UMLS:C0282550" MONDO:0005907 "SCTID:95877004" MONDO:0005907 "MESH:D018923" +MONDO:0008227 "ICD10CM:Q74.8" MONDO:0008227 "GARD:0002015" MONDO:0008227 "Orphanet:1795" -MONDO:0008227 "ICD10:Q74.8" MONDO:0008227 "UMLS:C0220659" MONDO:0008227 "UMLS:CN074256" MONDO:0008227 "OMIM:170700" @@ -96064,24 +93674,24 @@ MONDO:0010492 "Orphanet:963" MONDO:0010492 "UMLS:C4012409" MONDO:0010492 "OMIM:300943" MONDO:0001127 "UMLS:C0158321" -MONDO:0001127 "SCTID:50127006" MONDO:0001127 "ICD9:726.72" +MONDO:0001127 "SCTID:50127006" MONDO:0001127 "DOID:10810" MONDO:0021125 "NCIT:C41009" MONDO:0016081 "GARD:0001533" -MONDO:0016081 "ICD10:Q24.5" +MONDO:0016081 "ICD10CM:Q24.5" MONDO:0016081 "Orphanet:2041" MONDO:0016081 "MedDRA:10069441" MONDO:0013934 "OMIM:614868" +MONDO:0013934 "ICD10CM:D81.8" MONDO:0013934 "Orphanet:314689" MONDO:0013934 "UMLS:C3553943" -MONDO:0013934 "ICD10:D81.8" MONDO:0015659 "Orphanet:166490" MONDO:0015659 "UMLS:CN200068" MONDO:0019110 "Orphanet:71281" MONDO:0019110 "UMLS:CN205621" -MONDO:0018260 "ICD10:Q84.8" MONDO:0018260 "Orphanet:370052" +MONDO:0018260 "ICD10CM:Q84.8" MONDO:0006151 "UMLS:C1302363" MONDO:0006151 "NCIT:C4847" MONDO:0006151 "SCTID:308870004" @@ -96091,8 +93701,8 @@ MONDO:0009668 "NCIT:C101038" MONDO:0009668 "SCTID:60192008" MONDO:0009668 "OMIM:253290" MONDO:0009668 "ICD9:759.89" +MONDO:0009668 "ICD10CM:Q79.8" MONDO:0009668 "GARD:0003834" -MONDO:0009668 "ICD10:Q79.8" MONDO:0009668 "Orphanet:33108" MONDO:0008414 "DOID:0070077" MONDO:0008414 "OMIM:181510" @@ -96142,10 +93752,10 @@ MONDO:0002939 "DOID:4282" CL:0000440 "BTO:0002277" MONDO:0009855 "UMLS:C1533628" MONDO:0009855 "NCIT:C119676" -MONDO:0009855 "ICD10:E71.3" MONDO:0009855 "SCTID:238068007" MONDO:0009855 "ICD9:277.6" MONDO:0009855 "UMLS:C0342870" +MONDO:0009855 "ICD10CM:E71.3" MONDO:0009855 "Orphanet:300" MONDO:0009855 "UMLS:CN203333" MONDO:0009855 "DOID:0090031" @@ -96154,7 +93764,6 @@ MONDO:0009855 "GARD:0004539" MONDO:0005259 "MESH:D020817" MONDO:0005259 "OMIM:300497" MONDO:0005259 "GARD:0005855" -MONDO:0005259 "ICD10:F84.5" MONDO:0005259 "OMIM:608631" MONDO:0005259 "EFO:0003757" MONDO:0005259 "NCIT:C97159" @@ -96171,27 +93780,27 @@ MONDO:0003172 "NCIT:C27505" MONDO:0003172 "SCTID:403976007" MONDO:0003172 "DOID:486" MONDO:0023170 "GARD:0002350" +MONDO:0019617 "ICD10CM:E23.0" MONDO:0019617 "SCTID:715668008" MONDO:0019617 "UMLS:C4275064" MONDO:0019617 "Orphanet:91354" -MONDO:0019617 "ICD10:E23.0" MONDO:0019617 "UMLS:CN206468" MONDO:0030533 "OMIM:619717" MONDO:0014929 "UMLS:C4310704" MONDO:0014929 "OMIM:617123" MONDO:0001180 "DOID:11031" MONDO:0001180 "ICD9:371.23" -MONDO:0001180 "ICD10:H18.1" +MONDO:0001180 "ICD10CM:H18.1" MONDO:0001180 "SCTID:57207003" MONDO:0001180 "NCIT:C26970" MONDO:0001180 "UMLS:C0155111" MONDO:0007083 "OMIM:104100" MONDO:0007083 "Orphanet:1010" MONDO:0007083 "GARD:0000604" +MONDO:0007083 "ICD10CM:Q82.8" MONDO:0007083 "SCTID:719518004" -MONDO:0007083 "ICD10:Q82.8" -MONDO:0005771 "ICD10:K14.1" MONDO:0005771 "SCTID:59032001" +MONDO:0005771 "ICD10CM:K14.1" MONDO:0005771 "UMLS:C0017677" MONDO:0005771 "OMIM:137400" MONDO:0005771 "NCIT:C84588" @@ -96200,8 +93809,8 @@ MONDO:0005771 "ICD9:529.1" MONDO:0005771 "DOID:1455" MONDO:0013440 "DOID:0110293" MONDO:0013440 "GARD:0012541" -MONDO:0013440 "ICD10:G71.0" MONDO:0013440 "OMIM:613818" +MONDO:0013440 "ICD10CM:G71.0" MONDO:0013440 "Orphanet:280333" MONDO:0013440 "UMLS:C3151184" MONDO:0013526 "DOID:0111449" @@ -96209,34 +93818,33 @@ MONDO:0013526 "GARD:0003872" MONDO:0013526 "UMLS:C3279627" MONDO:0013526 "OMIM:614018" MONDO:0013526 "Orphanet:280620" -MONDO:0013526 "ICD10:G40.3" +MONDO:0013526 "ICD10CM:G40.3" NCBITaxon:111520 "GC_ID:1" MONDO:0019804 "UMLS:C0948187" MONDO:0019804 "HP:0002779" MONDO:0019804 "ICD9:748.3" -MONDO:0019804 "ICD10:Q32.0" MONDO:0019804 "DOID:0060313" MONDO:0019804 "NCIT:C98634" MONDO:0019804 "Orphanet:95430" MONDO:0019804 "MedDRA:10010654" MONDO:0019804 "SCTID:95467005" MONDO:0019804 "GARD:0010515" -MONDO:0007950 "SCTID:78745000" -MONDO:0007950 "DOID:350" MONDO:0007950 "UMLS:C0024899" +MONDO:0007950 "SCTID:78745000" +MONDO:0007950 "NCIT:C84269" MONDO:0007950 "MESH:D008415" -MONDO:0007950 "ICD10:C96.2" +MONDO:0007950 "ICD10CM:D47.0" +MONDO:0007950 "ONCOTREE:MCD" +MONDO:0007950 "ICD10CM:Q82.2" +MONDO:0007950 "DOID:350" MONDO:0007950 "Orphanet:79457" -MONDO:0007950 "GARD:0006987" +MONDO:0007950 "UMLS:C0042111" +MONDO:0007950 "Orphanet:98292" +MONDO:0007950 "MedDRA:10026891" MONDO:0007950 "UMLS:C0334664" +MONDO:0007950 "GARD:0006987" MONDO:0007950 "OMIM:154800" -MONDO:0007950 "ICD10:D47.0" -MONDO:0007950 "MedDRA:10026891" -MONDO:0007950 "ICD10:Q82.2" -MONDO:0007950 "NCIT:C84269" -MONDO:0007950 "Orphanet:98292" -MONDO:0007950 "UMLS:C0042111" -MONDO:0007950 "ONCOTREE:MCD" +MONDO:0007950 "ICD10CM:C96.2" MONDO:0021498 "NCIT:C8545" MONDO:0021498 "UMLS:C0686274" MONDO:0021498 "SCTID:92297008" @@ -96251,20 +93859,20 @@ MONDO:0018607 "Orphanet:440727" MONDO:0007928 "UMLS:C0403445" MONDO:0007928 "NCIT:C131642" MONDO:0020160 "Orphanet:98569" -MONDO:0020160 "ICD10:H02.0" +MONDO:0020160 "ICD10CM:H02.0" MONDO:0010271 "MESH:C564561" MONDO:0010271 "Orphanet:456328" MONDO:0010271 "OMIM:300219" MONDO:0010271 "UMLS:C1846169" +MONDO:0054801 "OMIM:617980" +MONDO:0054801 "DOID:0111632" +MONDO:0054801 "UMLS:CN244941" MONDO:0012124 "Orphanet:168593" MONDO:0012124 "MESH:C563856" +MONDO:0012124 "ICD10CM:G90.8" MONDO:0012124 "GARD:0012382" MONDO:0012124 "OMIM:608800" MONDO:0012124 "UMLS:C1837371" -MONDO:0012124 "ICD10:G90.8" -MONDO:0054801 "OMIM:617980" -MONDO:0054801 "DOID:0111632" -MONDO:0054801 "UMLS:CN244941" MONDO:0020537 "Orphanet:99909" MONDO:0002117 "UMLS:C1096346" MONDO:0002117 "NCIT:C5715" @@ -96282,50 +93890,50 @@ MONDO:0017071 "Orphanet:268752" MONDO:0030962 "OMIM:619201" MONDO:0015438 "UMLS:CN036599" MONDO:0015438 "Orphanet:1446" +MONDO:0015438 "ICD10CM:Q93.2" MONDO:0015438 "GARD:0001336" MONDO:0015438 "SCTID:13555004" -MONDO:0015438 "ICD10:Q93.2" MONDO:0015438 "MESH:C536795" MONDO:0016996 "SCTID:723496007" +MONDO:0016996 "ICD10CM:K63.8" MONDO:0016996 "Orphanet:263665" MONDO:0016996 "UMLS:C4509932" -MONDO:0016996 "ICD10:K63.8" MONDO:0016649 "OMIM:615663" MONDO:0016649 "OMIM:614222" MONDO:0016649 "UMLS:CN158709" -MONDO:0016649 "ICD10:Q87.0" MONDO:0016649 "OMIMPS:600118" MONDO:0016649 "OMIM:614225" MONDO:0016649 "Orphanet:2510" MONDO:0016649 "DOID:0060237" +MONDO:0016649 "ICD10CM:Q87.0" MONDO:0016649 "GARD:0005534" MONDO:0016649 "OMIM:600118" -MONDO:0016825 "ICD10:G71.3" MONDO:0016825 "GARD:0003682" MONDO:0016825 "MESH:C537476" +MONDO:0016825 "ICD10CM:G71.3" MONDO:0016825 "Orphanet:2597" MONDO:0016825 "OMIM:251950" -MONDO:0004716 "NCIT:C7788" -MONDO:0004716 "UMLS:C0154060" -MONDO:0004716 "ICD10:D00.2" -MONDO:0004716 "SCTID:92756002" -MONDO:0004716 "DOID:9138" -MONDO:0004716 "ICD9:230.2" -MONDO:0020488 "ICD10:G23.1" +MONDO:0020488 "ICD10CM:G23.1" MONDO:0020488 "Orphanet:99750" MONDO:0020488 "OMIM:260540" MONDO:0020488 "MESH:C537240" +MONDO:0004716 "ICD10CM:D00.2" +MONDO:0004716 "UMLS:C0154060" +MONDO:0004716 "DOID:9138" +MONDO:0004716 "SCTID:92756002" +MONDO:0004716 "ICD9:230.2" +MONDO:0004716 "NCIT:C7788" MONDO:0007141 "OMIM:107440" MONDO:0003866 "DOID:6370" MONDO:0003866 "UMLS:C1333974" MONDO:0003866 "NCIT:C5833" -MONDO:0011365 "ICD10:Q87.8" MONDO:0011365 "SCTID:699298009" MONDO:0011365 "DOID:0060290" MONDO:0011365 "ICD9:759.89" MONDO:0011365 "Orphanet:3047" MONDO:0011365 "OMIM:603736" MONDO:0011365 "MESH:C536717" +MONDO:0011365 "ICD10CM:Q87.8" MONDO:0012311 "MESH:C566507" MONDO:0012311 "OMIM:609616" MONDO:0012311 "UMLS:C1865022" @@ -96357,18 +93965,17 @@ MONDO:0043544 "SCTID:19168005" MONDO:0043544 "NCIT:C115164" MONDO:0043544 "EFO:1001299" MONDO:0043544 "UMLS:C0205721" -MONDO:0019891 "ICD10:Q93.0" MONDO:0019891 "UMLS:C0795878" MONDO:0019891 "Orphanet:96123" +MONDO:0019891 "ICD10CM:Q93.0" MONDO:0019891 "NCIT:C36461" MONDO:0015919 "Orphanet:182073" MONDO:0015919 "UMLS:CN200517" MONDO:0018694 "Orphanet:454750" -MONDO:0018694 "ICD10:Q39.2" MONDO:0018694 "NCIT:C35080" +MONDO:0016113 "ICD10CM:G12.2" MONDO:0016113 "Orphanet:206701" MONDO:0016113 "SCTID:230253001" -MONDO:0016113 "ICD10:G12.2" MONDO:0005203 "MESH:D015427" MONDO:0005203 "PMID:10685060" MONDO:0005203 "EFO:0002687" @@ -96393,43 +94000,43 @@ MONDO:0006889 "EFO:1001086" MONDO:0006889 "DOID:5334" MONDO:0006889 "MedDRA:10033890" MONDO:0006889 "NCIT:C34893" +MONDO:0006889 "ICD10CM:N47.2" MONDO:0006889 "SCTID:13758004" MONDO:0006889 "UMLS:C0030483" -MONDO:0006889 "ICD10:N47.2" MONDO:0004308 "NCIT:C4073" MONDO:0004308 "UMLS:C0302327" MONDO:0004308 "DOID:7614" MONDO:0033534 "OMIM:618952" MONDO:0015354 "Orphanet:139573" -MONDO:0015354 "ICD10:G60.8" MONDO:0015354 "UMLS:CN226662" MONDO:0015354 "SCTID:717826009" +MONDO:0015354 "ICD10CM:G60.8" MONDO:0015354 "UMLS:C4303566" MONDO:0017554 "Orphanet:295217" -MONDO:0017554 "ICD10:Q74.0" +MONDO:0017554 "ICD10CM:Q74.0" MONDO:0017554 "UMLS:CN203290" MONDO:0030535 "OMIM:619599" MONDO:0006644 "EFO:1000802" MONDO:0006644 "UMLS:C1622502" MONDO:0006644 "NCIT:C34782" -MONDO:0006644 "ICD10:K70.3" MONDO:0006644 "CSP:1754-7677" +MONDO:0006644 "ICD10CM:K70.3" MONDO:0006644 "MESH:D008104" MONDO:0006644 "MedDRA:10001618" MONDO:0006644 "UMLS:C0023891" MONDO:0006644 "ICD9:571.2" MONDO:0006644 "SCTID:419728003" MONDO:0006644 "DOID:14018" +MONDO:0011261 "ICD10CM:Q77.7" MONDO:0011261 "OMIM:602611" -MONDO:0011261 "ICD10:Q77.7" MONDO:0011261 "MESH:C566515" MONDO:0011261 "SCTID:718766002" MONDO:0011261 "Orphanet:163649" MONDO:0002395 "DOID:2697" MONDO:0002395 "NCIT:C8383" MONDO:0002395 "UMLS:C0334684" -MONDO:0018065 "ICD10:Q75.0" MONDO:0018065 "OMIM:614485" +MONDO:0018065 "ICD10CM:Q75.0" MONDO:0018065 "UMLS:CN239481" MONDO:0018065 "OMIMPS:190440" MONDO:0018065 "OMIM:190440" @@ -96444,8 +94051,6 @@ MONDO:0001119 "NCIT:C80099" MONDO:0001119 "UMLS:C0025322" MONDO:0001119 "SCTID:237788002" MONDO:0001119 "MESH:D008594" -MONDO:0001119 "ICD10:E28.319" -MONDO:0001119 "ICD10:E28.31" MONDO:0001119 "DOID:10787" MONDO:0001119 "ICD9:256.31" MONDO:0021117 "NCIT:C3200" @@ -96453,10 +94058,8 @@ MONDO:0021117 "ONCOTREE:LUNG" MONDO:0021117 "MESH:D008175" MONDO:0016428 "Orphanet:228145" MONDO:0001590 "ICD9:344.09" -MONDO:0001590 "ICD10:G82.50" MONDO:0001590 "UMLS:C0034372" MONDO:0001590 "SCTID:11538006" -MONDO:0001590 "ICD10:G82.5" MONDO:0001590 "MESH:D011782" MONDO:0001590 "ICD9:344.00" MONDO:0001590 "DOID:12835" @@ -96470,12 +94073,11 @@ MONDO:0002232 "UMLS:C0339820" MONDO:0005749 "EFO:0007257" MONDO:0005749 "DOID:5870" MONDO:0005749 "NCIT:C35150" -MONDO:0005749 "ICD10:J82" MONDO:0005749 "UMLS:C1527407" MONDO:0016795 "UMLS:CN202051" MONDO:0016795 "Orphanet:254793" +MONDO:0017741 "ICD10CM:E77.8" MONDO:0017741 "UMLS:CN227188" -MONDO:0017741 "ICD10:E77.8" MONDO:0017741 "Orphanet:309447" MONDO:0020010 "UMLS:C0597039" MONDO:0020010 "NCIT:C27590" @@ -96496,15 +94098,15 @@ MONDO:0019312 "OMIM:614077" MONDO:0019312 "OMIM:614074" MONDO:0019312 "DOID:3753" MONDO:0019312 "MedDRA:10071775" -MONDO:0019312 "ICD10:E70.331" +MONDO:0019312 "ICD10CM:E70.3" MONDO:0019312 "OMIM:203300" MONDO:0019312 "OMIM:614076" MONDO:0019312 "OMIMPS:203300" +MONDO:0019312 "ICD10CM:E70.331" MONDO:0019312 "OMIM:614073" MONDO:0019312 "OMIM:614171" MONDO:0019312 "OMIM:608233" MONDO:0019312 "SCTID:9311003" -MONDO:0019312 "ICD10:E70.3" MONDO:0019312 "NCIT:C37261" MONDO:0019312 "Orphanet:79430" MONDO:0019312 "OMIM:614075" @@ -96517,14 +94119,14 @@ MONDO:0012769 "UMLS:C2677772" MONDO:0012769 "Orphanet:1331" MONDO:0012769 "OMIM:611958" MONDO:0017869 "Orphanet:319195" -MONDO:0017869 "ICD10:Q77.6" +MONDO:0017869 "ICD10CM:Q77.6" MONDO:0007376 "OMIM:121850" MONDO:0007376 "DOID:0060448" -MONDO:0007376 "ICD10:H18.5" +MONDO:0007376 "ICD10CM:H18.5" MONDO:0007376 "MESH:C563256" MONDO:0007376 "Orphanet:98970" -MONDO:0007376 "UMLS:C1562113" MONDO:0007376 "SCTID:417183007" +MONDO:0007376 "UMLS:C1562113" MONDO:0007376 "ICD9:371.56" MONDO:0000450 "DOID:0050783" MONDO:0000450 "MESH:D020528" @@ -96536,6 +94138,7 @@ MONDO:0006353 "NCIT:C6835" MONDO:0006353 "UMLS:C1335343" MONDO:0008280 "GARD:0007378" MONDO:0008280 "UMLS:C0031269" +MONDO:0008280 "ICD10CM:Q85.8" MONDO:0008280 "UMLS:C1333088" MONDO:0008280 "OMIM:175200" MONDO:0008280 "SCTID:54411001" @@ -96543,12 +94146,13 @@ MONDO:0008280 "DOID:3852" MONDO:0008280 "ICD9:759.6" MONDO:0008280 "NCIT:C3324" MONDO:0008280 "Orphanet:2869" -MONDO:0008280 "ICD10:Q85.8" MONDO:0008280 "MedDRA:10034764" MONDO:0008280 "MESH:D010580" MONDO:0005936 "EFO:0007461" MONDO:0005936 "HP:0006532" MONDO:0005936 "SCTID:699014000" +MONDO:0010132 "ICD10CM:E03.1" +MONDO:0010132 "ICD10CM:E03.0" MONDO:0010132 "MESH:C564766" MONDO:0010132 "OMIM:274800" MONDO:0010132 "UMLS:C1848805" @@ -96559,11 +94163,9 @@ MONDO:0010132 "Orphanet:95716" MONDO:0010132 "OMIM:274500" MONDO:0010132 "NCIT:C121751" MONDO:0010132 "SCTID:718183003" -MONDO:0010132 "ICD10:E03.1" MONDO:0010132 "OMIM:274700" -MONDO:0010132 "ICD10:E03.0" MONDO:0016294 "UMLS:C1844017" -MONDO:0016294 "ICD10:Q43.1" +MONDO:0016294 "ICD10CM:Q43.1" MONDO:0016294 "OMIM:306980" MONDO:0016294 "MESH:C538319" MONDO:0016294 "Orphanet:2150" @@ -96574,10 +94176,8 @@ MONDO:0014982 "OMIM:617238" MONDO:0014982 "UMLS:C4310655" MONDO:0004718 "DOID:9140" MONDO:0004718 "SCTID:55846006" -MONDO:0004718 "ICD10:H01.14" MONDO:0004718 "UMLS:C0155179" MONDO:0004718 "ICD9:373.33" -MONDO:0019670 "ICD10:Q71.5" MONDO:0019670 "Orphanet:93320" MONDO:0019670 "ICD9:755.59" MONDO:0019670 "SCTID:21893008" @@ -96594,9 +94194,9 @@ MONDO:0018473 "GARD:0006703" MONDO:0018473 "UMLS:C0020479" MONDO:0018473 "UMLS:C1862561" MONDO:0018473 "OMIM:617347" +MONDO:0018473 "ICD10CM:E78.2" MONDO:0018473 "SCTID:398796005" MONDO:0018473 "Orphanet:412" -MONDO:0018473 "ICD10:E78.2" MONDO:0018473 "NCIT:C34710" MONDO:0018473 "DOID:3145" MONDO:0018473 "MedDRA:10060751" @@ -96607,7 +94207,6 @@ MONDO:0011757 "UMLS:C1846949" MONDO:0011757 "OMIM:607004" MONDO:0010987 "UMLS:C1832827" MONDO:0010987 "OMIM:601072" -MONDO:0010987 "ICD10:H90.3" MONDO:0010987 "DOID:0110527" MONDO:0005594 "SCTID:275322007" MONDO:0005594 "NCIT:C34483" @@ -96617,7 +94216,6 @@ MONDO:0007794 "SCTID:123953004" MONDO:0007794 "DOID:0090078" MONDO:0007794 "OMIM:146110" MONDO:0007794 "ICD9:253.4" -MONDO:0007794 "ICD10:E23.0" MONDO:0006540 "DOID:9230" MONDO:0006540 "UMLS:C0032633" MONDO:0006540 "ICD9:705.81" @@ -96632,8 +94230,8 @@ MONDO:0010588 "MESH:C564428" MONDO:0010588 "OMIM:305390" MONDO:0010588 "DOID:0111413" MONDO:0009350 "UMLS:C1856095" +MONDO:0009350 "ICD10CM:Q87.8" MONDO:0009350 "Orphanet:2167" -MONDO:0009350 "ICD10:Q87.8" MONDO:0009350 "MESH:C535327" MONDO:0009350 "OMIM:236110" MONDO:0009350 "DOID:0060566" @@ -96644,29 +94242,26 @@ MONDO:0011534 "DOID:0110196" MONDO:0011534 "UMLS:C1854449" MONDO:0011534 "Orphanet:99953" MONDO:0011534 "GARD:0010132" -MONDO:0011534 "ICD10:G60.0" +MONDO:0011534 "ICD10CM:G60.0" MONDO:0011534 "MESH:C535813" MONDO:0011534 "OMIM:605285" MONDO:0011534 "SCTID:715799004" +MONDO:0010824 "ICD10CM:Q56.3" MONDO:0010824 "GARD:0004550" -MONDO:0010824 "ICD10:Q56.3" MONDO:0010824 "OMIM:600122" MONDO:0010824 "Orphanet:2983" MONDO:0010824 "MESH:C535693" MONDO:0010824 "SCTID:719450007" MONDO:0004192 "SCTID:363459007" -MONDO:0004192 "ICD10:C68.0" MONDO:0004192 "NCIT:C7507" MONDO:0004192 "ONCOTREE:UCA" MONDO:0004192 "NCIT:C9106" MONDO:0004192 "ICD9:189.3" +MONDO:0004192 "ICD10CM:C68.0" MONDO:0004192 "DOID:734" MONDO:0004192 "GARD:0009390" MONDO:0004582 "DOID:8481" -MONDO:0004582 "ICD10:M05.3" MONDO:0004582 "NCIT:C35202" -MONDO:0004582 "ICD10:I01.9" -MONDO:0004582 "ICD10:I09.0" MONDO:0004582 "UMLS:C0155557" MONDO:0004582 "ICD9:391.9" MONDO:0004582 "SCTID:195136004" @@ -96676,25 +94271,21 @@ MONDO:0018544 "OMIM:300100" MONDO:0018544 "GARD:0005758" MONDO:0018544 "MESH:D000326" MONDO:0018544 "OMIM:302700" -MONDO:0018544 "ICD10:E71.52" -MONDO:0018544 "ICD10:E71.529" -MONDO:0018544 "ICD10:E71.3" +MONDO:0018544 "ICD10CM:E71.3" MONDO:0018544 "DOID:10588" MONDO:0018544 "MedDRA:10051260" MONDO:0018544 "ICD9:341.1" -MONDO:0018544 "ICD10:G37.0" MONDO:0018544 "NCIT:C61252" MONDO:0018544 "Orphanet:43" MONDO:0014108 "OMIM:615272" MONDO:0014108 "DOID:0111093" MONDO:0014108 "UMLS:C3808988" MONDO:0012975 "OMIM:612643" -MONDO:0012975 "ICD10:H90.3" MONDO:0012975 "UMLS:C2675237" MONDO:0012975 "MESH:C567215" MONDO:0012975 "DOID:0110565" MONDO:0017743 "Orphanet:309458" -MONDO:0017743 "ICD10:E77.8" +MONDO:0017743 "ICD10CM:E77.8" MONDO:0017743 "UMLS:CN227190" MONDO:0032575 "OMIM:618168" MONDO:0021921 "UMLS:C2931492" @@ -96708,9 +94299,9 @@ MONDO:0001089 "ICD9:410.21" MONDO:0001089 "ICD9:410.22" MONDO:0001089 "UMLS:C0340308" MONDO:0014518 "DOID:0111048" -MONDO:0014518 "ICD10:D69.4" MONDO:0014518 "OMIM:616176" MONDO:0014518 "Orphanet:438207" +MONDO:0014518 "ICD10CM:D69.4" MONDO:0014518 "UMLS:C4015405" MONDO:0003222 "DOID:4955" MONDO:0003222 "EFO:1000493" @@ -96733,13 +94324,13 @@ MONDO:0013349 "UMLS:C3150913" MONDO:0013349 "Orphanet:280071" MONDO:0013349 "DOID:0080567" MONDO:0013349 "SCTID:733085004" -MONDO:0013349 "ICD10:E77.8" +MONDO:0013349 "ICD10CM:E77.8" MONDO:0013349 "OMIM:613661" MONDO:0008970 "DOID:0060387" MONDO:0008970 "NCIT:C131420" -MONDO:0008970 "ICD10:Q78.8" MONDO:0008970 "Orphanet:50945" MONDO:0008970 "MESH:C537914" +MONDO:0008970 "ICD10CM:Q78.8" MONDO:0008970 "GARD:0000914" MONDO:0008970 "UMLS:C1859148" MONDO:0008970 "OMIM:215045" @@ -96749,23 +94340,22 @@ MONDO:0003268 "DOID:5076" MONDO:0003268 "UMLS:C0259783" MONDO:0003268 "NCIT:C3903" MONDO:0003268 "SCTID:443937008" -MONDO:0017930 "ICD10:M85.8" MONDO:0017930 "Orphanet:324364" +MONDO:0017930 "ICD10CM:M85.8" CL:0000058 "BTO:0003607" CL:0000058 "FMA:66783" MONDO:0001440 "SCTID:77080005" MONDO:0001440 "UMLS:C0155084" MONDO:0001440 "DOID:12125" -MONDO:0001440 "ICD10:H16.23" MONDO:0001440 "ICD9:370.35" -MONDO:0007343 "ICD10:Q68.1" MONDO:0007343 "Orphanet:217059" +MONDO:0007343 "ICD10CM:Q68.1" MONDO:0007343 "OMIM:119900" MONDO:0015562 "UMLS:C4275171" MONDO:0015562 "SCTID:715365000" MONDO:0015562 "GARD:0010972" MONDO:0015562 "Orphanet:1597" -MONDO:0015562 "ICD10:Q93.5" +MONDO:0015562 "ICD10CM:Q93.5" NCBITaxon:147550 "GC_ID:1" MONDO:0021119 "UMLS:C2986656" MONDO:0021119 "NCIT:C94760" @@ -96774,6 +94364,7 @@ MONDO:0015972 "Orphanet:183651" MONDO:0044137 "UMLS:C0155365" MONDO:0044137 "ICD9:379.29" MONDO:0044137 "SCTID:76682005" +MONDO:0044137 "ICD10CM:H43-H44" MONDO:0044137 "NCIT:C45256" MONDO:0044137 "EFO:0008624" MONDO:0001507 "UMLS:C0155508" @@ -96793,8 +94384,8 @@ MONDO:0012619 "OMIM:611097" MONDO:0012619 "MESH:C567012" MONDO:0012619 "UMLS:C1970193" MONDO:0007226 "MESH:C566192" +MONDO:0007226 "ICD10CM:Q87.8" MONDO:0007226 "ICD9:759.89" -MONDO:0007226 "ICD10:Q87.8" MONDO:0007226 "SCTID:205828009" MONDO:0007226 "Orphanet:1246" MONDO:0007226 "GARD:0000881" @@ -96803,9 +94394,9 @@ MONDO:0007226 "OMIM:113400" CL:1000487 "FMA:84583" MONDO:0100115 "NCIT:C128379" MONDO:0013778 "UMLS:C1840391" -MONDO:0013778 "ICD10:I15.1" MONDO:0013778 "OMIM:614492" MONDO:0013778 "Orphanet:757" +MONDO:0013778 "ICD10CM:I15.1" MONDO:0013778 "Orphanet:88940" MONDO:0013778 "MESH:C564162" NCBITaxon:10376 "GC_ID:1" @@ -96831,7 +94422,7 @@ MONDO:0017377 "GARD:0004304" MONDO:0017377 "UMLS:C2931655" MONDO:0017377 "SCTID:733088002" MONDO:0017377 "MESH:C537888" -MONDO:0017377 "ICD10:Q87.2" +MONDO:0017377 "ICD10CM:Q87.2" MONDO:0017377 "Orphanet:2921" MONDO:0008258 "MESH:C566796" MONDO:0008258 "UMLS:C1868199" @@ -96841,20 +94432,19 @@ MONDO:0004014 "UMLS:C1333475" MONDO:0004014 "DOID:6854" MONDO:0018323 "OMIM:300438" MONDO:0018323 "UMLS:CN204975" -MONDO:0018323 "ICD10:E72.8" +MONDO:0018323 "ICD10CM:E72.8" MONDO:0018323 "Orphanet:391457" MONDO:0006214 "NCIT:C126594" MONDO:0006214 "EFO:1000261" MONDO:0006214 "UMLS:C3714651" MONDO:0022739 "GARD:0001315" -MONDO:0014382 "ICD10:Q87.3" MONDO:0014382 "OMIM:615879" MONDO:0014382 "SCTID:768843007" MONDO:0014382 "UMLS:C4014545" MONDO:0014382 "Orphanet:404443" +MONDO:0014382 "ICD10CM:Q87.3" NCBITaxon:2547934 "GC_ID:1" HP:0012145 "UMLS:C4023024" -MONDO:0015385 "ICD10:Q16.1" MONDO:0015385 "OMIM:108760" MONDO:0015385 "OMIM:607842" MONDO:0015385 "Orphanet:141074" @@ -96862,7 +94452,6 @@ MONDO:0019976 "SCTID:230283005" MONDO:0019976 "UMLS:CN206907" MONDO:0019976 "MESH:D020208" MONDO:0019976 "Orphanet:97353" -MONDO:0019976 "ICD10:F01.8" MONDO:0018779 "UMLS:CN776841" MONDO:0018779 "Orphanet:476403" NCBITaxon:1502 "PMID:184898" @@ -96872,15 +94461,14 @@ MONDO:0008573 "OMIM:188800" MONDO:0008573 "MESH:C566045" MONDO:0008573 "UMLS:C1861097" MONDO:0001713 "SCTID:28975000" -MONDO:0001713 "ICD10:D61.0" MONDO:0001713 "UMLS:C0949116" MONDO:0001713 "ICD9:284.09" MONDO:0001713 "DOID:1342" MONDO:0001713 "Orphanet:68383" MONDO:0001713 "UMLS:C0702159" MONDO:0001713 "GARD:0006149" -MONDO:0001713 "ICD10:D61.01" MONDO:0001713 "MESH:D029502" +MONDO:0001713 "ICD10CM:D61.0" MONDO:0001713 "ICD9:284.0" HP:0100033 "UMLS:C2169806" MONDO:0014686 "OMIM:616541" @@ -96890,16 +94478,16 @@ MONDO:0014265 "UMLS:C3810041" MONDO:0014265 "DOID:0110050" MONDO:0015564 "NCIT:C3056" MONDO:0015564 "MedDRA:10050251" -MONDO:0015564 "ICD10:D47.Z2" MONDO:0015564 "GARD:0012656" MONDO:0015564 "DOID:0111157" MONDO:0015564 "UMLS:CN199886" -MONDO:0015564 "ICD10:D47.4" MONDO:0015564 "UMLS:C2931179" MONDO:0015564 "Orphanet:160" MONDO:0015564 "GARD:0000673" MONDO:0015564 "EFO:1001332" +MONDO:0015564 "ICD10CM:D47.4" MONDO:0015564 "SCTID:207036003" +MONDO:0015564 "ICD10CM:D47.Z2" MONDO:0015564 "UMLS:C0017531" MONDO:0015564 "OMIM:148000" HP:0000978 "SNOMEDCT_US:302227002" @@ -96911,10 +94499,10 @@ HP:0000978 "SNOMEDCT_US:77643000" HP:0000978 "MSH:D004438" MONDO:0018616 "ICD9:362.41" MONDO:0018616 "UMLS:C0730328" -MONDO:0018616 "Orphanet:443079" MONDO:0018616 "SCTID:312956001" -MONDO:0018616 "ICD10:H35.7" +MONDO:0018616 "Orphanet:443079" MONDO:0018616 "GARD:0000200" +MONDO:0018616 "ICD10CM:H35.7" MONDO:0018616 "MESH:D056833" MONDO:0018616 "NCIT:C115124" HP:0001924 "SNOMEDCT_US:41841004" @@ -96945,34 +94533,34 @@ MONDO:0012116 "UMLS:C4275024" MONDO:0012116 "GARD:0004956" MONDO:0012116 "UMLS:C1837454" MONDO:0012116 "Orphanet:98760" -MONDO:0012116 "ICD10:G11.2" -MONDO:0020108 "ICD10:D59.1" +MONDO:0012116 "ICD10CM:G11.2" MONDO:0020108 "UMLS:C0002880" MONDO:0020108 "ICD9:283.0" +MONDO:0020108 "ICD10CM:D59.0" MONDO:0020108 "NCIT:C34378" -MONDO:0020108 "ICD10:D59.0" MONDO:0020108 "OMIM:205700" MONDO:0020108 "DOID:718" MONDO:0020108 "Orphanet:98375" MONDO:0020108 "SCTID:413603009" MONDO:0020108 "GARD:0005870" MONDO:0020108 "EFO:1001264" +MONDO:0020108 "ICD10CM:D59.1" MONDO:0020108 "MedDRA:10002046" MONDO:0020108 "MESH:D000744" MONDO:0020108 "CSP:0427-1178" MONDO:0009155 "SCTID:720856002" -MONDO:0009155 "ICD10:Q87.8" MONDO:0009155 "MESH:C536190" MONDO:0009155 "DOID:0111649" MONDO:0009155 "Orphanet:1897" MONDO:0009155 "OMIM:225280" MONDO:0009155 "GARD:0002078" +MONDO:0009155 "ICD10CM:Q87.8" MONDO:0015751 "SCTID:720815000" MONDO:0015751 "Orphanet:171839" -MONDO:0015751 "ICD10:Q87.8" +MONDO:0015751 "ICD10CM:Q87.8" MONDO:0015751 "UMLS:C3267187" MONDO:0020497 "Orphanet:99818" -MONDO:0020497 "ICD10:D12.6" +MONDO:0020497 "ICD10CM:D12.6" MONDO:0020497 "UMLS:CN207386" MONDO:0020497 "OMIM:175100" MONDO:0006518 "EFO:1000656" @@ -96988,10 +94576,10 @@ MONDO:0023873 "OMIM:163955" MONDO:0023873 "GARD:0004006" MONDO:0008948 "SCTID:63246000" MONDO:0008948 "DOID:4810" +MONDO:0008948 "ICD10CM:E75.5" MONDO:0008948 "NCIT:C84628" MONDO:0008948 "MESH:D019294" MONDO:0008948 "Orphanet:909" -MONDO:0008948 "ICD10:E75.5" MONDO:0008948 "GARD:0005622" MONDO:0008948 "OMIM:213700" MONDO:0008948 "UMLS:C0238052" @@ -97006,10 +94594,9 @@ MONDO:0013557 "Orphanet:231512" MONDO:0008831 "Orphanet:474" MONDO:0008831 "OMIM:208500" MONDO:0008831 "DOID:0110085" -MONDO:0008831 "ICD10:Q77.2" MONDO:0008831 "UMLS:CN119532" MONDO:0008831 "UMLS:C0265275" -MONDO:0012808 "ICD10:I42.0" +MONDO:0012808 "ICD10CM:I42.0" MONDO:0012808 "DOID:0110428" MONDO:0012808 "MESH:C567407" MONDO:0012808 "OMIM:612158" @@ -97017,8 +94604,8 @@ MONDO:0012808 "UMLS:C2677338" MONDO:0009342 "SCTID:721221000" MONDO:0009342 "Orphanet:2155" MONDO:0009342 "GARD:0000157" +MONDO:0009342 "ICD10CM:Q43.1" MONDO:0009342 "OMIM:235740" -MONDO:0009342 "ICD10:Q43.1" MONDO:0009342 "MESH:C565518" MONDO:0000273 "DOID:0050174" MONDO:0021726 "UMLS:C2930929" @@ -97036,7 +94623,7 @@ MONDO:0021303 "UMLS:C1302392" MONDO:0021303 "SCTID:399422005" MONDO:0021303 "NCIT:C5340" MONDO:0020529 "Orphanet:99893" -MONDO:0020529 "ICD10:E24.8" +MONDO:0020529 "ICD10CM:E24.8" MONDO:0020529 "UMLS:CN207429" HP:0001254 "SNOMEDCT_US:214264003" HP:0001254 "UMLS:C0023380" @@ -97058,20 +94645,15 @@ MONDO:0056816 "UMLS:C4288002" MONDO:0022790 "GARD:0001395" MONDO:0005821 "EFO:0007339" MONDO:0005821 "SCTID:82323002" -MONDO:0005821 "ICD10:A50.59" -MONDO:0005821 "ICD10:A50.40" MONDO:0005821 "DOID:10039" MONDO:0005821 "ICD9:090.4" MONDO:0005821 "ICD9:090.7" MONDO:0005821 "ICD9:090.40" -MONDO:0005821 "ICD10:A50.4" -MONDO:0005821 "ICD10:A50.5" MONDO:0005821 "ICD9:090.5" NCBITaxon:2732551 "GC_ID:1" MONDO:0032777 "OMIM:618482" MONDO:0032777 "DOID:0111296" MONDO:0002727 "UMLS:C0751937" -MONDO:0002727 "ICD10:G52.0" MONDO:0002727 "MESH:D020431" MONDO:0002727 "SCTID:68982002" MONDO:0002727 "ICD9:352.0" @@ -97089,7 +94671,6 @@ MONDO:0011270 "UMLS:C1864472" MONDO:0011270 "OMIM:602759" MONDO:0011270 "MESH:C566426" NCBITaxon:5864 "GC_ID:1" -MONDO:0001150 "ICD10:G91.9" MONDO:0001150 "DOID:10908" MONDO:0001150 "Orphanet:2182" MONDO:0001150 "OMIM:307000" @@ -97097,13 +94678,13 @@ MONDO:0001150 "NCIT:C3111" MONDO:0001150 "OMIM:123155" MONDO:0001150 "OMIM:236600" MONDO:0001150 "OMIM:236635" +MONDO:0001150 "ICD10CM:G91" MONDO:0001150 "SCTID:230745008" MONDO:0001150 "MESH:D006849" MONDO:0001150 "OMIM:615219" MONDO:0001150 "Orphanet:2185" -MONDO:0001150 "ICD10:G91" MONDO:0017546 "Orphanet:295201" -MONDO:0017546 "ICD10:Q66.8" +MONDO:0017546 "ICD10CM:Q66.8" NCBITaxon:2697049 "GC_ID:1" MONDO:0045068 "UMLS:C1334769" MONDO:0045068 "NCIT:C5936" @@ -97116,7 +94697,6 @@ MONDO:0012086 "MESH:C563888" MONDO:0012086 "OMIM:608645" MONDO:0012086 "DOID:0110561" MONDO:0012086 "UMLS:C1837617" -MONDO:0012086 "ICD10:H90.3" MONDO:0000769 "DOID:0060492" MONDO:0016437 "Orphanet:228227" MONDO:0011209 "UMLS:C1865699" @@ -97124,7 +94704,6 @@ MONDO:0011209 "OMIM:602249" MONDO:0011209 "MESH:C566563" MONDO:0001715 "ICD9:433.0" MONDO:0001715 "DOID:13446" -MONDO:0001715 "ICD10:I65.1" MONDO:0001715 "SCTID:195180004" MONDO:0001715 "ICD9:433.00" MONDO:0001715 "ICD9:433.01" @@ -97143,10 +94722,10 @@ MONDO:0003307 "NCIT:C6559" MONDO:0003307 "UMLS:C1334828" MONDO:0003307 "DOID:5155" MONDO:0018987 "MESH:D058890" -MONDO:0018987 "ICD10:N61" MONDO:0018987 "GARD:0013119" MONDO:0018987 "UMLS:C0405469" MONDO:0018987 "Orphanet:64722" +MONDO:0018987 "ICD10CM:N61" MONDO:0018987 "SCTID:237444008" MONDO:0009825 "SCTID:26132002" MONDO:0009825 "GARD:0005681" @@ -97154,19 +94733,19 @@ MONDO:0009825 "MESH:C535322" MONDO:0009825 "OMIM:260005" MONDO:0009825 "ICD9:270.8" MONDO:0009825 "HP:0040142" -MONDO:0009825 "ICD10:E72.8" MONDO:0009825 "UMLS:C0268525" MONDO:0009825 "Orphanet:33572" +MONDO:0009825 "ICD10CM:E72.8" NCBITaxon:5498 "GC_ID:1" -MONDO:0018128 "ICD10:M89.5" MONDO:0018128 "Orphanet:352636" +MONDO:0018128 "ICD10CM:M89.5" MONDO:0018128 "UMLS:CN204506" MONDO:0014851 "UMLS:CN847585" MONDO:0014851 "UMLS:CN262351" MONDO:0014851 "UMLS:CN774236" MONDO:0014851 "UMLS:C4310473" MONDO:0014851 "OMIM:616963" -MONDO:0017839 "ICD10:E25.0" +MONDO:0017839 "ICD10CM:E25.0" MONDO:0017839 "Orphanet:315306" MONDO:0017041 "UMLS:CN202358" MONDO:0017041 "SCTID:722108000" @@ -97174,18 +94753,16 @@ MONDO:0017041 "Orphanet:2653" MONDO:0000956 "DOID:10154" MONDO:0000956 "ICD9:152.9" MONDO:0000956 "UMLS:C0153425" -MONDO:0000956 "ICD10:C17" MONDO:0000956 "GARD:0009385" MONDO:0000956 "NCIT:C7523" -MONDO:0000956 "ICD10:C17.9" MONDO:0016624 "Orphanet:248296" MONDO:0009005 "Orphanet:169147" MONDO:0009005 "OMIM:216950" MONDO:0009005 "NCIT:C119991" MONDO:0009005 "UMLS:C3150274" -MONDO:0015601 "ICD10:Q87.8" MONDO:0015601 "OMIM:301030" MONDO:0015601 "SCTID:718914002" +MONDO:0015601 "ICD10CM:Q87.8" MONDO:0015601 "Orphanet:163976" MONDO:0015601 "UMLS:CN226711" MONDO:0004339 "UMLS:C1336829" @@ -97197,7 +94774,6 @@ MONDO:0010102 "MESH:C536945" MONDO:0010102 "Orphanet:2731" MONDO:0010102 "OMIM:272980" MONDO:0007092 "MESH:C562879" -MONDO:0007092 "ICD10:K00.5" MONDO:0007092 "Orphanet:100031" MONDO:0007092 "ICD9:520.5" MONDO:0007092 "DOID:0110052" @@ -97217,20 +94793,19 @@ MONDO:0035892 "Orphanet:94091" MONDO:0002224 "DOID:2145" MONDO:0002224 "NCIT:C3843" MONDO:0002224 "UMLS:C0235770" +MONDO:0019813 "ICD10CM:Q22.4" MONDO:0019813 "MedDRA:10010656" -MONDO:0019813 "ICD10:Q22.4" MONDO:0019813 "SCTID:36233006" MONDO:0019813 "Orphanet:95459" MONDO:0006906 "Orphanet:66627" MONDO:0006906 "DOID:2702" MONDO:0006906 "ICD9:719.20" -MONDO:0006906 "ICD10:M12.20" MONDO:0006906 "UMLS:C0039106" +MONDO:0006906 "ICD10CM:M12.2" MONDO:0006906 "MESH:D013586" MONDO:0006906 "SCTID:95412009" MONDO:0006906 "DOID:9898" MONDO:0006906 "EFO:1001106" -MONDO:0006906 "ICD10:M12.2" MONDO:0006906 "GARD:0007396" MONDO:0006906 "ICD9:719.28" MONDO:0006906 "ICD9:719.2" @@ -97251,7 +94826,6 @@ HP:0000815 "MSH:D007006" HP:0000815 "SNOMEDCT_US:370999003" HP:0000815 "UMLS:C0948896" MONDO:0013722 "DOID:0060797" -MONDO:0013722 "ICD10:G11.1" MONDO:0013722 "UMLS:C3280644" MONDO:0013722 "OMIM:614381" MONDO:0013722 "Orphanet:88637" @@ -97265,7 +94839,7 @@ MONDO:0015270 "OMIM:617936" MONDO:0054637 "OMIM:607721" MONDO:0019429 "UMLS:CN206187" MONDO:0019429 "SCTID:718847005" -MONDO:0019429 "ICD10:G31.8" +MONDO:0019429 "ICD10CM:G31.8" MONDO:0019429 "Orphanet:85336" MONDO:0003665 "UMLS:C1332913" MONDO:0003665 "EFO:1000164" @@ -97275,7 +94849,6 @@ MONDO:0003665 "NCIT:C6343" MONDO:0004184 "SCTID:4985009" MONDO:0004184 "UMLS:C0041969" MONDO:0004184 "DOID:732" -MONDO:0004184 "ICD10:N36.9" MONDO:0004184 "NCIT:C26903" MONDO:0004184 "MESH:D014522" MONDO:0011073 "Orphanet:99886" @@ -97283,6 +94856,7 @@ MONDO:0011073 "SCTID:609579009" MONDO:0011073 "OMIM:601410" MONDO:0011073 "MESH:C563322" MONDO:0010784 "OMIM:515000" +MONDO:0006037 "ICD10CM:Q87.8" MONDO:0006037 "Orphanet:2189" MONDO:0006037 "SCTID:721232000" MONDO:0006037 "UMLS:C2931104" @@ -97290,7 +94864,6 @@ MONDO:0006037 "OMIM:236680" MONDO:0006037 "OMIM:614120" MONDO:0006037 "GARD:0006683" MONDO:0006037 "MESH:C536079" -MONDO:0006037 "ICD10:Q87.8" MONDO:0006037 "EFO:1000033" MONDO:0006037 "OMIMPS:236680" MONDO:0006037 "DOID:0050779" @@ -97304,22 +94877,21 @@ MONDO:0009413 "OMIM:240500" MONDO:0009413 "Orphanet:1572" MONDO:0009413 "UMLS:C3150354" MONDO:0018989 "SCTID:197458008" -MONDO:0018989 "ICD10:K85.2" +MONDO:0018989 "ICD10CM:K85.2" +MONDO:0018989 "ICD10CM:K85.9" MONDO:0018989 "Orphanet:64740" -MONDO:0018989 "ICD10:K85.9" +MONDO:0018989 "ICD10CM:K85.8" MONDO:0018989 "MedDRA:10033657" +MONDO:0018989 "ICD10CM:K85.1" MONDO:0018989 "UMLS:C0267937" -MONDO:0018989 "ICD10:K85.1" -MONDO:0018989 "ICD10:K85.3" -MONDO:0018989 "ICD10:K85.8" -MONDO:0018989 "ICD10:K85.0" +MONDO:0018989 "ICD10CM:K85.3" +MONDO:0018989 "ICD10CM:K85.0" MONDO:0013076 "OMIM:613003" MONDO:0000548 "NCIT:C40077" MONDO:0000548 "DOID:0050934" MONDO:0000548 "UMLS:C1518230" MONDO:0010510 "OMIM:300984" MONDO:0010510 "UMLS:C4310816" -MONDO:0018872 "ICD10:C94.2" MONDO:0018872 "ICD9:207.2" MONDO:0018872 "DOID:8761" MONDO:0018872 "Wikipedia:Acute_megakaryoblastic_leukemia" @@ -97330,27 +94902,25 @@ MONDO:0018872 "MedDRA:C0023462" MONDO:0018872 "ONCOTREE:AMKL" MONDO:0018872 "MESH:D007947" MONDO:0018872 "GARD:0000524" +MONDO:0018872 "ICD10CM:C94.2" MONDO:0018872 "ICDO:9910/3" MONDO:0018872 "UMLS:C0023462" MONDO:0018872 "NCIT:C3170" -MONDO:0018872 "ICD10:C94.20" MONDO:0044629 "Orphanet:488586" MONDO:0001883 "UMLS:C0242645" MONDO:0001883 "DOID:14121" MONDO:0001883 "MESH:D018438" MONDO:0000958 "ICD9:363.05" MONDO:0000958 "UMLS:C0154874" -MONDO:0000958 "ICD10:H30.9" MONDO:0000958 "DOID:10176" MONDO:0032779 "OMIM:618492" +MONDO:0014304 "ICD10CM:G11.4" MONDO:0014304 "UMLS:C4511962" MONDO:0014304 "SCTID:726611001" MONDO:0014304 "UMLS:C3810294" -MONDO:0014304 "ICD10:G11.4" MONDO:0014304 "Orphanet:401780" MONDO:0014304 "DOID:0110812" MONDO:0014304 "OMIM:615685" -MONDO:0001904 "ICD10:G62.0" MONDO:0001904 "UMLS:C0154762" MONDO:0001904 "SCTID:7339009" MONDO:0001904 "DOID:14184" @@ -97370,10 +94940,10 @@ MONDO:0011951 "Orphanet:275872" MONDO:0011951 "OMIM:608030" NCBITaxon:41687 "GC_ID:1" PO:0025606 "PO_GIT:586" -MONDO:0044816 "SCTID:230318005" -MONDO:0044816 "NCIT:C35437" MONDO:0010493 "OMIM:300946" MONDO:0010493 "UMLS:C4225422" +MONDO:0044816 "SCTID:230318005" +MONDO:0044816 "NCIT:C35437" MONDO:0024455 "OMIM:180700" MONDO:0024455 "Orphanet:97360" MONDO:0024455 "DOID:0060766" @@ -97388,9 +94958,8 @@ MONDO:0008082 "DOID:10016" MONDO:0008082 "MedDRA:10056420" MONDO:0008082 "ICD9:237.4" MONDO:0008082 "NCIT:C3227" +MONDO:0008082 "ICD10CM:D44.8" MONDO:0008082 "ICD9:258.03" -MONDO:0008082 "ICD10:D44.8" -MONDO:0008082 "ICD10:E31.23" MONDO:0008082 "OMIM:162300" MONDO:0008082 "UMLS:C0025269" MONDO:0008082 "GARD:0010225" @@ -97402,23 +94971,21 @@ MONDO:0007281 "Orphanet:98990" MONDO:0007281 "DOID:0110234" MONDO:0007281 "Orphanet:98989" MONDO:0007281 "Orphanet:98991" -MONDO:0007281 "ICD10:Q12.0" MONDO:0007281 "Orphanet:98995" MONDO:0007281 "OMIM:115700" +MONDO:0010680 "ICD10CM:G71.0" MONDO:0010680 "Orphanet:98863" MONDO:0010680 "DOID:0070246" MONDO:0010680 "Orphanet:261" MONDO:0010680 "GARD:0002102" MONDO:0010680 "UMLS:CN069573" -MONDO:0010680 "OMIM:300696" MONDO:0010680 "OMIM:310300" MONDO:0010680 "UMLS:C0751337" -MONDO:0010680 "ICD10:G71.0" +MONDO:0010680 "OMIM:300696" MONDO:0010680 "NCIT:C168730" MONDO:0024642 "NCIT:C95880" MONDO:0024642 "UMLS:C3272407" MONDO:0012533 "OMIM:610676" -MONDO:0007844 "ICD10:E23.0" MONDO:0007844 "GARD:0003070" MONDO:0007844 "OMIM:147950" MONDO:0007844 "UMLS:C1563720" @@ -97434,7 +95001,6 @@ HP:0000618 "UMLS:C0456909" MONDO:0008228 "ICD9:281.0" MONDO:0008228 "NCIT:C2871" MONDO:0008228 "MESH:D000752" -MONDO:0008228 "ICD10:D51.0" MONDO:0008228 "EFO:0005576" MONDO:0008228 "UMLS:C0002892" MONDO:0008228 "Orphanet:120" @@ -97451,7 +95017,6 @@ MONDO:0014712 "UMLS:C4225263" MONDO:0014712 "OMIM:616629" MONDO:0001128 "UMLS:C0728864" MONDO:0001128 "SCTID:363422006" -MONDO:0001128 "ICD10:C30.0" MONDO:0001128 "DOID:10811" MONDO:0001128 "NCIT:C4918" MONDO:0001128 "ICD9:160.0" @@ -97466,10 +95031,10 @@ MONDO:0004504 "NCIT:C39868" MONDO:0004504 "DOID:8223" MONDO:0030065 "OMIM:618929" MONDO:0001538 "UMLS:C0162291" -MONDO:0001538 "ICD10:H35.82" MONDO:0001538 "DOID:12510" MONDO:0001538 "ICD9:362.84" MONDO:0001538 "SCTID:26468004" +MONDO:0001538 "ICD10CM:H35.82" MONDO:0006152 "UMLS:C0267392" MONDO:0006152 "EFO:1000184" MONDO:0006152 "NCIT:C5517" @@ -97481,7 +95046,6 @@ MONDO:0009669 "UMLS:C0700595" MONDO:0009669 "DOID:13137" MONDO:0009669 "ICD9:335.11" MONDO:0009669 "NCIT:C98670" -MONDO:0009669 "ICD10:G12.0" MONDO:0009669 "SCTID:64383006" MONDO:0009669 "GARD:0007883" MONDO:0009669 "OMIM:253300" @@ -97502,7 +95066,6 @@ MONDO:0015120 "UMLS:CN197477" MONDO:0013441 "DOID:0110088" MONDO:0013441 "OMIM:613819" MONDO:0013441 "UMLS:C3151185" -MONDO:0013441 "ICD10:Q77.2" MONDO:0013441 "Orphanet:474" NCBITaxon:716546 "GC_ID:1" HP:0000113 "Fyler:4508" @@ -97520,10 +95083,10 @@ MONDO:0018608 "Orphanet:441" MONDO:0018608 "MESH:D054970" MONDO:0018608 "SCTID:84438001" MONDO:0018608 "UMLS:C0393911" -MONDO:0018608 "ICD10:G90.3" MONDO:0018608 "UMLS:CN205091" MONDO:0018608 "GARD:0010428" MONDO:0018608 "UMLS:C2931939" +MONDO:0018608 "ICD10CM:G90.3" MONDO:0025431 "MESH:D007639" MONDO:0025431 "UMLS:C0022576" MONDO:0004370 "DOID:7820" @@ -97543,8 +95106,8 @@ MONDO:0003173 "UMLS:C1332608" MONDO:0003173 "SCTID:107581000119103" MONDO:0012125 "UMLS:C1837355" MONDO:0012125 "MESH:C563855" -MONDO:0012125 "ICD10:E75.2" MONDO:0012125 "Orphanet:280282" +MONDO:0012125 "ICD10CM:E75.2" MONDO:0012125 "OMIM:608804" MONDO:0012125 "DOID:0060787" MONDO:0012125 "Orphanet:280270" @@ -97557,7 +95120,7 @@ MONDO:0023171 "GARD:0002351" MONDO:0023171 "UMLS:C2931412" MONDO:0023171 "MESH:C537069" MONDO:0014882 "Orphanet:466722" -MONDO:0014882 "ICD10:G11.4" +MONDO:0014882 "ICD10CM:G11.4" MONDO:0014882 "UMLS:C4310750" MONDO:0014882 "DOID:0110822" MONDO:0014882 "OMIM:617046" @@ -97568,28 +95131,28 @@ MONDO:0008636 "MESH:C566010" MONDO:0100461 "Orphanet:436252" MONDO:0100461 "OMIM:243150" NCBITaxon:186538 "GC_ID:1" +MONDO:0016490 "ICD10CM:D58.2" MONDO:0016490 "Orphanet:231242" MONDO:0016490 "UMLS:CN201488" -MONDO:0016490 "ICD10:D58.2" MONDO:0016826 "OMIMPS:277400" MONDO:0016826 "OMIM:277410" MONDO:0016826 "GARD:0003579" -MONDO:0016826 "ICD10:E71.1" MONDO:0016826 "Orphanet:26" MONDO:0016826 "MESH:C537359" MONDO:0016826 "OMIM:277380" +MONDO:0016826 "ICD10CM:E71.1" MONDO:0016826 "OMIM:277400" MONDO:0016826 "OMIM:614857" +MONDO:0020489 "ICD10CM:E27.4" MONDO:0020489 "Orphanet:99763" -MONDO:0020489 "ICD10:E27.4" MONDO:0020489 "DOID:0080626" MONDO:0020489 "UMLS:C4289986" MONDO:0020489 "OMIM:610600" MONDO:0020489 "OMIM:203400" -MONDO:0021022 "ICD10:G25.8" MONDO:0021022 "OMIM:614619" MONDO:0021022 "OMIM:149400" MONDO:0021022 "OMIM:614618" +MONDO:0021022 "ICD10CM:G25.8" MONDO:0021022 "GARD:0003129" MONDO:0021022 "Orphanet:3197" MONDO:0021022 "SCTID:724351008" @@ -97619,16 +95182,16 @@ NCBITaxon:6267 "GC_ID:1" MONDO:0009218 "SCTID:79935000" MONDO:0009218 "NCIT:C84710" MONDO:0009218 "ICD9:272.8" -MONDO:0009218 "ICD10:E75.2" MONDO:0009218 "DOID:0050464" MONDO:0009218 "GARD:0006426" MONDO:0009218 "UMLS:C0268255" +MONDO:0009218 "ICD10CM:E75.2" MONDO:0009218 "OMIM:228000" MONDO:0009218 "MESH:D055577" MONDO:0009218 "UMLS:CN204335" MONDO:0009218 "Orphanet:333" +MONDO:0020161 "ICD10CM:Q10.1" MONDO:0020161 "SCTID:26590002" -MONDO:0020161 "ICD10:Q10.1" MONDO:0020161 "Orphanet:98570" MONDO:0013937 "Orphanet:772" MONDO:0013937 "Orphanet:44" @@ -97640,7 +95203,6 @@ MONDO:0000265 "UMLS:C0085740" MONDO:0000265 "DOID:0050152" MONDO:0000265 "HP:0011951" MONDO:0000265 "MESH:D011015" -MONDO:0000265 "ICD10:J69.0" MONDO:0000265 "SCTID:422588002" NCBITaxon:11320 "GC_ID:1" MONDO:0002118 "ICD9:V47.4" @@ -97648,18 +95210,17 @@ MONDO:0002118 "UMLS:C1335051" MONDO:0002118 "MESH:D014570" MONDO:0002118 "SCTID:128606002" MONDO:0002118 "NCIT:C3430" +MONDO:0002118 "ICD10CM:N30-N39" MONDO:0002118 "DOID:18" MONDO:0012768 "UMLS:C2677773" MONDO:0012768 "MESH:C567449" MONDO:0012768 "OMIM:611955" +MONDO:0020538 "ICD10CM:C56" MONDO:0020538 "Orphanet:99912" -MONDO:0020538 "ICD10:C56" MONDO:0020538 "UMLS:CN207439" CL:1001610 "CALOHA:TS-2109" MONDO:0010354 "OMIM:300523" MONDO:0010354 "Orphanet:280270" -MONDO:0010354 "ICD10:G31.8" -MONDO:0010354 "ICD10:E03.1" MONDO:0010354 "DOID:0050631" MONDO:0010354 "GARD:0005617" MONDO:0010354 "NCIT:C118843" @@ -97667,6 +95228,7 @@ MONDO:0010354 "Orphanet:59" MONDO:0010354 "SCTID:702327009" MONDO:0010354 "UMLS:C0795889" MONDO:0010354 "MESH:C537047" +MONDO:0010354 "ICD10CM:E03.1" MONDO:0014170 "DOID:0090134" MONDO:0014170 "OMIM:615411" MONDO:0014170 "UMLS:C3809414" @@ -97676,25 +95238,26 @@ NCBITaxon:8782 "GC_ID:1" MONDO:0016997 "Orphanet:263676" MONDO:0018695 "DOID:4492" MONDO:0018695 "SCTID:55604004" -MONDO:0018695 "ICD10:J09" +MONDO:0018695 "ICD10CM:J09" MONDO:0018695 "Orphanet:454836" MONDO:0018695 "EFO:0005222" -MONDO:0018695 "ICD10:J09.X" MONDO:0018695 "MESH:D005585" MONDO:0018695 "UMLS:CN237762" MONDO:0018695 "UMLS:C0016627" -MONDO:0016114 "ICD10:G12.2" +MONDO:0016114 "ICD10CM:G12.2" MONDO:0016114 "Orphanet:206704" MONDO:0007142 "Orphanet:857" MONDO:0007142 "NCIT:C99085" MONDO:0007142 "UMLS:CN034849" -MONDO:0007142 "ICD10:Q87.8" +MONDO:0007142 "OMIM:617466" MONDO:0007142 "GARD:0007784" MONDO:0007142 "ICD9:759.89" +MONDO:0007142 "OMIM:107480" MONDO:0007142 "DOID:0050887" MONDO:0007142 "SCTID:24750000" MONDO:0007142 "MESH:C536974" MONDO:0007142 "OMIMPS:107480" +MONDO:0007142 "ICD10CM:Q87.8" MONDO:0007142 "UMLS:C0265246" MONDO:0003867 "DOID:6379" MONDO:0003867 "NCIT:C6890" @@ -97712,7 +95275,6 @@ MONDO:0011756 "Orphanet:3156" MONDO:0011756 "MESH:C537581" MONDO:0011756 "OMIM:606996" MONDO:0010986 "OMIM:601071" -MONDO:0010986 "ICD10:H90.3" MONDO:0010986 "DOID:0110535" MONDO:0020725 "ICD9:285.29" MONDO:0020725 "NCIT:C35659" @@ -97730,7 +95292,7 @@ MONDO:0044986 "SCTID:111590001" MONDO:0033492 "UMLS:CN696018" MONDO:0033492 "OMIM:617808" MONDO:0033492 "DOID:0080297" -MONDO:0016082 "ICD10:Q87.8" +MONDO:0016082 "ICD10CM:Q87.8" MONDO:0016082 "UMLS:CN226834" MONDO:0016082 "Orphanet:2042" HP:0012115 "MSH:D006505" @@ -97738,24 +95300,22 @@ HP:0012115 "UMLS:C0019158" HP:0012115 "SNOMEDCT_US:128241005" MONDO:0015355 "OMIM:607641" MONDO:0015355 "Orphanet:139589" +MONDO:0015355 "ICD10CM:G12.2" MONDO:0015355 "UMLS:CN199425" -MONDO:0015355 "ICD10:G12.2" MONDO:0015355 "OMIM:158580" MONDO:0015355 "DOID:0111199" MONDO:0017555 "Orphanet:295219" -MONDO:0017555 "ICD10:Q74.0" +MONDO:0017555 "ICD10CM:Q74.0" MONDO:0017555 "UMLS:CN203291" MONDO:0016301 "GARD:0001544" MONDO:0016301 "MESH:C535426" MONDO:0016301 "ICD9:745.12" MONDO:0016301 "UMLS:C3274488" -MONDO:0016301 "ICD10:Q20.5" MONDO:0016301 "NCIT:C98902" MONDO:0016301 "Orphanet:216694" MONDO:0016301 "SCTID:83799000" MONDO:0016301 "MedDRA:10011120" MONDO:0019111 "OMIM:187950" -MONDO:0019111 "ICD10:D75.2" MONDO:0019111 "OMIM:601977" MONDO:0019111 "SCTID:720950009" MONDO:0019111 "Orphanet:71493" @@ -97767,6 +95327,7 @@ MONDO:0005039 "UMLS:C0178829" MONDO:0005039 "DOID:15" MONDO:0005039 "Wikipedia:Reproductive_system_disease" MONDO:0005039 "SCTID:362968007" +MONDO:0005039 "ICD10CM:Q50-Q56" MONDO:0005039 "NCIT:C4875" MONDO:0005039 "EFO:0000512" HP:0006517 "SNOMEDCT_US:10501004" @@ -97775,12 +95336,11 @@ HP:0006517 "UMLS:C0034050" NCBITaxon:39054 "GC_ID:1" HP:0011356 "UMLS:C4023402" MONDO:0012901 "Orphanet:749" +MONDO:0012901 "ICD10CM:D68.8" MONDO:0012901 "OMIM:612423" MONDO:0012901 "ICD9:286.9" -MONDO:0012901 "ICD10:D68.8" MONDO:0012901 "MESH:C562725" MONDO:0012901 "GARD:0004477" -MONDO:0011075 "ICD10:H35.5" MONDO:0011075 "DOID:0110356" MONDO:0011075 "GARD:0010392" MONDO:0011075 "MESH:C563320" @@ -97804,44 +95364,43 @@ MONDO:0006092 "UMLS:C1332329" MONDO:0006092 "EFO:1000093" MONDO:0006092 "NCIT:C5512" NCBITaxon:447134 "GC_ID:1" -MONDO:0019618 "ICD10:E23.0" MONDO:0019618 "Orphanet:91355" MONDO:0019618 "NCIT:C35300" MONDO:0019618 "MedDRA:10036297" MONDO:0019618 "UMLS:C0242342" MONDO:0019618 "GARD:0007630" MONDO:0019618 "DOID:9476" +MONDO:0019618 "ICD10CM:E23.0" MONDO:0019618 "SCTID:290653008" MONDO:0043083 "MESH:C536445" MONDO:0043083 "UMLS:C2931194" MONDO:0043083 "GARD:0001532" -MONDO:0011262 "ICD10:Q87.0" MONDO:0011262 "OMIM:602612" MONDO:0011262 "MESH:C535876" MONDO:0011262 "GARD:0000216" MONDO:0011262 "UMLS:C1865133" MONDO:0011262 "Orphanet:1323" MONDO:0011262 "SCTID:715986009" +MONDO:0008281 "OMIM:175400" +MONDO:0008281 "UMLS:C1868006" MONDO:0002396 "DOID:2698" MONDO:0002396 "ICDO:8965/0" MONDO:0002396 "NCIT:C39812" MONDO:0002396 "UMLS:C1266141" -MONDO:0008281 "OMIM:175400" -MONDO:0008281 "UMLS:C1868006" HP:0000777 "SNOMEDCT_US:93297002" HP:0000777 "UMLS:C0262650" HP:0000777 "UMLS:C0685891" MONDO:0005772 "SCTID:13969006" MONDO:0005772 "MESH:D005847" -MONDO:0005772 "ICD10:B48.3" MONDO:0005772 "DOID:2832" MONDO:0005772 "EFO:0007284" MONDO:0005772 "ICD9:117.9" MONDO:0005772 "UMLS:C0017455" +MONDO:0005772 "ICD10CM:B48.3" +MONDO:0004719 "ICD10CM:C05.0" MONDO:0004719 "SCTID:363387004" MONDO:0004719 "NCIT:C3528" MONDO:0004719 "DOID:9149" -MONDO:0004719 "ICD10:C05.0" MONDO:0004719 "UMLS:C0153375" MONDO:0004719 "ICD9:145.2" MONDO:0016429 "SCTID:766246000" @@ -97853,7 +95412,6 @@ MONDO:0001591 "ICD9:374.01" MONDO:0013529 "Orphanet:3286" MONDO:0013529 "UMLS:C3151463" MONDO:0013529 "DOID:0060677" -MONDO:0013529 "ICD10:I47.2" MONDO:0013529 "OMIM:614021" MONDO:0002233 "DOID:217" MONDO:0002233 "ICD9:521.01" @@ -97866,14 +95424,12 @@ NCBITaxon:745 "PMID:1736960" NCBITaxon:745 "GC_ID:11" MONDO:0019805 "NCIT:C113824" MONDO:0019805 "MESH:D005330" -MONDO:0019805 "ICD10:O43.029" +MONDO:0019805 "ICD10CM:O43.0" MONDO:0019805 "Orphanet:95431" MONDO:0019805 "UMLS:CN206761" MONDO:0019805 "SCTID:13404009" -MONDO:0019805 "ICD10:O43.0" MONDO:0019805 "GARD:0000325" MONDO:0019805 "DOID:13576" -MONDO:0019805 "ICD10:O43.02" MONDO:0019805 "MedDRA:10058328" MONDO:0019805 "EFO:1001221" MONDO:0021499 "NCIT:C4955" @@ -97881,7 +95437,6 @@ MONDO:0021499 "SCTID:92050000" MONDO:0017104 "Orphanet:269194" MONDO:0010589 "ICD9:759.89" MONDO:0010589 "MedDRA:10067148" -MONDO:0010589 "ICD10:Q87.1" MONDO:0010589 "GARD:0004775" MONDO:0010589 "OMIM:100050" MONDO:0010589 "OMIM:305400" @@ -97893,15 +95448,15 @@ MONDO:0020011 "Orphanet:98022" MONDO:0020654 "NCIT:C7716" MONDO:0011535 "OMIM:605289" MONDO:0011535 "MESH:C565344" -MONDO:0011535 "ICD10:Q71.6" MONDO:0011535 "DOID:0090023" MONDO:0011535 "Orphanet:2440" MONDO:0011535 "UMLS:C0265554" MONDO:0024919 "UMLS:C0012979" MONDO:0024919 "MESH:D004283" +MONDO:0019484 "ICD10CM:G40.5" MONDO:0019484 "Orphanet:86906" -MONDO:0019484 "ICD10:G40.5" MONDO:0018287 "Orphanet:371071" +MONDO:0007377 "ICD10CM:H18.5" MONDO:0007377 "SCTID:419039007" MONDO:0007377 "MESH:C537304" MONDO:0007377 "GARD:0009677" @@ -97909,7 +95464,6 @@ MONDO:0007377 "Orphanet:98962" MONDO:0007377 "DOID:0080530" MONDO:0007377 "OMIM:121900" MONDO:0007377 "UMLS:C1641846" -MONDO:0007377 "ICD10:H18.5" MONDO:0000451 "MESH:D020528" MONDO:0000451 "SCTID:428700003" MONDO:0000451 "DOID:0050784" @@ -97937,13 +95491,13 @@ HP:0001944 "UMLS:C0011175" MONDO:0044317 "OMIM:617442" MONDO:0044317 "UMLS:C4479510" MONDO:0018545 "Orphanet:431156" -MONDO:0014109 "ICD10:E77.8" MONDO:0014109 "UMLS:C3808991" MONDO:0014109 "DOID:0060728" MONDO:0014109 "OMIM:615273" MONDO:0014109 "GARD:0012315" MONDO:0014109 "SCTID:768846004" MONDO:0014109 "NCIT:C126746" +MONDO:0014109 "ICD10CM:E77.8" MONDO:0014109 "Orphanet:404454" MONDO:0010133 "UMLS:C1291299" MONDO:0010133 "SCTID:124204003" @@ -97960,25 +95514,24 @@ MONDO:0002630 "ONCOTREE:SCOS" MONDO:0002630 "DOID:3377" MONDO:0002630 "ICDO:9185/3" MONDO:0019671 "GARD:0000225" -MONDO:0019671 "ICD10:Q71.4" MONDO:0019671 "Orphanet:93321" MONDO:0019671 "ICD9:755.59" MONDO:0019671 "SCTID:48008009" +MONDO:0018474 "ICD10CM:Q93.5" MONDO:0018474 "Orphanet:412035" MONDO:0018474 "UMLS:CN237459" -MONDO:0018474 "ICD10:Q93.5" MONDO:0011758 "NCIT:C61261" MONDO:0011758 "OMIM:607014" -MONDO:0011758 "ICD10:E76.0" MONDO:0011758 "Orphanet:93473" MONDO:0011758 "GARD:0012559" MONDO:0011758 "DOID:0111390" +MONDO:0011758 "ICD10CM:E76.0" MONDO:0011758 "Orphanet:579" MONDO:0010988 "MESH:C563394" MONDO:0010988 "SCTID:720499004" MONDO:0010988 "GARD:0000756" +MONDO:0010988 "ICD10CM:Q84.8" MONDO:0010988 "Orphanet:1117" -MONDO:0010988 "ICD10:Q84.8" MONDO:0010988 "OMIM:601075" MONDO:0005595 "SCTID:405822008" MONDO:0005595 "OMIM:275355" @@ -97990,8 +95543,8 @@ MONDO:0005595 "UMLS:C0280324" MONDO:0005595 "Orphanet:494550" MONDO:0007795 "Orphanet:2491" MONDO:0007795 "GARD:0002908" -MONDO:0007795 "ICD10:Q87.8" MONDO:0007795 "OMIM:146160" +MONDO:0007795 "ICD10CM:Q87.8" MONDO:0007795 "MESH:C537155" MONDO:0007795 "UMLS:C1840335" MONDO:0009084 "SCTID:763213001" @@ -98009,7 +95562,7 @@ MONDO:0009351 "UMLS:C3495554" MONDO:0009351 "Orphanet:2168" MONDO:0009351 "GARD:0002730" MONDO:0009351 "MESH:C535328" -MONDO:0009351 "ICD10:E72.8" +MONDO:0009351 "ICD10CM:E72.8" MONDO:0008971 "UMLS:C1859147" MONDO:0008971 "GARD:0010613" MONDO:0008971 "OMIM:215050" @@ -98017,8 +95570,8 @@ MONDO:0008971 "MESH:C565855" MONDO:0044988 "SCTID:118935006" MONDO:0044988 "UMLS:C1290862" MONDO:0010825 "OMIM:600123" -MONDO:0010825 "ICD10:Q87.8" MONDO:0010825 "MESH:C563994" +MONDO:0010825 "ICD10CM:Q87.8" MONDO:0010825 "UMLS:C1838606" MONDO:0010825 "Orphanet:1352" HP:0004338 "UMLS:C4025352" @@ -98028,15 +95581,14 @@ MONDO:0021181 "UMLS:C0852077" MONDO:0021181 "DOID:2214" MONDO:0021181 "UMLS:CN226819" MONDO:0021181 "MESH:D025861" +PO:0009012 "PO_GIT:185" MONDO:0004583 "ICD9:362.34" MONDO:0004583 "UMLS:C0154840" MONDO:0004583 "SCTID:87224000" MONDO:0004583 "DOID:8482" -MONDO:0004583 "ICD10:H34.0" MONDO:0004583 "NCIT:C35193" -PO:0009012 "PO_GIT:185" MONDO:0019892 "Orphanet:96126" -MONDO:0019892 "ICD10:Q93.5" +MONDO:0019892 "ICD10CM:Q93.5" MONDO:0003386 "UMLS:C1332557" MONDO:0003386 "NCIT:C6179" MONDO:0003386 "DOID:5306" @@ -98072,16 +95624,15 @@ MONDO:0013779 "UMLS:C3281001" MONDO:0013779 "OMIM:614493" MONDO:0013779 "Orphanet:906" MONDO:0013779 "OMIM:277970" +MONDO:0006645 "ICD10CM:G62.1" MONDO:0006645 "NCIT:C26926" MONDO:0006645 "ICD9:357.5" -MONDO:0006645 "ICD10:G62.1" MONDO:0006645 "UMLS:C0085677" MONDO:0006645 "DOID:14183" MONDO:0006645 "SCTID:7916009" MONDO:0006645 "MESH:D020269" MONDO:0006645 "EFO:1000803" MONDO:0018066 "NCIT:C129718" -MONDO:0018066 "ICD10:Q97.0" MONDO:0018066 "UMLS:C0221033" MONDO:0018066 "MESH:C535318" MONDO:0018066 "SCTID:35111009" @@ -98103,10 +95654,10 @@ MONDO:0007344 "UMLS:C1861513" MONDO:0007344 "MESH:C566117" MONDO:0016750 "Orphanet:2521" MONDO:0016750 "SCTID:719394002" -MONDO:0016750 "ICD10:Q87.8" MONDO:0016750 "MESH:C535622" MONDO:0016750 "UMLS:C2930954" MONDO:0016750 "GARD:0008623" +MONDO:0016750 "ICD10CM:Q87.8" NCBITaxon:11572 "GC_ID:1" MONDO:0014383 "UMLS:C4014557" MONDO:0014383 "OMIM:615883" @@ -98116,44 +95667,44 @@ MONDO:0044138 "SCTID:95802009" MONDO:0044138 "NCIT:C50587" MONDO:0044138 "EFO:1001907" MONDO:0001508 "DOID:12358" -MONDO:0001508 "ICD10:H69.00" MONDO:0001508 "UMLS:C0155434" MONDO:0001508 "GARD:0010812" -MONDO:0001508 "ICD10:H69.0" MONDO:0001508 "SCTID:30280005" MONDO:0001508 "ICD9:381.7" -MONDO:0003620 "NCIT:C27580" -MONDO:0003620 "ICD10:G64" -MONDO:0003620 "ICD9:350-359.99" +MONDO:0001508 "ICD10CM:H69.0" +MONDO:0003620 "ICD10CM:G50-G59" MONDO:0003620 "MESH:D010523" -MONDO:0003620 "DOID:574" +MONDO:0003620 "ICD9:350-359.99" +MONDO:0003620 "ICD10CM:G60-G65" +MONDO:0003620 "NCIT:C27580" MONDO:0003620 "NCIT:C119734" +MONDO:0003620 "DOID:574" MONDO:0003620 "SCTID:42658009" MONDO:0003620 "ICD9:356.9" MONDO:0003708 "DOID:5926" MONDO:0003708 "UMLS:C1335979" MONDO:0003708 "NCIT:C5845" MONDO:0019103 "UMLS:C4304668" +MONDO:0019103 "ICD10CM:H05.2" MONDO:0019103 "Orphanet:71269" -MONDO:0019103 "ICD10:H05.2" MONDO:0019103 "SCTID:719519007" MONDO:0020656 "NCIT:C27682" MONDO:0007227 "OMIM:113450" MONDO:0007227 "Orphanet:3168" +MONDO:0007227 "ICD10CM:Q74.8" MONDO:0007227 "UMLS:C1862092" MONDO:0007227 "MESH:C537338" MONDO:0007227 "SCTID:732956000" -MONDO:0007227 "ICD10:Q74.8" MONDO:0007227 "GARD:0004869" MONDO:0019313 "SCTID:254199006" MONDO:0019313 "SCTID:399889006" -MONDO:0019313 "ICD10:Q82.0" MONDO:0019313 "DOID:0050580" MONDO:0019313 "OMIM:247440" MONDO:0019313 "OMIM:613480" MONDO:0019313 "ICD9:757.0" MONDO:0019313 "OMIM:611944" MONDO:0019313 "GARD:0007220" +MONDO:0019313 "ICD10CM:Q82.0" MONDO:0019313 "OMIM:153200" MONDO:0019313 "OMIMPS:153100" MONDO:0019313 "OMIM:153100" @@ -98173,12 +95724,12 @@ MONDO:0002949 "DOID:4292" MONDO:0002949 "UMLS:C0555191" MONDO:0002949 "NCIT:C27182" MONDO:0030261 "OMIM:619304" -MONDO:0019521 "ICD10:Q81.2" MONDO:0019521 "SCTID:725419003" MONDO:0019521 "Orphanet:89841" MONDO:0019521 "UMLS:C4511056" +MONDO:0019521 "ICD10CM:Q81.2" MONDO:0016295 "NCIT:C61257" -MONDO:0016295 "ICD10:E75.4" +MONDO:0016295 "ICD10CM:E75.4" MONDO:0016295 "OMIMPS:256730" MONDO:0016295 "SCTID:42012007" MONDO:0016295 "UMLS:C0027877" @@ -98187,12 +95738,12 @@ MONDO:0016295 "Orphanet:79262" MONDO:0016295 "GARD:0010739" MONDO:0016295 "Orphanet:216" MONDO:0018148 "Orphanet:353356" -MONDO:0018148 "ICD10:D31.2" +MONDO:0018148 "ICD10CM:D31.2" MONDO:0018148 "UMLS:CN204546" MONDO:0014983 "OMIM:617239" MONDO:0014983 "DOID:0110672" MONDO:0014983 "UMLS:C4310654" -MONDO:0017378 "ICD10:Q87.8" +MONDO:0017378 "ICD10CM:Q87.8" MONDO:0017378 "Orphanet:2925" MONDO:0017378 "UMLS:CN227120" MONDO:0008259 "UMLS:C1868193" @@ -98200,35 +95751,34 @@ MONDO:0008259 "SCTID:715219001" MONDO:0008259 "UMLS:C4275252" MONDO:0008259 "GARD:0004997" MONDO:0008259 "MESH:C566795" +MONDO:0008259 "ICD10CM:J93.1" MONDO:0008259 "OMIM:173600" -MONDO:0008259 "ICD10:J93.1" MONDO:0008259 "DOID:0080218" MONDO:0008259 "Orphanet:2903" MONDO:0004015 "NCIT:C6753" MONDO:0004015 "UMLS:C1335419" MONDO:0004015 "DOID:6856" MONDO:0018324 "Orphanet:391490" -MONDO:0018324 "ICD10:G70.0" +MONDO:0018324 "ICD10CM:G70.0" MONDO:0006215 "UMLS:C0279651" MONDO:0006215 "DOID:3500" MONDO:0006215 "EFO:1000262" MONDO:0006215 "NCIT:C9166" MONDO:0001853 "DOID:13999" MONDO:0001853 "ICD9:372.22" -MONDO:0001853 "ICD10:H10.53" MONDO:0001853 "SCTID:10813004" MONDO:0001853 "UMLS:C0155150" MONDO:0021851 "MESH:C537056" MONDO:0021851 "UMLS:C2931408" MONDO:0021851 "GARD:0000615" MONDO:0007448 "NCIT:C111885" +MONDO:0007448 "ICD10CM:L50.3" MONDO:0007448 "MESH:C536612" MONDO:0007448 "DOID:743" MONDO:0007448 "OMIM:125635" MONDO:0007448 "EFO:1000685" MONDO:0007448 "ICD9:708.3" MONDO:0007448 "GARD:0009480" -MONDO:0007448 "ICD10:L50.3" MONDO:0007448 "SCTID:402601007" MONDO:0007448 "SCTID:7632005" MONDO:0043797 "MESH:D013119" @@ -98237,35 +95787,33 @@ MONDO:0043797 "Orphanet:90058" MONDO:0043797 "SCTID:90584004" MONDO:0006519 "NCIT:C7418" MONDO:0006519 "ICD9:154.1" -MONDO:0006519 "ICD10:C20" MONDO:0006519 "SCTID:363351006" MONDO:0006519 "DOID:1993" MONDO:0006519 "EFO:1000657" MONDO:0006519 "SCTID:254582000" MONDO:0006519 "MESH:D012004" MONDO:0008574 "OMIM:188850" -MONDO:0016366 "ICD10:E70.1" MONDO:0016366 "GARD:0003413" MONDO:0016366 "Orphanet:2209" +MONDO:0016366 "ICD10CM:E70.1" MONDO:0016366 "OMIM:261600" -MONDO:0009520 "ICD10:E71.1" MONDO:0009520 "OMIM:246450" MONDO:0009520 "UMLS:C0268601" MONDO:0009520 "MESH:C538324" MONDO:0009520 "UMLS:C1533587" +MONDO:0009520 "ICD10CM:E71.1" MONDO:0009520 "Orphanet:20" MONDO:0009520 "SCTID:410059004" MONDO:0009520 "NCIT:C84523" MONDO:0009520 "GARD:0008387" -MONDO:0014687 "ICD10:H35.5" MONDO:0014687 "OMIM:616544" MONDO:0014687 "UMLS:C4225287" MONDO:0014687 "DOID:0110389" MONDO:0019742 "Orphanet:93589" -MONDO:0019742 "ICD10:Q61.5" +MONDO:0019742 "ICD10CM:Q61.5" MONDO:0015565 "UMLS:C4303971" -MONDO:0015565 "ICD10:D12.6" MONDO:0015565 "Orphanet:160148" +MONDO:0015565 "ICD10CM:D12.6" MONDO:0015565 "SCTID:720604008" HP:0000979 "SNOMEDCT_US:387778001" HP:0000979 "UMLS:C0034150" @@ -98276,15 +95824,15 @@ MONDO:0008832 "MedDRA:10068335" MONDO:0008832 "DOID:0060856" MONDO:0008832 "Orphanet:97548" MONDO:0008832 "OMIM:208530" -MONDO:0008832 "ICD10:Q20.6" MONDO:0008832 "HP:0011536" MONDO:0008832 "GARD:0006795" +MONDO:0008832 "ICD10CM:Q20.6" HP:0002150 "SNOMEDCT_US:71938000" HP:0002150 "MSH:D053565" HP:0002150 "UMLS:C0020438" MONDO:0019190 "OMIM:612242" MONDO:0019190 "Orphanet:79076" -MONDO:0019190 "ICD10:D12.6" +MONDO:0019190 "ICD10CM:D12.6" MONDO:0019190 "UMLS:CN205768" MONDO:0003458 "UMLS:C1336901" MONDO:0003458 "DOID:5475" @@ -98298,25 +95846,22 @@ MONDO:0001044 "MESH:D004933" MONDO:0001044 "DOID:10485" MONDO:0001044 "ICD9:750.3" MONDO:0001044 "HP:0002032" -MONDO:0001044 "ICD10:Q39.0" MONDO:0001044 "NCIT:C87072" MONDO:0001044 "SCTID:26179002" MONDO:0001044 "GARD:0006381" -MONDO:0017744 "ICD10:E77.8" MONDO:0017744 "Orphanet:309463" +MONDO:0017744 "ICD10CM:E77.8" MONDO:0017744 "UMLS:CN227191" -MONDO:0001220 "ICD10:E20" MONDO:0001220 "GARD:0006733" MONDO:0001220 "NCIT:C78350" +MONDO:0001220 "ICD10CM:E20" MONDO:0001220 "OMIM:307700" -MONDO:0001220 "ICD10:E20.9" MONDO:0001220 "MESH:D007011" MONDO:0001220 "SCTID:36976004" MONDO:0001220 "ICD9:252.1" MONDO:0001220 "OMIM:146200" MONDO:0001220 "Orphanet:2238" MONDO:0001220 "DOID:11199" -MONDO:0016681 "ICD10:G71.9" MONDO:0016681 "MedDRA:10018340" MONDO:0016681 "DOID:3071" MONDO:0016681 "GARD:0005653" @@ -98324,14 +95869,14 @@ MONDO:0016681 "NCIT:C3796" MONDO:0016681 "UMLS:C0206726" MONDO:0016681 "ONCOTREE:GSARC" MONDO:0016681 "MESH:D018316" +MONDO:0016681 "ICD10CM:G71.9" MONDO:0016681 "EFO:1001465" MONDO:0016681 "ICDO:9442/3" MONDO:0016681 "Orphanet:251576" +MONDO:0006834 "ICD10CM:C00" MONDO:0006834 "NCIT:C7485" MONDO:0006834 "ICD9:140.5" MONDO:0006834 "MedDRA:10007089" -MONDO:0006834 "ICD10:C00" -MONDO:0006834 "ICD10:C00.9" MONDO:0006834 "SCTID:187622006" MONDO:0006834 "ICD9:140" MONDO:0006834 "MESH:D008048" @@ -98344,9 +95889,9 @@ MONDO:0009708 "DOID:0111268" MONDO:0009708 "Orphanet:53698" MONDO:0009708 "OMIM:255160" MONDO:0009708 "MESH:C564970" +MONDO:0012117 "ICD10CM:E77.8" MONDO:0012117 "MESH:C535750" MONDO:0012117 "SCTID:720978005" -MONDO:0012117 "ICD10:E77.8" MONDO:0012117 "OMIM:608776" MONDO:0012117 "UMLS:C2931006" MONDO:0012117 "DOID:0080564" @@ -98357,14 +95902,14 @@ MONDO:0054833 "OMIM:618036" MONDO:0054833 "Orphanet:521414" MONDO:0054833 "UMLS:CN248781" MONDO:0054833 "DOID:0111558" -MONDO:0020109 "ICD10:D51.3" -MONDO:0020109 "ICD10:D51.2" -MONDO:0020109 "ICD10:D51.1" -MONDO:0020109 "ICD10:D51.0" +MONDO:0020109 "ICD10CM:D51.9" +MONDO:0020109 "ICD10CM:D51.8" +MONDO:0020109 "ICD10CM:D51.3" +MONDO:0020109 "ICD10CM:D51.2" MONDO:0020109 "Orphanet:98396" MONDO:0020109 "UMLS:CN227785" -MONDO:0020109 "ICD10:D51.9" -MONDO:0020109 "ICD10:D51.8" +MONDO:0020109 "ICD10CM:D51.1" +MONDO:0020109 "ICD10CM:D51.0" MONDO:0015752 "Orphanet:171860" MONDO:0015752 "UMLS:CN226733" MONDO:0024612 "SCTID:191618007" @@ -98378,7 +95923,6 @@ HP:0001010 "SNOMEDCT_US:89031001" HP:0001010 "SNOMEDCT_US:201284005" MONDO:0001676 "MESH:D046351" MONDO:0001676 "OMIM:177000" -MONDO:0001676 "ICD10:E80.0" MONDO:0001676 "NCIT:C84698" MONDO:0001676 "OMIM:300752" MONDO:0001676 "Orphanet:79278" @@ -98390,14 +95934,14 @@ MONDO:0003876 "DOID:6425" MONDO:0003876 "NCIT:C6078" MONDO:0003876 "UMLS:C0920196" MONDO:0005165 "SCTID:20376005" -MONDO:0005165 "ICD10:D10.D36" MONDO:0005165 "DOID:0060084" +MONDO:0005165 "ICD10CM:D10-D36" MONDO:0005165 "ICD9:210-229.99" MONDO:0005165 "EFO:0002422" MONDO:0005165 "ICDO:8000/0" MONDO:0005165 "NCIT:C3677" -MONDO:0005165 "DOID:0060085" MONDO:0005165 "ICD9:229.9" +MONDO:0005165 "DOID:0060085" MONDO:0005165 "ICD9:229.8" MONDO:0005165 "DOID:0060072" MONDO:0004876 "DOID:9767" @@ -98406,18 +95950,17 @@ MONDO:0004876 "MESH:D017682" MONDO:0043179 "UMLS:C2931016" MONDO:0043179 "MESH:C535774" MONDO:0043179 "GARD:0004345" +MONDO:0017931 "ICD10CM:G71.8" MONDO:0017931 "UMLS:CN227223" MONDO:0017931 "Orphanet:324381" -MONDO:0017931 "ICD10:G71.8" MONDO:0008949 "UMLS:C1859259" MONDO:0008949 "OMIM:213820" MONDO:0008949 "MESH:C537370" MONDO:0008949 "GARD:0003812" -MONDO:0005822 "ICD10:A53.0" MONDO:0005822 "MESH:D013592" MONDO:0005822 "SCTID:444150000" -MONDO:0005822 "UMLS:C0039133" MONDO:0005822 "ICD9:097.1" +MONDO:0005822 "UMLS:C0039133" MONDO:0005822 "NCIT:C35056" MONDO:0005822 "EFO:0007340" MONDO:0005822 "DOID:9531" @@ -98452,12 +95995,12 @@ MONDO:0004420 "DOID:7983" MONDO:0004420 "UMLS:C1334565" MONDO:0022862 "GARD:0001523" CL:1000442 "FMA:70598" +MONDO:0014162 "ICD10CM:I42.2" MONDO:0014162 "Orphanet:352563" MONDO:0014162 "UMLS:C3809339" MONDO:0014162 "OMIM:615395" MONDO:0014162 "DOID:0111469" MONDO:0014162 "GARD:0012892" -MONDO:0014162 "ICD10:I42.2" MONDO:0002843 "DOID:4034" MONDO:0002843 "UMLS:C0948638" MONDO:0002843 "NCIT:C27342" @@ -98468,7 +96011,6 @@ MONDO:0043576 "UMLS:C0014100" MONDO:0043576 "SCTID:33806008" MONDO:0043576 "NCIT:C34581" MONDO:0001716 "UMLS:C0155108" -MONDO:0001716 "ICD10:H18.02" MONDO:0001716 "DOID:13447" MONDO:0001716 "ICD9:371.16" MONDO:0001716 "SCTID:21328003" @@ -98485,21 +96027,18 @@ MONDO:0016145 "UMLS:C2931687" MONDO:0016145 "GARD:0002031" MONDO:0016145 "GARD:0002003" MONDO:0016145 "MESH:C537995" +MONDO:0011702 "ICD10CM:I42.0" MONDO:0011702 "MESH:C564679" MONDO:0011702 "DOID:0110436" MONDO:0011702 "UMLS:C1847667" -MONDO:0011702 "ICD10:I42.0" MONDO:0011702 "OMIM:606685" MONDO:0008541 "UMLS:C0037856" MONDO:0008541 "DOID:11996" MONDO:0008541 "MESH:D013086" MONDO:0008541 "SCTID:81996005" -MONDO:0008541 "ICD10:N44.0" -MONDO:0008541 "ICD10:N44.00" MONDO:0008541 "ICD9:608.2" MONDO:0008541 "OMIM:187400" MONDO:0008541 "ICD9:608.20" -MONDO:0008541 "ICD10:N44.02" MONDO:0008541 "NCIT:C26885" MONDO:0009826 "OMIM:260100" MONDO:0021948 "EFO:1001443" @@ -98512,13 +96051,11 @@ MONDO:0040753 "SCTID:11999007" MONDO:0040753 "UMLS:C1609538" MONDO:0040753 "MESH:D055985" MONDO:0000957 "ICD9:375.81" -MONDO:0000957 "ICD10:H04.81" MONDO:0000957 "DOID:10174" MONDO:0000957 "SCTID:417563003" MONDO:0000957 "UMLS:C0155253" MONDO:0011271 "Orphanet:84132" MONDO:0011271 "DOID:0110633" -MONDO:0011271 "ICD10:G71.8" MONDO:0011271 "UMLS:C0410180" MONDO:0011271 "Orphanet:598" MONDO:0011271 "MESH:C535683" @@ -98527,7 +96064,6 @@ MONDO:0011271 "SCTID:240063002" MONDO:0011271 "Orphanet:97244" MONDO:0011271 "Orphanet:324604" MONDO:0011271 "NCIT:C126691" -MONDO:0011271 "ICD10:G71.2" MONDO:0028741 "Orphanet:498448" MONDO:0001151 "NCIT:C3656" MONDO:0001151 "ICD9:401.1" @@ -98535,38 +96071,37 @@ MONDO:0001151 "DOID:10913" MONDO:0001151 "UMLS:C0155583" MONDO:0001151 "SCTID:1201005" MONDO:0017547 "Orphanet:295203" -MONDO:0017547 "ICD10:Q66.8" +MONDO:0017547 "ICD10CM:Q66.8" MONDO:0018734 "UMLS:C0334540" MONDO:0018734 "ICDO:9142/0" MONDO:0018734 "DOID:470" MONDO:0018734 "Orphanet:464318" -MONDO:0018734 "ICD10:D18.0" MONDO:0018734 "UMLS:CN242156" +MONDO:0018734 "ICD10CM:D18.0" MONDO:0018734 "NCIT:C4299" MONDO:0016460 "UMLS:C4509918" MONDO:0016460 "SCTID:723448007" MONDO:0016460 "UMLS:CN201425" -MONDO:0016460 "ICD10:Q87.8" +MONDO:0016460 "ICD10CM:Q87.8" MONDO:0016460 "Orphanet:228410" MONDO:0045069 "UMLS:C1334771" MONDO:0045069 "NCIT:C5957" -MONDO:0007093 "ICD10:K00.5" MONDO:0007093 "OMIM:104510" MONDO:0007093 "UMLS:C1863012" +MONDO:0007093 "ICD10CM:K00.5" MONDO:0007093 "Orphanet:100034" MONDO:0007093 "DOID:0110053" MONDO:0007093 "MESH:C566293" -MONDO:0019977 "ICD10:F02.3*" -MONDO:0019977 "ICD10:G20+" +MONDO:0019977 "ICD10EXP:G20+" MONDO:0019977 "UMLS:CN206908" MONDO:0019977 "Orphanet:97355" MONDO:0019977 "SCTID:715737004" +MONDO:0019977 "ICD10EXP:F02.3*" MONDO:0008424 "OMIM:182200" MONDO:0008424 "MESH:C566689" MONDO:0009982 "OMIM:268010" MONDO:0009982 "MESH:C564842" MONDO:0009982 "UMLS:C1849405" -MONDO:0012087 "ICD10:Q34.8" MONDO:0012087 "MESH:C535279" MONDO:0012087 "OMIM:608646" MONDO:0012087 "UMLS:C1837616" @@ -98582,9 +96117,9 @@ MONDO:0003330 "ICD9:599.60" MONDO:0003330 "DOID:5200" MONDO:0003330 "UMLS:C0178879" MONDO:0003330 "NCIT:C3675" -MONDO:0003330 "ICD10:N13.9" MONDO:0003330 "ICD9:599.6" MONDO:0017996 "UMLS:CN204202" +MONDO:0017996 "OMIM:615057" MONDO:0017996 "Orphanet:329255" HP:0100034 "UMLS:C0751900" HP:0100034 "MSH:D020323" @@ -98595,8 +96130,8 @@ MONDO:0002225 "DOID:2146" MONDO:0002225 "UMLS:C0280746" MONDO:0002225 "NCIT:C8267" MONDO:0002225 "SCTID:423627007" +MONDO:0019814 "ICD10CM:Q22.8" MONDO:0019814 "Orphanet:95461" -MONDO:0019814 "ICD10:Q22.8" MONDO:0003308 "DOID:5157" MONDO:0003308 "ONCOTREE:PLMESO" MONDO:0003308 "NCIT:C9351" @@ -98607,8 +96142,8 @@ MONDO:0002592 "NCIT:C7904" MONDO:0002592 "UMLS:C0278846" MONDO:0002592 "DOID:3283" MONDO:0018617 "GARD:0010664" +MONDO:0018617 "ICD10CM:G90.4" MONDO:0018617 "Orphanet:443084" -MONDO:0018617 "ICD10:G90.4" MONDO:0018617 "UMLS:CN237655" MONDO:0020003 "Orphanet:97965" MONDO:0020003 "UMLS:CN206936" @@ -98617,7 +96152,6 @@ MONDO:0017042 "DOID:13481" MONDO:0017042 "UMLS:C0039743" MONDO:0017042 "OMIM:273680" MONDO:0017042 "MESH:D013796" -MONDO:0017042 "ICD10:Q77.1" MONDO:0017042 "Orphanet:1860" MONDO:0017042 "Orphanet:93274" MONDO:0017042 "NCIT:C85187" @@ -98630,10 +96164,10 @@ MONDO:0017042 "OMIM:187600" MONDO:0017042 "ICD9:259.4" MONDO:0017042 "OMIM:187601" MONDO:0019168 "UMLS:C1704275" +MONDO:0019168 "ICD10CM:M60.0" MONDO:0019168 "GARD:0004614" MONDO:0019168 "Orphanet:764" MONDO:0019168 "MESH:D052880" -MONDO:0019168 "ICD10:M60.0" MONDO:0019168 "UMLS:C0041188" MONDO:0019168 "MedDRA:10037652" MONDO:0019168 "SCTID:65110003" @@ -98643,9 +96177,9 @@ MONDO:0019168 "EFO:1001409" MONDO:0019168 "ICD9:040.81" MONDO:0015602 "UMLS:CN199975" MONDO:0015602 "Orphanet:163988" -MONDO:0009156 "ICD10:Q74.8" MONDO:0009156 "GARD:0002068" MONDO:0009156 "UMLS:C1857040" +MONDO:0009156 "ICD10CM:Q74.8" MONDO:0009156 "OMIM:225290" MONDO:0009156 "Orphanet:1892" MONDO:0009156 "MESH:C565601" @@ -98656,18 +96190,18 @@ MONDO:0012505 "MESH:C566472" MONDO:0006038 "NCIT:C27110" MONDO:0006038 "UMLS:C0341332" MONDO:0006038 "ICD9:558.9" -MONDO:0006038 "ICD10:K52.3" MONDO:0006038 "EFO:1000034" MONDO:0006038 "SCTID:235746007" +MONDO:0006038 "ICD10CM:K52.3" +MONDO:0013840 "ICD10CM:E88.8" MONDO:0013840 "OMIM:614654" -MONDO:0013840 "ICD10:E88.8" MONDO:0013840 "DOID:0070242" MONDO:0013840 "UMLS:C3553374" MONDO:0013840 "Orphanet:319678" MONDO:0018483 "UMLS:C3873302" MONDO:0018483 "SCTID:707510005" +MONDO:0018483 "ICD10CM:J84.0" MONDO:0018483 "Orphanet:420259" -MONDO:0018483 "ICD10:J84.0" MONDO:0006907 "EFO:1001107" MONDO:0006907 "UMLS:C0346005" MONDO:0006907 "MESH:D049309" @@ -98676,13 +96210,6 @@ MONDO:0006907 "NCIT:C4468" MONDO:0006907 "SCTID:254693008" MONDO:0023015 "GARD:0001919" MONDO:0100390 "NCIT:C173542" -MONDO:0005601 "EFO:0006462" -MONDO:0005601 "NCIT:C5243" -MONDO:0005601 "Orphanet:398961" -MONDO:0005601 "ICD10:C56" -MONDO:0005601 "DOID:3606" -MONDO:0005601 "UMLS:CN205033" -MONDO:0005601 "UMLS:C1335167" MONDO:0001537 "UMLS:C0152814" MONDO:0001537 "ICD9:016.41" MONDO:0001537 "ICD9:016.4" @@ -98691,14 +96218,20 @@ MONDO:0001537 "ICD9:016.40" MONDO:0001537 "DOID:1251" MONDO:0001537 "SCTID:83652003" MONDO:0001537 "ICD9:016.46" +MONDO:0005601 "EFO:0006462" +MONDO:0005601 "NCIT:C5243" +MONDO:0005601 "ICD10CM:C56" +MONDO:0005601 "Orphanet:398961" +MONDO:0005601 "DOID:3606" +MONDO:0005601 "UMLS:CN205033" +MONDO:0005601 "UMLS:C1335167" MONDO:0013946 "DOID:0090075" MONDO:0013946 "UMLS:C3553977" MONDO:0013946 "OMIM:614880" -MONDO:0013946 "ICD10:23.0" MONDO:0013946 "Orphanet:478" MONDO:0015823 "Orphanet:179006" -MONDO:0004913 "ICD10:H50.05" MONDO:0004913 "UMLS:C0152205" +MONDO:0004913 "ICD10CM:H50.05" MONDO:0004913 "DOID:9888" MONDO:0004913 "SCTID:39837002" MONDO:0004913 "ICD9:378.05" @@ -98710,11 +96243,11 @@ MONDO:0013723 "OMIM:614382" MONDO:0015271 "MESH:C537968" MONDO:0015271 "SCTID:13534001" MONDO:0015271 "MedDRA:10069646" -MONDO:0015271 "ICD10:M43.8" MONDO:0015271 "GARD:0001063" MONDO:0015271 "Orphanet:1320" +MONDO:0015271 "ICD10CM:M43.8" MONDO:0017471 "GARD:0009692" -MONDO:0017471 "ICD10:Q74.1" +MONDO:0017471 "ICD10CM:Q74.1" MONDO:0017471 "MESH:C538081" MONDO:0017471 "SCTID:205067002" MONDO:0017471 "Orphanet:295036" @@ -98745,14 +96278,15 @@ MONDO:0002141 "ICD9:171.9" MONDO:0009585 "OMIM:249650" MONDO:0009585 "UMLS:C0796055" MONDO:0009585 "GARD:0000654" -MONDO:0009585 "ICD10:E72.1" MONDO:0009585 "MESH:C563085" +MONDO:0009585 "ICD10CM:E72.1" MONDO:0009585 "Orphanet:1035" MONDO:0020866 "SCTID:75589004" MONDO:0020866 "ICD9:032.1" MONDO:0020866 "UMLS:C0012558" MONDO:0020866 "NCIT:C34547" MONDO:0008083 "GARD:0001222" +MONDO:0008083 "ICD10CM:E75.4" MONDO:0008083 "UMLS:C4284284" MONDO:0008083 "Orphanet:79262" MONDO:0008083 "NCIT:C128116" @@ -98760,11 +96294,10 @@ MONDO:0008083 "UMLS:C1834207" MONDO:0008083 "DOID:0110720" MONDO:0008083 "Orphanet:228343" MONDO:0008083 "OMIM:162350" -MONDO:0008083 "ICD10:E75.4" MONDO:0056817 "NCIT:C43594" MONDO:0056817 "UMLS:C1709865" +MONDO:0009414 "ICD10CM:E74.0" MONDO:0009414 "Orphanet:2089" -MONDO:0009414 "ICD10:E74.0" MONDO:0009414 "UMLS:C0342748" MONDO:0009414 "GARD:0002513" MONDO:0009414 "OMIM:240600" @@ -98773,8 +96306,8 @@ MONDO:0009414 "UMLS:C1855861" MONDO:0009414 "GARD:0002889" MONDO:0009414 "SCTID:237964009" NCBITaxon:41705 "GC_ID:1" +MONDO:0006771 "ICD10CM:K14.0" MONDO:0006771 "MedDRA:10018386" -MONDO:0006771 "ICD10:K14.0" MONDO:0006771 "EFO:1000951" MONDO:0006771 "NCIT:C112199" MONDO:0006771 "MESH:D005928" @@ -98791,19 +96324,18 @@ MONDO:0000549 "DOID:0050935" MONDO:0001246 "Orphanet:102023" MONDO:0001246 "UMLS:C0041471" MONDO:0001246 "GARD:0007833" -MONDO:0001246 "ICD10:A75" MONDO:0001246 "DOID:11256" +MONDO:0001246 "ICD10CM:A75.2" MONDO:0001246 "SCTID:240613006" +MONDO:0001246 "ICD10CM:A75.3" MONDO:0001246 "ICD9:080" MONDO:0001246 "NCIT:C84689" -MONDO:0001246 "ICD10:A75.1" +MONDO:0001246 "ICD10CM:A75.0" MONDO:0001246 "ICD9:081.9" MONDO:0001246 "UMLS:C0041472" +MONDO:0001246 "ICD10CM:A75.1" MONDO:0001246 "ICD9:081.0" -MONDO:0001246 "ICD10:A75.9" -MONDO:0001246 "ICD10:A75.0" -MONDO:0001246 "ICD10:A75.3" -MONDO:0001246 "ICD10:A75.2" +MONDO:0001246 "ICD10CM:A75.9" MONDO:0033967 "Orphanet:529974" MONDO:0021244 "UMLS:C0038558" MONDO:0021244 "EFO:1001853" @@ -98813,8 +96345,6 @@ MONDO:0021244 "MESH:D013365" MONDO:0024643 "NCIT:C35544" MONDO:0024643 "SCTID:57809008" MONDO:0003582 "UMLS:C0677776" -MONDO:0003582 "ICD10:C56" -MONDO:0003582 "ICD10:C50" MONDO:0003582 "OMIMPS:604370" MONDO:0003582 "OMIM:604370" MONDO:0003582 "OMIM:612555" @@ -98829,11 +96359,11 @@ MONDO:0003582 "DOID:5683" MONDO:0003582 "NCIT:C8493" MONDO:0014455 "Orphanet:436174" MONDO:0014455 "OMIM:616007" -MONDO:0014455 "ICD10:Q87.8" +MONDO:0014455 "ICD10CM:Q87.8" MONDO:0014455 "UMLS:C4014942" MONDO:0016310 "Orphanet:216986" +MONDO:0016310 "ICD10CM:E75.2" MONDO:0016310 "UMLS:CN201116" -MONDO:0016310 "ICD10:E75.2" HP:0040064 "UMLS:C0239337" HP:0040064 "SNOMEDCT_US:445144002" HP:0040064 "UMLS:C4073131" @@ -98874,16 +96404,15 @@ MONDO:0043240 "NCIT:C27039" MONDO:0012673 "OMIM:611469" MONDO:0030066 "OMIM:618935" NCBITaxon:6447 "GC_ID:1" +MONDO:0018129 "ICD10CM:G11.8" MONDO:0018129 "UMLS:CN204507" MONDO:0018129 "Orphanet:352641" MONDO:0018129 "SCTID:763348005" -MONDO:0018129 "ICD10:G11.8" MONDO:0007845 "Orphanet:160" MONDO:0007845 "OMIM:148000" MONDO:0007845 "Orphanet:33276" MONDO:0032838 "OMIM:618622" MONDO:0009006 "DOID:0060295" -MONDO:0009006 "ICD10:D84.1" MONDO:0009006 "UMLS:C3150275" MONDO:0009006 "NCIT:C119992" MONDO:0009006 "OMIM:217000" @@ -98899,16 +96428,16 @@ MONDO:0011661 "OMIM:606348" MONDO:0011661 "MESH:C565234" MONDO:0011661 "DOID:0110889" MONDO:0011661 "UMLS:C1853438" -MONDO:0012948 "Orphanet:96125" -MONDO:0012948 "OMIM:612582" MONDO:0012948 "MESH:C567239" +MONDO:0012948 "ICD10CM:Q93.5" +MONDO:0012948 "DOID:0060422" +MONDO:0012948 "Orphanet:96125" MONDO:0012948 "SCTID:718688008" MONDO:0012948 "UMLS:C4305276" -MONDO:0012948 "DOID:0060422" -MONDO:0012948 "ICD10:Q93.5" +MONDO:0012948 "OMIM:612582" MONDO:0012948 "UMLS:C2675486" +MONDO:0015050 "ICD10CM:Q39.8" MONDO:0015050 "SCTID:721161005" -MONDO:0015050 "ICD10:Q39.8" MONDO:0015050 "Orphanet:100047" MONDO:0014713 "UMLS:C4225262" MONDO:0014713 "OMIM:616631" @@ -98956,26 +96485,25 @@ MONDO:0007952 "OMIM:155000" MONDO:0007952 "MESH:C563599" MONDO:0007952 "UMLS:C1835088" NCBITaxon:6268 "GC_ID:1" -MONDO:0017300 "ICD10:Q24.8" MONDO:0017300 "Orphanet:2846" MONDO:0017300 "ICD9:746.89" MONDO:0017300 "SCTID:93018000" +MONDO:0017300 "ICD10CM:Q24.8" MONDO:0011074 "MESH:C563321" MONDO:0011074 "OMIM:601412" MONDO:0011074 "UMLS:C1832379" MONDO:0011074 "DOID:0110591" -MONDO:0011074 "ICD10:H90.3" -MONDO:0010785 "NCIT:C131859" -MONDO:0010785 "GARD:0004003" -MONDO:0010785 "MESH:C536246" -MONDO:0010785 "Orphanet:225" +MONDO:0010785 "OMIM:520000" MONDO:0010785 "UMLS:C0342289" +MONDO:0010785 "GARD:0004003" MONDO:0010785 "SCTID:237619009" -MONDO:0010785 "ICD10:E13.8" -MONDO:0010785 "OMIM:520000" MONDO:0010785 "UMLS:C4330695" MONDO:0010785 "ICD9:250.80" -MONDO:0015249 "ICD10:Q23.2" +MONDO:0010785 "NCIT:C131859" +MONDO:0010785 "MESH:C536246" +MONDO:0010785 "ICD10CM:E13.8" +MONDO:0010785 "Orphanet:225" +MONDO:0015249 "ICD10CM:Q23.2" MONDO:0015249 "Orphanet:1205" MONDO:0015249 "HP:0011560" MONDO:0015249 "NCIT:C98992" @@ -98989,17 +96517,15 @@ MONDO:0019680 "SCTID:725904009" MONDO:0019680 "UMLS:C4511481" MONDO:0019680 "UMLS:CN206604" MONDO:0019680 "OMIM:137360" +MONDO:0020162 "ICD10CM:H02.1" MONDO:0020162 "Orphanet:98571" -MONDO:0020162 "ICD10:H02.1" MONDO:0024235 "ICDO:9000/0" MONDO:0024235 "NCIT:C39954" MONDO:0024235 "ONCOTREE:BTOV" MONDO:0023679 "ICD9:705.89" MONDO:0023679 "UMLS:C0473554" -MONDO:0023679 "ICD10:L74.8" MONDO:0023679 "GARD:0013131" MONDO:0023679 "SCTID:238757003" -MONDO:0011484 "ICD10:I47.2" MONDO:0011484 "OMIM:604772" MONDO:0011484 "NCIT:C123414" MONDO:0011484 "UMLS:C1631597" @@ -99008,9 +96534,11 @@ MONDO:0011484 "DOID:0060675" MONDO:0011484 "UMLS:C4053736" MONDO:0012126 "Orphanet:86820" MONDO:0012126 "MESH:D005271" -MONDO:0012126 "ICD10:M87.8" MONDO:0012126 "NCIT:C35480" +MONDO:0012126 "OMIM:608805" +MONDO:0012126 "ICD10CM:M87.8" MONDO:0012126 "GARD:0010914" +MONDO:0012126 "OMIM:617383" MONDO:0012126 "OMIMPS:608805" MONDO:0012126 "UMLS:CN206226" MONDO:0012126 "SCTID:715657008" @@ -99025,23 +96553,21 @@ MONDO:0002119 "ICDO:9274/0" MONDO:0002119 "DOID:180" NCBITaxon:116925 "GC_ID:1" MONDO:0018873 "UMLS:CN776944" -MONDO:0018873 "ICD10:G58.0" MONDO:0018873 "Orphanet:51890" MONDO:0008637 "Orphanet:99771" -MONDO:0008637 "ICD10:Q35.7" MONDO:0008637 "SCTID:18910001" MONDO:0008637 "OMIM:192100" MONDO:0006550 "EFO:1000700" MONDO:0006550 "UMLS:C1336884" MONDO:0006550 "DOID:8108" MONDO:0006550 "NCIT:C6170" +MONDO:0016998 "Orphanet:263708" MONDO:0000959 "DOID:10177" MONDO:0000959 "UMLS:C0155593" MONDO:0000959 "ICD9:403.00" MONDO:0000959 "SCTID:65443008" -MONDO:0016998 "Orphanet:263708" +MONDO:0014305 "ICD10CM:G11.4" MONDO:0014305 "DOID:0110814" -MONDO:0014305 "ICD10:G11.4" MONDO:0014305 "SCTID:726610000" MONDO:0014305 "OMIM:615686" MONDO:0014305 "Orphanet:401805" @@ -99053,14 +96579,13 @@ MONDO:0001905 "UMLS:C0158304" MONDO:0030300 "OMIM:619371" MONDO:0021023 "Orphanet:99429" MONDO:0021023 "OMIM:300068" -MONDO:0021023 "ICD10:E34.51" MONDO:0021023 "SCTID:368851000119102" +MONDO:0021023 "ICD10CM:E34.5" +MONDO:0021023 "ICD10CM:E34.51" MONDO:0021023 "NCIT:C120191" -MONDO:0021023 "ICD10:E34.5" MONDO:0021023 "UMLS:CN207337" -MONDO:0021023 "OMIM:300274" MONDO:0021023 "GARD:0010597" -MONDO:0017940 "ICD10:G60.0" +MONDO:0017940 "ICD10CM:G60.0" MONDO:0017940 "SCTID:764730007" MONDO:0017940 "UMLS:CN204086" MONDO:0017940 "Orphanet:324611" @@ -99097,7 +96622,6 @@ MONDO:0021129 "DOID:10629" MONDO:0021129 "ICD9:743.10" MONDO:0021129 "SCTID:204108000" MONDO:0021129 "OMIM:607932" -MONDO:0021129 "ICD10:Q11.2" MONDO:0021129 "OMIM:600165" MONDO:0021129 "MESH:D008850" MONDO:0021129 "OMIM:611040" @@ -99108,14 +96632,13 @@ MONDO:0021129 "OMIM:610125" MONDO:0013938 "OMIM:614872" MONDO:0013938 "UMLS:C3888385" MONDO:0013938 "DOID:0080482" -MONDO:0017294 "ICD10:E74.8" +MONDO:0017294 "ICD10CM:E74.8" MONDO:0017294 "OMIM:307030" MONDO:0017294 "Orphanet:284408" CL:1001611 "FMA:84665" CL:1001611 "CALOHA:TS-2359" MONDO:0022464 "GARD:0000718" MONDO:0007282 "DOID:0110232" -MONDO:0007282 "ICD10:Q12.0" MONDO:0007282 "UMLS:C3805409" MONDO:0007282 "Orphanet:91492" MONDO:0007282 "OMIM:115800" @@ -99125,7 +96648,7 @@ MONDO:0010355 "MESH:C564494" MONDO:0010355 "UMLS:C1845243" MONDO:0010355 "UMLS:C4304915" MONDO:0010355 "Orphanet:85279" -MONDO:0010355 "ICD10:Q87.8" +MONDO:0010355 "ICD10CM:Q87.8" MONDO:0010355 "SCTID:719161008" MONDO:0010355 "OMIM:300534" MONDO:0014171 "DOID:0090138" @@ -99134,7 +96657,6 @@ MONDO:0014171 "OMIM:615412" MONDO:0020420 "NCIT:C99144" MONDO:0020420 "UMLS:C2062889" MONDO:0020420 "Orphanet:99084" -MONDO:0020420 "ICD10:Q25.6" MONDO:0002852 "DOID:4050" MONDO:0002852 "NCIT:C6606" MONDO:0002852 "UMLS:C1334678" @@ -99144,21 +96666,21 @@ MONDO:0012534 "UMLS:C1857682" MONDO:0012534 "Orphanet:254925" MONDO:0012534 "DOID:0111494" MONDO:0012534 "MESH:C565690" +MONDO:0012534 "ICD10CM:E88.8" MONDO:0012534 "OMIM:610678" MONDO:0012534 "SCTID:766876004" -MONDO:0012534 "ICD10:E88.8" MONDO:0018696 "Orphanet:454887" -MONDO:0018696 "ICD10:G31.0" +MONDO:0018696 "ICD10CM:G31.0" MONDO:0018696 "UMLS:CN237765" MONDO:0016115 "Orphanet:206707" -MONDO:0016115 "ICD10:G12.2" +MONDO:0016115 "ICD10CM:G12.2" MONDO:0005909 "MESH:D018182" MONDO:0005909 "EFO:0007432" MONDO:0005909 "UMLS:C0206611" MONDO:0011076 "DOID:0080092" -MONDO:0011076 "ICD10:G71.8" MONDO:0011076 "OMIM:601419" MONDO:0011076 "UMLS:C1832370" +MONDO:0011076 "ICD10CM:G71.8" MONDO:0011076 "Orphanet:98909" MONDO:0002781 "NCIT:C27335" MONDO:0002781 "UMLS:C0919940" @@ -99190,7 +96712,7 @@ MONDO:0015356 "MESH:D009386" MONDO:0015356 "SCTID:699346009" MONDO:0015356 "Orphanet:140162" MONDO:0017556 "Orphanet:295221" -MONDO:0017556 "ICD10:Q74.0" +MONDO:0017556 "ICD10CM:Q74.0" MONDO:0019112 "Orphanet:71505" MONDO:0019112 "SCTID:404663008" MONDO:0019112 "MESH:D059545" @@ -99204,28 +96726,26 @@ MONDO:0002397 "DOID:270" MONDO:0002397 "NCIT:C4437" MONDO:0013116 "MESH:C567769" MONDO:0013116 "UMLS:C2751320" +MONDO:0013116 "ICD10CM:G71.3" MONDO:0013116 "OMIM:613076" MONDO:0013116 "GARD:0010522" MONDO:0013116 "Orphanet:330054" -MONDO:0013116 "ICD10:G71.3" MONDO:0006153 "EFO:1000185" MONDO:0006153 "NCIT:C5518" MONDO:0006153 "UMLS:C1333090" MONDO:0007540 "GARD:0003829" MONDO:0007540 "SCTID:30664006" -MONDO:0007540 "ICD10:D44.8" MONDO:0007540 "NCIT:C3225" MONDO:0007540 "UMLS:C0025267" MONDO:0007540 "ICD9:237.4" -MONDO:0007540 "ICD10:E31.21" MONDO:0007540 "OMIM:131100" MONDO:0007540 "ICD9:258.01" MONDO:0007540 "DOID:10017" MONDO:0007540 "MESH:D018761" MONDO:0007540 "MedDRA:10028190" +MONDO:0007540 "ICD10CM:D44.8" MONDO:0007540 "Orphanet:652" MONDO:0012902 "DOID:0110556" -MONDO:0012902 "ICD10:H90.3" MONDO:0012902 "OMIM:612431" MONDO:0013021 "NCIT:C119056" MONDO:0013021 "GARD:0010516" @@ -99248,21 +96768,20 @@ MONDO:0006093 "UMLS:C1332340" MONDO:0006093 "EFO:1000094" MONDO:0006093 "NCIT:C6427" MONDO:0018288 "Orphanet:371157" -MONDO:0018288 "ICD10:E77.8" +MONDO:0018288 "ICD10CM:E77.8" +MONDO:0019619 "ICD10CM:Q39.8" MONDO:0019619 "Orphanet:91357" -MONDO:0019619 "ICD10:Q39.8" CL:0002597 "KUPO:0001122" MONDO:0000809 "MESH:D055665" -MONDO:0000809 "ICD10:D65" MONDO:0000809 "SCTID:13507004" MONDO:0000809 "DOID:0060538" MONDO:0000809 "EFO:1001913" MONDO:0030966 "OMIM:619194" -MONDO:0010134 "ICD10:E07.1" MONDO:0010134 "OMIM:274600" MONDO:0010134 "GARD:0004271" MONDO:0010134 "DOID:0060744" MONDO:0010134 "MESH:C536648" +MONDO:0010134 "ICD10CM:E07.1" MONDO:0010134 "Orphanet:705" MONDO:0010134 "UMLS:C0271829" MONDO:0010134 "SCTID:70348004" @@ -99272,8 +96791,8 @@ MONDO:0005773 "Orphanet:221117" MONDO:0005773 "GARD:0008660" MONDO:0005773 "MedDRA:10048608" MONDO:0005773 "SCTID:36785009" -MONDO:0005773 "ICD10:F81.2" MONDO:0005773 "ICD9:784.69" +MONDO:0005773 "ICD10CM:F81.2" MONDO:0005773 "EFO:0007285" MONDO:0005773 "DOID:4969" HP:0000504 "UMLS:C4025846" @@ -99282,16 +96801,16 @@ MONDO:0011759 "NCIT:C122782" MONDO:0011759 "SCTID:73123008" MONDO:0011759 "DOID:0111389" MONDO:0011759 "MedDRA:10056916" -MONDO:0011759 "ICD10:E76.0" +MONDO:0011759 "ICD10CM:E76.0" MONDO:0011759 "Orphanet:579" MONDO:0011759 "GARD:0012560" MONDO:0011759 "UMLS:C0086431" MONDO:0011759 "OMIM:607015" MONDO:0019806 "Orphanet:95432" +MONDO:0019806 "ICD10CM:G31.0" MONDO:0019806 "GARD:0008541" MONDO:0019806 "MESH:D018888" MONDO:0019806 "EFO:0009053" -MONDO:0019806 "ICD10:G31.0" MONDO:0019806 "NCIT:C85024" MONDO:0019806 "UMLS:C0282513" MONDO:0017105 "Orphanet:269197" @@ -99303,12 +96822,12 @@ MONDO:0005610 "SCTID:270505009" MONDO:0005610 "ICD9:716.08" MONDO:0005610 "ICD9:716.06" HP:0011962 "UMLS:C4023106" +MONDO:0009352 "ICD10CM:E72.1" MONDO:0009352 "UMLS:C0751202" MONDO:0009352 "Orphanet:394" MONDO:0009352 "GARD:0006667" MONDO:0009352 "SCTID:24308003" MONDO:0009352 "OMIM:236200" -MONDO:0009352 "ICD10:E72.1" MONDO:0009352 "MedDRA:10071093" MONDO:0020655 "SCTID:239805001" MONDO:0020655 "DOID:0040092" @@ -99329,8 +96848,8 @@ MONDO:0017073 "Orphanet:268762" MONDO:0004194 "DOID:7347" MONDO:0004194 "NCIT:C40446" MONDO:0004194 "UMLS:C1518743" +MONDO:0015761 "ICD10CM:Q92.2" MONDO:0015761 "SCTID:717157006" -MONDO:0015761 "ICD10:Q92.2" MONDO:0015761 "Orphanet:171929" MONDO:0015761 "MESH:C538290" MONDO:0015761 "GARD:0005299" @@ -99358,12 +96877,12 @@ MONDO:0018546 "Orphanet:43116" MONDO:0018546 "MedDRA:10040108" MONDO:0018546 "EFO:1001842" MONDO:0018546 "ICD9:333.99" -MONDO:0009731 "ICD10:Q87.8" MONDO:0009731 "UMLS:C1850552" MONDO:0009731 "MESH:C536402" MONDO:0009731 "Orphanet:2669" MONDO:0009731 "GARD:0003943" MONDO:0009731 "OMIM:256200" +MONDO:0009731 "ICD10CM:Q87.8" MONDO:0008340 "HP:0007970" MONDO:0008340 "MedDRA:10015996" MONDO:0008340 "SCTID:268163008" @@ -99373,7 +96892,6 @@ MONDO:0008340 "Orphanet:91411" MONDO:0008340 "OMIM:178300" MONDO:0008340 "DOID:0060261" MONDO:0008340 "OMIM:616219" -MONDO:0008340 "ICD10:Q10.0" MONDO:0008340 "ICD9:743.61" MONDO:0008340 "OMIM:300245" MONDO:0003387 "DOID:5307" @@ -99391,10 +96909,10 @@ MONDO:0002631 "ICDO:9186/3" MONDO:0007143 "UMLS:C1862682" MONDO:0007143 "Orphanet:1110" MONDO:0007143 "GARD:0000739" +MONDO:0007143 "ICD10CM:Q87.8" MONDO:0007143 "OMIM:107500" MONDO:0007143 "MESH:C537785" -MONDO:0007143 "ICD10:Q87.8" -MONDO:0010520 "ICD10:Q87.8" +MONDO:0010520 "ICD10CM:Q87.8" MONDO:0010520 "GARD:0005785" MONDO:0010520 "Orphanet:63" MONDO:0010520 "MedDRA:10001843" @@ -99412,14 +96930,14 @@ MONDO:0009085 "UMLS:C1857339" MONDO:0009085 "GARD:0001705" MONDO:0009085 "OMIM:221350" MONDO:0009085 "MESH:C565642" -MONDO:0009085 "ICD10:Q87.8" +MONDO:0009085 "ICD10CM:Q87.8" MONDO:0030010 "OMIM:618841" -MONDO:0008972 "ICD10:Q77.3" MONDO:0008972 "DOID:0110851" MONDO:0008972 "OMIM:215100" MONDO:0008972 "Orphanet:177" MONDO:0008972 "Orphanet:309789" MONDO:0008972 "UMLS:C1859133" +MONDO:0008972 "ICD10CM:Q77.3" MONDO:0008972 "GARD:0006049" MONDO:0023046 "GARD:0002045" MONDO:0044989 "UMLS:C0016510" @@ -99431,14 +96949,14 @@ MONDO:0005361 "SCTID:235599003" MONDO:0005361 "Orphanet:73247" MONDO:0005361 "OMIM:610247" MONDO:0005361 "DOID:13922" +MONDO:0005361 "ICD10CM:K20.0" MONDO:0005361 "OMIM:613412" MONDO:0005361 "UMLS:C0341106" MONDO:0005361 "ICD9:530.13" MONDO:0005361 "EFO:0004232" -MONDO:0005361 "ICD10:K20" MONDO:0005361 "NCIT:C27105" MONDO:0005361 "MedDRA:10064212" -MONDO:0005361 "ICD10:K20.0" +MONDO:0005361 "ICD10CM:K20" NCBITaxon:642 "PMID:12807216" NCBITaxon:642 "PMID:15388703" NCBITaxon:642 "GC_ID:11" @@ -99453,35 +96971,35 @@ NCBITaxon:642 "PMID:8347521" NCBITaxon:642 "PMID:1380289" NCBITaxon:642 "PMID:11155981" NCBITaxon:642 "PMID:8934910" -MONDO:0019893 "ICD10:Q93.5" MONDO:0019893 "Orphanet:96129" -MONDO:0018912 "ICD10:E24.9" -MONDO:0018912 "ICD10:E24.0" +MONDO:0019893 "ICD10CM:Q93.5" +MONDO:0018912 "ICD10CM:E24.0" +MONDO:0018912 "ICD10CM:E24.4" MONDO:0018912 "MedDRA:10020610" MONDO:0018912 "GARD:0006224" MONDO:0018912 "NCIT:C2969" -MONDO:0018912 "ICD10:E24.4" -MONDO:0018912 "ICD10:E24.8" -MONDO:0018912 "ICD10:E24" +MONDO:0018912 "ICD10CM:E24.8" +MONDO:0018912 "ICD10CM:E24.2" +MONDO:0018912 "ICD10CM:E24.3" +MONDO:0018912 "ICD10CM:E24" MONDO:0018912 "UMLS:C0010481" -MONDO:0018912 "ICD10:E24.2" MONDO:0018912 "MedDRA:10020564" MONDO:0018912 "MedDRA:10011652" -MONDO:0018912 "ICD10:E24.3" MONDO:0018912 "OMIM:219090" MONDO:0018912 "EFO:0003099" MONDO:0018912 "MESH:D003480" +MONDO:0018912 "ICD10CM:E24.1" MONDO:0018912 "ICD9:255.0" MONDO:0018912 "Orphanet:553" MONDO:0018912 "MedDRA:10020562" -MONDO:0018912 "ICD10:E24.1" +MONDO:0018912 "ICD10CM:E24.9" MONDO:0012339 "OMIM:609753" MONDO:0006763 "ICD9:726.0" MONDO:0006763 "UMLS:C0311223" MONDO:0006763 "EFO:1000941" MONDO:0006763 "DOID:14188" -MONDO:0006763 "ICD10:M75.0" MONDO:0006763 "MedDRA:10017391" +MONDO:0006763 "ICD10CM:M75.0" MONDO:0006763 "SCTID:399114005" MONDO:0054832 "UMLS:CN248531" MONDO:0054832 "OMIM:618031" @@ -99490,10 +97008,9 @@ MONDO:0015310 "Orphanet:137905" MONDO:0006600 "SCTID:414032001" NCBITaxon:31604 "GC_ID:1" MONDO:0002351 "UMLS:C0153483" -MONDO:0002351 "SCTID:187841006" MONDO:0002351 "DOID:2595" +MONDO:0002351 "SCTID:187841006" MONDO:0002351 "NCIT:C3544" -MONDO:0002351 "ICD10:C32.0" MONDO:0002351 "ICD9:161.0" MONDO:0041295 "SCTID:270494003" MONDO:0018149 "OMIM:230500" @@ -99503,30 +97020,29 @@ MONDO:0018149 "UMLS:C0085131" MONDO:0018149 "OMIM:230600" MONDO:0018149 "MESH:D016537" MONDO:0018149 "Orphanet:354" +MONDO:0018149 "ICD10CM:E75.1" MONDO:0018149 "SCTID:124465002" MONDO:0018149 "ICD9:277.6" MONDO:0018149 "OMIM:230650" -MONDO:0018149 "ICD10:E75.1" MONDO:0018149 "NCIT:C84739" -MONDO:0018149 "ICD10:E75.19" MONDO:0017379 "UMLS:CN203094" +MONDO:0017379 "ICD10CM:Q87.8" MONDO:0017379 "GARD:0004424" MONDO:0017379 "Orphanet:2928" -MONDO:0017379 "ICD10:Q87.8" MONDO:0016751 "Orphanet:252128" MONDO:0016751 "UMLS:C1266188" MONDO:0016751 "ICDO:9571/3" MONDO:0016751 "SCTID:761958009" MONDO:0016751 "NCIT:C66845" MONDO:0018325 "Orphanet:391497" -MONDO:0018325 "ICD10:G70.0" +MONDO:0018325 "ICD10CM:G70.0" MONDO:0060510 "OMIM:617561" MONDO:0060510 "UMLS:C4479654" MONDO:0001592 "DOID:1284" MONDO:0001592 "ICD9:618.8" MONDO:0001592 "UMLS:C0156349" MONDO:0001592 "ICD9:618.89" -MONDO:0001592 "ICD10:N81" +MONDO:0001592 "ICD10CM:N81" MONDO:0001592 "SCTID:73998008" MONDO:0002234 "DOID:2170" MONDO:0002234 "ICD9:616.10" @@ -99547,49 +97063,43 @@ MONDO:0003792 "ONCOTREE:OCS" MONDO:0003792 "UMLS:C0392998" MONDO:0003792 "SCTID:702368000" MONDO:0003792 "GARD:0007296" +MONDO:0003792 "ICD10CM:C56" MONDO:0003792 "NCIT:C9192" -MONDO:0003792 "ICD10:C56" MONDO:0003792 "DOID:6170" MONDO:0003621 "DOID:5740" MONDO:0003621 "NCIT:C27455" MONDO:0003621 "UMLS:C1336009" MONDO:0044872 "NCIT:C53439" MONDO:0019485 "SCTID:230407006" -MONDO:0019485 "ICD10:G40.4" +MONDO:0019485 "ICD10CM:G40.4" MONDO:0019485 "Orphanet:86908" -MONDO:0008575 "ICD10:F17.2" MONDO:0008575 "DOID:0050742" MONDO:0008575 "MESH:D014029" MONDO:0008575 "SCTID:56294008" -MONDO:0008575 "ICD10:F17.20" MONDO:0008575 "OMIM:188890" -MONDO:0008575 "ICD10:F17" +MONDO:0008575 "ICD10CM:F17" MONDO:0008575 "EFO:0003768" MONDO:0008575 "NCIT:C54203" MONDO:0008575 "ICD9:305.1" MONDO:0016367 "UMLS:C0011633" +MONDO:0016367 "ICD10CM:M33.1" MONDO:0016367 "ICD9:710.3" MONDO:0016367 "MedDRA:10012503" MONDO:0016367 "EFO:0000398" -MONDO:0016367 "ICD10:M33.9" MONDO:0016367 "NCIT:C26744" -MONDO:0016367 "ICD10:M33.1" -MONDO:0016367 "ICD10:M33.0" -MONDO:0016367 "ICD10:M33" -MONDO:0016367 "ICD10:M33.90" +MONDO:0016367 "ICD10CM:M33.0" MONDO:0016367 "MESH:D003882" MONDO:0016367 "Orphanet:221" MONDO:0016367 "DOID:10223" MONDO:0016367 "SCTID:396230008" MONDO:0016367 "GARD:0006263" MONDO:0019314 "Orphanet:79455" -MONDO:0019314 "ICD10:Q82.2" +MONDO:0019314 "ICD10CM:Q82.2" MONDO:0019314 "GARD:0012687" MONDO:0018640 "Orphanet:445197" CL:0000980 "FMA:84371" MONDO:0014688 "OMIM:616546" MONDO:0014688 "UMLS:C4225286" -MONDO:0014688 "ICD10:Q04.3" MONDO:0014688 "DOID:0110096" MONDO:0007378 "SCTID:29504002" MONDO:0007378 "Orphanet:98973" @@ -99597,7 +97107,6 @@ MONDO:0007378 "UMLS:CN029625" MONDO:0007378 "DOID:0110855" MONDO:0007378 "ICD9:371.58" MONDO:0007378 "OMIM:122000" -MONDO:0007378 "ICD10:H18.50" MONDO:0000452 "SCTID:230374002" MONDO:0000452 "DOID:0050785" MONDO:0000452 "UMLS:C0393666" @@ -99607,16 +97116,14 @@ MONDO:0006355 "UMLS:C1335353" MONDO:0006355 "NCIT:C5933" MONDO:0014267 "Orphanet:397787" MONDO:0014267 "UMLS:C3810043" -MONDO:0014267 "ICD10:D81.2" MONDO:0014267 "OMIM:615592" +MONDO:0014267 "ICD10CM:D81.2" MONDO:0006008 "UMLS:C0751908" -MONDO:0006008 "ICD10:H81.20" +MONDO:0006008 "ICD10CM:H81.2" MONDO:0006008 "SCTID:186738001" MONDO:0006008 "MESH:D020338" MONDO:0006008 "DOID:12683" MONDO:0006008 "ICD9:386.12" -MONDO:0006008 "ICD10:A88.1" -MONDO:0006008 "ICD10:H81.2" MONDO:0006008 "EFO:0007537" MONDO:0006008 "ICD9:078.81" MONDO:0011701 "MESH:C564680" @@ -99626,7 +97133,6 @@ MONDO:0011701 "OMIM:606675" MONDO:0016296 "OMIM:612530" MONDO:0016296 "OMIM:610828" MONDO:0016296 "OMIM:609408" -MONDO:0016296 "ICD10:Q04.2" MONDO:0016296 "UMLS:C0079541" MONDO:0016296 "OMIMPS:236100" MONDO:0016296 "OMIM:157170" @@ -99644,38 +97150,37 @@ MONDO:0016296 "OMIM:614226" MONDO:0016296 "DOID:4621" MONDO:0016296 "Orphanet:2162" MONDO:0016296 "MedDRA:10056304" +MONDO:0016296 "ICD10CM:Q04.2" MONDO:0016296 "OMIM:142945" MONDO:0014984 "UMLS:C4310653" MONDO:0014984 "OMIM:617241" MONDO:0010943 "DOID:0070080" MONDO:0010943 "UMLS:C1833247" MONDO:0010943 "OMIM:600850" -MONDO:0019672 "ICD10:Q72.6" MONDO:0019672 "Orphanet:93323" MONDO:0016682 "UMLS:C0334588" MONDO:0016682 "Orphanet:251579" MONDO:0016682 "ICDO:9441/3" +MONDO:0016682 "ICD10CM:C71.9" MONDO:0016682 "DOID:3074" MONDO:0016682 "UMLS:C0334593" -MONDO:0016682 "ICD10:C71.9" MONDO:0016682 "NCIT:C4325" MONDO:0009709 "Orphanet:169186" MONDO:0009709 "DOID:0111220" MONDO:0009709 "OMIM:255200" MONDO:0009709 "MESH:C562934" MONDO:0012118 "OMIM:608779" -MONDO:0012118 "ICD10:E77.8" MONDO:0012118 "GARD:0009842" MONDO:0012118 "SCTID:717773005" +MONDO:0012118 "ICD10CM:E77.8" MONDO:0012118 "MESH:C535754" MONDO:0012118 "Orphanet:79333" -MONDO:0001854 "ICD10:H04.9" MONDO:0001854 "ICD9:375" MONDO:0001854 "MESH:D007766" MONDO:0001854 "ICD9:375.9" MONDO:0001854 "DOID:1400" -MONDO:0001854 "ICD10:H04" MONDO:0001854 "NCIT:C26809" +MONDO:0001854 "ICD10CM:H00-H05" MONDO:0001854 "ICD9:375.69" MONDO:0001854 "SCTID:31053003" MONDO:0001854 "ICD9:375.89" @@ -99692,14 +97197,13 @@ MONDO:0007796 "UMLS:C1832648" MONDO:0007796 "Orphanet:2238" MONDO:0007449 "Orphanet:1660" MONDO:0007449 "GARD:0001816" -MONDO:0007449 "ICD10:Q82.4" MONDO:0007449 "SCTID:721091003" MONDO:0007449 "UMLS:C1852144" +MONDO:0007449 "ICD10CM:Q82.4" MONDO:0007449 "MESH:C565103" MONDO:0007449 "UMLS:C4303591" MONDO:0007449 "OMIM:125640" MONDO:0032789 "OMIM:618504" -MONDO:0001914 "ICD10:H15.05" MONDO:0001914 "ICD9:379.04" MONDO:0001914 "SCTID:26664005" MONDO:0001914 "DOID:14230" @@ -99713,27 +97217,25 @@ MONDO:0010826 "OMIM:611136" MONDO:0010826 "Orphanet:64280" MONDO:0010826 "SCTID:50866000" MONDO:0010826 "OMIMPS:600131" -MONDO:0010826 "ICD10:G40.A" MONDO:0010826 "OMIM:611942" MONDO:0010826 "DOID:1825" -MONDO:0010826 "ICD10:G40.3" +MONDO:0010826 "ICD10CM:G40.3" MONDO:0010826 "OMIM:612269" MONDO:0010826 "OMIM:607681" MONDO:0019743 "UMLS:CN206659" MONDO:0019743 "Orphanet:93593" MONDO:0020225 "Orphanet:98641" MONDO:0020225 "UMLS:CN227829" +MONDO:0013559 "ICD10CM:E70.3" MONDO:0013559 "OMIM:614076" MONDO:0013559 "Orphanet:231531" MONDO:0013559 "Orphanet:79430" MONDO:0013559 "DOID:0060545" MONDO:0013559 "UMLS:C3279756" -MONDO:0013559 "ICD10:E70.3" MONDO:0008833 "OMIM:208540" MONDO:0008833 "UMLS:C3715199" MONDO:0008833 "UMLS:C2673883" MONDO:0008833 "Orphanet:294415" -MONDO:0004584 "ICD10:J67.6" MONDO:0004584 "UMLS:C0155890" MONDO:0004584 "SCTID:86638007" MONDO:0004584 "DOID:8484" @@ -99747,10 +97249,9 @@ MONDO:0002150 "ICD9:253.9" MONDO:0001045 "DOID:10486" MONDO:0001045 "HP:0011100" MONDO:0001045 "UMLS:C0021828" -MONDO:0001045 "ICD10:Q41.1" MONDO:0001045 "NCIT:C84790" MONDO:0000275 "DOID:0050177" -MONDO:0017745 "ICD10:E77.8" +MONDO:0017745 "ICD10CM:E77.8" MONDO:0017745 "Orphanet:309469" MONDO:0017745 "UMLS:CN227192" MONDO:0032577 "OMIM:618173" @@ -99758,12 +97259,12 @@ MONDO:0021390 "NCIT:C4530" MONDO:0021390 "SCTID:197821004" MONDO:0021390 "UMLS:C0346269" MONDO:0021390 "ICD9:593.89" -MONDO:0001221 "ICD10:I85" +MONDO:0001221 "ICD10CM:I85.01" MONDO:0001221 "SCTID:17709002" MONDO:0001221 "MESH:D004932" MONDO:0001221 "ICD9:456.2" MONDO:0001221 "ICD9:456.0" -MONDO:0001221 "ICD10:I85.01" +MONDO:0001221 "ICD10CM:I85" MONDO:0001221 "NCIT:C53506" MONDO:0001221 "ICD9:456.20" MONDO:0001221 "SCTID:28670008" @@ -99771,7 +97272,6 @@ MONDO:0001221 "GARD:0006384" MONDO:0001221 "NCIT:C78282" MONDO:0001221 "DOID:112" MONDO:0006835 "GARD:0009147" -MONDO:0006835 "ICD10:N04" MONDO:0006835 "NCIT:C34844" MONDO:0006835 "UMLS:C0027721" MONDO:0006835 "SCTID:44785005" @@ -99799,18 +97299,18 @@ MONDO:0014163 "Orphanet:154" MONDO:0024613 "SCTID:191627008" MONDO:0024613 "NCIT:C34424" MONDO:0012504 "GARD:0010012" +MONDO:0012504 "ICD10CM:Q87.2" MONDO:0012504 "DOID:0111160" MONDO:0012504 "Orphanet:85164" MONDO:0012504 "UMLS:C1864852" -MONDO:0012504 "ICD10:Q87.2" MONDO:0012504 "OMIM:610474" MONDO:0012504 "MESH:C537975" -MONDO:0030910 "UMLS:CN368509" -MONDO:0030910 "OMIM:617600" -MONDO:0030910 "DOID:0080236" MONDO:0004467 "UMLS:C1334635" MONDO:0004467 "NCIT:C5260" MONDO:0004467 "DOID:8118" +MONDO:0030910 "UMLS:CN368509" +MONDO:0030910 "OMIM:617600" +MONDO:0030910 "DOID:0080236" MONDO:0022792 "GARD:0005168" MONDO:0005166 "HP:0100246" MONDO:0005166 "ICDO:9180/0" @@ -99819,10 +97319,10 @@ MONDO:0005166 "MESH:D010016" MONDO:0005166 "UMLS:C0029440" MONDO:0005166 "SCTID:302858007" MONDO:0005166 "NCIT:C3296" -MONDO:0004877 "ICD10:P61.0" MONDO:0004877 "DOID:9771" MONDO:0004877 "ICD9:776.1" MONDO:0004877 "UMLS:C0158991" +MONDO:0004877 "ICD10CM:P61.0" MONDO:0004877 "SCTID:23205009" MONDO:0005823 "Orphanet:549" MONDO:0005823 "MESH:D007876" @@ -99834,35 +97334,34 @@ MONDO:0005823 "UMLS:CN205282" MONDO:0005823 "SCTID:26726000" MONDO:0005823 "DOID:10458" MONDO:0005823 "NCIT:C128334" -MONDO:0005823 "ICD10:A48.1" MONDO:0005823 "EFO:0007342" CL:0002350 "FMA:75621" MONDO:0008542 "Orphanet:3303" MONDO:0008542 "GARD:0002245" -MONDO:0008542 "ICD10:Q21.3" MONDO:0008542 "MESH:D013771" MONDO:0008542 "NCIT:C84505" MONDO:0008542 "OMIM:187500" MONDO:0008542 "DOID:6419" MONDO:0008542 "SCTID:86299006" MONDO:0008542 "UMLS:C0039685" +MONDO:0008542 "ICD10CM:Q21.3" MONDO:0008542 "ICD9:745.2" MONDO:0008542 "MedDRA:10016193" -MONDO:0023601 "MESH:C537877" -MONDO:0023601 "UMLS:C0342467" -MONDO:0023601 "NCIT:C131442" MONDO:0001442 "EFO:0008623" MONDO:0001442 "MESH:D019263" MONDO:0001442 "DOID:12139" +MONDO:0001442 "ICD10CM:F34.1" MONDO:0001442 "ICD9:300.4" MONDO:0001442 "NCIT:C34562" -MONDO:0001442 "ICD10:F34.1" MONDO:0001442 "SCTID:78667006" +MONDO:0023601 "MESH:C537877" +MONDO:0023601 "UMLS:C0342467" +MONDO:0023601 "NCIT:C131442" +MONDO:0007345 "ICD10CM:Q25.1" MONDO:0007345 "SCTID:7305005" MONDO:0007345 "OMIM:120000" MONDO:0007345 "MedDRA:10009807" MONDO:0007345 "NCIT:C84567" -MONDO:0007345 "ICD10:Q25.1" MONDO:0007345 "MESH:D001017" MONDO:0007345 "Orphanet:1457" MONDO:0007345 "UMLS:C0003492" @@ -99876,20 +97375,20 @@ MONDO:0003090 "UMLS:C0238019" MONDO:0003090 "SCTID:372101000" MONDO:0003090 "NCIT:C3860" MONDO:0003090 "DOID:4682" -MONDO:0015974 "DOID:627" -MONDO:0015974 "ICD10:D81.9" -MONDO:0015974 "ICD10:D81.3" +MONDO:0015974 "Orphanet:183660" +MONDO:0015974 "ICD10CM:D81.3" +MONDO:0015974 "ICD10CM:D81.9" +MONDO:0015974 "ICD10CM:D81.2" +MONDO:0015974 "GARD:0007628" MONDO:0015974 "MedDRA:10069566" -MONDO:0015974 "MESH:D016511" MONDO:0015974 "UMLS:C0085110" -MONDO:0015974 "ICD10:D81.2" -MONDO:0015974 "GARD:0007628" +MONDO:0015974 "MESH:D016511" +MONDO:0015974 "ICD10CM:D81.1" MONDO:0015974 "NCIT:C3472" MONDO:0015974 "HP:0004430" +MONDO:0015974 "DOID:627" +MONDO:0015974 "ICD10CM:D81.0" MONDO:0015974 "SCTID:31323000" -MONDO:0015974 "ICD10:D81.0" -MONDO:0015974 "ICD10:D81.1" -MONDO:0015974 "Orphanet:183660" MONDO:0005049 "NCIT:C50438" MONDO:0005049 "MESH:D020300" MONDO:0005049 "EFO:0000551" @@ -99901,34 +97400,32 @@ MONDO:0001509 "SCTID:276177000" MONDO:0001509 "DOID:12359" MONDO:0028742 "Orphanet:498451" MONDO:0003709 "EFO:1001872" -MONDO:0003709 "ICD10:F40.00" -MONDO:0003709 "ICD10:F40.0" MONDO:0003709 "NCIT:C34362" MONDO:0003709 "DOID:593" +MONDO:0003709 "ICD10CM:F40.0" MONDO:0003709 "MESH:D000379" MONDO:0003709 "SCTID:70691001" CL:1000443 "FMA:70610" HP:0007707 "UMLS:C1853230" HP:0007707 "MSH:C537786" +MONDO:0008425 "ICD10CM:Q79.2" MONDO:0008425 "GARD:0009850" -MONDO:0008425 "ICD10:Q79.2" MONDO:0008425 "SCTID:716230005" MONDO:0008425 "MESH:C537329" MONDO:0008425 "Orphanet:3164" MONDO:0008425 "UMLS:C1866958" MONDO:0008425 "OMIM:182210" -MONDO:0009983 "OMIM:268020" -MONDO:0009983 "UMLS:C1849401" -MONDO:0009983 "Orphanet:3085" -MONDO:0009983 "GARD:0004683" -MONDO:0009983 "MESH:C564841" -MONDO:0009983 "ICD10:Q87.8" MONDO:0002844 "DOID:4035" MONDO:0002844 "SCTID:360375007" MONDO:0002844 "ICD9:535.40" MONDO:0002844 "UMLS:C1283271" MONDO:0002844 "NCIT:C27051" -MONDO:0012088 "ICD10:Q34.8" +MONDO:0009983 "OMIM:268020" +MONDO:0009983 "UMLS:C1849401" +MONDO:0009983 "Orphanet:3085" +MONDO:0009983 "GARD:0004683" +MONDO:0009983 "ICD10CM:Q87.8" +MONDO:0009983 "MESH:C564841" MONDO:0012088 "MESH:C563886" MONDO:0012088 "OMIM:608647" MONDO:0012088 "DOID:0110617" @@ -99941,7 +97438,6 @@ MONDO:0007228 "OMIM:113470" MONDO:0007228 "MESH:C537096" MONDO:0007228 "UMLS:C1862084" MONDO:0007228 "GARD:0000988" -MONDO:0001717 "ICD10:H18.05" MONDO:0001717 "ICD9:371.13" MONDO:0001717 "SCTID:267639001" MONDO:0001717 "DOID:13448" @@ -99950,8 +97446,8 @@ MONDO:0044651 "Orphanet:496756" MONDO:0016146 "UMLS:CN043575" MONDO:0016146 "Orphanet:207078" NCBITaxon:333774 "GC_ID:1" -MONDO:0019346 "ICD10:E77.1" MONDO:0019346 "GARD:0007639" +MONDO:0019346 "ICD10CM:E77.1" MONDO:0019346 "UMLS:CN206021" MONDO:0019346 "Orphanet:812" MONDO:0019346 "OMIM:256550" @@ -99962,16 +97458,15 @@ MONDO:0009827 "UMLS:C1850103" MONDO:0009827 "OMIM:260130" PO:0030108 "PO_GIT:652" NCBITaxon:33354 "GC_ID:1" -MONDO:0019522 "ICD10:Q81.2" MONDO:0019522 "Orphanet:89842" MONDO:0019522 "GARD:0012794" +MONDO:0019522 "ICD10CM:Q81.2" MONDO:0019522 "UMLS:CN206337" MONDO:0012010 "OMIM:608318" MONDO:0012010 "UMLS:C1842258" MONDO:0014853 "UMLS:C4310775" MONDO:0014853 "OMIM:616968" MONDO:0014853 "DOID:0110592" -MONDO:0014853 "ICD10:H90.3" MONDO:0004016 "NCIT:C6754" MONDO:0004016 "UMLS:C1335417" MONDO:0004016 "DOID:6857" @@ -99979,20 +97474,19 @@ MONDO:0006216 "UMLS:C0238137" MONDO:0006216 "NCIT:C7720" MONDO:0006216 "DOID:0050893" MONDO:0006216 "EFO:1000263" +MONDO:0019932 "ICD10CM:Q52.0" MONDO:0019932 "SCTID:87380008" -MONDO:0019932 "ICD10:Q52.0" MONDO:0019932 "Orphanet:96269" MONDO:0023595 "NCIT:C123308" MONDO:0023595 "GARD:0009134" MONDO:0023595 "UMLS:C0410226" MONDO:0018735 "NCIT:C60672" +MONDO:0018735 "ICD10CM:D18.1" MONDO:0018735 "UMLS:CN242151" -MONDO:0018735 "ICD10:D18.1" MONDO:0018735 "Orphanet:464321" MONDO:0018735 "GARD:0010467" HP:0011767 "UMLS:C4023198" MONDO:0016461 "UMLS:CN201426" -MONDO:0016461 "ICD10:Q92.3" MONDO:0016461 "UMLS:C4304526" MONDO:0016461 "Orphanet:228415" MONDO:0016461 "SCTID:719665003" @@ -100000,7 +97494,6 @@ MONDO:0007094 "DOID:0110054" MONDO:0007094 "Orphanet:88661" MONDO:0007094 "OMIM:104530" MONDO:0007094 "Orphanet:100031" -MONDO:0007094 "ICD10:K00.5" MONDO:0007094 "GARD:0000645" MONDO:0007094 "MESH:C538240" MONDO:0019978 "OMIM:616331" @@ -100008,17 +97501,17 @@ MONDO:0019978 "OMIM:268310" MONDO:0019978 "OMIM:180700" MONDO:0019978 "GARD:0000312" MONDO:0019978 "UMLS:C0265205" +MONDO:0019978 "ICD10CM:Q87.1" MONDO:0019978 "UMLS:CN776872" MONDO:0019978 "SCTID:76520005" MONDO:0019978 "NCIT:C85048" MONDO:0019978 "OMIMPS:268310" MONDO:0019978 "Orphanet:97360" MONDO:0019978 "DOID:0060254" -MONDO:0019978 "ICD10:Q87.1" MONDO:0019978 "OMIM:616894" MONDO:0014221 "OMIM:615512" -MONDO:0014221 "ICD10:D55.2" MONDO:0014221 "UMLS:C1860808" +MONDO:0014221 "ICD10CM:D55.2" MONDO:0014221 "SCTID:234405009" MONDO:0014221 "ICD9:282.3" MONDO:0014221 "MESH:C566029" @@ -100030,22 +97523,22 @@ MONDO:0012895 "MESH:C567319" MONDO:0012895 "OMIM:612406" MONDO:0012895 "UMLS:C2676281" MONDO:0012895 "DOID:0090042" -MONDO:0012895 "ICD10:G24.1" +MONDO:0012895 "ICD10CM:G24.1" MONDO:0012895 "Orphanet:370103" MONDO:0013841 "OMIM:614655" MONDO:0013841 "UMLS:C3553381" HP:0100035 "UMLS:C0751901" HP:0100035 "MSH:D020323" MONDO:0019815 "Orphanet:95462" -MONDO:0019815 "ICD10:Q22.8" -MONDO:0020227 "UMLS:C0339369" -MONDO:0020227 "Orphanet:98643" +MONDO:0019815 "ICD10CM:Q22.8" MONDO:0015566 "SCTID:719658006" MONDO:0015566 "UMLS:CN036809" MONDO:0015566 "Orphanet:1617" -MONDO:0015566 "ICD10:Q93.5" +MONDO:0015566 "ICD10CM:Q93.5" MONDO:0015566 "GARD:0003746" MONDO:0015566 "MESH:C538316" +MONDO:0020227 "UMLS:C0339369" +MONDO:0020227 "Orphanet:98643" MONDO:0006908 "Orphanet:95613" MONDO:0006908 "UMLS:C0032001" MONDO:0006908 "MedDRA:10056447" @@ -100053,15 +97546,14 @@ MONDO:0006908 "NCIT:C26853" MONDO:0006908 "DOID:1129" MONDO:0006908 "SCTID:237701005" MONDO:0006908 "ICD9:253.8" -MONDO:0006908 "ICD10:E23.6" +MONDO:0006908 "ICD10CM:E23.6" MONDO:0006908 "EFO:1001108" MONDO:0006908 "MESH:D010899" MONDO:0004656 "EFO:1002026" MONDO:0004656 "GARD:0004742" -MONDO:0004656 "ICD10:B06" MONDO:0004656 "UMLS:C0035920" MONDO:0004656 "SCTID:36653000" -MONDO:0004656 "ICD10:B06.9" +MONDO:0004656 "ICD10CM:B06" MONDO:0004656 "NCIT:C85051" MONDO:0004656 "ICD9:056" MONDO:0004656 "DOID:8781" @@ -100069,9 +97561,9 @@ MONDO:0004656 "MESH:D012409" MONDO:0018618 "Orphanet:443090" MONDO:0020004 "Orphanet:97966" MONDO:0020004 "UMLS:CN206937" +MONDO:0019191 "ICD10CM:K11.8" MONDO:0019191 "MESH:D008882" MONDO:0019191 "UMLS:C0026103" -MONDO:0019191 "ICD10:K11.8" MONDO:0019191 "NCIT:C34819" MONDO:0019191 "Orphanet:79078" MONDO:0019191 "SCTID:7826003" @@ -100092,13 +97584,13 @@ MONDO:0019169 "OMIM:312170" MONDO:0019169 "OMIM:245348" MONDO:0019169 "ICD9:277.89" MONDO:0019169 "DOID:3649" -MONDO:0019169 "ICD10:E74.4" MONDO:0019169 "Orphanet:765" MONDO:0019169 "NCIT:C103968" MONDO:0019169 "SCTID:46683007" MONDO:0019169 "GARD:0007513" MONDO:0019169 "OMIM:245349" MONDO:0019169 "Orphanet:79243" +MONDO:0019169 "ICD10CM:E74.4" MONDO:0019169 "SCTID:124593001" MONDO:0019169 "OMIM:608782" MONDO:0019169 "OMIMPS:312170" @@ -100111,13 +97603,12 @@ MONDO:0009157 "UMLS:C2749665" MONDO:0009157 "MESH:C567616" MONDO:0009157 "Orphanet:2440" MONDO:0009157 "OMIM:225300" -MONDO:0009157 "ICD10:Q71.6" MONDO:0009157 "UMLS:C0265554" MONDO:0009157 "DOID:0090026" +MONDO:0015753 "ICD10CM:G71.2" MONDO:0015753 "GARD:0011915" MONDO:0015753 "MESH:C579969" MONDO:0015753 "UMLS:C3710589" -MONDO:0015753 "ICD10:G71.2" MONDO:0015753 "OMIM:609285" MONDO:0015753 "OMIM:609284" MONDO:0015753 "Orphanet:171881" @@ -100126,7 +97617,6 @@ MONDO:0006386 "EFO:1000494" MONDO:0006386 "UMLS:C1514429" MONDO:0006386 "NCIT:C40023" MONDO:0012506 "MESH:C566471" -MONDO:0012506 "ICD10:I42.8" MONDO:0012506 "OMIM:610476" MONDO:0012506 "DOID:0110082" MONDO:0012506 "Orphanet:217656" @@ -100135,15 +97625,14 @@ MONDO:0006039 "NCIT:C78359" MONDO:0006039 "SCTID:39341005" MONDO:0006039 "EFO:1000035" MONDO:0017606 "GARD:0007525" -MONDO:0017606 "ICD10:B02.2+" +MONDO:0017606 "ICD10EXP:G53.0*" MONDO:0017606 "Orphanet:3020" -MONDO:0017606 "ICD10:G53.0*" -MONDO:0007113 "ICD10:Q93.5" +MONDO:0017606 "ICD10EXP:B02.2+" MONDO:0007113 "GARD:0005810" MONDO:0007113 "ICD9:759.89" MONDO:0007113 "Orphanet:72" -MONDO:0007113 "ICD10:Q93.51" MONDO:0007113 "MESH:D017204" +MONDO:0007113 "ICD10CM:Q93.5" MONDO:0007113 "MedDRA:10049004" MONDO:0007113 "SCTID:76880004" MONDO:0007113 "UMLS:C0162635" @@ -100151,19 +97640,20 @@ MONDO:0007113 "OMIM:105830" MONDO:0007113 "DOID:1932" MONDO:0007113 "NCIT:C75462" MONDO:0007113 "MESH:C531619" +MONDO:0007113 "ICD10CM:Q93.51" CL:0000171 "FMA:70585" CL:0000171 "BTO:0000990" -MONDO:0004727 "ICD10:C06.1" MONDO:0004727 "SCTID:187658004" +MONDO:0004727 "ICD10CM:C06.1" MONDO:0004727 "UMLS:C0153374" MONDO:0004727 "DOID:9188" MONDO:0004727 "ICD9:145.1" -MONDO:0020499 "ICD10:A98.8" +MONDO:0020499 "ICD10CM:A98.8" MONDO:0020499 "UMLS:CN207389" MONDO:0020499 "DOID:0050192" MONDO:0020499 "Orphanet:99825" +MONDO:0016890 "ICD10CM:Q93.5" MONDO:0016890 "MESH:C537826" -MONDO:0016890 "ICD10:Q93.5" MONDO:0016890 "GARD:0003768" MONDO:0016890 "Orphanet:261920" MONDO:0009415 "EFO:0006856" @@ -100177,10 +97667,9 @@ MONDO:0013078 "OMIM:613006" MONDO:0013078 "DOID:0110761" MONDO:0013078 "UMLS:C2751697" MONDO:0013078 "MESH:C567818" -MONDO:0013078 "ICD10:E10" MONDO:0011766 "UMLS:C2751325" MONDO:0011766 "MESH:C567773" -MONDO:0011766 "ICD10:Q56.1" +MONDO:0011766 "ICD10CM:Q56.1" MONDO:0011766 "Orphanet:168563" MONDO:0011766 "OMIM:607080" MONDO:0010512 "OMIM:300986" @@ -100188,7 +97677,6 @@ MONDO:0010512 "UMLS:C4310814" MONDO:0023016 "GARD:0001976" MONDO:0100391 "NCIT:C173543" MONDO:0008145 "SCTID:268274005" -MONDO:0008145 "ICD10:Q78.4" MONDO:0008145 "UMLS:C0014084" MONDO:0008145 "SCTID:46041001" MONDO:0008145 "MedDRA:10014642" @@ -100203,25 +97691,24 @@ MONDO:0008145 "NCIT:C3008" MONDO:0008145 "DOID:4624" NCBITaxon:27973 "GC_ID:1" MONDO:0033968 "Orphanet:529977" -MONDO:0018210 "OMIM:203450" -MONDO:0018210 "UMLS:CN204730" -MONDO:0018210 "ICD10:E75.2" -MONDO:0018210 "Orphanet:363722" MONDO:0015824 "OMIM:600251" MONDO:0015824 "Orphanet:1794" MONDO:0015824 "UMLS:C1838348" -MONDO:0015824 "ICD10:Q75.1" +MONDO:0015824 "ICD10CM:Q75.1" MONDO:0015824 "MESH:C537736" MONDO:0015824 "GARD:0004046" MONDO:0015824 "SCTID:763830009" +MONDO:0018210 "ICD10CM:E75.2" +MONDO:0018210 "OMIM:203450" +MONDO:0018210 "UMLS:CN204730" +MONDO:0018210 "Orphanet:363722" MONDO:0013947 "Orphanet:314485" MONDO:0013947 "UMLS:C3553989" +MONDO:0013947 "ICD10CM:G12.2" MONDO:0013947 "OMIM:614881" -MONDO:0013947 "ICD10:G12.2" MONDO:0004914 "UMLS:C1861783" MONDO:0004914 "MESH:C566151" MONDO:0004914 "DOID:9892" -MONDO:0004914 "ICD10:I77.4" MONDO:0004914 "SCTID:9250002" MONDO:0004914 "ICD9:447.4" MONDO:0004914 "GARD:0012308" @@ -100229,7 +97716,7 @@ MONDO:0004914 "OMIM:116870" MONDO:0000665 "DOID:0060135" MONDO:0000665 "MESH:D001072" MONDO:0000665 "GARD:0005838" -MONDO:0000665 "ICD10:R48.2" +MONDO:0000665 "ICD10CM:R48.2" MONDO:0022863 "GARD:0001526" MONDO:0011953 "Orphanet:88619" MONDO:0011953 "UMLS:C4509836" @@ -100246,16 +97733,16 @@ MONDO:0007510 "Orphanet:189" MONDO:0007510 "GARD:0002056" MONDO:0007510 "SCTID:54209007" MONDO:0007510 "DOID:14693" -MONDO:0007510 "ICD10:Q82.8" +MONDO:0007510 "ICD10CM:Q82.8" MONDO:0007510 "GARD:0004253" MONDO:0024457 "GARD:0002751" MONDO:0024457 "GARD:0003957" MONDO:0024457 "Orphanet:35069" -MONDO:0024457 "ICD10:G23.0" MONDO:0024457 "DOID:0110735" MONDO:0024457 "SCTID:52713000" MONDO:0024457 "OMIM:256600" MONDO:0024457 "MESH:C536071" +MONDO:0024457 "ICD10CM:G23.0" MONDO:0024457 "OMIM:610217" MONDO:0024457 "NCIT:C84927" MONDO:0024457 "ICD9:330.8" @@ -100277,37 +97764,34 @@ MONDO:0001247 "SCTID:25501002" MONDO:0001247 "MESH:D010698" MONDO:0001247 "NCIT:C34927" MONDO:0001247 "ICD9:300.23" -MONDO:0001247 "ICD10:F40.10" MONDO:0001247 "EFO:1001917" -MONDO:0001247 "ICD10:F40.1" MONDO:0001247 "DOID:11257" MONDO:0021245 "EFO:0003868" MONDO:0021245 "UMLS:C0026640" MONDO:0021245 "NCIT:C7606" MONDO:0021245 "SCTID:235075007" MONDO:0016556 "Orphanet:238699" -MONDO:0016556 "ICD10:P72.2" +MONDO:0016556 "ICD10CM:P72.2" NCBITaxon:6448 "GC_ID:1" MONDO:0007846 "MESH:C537015" MONDO:0007846 "GARD:0000082" MONDO:0007846 "OMIM:148050" MONDO:0007846 "SCTID:711156009" MONDO:0007846 "DOID:14780" -MONDO:0007846 "ICD10:Q87.8" MONDO:0007846 "UMLS:C0220687" MONDO:0007846 "Orphanet:2332" MONDO:0007846 "ICD9:759.89" +MONDO:0007846 "ICD10CM:Q87.8" MONDO:0032839 "OMIM:618624" MONDO:0014456 "OMIM:616022" -MONDO:0014456 "ICD10:D70" +MONDO:0014456 "ICD10CM:D70" MONDO:0014456 "UMLS:C4014954" MONDO:0014456 "Orphanet:423384" MONDO:0016311 "Orphanet:217008" +MONDO:0016311 "ICD10CM:Q27.4" MONDO:0016311 "GARD:0013063" MONDO:0016311 "UMLS:CN201119" -MONDO:0016311 "ICD10:Q27.4" MONDO:0030936 "OMIM:619191" -MONDO:0011272 "ICD10:H35.5" MONDO:0011272 "GARD:0010384" MONDO:0011272 "UMLS:C1864446" MONDO:0011272 "OMIM:602772" @@ -100318,17 +97802,14 @@ MONDO:0001152 "NCIT:C2867" MONDO:0001152 "DOID:10914" MONDO:0001152 "EFO:1001454" MONDO:0001152 "SCTID:3298001" -MONDO:0001152 "ICD10:R41.3" -MONDO:0018380 "ICD10:M87.0" MONDO:0018380 "Orphanet:399307" MONDO:0014714 "Orphanet:477814" MONDO:0014714 "OMIM:616632" MONDO:0014714 "UMLS:C4225261" MONDO:0002688 "DOID:3558" MONDO:0002688 "NCIT:C79548" -MONDO:0002688 "ICD10:K31.5" -MONDO:0002688 "UMLS:C0013292" MONDO:0002688 "MESH:D004380" +MONDO:0002688 "UMLS:C0013292" MONDO:0002688 "SCTID:95532008" MONDO:0002688 "EFO:1000908" MONDO:0016439 "ICD9:701.8" @@ -100357,33 +97838,31 @@ MONDO:0010327 "Orphanet:391417" MONDO:0010327 "OMIM:300438" MONDO:0010327 "MESH:C564560" MONDO:0010327 "OMIM:300220" -MONDO:0010327 "ICD10:E72.8" -MONDO:0010327 "ICD10:G25.5" MONDO:0010327 "SCTID:791000124107" MONDO:0010327 "DOID:0060810" MONDO:0010327 "UMLS:CN204973" MONDO:0010327 "UMLS:C1846168" +MONDO:0010327 "ICD10CM:G25.5" +MONDO:0010327 "ICD10CM:E72.8" MONDO:0017043 "UMLS:C1332965" MONDO:0017043 "MedDRA:10070665" MONDO:0017043 "MESH:D018201" MONDO:0017043 "Orphanet:2665" MONDO:0017043 "DOID:4773" MONDO:0017043 "SCTID:307604008" +MONDO:0017043 "ICD10CM:D41.0" MONDO:0017043 "NCIT:C6569" MONDO:0017043 "ICDO:8960/1" MONDO:0017043 "GARD:0001493" -MONDO:0017043 "ICD10:D41.0" MONDO:0023290 "GARD:0002567" MONDO:0015427 "Orphanet:1431" MONDO:0015427 "ICD9:333.5" -MONDO:0015427 "ICD10:G24.8" +MONDO:0015427 "ICD10CM:G24.8" MONDO:0015427 "SCTID:49949003" FOODON:03400352 "http://www.langual.org/langual_thesaurus.asp?termid=A0352" -MONDO:0015603 "UMLS:CN226712" -MONDO:0015603 "Orphanet:164001" -MONDO:0009007 "ICD10:H35.5" MONDO:0009007 "UMLS:C3495589" MONDO:0009007 "MESH:C000596385" +MONDO:0009007 "ICD10CM:H35.5" MONDO:0009007 "OMIM:217080" MONDO:0009007 "Orphanet:1873" MONDO:0009007 "SCTID:707608003" @@ -100392,16 +97871,18 @@ MONDO:0009007 "DOID:0111404" MONDO:0009007 "UMLS:CN200616" MONDO:0009007 "ICD9:520.5" MONDO:0009007 "ICD9:362.75" -MONDO:0005110 "EFO:0000767" -MONDO:0005110 "NCIT:C53654" -MONDO:0013726 "DOID:0070347" +MONDO:0015603 "UMLS:CN226712" +MONDO:0015603 "Orphanet:164001" +MONDO:0013726 "ICD10CM:G31.8" MONDO:0013726 "Orphanet:330050" -MONDO:0013726 "ICD10:G31.8" MONDO:0013726 "OMIM:614388" MONDO:0013726 "UMLS:C3280660" +MONDO:0013726 "DOID:0070347" +MONDO:0005110 "EFO:0000767" +MONDO:0005110 "NCIT:C53654" MONDO:0008291 "OMIM:175850" MONDO:0008291 "SCTID:718218005" -MONDO:0008291 "ICD10:Q82.8" +MONDO:0008291 "ICD10CM:Q82.8" MONDO:0008291 "Orphanet:737" MONDO:0010104 "SCTID:723442008" MONDO:0010104 "GARD:0005027" @@ -100415,13 +97896,13 @@ MONDO:0020781 "EFO:0009158" MONDO:0011662 "ICD9:312.31" MONDO:0011662 "OMIM:606349" MONDO:0011662 "MESH:D005715" +MONDO:0011662 "ICD10CM:F63.0" MONDO:0011662 "SCTID:18085000" MONDO:0011662 "DOID:12399" -MONDO:0011662 "ICD10:F63.0" MONDO:0011662 "EFO:1001926" MONDO:0011662 "NCIT:C94335" +MONDO:0004729 "ICD10CM:K22.4" MONDO:0004729 "DOID:9192" -MONDO:0004729 "ICD10:K22.4" MONDO:0004729 "UMLS:C0014858" MONDO:0004729 "EFO:1001785" MONDO:0004729 "SCTID:266434009" @@ -100433,8 +97914,8 @@ HP:0011123 "MSH:D003872" HP:0011123 "MP:0004947" HP:0011123 "UMLS:C3875321" MONDO:0019681 "SCTID:111383007" -MONDO:0019681 "ICD10:E77.1" MONDO:0019681 "Orphanet:93399" +MONDO:0019681 "ICD10CM:E77.1" MONDO:0019681 "UMLS:C0268229" MONDO:0019681 "UMLS:CN206605" MONDO:0003175 "MESH:D003528" @@ -100444,16 +97925,16 @@ MONDO:0003175 "UMLS:C0010606" MONDO:0003175 "UMLS:C0279751" MONDO:0003175 "NCIT:C8026" MONDO:0003175 "GARD:0012346" -MONDO:0016031 "ICD10:Q87.0" MONDO:0016031 "MESH:C536384" MONDO:0016031 "GARD:0002221" MONDO:0016031 "Orphanet:1969" MONDO:0016031 "UMLS:C2931183" +MONDO:0016031 "ICD10CM:Q87.0" NCBITaxon:29263 "GC_ID:1" MONDO:0018484 "DOID:0080193" MONDO:0018484 "GARD:0010993" +MONDO:0018484 "ICD10CM:H83.8" MONDO:0018484 "Orphanet:420402" -MONDO:0018484 "ICD10:H83.8" MONDO:0018484 "SCTID:717799003" MONDO:0011768 "Orphanet:589" MONDO:0011768 "MESH:C564628" @@ -100462,14 +97943,13 @@ MONDO:0011768 "OMIM:607085" MONDO:0010514 "OMIM:300988" MONDO:0010514 "UMLS:C4310812" MONDO:0010514 "Orphanet:504530" -MONDO:0019548 "ICD10:G60.0" +MONDO:0019548 "ICD10CM:G60.0" MONDO:0019548 "Orphanet:90114" MONDO:0019548 "UMLS:CN206376" MONDO:0019548 "GARD:0012436" MONDO:0008638 "OMIM:192200" MONDO:0008638 "MESH:D014648" MONDO:0008638 "SCTID:128060009" -MONDO:0008638 "ICD10:I83.90" MONDO:0008638 "ICD9:454.9" MONDO:0008638 "ICD9:456.8" MONDO:0008638 "NCIT:C35114" @@ -100480,8 +97960,8 @@ MONDO:0006551 "ICD9:704.09" MONDO:0006551 "DOID:9905" MONDO:0006551 "UMLS:C0002173" MONDO:0006551 "SCTID:27382006" -MONDO:0006551 "ICD10:L65.2" MONDO:0006551 "PMID:24350019" +MONDO:0006551 "ICD10CM:L65.2" MONDO:0006551 "MESH:D000507" MONDO:0006551 "EFO:1000701" MONDO:0011545 "UMLS:C1854335" @@ -100495,33 +97975,33 @@ MONDO:0010083 "DOID:0060175" MONDO:0010083 "SCTID:49748000" MONDO:0010083 "MESH:C535803" MONDO:0010083 "OMIM:271980" +MONDO:0010083 "ICD10CM:E72.8" MONDO:0010083 "UMLS:C0268631" -MONDO:0010083 "ICD10:E72.8" MONDO:0010083 "GARD:0007695" MONDO:0021024 "OMIM:611162" MONDO:0015272 "MESH:C537972" MONDO:0015272 "SCTID:733466005" +MONDO:0015272 "ICD10CM:Q68.1" MONDO:0015272 "UMLS:C2931681" -MONDO:0015272 "ICD10:Q68.1" MONDO:0015272 "GARD:0001069" MONDO:0015272 "Orphanet:1325" MONDO:0017472 "Orphanet:295038" -MONDO:0017472 "ICD10:Q74.1" +MONDO:0017472 "ICD10CM:Q74.1" MONDO:0011955 "OMIM:608036" MONDO:0011955 "UMLS:C1842642" MONDO:0011955 "MESH:C564299" -MONDO:0004593 "ICD10:N75.0" MONDO:0004593 "NCIT:C26706" MONDO:0004593 "UMLS:C0004767" MONDO:0004593 "DOID:851" MONDO:0004593 "SCTID:57044006" MONDO:0004593 "ICD9:616.2" +MONDO:0004593 "ICD10CM:N75.0" NCBITaxon:6269 "GC_ID:1" MONDO:0017301 "Orphanet:2847" MONDO:0014423 "UMLS:C4014833" +MONDO:0014423 "ICD10CM:D81.1" MONDO:0014423 "OMIM:615966" MONDO:0014423 "SCTID:716871006" -MONDO:0014423 "ICD10:D81.1" MONDO:0014423 "Orphanet:317425" MONDO:0003396 "SCTID:45676007" MONDO:0003396 "ICD9:523.8" @@ -100531,6 +98011,7 @@ MONDO:0003396 "DOID:5337" MONDO:0003396 "NCIT:C3948" MONDO:0002142 "ONCOTREE:MFH" MONDO:0002142 "GARD:0006963" +MONDO:0002142 "ICD10CM:C49.9" MONDO:0002142 "HGNC:16982" MONDO:0002142 "NCIT:C4247" MONDO:0002142 "ICD9:171.9" @@ -100539,14 +98020,13 @@ MONDO:0002142 "EFO:1001972" MONDO:0002142 "ICDO:8830/3" MONDO:0002142 "DOID:1907" MONDO:0002142 "MedDRA:10025552" -MONDO:0002142 "ICD10:C49.9" MONDO:0002142 "Orphanet:2023" MONDO:0002142 "SCTID:443439001" MONDO:0002142 "NCIT:C114541" +MONDO:0016500 "ICD10CM:G61.0" MONDO:0016500 "SCTID:766049000" MONDO:0016500 "Orphanet:231466" MONDO:0016500 "UMLS:CN201503" -MONDO:0016500 "ICD10:G61.0" NCBITaxon:34619 "GC_ID:1" MONDO:0020163 "Orphanet:98572" NCBITaxon:116926 "GC_ID:1" @@ -100556,7 +98036,6 @@ MONDO:0018874 "ICD9:205.0" MONDO:0018874 "ICD9:205.00" MONDO:0018874 "ICDO:9861/3" MONDO:0018874 "MESH:D015470" -MONDO:0018874 "ICD10:C92.00" MONDO:0018874 "OMIM:601626" MONDO:0018874 "ONCOTREE:AML" MONDO:0018874 "GARD:0012757" @@ -100566,7 +98045,6 @@ MONDO:0018874 "MedDRA:10000880" MONDO:0018874 "UMLS:C0023467" MONDO:0018874 "DOID:9119" MONDO:0018874 "SCTID:91861009" -MONDO:0018874 "ICD10:C92.0" MONDO:0018874 "EFO:0000222" MONDO:0018874 "KEGG:05221" MONDO:0014529 "EFO:0009030" @@ -100574,7 +98052,7 @@ MONDO:0014529 "UMLS:C4015495" MONDO:0014529 "Orphanet:444072" MONDO:0014529 "OMIM:616202" MONDO:0014529 "UMLS:CN221667" -MONDO:0014529 "ICD10:Q87.0" +MONDO:0014529 "ICD10CM:Q87.0" MONDO:0009751 "DOID:0070160" MONDO:0009751 "MESH:C564946" MONDO:0009751 "OMIM:256860" @@ -100582,21 +98060,19 @@ MONDO:0009751 "UMLS:C1850384" MONDO:0004780 "ICD9:410.60" MONDO:0004780 "DOID:9407" MONDO:0016999 "Orphanet:263714" +MONDO:0014306 "ICD10CM:M30.8" MONDO:0014306 "Orphanet:404553" MONDO:0014306 "GARD:0012383" MONDO:0014306 "OMIM:615688" -MONDO:0014306 "ICD10:M30.8" MONDO:0001906 "SCTID:14169000" MONDO:0001906 "DOID:14199" MONDO:0001906 "ICD9:379.34" MONDO:0001906 "UMLS:C0155373" -MONDO:0001906 "ICD10:H27.13" MONDO:0013590 "Orphanet:828" MONDO:0013590 "OMIM:614134" MONDO:0013590 "Orphanet:250984" MONDO:0017941 "NCIT:C128422" MONDO:0017941 "UMLS:C0008055" -MONDO:0017941 "ICD10:A92.0" MONDO:0017941 "MESH:D065632" MONDO:0017941 "SCTID:111864006" MONDO:0017941 "GARD:0006038" @@ -100612,10 +98088,9 @@ MONDO:0002782 "NCIT:C26941" MONDO:0002782 "DOID:3817" MONDO:0002782 "MESH:D003389" MONDO:0002782 "SCTID:73013002" -MONDO:0001412 "DOID:11988" -MONDO:0001412 "ICD10:H11.12" -MONDO:0001412 "ICD9:372.54" MONDO:0001412 "SCTID:13706005" +MONDO:0001412 "ICD9:372.54" +MONDO:0001412 "DOID:11988" MONDO:0032618 "OMIM:618235" MONDO:0014716 "UMLS:C4225259" MONDO:0014716 "OMIM:616638" @@ -100623,16 +98098,15 @@ MONDO:0014716 "EFO:0009050" MONDO:0014716 "Orphanet:457485" MONDO:0010495 "UMLS:C4225420" MONDO:0010495 "OMIM:300953" -MONDO:0009281 "MESH:C536833" -MONDO:0009281 "ICD10:E72.3" +MONDO:0009281 "UMLS:C0268595" MONDO:0009281 "SCTID:76175005" +MONDO:0009281 "ICD10CM:E72.3" MONDO:0009281 "NCIT:C99101" -MONDO:0009281 "Orphanet:25" +MONDO:0009281 "MESH:C536833" MONDO:0009281 "OMIM:231670" -MONDO:0009281 "UMLS:C0268595" MONDO:0009281 "GARD:0006522" +MONDO:0009281 "Orphanet:25" MONDO:0009281 "DOID:0111254" -MONDO:0020560 "ICD10:C49.9" MONDO:0020560 "ONCOTREE:ATRT" MONDO:0020560 "UMLS:CN207484" MONDO:0020560 "ICDO:9508/3" @@ -100641,17 +98115,18 @@ MONDO:0020560 "UMLS:C1266184" MONDO:0020560 "DOID:2129" MONDO:0020560 "Orphanet:99966" MONDO:0020560 "EFO:1002008" +MONDO:0020560 "ICD10CM:C49.9" MONDO:0020560 "NCIT:C6906" -MONDO:0017295 "ICD10:E74.8" MONDO:0017295 "Orphanet:284411" MONDO:0017295 "OMIM:307030" +MONDO:0017295 "ICD10CM:E74.8" HP:0000870 "UMLS:C0020514" HP:0000870 "MSH:D006966" HP:0000870 "SNOMEDCT_US:237662005" +MONDO:0004508 "ICD10CM:K04.5" MONDO:0004508 "EFO:1001391" MONDO:0004508 "UMLS:C0031030" MONDO:0004508 "DOID:823" -MONDO:0004508 "ICD10:K04.5" MONDO:0004508 "SCTID:39273001" MONDO:0004508 "MESH:D010485" NCBITaxon:1279 "PMID:10319469" @@ -100662,13 +98137,12 @@ NCBITaxon:1279 "PMID:10425778" NCBITaxon:1279 "PMID:12656157" NCBITaxon:1279 "PMID:9734063" NCBITaxon:1279 "PMID:17220435" +MONDO:0019113 "ICD10CM:G24.3" MONDO:0019113 "Orphanet:71518" MONDO:0019113 "SCTID:719521002" MONDO:0019113 "UMLS:CN205631" -MONDO:0019113 "ICD10:G24.3" MONDO:0007283 "DOID:0110237" MONDO:0007283 "UMLS:C4011454" -MONDO:0007283 "ICD10:Q12.0" MONDO:0007283 "OMIM:115900" MONDO:0007283 "Orphanet:91492" MONDO:0005667 "DOID:4140" @@ -100699,11 +98173,10 @@ MONDO:0012535 "OMIM:610680" MONDO:0012535 "UMLS:C1853187" MONDO:0012535 "GARD:0010055" MONDO:0012535 "MESH:C538328" +MONDO:0011957 "ICD10CM:H35.5" MONDO:0011957 "MESH:C562746" -MONDO:0011957 "ICD10:H35.5" MONDO:0011957 "OMIM:608051" MONDO:0011957 "Orphanet:319640" -MONDO:0012903 "ICD10:H90.3" MONDO:0012903 "DOID:0110502" MONDO:0012903 "OMIM:612433" MONDO:0011077 "OMIM:601420" @@ -100726,10 +98199,10 @@ HP:0010522 "SNOMEDCT_US:59770006" HP:0010522 "SNOMEDCT_US:9236007" HP:0010522 "SNOMEDCT_US:52824009" HP:0010522 "UMLS:C0476254" +MONDO:0011264 "ICD10CM:G24.1" MONDO:0011264 "MESH:C538003" MONDO:0011264 "Orphanet:98806" MONDO:0011264 "UMLS:C1414216" -MONDO:0011264 "ICD10:G24.1" MONDO:0011264 "SCTID:702448007" MONDO:0011264 "GARD:0009630" MONDO:0011264 "DOID:0090039" @@ -100747,8 +98220,8 @@ MONDO:0006154 "NCIT:C5498" MONDO:0005774 "GARD:0009536" MONDO:0005774 "DOID:13444" MONDO:0005774 "EFO:0007286" +MONDO:0005774 "ICD10CM:A24.0" MONDO:0005774 "SCTID:4639008" -MONDO:0005774 "ICD10:A24.0" MONDO:0005774 "MESH:D005896" MONDO:0005774 "ICD9:024" MONDO:0005774 "NCIT:C34638" @@ -100756,19 +98229,19 @@ MONDO:0005774 "UMLS:C0017589" MONDO:0013267 "OMIM:613444" MONDO:0013267 "UMLS:C3150701" MONDO:0013267 "UMLS:C4518824" +MONDO:0013267 "ICD10CM:Q93.5" MONDO:0013267 "SCTID:733521003" MONDO:0013267 "DOID:0060398" -MONDO:0013267 "ICD10:Q93.5" MONDO:0013267 "Orphanet:261222" MONDO:0015122 "Orphanet:101952" MONDO:0015122 "UMLS:CN226600" MONDO:0009530 "UMLS:C0023795" +MONDO:0009530 "ICD10CM:E78.8" MONDO:0009530 "MESH:D008065" MONDO:0009530 "GARD:0003268" MONDO:0009530 "ICD9:272.8" MONDO:0009530 "NCIT:C84829" MONDO:0009530 "Orphanet:530" -MONDO:0009530 "ICD10:E78.8" MONDO:0009530 "OMIM:247100" MONDO:0009530 "SCTID:38692000" MONDO:0009530 "DOID:14498" @@ -100797,23 +98270,22 @@ MONDO:0020013 "Orphanet:98026" MONDO:0004372 "UMLS:C1333048" MONDO:0004372 "NCIT:C35603" MONDO:0004372 "DOID:7825" -MONDO:0054804 "OMIM:617983" -MONDO:0054804 "UMLS:CN244930" MONDO:0011485 "GARD:0009734" MONDO:0011485 "DOID:0060714" -MONDO:0011485 "ICD10:Q80.2" MONDO:0011485 "MESH:C537265" MONDO:0011485 "OMIM:604777" MONDO:0011485 "Orphanet:313" MONDO:0012127 "GARD:0012534" MONDO:0012127 "UMLS:C1837342" MONDO:0012127 "Orphanet:140922" +MONDO:0012127 "ICD10CM:G71.0" MONDO:0012127 "DOID:0110283" -MONDO:0012127 "ICD10:G71.0" MONDO:0012127 "MESH:C563854" MONDO:0012127 "OMIM:608807" -MONDO:0018289 "ICD10:E77.8" +MONDO:0018289 "ICD10CM:E77.8" MONDO:0018289 "Orphanet:371176" +MONDO:0054804 "OMIM:617983" +MONDO:0054804 "UMLS:CN244930" MONDO:0013685 "Orphanet:1333" MONDO:0013685 "OMIM:614320" MONDO:0017074 "Orphanet:268766" @@ -100821,8 +98293,8 @@ MONDO:0015762 "Orphanet:172" MONDO:0015762 "DOID:0070221" MONDO:0015762 "OMIM:615878" MONDO:0015762 "OMIM:601847" +MONDO:0015762 "ICD10CM:K76.8" MONDO:0015762 "OMIM:211600" -MONDO:0015762 "ICD10:K76.8" MONDO:0015762 "OMIMPS:211600" MONDO:0015762 "OMIM:602347" MONDO:0015762 "UMLS:C0268312" @@ -100862,13 +98334,12 @@ MONDO:0100079 "OMIM:607208" MONDO:0009353 "GARD:0002734" MONDO:0009353 "SCTID:41797007" MONDO:0009353 "MESH:C537357" -MONDO:0009353 "ICD10:E72.1" +MONDO:0009353 "ICD10CM:E72.1" MONDO:0009353 "OMIM:236250" MONDO:0009353 "Orphanet:395" MONDO:0021360 "SCTID:127020005" MONDO:0021360 "NCIT:C3313" MONDO:0021360 "ICD9:239.7" -MONDO:0003060 "ICD10:C24.9" MONDO:0003060 "DOID:4607" MONDO:0003060 "ICD9:156.9" MONDO:0003060 "GARD:0005924" @@ -100885,7 +98356,7 @@ NCBITaxon:11146 "GC_ID:1" MONDO:0010356 "SCTID:723440000" MONDO:0010356 "OMIM:300539" MONDO:0010356 "UMLS:C1845202" -MONDO:0010356 "ICD10:E22.2" +MONDO:0010356 "ICD10CM:E22.2" MONDO:0010356 "MESH:C564491" MONDO:0010356 "Orphanet:93606" HP:0000011 "UMLS:C0005697" @@ -100898,9 +98369,9 @@ MONDO:0014172 "OMIM:615413" MONDO:0014172 "Orphanet:399808" MONDO:0014172 "UMLS:C3809427" MONDO:0020421 "Orphanet:99085" -MONDO:0020421 "ICD10:Q24.5" +MONDO:0020421 "ICD10CM:Q24.5" MONDO:0019894 "Orphanet:96136" -MONDO:0019894 "ICD10:Q93.5" +MONDO:0019894 "ICD10CM:Q93.5" MONDO:0008341 "UMLS:C1867437" MONDO:0008341 "Orphanet:2999" MONDO:0008341 "GARD:0004577" @@ -100911,9 +98382,9 @@ MONDO:0003388 "NCIT:C27414" MONDO:0003388 "UMLS:C1332246" MONDO:0018697 "UMLS:CN237766" MONDO:0018697 "Orphanet:456298" -MONDO:0018697 "ICD10:Q93.5" +MONDO:0018697 "ICD10CM:Q93.5" MONDO:0016116 "Orphanet:206710" -MONDO:0016116 "ICD10:G12.2" +MONDO:0016116 "ICD10CM:G12.2" MONDO:0007144 "MESH:C566271" MONDO:0007144 "OMIM:107550" MONDO:0007144 "UMLS:C1862681" @@ -100921,10 +98392,10 @@ MONDO:0005832 "DOID:9317" MONDO:0005832 "NCIT:C34790" MONDO:0005832 "SCTID:1415005" MONDO:0005832 "ICD9:457.2" -MONDO:0005832 "ICD10:I89.1" MONDO:0005832 "UMLS:C0024225" MONDO:0005832 "MESH:D008205" MONDO:0005832 "EFO:0007351" +MONDO:0005832 "ICD10CM:I89.1" MONDO:0006764 "SCTID:24321005" MONDO:0006764 "MESH:D016921" MONDO:0006764 "DOID:11608" @@ -100945,12 +98416,12 @@ MONDO:0022904 "SCTID:10934005" MONDO:0022904 "UMLS:C0272263" MONDO:0022904 "GARD:0009908" MONDO:0012700 "UMLS:C1969038" -MONDO:0012700 "ICD10:N25.8" MONDO:0012700 "OMIM:611590" MONDO:0012700 "Orphanet:18" +MONDO:0012700 "ICD10CM:N25.8" MONDO:0012700 "Orphanet:93610" MONDO:0015357 "UMLS:CN242104" -MONDO:0015357 "ICD10:E20.8" +MONDO:0015357 "ICD10CM:E20.8" MONDO:0015357 "Orphanet:140286" MONDO:0005362 "NCIT:C3133" MONDO:0005362 "NCIT:C34801" @@ -100960,7 +98431,7 @@ MONDO:0005362 "DOID:1875" MONDO:0005362 "MESH:D007172" MONDO:0005362 "EFO:0004234" MONDO:0017557 "Orphanet:295223" -MONDO:0017557 "ICD10:Q74.0" +MONDO:0017557 "ICD10CM:Q74.0" MONDO:0030538 "OMIM:619724" MONDO:0009953 "MESH:C535755" MONDO:0009953 "OMIM:266265" @@ -100971,7 +98442,7 @@ MONDO:0009953 "SCTID:234583001" MONDO:0009953 "DOID:0070255" MONDO:0009953 "GARD:0004634" MONDO:0009953 "NCIT:C4690" -MONDO:0009953 "ICD10:D84.8" +MONDO:0009953 "ICD10CM:D84.8" MONDO:0009953 "Orphanet:99843" MONDO:0036915 "EFO:1000115" MONDO:0036915 "NCIT:C40039" @@ -100993,26 +98464,24 @@ MONDO:0016752 "UMLS:CN202000" MONDO:0003622 "UMLS:C2033037" MONDO:0003622 "DOID:5741" MONDO:0003622 "NCIT:C27454" -MONDO:0002352 "ICD10:C32" MONDO:0002352 "DOID:2596" MONDO:0002352 "EFO:1000354" MONDO:0002352 "MESH:D007822" MONDO:0002352 "UMLS:C0007107" MONDO:0002352 "ICD9:161" MONDO:0002352 "ICD9:161.8" -MONDO:0002352 "ICD10:C32.9" MONDO:0002352 "ICD9:161.9" MONDO:0002352 "NCIT:C7484" MONDO:0002352 "SCTID:363429002" MONDO:0019315 "NCIT:C3218" MONDO:0019315 "GARD:0012686" MONDO:0019315 "UMLS:C0024901" -MONDO:0019315 "ICD10:Q82.2" MONDO:0019315 "ICDO:9740/1" MONDO:0019315 "Orphanet:79456" MONDO:0019315 "DOID:3665" MONDO:0019315 "MedDRA:10012812" MONDO:0019315 "MESH:D034701" +MONDO:0019315 "ICD10CM:Q82.2" MONDO:0031001 "OMIM:619248" MONDO:0006094 "DOID:0050608" MONDO:0006094 "UMLS:C0877849" @@ -101046,8 +98515,8 @@ MONDO:0001593 "SCTID:5964004" MONDO:0001593 "UMLS:C0034882" MONDO:0008120 "GARD:0004955" MONDO:0008120 "Orphanet:94147" -MONDO:0008120 "ICD10:G11.8" MONDO:0008120 "OMIM:164500" +MONDO:0008120 "ICD10CM:G11.8" MONDO:0008120 "UMLS:C0752125" MONDO:0008120 "SCTID:715726000" MONDO:0008120 "DOID:0050958" @@ -101060,13 +98529,12 @@ MONDO:0002235 "DOID:2173" MONDO:0002235 "MESH:D005142" MONDO:0002235 "EFO:1000934" MONDO:0020610 "OMIM:110500" +NCBITaxon:747 "GC_ID:11" +NCBITaxon:747 "PMID:15184562" MONDO:0001855 "ICD9:364.42" MONDO:0001855 "SCTID:51995000" -MONDO:0001855 "ICD10:H21.1" MONDO:0001855 "UMLS:C0154916" MONDO:0001855 "DOID:14000" -NCBITaxon:747 "GC_ID:11" -NCBITaxon:747 "PMID:15184562" MONDO:0017106 "Orphanet:269200" MONDO:0017106 "HP:0006951" MONDO:0010300 "MESH:C564533" @@ -101082,15 +98550,15 @@ MONDO:0005611 "ONCOTREE:BLCA" MONDO:0044873 "NCIT:C68744" MONDO:0019486 "UMLS:CN206266" MONDO:0019486 "UMLS:C0917800" -MONDO:0019486 "ICD10:G40.3" +MONDO:0019486 "ICD10CM:G40.3" MONDO:0019486 "Orphanet:86909" MONDO:0008576 "OMIM:189000" MONDO:0016368 "Orphanet:221008" MONDO:0016368 "OMIM:618625" -MONDO:0016368 "ICD10:Q82.8" MONDO:0016368 "UMLS:CN201233" -MONDO:0015281 "ICD10:I45.5" +MONDO:0016368 "ICD10CM:Q82.8" MONDO:0015281 "UMLS:CN199216" +MONDO:0015281 "ICD10CM:I45.5" MONDO:0015281 "ICD9:426.6" MONDO:0015281 "Orphanet:1344" MONDO:0015281 "OMIM:108770" @@ -101105,8 +98573,8 @@ MONDO:0000453 "UMLS:C2348199" MONDO:0000453 "SCTID:698272007" MONDO:0000453 "DOID:0050793" MONDO:0000453 "OMIM:609621" -MONDO:0000453 "ICD10:I49.8" MONDO:0000453 "OMIM:609620" +MONDO:0000453 "ICD10CM:I49.8" MONDO:0000453 "Orphanet:51083" MONDO:0006356 "UMLS:C1335355" MONDO:0006356 "EFO:1000459" @@ -101118,16 +98586,16 @@ MONDO:0004195 "DOID:7350" MONDO:0004195 "UMLS:C1331541" MONDO:0004195 "NCIT:C27802" MONDO:0018547 "UMLS:CN227537" +MONDO:0018547 "ICD10CM:T43.0" MONDO:0018547 "Orphanet:43117" -MONDO:0018547 "ICD10:T43.0" -MONDO:0009732 "NCIT:C122795" -MONDO:0009732 "ICD10:N04.8" +MONDO:0009732 "UMLS:C0403399" MONDO:0009732 "MedDRA:10060740" -MONDO:0009732 "Orphanet:839" MONDO:0009732 "OMIM:256300" -MONDO:0009732 "GARD:0001500" MONDO:0009732 "SCTID:197601003" -MONDO:0009732 "UMLS:C0403399" +MONDO:0009732 "GARD:0001500" +MONDO:0009732 "Orphanet:839" +MONDO:0009732 "ICD10CM:N04.8" +MONDO:0009732 "NCIT:C122795" MONDO:0010944 "OMIM:600851" HP:0012369 "UMLS:C4022926" MONDO:0017746 "OMIM:613454" @@ -101137,19 +98605,18 @@ MONDO:0017746 "OMIM:312750" MONDO:0017746 "OMIM:300672" MONDO:0017746 "GARD:0004694" MONDO:0017746 "SCTID:718393002" -MONDO:0017746 "ICD10:F84.2" +MONDO:0017746 "ICD10CM:F84.2" MONDO:0010521 "GARD:0009943" MONDO:0010521 "OMIM:301200" MONDO:0010521 "Orphanet:100033" MONDO:0010521 "DOID:0110058" -MONDO:0010521 "ICD10:K00.5" -MONDO:0016683 "ICD10:C71.0" MONDO:0016683 "MedDRA:10066254" MONDO:0016683 "GARD:0006514" MONDO:0016683 "ICDO:9381/3" MONDO:0016683 "NCIT:C4318" MONDO:0016683 "DOID:6128" MONDO:0016683 "Orphanet:251582" +MONDO:0016683 "ICD10CM:C71.0" MONDO:0016683 "UMLS:C0334576" MONDO:0016683 "MESH:D018302" MONDO:0012119 "UMLS:C1837434" @@ -101161,7 +98628,7 @@ MONDO:0018883 "NCIT:C84594" MONDO:0018883 "OMIM:269700" MONDO:0018883 "OMIM:608594" MONDO:0018883 "OMIM:612526" -MONDO:0018883 "ICD10:E88.1" +MONDO:0018883 "ICD10CM:E88.1" MONDO:0025459 "UMLS:C0035637" MONDO:0025459 "MESH:D012301" MONDO:0012590 "GARD:0010628" @@ -101173,7 +98640,7 @@ MONDO:0054835 "OMIM:613135" MONDO:0007797 "OMIM:146255" MONDO:0007797 "NCIT:C130983" MONDO:0007797 "DOID:0060878" -MONDO:0007797 "ICD10:Q87.8" +MONDO:0007797 "ICD10CM:Q87.8" MONDO:0007797 "UMLS:C1840333" MONDO:0007797 "Orphanet:2237" MONDO:0007797 "MESH:C537907" @@ -101187,14 +98654,12 @@ MONDO:0009086 "GARD:0002568" MONDO:0009086 "OMIM:221400" MONDO:0009086 "SCTID:733071009" MONDO:0001915 "ICD9:376.81" -MONDO:0001915 "ICD10:H05.81" MONDO:0001915 "DOID:14233" MONDO:0001915 "UMLS:C0155285" MONDO:0001915 "SCTID:31021007" MONDO:0001915 "HP:0001144" NCBITaxon:4069 "GC_ID:1" MONDO:0010827 "DOID:0110381" -MONDO:0010827 "ICD10:H35.5" MONDO:0010827 "OMIM:600132" MONDO:0010827 "GARD:0010385" MONDO:0010827 "UMLS:C1838603" @@ -101214,9 +98679,9 @@ MONDO:0002658 "DOID:3478" MONDO:0002658 "SCTID:188264002" MONDO:0004585 "ICD9:657" MONDO:0004585 "DOID:8488" -MONDO:0004585 "ICD10:O40" MONDO:0004585 "ICD9:657.0" MONDO:0004585 "SCTID:86203003" +MONDO:0004585 "ICD10CM:O30-O48" MONDO:0004585 "ICD9:657.00" MONDO:0004585 "NCIT:C92848" MONDO:0004585 "MESH:D006831" @@ -101227,14 +98692,14 @@ MONDO:0023212 "MESH:C535646" MONDO:0022656 "GARD:0001110" MONDO:0009379 "MedDRA:10039234" MONDO:0009379 "Orphanet:3111" +MONDO:0009379 "ICD10CM:E80.6" MONDO:0009379 "GARD:0000218" MONDO:0009379 "OMIM:237450" MONDO:0009379 "UMLS:C0220991" -MONDO:0009379 "ICD10:E80.6" MONDO:0009379 "SCTID:32891000" +MONDO:0015975 "ICD10CM:D80.5" MONDO:0015975 "UMLS:CN200572" MONDO:0015975 "OMIM:606843" -MONDO:0015975 "ICD10:D80.5" MONDO:0015975 "OMIM:308230" MONDO:0015975 "Orphanet:183663" MONDO:0020194 "Orphanet:98604" @@ -101261,9 +98726,9 @@ MONDO:0020580 "UMLS:C4054897" MONDO:0020580 "NCIT:C121618" MONDO:0010691 "ICD9:743.8" MONDO:0010691 "NCIT:C118634" +MONDO:0010691 "ICD10CM:H35.5" MONDO:0010691 "GARD:0007224" MONDO:0010691 "MedDRA:10069760" -MONDO:0010691 "ICD10:H35.5" MONDO:0010691 "DOID:0060844" MONDO:0010691 "OMIM:310600" MONDO:0010691 "SCTID:15228007" @@ -101271,7 +98736,7 @@ MONDO:0010691 "Orphanet:649" MONDO:0010691 "MESH:C537849" MONDO:0006601 "UMLS:C0032026" MONDO:0006601 "NCIT:C26855" -MONDO:0006601 "ICD10:L42" +MONDO:0006601 "ICD10CM:L42" MONDO:0006601 "MESH:D017515" MONDO:0006601 "EFO:1000756" MONDO:0006601 "DOID:8892" @@ -101295,8 +98760,8 @@ MONDO:0012011 "UMLS:C1842247" MONDO:0012011 "MESH:C564258" MONDO:0001443 "MESH:D063371" MONDO:0001443 "SCTID:23606001" -MONDO:0001443 "ICD10:H74.0" MONDO:0001443 "ICD9:385.09" +MONDO:0001443 "ICD10CM:H74.0" MONDO:0001443 "DOID:1214" MONDO:0001443 "ICD9:385.00" MONDO:0007346 "MESH:C536432" @@ -101306,13 +98771,12 @@ MONDO:0007346 "Orphanet:3233" MONDO:0007346 "GARD:0009418" MONDO:0007346 "SCTID:715528001" MONDO:0014385 "DOID:0110063" -MONDO:0014385 "ICD10:K00.5" MONDO:0014385 "UMLS:C4014578" MONDO:0014385 "Orphanet:100033" MONDO:0014385 "OMIM:615887" MONDO:0020612 "OMIM:111000" MONDO:0028743 "Orphanet:498454" -MONDO:0018736 "ICD10:D18.1" +MONDO:0018736 "ICD10CM:D18.1" MONDO:0018736 "Orphanet:464329" MONDO:0016462 "OMIM:615214" MONDO:0016462 "OMIM:613502" @@ -101327,9 +98791,9 @@ MONDO:0016462 "OMIM:612692" MONDO:0016462 "Orphanet:229717" MONDO:0016462 "OMIM:616941" MONDO:0019979 "Orphanet:97361" -MONDO:0019979 "ICD10:Q60.3" +MONDO:0019979 "ICD10CM:Q60.3" +MONDO:0008426 "ICD10CM:Q87.8" MONDO:0008426 "SCTID:719069008" -MONDO:0008426 "ICD10:Q87.8" MONDO:0008426 "Orphanet:2462" MONDO:0008426 "NCIT:C124840" MONDO:0008426 "UMLS:C1321551" @@ -101338,7 +98802,6 @@ MONDO:0008426 "GARD:0004861" MONDO:0009984 "DOID:0110421" MONDO:0009984 "MESH:C564840" MONDO:0009984 "OMIM:268025" -MONDO:0009984 "ICD10:H35.5" MONDO:0009984 "UMLS:C1849400" MONDO:0012089 "UMLS:C1504431" MONDO:0012089 "GARD:0009886" @@ -101355,23 +98818,23 @@ MONDO:0014222 "OMIM:615513" MONDO:0013452 "Orphanet:404463" MONDO:0013452 "UMLS:C3151201" MONDO:0013452 "GARD:0012811" +MONDO:0013452 "ICD10CM:I73.8" MONDO:0013452 "OMIM:613834" -MONDO:0013452 "ICD10:I73.8" HP:0000107 "UMLS:C0022679" HP:0000107 "MSH:D052177" HP:0000107 "UMLS:C3887499" MONDO:0014268 "OMIM:615593" -MONDO:0014268 "ICD10:D81.8" +MONDO:0014268 "ICD10CM:D81.8" MONDO:0014268 "Orphanet:431149" MONDO:0014268 "UMLS:C3810053" MONDO:0014268 "SCTID:766879006" +MONDO:0015060 "ICD10CM:Q92.1" MONDO:0015060 "SCTID:764627005" -MONDO:0015060 "ICD10:Q92.1" MONDO:0015060 "Orphanet:100071" MONDO:0015060 "UMLS:CN073992" MONDO:0015060 "GARD:0005342" MONDO:0019347 "SCTID:239065004" -MONDO:0019347 "ICD10:Q80.8" +MONDO:0019347 "ICD10CM:Q80.8" MONDO:0019347 "Orphanet:817" MONDO:0019347 "Orphanet:263543" MONDO:0019347 "OMIMPS:270300" @@ -101385,7 +98848,6 @@ MONDO:0015450 "NCIT:C84651" MONDO:0015450 "SCTID:55510008" MONDO:0015450 "GARD:0006194" MONDO:0015450 "Orphanet:1463" -MONDO:0015450 "ICD10:Q24.2" MONDO:0015450 "ICD9:746.82" MONDO:0030263 "OMIM:619310" MONDO:0020005 "UMLS:CN206938" @@ -101393,7 +98855,6 @@ MONDO:0020005 "Orphanet:97978" MONDO:0009030 "UMLS:C1857530" MONDO:0009030 "OMIM:218200" MONDO:0009030 "MESH:C565672" -MONDO:0014854 "ICD10:H90.3" MONDO:0014854 "OMIM:616969" MONDO:0014854 "DOID:0110587" MONDO:0014854 "UMLS:C4283893" @@ -101401,22 +98862,22 @@ MONDO:0004017 "UMLS:C1335416" MONDO:0004017 "DOID:6858" MONDO:0004017 "NCIT:C6755" NCBITaxon:29105 "GC_ID:1" +MONDO:0045001 "SCTID:415991003" +MONDO:0045001 "UMLS:C1562298" MONDO:0006217 "NCIT:C7356" MONDO:0006217 "ONCOTREE:GBASC" MONDO:0006217 "UMLS:C1333741" MONDO:0006217 "DOID:5627" MONDO:0006217 "EFO:1000264" MONDO:0012440 "OMIM:610208" -MONDO:0045001 "SCTID:415991003" -MONDO:0045001 "UMLS:C1562298" MONDO:0008647 "OMIM:192600" MONDO:0008647 "DOID:0110307" -MONDO:0009158 "ICD10:Q79.6" MONDO:0009158 "Orphanet:75501" MONDO:0009158 "MESH:C565600" MONDO:0009158 "SCTID:83586000" MONDO:0009158 "GARD:0008508" MONDO:0009158 "OMIM:225310" +MONDO:0009158 "ICD10CM:Q79.6" MONDO:0024616 "SCTID:14852000" MONDO:0024616 "UMLS:C0027134" MONDO:0012507 "UMLS:C1864849" @@ -101431,7 +98892,7 @@ MONDO:0017607 "UMLS:C1838568" MONDO:0017607 "OMIM:600145" MONDO:0017607 "NCIT:C124505" MONDO:0017607 "GARD:0006007" -MONDO:0017607 "ICD10:Q76.0" +MONDO:0017607 "ICD10CM:Q76.0" MONDO:0017607 "MedDRA:10059387" MONDO:0016891 "Orphanet:261929" MONDO:0012896 "DOID:0111289" @@ -101442,9 +98903,9 @@ MONDO:0013842 "DOID:0090140" MONDO:0013842 "UMLS:C3553382" MONDO:0013842 "Orphanet:168588" MONDO:0013842 "NCIT:C131084" +MONDO:0015567 "ICD10CM:Q12.0" MONDO:0015567 "Orphanet:162" MONDO:0015567 "UMLS:CN199931" -MONDO:0015567 "ICD10:Q12.0" MONDO:0015567 "SCTID:718851007" MONDO:0015567 "GARD:0001160" MONDO:0020228 "Orphanet:98644" @@ -101458,10 +98919,8 @@ MONDO:0006909 "MESH:D004393" MONDO:0006909 "MedDRA:10035083" MONDO:0004657 "ICD9:363.10" MONDO:0004657 "UMLS:C0154879" -MONDO:0004657 "ICD10:H30.10" MONDO:0004657 "ICD9:363.1" MONDO:0004657 "SCTID:78769001" -MONDO:0004657 "ICD10:H30.1" MONDO:0004657 "DOID:8787" MONDO:0008834 "DOID:0111579" MONDO:0008834 "UMLS:C1859648" @@ -101471,8 +98930,8 @@ HP:0001927 "SNOMEDCT_US:250249008" HP:0001927 "UMLS:C0687751" MONDO:0008146 "OMIM:166200" MONDO:0008146 "GARD:0008694" +MONDO:0008146 "ICD10CM:Q78.0" MONDO:0008146 "SCTID:385482004" -MONDO:0008146 "ICD10:Q78.0" MONDO:0008146 "NCIT:C99003" MONDO:0008146 "DOID:0110334" MONDO:0008146 "UMLS:CN536249" @@ -101483,14 +98942,14 @@ MONDO:0017265 "OMIM:617320" MONDO:0017265 "OMIMPS:242300" MONDO:0017265 "Orphanet:281097" MONDO:0017265 "DOID:0060655" -MONDO:0019192 "ICD10:E88.1" MONDO:0019192 "UMLS:CN205772" MONDO:0019192 "GARD:0012599" +MONDO:0019192 "ICD10CM:E88.1" MONDO:0019192 "UMLS:CN536246" MONDO:0019192 "Orphanet:79085" -MONDO:0018211 "ICD10:H51.8" MONDO:0018211 "Orphanet:363746" MONDO:0018211 "SCTID:765212008" +MONDO:0018211 "ICD10CM:H51.8" MONDO:0018211 "UMLS:C0270706" MONDO:0002437 "DOID:2833" MONDO:0002437 "NCIT:C27310" @@ -101499,14 +98958,13 @@ MONDO:0013948 "Orphanet:912" MONDO:0013948 "UMLS:C3553999" MONDO:0013948 "OMIM:614882" MONDO:0013948 "DOID:0080484" -MONDO:0015825 "ICD10:E66.8" +MONDO:0015825 "ICD10CM:E66.8" MONDO:0015825 "Orphanet:179490" MONDO:0001046 "DOID:10488" MONDO:0001046 "Orphanet:557" MONDO:0001046 "OMIM:207500" MONDO:0001046 "GARD:0006769" MONDO:0001046 "OMIM:301800" -MONDO:0001046 "ICD10:Q42.3" MONDO:0001046 "MESH:D001006" MONDO:0001046 "SCTID:204731006" MONDO:0001046 "NCIT:C84784" @@ -101572,22 +99030,18 @@ MONDO:0004878 "SCTID:188154003" MONDO:0004878 "ICD9:174.4" MONDO:0004878 "DOID:9773" MONDO:0004878 "UMLS:C0153552" -MONDO:0004878 "ICD10:C50.41" MONDO:0011767 "UMLS:C1846839" MONDO:0011767 "MESH:C564629" -MONDO:0011767 "ICD10:H90.3" MONDO:0011767 "OMIM:607084" MONDO:0011767 "DOID:0110490" MONDO:0005824 "EFO:0007343" MONDO:0005824 "MESH:D007877" MONDO:0005824 "ICD9:482.84" MONDO:0005824 "DOID:10457" -MONDO:0005824 "ICD10:A48.1" MONDO:0005824 "NCIT:C128339" MONDO:0005824 "SCTID:195889001" MONDO:0000889 "SCTID:192643004" MONDO:0000889 "ICD9:320.0" -MONDO:0000889 "ICD10:G00.0" MONDO:0000889 "EFO:1000955" MONDO:0000889 "MESH:D008583" MONDO:0000889 "MedDRA:10018953" @@ -101599,8 +99053,8 @@ MONDO:0000666 "DOID:0060136" MONDO:0014457 "UMLS:C4014958" MONDO:0014457 "OMIM:616025" MONDO:0014457 "Orphanet:247262" -MONDO:0016312 "ICD10:T45.1" MONDO:0016312 "MESH:C531667" +MONDO:0016312 "ICD10CM:T45.1" MONDO:0016312 "Orphanet:217064" MONDO:0016312 "UMLS:CN201128" MONDO:0003091 "SCTID:254713002" @@ -101616,11 +99070,11 @@ MONDO:0011954 "Orphanet:618" MONDO:0011954 "OMIM:608035" MONDO:0007511 "GARD:0002055" MONDO:0007511 "MESH:C565068" -MONDO:0007511 "ICD10:Q82.4" MONDO:0007511 "UMLS:C1851858" MONDO:0007511 "SCTID:734018003" MONDO:0007511 "OMIM:129510" MONDO:0007511 "Orphanet:1818" +MONDO:0007511 "ICD10CM:Q82.4" CL:0000679 "WBbt:0006829" MONDO:0006406 "DOID:4015" MONDO:0006406 "MESH:D002277" @@ -101637,9 +99091,7 @@ MONDO:0005690 "EFO:0007192" MONDO:0001718 "NCIT:C119046" MONDO:0001718 "ICD9:379.00" MONDO:0001718 "MESH:D015423" -MONDO:0001718 "ICD10:H15.00" MONDO:0001718 "GARD:0012911" -MONDO:0001718 "ICD10:H15.0" MONDO:0001718 "UMLS:C0036416" MONDO:0001718 "HP:0100532" MONDO:0001718 "SCTID:78370002" @@ -101651,17 +99103,17 @@ MONDO:0008836 "UMLS:C1859646" NCBITaxon:11051 "GC_ID:1" MONDO:0012675 "OMIM:611489" MONDO:0012675 "DOID:0090030" +MONDO:0012675 "ICD10CM:E27.8" MONDO:0012675 "GARD:0013101" -MONDO:0012675 "ICD10:E27.8" MONDO:0012675 "UMLS:C1852529" MONDO:0012675 "Orphanet:199247" NCBITaxon:1206794 "GC_ID:1" -MONDO:0014528 "ICD10:K59.8" MONDO:0014528 "SCTID:720507006" MONDO:0014528 "GARD:0012281" MONDO:0014528 "Orphanet:435988" MONDO:0014528 "DOID:0060339" MONDO:0014528 "OMIM:616201" +MONDO:0014528 "ICD10CM:K59.8" MONDO:0014528 "UMLS:C4015474" PO:0030109 "PO_GIT:652" NCBITaxon:53258 "GC_ID:1" @@ -101669,7 +99121,7 @@ MONDO:0000161 "UMLS:C1621895" MONDO:0016557 "GARD:0009759" MONDO:0016557 "Orphanet:2387" MONDO:0016557 "SCTID:763792009" -MONDO:0016557 "ICD10:Q84.4" +MONDO:0016557 "ICD10CM:Q84.4" MONDO:0016557 "MESH:C535889" MONDO:0016557 "OMIM:151600" HP:0004905 "UMLS:C0042842" @@ -101687,17 +99139,16 @@ MONDO:0019933 "Orphanet:963" MONDO:0019933 "MESH:D000172" MONDO:0019933 "OMIM:300943" MONDO:0019933 "NCIT:C84533" -MONDO:0019933 "ICD10:E22.0" MONDO:0009008 "MESH:C535849" MONDO:0009008 "GARD:0004166" MONDO:0009008 "GARD:0002612" MONDO:0009008 "DOID:0111591" MONDO:0009008 "Orphanet:1338" +MONDO:0009008 "ICD10CM:Q87.8" MONDO:0009008 "OMIM:217085" -MONDO:0009008 "ICD10:Q87.8" MONDO:0009008 "UMLS:C2931046" MONDO:0030937 "OMIM:619167" -MONDO:0012043 "ICD10:H18.5" +MONDO:0012043 "ICD10CM:H18.5" MONDO:0012043 "ICD9:371.52" MONDO:0012043 "OMIM:608470" MONDO:0012043 "UMLS:C0339278" @@ -101712,41 +99163,41 @@ MONDO:0011273 "UMLS:C1864445" MONDO:0011273 "UMLS:C2930890" MONDO:0011273 "SCTID:711159002" MONDO:0011273 "MESH:C535391" +MONDO:0011273 "ICD10CM:D76.3" MONDO:0011273 "GARD:0010239" MONDO:0011273 "Orphanet:168569" -MONDO:0011273 "ICD10:D76.3" MONDO:0011273 "OMIM:602782" MONDO:0008292 "SCTID:765096001" MONDO:0008292 "GARD:0004439" MONDO:0008292 "OMIM:175860" -MONDO:0008292 "ICD10:Q82.8" MONDO:0008292 "Orphanet:79502" MONDO:0008292 "UMLS:C1867982" MONDO:0008292 "DOID:0080213" +MONDO:0008292 "ICD10CM:Q82.8" +MONDO:0010105 "MESH:C537401" +MONDO:0010105 "UMLS:C1848902" +MONDO:0010105 "OMIM:273120" MONDO:0020782 "NCIT:C34474" MONDO:0020782 "ICD9:523.10" MONDO:0020782 "UMLS:C0008684" MONDO:0020782 "SCTID:72621003" MONDO:0020782 "ICD9:523.1" -MONDO:0010105 "MESH:C537401" -MONDO:0010105 "UMLS:C1848902" -MONDO:0010105 "OMIM:273120" MONDO:0011663 "GARD:0004485" -MONDO:0011663 "MESH:C536416" MONDO:0011663 "Orphanet:247604" +MONDO:0011663 "MESH:C536416" MONDO:0011663 "SCTID:717964007" MONDO:0011663 "OMIM:606353" +MONDO:0011663 "ICD10CM:G12.2" MONDO:0011663 "UMLS:C1853396" -MONDO:0011663 "ICD10:G12.2" MONDO:0007095 "Orphanet:1028" MONDO:0007095 "UMLS:C1863006" -MONDO:0007095 "ICD10:Q82.4" +MONDO:0007095 "ICD10CM:Q82.4" MONDO:0007095 "MESH:C538245" MONDO:0007095 "GARD:0000647" MONDO:0007095 "OMIM:104570" MONDO:0007095 "SCTID:715404000" MONDO:0014715 "OMIM:616669" -MONDO:0014715 "ICD10:D84.8" +MONDO:0014715 "ICD10CM:D84.8" MONDO:0014715 "OMIM:616636" MONDO:0014715 "UMLS:C4225260" MONDO:0014715 "Orphanet:431166" @@ -101754,21 +99205,21 @@ NCBITaxon:10114 "GC_ID:1" MONDO:0017609 "OMIM:267430" MONDO:0017609 "GARD:0000379" MONDO:0017609 "Orphanet:3033" -MONDO:0017609 "ICD10:Q63.8" +MONDO:0017609 "ICD10CM:Q63.8" MONDO:0017609 "SCTID:702397002" MONDO:0017998 "Orphanet:329303" -MONDO:0017998 "ICD10:G23.0" +MONDO:0017998 "ICD10CM:G23.0" MONDO:0017998 "GARD:0012567" MONDO:0004507 "NCIT:C36089" MONDO:0004507 "DOID:8227" MONDO:0004507 "UMLS:C1332346" +MONDO:0019816 "ICD10CM:Q22.8" MONDO:0019816 "Orphanet:95463" -MONDO:0019816 "ICD10:Q22.8" +MONDO:0010261 "ICD10CM:Q87.8" MONDO:0010261 "SCTID:699300009" MONDO:0010261 "GARD:0004628" MONDO:0010261 "OMIM:300166" MONDO:0010261 "Orphanet:568" -MONDO:0010261 "ICD10:Q87.8" MONDO:0010261 "Orphanet:2712" MONDO:0010261 "ICD9:759.89" MONDO:0011546 "Orphanet:450" @@ -101779,22 +99230,20 @@ MONDO:0015827 "Orphanet:18" MONDO:0015827 "GARD:0004667" MONDO:0015827 "OMIM:267300" MONDO:0015827 "OMIM:611590" -MONDO:0015827 "ICD10:N25.8" MONDO:0015827 "MedDRA:10045224" MONDO:0015827 "HP:0008341" MONDO:0015827 "OMIMPS:179800" +MONDO:0015827 "ICD10CM:N25.8" MONDO:0015827 "ICD9:588.89" MONDO:0015827 "OMIM:179800" MONDO:0015827 "SCTID:236461000" MONDO:0004917 "UMLS:C0085690" MONDO:0004917 "DOID:9908" -MONDO:0004917 "ICD10:H00.02" MONDO:0004917 "SCTID:414521009" MONDO:0004917 "ICD9:373.12" MONDO:0010328 "Orphanet:231401" -MONDO:0010328 "ICD10:D56.0" +MONDO:0010328 "ICD10CM:D56.0" MONDO:0010328 "UMLS:C0585216" -MONDO:0010328 "ICD10:D46.7" MONDO:0010328 "SCTID:307343001" MONDO:0010328 "ICD9:282.49" MONDO:0010328 "OMIM:300448" @@ -101806,10 +99255,10 @@ MONDO:0015428 "GARD:0003704" MONDO:0015428 "Orphanet:1433" MONDO:0015428 "SCTID:720850008" MONDO:0015428 "UMLS:C2931026" -MONDO:0015604 "ICD10:Q16.4" +MONDO:0015604 "ICD10CM:Q16.4" MONDO:0015604 "Orphanet:164004" MONDO:0015604 "MedDRA:10060957" -MONDO:0015604 "ICD10:Q16.3" +MONDO:0015604 "ICD10CM:Q16.3" MONDO:0005111 "EFO:0000769" MONDO:0005111 "UMLS:C0149678" MONDO:0005111 "MESH:D020031" @@ -101823,6 +99272,7 @@ MONDO:0008311 "UMLS:C1261128" MONDO:0008311 "Orphanet:2959" MONDO:0044328 "OMIM:617925" MONDO:0044328 "UMLS:CN902090" +MONDO:0021697 "ICD10CM:A70-A74" MONDO:0021697 "EFO:1000863" MONDO:0021697 "MESH:D023521" MONDO:0021697 "MESH:D002690" @@ -101832,7 +99282,7 @@ MONDO:0014424 "UMLS:C1863081" MONDO:0014424 "Orphanet:168612" MONDO:0014424 "MESH:C566300" MONDO:0012150 "OMIM:608904" -MONDO:0007114 "ICD10:Q78.8" +MONDO:0007114 "ICD10CM:Q78.8" MONDO:0007114 "MESH:C536361" MONDO:0007114 "GARD:0000671" MONDO:0007114 "OMIM:105835" @@ -101840,23 +99290,22 @@ MONDO:0007114 "SCTID:720984008" MONDO:0007114 "Orphanet:63442" MONDO:0007114 "MedDRA:10066017" MONDO:0019682 "Orphanet:93400" -MONDO:0019682 "ICD10:E77.1" +MONDO:0019682 "ICD10CM:E77.1" MONDO:0016032 "SCTID:93255008" MONDO:0016032 "GARD:0001503" MONDO:0016032 "Orphanet:1987" -MONDO:0016032 "ICD10:Q72.4" MONDO:0016032 "ICD9:755.34" -MONDO:0019549 "SCTID:766977007" -MONDO:0019549 "ICD10:G60.0" -MONDO:0019549 "UMLS:CN206378" -MONDO:0019549 "Orphanet:90118" MONDO:0018485 "SCTID:722343009" -MONDO:0018485 "ICD10:E74.0" +MONDO:0018485 "ICD10CM:E74.0" MONDO:0018485 "Orphanet:420429" MONDO:0018485 "UMLS:C3888925" MONDO:0018485 "UMLS:C0342753" MONDO:0010515 "OMIM:300989" MONDO:0010515 "UMLS:C4310811" +MONDO:0019549 "SCTID:766977007" +MONDO:0019549 "UMLS:CN206378" +MONDO:0019549 "Orphanet:90118" +MONDO:0019549 "ICD10CM:G60.0" MONDO:0018875 "ICD9:V84.01" MONDO:0018875 "OMIM:609266" MONDO:0018875 "OMIM:151623" @@ -101870,7 +99319,7 @@ MONDO:0018875 "NCIT:C3476" MONDO:0018875 "UMLS:C0085390" MONDO:0018875 "DOID:3012" MONDO:0018875 "MedDRA:10066795" -MONDO:0018875 "ICD10:D48.9" +MONDO:0018875 "ICD10CM:D48.9" MONDO:0008639 "OMIM:192300" MONDO:0006552 "MESH:D005499" MONDO:0006552 "Wikipedia:Folliculitis" @@ -101906,31 +99355,28 @@ MONDO:0004227 "DOID:745" MONDO:0004227 "UMLS:C1333415" MONDO:0015273 "ICD9:745.69" MONDO:0015273 "SCTID:360481003" -MONDO:0015273 "ICD10:Q21.2" +MONDO:0015273 "ICD10CM:Q21.2" MONDO:0015273 "MESH:C535974" MONDO:0015273 "GARD:0001454" MONDO:0015273 "Orphanet:1329" MONDO:0017473 "Orphanet:295041" -MONDO:0017473 "ICD10:Q74.1" +MONDO:0017473 "ICD10CM:Q74.1" MONDO:0032619 "OMIM:618236" MONDO:0011956 "OMIM:608049" -MONDO:0004594 "ICD10:O88.21" MONDO:0004594 "ICD9:673" MONDO:0004594 "ICD9:673.81" MONDO:0004594 "DOID:8512" -MONDO:0004594 "ICD10:O88.23" MONDO:0004594 "ICD9:673.80" MONDO:0004594 "SCTID:200284000" MONDO:0024458 "SCTID:128127008" MONDO:0009282 "UMLS:C0268596" MONDO:0009282 "Orphanet:26791" -MONDO:0009282 "ICD10:E71.3" MONDO:0009282 "GARD:0006523" -MONDO:0009282 "ICD10:E71.313" MONDO:0009282 "DOID:0060358" MONDO:0009282 "NCIT:C99102" MONDO:0009282 "NCIT:C84907" MONDO:0009282 "OMIM:231680" +MONDO:0009282 "ICD10CM:E71.3" MONDO:0003397 "UMLS:C0017567" MONDO:0003397 "SCTID:54711002" MONDO:0003397 "DOID:5338" @@ -101958,53 +99404,51 @@ MONDO:0023540 "GARD:0000191" MONDO:0007284 "Orphanet:98994" MONDO:0007284 "Orphanet:91492" MONDO:0007284 "OMIM:116100" -MONDO:0007284 "ICD10:Q12.0" MONDO:0007284 "DOID:0110240" MONDO:0005668 "OMIM:145300" MONDO:0005668 "MedDRA:10004941" MONDO:0005668 "NCIT:C34425" +MONDO:0005668 "ICD10CM:J67.2" MONDO:0005668 "UMLS:C0005592" MONDO:0005668 "Orphanet:99908" MONDO:0005668 "DOID:13891" MONDO:0005668 "ICD9:495.2" -MONDO:0005668 "ICD10:J67.2" MONDO:0005668 "EFO:0007170" MONDO:0005668 "MESH:D001716" MONDO:0005668 "SCTID:69339004" NCBITaxon:186938 "GC_ID:1" MONDO:0004781 "EFO:0008583" MONDO:0004781 "UMLS:C0155626" -MONDO:0004781 "ICD10:I21.9" MONDO:0004781 "SCTID:57054005" MONDO:0004781 "ICD9:410.92" MONDO:0004781 "ICD9:410.91" MONDO:0004781 "ICD9:410" MONDO:0004781 "ICD9:410.9" MONDO:0004781 "ICD9:410.90" +MONDO:0004781 "ICD10CM:I21.9" MONDO:0004781 "DOID:9408" MONDO:0004781 "ICD9:410.82" MONDO:0004781 "NCIT:C35204" MONDO:0004781 "ICD9:410.81" -MONDO:0004781 "ICD10:I21.3" MONDO:0004781 "ICD9:410.80" MONDO:0021246 "NCIT:C3325" MONDO:0003584 "SCTID:128329001" MONDO:0003584 "DOID:5691" MONDO:0003584 "UMLS:C0234398" MONDO:0003584 "ICD9:377.7" -MONDO:0003584 "ICD10:H47.6" +MONDO:0003584 "ICD10CM:H47.6" MONDO:0003584 "NCIT:C35275" MONDO:0012536 "OMIM:610682" MONDO:0012536 "Orphanet:216812" MONDO:0012536 "Orphanet:216820" MONDO:0012536 "Orphanet:216804" MONDO:0012536 "UMLS:C1853162" +MONDO:0012536 "ICD10CM:Q78.0" MONDO:0012536 "GARD:0008701" -MONDO:0012536 "ICD10:Q78.0" MONDO:0012536 "SCTID:254111008" MONDO:0012536 "DOID:0110337" MONDO:0019231 "UMLS:CN227596" -MONDO:0019231 "ICD10:E74.8" +MONDO:0019231 "ICD10CM:E74.8" MONDO:0019231 "Orphanet:79186" MONDO:0006960 "DOID:11446" MONDO:0006960 "MedDRA:10048950" @@ -102013,17 +99457,16 @@ MONDO:0006960 "EFO:1001166" MONDO:0006960 "UMLS:C0149940" MONDO:0006960 "MESH:D020426" MONDO:0018381 "NCIT:C34879" -MONDO:0018381 "ICD10:M92" +MONDO:0018381 "SCTID:19579005" MONDO:0018381 "GARD:0012704" MONDO:0018381 "UMLS:C0029429" MONDO:0018381 "Orphanet:399319" MONDO:0018381 "DOID:8125" -MONDO:0018381 "ICD10:M93.9" +MONDO:0018381 "ICD10CM:M42" +MONDO:0018381 "ICD10CM:M93.9" MONDO:0018381 "MESH:D055034" MONDO:0018381 "ICD9:732.6" -MONDO:0018381 "ICD10:M42" MONDO:0018381 "EFO:0008575" -MONDO:0018381 "SCTID:19579005" MONDO:0006272 "EFO:1000328" MONDO:0006272 "NCIT:C45202" MONDO:0006272 "SCTID:404088004" @@ -102040,13 +99483,13 @@ MONDO:0016722 "MedDRA:10050487" MONDO:0016722 "ICDO:9362/3" MONDO:0016722 "NCIT:C9344" MONDO:0016722 "GARD:0009369" -MONDO:0016722 "ICD10:C75.3" +MONDO:0016722 "ICD10CM:C75.3" MONDO:0016722 "UMLS:C0205898" MONDO:0035370 "Orphanet:597887" +MONDO:0020385 "ICD10CM:Q20.3" MONDO:0020385 "Orphanet:99042" -MONDO:0020385 "ICD10:Q20.3" +MONDO:0014717 "ICD10CM:G40.3" MONDO:0014717 "DOID:0111445" -MONDO:0014717 "ICD10:G40.3" MONDO:0014717 "SCTID:733082001" MONDO:0014717 "OMIM:616640" MONDO:0014717 "Orphanet:324290" @@ -102059,12 +99502,12 @@ MONDO:0020561 "OMIM:613488" MONDO:0020561 "ONCOTREE:MRLS" MONDO:0020561 "MESH:D018208" MONDO:0020561 "Orphanet:99967" -MONDO:0020561 "ICD10:C49.9" +MONDO:0020561 "ICD10CM:C49.9" MONDO:0003763 "SCTID:67195008" +MONDO:0003763 "ICD10CM:F43.0" MONDO:0003763 "EFO:0005223" MONDO:0003763 "DOID:6088" MONDO:0003763 "ICD9:308.3" -MONDO:0003763 "ICD10:F43.0" MONDO:0003763 "NCIT:C92621" MONDO:0003763 "Wikipedia:Acute_stress_reaction" MONDO:0003763 "ICD9:308.9" @@ -102077,9 +99520,9 @@ MONDO:0022687 "SCTID:95646004" MONDO:0022687 "UMLS:C0262404" MONDO:0022687 "ICD9:331.9" MONDO:0022687 "SCTID:418143002" -NCBITaxon:1980415 "GC_ID:1" HP:0000233 "SNOMEDCT_US:301348000" HP:0000233 "UMLS:C0578038" +NCBITaxon:1980415 "GC_ID:1" MONDO:0014394 "OMIM:615909" MONDO:0014394 "UMLS:C4014641" MONDO:0014394 "Orphanet:124" @@ -102091,8 +99534,8 @@ MONDO:0004509 "DOID:8230" MONDO:0004509 "NCIT:C7125" MONDO:0004509 "UMLS:C1334258" MONDO:0019114 "Orphanet:71519" -MONDO:0019114 "ICD10:F44.4" MONDO:0019114 "MedDRA:10072376" +MONDO:0019114 "ICD10CM:F44.4" MONDO:0019114 "UMLS:C3267131" MONDO:0001771 "ICD9:598.00" MONDO:0001771 "DOID:13658" @@ -102110,7 +99553,6 @@ MONDO:0012759 "UMLS:C2677809" MONDO:0012759 "Orphanet:488434" MONDO:0012759 "MESH:C567455" MONDO:0007542 "UMLS:C0011989" -MONDO:0007542 "ICD10:Q78.3" MONDO:0007542 "GARD:0001072" MONDO:0007542 "ICD9:756.59" MONDO:0007542 "OMIM:606631" @@ -102165,7 +99607,7 @@ CL:0000623 "CALOHA:TS-0664" CL:0000623 "FMA:83601" MONDO:0014309 "OMIM:615703" MONDO:0014309 "UMLS:C3810324" -MONDO:0014309 "ICD10:E66.8" +MONDO:0014309 "ICD10CM:E66.8" MONDO:0014309 "Orphanet:397615" MONDO:0006962 "DOID:4840" MONDO:0006962 "ICDO:8410/3" @@ -102176,15 +99618,14 @@ MONDO:0006962 "EFO:1001171" MONDO:0006962 "NCIT:C40310" MONDO:0006962 "MESH:D018266" MONDO:0006962 "NCIT:C8409" -MONDO:0006962 "ICD10:C44" MONDO:0006962 "UMLS:C1382026" MONDO:0006962 "SCTID:307599002" MONDO:0013268 "OMIM:613451" MONDO:0013268 "GARD:0012641" +MONDO:0013268 "ICD10CM:Q87.0" MONDO:0013268 "Orphanet:228390" MONDO:0013268 "SCTID:725029001" MONDO:0013268 "UMLS:C3150703" -MONDO:0013268 "ICD10:Q87.0" MONDO:0015123 "Orphanet:101953" NCBITaxon:348386 "GC_ID:1" MONDO:0012245 "UMLS:C0270855" @@ -102206,37 +99647,35 @@ MONDO:0033044 "DOID:0080253" MONDO:0015880 "Orphanet:180779" MONDO:0015880 "UMLS:CN226770" MONDO:0019010 "Orphanet:657" -MONDO:0019010 "ICD10:E16.1" +MONDO:0019010 "ICD10CM:E16.1" MONDO:0019010 "NCIT:C122923" MONDO:0019010 "GARD:0003947" MONDO:0001016 "UMLS:C0153602" MONDO:0001016 "ICD9:187.5" -MONDO:0001016 "SCTID:363452003" MONDO:0001016 "NCIT:C3558" -MONDO:0001016 "ICD10:C63.0" +MONDO:0001016 "SCTID:363452003" MONDO:0001016 "DOID:10366" MONDO:0016501 "Orphanet:231500" +MONDO:0016501 "ICD10CM:E70.3" MONDO:0016501 "OMIM:203300" MONDO:0016501 "OMIM:614073" MONDO:0016501 "UMLS:CN201506" -MONDO:0016501 "ICD10:E70.3" MONDO:0060568 "Orphanet:529965" MONDO:0060568 "OMIM:617682" MONDO:0060568 "UMLS:C4540131" -MONDO:0020164 "ICD10:Q10.3" +MONDO:0020164 "ICD10CM:Q10.3" MONDO:0020164 "Orphanet:98573" MONDO:0011486 "Orphanet:98893" MONDO:0011486 "SCTID:764944006" -MONDO:0011486 "ICD10:G71.2" MONDO:0011486 "MESH:C565748" MONDO:0011486 "DOID:0110634" +MONDO:0011486 "ICD10CM:G71.2" MONDO:0011486 "UMLS:C1858118" MONDO:0011486 "OMIM:604801" MONDO:0012128 "GARD:0007795" MONDO:0012128 "OMIM:608808" -MONDO:0012128 "Orphanet:860" MONDO:0012128 "DOID:0060771" -MONDO:0012128 "ICD10:Q20.3" +MONDO:0012128 "Orphanet:860" MONDO:0012128 "MESH:C563853" MONDO:0012128 "UMLS:C1837341" MONDO:0054805 "OMIM:617984" @@ -102245,8 +99684,8 @@ MONDO:0013686 "SCTID:711265009" MONDO:0013686 "DOID:0111191" MONDO:0013686 "Orphanet:488650" MONDO:0013686 "OMIM:614321" -MONDO:0015763 "ICD10:Q92.1" MONDO:0015763 "Orphanet:1723" +MONDO:0015763 "ICD10CM:Q92.1" MONDO:0015763 "SCTID:764623009" MONDO:0015763 "UMLS:CN073991" MONDO:0015763 "GARD:0005331" @@ -102257,7 +99696,6 @@ MONDO:0002457 "MedDRA:10051456" MONDO:0002457 "SCTID:62767009" MONDO:0002457 "NCIT:C75018" MONDO:0002457 "OMIM:154500" -MONDO:0002457 "ICD10:Q75.4" MONDO:0002457 "OMIM:613717" MONDO:0002457 "OMIMPS:154500" MONDO:0002457 "UMLS:C0265241" @@ -102265,10 +99703,11 @@ MONDO:0002457 "MESH:D008342" MONDO:0002457 "DOID:2908" MONDO:0002457 "OMIM:248390" MONDO:0002457 "GARD:0009124" +MONDO:0002457 "ICD10CM:Q75.4" MONDO:0018055 "GARD:0009331" MONDO:0018055 "Orphanet:33402" MONDO:0018055 "DOID:0070322" -MONDO:0018055 "ICD10:C22.0" +MONDO:0018055 "ICD10CM:C22.0" MONDO:0018055 "NCIT:C7955" MONDO:0018055 "UMLS:CN204349" MONDO:0002633 "UMLS:C0010267" @@ -102288,33 +99727,33 @@ MONDO:0007145 "Orphanet:1114" MONDO:0007145 "SCTID:35484002" MONDO:0007145 "GARD:0005835" MONDO:0007145 "NCIT:C98822" +MONDO:0007145 "ICD10CM:Q84.8" MONDO:0007145 "OMIM:107600" MONDO:0007145 "ICD9:757.39" -MONDO:0007145 "ICD10:Q84.8" MONDO:0007145 "HP:0001057" CL:0002321 "WBbt:0007028" CL:0002321 "FMA:82840" CL:0002321 "FMA:82841" CL:0002321 "CALOHA:TS-0263" +MONDO:0017942 "ICD10CM:B33.8" MONDO:0017942 "Orphanet:324632" -MONDO:0017942 "ICD10:B33.8" -MONDO:0005833 "SCTID:362971004" -MONDO:0005833 "EFO:0007352" MONDO:0005833 "DOID:75" -MONDO:0005833 "NCIT:C50764" MONDO:0005833 "MESH:D008206" MONDO:0005833 "UMLS:C0024228" +MONDO:0005833 "EFO:0007352" +MONDO:0005833 "SCTID:362971004" +MONDO:0005833 "ICD10CM:I80-I89" +MONDO:0005833 "NCIT:C50764" MONDO:0011369 "UMLS:C1863551" MONDO:0011369 "OMIM:603776" MONDO:0011369 "MESH:C566337" -MONDO:0001413 "ICD10:A21.0" MONDO:0001413 "UMLS:C0152941" MONDO:0001413 "ICD9:021.0" MONDO:0001413 "DOID:11990" MONDO:0001413 "SCTID:37722001" +MONDO:0001413 "ICD10CM:A21.0" NCBITaxon:34486 "GC_ID:1" MONDO:0030012 "OMIM:618846" -MONDO:0012701 "ICD10:Q12.0" MONDO:0012701 "DOID:0110239" MONDO:0012701 "Orphanet:91492" MONDO:0012701 "MESH:C566909" @@ -102326,7 +99765,6 @@ MONDO:0003061 "MESH:D009214" MONDO:0003061 "NCIT:C4063" MONDO:0003061 "MESH:D009379" MONDO:0003061 "DOID:2691" -MONDO:0003061 "ICD10:D21" MONDO:0003061 "ICDO:8895/0" MONDO:0003061 "NCIT:C4882" MONDO:0003061 "DOID:461" @@ -102337,7 +99775,7 @@ MONDO:0006578 "UMLS:C1334662" MONDO:0006578 "DOID:3926" MONDO:0006578 "EFO:1000732" MONDO:0006578 "NCIT:C27488" -MONDO:0017296 "ICD10:E74.8" +MONDO:0017296 "ICD10CM:E74.8" MONDO:0017296 "Orphanet:284414" MONDO:0017296 "OMIM:307030" MONDO:0008481 "OMIM:184300" @@ -102367,21 +99805,21 @@ MONDO:0016930 "Orphanet:262643" MONDO:0009954 "GARD:0007523" MONDO:0009954 "MESH:C535285" MONDO:0009954 "OMIM:266270" -MONDO:0009954 "ICD10:Q87.8" +MONDO:0009954 "ICD10CM:Q87.8" MONDO:0009954 "Orphanet:3019" MONDO:0009954 "UMLS:C0796133" MONDO:0010357 "OMIM:300551" MONDO:0014173 "UMLS:C3809431" MONDO:0014173 "OMIM:615414" MONDO:0014173 "DOID:0070287" +MONDO:0020422 "ICD10CM:Q24.5" MONDO:0020422 "Orphanet:99086" -MONDO:0020422 "ICD10:Q24.5" MONDO:0002854 "NCIT:C7731" MONDO:0002854 "DOID:4054" MONDO:0002854 "UMLS:C0238393" -MONDO:0001600 "ICD10:K11.6" MONDO:0001600 "MESH:D011900" MONDO:0001600 "NCIT:C27649" +MONDO:0001600 "ICD10CM:K11.6" MONDO:0001600 "ICD9:527.6" MONDO:0001600 "SCTID:69825009" MONDO:0001600 "DOID:12904" @@ -102389,7 +99827,6 @@ MONDO:0001600 "UMLS:C2242813" MONDO:0001600 "UMLS:C0026686" MONDO:0011808 "MESH:C564596" MONDO:0011808 "OMIM:607304" -MONDO:0011808 "ICD10:Q12.0" MONDO:0011808 "DOID:0110233" MONDO:0011808 "UMLS:C1846520" MONDO:0011808 "Orphanet:98991" @@ -102398,7 +99835,7 @@ MONDO:0003800 "UMLS:C1333158" MONDO:0003800 "DOID:6197" MONDO:0003800 "NCIT:C9425" MONDO:0019895 "Orphanet:96145" -MONDO:0019895 "ICD10:Q93.5" +MONDO:0019895 "ICD10CM:Q93.5" MONDO:0018698 "Orphanet:456333" MONDO:0018698 "UMLS:CN237770" MONDO:0018698 "UMLS:CN847586" @@ -102419,11 +99856,11 @@ HP:0008321 "UMLS:C4024702" HP:0008321 "MSH:D005171" HP:0008321 "UMLS:C0015519" HP:0008321 "SNOMEDCT_US:76642003" +MONDO:0015312 "ICD10CM:Q30.0" MONDO:0015312 "Orphanet:137917" -MONDO:0015312 "ICD10:Q30.0" MONDO:0015312 "UMLS:CN199280" +MONDO:0017512 "ICD10CM:Q71.6" MONDO:0017512 "Orphanet:295122" -MONDO:0017512 "ICD10:Q71.6" MONDO:0002353 "UMLS:C0345713" MONDO:0002353 "SCTID:126693009" MONDO:0002353 "NCIT:C4425" @@ -102431,7 +99868,7 @@ MONDO:0002353 "DOID:2597" MONDO:0001290 "NCIT:C35119" MONDO:0001290 "DOID:11450" MONDO:0017558 "Orphanet:295225" -MONDO:0017558 "ICD10:Q68.8" +MONDO:0017558 "ICD10CM:Q68.8" MONDO:0013118 "UMLS:C2751318" MONDO:0013118 "MESH:C567767" MONDO:0013118 "NCIT:C153178" @@ -102445,7 +99882,6 @@ NCBITaxon:2049 "PMID:19244447" NCBITaxon:2049 "PMID:16558803" MONDO:0001594 "DOID:12857" MONDO:0001594 "ICD9:726.71" -MONDO:0001594 "ICD10:M76.6" MONDO:0001594 "UMLS:C0149846" MONDO:0002236 "ICD9:239.89" MONDO:0002236 "NCIT:C3030" @@ -102457,19 +99893,18 @@ MONDO:0002236 "ICD9:190.8" NCBITaxon:11082 "GC_ID:1" MONDO:0020014 "UMLS:CN206947" MONDO:0020014 "Orphanet:98027" -MONDO:0013780 "ICD10:H35.5" MONDO:0013780 "Orphanet:791" MONDO:0013780 "UMLS:C3281002" MONDO:0013780 "OMIM:614494" MONDO:0013780 "DOID:0110385" HP:0001384 "UMLS:C4020870" -MONDO:0019487 "ICD10:G40.4" +MONDO:0019487 "ICD10CM:G40.4" MONDO:0019487 "Orphanet:86911" MONDO:0019487 "SCTID:230422001" MONDO:0019316 "GARD:0013079" MONDO:0019316 "NCIT:C3433" -MONDO:0019316 "ICD10:Q82.2" MONDO:0019316 "SCTID:78745000" +MONDO:0019316 "ICD10CM:Q82.2" MONDO:0019316 "DOID:12309" MONDO:0019316 "Orphanet:79457" MONDO:0019316 "ICD9:708.8" @@ -102479,7 +99914,7 @@ MONDO:0019316 "MedDRA:10046752" MONDO:0019316 "OMIM:154800" MONDO:0031002 "OMIM:619255" MONDO:0044210 "SCDO:0000114" -MONDO:0044210 "ICD10:D56.3" +MONDO:0044210 "ICD10CM:D56.3" MONDO:0044210 "SCTID:19442009" MONDO:0044210 "MedDRA:10054662" MONDO:0006095 "EFO:1000097" @@ -102492,8 +99927,8 @@ MONDO:0000107 "MESH:C538270" MONDO:0000107 "OMIM:612798" MONDO:0000107 "SCTID:702443003" MONDO:0000107 "UMLS:C1865295" +MONDO:0000107 "ICD10CM:Q75.8" MONDO:0000107 "UMLS:CN160484" -MONDO:0000107 "ICD10:Q75.8" MONDO:0000107 "OMIM:602483" MONDO:0000107 "OMIM:614669" MONDO:0000107 "OMIM:615706" @@ -102519,16 +99954,15 @@ MONDO:0010945 "DOID:0110404" MONDO:0010945 "GARD:0010387" MONDO:0010945 "OMIM:600852" MONDO:0010945 "UMLS:C1833245" -MONDO:0010945 "ICD10:H35.5" MONDO:0010945 "MESH:C563437" MONDO:0013851 "UMLS:C3808553" +MONDO:0013851 "ICD10CM:D61.0" MONDO:0013851 "Orphanet:314399" MONDO:0013851 "UMLS:CN203751" MONDO:0013851 "OMIM:614675" -MONDO:0013851 "ICD10:D61.0" MONDO:0017240 "OMIM:614613" +MONDO:0017240 "ICD10CM:Q75.4" MONDO:0017240 "OMIM:101800" -MONDO:0017240 "ICD10:Q75.4" MONDO:0017240 "UMLS:CN202748" MONDO:0017240 "Orphanet:280651" MONDO:0020611 "OMIM:110900" @@ -102542,11 +99976,11 @@ MONDO:0004970 "CSP:2000-0386" MONDO:0004970 "ICDO:8140/3" MONDO:0004970 "ONCOTREE:ADNOS" MONDO:0017107 "Orphanet:269203" -MONDO:0017107 "ICD10:Q04.3" +MONDO:0017107 "ICD10CM:Q04.3" MONDO:0007798 "Orphanet:247685" MONDO:0007798 "SCTID:20756002" MONDO:0007798 "UMLS:C0268413" -MONDO:0007798 "ICD10:E83.3" +MONDO:0007798 "ICD10CM:E83.3" MONDO:0007798 "DOID:0110913" MONDO:0007798 "Orphanet:247676" MONDO:0007798 "UMLS:C1840322" @@ -102554,17 +99988,17 @@ MONDO:0007798 "Orphanet:436" MONDO:0007798 "OMIM:146300" MONDO:0009354 "GARD:0002732" MONDO:0009354 "DOID:0050732" -MONDO:0009354 "ICD10:E72.1" MONDO:0009354 "OMIM:236270" MONDO:0009354 "Orphanet:2169" MONDO:0009354 "UMLS:C1856057" +MONDO:0009354 "ICD10CM:E72.1" MONDO:0009354 "Orphanet:622" MONDO:0009354 "NCIT:C142173" MONDO:0009354 "EFO:0005568" MONDO:0009354 "MESH:C565510" MONDO:0012703 "MESH:C566908" MONDO:0012703 "NCIT:C148461" -MONDO:0012703 "ICD10:Q04.3" +MONDO:0012703 "ICD10CM:Q04.3" MONDO:0012703 "Orphanet:171680" MONDO:0012703 "UMLS:CN200289" MONDO:0012703 "OMIM:611603" @@ -102574,30 +100008,28 @@ MONDO:0015282 "MESH:C537616" MONDO:0015282 "GARD:0001102" MONDO:0015282 "SCTID:720609003" MONDO:0019745 "MESH:C565652" -MONDO:0019745 "ICD10:E72.0" MONDO:0019745 "OMIM:220100" MONDO:0019745 "Orphanet:93612" +MONDO:0019745 "ICD10CM:E72.0" MONDO:0004196 "NCIT:C5556" MONDO:0004196 "UMLS:C1335689" MONDO:0004196 "DOID:7356" +MONDO:0004586 "SCTID:398726004" +MONDO:0004586 "DOID:849" +MONDO:0004586 "ICD9:714.81" +MONDO:0004586 "UMLS:C0994344" MONDO:0009557 "GARD:0003374" MONDO:0009557 "Orphanet:90153" MONDO:0009557 "MESH:C535705" MONDO:0009557 "SCTID:109419009" MONDO:0009557 "UMLS:CN236772" MONDO:0009557 "Orphanet:2457" -MONDO:0009557 "ICD10:Q87.5" +MONDO:0009557 "ICD10CM:Q87.5" MONDO:0009557 "UMLS:CN206381" MONDO:0009557 "OMIM:248370" MONDO:0009557 "NCIT:C123417" -MONDO:0004586 "SCTID:398726004" -MONDO:0004586 "DOID:849" -MONDO:0004586 "ICD9:714.81" -MONDO:0004586 "UMLS:C0994344" MONDO:0002152 "UMLS:C0152210" MONDO:0002152 "ICD9:378.20" -MONDO:0002152 "ICD10:H50.30" -MONDO:0002152 "ICD10:H50.3" MONDO:0002152 "ICD9:378.2" MONDO:0002152 "DOID:1942" MONDO:0002152 "SCTID:74025007" @@ -102617,17 +100049,16 @@ MONDO:0003389 "ICDO:8562/3" MONDO:0003389 "NCIT:C4199" MONDO:0003389 "DOID:5309" MONDO:0017747 "UMLS:CN227193" -MONDO:0017747 "ICD10:E77.8" +MONDO:0017747 "ICD10CM:E77.8" MONDO:0017747 "Orphanet:309505" MONDO:0010522 "DOID:0110059" MONDO:0010522 "OMIM:301201" MONDO:0010522 "UMLS:C1845051" MONDO:0010522 "Orphanet:100031" -MONDO:0010522 "ICD10:K00.5" MONDO:0010522 "GARD:0009944" -MONDO:0012591 "ICD10:Q78.0" MONDO:0012591 "UMLS:C1970414" MONDO:0012591 "MESH:C567042" +MONDO:0012591 "ICD10CM:Q78.0" MONDO:0012591 "GARD:0008699" MONDO:0012591 "OMIM:610967" MONDO:0012591 "DOID:0110344" @@ -102658,7 +100089,8 @@ MONDO:0002659 "UMLS:C1334629" MONDO:0017968 "UMLS:CN227231" MONDO:0017968 "Orphanet:325345" MONDO:0017968 "SCTID:763683004" -MONDO:0001444 "ICD10:B57.3" +MONDO:0001444 "ICD10CM:B57.0" +MONDO:0001444 "ICD10CM:B57" MONDO:0001444 "KEGG:05142" MONDO:0001444 "Orphanet:3386" MONDO:0001444 "UMLS:C0348782" @@ -102666,18 +100098,17 @@ MONDO:0001444 "NCIT:C84629" MONDO:0001444 "DOID:12140" MONDO:0001444 "MESH:D014355" MONDO:0001444 "EFO:0008559" -MONDO:0001444 "ICD10:B57.1" -MONDO:0001444 "ICD10:B57.2" MONDO:0001444 "UMLS:C0153125" MONDO:0001444 "UMLS:C0348781" MONDO:0001444 "UMLS:C0041234" -MONDO:0001444 "ICD10:B57.5" +MONDO:0001444 "ICD10CM:B57.2" +MONDO:0001444 "ICD10CM:B57.5" MONDO:0001444 "SCTID:77506005" MONDO:0001444 "MedDRA:10001935" -MONDO:0001444 "ICD10:B57.0" MONDO:0001444 "ICD9:086.2" -MONDO:0001444 "ICD10:B57.4" -MONDO:0001444 "ICD10:B57" +MONDO:0001444 "ICD10CM:B57.1" +MONDO:0001444 "ICD10CM:B57.3" +MONDO:0001444 "ICD10CM:B57.4" MONDO:0023603 "UMLS:C0410787" MONDO:0023603 "SCTID:363045008" MONDO:0023603 "NCIT:C97075" @@ -102686,7 +100117,6 @@ MONDO:0007347 "UMLS:C1861511" MONDO:0025082 "UMLS:C0018891" MONDO:0025082 "MESH:D006374" MONDO:0018914 "Orphanet:55654" -MONDO:0018914 "ICD10:L65.8" MONDO:0018914 "OMIM:614237" MONDO:0018914 "SCTID:723362004" MONDO:0018914 "OMIM:605389" @@ -102695,6 +100125,7 @@ MONDO:0018914 "UMLS:C1854310" MONDO:0018914 "OMIM:614238" MONDO:0018914 "MESH:C537160" MONDO:0018914 "OMIM:615059" +MONDO:0018914 "ICD10CM:L65.8" MONDO:0018914 "OMIM:278150" MONDO:0018914 "OMIM:604379" MONDO:0018914 "OMIM:615885" @@ -102706,28 +100137,27 @@ MONDO:0043251 "ICDO:9280/0" MONDO:0011430 "OMIM:116300" MONDO:0011430 "UMLS:CN207240" MONDO:0011430 "Orphanet:98986" -MONDO:0011430 "ICD10:Q12.0" MONDO:0011430 "UMLS:C1833118" MONDO:0011430 "MESH:C565133" MONDO:0011430 "Orphanet:98984" +MONDO:0011430 "ICD10CM:Q12.0" MONDO:0011430 "Orphanet:98995" MONDO:0011430 "Orphanet:91492" MONDO:0015976 "OMIM:608184" +MONDO:0015976 "ICD10CM:D80.5" MONDO:0015976 "OMIM:605258" MONDO:0015976 "Orphanet:183666" MONDO:0015976 "UMLS:CN200573" MONDO:0015976 "OMIM:608106" -MONDO:0015976 "ICD10:D80.5" +MONDO:0019075 "ICD10CM:Q87.8" MONDO:0019075 "OMIM:601536" MONDO:0019075 "Orphanet:69737" -MONDO:0019075 "ICD10:Q87.8" MONDO:0013630 "UMLS:C3280155" MONDO:0013630 "OMIM:614209" MONDO:0013630 "Orphanet:564" MONDO:0030077 "OMIM:618845" CL:0000570 "SCTID:176770005" CL:0000570 "FMA:68653" -MONDO:0002846 "ICD10:K29.6" MONDO:0002846 "UMLS:C1112577" MONDO:0002846 "NCIT:C27348" MONDO:0002846 "DOID:4038" @@ -102735,14 +100165,13 @@ MONDO:0020581 "UMLS:C3839685" MONDO:0020581 "NCIT:C121791" MONDO:0010692 "OMIM:310650" MONDO:0006602 "EFO:1000757" -MONDO:0006602 "ICD10:L56.5" +MONDO:0006602 "ICD10CM:Q82.8" MONDO:0006602 "ICD9:692.75" MONDO:0006602 "HP:0200044" MONDO:0006602 "OMIM:175800" MONDO:0006602 "OMIMPS:175800" MONDO:0006602 "SCTID:41495000" MONDO:0006602 "NCIT:C85019" -MONDO:0006602 "ICD10:Q82.8" MONDO:0006602 "SCTID:400080004" MONDO:0006602 "ICD9:757.39" MONDO:0006602 "SCTID:80432009" @@ -102753,16 +100182,17 @@ MONDO:0006602 "Orphanet:79358" MONDO:0006602 "MedDRA:10036175" MONDO:0015061 "UMLS:C0751549" MONDO:0015061 "Orphanet:100073" -MONDO:0015061 "ICD10:G54.0" +MONDO:0015061 "ICD10CM:G54.0" MONDO:0015061 "SCTID:2040007" MONDO:0019348 "UMLS:C4303790" MONDO:0019348 "Orphanet:82004" +MONDO:0019348 "OMIM:300537" MONDO:0019348 "SCTID:720857006" -MONDO:0019348 "ICD10:Q79.6" +MONDO:0019348 "ICD10CM:Q79.6" MONDO:0012012 "MESH:C564257" MONDO:0012012 "DOID:0110199" -MONDO:0012012 "ICD10:G60.0" MONDO:0012012 "SCTID:765746008" +MONDO:0012012 "ICD10CM:G60.0" MONDO:0012012 "GARD:0012439" MONDO:0012012 "OMIM:608323" MONDO:0012012 "UMLS:C1842237" @@ -102782,17 +100212,17 @@ MONDO:0004820 "NCIT:C41430" MONDO:0004820 "DOID:956" MONDO:0014386 "DOID:0111051" MONDO:0014386 "Orphanet:420566" +MONDO:0014386 "ICD10CM:D69.1" MONDO:0014386 "UMLS:C4014584" -MONDO:0014386 "ICD10:D69.1" MONDO:0014386 "OMIM:615888" MONDO:0020613 "OMIM:111130" MONDO:0018737 "SCTID:609329007" MONDO:0018737 "ICD9:289.81" MONDO:0018737 "UMLS:C3662487" -MONDO:0018737 "ICD10:D68.6" MONDO:0018737 "Orphanet:464343" MONDO:0018737 "UMLS:CN242096" MONDO:0018737 "GARD:0009820" +MONDO:0018737 "ICD10CM:D68.6" MONDO:0044874 "ONCOTREE:RCYC" MONDO:0044874 "NCIT:C82596" HP:0012535 "UMLS:C4021083" @@ -102807,49 +100237,46 @@ MONDO:0014223 "OMIM:615515" MONDO:0014223 "DOID:0060210" MONDO:0014223 "UMLS:C3715155" MONDO:0013453 "OMIM:613835" -MONDO:0013453 "ICD10:H35.5" MONDO:0013453 "UMLS:C3151202" MONDO:0013453 "DOID:0110079" MONDO:0013453 "GARD:0010881" MONDO:0016369 "UMLS:CN201234" +MONDO:0016369 "ICD10CM:Q82.8" MONDO:0016369 "Orphanet:221016" -MONDO:0016369 "ICD10:Q82.8" MONDO:0016369 "OMIM:268400" +MONDO:0017443 "ICD10CM:Q71.2" MONDO:0017443 "Orphanet:294979" -MONDO:0017443 "ICD10:Q71.2" MONDO:0005459 "GARD:0007826" +MONDO:0005459 "ICD10CM:B56.0" MONDO:0005459 "DOID:10112" MONDO:0005459 "MedDRA:10001461" MONDO:0005459 "EFO:0005225" MONDO:0005459 "SCTID:27031003" -MONDO:0005459 "ICD10:B56" MONDO:0005459 "KEGG:05143" -MONDO:0005459 "ICD10:B56.9" MONDO:0005459 "NCIT:C84541" MONDO:0005459 "MESH:D014353" +MONDO:0005459 "ICD10CM:B56.9" MONDO:0005459 "SCTID:78940002" -MONDO:0005459 "ICD10:B56.0" -MONDO:0005459 "ICD10:B56.1" +MONDO:0005459 "ICD10CM:B56" MONDO:0005459 "ICD9:086.5" MONDO:0005459 "Orphanet:3385" MONDO:0005459 "UMLS:C0041228" -MONDO:0015568 "ICD10:Q30.8" +MONDO:0005459 "ICD10CM:B56.1" +MONDO:0015568 "ICD10CM:Q30.8" MONDO:0015568 "Orphanet:162516" MONDO:0020229 "Orphanet:98645" MONDO:0020229 "UMLS:CN207057" -MONDO:0015451 "ICD10:Q20.4" MONDO:0015451 "MedDRA:10045545" MONDO:0015451 "Orphanet:1464" MONDO:0015451 "SCTID:253283000" MONDO:0015451 "ICD9:746.89" +MONDO:0019193 "DOID:0080300" MONDO:0019193 "GARD:0012603" -MONDO:0019193 "ICD10:E88.1" MONDO:0019193 "Orphanet:79086" MONDO:0019193 "SCTID:86907008" +MONDO:0019193 "ICD10CM:E88.1" MONDO:0019193 "NCIT:C131089" MONDO:0019193 "UMLS:C0271693" -MONDO:0019193 "DOID:0080300" -MONDO:0002438 "ICD10:D75.1" MONDO:0002438 "UMLS:C1318533" MONDO:0002438 "DOID:2834" MONDO:0002438 "ICD9:289.0" @@ -102864,9 +100291,9 @@ MONDO:0016684 "ONCOTREE:AASTR" MONDO:0016684 "NCIT:C9477" MONDO:0016684 "MedDRA:10002224" MONDO:0016684 "ICDO:9401/3" +MONDO:0016684 "ICD10CM:C71.9" MONDO:0016684 "MESH:D001254" MONDO:0016684 "Orphanet:251589" -MONDO:0016684 "ICD10:C71.9" MONDO:0032745 "OMIM:618430" MONDO:0027750 "Orphanet:250808" MONDO:0000160 "OMIMPS:601068" @@ -102875,7 +100302,7 @@ MONDO:0018884 "GARD:0004733" MONDO:0018884 "Orphanet:529" MONDO:0018884 "UMLS:C4274284" MONDO:0018884 "SCTID:716772007" -MONDO:0018884 "ICD10:E88.2" +MONDO:0018884 "ICD10CM:E88.2" MONDO:0008648 "GARD:0002263" MONDO:0008648 "SCTID:233906007" MONDO:0008648 "OMIM:192605" @@ -102884,25 +100311,25 @@ MONDO:0017630 "Orphanet:306617" MONDO:0017630 "GARD:0012525" MONDO:0044241 "OMIM:159410" MONDO:0009159 "MESH:C536200" +MONDO:0009159 "ICD10CM:Q79.6" MONDO:0009159 "SCTID:720858001" MONDO:0009159 "Orphanet:230851" MONDO:0009159 "OMIM:225320" MONDO:0009159 "GARD:0012613" -MONDO:0009159 "ICD10:Q79.6" MONDO:0012508 "Orphanet:83617" +MONDO:0012508 "ICD10CM:Q87.0" MONDO:0012508 "UMLS:C1864848" MONDO:0012508 "OMIM:610483" -MONDO:0012508 "ICD10:Q87.0" MONDO:0012508 "SCTID:722281001" MONDO:0012508 "GARD:0010011" MONDO:0012508 "MESH:C538055" MONDO:0001916 "ICD9:021.1" -MONDO:0001916 "ICD10:A21.3" MONDO:0001916 "ICD9:021.8" MONDO:0001916 "DOID:14239" +MONDO:0001916 "ICD10CM:A21.3" +MONDO:0007819 "ICD10CM:K00.2" MONDO:0007819 "MESH:C537342" MONDO:0007819 "Orphanet:280200" -MONDO:0007819 "ICD10:K00.2" MONDO:0007819 "SCTID:707609006" MONDO:0007819 "Orphanet:2286" MONDO:0007819 "GARD:0004877" @@ -102915,7 +100342,7 @@ CL:0000173 "FMA:70587" CL:0000173 "BTO:0000803" MONDO:0016892 "UMLS:C0795836" MONDO:0016892 "Orphanet:261938" -MONDO:0016892 "ICD10:Q93.5" +MONDO:0016892 "ICD10CM:Q93.5" MONDO:0021034 "Orphanet:481771" MONDO:0060764 "OMIM:273395" MONDO:0003879 "ICDO:8381/3" @@ -102923,7 +100350,7 @@ MONDO:0003879 "NCIT:C40060" MONDO:0003879 "UMLS:C1518711" MONDO:0003879 "DOID:6445" MONDO:0020360 "Orphanet:98949" -MONDO:0020360 "ICD10:Q11.2" +MONDO:0020360 "ICD10CM:Q11.2" MONDO:0020360 "DOID:0111719" MONDO:0021424 "UMLS:C0346084" MONDO:0021424 "NCIT:C4492" @@ -102933,6 +100360,7 @@ MONDO:0008835 "MESH:C565934" MONDO:0008835 "OMIM:208600" MONDO:0100393 "NCIT:C175583" MONDO:0008147 "GARD:0010142" +MONDO:0008147 "ICD10CM:Q78.0" MONDO:0008147 "OMIM:166210" MONDO:0008147 "NCIT:C99001" MONDO:0008147 "MESH:C536042" @@ -102941,7 +100369,6 @@ MONDO:0008147 "UMLS:CN536250" MONDO:0008147 "Orphanet:216804" MONDO:0008147 "DOID:0110341" MONDO:0008147 "OMIM:610915" -MONDO:0008147 "ICD10:Q78.0" MONDO:0008147 "OMIM:610682" MONDO:0008147 "OMIM:259440" MONDO:0011104 "Orphanet:1377" @@ -102951,7 +100378,6 @@ MONDO:0011104 "Orphanet:98994" MONDO:0011104 "Orphanet:91492" MONDO:0011104 "UMLS:C1832175" MONDO:0011104 "Orphanet:98991" -MONDO:0011104 "ICD10:Q12.0" MONDO:0011104 "MESH:C563294" MONDO:0011104 "OMIM:601547" MONDO:0011104 "DOID:0110269" @@ -102962,15 +100388,15 @@ MONDO:0023605 "ICD9:528.9" MONDO:0023605 "SCTID:238706002" MONDO:0023605 "UMLS:C0406425" MONDO:0023605 "GARD:0009669" -MONDO:0018212 "ICD10:I72.0" -MONDO:0018212 "ICD10:I72.5" +MONDO:0018212 "ICD10CM:I72.0" +MONDO:0018212 "ICD10CM:I72.5" MONDO:0018212 "UMLS:CN204734" MONDO:0018212 "Orphanet:36382" MONDO:0013949 "UMLS:C3554000" MONDO:0013949 "DOID:0080485" MONDO:0013949 "OMIM:614883" MONDO:0015826 "UMLS:CN200437" -MONDO:0015826 "ICD10:Q76.4" +MONDO:0015826 "ICD10CM:Q76.4" MONDO:0015826 "Orphanet:1797" MONDO:0015826 "UMLS:C4274761" MONDO:0015826 "OMIM:122600" @@ -102980,16 +100406,17 @@ MONDO:0021392 "SCTID:399505005" MONDO:0021392 "NCIT:C5679" MONDO:0005638 "MESH:D000377" MONDO:0005638 "MESH:D001072" -MONDO:0005638 "ICD10:R48.1" +MONDO:0005638 "ICD10CM:R48.2" MONDO:0005638 "SCTID:68345001" MONDO:0005638 "GARD:0000008" MONDO:0005638 "NCIT:C84542" MONDO:0005638 "EFO:0007136" +MONDO:0005638 "ICD10CM:R48.1" MONDO:0005638 "DOID:4090" -MONDO:0005638 "ICD10:R48.2" MONDO:0000667 "DOID:0060137" MONDO:0024481 "SCTID:238714008" MONDO:0024481 "UMLS:C0037272" +MONDO:0024481 "ICD10CM:L60-L75" MONDO:0004423 "DOID:7994" MONDO:0004423 "NCIT:C7002" MONDO:0004423 "UMLS:C1335150" @@ -103008,8 +100435,8 @@ MONDO:0009588 "ICD9:756.59" MONDO:0009588 "UMLS:C0432230" MONDO:0009588 "OMIM:249700" MONDO:0009588 "MESH:C537267" -MONDO:0009588 "ICD10:Q87.1" MONDO:0009588 "GARD:0003553" +MONDO:0009588 "ICD10CM:Q87.1" MONDO:0009588 "SCTID:38494008" MONDO:0009588 "Orphanet:2632" MONDO:0009588 "NCIT:C126876" @@ -103025,26 +100452,26 @@ MONDO:0005825 "MedDRA:10024238" MONDO:0005825 "NCIT:C84825" MONDO:0005825 "SCTID:77377001" MONDO:0005825 "UMLS:C0023364" -MONDO:0005825 "ICD10:A27.9" +MONDO:0005825 "ICD10CM:A27.9" MONDO:0005825 "SCTID:398067003" MONDO:0005825 "ICD9:100.0" +MONDO:0005825 "ICD10CM:A27" +MONDO:0005825 "ICD10CM:A27.0" MONDO:0005825 "MESH:D014895" MONDO:0005825 "MESH:D007922" MONDO:0005825 "DOID:2297" -MONDO:0005825 "ICD10:A27.0" MONDO:0005825 "GARD:0007881" MONDO:0005825 "ICD9:100.9" MONDO:0005825 "Orphanet:509" MONDO:0005825 "ICD9:100.89" MONDO:0005825 "EFO:0007344" -MONDO:0005825 "ICD10:A27.8" -MONDO:0005825 "ICD10:A27" +MONDO:0005825 "ICD10CM:A27.8" MONDO:0005825 "ICD9:100" NCBITaxon:1206795 "GC_ID:1" MONDO:0008544 "Orphanet:2564" +MONDO:0008544 "ICD10CM:Q73.8" MONDO:0008544 "OMIM:187510" MONDO:0008544 "UMLS:C1861233" -MONDO:0008544 "ICD10:Q73.8" MONDO:0008544 "MESH:C566066" MONDO:0008544 "GARD:0003707" MONDO:0016558 "OMIMPS:157600" @@ -103067,8 +100494,8 @@ MONDO:0012044 "UMLS:C1837974" MONDO:0012044 "Orphanet:98964" MONDO:0012044 "GARD:0010320" MONDO:0012044 "MESH:C563923" +MONDO:0011274 "ICD10CM:Q87.0" MONDO:0011274 "OMIM:602849" -MONDO:0011274 "ICD10:Q87.0" MONDO:0011274 "Orphanet:53271" MONDO:0011274 "SCTID:440350001" MONDO:0011274 "MESH:C537369" @@ -103076,7 +100503,7 @@ MONDO:0011274 "DOID:0060703" MONDO:0011274 "GARD:0007097" MONDO:0011274 "NCIT:C84904" MONDO:0011274 "UMLS:C1864436" -MONDO:0001780 "ICD10:F52.4" +MONDO:0001780 "ICD10CM:F52.4" MONDO:0001780 "NCIT:C94349" MONDO:0001780 "MESH:D061686" MONDO:0001780 "ICD9:302.75" @@ -103088,26 +100515,26 @@ MONDO:0007683 "OMIM:138930" MONDO:0007683 "UMLS:C1841835" MONDO:0007683 "Orphanet:2097" MONDO:0007683 "MESH:C537293" -MONDO:0007683 "ICD10:Q87.5" +MONDO:0007683 "ICD10CM:Q87.5" MONDO:0012220 "GARD:0009715" MONDO:0012220 "Orphanet:381" MONDO:0012220 "Orphanet:79478" MONDO:0012220 "UMLS:C1836573" -MONDO:0012220 "ICD10:E70.3" +MONDO:0012220 "ICD10CM:E70.3" MONDO:0012220 "OMIM:609227" MONDO:0012220 "MESH:C537303" MONDO:0012220 "DOID:0060834" MONDO:0008427 "OMIM:182220" MONDO:0009985 "SCTID:724000006" MONDO:0009985 "Orphanet:3087" +MONDO:0009985 "ICD10CM:Q87.8" MONDO:0009985 "OMIM:268040" MONDO:0009985 "GARD:0004685" MONDO:0009985 "MESH:C564839" -MONDO:0009985 "ICD10:Q87.8" MONDO:0009985 "UMLS:C1849399" -MONDO:0017999 "ICD10:G23.0" MONDO:0017999 "GARD:0010810" MONDO:0017999 "Orphanet:329308" +MONDO:0017999 "ICD10CM:G23.0" MONDO:0012913 "Orphanet:893" MONDO:0012913 "MESH:C567292" MONDO:0012913 "OMIM:612469" @@ -103115,8 +100542,6 @@ MONDO:0012913 "UMLS:C2675904" MONDO:0012913 "NCIT:C122804" MONDO:0001719 "UMLS:C0153218" MONDO:0001719 "SCTID:46699001" -MONDO:0001719 "ICD10:M73.0" -MONDO:0001719 "ICD10:A54.49" MONDO:0001719 "ICD9:098.52" MONDO:0001719 "DOID:13453" MONDO:0008837 "MESH:C565932" @@ -103135,9 +100560,9 @@ MONDO:0010262 "OMIM:300184" MONDO:0007870 "OMIM:149600" MONDO:0009031 "DOID:0080032" MONDO:0009031 "Orphanet:1513" -MONDO:0009031 "ICD10:M85.2" MONDO:0009031 "MESH:C562940" MONDO:0009031 "SCTID:205506004" +MONDO:0009031 "ICD10CM:M85.2" MONDO:0009031 "UMLS:C0410539" MONDO:0009031 "OMIM:218300" MONDO:0009031 "OMIM:122860" @@ -103147,11 +100572,11 @@ MONDO:0009031 "ICD9:756.59" MONDO:0010329 "UMLS:C1845499" MONDO:0010329 "MESH:C564511" MONDO:0010329 "OMIM:300454" +MONDO:0017045 "ICD10CM:E31.8" MONDO:0017045 "SCTID:724090001" MONDO:0017045 "UMLS:CN202391" MONDO:0017045 "Orphanet:2676" MONDO:0017045 "GARD:0003959" -MONDO:0017045 "ICD10:E31.8" MONDO:0015429 "UMLS:CN226680" MONDO:0015429 "Orphanet:1434" MONDO:0045002 "UMLS:C2316319" @@ -103164,11 +100589,10 @@ MONDO:0007050 "Orphanet:964" MONDO:0019934 "Orphanet:96321" MONDO:0019934 "SCTID:72991005" MONDO:0019934 "MESH:D011123" -MONDO:0019934 "ICD10:Q92.7" MONDO:0009009 "OMIM:217090" +MONDO:0009009 "ICD10CM:L90.5" MONDO:0009009 "UMLS:C1968804" MONDO:0009009 "Orphanet:722" -MONDO:0009009 "ICD10:L90.5" MONDO:0009009 "SCTID:95840007" MONDO:0009009 "GARD:0004380" MONDO:0009009 "MESH:C580017" @@ -103187,7 +100611,7 @@ MONDO:0009480 "GARD:0009455" MONDO:0009480 "UMLS:C1855675" MONDO:0009480 "OMIM:614465" MONDO:0009480 "OMIM:614424" -MONDO:0009480 "ICD10:Q04.3" +MONDO:0009480 "ICD10CM:Q04.3" MONDO:0009480 "OMIM:243910" MONDO:0009480 "MESH:C537430" MONDO:0009480 "OMIM:614844" @@ -103198,9 +100622,9 @@ MONDO:0010106 "OMIM:273150" MONDO:0020783 "OMIM:608354" MONDO:0011664 "UMLS:C1853392" MONDO:0011664 "Orphanet:169100" +MONDO:0011664 "ICD10CM:D81.2" MONDO:0011664 "MESH:C565232" MONDO:0011664 "OMIM:606367" -MONDO:0011664 "ICD10:D81.2" CL:1000376 "FMA:263182" MONDO:0012897 "UMLS:C0015523" MONDO:0012897 "SCTID:49762007" @@ -103210,16 +100634,15 @@ MONDO:0012897 "NCIT:C84705" MONDO:0012897 "Orphanet:329" MONDO:0012897 "DOID:2229" MONDO:0012897 "MESH:D005173" -MONDO:0012897 "ICD10:D68.1" MONDO:0012897 "OMIM:612416" MONDO:0013843 "OMIM:614665" MONDO:0013843 "SCTID:733447005" MONDO:0013843 "ICD9:777.1" -MONDO:0013843 "ICD10:P76.0" +MONDO:0013843 "ICD10CM:P76.0" MONDO:0013843 "Orphanet:314376" MONDO:0015087 "UMLS:CN226593" -MONDO:0015087 "ICD10:G11.4" MONDO:0015087 "Orphanet:100979" +MONDO:0015087 "ICD10CM:G11.4" MONDO:0016033 "OMIM:300590" MONDO:0016033 "OMIM:122470" MONDO:0016033 "NCIT:C75016" @@ -103232,24 +100655,23 @@ MONDO:0016033 "UMLS:CN239271" MONDO:0016033 "OMIM:610759" MONDO:0016033 "UMLS:C0270972" MONDO:0016033 "OMIM:300882" -MONDO:0016033 "ICD10:Q87.1" +MONDO:0016033 "ICD10CM:Q87.1" MONDO:0016033 "DOID:11725" MONDO:0016033 "OMIM:614701" +MONDO:0018486 "ICD10CM:H53.8" MONDO:0018486 "Orphanet:420556" MONDO:0018486 "GARD:0012062" -MONDO:0018486 "ICD10:H53.8" MONDO:0018486 "UMLS:CN237477" MONDO:0010516 "UMLS:C4310810" MONDO:0010516 "OMIM:300990" +MONDO:0019817 "ICD10CM:Q23.2" +MONDO:0019817 "ICD10CM:Q23" +MONDO:0019817 "ICD10CM:Q23.3" MONDO:0019817 "Orphanet:95464" -MONDO:0019817 "ICD10:Q23.3" -MONDO:0019817 "ICD10:Q23" -MONDO:0019817 "ICD10:Q23.2" MONDO:0017116 "Orphanet:269505" -MONDO:0017116 "ICD10:Q03.8" +MONDO:0017116 "ICD10CM:Q03.8" HP:0002584 "UMLS:C0267373" HP:0002584 "SNOMEDCT_US:712510007" -MONDO:0011547 "ICD10:Q12.0" MONDO:0011547 "DOID:0110265" MONDO:0011547 "Orphanet:98993" MONDO:0011547 "OMIM:605387" @@ -103263,8 +100685,8 @@ HP:0000819 "UMLS:C0011849" HP:0000819 "SNOMEDCT_US:73211009" MONDO:0021309 "NCIT:C3553" MONDO:0021309 "SCTID:372097009" +MONDO:0021309 "ICD10CM:C53.0" MONDO:0021309 "ICD9:180.0" -MONDO:0021309 "ICD10:C53.0" HP:0012210 "SNOMEDCT_US:44513007" HP:0012210 "UMLS:C0266292" HP:0012210 "Fyler:4512" @@ -103276,22 +100698,20 @@ MONDO:0015274 "EFO:0007168" MONDO:0015274 "MESH:D001607" MONDO:0015274 "SCTID:18121009" MONDO:0015274 "MedDRA:10004485" -MONDO:0015274 "ICD10:J63.2" -MONDO:0017474 "ICD10:Q74.0" MONDO:0017474 "Orphanet:295044" MONDO:0017474 "SCTID:297195000" MONDO:0017474 "MESH:C537720" +MONDO:0017474 "ICD10CM:Q74.0" MONDO:0017474 "HP:0100746" MONDO:0017474 "GARD:0008529" MONDO:0008312 "OMIM:176700" MONDO:0008312 "Orphanet:2964" -MONDO:0008312 "ICD10:K07.1" MONDO:0008312 "GARD:0010319" MONDO:0008312 "UMLS:CN203311" MONDO:0008312 "MESH:D008313" MONDO:0013479 "Orphanet:154" MONDO:0013479 "DOID:0110448" -MONDO:0013479 "ICD10:I42.0" +MONDO:0013479 "ICD10CM:I42.0" MONDO:0013479 "UMLS:C3151293" MONDO:0013479 "OMIM:613881" MONDO:0044329 "OMIM:617952" @@ -103308,9 +100728,9 @@ MONDO:0007115 "GARD:0010189" MONDO:0007115 "MESH:C536365" MONDO:0007115 "UMLS:C1970130" MONDO:0007115 "OMIM:106050" -MONDO:0003398 "ICD10:R41.1" MONDO:0003398 "DOID:5340" MONDO:0003398 "MESH:D020324" +MONDO:0003398 "ICD10CM:R41.1" MONDO:0002144 "SCTID:35885006" MONDO:0002144 "EFO:0009104" MONDO:0002144 "NCIT:C3961" @@ -103326,18 +100746,17 @@ MONDO:0010952 "UMLS:C1833213" MONDO:0010952 "DOID:0111256" MONDO:0010952 "ICD9:289.89" MONDO:0010952 "OMIM:600886" -MONDO:0010952 "ICD10:H26.0" +MONDO:0010952 "ICD10CM:H26.0" MONDO:0010952 "ICD9:366.44" MONDO:0009417 "MESH:C543092" MONDO:0009417 "Orphanet:2410" -MONDO:0009417 "ICD10:E29.1" MONDO:0009417 "UMLS:C1855859" MONDO:0009417 "SCTID:721233005" MONDO:0009417 "OMIM:240950" +MONDO:0009417 "ICD10CM:E29.1" MONDO:0009417 "GARD:0000298" HP:0001423 "UMLS:C1847879" MONDO:0018876 "DOID:0050746" -MONDO:0018876 "ICD10:C83.1" MONDO:0018876 "ICD9:200.40" MONDO:0018876 "MedDRA:10061275" MONDO:0018876 "SCTID:443487006" @@ -103348,7 +100767,6 @@ MONDO:0018876 "ICDO:9673/3" MONDO:0018876 "ONCOTREE:MCL" MONDO:0018876 "EFO:1001469" MONDO:0018876 "GARD:0006969" -MONDO:0009096 "ICD10:E75.2" MONDO:0009096 "SCTID:702427005" MONDO:0009096 "GARD:0010981" MONDO:0009096 "ICD9:323.81" @@ -103356,6 +100774,7 @@ MONDO:0009096 "DOID:0080523" MONDO:0009096 "MESH:C580150" MONDO:0009096 "NCIT:C153289" MONDO:0009096 "UMLS:C3711381" +MONDO:0009096 "ICD10CM:E75.2" MONDO:0009096 "OMIM:221820" MONDO:0009096 "Orphanet:313808" MONDO:0023018 "GARD:0001983" @@ -103378,8 +100797,8 @@ MONDO:0011319 "OMIM:603416" MONDO:0016723 "GARD:0008207" MONDO:0016723 "UMLS:C0917890" MONDO:0016723 "MedDRA:10035059" -MONDO:0016723 "ICD10:D44.5" MONDO:0016723 "NCIT:C6966" +MONDO:0016723 "ICD10CM:D44.5" MONDO:0016723 "HP:0030407" MONDO:0016723 "Orphanet:251912" MONDO:0016723 "SCTID:255045009" @@ -103389,10 +100808,10 @@ MONDO:0016723 "ONCOTREE:PINC" MONDO:0014718 "UMLS:C4225257" MONDO:0014718 "OMIM:616645" MONDO:0014718 "DOID:0080460" -MONDO:0020386 "ICD10:Q21.3" -MONDO:0020386 "ICD10:Q20.1" +MONDO:0020386 "ICD10CM:Q20.1" MONDO:0020386 "Orphanet:99043" MONDO:0020386 "SCTID:253298003" +MONDO:0020386 "ICD10CM:Q21.3" MONDO:0010497 "OMIM:300958" MONDO:0010497 "GARD:0012715" MONDO:0010497 "NCIT:C129931" @@ -103402,7 +100821,7 @@ MONDO:0024459 "UMLS:C2960005" MONDO:0024459 "ICD9:008.47" MONDO:0009283 "MESH:C562818" MONDO:0009283 "SCTID:238070003" -MONDO:0009283 "ICD10:E72.3" +MONDO:0009283 "ICD10CM:E72.3" MONDO:0009283 "UMLS:C0342873" MONDO:0009283 "GARD:0012469" MONDO:0009283 "OMIM:231690" @@ -103416,8 +100835,8 @@ MONDO:0020562 "MESH:D008080" MONDO:0020562 "NCIT:C3705" MONDO:0020562 "EFO:0003083" MONDO:0020562 "ICD9:171.9" -MONDO:0020562 "ICD10:C49.9" MONDO:0020562 "ONCOTREE:PLLS" +MONDO:0020562 "ICD10CM:C49.9" MONDO:0020562 "DOID:5702" MONDO:0006407 "EFO:1000521" MONDO:0006407 "UMLS:C0334513" @@ -103432,14 +100851,12 @@ MONDO:0008086 "DOID:0070152" MONDO:0008086 "Orphanet:36386" MONDO:0006774 "MedDRA:10062935" MONDO:0006774 "EFO:1000954" -MONDO:0006774 "ICD10:N96" MONDO:0006774 "MESH:D000026" MONDO:0006774 "SCTID:102878001" MONDO:0005520 "OMIM:600081" MONDO:0005520 "OMIM:264700" MONDO:0005520 "DOID:10609" MONDO:0005520 "OMIM:600785" -MONDO:0005520 "ICD10:E55.0" MONDO:0005520 "SCTID:41345002" MONDO:0005520 "GARD:0005700" MONDO:0005520 "MESH:D012279" @@ -103457,7 +100874,6 @@ MONDO:0007285 "UMLS:C1861828" MONDO:0007285 "OMIM:116200" MONDO:0007285 "DOID:0110231" MONDO:0007285 "Orphanet:91492" -MONDO:0007285 "ICD10:Q12.0" MONDO:0007285 "MESH:C566158" MONDO:0007285 "Orphanet:98984" MONDO:0007285 "Orphanet:1377" @@ -103465,18 +100881,14 @@ MONDO:0005669 "UMLS:C0153249" MONDO:0005669 "MESH:D010854" MONDO:0005669 "SCTID:402135006" MONDO:0005669 "SCTID:33666009" -MONDO:0005669 "ICD10:B36.3" +MONDO:0005669 "ICD10CM:B36.3" MONDO:0005669 "EFO:0007171" MONDO:0005669 "UMLS:C0031898" MONDO:0005669 "ICD9:111.3" MONDO:0005669 "DOID:12711" MONDO:0001249 "UMLS:C0040592" -MONDO:0001249 "ICD10:A71.9" -MONDO:0001249 "ICD10:A71" -MONDO:0001249 "ICD10:A71.0" MONDO:0001249 "ICD9:076" MONDO:0001249 "SCTID:2576002" -MONDO:0001249 "ICD10:A71.1" MONDO:0001249 "GARD:0010374" MONDO:0001249 "MESH:D014141" MONDO:0001249 "DOID:11265" @@ -103491,8 +100903,8 @@ MONDO:0007848 "OMIM:148190" MONDO:0007848 "UMLS:CN068649" MONDO:0007848 "GARD:0003089" MONDO:0007848 "UMLS:C1835698" -MONDO:0007848 "ICD10:H16.8" MONDO:0007848 "UMLS:C4017065" +MONDO:0007848 "ICD10CM:H16.8" MONDO:0007848 "DOID:0111383" MONDO:0007848 "MESH:C537022" MONDO:0007848 "SCTID:715339004" @@ -103501,13 +100913,13 @@ MONDO:0030938 "OMIM:619202" MONDO:0010108 "SCTID:713577007" MONDO:0010108 "EFO:1000566" MONDO:0010108 "Orphanet:99865" -MONDO:0010108 "ICD10:C62.1" MONDO:0010108 "OMIM:273300" +MONDO:0010108 "ICD10CM:C62.1" MONDO:0010108 "GARD:0013047" MONDO:0010108 "Orphanet:842" MONDO:0010108 "Orphanet:363494" -MONDO:0010108 "ICD9:239.5" MONDO:0010108 "MESH:C563236" +MONDO:0010108 "ICD9:239.5" MONDO:0010108 "OMIM:300228" MONDO:0010108 "Orphanet:363504" MONDO:0010108 "UMLS:C0334517" @@ -103524,12 +100936,12 @@ MONDO:0043314 "SCTID:240417004" MONDO:0006273 "UMLS:C1708749" MONDO:0006273 "EFO:1000329" MONDO:0006273 "NCIT:C45203" +MONDO:0014028 "ICD10CM:Q68.8" MONDO:0014028 "GARD:0013059" MONDO:0014028 "UMLS:C3554415" MONDO:0014028 "DOID:0111594" MONDO:0014028 "Orphanet:329457" MONDO:0014028 "OMIM:615065" -MONDO:0014028 "ICD10:Q68.8" MONDO:0003764 "NCIT:C5318" MONDO:0003764 "UMLS:C1332976" MONDO:0003764 "DOID:6089" @@ -103541,7 +100953,6 @@ MONDO:0014395 "Orphanet:275872" MONDO:0013141 "UMLS:C2751259" MONDO:0013141 "MESH:C567747" MONDO:0013141 "DOID:0090102" -MONDO:0013141 "ICD10:D69.4" MONDO:0013141 "OMIM:613112" MONDO:0013141 "Orphanet:140957" HP:0008669 "UMLS:C4020789" @@ -103551,14 +100962,13 @@ MONDO:0030069 "OMIM:618944" MONDO:0006156 "UMLS:C3272791" MONDO:0006156 "NCIT:C96464" MONDO:0006156 "EFO:1000189" -MONDO:0013269 "ICD10:H90.3" MONDO:0013269 "UMLS:C3150704" MONDO:0013269 "DOID:0110536" MONDO:0013269 "OMIM:613453" MONDO:0015124 "Orphanet:101954" MONDO:0008890 "MESH:D010244" MONDO:0008890 "SCTID:54304004" -MONDO:0008890 "ICD10:G12.22" +MONDO:0008890 "ICD10CM:G12.22" MONDO:0008890 "Orphanet:56965" MONDO:0008890 "GARD:0010928" MONDO:0008890 "EFO:0003783" @@ -103570,9 +100980,9 @@ MONDO:0008890 "UMLS:C0030442" MONDO:0031011 "OMIM:619264" MONDO:0012246 "SCTID:718769009" MONDO:0012246 "MESH:C537203" +MONDO:0012246 "ICD10CM:G11.2" MONDO:0012246 "DOID:0050975" MONDO:0012246 "UMLS:C1836395" -MONDO:0012246 "ICD10:G11.2" MONDO:0012246 "OMIM:609306" MONDO:0012246 "Orphanet:101112" MONDO:0012246 "GARD:0009995" @@ -103582,7 +100992,7 @@ MONDO:0009532 "GARD:0003669" MONDO:0009532 "NCIT:C124852" MONDO:0009532 "UMLS:C0265219" MONDO:0009532 "Orphanet:531" -MONDO:0009532 "ICD10:Q04.3" +MONDO:0009532 "ICD10CM:Q04.3" MONDO:0009532 "OMIM:247200" MONDO:0009532 "MedDRA:10068361" MONDO:0009532 "ICD9:758.33" @@ -103593,7 +101003,6 @@ MONDO:0005112 "DOID:7474" MONDO:0005112 "UMLS:C0812413" MONDO:0005112 "SCTID:254645002" MONDO:0005112 "NCIT:C7376" -MONDO:0005112 "ICD10:C45.0" MONDO:0005112 "EFO:0000770" MONDO:0014582 "Orphanet:590" MONDO:0014582 "DOID:0110680" @@ -103614,17 +101023,8 @@ MONDO:0000834 "DOID:0080007" MONDO:0011900 "UMLS:C1843180" MONDO:0011900 "Orphanet:79152" MONDO:0011900 "OMIM:607728" -MONDO:0019683 "GARD:0005087" -MONDO:0019683 "MESH:C538153" -MONDO:0019683 "OMIM:186000" -MONDO:0019683 "OMIM:608180" -MONDO:0019683 "ICD10:Q70.0" -MONDO:0019683 "OMIM:610234" -MONDO:0019683 "SCTID:715724002" -MONDO:0019683 "Orphanet:93403" -MONDO:0019683 "ICD10:Q70.2" -MONDO:0011487 "ICD10:G10" MONDO:0011487 "OMIM:604802" +MONDO:0011487 "ICD10CM:G10" MONDO:0011487 "Orphanet:157946" MONDO:0011487 "UMLS:C1858114" MONDO:0011487 "MESH:C565747" @@ -103642,9 +101042,9 @@ MONDO:0020620 "OMIM:111740" MONDO:0054806 "UMLS:CN244932" MONDO:0054806 "OMIM:617985" MONDO:0013687 "DOID:0080060" +MONDO:0013687 "ICD10CM:G11.1" MONDO:0013687 "UMLS:C3280452" MONDO:0013687 "OMIM:614322" -MONDO:0013687 "ICD10:G11.1" MONDO:0013687 "Orphanet:284282" MONDO:0008961 "UMLS:C1859198" MONDO:0008961 "Orphanet:99948" @@ -103653,7 +101053,7 @@ MONDO:0008961 "GARD:0001252" MONDO:0008961 "DOID:0110185" MONDO:0008961 "OMIM:214400" MONDO:0008961 "SCTID:715796006" -MONDO:0008961 "ICD10:G60.0" +MONDO:0008961 "ICD10CM:G60.0" MONDO:0006963 "SCTID:92337009" MONDO:0006963 "UMLS:C0036503" MONDO:0006963 "ICD9:239.2" @@ -103664,7 +101064,6 @@ MONDO:0006963 "UMLS:C3805742" MONDO:0006963 "SCTID:126491004" MONDO:0006963 "NCIT:C3363" MONDO:0032902 "OMIM:618763" -MONDO:0010085 "ICD10:G37.0" MONDO:0010085 "ICD9:341.1" MONDO:0010085 "UMLS:C0007795" MONDO:0010085 "SCTID:49692006" @@ -103672,18 +101071,18 @@ MONDO:0010085 "Orphanet:59298" MONDO:0010085 "OMIM:272100" MONDO:0020236 "Orphanet:98653" MONDO:0020236 "NCIT:C125484" +MONDO:0020236 "ICD10CM:Q12.1" MONDO:0020236 "HP:0001083" -MONDO:0020236 "ICD10:Q12.1" MONDO:0004595 "SCTID:67189007" MONDO:0004595 "DOID:8514" MONDO:0004595 "UMLS:C0155671" MONDO:0004595 "ICD9:415" -MONDO:0016502 "ICD10:E70.3" MONDO:0016502 "OMIM:614072" MONDO:0016502 "OMIM:614074" MONDO:0016502 "OMIM:614075" MONDO:0016502 "Orphanet:231512" MONDO:0016502 "UMLS:CN201507" +MONDO:0016502 "ICD10CM:E70.3" MONDO:0020165 "Orphanet:98574" MONDO:0020165 "UMLS:CN227805" CL:1000415 "FMA:67780" @@ -103705,22 +101104,23 @@ MONDO:0002480 "UMLS:C0474809" MONDO:0014174 "UMLS:C3809434" MONDO:0014174 "OMIM:615415" MONDO:0014174 "Orphanet:294415" -MONDO:0020423 "ICD10:Q24.5" +MONDO:0020423 "ICD10CM:Q24.5" MONDO:0020423 "Orphanet:99087" +MONDO:0004782 "ICD10CM:E23.2" MONDO:0004782 "UMLS:C0011848" MONDO:0004782 "NCIT:C43263" -MONDO:0004782 "ICD10:E23.2" MONDO:0004782 "GARD:0011934" MONDO:0004782 "DOID:9409" MONDO:0004782 "SCTID:15771004" MONDO:0004782 "ICD9:253.5" MONDO:0004782 "MESH:D003919" MONDO:0018056 "Orphanet:33408" +MONDO:0018056 "ICD10CM:L43.1" MONDO:0018056 "MedDRA:10056960" MONDO:0018056 "NCIT:C34778" -MONDO:0018056 "ICD10:L43.1" MONDO:0018056 "UMLS:C0023648" MONDO:0018056 "SCTID:6111009" +NCBITaxon:6201 "GC_ID:1" MONDO:0018699 "Orphanet:457059" MONDO:0012539 "UMLS:C1853153" MONDO:0012539 "DOID:0111001" @@ -103730,22 +101130,20 @@ MONDO:0012539 "MESH:C537689" MONDO:0005177 "NCIT:C3783" MONDO:0005177 "ICDO:8441/0" MONDO:0005177 "EFO:0002504" -NCBITaxon:6201 "GC_ID:1" MONDO:0016118 "Orphanet:206959" -MONDO:0016118 "ICD10:E74.0" +MONDO:0016118 "ICD10CM:E74.0" MONDO:0017943 "Orphanet:324636" MONDO:0017943 "MESH:C535645" -MONDO:0017943 "ICD10:D69.2" MONDO:0017943 "UMLS:C0301928" MONDO:0017943 "GARD:0006481" MONDO:0017943 "SCTID:275446004" MONDO:0017943 "ICD9:287.2" +MONDO:0017943 "ICD10CM:D69.2" MONDO:0005834 "MESH:D008219" MONDO:0005834 "SCTID:186946009" MONDO:0005834 "UMLS:C0024286" MONDO:0005834 "EFO:0007353" MONDO:0005834 "DOID:13819" -MONDO:0005834 "ICD10:A55" MONDO:0005834 "ICD9:099.1" MONDO:0005834 "NCIT:C26822" MONDO:0005834 "GARD:0009545" @@ -103756,7 +101154,6 @@ MONDO:0021583 "NCIT:C7161" MONDO:0001414 "ICD9:756.53" MONDO:0001414 "SCTID:9147009" MONDO:0001414 "MESH:D010023" -MONDO:0001414 "ICD10:Q78.8" MONDO:0001414 "GARD:0004158" MONDO:0001414 "DOID:11991" MONDO:0001414 "NCIT:C84985" @@ -103771,16 +101168,16 @@ MONDO:0012702 "OMIM:611598" MONDO:0017297 "GARD:0010779" MONDO:0017297 "Orphanet:284448" MONDO:0017297 "UMLS:C3854437" -MONDO:0008482 "OMIM:184400" MONDO:0008482 "Orphanet:3181" +MONDO:0008482 "OMIM:184400" MONDO:0008482 "MESH:C535802" -MONDO:0008482 "ICD10:Q74.0" MONDO:0008482 "MedDRA:10010455" +MONDO:0008482 "ICD10CM:Q74.0" MONDO:0008482 "HP:0000912" MONDO:0008482 "GARD:0007693" MONDO:0008482 "SCTID:79120002" +MONDO:0015985 "ICD10CM:Q78.4" MONDO:0015985 "GARD:0000920" -MONDO:0015985 "ICD10:Q78.4" MONDO:0015985 "SCTID:720566004" MONDO:0015985 "UMLS:C4303993" MONDO:0015985 "Orphanet:1844" @@ -103791,18 +101188,17 @@ MONDO:0005364 "GARD:0006549" MONDO:0005364 "EFO:0004237" MONDO:0005364 "DOID:10719" MONDO:0005364 "ICD9:242.0" -MONDO:0005364 "ICD10:E05.0" MONDO:0005364 "NCIT:C3071" MONDO:0005364 "DOID:12361" MONDO:0005364 "MESH:D006111" MONDO:0005364 "OMIM:603388" MONDO:0005364 "SCTID:353295004" MONDO:0017559 "Orphanet:295227" -MONDO:0017559 "ICD10:Q68.8" +MONDO:0017559 "ICD10CM:Q68.8" MONDO:0016931 "Orphanet:262648" MONDO:0016931 "SCTID:726349006" MONDO:0019115 "UMLS:C4273958" -MONDO:0019115 "ICD10:E66.8" +MONDO:0019115 "ICD10CM:E66.8" MONDO:0019115 "NCIT:C120394" MONDO:0019115 "SCTID:717269008" MONDO:0019115 "OMIM:601665" @@ -103812,28 +101208,26 @@ MONDO:0009955 "OMIM:266280" MONDO:0009955 "Orphanet:3021" MONDO:0009955 "MESH:C535288" MONDO:0009955 "SCTID:702413000" -MONDO:0009955 "ICD10:Q87.1" MONDO:0009955 "UMLS:C1849453" MONDO:0009955 "GARD:0004637" MONDO:0009955 "DOID:0050774" -MONDO:0001772 "ICD9:569.41" -MONDO:0001772 "ICD10:K62.6" +MONDO:0009955 "ICD10CM:Q87.1" MONDO:0001772 "DOID:13662" +MONDO:0001772 "ICD10CM:K62.6" +MONDO:0001772 "ICD9:569.41" +MONDO:0013119 "MESH:C567543" +MONDO:0013119 "DOID:0110525" +MONDO:0013119 "OMIM:613079" +MONDO:0013119 "UMLS:C2746083" MONDO:0008740 "SCTID:48180002" MONDO:0008740 "NCIT:C124568" MONDO:0008740 "ICD9:759.89" MONDO:0008740 "Orphanet:990" -MONDO:0008740 "ICD10:Q87.8" -MONDO:0008740 "ICD10:Q18.2" +MONDO:0008740 "ICD10CM:Q87.8" MONDO:0008740 "DOID:0060341" MONDO:0008740 "OMIM:202650" MONDO:0008740 "GARD:0009126" MONDO:0008740 "UMLS:CN207252" -MONDO:0013119 "MESH:C567543" -MONDO:0013119 "DOID:0110525" -MONDO:0013119 "OMIM:613079" -MONDO:0013119 "ICD10:H90.3" -MONDO:0013119 "UMLS:C2746083" MONDO:0002855 "DOID:4055" MONDO:0002855 "ICDO:8921/3" MONDO:0002855 "NCIT:C4716" @@ -103841,8 +101235,8 @@ MONDO:0002855 "GARD:0012279" MONDO:0002855 "UMLS:C0431111" MONDO:0001601 "SCTID:19341001" MONDO:0001601 "UMLS:C0152072" +MONDO:0001601 "ICD10CM:B53.0" MONDO:0001601 "ICD9:084.3" -MONDO:0001601 "ICD10:B53.0" MONDO:0001601 "DOID:12919" MONDO:0007367 "ICD9:780.39" MONDO:0007367 "UMLS:C1852577" @@ -103858,24 +101252,23 @@ MONDO:0007543 "OMIM:131375" MONDO:0011959 "Orphanet:3243" MONDO:0011959 "NCIT:C85177" MONDO:0011959 "ICD9:702.8" -MONDO:0011959 "ICD10:L98.2" MONDO:0011959 "MESH:D016463" MONDO:0011959 "MedDRA:10000748" MONDO:0011959 "SCTID:84625002" MONDO:0011959 "OMIM:608068" MONDO:0011959 "GARD:0000521" MONDO:0011959 "UMLS:C0085077" -MONDO:0012905 "ICD10:E75.2" MONDO:0012905 "MESH:C567314" MONDO:0012905 "OMIM:612438" MONDO:0012905 "DOID:0060798" +MONDO:0012905 "ICD10CM:E75.2" MONDO:0012905 "GARD:0010917" MONDO:0012905 "Orphanet:139441" MONDO:0012905 "UMLS:C2676244" MONDO:0011079 "OMIM:601438" MONDO:0011079 "Orphanet:2831" MONDO:0011079 "SCTID:715505002" -MONDO:0011079 "ICD10:Q78.8" +MONDO:0011079 "ICD10CM:Q78.8" MONDO:0011079 "MESH:C537609" MONDO:0011079 "GARD:0004703" MONDO:0011079 "UMLS:C1832359" @@ -103884,8 +101277,8 @@ MONDO:0012411 "DOID:0090069" MONDO:0012411 "OMIM:610100" MONDO:0012411 "Orphanet:401964" MONDO:0012411 "UMLS:CN226146" -MONDO:0012411 "ICD10:G60.0" MONDO:0012411 "UMLS:C1864695" +MONDO:0012411 "ICD10CM:G60.0" MONDO:0012411 "GARD:0012447" MONDO:0005585 "EFO:0005942" MONDO:0002354 "DOID:2598" @@ -103903,8 +101296,8 @@ MONDO:0006096 "ICD9:621.33" MONDO:0006096 "UMLS:C0349579" MONDO:0004784 "UMLS:C0155877" MONDO:0004784 "DOID:9415" -MONDO:0004784 "ICD10:J45" MONDO:0004784 "ICD9:493.0" +MONDO:0004784 "ICD10CM:J45" MONDO:0004784 "SCTID:389145006" MONDO:0043087 "MESH:C536511" MONDO:0043087 "UMLS:C2931222" @@ -103914,10 +101307,10 @@ MONDO:0018746 "MedDRA:10057052" MONDO:0018746 "EFO:1000680" MONDO:0018746 "SCTID:76092003" MONDO:0018746 "Orphanet:46486" -MONDO:0018746 "ICD10:L12.1" MONDO:0018746 "ICD9:694.61" MONDO:0018746 "DOID:11656" MONDO:0018746 "NCIT:C34907" +MONDO:0018746 "ICD10CM:L12.1" MONDO:0018746 "GARD:0005913" MONDO:0018746 "OMIM:164185" MONDO:0005730 "UMLS:C0012118" @@ -103929,8 +101322,6 @@ MONDO:0003587 "DOID:5695" MONDO:0024531 "UMLS:C4011726" MONDO:0024531 "OMIM:160565" MONDO:0024531 "Orphanet:2593" -HP:0002257 "UMLS:C0008711" -HP:0002257 "SNOMEDCT_US:86094006" HP:0009763 "UMLS:C0030196" HP:0009763 "SNOMEDCT_US:90834002" MONDO:0003470 "MESH:D004806" @@ -103938,17 +101329,19 @@ MONDO:0003470 "DOID:5500" MONDO:0003470 "NCIT:C4713" MONDO:0003470 "NCIT:C4714" MONDO:0003470 "UMLS:C1384403" +HP:0002257 "UMLS:C0008711" +HP:0002257 "SNOMEDCT_US:86094006" MONDO:0013852 "UMLS:C3553442" MONDO:0013852 "OMIM:614676" MONDO:0013852 "DOID:0110311" NCBITaxon:88456 "GC_ID:1" NCBITaxon:46683 "GC_ID:1" +MONDO:0001595 "ICD10CM:G25.5" MONDO:0001595 "MESH:D002819" MONDO:0001595 "EFO:0004152" MONDO:0001595 "NCIT:C84633" MONDO:0001595 "UMLS:C1859098" MONDO:0001595 "OMIM:215450" -MONDO:0001595 "ICD10:G25.5" MONDO:0001595 "ICD9:333.5" MONDO:0001595 "SCTID:230306001" MONDO:0001595 "HP:0002072" @@ -103965,17 +101358,16 @@ MONDO:0002237 "SCTID:416893007" MONDO:0002237 "UMLS:C0007078" MONDO:0003795 "DOID:6179" MONDO:0003795 "EFO:1000431" +MONDO:0003795 "ICD10CM:C56" MONDO:0003795 "Orphanet:370396" MONDO:0003795 "UMLS:C2212006" MONDO:0003795 "NCIT:C27390" MONDO:0003795 "GARD:0010411" MONDO:0003795 "ONCOTREE:SCCO" -MONDO:0003795 "ICD10:C56" MONDO:0020238 "Orphanet:98657" MONDO:0020238 "UMLS:CN207063" MONDO:0015881 "UMLS:CN200488" MONDO:0015881 "Orphanet:180821" -NCBITaxon:11083 "GC_ID:1" MONDO:0004971 "UMLS:C0010606" MONDO:0004971 "MESH:D003528" MONDO:0004971 "DOID:0080202" @@ -103985,7 +101377,8 @@ MONDO:0004971 "EFO:0000231" MONDO:0004971 "GARD:0005743" MONDO:0004971 "NCIT:C2970" MONDO:0017108 "Orphanet:269206" -MONDO:0017108 "ICD10:Q04.3" +MONDO:0017108 "ICD10CM:Q04.3" +NCBITaxon:11083 "GC_ID:1" MONDO:0032870 "OMIM:618687" MONDO:0032870 "DOID:0111674" MONDO:0005613 "EFO:0006719" @@ -103999,27 +101392,27 @@ MONDO:0001017 "DOID:10368" MONDO:0001017 "UMLS:C1510784" MONDO:0020015 "UMLS:CN206948" MONDO:0020015 "Orphanet:98028" +MONDO:0013781 "ICD10CM:I15.1" MONDO:0013781 "Orphanet:757" -MONDO:0013781 "ICD10:I15.1" MONDO:0013781 "OMIM:614495" MONDO:0013781 "Orphanet:300525" MONDO:0013781 "UMLS:C3469605" +MONDO:0019488 "ICD10CM:G40.4" MONDO:0019488 "Orphanet:86913" -MONDO:0019488 "ICD10:G40.4" -MONDO:0044211 "ICD10:L50.1" MONDO:0044211 "UMLS:C0157741" MONDO:0044211 "ICD9:708.1" +MONDO:0044211 "ICD10CM:L50.1" MONDO:0044211 "SCTID:42265009" MONDO:0025113 "UMLS:C0032851" MONDO:0025113 "MESH:D011201" MONDO:0000455 "GARD:0011897" MONDO:0000455 "Orphanet:1871" MONDO:0000455 "ICD9:362.75" +MONDO:0000455 "ICD10CM:H35.5" MONDO:0000455 "OMIM:304030" MONDO:0000455 "OMIM:602093" MONDO:0000455 "DOID:0050795" MONDO:0000455 "OMIM:300085" -MONDO:0000455 "ICD10:H35.5" MONDO:0000455 "UMLS:C0730290" MONDO:0000455 "OMIM:180020" MONDO:0000455 "SCTID:312917007" @@ -104027,11 +101420,11 @@ MONDO:0000455 "OMIM:613093" MONDO:0006358 "NCIT:C5942" MONDO:0006358 "UMLS:C1335367" MONDO:0006358 "EFO:1000463" -MONDO:0018150 "ICD10:E75.2" MONDO:0018150 "OMIM:608013" MONDO:0018150 "OMIM:610539" MONDO:0018150 "GARD:0008233" MONDO:0018150 "OMIM:231005" +MONDO:0018150 "ICD10CM:E75.2" MONDO:0018150 "OMIM:231000" MONDO:0018150 "MedDRA:10018048" MONDO:0018150 "MESH:D005776" @@ -104041,12 +101434,12 @@ MONDO:0018150 "OMIM:230900" MONDO:0018150 "DOID:1926" MONDO:0018150 "OMIM:230800" MONDO:0018150 "NCIT:C61268" -MONDO:0018150 "ICD10:E75.22" MONDO:0018150 "UMLS:C0017205" +MONDO:0018150 "ICD10CM:E75.22" MONDO:0020425 "Orphanet:99089" -MONDO:0020425 "ICD10:Q24.5" +MONDO:0020425 "ICD10CM:Q24.5" MONDO:0015764 "Orphanet:1724" -MONDO:0015764 "ICD10:Q92.1" +MONDO:0015764 "ICD10CM:Q92.1" MONDO:0009472 "OMIM:243400" HP:0012393 "SNOMEDCT_US:419076005" HP:0012393 "MSH:D006967" @@ -104068,10 +101461,10 @@ MONDO:0010946 "DOID:0110312" MONDO:0010946 "OMIM:600858" MONDO:0010946 "MESH:C563436" MONDO:0010946 "UMLS:C1833236" -MONDO:0010523 "ICD10:L99.0*" +MONDO:0010523 "ICD10EXP:L99.0*" +MONDO:0010523 "ICD10EXP:E85.0+" MONDO:0010523 "MESH:C564461" MONDO:0010523 "OMIM:301220" -MONDO:0010523 "ICD10:E85.0+" MONDO:0010523 "SCTID:717224002" MONDO:0010523 "Orphanet:85453" NCBITaxon:34487 "GC_ID:1" @@ -104081,11 +101474,10 @@ MONDO:0009088 "OMIM:221700" MONDO:0018221 "SCTID:15539009" MONDO:0018221 "UMLS:C0455990" MONDO:0018221 "NCIT:C111904" -MONDO:0018221 "ICD10:P56.0" MONDO:0018221 "Orphanet:364013" MONDO:0018221 "ICD9:773.3" +MONDO:0012704 "ICD10CM:I42.0" MONDO:0012704 "MESH:C566907" -MONDO:0012704 "ICD10:I42.0" MONDO:0012704 "UMLS:C1969024" MONDO:0012704 "Orphanet:154" MONDO:0012704 "DOID:0110444" @@ -104105,7 +101497,6 @@ MONDO:0006579 "SCTID:394727000" MONDO:0006579 "Wikipedia:Melanocanthoma" MONDO:0006579 "NCIT:C27548" MONDO:0006579 "DOID:11684" -MONDO:0004587 "ICD10:H53.63" MONDO:0004587 "SCTID:193687000" MONDO:0004587 "ICD9:368.61" MONDO:0004587 "DOID:8498" @@ -104119,12 +101510,12 @@ MONDO:0006416 "UMLS:C1335991" MONDO:0006416 "EFO:1000533" MONDO:0019896 "UMLS:C0795833" MONDO:0019896 "UMLS:CN206831" -MONDO:0019896 "ICD10:Q87.8" +MONDO:0019896 "ICD10CM:Q87.8" MONDO:0019896 "Orphanet:96147" +MONDO:0008343 "ICD10CM:Q25.5" MONDO:0008343 "Orphanet:1207" MONDO:0008343 "MESH:C562833" MONDO:0008343 "NCIT:C99033" -MONDO:0008343 "ICD10:Q25.5" MONDO:0008343 "OMIM:178370" MONDO:0008343 "SCTID:253591008" MONDO:0008343 "UMLS:C0344976" @@ -104141,11 +101532,11 @@ MONDO:0000863 "OMIM:500011" MONDO:0000863 "OMIM:600462" MONDO:0000863 "MESH:C536101" MONDO:0000863 "OMIM:613561" +MONDO:0000863 "ICD10CM:G71.3" MONDO:0000863 "Orphanet:2598" MONDO:0000863 "OMIMPS:600462" MONDO:0000863 "SCTID:724138007" MONDO:0000863 "DOID:0080099" -MONDO:0000863 "ICD10:G71.3" MONDO:0000863 "GARD:0003885" MONDO:0000863 "UMLS:CN220387" MONDO:0006766 "MESH:D020235" @@ -104165,15 +101556,14 @@ MONDO:0000004 "UMLS:C0405580" MONDO:0003227 "NCIT:C85031" MONDO:0003227 "DOID:4970" MONDO:0003227 "HP:0010528" -MONDO:0003227 "ICD10:R48.3" MONDO:0015313 "UMLS:CN199281" -MONDO:0015313 "ICD10:Q30.0" +MONDO:0015313 "ICD10CM:Q30.0" MONDO:0015313 "Orphanet:137920" MONDO:0007818 "DOID:3261" MONDO:0007818 "OMIM:146840" MONDO:0007818 "MESH:C564135" MONDO:0007818 "Orphanet:2314" -MONDO:0007818 "ICD10:D82.4" +MONDO:0007818 "ICD10CM:D82.4" MONDO:0007818 "SCTID:50926003" MONDO:0007818 "UMLS:C1840265" MONDO:0007818 "GARD:0006800" @@ -104182,8 +101572,8 @@ MONDO:0007818 "NCIT:C126342" MONDO:0007818 "OMIM:147060" MONDO:0007818 "MESH:C567925" MONDO:0017513 "Orphanet:295124" -MONDO:0017513 "ICD10:Q72.7" -MONDO:0007020 "ICD10:E51.2" +MONDO:0017513 "ICD10CM:Q72.7" +MONDO:0007020 "ICD10CM:E51.2" MONDO:0007020 "ICD9:265.1" MONDO:0007020 "UMLS:C0043121" MONDO:0007020 "SCTID:21007002" @@ -104196,7 +101586,7 @@ MONDO:0006603 "DOID:2053" MONDO:0006603 "EFO:1000759" MONDO:0006603 "NCIT:C27549" MONDO:0020427 "SCTID:764955006" -MONDO:0020427 "ICD10:Q21.0" +MONDO:0020427 "ICD10CM:Q21.0" MONDO:0020427 "Orphanet:99094" MONDO:0020427 "UMLS:CN207292" MONDO:0014771 "DOID:0110995" @@ -104206,7 +101596,7 @@ MONDO:0001291 "SCTID:46963008" MONDO:0001291 "UMLS:C0009592" MONDO:0001291 "DOID:11457" MONDO:0001291 "ICD9:348.4" -MONDO:0001291 "ICD10:G93.5" +MONDO:0001291 "ICD10CM:G93.5" MONDO:0003829 "DOID:6257" MONDO:0003829 "UMLS:C1518879" MONDO:0003829 "NCIT:C3687" @@ -104253,24 +101643,24 @@ MONDO:0003960 "NCIT:C5672" MONDO:0003960 "UMLS:C1334363" MONDO:0003960 "NCIT:C6875" MONDO:0003960 "DOID:6658" -MONDO:0019317 "ICD10:L98.8" MONDO:0019317 "UMLS:CN205972" MONDO:0019317 "Orphanet:79459" +MONDO:0019317 "ICD10CM:L98.8" +MONDO:0018000 "ICD10CM:Q87.2" MONDO:0018000 "Orphanet:329319" MONDO:0018000 "UMLS:CN204208" -MONDO:0018000 "ICD10:Q87.2" MONDO:0031003 "OMIM:619256" MONDO:0011673 "MESH:C564706" MONDO:0011673 "OMIM:606451" MONDO:0011673 "DOID:0110560" MONDO:0011673 "Orphanet:90635" -MONDO:0011673 "ICD10:H90.3" MONDO:0011673 "UMLS:C1847972" CL:0002062 "FMA:62500" CL:0002062 "BTO:0000780" MONDO:0001666 "DOID:13227" MONDO:0001666 "ICD9:362.77" MONDO:0007569 "OMIM:132990" +MONDO:0007569 "ICD10CM:L49-L54" MONDO:0007569 "UMLS:C1851503" MONDO:0007569 "GARD:0009259" MONDO:0007569 "MESH:C535510" @@ -104290,7 +101680,7 @@ MONDO:0019349 "NCIT:C75019" MONDO:0019349 "MedDRA:10064387" MONDO:0019349 "GARD:0010091" MONDO:0019349 "OMIM:617169" -MONDO:0019349 "ICD10:Q87.3" +MONDO:0019349 "ICD10CM:Q87.3" MONDO:0019349 "DOID:14748" NCBITaxon:115425 "GC_ID:1" MONDO:0014987 "UMLS:C4310651" @@ -104333,31 +101723,31 @@ MONDO:0044875 "NCIT:C84478" MONDO:0021035 "OMIM:203650" MONDO:0021035 "UMLS:C1859878" MONDO:0021035 "DOID:0080628" -MONDO:0017444 "ICD10:Q72.2" MONDO:0017444 "Orphanet:294981" +MONDO:0017444 "ICD10CM:Q72.2" MONDO:0017444 "SCTID:278532000" MONDO:0015283 "UMLS:CN199218" MONDO:0015283 "Orphanet:1349" -MONDO:0015283 "ICD10:I42.8" +MONDO:0015283 "ICD10CM:I42.8" MONDO:0030486 "OMIM:619637" MONDO:0019746 "Orphanet:93613" +MONDO:0019746 "ICD10CM:E72.0" MONDO:0019746 "OMIM:220100" MONDO:0019746 "UMLS:C1857389" -MONDO:0019746 "ICD10:E72.0" MONDO:0015569 "Orphanet:162521" -MONDO:0015569 "ICD10:Q30.8" +MONDO:0015569 "ICD10CM:Q30.8" MONDO:0002153 "ICD9:704.02" MONDO:0002153 "SCTID:39479004" MONDO:0002153 "UMLS:C0263518" -MONDO:0002153 "ICD10:L65.0" MONDO:0002153 "NCIT:C112200" +MONDO:0002153 "ICD10CM:L65.0" MONDO:0002153 "DOID:1943" HP:0000842 "MSH:D006946" HP:0000842 "SNOMEDCT_US:83469008" HP:0000842 "UMLS:C0020459" -MONDO:0019194 "ICD10:E88.1" MONDO:0019194 "NCIT:C131814" MONDO:0019194 "GARD:0005867" +MONDO:0019194 "ICD10CM:E88.1" MONDO:0019194 "Orphanet:79088" MONDO:0019194 "UMLS:C4329999" MONDO:0019194 "UMLS:CN227583" @@ -104365,30 +101755,29 @@ MONDO:0001048 "NCIT:C3653" MONDO:0001048 "SCTID:72776003" MONDO:0001048 "UMLS:C0155262" MONDO:0001048 "ICD9:376.11" -MONDO:0001048 "ICD10:H05.11" MONDO:0001048 "DOID:10499" -MONDO:0017748 "ICD10:E77.8" MONDO:0017748 "UMLS:CN227194" MONDO:0017748 "Orphanet:309515" +MONDO:0017748 "ICD10CM:E77.8" MONDO:0005639 "EFO:0007137" MONDO:0005639 "UMLS:C0001857" MONDO:0005639 "MESH:D000386" -MONDO:0032746 "OMIM:618431" MONDO:0016685 "MedDRA:10065869" MONDO:0016685 "Orphanet:251592" +MONDO:0032746 "OMIM:618431" CL:0002166 "FMA:62987" MONDO:0027751 "Orphanet:250811" MONDO:0018885 "Orphanet:52994" MONDO:0018885 "SCTID:719045009" +MONDO:0018885 "ICD10CM:D31.6" MONDO:0018885 "UMLS:C4305000" -MONDO:0018885 "ICD10:D31.6" MONDO:0018885 "UMLS:CN205236" MONDO:0017631 "Orphanet:306633" MONDO:0017631 "UMLS:C0750952" MONDO:0012592 "Orphanet:216812" MONDO:0012592 "UMLS:C3151218" -MONDO:0012592 "ICD10:Q78.0" MONDO:0012592 "Orphanet:666" +MONDO:0012592 "ICD10CM:Q78.0" MONDO:0012592 "Orphanet:216820" MONDO:0012592 "GARD:0012875" MONDO:0012592 "OMIM:610968" @@ -104402,11 +101791,10 @@ MONDO:0014621 "OMIM:616399" MONDO:0014621 "DOID:0110226" MONDO:0014621 "Orphanet:130" MONDO:0014621 "UMLS:C4225340" -MONDO:0014621 "ICD10:I49.8" MONDO:0060765 "NCIT:C3337" MONDO:0019241 "UMLS:C0268517" MONDO:0019241 "Orphanet:79196" -MONDO:0019241 "ICD10:E72.8" +MONDO:0019241 "ICD10CM:E72.8" MONDO:0019241 "SCTID:9128006" MONDO:0005169 "UMLS:C1334640" MONDO:0005169 "ONCOTREE:MTNN" @@ -104415,7 +101803,6 @@ MONDO:0005169 "NCIT:C27909" MONDO:0000340 "DOID:0050514" MONDO:0005826 "DOID:3241" MONDO:0005826 "EFO:0007345" -MONDO:0005826 "ICD10:J69.1" MONDO:0005826 "MESH:D011017" MONDO:0005826 "UMLS:C0032298" MONDO:0005826 "SCTID:707449006" @@ -104442,7 +101829,6 @@ MONDO:0015977 "MESH:D000361" MONDO:0015977 "ICD9:279.00" MONDO:0015977 "GARD:0007455" MONDO:0015977 "Orphanet:183669" -MONDO:0015977 "ICD10:D80.1" MONDO:0015977 "OMIM:613502" MONDO:0015977 "OMIM:601495" MONDO:0015977 "MedDRA:10001471" @@ -104462,7 +101848,6 @@ MONDO:0001610 "ICD9:375.32" MONDO:0001610 "UMLS:C0155237" MONDO:0001610 "SCTID:25470000" MONDO:0001610 "DOID:12996" -MONDO:0001610 "ICD10:H04.32" MONDO:0007513 "UMLS:C1851850" MONDO:0007513 "Orphanet:3391" MONDO:0007513 "MESH:C538015" @@ -104473,13 +101858,13 @@ HP:0011030 "UMLS:C4023584" MONDO:0012914 "GARD:0010813" MONDO:0012914 "DOID:0060411" MONDO:0012914 "SCTID:699305004" -MONDO:0012914 "ICD10:Q93.5" -MONDO:0012914 "Orphanet:250989" MONDO:0012914 "OMIM:612474" +MONDO:0012914 "Orphanet:250989" MONDO:0012914 "ICD9:758.33" -MONDO:0020070 "ICD10:G40.4" +MONDO:0012914 "ICD10CM:Q93.5" MONDO:0020070 "UMLS:CN206974" MONDO:0020070 "Orphanet:98257" +MONDO:0020070 "ICD10CM:G40.4" MONDO:0004082 "DOID:7037" MONDO:0004082 "UMLS:C1332990" MONDO:0004082 "NCIT:C6547" @@ -104496,26 +101881,27 @@ MONDO:0006282 "EFO:1000339" MONDO:0008545 "UMLS:C1861232" MONDO:0008545 "MESH:C566065" MONDO:0008545 "OMIM:187550" -MONDO:0007871 "ICD10:Q10.5" MONDO:0007871 "OMIM:149700" MONDO:0007871 "MESH:C566703" MONDO:0007871 "Orphanet:141083" MONDO:0007871 "Orphanet:451612" +MONDO:0007871 "ICD10CM:Q10.5" MONDO:0012013 "OMIM:608328" MONDO:0012013 "UMLS:C0265313" +MONDO:0012013 "ICD10CM:Q87.1" MONDO:0012013 "SCTID:722450007" MONDO:0012013 "Orphanet:2084" -MONDO:0012013 "ICD10:Q87.1" MONDO:0012013 "Orphanet:3449" MONDO:0012013 "GARD:0002452" +MONDO:0016559 "ICD10CM:Q15.8" MONDO:0016559 "OMIM:251750" -MONDO:0016559 "ICD10:Q15.8" MONDO:0016559 "GARD:0010942" MONDO:0016559 "Orphanet:238763" MONDO:0016559 "UMLS:CN201642" MONDO:0013150 "UMLS:C2751067" MONDO:0013150 "SCTID:722763000" MONDO:0013150 "OMIMPS:613135" +MONDO:0013150 "OMIM:613135" MONDO:0013150 "MESH:C567730" MONDO:0013150 "NCIT:C129866" MONDO:0013150 "GARD:0010484" @@ -104525,7 +101911,7 @@ MONDO:0021811 "ICD9:993.2" MONDO:0021811 "UMLS:C0238284" MONDO:0021811 "GARD:0005730" MONDO:0019935 "Orphanet:96325" -MONDO:0019935 "ICD10:Q98.6" +MONDO:0019935 "ICD10CM:Q98.6" MONDO:0011099 "Orphanet:69737" MONDO:0011099 "UMLS:C1832215" MONDO:0011099 "OMIM:601536" @@ -104537,15 +101923,15 @@ MONDO:0012045 "OMIM:608474" MONDO:0012045 "MESH:C563922" MONDO:0012045 "UMLS:C1837972" MONDO:0011275 "SCTID:718559000" +MONDO:0011275 "ICD10CM:Q77.8" MONDO:0011275 "OMIM:602875" MONDO:0011275 "Orphanet:40" MONDO:0011275 "DOID:0080050" -MONDO:0011275 "ICD10:Q77.8" MONDO:0011275 "MESH:C535661" MONDO:0011275 "GARD:0000507" MONDO:0032675 "OMIM:618323" MONDO:0018738 "UMLS:CN242075" -MONDO:0018738 "ICD10:D30.0" +MONDO:0018738 "ICD10CM:D30.0" MONDO:0018738 "Orphanet:464359" MONDO:0030430 "OMIM:619515" HP:0030824 "UMLS:C4280748" @@ -104567,14 +101953,12 @@ MONDO:0013278 "Orphanet:79452" MONDO:0013278 "OMIM:613480" MONDO:0011001 "DOID:0110218" MONDO:0011001 "OMIM:601144" -MONDO:0011001 "ICD10:I49.8" MONDO:0011001 "Orphanet:130" MONDO:0011001 "UMLS:CN029323" MONDO:0011001 "UMLS:C1142166" MONDO:0014224 "UMLS:C3809753" MONDO:0014224 "OMIM:615516" MONDO:0014224 "Orphanet:329195" -MONDO:0013454 "ICD10:H35.5" MONDO:0013454 "MESH:C564140" MONDO:0013454 "OMIM:613837" MONDO:0013454 "HGNC:6052" @@ -104592,13 +101976,13 @@ MONDO:0022196 "UMLS:C0267145" MONDO:0022196 "GARD:0006099" MONDO:0022196 "SCTID:63137003" MONDO:0019818 "Orphanet:95465" -MONDO:0019818 "ICD10:Q23.3" +MONDO:0019818 "ICD10CM:Q23.3" MONDO:0010263 "SCTID:720982007" MONDO:0010263 "OMIM:300194" -MONDO:0010263 "ICD10:Q87.8" MONDO:0010263 "OMIM:300990" MONDO:0010263 "MESH:C564570" MONDO:0010263 "Orphanet:86818" +MONDO:0010263 "ICD10CM:Q87.8" MONDO:0010263 "UMLS:C1846242" MONDO:0032862 "OMIM:618667" MONDO:0015452 "GARD:0006124" @@ -104607,6 +101991,7 @@ MONDO:0015452 "ICD9:759.89" MONDO:0015452 "OMIMPS:135900" MONDO:0015452 "OMIM:615866" MONDO:0015452 "OMIM:614609" +MONDO:0015452 "ICD10CM:Q87.1" MONDO:0015452 "OMIM:614607" MONDO:0015452 "OMIM:135900" MONDO:0015452 "DOID:1925" @@ -104616,24 +102001,22 @@ MONDO:0015452 "MESH:C536436" MONDO:0015452 "Orphanet:1465" MONDO:0015452 "OMIM:616938" MONDO:0015452 "UMLS:C0265338" -MONDO:0015452 "ICD10:Q87.1" MONDO:0013657 "UMLS:C3280284" MONDO:0013657 "OMIM:614256" MONDO:0013657 "DOID:0070040" MONDO:0015829 "Orphanet:180065" MONDO:0011496 "ICD9:755.63" MONDO:0011496 "OMIM:604864" +MONDO:0011496 "ICD10CM:Q77.7" MONDO:0011496 "SCTID:254064009" -MONDO:0011496 "ICD10:Q77.7" MONDO:0011496 "MESH:C565740" MONDO:0011496 "Orphanet:93279" MONDO:0011496 "UMLS:C1858079" -MONDO:0017046 "ICD10:C71.9" MONDO:0017046 "GARD:0003963" +MONDO:0017046 "ICD10CM:C71.9" MONDO:0017046 "OMIM:612219" MONDO:0017046 "Orphanet:2677" MONDO:0012442 "DOID:0110517" -MONDO:0012442 "ICD10:H90.3" MONDO:0012442 "OMIM:610212" MONDO:0012442 "UMLS:C1857750" MONDO:0012442 "MESH:C565701" @@ -104650,8 +102033,8 @@ MONDO:0014090 "Orphanet:93334" MONDO:0012509 "Orphanet:189439" MONDO:0012509 "MESH:C566469" MONDO:0012509 "OMIM:610489" -MONDO:0007116 "ICD10:D18.0" MONDO:0007116 "GARD:0000676" +MONDO:0007116 "ICD10CM:D18.0" MONDO:0007116 "OMIM:106070" MONDO:0007116 "Orphanet:1062" MONDO:0002771 "DOID:3770" @@ -104662,8 +102045,8 @@ MONDO:0002771 "NCIT:C26869" MONDO:0043465 "SCTID:47481007" MONDO:0043465 "MESH:D000126" MONDO:0043465 "NCIT:C2850" -MONDO:0016893 "ICD10:Q93.5" MONDO:0016893 "Orphanet:261947" +MONDO:0016893 "ICD10CM:Q93.5" MONDO:0032911 "OMIM:618778" MONDO:0012898 "OMIM:612417" MONDO:0012898 "UMLS:C2676275" @@ -104671,40 +102054,40 @@ MONDO:0012898 "Orphanet:2073" MONDO:0013844 "OMIM:614668" MONDO:0013844 "UMLS:C3553403" MONDO:0015088 "Orphanet:100980" -MONDO:0015088 "ICD10:G11.4" +MONDO:0015088 "ICD10CM:G11.4" MONDO:0015088 "UMLS:CN226594" MONDO:0021427 "NCIT:C4042" MONDO:0021427 "Orphanet:502366" MONDO:0021427 "UMLS:C0280302" MONDO:0021427 "SCTID:255071008" MONDO:0021427 "OMIM:275355" -MONDO:0016034 "ICD10:Q36.1" -MONDO:0016034 "ICD10:Q37.1" +MONDO:0016034 "ICD10CM:Q37.0" MONDO:0016034 "Orphanet:1991" -MONDO:0016034 "ICD10:Q37.3" -MONDO:0016034 "ICD10:Q37.8" -MONDO:0016034 "ICD10:Q36.0" -MONDO:0016034 "ICD10:Q37.0" -MONDO:0016034 "ICD10:Q37.5" -MONDO:0016034 "ICD10:Q37.2" -MONDO:0016034 "ICD10:Q37.4" -MONDO:0016034 "ICD10:Q36.9" -MONDO:0016034 "ICD10:Q37.9" -MONDO:0005828 "ICD10:A32.8" -MONDO:0005828 "ICD10:A32.1" -MONDO:0005828 "Orphanet:533" -MONDO:0005828 "ICD10:A32.0" +MONDO:0016034 "ICD10CM:Q37.2" +MONDO:0016034 "ICD10CM:Q37.9" +MONDO:0016034 "ICD10CM:Q36.9" +MONDO:0016034 "ICD10CM:Q37.1" +MONDO:0016034 "ICD10CM:Q37.4" +MONDO:0016034 "ICD10CM:Q36.1" +MONDO:0016034 "ICD10CM:Q37.3" +MONDO:0016034 "ICD10CM:Q37.5" +MONDO:0016034 "ICD10CM:Q37.8" +MONDO:0016034 "ICD10CM:Q36.0" +MONDO:0005828 "ICD10CM:A32.1" +MONDO:0005828 "ICD10CM:A32.7" +MONDO:0005828 "MESH:D008088" +MONDO:0005828 "NCIT:C82994" MONDO:0005828 "MedDRA:10024641" -MONDO:0005828 "EFO:0007347" -MONDO:0005828 "GARD:0006915" -MONDO:0005828 "ICD10:A32" -MONDO:0005828 "UMLS:C0023860" +MONDO:0005828 "ICD10CM:A32.0" +MONDO:0005828 "ICD10CM:A32" +MONDO:0005828 "ICD10CM:A32.9" MONDO:0005828 "ICD9:027.0" +MONDO:0005828 "GARD:0006915" +MONDO:0005828 "EFO:0007347" MONDO:0005828 "DOID:11573" -MONDO:0005828 "ICD10:A32.7" -MONDO:0005828 "MESH:D008088" -MONDO:0005828 "NCIT:C82994" -MONDO:0005828 "ICD10:A32.9" +MONDO:0005828 "ICD10CM:A32.8" +MONDO:0005828 "UMLS:C0023860" +MONDO:0005828 "Orphanet:533" MONDO:0019020 "MESH:C537163" MONDO:0019020 "Orphanet:66624" MONDO:0019020 "UMLS:CN205481" @@ -104713,18 +102096,18 @@ MONDO:0023019 "GARD:0001984" MONDO:0019410 "OMIM:259600" MONDO:0019410 "Orphanet:85196" MONDO:0019410 "UMLS:CN206138" -MONDO:0019410 "ICD10:M89.5" +MONDO:0019410 "ICD10CM:M89.5" MONDO:0019410 "OMIM:277950" MONDO:0100394 "NCIT:C175584" MONDO:0008148 "NCIT:C98576" MONDO:0008148 "OMIM:616507" MONDO:0008148 "OMIM:613982" MONDO:0008148 "OMIM:610968" -MONDO:0008148 "ICD10:Q78.0" MONDO:0008148 "MESH:C536045" MONDO:0008148 "UMLS:C0268363" MONDO:0008148 "GARD:0008696" MONDO:0008148 "OMIM:259440" +MONDO:0008148 "ICD10CM:Q78.0" MONDO:0008148 "OMIM:610682" MONDO:0008148 "OMIM:615066" MONDO:0008148 "OMIM:166220" @@ -104737,7 +102120,7 @@ MONDO:0017267 "OMIM:242100" MONDO:0017267 "Orphanet:281122" MONDO:0017267 "OMIM:606545" MONDO:0017267 "UMLS:C1855789" -MONDO:0017267 "ICD10:Q80.2" +MONDO:0017267 "ICD10CM:Q80.2" MONDO:0017267 "SCTID:718632004" MONDO:0017267 "OMIM:242300" MONDO:0018213 "PMID:18348718" @@ -104745,12 +102128,12 @@ MONDO:0018213 "GARD:6635" MONDO:0018213 "OMIM:613708" MONDO:0018213 "OMIM:162400" MONDO:0018213 "Orphanet:36386" +MONDO:0018213 "ICD10CM:G60.8" MONDO:0018213 "OMIM:613640" MONDO:0018213 "GARD:0006635" MONDO:0018213 "SCTID:397734008" MONDO:0018213 "OMIM:615632" MONDO:0018213 "DOID:0070162" -MONDO:0018213 "ICD10:G60.8" MONDO:0005334 "EFO:0004128" MONDO:0005334 "SCTID:399340005" MONDO:0005334 "MESH:D009394" @@ -104758,18 +102141,18 @@ MONDO:0016901 "MESH:C538315" MONDO:0016901 "UMLS:C0795804" MONDO:0016901 "Orphanet:262010" MONDO:0016901 "GARD:0003744" -MONDO:0016901 "ICD10:Q93.5" +MONDO:0016901 "ICD10CM:Q93.5" HP:0000022 "UMLS:C4025899" HP:0012211 "UMLS:C0151746" HP:0012211 "SNOMEDCT_US:39539005" MONDO:0015275 "GARD:0004229" -MONDO:0015275 "ICD10:Q21.2" MONDO:0015275 "SCTID:718216009" +MONDO:0015275 "ICD10CM:Q21.2" MONDO:0015275 "Orphanet:1330" MONDO:0015275 "OMIM:600309" MONDO:0015275 "MESH:C536112" MONDO:0017475 "MESH:C537719" -MONDO:0017475 "ICD10:Q74.2" +MONDO:0017475 "ICD10CM:Q74.2" MONDO:0017475 "HP:0100747" MONDO:0017475 "Orphanet:295047" MONDO:0017475 "GARD:0006951" @@ -104788,16 +102171,16 @@ MONDO:0000833 "DOID:0080005" MONDO:0009589 "MESH:C565404" MONDO:0009589 "GARD:0003552" MONDO:0009589 "OMIM:249710" +MONDO:0009589 "ICD10CM:Q78.8" MONDO:0009589 "SCTID:715471007" MONDO:0009589 "Orphanet:2631" -MONDO:0009589 "ICD10:Q78.8" MONDO:0008087 "Orphanet:640" MONDO:0008087 "DOID:0060843" MONDO:0008087 "MedDRA:10069382" +MONDO:0008087 "ICD10CM:G60.0" MONDO:0008087 "OMIM:162500" MONDO:0008087 "MESH:C536965" MONDO:0008087 "SCTID:230558006" -MONDO:0008087 "ICD10:G60.0" MONDO:0008087 "GARD:0005221" MONDO:0009418 "OMIM:241000" MONDO:0009418 "MESH:C565482" @@ -104807,7 +102190,6 @@ MONDO:0007721 "MESH:D006551" MONDO:0007721 "OMIM:142400" MONDO:0007721 "HP:0002036" MONDO:0007721 "NCIT:C98945" -MONDO:0007721 "ICD10:K44" MONDO:0007721 "SCTID:84089009" MONDO:0021248 "NCIT:C3268" MONDO:0014780 "UMLS:C4225201" @@ -104823,14 +102205,11 @@ MONDO:0008710 "SCTID:205813009" MONDO:0008710 "OMIM:201000" MONDO:0000728 "UMLS:C0005745" MONDO:0000728 "NCIT:C27298" -MONDO:0000728 "ICD10:H02.409" MONDO:0000728 "MESH:D001763" MONDO:0000728 "UMLS:C0033377" MONDO:0000728 "ICD9:374.30" -MONDO:0000728 "ICD10:H02.40" MONDO:0000728 "DOID:0060260" MONDO:0000728 "ICD9:374.3" -MONDO:0000728 "ICD10:H02.4" MONDO:0000728 "HP:0000508" MONDO:0000728 "SCTID:11934000" MONDO:0020800 "UMLS:C0011302" @@ -104839,26 +102218,27 @@ MONDO:0020800 "SCTID:6118003" MONDO:0020800 "NCIT:C34526" MONDO:0020800 "ICD9:341.8" MONDO:0020800 "GARD:0012052" -MONDO:0016724 "ICD10:D44.5" +MONDO:0020800 "ICD10CM:G35-G37" MONDO:0016724 "Orphanet:251915" MONDO:0016724 "EFO:1000451" MONDO:0016724 "ICDO:9395/3" +MONDO:0016724 "ICD10CM:D44.5" MONDO:0016724 "NCIT:C92624" MONDO:0016724 "ONCOTREE:PTPR" MONDO:0016724 "UMLS:C2985219" MONDO:0020387 "SCTID:448794008" -MONDO:0020387 "ICD10:Q20.1" MONDO:0020387 "UMLS:CN207267" +MONDO:0020387 "ICD10CM:Q20.1" MONDO:0020387 "Orphanet:99045" +MONDO:0010498 "UMLS:C4085243" +MONDO:0010498 "ICD10CM:Q87.8" +MONDO:0010498 "OMIM:300960" +MONDO:0010498 "Orphanet:401973" MONDO:0018924 "GARD:0000087" -MONDO:0018924 "ICD10:Q11.2" +MONDO:0018924 "ICD10CM:Q11.2" MONDO:0018924 "OMIM:309800" MONDO:0018924 "OMIM:300166" MONDO:0018924 "Orphanet:568" -MONDO:0010498 "UMLS:C4085243" -MONDO:0010498 "ICD10:Q87.8" -MONDO:0010498 "OMIM:300960" -MONDO:0010498 "Orphanet:401973" MONDO:0006408 "NCIT:C48452" MONDO:0006408 "UMLS:C1710067" MONDO:0006408 "EFO:1000523" @@ -104868,12 +102248,12 @@ MONDO:0003765 "NCIT:C5319" MONDO:0005692 "UMLS:CN205187" MONDO:0005692 "NCIT:C84620" MONDO:0005692 "MedDRA:10007729" +MONDO:0005692 "ICD10CM:A28.1" MONDO:0005692 "MESH:D002372" MONDO:0005692 "UMLS:C0007361" MONDO:0005692 "DOID:11258" MONDO:0005692 "Orphanet:50839" MONDO:0005692 "GARD:0000027" -MONDO:0005692 "ICD10:A28.1" MONDO:0005692 "EFO:0007195" MONDO:0005692 "SCTID:79974007" MONDO:0005692 "ICD9:078.3" @@ -104882,19 +102262,18 @@ MONDO:0008838 "SCTID:720517001" MONDO:0008838 "MESH:C535295" MONDO:0008838 "OMIM:208850" MONDO:0008838 "GARD:0004644" -MONDO:0008838 "ICD10:G11.1" +MONDO:0008838 "ICD10CM:G11.1" NCBITaxon:11053 "GC_ID:1" -MONDO:0004849 "ICD10:J43.8" MONDO:0004849 "DOID:9675" MONDO:0004849 "SCTID:87433001" -MONDO:0004849 "ICD10:J43" +MONDO:0004849 "ICD10CM:J43" MONDO:0004849 "MESH:D011656" MONDO:0004849 "GARD:0011937" MONDO:0004849 "ICD9:492.8" MONDO:0004849 "NCIT:C3348" MONDO:0004849 "EFO:0000464" -MONDO:0004849 "MESH:D004646" MONDO:0004849 "ICD9:492" +MONDO:0004849 "MESH:D004646" MONDO:0004849 "OMIM:130700" MONDO:0002363 "UMLS:C0030354" MONDO:0002363 "MESH:D010212" @@ -104911,7 +102290,6 @@ MONDO:0003952 "UMLS:C1370505" MONDO:0003952 "DOID:6634" MONDO:0003952 "NCIT:C5793" MONDO:0007051 "SCTID:720456009" -MONDO:0007051 "ICD10:Q87.0" MONDO:0007051 "GARD:0000501" MONDO:0007051 "Orphanet:965" MONDO:0007051 "UMLS:C0796280" @@ -104920,18 +102298,18 @@ MONDO:0007051 "OMIM:102150" MONDO:0030939 "OMIM:619203" MONDO:0020784 "OMIM:612975" NCBITaxon:10116 "GC_ID:1" +MONDO:0014029 "ICD10CM:Q78.0" MONDO:0014029 "DOID:0110343" +MONDO:0014029 "UMLS:C3554428" MONDO:0014029 "OMIM:615066" MONDO:0014029 "Orphanet:666" -MONDO:0014029 "UMLS:C3554428" MONDO:0014029 "Orphanet:216820" -MONDO:0014029 "ICD10:Q78.0" -MONDO:0009650 "ICD10:E77.0" MONDO:0009650 "NCIT:C61270" MONDO:0009650 "SCTID:70199000" MONDO:0009650 "UMLS:C2673377" MONDO:0009650 "OMIM:252500" MONDO:0009650 "MESH:C538602" +MONDO:0009650 "ICD10CM:E77.0" MONDO:0009650 "Orphanet:576" MONDO:0009650 "UMLS:C0020725" MONDO:0009650 "DOID:0080070" @@ -104945,26 +102323,24 @@ MONDO:0001994 "ICD9:160.5" MONDO:0001994 "SCTID:363428005" MONDO:0001994 "NCIT:C3543" MONDO:0001994 "DOID:14546" -MONDO:0001994 "ICD10:C31.3" +MONDO:0001994 "ICD10CM:C31.3" MONDO:0001994 "UMLS:C0153479" MONDO:0020621 "OMIM:111750" MONDO:0004980 "OMIMPS:603165" MONDO:0004980 "OMIM:147050" +MONDO:0004980 "ICD10CM:L20-L30" MONDO:0004980 "OMIM:603165" -MONDO:0004980 "ICD10:L20" MONDO:0004980 "DOID:3310" MONDO:0004980 "EFO:0000274" -MONDO:0004980 "ICD10:L20.81" MONDO:0004980 "OMIM:605803" -MONDO:0004980 "ICD10:L20.9" MONDO:0004980 "NCIT:C3001" MONDO:0004980 "ICD9:691.8" MONDO:0004980 "ICD9:691" -MONDO:0017117 "ICD10:Q03.2" MONDO:0017117 "SCTID:762295002" -MONDO:0017117 "ICD10:Q03.1" +MONDO:0017117 "ICD10CM:Q03.1" +MONDO:0017117 "ICD10CM:Q03.8" +MONDO:0017117 "ICD10CM:Q03.2" MONDO:0017117 "Orphanet:269510" -MONDO:0017117 "ICD10:Q03.8" MONDO:0025377 "MESH:D000357" MONDO:0025377 "UMLS:C0001752" CL:1001601 "CALOHA:TS-2177" @@ -104976,41 +102352,40 @@ MONDO:0008891 "DOID:0050694" MONDO:0008891 "GARD:0009993" MONDO:0008891 "Orphanet:97229" MONDO:0008891 "OMIM:211500" -MONDO:0008891 "ICD10:G12.1" MONDO:0008891 "OMIM:614707" MONDO:0008891 "MESH:C537111" +MONDO:0008891 "ICD10CM:G12.1" MONDO:0012247 "MESH:C537204" MONDO:0012247 "OMIM:609307" MONDO:0012247 "UMLS:C4304846" MONDO:0012247 "UMLS:C1836383" MONDO:0012247 "DOID:0050976" +MONDO:0012247 "ICD10CM:G11.8" MONDO:0012247 "GARD:0009963" MONDO:0012247 "SCTID:719252002" -MONDO:0012247 "ICD10:G11.8" MONDO:0012247 "Orphanet:98764" MONDO:0010086 "SCTID:51178009" -MONDO:0010086 "ICD10:R95" +MONDO:0010086 "NCIT:C85173" +MONDO:0010086 "MedDRA:10042439" MONDO:0010086 "OMIM:272120" -MONDO:0010086 "ICD9:798.0" MONDO:0010086 "GARD:0007711" -MONDO:0010086 "MESH:D013398" -MONDO:0010086 "UMLS:C0038644" MONDO:0010086 "DOID:9007" MONDO:0010086 "EFO:0005303" -MONDO:0010086 "MedDRA:10042439" -MONDO:0010086 "NCIT:C85173" +MONDO:0010086 "MESH:D013398" +MONDO:0010086 "ICD10CM:R95" +MONDO:0010086 "ICD9:798.0" +MONDO:0010086 "UMLS:C0038644" MONDO:0011160 "MESH:C566611" MONDO:0011160 "DOID:0110470" MONDO:0011160 "OMIM:601869" MONDO:0011160 "UMLS:C1866094" -MONDO:0011160 "ICD10:H90.3" MONDO:8000010 "NCIT:C61283" MONDO:8000010 "MESH:D016736" -MONDO:8000010 "ICD10:D68.61" MONDO:8000010 "OMIM:107320" MONDO:8000010 "Orphanet:80" MONDO:8000010 "ICD9:279.49" MONDO:8000010 "DOID:2988" +MONDO:8000010 "ICD10CM:D68.61" MONDO:8000010 "SCTID:26843008" MONDO:8000010 "GARD:0005824" MONDO:8000010 "UMLS:C0085278" @@ -105020,9 +102395,9 @@ MONDO:0008313 "OMIM:176780" MONDO:0017304 "MESH:D016117" MONDO:0017304 "DOID:0050633" MONDO:0017304 "MedDRA:10065276" +MONDO:0017304 "ICD10CM:E70.3" MONDO:0017304 "SCTID:26399002" MONDO:0017304 "Orphanet:284804" -MONDO:0017304 "ICD10:E70.3" MONDO:0017304 "HP:0001107" MONDO:0017304 "ICD9:270.2" MONDO:0014426 "Orphanet:35612" @@ -105033,13 +102408,13 @@ MONDO:0010955 "MESH:C538018" MONDO:0010955 "UMLS:C1833169" MONDO:0010955 "OMIM:600906" MONDO:0016503 "Orphanet:231573" +MONDO:0011901 "ICD10CM:G60.0" MONDO:0011901 "SCTID:720637005" MONDO:0011901 "GARD:0009196" MONDO:0011901 "MESH:C535415" MONDO:0011901 "Orphanet:101102" MONDO:0011901 "OMIM:607731" MONDO:0011901 "UMLS:C1843173" -MONDO:0011901 "ICD10:G60.0" MONDO:0011901 "DOID:0110166" MONDO:0019684 "Orphanet:93419" MONDO:0019684 "UMLS:CN206613" @@ -105053,12 +102428,12 @@ MONDO:0044916 "UMLS:C1304517" MONDO:0044916 "NCIT:C6586" MONDO:0044916 "SCTID:404089007" MONDO:0017640 "Orphanet:306692" -MONDO:0017640 "ICD10:G21.2" +MONDO:0017640 "ICD10CM:G21.2" MONDO:0017640 "UMLS:CN203536" MONDO:0017640 "SCTID:766872002" +MONDO:0013688 "ICD10CM:L81.4" MONDO:0013688 "NCIT:C3924" MONDO:0013688 "GARD:0011004" -MONDO:0013688 "ICD10:L81.4" MONDO:0013688 "UMLS:C0263579" MONDO:0013688 "OMIM:614323" MONDO:0013688 "UMLS:C1304501" @@ -105070,8 +102445,8 @@ MONDO:0002481 "DOID:3002" MONDO:0018877 "Orphanet:52427" MONDO:0018877 "UMLS:CN205224" MONDO:0018877 "SCTID:715562001" +MONDO:0018877 "ICD10CM:H35.5" MONDO:0018877 "OMIM:136880" -MONDO:0018877 "ICD10:H35.5" MONDO:0009097 "OMIM:221900" MONDO:0009097 "UMLS:C1969783" MONDO:0009097 "Orphanet:300337" @@ -105084,7 +102459,6 @@ MONDO:0009754 "Orphanet:486" MONDO:0030527 "OMIM:619594" MONDO:0001909 "UMLS:C0001126" MONDO:0001909 "MESH:D000141" -MONDO:0001909 "ICD10:N25.89" MONDO:0001909 "GARD:0007552" MONDO:0001909 "OMIM:267200" MONDO:0001909 "SCTID:1776003" @@ -105105,19 +102479,19 @@ MONDO:0022140 "SCTID:193756007" MONDO:0001415 "SCTID:17585008" MONDO:0001415 "UMLS:C0156312" MONDO:0001415 "ICD9:608.3" -MONDO:0001415 "ICD10:N50.0" MONDO:0001415 "NCIT:C123259" MONDO:0001415 "DOID:11994" +MONDO:0001415 "ICD10CM:N50.0" MONDO:0004596 "SCTID:274096000" MONDO:0004596 "UMLS:C0034072" -MONDO:0004596 "ICD10:I27.81" -MONDO:0004596 "ICD10:I27.9" +MONDO:0004596 "ICD10CM:I27.81" +MONDO:0004596 "ICD10CM:I26-I28" MONDO:0004596 "MESH:D011660" MONDO:0004596 "DOID:8515" +MONDO:0009284 "ICD10CM:D55.1" MONDO:0009284 "MESH:C565545" MONDO:0009284 "UMLS:C1856399" MONDO:0009284 "OMIM:231900" -MONDO:0009284 "ICD10:D55.1" MONDO:0009284 "Orphanet:289849" MONDO:0009284 "Orphanet:32" NCBITaxon:31979 "GC_ID:11" @@ -105129,8 +102503,8 @@ MONDO:0017298 "GARD:0008640" MONDO:0017298 "UMLS:C0730298" MONDO:0008483 "OMIM:184450" MONDO:0015986 "Orphanet:1848" +MONDO:0015986 "ICD10CM:Q60.1" MONDO:0015986 "NCIT:C101219" -MONDO:0015986 "ICD10:Q60.1" MONDO:0015986 "DOID:0080200" CL:1000416 "FMA:67800" CL:1000416 "CALOHA:TS-2378" @@ -105140,7 +102514,7 @@ MONDO:0016932 "SCTID:726350006" MONDO:0016932 "Orphanet:262653" MONDO:0010359 "UMLS:C4305529" MONDO:0010359 "SCTID:717790004" -MONDO:0010359 "ICD10:N25.8" +MONDO:0010359 "ICD10CM:N25.8" MONDO:0010359 "Orphanet:93623" MONDO:0010359 "UMLS:C1845167" MONDO:0010359 "MESH:C564487" @@ -105155,8 +102529,8 @@ MONDO:0014175 "OMIM:615418" MONDO:0014175 "NCIT:C129977" MONDO:0014175 "DOID:0080335" MONDO:0014175 "DOID:0080130" +MONDO:0020424 "ICD10CM:Q24.5" MONDO:0020424 "Orphanet:99088" -MONDO:0020424 "ICD10:Q24.5" MONDO:0002856 "UMLS:C1333756" MONDO:0002856 "DOID:4057" MONDO:0002856 "NCIT:C5839" @@ -105166,20 +102540,19 @@ NCBITaxon:197562 "GC_ID:1" MONDO:0003802 "NCIT:C3565" MONDO:0003802 "SCTID:363464006" MONDO:0003802 "DOID:6199" -MONDO:0003802 "ICD10:C69.1" MONDO:0003802 "NCIT:C4361" MONDO:0003802 "ICD9:190.4" MONDO:0003802 "UMLS:C0153629" MONDO:0003802 "UMLS:C0339304" +MONDO:0017306 "ICD10CM:E70.1" MONDO:0017306 "SCTID:12957008" MONDO:0017306 "UMLS:C0268461" -MONDO:0017306 "ICD10:E70.1" +MONDO:0017306 "ICD10CM:E70.0" MONDO:0017306 "Orphanet:284814" MONDO:0017306 "ICD9:270.8" -MONDO:0017306 "ICD10:E70.0" +MONDO:0019233 "ICD10CM:E71.3" MONDO:0019233 "Orphanet:79188" MONDO:0019233 "UMLS:CN227598" -MONDO:0019233 "ICD10:E71.3" MONDO:0019233 "GARD:0012470" MONDO:0043317 "MESH:C538250" MONDO:0043317 "UMLS:C0406645" @@ -105199,7 +102572,7 @@ MONDO:0000200 "Orphanet:3473" MONDO:0000200 "GARD:0000385" MONDO:0000200 "ICD9:759.89" MONDO:0000200 "SCTID:699447001" -MONDO:0000200 "ICD10:Q87.8" +MONDO:0000200 "ICD10CM:Q87.8" MONDO:0000200 "MESH:C536725" MONDO:0000200 "OMIMPS:135500" MONDO:0000200 "OMIM:616455" @@ -105212,21 +102585,20 @@ MONDO:0001844 "UMLS:C1519860" MONDO:0009303 "OMIM:233450" MONDO:0009303 "ICD9:446.21" MONDO:0009303 "MESH:D019867" -MONDO:0009303 "ICD10:M31.0" +MONDO:0009303 "ICD10EXP:M31.0+" MONDO:0009303 "DOID:9808" MONDO:0009303 "MedDRA:10018620" MONDO:0009303 "GARD:0002551" MONDO:0009303 "NCIT:C84566" MONDO:0009303 "Orphanet:375" -MONDO:0009303 "ICD10:M31.0+" -MONDO:0009303 "ICD10:N08.5*" +MONDO:0009303 "ICD10EXP:N08.5*" MONDO:0009303 "UMLS:C0403529" MONDO:0009303 "EFO:0007290" MONDO:0009303 "SCTID:236432001" MONDO:0014396 "UMLS:C4014656" +MONDO:0014396 "ICD10CM:I42.0" MONDO:0014396 "OMIM:615916" MONDO:0014396 "DOID:0110432" -MONDO:0014396 "ICD10:I42.0" MONDO:0013142 "DOID:0070150" MONDO:0013142 "UMLS:C2751092" MONDO:0013142 "Orphanet:970" @@ -105241,31 +102613,29 @@ MONDO:0040671 "UMLS:C0272060" MONDO:0040671 "Orphanet:362" MONDO:0011830 "Orphanet:99796" MONDO:0011830 "Orphanet:95232" +MONDO:0011830 "ICD10CM:Q04.3" MONDO:0011830 "OMIM:607432" MONDO:0011830 "UMLS:CN228917" -MONDO:0011830 "ICD10:Q04.3" MONDO:0018747 "SCTID:2772003" -MONDO:0018747 "ICD10:L12.3" +MONDO:0018747 "ICD10CM:L12.3" MONDO:0018747 "UMLS:C0079293" MONDO:0018747 "EFO:1000691" MONDO:0018747 "Orphanet:46487" MONDO:0018747 "MedDRA:10056508" +MONDO:0018747 "NCIT:C84690" MONDO:0018747 "ICD9:695.19" MONDO:0018747 "MESH:D016107" -MONDO:0018747 "NCIT:C84690" MONDO:0018747 "DOID:4313" MONDO:0018747 "GARD:0006360" -MONDO:0018747 "ICD10:L12.30" MONDO:0054577 "OMIM:617443" MONDO:0008565 "UMLS:C3495590" MONDO:0008565 "GARD:0005204" MONDO:0008565 "MESH:C536909" -MONDO:0008565 "ICD10:Q89.2" MONDO:0008565 "Orphanet:93953" MONDO:0008565 "OMIM:188455" MONDO:0008565 "SCTID:717331000" +MONDO:0008565 "ICD10CM:Q89.2" MONDO:0001773 "ICD9:323.51" -MONDO:0001773 "ICD10:G04.02" MONDO:0001773 "SCTID:31367003" MONDO:0001773 "DOID:13664" MONDO:0001773 "UMLS:C0751101" @@ -105274,10 +102644,10 @@ MONDO:0018630 "OMIMPS:120435" MONDO:0018630 "NCIT:C120083" MONDO:0018630 "SCTID:315058005" MONDO:0018630 "Orphanet:443909" -MONDO:0008741 "ICD10:Q87.8" MONDO:0008741 "GARD:0003086" MONDO:0008741 "OMIM:202660" MONDO:0008741 "Orphanet:991" +MONDO:0008741 "ICD10CM:Q87.8" MONDO:0008741 "UMLS:C1859967" MONDO:0008741 "SCTID:722132007" MONDO:0008741 "MESH:C537018" @@ -105289,16 +102659,15 @@ MONDO:0004145 "UMLS:C0334605" MONDO:0004145 "EFO:1000372" MONDO:0007368 "OMIM:121270" MONDO:0007368 "MESH:C535468" -MONDO:0007368 "ICD10:E83.0" MONDO:0007368 "GARD:0001522" MONDO:0007368 "SCTID:763531001" MONDO:0007368 "Orphanet:1551" +MONDO:0007368 "ICD10CM:E83.0" MONDO:0007368 "UMLS:C1852576" MONDO:0003471 "UMLS:C0030757" MONDO:0003471 "SCTID:81000006" MONDO:0003471 "DOID:5501" MONDO:0003471 "ICD9:132.0" -MONDO:0003471 "ICD10:B85.0" MONDO:0007544 "OMIM:131400" MONDO:0007544 "SCTID:79336007" MONDO:0007544 "GARD:0010521" @@ -105308,7 +102677,6 @@ MONDO:0012906 "UMLS:C2676235" MONDO:0012906 "OMIM:612444" MONDO:0012906 "DOID:0110622" MONDO:0012906 "MESH:C567310" -MONDO:0012906 "ICD10:Q34.8" HP:0000118 "UMLS:C4021819" MONDO:0009286 "MESH:C535561" MONDO:0009286 "OMIM:231970" @@ -105333,7 +102701,7 @@ MONDO:0015461 "ICD9:756.3" MONDO:0015461 "NCIT:C85065" MONDO:0015461 "Orphanet:1505" MONDO:0015461 "SCTID:205484001" -MONDO:0015461 "ICD10:Q77.2" +MONDO:0015461 "ICD10CM:Q77.2" MONDO:0015461 "MESH:D012779" MONDO:0015461 "UMLS:C0036996" MONDO:0008089 "GARD:0003983" @@ -105344,7 +102712,6 @@ MONDO:0008089 "SCTID:234576008" MONDO:0008089 "UMLS:C3665676" MONDO:0020016 "Orphanet:98033" MONDO:0020016 "UMLS:CN206949" -MONDO:0012412 "ICD10:D84.1" MONDO:0012412 "UMLS:C1864694" MONDO:0012412 "OMIM:610102" MONDO:0012412 "DOID:0060300" @@ -105371,22 +102738,20 @@ MONDO:0006097 "DOID:5690" MONDO:0004785 "ICD9:373.9" MONDO:0004785 "ICD9:373.00" MONDO:0004785 "MESH:D001762" +MONDO:0004785 "ICD10CM:H01.0" MONDO:0004785 "NCIT:C112183" MONDO:0004785 "SCTID:41446000" MONDO:0004785 "DOID:9423" -MONDO:0004785 "ICD10:H01.9" MONDO:0004785 "ICD9:373.4" MONDO:0004785 "ICD9:373.0" -MONDO:0004785 "ICD10:H01.00" MONDO:0004785 "UMLS:C0005741" MONDO:0004785 "ICD9:373.8" -MONDO:0004785 "ICD10:H01.0" MONDO:0008962 "Orphanet:79476" MONDO:0008962 "UMLS:C1859194" MONDO:0008962 "MESH:C537301" MONDO:0008962 "GARD:0002566" MONDO:0008962 "DOID:0060832" -MONDO:0008962 "ICD10:E70.3" +MONDO:0008962 "ICD10CM:E70.3" MONDO:0008962 "OMIM:214450" MONDO:0008962 "Orphanet:381" MONDO:0005731 "ICD9:125.4" @@ -105398,11 +102763,11 @@ MONDO:0005731 "DOID:14422" MONDO:0005731 "NCIT:C34540" MONDO:0005731 "SCTID:15629006" MONDO:0009473 "MESH:C535542" -MONDO:0009473 "ICD10:Q87.8" MONDO:0009473 "SCTID:722006004" MONDO:0009473 "Orphanet:2306" MONDO:0009473 "GARD:0009675" MONDO:0009473 "OMIM:243440" +MONDO:0009473 "ICD10CM:Q87.8" MONDO:0003588 "NCIT:C6021" MONDO:0003588 "UMLS:C1334372" MONDO:0003588 "DOID:5696" @@ -105442,17 +102807,17 @@ MONDO:0004972 "ICDO:8140/0" MONDO:0004972 "DOID:657" MONDO:0004972 "NCIT:C2855" MONDO:0017109 "Orphanet:269209" -MONDO:0017109 "ICD10:Q04.3" +MONDO:0017109 "ICD10CM:Q04.3" MONDO:0008157 "Orphanet:1306" MONDO:0008157 "GARD:0001044" MONDO:0008157 "Orphanet:166119" MONDO:0008157 "OMIM:166700" MONDO:0008157 "DOID:0111536" MONDO:0008157 "MESH:C537415" -MONDO:0008157 "ICD10:Q78.8" +MONDO:0008157 "ICD10CM:Q78.8" MONDO:0018222 "OMIM:300699" MONDO:0018222 "Orphanet:364028" -MONDO:0018222 "ICD10:F72" +MONDO:0018222 "ICD10CM:F72" MONDO:0012705 "OMIM:611630" MONDO:0012705 "MESH:C566903" MONDO:0012705 "DOID:0060750" @@ -105461,9 +102826,9 @@ MONDO:0012705 "UMLS:C1968848" MONDO:0010641 "Orphanet:1018" MONDO:0010641 "MESH:C537113" MONDO:0010641 "OMIM:150700" -MONDO:0010641 "ICD10:Q87.8" MONDO:0010641 "GARD:0002432" MONDO:0010641 "OMIM:308940" +MONDO:0010641 "ICD10CM:Q87.8" NCBITaxon:11149 "GC_ID:1" NCBITaxon:4564 "GC_ID:1" MONDO:0018151 "NCIT:C142083" @@ -105481,10 +102846,10 @@ MONDO:0018151 "OMIM:614650" MONDO:0018151 "OMIM:614654" MONDO:0018151 "UMLS:CN229570" MONDO:0018151 "OMIM:614652" -MONDO:0015765 "ICD10:G71.2" +MONDO:0015765 "ICD10CM:G71.2" MONDO:0015765 "Orphanet:172976" MONDO:0020426 "Orphanet:99090" -MONDO:0020426 "ICD10:Q24.5" +MONDO:0020426 "ICD10CM:Q24.5" MONDO:0000405 "SCTID:363352004" MONDO:0000405 "ICD9:154.2" MONDO:0000405 "UMLS:C0153445" @@ -105505,7 +102870,6 @@ MONDO:0008344 "MESH:C535833" MONDO:0008344 "ICD9:993.2" MONDO:0008344 "OMIM:178400" MONDO:0008344 "ICD9:416.8" -MONDO:0002459 "ICD10:C88.9" MONDO:0002459 "UMLS:C0020522" MONDO:0002459 "DOID:2916" MONDO:0002459 "NCIT:C3115" @@ -105519,7 +102883,7 @@ MONDO:8000014 "UMLS:C2930802" MONDO:8000014 "GARD:0005824" MONDO:8000014 "MESH:C531622" MONDO:0005178 "OMIM:612400" -MONDO:0005178 "ICD10:M19" +MONDO:0005178 "ICD10CM:M15-M19" MONDO:0005178 "OMIM:612401" MONDO:0005178 "ICD9:715.3" MONDO:0005178 "GARD:0011929" @@ -105533,40 +102897,40 @@ MONDO:0005178 "OMIM:607850" MONDO:0005178 "OMIM:610839" MONDO:0005178 "MESH:D010003" MONDO:0005178 "EFO:0002506" +MONDO:0005178 "ICD10CM:M19" MONDO:0005178 "DOID:8398" MONDO:0007147 "ICD9:327.23" MONDO:0007147 "NCIT:C27168" MONDO:0007147 "NCIT:C116337" -MONDO:0007147 "ICD10:G47.33" MONDO:0007147 "NCIT:C26884" MONDO:0007147 "SCTID:230493001" MONDO:0007147 "ICD9:780.57" MONDO:0007147 "UMLS:C0520679" MONDO:0007147 "OMIM:107650" +MONDO:0007147 "ICD10CM:G47.33" MONDO:0007147 "DOID:0050848" MONDO:0007147 "SCTID:73430006" -MONDO:0007147 "ICD10:G47.30" +MONDO:0007147 "ICD10CM:G47.3" MONDO:0007147 "HP:0002870" MONDO:0007147 "MESH:D020181" MONDO:0007147 "MESH:D012891" MONDO:0007147 "EFO:0003918" -MONDO:0007147 "ICD10:G47.3" MONDO:0007147 "SCTID:78275009" MONDO:0010524 "DOID:0060064" MONDO:0010524 "SCTID:719816006" MONDO:0010524 "OMIM:301310" -MONDO:0010524 "ICD10:D64.0" MONDO:0010524 "MESH:C536358" MONDO:0010524 "Orphanet:2802" MONDO:0010524 "UMLS:C1845028" MONDO:0010524 "UMLS:C4304338" MONDO:0010524 "DOID:0050554" MONDO:0010524 "GARD:0000668" +MONDO:0010524 "ICD10CM:D64.0" MONDO:0005835 "NCIT:C8494" +MONDO:0005835 "ICD10CM:D48.9" MONDO:0005835 "NCIT:C120083" MONDO:0005835 "EFO:0007354" MONDO:0005835 "OMIM:614350" -MONDO:0005835 "ICD10:D48.9" MONDO:0005835 "OMIM:613244" MONDO:0005835 "OMIM:609310" MONDO:0005835 "DOID:3883" @@ -105578,7 +102942,6 @@ MONDO:0005835 "MedDRA:10051981" MONDO:0005835 "OMIM:614331" MONDO:0005835 "OMIM:614337" MONDO:0100036 "DOID:0050706" -MONDO:0100036 "http://orcid.org/0000-0001-8486-0558" HP:0011461 "UMLS:C4023347" NCBITaxon:1489341 "GC_ID:1" MONDO:0009089 "UMLS:C1857333" @@ -105596,22 +102959,22 @@ MONDO:0001846 "UMLS:C1519853" MONDO:0001846 "NCIT:C40167" MONDO:0001846 "DOID:13958" MONDO:0016451 "ICD9:327.11" -MONDO:0016451 "ICD10:G47.11" +MONDO:0016451 "ICD10CM:F51.1" +MONDO:0016451 "ICD10CM:G47.11" MONDO:0016451 "UMLS:C2711059" -MONDO:0016451 "ICD10:F51.1" MONDO:0016451 "SCTID:442416002" MONDO:0016451 "Orphanet:228315" MONDO:0000677 "DOID:0060147" MONDO:0014772 "DOID:0080408" MONDO:0014772 "OMIM:616788" MONDO:0005365 "EFO:0004238" +MONDO:0005365 "ICD10CM:H90" MONDO:0005365 "UMLS:C1384666" MONDO:0005365 "SCTID:15188001" -MONDO:0005365 "ICD9:389" MONDO:0005365 "NCIT:C35731" +MONDO:0005365 "ICD9:389" MONDO:0005365 "ICD9:389.8" MONDO:0005365 "MESH:D034381" -MONDO:0005365 "ICD10:H90" MONDO:0005365 "ICD9:389.9" MONDO:0009956 "OMIM:266350" MONDO:0009956 "GARD:0009757" @@ -105622,16 +102985,12 @@ MONDO:0006417 "EFO:1000534" MONDO:0006417 "UMLS:C3272522" MONDO:0006417 "NCIT:C96055" MONDO:0019897 "Orphanet:96149" -MONDO:0019897 "ICD10:Q93.5" +MONDO:0019897 "ICD10CM:Q93.5" MONDO:0018916 "OMIM:301800" -MONDO:0018916 "OMIM:107100" MONDO:0018916 "MESH:C537771" +MONDO:0018916 "OMIM:107100" MONDO:0018916 "OMIM:207500" -MONDO:0018916 "ICD10:Q42.3" MONDO:0018916 "Orphanet:557" -MONDO:0018916 "ICD10:Q42.1" -MONDO:0018916 "ICD10:Q42.2" -MONDO:0018916 "ICD10:Q42.0" MONDO:0026762 "OMIM:301041" MONDO:0010233 "ICD9:742.4" MONDO:0010233 "SCTID:448227009" @@ -105645,7 +103004,6 @@ MONDO:0019077 "Orphanet:69745" MONDO:0019077 "MedDRA:10068856" MONDO:0019077 "SCTID:254676008" MONDO:0013632 "OMIM:614211" -MONDO:0013632 "ICD10:H90.3" MONDO:0013632 "Orphanet:90635" MONDO:0013632 "DOID:0110562" MONDO:0014843 "UMLS:C4310783" @@ -105655,7 +103013,6 @@ MONDO:0007880 "GARD:0002446" MONDO:0007880 "MESH:C537676" MONDO:0007880 "NCIT:C98970" MONDO:0007880 "MESH:C563636" -MONDO:0007880 "ICD10:Q31.0" MONDO:0007880 "SCTID:444921008" MONDO:0007880 "OMIM:150360" MONDO:0007880 "MedDRA:10023871" @@ -105664,15 +103021,15 @@ MONDO:0020018 "Orphanet:98038" MONDO:0016568 "UMLS:C2931080" MONDO:0016568 "Orphanet:2408" MONDO:0016568 "MESH:C535996" -MONDO:0016568 "ICD10:Q87.8" MONDO:0016568 "GARD:0001695" +MONDO:0016568 "ICD10CM:Q87.8" MONDO:0016568 "SCTID:766249007" -MONDO:0015314 "ICD10:D18.1" MONDO:0015314 "SCTID:763617006" +MONDO:0015314 "ICD10CM:D18.1" MONDO:0015314 "Orphanet:137926" +MONDO:0017514 "ICD10CM:Q72.73" MONDO:0017514 "Orphanet:295126" -MONDO:0017514 "ICD10:Q72.73" -MONDO:0017514 "ICD10:Q72.7" +MONDO:0017514 "ICD10CM:Q72.7" MONDO:0007021 "MESH:D021182" MONDO:0007021 "DOID:3660" MONDO:0007021 "EFO:1001243" @@ -105680,13 +103037,12 @@ MONDO:0007021 "SCTID:420174000" MONDO:0007021 "UMLS:C0949570" MONDO:0032650 "OMIM:618276" MONDO:0006604 "UMLS:C0035854" -MONDO:0006604 "ICD10:L71" +MONDO:0006604 "ICD10CM:L71" MONDO:0006604 "ICD9:695.3" MONDO:0006604 "MESH:D012393" MONDO:0006604 "DOID:8881" MONDO:0006604 "Wikipedia:Rosacea" MONDO:0006604 "NCIT:C97136" -MONDO:0006604 "ICD10:L71.9" MONDO:0006604 "EFO:1000760" MONDO:0006604 "SCTID:398909004" MONDO:0002355 "SCTID:372103002" @@ -105695,25 +103051,24 @@ MONDO:0002355 "UMLS:C0740083" MONDO:0002355 "DOID:2599" MONDO:0002008 "ICD9:386.30" MONDO:0002008 "UMLS:C0022893" -MONDO:0002008 "ICD10:H83.0" +MONDO:0002008 "ICD10CM:H83.0" MONDO:0002008 "SCTID:23919004" MONDO:0002008 "DOID:1468" MONDO:0002008 "ICD9:386.3" MONDO:0002008 "NCIT:C128369" MONDO:0002008 "DOID:3930" -MONDO:0002008 "ICD10:H83.09" MONDO:0002008 "MESH:D007762" MONDO:0019944 "GARD:0006323" +MONDO:0019944 "ICD10CM:I27.2" MONDO:0019944 "MedDRA:10058554" MONDO:0019944 "Orphanet:97214" MONDO:0019944 "UMLS:C0013743" MONDO:0019944 "NCIT:C84390" MONDO:0019944 "MESH:D004541" -MONDO:0019944 "ICD10:I27.2" MONDO:0019944 "SCTID:445928005" -MONDO:0020428 "ICD10:Q21.0" MONDO:0020428 "Orphanet:99095" MONDO:0020428 "SCTID:204312002" +MONDO:0020428 "ICD10CM:Q21.0" MONDO:0001292 "DOID:11465" MONDO:0001292 "SCTID:15241006" MONDO:0001292 "SCTID:128123007" @@ -105726,33 +103081,31 @@ MONDO:0010030 "NCIT:C26883" MONDO:0010030 "ICD9:710.2" MONDO:0010030 "MESH:D012859" MONDO:0010030 "OMIM:270150" -MONDO:0010030 "ICD10:M35.0" -MONDO:0010030 "ICD10:M35.00" MONDO:0010030 "Orphanet:378" MONDO:0010030 "EFO:0000699" MONDO:0010030 "Orphanet:289390" MONDO:0010030 "SCTID:83901003" MONDO:0010030 "DOID:12894" MONDO:0014060 "OMIM:615147" +MONDO:0014060 "ICD10CM:H35.5" MONDO:0014060 "UMLS:C3554593" MONDO:0014060 "Orphanet:352718" -MONDO:0014060 "ICD10:H35.5" MONDO:0011674 "OMIM:606482" MONDO:0011674 "GARD:0012438" MONDO:0011674 "SCTID:765745007" +MONDO:0011674 "ICD10CM:G60.0" MONDO:0011674 "Orphanet:100044" MONDO:0011674 "DOID:0110197" MONDO:0011674 "UMLS:CN197338" MONDO:0011674 "Orphanet:228179" -MONDO:0011674 "ICD10:G60.0" MONDO:0010420 "Orphanet:79278" MONDO:0010420 "GARD:0010915" MONDO:0010420 "OMIM:300752" MONDO:0010420 "Orphanet:443197" MONDO:0010420 "MESH:C567464" -MONDO:0010420 "ICD10:E80.0" +MONDO:0010420 "ICD10CM:E80.0" MONDO:0017172 "Orphanet:276223" -MONDO:0017172 "ICD10:E76.2" +MONDO:0017172 "ICD10CM:E76.2" MONDO:0017172 "UMLS:CN202601" MONDO:0016755 "GARD:0007191" MONDO:0016755 "ICDO:9540/0" @@ -105769,15 +103122,12 @@ MONDO:0016755 "ONCOTREE:NFIB" MONDO:0004646 "ICD9:707.0" MONDO:0004646 "DOID:8717" MONDO:0004646 "NCIT:C50706" -MONDO:0004646 "ICD10:L89.9" -MONDO:0004646 "ICD10:L89" MONDO:0004646 "MESH:D003668" MONDO:0004646 "EFO:0007067" MONDO:0004646 "SCTID:399912005" MONDO:0004646 "ICD9:707.00" MONDO:0004646 "UMLS:C0011127" MONDO:0004822 "OMIM:613021" -MONDO:0004822 "ICD10:J47.9" MONDO:0004822 "ICD9:494" MONDO:0004822 "SCTID:12295008" MONDO:0004822 "NCIT:C84475" @@ -105786,59 +103136,56 @@ MONDO:0004822 "OMIMPS:211400" MONDO:0004822 "OMIM:211400" MONDO:0004822 "MESH:D001987" MONDO:0004822 "UMLS:C0006267" -MONDO:0004822 "ICD10:J47" +MONDO:0004822 "ICD10CM:J47" MONDO:0004822 "OMIM:613071" MONDO:0004822 "Orphanet:60033" -MONDO:0001596 "ICD10:F45.21" MONDO:0001596 "DOID:12883" -MONDO:0001596 "ICD10:F45.2" MONDO:0001596 "SCTID:18193002" MONDO:0001596 "ICD9:300.7" MONDO:0001596 "NCIT:C9493" MONDO:0001596 "MESH:D006998" -MONDO:0014388 "ICD10:Q36.1" MONDO:0014388 "OMIM:615892" +MONDO:0014388 "ICD10CM:Q36.1" MONDO:0014388 "Orphanet:401942" MONDO:0000226 "ICD9:275.8" MONDO:0000226 "ICD9:275.9" -MONDO:0000226 "ICD10:E83" MONDO:0000226 "SCTID:45744005" +MONDO:0000226 "ICD10CM:E83" MONDO:0003796 "UMLS:C1335681" MONDO:0003796 "DOID:6190" MONDO:0003796 "NCIT:C5550" MONDO:0020615 "OMIM:111250" MONDO:0011861 "OMIM:607578" MONDO:0006825 "SCTID:86188000" +MONDO:0006825 "ICD10CM:A81.81" MONDO:0006825 "MESH:D007729" MONDO:0006825 "UMLS:C0022802" MONDO:0006825 "ICD9:046.0" MONDO:0006825 "MedDRA:10023497" -MONDO:0006825 "ICD10:A81.81" +MONDO:0006825 "ICD10CM:A81.8" MONDO:0006825 "Orphanet:454745" MONDO:0006825 "EFO:1001008" MONDO:0006825 "OMIM:245300" MONDO:0006825 "DOID:648" -MONDO:0006825 "ICD10:A81.8" MONDO:0006825 "GARD:0007617" MONDO:0044876 "NCIT:C112208" -MONDO:0019489 "ICD10:Q82.8" +MONDO:0019489 "ICD10CM:Q82.8" MONDO:0019489 "UMLS:CN206272" MONDO:0019489 "Orphanet:86918" MONDO:0018001 "Orphanet:329324" -MONDO:0018001 "ICD10:Q87.2" MONDO:0018001 "UMLS:CN204209" +MONDO:0018001 "ICD10CM:Q87.2" MONDO:0005250 "EFO:0003110" MONDO:0005250 "SCTID:388604008" MONDO:0005250 "UMLS:C1270169" MONDO:0017445 "SCTID:371199008" MONDO:0017445 "Orphanet:294983" -MONDO:0017445 "ICD10:Q71.3" MONDO:0008767 "Orphanet:79264" -MONDO:0008767 "ICD10:E75.4" MONDO:0008767 "OMIM:204200" MONDO:0008767 "NCIT:C61258" MONDO:0008767 "Orphanet:228346" MONDO:0008767 "GARD:0005897" +MONDO:0008767 "ICD10CM:E75.4" MONDO:0008767 "DOID:0110731" MONDO:0025114 "MESH:D011529" MONDO:0025114 "UMLS:C0033741" @@ -105849,20 +103196,20 @@ MONDO:0010947 "ICD9:453.0" MONDO:0010947 "MedDRA:10006537" MONDO:0010947 "UMLS:C0856761" MONDO:0010947 "MESH:D006502" -MONDO:0010947 "ICD10:I82.0" MONDO:0010947 "OMIM:600880" MONDO:0010947 "Orphanet:131" +MONDO:0010947 "ICD10CM:I82.0" MONDO:0010947 "GARD:0005968" MONDO:0010947 "SCTID:82385007" MONDO:0016043 "Orphanet:199302" MONDO:0016043 "OMIM:600757" MONDO:0016043 "OMIM:608371" -MONDO:0016043 "ICD10:Q36.1" MONDO:0016043 "OMIM:129400" -MONDO:0016043 "ICD10:Q36.9" +MONDO:0016043 "ICD10CM:Q36.1" MONDO:0016043 "OMIM:602966" -MONDO:0016043 "ICD10:Q36.0" +MONDO:0016043 "ICD10CM:Q36.9" MONDO:0016043 "MedDRA:10009259" +MONDO:0016043 "ICD10CM:Q36.0" MONDO:0016043 "OMIM:608874" MONDO:0016043 "OMIM:225060" MONDO:0016043 "OMIM:119530" @@ -105870,8 +103217,6 @@ MONDO:0016043 "OMIM:612858" MONDO:0016043 "OMIM:610361" MONDO:0010526 "NCIT:C27528" MONDO:0010526 "DOID:14499" -MONDO:0010526 "ICD10:E75.21" -MONDO:0010526 "ICD10:E75.2" MONDO:0010526 "Orphanet:324" MONDO:0010526 "OMIM:301500" MONDO:0010526 "MedDRA:10016016" @@ -105880,17 +103225,17 @@ MONDO:0010526 "GARD:0006400" MONDO:0010526 "NCIT:C84701" MONDO:0010526 "UMLS:C0002986" MONDO:0010526 "SCTID:16652001" +MONDO:0010526 "ICD10CM:E75.2" MONDO:0016686 "Orphanet:251595" MONDO:0016686 "UMLS:C0280785" MONDO:0016686 "GARD:0005907" +MONDO:0016686 "ICD10CM:C71.9" MONDO:0016686 "ONCOTREE:DASTR" -MONDO:0016686 "ICD10:C71.9" MONDO:0016686 "NCIT:C7173" MONDO:0032747 "OMIM:618432" MONDO:0017632 "Orphanet:306636" NCBITaxon:10880 "GC_ID:1" MONDO:0001918 "ICD9:375.21" -MONDO:0001918 "ICD10:H04.21" MONDO:0001918 "SCTID:31788005" MONDO:0001918 "DOID:14244" MONDO:0001918 "UMLS:C0155233" @@ -105906,11 +103251,11 @@ MONDO:0004238 "NCIT:C5271" MONDO:0004238 "DOID:7482" MONDO:0004238 "UMLS:C1335396" MONDO:0015284 "Orphanet:1350" -MONDO:0015284 "ICD10:Q87.2" MONDO:0015284 "MESH:C536784" MONDO:0015284 "GARD:0009847" MONDO:0015284 "UMLS:C2931323" MONDO:0015284 "SCTID:721010003" +MONDO:0015284 "ICD10CM:Q87.2" MONDO:0033640 "OMIM:619073" MONDO:0016230 "Orphanet:211243" MONDO:0030487 "OMIM:619638" @@ -105924,33 +103269,31 @@ MONDO:0001071 "ICD9:319" MONDO:0001071 "NCIT:C97250" MONDO:0001071 "DOID:1059" MONDO:0001071 "MESH:D008607" -MONDO:0001071 "ICD10:F70.F79" MONDO:0001071 "EFO:0003847" +MONDO:0001071 "ICD10CM:F70-F79" MONDO:0004588 "NCIT:C34850" -MONDO:0004588 "ICD10:H53.6" MONDO:0004588 "SCTID:65194006" MONDO:0004588 "ICD9:368.69" MONDO:0004588 "NCIT:C37997" MONDO:0004588 "MESH:D009755" MONDO:0004588 "UMLS:C0028077" +MONDO:0004588 "ICD10CM:H53.6" MONDO:0004588 "DOID:8499" MONDO:0004588 "ICD9:368.6" -MONDO:0004588 "ICD10:H53.60" MONDO:0004588 "ICD9:368.60" -MONDO:0002154 "ICD10:A59" MONDO:0002154 "MESH:D014245" MONDO:0002154 "ICD9:131.9" MONDO:0002154 "UMLS:C0040921" MONDO:0002154 "NCIT:C35720" +MONDO:0002154 "ICD10CM:A59" MONDO:0002154 "ICD9:131" MONDO:0002154 "DOID:1947" MONDO:0002154 "SCTID:56335008" MONDO:0002154 "ICD9:131.8" -MONDO:0002154 "ICD10:A59.9" MONDO:0011106 "Orphanet:412022" +MONDO:0011106 "ICD10CM:Q87.0" MONDO:0011106 "MESH:C563293" MONDO:0011106 "UMLS:C1832167" -MONDO:0011106 "ICD10:Q87.0" MONDO:0011106 "OMIM:601552" MONDO:0023607 "GARD:0003201" MONDO:0023607 "MESH:C537882" @@ -105961,19 +103304,18 @@ MONDO:0003100 "DOID:4693" MONDO:0018918 "MedDRA:10007426" MONDO:0018918 "UMLS:CN205299" MONDO:0018918 "Orphanet:56044" -MONDO:0001049 "ICD10:I24.1" MONDO:0001049 "ICD9:411.0" MONDO:0001049 "UMLS:C0152107" +MONDO:0001049 "ICD10CM:I24.1" MONDO:0001049 "DOID:10507" MONDO:0001049 "SCTID:66189004" MONDO:0005530 "MESH:D009293" MONDO:0005530 "SCTID:75544000" -MONDO:0005530 "ICD10:F11.2" MONDO:0005530 "ICD9:304.00" MONDO:0005530 "DOID:2559" MONDO:0005530 "ICD9:304.0" MONDO:0005530 "EFO:0005611" -MONDO:0017749 "ICD10:E77.8" +MONDO:0017749 "ICD10CM:E77.8" MONDO:0017749 "Orphanet:309526" MONDO:0017749 "UMLS:CN227195" FOODON:03400260 "http://www.langual.org/langual_thesaurus.asp?termid=A0260" @@ -105987,12 +103329,11 @@ MONDO:0004425 "EFO:0009189" MONDO:0004425 "OMIM:609152" MONDO:0004425 "SCTID:34486009" MONDO:0004425 "Orphanet:99819" -MONDO:0004425 "ICD10:E05.9" MONDO:0012593 "OMIM:610978" MONDO:0012593 "Orphanet:209905" MONDO:0012593 "MESH:C567034" MONDO:0012593 "GARD:0012163" -MONDO:0012593 "ICD10:E03.1" +MONDO:0012593 "ICD10CM:E03.1" MONDO:0012593 "SCTID:719098007" MONDO:0000005 "OMIMPS:203655" MONDO:0021257 "NCIT:C3061" @@ -106002,11 +103343,11 @@ HP:0002202 "SNOMEDCT_US:60046008" HP:0002202 "UMLS:C0032227" HP:0011031 "UMLS:C4023583" MONDO:0019242 "UMLS:C0342712" -MONDO:0019242 "ICD10:E71.0" +MONDO:0019242 "ICD10CM:E71.1" +MONDO:0019242 "ICD10CM:E71.2" MONDO:0019242 "Orphanet:79197" -MONDO:0019242 "ICD10:E71.2" MONDO:0019242 "SCTID:116020001" -MONDO:0019242 "ICD10:E71.1" +MONDO:0019242 "ICD10CM:E71.0" MONDO:0000341 "DOID:0050515" MONDO:0004083 "UMLS:C2937231" MONDO:0004083 "ICDO:8096/0" @@ -106026,8 +103367,8 @@ MONDO:0006283 "NCIT:C45519" MONDO:0006283 "ONCOTREE:LECLC" MONDO:0006283 "EFO:1000340" MONDO:0006283 "UMLS:C1708792" -MONDO:0018435 "ICD10:C92.0" MONDO:0018435 "Orphanet:402020" +MONDO:0018435 "ICD10CM:C92.0" MONDO:0018435 "GARD:0012759" MONDO:0008546 "NCIT:C98583" MONDO:0008546 "Orphanet:1860" @@ -106035,8 +103376,9 @@ MONDO:0008546 "GARD:0004889" MONDO:0008546 "UMLS:C1868678" MONDO:0008546 "UMLS:C1300256" MONDO:0008546 "GARD:0009295" -MONDO:0008546 "ICD10:Q77.1" +MONDO:0008546 "OMIM:270230" MONDO:0008546 "Orphanet:2655" +MONDO:0008546 "ICD10CM:Q77.1" MONDO:0008546 "OMIM:187600" MONDO:0006112 "ONCOTREE:IMTB" MONDO:0006112 "NCIT:C6177" @@ -106051,17 +103393,16 @@ MONDO:0007349 "Orphanet:47045" MONDO:0007349 "DOID:0090062" MONDO:0007349 "SCTID:238687000" MONDO:0007349 "UMLS:C0343068" -MONDO:0007349 "ICD10:L50.2" +MONDO:0002520 "ICD10CM:E80.2" +MONDO:0002520 "UMLS:C0162533" +MONDO:0002520 "UMLS:CN552491" MONDO:0002520 "Orphanet:100924" -MONDO:0002520 "MESH:D017094" -MONDO:0002520 "DOID:3133" -MONDO:0002520 "Orphanet:95157" -MONDO:0002520 "ICD10:E80.2" MONDO:0002520 "OMIM:612740" -MONDO:0002520 "UMLS:C0162533" MONDO:0002520 "SCTID:55056006" MONDO:0002520 "GTR:AN0932921" -MONDO:0002520 "UMLS:CN552491" +MONDO:0002520 "DOID:3133" +MONDO:0002520 "Orphanet:95157" +MONDO:0002520 "MESH:D017094" MONDO:0013151 "UMLS:C2751055" MONDO:0013151 "MESH:C567729" MONDO:0013151 "OMIM:613144" @@ -106083,7 +103424,6 @@ MONDO:0006470 "NCIT:C8183" MONDO:0006470 "UMLS:C0280317" MONDO:0006470 "EFO:1000597" MONDO:0044878 "NCIT:C114777" -MONDO:0009987 "ICD10:H35.5" MONDO:0009987 "DOID:0110422" MONDO:0009987 "MESH:C564838" MONDO:0009987 "UMLS:C1849398" @@ -106092,13 +103432,12 @@ MONDO:0009987 "Orphanet:791" MONDO:0020583 "NCIT:C129438" MONDO:0012915 "MESH:C567290" MONDO:0012915 "Orphanet:250994" -MONDO:0012915 "ICD10:Q92.3" MONDO:0012915 "OMIM:612475" MONDO:0012915 "DOID:0060435" MONDO:0012915 "UMLS:C2675891" MONDO:0012915 "GARD:0010591" MONDO:0020071 "Orphanet:98258" -MONDO:0020071 "ICD10:G40.4" +MONDO:0020071 "ICD10CM:G40.4" MONDO:0020071 "UMLS:CN206975" MONDO:0002908 "MESH:D044882" MONDO:0002908 "NCIT:C53655" @@ -106106,6 +103445,7 @@ MONDO:0002908 "ICD9:271.8" MONDO:0002908 "DOID:4194" MONDO:0002908 "SCTID:126877002" MONDO:0002908 "UMLS:C1257958" +MONDO:0002908 "ICD10CM:E15-E16" CL:0002063 "BTO:0000538" CL:0002063 "FMA:62501" MONDO:0023100 "GARD:0002220" @@ -106115,7 +103455,7 @@ MONDO:0012014 "OMIM:608340" MONDO:0012014 "MESH:C564256" MONDO:0012014 "DOID:0110201" MONDO:0012014 "GARD:0012453" -MONDO:0012014 "ICD10:G60.0" +MONDO:0012014 "ICD10CM:G60.0" MONDO:0012014 "Orphanet:217055" MONDO:0012014 "UMLS:C1842197" MONDO:0013658 "OMIM:614257" @@ -106130,9 +103470,9 @@ MONDO:0019936 "UMLS:CN227722" MONDO:0023599 "SCTID:205473008" MONDO:0023599 "UMLS:C0410536" MONDO:0023599 "NCIT:C121156" -MONDO:0018739 "ICD10:P61.5" MONDO:0018739 "UMLS:C0272176" MONDO:0018739 "Orphanet:464370" +MONDO:0018739 "ICD10CM:P61.5" MONDO:0018739 "SCTID:14333004" MONDO:0024541 "OMIM:222470" MONDO:0024541 "UMLS:C1857276" @@ -106149,62 +103489,58 @@ MONDO:0010056 "GARD:0000564" MONDO:0010056 "OMIM:271150" MONDO:0010056 "Orphanet:70" MONDO:0010056 "Orphanet:83420" -MONDO:0010056 "ICD10:G12.1" MONDO:0010056 "DOID:0050529" MONDO:0010056 "SCTID:85505000" -MONDO:0013279 "ICD10:I45.8" +MONDO:0010056 "ICD10CM:G12.1" MONDO:0013279 "OMIM:613485" MONDO:0013279 "DOID:0110654" MONDO:0013279 "Orphanet:101016" MONDO:0013279 "Orphanet:768" MONDO:0013279 "UMLS:C3150733" -MONDO:0032912 "OMIM:618779" MONDO:0011002 "Orphanet:90120" MONDO:0011002 "UMLS:C0393807" MONDO:0011002 "OMIM:601152" +MONDO:0014225 "ICD10CM:E83.1" MONDO:0014225 "Orphanet:447792" MONDO:0014225 "MESH:C565020" -MONDO:0014225 "ICD10:E83.1" MONDO:0014225 "Orphanet:247790" MONDO:0014225 "DOID:0111031" MONDO:0014225 "UMLS:CN181217" MONDO:0014225 "UMLS:C1851316" MONDO:0014225 "UMLS:CN237708" MONDO:0014225 "OMIM:615517" +MONDO:0032912 "OMIM:618779" MONDO:0012899 "MESH:C567317" MONDO:0012899 "UMLS:C2676272" MONDO:0012899 "OMIM:612421" -MONDO:0013845 "Orphanet:137888" -MONDO:0013845 "OMIM:614669" -MONDO:0013845 "UMLS:C3553404" MONDO:0030705 "SCTID:71590000" MONDO:0030705 "NCIT:C35176" MONDO:0030705 "UMLS:C0153315" MONDO:0030705 "ICD9:131.03" +MONDO:0013845 "Orphanet:137888" +MONDO:0013845 "OMIM:614669" +MONDO:0013845 "UMLS:C3553404" HP:0000517 "MSH:D007905" HP:0000517 "UMLS:C0549651" HP:0000517 "UMLS:C0023308" HP:0000517 "SNOMEDCT_US:10810001" -MONDO:0001331 "UMLS:C0162280" -MONDO:0001331 "DOID:11653" -MONDO:0001331 "ICD10:H11.11" -MONDO:0001331 "SCTID:62660000" -MONDO:0001331 "ICD9:372.56" NCBITaxon:570 "PMID:10555350" NCBITaxon:570 "PMID:12635932" NCBITaxon:570 "PMID:11411716" NCBITaxon:570 "GC_ID:11" +MONDO:0001331 "UMLS:C0162280" +MONDO:0001331 "DOID:11653" +MONDO:0001331 "SCTID:62660000" +MONDO:0001331 "ICD9:372.56" MONDO:0032863 "OMIM:618670" MONDO:0015453 "UMLS:CN199560" MONDO:0015453 "GARD:0001421" MONDO:0015453 "DOID:0060216" -MONDO:0015453 "ICD10:H16.3" MONDO:0015453 "SCTID:405810005" MONDO:0015453 "MESH:D055952" -MONDO:0015453 "ICD10:H16.32" +MONDO:0015453 "ICD10CM:H16.3" MONDO:0015453 "MedDRA:10056667" MONDO:0015453 "Orphanet:1467" -MONDO:0004848 "ICD10:K12.1" MONDO:0004848 "DOID:9673" MONDO:0004848 "ICD9:528.00" MONDO:0004848 "SCTID:450005" @@ -106213,7 +103549,7 @@ MONDO:0004848 "NCIT:C35039" MONDO:0011108 "OMIM:601559" MONDO:0011108 "SCTID:254097005" MONDO:0011108 "Orphanet:3206" -MONDO:0011108 "ICD10:Q78.8" +MONDO:0011108 "ICD10CM:Q78.8" MONDO:0011108 "UMLS:C0432240" MONDO:0011108 "UMLS:C0796176" MONDO:0011108 "MESH:C537502" @@ -106223,12 +103559,12 @@ MONDO:0019195 "SCTID:724349009" MONDO:0019195 "Orphanet:79091" MONDO:0019195 "OMIM:605637" MONDO:0019195 "GARD:0009494" -MONDO:0019195 "ICD10:G71.8" +MONDO:0019195 "ICD10CM:G71.8" MONDO:0011497 "Orphanet:168583" -MONDO:0011497 "ICD10:K74.6" MONDO:0011497 "OMIM:604901" MONDO:0011497 "MESH:C565737" MONDO:0011497 "UMLS:C1858051" +MONDO:0011497 "ICD10CM:K74.6" MONDO:0011497 "SCTID:699189004" MONDO:0012443 "UMLS:C1857749" MONDO:0012443 "OMIM:610213" @@ -106244,10 +103580,10 @@ MONDO:0003510 "SCTID:713646001" MONDO:0022869 "GARD:0001534" MONDO:0044243 "OMIM:161070" MONDO:0018027 "SCTID:723332005" +MONDO:0018027 "ICD10CM:Q99.8" MONDO:0018027 "MESH:C580205" MONDO:0018027 "Orphanet:3306" MONDO:0018027 "GARD:0005153" -MONDO:0018027 "ICD10:Q99.8" NCBITaxon:134742 "GC_ID:1" MONDO:0002772 "DOID:3772" MONDO:0002772 "MESH:D008579" @@ -106255,10 +103591,10 @@ MONDO:0002772 "UMLS:C1334271" MONDO:0002772 "NCIT:C5273" CL:0000175 "FMA:18688" CL:0000175 "BTO:0003939" -MONDO:0016894 "ICD10:Q93.5" +MONDO:0016894 "ICD10CM:Q93.5" MONDO:0016894 "Orphanet:261956" MONDO:0015500 "GARD:0012663" -MONDO:0015500 "ICD10:Q27.3" +MONDO:0015500 "ICD10CM:Q27.3" MONDO:0015500 "Orphanet:156230" MONDO:0060766 "NCIT:C3957" MONDO:0060766 "SCTID:88580009" @@ -106268,30 +103604,30 @@ MONDO:0009419 "GARD:0005592" MONDO:0009419 "MESH:C536742" MONDO:0009419 "ICD9:759.89" MONDO:0009419 "SCTID:237616002" -MONDO:0009419 "ICD10:Q87.8" +MONDO:0009419 "ICD10CM:Q87.8" MONDO:0009419 "UMLS:C0342286" MONDO:0009419 "Orphanet:3464" MONDO:0013905 "UMLS:C3553816" -MONDO:0013905 "ICD10:G11.1" MONDO:0013905 "DOID:0080062" MONDO:0013905 "OMIM:614831" +MONDO:0013905 "ICD10CM:G11.1" MONDO:0013905 "Orphanet:324262" MONDO:0013905 "Orphanet:363429" MONDO:0019411 "UMLS:C1300229" MONDO:0019411 "OMIM:137360" +MONDO:0019411 "ICD10CM:Q78.4" MONDO:0019411 "Orphanet:85197" -MONDO:0019411 "ICD10:Q78.4" MONDO:0100395 "NCIT:C131502" MONDO:0100395 "NCIT:C131503" +MONDO:0008149 "ICD10CM:Q78.0" MONDO:0008149 "OMIM:166230" MONDO:0008149 "DOID:0110335" MONDO:0008149 "UMLS:C1833748" -MONDO:0008149 "ICD10:Q78.0" MONDO:0008149 "MESH:C563487" MONDO:0008149 "Orphanet:216796" -MONDO:0017268 "ICD10:Q80.2" MONDO:0017268 "SCTID:718633009" MONDO:0017268 "Orphanet:281127" +MONDO:0017268 "ICD10CM:Q80.2" MONDO:0018214 "MESH:C565808" MONDO:0018214 "OMIM:604233" MONDO:0018214 "OMIM:613060" @@ -106302,41 +103638,39 @@ MONDO:0018214 "OMIM:613863" MONDO:0018214 "Orphanet:36387" MONDO:0018214 "DOID:0060170" MONDO:0018214 "UMLS:C3502809" +MONDO:0018214 "ICD10CM:G40.3" MONDO:0018214 "OMIM:616172" MONDO:0018214 "OMIM:609800" -MONDO:0018214 "ICD10:G40.3" MONDO:0018214 "SCTID:699688008" MONDO:0018214 "OMIM:611277" MONDO:0018214 "OMIM:604403" MONDO:0018214 "OMIM:612279" -MONDO:0005335 "OMIM:114500" MONDO:0005335 "NCIT:C2956" MONDO:0005335 "EFO:0004142" MONDO:0005335 "MESH:D015179" -MONDO:0016902 "ICD10:Q93.5" MONDO:0016902 "Orphanet:262019" +MONDO:0016902 "ICD10CM:Q93.5" MONDO:0004120 "UMLS:C1511051" MONDO:0004120 "NCIT:C40298" MONDO:0004120 "DOID:7140" -MONDO:0008711 "ICD10:Q87.0" MONDO:0008711 "GARD:0002549" MONDO:0008711 "SCTID:720600004" MONDO:0008711 "MESH:C537287" MONDO:0008711 "OMIM:201020" MONDO:0008711 "Orphanet:65798" +MONDO:0008711 "ICD10CM:Q87.0" HP:0000023 "SNOMEDCT_US:396232000" HP:0000023 "MSH:D006552" HP:0000023 "MEDDRA:10022016" HP:0000023 "UMLS:C0019294" MONDO:0020801 "NCIT:C60640" MONDO:0001611 "SCTID:64324003" +MONDO:0001611 "ICD10CM:H04.31" MONDO:0001611 "UMLS:C0155238" MONDO:0001611 "ICD9:375.33" -MONDO:0001611 "ICD10:H04.31" MONDO:0001611 "DOID:12997" MONDO:0007514 "Orphanet:1885" MONDO:0007514 "OMIM:129600" -MONDO:0007514 "url:https://www.ncbi.nlm.nih.gov/pubmed/15054843" MONDO:0007514 "DOID:0111150" MONDO:0007514 "UMLS:C3541518" MONDO:0100403 "NCIT:C36499" @@ -106348,8 +103682,8 @@ MONDO:0006409 "ONCOTREE:SSRCC" MONDO:0005693 "NCIT:C35436" MONDO:0005693 "DOID:11577" MONDO:0005693 "GARD:0010987" +MONDO:0005693 "ICD10CM:G83.4" MONDO:0005693 "SCTID:192970008" -MONDO:0005693 "ICD10:G83.4" MONDO:0005693 "EFO:0007196" MONDO:0005693 "ICD9:344.6" MONDO:0005693 "UMLS:C0392548" @@ -106365,8 +103699,6 @@ MONDO:0021249 "NCIT:C3191" MONDO:0021249 "SCTID:126770008" MONDO:0001110 "NCIT:C123216" MONDO:0001110 "ICD9:590.0" -MONDO:0001110 "ICD10:N11" -MONDO:0001110 "ICD10:N11.9" MONDO:0001110 "UMLS:C0085697" MONDO:0001110 "DOID:1076" MONDO:0001110 "SCTID:63302006" @@ -106375,8 +103707,8 @@ MONDO:0004291 "DOID:7585" MONDO:0004291 "NCIT:C8187" MONDO:0017697 "OMIM:232500" MONDO:0017697 "Orphanet:308655" -MONDO:0017697 "ICD10:E74.0" MONDO:0017697 "UMLS:C1856303" +MONDO:0017697 "ICD10CM:E74.0" HP:0040069 "UMLS:C4022455" HP:0040069 "UMLS:C4022457" MONDO:0012046 "OMIM:608484" @@ -106404,7 +103736,6 @@ MONDO:0013847 "GARD:0012388" MONDO:0013847 "SCTID:765142003" MONDO:0013847 "Orphanet:370079" MONDO:0013847 "UMLS:C3553407" -MONDO:0013847 "ICD10:Q92.3" MONDO:0002551 "DOID:3199" MONDO:0002551 "NCIT:C5413" MONDO:0002551 "UMLS:C1332905" @@ -106414,12 +103745,12 @@ MONDO:0010264 "GARD:0000555" MONDO:0010264 "SCTID:93235007" MONDO:0010264 "DOID:0080156" MONDO:0010264 "OMIM:202155" -MONDO:0010264 "ICD10:E27.1" +MONDO:0010264 "ICD10CM:E27.1" MONDO:0010264 "NCIT:C123725" MONDO:0010264 "Orphanet:95702" MONDO:0010264 "OMIM:300200" MONDO:0031013 "DOID:0040089" -MONDO:0011889 "ICD10:G60.0" +MONDO:0011889 "ICD10CM:G60.0" MONDO:0011889 "OMIM:607677" MONDO:0011889 "DOID:0110158" MONDO:0011889 "GARD:0009197" @@ -106436,13 +103767,13 @@ MONDO:0007052 "Orphanet:99725" MONDO:0006496 "EFO:1000631" MONDO:0006496 "Wikipedia:Palsy" MONDO:0006496 "MESH:D010243" +MONDO:0006496 "ICD10CM:G80-G83" MONDO:0005740 "UMLS:C0013533" MONDO:0005740 "EFO:0007247" MONDO:0005740 "SCTID:271532008" MONDO:0005740 "MESH:D004457" MONDO:0009482 "OMIM:244200" MONDO:0009482 "Orphanet:478" -MONDO:0009482 "ICD10:E23.0" MONDO:0009482 "UMLS:C3550478" MONDO:0009482 "GARD:0003073" MONDO:0009482 "DOID:0090092" @@ -106450,23 +103781,25 @@ MONDO:0020785 "OMIM:618196" MONDO:0014091 "UMLS:C3808899" MONDO:0014091 "OMIM:615228" MONDO:0014091 "DOID:0060333" -MONDO:0014091 "ICD10:E88.8" MONDO:0014091 "Orphanet:254913" MONDO:0010956 "OMIM:600907" MONDO:0010956 "MESH:C563430" MONDO:0010956 "UMLS:C1833163" MONDO:0010956 "GARD:0004801" MONDO:0000836 "DOID:0080010" +MONDO:0000836 "ICD10CM:M40-M43" +MONDO:0000836 "ICD10CM:M50-M54" +MONDO:0000836 "ICD10CM:M45-M49" MONDO:0011902 "MESH:C537987" +MONDO:0011902 "ICD10CM:G60.0" MONDO:0011902 "DOID:0110149" MONDO:0011902 "GARD:0009191" MONDO:0011902 "OMIM:607734" MONDO:0011902 "UMLS:C1843164" -MONDO:0011902 "ICD10:G60.0" MONDO:0011902 "SCTID:719980006" MONDO:0011902 "Orphanet:101085" -MONDO:0015089 "ICD10:G11.4" MONDO:0015089 "UMLS:CN228909" +MONDO:0015089 "ICD10CM:G11.4" MONDO:0015089 "Orphanet:100981" MONDO:0044917 "NCIT:C6919" MONDO:0044917 "EFO:1001830" @@ -106480,7 +103813,6 @@ MONDO:0016035 "UMLS:C0027577" MONDO:0016035 "NCIT:C84917" MONDO:0016035 "SCTID:43019009" MONDO:0016035 "DOID:4968" -MONDO:0016035 "ICD10:E24.1" MONDO:0016035 "MESH:D009347" MONDO:0016035 "MESH:C531754" MONDO:0016035 "MedDRA:10028913" @@ -106489,7 +103821,6 @@ MONDO:0016035 "GARD:0007170" MONDO:0017118 "Orphanet:269523" MONDO:0017118 "UMLS:CN202468" MONDO:0004981 "UMLS:C0004238" -MONDO:0004981 "OMIM:611819" MONDO:0004981 "ICD9:427.31" MONDO:0004981 "NCIT:C50466" MONDO:0004981 "DOID:0060224" @@ -106497,8 +103828,6 @@ MONDO:0004981 "SCTID:49436004" MONDO:0004981 "OMIM:615770" MONDO:0004981 "HP:0005110" MONDO:0004981 "EFO:0000275" -MONDO:0004981 "OMIM:613120" -MONDO:0004981 "ICD10:I48" NCBITaxon:28901 "PMID:15653930" NCBITaxon:28901 "GC_ID:11" NCBITaxon:28901 "PMID:10319519" @@ -106511,11 +103840,11 @@ MONDO:0010087 "DOID:0110979" MONDO:0010087 "OMIM:272150" MONDO:0011161 "OMIM:601876" HP:0003593 "UMLS:C1848924" +MONDO:8000011 "ICD10CM:K59.8" MONDO:8000011 "MESH:C537394" MONDO:8000011 "Orphanet:99811" MONDO:8000011 "OMIM:243180" MONDO:8000011 "UMLS:C1855733" -MONDO:8000011 "ICD10:K59.8" MONDO:8000011 "Orphanet:2978" MONDO:8000011 "GARD:0003969" MONDO:0001080 "DOID:10615" @@ -106523,7 +103852,7 @@ MONDO:0001080 "SCTID:20943002" MONDO:0001080 "UMLS:C0153195" MONDO:0001080 "ICD9:098.15" MONDO:0017476 "Orphanet:295049" -MONDO:0017476 "ICD10:Q74.0" +MONDO:0017476 "ICD10CM:Q74.0" MONDO:0008314 "UMLS:C1867726" MONDO:0008314 "OMIM:176800" MONDO:0008314 "MESH:C566757" @@ -106544,7 +103873,7 @@ MONDO:0009872 "EFO:0002779" MONDO:0014910 "UMLS:C4310721" MONDO:0014910 "OMIM:617092" MONDO:0014910 "DOID:0110620" -MONDO:0017305 "ICD10:E70.3" +MONDO:0017305 "ICD10CM:E70.3" MONDO:0017305 "Orphanet:284811" MONDO:0017305 "UMLS:CN227111" MONDO:0014427 "UMLS:C4014856" @@ -106562,9 +103891,9 @@ MONDO:0002482 "DOID:3003" MONDO:0002482 "NCIT:C5212" MONDO:0018878 "OMIM:602588" MONDO:0018878 "OMIM:120502" -MONDO:0018878 "ICD10:Q87.0" MONDO:0018878 "UMLS:CN205225" MONDO:0018878 "Orphanet:52429" +MONDO:0018878 "ICD10CM:Q87.0" MONDO:0018878 "GARD:0010148" MONDO:0018878 "OMIM:608389" MONDO:0018878 "DOID:0060232" @@ -106583,7 +103912,7 @@ MONDO:0009755 "UMLS:C1850380" MONDO:0030528 "OMIM:619705" MONDO:0018058 "GARD:0005233" MONDO:0018058 "UMLS:C1261567" -MONDO:0018058 "ICD10:Q32.1" +MONDO:0018058 "ICD10CM:Q32.1" MONDO:0018058 "NCIT:C35376" MONDO:0018058 "SCTID:3987009" MONDO:0018058 "Orphanet:3346" @@ -106606,22 +103935,21 @@ MONDO:0019234 "MESH:C531857" MONDO:0019234 "NCIT:C146639" MONDO:0019234 "OMIMPS:214100" MONDO:0001416 "NCIT:C4913" -MONDO:0001416 "ICD10:C51.C58" +MONDO:0001416 "ICD10CM:C51-C58" MONDO:0001416 "SCTID:126907002" MONDO:0001416 "DOID:120" MONDO:0001416 "ICD9:184" -MONDO:0001416 "ICD10:C57" MONDO:0001416 "NCIT:C3053" MONDO:0016725 "UMLS:CN201973" -MONDO:0016725 "ICD10:D44.5" +MONDO:0016725 "ICD10CM:D44.5" MONDO:0016725 "Orphanet:251919" +MONDO:0020388 "ICD10CM:Q20.1" MONDO:0020388 "Orphanet:99046" -MONDO:0020388 "ICD10:Q20.1" MONDO:0006104 "NCIT:C79950" MONDO:0006104 "EFO:1000108" MONDO:0006104 "UMLS:C2698359" MONDO:0018925 "GARD:0010768" -MONDO:0018925 "ICD10:G43.1" +MONDO:0018925 "ICD10CM:G43.1" MONDO:0018925 "OMIM:602481" MONDO:0018925 "OMIM:607516" MONDO:0018925 "Orphanet:569" @@ -106636,7 +103964,7 @@ MONDO:0009285 "Orphanet:33573" MONDO:0009285 "GARD:0010099" MONDO:0009285 "DOID:0111257" MONDO:0009285 "UMLS:C0268524" -MONDO:0009285 "ICD10:E72.8" +MONDO:0009285 "ICD10CM:E72.8" MONDO:0009285 "OMIM:231950" MONDO:0044781 "NCIT:C122797" MONDO:0044781 "SCTID:236380004" @@ -106644,8 +103972,8 @@ MONDO:0044781 "UMLS:C0403396" NCBITaxon:7776 "GC_ID:1" MONDO:0017299 "Orphanet:284460" MONDO:0015987 "MedDRA:10051951" +MONDO:0015987 "ICD10CM:Q26.8" MONDO:0015987 "UMLS:C0036400" -MONDO:0015987 "ICD10:Q26.8" MONDO:0015987 "ICD9:747.49" MONDO:0015987 "Orphanet:185" MONDO:0015987 "SCTID:39905002" @@ -106654,23 +103982,22 @@ MONDO:0015987 "NCIT:C85056" MONDO:0016933 "Orphanet:262658" MONDO:0100280 "NCIT:C80307" MONDO:0100280 "GARD:0007872" -MONDO:0100280 "ICD10:C88.0" MONDO:0100280 "OMIMPS:153600" MONDO:0100280 "Orphanet:33226" +MONDO:0100280 "ICD10CM:C88.0" MONDO:0100280 "MedDRA:10047801" MONDO:0100280 "ONCOTREE:WM" MONDO:0100280 "DOID:0060901" MONDO:0100280 "MESH:D008258" MONDO:0100280 "OMIM:610430" MONDO:0100280 "UMLS:C0024419" +NCBITaxon:666 "GC_ID:11" +NCBITaxon:666 "PMID:9272984" +NCBITaxon:666 "PMID:1015934" MONDO:0001774 "ICD9:379.07" MONDO:0001774 "DOID:13676" MONDO:0001774 "SCTID:267660007" -MONDO:0001774 "ICD10:H15.03" MONDO:0001774 "UMLS:C0155357" -NCBITaxon:666 "GC_ID:11" -NCBITaxon:666 "PMID:9272984" -NCBITaxon:666 "PMID:1015934" MONDO:0002857 "NCIT:C5736" MONDO:0002857 "DOID:4058" MONDO:0002857 "UMLS:C1333757" @@ -106684,16 +104011,15 @@ NCBITaxon:197563 "PMID:9727836" NCBITaxon:197563 "PMID:11557979" NCBITaxon:197563 "GC_ID:1" MONDO:0007369 "GARD:0006619" -MONDO:0007369 "ICD10:E80.29" MONDO:0007369 "MESH:D046349" MONDO:0007369 "NCIT:C84759" MONDO:0007369 "SCTID:7425008" -MONDO:0007369 "ICD10:E80.2" MONDO:0007369 "MedDRA:10019866" MONDO:0007369 "Orphanet:79273" MONDO:0007369 "DOID:13269" MONDO:0007369 "OMIM:121300" MONDO:0007369 "UMLS:C0162531" +MONDO:0007369 "ICD10CM:E80.2" MONDO:0003803 "UMLS:C1260873" MONDO:0003803 "ICD9:424.1" MONDO:0003803 "NCIT:C78650" @@ -106702,7 +104028,6 @@ MONDO:0003803 "ICD9:395" MONDO:0017307 "ICD9:270.2" MONDO:0017307 "Orphanet:284818" MONDO:0017307 "SCTID:37200009" -MONDO:0017307 "ICD10:E70.2" MONDO:0017307 "UMLS:CN202881" MONDO:0012907 "MESH:C567309" MONDO:0012907 "SCTID:717920004" @@ -106735,7 +104060,6 @@ MONDO:0001845 "DOID:13957" MONDO:0001845 "NCIT:C40168" MONDO:0001845 "EFO:1000614" MONDO:0002070 "SCTID:30288003" -MONDO:0002070 "ICD10:Q21.0" MONDO:0002070 "OMIM:614429" MONDO:0002070 "MESH:D006345" MONDO:0002070 "ICD9:745.4" @@ -106749,10 +104073,10 @@ MONDO:0002070 "GARD:0007853" MONDO:0002070 "Orphanet:1480" MONDO:0018770 "UMLS:C0265275" MONDO:0018770 "NCIT:C84794" -MONDO:0018770 "ICD10:Q77.2" MONDO:0018770 "OMIM:617088" MONDO:0018770 "MESH:C537571" MONDO:0018770 "OMIM:614376" +MONDO:0018770 "ICD10CM:Q77.2" MONDO:0018770 "GARD:0003049" MONDO:0018770 "OMIM:611263" MONDO:0018770 "MedDRA:10057621" @@ -106767,11 +104091,11 @@ MONDO:0018770 "Orphanet:474" MONDO:0018770 "SCTID:75049004" MONDO:0018770 "OMIM:208500" MONDO:0014397 "OMIM:615917" -MONDO:0014397 "ICD10:G31.8" MONDO:0014397 "Orphanet:420728" +MONDO:0014397 "ICD10CM:G31.8" MONDO:0014397 "UMLS:C4014660" MONDO:0014397 "DOID:0111478" -MONDO:0013143 "ICD10:D68.5" +MONDO:0013143 "ICD10CM:D68.5" MONDO:0013143 "OMIM:613116" MONDO:0013143 "Orphanet:217467" MONDO:0013143 "MESH:C567737" @@ -106780,12 +104104,11 @@ MONDO:0011831 "OMIM:607450" MONDO:0011831 "Orphanet:217656" MONDO:0011831 "MESH:C564400" MONDO:0011831 "DOID:0110076" -MONDO:0011831 "ICD10:I42.8" MONDO:0011831 "UMLS:C1843896" MONDO:0018748 "MedDRA:10024515" MONDO:0018748 "Orphanet:46488" -MONDO:0018748 "ICD10:L10.8" MONDO:0018748 "MESH:D062027" +MONDO:0018748 "ICD10CM:L10.8" MONDO:0018748 "GARD:0010960" MONDO:0018748 "SCTID:95330001" MONDO:0018748 "UMLS:C0406650" @@ -106797,11 +104120,12 @@ MONDO:0024533 "OMIM:178600" MONDO:0024533 "UMLS:C3203102" MONDO:0011011 "SCTID:715428003" MONDO:0011011 "UMLS:C0796046" +MONDO:0011011 "ICD10CM:Q87.5" MONDO:0011011 "Orphanet:1858" MONDO:0011011 "OMIM:601187" -MONDO:0011011 "ICD10:Q87.5" MONDO:0011011 "GARD:0000350" MONDO:0011011 "MESH:C537625" +MONDO:0003472 "ICD10CM:B85.2" MONDO:0003472 "UMLS:C0030756" MONDO:0003472 "NCIT:C128401" MONDO:0003472 "UMLS:C0277351" @@ -106809,18 +104133,17 @@ MONDO:0003472 "ICD9:132.9" MONDO:0003472 "UMLS:C0153317" MONDO:0003472 "MESH:D010373" MONDO:0003472 "DOID:5502" -MONDO:0003472 "ICD10:B85.2" -MONDO:0015126 "ICD10:E31.9" -MONDO:0015126 "ICD10:E31.8" -MONDO:0015126 "ICD10:E31.1" +MONDO:0015126 "ICD10CM:E31.1" +MONDO:0015126 "ICD10CM:E31.0" +MONDO:0015126 "ICD10CM:E31.9" +MONDO:0015126 "ICD10CM:E31.8" MONDO:0015126 "Orphanet:101956" -MONDO:0015126 "ICD10:E31.0" MONDO:0016200 "Orphanet:209203" MONDO:0012248 "GARD:0012535" MONDO:0012248 "NCIT:C133730" MONDO:0012248 "EFO:0009145" MONDO:0012248 "DOID:0110297" -MONDO:0012248 "ICD10:G71.0" +MONDO:0012248 "ICD10CM:G71.0" MONDO:0012248 "OMIM:609308" MONDO:0012248 "SCTID:720523006" MONDO:0012248 "Orphanet:86812" @@ -106833,7 +104156,6 @@ HP:0000119 "SNOMEDCT_US:287085006" HP:0000119 "UMLS:C0080276" MONDO:0009287 "Orphanet:364" MONDO:0009287 "UMLS:CN205860" -MONDO:0009287 "ICD10:E74.0" MONDO:0009287 "SCTID:444707001" MONDO:0009287 "GARD:0007864" MONDO:0009287 "UMLS:CN069618" @@ -106841,44 +104163,44 @@ MONDO:0009287 "MESH:C538655" MONDO:0009287 "OMIM:232200" MONDO:0009287 "UMLS:C2919796" MONDO:0009287 "Orphanet:79258" -MONDO:0015883 "ICD10:Q82.8" +MONDO:0009287 "ICD10CM:E74.0" MONDO:0015883 "GARD:0000280" MONDO:0015883 "Orphanet:1809" MONDO:0015883 "UMLS:C2930953" MONDO:0015883 "SCTID:721147000" MONDO:0015883 "MESH:C535621" +MONDO:0015883 "ICD10CM:Q82.8" HP:0000509 "UMLS:C1864156" HP:0000509 "SNOMEDCT_US:9826008" HP:0000509 "MSH:D003231" HP:0000509 "UMLS:C0009763" MONDO:0032872 "OMIM:618695" MONDO:0015462 "MESH:C537595" +MONDO:0015462 "ICD10CM:Q87.5" MONDO:0015462 "UMLS:C2931543" MONDO:0015462 "Orphanet:1506" -MONDO:0015462 "ICD10:Q87.5" +MONDO:0020017 "Orphanet:98036" +MONDO:0020017 "UMLS:CN206950" MONDO:0001019 "DOID:10375" MONDO:0001019 "UMLS:C0750903" MONDO:0001019 "ICD9:368.01" -MONDO:0001019 "ICD10:H53.03" MONDO:0001019 "SCTID:35600002" -MONDO:0020017 "Orphanet:98036" -MONDO:0020017 "UMLS:CN206950" MONDO:0002577 "UMLS:C2064434" MONDO:0002577 "NCIT:C5860" MONDO:0002577 "DOID:3254" MONDO:0022575 "GARD:0008383" MONDO:0007724 "Orphanet:2156" -MONDO:0007724 "ICD10:Q87.8" MONDO:0007724 "MESH:C536705" +MONDO:0007724 "ICD10CM:Q87.8" MONDO:0007724 "GARD:0005566" MONDO:0007724 "UMLS:C0795976" MONDO:0007724 "OMIM:142625" MONDO:0032717 "DOID:0111722" MONDO:0032717 "OMIM:618386" +MONDO:0011489 "ICD10CM:G11.4" MONDO:0011489 "Orphanet:100993" MONDO:0011489 "UMLS:C1858106" MONDO:0011489 "GARD:0009586" -MONDO:0011489 "ICD10:G11.4" MONDO:0011489 "OMIM:604805" MONDO:0011489 "DOID:0110765" MONDO:0011489 "SCTID:763374004" @@ -106891,22 +104213,20 @@ MONDO:0013689 "DOID:0080495" MONDO:0013689 "UMLS:C3280471" MONDO:0013689 "Orphanet:243" MONDO:0013689 "OMIM:614324" -MONDO:0008963 "ICD10:E70.3" +MONDO:0008963 "ICD10CM:E70.330" +MONDO:0008963 "ICD10CM:E70.3" MONDO:0008963 "DOID:2935" -MONDO:0008963 "ICD10:D72.0" MONDO:0008963 "GARD:0006035" MONDO:0008963 "UMLS:C0007965" MONDO:0008963 "SCTID:111396008" MONDO:0008963 "OMIM:214500" MONDO:0008963 "MESH:D002609" -MONDO:0008963 "ICD10:E70.330" MONDO:0008963 "MedDRA:10008415" MONDO:0008963 "Orphanet:167" MONDO:0008963 "NCIT:C2941" MONDO:0009474 "OMIM:243450" MONDO:0006965 "DOID:10393" MONDO:0006965 "SCTID:203357004" -MONDO:0006965 "ICD10:M89.4" MONDO:0006965 "EFO:1001174" MONDO:0006965 "MESH:D010005" MONDO:0006965 "ICD9:731.2" @@ -106916,10 +104236,10 @@ MONDO:0032904 "OMIM:618767" HP:0003398 "UMLS:C4025618" HP:0003398 "UMLS:C4020842" MONDO:0008180 "Orphanet:2291" -MONDO:0008180 "ICD10:J39.2" MONDO:0008180 "MESH:D014681" MONDO:0008180 "GARD:0005470" MONDO:0008180 "UMLS:C0042454" +MONDO:0008180 "ICD10CM:J39.2" MONDO:0008180 "OMIM:167500" MONDO:0100037 "GARD:0007401" MONDO:0001418 "DOID:12002" @@ -106940,7 +104260,6 @@ MONDO:0018223 "ICD10CM:D47.9" MONDO:0018223 "DOID:0070324" MONDO:0018223 "SCTID:721311006" MONDO:0018223 "ICDO:9724/3" -MONDO:0018223 "ICD10:D47.9" MONDO:0018223 "UMLS:CN204753" MONDO:0012706 "MESH:C566902" MONDO:0012706 "OMIM:611631" @@ -106984,18 +104303,18 @@ MONDO:0002859 "DOID:4060" MONDO:0002859 "NCIT:C5190" MONDO:0012821 "OMIM:612230" MONDO:0019898 "Orphanet:96150" -MONDO:0019898 "ICD10:Q93.5" +MONDO:0019898 "ICD10CM:Q93.5" MONDO:0015011 "OMIM:617302" MONDO:0015011 "UMLS:C4310628" MONDO:0015011 "DOID:0111436" MONDO:0015011 "UMLS:CN230145" +MONDO:0008345 "ICD10CM:J84.1" MONDO:0008345 "NCIT:C35716" MONDO:0008345 "DOID:0050156" MONDO:0008345 "OMIM:178500" MONDO:0008345 "EFO:0000768" MONDO:0008345 "OMIM:616371" -MONDO:0008345 "ICD10:J84.1" -MONDO:0008345 "ICD10:J84.112" +MONDO:0008345 "ICD10CM:J84.112" MONDO:0008345 "Orphanet:2032" MONDO:0008345 "SCTID:196125002" MONDO:0008345 "GARD:0008609" @@ -107021,60 +104340,55 @@ MONDO:0005836 "DOID:3856" MONDO:0005836 "EFO:0007355" MONDO:0005836 "ICD9:187.8" MONDO:0005836 "MESH:D005834" -MONDO:0005836 "ICD10:C63.9" MONDO:0005836 "NCIT:C3054" MONDO:0005836 "ICD9:187.9" MONDO:0005836 "SCTID:126895004" -MONDO:0005836 "ICD10:C60-C63" MONDO:0015315 "UMLS:CN199283" MONDO:0015315 "Orphanet:137929" MONDO:0022908 "GARD:0001635" MONDO:0001847 "DOID:13963" MONDO:0001847 "ICD9:366.16" MONDO:0001847 "SCTID:193589009" +MONDO:0017515 "ICD10CM:Q71.8" MONDO:0017515 "Orphanet:295128" -MONDO:0017515 "ICD10:Q71.8" MONDO:0033862 "Orphanet:522037" +MONDO:0016452 "ICD10CM:G47.12" MONDO:0016452 "SCTID:442292004" MONDO:0016452 "Orphanet:228318" -MONDO:0016452 "ICD10:G47.12" MONDO:0016452 "ICD9:327.12" -MONDO:0016452 "ICD10:F51.1" +MONDO:0016452 "ICD10CM:F51.1" MONDO:0016452 "UMLS:C1561855" +MONDO:0002009 "MESH:D003866" +MONDO:0002009 "NCIT:C35094" +MONDO:0002009 "OMIM:608516" +MONDO:0002009 "SCTID:300706003" MONDO:0002009 "DOID:1595" +MONDO:0002009 "ICD9:296.30" +MONDO:0002009 "ICD9:296.20" +MONDO:0002009 "ICD10CM:F32" +MONDO:0002009 "OMIM:608691" +MONDO:0002009 "NCIT:C34796" +MONDO:0002009 "ICD9:296.2" +MONDO:0002009 "MESH:D003865" MONDO:0002009 "OMIM:608520" -MONDO:0002009 "OMIM:608516" +MONDO:0002009 "ICD9:296.3" MONDO:0002009 "MFOMD:0000143" -MONDO:0002009 "EFO:0003761" +MONDO:0002009 "SCTID:370143000" MONDO:0002009 "DOID:2848" -MONDO:0002009 "NCIT:C34796" MONDO:0002009 "DOID:1470" -MONDO:0002009 "ICD10:F32" -MONDO:0002009 "SCTID:370143000" -MONDO:0002009 "ICD10:F33" MONDO:0002009 "SCTID:35489007" -MONDO:0002009 "MESH:D003865" -MONDO:0002009 "ICD10:F32.9" -MONDO:0002009 "ICD10:F33.9" -MONDO:0002009 "NCIT:C35094" -MONDO:0002009 "MESH:D003866" -MONDO:0002009 "ICD9:296.20" -MONDO:0002009 "ICD9:296.2" -MONDO:0002009 "SCTID:300706003" -MONDO:0002009 "ICD9:296.3" -MONDO:0002009 "OMIM:608691" -MONDO:0002009 "ICD9:296.30" +MONDO:0002009 "EFO:0003761" +MONDO:0014773 "ICD10CM:Q87.8" MONDO:0014773 "Orphanet:369891" MONDO:0014773 "HGNC:22962" MONDO:0014773 "OMIM:616789" -MONDO:0014773 "ICD10:Q87.8" MONDO:0014773 "GARD:0012999" MONDO:0014773 "UMLS:C4225208" MONDO:0001293 "UMLS:C0153485" MONDO:0001293 "NCIT:C3546" -MONDO:0001293 "ICD10:C32.2" MONDO:0001293 "DOID:11472" MONDO:0001293 "ICD9:161.2" +MONDO:0001293 "ICD10CM:C32.2" MONDO:0001293 "SCTID:363430007" NCBITaxon:1897064 "GC_ID:1" HP:0001792 "UMLS:C0263523" @@ -107094,29 +104408,29 @@ MONDO:0018631 "UMLS:C2931059" MONDO:0018631 "Orphanet:444" MONDO:0018631 "OMIM:146550" MONDO:0018631 "MESH:C535912" -MONDO:0018631 "ICD10:Q84.0" MONDO:0018631 "OMIM:612841" MONDO:0018631 "GARD:0003390" -MONDO:0008742 "ICD10:D70" +MONDO:0018631 "ICD10CM:Q84.0" MONDO:0008742 "OMIM:257100" MONDO:0008742 "OMIM:202700" MONDO:0008742 "Orphanet:486" MONDO:0008742 "OMIM:613107" MONDO:0008742 "GARD:0009558" MONDO:0008742 "UMLS:C1859966" +MONDO:0008742 "ICD10CM:D70" HP:0000572 "UMLS:C3665386" HP:0000572 "SNOMEDCT_US:7973008" MONDO:0017173 "Orphanet:276234" MONDO:0017173 "OMIM:612997" MONDO:0017173 "UMLS:CN202602" MONDO:0017173 "OMIM:614822" -MONDO:0017173 "ICD10:N46" +MONDO:0017173 "ICD10CM:N46" MONDO:0017173 "OMIM:606766" MONDO:0026763 "OMIM:301043" MONDO:0016756 "UMLS:CN202004" MONDO:0016756 "Orphanet:252190" MONDO:0017830 "UMLS:CN203803" -MONDO:0017830 "ICD10:E75.2" +MONDO:0017830 "ICD10CM:E75.2" MONDO:0017830 "Orphanet:314911" MONDO:0000227 "SCTID:415561000" MONDO:0000227 "UMLS:C1320317" @@ -107131,34 +104445,34 @@ MONDO:0012413 "Orphanet:178364" MONDO:0012413 "OMIM:610125" MONDO:0012413 "UMLS:C4305151" MONDO:0012413 "UMLS:C1864690" +MONDO:0012413 "ICD10CM:Q11.2" MONDO:0012413 "SCTID:718761007" MONDO:0012413 "MESH:C566441" -MONDO:0012413 "ICD10:Q11.2" MONDO:0012413 "GARD:0003692" MONDO:0017360 "SCTID:237945003" MONDO:0017360 "Orphanet:289916" +MONDO:0017360 "ICD10CM:E71.1" MONDO:0017360 "OMIM:251000" MONDO:0017360 "UMLS:CN203025" -MONDO:0017360 "ICD10:E71.1" MONDO:0017360 "UMLS:C1855114" MONDO:0002356 "MESH:D010182" +MONDO:0002356 "ICD10CM:K80-K87" MONDO:0002356 "NCIT:C26842" MONDO:0002356 "ICD9:577.9" MONDO:0002356 "SCTID:3855007" MONDO:0002356 "DOID:26" MONDO:0002356 "ICD9:577.8" -MONDO:0002356 "ICD10:K86.8" MONDO:0019945 "MedDRA:10041307" +MONDO:0019945 "ICD10CM:L56.3" MONDO:0019945 "Orphanet:97230" -MONDO:0019945 "ICD10:L56.3" MONDO:0019945 "ICD9:708.8" MONDO:0019945 "SCTID:10347006" MONDO:0019945 "UMLS:C0263610" MONDO:0018002 "Orphanet:329336" MONDO:0018002 "UMLS:C4511138" MONDO:0018002 "SCTID:725464001" -MONDO:0018002 "ICD10:G71.3" MONDO:0018002 "OMIM:616479" +MONDO:0018002 "ICD10CM:G71.3" MONDO:0006098 "ICD9:610.8" MONDO:0006098 "NCIT:C4730" MONDO:0006098 "EFO:1000100" @@ -107169,19 +104483,20 @@ MONDO:0004786 "SCTID:71912000" MONDO:0004786 "NCIT:C35335" MONDO:0004786 "DOID:9439" MONDO:0014061 "Orphanet:438117" -MONDO:0014061 "ICD10:Q87.5" +MONDO:0014061 "ICD10CM:Q87.5" MONDO:0014061 "UMLS:C3554594" MONDO:0014061 "OMIM:615155" +MONDO:0011675 "ICD10CM:G60.0" MONDO:0011675 "DOID:0110202" MONDO:0011675 "UMLS:C1847896" MONDO:0011675 "MESH:C564702" -MONDO:0011675 "ICD10:G60.0" MONDO:0011675 "OMIM:606483" MONDO:0011675 "GARD:0012437" MONDO:0011675 "SCTID:765744006" MONDO:0011675 "Orphanet:100043" -MONDO:0010421 "GARD:0001033" MONDO:0010421 "DOID:14179" +MONDO:0010421 "GARD:0001033" +MONDO:0010421 "ICD10CM:D80.0" MONDO:0010421 "OMIM:300310" MONDO:0010421 "OMIM:300755" MONDO:0010421 "UMLS:C0221026" @@ -107190,7 +104505,6 @@ MONDO:0010421 "MESH:C537409" MONDO:0010421 "Orphanet:229717" MONDO:0010421 "NCIT:C3822" MONDO:0010421 "MedDRA:10060360" -MONDO:0010421 "ICD10:D80.0" MONDO:0010421 "Orphanet:47" MONDO:0001668 "SCTID:52994003" MONDO:0001668 "DOID:13239" @@ -107204,67 +104518,66 @@ MONDO:0043475 "NCIT:C79765" FOODON:00001184 "SUBSET_SIREN:F10419" MONDO:0013854 "OMIM:614679" MONDO:0013854 "UMLS:C3542550" -MONDO:0013854 "ICD10:Q34.8" MONDO:0013854 "DOID:0110621" MONDO:0012600 "OMIM:611015" MONDO:0021437 "NCIT:C5258" MONDO:0021437 "SCTID:695751021000132104" MONDO:0021437 "UMLS:C1333777" -MONDO:0016044 "ICD9:749.20" +MONDO:0016044 "OMIM:600625" +MONDO:0016044 "OMIM:608371" +MONDO:0016044 "OMIM:610361" +MONDO:0016044 "ICD10CM:Q37.0" +MONDO:0016044 "ICD10CM:Q37.5" +MONDO:0016044 "Orphanet:199306" MONDO:0016044 "OMIM:616788" +MONDO:0016044 "OMIM:612858" +MONDO:0016044 "OMIM:129400" +MONDO:0016044 "ICD10CM:Q37.3" +MONDO:0016044 "OMIM:602966" +MONDO:0016044 "ICD10CM:Q37.8" +MONDO:0016044 "OMIM:119530" +MONDO:0016044 "OMIM:613705" MONDO:0016044 "MedDRA:10009260" -MONDO:0016044 "SCTID:66948001" -MONDO:0016044 "ICD9:749.25" -MONDO:0016044 "ICD10:Q37.9" -MONDO:0016044 "ICD10:Q37.2" +MONDO:0016044 "ICD10CM:Q37.2" MONDO:0016044 "OMIM:600757" -MONDO:0016044 "ICD10:Q37.4" -MONDO:0016044 "OMIM:613705" -MONDO:0016044 "OMIM:119530" -MONDO:0016044 "ICD10:Q37.8" -MONDO:0016044 "OMIM:602966" -MONDO:0016044 "ICD10:Q37.1" -MONDO:0016044 "ICD10:Q37.3" -MONDO:0016044 "OMIM:610361" -MONDO:0016044 "ICD10:Q37.5" -MONDO:0016044 "OMIM:600625" +MONDO:0016044 "SCTID:66948001" +MONDO:0016044 "OMIM:608864" +MONDO:0016044 "ICD10CM:Q37.9" MONDO:0016044 "OMIM:608874" -MONDO:0016044 "OMIM:608371" -MONDO:0016044 "ICD10:Q37.0" -MONDO:0016044 "OMIM:129400" +MONDO:0016044 "ICD9:749.25" +MONDO:0016044 "ICD10CM:Q37.4" +MONDO:0016044 "ICD10CM:Q35-Q37" +MONDO:0016044 "ICD10CM:Q37.1" MONDO:0016044 "OMIM:225060" -MONDO:0016044 "OMIM:608864" -MONDO:0016044 "Orphanet:199306" -MONDO:0016044 "OMIM:612858" +MONDO:0016044 "ICD9:749.20" MONDO:0010527 "OMIM:301590" +MONDO:0011862 "ICD10CM:G11.4" MONDO:0011862 "UMLS:C1843569" MONDO:0011862 "MESH:C564375" MONDO:0011862 "DOID:0110775" MONDO:0011862 "Orphanet:101004" MONDO:0011862 "OMIM:607584" MONDO:0011862 "GARD:0009296" -MONDO:0011862 "ICD10:G11.4" MONDO:0006826 "SCTID:58262005" -MONDO:0006826 "ICD10:E40" MONDO:0006826 "MedDRA:10023504" MONDO:0006826 "ICD9:260" MONDO:0006826 "EFO:1001009" MONDO:0006826 "UMLS:C0022806" +MONDO:0006826 "ICD10CM:E40" MONDO:0006826 "MESH:D007732" MONDO:0006826 "DOID:13579" MONDO:0044877 "NCIT:C4685" MONDO:0010642 "OMIM:308950" MONDO:0010642 "Orphanet:510" MONDO:0017446 "Orphanet:294986" -MONDO:0017446 "ICD10:Q72.3" MONDO:0017446 "SCTID:371197005" MONDO:0015285 "OMIM:608837" MONDO:0015285 "UMLS:C0406810" MONDO:0015285 "Orphanet:1359" +MONDO:0015285 "ICD10CM:D44.8" MONDO:0015285 "SCTID:733491005" MONDO:0015285 "GARD:0001119" MONDO:0015285 "OMIM:605244" -MONDO:0015285 "ICD10:D44.8" MONDO:0015285 "NCIT:C4705" MONDO:0015285 "OMIM:160980" MONDO:0015285 "MESH:D056733" @@ -107274,20 +104587,17 @@ MONDO:0016231 "SCTID:234118009" MONDO:0016231 "Orphanet:211247" MONDO:0019748 "UMLS:CN227685" MONDO:0019748 "Orphanet:93618" +NCBITaxon:422676 "GC_ID:1" MONDO:0002155 "GARD:0000030" -MONDO:0002155 "ICD10:K81.9" MONDO:0002155 "ICD9:575.11" MONDO:0002155 "OMIM:600803" MONDO:0002155 "NCIT:C34465" MONDO:0002155 "SCTID:20824003" MONDO:0002155 "ICD9:575.10" MONDO:0002155 "DOID:1949" -MONDO:0002155 "ICD10:K81" MONDO:0002155 "MESH:D002764" -NCBITaxon:422676 "GC_ID:1" MONDO:0007430 "SCTID:63691004" MONDO:0007430 "OMIM:125280" -MONDO:0010948 "ICD10:Q12.0" MONDO:0010948 "Orphanet:98985" MONDO:0010948 "DOID:0110258" MONDO:0010948 "Orphanet:91492" @@ -107295,35 +104605,33 @@ MONDO:0010948 "MESH:C563435" MONDO:0010948 "OMIM:600881" MONDO:0010948 "UMLS:C1833229" MONDO:0010948 "Orphanet:98995" -MONDO:0016687 "ICD10:C71.9" MONDO:0016687 "Orphanet:251598" MONDO:0016687 "NCIT:C4320" MONDO:0016687 "DOID:7008" +MONDO:0016687 "ICD10CM:C71.9" MONDO:0016687 "UMLS:C0334580" MONDO:0016687 "MESH:D001254" MONDO:0016687 "ICDO:9410/3" MONDO:0032748 "OMIM:618433" MONDO:0018887 "Orphanet:535" MONDO:0019420 "SCTID:719011002" +MONDO:0019420 "ICD10CM:Q87.8" MONDO:0019420 "Orphanet:85322" MONDO:0019420 "UMLS:CN206176" -MONDO:0019420 "ICD10:Q87.8" -MONDO:0012594 "ICD10:D84.1" MONDO:0012594 "MESH:C572568" MONDO:0012594 "DOID:0050419" MONDO:0012594 "OMIM:610984" MONDO:0012594 "Orphanet:200418" MONDO:0012594 "UMLS:C3463916" +MONDO:0012594 "ICD10CM:D84.1" MONDO:0014447 "DOID:0110141" MONDO:0014447 "OMIM:615996" -MONDO:0014447 "ICD10:Q87.89" MONDO:0014447 "UMLS:C3889475" MONDO:0004261 "DOID:7520" MONDO:0004261 "NCIT:C40388" MONDO:0004261 "UMLS:C1518974" MONDO:0001919 "ICD9:362.53" MONDO:0001919 "UMLS:C0154850" -MONDO:0001919 "ICD10:H35.35" MONDO:0001919 "DOID:14245" MONDO:0001919 "SCTID:14046000" MONDO:0014623 "OMIM:616402" @@ -107340,8 +104648,8 @@ MONDO:0013403 "UMLS:C3151057" MONDO:0013403 "Orphanet:450" MONDO:0030856 "OMIM:619124" MONDO:0011107 "Orphanet:1573" -MONDO:0011107 "ICD10:Q84.0" MONDO:0011107 "OMIM:601553" +MONDO:0011107 "ICD10CM:Q84.0" MONDO:0011107 "MESH:C537698" MONDO:0011107 "UMLS:C1832162" MONDO:0011107 "GARD:0003066" @@ -107354,16 +104662,15 @@ MONDO:0012665 "Orphanet:217052" MONDO:0012665 "OMIM:611391" MONDO:0012665 "Orphanet:217046" MONDO:0012665 "UMLS:C3808107" -MONDO:0012665 "ICD10:Q12.0" MONDO:0012665 "MESH:C566955" MONDO:0018919 "NCIT:C48627" MONDO:0018919 "DOID:1858" MONDO:0018919 "UMLS:C0242292" +MONDO:0018919 "ICD10CM:Q78.1" MONDO:0018919 "MESH:D005357" MONDO:0018919 "SCTID:726029005" MONDO:0018919 "UMLS:C0016065" MONDO:0018919 "Orphanet:562" -MONDO:0018919 "ICD10:Q78.1" MONDO:0018919 "OMIM:174800" MONDO:0018919 "GARD:0006995" MONDO:0034186 "Orphanet:562538" @@ -107371,30 +104678,28 @@ MONDO:0005531 "DOID:2560" MONDO:0005531 "EFO:0005612" MONDO:0005531 "SCTID:231479000" MONDO:0005531 "MESH:D009021" +NCBITaxon:28568 "GC_ID:1" MONDO:0000229 "DOID:0050042" MONDO:0000229 "Orphanet:101335" -NCBITaxon:28568 "GC_ID:1" MONDO:0019078 "GARD:0005666" MONDO:0019078 "OMIMPS:220210" MONDO:0019078 "Orphanet:7" MONDO:0019078 "OMIM:300963" MONDO:0019078 "SCTID:718556007" MONDO:0019078 "MESH:C535313" -MONDO:0019078 "ICD10:Q87.8" +MONDO:0019078 "ICD10CM:Q87.8" MONDO:0019078 "OMIM:220210" MONDO:0019078 "DOID:0060565" MONDO:0019078 "UMLS:C0796137" MONDO:0015979 "Orphanet:183710" -MONDO:0015979 "ICD10:D84.8" -MONDO:0002429 "ICD10:J84.114" +MONDO:0015979 "ICD10CM:D84.8" MONDO:0002429 "Orphanet:98300" MONDO:0002429 "MESH:D054988" MONDO:0002429 "SCTID:196125002" +MONDO:0002429 "ICD10CM:J84.112" MONDO:0002429 "DOID:2797" -MONDO:0002429 "ICD10:J84.11" MONDO:0002429 "NCIT:C35714" MONDO:0002429 "SCTID:700249006" -MONDO:0002429 "ICD10:J84.112" MONDO:0002429 "UMLS:C2350236" MONDO:0002429 "SCTID:236302005" HP:0001824 "SNOMEDCT_US:262285001" @@ -107435,10 +104740,10 @@ MONDO:0006605 "MESH:D012536" MONDO:0006605 "SCTID:402694007" MONDO:0006605 "EFO:1000761" MONDO:0006605 "UMLS:C0036271" -MONDO:0020429 "ICD10:Q24.2" MONDO:0020429 "SCTID:274947007" MONDO:0020429 "ICD9:746.89" MONDO:0020429 "Orphanet:99098" +MONDO:0020429 "ICD10CM:Q24.2" MONDO:0020429 "HP:0011566" MONDO:0020429 "GARD:0012483" MONDO:0015651 "UMLS:CN200062" @@ -107465,7 +104770,7 @@ MONDO:0005030 "ICD9:764.96" NCBITaxon:6752 "GC_ID:1" MONDO:0018436 "Orphanet:402023" MONDO:0018436 "SCTID:763796007" -MONDO:0018436 "ICD10:C94.2" +MONDO:0018436 "ICD10CM:C94.2" MONDO:0008547 "Orphanet:2655" MONDO:0008547 "UMLS:C1300257" MONDO:0008547 "UMLS:CN206542" @@ -107473,32 +104778,32 @@ MONDO:0008547 "OMIM:156830" MONDO:0008547 "SCTID:389158007" MONDO:0008547 "OMIM:187601" MONDO:0008547 "ICD9:742.59" -MONDO:0008547 "ICD10:Q77.1" MONDO:0008547 "MESH:C536508" MONDO:0008547 "GARD:0001402" MONDO:0008547 "NCIT:C98584" MONDO:0008547 "Orphanet:93274" +MONDO:0008547 "ICD10CM:Q77.1" CL:1001052 "KUPO:0001084" +MONDO:0025085 "MESH:D006524" +MONDO:0014039 "ICD10CM:G71.3" MONDO:0014039 "DOID:0080129" MONDO:0014039 "OMIM:615084" MONDO:0014039 "UMLS:C3554462" MONDO:0014039 "Orphanet:352447" -MONDO:0014039 "ICD10:G71.3" -MONDO:0025085 "MESH:D006524" -MONDO:0001447 "HP:0025488" -MONDO:0001447 "SCTID:236655005" -MONDO:0001447 "DOID:12145" -MONDO:0001447 "UMLS:C0341747" -MONDO:0001447 "ICD9:596.55" MONDO:0009660 "GARD:0003786" -MONDO:0009660 "ICD10:E76.2" MONDO:0009660 "NCIT:C84902" MONDO:0009660 "Orphanet:582" MONDO:0009660 "DOID:0111392" MONDO:0009660 "OMIM:253010" MONDO:0009660 "Orphanet:309310" MONDO:0009660 "UMLS:C0086652" +MONDO:0009660 "ICD10CM:E76.2" MONDO:0009660 "SCTID:238044004" +MONDO:0001447 "HP:0025488" +MONDO:0001447 "SCTID:236655005" +MONDO:0001447 "DOID:12145" +MONDO:0001447 "UMLS:C0341747" +MONDO:0001447 "ICD9:596.55" MONDO:0004647 "SCTID:109355002" MONDO:0004647 "UMLS:C0007099" MONDO:0004647 "ICD9:234.8" @@ -107506,15 +104811,15 @@ MONDO:0004647 "ICD9:234.9" MONDO:0004647 "ICD9:230-234.99" MONDO:0004647 "NCIT:C2917" MONDO:0004647 "MESH:D002278" -MONDO:0004647 "ICD10:D09.9" +MONDO:0004647 "ICD10CM:D00-D09" MONDO:0004647 "ICDO:8010/2" MONDO:0004647 "DOID:8719" MONDO:0013152 "OMIM:613145" MONDO:0014389 "OMIM:615895" MONDO:0014389 "Orphanet:397937" +MONDO:0014389 "ICD10CM:E74.0" MONDO:0014389 "Orphanet:329173" MONDO:0014389 "UMLS:C4014605" -MONDO:0014389 "ICD10:E74.0" MONDO:0020616 "OMIM:111300" MONDO:0015181 "Orphanet:104006" NCBITaxon:715340 "GC_ID:1" @@ -107536,32 +104841,31 @@ MONDO:0010057 "UMLS:C1849102" MONDO:0010057 "GARD:0009646" MONDO:0010057 "OMIM:271200" MONDO:0012257 "UMLS:C1836287" -MONDO:0012257 "ICD10:Q87.8" +MONDO:0012257 "ICD10CM:Q87.8" MONDO:0012257 "MESH:C563731" MONDO:0012257 "OMIM:609345" MONDO:0012257 "Orphanet:1396" MONDO:0011003 "Orphanet:154" -MONDO:0011003 "ICD10:I42.0" MONDO:0011003 "GARD:0005644" MONDO:0011003 "UMLS:C1832680" MONDO:0011003 "MESH:C563384" +MONDO:0011003 "ICD10CM:I42.0" MONDO:0011003 "DOID:0110433" MONDO:0011003 "OMIM:601154" +MONDO:0014226 "ICD10CM:D72.8" MONDO:0014226 "SCTID:763713000" MONDO:0014226 "UMLS:C3809768" MONDO:0014226 "OMIM:615518" MONDO:0014226 "Orphanet:228000" MONDO:0014226 "GARD:0012375" -MONDO:0014226 "ICD10:D72.8" MONDO:0003962 "SCTID:62999006" -MONDO:0003962 "ICD10:E23.6" MONDO:0003962 "NCIT:C34625" MONDO:0003962 "DOID:6676" MONDO:0003962 "MESH:D007027" MONDO:0003962 "GARD:0006463" MONDO:0003962 "ICD9:253.8" -MONDO:0005251 "ICD10:M08.4" MONDO:0005251 "EFO:0003114" +MONDO:0005251 "ICD10CM:M08.4" MONDO:0005251 "ICD9:714.32" MONDO:0005251 "SCTID:74391003" MONDO:0002909 "UMLS:C0020456" @@ -107569,10 +104873,9 @@ MONDO:0002909 "ICD9:790.6" MONDO:0002909 "MESH:D006943" MONDO:0002909 "SCTID:80394007" MONDO:0002909 "DOID:4195" -MONDO:0002909 "ICD10:R73.9" MONDO:0002909 "NCIT:C26797" MONDO:0008768 "GARD:0006845" -MONDO:0008768 "ICD10:E75.4" +MONDO:0008768 "ICD10CM:E75.4" MONDO:0008768 "Orphanet:79262" MONDO:0008768 "OMIM:204300" MONDO:0008768 "UMLS:C0022797" @@ -107584,23 +104887,22 @@ CL:0002064 "FMA:63032" HP:0030347 "UMLS:C4072892" MONDO:0032864 "OMIM:618672" MONDO:0015454 "UMLS:C0026755" -MONDO:0015454 "ICD10:D81.819" MONDO:0015454 "MedDRA:10028176" MONDO:0015454 "DOID:857" MONDO:0015454 "Orphanet:148" +MONDO:0015454 "ICD10CM:D81.819" MONDO:0015454 "MESH:D009100" -MONDO:0015454 "ICD10:D81.81" -MONDO:0015454 "ICD10:E53.8" +MONDO:0015454 "ICD10CM:E53.8" MONDO:0015454 "GARD:0003824" MONDO:0013659 "UMLS:C3280296" MONDO:0013659 "SCTID:703369003" MONDO:0013659 "OMIM:614261" MONDO:0013659 "Orphanet:294016" -MONDO:0013659 "ICD10:Q87.8" +MONDO:0013659 "ICD10CM:Q87.8" MONDO:0013659 "ICD9:759.89" MONDO:0024377 "SCTID:28011000119104" -MONDO:0024377 "ICD10:G47.21" MONDO:0024377 "UMLS:C0393770" +MONDO:0024377 "ICD10CM:G47.21" MONDO:0024377 "SCTID:80623000" MONDO:0024377 "DOID:0111141" MONDO:0011498 "OMIM:604906" @@ -107609,8 +104911,6 @@ MONDO:0011498 "DOID:0070085" MONDO:0000750 "SCTID:299709002" MONDO:0000750 "DOID:0060324" MONDO:0000750 "UMLS:C0518988" -MONDO:0000750 "ICD10:K04.6" -MONDO:0012444 "ICD10:G23.0" MONDO:0012444 "Orphanet:35069" MONDO:0012444 "DOID:0110736" MONDO:0012444 "GARD:0010688" @@ -107618,12 +104918,12 @@ MONDO:0012444 "OMIM:610217" MONDO:0007408 "OMIM:123557" MONDO:0007408 "MESH:C565140" MONDO:0007408 "UMLS:C1852455" -MONDO:0006692 "ICD10:G37.2" MONDO:0006692 "MESH:D017590" MONDO:0006692 "SCTID:6807001" MONDO:0006692 "NCIT:C84623" MONDO:0006692 "UMLS:C0206083" MONDO:0006692 "MedDRA:10007968" +MONDO:0006692 "ICD10CM:G37.2" MONDO:0006692 "EFO:1000857" MONDO:0006692 "GARD:0008749" MONDO:0006692 "DOID:636" @@ -107632,16 +104932,16 @@ MONDO:0021490 "NCIT:C8525" MONDO:0021490 "UMLS:C0684358" MONDO:0021490 "SCTID:92337009" MONDO:0018028 "SCTID:766755003" -MONDO:0018028 "ICD10:Q99.8" +MONDO:0018028 "ICD10CM:Q99.8" MONDO:0018028 "Orphanet:3309" MONDO:0020293 "Orphanet:98725" -MONDO:0020293 "ICD10:Q25.4" +MONDO:0020293 "ICD10CM:Q25.4" MONDO:0007920 "GARD:3324" MONDO:0007920 "Orphanet:90186" MONDO:0007920 "OMIM:153200" +MONDO:0007920 "ICD10CM:Q82.0" MONDO:0007920 "MedDRA:10027138" MONDO:0007920 "SCTID:400040008" -MONDO:0007920 "ICD10:Q82.0" MONDO:0007920 "MESH:C562467" MONDO:0007920 "GARD:0003324" MONDO:0007920 "DOID:0070213" @@ -107670,13 +104970,13 @@ MONDO:0011109 "OMIM:601560" MONDO:0011109 "SCTID:768935003" MONDO:0011109 "Orphanet:166016" MONDO:0011109 "MESH:C563291" -MONDO:0011109 "ICD10:Q78.8" +MONDO:0011109 "ICD10CM:Q78.8" MONDO:0011109 "UMLS:C1832112" MONDO:0017269 "MedDRA:10048063" MONDO:0017269 "Orphanet:281210" -MONDO:0016641 "ICD10:Q87.2" MONDO:0016641 "UMLS:C2931047" MONDO:0016641 "MESH:C535856" +MONDO:0016641 "ICD10CM:Q87.2" MONDO:0016641 "Orphanet:2492" MONDO:0007274 "OMIM:115400" MONDO:0007274 "UMLS:C1861847" @@ -107685,17 +104985,17 @@ MONDO:0018215 "Orphanet:36388" MONDO:0018215 "SCTID:192877007" MONDO:0018215 "MedDRA:10072106" MONDO:0018215 "GARD:0007326" +MONDO:0020480 "ICD10CM:E72.1" MONDO:0020480 "Orphanet:99732" MONDO:0020480 "OMIM:252150" MONDO:0020480 "OMIM:615501" MONDO:0020480 "OMIM:252160" MONDO:0020480 "OMIMPS:252150" -MONDO:0020480 "ICD10:E72.1" MONDO:0020480 "DOID:0111165" MONDO:0020480 "GARD:0003705" +MONDO:0016903 "ICD10CM:Q93.5" MONDO:0016903 "GARD:0001340" MONDO:0016903 "MESH:C537639" -MONDO:0016903 "ICD10:Q93.5" MONDO:0016903 "Orphanet:262029" MONDO:0003682 "DOID:5862" MONDO:0003682 "NCIT:C8778" @@ -107703,10 +105003,10 @@ MONDO:0003682 "UMLS:C0855011" MONDO:0011888 "OMIM:607676" MONDO:0011888 "MESH:C563662" MONDO:0011888 "GARD:0010311" +MONDO:0011888 "ICD10CM:D84.8" MONDO:0011888 "Orphanet:70592" MONDO:0011888 "UMLS:C1835828" MONDO:0011888 "UMLS:C1843256" -MONDO:0011888 "ICD10:D84.8" MONDO:0011888 "MESH:C564352" HP:0100699 "SNOMEDCT_US:48677004" HP:0100699 "MSH:D002921" @@ -107720,8 +105020,8 @@ MONDO:0015501 "Orphanet:156237" MONDO:0019243 "UMLS:CN227604" MONDO:0019243 "Orphanet:79200" MONDO:0000342 "DOID:0050516" -MONDO:0000342 "ICD10:A92.1" MONDO:0000342 "UMLS:C0276286" +MONDO:0000342 "ICD10CM:A92.1" MONDO:0000342 "MEDGEN:547234" MONDO:0000342 "SCTID:85579005" NCBITaxon:38820 "GC_ID:1" @@ -107729,20 +105029,20 @@ NCBITaxon:38820 "PMID:26350789" MONDO:0004292 "UMLS:C0280331" MONDO:0004292 "NCIT:C8191" MONDO:0004292 "DOID:7586" -MONDO:0017698 "ICD10:E74.0" MONDO:0017698 "OMIM:232500" MONDO:0017698 "Orphanet:308670" MONDO:0017698 "UMLS:C1856304" +MONDO:0017698 "ICD10CM:E74.0" MONDO:0003095 "UMLS:C1334373" MONDO:0003095 "NCIT:C9463" MONDO:0003095 "DOID:4688" MONDO:0008712 "GARD:0003075" MONDO:0008712 "MESH:C536892" MONDO:0008712 "SCTID:720418008" -MONDO:0008712 "ICD10:Q87.0" MONDO:0008712 "OMIM:201050" MONDO:0008712 "UMLS:C1860145" MONDO:0008712 "Orphanet:949" +MONDO:0008712 "ICD10CM:Q87.0" MONDO:0014649 "OMIM:616460" MONDO:0001783 "SCTID:721571001" MONDO:0001783 "DOID:1373" @@ -107753,12 +105053,12 @@ MONDO:0001783 "ICDO:8930/0" MONDO:0023093 "GARD:0010800" MONDO:0007686 "OMIM:139090" MONDO:0007686 "SCTID:51720005" -MONDO:0007686 "ICD10:D69.1" MONDO:0007686 "OMIM:187900" MONDO:0007686 "MESH:D055652" MONDO:0007686 "UMLS:CN205641" MONDO:0007686 "UMLS:C0272302" MONDO:0007686 "Orphanet:721" +MONDO:0007686 "ICD10CM:D69.1" MONDO:0007686 "DOID:0111044" MONDO:0007686 "UMLS:C2717750" MONDO:0007686 "NCIT:C84741" @@ -107782,11 +105082,9 @@ MONDO:0005101 "ICD9:556.5" MONDO:0005101 "UMLS:C0009324" MONDO:0005101 "NCIT:C2952" MONDO:0005101 "Orphanet:771" -MONDO:0005101 "ICD10:K51" MONDO:0005101 "ICD9:556.9" MONDO:0005101 "ICD9:556" MONDO:0005101 "MESH:D003093" -MONDO:0005101 "ICD10:K51.9" MONDO:0005101 "DOID:8577" MONDO:0005101 "ICD9:556.8" MONDO:0005101 "EFO:0000729" @@ -107797,25 +105095,25 @@ MONDO:0012916 "SCTID:719651000" MONDO:0012916 "MESH:C567289" MONDO:0012916 "UMLS:C4304538" MONDO:0012916 "UMLS:C2675875" -MONDO:0012916 "ICD10:Q93.5" MONDO:0012916 "Orphanet:261349" MONDO:0012916 "DOID:0060415" MONDO:0012916 "GARD:0013391" +MONDO:0012916 "ICD10CM:Q93.5" MONDO:0012916 "OMIM:612513" +MONDO:0020072 "ICD10CM:G40.4" MONDO:0020072 "Orphanet:98259" -MONDO:0020072 "ICD10:G40.4" MONDO:0020072 "UMLS:CN206976" -MONDO:0019633 "ICD10:A68.1" MONDO:0019633 "DOID:13034" -MONDO:0019633 "ICD10:A68" +MONDO:0019633 "ICD10CM:A68.0" MONDO:0019633 "SCTID:420079008" MONDO:0019633 "MedDRA:10038300" MONDO:0019633 "ICD9:087" +MONDO:0019633 "ICD10CM:A68" MONDO:0019633 "Orphanet:91547" MONDO:0019633 "ICD9:087.9" -MONDO:0019633 "ICD10:A68.9" -MONDO:0019633 "ICD10:A68.0" +MONDO:0019633 "ICD10CM:A68.1" MONDO:0019633 "MESH:D012061" +MONDO:0019633 "ICD10CM:A68.9" MONDO:0019633 "UMLS:C0035021" MONDO:0003103 "UMLS:C1334946" MONDO:0003103 "NCIT:C5119" @@ -107868,7 +105166,7 @@ MONDO:0003481 "DOID:5511" MONDO:0002552 "DOID:320" MONDO:0002552 "UMLS:C0154685" MONDO:0002552 "ICD9:336.1" -MONDO:0002552 "ICD10:G95.1" +MONDO:0002552 "ICD10CM:G95.1" MONDO:0002552 "SCTID:29774004" HP:0000518 "UMLS:C1510497" HP:0000518 "Fyler:4865" @@ -107879,7 +105177,6 @@ HP:0000518 "MSH:D002386" HP:0000518 "SNOMEDCT_US:193570009" MONDO:0017119 "Orphanet:269528" MONDO:0017119 "UMLS:CN202469" -MONDO:0004982 "ICD10:K85.9" MONDO:0004982 "NCIT:C3306" MONDO:0004982 "DOID:4989" MONDO:0004982 "SCTID:75694006" @@ -107888,9 +105185,9 @@ MONDO:0004982 "MESH:D010195" MONDO:0004982 "UMLS:C0030305" MONDO:0010265 "DOID:0080342" MONDO:0010265 "MESH:C564567" -MONDO:0010265 "ICD10:Q87.3" MONDO:0010265 "OMIM:300209" MONDO:0010265 "Orphanet:79022" +MONDO:0010265 "ICD10CM:Q87.3" MONDO:0010265 "UMLS:C1846175" MONDO:0001332 "ICD9:719.31" MONDO:0001332 "SCTID:50442003" @@ -107900,16 +105197,15 @@ MONDO:0001332 "UMLS:C0085574" MONDO:0001332 "ICD9:719.36" MONDO:0001332 "ICD9:719.30" MONDO:0001332 "MESH:C538103" -MONDO:0001332 "ICD10:M12.30" MONDO:0001332 "ICD9:719.3" MONDO:0001332 "ICD9:719.33" +MONDO:0001332 "ICD10CM:M12.3" MONDO:0001332 "DOID:1166" -MONDO:0001332 "ICD10:M12.3" MONDO:0001332 "ICD9:719.32" CL:1001603 "CALOHA:TS-0576" -MONDO:0016905 "ICD10:Q93.5" MONDO:0016905 "UMLS:C0795816" MONDO:0016905 "Orphanet:262047" +MONDO:0016905 "ICD10CM:Q93.5" MONDO:0016905 "MESH:C537807" MONDO:0016905 "GARD:0003760" MONDO:0033259 "DOID:0080268" @@ -107920,18 +105216,18 @@ HP:0030050 "MSH:D009290" HP:0030050 "SNOMEDCT_US:60380001" MONDO:0000594 "ICD9:299.80" MONDO:0000594 "DOID:0060040" +MONDO:0000594 "ICD10CM:F80-F89" MONDO:0000594 "NCIT:C97179" MONDO:0000594 "MESH:D002659" MONDO:0000594 "SCTID:35919005" MONDO:0006497 "UMLS:C0007789" -MONDO:0006497 "ICD10:G80" MONDO:0006497 "ICD9:343.9" -MONDO:0006497 "ICD10:G80.9" MONDO:0006497 "GARD:0010450" MONDO:0006497 "MESH:D002547" MONDO:0006497 "ICD9:343.8" MONDO:0006497 "EFO:1000632" MONDO:0006497 "SCTID:128188000" +MONDO:0006497 "ICD10CM:G80" MONDO:0006497 "NCIT:C34460" MONDO:0006497 "HP:0100021" MONDO:0006497 "DOID:1969" @@ -107941,7 +105237,7 @@ MONDO:0009483 "SCTID:722031003" MONDO:0009483 "Orphanet:2328" MONDO:0009483 "GARD:0003078" MONDO:0009483 "MESH:C537008" -MONDO:0009483 "ICD10:Q87.8" +MONDO:0009483 "ICD10CM:Q87.8" MONDO:0009483 "OMIM:244300" MONDO:0009483 "UMLS:C0796005" MONDO:0008315 "OMIM:611959" @@ -107952,8 +105248,8 @@ MONDO:0008315 "OMIM:608658" MONDO:0008315 "OMIM:610321" MONDO:0008315 "OMIM:300147" MONDO:0008315 "OMIM:610997" +MONDO:0008315 "ICD10CM:C61" MONDO:0008315 "NCIT:C3343" -MONDO:0008315 "ICD10:C61" MONDO:0008315 "OMIM:614731" MONDO:0008315 "ICD9:185" MONDO:0008315 "NCIT:C7378" @@ -107980,16 +105276,15 @@ MONDO:0014092 "UMLS:C3808913" MONDO:0014092 "DOID:0070093" MONDO:0010580 "NCIT:C131009" MONDO:0010580 "SCTID:237618001" +MONDO:0010580 "ICD10CM:E31.0" MONDO:0010580 "MESH:C580192" MONDO:0010580 "OMIM:304790" MONDO:0010580 "Orphanet:37042" -MONDO:0010580 "ICD10:E31.0" MONDO:0010580 "GARD:0001850" MONDO:0010580 "GARD:1850" MONDO:0010580 "ICD9:250.81" MONDO:0010580 "DOID:0090110" MONDO:0014428 "DOID:0110463" -MONDO:0014428 "ICD10:H90.3" MONDO:0014428 "UMLS:C3892050" MONDO:0014428 "OMIM:615974" MONDO:0100406 "NCIT:C167195" @@ -108006,55 +105301,49 @@ NCBITaxon:43786 "GC_ID:1" MONDO:0011903 "GARD:0009198" MONDO:0011903 "SCTID:717014003" MONDO:0011903 "Orphanet:99943" -MONDO:0011903 "ICD10:G60.0" MONDO:0011903 "MESH:C535417" MONDO:0011903 "OMIM:607736" +MONDO:0011903 "ICD10CM:G60.0" MONDO:0011903 "DOID:0110157" MONDO:0016036 "GARD:0006873" MONDO:0016036 "MESH:C537000" MONDO:0016036 "MedDRA:10035154" MONDO:0016036 "Orphanet:199251" -MONDO:0016036 "ICD10:M72.2" MONDO:0013906 "DOID:0110062" -MONDO:0013906 "ICD10:K00.5" MONDO:0013906 "OMIM:614832" MONDO:0013906 "Orphanet:100033" MONDO:0013906 "UMLS:C3553830" MONDO:0009099 "Orphanet:3145" MONDO:0009099 "OMIM:221995" MONDO:0009099 "SCTID:716200002" -MONDO:0009099 "ICD10:N21.5" MONDO:0009099 "GARD:0000259" MONDO:0019412 "UMLS:C4302548" MONDO:0019412 "SCTID:722434004" -MONDO:0019412 "ICD10:Q78.4" MONDO:0019412 "Orphanet:85198" -MONDO:0009756 "ICD10:E75.2" +MONDO:0019412 "ICD10CM:Q78.4" MONDO:0009756 "Orphanet:77292" MONDO:0009756 "UMLS:C0268242" MONDO:0009756 "SCTID:52165006" MONDO:0009756 "GARD:0007206" MONDO:0009756 "NCIT:C126561" +MONDO:0009756 "ICD10CM:E75.2" MONDO:0009756 "DOID:0070111" MONDO:0009756 "OMIM:257200" MONDO:0009756 "MESH:D052536" -MONDO:0014100 "ICD10:I42.0" MONDO:0014100 "OMIM:615248" +MONDO:0014100 "ICD10CM:I42.0" MONDO:0014100 "DOID:0110445" MONDO:0014100 "Orphanet:75249" MONDO:0030529 "OMIM:619707" MONDO:0005336 "MESH:D009135" MONDO:0005336 "ICD9:359.8" -MONDO:0005336 "ICD10:M62.9" MONDO:0005336 "SCTID:129565002" -MONDO:0005336 "ICD10:G72.9" MONDO:0005336 "ICD9:728.3" MONDO:0005336 "UMLS:C0026848" MONDO:0005336 "NCIT:C101216" MONDO:0005336 "OMIM:181430" MONDO:0005336 "ICD9:359.9" MONDO:0005336 "EFO:0004145" -MONDO:0005336 "ICD10:M60-M63" MONDO:0005336 "OMIM:300695" MONDO:0005336 "DOID:423" MONDO:0003355 "EFO:0006718" @@ -108066,10 +105355,9 @@ MONDO:0001081 "UMLS:C0269061" MONDO:0001081 "SCTID:19272000" MONDO:0001081 "DOID:10616" MONDO:0017477 "Orphanet:295051" -MONDO:0017477 "ICD10:Q74.2" +MONDO:0017477 "ICD10CM:Q74.2" MONDO:0004598 "UMLS:C0155672" MONDO:0004598 "ICD9:415.0" -MONDO:0004598 "ICD10:I26.09" MONDO:0004598 "SCTID:49584005" MONDO:0004598 "DOID:8517" NCBITaxon:2698737 "GC_ID:1" @@ -108078,8 +105366,8 @@ MONDO:0014911 "EFO:0009155" MONDO:0014911 "UMLS:C4310720" MONDO:0014911 "OMIM:617093" MONDO:0006731 "EFO:1000903" -MONDO:0006731 "ICD10:G25.71" MONDO:0006731 "ICD9:333.99" +MONDO:0006731 "ICD10CM:G25.71" MONDO:0006731 "MESH:D017109" MONDO:0006731 "MedDRA:10001540" MONDO:0006731 "NCIT:C78163" @@ -108088,7 +105376,7 @@ MONDO:0013341 "UMLS:C3150900" MONDO:0013341 "DOID:0060741" MONDO:0013341 "OMIM:613646" MONDO:0013341 "Orphanet:280183" -MONDO:0013341 "ICD10:E71.1" +MONDO:0013341 "ICD10CM:E71.1" MONDO:0019048 "Orphanet:68362" MONDO:0003260 "NCIT:C5968" MONDO:0003260 "UMLS:C1332197" @@ -108106,18 +105394,18 @@ MONDO:0000015 "UMLS:C1285186" MONDO:0000015 "ICD9:279.8" MONDO:0000015 "GARD:0009526" MONDO:0018081 "UMLS:CN204401" +MONDO:0018081 "ICD10EXP:A98.5+" +MONDO:0018081 "ICD10EXP:N08.0*" MONDO:0018081 "MedDRA:10023484" -MONDO:0018081 "ICD10:A98.5+" MONDO:0018081 "Orphanet:340" MONDO:0018081 "UMLS:C2930957" MONDO:0018081 "MESH:C535630" -MONDO:0018081 "ICD10:N08.0*" MONDO:0015324 "GARD:0000192" MONDO:0015324 "MESH:C537009" MONDO:0015324 "SCTID:715989002" -MONDO:0015324 "ICD10:Q87.8" MONDO:0015324 "Orphanet:1381" MONDO:0015324 "UMLS:C2931391" +MONDO:0015324 "ICD10CM:Q87.8" HP:0001508 "UMLS:C0231246" HP:0001508 "SNOMEDCT_US:36440009" HP:0001508 "SNOMEDCT_US:432788009" @@ -108130,19 +105418,19 @@ MONDO:0014782 "Orphanet:476084" MONDO:0014782 "UMLS:C4225199" MONDO:0019235 "UMLS:CN227599" MONDO:0019235 "Orphanet:79190" -MONDO:0016897 "ICD10:Q93.5" +MONDO:0016897 "ICD10CM:Q93.5" MONDO:0016897 "Orphanet:261983" MONDO:0020788 "OMIM:618314" +MONDO:0011669 "SCTID:721173005" MONDO:0011669 "UMLS:CN226952" -MONDO:0011669 "EFO:0007550" +MONDO:0011669 "ICD10CM:E72.0" MONDO:0011669 "MESH:C564710" -MONDO:0011669 "DOID:0060858" -MONDO:0011669 "Orphanet:163690" -MONDO:0011669 "SCTID:721173005" -MONDO:0011669 "ICD10:E72.0" MONDO:0011669 "Orphanet:238517" -MONDO:0011669 "Orphanet:163693" MONDO:0011669 "OMIM:606407" +MONDO:0011669 "Orphanet:163693" +MONDO:0011669 "Orphanet:163690" +MONDO:0011669 "DOID:0060858" +MONDO:0011669 "EFO:0007550" MONDO:0011669 "Orphanet:238523" MONDO:0000373 "DOID:0050612" MONDO:0006276 "NCIT:C39740" @@ -108152,50 +105440,45 @@ MONDO:0006276 "UMLS:C1518038" MONDO:0006276 "EFO:1000333" MONDO:0016726 "UMLS:CN201974" MONDO:0016726 "Orphanet:251924" +MONDO:0020389 "ICD10CM:Q22.2" MONDO:0020389 "Orphanet:99048" MONDO:0020389 "UMLS:CN207270" -MONDO:0020389 "ICD10:Q22.2" -MONDO:0018926 "ICD10:A81.1" +MONDO:0018926 "ICD10CM:A81.8" MONDO:0018926 "Orphanet:56970" -MONDO:0018926 "ICD10:A81.8" -MONDO:0018926 "ICD10:A81.0" -MONDO:0018926 "ICD10:A81.9" +MONDO:0018926 "ICD10CM:A81.1" +MONDO:0018926 "ICD10CM:A81.9" +MONDO:0018926 "ICD10CM:A81.0" MONDO:0009305 "MESH:C565535" MONDO:0009305 "UMLS:C1856263" MONDO:0009305 "OMIM:233600" +MONDO:0003767 "ICD9:424.0" +MONDO:0003767 "UMLS:C2939153" +MONDO:0003767 "ICD9:394.1" MONDO:0003767 "ICD9:394.9" -MONDO:0003767 "SCTID:83898004" -MONDO:0003767 "ICD10:I05.1" +MONDO:0003767 "ICD9:394" MONDO:0003767 "UMLS:C0264765" -MONDO:0003767 "UMLS:C0026265" -MONDO:0003767 "ICD9:394.1" MONDO:0003767 "NCIT:C78446" -MONDO:0003767 "UMLS:C2939153" -MONDO:0003767 "ICD10:I05" -MONDO:0003767 "ICD9:394" MONDO:0003767 "DOID:61" -MONDO:0003767 "ICD9:424.0" -MONDO:0003767 "ICD10:I05.9" +MONDO:0003767 "UMLS:C0026265" +MONDO:0003767 "SCTID:83898004" MONDO:0003767 "SCTID:11851006" MONDO:0014398 "DOID:0111465" MONDO:0014398 "EFO:0009032" MONDO:0014398 "Orphanet:420733" MONDO:0014398 "SCTID:763211004" MONDO:0014398 "OMIM:615918" -MONDO:0014398 "ICD10:E88.8" MONDO:0014398 "UMLS:C4014668" +MONDO:0014398 "ICD10CM:E88.8" MONDO:0013770 "UMLS:C3280943" MONDO:0013770 "OMIM:614475" MONDO:0013770 "DOID:0110114" MONDO:0013770 "Orphanet:1478" -MONDO:0013770 "ICD10:Q21.1" MONDO:0100398 "NCIT:C36407" MONDO:0100398 "NCIT:C122716" MONDO:0024711 "NCIT:C37265" MONDO:0024711 "UMLS:C1334602" MONDO:0020625 "OMIM:112050" MONDO:0011832 "Orphanet:90635" -MONDO:0011832 "ICD10:H90.3" MONDO:0011832 "OMIM:607453" MONDO:0011832 "UMLS:C1843895" MONDO:0011832 "DOID:0110569" @@ -108204,42 +105487,40 @@ MONDO:0100281 "OMIM:153600" MONDO:0004147 "DOID:7214" MONDO:0004147 "NCIT:C9080" MONDO:0004147 "UMLS:C0278847" -MONDO:0015714 "ICD10:E22.8" MONDO:0015714 "UMLS:CN200226" MONDO:0015714 "Orphanet:169618" +MONDO:0015714 "ICD10CM:E22.8" MONDO:0006347 "NCIT:C95582" MONDO:0006347 "UMLS:C2987239" MONDO:0006347 "EFO:1000442" -MONDO:0008250 "SCTID:237687003" -MONDO:0008250 "OMIM:173100" +MONDO:0008250 "ICD10CM:E23.0" MONDO:0008250 "MESH:C562704" MONDO:0008250 "GARD:0001696" -MONDO:0008250 "Orphanet:231679" -MONDO:0008250 "Orphanet:631" -MONDO:0008250 "ICD10:E23.0" MONDO:0008250 "DOID:0060872" +MONDO:0008250 "Orphanet:231679" +MONDO:0008250 "SCTID:237687003" +MONDO:0008250 "OMIM:173100" MONDO:0008250 "UMLS:C0271567" +MONDO:0008250 "Orphanet:631" MONDO:0031014 "DOID:0040090" MONDO:0031014 "NCIT:C95752" -MONDO:0012908 "ICD10:D84.1" -MONDO:0012908 "DOID:0060299" -MONDO:0012908 "OMIM:612446" -MONDO:0012908 "UMLS:C2676232" -MONDO:0012908 "Orphanet:169150" +MONDO:0009723 "ICD10CM:G31.8" MONDO:0009723 "Orphanet:506" MONDO:0009723 "NCIT:C84814" MONDO:0009723 "GARD:0006877" MONDO:0009723 "MESH:D007888" MONDO:0009723 "MedDRA:10062950" -MONDO:0009723 "ICD10:G31.82" MONDO:0009723 "ICD9:330.8" MONDO:0009723 "UMLS:C0023264" -MONDO:0009723 "ICD10:G31.8" MONDO:0009723 "DOID:3652" MONDO:0009723 "OMIM:256000" MONDO:0009723 "SCTID:29570005" MONDO:0009723 "Orphanet:255210" MONDO:0009723 "OMIM:220111" +MONDO:0012908 "DOID:0060299" +MONDO:0012908 "OMIM:612446" +MONDO:0012908 "UMLS:C2676232" +MONDO:0012908 "Orphanet:169150" MONDO:0010430 "UMLS:C2749020" MONDO:0010430 "MESH:C567583" MONDO:0010430 "OMIM:300803" @@ -108251,23 +105532,21 @@ HP:0012780 "NCIT:C3262" NCBITaxon:4858 "GC_ID:1" MONDO:0002071 "DOID:1659" MONDO:0002071 "NCIT:C4964" -MONDO:0002071 "ICD10:C71.0" MONDO:0002071 "MESH:D015173" -MONDO:0007725 "ICD10:D76.3" MONDO:0007725 "MESH:C564186" MONDO:0007725 "OMIM:142630" +MONDO:0007725 "ICD10CM:D76.3" MONDO:0007725 "UMLS:C1840586" MONDO:0007725 "Orphanet:158025" MONDO:0018771 "Orphanet:474347" -MONDO:0009652 "ICD10:E77.0" MONDO:0009652 "Orphanet:423470" MONDO:0009652 "UMLS:C1854896" +MONDO:0009652 "ICD10CM:E77.0" MONDO:0009652 "MESH:C565367" MONDO:0009652 "NCIT:C129978" MONDO:0009652 "Orphanet:577" MONDO:0009652 "OMIM:252605" MONDO:0005588 "EFO:0006313" -MONDO:0006662 "ICD10:G03.0" MONDO:0006662 "MESH:D008582" MONDO:0006662 "UMLS:C0025290" MONDO:0006662 "SCTID:58170007" @@ -108281,11 +105560,11 @@ MONDO:0001996 "ICD9:365.03" MONDO:0001996 "DOID:14548" MONDO:0001996 "SCTID:302895007" MONDO:0008964 "MESH:C536210" +MONDO:0008964 "ICD10CM:P78.3" MONDO:0008964 "ICD9:579.8" MONDO:0008964 "GARD:0010001" MONDO:0008964 "OMIM:214700" MONDO:0008964 "DOID:0060296" -MONDO:0008964 "ICD10:P78.3" MONDO:0008964 "SCTID:24412005" MONDO:0008964 "Orphanet:53689" HP:0000970 "MEDDRA:10002512" @@ -108301,26 +105580,23 @@ MONDO:0006966 "MESH:D010302" MONDO:0006966 "UMLS:C0030569" MONDO:0006966 "NCIT:C34899" MONDO:0006966 "ICD9:332.1" -MONDO:0006966 "ICD10:G21.9" MONDO:0006966 "EFO:1001175" -MONDO:0006966 "ICD10:G21" MONDO:0006966 "SCTID:265377002" MONDO:0006966 "DOID:13548" -MONDO:0015127 "ICD10:E23.0" MONDO:0015127 "Orphanet:101957" -MONDO:0016201 "Orphanet:209224" MONDO:0012249 "DOID:0070274" MONDO:0012249 "MESH:D055847" MONDO:0012249 "Orphanet:144" MONDO:0012249 "OMIM:609310" +MONDO:0016201 "Orphanet:209224" MONDO:0007912 "OMIM:152420" MONDO:0032905 "OMIM:618768" MONDO:0030308 "OMIM:619381" MONDO:0010088 "Orphanet:585" +MONDO:0010088 "ICD10CM:E75.2" MONDO:0010088 "NCIT:C84908" MONDO:0010088 "OMIM:272200" MONDO:0010088 "GARD:0005061" -MONDO:0010088 "ICD10:E75.2" MONDO:0010088 "UMLS:C0268263" MONDO:0010088 "DOID:0050441" MONDO:0010088 "MESH:D052517" @@ -108328,15 +105604,14 @@ MONDO:0010088 "SCTID:54898003" MONDO:0011162 "Orphanet:98993" MONDO:0011162 "DOID:0110253" MONDO:0011162 "MESH:C566608" -MONDO:0011162 "ICD10:Q12.0" MONDO:0011162 "Orphanet:98991" MONDO:0011162 "OMIM:601885" MONDO:0011162 "UMLS:C1866078" MONDO:0011162 "Orphanet:91492" MONDO:0011162 "Orphanet:98984" +MONDO:0015884 "ICD10CM:Q82.4" MONDO:0015884 "OMIM:129490" MONDO:0015884 "Orphanet:1810" -MONDO:0015884 "ICD10:Q82.4" MONDO:0015884 "OMIM:614940" MONDO:0001419 "SCTID:254620000" MONDO:0001419 "DOID:12003" @@ -108351,7 +105626,7 @@ MONDO:0002578 "GARD:0009398" MONDO:0002578 "UMLS:C1306573" MONDO:0002578 "SCTID:404052009" MONDO:0022576 "GARD:0009243" -MONDO:0017887 "ICD10:C64" +MONDO:0017887 "ICD10CM:C64" MONDO:0017887 "UMLS:C3272295" MONDO:0017887 "Orphanet:319314" MONDO:0017887 "NCIT:C100051" @@ -108363,7 +105638,7 @@ MONDO:0014816 "OMIM:616890" MONDO:0014816 "UMLS:C4225167" MONDO:0017642 "UMLS:CN227166" MONDO:0017642 "Orphanet:3067" -MONDO:0017642 "ICD10:Q87.8" +MONDO:0017642 "ICD10CM:Q87.8" MONDO:0043170 "GARD:0004262" MONDO:0043170 "UMLS:C2931172" MONDO:0043170 "MESH:C536313" @@ -108381,21 +105656,20 @@ HP:0001153 "SNOMEDCT_US:47054003" MONDO:0100060 "NCIT:C178232" MONDO:0018059 "EFO:1001040" MONDO:0018059 "Orphanet:33475" +MONDO:0018059 "ICD10CM:A39.0" MONDO:0018059 "UMLS:C0025294" MONDO:0018059 "SCTID:192644005" -MONDO:0018059 "ICD10:G01*" +MONDO:0018059 "ICD10EXP:G01*" +MONDO:0018059 "ICD10EXP:A39.0+" MONDO:0018059 "MESH:D008585" MONDO:0018059 "ICD9:036.0" MONDO:0018059 "MedDRA:10027249" MONDO:0018059 "MedDRA:10027276" -MONDO:0018059 "ICD10:A39.0" -MONDO:0018059 "ICD10:A39.0+" MONDO:0018059 "DOID:0080176" CL:0002325 "FMA:79866" CL:0002325 "FMA:74506" MONDO:0008181 "OMIM:167600" MONDO:0005837 "ICD9:170.1" -MONDO:0005837 "ICD10:C41.1" MONDO:0005837 "SCTID:448668007" MONDO:0005837 "EFO:0007356" MONDO:0005837 "MESH:D008339" @@ -108404,25 +105678,24 @@ MONDO:0005837 "DOID:2338" MONDO:0011929 "OMIM:607872" MONDO:0011929 "SCTID:699306003" MONDO:0011929 "GARD:0006082" -MONDO:0011929 "ICD10:Q93.5" MONDO:0011929 "MESH:C535362" MONDO:0011929 "UMLS:C1842870" MONDO:0011929 "DOID:0060410" MONDO:0011929 "Orphanet:1606" MONDO:0011929 "ICD9:758.39" MONDO:0011929 "NCIT:C74983" +MONDO:0011929 "ICD10CM:Q93.5" MONDO:0011420 "MESH:C565805" -MONDO:0011420 "ICD10:E34.3" MONDO:0011420 "Orphanet:314802" +MONDO:0011420 "ICD10CM:E34.3" MONDO:0011420 "OMIM:604271" MONDO:0004619 "EFO:1002025" MONDO:0004619 "SCTID:14189004" +MONDO:0004619 "ICD10CM:B05" MONDO:0004619 "GARD:0003434" MONDO:0004619 "NCIT:C96406" -MONDO:0004619 "ICD10:B05" MONDO:0004619 "MESH:D008457" MONDO:0004619 "DOID:8622" -MONDO:0004619 "ICD10:B05.9" MONDO:0004619 "ICD9:055" MONDO:0004619 "UMLS:C0025007" MONDO:0001848 "SCTID:264443002" @@ -108441,65 +105714,63 @@ MONDO:0015988 "ICD9:753.19" MONDO:0015988 "MESH:D021782" MONDO:0015988 "UMLS:C3714581" MONDO:0015988 "NCIT:C123031" -MONDO:0015988 "ICD10:Q61.4" +MONDO:0015988 "ICD10CM:Q61.4" MONDO:0015988 "Orphanet:1851" CL:1000418 "FMA:67802" MONDO:0011834 "DOID:0050969" MONDO:0011834 "UMLS:C4304848" MONDO:0011834 "UMLS:C1843884" MONDO:0011834 "GARD:0009976" +MONDO:0011834 "ICD10CM:G11.8" MONDO:0011834 "SCTID:719250005" MONDO:0011834 "Orphanet:98771" MONDO:0011834 "OMIM:607458" MONDO:0011834 "MESH:C537197" -MONDO:0011834 "ICD10:G11.8" MONDO:0016934 "Orphanet:262672" MONDO:0016934 "SCTID:726355001" MONDO:0009958 "DOID:10582" MONDO:0009958 "OMIM:266510" -MONDO:0009958 "MESH:C535517" +MONDO:0009958 "ICD10CM:G60.1" MONDO:0009958 "Orphanet:773" MONDO:0009958 "ICD9CM:356.3" MONDO:0009958 "OMIM:600964" MONDO:0009958 "SCTID:25362006" -MONDO:0009958 "ICD10:G60.1" MONDO:0009958 "MedDRA:10038275" MONDO:0009958 "OMIM:266500" MONDO:0009958 "NCIT:C85043" MONDO:0009958 "ICD9:272.8" MONDO:0009958 "MESH:D012035" MONDO:0009958 "GARD:0005691" -MONDO:0009958 "UMLS:C1833022" MONDO:0009958 "GARD:0004371" MONDO:0019306 "OMIM:615022" MONDO:0019306 "OMIM:242100" MONDO:0019306 "OMIM:612281" MONDO:0019306 "OMIM:615023" MONDO:0019306 "OMIM:606545" -MONDO:0019306 "ICD10:Q80.2" MONDO:0019306 "Orphanet:79394" MONDO:0019306 "HP:0007431" MONDO:0019306 "OMIM:615024" MONDO:0019306 "DOID:1699" MONDO:0019306 "SCTID:205550003" +MONDO:0019306 "ICD10CM:Q80.2" MONDO:0012993 "MESH:C567194" MONDO:0012993 "Orphanet:241" MONDO:0012993 "UMLS:C2675183" MONDO:0012993 "OMIM:612715" MONDO:0015129 "DOID:13774" -MONDO:0015129 "ICD10:E27.1" MONDO:0015129 "UMLS:C0271737" MONDO:0015129 "Orphanet:101959" MONDO:0015129 "NCIT:C113814" MONDO:0015129 "SCTID:373662000" MONDO:0015129 "NCIT:C26689" +MONDO:0015129 "ICD10CM:E27.1" MONDO:0015129 "GARD:0005740" MONDO:0015129 "MedDRA:10001130" MONDO:0015129 "OMIM:103230" MONDO:0015129 "OMIM:240200" MONDO:0015129 "Orphanet:85138" MONDO:0015129 "ICD9:255.41" -MONDO:0017308 "ICD10:Q87.4" +MONDO:0017308 "ICD10CM:Q87.4" MONDO:0017308 "OMIM:610168" MONDO:0017308 "UMLS:C2698016" MONDO:0017308 "Orphanet:284973" @@ -108522,14 +105793,13 @@ MONDO:0003286 "DOID:5125" MONDO:0003286 "UMLS:C1333507" MONDO:0003286 "NCIT:C5855" MONDO:0015316 "GARD:0012713" +MONDO:0015316 "ICD10CM:J38.0" MONDO:0015316 "UMLS:C0396058" -MONDO:0015316 "ICD10:J38.0" MONDO:0015316 "Orphanet:137932" MONDO:0022909 "GARD:0001637" +MONDO:0017516 "ICD10CM:Q71.8" MONDO:0017516 "Orphanet:295130" -MONDO:0017516 "ICD10:Q71.8" CL:0000081 "FMA:62844" -MONDO:0002357 "ICD10:C18.3" MONDO:0002357 "SCTID:363407001" MONDO:0002357 "ICD9:153.0" MONDO:0002357 "UMLS:C0153433" @@ -108538,8 +105808,8 @@ MONDO:0019946 "Orphanet:97231" MONDO:0019946 "MedDRA:10071570" MONDO:0019946 "OMIM:217090" MONDO:0019946 "SCTID:403435005" -MONDO:0019946 "ICD10:H10.4" MONDO:0019946 "ICD9:372.39" +MONDO:0019946 "ICD10CM:H10.4" MONDO:0019946 "UMLS:C1274789" MONDO:0019946 "GARD:0006187" MONDO:0024607 "UMLS:C4479410" @@ -108551,7 +105821,6 @@ MONDO:0001294 "SCTID:192915005" MONDO:0001294 "MESH:D006732" MONDO:0001294 "NCIT:C28155" MONDO:0001294 "GARD:0006670" -MONDO:0001294 "ICD10:G90.2" MONDO:0001294 "ICD9:337.09" MONDO:0040673 "UMLS:C4526657" MONDO:0040673 "NCIT:C136410" @@ -108561,39 +105830,38 @@ MONDO:0018749 "OMIM:613566" MONDO:0018749 "OMIM:141749" MONDO:0018749 "Orphanet:46532" MONDO:0018749 "UMLS:CN205122" -MONDO:0018749 "ICD10:D56.4" MONDO:0018749 "HGNC:5153" MONDO:0018749 "OMIM:142470" MONDO:0015580 "Orphanet:1636" -MONDO:0015580 "ICD10:Q93.5" MONDO:0015580 "SCTID:763529005" +MONDO:0015580 "ICD10CM:Q93.5" MONDO:0008567 "UMLS:C0238463" MONDO:0008567 "Orphanet:146" MONDO:0008567 "OMIM:188550" MONDO:0008567 "Orphanet:319487" +MONDO:0004670 "ICD10CM:L93" MONDO:0004670 "ICD9:695.4" -MONDO:0004670 "ICD10:L93.0" +MONDO:0004670 "ICD10CM:L93.0" MONDO:0004670 "UMLS:C0409974" MONDO:0004670 "DOID:8857" MONDO:0004670 "NCIT:C27153" MONDO:0004670 "SCTID:200936003" -MONDO:0004670 "ICD10:L93" NCBITaxon:11118 "GC_ID:1" MONDO:0018632 "Orphanet:444002" MONDO:0018632 "UMLS:CN237678" -MONDO:0018632 "ICD10:Q93.5" +MONDO:0018632 "ICD10CM:Q93.5" MONDO:0011012 "OMIM:601195" MONDO:0011012 "MESH:C537904" MONDO:0011012 "SCTID:66576001" +MONDO:0011012 "ICD10CM:E83.1" MONDO:0011012 "GARD:0008495" MONDO:0011012 "DOID:0111033" MONDO:0011012 "Orphanet:139507" -MONDO:0011012 "ICD10:E83.1" MONDO:0017174 "SCTID:91953003" -MONDO:0017174 "ICD10:G11.8" +MONDO:0017174 "ICD10CM:G11.8" MONDO:0017174 "Orphanet:276238" -MONDO:0003473 "SCTID:254949006" MONDO:0003473 "NCIT:C3875" +MONDO:0003473 "SCTID:254949006" MONDO:0003473 "DOID:5503" MONDO:0003473 "UMLS:C0238432" MONDO:0016757 "Orphanet:252212" @@ -108605,7 +105873,7 @@ MONDO:0016757 "NCIT:C4335" MONDO:0016757 "ICD9:171.9" MONDO:0018120 "Orphanet:352312" MONDO:0018120 "UMLS:CN227267" -MONDO:0017831 "ICD10:E75.2" +MONDO:0017831 "ICD10CM:E75.2" MONDO:0017831 "Orphanet:314918" MONDO:0009288 "SCTID:237965005" MONDO:0009288 "MESH:C562594" @@ -108613,19 +105881,19 @@ MONDO:0009288 "GARD:0002515" MONDO:0009288 "UMLS:C0342749" MONDO:0009288 "OMIM:232240" MONDO:0009288 "OMIM:232220" -MONDO:0009288 "ICD10:E74.0" MONDO:0009288 "SCTID:30102006" MONDO:0009288 "Orphanet:79259" +MONDO:0009288 "ICD10CM:E74.0" MONDO:0009288 "NCIT:C122661" MONDO:0009288 "Orphanet:364" MONDO:0002428 "DOID:2789" -MONDO:0002428 "ICD10:B64" -MONDO:0002428 "ICD10:B50-B64" +MONDO:0002428 "ICD10CM:B50-B64" MONDO:0002428 "NCIT:C34953" MONDO:0002428 "MESH:D011528" MONDO:0032873 "OMIM:618697" MONDO:0015463 "SCTID:763665007" -MONDO:0015463 "ICD10:Q87.0" +MONDO:0015463 "OMIM:312860" +MONDO:0015463 "ICD10CM:Q87.0" MONDO:0015463 "GARD:0004776" MONDO:0015463 "Orphanet:1514" MONDO:0015463 "MESH:C537528" @@ -108637,7 +105905,6 @@ MONDO:0006827 "ICD9:437.1" MONDO:0006827 "NCIT:C84807" MONDO:0006827 "GARD:0009263" MONDO:0006827 "MESH:D014854" -MONDO:0006827 "ICD10:G46.3" MONDO:0006827 "DOID:3522" MONDO:0006827 "EFO:1001011" MONDO:0006827 "MedDRA:10024033" @@ -108649,18 +105916,18 @@ MONDO:0012414 "Orphanet:228337" MONDO:0012414 "SCTID:720831008" MONDO:0012414 "MESH:C566438" MONDO:0012414 "Orphanet:168486" -MONDO:0012414 "ICD10:E75.4" MONDO:0012414 "Orphanet:79262" MONDO:0012414 "Orphanet:168491" MONDO:0012414 "OMIM:610127" +MONDO:0012414 "ICD10CM:E75.4" MONDO:0012414 "GARD:0001218" MONDO:0017361 "NCIT:C34992" -MONDO:0017361 "ICD10:P35.0" MONDO:0017361 "UMLS:C0035921" MONDO:0017361 "Orphanet:290" MONDO:0017361 "ICD9:771.0" MONDO:0017361 "GARD:0004744" MONDO:0017361 "MESH:D012410" +MONDO:0017361 "ICD10CM:P35.0" MONDO:0017361 "SCTID:1857005" MONDO:0017361 "MedDRA:10010618" MONDO:0017361 "EFO:0007218" @@ -108670,13 +105937,13 @@ MONDO:0044214 "OMIM:105570" MONDO:0004787 "NCIT:C40215" MONDO:0004787 "UMLS:C1516427" MONDO:0004787 "DOID:9442" +MONDO:0009475 "ICD10CM:E71.1" +MONDO:0009475 "ICD10CM:E71.110" MONDO:0009475 "OMIM:243500" -MONDO:0009475 "ICD10:E71.1" MONDO:0009475 "DOID:14753" MONDO:0009475 "UMLS:C0268575" MONDO:0009475 "SCTID:87827003" MONDO:0009475 "NCIT:C98964" -MONDO:0009475 "ICD10:E71.110" MONDO:0009475 "GARD:0000465" MONDO:0009475 "Orphanet:33" MONDO:0009475 "MESH:C538167" @@ -108685,7 +105952,7 @@ MONDO:0012824 "MESH:C567390" MONDO:0012824 "DOID:0060789" MONDO:0012824 "Orphanet:280288" MONDO:0012824 "OMIM:612233" -MONDO:0012824 "ICD10:E75.2" +MONDO:0012824 "ICD10CM:E75.2" MONDO:0012824 "Orphanet:280270" NCBITaxon:2611341 "PMID:30257078" NCBITaxon:2611341 "GC_ID:1" @@ -108696,7 +105963,6 @@ MONDO:0007431 "MESH:C538211" CL:1000692 "KUPO:0001102" MONDO:0013855 "OMIM:614680" MONDO:0016045 "UMLS:CN200724" -MONDO:0016045 "ICD10:Q99.0" MONDO:0016045 "Orphanet:199310" MONDO:0010528 "UMLS:C0003126" MONDO:0010528 "HP:0000458" @@ -108704,9 +105970,9 @@ MONDO:0010528 "MESH:D000857" MONDO:0010528 "SCTID:44169009" MONDO:0010528 "OMIM:301700" MONDO:0019421 "SCTID:718897009" -MONDO:0019421 "ICD10:Q87.8" MONDO:0019421 "UMLS:CN227630" MONDO:0019421 "Orphanet:85323" +MONDO:0019421 "ICD10CM:Q87.8" NCBITaxon:59263 "GC_ID:1" MONDO:0008159 "UMLS:C0029458" MONDO:0008159 "OMIM:166710" @@ -108718,48 +105984,47 @@ MONDO:0002930 "SCTID:254918001" MONDO:0002930 "NCIT:C4525" MONDO:0002930 "ICD9:189.0" MONDO:0002930 "DOID:4242" +MONDO:0018224 "ICD10CM:C84.5" MONDO:0018224 "Orphanet:364039" MONDO:0018224 "SCTID:763719001" MONDO:0018224 "NCIT:C45327" -MONDO:0018224 "ICD10:C84.5" MONDO:0018224 "ICDO:9725/3" MONDO:0018224 "UMLS:C1708397" MONDO:0100203 "OMOP:4248511" MONDO:0010643 "DOID:12603" MONDO:0010643 "MESH:C564112" MONDO:0010643 "HP:0002488" -MONDO:0010643 "ICD10:C95.00" MONDO:0010643 "SCTID:91855006" MONDO:0010643 "NCIT:C9300" MONDO:0010643 "ICD9:208.00" MONDO:0010643 "OMIM:308960" MONDO:0010643 "ICDO:9801/3" -MONDO:0010643 "ICD10:C95.0" -MONDO:0010643 "ICD9:208.0" MONDO:0010643 "EFO:1000068" +MONDO:0010643 "ICD9:208.0" NCBITaxon:5763 "GC_ID:1" MONDO:0015286 "MESH:D018981" MONDO:0015286 "DOID:5212" MONDO:0015286 "SCTID:238049009" MONDO:0015286 "ICD9:271.8" MONDO:0015286 "GARD:0010307" -MONDO:0015286 "ICD10:E77.8" MONDO:0015286 "NCIT:C84615" MONDO:0015286 "UMLS:C0282577" MONDO:0015286 "Orphanet:137" +MONDO:0015286 "ICD10CM:E77.8" MONDO:0033642 "OMIM:619075" MONDO:0016232 "Orphanet:211252" MONDO:0030489 "OMIM:619555" MONDO:0019749 "Orphanet:93619" MONDO:0014920 "OMIM:617111" -MONDO:0014920 "ICD10:H35.5" MONDO:0014920 "DOID:0060865" MONDO:0014920 "UMLS:C4310713" +MONDO:0014920 "ICD10CM:H35.5" MONDO:0014920 "Orphanet:466718" MONDO:0044643 "Orphanet:495875" MONDO:0022018 "UMLS:C1859406" MONDO:0022018 "MESH:C536577" MONDO:0022018 "GARD:0000939" +MONDO:0022018 "OMIM:211170" MONDO:0002156 "MESH:D005184" MONDO:0002156 "SCTID:128134005" MONDO:0002156 "NCIT:C26771" @@ -108769,20 +106034,18 @@ MONDO:0015012 "Orphanet:505248" MONDO:0015012 "UMLS:C4310627" MONDO:0015012 "OMIM:617303" CL:0002191 "FMA:83519" -MONDO:0008346 "ICD10:J84.03" +MONDO:0008346 "ICD10EXP:E83.1+" MONDO:0008346 "SCTID:40527005" MONDO:0008346 "GARD:0007645" MONDO:0008346 "MESH:D012806" MONDO:0008346 "OMIM:235500" +MONDO:0008346 "ICD10EXP:J99.8*" MONDO:0008346 "DOID:10328" -MONDO:0008346 "ICD10:J99.8*" MONDO:0008346 "Orphanet:99931" -MONDO:0008346 "ICD10:J63.4" MONDO:0008346 "ICD9:516.1" MONDO:0008346 "GARD:0006763" MONDO:0008346 "OMIM:178550" MONDO:0008346 "DOID:12118" -MONDO:0008346 "ICD10:E83.1+" MONDO:0014587 "OMIM:616325" MONDO:0014587 "UMLS:C4225368" MONDO:0014587 "Orphanet:590" @@ -108790,18 +106053,15 @@ MONDO:0014587 "DOID:0110670" MONDO:0005532 "SCTID:7620006" MONDO:0005532 "ICD9:555.1" MONDO:0005532 "DOID:0060192" -MONDO:0005532 "ICD10:K50.1" MONDO:0005532 "NCIT:C35211" MONDO:0005532 "EFO:0005622" MONDO:0035133 "Orphanet:589905" MONDO:0014470 "OMIM:616044" MONDO:0014470 "UMLS:C3892048" MONDO:0014470 "DOID:0110586" -MONDO:0014470 "ICD10:H90.3" CL:0002169 "FMA:62303" MONDO:0018090 "GARD:0001907" MONDO:0018090 "ICD9:745.19" -MONDO:0018090 "ICD10:Q20.2" MONDO:0018090 "HP:0011581" MONDO:0018090 "Orphanet:3427" MONDO:0018090 "SCTID:7368005" @@ -108810,7 +106070,6 @@ MONDO:0012595 "OMIM:610988" MONDO:0021259 "ONCOTREE:PROSTATE" MONDO:0021259 "ICD9:600.1" MONDO:0021259 "NCIT:C3343" -MONDO:0021259 "ICD10:N40" MONDO:0021259 "DOID:13206" MONDO:0004262 "UMLS:C1513799" MONDO:0004262 "NCIT:C40385" @@ -108825,15 +106084,15 @@ MONDO:0016453 "ICD9:005.1" MONDO:0016453 "NCIT:C128341" MONDO:0016453 "Orphanet:228371" MONDO:0016453 "SCTID:398523009" -MONDO:0016453 "ICD10:A05.1" MONDO:0016453 "DOID:0050352" +MONDO:0016453 "ICD10CM:A05.1" MONDO:0013404 "SCTID:724039002" MONDO:0013404 "UMLS:C3151058" MONDO:0013404 "Orphanet:88618" +MONDO:0013404 "ICD10CM:E72.1" MONDO:0013404 "DOID:0111039" MONDO:0013404 "GARD:0013177" MONDO:0013404 "UMLS:C4510276" -MONDO:0013404 "ICD10:E72.1" MONDO:0013404 "OMIM:613752" MONDO:0015652 "Orphanet:166469" MONDO:0023388 "UMLS:C0343060" @@ -108844,7 +106103,7 @@ MONDO:0025086 "MESH:D006619" MONDO:0006419 "EFO:1000536" MONDO:0006419 "UMLS:C1335999" MONDO:0006419 "NCIT:C27462" -MONDO:0007977 "ICD10:Q78.8" +MONDO:0007977 "ICD10CM:Q78.8" MONDO:0007977 "OMIM:156232" MONDO:0007977 "GARD:0003074" MONDO:0007977 "Orphanet:1836" @@ -108861,11 +106120,11 @@ MONDO:0002522 "DOID:314" MONDO:0002522 "ICD9:727.02" MONDO:0002522 "UMLS:C1318543" MONDO:0010235 "GARD:0003506" -MONDO:0010235 "ICD10:F71.1" MONDO:0010235 "DOID:0060827" MONDO:0010235 "ICD9:758.89" MONDO:0010235 "SCTID:702356009" MONDO:0010235 "OMIM:300055" +MONDO:0010235 "ICD10CM:F71.1" MONDO:0010235 "Orphanet:3077" NCBITaxon:2748762 "GC_ID:1" MONDO:0020300 "OMIM:610353" @@ -108880,15 +106139,15 @@ MONDO:0020300 "Orphanet:98784" MONDO:0020300 "UMLS:C3696898" MONDO:0020300 "DOID:0060681" MONDO:0020300 "OMIM:600513" +MONDO:0019079 "ICD10CM:G12.1" MONDO:0019079 "OMIM:253400" -MONDO:0019079 "ICD10:G12.0" MONDO:0019079 "Orphanet:70" -MONDO:0019079 "ICD10:G12.1" MONDO:0019079 "UMLS:C4024957" MONDO:0019079 "OMIM:253550" MONDO:0019079 "UMLS:CN205570" MONDO:0019079 "EFO:0008929" MONDO:0019079 "GARD:0004531" +MONDO:0019079 "ICD10CM:G12.0" MONDO:0019079 "OMIM:253300" MONDO:0019079 "OMIM:271150" MONDO:0014845 "DOID:0111614" @@ -108905,7 +106164,6 @@ HP:0000610 "UMLS:C4025836" HP:0000610 "UMLS:C0008521" HP:0000610 "MSH:D015862" MONDO:0008220 "OMIM:169710" -MONDO:0006829 "ICD10:D72.823" MONDO:0006829 "NCIT:C3185" MONDO:0006829 "MedDRA:10024373" MONDO:0006829 "EFO:1001014" @@ -108914,17 +106172,18 @@ MONDO:0006829 "SCTID:56478004" MONDO:0006829 "MESH:D007955" MONDO:0006829 "UMLS:C0023501" MONDO:0006829 "ICD9:288.62" -MONDO:0020585 "UMLS:C4329304" -MONDO:0020585 "NCIT:C131630" +MONDO:0006829 "ICD10CM:D72.823" MONDO:0021627 "NCIT:C4357" MONDO:0021627 "SCTID:231828003" MONDO:0021627 "UMLS:C0339110" +MONDO:0020585 "UMLS:C4329304" +MONDO:0020585 "NCIT:C131630" MONDO:0001120 "ICD9:473.1" -MONDO:0001120 "ICD10:J32.1" MONDO:0001120 "NCIT:C34473" MONDO:0001120 "UMLS:C0008683" MONDO:0001120 "DOID:10790" MONDO:0001120 "SCTID:60130002" +MONDO:0001120 "ICD10CM:J32.1" MONDO:0007023 "SCTID:83436008" MONDO:0007023 "EFO:1001245" MONDO:0007023 "MESH:D015009" @@ -108934,24 +106193,24 @@ MONDO:0003963 "SCTID:449784008" MONDO:0003963 "UMLS:C1333292" MONDO:0003963 "NCIT:C35699" MONDO:0003963 "DOID:6677" -MONDO:0009149 "ICD10:Q87.8" MONDO:0009149 "OMIM:225040" +MONDO:0009149 "ICD10CM:Q87.8" MONDO:0009149 "MESH:C565605" MONDO:0009149 "Orphanet:1812" MONDO:0009149 "UMLS:C1857053" MONDO:0024250 "ICD9:696.5" MONDO:0024250 "SCTID:86487001" MONDO:0023961 "OMIMPS:243180" +MONDO:0014062 "ICD10CM:G71.3" MONDO:0014062 "DOID:0111519" MONDO:0014062 "UMLS:C3554599" MONDO:0014062 "OMIM:615156" MONDO:0014062 "Orphanet:352470" -MONDO:0014062 "ICD10:G71.3" MONDO:0011676 "OMIM:606519" +MONDO:0011676 "ICD10CM:Q28.8" MONDO:0011676 "Orphanet:42775" MONDO:0011676 "GARD:0008338" MONDO:0011676 "MedDRA:10068032" -MONDO:0011676 "ICD10:Q28.8" MONDO:0011676 "UMLS:C1847874" MONDO:0010422 "MESH:C567463" MONDO:0010422 "OMIM:300756" @@ -108962,10 +106221,10 @@ MONDO:0013398 "UMLS:C3151038" MONDO:0013398 "OMIM:613737" MONDO:0009661 "GARD:0007095" MONDO:0009661 "Orphanet:583" -MONDO:0009661 "ICD10:E76.2" MONDO:0009661 "SCTID:69463008" MONDO:0009661 "OMIM:253200" MONDO:0009661 "MedDRA:10056892" +MONDO:0009661 "ICD10CM:E76.2" MONDO:0009661 "UMLS:C0026709" MONDO:0009661 "NCIT:C61264" MONDO:0009661 "DOID:12800" @@ -108980,51 +106239,47 @@ MONDO:0004648 "SCTID:429998004" MONDO:0004648 "MESH:D015140" MONDO:0004648 "SCTID:56267009" MONDO:0004648 "ICD9:290.4" -MONDO:0004648 "ICD10:F01.5" MONDO:0004648 "EFO:0004718" -MONDO:0004648 "ICD10:F01" MONDO:0004648 "NCIT:C34522" -MONDO:0000751 "DOID:0060325" -MONDO:0000751 "SCTID:65576009" -MONDO:0000751 "UMLS:C0347493" MONDO:0000751 "HP:0030159" -MONDO:0000751 "NCIT:C2939" +MONDO:0000751 "UMLS:C0347493" MONDO:0000751 "ICD9:219" +MONDO:0000751 "NCIT:C2939" MONDO:0000751 "UMLS:C0007855" -MONDO:0000751 "ICD10:D26.9" -MONDO:0000751 "ICD10:D26" +MONDO:0000751 "SCTID:65576009" +MONDO:0000751 "DOID:0060325" MONDO:0012280 "SCTID:717822006" MONDO:0012280 "UMLS:C1836123" MONDO:0012280 "OMIM:609460" MONDO:0012280 "DOID:0060481" MONDO:0012280 "GARD:0009849" MONDO:0012280 "MESH:C537279" +MONDO:0012280 "ICD10CM:Q87.8" MONDO:0012280 "Orphanet:66629" -MONDO:0012280 "ICD10:Q87.8" MONDO:0032678 "OMIM:618328" HP:0002815 "UMLS:C4025676" MONDO:0020294 "Orphanet:98727" -MONDO:0020294 "ICD10:Q21.1" +MONDO:0020294 "ICD10CM:Q21.1" MONDO:0010058 "UMLS:CN074295" MONDO:0010058 "OMIM:271220" MONDO:0012258 "Orphanet:158681" MONDO:0012258 "MESH:C563730" MONDO:0012258 "SCTID:716700003" +MONDO:0012258 "ICD10CM:Q81.0" MONDO:0012258 "UMLS:C1836284" -MONDO:0012258 "ICD10:Q81.0" MONDO:0012258 "OMIM:609352" MONDO:0011004 "SCTID:718720007" MONDO:0011004 "OMIM:601160" -MONDO:0011004 "ICD10:Q04.3" MONDO:0011004 "MESH:C563383" MONDO:0011004 "UMLS:C1832678" +MONDO:0011004 "ICD10CM:Q04.3" MONDO:0011004 "Orphanet:86822" MONDO:0014227 "UMLS:C3809781" MONDO:0014227 "ICD9:757.39" MONDO:0014227 "OMIM:615522" +MONDO:0014227 "ICD10CM:Q82.8" MONDO:0014227 "SCTID:711154007" MONDO:0014227 "Orphanet:324561" -MONDO:0014227 "ICD10:Q82.8" MONDO:0014227 "GARD:0012384" NCBITaxon:5765 "GC_ID:1" MONDO:0005252 "EFO:0003144" @@ -109035,10 +106290,10 @@ MONDO:0005252 "ICD9:428.9" MONDO:0005252 "ICD9:428" MONDO:0005252 "UMLS:CN236639" MONDO:0017447 "Orphanet:294988" -MONDO:0017447 "ICD10:Q71.3" +MONDO:0017447 "ICD10CM:Q71.3" MONDO:0008769 "DOID:0110726" -MONDO:0008769 "ICD10:E75.4" MONDO:0008769 "GARD:0003045" +MONDO:0008769 "ICD10CM:E75.4" MONDO:0008769 "Orphanet:228349" MONDO:0008769 "OMIM:204500" MONDO:0008769 "Orphanet:79264" @@ -109046,13 +106301,12 @@ MONDO:0008769 "Orphanet:168491" MONDO:0008769 "NCIT:C85864" MONDO:0013007 "Orphanet:317428" MONDO:0013007 "MESH:C557826" -MONDO:0013007 "ICD10:D81.8" MONDO:0013007 "UMLS:C2748568" MONDO:0013007 "GARD:0010524" MONDO:0013007 "OMIM:612782" MONDO:0013007 "Orphanet:169090" +MONDO:0013007 "ICD10CM:D81.8" MONDO:0016642 "MedDRA:10027191" -MONDO:0016642 "ICD10:D32.9" MONDO:0016642 "HP:0002858" MONDO:0016642 "NCIT:C3230" MONDO:0016642 "GARD:0007015" @@ -109064,39 +106318,39 @@ MONDO:0016642 "UMLS:C0025286" MONDO:0016642 "UMLS:C0025284" MONDO:0016642 "MESH:D008579" MONDO:0016642 "SCTID:302820008" +MONDO:0016642 "ICD10CM:D32.9" MONDO:0016642 "DOID:3565" MONDO:0016642 "NCIT:C3229" MONDO:0016642 "OMIM:606190" MONDO:0008606 "OMIM:190650" MONDO:0008606 "GARD:0000242" +MONDO:0008606 "ICD10CM:Q74.8" MONDO:0008606 "MESH:C536619" MONDO:0008606 "UMLS:C1860805" -MONDO:0008606 "ICD10:Q74.8" MONDO:0008606 "Orphanet:3133" MONDO:0024378 "SCTID:31537005" -MONDO:0024378 "ICD10:G47.22" +MONDO:0024378 "ICD10CM:G47.22" MONDO:0024378 "ICD9:327.32" -MONDO:0020481 "ICD10:G71.1" MONDO:0020481 "OMIM:608390" MONDO:0020481 "Orphanet:99734" MONDO:0020481 "NCIT:C122789" +MONDO:0020481 "ICD10CM:G71.1" MONDO:0020481 "UMLS:C0752355" MONDO:0020481 "SCTID:715788001" -MONDO:0011499 "ICD10:Q87.8" MONDO:0011499 "GARD:0004064" +MONDO:0011499 "ICD10CM:Q87.8" MONDO:0011499 "UMLS:C1858043" MONDO:0011499 "MESH:C565736" MONDO:0011499 "Orphanet:2729" MONDO:0011499 "OMIM:604916" MONDO:0011499 "SCTID:722065002" MONDO:0012445 "UMLS:C1857744" -MONDO:0012445 "ICD10:H90.3" MONDO:0012445 "DOID:0110511" MONDO:0012445 "OMIM:610220" MONDO:0012445 "MESH:C565698" MONDO:0007409 "Orphanet:1547" +MONDO:0007409 "ICD10CM:Q87.8" MONDO:0007409 "MESH:C536219" -MONDO:0007409 "ICD10:Q87.8" MONDO:0007409 "SCTID:725096002" MONDO:0007409 "UMLS:C1852454" MONDO:0007409 "GARD:0008174" @@ -109106,8 +106360,8 @@ MONDO:0016688 "UMLS:C0334582" MONDO:0016688 "MedDRA:10065889" MONDO:0016688 "DOID:6726" MONDO:0016688 "NCIT:C4322" +MONDO:0016688 "ICD10CM:C71.9" MONDO:0016688 "MESH:D001254" -MONDO:0016688 "ICD10:C71.9" MONDO:0016688 "ICDO:9420/3" MONDO:0016688 "Orphanet:251601" MONDO:0032749 "OMIM:618434" @@ -109119,7 +106373,7 @@ MONDO:0006693 "MESH:D002539" MONDO:0006693 "DOID:3527" MONDO:0006693 "EFO:1000859" MONDO:0006693 "UMLS:C0007774" -MONDO:0018888 "ICD10:Q13.4" +MONDO:0018888 "ICD10CM:Q13.4" MONDO:0018888 "OMIM:121400" MONDO:0018888 "Orphanet:53691" MONDO:0018888 "OMIM:217300" @@ -109127,7 +106381,7 @@ MONDO:0044245 "OMIM:161100" MONDO:0011225 "DOID:0060006" MONDO:0011225 "GARD:0009987" MONDO:0011225 "DOID:0090012" -MONDO:0011225 "ICD10:D81.1" +MONDO:0011225 "ICD10CM:D81.1" MONDO:0011225 "Orphanet:275" MONDO:0011225 "OMIM:602450" MONDO:0011225 "OMIM:603554" @@ -109142,12 +106396,11 @@ MONDO:0018029 "OMIM:613225" MONDO:0018029 "SCTID:50189006" MONDO:0018029 "NCIT:C131633" MONDO:0018029 "OMIM:613235" -MONDO:0018029 "ICD10:D68.2" MONDO:0018029 "GARD:0010766" +MONDO:0018029 "ICD10CM:D68.2" MONDO:0018029 "Orphanet:331" MONDO:0018029 "ICD9:286.3" MONDO:0018029 "DOID:2211" -MONDO:0014624 "ICD10:H50.61" MONDO:0014624 "SCTID:35929003" MONDO:0014624 "UMLS:C0155339" MONDO:0014624 "DOID:10235" @@ -109156,7 +106409,6 @@ MONDO:0014624 "GARD:0005963" MONDO:0014624 "ICD9:378.61" MONDO:0015502 "Orphanet:156243" MONDO:0009210 "OMIM:227400" -MONDO:0009210 "ICD10:D68.2" MONDO:0009210 "MedDRA:10048930" MONDO:0009210 "SCTID:88776002" MONDO:0009210 "UMLS:C0015499" @@ -109164,6 +106416,7 @@ MONDO:0009210 "Orphanet:326" MONDO:0009210 "NCIT:C98938" MONDO:0009210 "MESH:D005166" MONDO:0009210 "GARD:0002237" +MONDO:0009210 "ICD10CM:D68.2" MONDO:0009210 "DOID:2216" MONDO:0060768 "SCTID:235001002" MONDO:0060768 "NCIT:C4693" @@ -109171,11 +106424,11 @@ MONDO:0060768 "UMLS:C0399441" MONDO:0023670 "OMIM:619471" MONDO:0010487 "UMLS:C3806746" MONDO:0010487 "OMIM:300919" +MONDO:0020552 "ICD10CM:D39.2" MONDO:0020552 "UMLS:C0206666" MONDO:0020552 "ICDO:9104/1" MONDO:0020552 "DOID:3596" MONDO:0020552 "NCIT:C3757" -MONDO:0020552 "ICD10:D39.2" MONDO:0020552 "MESH:D018245" MONDO:0020552 "EFO:1001111" MONDO:0020552 "SCTID:237252008" @@ -109191,8 +106444,8 @@ MONDO:0012760 "DOID:0111320" MONDO:0012760 "OMIM:611934" MONDO:0008013 "GARD:0003773" MONDO:0008013 "MESH:C538024" +MONDO:0008013 "ICD10CM:Q93.5" MONDO:0008013 "SCTID:62599000" -MONDO:0008013 "ICD10:Q93.5" MONDO:0008013 "ICD9:758.39" MONDO:0008013 "Orphanet:261112" MONDO:0008013 "OMIM:158170" @@ -109201,24 +106454,24 @@ MONDO:0012666 "OMIM:611403" MONDO:0018216 "OMIM:610443" MONDO:0018216 "UMLS:CN204740" MONDO:0018216 "SCTID:717338006" +MONDO:0018216 "ICD10CM:Q93.5" MONDO:0018216 "DOID:0050880" MONDO:0018216 "MESH:C566476" MONDO:0018216 "DOID:0070076" -MONDO:0018216 "ICD10:Q93.5" MONDO:0018216 "UMLS:C1864871" MONDO:0018216 "Orphanet:363958" +MONDO:0016904 "ICD10CM:Q93.5" MONDO:0016904 "Orphanet:262038" -MONDO:0016904 "ICD10:Q93.5" MONDO:0011091 "UMLS:C1832274" MONDO:0011091 "MESH:C537993" MONDO:0011091 "NCIT:C122659" MONDO:0011091 "Orphanet:99938" MONDO:0011091 "UMLS:C4274109" -MONDO:0011091 "ICD10:G60.0" MONDO:0011091 "GARD:0001251" MONDO:0011091 "DOID:0110164" MONDO:0011091 "SCTID:717011006" MONDO:0011091 "OMIM:601472" +MONDO:0011091 "ICD10CM:G60.0" HP:0000025 "UMLS:C4025898" MONDO:0004427 "SCTID:126697005" MONDO:0004427 "UMLS:C0345726" @@ -109228,7 +106481,6 @@ MONDO:0001613 "UMLS:C0042568" MONDO:0001613 "ICD9:435.3" MONDO:0001613 "DOID:13003" MONDO:0001613 "EFO:1001449" -MONDO:0001613 "ICD10:G45.0" MONDO:0001613 "SCTID:195199008" MONDO:0001613 "MESH:D014715" MONDO:0007180 "MESH:C566234" @@ -109241,15 +106493,15 @@ MONDO:0007516 "Orphanet:1888" MONDO:0007516 "MESH:C565065" MONDO:0100405 "NCIT:C168771" MONDO:0033668 "OMIM:619086" -MONDO:0016258 "ICD10:C54.0" +MONDO:0016258 "ICD10CM:C54.8" MONDO:0016258 "NCIT:C40182" MONDO:0016258 "UMLS:C1883485" -MONDO:0016258 "ICD10:C54.8" +MONDO:0016258 "ICD10CM:C54.2" MONDO:0016258 "ICDO:8934/3" MONDO:0016258 "Orphanet:213605" -MONDO:0016258 "ICD10:C54.2" -MONDO:0016258 "ICD10:C54.1" -MONDO:0016258 "ICD10:C54.3" +MONDO:0016258 "ICD10CM:C54.3" +MONDO:0016258 "ICD10CM:C54.0" +MONDO:0016258 "ICD10CM:C54.1" HP:0002204 "MSH:D011655" HP:0002204 "UMLS:C0034065" HP:0002204 "SNOMEDCT_US:59282003" @@ -109258,8 +106510,8 @@ MONDO:0000343 "DOID:0050517" MONDO:0019634 "SCTID:763532008" MONDO:0019634 "UMLS:CN206502" MONDO:0019634 "Orphanet:922" -MONDO:0019634 "ICD10:Q30.8" MONDO:0019634 "GARD:0002254" +MONDO:0019634 "ICD10CM:Q30.8" MONDO:0004085 "UMLS:C1333024" MONDO:0004085 "DOID:7041" MONDO:0004085 "NCIT:C6102" @@ -109272,17 +106524,15 @@ MONDO:0005031 "SCTID:723976005" MONDO:0005031 "OMIM:135290" MONDO:0005031 "NCIT:C3042" MONDO:0002041 "SCTID:3218000" -MONDO:0002041 "ICD10:B49" MONDO:0002041 "DOID:1564" -MONDO:0002041 "ICD10:B35.B49" MONDO:0002041 "ICD9:110-118.99" MONDO:0002041 "NCIT:C3245" -MONDO:0002041 "ICD10:B35-B49" +MONDO:0002041 "ICD10CM:B35-B49" MONDO:0002041 "MESH:D009181" MONDO:0002041 "ICD9:117.9" MONDO:0018437 "Orphanet:402026" MONDO:0018437 "SCTID:763309005" -MONDO:0018437 "ICD10:C92.0" +MONDO:0018437 "ICD10CM:C92.0" MONDO:0008548 "OMIM:187650" MONDO:0008548 "UMLS:C1861211" MONDO:0000601 "DOID:0060049" @@ -109296,8 +106546,8 @@ MONDO:0013153 "MESH:C567728" MONDO:0013153 "OMIM:613148" MONDO:0017699 "OMIM:232500" MONDO:0017699 "Orphanet:308684" -MONDO:0017699 "ICD10:E74.0" MONDO:0017699 "MedDRA:10053250" +MONDO:0017699 "ICD10CM:E74.0" MONDO:0012048 "NCIT:C34532" MONDO:0012048 "NCIT:C35094" MONDO:0012048 "EFO:0003761" @@ -109313,7 +106563,6 @@ MONDO:0022071 "GARD:0001089" MONDO:0022071 "SCTID:238700008" MONDO:0003482 "SCTID:25188002" MONDO:0003482 "DOID:5513" -MONDO:0003482 "ICD10:B85.1" MONDO:0003482 "UMLS:C0030758" MONDO:0003482 "ICD9:132.1" MONDO:0005102 "UMLS:C0855073" @@ -109336,7 +106585,7 @@ MONDO:0004301 "ONCOTREE:FIOS" MONDO:0004301 "UMLS:C0279602" MONDO:0020073 "UMLS:CN206977" MONDO:0020073 "Orphanet:98260" -MONDO:0020073 "ICD10:G40.4" +MONDO:0020073 "ICD10CM:G40.4" MONDO:0003104 "UMLS:C1290403" MONDO:0003104 "UMLS:C2607932" MONDO:0003104 "NCIT:C5347" @@ -109368,31 +106617,29 @@ MONDO:0005742 "UMLS:C0521610" MONDO:0005742 "DOID:9765" MONDO:0009484 "OMIM:244400" MONDO:0009484 "Orphanet:98861" -MONDO:0009484 "ICD10:Q34.8" MONDO:0009484 "DOID:0110594" MONDO:0020787 "OMIM:616418" +MONDO:0011668 "NCIT:C129745" MONDO:0011668 "GARD:0010660" MONDO:0011668 "SCTID:609573005" -MONDO:0011668 "Orphanet:552" -MONDO:0011668 "MESH:C565231" -MONDO:0011668 "UMLS:C1853371" -MONDO:0011668 "NCIT:C129745" MONDO:0011668 "OMIM:606394" MONDO:0011668 "DOID:0111104" +MONDO:0011668 "MESH:C565231" +MONDO:0011668 "UMLS:C1853371" +MONDO:0011668 "Orphanet:552" MONDO:0021491 "NCIT:C4598" MONDO:0021491 "UMLS:C0347201" MONDO:0021491 "SCTID:92126004" MONDO:0021491 "ICD9:210.4" CL:1000510 "KUPO:0001023" -MONDO:0030801 "OMIM:619041" MONDO:0003989 "NCIT:C39990" MONDO:0003989 "DOID:6774" MONDO:0003989 "ONCOTREE:OPE" MONDO:0003989 "UMLS:C1514199" +MONDO:0030801 "OMIM:619041" MONDO:0014093 "UMLS:C3715216" MONDO:0014093 "Orphanet:791" MONDO:0014093 "OMIM:615233" -MONDO:0014093 "ICD10:H35.5" MONDO:0014093 "DOID:0110393" MONDO:0010581 "OMIM:304800" MONDO:0010581 "Orphanet:223" @@ -109406,7 +106653,6 @@ MONDO:0012610 "MESH:C567021" MONDO:0012610 "DOID:0110885" MONDO:0007921 "NCIT:C85238" MONDO:0007921 "DOID:0050468" -MONDO:0007921 "ICD10:L60.5" MONDO:0007921 "GARD:0000184" MONDO:0007921 "OMIM:153300" MONDO:0007921 "MedDRA:10048244" @@ -109416,6 +106662,7 @@ MONDO:0007921 "Orphanet:662" MONDO:0007921 "EFO:1001452" MONDO:0007921 "ICD9:703.8" MONDO:0007921 "SCTID:400211001" +MONDO:0007921 "ICD10CM:L60.5" MONDO:0007921 "MESH:D056684" MONDO:0032914 "OMIM:618781" NCBITaxon:1980476 "GC_ID:1" @@ -109435,39 +106682,37 @@ MONDO:0016037 "EFO:1000556" MONDO:0016037 "ICD9:729.99" MONDO:0016037 "UMLS:C0406571" MONDO:0016037 "Orphanet:199257" -MONDO:0016037 "ICD10:M72.8" MONDO:0016037 "SCTID:238853007" +MONDO:0016037 "ICD10CM:M72.8" MONDO:0016037 "NCIT:C6814" -MONDO:0004983 "ICD9:606.0" -MONDO:0004983 "MESH:D053713" -MONDO:0004983 "OMIMPS:258150" -MONDO:0004983 "OMIM:108420" -MONDO:0004983 "EFO:0000279" -MONDO:0004983 "ICD10:N46.01" -MONDO:0004983 "UMLS:C0004509" -MONDO:0004983 "OMIM:612997" -MONDO:0004983 "NCIT:C80076" -MONDO:0004983 "OMIM:415000" -MONDO:0004983 "OMIM:615081" -MONDO:0004983 "OMIM:270960" -MONDO:0004983 "OMIM:615841" +MONDO:0004983 "OMIM:613958" MONDO:0004983 "DOID:14227" -MONDO:0004983 "OMIM:258150" MONDO:0004983 "OMIM:613957" -MONDO:0004983 "OMIM:606766" +MONDO:0004983 "OMIM:108420" +MONDO:0004983 "OMIM:615413" MONDO:0004983 "OMIM:309120" -MONDO:0004983 "OMIM:614822" +MONDO:0004983 "OMIM:606766" +MONDO:0004983 "MESH:D053713" +MONDO:0004983 "UMLS:C0004509" MONDO:0004983 "OMIM:243060" -MONDO:0004983 "OMIM:615842" +MONDO:0004983 "OMIM:258150" +MONDO:0004983 "OMIM:615841" MONDO:0004983 "SCTID:425558002" -MONDO:0004983 "OMIM:613958" -MONDO:0004983 "OMIM:615413" -MONDO:0004983 "ICD10:N46.0" +MONDO:0004983 "OMIM:615081" +MONDO:0004983 "NCIT:C80076" +MONDO:0004983 "OMIMPS:258150" +MONDO:0004983 "ICD9:606.0" +MONDO:0004983 "OMIM:614822" +MONDO:0004983 "OMIM:612997" +MONDO:0004983 "EFO:0000279" +MONDO:0004983 "OMIM:615842" +MONDO:0004983 "OMIM:415000" +MONDO:0004983 "OMIM:270960" MONDO:0004983 "OMIM:102530" MONDO:0008472 "OMIM:184000" MONDO:0008472 "UMLS:C1866719" -MONDO:0008472 "ICD10:Q77.7" MONDO:0008472 "Orphanet:163668" +MONDO:0008472 "ICD10CM:Q77.7" MONDO:0008472 "MESH:C566659" MONDO:0014101 "Orphanet:899" MONDO:0014101 "OMIM:615249" @@ -109482,20 +106727,19 @@ MONDO:0007275 "UMLS:C0007286" MONDO:0007275 "SCTID:57406009" MONDO:0007275 "ICD9:354.0" MONDO:0007275 "NCIT:C34450" -MONDO:0007275 "ICD10:G56.00" MONDO:0007275 "EFO:0004143" MONDO:0007275 "Orphanet:50838" MONDO:0007275 "DOID:12169" -MONDO:0007275 "ICD10:G56.0" MONDO:0007275 "MESH:D002349" +MONDO:0007275 "ICD10CM:G56.0" MONDO:0007275 "OMIM:613353" MONDO:0007275 "OMIMPS:115430" -MONDO:0016906 "ICD10:Q93.5" MONDO:0016906 "GARD:0003765" +MONDO:0016906 "ICD10CM:Q93.5" MONDO:0016906 "Orphanet:262056" MONDO:0016906 "NCIT:C36408" MONDO:0017478 "Orphanet:295053" -MONDO:0017478 "ICD10:Q71.0" +MONDO:0017478 "ICD10CM:Q71.0" MONDO:0008316 "Orphanet:745" MONDO:0008316 "OMIM:176860" MONDO:0012831 "OMIM:612244" @@ -109504,28 +106748,28 @@ MONDO:0012831 "DOID:0110893" MONDO:0012831 "UMLS:C2677101" MONDO:0009874 "SCTID:33559001" MONDO:0009874 "MESH:D056731" -MONDO:0009874 "ICD10:E13" MONDO:0009874 "Orphanet:769" MONDO:0009874 "UMLS:C0271695" +MONDO:0009874 "ICD10CM:E13" MONDO:0009874 "ICD9:259.8" MONDO:0009874 "GARD:0000226" MONDO:0009874 "NCIT:C131000" MONDO:0009874 "OMIM:262190" -MONDO:0024252 "Orphanet:488613" MONDO:0014429 "UMLS:C4014863" MONDO:0014429 "Orphanet:319581" +MONDO:0014429 "ICD10CM:D84.8" MONDO:0014429 "OMIM:615978" -MONDO:0014429 "ICD10:D84.8" +MONDO:0024252 "Orphanet:488613" MONDO:0100407 "NCIT:C131504" MONDO:0100407 "NCIT:C131505" -MONDO:0013342 "ICD10:G11.4" +MONDO:0013342 "ICD10CM:G11.4" MONDO:0013342 "UMLS:C3150901" MONDO:0013342 "SCTID:763367009" MONDO:0013342 "DOID:0110800" MONDO:0013342 "Orphanet:306511" MONDO:0013342 "OMIM:613647" MONDO:0007119 "OMIM:617142" -MONDO:0007119 "ICD10:Q13.1" +MONDO:0007119 "ICD10CM:Q13.1" MONDO:0007119 "UMLS:C0003076" MONDO:0007119 "Orphanet:250923" MONDO:0007119 "OMIM:106210" @@ -109542,25 +106786,24 @@ MONDO:0020920 "EFO:1001318" MONDO:0020920 "GTR:AN0474198" MONDO:0020920 "GTR:AN0485754" MONDO:0020920 "NCIT:C34594" -MONDO:0013907 "ICD10:Q04.3" MONDO:0013907 "UMLS:C3553831" MONDO:0013907 "OMIM:614833" MONDO:0013907 "Orphanet:268940" MONDO:0013907 "GARD:0010786" MONDO:0013907 "Orphanet:208447" +MONDO:0013907 "ICD10CM:Q04.3" MONDO:0018082 "HP:0011627" MONDO:0018082 "UMLS:CN225932" -MONDO:0018082 "ICD10:Q20.8" MONDO:0018082 "Orphanet:3400" +MONDO:0018082 "ICD10CM:Q20.8" MONDO:0019413 "UMLS:CN206143" MONDO:0019413 "UMLS:C4274732" MONDO:0019413 "Orphanet:85200" -MONDO:0019413 "ICD10:Q77.8" +MONDO:0019413 "ICD10CM:Q77.8" MONDO:0019413 "SCTID:715654001" MONDO:0000603 "DOID:0060051" MONDO:0009757 "DOID:0070113" MONDO:0009757 "NCIT:C126864" -MONDO:0009757 "ICD10:E75.2" MONDO:0009757 "SCTID:18927009" MONDO:0009757 "Orphanet:646" MONDO:0009757 "GARD:0007207" @@ -109576,11 +106819,11 @@ MONDO:0014783 "UMLS:C4225197" MONDO:0008713 "DOID:0050605" MONDO:0008713 "ICD9:686.8" MONDO:0008713 "SCTID:37702000" +MONDO:0008713 "ICD10CM:E83.2" MONDO:0008713 "NCIT:C128802" MONDO:0008713 "GARD:0006343" MONDO:0008713 "Orphanet:37" MONDO:0008713 "OMIM:201100" -MONDO:0008713 "ICD10:E83.2" MONDO:0008713 "UMLS:C0221036" MONDO:0008713 "MESH:C538178" MONDO:0008713 "GARD:0005723" @@ -109600,11 +106843,11 @@ MONDO:0006732 "ICD9:333.99" MONDO:0006732 "GARD:0008236" MONDO:0006732 "SCTID:102448004" MONDO:0018927 "MESH:D050798" -MONDO:0018927 "ICD10:G44.8" MONDO:0018927 "SCTID:725058003" MONDO:0018927 "GARD:0009257" MONDO:0018927 "UMLS:C1262087" MONDO:0018927 "Orphanet:57145" +MONDO:0018927 "ICD10CM:G44.8" MONDO:0018927 "MedDRA:10061981" MONDO:0018927 "NCIT:C85174" MONDO:0003261 "UMLS:C1332902" @@ -109625,11 +106868,11 @@ MONDO:0006778 "MedDRA:10062794" MONDO:0100282 "OMIM:269000" MONDO:0100282 "Orphanet:3103" MONDO:0100282 "DOID:0050536" -MONDO:0015325 "ICD10:Q87.8" +MONDO:0015325 "ICD10CM:Q87.8" MONDO:0015325 "Orphanet:1383" MONDO:0015325 "MESH:C536626" MONDO:0015325 "SCTID:722378009" -MONDO:0015715 "ICD10:D67" +MONDO:0015715 "ICD10CM:D67" MONDO:0015715 "Orphanet:169793" MONDO:0015715 "UMLS:CN200227" MONDO:0060642 "UMLS:CN800196" @@ -109642,8 +106885,8 @@ MONDO:0002366 "DOID:2621" MONDO:0001112 "SCTID:58750007" MONDO:0001112 "DOID:10773" MONDO:0001112 "MESH:D010930" +MONDO:0001112 "ICD10CM:A20.0" MONDO:0001112 "ICD9:020.0" -MONDO:0001112 "ICD10:A20.0" MONDO:0001112 "UMLS:C0282312" MONDO:0001112 "GARD:0000183" MONDO:0001112 "SCTID:50797007" @@ -109656,17 +106899,17 @@ MONDO:0010431 "MESH:C567582" MONDO:0010431 "UMLS:C2749019" MONDO:0016898 "GARD:0003739" MONDO:0016898 "UMLS:CN036364" -MONDO:0016898 "ICD10:Q93.5" +MONDO:0016898 "ICD10CM:Q93.5" MONDO:0016898 "Orphanet:261992" MONDO:0016898 "MESH:C535370" MONDO:0020789 "OMIM:251290" MONDO:0000374 "DOID:0050613" MONDO:0006277 "OMIM:606690" MONDO:0006277 "GARD:0003319" -MONDO:0006277 "ICD10:D48.7" MONDO:0006277 "Orphanet:538" MONDO:0006277 "MedDRA:10049459" MONDO:0006277 "NCIT:C38153" +MONDO:0006277 "ICD10CM:D48.7" MONDO:0006277 "DOID:3319" MONDO:0006277 "ICD9:518.89" MONDO:0006277 "SCTID:277844007" @@ -109678,7 +106921,6 @@ MONDO:0024935 "MESH:D005535" MONDO:0024935 "UMLS:C0016513" MONDO:0018772 "OMIMPS:213300" MONDO:0018772 "OMIM:616654" -MONDO:0018772 "ICD10:Q04.3" MONDO:0018772 "OMIM:213300" MONDO:0018772 "OMIM:614615" MONDO:0018772 "OMIM:612291" @@ -109691,6 +106933,7 @@ MONDO:0018772 "OMIM:616781" MONDO:0018772 "SCTID:716997004" MONDO:0018772 "OMIM:614173" MONDO:0018772 "OMIM:617120" +MONDO:0018772 "ICD10CM:Q04.3" MONDO:0018772 "GARD:0006802" MONDO:0018772 "OMIM:616490" MONDO:0018772 "OMIM:614464" @@ -109704,7 +106947,6 @@ MONDO:0003768 "NCIT:C40205" MONDO:0003768 "ONCOTREE:SCEMU" MONDO:0003768 "DOID:6101" MONDO:0009653 "GTR:AN1124590" -MONDO:0009653 "ICD10:E75.1" MONDO:0009653 "UMLS:CN716584" MONDO:0009653 "SCTID:111384001" MONDO:0009653 "GTR:AN1125033" @@ -109713,6 +106955,7 @@ MONDO:0009653 "UMLS:C0238286" MONDO:0009653 "GTR:AN1148743" MONDO:0009653 "Orphanet:578" MONDO:0009653 "DOID:0080490" +MONDO:0009653 "ICD10CM:E75.1" MONDO:0009653 "NCIT:C84896" MONDO:0009653 "GARD:0000094" MONDO:0009653 "GTR:AN1125032" @@ -109720,13 +106963,13 @@ MONDO:0009306 "MESH:C567115" MONDO:0009306 "OMIM:233650" MONDO:0009306 "UMLS:C2673536" MONDO:0009306 "Orphanet:157949" -MONDO:0009306 "ICD10:D81.1" +MONDO:0009306 "ICD10CM:D81.1" HP:0000238 "UMLS:C0020255" HP:0000238 "MSH:D006849" HP:0000238 "SNOMEDCT_US:230745008" MONDO:0014399 "Orphanet:438134" MONDO:0014399 "UMLS:C4014676" -MONDO:0014399 "ICD10:G11.3" +MONDO:0014399 "ICD10CM:G11.3" MONDO:0014399 "OMIM:615919" MONDO:0100399 "NCIT:C122717" MONDO:0100399 "NCIT:C36406" @@ -109737,16 +106980,17 @@ MONDO:0011833 "UMLS:C4305144" MONDO:0011833 "UMLS:C1843891" MONDO:0011833 "DOID:0050972" MONDO:0011833 "OMIM:607454" +MONDO:0011833 "ICD10CM:G11.1" MONDO:0011833 "SCTID:718774001" MONDO:0011833 "Orphanet:98773" MONDO:0011833 "GARD:0009999" -MONDO:0011833 "ICD10:G11.1" HP:0003187 "SNOMEDCT_US:8915006" HP:0003187 "UMLS:C0266013" MONDO:0008251 "GARD:0007401" MONDO:0008251 "MESH:D010916" MONDO:0008251 "UMLS:C2930842" MONDO:0008251 "Orphanet:2897" +MONDO:0008251 "ICD10CM:L44.0" MONDO:0008251 "MESH:C531784" MONDO:0008251 "SCTID:3755001" MONDO:0008251 "ICD9:696.4" @@ -109754,25 +106998,24 @@ MONDO:0008251 "OMIM:173200" MONDO:0008251 "UMLS:C0032027" MONDO:0008251 "NCIT:C85014" MONDO:0008251 "MedDRA:10035116" -MONDO:0008251 "ICD10:L44.0" MONDO:0008251 "DOID:9212" MONDO:0017370 "UMLS:CN203043" MONDO:0017370 "Orphanet:290842" MONDO:0016202 "Orphanet:209867" MONDO:0016202 "OMIM:609508" -MONDO:0016202 "ICD10:H33.0" +MONDO:0016202 "ICD10CM:H33.0" MONDO:0016202 "UMLS:C1836081" MONDO:0020741 "Orphanet:3006" MONDO:0020741 "UMLS:C1849508" MONDO:0020741 "OMIM:266100" MONDO:0017760 "UMLS:CN227204" MONDO:0017760 "Orphanet:309833" -MONDO:0022754 "MESH:C538045" -MONDO:0022754 "Orphanet:261965" MONDO:0022754 "UMLS:CN036220" MONDO:0022754 "NCIT:C36499" +MONDO:0022754 "ICD10CM:Q93.5" +MONDO:0022754 "Orphanet:261965" MONDO:0022754 "GARD:0006075" -MONDO:0022754 "ICD10:Q93.5" +MONDO:0022754 "MESH:C538045" MONDO:0000595 "EFO:0004714" MONDO:0000595 "NCIT:C92202" MONDO:0000595 "SCTID:231532002" @@ -109801,13 +107044,13 @@ MONDO:0007726 "OMIM:142669" MONDO:0007726 "Orphanet:2114" MONDO:0007726 "MESH:C564185" MONDO:0007726 "GARD:0002690" -MONDO:0007726 "ICD10:Q65.8" +MONDO:0007726 "ICD10CM:Q65.8" MONDO:0007726 "SCTID:721148005" MONDO:0007726 "DOID:0111367" -MONDO:0011728 "ICD10:G24.5" MONDO:0011728 "DOID:529" MONDO:0011728 "SCTID:59026006" MONDO:0011728 "NCIT:C118723" +MONDO:0011728 "ICD10CM:G24.5" MONDO:0011728 "OMIM:606798" MONDO:0011728 "ICD9:333.81" MONDO:0011728 "MESH:D001764" @@ -109821,13 +107064,13 @@ MONDO:0010958 "SCTID:764457005" MONDO:0010958 "Orphanet:768" MONDO:0010958 "DOID:0111701" MONDO:0010958 "OMIM:600919" -MONDO:0011904 "ICD10:G40.4" MONDO:0011904 "Orphanet:140927" MONDO:0011904 "OMIM:607745" MONDO:0011904 "UMLS:C1843140" MONDO:0011904 "MedDRA:10067866" MONDO:0011904 "GARD:0001518" MONDO:0011904 "Orphanet:306" +MONDO:0011904 "ICD10CM:G40.4" MONDO:0014817 "OMIM:616892" MONDO:0014817 "UMLS:C4225166" MONDO:0014817 "DOID:0080387" @@ -109837,13 +107080,12 @@ MONDO:0001997 "MESH:D012391" MONDO:0001997 "UMLS:C0035851" MONDO:0017643 "Orphanet:306708" MONDO:0017643 "UMLS:CN227167" -MONDO:0008965 "ICD10:Q89.8" +MONDO:0008965 "ICD10CM:Q87.8" MONDO:0008965 "GARD:0000029" MONDO:0008965 "MESH:D058747" MONDO:0008965 "ICD9:759.89" MONDO:0008965 "Orphanet:138" MONDO:0008965 "NCIT:C75100" -MONDO:0008965 "ICD10:Q87.8" MONDO:0008965 "MedDRA:10064063" MONDO:0008965 "SCTID:47535005" MONDO:0008965 "UMLS:C0265354" @@ -109851,7 +107093,6 @@ MONDO:0008965 "OMIM:214800" MONDO:0008965 "DOID:0050834" MONDO:0001177 "SCTID:197216007" MONDO:0001177 "ICD9:569.2" -MONDO:0001177 "ICD10:K62.4" MONDO:0001177 "DOID:11014" MONDO:0021175 "UMLS:C0019386" MONDO:0021175 "SCTID:27420004" @@ -109865,15 +107106,14 @@ MONDO:0004553 "ICD9:495.9" MONDO:0004553 "ICD9:495" MONDO:0004553 "NCIT:C34369" MONDO:0004553 "MESH:D000542" -MONDO:0004553 "ICD10:J67.9" MONDO:0004553 "DOID:841" MONDO:0032906 "OMIM:618770" MONDO:0010089 "Orphanet:99731" MONDO:0010089 "GARD:0005062" -MONDO:0010089 "ICD10:E72.1" MONDO:0010089 "MESH:C538141" MONDO:0010089 "SCTID:367368009" MONDO:0010089 "Orphanet:833" +MONDO:0010089 "ICD10CM:E72.1" MONDO:0010089 "OMIM:272300" MONDO:0010089 "DOID:0111270" MONDO:0011163 "MESH:C535698" @@ -109881,8 +107121,8 @@ MONDO:0011163 "OMIM:601887" MONDO:0011163 "GARD:0003367" MONDO:0011163 "Orphanet:423" MONDO:0008182 "UMLS:C1868660" +MONDO:0008182 "ICD10CM:Q10.3" MONDO:0008182 "OMIM:167730" -MONDO:0008182 "ICD10:Q10.3" MONDO:0008182 "MESH:C538338" MONDO:0008182 "SCTID:723411003" MONDO:0008182 "GARD:0003927" @@ -109905,27 +107145,26 @@ MONDO:0016729 "UMLS:C0474844" MONDO:0016729 "UMLS:CN201977" MONDO:0016729 "Orphanet:251934" MONDO:0016729 "NCIT:C4747" -MONDO:0011421 "ICD10:E88.8" MONDO:0011421 "OMIM:604273" MONDO:0011421 "DOID:0050768" MONDO:0011421 "Orphanet:254913" MONDO:0011421 "GARD:0001459" MONDO:0011421 "UMLS:C3276276" -MONDO:0018929 "ICD10:M85.3" MONDO:0018929 "GARD:0010910" MONDO:0018929 "UMLS:CN230280" +MONDO:0018929 "ICD10CM:M85.3" MONDO:0018929 "Orphanet:57196" NCBITaxon:119060 "GC_ID:11" NCBITaxon:119060 "PMID:16403855" MONDO:0019049 "Orphanet:68363" +MONDO:0013550 "ICD10CM:G71.0" MONDO:0013550 "SCTID:733489002" -MONDO:0013550 "ICD10:G71.0" MONDO:0013550 "OMIM:614065" MONDO:0013550 "UMLS:C4518807" MONDO:0013550 "UMLS:C3279722" MONDO:0013550 "Orphanet:63273" +MONDO:0012994 "ICD10CM:G24.1" MONDO:0012994 "GARD:0010365" -MONDO:0012994 "ICD10:G24.1" MONDO:0012994 "DOID:0111168" MONDO:0012994 "SCTID:45116002" MONDO:0012994 "ICD9:277.89" @@ -109942,15 +107181,15 @@ MONDO:0000408 "NCIT:C92780" MONDO:0000408 "UMLS:CN036067" MONDO:0000408 "DOID:0050696" MONDO:0012823 "OMIM:612232" -MONDO:0015717 "ICD10:D67" MONDO:0015717 "Orphanet:169799" +MONDO:0015717 "ICD10CM:D67" MONDO:0015717 "UMLS:CN200229" HP:0009714 "UMLS:C4024222" MONDO:0019236 "MedDRA:10061476" MONDO:0019236 "Orphanet:79191" MONDO:0005838 "MESH:D008368" MONDO:0005838 "EFO:0007357" -MONDO:0005838 "ICD10:B74.4" +MONDO:0005838 "ICD10CM:B74.4" MONDO:0005838 "Orphanet:2459" MONDO:0005838 "SCTID:240849009" MONDO:0005838 "DOID:1081" @@ -109977,7 +107216,6 @@ MONDO:0001849 "ICD9:376.10" MONDO:0001849 "SCTID:44729001" MONDO:0001849 "UMLS:C0155261" MONDO:0001849 "ICD9:376.1" -MONDO:0001849 "ICD10:H05.1" MONDO:0044783 "NCIT:C6870" MONDO:0044783 "ONCOTREE:SPC" HP:0012444 "SNOMEDCT_US:278849000" @@ -109993,7 +107231,7 @@ NCBITaxon:1239 "GC_ID:11" NCBITaxon:1239 "PMID:11542017" NCBITaxon:1239 "PMID:29458499" NCBITaxon:1239 "PMID:26654112" -MONDO:0040674 "ICD10:F52.3" +MONDO:0040674 "ICD10CM:F52.3" MONDO:0040674 "SCTID:82636008" MONDO:0011835 "Orphanet:402082" MONDO:0011835 "UMLS:CN226157" @@ -110001,14 +107239,14 @@ MONDO:0011835 "OMIM:613832" MONDO:0011835 "UMLS:C1843851" MONDO:0011835 "Orphanet:254881" MONDO:0011835 "OMIM:607459" -MONDO:0011835 "ICD10:G40.3" +MONDO:0011835 "ICD10CM:G40.3" MONDO:0011835 "GARD:0009998" MONDO:0011835 "DOID:0111276" -MONDO:0011835 "ICD10:G71.3" +MONDO:0011835 "ICD10CM:G71.3" MONDO:0011835 "UMLS:C1843852" MONDO:0011835 "Orphanet:70595" MONDO:0015191 "Orphanet:104077" -MONDO:0015191 "ICD10:K59.8" +MONDO:0015191 "ICD10CM:K59.8" MONDO:0016935 "Orphanet:262677" MONDO:0016935 "UMLS:C4518505" MONDO:0016935 "SCTID:726356000" @@ -110020,7 +107258,6 @@ MONDO:0006442 "EFO:1000561" MONDO:0009959 "MESH:D052919" MONDO:0009959 "OMIM:266510" MONDO:0009959 "Orphanet:772" -MONDO:0009959 "ICD10:G60.1" MONDO:0009959 "UMLS:C0282527" MONDO:0009959 "DOID:0050444" MONDO:0009959 "Orphanet:44" @@ -110033,10 +107270,10 @@ MONDO:0019307 "DOID:0060738" MONDO:0019307 "SCTID:724225008" MONDO:0019307 "Orphanet:79402" MONDO:0019307 "GARD:0012922" -MONDO:0019307 "ICD10:Q81.8" MONDO:0019307 "OMIM:226650" +MONDO:0019307 "ICD10CM:Q81.8" MONDO:0018633 "UMLS:CN237681" -MONDO:0018633 "ICD10:Q93.5" +MONDO:0018633 "ICD10CM:Q93.5" MONDO:0018633 "Orphanet:444051" MONDO:0004148 "UMLS:C1333753" MONDO:0004148 "ICDO:8503/3" @@ -110048,9 +107285,9 @@ MONDO:0006348 "UMLS:C2987240" MONDO:0033614 "OMIM:619027" MONDO:0017309 "UMLS:CN202885" MONDO:0017309 "SCTID:763839005" -MONDO:0017309 "ICD10:Q87.4" MONDO:0017309 "Orphanet:284979" MONDO:0017309 "UMLS:CN536247" +MONDO:0017309 "ICD10CM:Q87.4" MONDO:0016593 "SCTID:722968003" MONDO:0016593 "Orphanet:247242" CL:0002074 "FMA:67111" @@ -110068,6 +107305,9 @@ MONDO:0007883 "SCTID:71436005" MONDO:0007883 "MESH:C562721" MONDO:0007883 "ICD9:288.09" MONDO:0024348 "SCTID:400201008" +MONDO:0003287 "NCIT:C6998" +MONDO:0003287 "DOID:5126" +MONDO:0003287 "UMLS:C1334382" MONDO:0009172 "HP:0004387" MONDO:0009172 "MESH:D004760" MONDO:0009172 "EFO:1001481" @@ -110076,9 +107316,6 @@ MONDO:0009172 "ICD9:558.9" MONDO:0009172 "NCIT:C79573" MONDO:0009172 "SCTID:43752006" MONDO:0009172 "OMIM:226150" -MONDO:0003287 "NCIT:C6998" -MONDO:0003287 "DOID:5126" -MONDO:0003287 "UMLS:C1334382" NCBITaxon:4859 "GC_ID:1" MONDO:0012415 "OMIM:610131" MONDO:0012415 "Orphanet:254892" @@ -110094,16 +107331,15 @@ MONDO:0002072 "SCTID:404042005" MONDO:0002072 "UMLS:C0206094" CL:0000082 "BTO:0004299" MONDO:0005589 "EFO:0006315" -MONDO:0006663 "UMLS:C0004045" -MONDO:0006663 "ICD10:P84" -MONDO:0006663 "NCIT:C116313" -MONDO:0006663 "Orphanet:137577" MONDO:0006663 "GARD:0005857" -MONDO:0006663 "DOID:11088" MONDO:0006663 "SCTID:28314004" +MONDO:0006663 "DOID:11088" +MONDO:0006663 "UMLS:C0004045" +MONDO:0006663 "Orphanet:137577" MONDO:0006663 "ICD9:768.9" MONDO:0006663 "MESH:D001238" MONDO:0006663 "EFO:1000824" +MONDO:0006663 "NCIT:C116313" MONDO:0002358 "UMLS:C0595989" MONDO:0002358 "GARD:0006862" MONDO:0002358 "SCTID:276975007" @@ -110126,18 +107362,16 @@ MONDO:0005734 "SCTID:15566009" MONDO:0005734 "EFO:0007240" MONDO:0005734 "UMLS:C0013076" MONDO:0005734 "MESH:D004313" +MONDO:0015581 "ICD10CM:K76.8" MONDO:0015581 "Orphanet:163631" -MONDO:0015581 "ICD10:K76.8" MONDO:0003300 "NCIT:C5514" MONDO:0003300 "UMLS:C1332327" MONDO:0003300 "DOID:5146" CL:0002261 "FMA:70627" MONDO:0004671 "NCIT:C27790" MONDO:0004671 "ICD9:233.5" -MONDO:0004671 "ICD10:D00-D09" MONDO:0004671 "ICDO:8080/2" MONDO:0004671 "SCTID:398831006" -MONDO:0004671 "ICD10:D07.4" MONDO:0004671 "UMLS:C0154089" MONDO:0004671 "DOID:8872" MONDO:0011013 "OMIM:601198" @@ -110160,7 +107394,7 @@ MONDO:0000290 "UMLS:C4303098" MONDO:0000290 "UMLS:C0300934" MONDO:0021439 "UMLS:C0496901" MONDO:0021439 "SCTID:92296004" -MONDO:0021439 "ICD10:D35.2" +MONDO:0021439 "ICD10CM:D35.2" MONDO:0021439 "DOID:60009" MONDO:0021439 "NCIT:C4782" MONDO:0006850 "MedDRA:10026130" @@ -110177,25 +107411,25 @@ MONDO:0019160 "SCTID:715627004" MONDO:0015885 "UMLS:C3714619" MONDO:0015885 "NCIT:C113169" MONDO:0015885 "Orphanet:181368" -MONDO:0012638 "ICD10:Q11.2" MONDO:0012638 "Orphanet:77299" MONDO:0012638 "MESH:C566985" MONDO:0012638 "GARD:0009292" +MONDO:0012638 "ICD10CM:Q11.2" MONDO:0012638 "SCTID:720010009" MONDO:0012638 "OMIM:611222" -MONDO:0017738 "ICD10:E74.0" MONDO:0017738 "UMLS:CN203642" MONDO:0017738 "Orphanet:309337" +MONDO:0017738 "ICD10CM:E74.0" MONDO:0032874 "OMIM:618699" MONDO:0015464 "Orphanet:1521" -MONDO:0015464 "ICD10:Q87.8" MONDO:0015464 "UMLS:CN199598" MONDO:0015464 "SCTID:720757001" +MONDO:0015464 "ICD10CM:Q87.8" MONDO:0006828 "ICD9:446.3" -MONDO:0006828 "ICD10:M31.2" MONDO:0006828 "MESH:D006103" MONDO:0006828 "EFO:1001013" MONDO:0006828 "MedDRA:10024255" +MONDO:0006828 "ICD10CM:M31.2" MONDO:0006828 "NCIT:C8196" MONDO:0006828 "DOID:9072" MONDO:0002579 "NCIT:C6246" @@ -110207,12 +107441,11 @@ MONDO:0006030 "EFO:1000023" MONDO:0006030 "UMLS:C0221763" MONDO:0006030 "NCIT:C27008" MONDO:0006030 "DOID:1680" -MONDO:0006030 "ICD10:N30.2" MONDO:0006030 "SCTID:33655002" MONDO:0022577 "GARD:0000892" MONDO:0020490 "MESH:C535454" MONDO:0020490 "Orphanet:99776" -MONDO:0020490 "ICD10:Q92.1" +MONDO:0020490 "ICD10CM:Q92.1" MONDO:0020490 "GARD:0000043" MONDO:0020490 "UMLS:CN035918" MONDO:0020490 "SCTID:764989007" @@ -110232,15 +107465,15 @@ CL:0000147 "VHOG:0001678" MONDO:0018342 "OMIM:615636" MONDO:0018342 "SCTID:733418003" MONDO:0018342 "OMIM:616546" -MONDO:0018342 "ICD10:Q04.3" MONDO:0018342 "UMLS:CN225944" +MONDO:0018342 "ICD10CM:Q04.3" MONDO:0018342 "Orphanet:397715" MONDO:0018342 "UMLS:C4518774" MONDO:0012825 "OMIM:612237" -MONDO:0012825 "ICD10:C49.9" MONDO:0012825 "ONCOTREE:EMCHS" MONDO:0012825 "NCIT:C27502" MONDO:0012825 "SCTID:404079008" +MONDO:0012825 "ICD10CM:C49.9" MONDO:0012825 "MESH:C563195" MONDO:0012825 "DOID:6496" MONDO:0012825 "ICD9:171.9" @@ -110257,18 +107490,17 @@ MONDO:0014471 "OMIM:616045" MONDO:0014471 "OMIM:615228" MONDO:0014471 "OMIMPS:604273" MONDO:0014471 "OMIM:614053" -MONDO:0014471 "ICD10:E88.8" +MONDO:0014471 "ICD10CM:E88.8" MONDO:0014471 "DOID:0111143" MONDO:0014471 "OMIM:604273" MONDO:0100039 "GARD:0012173" +MONDO:0019422 "ICD10CM:Q87.8" MONDO:0019422 "UMLS:CN206178" MONDO:0019422 "SCTID:718909001" MONDO:0019422 "Orphanet:85325" -MONDO:0019422 "ICD10:Q87.8" MONDO:0006537 "DOID:12304" MONDO:0006537 "UMLS:C0155163" MONDO:0006537 "ICD9:372.55" -MONDO:0006537 "ICD10:H11.13" MONDO:0006537 "EFO:1000682" MONDO:0006537 "SCTID:66081003" MONDO:0004263 "NCIT:C6773" @@ -110276,10 +107508,10 @@ MONDO:0004263 "DOID:7522" MONDO:0004263 "UMLS:C1332972" MONDO:0018225 "SCTID:715950008" MONDO:0018225 "ICDO:9737/3" -MONDO:0018225 "ICD10:C83.3" MONDO:0018225 "NCIT:C7225" MONDO:0018225 "UMLS:C1333294" MONDO:0018225 "Orphanet:364043" +MONDO:0018225 "ICD10CM:C83.3" MONDO:0003066 "UMLS:C0235591" MONDO:0003066 "DOID:4636" MONDO:0003066 "SCTID:15170009" @@ -110291,7 +107523,6 @@ NCBITaxon:85006 "PMID:19542112" NCBITaxon:85006 "PMID:20190019" NCBITaxon:85006 "PMID:30186281" MONDO:0013405 "OMIM:613756" -MONDO:0013405 "ICD10:H35.5" MONDO:0013405 "DOID:0110377" MONDO:0013405 "UMLS:C3151059" MONDO:0040676 "NCIT:C4575" @@ -110300,21 +107531,18 @@ MONDO:0044644 "Orphanet:495879" MONDO:0032594 "OMIM:618195" MONDO:0032770 "OMIM:618470" MONDO:0015013 "DOID:0080350" -MONDO:0015013 "ICD10CM:H35.5" MONDO:0015013 "OMIM:617304" MONDO:0015013 "UMLS:C4310626" MONDO:0014588 "Orphanet:590" MONDO:0014588 "MESH:C563831" MONDO:0014588 "OMIM:616326" MONDO:0014588 "DOID:0110675" -MONDO:8000017 "ICD10:Q55.0" MONDO:8000017 "SCTID:53599007" MONDO:8000017 "ICD9:752.89" MONDO:8000017 "Orphanet:983" MONDO:8000017 "UMLS:C0266427" MONDO:8000017 "MedDRA:10002641" MONDO:0012003 "UMLS:C1842342" -MONDO:0012003 "ICD10:H90.3" MONDO:0012003 "OMIM:608265" MONDO:0012003 "DOID:0110497" MONDO:0012003 "NCIT:C129874" @@ -110322,21 +107550,21 @@ MONDO:0012003 "MESH:C564265" MONDO:0012003 "Orphanet:90636" PO:0020148 "PO_GIT:472" MONDO:0014846 "Orphanet:404493" +MONDO:0014846 "ICD10CM:G11.1" MONDO:0014846 "UMLS:C4310780" MONDO:0014846 "DOID:0111613" MONDO:0014846 "OMIM:616949" -MONDO:0014846 "ICD10:G11.1" MONDO:0015317 "SCTID:703199001" MONDO:0015317 "Orphanet:137935" -MONDO:0015317 "ICD10:D18.0" MONDO:0015317 "ICD9:228.09" MONDO:0015317 "UMLS:C3839574" +MONDO:0015317 "ICD10CM:D18.0" MONDO:0043197 "UMLS:C2931437" MONDO:0043197 "GARD:0004747" MONDO:0043197 "MESH:C537190" MONDO:0012417 "UMLS:C1857829" -MONDO:0012417 "ICD10:Q87.2" MONDO:0012417 "Orphanet:168796" +MONDO:0012417 "ICD10CM:Q87.2" MONDO:0012417 "MESH:C535852" MONDO:0012417 "GARD:0009846" MONDO:0012417 "SCTID:721014007" @@ -110344,11 +107572,11 @@ MONDO:0012417 "OMIM:610140" MONDO:0001121 "UMLS:C0016735" MONDO:0001121 "MESH:D015522" MONDO:0001121 "SCTID:78737005" -MONDO:0001121 "ICD10:J32.1" +MONDO:0001121 "ICD10CM:J32.1" MONDO:0001121 "DOID:10791" MONDO:0001121 "NCIT:C34626" MONDO:0017517 "Orphanet:295132" -MONDO:0017517 "ICD10:Q72.8" +MONDO:0017517 "ICD10CM:Q72.8" MONDO:0007024 "EFO:1001246" MONDO:0007024 "UMLS:C0043410" MONDO:0007024 "MESH:D015012" @@ -110360,58 +107588,56 @@ MONDO:0009913 "OMIM:264140" MONDO:0009913 "UMLS:C0403551" MONDO:0009913 "SCTID:236529001" MONDO:0016454 "Orphanet:228374" -MONDO:0016454 "ICD10:G60.0" +MONDO:0016454 "ICD10CM:G60.0" MONDO:0013576 "Orphanet:183675" MONDO:0013576 "OMIM:614102" MONDO:0013576 "MESH:C564131" MONDO:0013576 "UMLS:C3279824" MONDO:0001295 "ICD9:337.00" -MONDO:0001295 "ICD10:G90.0" +MONDO:0001295 "ICD10CM:G90.0" MONDO:0001295 "SCTID:86489003" MONDO:0001295 "DOID:11488" MONDO:0001295 "UMLS:C0154690" -MONDO:0001295 "ICD10:G90.09" MONDO:0001295 "ICD9:337.0" MONDO:0019830 "Orphanet:95499" MONDO:0019830 "ICD9:747.49" -MONDO:0019830 "ICD10:Q26.9" MONDO:0019830 "SCTID:81577001" +MONDO:0019830 "ICD10CM:Q26.9" MONDO:0015653 "UMLS:CN200063" MONDO:0015653 "Orphanet:166472" MONDO:0025087 "MESH:D006691" MONDO:0025087 "UMLS:C0019841" +MONDO:0017175 "ICD10CM:G11.8" MONDO:0017175 "SCTID:91954009" -MONDO:0017175 "ICD10:G11.8" MONDO:0017175 "Orphanet:276241" MONDO:0002523 "UMLS:C0162855" MONDO:0002523 "ICD9:701.8" MONDO:0002523 "DOID:3141" MONDO:0002523 "MESH:D017520" MONDO:0002523 "SCTID:402721001" -MONDO:0013858 "ICD10:Q04.8" +MONDO:0013858 "ICD10CM:Q04.8" MONDO:0013858 "UMLS:C3541340" MONDO:0013858 "OMIM:614688" MONDO:0013858 "GARD:0010919" MONDO:0013858 "Orphanet:269229" MONDO:0018121 "Orphanet:352456" MONDO:0018121 "UMLS:CN204491" -MONDO:0017832 "ICD10:A31.8" MONDO:0017832 "Orphanet:314946" +MONDO:0017832 "ICD10CM:A31.8" MONDO:0017832 "UMLS:C0275715" MONDO:0017832 "GARD:0010550" CL:0000114 "FMA:72552" MONDO:0004649 "ICD9:482.89" MONDO:0004649 "ICD9:482.81" -MONDO:0004649 "DOID:873" MONDO:0004649 "UMLS:C1443976" MONDO:0004649 "SCTID:409664000" MONDO:0010236 "OMIM:300062" MONDO:0010236 "Orphanet:777" MONDO:0010236 "MESH:C537454" MONDO:0010236 "GARD:0008557" -MONDO:0020301 "ICD10:Q87.1" MONDO:0020301 "Orphanet:98793" MONDO:0020301 "UMLS:CN207115" +MONDO:0020301 "ICD10CM:Q87.1" MONDO:0015183 "ICD9:579.3" MONDO:0015183 "NCIT:C99059" MONDO:0015183 "UMLS:C0036992" @@ -110450,7 +107676,6 @@ MONDO:0014063 "Orphanet:1460" MONDO:0014063 "DOID:0060351" MONDO:0027451 "Orphanet:357074" MONDO:0027451 "OMIM:617403" -MONDO:0027451 "ICD10:Q82.8" MONDO:0027451 "DOID:0070129" MONDO:0011677 "MESH:C536145" MONDO:0011677 "UMLS:C1847871" @@ -110470,16 +107695,16 @@ HP:0005523 "MSH:D008232" HP:0005523 "SNOMEDCT_US:277466009" HP:0005523 "SNOMEDCT_US:84631004" MONDO:0024379 "SCTID:271793004" -MONDO:0024379 "ICD10:G47.23" +MONDO:0024379 "ICD10CM:G47.23" MONDO:0024379 "ICD9:327.33" MONDO:0024379 "UMLS:C0393771" +MONDO:0016046 "ICD10CM:Q66.8" MONDO:0016046 "OMIM:613618" MONDO:0016046 "Orphanet:199315" -MONDO:0016046 "ICD10:Q66.8" MONDO:0016046 "OMIM:119800" MONDO:0016046 "UMLS:CN200725" -MONDO:0006694 "ICD10:I67.2" MONDO:0006694 "ICD9:437.0" +MONDO:0006694 "ICD10CM:I67.2" MONDO:0006694 "MedDRA:1008095" MONDO:0006694 "NCIT:C34459" MONDO:0006694 "SCTID:55382008" @@ -110487,7 +107712,6 @@ MONDO:0006694 "DOID:12720" MONDO:0006694 "EFO:1000860" MONDO:0006694 "UMLS:C0007775" HP:0002597 "UMLS:C0241657" -MONDO:0002931 "ICD10:H11.82" MONDO:0002931 "UMLS:C0878693" MONDO:0002931 "DOID:4250" MONDO:0002931 "ICD9:372.81" @@ -110498,12 +107722,11 @@ MONDO:0020295 "NCIT:C110942" MONDO:0100204 "OMOP:4289924" NCBITaxon:482538 "GC_ID:1" MONDO:0017448 "OMIM:102650" -MONDO:0017448 "ICD10:Q71.3" +MONDO:0017448 "ICD10CM:Q71.3" MONDO:0017448 "Orphanet:294990" MONDO:0023671 "OMIM:619473" MONDO:0013407 "DOID:0110369" MONDO:0013407 "UMLS:C3151061" -MONDO:0013407 "ICD10:H35.5" MONDO:0013407 "OMIM:613758" NCBITaxon:122277 "PMID:9779605" NCBITaxon:122277 "PMID:11155980" @@ -110515,7 +107738,7 @@ MONDO:0013008 "Orphanet:169090" MONDO:0013008 "OMIM:612783" MONDO:0013008 "GARD:0010523" MONDO:0013008 "MESH:C557827" -MONDO:0013008 "ICD10:D81.8" +MONDO:0013008 "ICD10CM:D81.8" MONDO:0013008 "Orphanet:317430" MONDO:0014921 "OMIM:617113" MONDO:0014921 "UMLS:C4310712" @@ -110530,17 +107753,17 @@ MONDO:0000973 "NCIT:C4618" MONDO:0000973 "DOID:10203" MONDO:0016643 "MESH:C538065" MONDO:0016643 "Orphanet:250" -MONDO:0016643 "ICD10:Q75.8" MONDO:0016643 "OMIMPS:136760" +MONDO:0016643 "ICD10CM:Q75.8" MONDO:0016643 "UMLS:C1876203" MONDO:0016643 "GARD:0002392" MONDO:0016643 "NCIT:C129028" MONDO:0016643 "SCTID:86610004" MONDO:0018843 "ONCOTREE:BEC" MONDO:0018843 "NCIT:C7010" +MONDO:0018843 "ICD10CM:C71.9" MONDO:0018843 "DOID:7232" MONDO:0018843 "Orphanet:48736" -MONDO:0018843 "ICD10:C71.9" MONDO:0018843 "UMLS:C1333377" MONDO:0003684 "NCIT:C6475" MONDO:0003684 "ICDO:9242/3" @@ -110552,14 +107775,14 @@ MONDO:0003513 "DOID:5561" MONDO:0018889 "OMIM:255160" MONDO:0018889 "GARD:0007148" MONDO:0018889 "OMIM:608358" -MONDO:0018889 "ICD10:G71.2" +MONDO:0018889 "ICD10CM:G71.2" MONDO:0018889 "Orphanet:53698" MONDO:0018889 "DOID:0111267" MONDO:0014848 "EFO:0009061" MONDO:0014848 "UMLS:C4310778" MONDO:0014848 "OMIM:616954" MONDO:0014848 "Orphanet:488642" -MONDO:0018091 "ICD10:Q87.8" +MONDO:0018091 "ICD10CM:Q87.8" MONDO:0018091 "MESH:C536349" MONDO:0018091 "UMLS:C2931177" MONDO:0018091 "GARD:0005490" @@ -110569,14 +107792,13 @@ MONDO:0011226 "UMLS:C1865366" MONDO:0011226 "OMIM:602459" MONDO:0011226 "DOID:0110546" MONDO:0011226 "MESH:C566545" -MONDO:0011226 "ICD10:H90.3" MONDO:0014449 "SCTID:718721006" MONDO:0014449 "Orphanet:86816" MONDO:0014449 "GARD:0013056" MONDO:0014449 "NCIT:C124851" -MONDO:0014449 "ICD10:R77.0" MONDO:0014449 "UMLS:C4305253" MONDO:0014449 "OMIM:616000" +MONDO:0014449 "ICD10CM:R77.0" MONDO:0022208 "ICD9:712" MONDO:0022208 "SCTID:18834007" MONDO:0022208 "UMLS:C0152087" @@ -110586,22 +107808,22 @@ MONDO:0022208 "ICD9:712.88" MONDO:0022208 "GARD:0012802" MONDO:0022208 "ICD9:712.98" MONDO:0022208 "ICD9:712.80" -MONDO:0015503 "ICD10:Q30.9" -MONDO:0015503 "ICD10:Q30.3" -MONDO:0015503 "ICD10:Q30.0" -MONDO:0015503 "ICD10:Q30.8" +MONDO:0015503 "ICD10CM:Q30.1" MONDO:0015503 "Orphanet:156246" -MONDO:0015503 "ICD10:Q30.2" -MONDO:0015503 "ICD10:Q30.1" +MONDO:0015503 "ICD10CM:Q30.8" +MONDO:0015503 "ICD10CM:Q30.2" +MONDO:0015503 "ICD10CM:Q30.9" +MONDO:0015503 "ICD10CM:Q30.3" +MONDO:0015503 "ICD10CM:Q30.0" +MONDO:0019245 "MESH:D008064" +MONDO:0019245 "ICD9:272.7" +MONDO:0019245 "ICD10CM:E75.5" MONDO:0019245 "DOID:9455" -MONDO:0019245 "UMLS:CN205834" -MONDO:0019245 "ICD10:E75.6" -MONDO:0019245 "SCTID:10741005" -MONDO:0019245 "ICD10:E75.5" MONDO:0019245 "ICD9:272.8" -MONDO:0019245 "ICD9:272.7" +MONDO:0019245 "UMLS:CN205834" +MONDO:0019245 "ICD10CM:E75.6" MONDO:0019245 "Orphanet:79204" -MONDO:0019245 "MESH:D008064" +MONDO:0019245 "SCTID:10741005" MONDO:0005799 "EFO:0007314" MONDO:0000344 "UMLS:C0035865" MONDO:0000344 "DOID:0050518" @@ -110620,7 +107842,7 @@ MONDO:0006115 "EFO:1000131" NCBITaxon:5587 "GC_ID:1" MONDO:0012667 "UMLS:C1969639" MONDO:0012667 "DOID:0110446" -MONDO:0012667 "ICD10:I42.0" +MONDO:0012667 "ICD10CM:I42.0" MONDO:0012667 "OMIM:611407" MONDO:0012667 "MESH:C566954" MONDO:0001785 "UMLS:C0155617" @@ -110632,11 +107854,11 @@ MONDO:0007688 "MESH:C537620" MONDO:0007688 "GARD:0002572" MONDO:0007688 "SCTID:699316006" MONDO:0007688 "OMIM:139210" -MONDO:0007688 "ICD10:Q87.8" MONDO:0007688 "Orphanet:2588" MONDO:0007688 "NCIT:C123815" MONDO:0007688 "ICD9:759.89" MONDO:0007688 "UMLS:C0796081" +MONDO:0007688 "ICD10CM:Q87.8" MONDO:0021783 "EFO:1002024" MONDO:0021783 "ICD9:034.0" MONDO:0021783 "SCTID:43878008" @@ -110645,17 +107867,17 @@ MONDO:0021783 "UMLS:C0036689" MONDO:0017036 "Orphanet:264955" MONDO:0008221 "Orphanet:742" MONDO:0008221 "NCIT:C85029" -MONDO:0008221 "ICD10:E72.8" MONDO:0008221 "DOID:0111540" MONDO:0008221 "MESH:D056732" +MONDO:0008221 "ICD10CM:E72.8" MONDO:0008221 "OMIM:170100" MONDO:0008221 "UMLS:C0268532" MONDO:0008221 "SCTID:410055005" MONDO:0008221 "GARD:0007473" MONDO:0005103 "ONCOTREE:WDLS" MONDO:0005103 "UMLS:C1370889" +MONDO:0005103 "ICD10CM:C49.9" MONDO:0005103 "EFO:0000736" -MONDO:0005103 "ICD10:C49.9" MONDO:0005103 "ICDO:8851/3" MONDO:0005103 "NCIT:C4250" MONDO:0005103 "Orphanet:99971" @@ -110669,7 +107891,6 @@ HP:0001649 "SNOMEDCT_US:86651002" MONDO:0012918 "MESH:C567287" MONDO:0012918 "UMLS:C2675867" MONDO:0012918 "DOID:0110612" -MONDO:0012918 "ICD10:Q34.8" MONDO:0012918 "OMIM:612518" MONDO:0019635 "Orphanet:930" MONDO:0019635 "GARD:0005708" @@ -110679,14 +107900,12 @@ MONDO:0019635 "UMLS:C1860213" MONDO:0019635 "UMLS:C0014848" MONDO:0019635 "SCTID:715192004" MONDO:0019635 "UMLS:C0859976" -MONDO:0019635 "ICD10:K22.0" MONDO:0004086 "DOID:7042" MONDO:0004086 "NCIT:C6119" MONDO:0004086 "UMLS:C1333050" NCBITaxon:1884633 "GC_ID:1" MONDO:0003105 "DOID:47" MONDO:0003105 "ICD9:602.9" -MONDO:0003105 "ICD10:N42.9" MONDO:0003105 "UMLS:C0033575" MONDO:0003105 "NCIT:C26865" MONDO:0003105 "ICD9:602.8" @@ -110697,39 +107916,37 @@ PO:0025023 "PO_GIT:99" MONDO:0006286 "NCIT:C5906" MONDO:0006286 "EFO:1000346" MONDO:0006286 "UMLS:C1334551" -MONDO:0024661 "ICDO:8263/0" -MONDO:0024661 "UMLS:C0334307" -MONDO:0024661 "NCIT:C4143" MONDO:0002042 "SCTID:45020000" MONDO:0002042 "ICD9:374.12" MONDO:0002042 "UMLS:C0155194" MONDO:0002042 "DOID:1569" -MONDO:0002042 "ICD10:H02.121-129" MONDO:0018438 "UMLS:CN226154" -MONDO:0018438 "ICD10:K52.8" MONDO:0018438 "Orphanet:402029" +MONDO:0018438 "ICD10CM:K52.8" +MONDO:0024661 "ICDO:8263/0" +MONDO:0024661 "UMLS:C0334307" +MONDO:0024661 "NCIT:C4143" MONDO:0000602 "DOID:0060050" MONDO:0009662 "Orphanet:584" -MONDO:0009662 "ICD10:E76.2" MONDO:0009662 "MedDRA:10056893" MONDO:0009662 "DOID:12803" MONDO:0009662 "GARD:0007096" MONDO:0009662 "SCTID:43916004" +MONDO:0009662 "ICD10CM:E76.2" MONDO:0009662 "NCIT:C84903" MONDO:0009662 "MESH:D016538" MONDO:0009662 "OMIM:253220" -MONDO:0009662 "ICD10:E76.29" MONDO:0009662 "UMLS:C0085132" MONDO:0009315 "GARD:0006558" MONDO:0009315 "ICD9:286.3" MONDO:0009315 "Orphanet:330" MONDO:0009315 "OMIM:234000" MONDO:0009315 "MESH:D005175" -MONDO:0009315 "ICD10:D68.2" MONDO:0009315 "NCIT:C131740" MONDO:0009315 "UMLS:C0015526" MONDO:0009315 "SCTID:46981006" MONDO:0009315 "DOID:2231" +MONDO:0009315 "ICD10CM:D68.2" MONDO:0015911 "SCTID:4854004" MONDO:0015911 "Orphanet:182047" MONDO:0015911 "NCIT:C34377" @@ -110740,7 +107957,7 @@ MONDO:0013154 "OMIM:613150" MONDO:0013154 "Orphanet:899" MONDO:0013154 "Orphanet:588" MONDO:0019939 "Orphanet:96369" -MONDO:0019939 "ICD10:F20.8" +MONDO:0019939 "ICD10CM:F20.8" CL:0002231 "FMA:66817" CL:0002231 "FMA:256163" HP:0009473 "SNOMEDCT_US:86414002" @@ -110768,31 +107985,30 @@ MONDO:0014228 "Orphanet:98974" MONDO:0014228 "UMLS:C3809798" MONDO:0018280 "Orphanet:370997" MONDO:0018280 "OMIM:616538" -MONDO:0018280 "ICD10:G71.2" +MONDO:0018280 "ICD10CM:G71.2" MONDO:0000801 "DOID:0060526" MONDO:0020156 "UMLS:CN227801" MONDO:0020156 "Orphanet:98565" MONDO:0010267 "OMIM:300211" MONDO:0010267 "MESH:C564565" MONDO:0010267 "UMLS:C1846173" -MONDO:0001334 "ICD10:H02.86" MONDO:0001334 "DOID:11669" MONDO:0001334 "UMLS:C0155213" MONDO:0001334 "ICD9:374.54" MONDO:0001334 "SCTID:79830009" -MONDO:0008607 "ICD10:Q74.8" MONDO:0008607 "UMLS:C1860804" MONDO:0008607 "MESH:C536564" MONDO:0008607 "OMIM:190680" MONDO:0008607 "Orphanet:2947" MONDO:0008607 "GARD:0005290" +MONDO:0008607 "ICD10CM:Q74.8" MONDO:0043141 "UMLS:C2931532" MONDO:0043141 "MESH:C537553" MONDO:0043141 "GARD:0003638" -MONDO:0016907 "ICD10:Q93.5" MONDO:0016907 "MESH:C537828" MONDO:0016907 "UMLS:C0795828" MONDO:0016907 "GARD:0003770" +MONDO:0016907 "ICD10CM:Q93.5" MONDO:0016907 "Orphanet:262065" MONDO:0012446 "UMLS:C1853258" MONDO:0012446 "MESH:C565217" @@ -110807,18 +108023,18 @@ MONDO:0009485 "GARD:0003084" MONDO:0009485 "DOID:0111456" MONDO:0009485 "SCTID:722056009" MONDO:0009485 "OMIM:244450" +MONDO:0009485 "ICD10CM:Q87.0" MONDO:0009485 "Orphanet:2707" MONDO:0009485 "MESH:C537013" -MONDO:0009485 "ICD10:Q87.0" MONDO:0021492 "UMLS:C0496858" MONDO:0021492 "NCIT:C4771" MONDO:0021492 "ICD9:210.2" MONDO:0021492 "SCTID:92205005" MONDO:0014094 "SCTID:725463007" +MONDO:0014094 "ICD10CM:D64.0" MONDO:0014094 "OMIM:615234" MONDO:0014094 "UMLS:C3808920" MONDO:0014094 "Orphanet:300298" -MONDO:0014094 "ICD10:D64.0" MONDO:0014094 "UMLS:C4511137" MONDO:0010582 "OMIM:304900" MONDO:0010582 "Orphanet:178029" @@ -110834,13 +108050,13 @@ MONDO:0024934 "MESH:D005393" CL:1001568 "BTO:0001141" MONDO:0007922 "NCIT:C128191" MONDO:0007922 "ICD9:743.63" -MONDO:0007922 "ICD10:Q82.0" MONDO:0007922 "GARD:0000333" MONDO:0007922 "OMIM:153400" MONDO:0007922 "Orphanet:33001" MONDO:0007922 "DOID:0111509" MONDO:0007922 "MESH:C537710" MONDO:0007922 "SCTID:8634009" +MONDO:0007922 "ICD10CM:Q82.0" MONDO:0007922 "UMLS:C0265345" MONDO:0032915 "OMIM:618782" MONDO:0021750 "SCTID:48631008" @@ -110851,6 +108067,7 @@ MONDO:0014949 "OMIM:617166" MONDO:0014949 "DOID:0080425" MONDO:0014949 "UMLS:C4310685" MONDO:0009211 "MESH:D005168" +MONDO:0009211 "ICD10CM:D68.2" MONDO:0009211 "UMLS:C1394919" MONDO:0009211 "GARD:0002238" MONDO:0009211 "OMIM:227500" @@ -110858,7 +108075,6 @@ MONDO:0009211 "SCTID:37193007" MONDO:0009211 "Orphanet:327" MONDO:0009211 "NCIT:C131631" MONDO:0009211 "MedDRA:10016079" -MONDO:0009211 "ICD10:D68.2" MONDO:0009211 "DOID:2215" NCBITaxon:451871 "GC_ID:1" MONDO:0030708 "NCIT:C35588" @@ -110870,50 +108086,49 @@ MONDO:0022618 "UMLS:C2931487" MONDO:0016038 "UMLS:C0553647" MONDO:0016038 "SCTID:703614006" MONDO:0016038 "Orphanet:199260" +MONDO:0016038 "ICD10CM:M72.8" MONDO:0016038 "NCIT:C4818" -MONDO:0016038 "ICD10:M72.8" MONDO:0012761 "SCTID:717973004" MONDO:0012761 "DOID:0060459" MONDO:0012761 "OMIM:611936" MONDO:0012761 "Orphanet:251038" -MONDO:0012761 "ICD10:Q92.3" MONDO:0012761 "UMLS:C2749873" MONDO:0012761 "GARD:0010360" MONDO:0012761 "MESH:C567626" -MONDO:0020553 "ICD10:E83.1+" +MONDO:0020553 "ICD10EXP:J99.8*" MONDO:0020553 "Orphanet:99930" MONDO:0020553 "UMLS:C4274326" MONDO:0020553 "SCTID:716712004" -MONDO:0020553 "ICD10:J99.8*" +MONDO:0020553 "ICD10EXP:E83.1+" HP:0030191 "UMLS:C4021046" MONDO:0013908 "Orphanet:79102" MONDO:0013908 "OMIM:614834" MONDO:0008473 "Orphanet:263482" -MONDO:0008473 "ICD10:Q77.7" MONDO:0008473 "OMIM:184095" MONDO:0008473 "SCTID:719204007" MONDO:0008473 "GARD:0000994" MONDO:0008473 "UMLS:CN202294" MONDO:0008473 "DOID:0111553" +MONDO:0008473 "ICD10CM:Q77.7" MONDO:0019414 "MESH:C564519" MONDO:0019414 "UMLS:C3502469" MONDO:0019414 "OMIM:308205" MONDO:0019414 "SCTID:717945001" +MONDO:0019414 "ICD10CM:Q87.8" MONDO:0019414 "Orphanet:85284" -MONDO:0019414 "ICD10:Q87.8" MONDO:0014102 "Orphanet:478" MONDO:0014102 "OMIM:615266" MONDO:0014102 "UMLS:C3808971" MONDO:0014102 "DOID:0090079" -MONDO:0014102 "ICD10:E23.0" MONDO:0007276 "SCTID:26445008" -MONDO:0007276 "ICD10:Q92.8" MONDO:0007276 "Orphanet:195" +MONDO:0007276 "ICD10CM:Q92.8" MONDO:0007276 "UMLS:C0265493" MONDO:0007276 "GARD:0000026" MONDO:0007276 "OMIM:115470" MONDO:0007276 "MESH:C535918" MONDO:0007276 "NCIT:C75477" +MONDO:0005338 "ICD10CM:H40.1" MONDO:0005338 "ICD9:365.1" MONDO:0005338 "OMIM:611276" MONDO:0005338 "OMIM:606689" @@ -110924,13 +108139,11 @@ MONDO:0005338 "OMIM:610535" MONDO:0005338 "OMIM:601682" MONDO:0005338 "ICD9:365.13" MONDO:0005338 "OMIM:137750" -MONDO:0005338 "ICD10:H40.13" MONDO:0005338 "NCIT:C34641" MONDO:0005338 "OMIM:611274" MONDO:0005338 "OMIM:609887" MONDO:0005338 "UMLS:C0017612" MONDO:0005338 "ICD9:365.10" -MONDO:0005338 "ICD10:H40.1" MONDO:0005338 "SCTID:84494001" MONDO:0005338 "OMIM:177700" MONDO:0005338 "OMIM:608695" @@ -110938,7 +108151,6 @@ MONDO:0005338 "OMIM:608696" MONDO:0005338 "OMIM:602429" MONDO:0005338 "OMIM:603383" MONDO:0005338 "DOID:1067" -MONDO:0005338 "ICD10:H40.10" MONDO:0005338 "EFO:0004190" MONDO:0005338 "OMIM:137760" MONDO:0005338 "OMIM:613100" @@ -110961,21 +108173,21 @@ MONDO:0013343 "UMLS:C3150902" MONDO:0013343 "GARD:0012958" MONDO:0013343 "Orphanet:169147" MONDO:0013343 "NCIT:C119990" -MONDO:0016259 "ICD10:C54.9" MONDO:0016259 "NCIT:C9180" +MONDO:0016259 "ICD10CM:C54.9" MONDO:0016259 "GARD:0012335" MONDO:0016259 "Orphanet:213610" MONDO:0017201 "MedDRA:10059593" MONDO:0017201 "Orphanet:279882" MONDO:0017201 "HP:0010533" MONDO:0017201 "SCTID:400948003" -MONDO:0017201 "ICD10:F98.4" +MONDO:0017201 "ICD10CM:F98.4" MONDO:0017201 "UMLS:C1527306" CL:1000615 "KUPO:0001024" CL:0000052 "FMA:84790" MONDO:0015326 "UMLS:CN199356" -MONDO:0015326 "ICD10:Q87.8" MONDO:0015326 "GARD:0003994" +MONDO:0015326 "ICD10CM:Q87.8" MONDO:0015326 "Orphanet:1390" MONDO:0012331 "OMIM:609670" MONDO:0014784 "UMLS:C4225196" @@ -110997,25 +108209,25 @@ MONDO:0018950 "OMIMPS:210200" MONDO:0018950 "UMLS:C0268600" MONDO:0018950 "GARD:0010954" MONDO:0018950 "OMIM:210200" -MONDO:0018950 "ICD10:E71.1" +MONDO:0018950 "ICD10CM:E71.1" MONDO:0008714 "OMIM:201170" MONDO:0008714 "GARD:0000496" MONDO:0008714 "MESH:C538183" +MONDO:0008714 "ICD10CM:Q75.4" MONDO:0008714 "DOID:0060383" MONDO:0008714 "Orphanet:1788" MONDO:0008714 "SCTID:720430002" MONDO:0008714 "UMLS:C1860119" -MONDO:0008714 "ICD10:Q75.4" MONDO:0016899 "Orphanet:262" MONDO:0016899 "UMLS:CN227033" -MONDO:0016899 "ICD10:G71.0" +MONDO:0016899 "ICD10CM:G71.0" MONDO:0020804 "NCIT:C156767" MONDO:0020804 "NCIT:C7586" MONDO:0020804 "MESH:D002280" MONDO:0014510 "UMLS:C4015344" +MONDO:0014510 "ICD10CM:E71.3" MONDO:0014510 "OMIM:616154" MONDO:0014510 "Orphanet:438178" -MONDO:0014510 "ICD10:E71.3" MONDO:0034110 "Orphanet:544628" MONDO:0018928 "UMLS:CN205315" MONDO:0018928 "Orphanet:57146" @@ -111037,19 +108249,19 @@ MONDO:0013772 "Orphanet:300313" MONDO:0013772 "UMLS:C3280965" MONDO:0013772 "OMIM:614482" MONDO:0009181 "DOID:0090017" +MONDO:0009181 "ICD10CM:Q81.0" MONDO:0009181 "MESH:C535955" MONDO:0009181 "GARD:0002137" MONDO:0009181 "Orphanet:257" -MONDO:0009181 "ICD10:Q81.0" MONDO:0009181 "OMIM:226670" MONDO:0009181 "SCTID:723308003" MONDO:0009181 "UMLS:C2931072" -MONDO:0015716 "ICD10:D67" MONDO:0015716 "UMLS:CN200228" +MONDO:0015716 "ICD10CM:D67" MONDO:0015716 "Orphanet:169796" +MONDO:0018141 "ICD10CM:E74.4" MONDO:0018141 "Orphanet:353308" MONDO:0018141 "OMIM:266150" -MONDO:0018141 "ICD10:E74.4" MONDO:0018141 "UMLS:CN204538" MONDO:0017371 "Orphanet:290849" MONDO:0008252 "OMIM:173395" @@ -111058,30 +108270,29 @@ MONDO:0002367 "UMLS:CN881103" MONDO:0002367 "SCTID:126880001" MONDO:0002367 "MESH:D007680" MONDO:0002367 "NCIT:C7548" -MONDO:0002367 "NCIT:C3150" MONDO:0002367 "ICD9:189.0" +MONDO:0002367 "NCIT:C3150" MONDO:0002367 "DOID:263" -MONDO:0002367 "ICD10:C64" MONDO:0020742 "Orphanet:1317" MONDO:0020742 "OMIM:212540" MONDO:0020742 "MESH:C537965" MONDO:0020742 "GARD:0001060" -MONDO:0022755 "MESH:C536581" -MONDO:0022755 "UMLS:CN036727" -MONDO:0022755 "GARD:0003726" -MONDO:0007055 "ICD10:Q77.8" MONDO:0007055 "MESH:C535662" MONDO:0007055 "Orphanet:969" +MONDO:0007055 "ICD10CM:Q77.8" MONDO:0007055 "ICD9:756.59" MONDO:0007055 "SCTID:254090007" MONDO:0007055 "OMIM:102370" MONDO:0007055 "GARD:0000007" MONDO:0007055 "DOID:0111243" +MONDO:0022755 "MESH:C536581" +MONDO:0022755 "UMLS:CN036727" +MONDO:0022755 "GARD:0003726" MONDO:0020321 "MedDRA:10045516" MONDO:0020321 "OMIM:601626" MONDO:0020321 "UMLS:C0280141" +MONDO:0020321 "ICD10CM:C95.0" MONDO:0020321 "UMLS:C0856823" -MONDO:0020321 "ICD10:C95.0" MONDO:0020321 "NCIT:C9298" MONDO:0020321 "SCTID:359631009" MONDO:0020321 "Orphanet:98835" @@ -111098,11 +108309,9 @@ MONDO:0005743 "EFO:0007250" MONDO:0005743 "MESH:D016890" MONDO:0004680 "ICD9:287.39" MONDO:0004680 "UMLS:C0701157" -MONDO:0004680 "ICD10:D69.49" MONDO:0004680 "ICD9:287.30" MONDO:0004680 "SCTID:267534000" MONDO:0004680 "DOID:8925" -MONDO:0004680 "ICD10:D69.4" MONDO:0004680 "ICD9:287.3" MONDO:0012611 "MESH:C567020" MONDO:0012611 "OMIM:611087" @@ -111111,14 +108320,13 @@ MONDO:0012611 "UMLS:C1970203" MONDO:0012611 "Orphanet:500533" MONDO:0018773 "Orphanet:476093" MONDO:0018773 "UMLS:CN776822" -MONDO:0030004 "OMIM:618830" MONDO:0001998 "SCTID:87764000" -MONDO:0001998 "ICD10:H47.14" MONDO:0001998 "DOID:14555" MONDO:0001998 "MESH:D009901" MONDO:0001998 "ICD9:377.04" MONDO:0001998 "EFO:1001330" MONDO:0001998 "UMLS:C0152112" +MONDO:0030004 "OMIM:618830" MONDO:0021353 "SCTID:126908007" MONDO:0021353 "NCIT:C3435" MONDO:0021353 "ICD9:239.5" @@ -111138,22 +108346,21 @@ MONDO:0004984 "UMLS:C3642347" MONDO:0004984 "EFO:0000281" MONDO:0006000 "EFO:0007529" MONDO:0006000 "SCTID:44572005" +MONDO:0006000 "ICD10CM:A18.31" MONDO:0006000 "ICD9:014.01" MONDO:0006000 "MESH:D014395" MONDO:0006000 "DOID:9801" -MONDO:0006000 "ICD10:A18.31" MONDO:0006000 "ICD9:014.0" MONDO:0006000 "ICD9:014.00" MONDO:0006000 "UMLS:C0041325" MONDO:0002940 "DOID:4283" MONDO:0002940 "NCIT:C7473" MONDO:0002940 "UMLS:C1332269" -MONDO:0002940 "ICD10:C44.510" NCBITaxon:480117 "GC_ID:1" -MONDO:0010653 "ICD10:Q87.5" MONDO:0010653 "Orphanet:3242" MONDO:0010653 "MESH:C537761" MONDO:0010653 "OMIM:309500" +MONDO:0010653 "ICD10CM:Q87.5" MONDO:0010653 "GARD:0009509" MONDO:0010653 "SCTID:699669001" MONDO:0010653 "UMLS:C0796135" @@ -111165,18 +108372,18 @@ MONDO:0033613 "GARD:0010447" MONDO:0033613 "UMLS:C2751938" MONDO:0033613 "MESH:C567853" MONDO:0033613 "OMIM:603513" +MONDO:0016203 "ICD10CM:E78.0" MONDO:0016203 "Orphanet:209902" -MONDO:0016203 "ICD10:E78.0" MONDO:0017761 "Orphanet:309836" +MONDO:0017761 "ICD10CM:E83.4" MONDO:0017761 "UMLS:CN227205" -MONDO:0017761 "ICD10:E83.4" -MONDO:0017761 "ICD10:E83.3" -MONDO:0017761 "ICD10:E83.9" -MONDO:0017761 "ICD10:E83.1" -MONDO:0017761 "ICD10:E83.2" -MONDO:0017761 "ICD10:E83.8" -MONDO:0017761 "ICD10:E83.0" -MONDO:0017761 "ICD10:E83.5" +MONDO:0017761 "ICD10CM:E83.2" +MONDO:0017761 "ICD10CM:E83.5" +MONDO:0017761 "ICD10CM:E83.9" +MONDO:0017761 "ICD10CM:E83.3" +MONDO:0017761 "ICD10CM:E83.0" +MONDO:0017761 "ICD10CM:E83.8" +MONDO:0017761 "ICD10CM:E83.1" MONDO:0011164 "MESH:C535699" MONDO:0011164 "OMIM:601888" MONDO:0011164 "GARD:0003368" @@ -111193,8 +108400,8 @@ MONDO:0006499 "SCTID:400006008" MONDO:0006499 "UMLS:C0018552" MONDO:0012110 "MESH:C563867" MONDO:0012110 "GARD:0010627" -MONDO:0012110 "ICD10:E34.3" MONDO:0012110 "Orphanet:73272" +MONDO:0012110 "ICD10CM:E34.3" MONDO:0012110 "UMLS:C4518327" MONDO:0012110 "UMLS:C1837475" MONDO:0012110 "SCTID:724385009" @@ -111205,18 +108412,18 @@ MONDO:0009875 "Orphanet:49382" MONDO:0009875 "DOID:0110008" MONDO:0009875 "UMLS:C1849792" MONDO:0009875 "GARD:0009650" -MONDO:0007441 "ICD10:K00.5" MONDO:0007441 "OMIM:605594" MONDO:0007441 "Orphanet:166260" MONDO:0007441 "OMIM:125490" MONDO:0007441 "GARD:0012796" +MONDO:0007441 "ICD10CM:K00.5" MONDO:0011729 "OMIM:606799" MONDO:0010959 "SCTID:719845008" +MONDO:0010959 "ICD10CM:Q87.0" MONDO:0010959 "DOID:0111699" MONDO:0010959 "OMIM:600920" MONDO:0010959 "Orphanet:2460" MONDO:0010959 "GARD:0003382" -MONDO:0010959 "ICD10:Q87.0" MONDO:0010959 "UMLS:C1833136" MONDO:0010959 "MESH:C535909" MONDO:0014480 "OMIM:616067" @@ -111230,9 +108437,9 @@ MONDO:0010840 "OMIM:600176" MONDO:0010840 "UMLS:C1838491" MONDO:0010840 "GARD:0000409" MONDO:0010840 "Orphanet:2798" +MONDO:0010840 "ICD10CM:G40.4" MONDO:0010840 "SCTID:763861000" MONDO:0010840 "MESH:C538091" -MONDO:0010840 "ICD10:G40.4" MONDO:0017644 "Orphanet:306712" MONDO:0017644 "UMLS:CN227168" MONDO:0010152 "GARD:0005266" @@ -111261,7 +108468,7 @@ MONDO:0008183 "Orphanet:675" MONDO:0008183 "DOID:0060850" MONDO:0008183 "NCIT:C98813" MONDO:0008183 "MedDRA:10071757" -MONDO:0008183 "ICD10:Q45.1" +MONDO:0008183 "ICD10CM:Q45.1" MONDO:0008183 "OMIM:167750" MONDO:0008183 "UMLS:C0149955" MONDO:0008183 "SCTID:40315008" @@ -111289,7 +108496,6 @@ MONDO:0011422 "Orphanet:47159" MONDO:0006733 "ICD9:375.15" MONDO:0006733 "UMLS:C0022575" MONDO:0006733 "MedDRA:100233350" -MONDO:0006733 "ICD10:H04.12" MONDO:0006733 "NCIT:C34553" MONDO:0006733 "EFO:1001001" MONDO:0006733 "DOID:12895" @@ -111305,10 +108511,10 @@ MONDO:0044784 "ONCOTREE:MYXO" MONDO:0044784 "NCIT:C6577" MONDO:0044784 "SCTID:404082003" MONDO:0017091 "OMIM:615752" -MONDO:0017091 "ICD10:Q04.3" MONDO:0017091 "OMIM:612691" MONDO:0017091 "OMIM:300388" MONDO:0017091 "OMIM:616531" +MONDO:0017091 "ICD10CM:Q04.3" MONDO:0017091 "SCTID:765757003" MONDO:0017091 "OMIM:614833" MONDO:0017091 "OMIM:606854" @@ -111318,43 +108524,40 @@ CL:1000891 "KUPO:0001029" MONDO:0012995 "UMLS:C2675180" MONDO:0012995 "MESH:C567193" MONDO:0012995 "OMIM:612717" +MONDO:0019308 "ICD10CM:Q81.8" MONDO:0019308 "Orphanet:79405" MONDO:0019308 "OMIM:226650" -MONDO:0019308 "ICD10:Q81.8" MONDO:0019308 "UMLS:C2673609" MONDO:0019308 "UMLS:C2673610" MONDO:0019308 "GARD:0002143" MONDO:0015718 "GARD:0005304" -MONDO:0015718 "ICD10:Q92.1" MONDO:0015718 "UMLS:CN073989" MONDO:0015718 "SCTID:764463001" MONDO:0015718 "Orphanet:1698" +MONDO:0015718 "ICD10CM:Q92.1" MONDO:0020744 "NCIT:C62017" MONDO:0022757 "NCIT:C36397" MONDO:0022757 "MESH:C535372" MONDO:0022757 "GARD:0005332" MONDO:0022757 "UMLS:C0265479" MONDO:0016594 "Orphanet:247245" -MONDO:0016594 "ICD10:I69.0" +MONDO:0016594 "ICD10CM:I69.0" MONDO:0016594 "GARD:0009484" MONDO:0014978 "UMLS:C4310659" MONDO:0014978 "OMIM:617234" MONDO:0005041 "NCIT:C26782" -MONDO:0005041 "ICD10:H40-H42" MONDO:0005041 "EFO:0000516" MONDO:0005041 "ICD9:365" MONDO:0005041 "MESH:D005901" -MONDO:0005041 "ICD10:H40.H42" MONDO:0005041 "HP:0000501" MONDO:0005041 "DOID:1686" +MONDO:0005041 "ICD10CM:H40-H42" MONDO:0005041 "ICD9:365.89" -MONDO:0005041 "ICD10:H40" MONDO:0005041 "ICD9:365.9" MONDO:0005041 "SCTID:23986001" -MONDO:0005041 "ICD10:H40.9" MONDO:0005041 "UMLS:C0017601" MONDO:0018447 "UMLS:C0221290" -MONDO:0018447 "ICD10:D16.9" +MONDO:0018447 "ICD10CM:D16.9" MONDO:0018447 "Orphanet:404507" MONDO:0018447 "EFO:0000332" MONDO:0018447 "ICDO:9241/0" @@ -111390,18 +108593,17 @@ MONDO:0040675 "ICDO:8825/0" MONDO:0033372 "UMLS:CN244926" MONDO:0033372 "OMIM:617976" MONDO:0033372 "DOID:0080426" -MONDO:0015192 "ICD10:K59.8" +MONDO:0015192 "ICD10CM:K59.8" MONDO:0015192 "Orphanet:104078" MONDO:0015192 "UMLS:CN197532" MONDO:0019479 "MESH:D054747" MONDO:0019479 "ONCOTREE:HS" +MONDO:0019479 "ICD10CM:C96.A" MONDO:0019479 "SCTID:109988003" MONDO:0019479 "ICD9:171.9" -MONDO:0019479 "ICD10:C96.A" MONDO:0019479 "UMLS:C0334663" MONDO:0019479 "ICDO:9755/3" MONDO:0019479 "Orphanet:86896" -MONDO:0019479 "ICD10:C96.8" MONDO:0019479 "NCIT:C27349" MONDO:0015582 "Orphanet:163637" MONDO:0015582 "UMLS:CN226708" @@ -111417,20 +108619,20 @@ MONDO:0018634 "SCTID:367601000119103" MONDO:0018634 "GARD:0006611" MONDO:0004149 "DOID:7222" MONDO:0011014 "NCIT:C5669" -MONDO:0011014 "ICD10:C34.3" +MONDO:0011014 "ICD10CM:C34.9" MONDO:0011014 "SCTID:707670009" MONDO:0011014 "OMIM:601200" MONDO:0011014 "GARD:0008757" MONDO:0011014 "Orphanet:64742" MONDO:0011014 "ICD9:162.9" -MONDO:0011014 "ICD10:C34.9" MONDO:0011014 "EFO:0009052" MONDO:0011014 "DOID:4769" -MONDO:0011014 "ICD10:C34.2" +MONDO:0011014 "ICD10CM:C34.3" MONDO:0011014 "ICDO:8973/3" MONDO:0011014 "ONCOTREE:PPB" -MONDO:0011014 "ICD10:C34.1" MONDO:0011014 "UMLS:C1266144" +MONDO:0011014 "ICD10CM:C34.1" +MONDO:0011014 "ICD10CM:C34.2" MONDO:0011014 "MESH:C537516" MONDO:0011014 "Orphanet:284343" MONDO:0011014 "UMLS:CN072455" @@ -111470,9 +108672,9 @@ HP:0002754 "SNOMEDCT_US:60168000" HP:0002754 "SNOMEDCT_US:111253001" HP:0002754 "MSH:D010019" HP:0002754 "UMLS:C2242472" -MONDO:0012639 "ICD10:G11.4" MONDO:0012639 "Orphanet:209951" MONDO:0012639 "OMIM:611225" +MONDO:0012639 "ICD10CM:G11.4" MONDO:0012639 "DOID:0110771" MONDO:0012639 "SCTID:732932004" MONDO:0012639 "MESH:C567628" @@ -111486,19 +108688,19 @@ MONDO:0015465 "OMIM:614378" MONDO:0015465 "OMIM:122860" MONDO:0015465 "Orphanet:1522" MONDO:0015465 "OMIM:218300" -MONDO:0015465 "ICD10:Q78.8" MONDO:0015465 "SCTID:36601008" MONDO:0015465 "ICD9:756.89" MONDO:0015465 "DOID:0080033" +MONDO:0015465 "ICD10CM:Q78.8" MONDO:0015465 "OMIMPS:123000" MONDO:0015465 "OMIM:614099" MONDO:0015465 "OMIM:123000" MONDO:0015465 "OMIM:218400" MONDO:0009173 "Orphanet:168601" +MONDO:0009173 "ICD10CM:K90.8" MONDO:0009173 "MESH:C562649" MONDO:0009173 "ICD9:277.89" MONDO:0009173 "UMLS:C0268416" -MONDO:0009173 "ICD10:K90.8" MONDO:0009173 "SCTID:190952002" MONDO:0009173 "OMIM:226200" MONDO:0009173 "DOID:0111667" @@ -111506,7 +108708,7 @@ NCBITaxon:13373 "PMID:16558776" NCBITaxon:13373 "GC_ID:11" NCBITaxon:13373 "PMID:1283774" NCBITaxon:13373 "PMID:12734250" -MONDO:0019970 "ICD10:M92.4" +MONDO:0019970 "ICD10CM:M92.4" MONDO:0019970 "Orphanet:97337" MONDO:0019970 "MedDRA:10063585" MONDO:0019970 "UMLS:CN206897" @@ -111525,16 +108727,15 @@ MONDO:0002073 "NCIT:C6767" MONDO:0002073 "SCTID:277508009" MONDO:0002073 "GARD:0012017" MONDO:0002073 "DOID:1660" +MONDO:0007727 "ICD10CM:E85.0" MONDO:0007727 "DOID:0090018" MONDO:0007727 "OMIM:142680" MONDO:0007727 "MESH:C536657" MONDO:0007727 "NCIT:C119051" -MONDO:0007727 "ICD10:E85.0" MONDO:0007727 "Orphanet:32960" MONDO:0007727 "GARD:0008457" MONDO:0007727 "SCTID:403833009" MONDO:0000761 "DOID:0060388" -MONDO:0006664 "ICD10:Q21.1" MONDO:0006664 "NCIT:C84473" MONDO:0006664 "OMIM:614475" MONDO:0006664 "UMLS:C0018817" @@ -111556,43 +108757,43 @@ MONDO:0006664 "OMIM:607941" MONDO:0006664 "OMIM:614433" MONDO:0007610 "GARD:0002324" MONDO:0007610 "Orphanet:2026" -MONDO:0007610 "ICD10:L68.8" MONDO:0007610 "MESH:C565016" MONDO:0007610 "OMIM:135400" MONDO:0007610 "SCTID:716008002" +MONDO:0007610 "ICD10CM:L68.8" MONDO:0044216 "OMIM:108320" MONDO:0004789 "UMLS:C0008311" MONDO:0004789 "ICD9:576.1" MONDO:0004789 "NCIT:C26718" +MONDO:0004789 "ICD10CM:K83.0" MONDO:0004789 "MESH:D002761" MONDO:0004789 "DOID:9446" MONDO:0004789 "SCTID:82403002" -MONDO:0004789 "ICD10:K83.0" MONDO:0008966 "DOID:6691" MONDO:0008966 "MESH:C535330" -MONDO:0008966 "ICD10:Q82.0" MONDO:0008966 "ICD9:576.8" MONDO:0008966 "SCTID:28724005" MONDO:0008966 "GARD:0000370" +MONDO:0008966 "ICD10CM:Q82.0" MONDO:0008966 "OMIM:214900" MONDO:0008966 "NCIT:C35709" MONDO:0008966 "UMLS:C0268314" MONDO:0008966 "Orphanet:1414" HP:0009115 "UMLS:C4024592" +CL:0000148 "VHOG:0001679" +CL:0000148 "CALOHA:TS-0613" +CL:0000148 "BTO:0000847" +CL:0000148 "FMA:70545" MONDO:0008278 "MESH:C563412" MONDO:0008278 "Orphanet:2929" MONDO:0008278 "OMIM:175050" MONDO:0008278 "DOID:0111543" MONDO:0008278 "UMLS:C1832942" -CL:0000148 "VHOG:0001679" -CL:0000148 "CALOHA:TS-0613" -CL:0000148 "BTO:0000847" -CL:0000148 "FMA:70545" HP:0000972 "MSH:D007645" HP:0000972 "SNOMEDCT_US:706885006" HP:0000972 "UMLS:C0022596" CL:0002262 "FMA:63134" -MONDO:0018343 "ICD10:G72.3" +MONDO:0018343 "ICD10CM:G72.3" MONDO:0018343 "Orphanet:397750" MONDO:0012826 "OMIM:612238" MONDO:0001178 "UMLS:C0155161" @@ -111602,9 +108803,9 @@ MONDO:0001178 "ICD9:372.52" MONDO:0021176 "UMLS:C4303163" MONDO:0021176 "SCTID:721712002" MONDO:0021176 "Orphanet:563581" -MONDO:0006968 "ICD10:M75.4" MONDO:0006968 "MedDRA:10049039" MONDO:0006968 "UMLS:C0376685" +MONDO:0006968 "ICD10CM:M75.4" MONDO:0006968 "ICD9:726.2" MONDO:0006968 "SCTID:202849001" MONDO:0006968 "EFO:1001178" @@ -111619,7 +108820,6 @@ MONDO:0000291 "GARD:0012651" MONDO:0000291 "UMLS:C0338428" MONDO:0000291 "SCTID:230187000" MONDO:0006851 "NCIT:C87093" -MONDO:0006851 "ICD10:P24.01" MONDO:0006851 "DOID:11049" MONDO:0006851 "Orphanet:70588" MONDO:0006851 "EFO:1001037" @@ -111627,13 +108827,11 @@ MONDO:0006851 "MedDRA:10027057" MONDO:0006851 "SCTID:206292002" MONDO:0006851 "MESH:D008471" MONDO:0006851 "GARD:0010494" -MONDO:0006851 "ICD10:P24.0" -MONDO:0006851 "ICD10:P24.00" MONDO:0006851 "ICD9:770.1" MONDO:0006851 "UMLS:C0025048" MONDO:0019161 "UMLS:C0268436" MONDO:0019161 "Orphanet:756" -MONDO:0019161 "ICD10:N25.8" +MONDO:0019161 "ICD10CM:N25.8" MONDO:0019161 "ICD9:275.8" MONDO:0019161 "OMIM:264350" MONDO:0019161 "MESH:D011546" @@ -111655,21 +108853,21 @@ MONDO:0006031 "PMID:25838086" MONDO:0006031 "UMLS:C0149516" MONDO:0006031 "ICD9:473.8" MONDO:0006031 "SCTID:40055000" -MONDO:0018226 "ICD10:G40.4" MONDO:0018226 "Orphanet:364063" MONDO:0018226 "OMIM:308350" +MONDO:0018226 "ICD10CM:G40.4" MONDO:0022578 "GARD:0009305" MONDO:0022578 "UMLS:C3899675" MONDO:0022578 "NCIT:C118816" MONDO:0020491 "UMLS:C4284594" MONDO:0020491 "NCIT:C116933" MONDO:0020491 "DOID:0111169" -MONDO:0020491 "ICD10:Q04.3" MONDO:0020491 "UMLS:C1848201" MONDO:0020491 "OMIM:300067" MONDO:0020491 "GARD:0001904" MONDO:0020491 "OMIM:607432" MONDO:0020491 "OMIM:600348" +MONDO:0020491 "ICD10CM:Q04.3" MONDO:0020491 "Orphanet:99796" MONDO:0020491 "GARD:0002250" MONDO:0014285 "DOID:0111397" @@ -111677,8 +108875,10 @@ MONDO:0014285 "Orphanet:98869" MONDO:0014285 "OMIM:615631" MONDO:0014285 "UMLS:C3810185" MONDO:0011899 "Orphanet:2701" +MONDO:0011899 "ICD10CM:Q87.1" MONDO:0011899 "MESH:C564342" -MONDO:0011899 "ICD10:Q87.1" +MONDO:0011899 "OMIM:617506" +MONDO:0011899 "OMIM:607721" MONDO:0011899 "SCTID:723444009" MONDO:0011899 "UMLS:C3501846" MONDO:0011899 "UMLS:C1843181" @@ -111690,10 +108890,9 @@ MONDO:0010645 "Orphanet:534" MONDO:0010645 "NCIT:C84940" MONDO:0010645 "SCTID:79385002" MONDO:0010645 "GARD:0003295" -MONDO:0010645 "ICD10:E72.0" MONDO:0010645 "MESH:D009800" -MONDO:0010645 "ICD10:E72.03" MONDO:0010645 "ICD9:270.8" +MONDO:0010645 "ICD10CM:E72.0" MONDO:0010645 "OMIM:309000" MONDO:0010645 "UMLS:C0028860" MONDO:0005956 "EFO:0007481" @@ -111702,11 +108901,11 @@ MONDO:0005956 "SCTID:9012003" MONDO:0005956 "DOID:3481" MONDO:0005956 "UMLS:C0152936" MONDO:0005956 "MESH:D010930" -MONDO:0005956 "ICD10:A20.7" +MONDO:0005956 "ICD10CM:A20.7" MONDO:0003522 "DOID:5576" MONDO:0003522 "SCTID:81903006" +MONDO:0003522 "ICD10CM:F52.32" MONDO:0003522 "NCIT:C34959" -MONDO:0003522 "ICD10:F52.32" MONDO:0013070 "OMIM:612997" MONDO:0013070 "MESH:C567832" MONDO:0013070 "DOID:0070173" @@ -111740,8 +108939,8 @@ MONDO:8000018 "DOID:13941" MONDO:8000018 "ICD9:386.11" MONDO:0014472 "Orphanet:436166" MONDO:0014472 "OMIM:616050" -MONDO:0014472 "ICD10:E85.0" MONDO:0014472 "UMLS:C4015067" +MONDO:0014472 "ICD10CM:E85.0" MONDO:0012004 "Orphanet:143" MONDO:0012004 "SCTID:363481002" MONDO:0012004 "ONCOTREE:PTHC" @@ -111750,10 +108949,10 @@ MONDO:0012004 "SCTID:255037004" MONDO:0012004 "DOID:1540" MONDO:0012004 "ICD9:194.1" MONDO:0012004 "NCIT:C3313" -MONDO:0012004 "ICD10:C75.0" MONDO:0012004 "SCTID:127020005" MONDO:0012004 "OMIM:608266" MONDO:0012004 "NCIT:C9322" +MONDO:0012004 "ICD10CM:C75.0" MONDO:0012004 "NCIT:C4906" MONDO:0012004 "GARD:0007329" NCBITaxon:7711 "GC_ID:1" @@ -111775,20 +108974,20 @@ MONDO:0003067 "DOID:4637" MONDO:0009914 "SCTID:254058002" MONDO:0009914 "UMLS:C0432206" MONDO:0009914 "GARD:0009463" +MONDO:0009914 "ICD10CM:Q78.8" MONDO:0009914 "MESH:C535826" MONDO:0009914 "Orphanet:85174" MONDO:0009914 "ICD9:756.9" -MONDO:0009914 "ICD10:Q78.8" MONDO:0009914 "OMIM:264180" MONDO:0016455 "UMLS:C3267126" MONDO:0016455 "Orphanet:228379" MONDO:0013577 "MedDRA:10063955" -MONDO:0013577 "ICD10:E65" MONDO:0013577 "MESH:D065134" MONDO:0013577 "HP:0100695" MONDO:0013577 "Orphanet:77243" MONDO:0013577 "OMIM:614103" MONDO:0013577 "SCTID:234102003" +MONDO:0013577 "ICD10CM:E65" MONDO:0013406 "UMLS:C3151060" MONDO:0013406 "MESH:C563674" MONDO:0013406 "OMIM:613757" @@ -111802,9 +109001,9 @@ MONDO:0000540 "NCIT:C4638" NCBITaxon:46580 "GC_ID:1" MONDO:0032771 "OMIM:618475" MONDO:0007979 "UMLS:C0410530" +MONDO:0007979 "ICD10CM:Q78.4" MONDO:0007979 "OMIM:156250" MONDO:0007979 "GARD:0003560" -MONDO:0007979 "ICD10:Q78.4" MONDO:0007979 "MESH:C562938" MONDO:0007979 "ICD9:756.59" MONDO:0007979 "SCTID:205481009" @@ -111819,11 +109018,11 @@ MONDO:0010237 "Orphanet:2898" MONDO:0010237 "GARD:0002765" MONDO:0010237 "UMLS:C2931516" MONDO:0010237 "MESH:C537512" -MONDO:0010237 "ICD10:Q87.0" +MONDO:0010237 "ICD10CM:Q87.0" MONDO:0010237 "OMIM:300064" -MONDO:0020302 "ICD10:Q93.5" MONDO:0020302 "UMLS:CN207116" MONDO:0020302 "Orphanet:98794" +MONDO:0020302 "ICD10CM:Q93.5" MONDO:0004485 "NCIT:C35786" MONDO:0004485 "DOID:817" MONDO:0004485 "SCTID:37925008" @@ -111833,18 +109032,17 @@ MONDO:0014847 "DOID:0070172" MONDO:0014847 "UMLS:C4310779" MONDO:0032877 "OMIM:618709" MONDO:0012418 "MESH:C565719" -MONDO:0012418 "DOID:0110514" MONDO:0012418 "UMLS:C1857820" -MONDO:0012418 "ICD10:H90.3" +MONDO:0012418 "DOID:0110514" MONDO:0012418 "OMIM:610143" MONDO:0001122 "NCIT:C34477" MONDO:0001122 "SCTID:35923002" MONDO:0001122 "UMLS:C0008698" -MONDO:0001122 "ICD10:J32.0" +MONDO:0001122 "ICD10CM:J32.0" MONDO:0001122 "DOID:10792" MONDO:0001122 "ICD9:473.0" +MONDO:0017518 "ICD10CM:Q72.8" MONDO:0017518 "Orphanet:295134" -MONDO:0017518 "ICD10:Q72.8" MONDO:0007025 "MESH:D002601" MONDO:0007025 "EFO:1001247" MONDO:0002680 "UMLS:C1135993" @@ -111855,12 +109053,12 @@ MONDO:0021120 "UMLS:C2986655" MONDO:0021120 "ICDO:8158/1" MONDO:0021120 "NCIT:C94759" MONDO:0019948 "SCTID:42779002" +MONDO:0019948 "ICD10CM:G71.2" MONDO:0019948 "OMIM:300718" MONDO:0019948 "OMIM:300717" MONDO:0019948 "DOID:0080090" MONDO:0019948 "ICD9:359.89" MONDO:0019948 "GARD:0012162" -MONDO:0019948 "ICD10:G71.2" MONDO:0019948 "Orphanet:97239" HP:0010674 "UMLS:C4023747" MONDO:0024609 "Orphanet:494448" @@ -111872,44 +109070,42 @@ MONDO:0024609 "DOID:2101" MONDO:0044218 "OMIM:109600" MONDO:0001296 "SCTID:53808001" MONDO:0001296 "ICD9:368.62" +MONDO:0001296 "ICD10CM:H53.62" MONDO:0001296 "DOID:11491" -MONDO:0001296 "ICD10:H53.62" -MONDO:0017904 "ICD10:K76.8" MONDO:0017904 "Orphanet:3196" MONDO:0017904 "UMLS:C2931508" MONDO:0017904 "GARD:0005015" +MONDO:0017904 "ICD10CM:K76.8" MONDO:0017904 "MESH:C537490" MONDO:0017904 "SCTID:723583009" MONDO:0014064 "UMLS:C3554606" MONDO:0014064 "OMIM:615158" MONDO:0014064 "Orphanet:1460" MONDO:0014064 "DOID:0080112" +MONDO:0019831 "ICD10CM:Q21.1" MONDO:0019831 "Orphanet:95500" -MONDO:0019831 "ICD10:Q21.1" MONDO:0011678 "UMLS:C1847866" MONDO:0011678 "OMIM:606528" MONDO:0011678 "MESH:C564701" MONDO:0003301 "SCTID:254770007" MONDO:0003301 "DOID:5147" -MONDO:0003301 "NCIT:C4483" MONDO:0003301 "ICD9:215.9" +MONDO:0003301 "NCIT:C4483" MONDO:0003301 "UMLS:C0346066" MONDO:0004672 "ICD9:121.4" MONDO:0004672 "UMLS:C0015656" -MONDO:0004672 "ICD10:B66.5" +MONDO:0004672 "ICD10CM:B66.5" MONDO:0004672 "DOID:888" MONDO:0004672 "SCTID:54266002" MONDO:0004672 "NCIT:C128388" -MONDO:0017176 "ICD10:G11.8" MONDO:0017176 "Orphanet:276244" MONDO:0017176 "SCTID:91955005" +MONDO:0017176 "ICD10CM:G11.8" MONDO:0018122 "UMLS:CN204494" -MONDO:0018122 "ICD10:Q87.2" +MONDO:0018122 "ICD10CM:Q87.2" MONDO:0018122 "Orphanet:352487" -MONDO:0017833 "ICD10:D47.5" MONDO:0017833 "Orphanet:314950" MONDO:0017833 "UMLS:CN203808" -MONDO:0013859 "ICD10:Q12.0" MONDO:0013859 "DOID:0110245" MONDO:0013859 "OMIM:614691" MONDO:0013859 "Orphanet:91492" @@ -111920,7 +109116,6 @@ MONDO:0005900 "EFO:0007423" MONDO:0005900 "MESH:D010309" MONDO:0005900 "NCIT:C114281" MONDO:0005900 "DOID:10301" -MONDO:0005900 "ICD10:K11.2" MONDO:0043206 "GARD:0005269" MONDO:0043206 "UMLS:C0263487" MONDO:0043206 "MESH:C536558" @@ -111935,7 +109130,7 @@ MONDO:0012282 "GARD:0010054" MONDO:0012282 "UMLS:C1836121" MONDO:0001343 "ICD9:588.9" MONDO:0001343 "ICD9:588.8" -MONDO:0001343 "ICD10:N25" +MONDO:0001343 "ICD10CM:N25" MONDO:0001343 "SCTID:197663003" MONDO:0001343 "ICD9:588.89" MONDO:0001343 "DOID:11705" @@ -111944,18 +109139,17 @@ MONDO:0007246 "MESH:C566182" MONDO:0007246 "UMLS:C1861974" NCBITaxon:260964 "GC_ID:1" MONDO:0016164 "UMLS:CN226858" +MONDO:0016164 "ICD10CM:L10.2" MONDO:0016164 "Orphanet:208524" -MONDO:0016164 "ICD10:L10.2" MONDO:0010647 "DOID:0070185" MONDO:0010647 "OMIM:309120" MONDO:0010647 "UMLS:C1839841" MONDO:0005254 "EFO:0003146" MONDO:0017449 "HP:0001171" -MONDO:0017449 "ICD10:Q71.6" MONDO:0017449 "Orphanet:294992" +MONDO:0019540 "ICD10CM:J98.4" MONDO:0019540 "UMLS:CN206369" MONDO:0019540 "Orphanet:90060" -MONDO:0019540 "ICD10:J98.4" MONDO:0019540 "HP:0025420" MONDO:0013009 "UMLS:C2748555" MONDO:0013009 "OMIM:612785" @@ -111982,38 +109176,37 @@ MONDO:0044647 "OMIM:617114" MONDO:0001530 "UMLS:C0271847" MONDO:0001530 "SCTID:19034001" MONDO:0001530 "ICD9:588.81" -MONDO:0001530 "ICD10:N25.81" +MONDO:0001530 "ICD10CM:N25.81" MONDO:0001530 "DOID:12465" MONDO:0007433 "UMLS:C1852223" MONDO:0007433 "MESH:C565115" MONDO:0007433 "OMIM:125320" MONDO:0004359 "SCTID:48500005" -MONDO:0004359 "ICD10:F22" MONDO:0004359 "ICD9:297.1" -MONDO:0004359 "ICD10:F22.0" MONDO:0004359 "NCIT:C94379" +MONDO:0004359 "ICD10CM:F22.0" MONDO:0004359 "DOID:778" HP:0003110 "UMLS:C4025655" -MONDO:0016047 "ICD10:H44.1" +MONDO:0016047 "ICD10CM:H44.1" MONDO:0016047 "MESH:D009877" MONDO:0016047 "ICD9:360.19" MONDO:0016047 "SCTID:1847009" MONDO:0016047 "Orphanet:199323" MONDO:0016047 "MedDRA:10014801" +MONDO:0016047 "ICD10CM:H44.0" MONDO:0016047 "DOID:4692" MONDO:0016047 "UMLS:C0014236" MONDO:0016047 "NCIT:C34586" -MONDO:0016047 "ICD10:H44.0" -MONDO:0019423 "ICD10:Q87.8" MONDO:0019423 "UMLS:CN206179" MONDO:0019423 "Orphanet:85326" +MONDO:0019423 "ICD10CM:Q87.8" MONDO:0019423 "SCTID:718911005" MONDO:0011227 "OMIM:602471" MONDO:0011227 "MESH:C566544" MONDO:0011227 "SCTID:417081007" MONDO:0011227 "Orphanet:397623" -MONDO:0011227 "ICD10:Q87.1" MONDO:0011227 "UMLS:C1865361" +MONDO:0011227 "ICD10CM:Q87.1" MONDO:0100428 "Orphanet:56965" MONDO:0100428 "OMIM:211500" MONDO:0100428 "DOID:0080632" @@ -112032,20 +109225,20 @@ MONDO:0013408 "UMLS:C4509831" MONDO:0013408 "OMIM:613759" MONDO:0013408 "UMLS:C3151062" MONDO:0013408 "Orphanet:306550" -MONDO:0015288 "ICD10:H19.1*" MONDO:0015288 "EFO:0007308" MONDO:0015288 "UMLS:C0022570" MONDO:0015288 "SCTID:9389005" MONDO:0015288 "Orphanet:137586" +MONDO:0015288 "ICD10EXP:B00.5+" +MONDO:0015288 "ICD10EXP:H19.1*" MONDO:0015288 "NCIT:C34743" -MONDO:0015288 "ICD10:B00.5+" MONDO:0015288 "DOID:0080158" MONDO:0015288 "UMLS:C0019357" MONDO:0002112 "NCIT:C7354" MONDO:0002112 "DOID:1789" MONDO:0002112 "NCIT:C7633" MONDO:0008015 "ICD9:994.6" -MONDO:0008015 "ICD10:T75.3" +MONDO:0008015 "ICD10CM:T75.3" MONDO:0008015 "MESH:D009041" MONDO:0008015 "UMLS:C0026603" MONDO:0008015 "OMIM:158280" @@ -112070,9 +109263,8 @@ MONDO:0003685 "NCIT:C6447" MONDO:0003685 "UMLS:C1335776" MONDO:0003685 "DOID:5874" MONDO:0020128 "DOID:231" -MONDO:0020128 "ICD10:G12.2" +MONDO:0020128 "ICD10CM:G12.2" MONDO:0020128 "MedDRA:10028003" -MONDO:0020128 "ICD10:G12.20" MONDO:0020128 "SCTID:37340000" MONDO:0020128 "ICD9:335.8" MONDO:0020128 "ICD9:335.2" @@ -112082,30 +109274,28 @@ MONDO:0020128 "MESH:D016472" MONDO:0020128 "Orphanet:98503" MONDO:0010239 "UMLS:C1848201" MONDO:0010239 "Orphanet:99796" +MONDO:0010239 "ICD10CM:Q04.3" MONDO:0010239 "UMLS:C4275012" MONDO:0010239 "OMIM:300067" -MONDO:0010239 "ICD10:Q04.3" MONDO:0010239 "SCTID:715780008" MONDO:0010239 "UMLS:C1848199" MONDO:0010239 "GARD:0006914" MONDO:0010239 "Orphanet:2148" -MONDO:0020304 "ICD10:Q98.6" MONDO:0020304 "Orphanet:98797" MONDO:0020304 "SCTID:766708008" +MONDO:0020304 "ICD10CM:Q98.6" MONDO:0014849 "OMIM:616958" MONDO:0018092 "ICD9:363.22" -MONDO:0018092 "ICD10:H30.81" +MONDO:0018092 "ICD10CM:H30.8" MONDO:0018092 "ICD9:364.24" MONDO:0018092 "UMLS:C0042170" -MONDO:0018092 "ICD10:H20.82" +MONDO:0018092 "ICD10CM:H20.8" MONDO:0018092 "Orphanet:3437" MONDO:0018092 "SCTID:193497004" MONDO:0018092 "MESH:D014607" MONDO:0018092 "GARD:0007862" MONDO:0018092 "NCIT:C85218" -MONDO:0018092 "ICD10:H30.8" MONDO:0018092 "DOID:12297" -MONDO:0018092 "ICD10:H20.8" NCBITaxon:69826 "GC_ID:1" HP:0011035 "UMLS:C4023580" MONDO:0019246 "UMLS:CN227605" @@ -112114,10 +109304,9 @@ MONDO:0000345 "SCTID:72880002" MONDO:0000345 "MEDGEN:547314" MONDO:0000345 "DOID:0050521" MONDO:0000345 "UMLS:C0276386" -MONDO:0017906 "ICD10:E85.4+" -MONDO:0017906 "ICD10:L99.0*" +MONDO:0017906 "ICD10EXP:E85.4+" +MONDO:0017906 "ICD10EXP:L99.0*" MONDO:0017906 "Orphanet:319635" -NCBITaxon:92860 "GC_ID:1" MONDO:0004087 "UMLS:C1332463" MONDO:0004087 "NCIT:C7266" MONDO:0004087 "ONCOTREE:BLCLC" @@ -112128,6 +109317,7 @@ MONDO:0033006 "DOID:0080244" MONDO:0033006 "Orphanet:2065" MONDO:0015654 "UMLS:CN200064" MONDO:0015654 "Orphanet:166475" +NCBITaxon:92860 "GC_ID:1" MONDO:0006287 "NCIT:C4304" MONDO:0006287 "DOID:4719" MONDO:0006287 "ICDO:9250/3" @@ -112136,11 +109326,11 @@ MONDO:0006287 "UMLS:C0334552" NCBITaxon:6757 "GC_ID:1" MONDO:0018439 "ICD9:558.42" MONDO:0018439 "Orphanet:402035" +MONDO:0018439 "ICD10CM:K52.8" +MONDO:0018439 "ICD10CM:K52.82" MONDO:0018439 "NCIT:C27053" -MONDO:0018439 "ICD10:K52.82" MONDO:0018439 "UMLS:C0267448" MONDO:0018439 "SCTID:29120000" -MONDO:0018439 "ICD10:K52.8" MONDO:0006116 "UMLS:C3642344" MONDO:0006116 "NCIT:C53553" MONDO:0006116 "EFO:1000143" @@ -112160,7 +109350,6 @@ HP:0006685 "SNOMEDCT_US:398716006" MONDO:0100101 "Orphanet:994" MONDO:0100101 "DOID:0111377" MONDO:0100101 "OMIM:208150" -MONDO:0001786 "ICD10:N71.9" MONDO:0001786 "SCTID:28783002" MONDO:0001786 "ICD9:615.9" MONDO:0001786 "UMLS:C0269047" @@ -112168,7 +109357,7 @@ MONDO:0001786 "DOID:13736" MONDO:0007689 "OMIM:139290" MONDO:0017037 "Orphanet:264968" MONDO:0017037 "UMLS:CN202348" -MONDO:0008222 "ICD10:G72.3" +MONDO:0008222 "ICD10CM:G72.3" MONDO:0008222 "ICD9:759.89" MONDO:0008222 "MESH:D050030" MONDO:0008222 "DOID:0050434" @@ -112188,7 +109377,6 @@ MONDO:0005104 "EFO:0000737" MONDO:0021629 "NCIT:C40133" MONDO:0021629 "UMLS:C1519870" MONDO:0012919 "OMIM:612520" -MONDO:0012919 "ICD10:E10" MONDO:0012919 "UMLS:C2675866" MONDO:0012919 "MESH:C567286" MONDO:0012919 "DOID:0110757" @@ -112210,13 +109398,13 @@ MONDO:0015912 "UMLS:CN226270" MONDO:0015912 "OMIM:153640" MONDO:0015912 "UMLS:CN226018" MONDO:0015912 "GARD:0000180" -MONDO:0015912 "ICD10:D69.4" MONDO:0015912 "UMLS:CN226030" MONDO:0015912 "OMIM:605249" MONDO:0015912 "OMIM:153650" MONDO:0015912 "SCTID:712922002" MONDO:0015912 "SCTID:236422008" MONDO:0015912 "DOID:0060651" +MONDO:0015912 "ICD10CM:D69.4" MONDO:0015912 "SCTID:234485006" MONDO:0015912 "ICD9:759.89" MONDO:0015912 "GARD:0000179" @@ -112233,17 +109421,17 @@ MONDO:0021493 "SCTID:92220004" MONDO:0021493 "UMLS:C0345615" MONDO:0021493 "ICD9:210.4" MONDO:0021493 "NCIT:C4411" +MONDO:0011229 "ICD10CM:G31.8" MONDO:0011229 "OMIM:602473" MONDO:0011229 "DOID:0060640" MONDO:0011229 "MESH:C535737" MONDO:0011229 "GARD:0002198" -MONDO:0011229 "ICD10:G31.8" MONDO:0011229 "SCTID:723307008" MONDO:0011229 "Orphanet:51188" MONDO:0011229 "UMLS:C1865349" MONDO:0017403 "UMLS:CN203147" -MONDO:0017403 "ICD10:I42.8" MONDO:0017403 "OMIM:107970" +MONDO:0017403 "ICD10CM:I42.8" MONDO:0017403 "Orphanet:293910" MONDO:0017403 "OMIM:610193" MONDO:0024545 "UMLS:C1850808" @@ -112258,8 +109446,8 @@ MONDO:0020296 "SCTID:234148007" MONDO:0020296 "Orphanet:98731" MONDO:0020296 "MedDRA:10003226" MONDO:0011006 "Orphanet:447753" -MONDO:0011006 "ICD10:G11.4" MONDO:0011006 "MESH:C536868" +MONDO:0011006 "ICD10CM:G11.4" MONDO:0011006 "OMIM:601162" MONDO:0011006 "UMLS:CN237701" MONDO:0011006 "DOID:0110824" @@ -112268,8 +109456,8 @@ MONDO:0007923 "GARD:0000147" MONDO:0007923 "OMIM:153470" MONDO:0007923 "MESH:C537717" MONDO:0017770 "UMLS:C4302956" -MONDO:0017770 "ICD10:Q87.1" MONDO:0017770 "SCTID:721905000" +MONDO:0017770 "ICD10CM:Q87.1" MONDO:0017770 "Orphanet:3105" MONDO:0017770 "UMLS:CN203671" MONDO:0032916 "OMIM:618786" @@ -112277,7 +109465,7 @@ MONDO:0003327 "UMLS:C1335387" MONDO:0003327 "NCIT:C6594" MONDO:0003327 "DOID:5195" MONDO:0018281 "Orphanet:371007" -MONDO:0018281 "ICD10:G71.2" +MONDO:0018281 "ICD10CM:G71.2" MONDO:0018281 "SCTID:763314009" MONDO:0000802 "DOID:0060527" HP:0000992 "MSH:D010787" @@ -112285,19 +109473,18 @@ HP:0000992 "SNOMEDCT_US:90128006" HP:0000992 "UMLS:C0349506" MONDO:0001335 "UMLS:C0155214" MONDO:0001335 "SCTID:70738004" -MONDO:0001335 "ICD10:H02.72" MONDO:0001335 "DOID:11671" MONDO:0001335 "ICD9:374.55" MONDO:0022587 "GARD:0000921" MONDO:0016644 "UMLS:C4049711" MONDO:0016644 "SCTID:716380002" -MONDO:0016644 "ICD10:G31.0" +MONDO:0016644 "ICD10CM:G31.0" MONDO:0016644 "GARD:0010791" MONDO:0016644 "Orphanet:250831" MONDO:0015621 "Orphanet:165711" MONDO:0015621 "UMLS:CN199996" -MONDO:0007277 "ICD10:Q87.8" MONDO:0007277 "SCTID:715988005" +MONDO:0007277 "ICD10CM:Q87.8" MONDO:0007277 "Orphanet:1373" MONDO:0007277 "MESH:C536691" MONDO:0007277 "OMIM:115645" @@ -112305,42 +109492,37 @@ MONDO:0007277 "GARD:0005554" MONDO:0018844 "SCTID:17234001" MONDO:0018844 "MedDRA:10065375" MONDO:0018844 "Orphanet:488" -MONDO:0018844 "ICD10:Q64.4" +MONDO:0018844 "ICD10CM:Q64.4" MONDO:0018844 "MESH:D014496" MONDO:0018844 "NCIT:C85216" MONDO:0018844 "GARD:0005425" MONDO:0018844 "HP:0012618" +MONDO:0008608 "ICD10CM:Q90.1" MONDO:0008608 "NIFSTD:nlx_dys_20090502" MONDO:0008608 "ICD9:758.0" MONDO:0008608 "DOID:14250" MONDO:0008608 "NCIT:C2993" -MONDO:0008608 "ICD10:Q90.0" MONDO:0008608 "UMLS:C0013080" -MONDO:0008608 "ICD10:Q90.9" -MONDO:0008608 "ICD10:Q90.1" +MONDO:0008608 "ICD10CM:Q90.2" +MONDO:0008608 "ICD10CM:Q90.9" MONDO:0008608 "MESH:D004314" +MONDO:0008608 "ICD10CM:Q90.0" MONDO:0008608 "Orphanet:870" -MONDO:0008608 "ICD10:Q90.2" MONDO:0008608 "MedDRA:10044688" -MONDO:0008608 "ICD10:Q90" MONDO:0008608 "OMIM:190685" MONDO:0008608 "EFO:0001064" MONDO:0008608 "GARD:0010247" MONDO:0008608 "SCTID:41040004" MONDO:0005965 "DOID:6725" -MONDO:0005965 "ICD10:M48.00" MONDO:0005965 "EFO:0007490" MONDO:0005965 "ICD9:724.00" -MONDO:0005965 "ICD10:M48.0" MONDO:0005965 "HP:0003416" MONDO:0005965 "ICD9:724.09" MONDO:0005965 "SCTID:76107001" -MONDO:0005965 "ICD10:M48.06" MONDO:0005965 "MESH:D013130" -MONDO:0005965 "ICD10:M48.02" MONDO:0005965 "ICD9:723.0" MONDO:0016908 "Orphanet:262074" -MONDO:0016908 "ICD10:Q93.5" +MONDO:0016908 "ICD10CM:Q93.5" MONDO:0013521 "Orphanet:1775" MONDO:0013521 "Orphanet:3322" MONDO:0013521 "OMIM:613989" @@ -112354,42 +109536,39 @@ MONDO:0011360 "MESH:C566344" MONDO:0011360 "UMLS:C1863613" MONDO:0011360 "DOID:0110469" MONDO:0011360 "OMIM:603678" -MONDO:0011360 "ICD10:H90.3" MONDO:0012833 "NCIT:C38145" MONDO:0012833 "OMIM:612247" MONDO:0012833 "Orphanet:93262" +MONDO:0012833 "ICD10CM:Q75.1" MONDO:0012833 "DOID:0111161" MONDO:0012833 "SCTID:702361006" MONDO:0012833 "MESH:C567382" -MONDO:0012833 "ICD10:Q75.1" MONDO:0003193 "NCIT:C27813" MONDO:0003193 "DOID:4896" MONDO:0003193 "UMLS:C1370800" MONDO:0100409 "NCIT:C7600" MONDO:0100409 "NCIT:C36415" MONDO:0002776 "SCTID:49130001" -MONDO:0002776 "ICD10:H61.9" +MONDO:0002776 "ICD10CM:H60-H62" MONDO:0002776 "UMLS:C0155388" MONDO:0002776 "ICD9:380.9" MONDO:0002776 "ICD9:380" MONDO:0002776 "ICD9:744.47" -MONDO:0002776 "ICD10:H60-H62" MONDO:0002776 "DOID:379" -MONDO:0002776 "ICD10:H60.H62" MONDO:0002776 "NCIT:C26972" CL:1001569 "FMA:84777" -MONDO:0015504 "ICD10:Q31.1" -MONDO:0015504 "ICD10:Q31.9" +MONDO:0015504 "ICD10CM:Q31.9" +MONDO:0015504 "ICD10CM:Q31.5" MONDO:0015504 "Orphanet:156249" -MONDO:0015504 "ICD10:Q31.8" -MONDO:0015504 "ICD10:Q31.5" -MONDO:0015504 "ICD10:Q31.0" -MONDO:0015504 "ICD10:Q31.3" +MONDO:0015504 "ICD10CM:Q31.3" +MONDO:0015504 "ICD10CM:Q31.0" +MONDO:0015504 "ICD10CM:Q31.8" +MONDO:0015504 "ICD10CM:Q31.1" MONDO:0009212 "GARD:0006404" MONDO:0009212 "ICD9:286.3" MONDO:0009212 "MESH:D005171" +MONDO:0009212 "ICD10CM:D68.2" MONDO:0009212 "Orphanet:328" -MONDO:0009212 "ICD10:D68.2" MONDO:0009212 "DOID:2222" MONDO:0009212 "OMIM:227600" MONDO:0009212 "SCTID:37350004" @@ -112399,10 +109578,10 @@ MONDO:0010489 "OMIM:300928" MONDO:0010489 "UMLS:C3890168" MONDO:0020554 "ICD9:518.89" MONDO:0020554 "SCTID:707441009" -MONDO:0020554 "ICD10:J99.8*" MONDO:0020554 "Orphanet:99932" +MONDO:0020554 "ICD10EXP:E83.1+" MONDO:0020554 "UMLS:CN207456" -MONDO:0020554 "ICD10:E83.1+" +MONDO:0020554 "ICD10EXP:J99.8*" MONDO:0013909 "OMIM:614836" MONDO:0000605 "DOID:0060056" MONDO:0000605 "SCTID:473010000" @@ -112410,9 +109589,9 @@ MONDO:0000605 "EFO:1002003" MONDO:0000605 "NCIT:C3114" MONDO:0011093 "UMLS:C1291490" MONDO:0011093 "Orphanet:67041" -MONDO:0011093 "ICD10:E76.2" MONDO:0011093 "NCIT:C129073" MONDO:0011093 "DOID:0050809" +MONDO:0011093 "ICD10CM:E76.2" MONDO:0011093 "OMIM:601492" MONDO:0011093 "ICD9:277.6" MONDO:0011093 "SCTID:124473006" @@ -112427,27 +109606,24 @@ MONDO:0032780 "OMIM:618493" NCBITaxon:8045 "GC_ID:1" MONDO:0019636 "Orphanet:93100" MONDO:0019636 "NCIT:C101220" -MONDO:0019636 "ICD10:Q60.0" MONDO:0019636 "UMLS:C0266294" MONDO:0019636 "MedDRA:10053624" +MONDO:0019636 "ICD10CM:Q60.0" MONDO:0017202 "DOID:11752" MONDO:0017202 "MedDRA:10000730" MONDO:0017202 "ICD9:360.01" MONDO:0017202 "SCTID:1493002" MONDO:0017202 "Orphanet:279888" -MONDO:0017202 "ICD10:H44.0" -MONDO:0017202 "ICD10:H44.1" +MONDO:0017202 "ICD10CM:H44.0" +MONDO:0017202 "ICD10CM:H44.1" MONDO:0017202 "UMLS:C0154773" MONDO:0002043 "ICD9:374.10" MONDO:0002043 "UMLS:C0013592" -MONDO:0002043 "ICD10:H02.10" MONDO:0002043 "ICD9:374.1" MONDO:0002043 "MESH:D004483" -MONDO:0002043 "ICD10:H02.109" -MONDO:0002043 "SCTID:62909004" MONDO:0002043 "DOID:1570" +MONDO:0002043 "SCTID:62909004" MONDO:0002043 "HP:0000656" -MONDO:0002043 "ICD10:H02.1" MONDO:0015327 "Orphanet:139009" MONDO:0002368 "ICDO:8460/3" MONDO:0002368 "NCIT:C8377" @@ -112461,7 +109637,6 @@ MONDO:0002251 "NCIT:C3095" MONDO:0002251 "SCTID:197268000" MONDO:0002251 "ICD9:571.41" MONDO:0002251 "ICD9:571.40" -MONDO:0002251 "ICD10:K73.9" MONDO:0002251 "EFO:0008496" MONDO:0002251 "ICD9:571.4" MONDO:0002251 "ICD9:570" @@ -112469,10 +109644,9 @@ CL:0002232 "FMA:74224" MONDO:0018951 "GARD:0001887" MONDO:0018951 "OMIM:606070" MONDO:0018951 "Orphanet:600" -MONDO:0018951 "ICD10:G71.0" +MONDO:0018951 "ICD10CM:G71.0" MONDO:0018951 "UMLS:CN205357" HP:0012823 "UMLS:C4021064" -MONDO:0004681 "ICD10:F81.9" MONDO:0004681 "SCTID:1855002" MONDO:0004681 "NCIT:C89334" MONDO:0004681 "MESH:D007859" @@ -112480,8 +109654,8 @@ MONDO:0004681 "UMLS:CN229495" MONDO:0004681 "DOID:8927" MONDO:0004681 "ICD9:315.2" MONDO:0014511 "OMIM:616155" -MONDO:0014511 "ICD10:G60.0" MONDO:0014511 "Orphanet:443073" +MONDO:0014511 "ICD10CM:G60.0" MONDO:0014511 "UMLS:C4015349" MONDO:0014511 "DOID:0110171" NCBITaxon:209 "PMID:11156001" @@ -112512,30 +109686,28 @@ MONDO:0006001 "MESH:D012553" MONDO:0006001 "UMLS:C0276926" MONDO:0020157 "UMLS:CN227802" MONDO:0020157 "Orphanet:98566" -MONDO:0009182 "ICD10:Q81.1" MONDO:0009182 "OMIM:226700" MONDO:0009182 "DOID:0060737" MONDO:0009182 "GARD:0002153" MONDO:0009182 "Orphanet:79404" MONDO:0009182 "SCTID:400140006" MONDO:0010268 "SCTID:717632002" -MONDO:0010268 "ICD10:Q04.3" MONDO:0010268 "GARD:0012491" MONDO:0010268 "OMIM:300215" MONDO:0010268 "Orphanet:452" MONDO:0010268 "MESH:C564563" +MONDO:0010268 "ICD10CM:Q04.3" MONDO:0017196 "UMLS:CN202641" MONDO:0017196 "GARD:0000587" MONDO:0017196 "Orphanet:2773" -MONDO:0017196 "ICD10:Q87.8" +MONDO:0017196 "ICD10CM:Q87.8" MONDO:0017196 "MESH:C535617" MONDO:0017196 "SCTID:722110003" MONDO:0018142 "Orphanet:353314" +MONDO:0018142 "ICD10CM:E74.4" MONDO:0018142 "OMIM:266150" -MONDO:0018142 "ICD10:E74.4" MONDO:0018142 "UMLS:CN204539" MONDO:0017372 "NCIT:C116800" -MONDO:0017372 "ICD10:P35.8" MONDO:0017372 "ICD9:771.2" MONDO:0017372 "GARD:0000045" MONDO:0017372 "SCTID:277644009" @@ -112546,34 +109718,32 @@ MONDO:0008253 "OMIM:173400" MONDO:0008253 "MESH:C566800" HP:0005368 "UMLS:C3150510" MONDO:0020743 "NCIT:C82179" -MONDO:0020743 "ICD10:C95.0" MONDO:0020743 "MedDRA:10067399" MONDO:0020743 "Orphanet:530995" MONDO:0000597 "GARD:0007117" MONDO:0000597 "MESH:D016735" MONDO:0000597 "SCTID:95637005" MONDO:0000597 "DOID:0060045" -MONDO:0022756 "ICD10:Q93.5" +MONDO:0022756 "ICD10CM:Q93.5" MONDO:0022756 "GARD:0008669" MONDO:0022756 "UMLS:CN072190" MONDO:0022756 "Orphanet:262001" MONDO:0005744 "ICDO:9071/3" MONDO:0005744 "OMIM:273300" -MONDO:0005744 "ICD10:C62.9" MONDO:0005744 "NCIT:C3011" MONDO:0005744 "ONCOTREE:BYST" MONDO:0005744 "EFO:0007252" -MONDO:0005744 "ICD10:C56" MONDO:0005744 "Orphanet:876" MONDO:0005744 "UMLS:C0014145" +MONDO:0005744 "ICD10CM:C56" MONDO:0005744 "MedDRA:10048251" MONDO:0005744 "DOID:1911" MONDO:0005744 "SCTID:404081005" +MONDO:0005744 "ICD10CM:C62.9" MONDO:0001500 "SCTID:87991007" MONDO:0001500 "EFO:0008587" MONDO:0001500 "DOID:1234" MONDO:0001500 "ICD9:302.8" -MONDO:0001500 "ICD10:F64.2" MONDO:0001500 "ICD9:302.89" MONDO:0001500 "NCIT:C94362" MONDO:0001500 "ICD9:302.6" @@ -112585,17 +109755,17 @@ MONDO:0009486 "Orphanet:2333" MONDO:0009486 "NCIT:C130992" MONDO:0009486 "GARD:0008367" MONDO:0009486 "OMIM:244460" -MONDO:0009486 "ICD10:Q87.1" +MONDO:0009486 "ICD10CM:Q87.1" MONDO:0003700 "UMLS:C1332602" MONDO:0003700 "DOID:5913" MONDO:0003700 "NCIT:C5823" MONDO:0012835 "OMIM:612253" +MONDO:0007442 "ICD10CM:K00.5" MONDO:0007442 "OMIM:125500" MONDO:0007442 "Orphanet:166265" MONDO:0007442 "GARD:0010144" MONDO:0007442 "SCTID:234970006" MONDO:0007442 "ICD9:520.5" -MONDO:0007442 "ICD10:K00.5" MONDO:0007442 "MESH:C538216" MONDO:0010583 "UMLS:C1844654" MONDO:0010583 "Orphanet:239" @@ -112605,14 +109775,14 @@ MONDO:0012612 "MESH:C567019" MONDO:0012612 "UMLS:C1970200" MONDO:0012612 "OMIM:611090" MONDO:0016360 "Orphanet:220448" -MONDO:0016360 "ICD10:D69.4" +MONDO:0016360 "ICD10CM:D69.4" MONDO:0001999 "OMIM:178600" -MONDO:0001999 "ICD10:I27.0" MONDO:0001999 "NCIT:C97119" MONDO:0001999 "Orphanet:422" MONDO:0001999 "OMIM:615342" MONDO:0001999 "DOID:14557" MONDO:0001999 "ICD9:416.0" +MONDO:0001999 "ICD10CM:I27.0" MONDO:0001999 "OMIM:615343" MONDO:0001999 "OMIM:265400" MONDO:0001999 "OMIM:615344" @@ -112638,13 +109808,12 @@ MONDO:0008474 "Orphanet:93284" MONDO:0014103 "UMLS:C3808975" MONDO:0014103 "DOID:0090076" MONDO:0014103 "OMIM:615267" -MONDO:0014103 "ICD10:E23.0" MONDO:0014103 "Orphanet:478" CL:1001606 "CALOHA:TS-0385" -MONDO:0013040 "ICD10:D58.8" MONDO:0013040 "Orphanet:2134" MONDO:0013040 "OMIM:612922" MONDO:0013040 "Orphanet:93576" +MONDO:0013040 "ICD10CM:D58.8" MONDO:0010654 "Orphanet:94083" MONDO:0010654 "GARD:0004235" MONDO:0010654 "DOID:14744" @@ -112653,9 +109822,12 @@ MONDO:0011600 "UMLS:C1853949" MONDO:0011600 "OMIM:605809" MONDO:0011600 "Orphanet:590" MONDO:0011600 "DOID:0110678" +MONDO:0043519 "ICD10CM:T26-T28" MONDO:0043519 "MESH:D002056" +MONDO:0043519 "ICD10CM:T20-T25" MONDO:0043519 "SCTID:125666000" MONDO:0043519 "EFO:1001768" +MONDO:0043519 "ICD10CM:T30-T32" MONDO:0043519 "NCIT:C34441" MONDO:0011165 "OMIM:601894" MONDO:0011165 "Orphanet:84090" @@ -112675,9 +109847,10 @@ MONDO:0007949 "DOID:0111510" MONDO:0007949 "UMLS:C0265235" MONDO:0007949 "GARD:0006984" MONDO:0007949 "SCTID:33410002" +MONDO:0007949 "ICD10CM:Q87.0" MONDO:0007949 "ICD9:759.89" MONDO:0007949 "NCIT:C128115" -MONDO:0007949 "ICD10:Q87.0" +MONDO:0008318 "ICD10CM:Q87.3" MONDO:0008318 "SCTID:23150001" MONDO:0008318 "NCIT:C85032" MONDO:0008318 "UMLS:C0085261" @@ -112686,16 +109859,15 @@ MONDO:0008318 "Orphanet:744" MONDO:0008318 "ICD9:759.89" MONDO:0008318 "MESH:D016715" MONDO:0008318 "OMIM:176920" -MONDO:0008318 "ICD10:Q87.3" MONDO:0008318 "DOID:13482" MONDO:0008318 "GARD:0007475" +MONDO:0009876 "ICD10CM:E23.0" MONDO:0009876 "Orphanet:231662" MONDO:0009876 "SCTID:237837007" MONDO:0009876 "MESH:C537404" MONDO:0009876 "Orphanet:631" MONDO:0009876 "DOID:0060873" MONDO:0009876 "OMIM:262400" -MONDO:0009876 "ICD10:E23.0" MONDO:0009876 "GARD:0007399" MONDO:0009876 "ICD9:259.4" MONDO:0015023 "DOID:0110933" @@ -112704,7 +109876,7 @@ MONDO:0015023 "UMLS:C4479695" MONDO:0015023 "UMLS:C4479186" MONDO:0015023 "UMLS:CN240509" MONDO:0013344 "OMIM:613656" -MONDO:0017092 "ICD10:Q04.3" +MONDO:0017092 "ICD10CM:Q04.3" MONDO:0017092 "Orphanet:268943" MONDO:0017092 "UMLS:C4024960" MONDO:0017092 "SCTID:715905006" @@ -112733,7 +109905,7 @@ MONDO:0002650 "DOID:3445" MONDO:0002650 "UMLS:C1370468" MONDO:0015719 "Orphanet:169802" MONDO:0015719 "UMLS:C0272322" -MONDO:0015719 "ICD10:D66" +MONDO:0015719 "ICD10CM:D66" MONDO:0015719 "SCTID:16872008" MONDO:0011386 "OMIM:603933" MONDO:0015210 "Orphanet:108965" @@ -112741,8 +109913,8 @@ MONDO:0015210 "UMLS:CN226627" MONDO:0012332 "UMLS:C1864761" MONDO:0012332 "OMIM:609698" MONDO:0012332 "Orphanet:171706" +MONDO:0012332 "ICD10CM:E03.1" MONDO:0012332 "MESH:C566454" -MONDO:0012332 "ICD10:E03.1" MONDO:0014785 "UMLS:C4225195" MONDO:0014785 "OMIM:616817" MONDO:0013415 "GARD:0010996" @@ -112750,10 +109922,10 @@ MONDO:0013415 "UMLS:C3151069" MONDO:0013415 "OMIM:613776" MONDO:0013415 "DOID:0060402" MONDO:0009371 "MESH:C535312" +MONDO:0009371 "ICD10CM:E71.1" MONDO:0009371 "ICD9:791.9" MONDO:0009371 "SCTID:237957007" MONDO:0009371 "Orphanet:939" -MONDO:0009371 "ICD10:E71.1" MONDO:0009371 "OMIM:236795" MONDO:0009371 "GARD:0005662" MONDO:0009371 "UMLS:C0342737" @@ -112784,26 +109956,26 @@ MONDO:0015193 "Orphanet:1041" MONDO:0015193 "NCIT:C84767" MONDO:0015193 "GARD:0002301" MONDO:0015193 "UMLS:C0020305" +MONDO:0015193 "ICD10CM:P83.2" MONDO:0015193 "OMIM:236750" MONDO:0015193 "SCTID:276508000" -MONDO:0015193 "ICD10:P56.9" -MONDO:0015193 "ICD10:P56.0" +MONDO:0015193 "ICD10CM:P56.0" MONDO:0015193 "MedDRA:10020529" +MONDO:0015193 "ICD10CM:P56.9" MONDO:0015193 "GARD:0002783" -MONDO:0015193 "ICD10:P83.2" CL:1000892 "KUPO:0001030" MONDO:0019309 "GARD:0012921" MONDO:0019309 "UMLS:C4304724" MONDO:0019309 "SCTID:719432000" MONDO:0019309 "UMLS:CN205949" -MONDO:0019309 "ICD10:Q81.8" +MONDO:0019309 "ICD10CM:Q81.8" MONDO:0019309 "Orphanet:79406" NCBITaxon:162474 "GC_ID:1" MONDO:0020745 "OMIM:115000" +MONDO:0020745 "UMLS:C5542154" MONDO:0022758 "MESH:C536798" MONDO:0022758 "UMLS:CN036765" MONDO:0020322 "DOID:9953" -MONDO:0020322 "ICD10:C95.0" MONDO:0020322 "EFO:1000828" MONDO:0020322 "ICD9:207.80" MONDO:0020322 "MedDRA:10067399" @@ -112813,10 +109985,11 @@ MONDO:0020322 "Orphanet:98837" MONDO:0020322 "SCTID:278453007" MONDO:0020322 "UMLS:C0023464" MONDO:0020322 "ICDO:9805/3" +MONDO:0020322 "ICD10CM:C95.0" MONDO:0020322 "NCIT:C4673" MONDO:0010433 "OMIM:300809" MONDO:0016595 "SCTID:11389007" -MONDO:0016595 "ICD10:A22.1" +MONDO:0016595 "ICD10CM:A22.1" MONDO:0016595 "MESH:C571912" MONDO:0016595 "UMLS:C0155866" MONDO:0016595 "MedDRA:10035667" @@ -112834,7 +110007,6 @@ MONDO:0014355 "OMIM:615821" MONDO:0014355 "Orphanet:65282" MONDO:0014355 "UMLS:C4014393" MONDO:0010843 "OMIM:600202" -MONDO:0012081 "ICD10:Q92.3" MONDO:0012081 "UMLS:C2675336" MONDO:0012081 "SCTID:719427001" MONDO:0012081 "UMLS:C4304726" @@ -112856,10 +110028,10 @@ MONDO:0009308 "MESH:C565533" MONDO:0009308 "Orphanet:379" MONDO:0009308 "OMIM:233690" MONDO:0009308 "DOID:0070193" -MONDO:0007221 "DOID:0110970" +MONDO:0007221 "ICD10CM:Q73.8" MONDO:0007221 "UMLS:C1862103" +MONDO:0007221 "DOID:0110970" MONDO:0007221 "MESH:C537093" -MONDO:0007221 "ICD10:Q73.8" MONDO:0007221 "GARD:0000986" MONDO:0007221 "OMIM:113100" MONDO:0007221 "Orphanet:93384" @@ -112870,9 +110042,9 @@ MONDO:0006665 "MedDRA:10003685" MONDO:0006665 "EFO:1000826" MONDO:0006665 "NCIT:C7405" MONDO:0006665 "ICD9:535.11" -MONDO:0006665 "ICD10:K29.4" MONDO:0006665 "ICD9:535.1" MONDO:0006665 "MESH:D005757" +MONDO:0006665 "ICD10CM:K29.4" MONDO:0030007 "OMIM:618838" MONDO:0020628 "OMIM:618097" MONDO:0020628 "Orphanet:508512" @@ -112887,31 +110059,29 @@ MONDO:0014260 "Orphanet:293978" MONDO:0014260 "UMLS:C3809991" MONDO:0015583 "SCTID:719652007" MONDO:0015583 "Orphanet:163693" +MONDO:0015583 "ICD10CM:Q93.5" MONDO:0015583 "UMLS:C4304537" MONDO:0015583 "OMIM:606407" MONDO:0015583 "UMLS:CN199952" -MONDO:0015583 "ICD10:Q93.5" NCBITaxon:129369 "GC_ID:1" NCBITaxon:6951 "GC_ID:1" NCBITaxon:147571 "GC_ID:1" NCBITaxon:480118 "GC_ID:1" MONDO:0011015 "Orphanet:91492" MONDO:0011015 "UMLS:C1832609" -MONDO:0011015 "Orphanet:98988" MONDO:0011015 "OMIM:601202" -MONDO:0011015 "ICD10:Q12.0" +MONDO:0011015 "Orphanet:98988" MONDO:0011015 "MESH:C537774" MONDO:0011015 "DOID:0110257" NCBITaxon:2560194 "GC_ID:1" MONDO:0060486 "OMIM:617468" MONDO:0000292 "DOID:0050250" -MONDO:0016204 "ICD10:K74.6" MONDO:0016204 "OMIM:215600" MONDO:0016204 "SCTID:715864007" MONDO:0016204 "Orphanet:209919" +MONDO:0016204 "ICD10CM:K74.6" MONDO:0017762 "UMLS:C0012714" MONDO:0017762 "ICD9:275.1" -MONDO:0017762 "ICD10:E83.0" MONDO:0017762 "UMLS:CN043585" MONDO:0017762 "MedDRA:10061091" MONDO:0017762 "Orphanet:309839" @@ -112919,6 +110089,7 @@ MONDO:0017762 "SCTID:79886009" MONDO:0009726 "GARD:0010811" MONDO:0009726 "OMIM:256040" MONDO:0009726 "Orphanet:324977" +MONDO:0009726 "ICD10CM:L98.8" MONDO:0009726 "DOID:0050553" MONDO:0009726 "ICD9:709.8" MONDO:0009726 "GARD:0003917" @@ -112928,38 +110099,36 @@ MONDO:0009726 "Orphanet:325004" MONDO:0009726 "UMLS:CN204109" MONDO:0009726 "Orphanet:2615" MONDO:0009726 "OMIMPS:256040" -MONDO:0009726 "ICD10:L98.8" MONDO:0009726 "GARD:0003916" MONDO:0009726 "GARD:0010988" MONDO:0009726 "UMLS:CN202195" MONDO:0009726 "SCTID:702449004" MONDO:0032876 "OMIM:618707" +MONDO:0015466 "ICD10CM:M89.4" MONDO:0015466 "UMLS:C1531773" MONDO:0015466 "UMLS:CN199601" -MONDO:0015466 "ICD10:M89.4" MONDO:0015466 "Orphanet:1525" MONDO:0015466 "SCTID:720753002" MONDO:0015466 "GARD:0001564" MONDO:0015466 "OMIM:259100" MONDO:0016653 "UMLS:CN201882" -MONDO:0016653 "ICD10:Q93.5" MONDO:0016653 "SCTID:763062006" +MONDO:0016653 "ICD10CM:Q93.5" MONDO:0016653 "Orphanet:251028" MONDO:0042601 "GARD:0000151" MONDO:0042601 "MESH:C537230" MONDO:0042601 "UMLS:C2931448" +MONDO:0007728 "UMLS:CN028850" +MONDO:0007728 "OMIM:142690" MONDO:0020492 "UMLS:C0431391" MONDO:0020492 "ICD9:742.4" -MONDO:0020492 "ICD10:Q04.5" MONDO:0020492 "GARD:0002637" MONDO:0020492 "SCTID:253170008" MONDO:0020492 "Orphanet:99802" +MONDO:0020492 "ICD10CM:Q04.5" MONDO:0020492 "MESH:D065705" -MONDO:0007728 "UMLS:CN028850" -MONDO:0007728 "OMIM:142690" MONDO:0014819 "Orphanet:3107" MONDO:0014819 "UMLS:C4225164" -MONDO:0014819 "ICD10:Q87.1" MONDO:0014819 "Orphanet:97360" MONDO:0014819 "OMIM:616894" MONDO:0014819 "DOID:0060767" @@ -112971,32 +110140,31 @@ MONDO:0003523 "NCIT:C3050" MONDO:0044217 "OMIM:108390" MONDO:0008967 "Orphanet:79095" MONDO:0008967 "UMLS:C3280428" +MONDO:0008967 "ICD10CM:K76.8" MONDO:0008967 "OMIM:214950" -MONDO:0008967 "ICD10:K76.8" MONDO:0008967 "MESH:C535444" MONDO:0008967 "DOID:0111068" MONDO:0008967 "GARD:0010046" MONDO:0008967 "OMIM:614307" MONDO:0017398 "DOID:0060225" MONDO:0017398 "OMIMPS:257920" -MONDO:0017398 "ICD10:Q87.8" MONDO:0017398 "GARD:0001118" MONDO:0017398 "OMIM:265050" MONDO:0017398 "UMLS:CN230015" MONDO:0017398 "OMIM:248340" +MONDO:0017398 "ICD10CM:Q87.8" MONDO:0017398 "OMIM:257920" MONDO:0017398 "Orphanet:293843" MONDO:0017398 "SCTID:720756005" HP:0001743 "UMLS:C4025749" +MONDO:0018344 "ICD10CM:G72.3" MONDO:0018344 "UMLS:CN226077" MONDO:0018344 "Orphanet:397755" -MONDO:0018344 "ICD10:G72.3" MONDO:0012827 "OMIM:612239" MONDO:0001179 "EFO:1001824" MONDO:0001179 "MESH:D059407" MONDO:0001179 "DOID:11029" MONDO:0001179 "ICD9:372.51" -MONDO:0001179 "ICD10:H11.15" MONDO:0001179 "SCTID:87614000" MONDO:0001179 "UMLS:C0152255" MONDO:0021177 "SCTID:721713007" @@ -113022,13 +110190,13 @@ MONDO:0011423 "SCTID:718850008" MONDO:0011423 "DOID:0110279" MONDO:0011423 "Orphanet:119" MONDO:0011423 "GARD:0003851" -MONDO:0011423 "ICD10:G71.0" +MONDO:0011423 "ICD10CM:G71.0" MONDO:0011423 "UMLS:C2930900" MONDO:0011423 "OMIM:604286" MONDO:0011423 "GARD:0000870" MONDO:0018227 "UMLS:C0343206" +MONDO:0018227 "ICD10CM:M31.8" MONDO:0018227 "GARD:0006725" -MONDO:0018227 "ICD10:M31.8" MONDO:0018227 "Orphanet:36412" MONDO:0018227 "UMLS:CN204757" MONDO:0018227 "SCTID:239945009" @@ -113054,7 +110222,7 @@ MONDO:0013071 "UMLS:C2751807" MONDO:0013071 "OMIM:612998" MONDO:0013071 "Orphanet:98853" MONDO:0017007 "Orphanet:263756" -MONDO:0017007 "ICD10:Q99.8" +MONDO:0017007 "ICD10CM:Q99.8" MONDO:0040678 "NCIT:C39853" MONDO:0040678 "UMLS:C1512751" MONDO:0003913 "NCIT:C35782" @@ -113062,9 +110230,7 @@ MONDO:0003913 "UMLS:C1333025" MONDO:0003913 "DOID:6525" NCBITaxon:1980517 "GC_ID:1" NCBITaxon:1385 "GC_ID:11" -MONDO:0044646 "UMLS:C4310671" -MONDO:0044646 "Orphanet:496641" -MONDO:0044646 "OMIM:617193" +MONDO:0012996 "ICD10CM:E72.8" MONDO:0012996 "ICD9:270.8" MONDO:0012996 "GARD:0010323" MONDO:0012996 "UMLS:C2675179" @@ -113073,27 +110239,29 @@ MONDO:0012996 "SCTID:702440000" MONDO:0012996 "Orphanet:35704" MONDO:0012996 "OMIM:612718" MONDO:0012996 "MESH:C567192" -MONDO:0012996 "ICD10:E72.8" +MONDO:0044646 "UMLS:C4310671" +MONDO:0044646 "Orphanet:496641" +MONDO:0044646 "OMIM:617193" MONDO:0032596 "OMIM:618197" MONDO:0016269 "Orphanet:213731" -MONDO:0016269 "ICD10:C54.3" -MONDO:0016269 "ICD10:C54.0" +MONDO:0016269 "ICD10CM:C54.2" +MONDO:0016269 "ICD10CM:C54.3" +MONDO:0016269 "ICD10CM:C54.0" +MONDO:0016269 "ICD10CM:C54.1" MONDO:0016269 "UMLS:CN201058" -MONDO:0016269 "ICD10:C54.8" -MONDO:0016269 "ICD10:C54.2" -MONDO:0016269 "ICD10:C54.1" +MONDO:0016269 "ICD10CM:C54.8" MONDO:0015015 "OMIM:617308" MONDO:0015015 "DOID:0111067" MONDO:0015015 "UMLS:C4310624" MONDO:0012176 "Orphanet:96170" MONDO:0012176 "MESH:C535733" MONDO:0012176 "UMLS:C1836929" +MONDO:0012176 "ICD10CM:Q92.6" MONDO:0012176 "SCTID:702417004" -MONDO:0012176 "ICD10:Q92.6" MONDO:0012176 "ICD9:758.5" MONDO:0012176 "OMIM:609029" MONDO:0012176 "GARD:0009835" -MONDO:0019645 "ICD10:Q61.4" +MONDO:0019645 "ICD10CM:Q61.4" MONDO:0019645 "HP:0012582" MONDO:0019645 "SCTID:204950001" MONDO:0019645 "Orphanet:93173" @@ -113107,12 +110275,12 @@ MONDO:0018448 "SCTID:734015000" MONDO:0018448 "Orphanet:404511" MONDO:0018448 "UMLS:C4518333" MONDO:0018448 "ONCOTREE:CCPRC" -MONDO:0018448 "ICD10:C64" +MONDO:0018448 "ICD10CM:C64" MONDO:0012419 "OMIM:610149" MONDO:0012419 "MESH:C565718" MONDO:0012419 "DOID:0110019" MONDO:0012419 "UMLS:C1857813" -MONDO:0017519 "ICD10:Q73.8" +MONDO:0017519 "ICD10CM:Q73.8" MONDO:0017519 "UMLS:CN203252" MONDO:0017519 "Orphanet:295136" MONDO:0008969 "GARD:0008500" @@ -113122,14 +110290,14 @@ MONDO:0008969 "UMLS:C0549472" MONDO:0008969 "ICD9:516.8" MONDO:0008969 "MESH:C535937" MONDO:0009915 "UMLS:C1849696" -MONDO:0009915 "ICD10:Q56.2" MONDO:0009915 "MESH:C564869" +MONDO:0009915 "ICD10CM:Q56.2" MONDO:0009915 "Orphanet:2975" MONDO:0009915 "OMIM:264270" MONDO:0016456 "GARD:0012166" MONDO:0016456 "Orphanet:228384" -MONDO:0016456 "ICD10:Q93.5" MONDO:0016456 "SCTID:719661007" +MONDO:0016456 "ICD10CM:Q93.5" MONDO:0016456 "OMIM:613443" MONDO:0013578 "UMLS:C3279839" MONDO:0013578 "Orphanet:464306" @@ -113139,30 +110307,29 @@ MONDO:0041093 "SCTID:232039004" MONDO:0001297 "NCIT:C50481" MONDO:0001297 "EFO:1001285" MONDO:0001297 "ICD9:423.3" -MONDO:0001297 "ICD10:I31.4" MONDO:0001297 "DOID:115" +MONDO:0001297 "ICD10CM:I31.4" MONDO:0001297 "SCTID:35304003" MONDO:0001297 "MESH:D002305" MONDO:0001297 "UMLS:C0007177" MONDO:0019832 "Orphanet:95502" -MONDO:0019832 "ICD10:E23.0" +MONDO:0019832 "ICD10CM:E23.0" NCBITaxon:81852 "GC_ID:11" MONDO:0014520 "Orphanet:444048" MONDO:0014520 "UMLS:C4015409" MONDO:0014520 "OMIM:616185" MONDO:0014520 "DOID:0080496" -MONDO:0014520 "ICD10:Q96.8" -MONDO:0018635 "ICD10:M89.5" +MONDO:0014520 "ICD10CM:Q96.8" +MONDO:0018635 "ICD10CM:M89.5" MONDO:0018635 "Orphanet:444316" MONDO:0035357 "Orphanet:596937" -MONDO:0035357 "ICD10:K76.8" +MONDO:0035357 "ICD10CM:K76.8" MONDO:0017177 "UMLS:CN202613" -MONDO:0017177 "ICD10:Q87.3" MONDO:0017177 "Orphanet:276280" +MONDO:0017177 "ICD10CM:Q87.3" MONDO:0018123 "UMLS:CN204496" +MONDO:0018123 "ICD10CM:Q04.8" MONDO:0018123 "Orphanet:352530" -MONDO:0018123 "ICD10:Q04.8" -MONDO:0017834 "ICD10:D47.5" MONDO:0017834 "UMLS:CN203809" MONDO:0017834 "Orphanet:314962" MONDO:0020127 "Orphanet:98497" @@ -113171,14 +110338,14 @@ MONDO:0010238 "MESH:C564723" MONDO:0010238 "UMLS:C1848204" MONDO:0010238 "Orphanet:90625" MONDO:0010238 "DOID:0111735" -MONDO:0009000 "ICD10:L87.1" MONDO:0009000 "UMLS:C1857624" MONDO:0009000 "MESH:C565687" +MONDO:0009000 "ICD10CM:L87.1" MONDO:0009000 "OMIM:216700" MONDO:0009000 "GARD:0013331" MONDO:0009000 "Orphanet:79147" MONDO:0020303 "Orphanet:98795" -MONDO:0020303 "ICD10:Q93.5" +MONDO:0020303 "ICD10CM:Q93.5" MONDO:0020303 "UMLS:CN207117" MONDO:0004486 "DOID:8177" MONDO:0004486 "UMLS:C1516405" @@ -113200,17 +110367,17 @@ MONDO:0010648 "MESH:C564108" MONDO:0010648 "OMIM:309200" MONDO:0010648 "DOID:0080221" MONDO:0019949 "ICD9:359.89" -MONDO:0019949 "ICD10:G71.2" MONDO:0019949 "SCTID:34513009" MONDO:0019949 "Orphanet:97240" +MONDO:0019949 "ICD10CM:G71.2" MONDO:0019949 "UMLS:C0270969" MONDO:0017905 "OMIM:300636" MONDO:0017905 "UMLS:C4304413" MONDO:0017905 "Orphanet:319605" -MONDO:0017905 "ICD10:D84.8" MONDO:0017905 "UMLS:CN203967" MONDO:0017905 "OMIM:300645" MONDO:0017905 "SCTID:719814009" +MONDO:0017905 "ICD10CM:D84.8" MONDO:0014065 "Orphanet:1460" MONDO:0014065 "OMIM:615159" MONDO:0014065 "UMLS:C3554607" @@ -113233,7 +110400,6 @@ MONDO:0004673 "DOID:8883" MONDO:0004673 "UMLS:C0432520" MONDO:0004673 "ICD9:140.1" MONDO:0004673 "SCTID:363373004" -MONDO:0004673 "ICD10:C00.1" MONDO:0043479 "MESH:D000257" MONDO:0043479 "SCTID:25225006" MONDO:0043479 "NCIT:C115149" @@ -113244,9 +110410,8 @@ HP:0003111 "UMLS:C1704431" MONDO:0032830 "OMIM:618604" MONDO:0016048 "SCTID:722008003" MONDO:0016048 "Orphanet:199326" -MONDO:0016048 "ICD10:E83.4" +MONDO:0016048 "ICD10CM:E83.4" MONDO:0016048 "UMLS:CN200728" -MONDO:0015420 "ICD10:Q36.1" MONDO:0015420 "OMIM:602966" MONDO:0015420 "ICD9:525.8" MONDO:0015420 "SCTID:373643003" @@ -113254,13 +110419,14 @@ MONDO:0015420 "OMIM:119530" MONDO:0015420 "OMIM:612858" MONDO:0015420 "OMIM:600757" MONDO:0015420 "OMIM:129400" +MONDO:0015420 "ICD10CM:Q36.0" +MONDO:0015420 "ICD10CM:Q36.9" MONDO:0015420 "OMIM:608874" MONDO:0015420 "Orphanet:141291" +MONDO:0015420 "ICD10CM:Q36.1" MONDO:0015420 "OMIM:608371" MONDO:0015420 "OMIM:610361" -MONDO:0015420 "ICD10:Q36.9" MONDO:0015420 "OMIM:225060" -MONDO:0015420 "ICD10:Q36.0" HP:0000834 "UMLS:C4021794" HP:0000834 "MSH:D000307" HP:0000834 "SNOMEDCT_US:30171000" @@ -113268,19 +110434,19 @@ HP:0000834 "UMLS:C0001621" MONDO:0008444 "OMIM:182830" MONDO:0008444 "MESH:C566679" MONDO:0008444 "UMLS:C1866849" -MONDO:0019162 "OMIM:614491" MONDO:0019162 "UMLS:C1449844" -MONDO:0019162 "OMIMPS:145260" -MONDO:0019162 "OMIM:614492" MONDO:0019162 "OMIM:614495" MONDO:0019162 "NCIT:C123252" -MONDO:0019162 "OMIM:614496" -MONDO:0019162 "ICD10:I15.1" -MONDO:0019162 "ICD9:588.89" -MONDO:0019162 "OMIM:145260" MONDO:0019162 "Orphanet:757" MONDO:0019162 "GARD:0004553" +MONDO:0019162 "OMIM:614496" +MONDO:0019162 "OMIMPS:145260" MONDO:0019162 "SCTID:15689008" +MONDO:0019162 "OMIM:614491" +MONDO:0019162 "ICD9:588.89" +MONDO:0019162 "OMIM:145260" +MONDO:0019162 "OMIM:614492" +MONDO:0019162 "ICD10CM:I15.1" MONDO:0043207 "UMLS:C0265363" MONDO:0043207 "MESH:C536477" MONDO:0043207 "GARD:0005428" @@ -113295,14 +110461,12 @@ MONDO:0007247 "Orphanet:51" MONDO:0007247 "UMLS:C1861967" MONDO:0007247 "MESH:C536276" MONDO:0006032 "UMLS:C0010692" -MONDO:0006032 "ICD10:N30.9" MONDO:0006032 "EFO:1000025" MONDO:0006032 "MESH:D003556" MONDO:0006032 "ICD9:595.9" MONDO:0006032 "ICD9:595" -MONDO:0006032 "ICD9:595.89" MONDO:0006032 "DOID:1679" -MONDO:0006032 "ICD10:N30" +MONDO:0006032 "ICD9:595.89" MONDO:0006032 "SCTID:38822007" MONDO:0006032 "NCIT:C26738" MONDO:0044083 "SCTID:238436005" @@ -113321,11 +110485,11 @@ MONDO:0014286 "UMLS:C3810194" NCBITaxon:4890 "GC_ID:1" NCBITaxon:4890 "PMID:17572334" MONDO:0018637 "OMIM:615947" +MONDO:0018637 "ICD10CM:E78.3" MONDO:0018637 "UMLS:CN231410" MONDO:0018637 "Orphanet:444490" MONDO:0018637 "OMIM:118830" MONDO:0018637 "DOID:0111417" -MONDO:0018637 "ICD10:E78.3" MONDO:0018637 "OMIM:238600" MONDO:0018637 "OMIM:207750" MONDO:0013409 "UMLS:C3151063" @@ -113336,8 +110500,8 @@ MONDO:0003915 "UMLS:C1266095" MONDO:0003915 "DOID:6530" MONDO:0003915 "ICDO:8584/1" NCBITaxon:36596 "GC_ID:1" -MONDO:0019541 "ICD10:H30.1" -MONDO:0019541 "ICD10:H30.0" +MONDO:0019541 "ICD10CM:H30.1" +MONDO:0019541 "ICD10CM:H30.0" MONDO:0019541 "Orphanet:90061" MONDO:0014923 "UMLS:C4310710" MONDO:0014923 "OMIM:617115" @@ -113346,30 +110510,30 @@ MONDO:0009885 "DOID:0111052" MONDO:0009885 "UMLS:C0796149" MONDO:0009885 "SCTID:128098009" MONDO:0009885 "MESH:C563120" +MONDO:0009885 "ICD10CM:D69.8" MONDO:0009885 "GARD:0004777" -MONDO:0009885 "ICD10:D69.8" MONDO:0009885 "OMIM:262890" MONDO:0044648 "Orphanet:496689" FOODON:03420165 http://www.langual.org/langual_thesaurus.asp?termid=C0165 MONDO:0001531 "MESH:D001778" MONDO:0001531 "ICD9:286" MONDO:0001531 "ICD9:287.8" +MONDO:0001531 "ICD10CM:D65-D69" MONDO:0001531 "ICD9:286.9" MONDO:0001531 "SCTID:64779008" MONDO:0001531 "DOID:1247" -MONDO:0001531 "ICD10:D68.9" MONDO:0001531 "NCIT:C2902" MONDO:0000975 "UMLS:C0153972" MONDO:0000975 "NCIT:C3606" MONDO:0000975 "ICD9:214.4" MONDO:0000975 "DOID:10206" MONDO:0000975 "SCTID:93162007" +MONDO:0007434 "ICD10CM:K00.8" MONDO:0007434 "OMIM:125350" MONDO:0007434 "Orphanet:412206" MONDO:0007434 "DOID:0111341" MONDO:0007434 "MESH:C565114" MONDO:0007434 "UMLS:C1852222" -MONDO:0007434 "ICD10:K00.8" MONDO:0014473 "OMIM:616051" MONDO:0014473 "UMLS:C4015080" MONDO:0014473 "DOID:0070283" @@ -113380,7 +110544,7 @@ MONDO:0018093 "Orphanet:344" NCBITaxon:33256 "GC_ID:1" MONDO:0019424 "UMLS:CN227631" MONDO:0019424 "Orphanet:85327" -MONDO:0019424 "ICD10:Q87.8" +MONDO:0019424 "ICD10CM:Q87.8" MONDO:0011228 "MESH:C566543" MONDO:0011228 "UMLS:C1865360" MONDO:0011228 "OMIM:602472" @@ -113398,10 +110562,10 @@ MONDO:0004265 "NCIT:C27022" MONDO:0005476 "EFO:0005305" MONDO:0028737 "Orphanet:498345" MONDO:0028737 "HP:0005912" +MONDO:0008852 "ICD10CM:G47.3" MONDO:0008852 "MedDRA:10007982" MONDO:0008852 "OMIM:209880" MONDO:0008852 "MedDRA:10066131" -MONDO:0008852 "ICD10:G47.3" MONDO:0008852 "GARD:0008535" MONDO:0008852 "DOID:0060731" MONDO:0008852 "UMLS:C1275808" @@ -113413,8 +110577,8 @@ MONDO:0033007 "DOID:0080245" MONDO:0033007 "OMIM:617729" MONDO:0033007 "UMLS:CN570505" MONDO:0033007 "Orphanet:2065" -MONDO:0020062 "ICD10:Q99.8" MONDO:0020062 "Orphanet:98159" +MONDO:0020062 "ICD10CM:Q99.8" MONDO:0000294 "UMLS:C0277108" MONDO:0000294 "SCTID:85750001" MONDO:0000294 "UMLS:C0277110" @@ -113428,37 +110592,36 @@ MONDO:0001240 "UMLS:C0002891" MONDO:0001240 "MESH:D000751" MONDO:0012669 "GARD:0010714" MONDO:0012669 "Orphanet:137605" +MONDO:0012669 "ICD10CM:Q85.0" MONDO:0012669 "MESH:C548032" MONDO:0012669 "ICD9:709.09" -MONDO:0012669 "ICD10:Q85.0" MONDO:0012669 "OMIM:611431" MONDO:0012669 "SCTID:703541007" MONDO:0012669 "UMLS:C1969623" -MONDO:0013743 "ICD10:M32.8" MONDO:0013743 "Orphanet:300345" +MONDO:0013743 "ICD10CM:M32.8" MONDO:0013743 "OMIM:614420" MONDO:0013743 "UMLS:C3280742" MONDO:0035136 "Orphanet:590539" MONDO:0020129 "UMLS:CN207019" MONDO:0020129 "Orphanet:98506" MONDO:0020305 "Orphanet:98798" -MONDO:0020305 "ICD10:Q98.6" +MONDO:0020305 "ICD10CM:Q98.6" MONDO:0017038 "Orphanet:264973" MONDO:0017038 "UMLS:CN202349" MONDO:0008223 "UMLS:C0238357" -MONDO:0008223 "GARD:0006729" -MONDO:0008223 "DOID:14452" -MONDO:0008223 "ICD10:G72.3" -MONDO:0008223 "NCIT:C84775" -MONDO:0008223 "SCTID:82732003" +MONDO:0008223 "MESH:D020514" +MONDO:0008223 "ICD10CM:G72.3" MONDO:0008223 "OMIM:613345" MONDO:0008223 "Orphanet:681" -MONDO:0008223 "OMIM:170400" -MONDO:0008223 "MESH:D020514" +MONDO:0008223 "GARD:0006729" MONDO:0008223 "UMLS:C0238358" +MONDO:0008223 "OMIM:170400" +MONDO:0008223 "SCTID:82732003" +MONDO:0008223 "NCIT:C84775" +MONDO:0008223 "DOID:14452" MONDO:0015726 "UMLS:CN036934" MONDO:0015726 "Orphanet:1705" -MONDO:0015726 "ICD10:Q92.3" MONDO:0015726 "MESH:C538034" MONDO:0003896 "UMLS:C1332619" MONDO:0003896 "NCIT:C5210" @@ -113467,10 +110630,10 @@ MONDO:0043199 "GARD:0004823" MONDO:0043199 "UMLS:C2931544" MONDO:0043199 "MESH:C537597" MONDO:0001123 "NCIT:C34480" -MONDO:0001123 "ICD10:J32.3" MONDO:0001123 "DOID:10793" MONDO:0001123 "SCTID:38961000" MONDO:0001123 "ICD9:473.3" +MONDO:0001123 "ICD10CM:J32.3" MONDO:0001123 "UMLS:C0008712" MONDO:0002681 "UMLS:C0085138" MONDO:0002681 "NCIT:C4533" @@ -113493,7 +110656,6 @@ MONDO:0044141 "EFO:1001906" MONDO:0044141 "NCIT:C97193" MONDO:0044141 "SCTID:56576003" MONDO:0017907 "UMLS:CN203974" -MONDO:0017907 "ICD10:C85.7" MONDO:0017907 "SCTID:763477007" MONDO:0017907 "Orphanet:319667" MONDO:0015655 "Orphanet:166478" @@ -113521,8 +110683,8 @@ MONDO:0016330 "UMLS:CN226903" MONDO:0009664 "GARD:0000095" MONDO:0009664 "SCTID:81604003" MONDO:0009664 "NCIT:C84906" -MONDO:0009664 "ICD10:Q87.1" MONDO:0009664 "MESH:D050336" +MONDO:0009664 "ICD10CM:Q87.1" MONDO:0009664 "OMIM:253250" MONDO:0009664 "UMLS:C2931895" MONDO:0009664 "Orphanet:2576" @@ -113537,12 +110699,11 @@ MONDO:0015913 "Orphanet:182054" MONDO:0005068 "UMLS:C0027051" MONDO:0005068 "OMIM:608557" MONDO:0005068 "OMIM:608446" -MONDO:0005068 "ICD10:I21" -MONDO:0005068 "ICD10:I22" MONDO:0005068 "HP:0001658" MONDO:0005068 "DOID:5844" MONDO:0005068 "SCTID:22298006" MONDO:0005068 "EFO:0000612" +MONDO:0005068 "ICD10CM:I21" MONDO:0005068 "NCIT:C27996" MONDO:0005068 "MESH:D009203" MONDO:0021500 "UMLS:C0686615" @@ -113555,22 +110716,21 @@ MONDO:0011972 "OMIM:608115" MONDO:0011972 "SCTID:129635004" MONDO:0011972 "Orphanet:64739" MONDO:0011972 "MESH:D016471" -MONDO:0011972 "ICD10:N98.1" MONDO:0011972 "UMLS:C0085083" MONDO:0011972 "ICD9:256.1" MONDO:0100102 "OMIM:618388" MONDO:0100102 "DOID:0111378" MONDO:0001736 "SCTID:3468005" -MONDO:0001736 "ICD10:P39.0" +MONDO:0001736 "ICD10CM:P39.0" MONDO:0001736 "UMLS:C0158948" MONDO:0001736 "ICD9:771.5" MONDO:0001736 "DOID:13520" MONDO:0017771 "OMIM:277000" MONDO:0017771 "Orphanet:3109" -MONDO:0017771 "ICD10:Q51.8" MONDO:0017771 "OMIM:601076" MONDO:0017771 "NCIT:C124853" MONDO:0017771 "MedDRA:10065148" +MONDO:0017771 "ICD10CM:Q51.8" CL:1000838 "KUPO:0001045" MONDO:0022765 "GARD:0001352" MONDO:0005255 "Wikipedia:New_York_Heart_Association_Functional_Classification" @@ -113604,8 +110764,8 @@ MONDO:0000754 "MESH:D012003" MONDO:0000754 "HP:0010447" MONDO:0000754 "SCTID:72779005" MONDO:0000754 "Orphanet:228113" -MONDO:0000754 "ICD10:K60.3" MONDO:0000754 "NCIT:C60785" +MONDO:0000754 "ICD10CM:K60.3" MONDO:0013522 "Orphanet:1775" MONDO:0013522 "UMLS:C3151445" MONDO:0013522 "Orphanet:3322" @@ -113618,29 +110778,29 @@ MONDO:0006696 "DOID:3456" MONDO:0006696 "UMLS:C0007869" MONDO:0006696 "MedDRA:10015128" MONDO:0021494 "NCIT:C4770" +MONDO:0021494 "ICD10CM:D11.0" MONDO:0021494 "SCTID:92279000" MONDO:0021494 "UMLS:C0496857" -MONDO:0021494 "ICD10:D11.0" -MONDO:0017404 "ICD10:Q99.8" +MONDO:0017404 "ICD10CM:Q99.8" MONDO:0017404 "UMLS:CN203151" MONDO:0017404 "Orphanet:293939" MONDO:0004525 "ICD9:133.0" MONDO:0004525 "UMLS:C0036262" MONDO:0004525 "DOID:8295" MONDO:0004525 "MESH:D012532" +MONDO:0004525 "ICD10CM:B86" MONDO:0004525 "NCIT:C34998" MONDO:0004525 "SCTID:128869009" -MONDO:0004525 "ICD10:B86" MONDO:0020297 "MESH:C537846" MONDO:0020297 "UMLS:CN166718" MONDO:0020297 "Orphanet:98733" -MONDO:0007924 "ICD10:Q87.8" MONDO:0007924 "Orphanet:109" MONDO:0007924 "ICD9:759.6" MONDO:0007924 "OMIM:153480" MONDO:0007924 "SCTID:21984008" MONDO:0007924 "NCIT:C3939" MONDO:0007924 "DOID:0050657" +MONDO:0007924 "ICD10CM:Q87.8" MONDO:0007924 "UMLS:C0265326" MONDO:0007924 "GARD:0005887" MONDO:0032917 "OMIM:618787" @@ -113656,31 +110816,26 @@ MONDO:0012120 "Orphanet:79246" MONDO:0012120 "MESH:C536258" MONDO:0012120 "Orphanet:765" MONDO:0012120 "GARD:0009888" -MONDO:0012120 "ICD10:E74.4" MONDO:0012120 "UMLS:C1837429" +MONDO:0012120 "ICD10CM:E74.4" MONDO:0011564 "DOID:0111014" MONDO:0011564 "MESH:C565322" MONDO:0011564 "UMLS:C1854180" MONDO:0011564 "OMIM:605549" MONDO:0002113 "SCTID:447781009" MONDO:0002113 "DOID:1791" -MONDO:0020555 "ICD10:C34.1" -MONDO:0020555 "ICD10:C34.8" MONDO:0020555 "NCIT:C45626" -MONDO:0020555 "ICD10:C34.2" -MONDO:0020555 "ICD10:C34.9" -MONDO:0020555 "SCTID:707671008" MONDO:0020555 "Orphanet:99933" +MONDO:0020555 "SCTID:707671008" MONDO:0020555 "UMLS:CN207457" MONDO:0020555 "ICD9:162.9" -MONDO:0020555 "ICD10:C34.3" MONDO:0008016 "UMLS:C0265226" -MONDO:0008016 "ICD10:Q68.8" MONDO:0008016 "OMIM:158300" MONDO:0008016 "ICD9:759.89" MONDO:0008016 "GARD:0002621" MONDO:0008016 "MESH:C535857" MONDO:0008016 "SCTID:8757006" +MONDO:0008016 "ICD10CM:Q68.8" MONDO:0008016 "Orphanet:3377" MONDO:0033009 "DOID:0080247" MONDO:0033009 "OMIM:617731" @@ -113688,30 +110843,29 @@ MONDO:0033009 "Orphanet:2065" MONDO:0033009 "UMLS:CN570507" MONDO:0006704 "MESH:D020278" MONDO:0006704 "EFO:1000870" -MONDO:0017899 "ICD10:D84.8" +MONDO:0017899 "ICD10CM:D84.8" MONDO:0017899 "UMLS:CN203955" MONDO:0017899 "Orphanet:319543" MONDO:0016645 "Orphanet:250908" MONDO:0016645 "UMLS:CN201870" +MONDO:0015622 "ICD10CM:B87.1" MONDO:0015622 "SCTID:240880004" -MONDO:0015622 "ICD10:B87.1" MONDO:0015622 "UMLS:C0344061" MONDO:0015622 "Orphanet:165955" MONDO:0015622 "ICD9:998.89" MONDO:0007278 "Orphanet:91492" MONDO:0007278 "Orphanet:98988" MONDO:0007278 "DOID:0110227" -MONDO:0007278 "ICD10:Q12.0" MONDO:0007278 "OMIM:115650" MONDO:0007278 "Orphanet:98993" +MONDO:0018845 "ICD10CM:M60.8" MONDO:0018845 "Orphanet:48918" MONDO:0018845 "ICD9:729.1" -MONDO:0018845 "ICD10:M60.8" MONDO:0018845 "SCTID:240119009" MONDO:0005966 "MESH:D013160" MONDO:0005966 "EFO:0007491" MONDO:0005966 "NCIT:C3539" -MONDO:0005966 "ICD10:C26.1" +MONDO:0005966 "ICD10CM:C26.1" MONDO:0005966 "DOID:672" MONDO:0005966 "SCTID:127230005" MONDO:0004712 "NCIT:C35620" @@ -113719,7 +110873,7 @@ MONDO:0004712 "ICD9:054.41" MONDO:0004712 "UMLS:C0854331" MONDO:0004712 "MESH:D007617" MONDO:0004712 "SCTID:186535001" -MONDO:0004712 "ICD10:B00.0" +MONDO:0004712 "ICD10CM:B00.0" MONDO:0004712 "ICD9:054.0" MONDO:0004712 "DOID:9123" MONDO:0003686 "DOID:5876" @@ -113728,8 +110882,8 @@ MONDO:0003686 "NCIT:C6798" MONDO:0003515 "DOID:5564" MONDO:0003515 "UMLS:C1517127" MONDO:0003515 "NCIT:C40131" +MONDO:0011094 "ICD10CM:I42.0" MONDO:0011094 "Orphanet:154" -MONDO:0011094 "ICD10:I42.0" MONDO:0011094 "MESH:C563307" MONDO:0011094 "Orphanet:54260" MONDO:0011094 "OMIM:601493" @@ -113741,14 +110895,12 @@ MONDO:0011751 "OMIM:606963" MONDO:0012834 "OMIM:612251" MONDO:0015728 "MESH:C538036" MONDO:0015728 "Orphanet:1707" -MONDO:0015728 "ICD10:Q92.3" MONDO:0024255 "MESH:D012873" MONDO:0024255 "SCTID:239001006" MONDO:0015505 "Orphanet:156252" MONDO:0006570 "ICD9:697" MONDO:0006570 "EFO:1000724" MONDO:0006570 "ICD9:697.9" -MONDO:0006570 "ICD10:L28.0" MONDO:0006570 "SCTID:88996004" MONDO:0006570 "ICD9:697.8" MONDO:0006570 "UMLS:C0023643" @@ -113756,17 +110908,17 @@ MONDO:0006570 "DOID:8574" MONDO:0000346 "DOID:0050522" MONDO:0001557 "DOID:12581" MONDO:0001557 "UMLS:C0263962" -MONDO:0001557 "ICD10:M70.2" MONDO:0001557 "UMLS:C3887895" +MONDO:0001557 "ICD10CM:M70.2" MONDO:0001557 "ICD9:726.33" MONDO:0001557 "SCTID:425940002" MONDO:0017203 "MedDRA:10008864" MONDO:0017203 "UMLS:C0154774" +MONDO:0017203 "ICD10CM:H44.0" +MONDO:0017203 "ICD10CM:H44.1" MONDO:0017203 "ICD9:360.03" MONDO:0017203 "SCTID:13978000" MONDO:0017203 "Orphanet:279891" -MONDO:0017203 "ICD10:H44.0" -MONDO:0017203 "ICD10:H44.1" MONDO:0017203 "DOID:10697" MONDO:0043364 "SCTID:711160007" MONDO:0043364 "OMIM:261500" @@ -113780,7 +110932,7 @@ MONDO:0004933 "DOID:9955" MONDO:0004933 "OMIM:241550" MONDO:0004933 "MESH:D018636" MONDO:0004933 "Orphanet:2248" -MONDO:0004933 "ICD10:Q23.4" +MONDO:0004933 "ICD10CM:Q23.4" MONDO:0004933 "SCTID:62067003" MONDO:0004933 "GARD:0006739" MONDO:0004933 "MedDRA:10021076" @@ -113801,7 +110953,7 @@ MONDO:0018690 "DOID:11549" MONDO:0018690 "OMIM:103100" MONDO:0018690 "NCIT:C34357" MONDO:0018690 "GARD:0005749" -MONDO:0018690 "ICD10:H57.0" +MONDO:0018690 "ICD10CM:H57.0" MONDO:0018690 "EFO:0004126" MONDO:0018690 "SCTID:24225004" MONDO:0030366 "OMIM:619492" @@ -113809,12 +110961,12 @@ MONDO:0002998 "UMLS:C1335976" MONDO:0002998 "DOID:4437" MONDO:0002998 "NCIT:C5272" MONDO:0020806 "SCTID:65778007" -MONDO:0014512 "ICD10:G40.4" MONDO:0014512 "DOID:0070061" MONDO:0014512 "UMLS:C4015357" MONDO:0014512 "UMLS:CN237609" MONDO:0014512 "OMIM:616158" MONDO:0014512 "Orphanet:438216" +MONDO:0014512 "ICD10CM:G40.4" MONDO:0004159 "DOID:7237" MONDO:0004159 "UMLS:C1518874" MONDO:0004159 "NCIT:C41245" @@ -113839,24 +110991,22 @@ MONDO:0004304 "UMLS:C0279701" MONDO:0019637 "Orphanet:93101" MONDO:0019637 "DOID:0080204" MONDO:0019637 "HP:0000089" -MONDO:0019637 "ICD10:Q60.4" -MONDO:0019637 "ICD10:Q60.5" -MONDO:0019637 "ICD10:Q60.3" MONDO:0019637 "MedDRA:10049102" +MONDO:0019637 "ICD10CM:Q60.4" +MONDO:0019637 "ICD10CM:Q60.3" MONDO:0019637 "SCTID:32659003" MONDO:0017550 "Orphanet:295209" -MONDO:0017550 "ICD10:Q74.0" +MONDO:0017550 "ICD10CM:Q74.0" MONDO:0030553 "OMIM:619636" MONDO:0003107 "DOID:4706" MONDO:0003107 "UMLS:C0751593" -MONDO:0003107 "ICD10:C71.7" MONDO:0003107 "MESH:D015192" MONDO:0003107 "NCIT:C4966" MONDO:0009183 "DOID:0060733" MONDO:0009183 "OMIM:226730" +MONDO:0009183 "ICD10CM:Q81.8" MONDO:0009183 "GARD:0009694" MONDO:0009183 "UMLS:C1856934" -MONDO:0009183 "ICD10:Q81.8" MONDO:0009183 "MESH:C535377" MONDO:0009183 "Orphanet:79403" MONDO:0002044 "SCTID:80846000" @@ -113866,15 +111016,14 @@ MONDO:0002044 "ICD9:374.13" MONDO:0024663 "UMLS:C1335481" MONDO:0024663 "NCIT:C5277" MONDO:0013110 "SCTID:711403001" +MONDO:0013110 "ICD10CM:G31.8" MONDO:0013110 "OMIM:613068" MONDO:0013110 "MESH:C567791" MONDO:0013110 "Orphanet:217382" -MONDO:0013110 "ICD10:G31.8" MONDO:0013110 "ICD9:266.2" MONDO:0013110 "DOID:0050719" MONDO:0013110 "GARD:0010594" MONDO:0005420 "EFO:0004705" -MONDO:0005420 "ICD10:E03.9" MONDO:0005420 "NCIT:C26800" MONDO:0005420 "ICD9:244.9" MONDO:0005420 "SCTID:40930008" @@ -113886,11 +111035,11 @@ MONDO:0002369 "MESH:D003537" MONDO:0002369 "UMLS:C0010633" MONDO:0002369 "DOID:2634" MONDO:0007620 "SCTID:238092004" -MONDO:0007620 "ICD10:E78.6" MONDO:0007620 "Orphanet:79292" MONDO:0007620 "GARD:0006450" MONDO:0007620 "Orphanet:650" MONDO:0007620 "OMIM:136120" +MONDO:0007620 "ICD10CM:E78.6" MONDO:0007620 "UMLS:C0342895" CL:0000617 "WBbt:0005190" CL:0000617 "FMA:84788" @@ -113898,8 +111047,8 @@ MONDO:0005745 "EFO:0007253" MONDO:0005745 "MESH:D017189" MONDO:0015592 "SCTID:763794005" MONDO:0015592 "Orphanet:163908" -MONDO:0015592 "ICD10:G13.1" -MONDO:0015592 "ICD10:G04.8" +MONDO:0015592 "ICD10CM:G13.1" +MONDO:0015592 "ICD10CM:G04.8" HP:0012824 "UMLS:C0522510" HP:0012824 "SNOMEDCT_US:103370009" MONDO:0001149 "HP:0000252" @@ -113907,7 +111056,6 @@ MONDO:0001149 "ICD9:742.1" MONDO:0001149 "OMIM:251200" MONDO:0001149 "SCTID:1829003" MONDO:0001149 "NCIT:C85874" -MONDO:0001149 "ICD10:Q02" MONDO:0001149 "OMIM:608393" MONDO:0001149 "OMIM:604804" MONDO:0001149 "OMIM:608716" @@ -113915,10 +111063,11 @@ MONDO:0001149 "OMIM:604321" MONDO:0001149 "DOID:10907" MONDO:0001149 "OMIM:612703" MONDO:0001149 "GARD:0003603" -MONDO:0004682 "ICD10:C06.2" MONDO:0004682 "SCTID:363391009" MONDO:0004682 "ICD9:145.6" +MONDO:0004682 "ICD10CM:C06.2" MONDO:0004682 "DOID:8930" +MONDO:0021147 "ICD10CM:Q00-Q99" MONDO:0024546 "OMIM:259100" MONDO:0024546 "Orphanet:1525" MONDO:0024546 "UMLS:C0029411" @@ -113928,7 +111077,7 @@ MONDO:0009370 "DOID:0050574" MONDO:0009370 "UMLS:C1855995" MONDO:0009370 "UMLS:C3888081" MONDO:0009370 "OMIM:236792" -MONDO:0009370 "ICD10:E72.8" +MONDO:0009370 "ICD10CM:E72.8" MONDO:0009370 "Orphanet:79314" MONDO:0009370 "GARD:0010472" MONDO:0001409 "UMLS:C0149882" @@ -113936,19 +111085,16 @@ MONDO:0001409 "MESH:D004941" MONDO:0001409 "HP:0100633" MONDO:0001409 "ICD9:530.12" MONDO:0001409 "ICD9:530.10" -MONDO:0001409 "ICD10:K20" MONDO:0001409 "ICD9:530.1" MONDO:0001409 "SCTID:16761005" MONDO:0001409 "NCIT:C9224" -MONDO:0001409 "ICD10:K20.9" MONDO:0001409 "DOID:11963" MONDO:0001409 "UMLS:C0014868" -MONDO:0019132 "ICD10:G12.8" +MONDO:0019132 "ICD10CM:G12.8" MONDO:0019132 "UMLS:CN205656" MONDO:0019132 "Orphanet:73245" MONDO:0006861 "MedDRA:10028562" MONDO:0006861 "NCIT:C3520" -MONDO:0006861 "ICD10:C92.30" MONDO:0006861 "ICD9:205.3" MONDO:0006861 "GARD:0012763" MONDO:0006861 "Orphanet:86850" @@ -113958,12 +111104,12 @@ MONDO:0006861 "NCIT:C35815" MONDO:0006861 "ONCOTREE:MS" MONDO:0006861 "MESH:D023981" MONDO:0006861 "DOID:8683" -MONDO:0006861 "ICD10:C92.3" +MONDO:0006861 "ICD10CM:C92.3" MONDO:0021355 "NCIT:C3028" MONDO:0021355 "SCTID:126817006" MONDO:0021355 "UMLS:C0014859" +MONDO:0018282 "ICD10CM:G71.2" MONDO:0018282 "Orphanet:371024" -MONDO:0018282 "ICD10:G71.2" MONDO:0005099 "SCTID:21454007" MONDO:0005099 "EFO:0000713" MONDO:0005099 "UMLS:C0038525" @@ -113971,31 +111117,24 @@ MONDO:0005099 "ICD9:430" MONDO:0005099 "HP:0002138" MONDO:0005099 "MESH:D013345" MONDO:0005099 "NCIT:C50757" -MONDO:0020557 "ICD10:C34.9" -MONDO:0020557 "ICD10:C34.3" -MONDO:0020557 "ICD10:C34.2" -MONDO:0020557 "ICD10:C34.8" -MONDO:0020557 "ICD10:C34.1" -MONDO:0020557 "SCTID:707673006" -MONDO:0020557 "Orphanet:99935" -MONDO:0020557 "NCIT:C45628" -MONDO:0020557 "ICD9:162.9" -MONDO:0020557 "UMLS:CN207459" MONDO:0006173 "SCTID:255003007" MONDO:0006173 "NCIT:C4549" MONDO:0006173 "EFO:1000206" MONDO:0006173 "UMLS:C0346359" MONDO:0006173 "DOID:1748" +MONDO:0020557 "SCTID:707673006" +MONDO:0020557 "Orphanet:99935" +MONDO:0020557 "NCIT:C45628" +MONDO:0020557 "ICD9:162.9" +MONDO:0020557 "UMLS:CN207459" NCBITaxon:943 "GC_ID:11" NCBITaxon:943 "PMID:11414267" NCBITaxon:943 "PMID:11760958" -MONDO:0006002 "ICD10:A18.10" MONDO:0006002 "UMLS:C0041333" MONDO:0006002 "SCTID:4445009" MONDO:0006002 "MESH:D014401" MONDO:0006002 "ICD9:016.9" MONDO:0006002 "ICD9:016" -MONDO:0006002 "ICD10:A18.1" MONDO:0006002 "ICD9:016.90" MONDO:0006002 "EFO:0007531" MONDO:0006002 "ICD9:016.92" @@ -114003,12 +111142,11 @@ MONDO:0006002 "DOID:2149" MONDO:0020158 "UMLS:CN227803" MONDO:0020158 "Orphanet:98567" MONDO:0001336 "NCIT:C34707" -MONDO:0001336 "ICD10:E78.5" MONDO:0001336 "DOID:1168" CL:1001607 "CALOHA:TS-0056" +MONDO:0013041 "ICD10CM:D58.8" MONDO:0013041 "Orphanet:2134" MONDO:0013041 "OMIM:612923" -MONDO:0013041 "ICD10:D58.8" MONDO:0013041 "Orphanet:93580" MONDO:0043143 "MESH:C536513" MONDO:0043143 "GARD:0003650" @@ -114016,47 +111154,47 @@ MONDO:0043143 "Orphanet:2547" MONDO:0043143 "UMLS:C2931224" MONDO:0010655 "MESH:C537724" MONDO:0010655 "Orphanet:776" +MONDO:0010655 "ICD10CM:Q87.8" MONDO:0010655 "OMIM:309520" -MONDO:0010655 "ICD10:Q87.8" MONDO:0010655 "SCTID:422437002" MONDO:0010655 "OMIM:300676" MONDO:0010655 "GARD:0003307" MONDO:0011601 "UMLS:C1853942" MONDO:0011601 "GARD:0010214" MONDO:0011601 "OMIM:605814" +MONDO:0011601 "ICD10CM:E72.2" MONDO:0011601 "UMLS:C4274030" MONDO:0011601 "MESH:C536398" MONDO:0011601 "SCTID:717155003" -MONDO:0011601 "ICD10:E72.2" MONDO:0011601 "Orphanet:247598" -MONDO:0000598 "ICD10:R47.01" +MONDO:0000598 "ICD10CM:R47.01" MONDO:0000598 "DOID:0060046" MONDO:0004391 "DOID:7902" MONDO:0009487 "OMIM:244510" MONDO:0009487 "UMLS:C1855647" MONDO:0009487 "MESH:C565456" MONDO:0012836 "OMIM:612254" -MONDO:0009877 "Orphanet:633" -MONDO:0009877 "UMLS:C0271568" -MONDO:0009877 "SCTID:38196001" MONDO:0009877 "GARD:0006859" -MONDO:0009877 "MESH:D046150" -MONDO:0009877 "DOID:9521" +MONDO:0009877 "ICD10CM:E34.3" MONDO:0009877 "NCIT:C130994" +MONDO:0009877 "UMLS:C0271568" +MONDO:0009877 "MESH:D046150" MONDO:0009877 "OMIM:262500" -MONDO:0009877 "ICD10:E34.3" +MONDO:0009877 "Orphanet:633" +MONDO:0009877 "SCTID:38196001" +MONDO:0009877 "DOID:9521" MONDO:0007790 "Orphanet:64748" +MONDO:0007790 "ICD10CM:G60.0" MONDO:0007790 "GARD:0009204" MONDO:0007790 "UMLS:C0011195" MONDO:0007790 "SCTID:111499002" MONDO:0007790 "DOID:0050540" -MONDO:0007790 "ICD10:G60.0" MONDO:0007790 "OMIM:145900" MONDO:0007790 "NCIT:C133087" MONDO:0007443 "Orphanet:1166" +MONDO:0007443 "ICD10CM:Q87.0" MONDO:0007443 "SCTID:51409009" MONDO:0007443 "OMIM:125520" -MONDO:0007443 "ICD10:Q87.0" MONDO:0007443 "ICD9:759.89" MONDO:0003194 "DOID:490" NCBITaxon:1884637 "GC_ID:1" @@ -114070,11 +111208,11 @@ MONDO:0014482 "OMIM:616078" MONDO:0014482 "GARD:0013379" MONDO:0014482 "DOID:0070059" MONDO:0010842 "OMIM:600195" -MONDO:0010842 "ICD10:Q27.8" MONDO:0010842 "Orphanet:2451" MONDO:0010842 "MESH:C563977" MONDO:0010842 "SCTID:699301008" MONDO:0010842 "DOID:0050792" +MONDO:0010842 "ICD10CM:Q27.8" HP:0004357 "UMLS:C4025341" NCBITaxon:5807 "GC_ID:1" MONDO:0008475 "NCIT:C35033" @@ -114084,16 +111222,14 @@ MONDO:0008475 "HP:0003302" MONDO:0008475 "UMLS:C0038016" MONDO:0008475 "MESH:D013168" MONDO:0008475 "OMIM:184200" -MONDO:0008475 "ICD10:M43.10" -MONDO:0008475 "ICD10:M43.1" MONDO:0008475 "SCTID:274152003" MONDO:0018540 "Orphanet:42642" MONDO:0018540 "NCIT:C116917" MONDO:0018540 "GARD:0005657" MONDO:0018540 "SCTID:717231003" MONDO:0018540 "UMLS:CN205072" +MONDO:0018540 "ICD10CM:E85.0" MONDO:0018540 "UMLS:C4082167" -MONDO:0018540 "ICD10:E85.0" MONDO:0014104 "UMLS:C3808977" MONDO:0014104 "OMIM:615268" MONDO:0014104 "Orphanet:1766" @@ -114130,8 +111266,8 @@ MONDO:0013345 "DOID:0111352" MONDO:0013345 "Orphanet:79315" MONDO:0013345 "UMLS:C3150909" MONDO:0032802 "OMIM:618533" +MONDO:0017093 "ICD10CM:Q04.3" MONDO:0017093 "Orphanet:268947" -MONDO:0017093 "ICD10:Q04.3" MONDO:0002651 "NCIT:C5598" MONDO:0002651 "DOID:3446" MONDO:0002651 "UMLS:C1332274" @@ -114144,7 +111280,6 @@ MONDO:0015211 "Orphanet:108967" MONDO:0012333 "MESH:C566453" MONDO:0012333 "UMLS:C1864746" MONDO:0012333 "OMIM:609706" -MONDO:0012333 "ICD10:H90.3" MONDO:0012333 "DOID:0110509" MONDO:0020746 "OMIM:618469" HP:0007556 "UMLS:C1856954" @@ -114169,16 +111304,16 @@ MONDO:0030008 "OMIM:618839" MONDO:0033374 "OMIM:618008" MONDO:0033374 "DOID:0080430" MONDO:0033374 "UMLS:CN248516" +MONDO:0015194 "ICD10CM:D64.2" MONDO:0015194 "NCIT:C36078" MONDO:0015194 "Orphanet:1047" MONDO:0015194 "ICD9:285.0" MONDO:0015194 "SCTID:41841004" -MONDO:0015194 "ICD10:D64.2" -MONDO:0015194 "ICD10:D64.0" +MONDO:0015194 "ICD10CM:D64.3" +MONDO:0015194 "ICD10CM:D64.0" MONDO:0015194 "DOID:8955" MONDO:0015194 "GARD:0000667" -MONDO:0015194 "ICD10:D64.3" -MONDO:0015194 "ICD10:D64.1" +MONDO:0015194 "ICD10CM:D64.1" MONDO:0015194 "UMLS:C0002896" MONDO:0015194 "MESH:D000756" MONDO:0015194 "MedDRA:10040661" @@ -114199,48 +111334,46 @@ MONDO:0021941 "ICD9:086.4" MONDO:0017197 "MESH:C536054" MONDO:0017197 "UMLS:C2931096" MONDO:0017197 "Orphanet:2779" -MONDO:0017197 "ICD10:Q77.8" MONDO:0017197 "GARD:0005562" +MONDO:0017197 "ICD10CM:Q77.8" NCBITaxon:2560195 "GC_ID:1" -MONDO:0018143 "ICD10:E74.4" +MONDO:0018143 "ICD10CM:E74.4" MONDO:0018143 "Orphanet:353320" MONDO:0018143 "UMLS:CN204540" MONDO:0018143 "OMIM:266150" +MONDO:0010657 "ICD10CM:E71.1" MONDO:0010657 "OMIM:309541" MONDO:0010657 "GARD:0013137" MONDO:0010657 "UMLS:C0796208" -MONDO:0010657 "ICD10:E71.1" MONDO:0010657 "MESH:C563136" MONDO:0010657 "Orphanet:369962" -MONDO:0017373 "ICD10:A80.9" -MONDO:0017373 "ICD10:A80.0" +MONDO:0017373 "ICD10CM:A80.3" MONDO:0017373 "EFO:0007450" MONDO:0017373 "UMLS:C0032371" MONDO:0017373 "ICD9:045.9" +MONDO:0017373 "ICD10CM:A80.0" MONDO:0017373 "MedDRA:10036012" +MONDO:0017373 "ICD10CM:A80.2" MONDO:0017373 "GARD:0007413" -MONDO:0017373 "ICD10:A80.2" -MONDO:0017373 "ICD10:A80.4" +MONDO:0017373 "ICD10CM:A80.9" MONDO:0017373 "MESH:D011051" MONDO:0017373 "NCIT:C35550" MONDO:0017373 "Orphanet:2912" MONDO:0017373 "ICD9:045.90" +MONDO:0017373 "ICD10CM:A80.1" MONDO:0017373 "ICD9:045.92" MONDO:0017373 "DOID:4953" -MONDO:0017373 "ICD10:A80.1" -MONDO:0017373 "ICD10:A80.3" -MONDO:0017373 "ICD10:A80" +MONDO:0017373 "ICD10CM:A80.4" MONDO:0017373 "SCTID:398102009" MONDO:0017373 "ICD9:045" MONDO:0021520 "UMLS:C0153934" MONDO:0021520 "ICD9:210.3" -MONDO:0021520 "ICD10:D10.2" MONDO:0021520 "NCIT:C3593" +MONDO:0021520 "ICD10CM:D10.2" MONDO:0021520 "SCTID:92109005" MONDO:0005264 "NCIT:C50781" MONDO:0005264 "ICD9:435.9" MONDO:0005264 "SCTID:266257000" -MONDO:0005264 "ICD10:G45.9" MONDO:0005264 "DOID:224" MONDO:0005264 "EFO:0003764" MONDO:0005264 "ICD9:435.8" @@ -114249,15 +111382,15 @@ MONDO:0005264 "MESH:D002546" MONDO:0005264 "HP:0002326" MONDO:0004010 "UMLS:C1512750" MONDO:0004010 "NCIT:C39879" -MONDO:0016831 "ICD10:Q82.5" +MONDO:0016831 "ICD10CM:Q82.5" MONDO:0016831 "UMLS:CN202159" MONDO:0016831 "Orphanet:2611" MONDO:0016831 "GARD:0003259" +MONDO:0011603 "ICD10CM:G71.8" MONDO:0011603 "Orphanet:602" MONDO:0011603 "OMIM:617158" MONDO:0011603 "OMIM:605820" MONDO:0011603 "GARD:0009493" -MONDO:0011603 "ICD10:G71.8" MONDO:0011603 "SCTID:702382000" CL:0000312 "CALOHA:TS-0500" CL:0000312 "BTO:0000667" @@ -114269,39 +111402,38 @@ MONDO:0006210 "UMLS:C0334287" MONDO:0006210 "ONCOTREE:FLC" MONDO:0006210 "ICDO:8171/3" MONDO:0006210 "MESH:C537258" -MONDO:0006210 "ICD10:C22.0" +MONDO:0006210 "ICD10CM:C22.0" MONDO:0006210 "Orphanet:401920" MONDO:0006210 "GARD:0009396" MONDO:0006210 "SCTID:253018005" MONDO:0009727 "OMIM:256050" MONDO:0009727 "GARD:0008329" MONDO:0009727 "MESH:C535395" -MONDO:0009727 "ICD10:Q77.5" MONDO:0009727 "SCTID:254055004" MONDO:0009727 "UMLS:C1850554" MONDO:0009727 "UMLS:C1850555" MONDO:0009727 "ICD9:756.9" MONDO:0009727 "Orphanet:56304" +MONDO:0009727 "ICD10CM:Q77.5" +MONDO:0020323 "ICD10CM:C83.3" MONDO:0020323 "UMLS:C1292754" -MONDO:0020323 "ICD10:C83.3" MONDO:0020323 "NCIT:C9280" MONDO:0020323 "Orphanet:98838" MONDO:0020323 "MedDRA:10036710" MONDO:0020323 "ONCOTREE:PMBL" MONDO:0020323 "DOID:0080210" -MONDO:0020323 "SCTID:444910004" MONDO:0020323 "ICDO:9679/3" -MONDO:0020323 "ICD10:C85.2" +MONDO:0020323 "SCTID:444910004" MONDO:0010434 "UMLS:C0039101" MONDO:0010434 "MESH:D013584" MONDO:0010434 "DOID:5485" MONDO:0010434 "HP:0012570" MONDO:0010434 "SCTID:302851001" MONDO:0010434 "EFO:0001376" -MONDO:0010434 "ICD10:C49.9" MONDO:0010434 "ONCOTREE:SYNS" MONDO:0010434 "ICDO:9040/3" MONDO:0010434 "OMIM:300813" +MONDO:0010434 "ICD10CM:C49.9" MONDO:0010434 "GARD:0007721" MONDO:0010434 "Orphanet:3273" MONDO:0010434 "NCIT:C3400" @@ -114320,42 +111452,40 @@ MONDO:0003701 "DOID:5914" MONDO:0002075 "UMLS:C0155907" MONDO:0002075 "DOID:1672" MONDO:0002075 "ICD9:512.0" +MONDO:0002075 "ICD10CM:J93.0" MONDO:0002075 "SCTID:196102003" -MONDO:0002075 "ICD10:J93.0" MONDO:0007729 "OMIM:142700" +MONDO:0017576 "ICD10CM:Q56.2" MONDO:0017576 "UMLS:C2936403" MONDO:0017576 "SCTID:8800006" MONDO:0017576 "UMLS:CN776919" -MONDO:0017576 "ICD10:Q56.2" MONDO:0017576 "Orphanet:2982" MONDO:0017576 "MESH:D058489" MONDO:0017576 "NCIT:C127169" MONDO:0000763 "DOID:0060440" MONDO:0006666 "EFO:1000827" MONDO:0006666 "MedDRA:10043693" -MONDO:0006666 "ICD10:E03.4" MONDO:0006666 "SCTID:190309006" MONDO:0006666 "ICD9:246.8" MONDO:0006666 "UMLS:C2981141" MONDO:0006666 "NCIT:C26942" +MONDO:0016361 "ICD10CM:D69.1" MONDO:0016361 "Orphanet:220452" -MONDO:0016361 "ICD10:D69.1" MONDO:0016361 "UMLS:CN226911" MONDO:0007612 "UMLS:C1851112" MONDO:0007612 "MESH:C535886" +MONDO:0007612 "ICD10CM:H90.3" MONDO:0007612 "SCTID:722449007" -MONDO:0007612 "ICD10:H90.3" MONDO:0007612 "Orphanet:2027" MONDO:0007612 "OMIM:135550" MONDO:0007612 "GARD:0003056" MONDO:0005451 "EFO:0005203" MONDO:0005451 "ICD9:307.50" MONDO:0005451 "NCIT:C89332" -MONDO:0005451 "ICD10:F50" -MONDO:0005451 "ICD10:F50.9" MONDO:0005451 "SCTID:72366004" MONDO:0005451 "ICD9:307.59" MONDO:0005451 "DOID:8670" +MONDO:0005451 "ICD10CM:F50-F59" MONDO:0000608 "UMLS:CN239392" MONDO:0000608 "SCTID:46785007" MONDO:0000608 "OMIM:613092" @@ -114385,15 +111515,28 @@ MONDO:0002254 "DOID:225" MONDO:0002254 "NCIT:C28193" MONDO:0002254 "OGMS:0000086" MONDO:0002254 "MESH:D013577" -MONDO:0021178 "EFO:0000546" -MONDO:0021178 "ICD10:S00.T98" +MONDO:0021178 "ICD10CM:S60-S69" MONDO:0021178 "MESH:D014947" +MONDO:0021178 "ICD10CM:S00-T98" +MONDO:0021178 "ICD10CM:T33-T34" +MONDO:0021178 "ICD10CM:S40-S49" +MONDO:0021178 "ICD10CM:S50-S59" +MONDO:0021178 "ICD10CM:S10-S19" +MONDO:0021178 "ICD10CM:S00-T88" +MONDO:0021178 "ICD10CM:T14-T14" +MONDO:0021178 "ICD10CM:S80-S89" +MONDO:0021178 "ICD10CM:S90-S99" MONDO:0021178 "NCIT:C3671" +MONDO:0021178 "EFO:0000546" +MONDO:0021178 "ICD10CM:S20-S29" +MONDO:0021178 "ICD10CM:S00-S09" +MONDO:0021178 "ICD10CM:S30-S39" +MONDO:0021178 "ICD10CM:T07-T07" +MONDO:0021178 "ICD10CM:S70-S79" MONDO:0000293 "SCTID:24360007" MONDO:0000293 "ICD9:123.8" MONDO:0000293 "DOID:0050251" MONDO:0000293 "UMLS:C0009225" -MONDO:0017763 "ICD10:E83.1" MONDO:0017763 "UMLS:CN227206" MONDO:0017763 "Orphanet:309842" MONDO:0013418 "UMLS:C3151077" @@ -114405,9 +111548,9 @@ MONDO:0008025 "DOID:0111208" MONDO:0008025 "Orphanet:139525" MONDO:0008025 "UMLS:C1834692" MONDO:0011166 "OMIM:601927" +MONDO:0011166 "ICD10CM:Q87.8" MONDO:0011166 "SCTID:721978002" MONDO:0011166 "MESH:C535539" -MONDO:0011166 "ICD10:Q87.8" MONDO:0011166 "GARD:0000284" MONDO:0011166 "MESH:C567398" MONDO:0011166 "Orphanet:86915" @@ -114419,12 +111562,13 @@ MONDO:0016654 "Orphanet:251043" MONDO:0016654 "SCTID:765487008" MONDO:0016654 "GARD:0010841" MONDO:0016654 "NCIT:C121984" -MONDO:0016654 "ICD10:Q93.2" +MONDO:0016654 "ICD10CM:Q93.2" MONDO:0016654 "UMLS:C4050064" MONDO:0001930 "NCIT:C35334" MONDO:0001930 "UMLS:C0267917" MONDO:0001930 "SCTID:6215006" MONDO:0001930 "DOID:14271" +MONDO:0017600 "ICD10CM:C91.4" MONDO:0017600 "NCIT:C7401" MONDO:0017600 "UMLS:C0349633" MONDO:0017600 "SCTID:277568007" @@ -114432,14 +111576,13 @@ MONDO:0017600 "DOID:713" MONDO:0017600 "MedDRA:10019054" MONDO:0017600 "Orphanet:300878" MONDO:0017600 "ICDO:9591/3" -MONDO:0017600 "ICD10:C91.4" MONDO:0042602 "UMLS:C2931449" MONDO:0042602 "MESH:C537231" MONDO:0042602 "GARD:0000152" -MONDO:0020493 "ICD10:G47.3" MONDO:0020493 "Orphanet:99803" MONDO:0020493 "OMIM:209880" MONDO:0020493 "SCTID:719972004" +MONDO:0020493 "ICD10CM:G47.3" MONDO:0003695 "DOID:5897" MONDO:0003695 "NCIT:C40085" MONDO:0003695 "UMLS:C1518694" @@ -114455,9 +111598,9 @@ MONDO:0010154 "MESH:C564759" MONDO:0010154 "GARD:0005277" MONDO:0010154 "Orphanet:3368" MONDO:0010154 "GARD:0005126" -MONDO:0010154 "ICD10:Q87.0" MONDO:0010154 "UMLS:C1848743" MONDO:0010154 "OMIM:275595" +MONDO:0010154 "ICD10CM:Q87.0" MONDO:0011237 "UMLS:C1865289" MONDO:0011237 "OMIM:602491" MONDO:0011237 "MESH:C566535" @@ -114478,8 +111621,8 @@ MONDO:0005630 "EFO:0007127" MONDO:0005630 "DOID:4974" MONDO:0005630 "SCTID:16140007" MONDO:0005630 "MESH:D000187" -MONDO:0009372 "ICD10:E70.8" MONDO:0009372 "UMLS:C0268474" +MONDO:0009372 "ICD10CM:E70.8" MONDO:0009372 "SCTID:72945002" MONDO:0009372 "ICD9:270.2" MONDO:0009372 "OMIM:236800" @@ -114488,24 +111631,23 @@ MONDO:0009372 "MESH:C536081" MONDO:0009372 "Orphanet:79155" MONDO:0030869 "OMIM:619145" MONDO:0011595 "OMIM:605779" +MONDO:0011595 "ICD10CM:Q84.6" MONDO:0011595 "UMLS:C1853984" -MONDO:0011595 "ICD10:Q84.6" MONDO:0011595 "DOID:0080085" MONDO:0011595 "GARD:0009761" MONDO:0011595 "Orphanet:79144" MONDO:0011595 "SCTID:403281007" MONDO:0011595 "MESH:C538333" MONDO:0020102 "UMLS:C1262483" -MONDO:0020102 "ICD10:D58.8" MONDO:0020102 "SCTID:14087004" MONDO:0020102 "ICD9:282.8" MONDO:0020102 "Orphanet:98365" MONDO:0011424 "UMLS:C1858592" -MONDO:0011424 "ICD10:D44.8" -MONDO:0011424 "NCIT:C94833" MONDO:0011424 "SCTID:733492003" +MONDO:0011424 "NCIT:C94833" MONDO:0011424 "Orphanet:139411" MONDO:0011424 "GARD:0010924" +MONDO:0011424 "ICD10CM:D44.8" MONDO:0011424 "MESH:C565803" MONDO:0011424 "OMIM:604287" MONDO:0010846 "OMIM:600209" @@ -114525,21 +111667,16 @@ MONDO:0009580 "MESH:C565406" NCBITaxon:133894 "GC_ID:1" NCBITaxon:136841 "GC_ID:11" MONDO:0005160 "NCIT:C27198" -MONDO:0005160 "ICD10:I71.9" MONDO:0005160 "EFO:0001666" MONDO:0005160 "UMLS:C0003486" MONDO:0005160 "HP:0004942" MONDO:0005160 "NCIT:C27299" MONDO:0005160 "DOID:3627" -MONDO:0005160 "ICD10:I71.3" MONDO:0005160 "UMLS:C1305122" -MONDO:0005160 "ICD10:I71.8" MONDO:0005160 "ICD9:441.3" MONDO:0005160 "UMLS:C0265010" MONDO:0005160 "ICD9:441.5" MONDO:0005160 "SCTID:73067008" -MONDO:0005160 "ICD10:I71.1" -MONDO:0005160 "ICD10:I71.5" MONDO:0005160 "UMLS:C0741160" MONDO:0005160 "MP:0006278" MONDO:0005160 "NCIT:C26697" @@ -114548,9 +111685,8 @@ MONDO:0005160 "UMLS:C0265012" MONDO:0005160 "NCIT:C27046" MONDO:0005160 "ICD9:441.6" MONDO:0005160 "OMIM:607086" +MONDO:0017008 "ICD10CM:Q99.8" MONDO:0017008 "Orphanet:263768" -MONDO:0017008 "ICD10:Q99.8" -MONDO:0004871 "ICD10:K64.5" MONDO:0004871 "DOID:9745" MONDO:0004871 "ICD9:455.4" MONDO:0004871 "SCTID:26373009" @@ -114572,13 +111708,13 @@ MONDO:0060489 "OMIM:617480" MONDO:0012177 "MESH:C536343" MONDO:0012177 "OMIM:609033" MONDO:0012177 "UMLS:C4510304" +MONDO:0012177 "ICD10CM:G11.1" MONDO:0012177 "GARD:0009898" MONDO:0012177 "UMLS:C1836916" MONDO:0012177 "SCTID:724065003" -MONDO:0012177 "ICD10:G11.1" MONDO:0012177 "Orphanet:88628" +MONDO:0019646 "ICD10CM:Q63.8" MONDO:0019646 "Orphanet:93176" -MONDO:0019646 "ICD10:Q63.8" MONDO:0005043 "MESH:D006965" MONDO:0005043 "NCIT:C3113" MONDO:0005043 "EFO:0000536" @@ -114586,7 +111722,7 @@ MONDO:0004487 "DOID:8178" MONDO:0004487 "NCIT:C40233" MONDO:0004487 "UMLS:C1516406" MONDO:0018449 "UMLS:CN226194" -MONDO:0018449 "ICD10:C64" +MONDO:0018449 "ICD10CM:C64" MONDO:0018449 "Orphanet:404514" MONDO:0014356 "Orphanet:1460" MONDO:0014356 "DOID:0080116" @@ -114595,7 +111731,6 @@ MONDO:0014356 "UMLS:C4014408" HP:0100491 "UMLS:C4020971" MONDO:0012082 "UMLS:C1837646" MONDO:0012082 "OMIM:608638" -MONDO:0013293 "ICD10:Q11.0" MONDO:0013293 "OMIM:613517" MONDO:0013293 "Orphanet:2542" MONDO:0013293 "DOID:0060835" @@ -114607,17 +111742,16 @@ MONDO:0019833 "Orphanet:95503" MONDO:0019833 "UMLS:CN206780" NCBITaxon:6295 "GC_ID:1" MONDO:0015584 "Orphanet:163703" -MONDO:0015584 "ICD10:G40.5" MONDO:0015584 "GARD:0011005" MONDO:0015584 "UMLS:CN199955" +MONDO:0015584 "ICD10CM:G40.5" MONDO:0015584 "SCTID:725413002" NCBITaxon:147572 "GC_ID:1" MONDO:0018636 "UMLS:CN237691" MONDO:0018636 "Orphanet:444463" -MONDO:0018636 "ICD10:D61.0" +MONDO:0018636 "ICD10CM:D61.0" MONDO:0011016 "DOID:0110750" MONDO:0011016 "OMIM:601208" -MONDO:0011016 "ICD10:E10" MONDO:0011016 "MESH:C563371" MONDO:0011016 "UMLS:C1832605" MONDO:0017178 "ICD9:732.7" @@ -114626,37 +111760,36 @@ MONDO:0017178 "UMLS:C0029421" MONDO:0017178 "Orphanet:251262" MONDO:0017178 "MESH:D010008" MONDO:0017178 "NCIT:C34878" +MONDO:0017178 "ICD10CM:M93.2" MONDO:0017178 "OMIM:165800" MONDO:0017178 "HP:0010886" MONDO:0017178 "DOID:84" MONDO:0017178 "Orphanet:2764" -MONDO:0017178 "ICD10:M93.2" -MONDO:0017178 "ICD10:M93.9" MONDO:0017178 "GARD:0012703" MONDO:0017178 "SCTID:82562007" MONDO:0017178 "GARD:0004133" MONDO:0054852 "OMIM:618084" MONDO:0032831 "OMIM:618606" +MONDO:0015421 "ICD10CM:Q87.0" MONDO:0015421 "SCTID:763834000" MONDO:0015421 "Orphanet:141327" MONDO:0015421 "UMLS:C2932679" MONDO:0015421 "GARD:0010693" -MONDO:0015421 "ICD10:Q87.0" MONDO:0015421 "MESH:C548034" HP:0011280 "UMLS:C4023434" MONDO:0009001 "MESH:C565686" MONDO:0009001 "OMIM:216800" MONDO:0009001 "UMLS:C1857619" +MONDO:0009001 "ICD10CM:Q87.8" MONDO:0009001 "Orphanet:91494" -MONDO:0009001 "ICD10:Q87.8" MONDO:0009001 "SCTID:722463001" MONDO:0001345 "ICD9:305.8" MONDO:0001345 "DOID:11718" MONDO:0007248 "Orphanet:79141" MONDO:0007248 "MESH:C566180" +MONDO:0007248 "ICD10CM:Q82.8" MONDO:0007248 "UMLS:C1861964" MONDO:0007248 "OMIM:114140" -MONDO:0007248 "ICD10:Q82.8" MONDO:0018815 "HP:0012063" MONDO:0018815 "OMIM:606179" MONDO:0018815 "SCTID:203468000" @@ -114666,7 +111799,6 @@ MONDO:0018815 "NCIT:C3516" MONDO:0018815 "GARD:0008646" MONDO:0009175 "ICD9:728.89" MONDO:0009175 "HP:0045029" -MONDO:0009175 "ICD10:M35.4" MONDO:0009175 "NCIT:C112116" MONDO:0009175 "MedDRA:10014954" MONDO:0009175 "UMLS:C0264005" @@ -114682,15 +111814,16 @@ MONDO:0016166 "OMIMPS:145000" MONDO:0010649 "SCTID:734026006" MONDO:0010649 "GARD:0012648" MONDO:0010649 "OMIM:309300" +MONDO:0010649 "ICD10CM:Q15.8" MONDO:0010649 "Orphanet:91489" -MONDO:0010649 "ICD10:Q15.8" MONDO:0003916 "MESH:D044343" MONDO:0003916 "SCTID:302872003" MONDO:0003916 "ICD9:278.8" MONDO:0003916 "UMLS:C1257763" MONDO:0003916 "DOID:654" +MONDO:0003916 "ICD10CM:E65-E68" MONDO:0019542 "Orphanet:90062" -MONDO:0019542 "ICD10:K72.0" +MONDO:0019542 "ICD10CM:K72.0" MONDO:0019542 "MESH:D017114" MONDO:0019542 "UMLS:C0162557" MONDO:0019542 "NCIT:C84396" @@ -114698,7 +111831,7 @@ MONDO:0019542 "SCTID:197270009" MONDO:0019542 "MedDRA:10000804" MONDO:0017399 "SCTID:716667005" MONDO:0017399 "Orphanet:293848" -MONDO:0017399 "ICD10:G31.0" +MONDO:0017399 "ICD10CM:G31.0" MONDO:0017399 "UMLS:CN203142" MONDO:0017399 "OMIM:600274" MONDO:0002747 "DOID:3707" @@ -114711,30 +111844,28 @@ MONDO:0001532 "ICD9:127.5" MONDO:0001532 "DOID:12474" MONDO:0001532 "UMLS:C0006897" MONDO:0001532 "SCTID:52979002" -MONDO:0001532 "ICD10:B81.1" MONDO:0024945 "MESH:D006520" MONDO:0007435 "NCIT:C122653" MONDO:0007435 "DOID:0060162" MONDO:0007435 "UMLS:C0751781" -MONDO:0007435 "ICD10:G11.8" MONDO:0007435 "SCTID:68116008" MONDO:0007435 "Orphanet:101" MONDO:0007435 "OMIM:125370" MONDO:0007435 "GARD:0005643" +MONDO:0007435 "ICD10CM:G11.8" MONDO:0007435 "ICD9:333.99" MONDO:0009222 "UMLS:C1856789" MONDO:0009222 "OMIM:228250" MONDO:0009222 "MESH:C537917" -MONDO:0009222 "ICD10:Q74.8" +MONDO:0009222 "ICD10CM:Q74.8" MONDO:0009222 "Orphanet:1986" MONDO:0009222 "GARD:0002285" MONDO:0009222 "SCTID:716006003" HP:0003112 "UMLS:C4025653" -MONDO:0016049 "ICD10:G71.2" +MONDO:0016049 "ICD10CM:G71.2" MONDO:0016049 "Orphanet:199329" MONDO:0013471 "OMIM:613865" MONDO:0013471 "DOID:0110513" -MONDO:0013471 "ICD10:H90.3" MONDO:0013471 "UMLS:C3151230" MONDO:0001735 "NCIT:C26843" MONDO:0001735 "DOID:1352" @@ -114743,10 +111874,10 @@ MONDO:0001735 "UMLS:C0030469" MONDO:0001735 "SCTID:7393007" MONDO:0001735 "MESH:D010254" NCBITaxon:123365 "GC_ID:1" +MONDO:0018228 "ICD10CM:Q66.8" MONDO:0018228 "Orphanet:364198" MONDO:0018228 "SCTID:763128009" MONDO:0018228 "UMLS:CN227287" -MONDO:0018228 "ICD10:Q66.8" MONDO:0006033 "ONCOTREE:DIPG" MONDO:0006033 "Orphanet:497188" MONDO:0006033 "UMLS:C2986658" @@ -114756,9 +111887,9 @@ MONDO:0006033 "GARD:0013075" MONDO:0005477 "SCTID:25569003" MONDO:0005477 "MESH:D017180" MONDO:0005477 "NCIT:C50802" -MONDO:0005477 "ICD10:I47.2" MONDO:0005477 "UMLS:C0042514" MONDO:0005477 "EFO:0005306" +MONDO:0005477 "ICD10CM:I47.2" MONDO:0003390 "ICDO:8315/3" MONDO:0003390 "NCIT:C40368" MONDO:0003390 "UMLS:C1512224" @@ -114777,7 +111908,6 @@ NCBITaxon:2169971 "GC_ID:1" MONDO:0014287 "DOID:0110095" MONDO:0014287 "Orphanet:474" MONDO:0014287 "UMLS:C3810200" -MONDO:0014287 "ICD10:Q77.2" MONDO:0014287 "OMIM:615633" MONDO:0014287 "Orphanet:93271" MONDO:0018638 "SCTID:77098009" @@ -114797,9 +111927,9 @@ MONDO:0011760 "NCIT:C61265" MONDO:0011760 "Orphanet:93474" MONDO:0011760 "OMIM:607016" MONDO:0011760 "Orphanet:579" +MONDO:0011760 "ICD10CM:E76.0" MONDO:0011760 "GARD:0012561" MONDO:0011760 "DOID:0060222" -MONDO:0011760 "ICD10:E76.0" MONDO:0020063 "UMLS:CN206967" MONDO:0020063 "Orphanet:98196" MONDO:0000976 "NCIT:C6384" @@ -114809,17 +111939,17 @@ MONDO:0015016 "UMLS:C4310623" MONDO:0015016 "DOID:0080611" MONDO:0015016 "OMIM:617315" MONDO:0014300 "DOID:0111335" -MONDO:0014300 "ICD10:G71.3" MONDO:0014300 "OMIM:615673" MONDO:0014300 "GARD:0012978" MONDO:0014300 "Orphanet:401768" MONDO:0014300 "UMLS:C3810285" +MONDO:0014300 "ICD10CM:G71.3" NCBITaxon:12080 "GC_ID:1" MONDO:0014474 "UMLS:C4015095" MONDO:0014474 "Orphanet:352479" MONDO:0014474 "OMIM:616052" +MONDO:0014474 "ICD10CM:G71.0" MONDO:0014474 "DOID:0110295" -MONDO:0014474 "ICD10:G71.0" MONDO:0012006 "UMLS:C1842316" MONDO:0012006 "OMIM:608279" MONDO:0012006 "MESH:C564263" @@ -114829,13 +111959,13 @@ MONDO:0011290 "UMLS:C1864183" MONDO:0018094 "OMIM:606662" MONDO:0018094 "SCTID:715952000" MONDO:0018094 "OMIM:600193" -MONDO:0018094 "ICD10:E70.3" MONDO:0018094 "NCIT:C85222" MONDO:0018094 "UMLS:C1847800" MONDO:0018094 "OMIM:611584" MONDO:0018094 "Orphanet:895" MONDO:0018094 "OMIM:193500" MONDO:0018094 "OMIM:193510" +MONDO:0018094 "ICD10CM:E70.3" MONDO:0018094 "GARD:0005525" MONDO:0018094 "OMIMPS:193500" MONDO:0018094 "DOID:9258" @@ -114854,28 +111984,27 @@ MONDO:0012342 "UMLS:C4512054" MONDO:0012342 "Orphanet:96121" MONDO:0012342 "MESH:C565723" MONDO:0012342 "OMIM:609757" -MONDO:0012342 "ICD10:Q92.3" MONDO:0009916 "MESH:C564868" MONDO:0009916 "SCTID:50658006" MONDO:0009916 "MESH:C537805" -MONDO:0009916 "ICD10:E29.1" +MONDO:0009916 "ICD10CM:E29.1" MONDO:0009916 "GARD:0005659" MONDO:0009916 "Orphanet:752" MONDO:0009916 "NCIT:C120203" MONDO:0009916 "OMIM:264300" MONDO:0016457 "Orphanet:228396" -MONDO:0016457 "ICD10:Q87.0" +MONDO:0016457 "ICD10CM:Q87.0" MONDO:0016457 "UMLS:CN201421" +MONDO:0013579 "ICD10CM:E71.1" MONDO:0013579 "OMIM:614105" MONDO:0013579 "UMLS:C3279840" -MONDO:0013579 "ICD10:E71.1" MONDO:0013579 "MESH:C566402" MONDO:0013579 "Orphanet:289307" MONDO:0008853 "OMIM:209885" -MONDO:0008853 "ICD10:Q87.0" MONDO:0008853 "SCTID:408537003" MONDO:0008853 "UMLS:C1319466" MONDO:0008853 "DOID:0060549" +MONDO:0008853 "ICD10CM:Q87.0" MONDO:0008853 "Orphanet:1231" MONDO:0008853 "GARD:0000819" MONDO:0008853 "MESH:C537908" @@ -114888,15 +112017,15 @@ MONDO:0015656 "UMLS:C1299598" MONDO:0014521 "Orphanet:435438" MONDO:0014521 "NCIT:C142804" MONDO:0014521 "UMLS:C4015420" -MONDO:0014521 "ICD10:G40.3" MONDO:0014521 "DOID:0111447" +MONDO:0014521 "ICD10CM:G40.3" MONDO:0014521 "OMIM:616187" MONDO:0000295 "SCTID:105713003" MONDO:0000295 "DOID:0050254" MONDO:0000295 "UMLS:C0277331" MONDO:0001241 "UMLS:C0158997" -MONDO:0001241 "ICD10:P61.5" MONDO:0001241 "SCTID:55444004" +MONDO:0001241 "ICD10CM:P61.5" MONDO:0001241 "ICD9:776.7" MONDO:0001241 "DOID:11245" MONDO:0021325 "UMLS:C0153411" @@ -114911,7 +112040,7 @@ MONDO:0032833 "OMIM:618612" NCBITaxon:55193 "GC_ID:1" MONDO:0100294 "GARD:0005053" MONDO:0100294 "Orphanet:3208" -MONDO:0100294 "ICD10:G71.3" +MONDO:0100294 "ICD10CM:G71.3" MONDO:0100294 "ICD9:277.6" MONDO:0100294 "SCTID:124165006" MONDO:0100294 "OMIM:252011" @@ -114919,13 +112048,13 @@ MONDO:0100294 "MESH:C565375" MONDO:0100294 "DOID:0060537" MONDO:0030930 "OMIM:619157" MONDO:0017039 "UMLS:CN202350" -MONDO:0017039 "ICD10:J70.3" +MONDO:0017039 "ICD10CM:J70.3" +MONDO:0017039 "ICD10CM:J70.1" +MONDO:0017039 "ICD10CM:J70.0" MONDO:0017039 "Orphanet:264978" -MONDO:0017039 "ICD10:J70.0" -MONDO:0017039 "ICD10:J70.4" -MONDO:0017039 "ICD10:J70.2" -MONDO:0017039 "ICD10:J70.1" -MONDO:0008224 "ICD10:G72.3" +MONDO:0017039 "ICD10CM:J70.2" +MONDO:0017039 "ICD10CM:J70.4" +MONDO:0008224 "ICD10CM:G72.3" MONDO:0008224 "DOID:14451" MONDO:0008224 "UMLS:CN074266" MONDO:0008224 "MESH:D020513" @@ -114936,21 +112065,19 @@ MONDO:0008224 "SCTID:304737009" MONDO:0008224 "GARD:0000195" MONDO:0008224 "Orphanet:682" MONDO:0015727 "Orphanet:1706" +MONDO:0015727 "ICD10CM:Q92.1" MONDO:0015727 "MESH:C538037" MONDO:0015727 "SCTID:764619001" MONDO:0015727 "GARD:0005313" MONDO:0015727 "UMLS:CN035788" -MONDO:0015727 "ICD10:Q92.1" MONDO:0000568 "DOID:0060004" MONDO:0007027 "NCIT:C84445" MONDO:0007027 "MedDRA:10053219" -MONDO:0007027 "ICD10:K75.81" MONDO:0007027 "EFO:1001249" MONDO:0007027 "DOID:0080547" MONDO:0002682 "GARD:0006025" MONDO:0002682 "SCTID:126958000" MONDO:0002682 "NCIT:C2937" -MONDO:0002682 "ICD10:C71.5" MONDO:0002682 "DOID:3541" MONDO:0002682 "MESH:D002551" MONDO:0002682 "ICD9:191.5" @@ -114964,9 +112091,9 @@ MONDO:0007109 "SCTID:26409005" MONDO:0007109 "GARD:0002002" MONDO:0007109 "DOID:0111399" MONDO:0007109 "UMLS:C0271934" -MONDO:0007109 "ICD10:D64.4" MONDO:0007109 "Orphanet:98870" MONDO:0007109 "OMIM:105600" +MONDO:0007109 "ICD10CM:D64.4" MONDO:0007109 "ICD9:285.8" HP:0001159 "UMLS:C0039075" HP:0001159 "MSH:D013576" @@ -114992,10 +112119,11 @@ MONDO:0012750 "Orphanet:53696" MONDO:0012750 "OMIM:611890" MONDO:0016331 "OMIM:228600" MONDO:0016331 "Orphanet:2176" +MONDO:0016331 "ICD10CM:E78.8" MONDO:0016331 "SCTID:238867003" -MONDO:0016331 "ICD10:E78.8" +MONDO:0016331 "OMIM:236490" MONDO:0009665 "SCTID:8808004" -MONDO:0009665 "ICD10:D81.810" +MONDO:0009665 "ICD10CM:E53.8" MONDO:0009665 "UMLS:CN043572" MONDO:0009665 "MESH:D028921" MONDO:0009665 "NCIT:C84598" @@ -115005,15 +112133,15 @@ MONDO:0009665 "ICD9:277.6" MONDO:0009665 "DOID:856" MONDO:0009665 "OMIM:253260" MONDO:0009665 "UMLS:C0220754" -MONDO:0009665 "ICD10:E53.8" +MONDO:0009665 "ICD10CM:D81.810" MONDO:0009665 "GARD:0000894" MONDO:0015914 "GARD:0012959" MONDO:0015914 "Orphanet:182058" +MONDO:0008445 "ICD10CM:Q87.0" MONDO:0008445 "SCTID:716199000" MONDO:0008445 "GARD:0003449" MONDO:0008445 "UMLS:C2931119" MONDO:0008445 "Orphanet:3038" -MONDO:0008445 "ICD10:Q87.0" MONDO:0008445 "OMIM:182875" MONDO:0018510 "NCIT:C5803" MONDO:0018510 "DOID:4434" @@ -115023,28 +112151,28 @@ MONDO:0018510 "UMLS:CN237515" MONDO:0012284 "OMIM:609469" MONDO:0012284 "UMLS:C1836119" MONDO:0012284 "MESH:C563713" -MONDO:0016459 "ICD10:Q93.5" +MONDO:0016459 "ICD10CM:Q93.5" MONDO:0016459 "OMIM:156200" MONDO:0016459 "SCTID:719657001" MONDO:0016459 "GARD:0010998" MONDO:0016459 "Orphanet:228402" -MONDO:0001737 "ICD10:A33" +MONDO:0001737 "ICD10CM:A33" MONDO:0001737 "ICD9:771.3" MONDO:0001737 "SCTID:43424001" MONDO:0001737 "NCIT:C116814" MONDO:0001737 "DOID:13521" MONDO:0001737 "UMLS:C0343312" MONDO:0017405 "UMLS:C4304578" -MONDO:0017405 "ICD10:Q93.5" +MONDO:0017405 "ICD10CM:Q93.5" MONDO:0017405 "UMLS:CN203152" MONDO:0017405 "SCTID:719600006" MONDO:0017405 "Orphanet:293948" -MONDO:0020298 "ICD10:Q87.1" +MONDO:0020298 "ICD10CM:Q87.1" MONDO:0020298 "UMLS:CN207093" MONDO:0020298 "Orphanet:98754" MONDO:0017772 "Orphanet:31142" MONDO:0017772 "UMLS:CN203692" -MONDO:0017772 "ICD10:L43.8" +MONDO:0017772 "ICD10CM:L43.8" MONDO:0003329 "SCTID:20018005" MONDO:0003329 "HP:0006000" MONDO:0003329 "ICD9:593.4" @@ -115073,9 +112201,9 @@ MONDO:0008632 "UMLS:C0263334" MONDO:0000978 "UMLS:C1333509" MONDO:0000978 "DOID:10209" MONDO:0000978 "NCIT:C5854" +MONDO:0016646 "ICD10CM:H47.2" MONDO:0016646 "UMLS:CN201872" MONDO:0016646 "Orphanet:250932" -MONDO:0016646 "ICD10:H47.2" HP:0001417 "SNOMEDCT_US:263934009" HP:0001417 "MSH:D050172" HP:0001417 "UMLS:C0241764" diff --git a/src/ontology/components/mondo-tags.owl b/src/ontology/components/mondo-tags.owl index 4299d84e13..5df398f686 100644 --- a/src/ontology/components/mondo-tags.owl +++ b/src/ontology/components/mondo-tags.owl @@ -11998,14 +11998,6 @@ - - - - - - - - @@ -21122,14 +21114,6 @@ - - - - - - - - diff --git a/src/ontology/reports/mondo_base_current_release-report.tsv b/src/ontology/reports/mondo_base_current_release-report.tsv index 8eddfa345c..5d8d10c544 100644 --- a/src/ontology/reports/mondo_base_current_release-report.tsv +++ b/src/ontology/reports/mondo_base_current_release-report.tsv @@ -2078,7 +2078,7 @@ "endosalpingiosis" "A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain." "" "endometriosis of intestine" "Endometriosis that affects the intesines." "" "endometriosis of pelvic peritoneum" "" - "disorder of peritoneum" "A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma." "" + "disorder of peritoneum" "A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma." "True" "endometriosis in cutaneous scar" "" "endometriosis of rectovaginal septum and vagina" "Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina." "" "obsolete endometriosis of ovary" "" "true" @@ -2171,7 +2171,7 @@ "selective IgA deficiency disease" "A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders." "" "dysgammaglobulinemia" "An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins." "" "selective immunoglobulin deficiency disease" "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity." "" - "blood protein disease" "" + "blood protein disease" "True" "impaired renal function disease" "Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction." "" "obsolete neonatal diabetes mellitus" "" "true" "antidepressant type abuse" "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences." "" @@ -2495,7 +2495,7 @@ "vestibulocochlear nerve disorder" "A disease involving the vestibulocochlear nerve." "" "retrocochlear disease" "Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss." "" "cranial nerve neuropathy" "A neoplastic or non-neoplastic disorder that affects one of the cranial nerves." "" - "head disorder" "A disease involving the head." "" + "head disorder" "A disease involving the head." "True" "binocular vision disease" "Any inability to efficiently utilize and/or sustain binocular vision." "" "abnormal retinal correspondence" "" "calcium metabolic disease" "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization." "" @@ -2681,7 +2681,7 @@ "reading disorder" "A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process." "" "tinea profunda" "A dermatophytosis that involves the deep dermal layers." "" "tinea manuum" "A dermatophytosis that involves the hands." "" - "hand disorder" "A disease or disorder that involves the manus." "" + "hand disorder" "A disease or disorder that involves the manus." "True" "megaloblastic anemia" "Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs." "" "macrocytic anemia" "Anemia that is characterized by increased red blood cell volume." "" "labia majora carcinoma" "A carcinoma that arises from the labia majora." "" @@ -2821,7 +2821,7 @@ "Pthirus pubis infestation" "Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects." "" "lice infestation" "A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash." "" "plantar wart" "A wart in the plantar surface of the foot. It is caused by human papillomavirus." "" - "foot disorder" "A disease or disorder that involves the pes." "" + "foot disorder" "A disease or disorder that involves the pes." "True" "primary viral infectious disease" "The initial viral infectious disase that causes illness." "" "obsolete epidermodysplasia verruciformis" "" "true" "chancroid" "Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery." "" @@ -5883,7 +5883,7 @@ "gestational uterine corpus choriocarcinoma" "A gestational choriocarcinoma that involves the body of uterus." "" "uterine corpus choriocarcinoma" "An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected." "" "malignant germ cell tumor of corpus uteri" "A malignant germ cell tumor that involves the body of uterus." "" - "mediastinal disorder" "A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma." "" + "mediastinal disorder" "A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma." "True" "testicular yolk sac tumor, papillary pattern" "A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli." "" "testicular yolk sac tumor, hepatoid pattern" "A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections." "" "myotonic cataract" "A cataract occurring as a sequela of myotonic dystrophy." "" @@ -6348,7 +6348,7 @@ "HIV infectious disease" "An infection caused by the human immunodeficiency virus." "" "Hodgkins lymphoma" "Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes." "" "obsolete malt lymphoma" "" "true" - "metabolic syndrome" "A combination of medical conditions that, when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose." "" + "metabolic syndrome" "A combination of medical conditions that, when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose." "True" "metastatic prostate carcinoma" "A carcinoma that arises from the prostate gland and has spread to other anatomic sites." "" "mucin-producing carcinoma" "" "lip and oral cavity squamous cell carcinoma" "A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes." "" @@ -6956,7 +6956,7 @@ "composite lymphoma" "Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site." "" "congenital diaphragmatic hernia" "Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality." "" "non-syndromic diaphragmatic or abdominal wall malformation" "A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome." "" - "non-syndromic diaphragmatic or thoracic malformation" "" + "non-syndromic diaphragmatic or thoracic malformation" "True" "congenital nystagmus" "Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)" "" "infectious embryofetopathy" "" "congenital toxoplasmosis" "Toxoplasma infection that is present from birth." "" @@ -8867,7 +8867,7 @@ "obsolete egasyn" "" "true" "Ehlers-Danlos syndrome, classic type" "Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." "" "syndromic diaphragmatic or abdominal wall malformation" "A diaphragmatic or abdominal wall malformation that is part of a larger syndrome." "" - "syndromic diaphragmatic or thoracic malformation" "" + "syndromic diaphragmatic or thoracic malformation" "True" "Ehlers-Danlos syndrome" "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility." "" "Ehlers-Danlos syndrome, hypermobility type" "Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." "" "autosomal dominant Ehlers-Danlos syndrome, vascular type" "The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." "" @@ -11661,7 +11661,7 @@ "musk, inability to smell" "" "myasthenia, congenital, refractory to acetylcholinesterase inhibitors" "" "immune-mediated acquired neuromuscular junction disease" "" - "channelopathy" "A disease caused by disturbed function of ion channel subunits or the proteins that regulate them." "" + "channelopathy" "A disease caused by disturbed function of ion channel subunits or the proteins that regulate them." "True" "congenital myasthenic syndrome 6" "Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner." "" "presynaptic congenital myasthenic syndrome" "" "congenital myasthenic syndrome 10" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene." "" @@ -15529,7 +15529,7 @@ "CLAPO syndrome" "CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." "" "obsolete Bartter syndrome, type 4B" "" "true" "asphyxiating thoracic dystrophy 3" "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22." "" - "short rib-polydactyly syndrome, Verma-Naumoff type" "Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period." "" + "short rib-polydactyly syndrome, Verma-Naumoff type" "Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period." "True" "familial juvenile hyperuricemic nephropathy type 2" "Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." "" "cone dystrophy 4" "Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene." "" "isolated microphthalmia 4" "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene." "" @@ -16589,7 +16589,7 @@ "Perrault syndrome 4" "Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene." "" "oculocutaneous albinism type 5" "Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." "" "TCF12-related craniosynostosis" "Any craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene." "" - "autosomal recessive limb-girdle muscular dystrophy type 2R" "Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported." "" + "autosomal recessive limb-girdle muscular dystrophy type 2R" "Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported." "True" "Dowling-Degos disease 2" "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene." "" "hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome" "" "multiple mitochondrial dysfunctions syndrome 3" "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene." "" @@ -16724,7 +16724,7 @@ "melioidosis, susceptibility to" "" "melioidosis" "An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration." "" "familial hypobetalipoproteinemia 1" "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene." "" - "autoimmune lymphoproliferative syndrome type 3" "A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." "True" + "obsolete autoimmune lymphoproliferative syndrome type 3" "OBSOLETE. A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." "" "true" "otofaciocervical syndrome 2" "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene." "" "complement factor b deficiency" "" "retinitis pigmentosa 67" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene." "" @@ -17565,7 +17565,7 @@ "renin-angiotensin-aldosterone system-blocker-induced angioedema" "Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" "obsolete Waterhouse-Friderichsen syndrome" "" "true" "mosaic trisomy 3" "Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities." "" - "total autosomal trisomy" "" + "total autosomal trisomy" "True" "chromosome 3 disorder" "Chromosomal disorder in which chromosome 3 is affected." "" "neurogenic thoracic outlet syndrome" "Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS." "" "appendix neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" @@ -18985,7 +18985,7 @@ "obsolete partial deletion of the long arm of chromosome 18" "" "true" "obsolete partial deletion of the long arm of chromosome 22" "" "true" "partial duplication of chromosome 1" "" - "partial autosomal trisomy/tetrasomy" "" + "partial autosomal trisomy/tetrasomy" "True" "partial duplication of chromosome 2" "" "partial duplication of chromosome 3" "" "partial duplication of chromosome 4" "" @@ -19897,7 +19897,7 @@ "attenuated Chédiak-Higashi syndrome" "Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." "" "minimal pigment oculocutaneous albinism type 1" "Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." "" "temperature-sensitive oculocutaneous albinism type 1" "Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." "" - "ocular albinism with congenital sensorineural hearing loss" "" + "ocular albinism with congenital sensorineural hearing loss" "True" "obsolete scleredema" "" "true" "obsolete burning mouth syndrome" "" "true" "pyruvate carboxylase deficiency, infantile form" "Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." "" @@ -21558,7 +21558,7 @@ "complex regional pain syndrome type 2" "Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area." "" "obsolete vitamin D deficiency" "OBSOLETE. Abnormally low level of 25-hydroxyvitamin D in the blood." "" "true" "benign uterine ligament neoplasm" "A non-metastasizing neoplasm that arises from the uterine ligament." "" - "disorder of retroperitoneum" "A disease or disorder that involves the retroperitoneal space." "" + "disorder of retroperitoneum" "A disease or disorder that involves the retroperitoneal space." "True" "angiokeratoma of scrotum" "An angiokeratoma that is located on the scrotum." "" "acute pharyngitis" "An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache." "" "Simpson-Golabi-Behmel syndrome type 1" "Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene." "" @@ -24971,6 +24971,8 @@ "testicular regression syndrome" "A developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development." "" "benign paroxysmal positional vertigo" "Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed." "" "vertigo, benign recurrent, 1" "" + "type 3 autoimmune lymphoproliferative syndrome" "A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." "" + "autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD" "Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene." "" "obsolete morphological anomaly" "" "true" "obsolete subtype of a disorder" "" "true" "obsolete malformation syndrome" "" "true" diff --git a/src/ontology/reports/mondo_base_last_release-report.tsv b/src/ontology/reports/mondo_base_last_release-report.tsv index 2c1955b594..782c5af55a 100644 --- a/src/ontology/reports/mondo_base_last_release-report.tsv +++ b/src/ontology/reports/mondo_base_last_release-report.tsv @@ -162,7 +162,9 @@ "obsolete cortical dysplasia, complex, with other brain malformations" "" "true" "obsolete diarrhea, congenital" "" "true" "reticulate pigment disorder" "" - "pigmentation disease" "" + "pigmentation disease" "True" + "skin pigmentation disorder" "A pigmentation disease that involves the zone of skin." "" + "genetic skin disease" "An instance of skin disease that is caused by a modification of the individual's genome." "" "congenital heart defects, multiple types" "" "congenital heart disease" "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale." "" "obsolete ectopia lentis, isolated" "" "true" @@ -254,19 +256,18 @@ "coloboma" "An abnormality in which a part of a structure in one or both eyes is missing." "" "isolated anophthalmia-microphthalmia syndrome" "Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit." "" "muscular dystrophy-dystroglycanopathy, type A" "" + "developmental anomaly of metabolic origin" "" "qualitative or quantitative defects of FKRP" "" "qualitative or quantitative defects of protein O-mannosyltransferase 1" "" "qualitative or quantitative defects of protein O-mannosyltransferase 2" "" "disorder of O-mannosylglycan synthesis" "" - "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies" "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy." "True" - "congenital disorder of glycosylation with neurological involvement" "True" - "congenital disorder of glycosylation with developmental anomaly" "True" - "congenital vitreoretinal dysplasia" "" - "myopathy with eye involvement" "True" + "muscular dystrophy-dystroglycanopathy" "" + "cobblestone lissencephaly" "Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent." "" + "neurometabolic disease" "" + "congenital vitreoretinal dysplasia" "True" "myopathy caused by variation in FKRP" "Any myopathy in which the cause of the disease is a variation in the FKRP gene." "" "myopathy caused by variation in POMGNT1" "Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene." "" "muscular dystrophy-dystroglycanopathy, type B" "" - "muscular dystrophy-dystroglycanopathy" "" "muscular dystrophy-dystroglycanopathy, type C" "" "obsolete split-hand/foot malformation with long bone deficiency" "" "true" "obsolete ataxia-telangiectasia-like disorder" "" "true" @@ -276,9 +277,7 @@ "Neu-Laxova syndrome" "Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." "" "lissencephaly type 3" "" "multiple congenital anomalies/dysmorphic syndrome-intellectual disability" "" - "developmental anomaly of metabolic origin" "" - "autosomal ichthyosis syndrome with prominent neurologics signs" "True" - "autosomal ichthyosis syndrome with fatal disease course" "True" + "autosomal ichthyosis syndrome" "" "3-phosphoglycerate dehydrogenase deficiency" "" "genetic multiple congenital anomalies/dysmorphic syndrome" "An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome." "" "obsolete inflammatory skin and bowel disease, neonatal" "" "true" @@ -292,7 +291,6 @@ "obsolete spondyloepimetaphyseal dysplasia with joint laxity" "" "true" "obsolete ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome" "" "true" "GLUT1 deficiency syndrome" "" - "neurometabolic disease" "" "glucose transport disorder" "An acquired metabolic disease that is has its basis in the disruption of glucose transport." "" "metabolic epilepsy" "Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy." "" "obsolete Schindler disease" "" "true" @@ -392,7 +390,7 @@ "tinea imbricata" "A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition." "" "tinea corporis" "A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin." "" "obsolete la Crosse encephalitis" "" "true" - "obsolete hemophagocytic lymphohistiocytosis" "A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia." "" "true" + "obsolete hemophagocytic lymphohistiocytosis" "OBSOLETE. A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia." "" "true" "dengue shock syndrome" "A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth." "" "Dengue hemorrhagic fever" "A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death." "" "secretory diarrhea" "Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption." "" @@ -443,7 +441,7 @@ "Kunjin virus infectous disease" "" "West-Nile encephalitis" "An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis." "" "obsolete tick-borne encephalitis" "" "true" - "obsolete monogenic disease" "A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele)." "" "true" + "obsolete monogenic disease" "OBSOLETE. A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele)." "" "true" "Powassan encephalitis" "A disease caused by infection with Powassan virus." "" "Flaviviridae infectious disease" "Infections with viruses of the family flaviviridae." "" "viral encephalitis" "Encephalitis resulting from viral infection." "" @@ -523,7 +521,7 @@ "tularemia" "Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics." "" "lymph node disorder" "Any disorder of the lymph nodes." "" "typhoidal tularemia" "A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss." "" - "obsolete Carrion disease" "A disease caused by infection with Bartonella bacilliformis." "" "true" + "obsolete Carrion disease" "OBSOLETE. A disease caused by infection with Bartonella bacilliformis." "" "true" "obsolete familial adenomatous polyposis" "" "true" "obsolete familial partial lipodystrophy" "" "true" "obsolete pachyonychia congenita" "" "true" @@ -839,12 +837,13 @@ "syndromic disease" "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition." "" "inclusion myopathy" "" "frontotemporal dementia" "Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy." "" - "primary bone dysplasia with disorganized development of skeletal components" "True" + "obsolete primary bone dysplasia with disorganized development of skeletal components" "" "true" "intellectual disability" "A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group." "" "has a syndromic presentation" "An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features." "" "non-syndromic intellectual disability" "An intellectual disability that is not part of a larger syndrome." "" "synucleinopathy" "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" "" "neurodegenerative disease" "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function." "" + "proteostasis deficiencies" "Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins." "" "obsolete gallbladder adenoma" "" "true" "obsolete ameloblastoma" "" "true" "bone ameloblastoma" "A ameloblastoma that involves the bone tissue." "" @@ -881,7 +880,7 @@ "cecum villous adenoma" "A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." "" "cecal neoplasm" "A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." "" "villous adenoma of colon" "A villous adenoma that involves the colon." "" - "obsolete appendix carcinoid tumor" "A carcinoid tumor (disease) that involves the vermiform appendix." "" "true" + "obsolete appendix carcinoid tumor" "OBSOLETE. A carcinoid tumor (disease) that involves the vermiform appendix." "" "true" "colon adenoma" "An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." "" "colorectal adenoma" "An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis." "" "epithelial tumor of colon" "A epithelial neoplasm that involves the colon." "" @@ -1029,7 +1028,7 @@ "obsolete autonomic peripheral neuropathy" "" "true" "hypersensitivity reaction disease" "An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system." "" "immune system disorder" "A disorder resulting from an abnormality in the immune system." "" - "obsolete gluten allergy" "A allergy involving gluten." "" "true" + "obsolete gluten allergy" "OBSOLETE. A allergy involving gluten." "" "true" "primary cutaneous T-cell non-Hodgkin lymphoma" "A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma." "" "primary cutaneous lymphoma" "Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities." "" "familial juvenile hyperuricemic nephropathy" "" @@ -1087,7 +1086,7 @@ "central nervous system primitive neuroectodermal neoplasm" "A neuroectodermal tumor that involves the central nervous system." "" "primitive neuroectodermal tumor" "A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors." "" "central nervous system cancer" "A malignant neoplasm involving the central nervous system" "" - "obsolete cerebellar medulloblastoma" "A cerebellum cancer that begins in the lower part of the brain on the floor of the skull." "" "true" + "obsolete cerebellar medulloblastoma" "OBSOLETE. A cerebellum cancer that begins in the lower part of the brain on the floor of the skull." "" "true" "brain meningioma" "A meningioma (disease) that involves the brain." "" "meningioma" "A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)" "" "brain neoplasm" "A neoplasm (disease) that involves the brain." "" @@ -1230,7 +1229,6 @@ "obsolete oculodentodigital dysplasia" "" "true" "dyschromatosis universalis hereditaria" "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution." "" "hyperpigmentation of the skin" "" - "genetic skin disease" "An instance of skin disease that is caused by a modification of the individual's genome." "" "obsolete megalocornea" "" "true" "obsolete syndromic X-linked intellectual disability" "" "true" "uvulitis" "Inflammation of the uvula." "" @@ -1249,8 +1247,8 @@ "respiratory tract infectious disorder" "Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases." "" "cardiac arrest" "Cessation of breathing and/or cardiac function." "" "congestive heart failure" "Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales." "" - "obsolete inguinal hernia" "The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region." "" "true" - "obsolete umbilical hernia" "A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac." "" "true" + "obsolete inguinal hernia" "OBSOLETE. The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region." "" "true" + "obsolete umbilical hernia" "OBSOLETE. A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac." "" "true" "mastoiditis" "Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process." "" "bone inflammation disease" "Inflammation of the bone." "" "breast abscess" "A breast disease characterized by a collection of pus in the breast." "" @@ -1291,48 +1289,48 @@ "allergic disease" "An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures." "" "shellfish allergy" "Allergic reaction to shellfish or shellfish products." "" "allergic respiratory disease" "A respiratory system disease with a basis in a pathological type I hypersensitivity reaction." "" - "obsolete pollen allergy" "A allergy involving pollen." "" "true" - "obsolete Timothy grass allergy" "A allergy involving a Phleum pratense." "" "true" + "obsolete pollen allergy" "OBSOLETE. A allergy involving pollen." "" "true" + "obsolete Timothy grass allergy" "OBSOLETE. A allergy involving a Phleum pratense." "" "true" "autoimmune neuropathy" "An autoimmune form of peripheral neuropathy." "" "peripheral neuropathy" "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs." "" "drug allergy" "Immunologically mediated adverse reactions to medicinal substances used legally or illegally." "" - "obsolete metal allergy" "A allergy involving a metal allergen." "" "true" + "obsolete metal allergy" "OBSOLETE. A allergy involving a metal allergen." "" "true" "gastrointestinal allergy" "A allergic disease that involves the digestive tract." "" "fruit allergy" "A food allergy triggered by a plant fruit product." "" - "obsolete apple allergy" "A allergy involving a Malus domestica." "" "true" - "obsolete apricot allergy" "A allergy involving a Prunus armeniaca." "" "true" + "obsolete apple allergy" "OBSOLETE. A allergy involving a Malus domestica." "" "true" + "obsolete apricot allergy" "OBSOLETE. A allergy involving a Prunus armeniaca." "" "true" "cherry allergy" "A fruit allergy triggered by Prunus avium plant fruit food product." "" "Indian plum allergy" "A fruit allergy triggered by Ziziphus mauritiana plant fruit food product." "" "orange allergy" "A fruit allergy triggered by Citrus sinensis plant fruit food product." "" "melon allergy" "A fruit allergy triggered by Cucumis melo plant fruit food product." "" - "obsolete peach allergy" "A allergy involving a Prunus persica." "" "true" - "obsolete plum allergy" "A allergy involving a Prunus domestica." "" "true" - "obsolete tomato allergy" "A allergy involving a Solanum lycopersicum." "" "true" - "obsolete fish allergy" "A allergy involving fish." "" "true" - "obsolete Atlantic cod allergy" "A allergy involving a Gadus morhua." "" "true" - "obsolete Atlantic salmon allergy" "A allergy involving a Salmo salar." "" "true" - "obsolete carp allergy" "A allergy involving a Cyprinus carpio." "" "true" + "obsolete peach allergy" "OBSOLETE. A allergy involving a Prunus persica." "" "true" + "obsolete plum allergy" "OBSOLETE. A allergy involving a Prunus domestica." "" "true" + "obsolete tomato allergy" "OBSOLETE. A allergy involving a Solanum lycopersicum." "" "true" + "obsolete fish allergy" "OBSOLETE. A allergy involving fish." "" "true" + "obsolete Atlantic cod allergy" "OBSOLETE. A allergy involving a Gadus morhua." "" "true" + "obsolete Atlantic salmon allergy" "OBSOLETE. A allergy involving a Salmo salar." "" "true" + "obsolete carp allergy" "OBSOLETE. A allergy involving a Cyprinus carpio." "" "true" "obsolete zebrafish allergy" "" "true" - "obsolete rainbow trout allergy" "A allergy involving a Oncorhynchus mykiss." "" "true" - "obsolete beta-lactam allergy" "A allergy involving a beta-lactam." "" "true" - "obsolete penicillin allergy" "An allergy to Penicillin." "" "true" - "obsolete cow milk allergy" "A allergy involving cow mile." "" "true" - "obsolete goat milk allergy" "A allergy involving goat milk." "" "true" - "obsolete mollusc allergy" "A allergic disease involving a mollusc food product." "" "true" - "obsolete crustacean allergy" "A allergic disease involving a crustacean food product." "" "true" - "obsolete brown shrimp allergy" "A allergic disease involving a brown shrimp." "" "true" - "obsolete green mud crab allergy" "A allergic disease involving a green mud crab." "" "true" - "obsolete Indian prawn allergy" "A allergic disease involving a Indian prawn." "" "true" - "obsolete tiger prawn allergy" "A allergy involving a Penaeus monodon." "" "true" - "obsolete white shrimp allergy" "A allergy involving a Litopenaeus schmitti." "" "true" - "obsolete snail allergy" "A allergic disease involving a snail food product." "" "true" - "obsolete horned turban snail allergy" "A allergy involving a Turbo cornutus." "" "true" + "obsolete rainbow trout allergy" "OBSOLETE. A allergy involving a Oncorhynchus mykiss." "" "true" + "obsolete beta-lactam allergy" "OBSOLETE. A allergy involving a beta-lactam." "" "true" + "obsolete penicillin allergy" "OBSOLETE. An allergy to Penicillin." "" "true" + "obsolete cow milk allergy" "OBSOLETE. A allergy involving cow mile." "" "true" + "obsolete goat milk allergy" "OBSOLETE. A allergy involving goat milk." "" "true" + "obsolete mollusc allergy" "OBSOLETE. A allergic disease involving a mollusc food product." "" "true" + "obsolete crustacean allergy" "OBSOLETE. A allergic disease involving a crustacean food product." "" "true" + "obsolete brown shrimp allergy" "OBSOLETE. A allergic disease involving a brown shrimp." "" "true" + "obsolete green mud crab allergy" "OBSOLETE. A allergic disease involving a green mud crab." "" "true" + "obsolete Indian prawn allergy" "OBSOLETE. A allergic disease involving a Indian prawn." "" "true" + "obsolete tiger prawn allergy" "OBSOLETE. A allergy involving a Penaeus monodon." "" "true" + "obsolete white shrimp allergy" "OBSOLETE. A allergy involving a Litopenaeus schmitti." "" "true" + "obsolete snail allergy" "OBSOLETE. A allergic disease involving a snail food product." "" "true" + "obsolete horned turban snail allergy" "OBSOLETE. A allergy involving a Turbo cornutus." "" "true" "latex allergy" "Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein." "" "obsolete hepatoid adenocarcinoma" "" "true" "purpura fulminans" "A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation." "" "disseminated intravascular coagulation" "A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage." "" "purpura" "A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color." "" - "obsolete DMD-related dilated cardiomyopathy" "A dilated cardiomyopathy that has material basis in mutations in the DMD gene." "" "true" + "obsolete DMD-related dilated cardiomyopathy" "OBSOLETE. A dilated cardiomyopathy that has material basis in mutations in the DMD gene." "" "true" "anomalous left coronary artery from the pulmonary artery" "A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life." "" "congenital coronary artery anomaly" "" "cardiac tuberculosis" "Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium." "" @@ -1367,12 +1365,12 @@ "obsolete myeloid neoplasm" "" "true" "bone remodeling disease" "A bone disease that results in formation or resorption abnormalities located in bone." "" "bone disorder" "Diseases of bones." "" - "obsolete bone deterioration disease" "A bone structure disease that results in change or damage of structure located in bone." "" "true" + "obsolete bone deterioration disease" "OBSOLETE. A bone structure disease that results in change or damage of structure located in bone." "" "true" "obsolete ischemic bone disease" "" "true" "disease of bone structure" "" "bone resorption disease" "A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products." "" "obsolete chromosomal disease" "" "true" - "obsolete congenital abnormality" "Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period." "" "true" + "obsolete congenital abnormality" "OBSOLETE. Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period." "" "true" "dysbaric osteonecrosis" "A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism." "" "avascular necrosis" "Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure." "" "obsolete metaphyseal dysplasia" "" "true" @@ -1394,8 +1392,7 @@ "obsolete Stickler syndrome" "" "true" "obsolete acromesomelic dysplasia" "" "true" "obsolete Charcot-Marie-Tooth disease type 6" "" "true" - "obsolete Charcot-Marie-Tooth disease type 7" "A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa." "" "true" - "Charcot-Marie-Tooth disease" "An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs." "" + "obsolete Charcot-Marie-Tooth disease type 7" "OBSOLETE. A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa." "" "true" "neuronal intestinal dysplasia" "" "colonic disorder" "Pathological processes in the colon region of the large intestine (intestine, large)." "" "spina bifida occulta" "The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic." "" @@ -1405,7 +1402,6 @@ "obsolete reducing body myopathy" "" "true" "myopathy, lactic acidosis, and sideroblastic anemia" "Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy." "" "inborn mitochondrial myopathy" "Myopathy caused by mitochondrial abnormalities." "" - "mitochondrial disorder due to a defect in mitochondrial protein synthesis" "True" "inherited sideroblastic anemia" "" "obsolete congenital myopathy" "" "true" "obsolete congenital fiber-type disproportion" "" "true" @@ -1491,7 +1487,7 @@ "retinitis pigmentosa 6" "A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2." "" "retinitis pigmentosa" "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." "" "X-linked recessive disease" "X-linked recessive form of disease." "" - "obsolete dilated cardiomyopathy 1T" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene." "" "true" + "obsolete dilated cardiomyopathy 1T" "OBSOLETE. Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene." "" "true" "autosomal recessive nonsyndromic hearing loss 5" "An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12." "" "hearing loss, autosomal recessive" "Autosomal recessive form of nonsyndromic deafness." "" "hereditary spherocytosis type 2" "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene." "" @@ -1649,7 +1645,7 @@ "acute subendocardial myocardial infarction" "Acute form of subendocardial myocardial infarction." "" "subendocardial myocardial infarction" "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart." "" "acute myocardial infarction" "Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations." "" - "obsolete left bundle branch block" "A bundle branch block in which the activation of the left ventricle is delayed." "" "true" + "obsolete left bundle branch block" "OBSOLETE. A bundle branch block in which the activation of the left ventricle is delayed." "" "true" "prostate squamous cell carcinoma" "An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation." "" "prostate carcinoma" "A carcinoma that arises from epithelial cells of the prostate gland." "" "malignant prostate phyllodes tumor" "An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia." "" @@ -1699,7 +1695,7 @@ "pneumonic plague" "A plague in which the bacteria have infected the lungs." "" "plague" "Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis." "" "seminal vesicle chronic gonorrhea" "Chronic form of gonococcal seminal vesiculitis." "" - "obsolete bacterial infectious disease" "A infectious disease involving the Bacteria." "" "true" + "obsolete bacterial infectious disease" "OBSOLETE. A infectious disease involving the Bacteria." "" "true" "gonorrhea" "A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease." "" "vesiculitis" "An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle." "" "acute pericementitis" "An acute inflammatory process that affects the tissues that surround and support the teeth." "" @@ -1958,7 +1954,6 @@ "esophageal neuroendocrine tumor" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus." "" "digestive system melanoma" "A melanoma that arises from any part of the digestive system." "" "obsolete chorioretinal scar" "" "true" - "retinal disorder" "Any disease or disorder of the retina." "" "obsolete rickettsialpox" "" "true" "Rickettsiaceae infectious disease" "Infections with bacteria of the family rickettsiaceae." "" "psychologic dyspareunia" "" @@ -2053,7 +2048,7 @@ "obsolete solar retinopathy" "" "true" "obsolete peripheral scars of retina" "" "true" "ventilation pneumonitis" "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease." "" - "extrinsic allergic alveolitis" "An inflammatory interstitial lung disease caused by hypersensitivity reaction to inhalation or ingestion of antigens. The antigens are usually related to the patient's occupation. It can present as an acute illness with flu-like symptoms, subacute with repeated episodes of pneumonia, or chronic with dyspnea and productive cough. The majority of patients recover following the cessation of the exposure to the antigen that causes the disease. Chronic exposure may eventually progress to interstitial lung fibrosis." "" + "extrinsic allergic alveolitis" "An inflammatory interstitial lung disease caused by hypersensitivity reaction to inhalation or ingestion of antigens. The antigens are usually related to the patient's occupation. It can present as an acute illness with flu-like symptoms, subacute with repeated episodes of pneumonia, or chronic with dyspnea and productive cough. The majority of patients recover following the cessation of the exposure to the antigen that causes the disease. Chronic exposure may eventually progress to interstitial lung fibrosis." "True" "arteriovenous hemangioma/malformation" "A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures." "" "retinal microaneurysm" "" "retinal vascular disorder" "Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage." "" @@ -2094,7 +2089,7 @@ "cerebral arteritis" "An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery." "" "central nervous system vasculitis" "Vasculitis affecting the blood vessels of the brain and/or spinal cord." "" "arteritis" "An inflammatory process affecting an artery." "" - "obsolete adult respiratory distress syndrome" "A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA." "" "true" + "obsolete adult respiratory distress syndrome" "OBSOLETE. A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA." "" "true" "spinal cord cancer" "A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma." "" "choroiditis" "An inflammatory process that affects the choroid." "" "optic choroid disorder" "A disease involving the optic choroid." "" @@ -2228,7 +2223,7 @@ "ocular hypotension" "Abnormally low intraocular pressure often related to chronic inflammation (uveitis)." "" "spontaneous ocular nystagmus" "Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)" "" "pathologic nystagmus" "Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders." "" - "obsolete leukocoria" "An abnormal white reflection from the retina of the eye." "" "true" + "obsolete leukocoria" "OBSOLETE. An abnormal white reflection from the retina of the eye." "" "true" "blind hypertensive eye" "" "regular astigmatism" "" "astigmatism" "Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)" "" @@ -2351,7 +2346,7 @@ "tympanosclerosis" "The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing." "" "tympanic membrane disorder" "A disease involving the tympanic membrane." "" "Chagas disease" "A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias." "" - "obsolete neurogenic bladder" "Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy)." "" "true" + "obsolete neurogenic bladder" "OBSOLETE. Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy)." "" "true" "low compliance bladder" "" "urinary bladder disorder" "A disease involving the urinary bladder." "" "detrusor sphincter dyssynergia" "" @@ -2423,7 +2418,7 @@ "kyphoscoliotic heart disease" "" "chronic pulmonary heart disease" "Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure." "" "cor pulmonale" "Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism." "" - "obsolete transvestism" "A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing." "" "true" + "obsolete transvestism" "OBSOLETE. A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing." "" "true" "hematocele of tunica vaginalis testis" "Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele." "" "male genital organ stricture" "" "male genital organ vascular disease" "" @@ -2480,6 +2475,7 @@ "epididymitis" "Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord." "" "male genital tuberculosis" "Mycobacterium infections of the male reproductive tract (genitalia, male)." "" "retinal ischemia" "A ischemic disease that involves the retina." "" + "retinal disorder" "Any disease or disorder of the retina." "" "neurovascular disorder" "A disorder of the nervous system related to a vascular etiology." "" "retinal perforation" "A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters." "" "retinal detachment" "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision." "" @@ -2555,8 +2551,6 @@ "hallucinogen abuse" "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences." "" "mucopolysaccharidosis type 1" "The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome)." "" "mucopolysaccharidosis" "A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies." "" - "lysosomal storage disease with skeletal involvement" "True" - "metabolic disease with corneal opacity" "True" "obsolete eyebrow hypertrophy" "" "true" "obsolete mucopolysaccharidosis type 4" "" "true" "chronic lacrimal gland enlargement" "" @@ -2567,7 +2561,6 @@ "Achilles bursitis" "An bursitis involving a pathogenic inflammatory response in the calcaneal tendon." "" "skeletal ligament disorder" "A disease or disorder that involves the skeletal ligament." "" "choreatic disease" "A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease." "" - "neurodegenerative disease with chorea" "True" "Huntington disease-like syndrome" "" "hypochondriasis" "A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis." "" "submandibular gland disorder" "A disease involving the submandibular gland." "" @@ -2728,7 +2721,7 @@ "cardiac sarcoidosis" "Sarcoidosis affecting the tissues of the heart." "" "non-familial restrictive cardiomyopathy" "" "pulmonary sarcoidosis" "Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss." "" - "secondary interstitial lung disease specific to adulthood associated with a systemic disease" "True" + "interstitial lung disease specific to adulthood" "" "hypercalcemic sarcoidosis" "Sarcoidosis with a complication of hypercalcemia." "" "perforation of bile duct" "A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes." "" "bile duct disorder" "A disease involving the bile duct." "" @@ -2871,7 +2864,7 @@ "anterior scleritis" "" "female breast central part cancer" "" "squamous cell neoplasm" "A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example." "" - "obsolete familial combined hyperlipidemia" "A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1." "" "true" + "obsolete familial combined hyperlipidemia" "OBSOLETE. A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1." "" "true" "chronic subinvolution of uterus" "" "adhesions of uterus" "" "hypoglossal nerve disorder" "A disease involving the hypoglossal nerve." "" @@ -3047,7 +3040,7 @@ "mixed malaria" "A malaria that involves infection with more than one species of Plasmodium at the same time." "" "postencephalitic Parkinson disease" "A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism." "" "secondary Parkinson disease" "A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication." "" - "parkinsonian syndrome due to neurodegenerative disease" "True" + "parkinsonian disorder" "A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA." "" "hyperestrogenism" "Abnormally high level of estrogen." "" "suppurative thyroiditis" "Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis." "" "thyroiditis" "Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis." "" @@ -3147,7 +3140,7 @@ "obsolete Blount disease" "" "true" "periodontal disorder" "An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support." "" "mouth mucosa disorder" "A disease or disorder that involves the mouth mucosa." "" - "obsolete sensory system disease" "A disease involving the sensory system." "" "true" + "obsolete sensory system disease" "OBSOLETE. A disease involving the sensory system." "" "true" "obsolete cystic echinococcosis" "" "true" "obsolete cholera" "" "true" "avoidant personality disorder" "A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection." "" @@ -3313,7 +3306,7 @@ "neuroma" "A tumor that grows from a nerve or is composed of nerve cells and nerve fibers." "" "nerve sheath neoplasm" "A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor." "" "preretinal fibrosis" "A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)" "" - "obsolete connective tissue cancer" "A malignant neoplasm involving the connective tissue" "" "true" + "obsolete connective tissue cancer" "OBSOLETE. A malignant neoplasm involving the connective tissue" "" "true" "hyperinsulinism" "Abnormally high levels of insulin in the blood." "" "placenta cancer" "A malignant neoplasm involving the placenta." "" "placenta neoplasm" "A neoplasm (disease) that involves the placenta." "" @@ -3636,7 +3629,6 @@ "syndromic palpebral coloboma" "" "eyelids malposition disorder" "" "malposition of external canthus" "" - "syndrome with a symptomatic strabismus" "True" "genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability" "An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome." "" "obsolete eyebrow/eyelashes distichiasis" "" "true" "obsolete acute pancreatitis" "" "true" @@ -3681,7 +3673,7 @@ "colorectal signet ring cell carcinoma" "An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate." "" "submucosal invasive colon adenocarcinoma" "An adenocarcinoma of the colon that has invaded into the submucosa." "" "invasive carcinoma" "A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma." "" - "obsolete food allergy" "Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." "" "true" + "obsolete food allergy" "OBSOLETE. Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food." "" "true" "obsolete glioblastoma multiforme" "" "true" "obsolete astrocytoma" "" "true" "obsolete gliosarcoma" "" "true" @@ -3700,7 +3692,7 @@ "stomatitis" "Inflammation of the oral mucosa due to local or systemic factors." "" "non-specific granulomatous orchitis" "Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena." "" "orchitis" "Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation." "" - "obsolete germ cell and embryonal cancer" "Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus." "" "true" + "obsolete germ cell and embryonal cancer" "OBSOLETE. Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus." "" "true" "stenosis of lacrimal sac" "" "papillary adenocarcinoma" "A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma." "" "papillary carcinoma" "A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma." "" @@ -4016,7 +4008,7 @@ "plantar verrucous skin carcinoma" "A verrucous carcinoma that involves the plantar part of pes." "" "larynx verrucous carcinoma" "A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction." "" "laryngeal squamous cell carcinoma" "A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx." "" - "obsolete protein C deficiency" "A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism." "" "true" + "obsolete protein C deficiency" "OBSOLETE. A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism." "" "true" "true hermaphroditism" "A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia." "" "leukorrhea" "Whitish or yellowish mucosal vaginal discharge." "" "vaginal discharge" "Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer." "" @@ -4337,8 +4329,8 @@ "pediatric mesenchymal chondrosarcoma" "A mesenchymal chondrosarcoma occurring in children." "" "mesenchymal chondrosarcoma" "A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases." "" "adult mesenchymal chondrosarcoma" "A mesenchymal chondrosarcoma occurring in adults." "" - "obsolete extraskeletal mesenchymal chondrosarcoma" "A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage." "" "true" - "obsolete extraosseous chondrosarcoma" "A chondrosarcoma that is located in exclusively soft tissue." "" "true" + "obsolete extraskeletal mesenchymal chondrosarcoma" "OBSOLETE. A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage." "" "true" + "obsolete extraosseous chondrosarcoma" "OBSOLETE. A chondrosarcoma that is located in exclusively soft tissue." "" "true" "anal gland neoplasm" "Tumors or cancer of the anal gland." "" "thymic large cell neuroendocrine carcinoma" "An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis." "" "large cell neuroendocrine carcinoma" "A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." "" @@ -4430,7 +4422,7 @@ "testicular Leydig cell tumor" "A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics." "" "tumor of testis and paratestis" "" "breast hemangioma" "A capillary or cavernous hemangioma arising from the breast." "" - "embryoma" "True" + "obsolete embryoma" "" "true" "classic pulmonary blastoma" "A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements." "" "pulmonary blastoma" "A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic." "" "epithelial predominant pulmonary blastoma" "A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma." "" @@ -4460,7 +4452,7 @@ "obsolete adenosquamous carcinoma" "" "true" "disappearing bone disease" "Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal." "" "malignant myoepithelioma" "An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma." "" - "obsolete sebaceous carcinoma" "An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize." "" "true" + "obsolete sebaceous carcinoma" "OBSOLETE. An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize." "" "true" "obsolete benign ependymoma" "" "true" "obsolete pilomyxoid astrocytoma" "" "true" "cauda equina intradural extramedullary astrocytoma" "" @@ -4589,6 +4581,7 @@ "inner ear neoplasm" "A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma." "" "testicular infarct" "Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis." "" "swayback" "Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)" "" + "sheep disease" "Diseases of domestic and mountain sheep of the genus Ovis." "" "ovarian cystic teratoma" "A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst." "" "ovarian germ cell tumor" "A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma." "" "mature ovarian teratoma" "An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues." "" @@ -4812,7 +4805,7 @@ "ependymoma" "A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)" "" "Pediculus humanus capitis infestation" "A infectious disease involving Pediculus humanus capitis." "" "spinal cord ependymoma" "An ependymoma that arises from the spinal cord." "" - "malignant ependymoma" "A malignant form of ependymoma." "" + "malignant ependymoma" "A malignant form of ependymoma." "True" "ependymal tumor of spinal cord" "An ependymal tumor that arises from the spinal cord." "" "tanycytic ependymoma" "A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)" "" "papillary ependymoma" "A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)" "" @@ -4878,7 +4871,7 @@ "gastric neuroendocrine tumor, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach." "" "pancreatic gastrin-producing neuroendocrine tumor" "A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome." "" "obsolete lung giant cell carcinoma" "" "true" - "obsolete Ferguson-Smith tumor" "A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae." "" "true" + "obsolete Ferguson-Smith tumor" "OBSOLETE. A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae." "" "true" "Volkmann contracture" "An ischemic contracture of the forearm that most often occurs secondary to trauma." "" "acute pyelonephritis" "Sudden onset pyelonephritis." "" "aggressive digital papillary adenocarcinoma" "" @@ -4945,7 +4938,7 @@ "hereditary breast ovarian cancer syndrome" "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer." "" "familial ovarian cancer" "An instance of ovarian cancer that is caused by an inherited modification of the individual's genome." "" "hereditary breast carcinoma" "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." "" - "obsolete rare malignant breast tumor" "Any of the forms of breast cancer that have a rare incidence." "True" "true" + "obsolete rare malignant breast tumor" "OBSOLETE. Any of the forms of breast cancer that have a rare incidence." "True" "true" "obsolete atypical lipomatous tumor" "" "true" "cerebral cortex disorder" "A disease or disorder that involves the cerebral cortex." "" "adult liposarcoma" "A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma." "" @@ -4972,7 +4965,7 @@ "non-functioning pituitary gland neoplasm" "A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome." "" "non-functioning endocrine neoplasm" "A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome." "" "functioning endocrine neoplasm" "A hormone producing endocrine neoplasm, associated with a hormonal syndrome." "" - "obsolete adrenal neuroblastoma" "A neuroblastoma arising from the adrenal gland." "" "true" + "obsolete adrenal neuroblastoma" "OBSOLETE. A neuroblastoma arising from the adrenal gland." "" "true" "adrenal medulla cancer" "A malignant neoplasm involving the adrenal medulla" "" "adrenal medulla neoplasm" "A neoplasm (disease) that involves the adrenal medulla." "" "seminal vesicle cystadenoma" "A rare benign cystadenoma that arises from the seminal vesicle." "" @@ -5425,7 +5418,7 @@ "pineal region mature teratoma" "" "pineal region immature teratoma" "" "immature teratoma" "A teratoma composed of immature, fetal-type tissues." "" - "obsolete liver carcinoma" "A carcinoma that involves the liver." "" "true" + "obsolete liver carcinoma" "OBSOLETE. A carcinoma that involves the liver." "" "true" "oxyphilic endometrial endometrioid adenocarcinoma" "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells." "" "mediastinal gray zone lymphoma" "A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities." "" "parasagittal meningioma" "A meningioma that affects the superior sagittal sinus and invades the parasagittal angle." "" @@ -5824,7 +5817,7 @@ "luteoma of pregnancy" "A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required." "" "obsolete testicular spermatocytic seminoma" "" "true" "mite infestation" "Infestations with arthropods of the subclass acari, superorder Acariformes." "" - "obsolete adult extraosseous chondrosarcoma" "A extraosseous chondrosarcoma that occurs in an adult." "" "true" + "obsolete adult extraosseous chondrosarcoma" "OBSOLETE. A extraosseous chondrosarcoma that occurs in an adult." "" "true" "intracranial extraskeletal myxoid chondrosarcoma" "An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium." "" "extraskeletal myxoid chondrosarcoma" "A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs." "" "mixed astrocytoma-ependymoma" "A tumor of mixed cell type with astrocytic components as well as ependymoma components." "" @@ -5914,7 +5907,7 @@ "hypopharyngeal carcinoma" "Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx." "" "gallbladder lymphoma" "A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site." "" "thymus clear cell carcinoma" "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm." "" - "obsolete thymus sarcomatoid carcinoma" "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." "" "true" + "obsolete thymus sarcomatoid carcinoma" "OBSOLETE. A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." "" "true" "adrenal gland ganglioneuroblastoma" "A ganglioneuroblastoma arising from the adrenal gland." "" "adrenal gland neuroblastoma" "A neuroblastoma arising from the adrenal gland." "" "pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma" "A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years." "" @@ -6025,7 +6018,6 @@ "obsolete localized scleroderma" "" "true" "rheumatic myocarditis" "Inflammation of the myocardium in acute rheumatic heart disease." "" "rheumatoid arthritis" "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor." "" - "autoimmune myocarditis" "Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended." "" "transient retinal arterial occlusion" "A partial, temporary occlusion of the retinal artery." "" "maple bark strippers' lung" "" "hypersensitivity pneumonitis" "Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized." "" @@ -6084,8 +6076,7 @@ "subacute delirium" "" "delirium" "A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)" "" "tongue neoplasm" "A neoplasm (disease) that involves the tongue." "" - "obsolete Hodgkin's granuloma" "An obsolete term referring to Hodgkin lymphoma." "" "true" - "Hodgkins lymphoma" "Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes." "" + "obsolete Hodgkin's granuloma" "OBSOLETE. An obsolete term referring to Hodgkin lymphoma." "" "true" "Hodgkin's lymphoma, mixed cellularity" "A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)" "" "postcricoid region cancer" "A primary or metastatic malignant neoplasm that affects the postcricoid region." "" "hypopharynx cancer" "A primary or metastatic malignant neoplasm that affects the hypopharynx." "" @@ -6154,7 +6145,7 @@ "tonsillar fossa cancer" "A cancer involving a tonsillar fossa." "" "autosomal dominant polycystic kidney disease" "Autosomal dominant form of polycystic kidney disease." "" "polycystic kidney disease" "A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis." "" - "male infertility due to obstructive azoospermia of genetic origin" "True" + "genetic infertility" "Genetic infertility." "" "obsolete choledochal cyst" "" "true" "hepatopulmonary syndrome" "Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases." "" "liver lymphoma" "A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma." "" @@ -6201,7 +6192,6 @@ "obsolete Alagille syndrome" "" "true" "amino acid metabolism disease" "A disease that has its basis in the disruption of cellular amino acid metabolic process." "" "homocystinuria" "An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems." "" - "methylmalonic acidemia without homocystinuria" "Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." "True" "histidine metabolism disease" "A disease that has its basis in the disruption of histidine metabolic process." "" "urea cycle disorder" "A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body." "" "obsolete hyperlysinemia" "" "true" @@ -6234,7 +6224,7 @@ "status asthmaticus" "An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators." "" "orbital plasma cell granuloma" "A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis)." "" "exophthalmos" "The anterior displacement of the eye within the orbit, giving a bulging appearance." "" - "Fuchs' heterochromic uveitis" "A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface." "" + "Fuchs' heterochromic uveitis" "A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface." "True" "glaucomatocyclitic crisis" "" "iridocyclitis" "An inflammation of the iris and the ciliary body" "" "anterior uveitis" "Inflammation of the iris and anterior chamber of the eye." "" @@ -6354,7 +6344,6 @@ "lingual-facial-buccal dyskinesia" "Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." "" "toxic maculopathy" "" "intestinal disaccharidase deficiency" "Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age." "" - "metabolic disorder with intestinal involvement" "A metabolic disease that involves the intestine." "True" "obsolete hereditary fructose intolerance syndrome" "" "true" "hair anomaly" "" "obsolete galactosemia" "" "true" @@ -6403,6 +6392,7 @@ "indolent B-cell non-Hodgkin lymphoma" "" "susceptibility to HIV infection" "The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." "" "HIV infectious disease" "An infection caused by the human immunodeficiency virus." "" + "Hodgkins lymphoma" "Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes." "" "obsolete malt lymphoma" "" "true" "metabolic syndrome" "A combination of medical conditions that, when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose." "" "metastatic prostate carcinoma" "A carcinoma that arises from the prostate gland and has spread to other anatomic sites." "" @@ -6427,7 +6417,6 @@ "aortic stenosis" "In the same amount or manner; to the same degree; in the role, function, or capacity of." "" "atrial fibrillation" "A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)" "" "azoospermia" "Complete absence of spermatozoa in the semen." "" - "genetic infertility" "Genetic infertility." "" "basal-like breast carcinoma" "A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis." "" "triple-negative breast carcinoma" "An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2)." "" "breast tumor luminal A or B" "Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells." "" @@ -6448,7 +6437,7 @@ "inflammatory bowel disease" "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type." "" "melanocytic skin neoplasm" "A melanocytic neoplasm that involves the zone of skin." "" "dedifferentiated chondrosarcoma" "An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor." "" - "obsolete dermatomyositis" "Inflammation of the skin and muscle." "" "true" + "obsolete dermatomyositis" "OBSOLETE. Inflammation of the skin and muscle." "" "true" "diabetic kidney disease" "Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." "" "diffuse type adenocarcinoma" "An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma." "" "obsolete diffuse large B-cell lymphoma" "" "true" @@ -6504,7 +6493,6 @@ "stroke disorder" "A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event." "" "structural epilepsy" "Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy." "" "subarachnoid hemorrhage" "Intracranial hemorrhage into the subarachnoid space." "" - "autoimmune disease with skin involvement" "A hypersensitivity reaction type II disease that involves the skin of body." "True" "scleroderma" "Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc)." "" "secondary glomerular disease" "Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established." "" "autoimmune cardiomyopathy" "An autoimmune form of cardiomyopathy." "" @@ -6528,7 +6516,6 @@ "Enterococcus faecalis infection" "A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens." "" "Pectobacterium carotovorum infection" "A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as \"bacterial soft rot\" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems)." "" "obsolete Hibiscus chlorotic ringspot virus infection" "" "true" - "male infertility due to obstructive azoospermia" "True" "borderline leprosy" "A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms." "" "tuberculoid leprosy" "A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others." "" "lepromatous leprosy" "A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage." "" @@ -6550,7 +6537,7 @@ "diabetic ketoacidosis" "The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids." "" "pulmonary hypertension" "Increased pressure within the pulmonary circulation due to lung or heart disorder." "" "age-related macular degeneration" "Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." "" - "obsolete disease by anatomical system" "A disease that disrupts the functioning of an organ system." "" "true" + "obsolete disease by anatomical system" "OBSOLETE. A disease that disrupts the functioning of an organ system." "" "true" "hypopituitarism" "A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions." "" "cirrhosis of liver" "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." "" "obsolete coronary heart disease" "" "true" @@ -6559,13 +6546,12 @@ "obsolete influenza infection" "" "true" "simian immunodeficiency virus infection" "An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus." "" "osteoma" "A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course." "" - "obsolete chronic myeloproliferative disorder" "Chronic form of myeloproliferative neoplasm." "" "true" + "obsolete chronic myeloproliferative disorder" "OBSOLETE. Chronic form of myeloproliferative neoplasm." "" "true" "actinic keratosis" "A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants." "" "acute hypotension" "Acute form of hypotension (disease)." "" "aggressive insulitis" "Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." "" "benign insulitis" "A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation." "" "osteoarthritis" "A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity." "" - "parkinsonian disorder" "A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA." "" "chronic childhood arthritis" "An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system." "" "cocaine dependence" "A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance." "" "human herpesvirus 8 infection" "An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma." "" @@ -6580,7 +6566,7 @@ "Rotavirus infection" "Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice." "" "Reoviridae infectious disease" "Infections produced by reoviruses, general or unspecified." "" "septic peritonitis" "Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." "" - "obsolete teratozoospermia" "Presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" "" "true" + "obsolete teratozoospermia" "OBSOLETE. Presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" "" "true" "vulvar intraepithelial neoplasia" "Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type." "" "obsolete peripartum cardiomyopathy" "" "true" "viral dilated cardiomyopathy" "An dilated cardiomyopathy caused by infection with Viruses." "" @@ -6617,7 +6603,7 @@ "obsolete testicular seminoma" "" "true" "" "true" "placental villitis" "Inflammatory process that involves the chorionic villi (villitis) of the placenta." "" - "obsolete pauciarticular juvenile rheumatoid arthritis" "A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." "" "true" + "obsolete pauciarticular juvenile rheumatoid arthritis" "OBSOLETE. A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children." "" "true" "high output heart failure" "High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal." "" "symptomatic heart failure" "A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc" "" "mild heart failure" "Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity." "" @@ -6703,7 +6689,7 @@ "abdominal aortic aneurysm" "Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs." "" "anorexia nervosa" "A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea." "" "conduct disorder" "A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period." "" - "obsolete marijuana dependence" "The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." "" "true" + "obsolete marijuana dependence" "OBSOLETE. The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning." "" "true" "chronic hepatitis C virus infection" "Chronic form of hepatitis C infection." "" "coronary restenosis" "Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." "" "coronary stenosis" "Narrowing of the coronary artery lumen diameter." "" @@ -6728,7 +6714,7 @@ "pharynx neoplasm" "A neoplasm (disease) that involves the pharynx." "" "membranous glomerulonephritis" "A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome." "" "obsolete neuromyelitis optica" "" "true" - "obsolete rare rheumatologic disease" "Any of the forms of rheumatologic disorder that have a rare incidence." "True" "true" + "obsolete rare rheumatologic disease" "OBSOLETE. Any of the forms of rheumatologic disorder that have a rare incidence." "True" "true" "bone Paget disease" "A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue." "" "panic disorder" "An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia." "" "peripheral arterial disease" "A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest." "" @@ -6762,7 +6748,7 @@ "non-compaction cardiomyopathy" "Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." "" "metamphetamine dependence" "A drug dependence that is a psychological dependency on the regular use of metamphetamine." "" "obsolete infantile hypertrophic pyloric stenosis" "" "true" - "obsolete nodular sclerosis Hodgkin lymphoma" "A distinct, highly heritable Hodgkin lymphoma subtype." "" "true" + "obsolete nodular sclerosis Hodgkin lymphoma" "OBSOLETE. A distinct, highly heritable Hodgkin lymphoma subtype." "" "true" "obsolete pelvic organ prolapse" "" "true" "elephantiasis" "Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph." "" "lymphedema" "Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes." "" @@ -6882,14 +6868,13 @@ "cycloplegia" "Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." "" "lupus nephritis" "Glomerulonephritis in the context of systemic lupus erythematosus." "" "systemic lupus erythematosus" "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." "" - "autoimmune glomerulonephritis" "An autoimmune form of glomerulonephritis (disease)." "" "age-related hearing impairment" "Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males." "" "sensorineural hearing loss disorder" "Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII)." "" "nut midline carcinoma" "A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene." "" "undifferentiated carcinoma" "A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation." "" "blastoma" "A malignant neoplasm composed of undifferentiated cells." "" "neonatal abstinence syndrome" "A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors." "" - "obsolete cartilage disease" "Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." "" "true" + "obsolete cartilage disease" "OBSOLETE. Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." "" "true" "polycythemia due to hypoxia" "Polycythemia resulting from hypoxia." "" "obsolete type II hypersensitivity reaction disease" "" "true" "cryoglobulinemia" "Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause." "" @@ -6924,9 +6909,9 @@ "squamous cell carcinoma of pancreas" "A squamous cell carcinoma that involves the pancreas." "" "typhoid fever" "A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics." "" "cerebral amyloid angiopathy" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." "" + "genetic dementia" "Genetic dementia." "" "hereditary amyloidosis" "Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants." "" "genetic cerebral small vessel disease" "" - "metabolic disease with dementia" "True" "cerebrovascular dementia" "" "vascular brain injury" "Damage to the blood vessels of the brain" "" "brain injury" "Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits." "" @@ -6983,6 +6968,7 @@ "border disease" "Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus." "" "borna disease" "An encephalomyelitis of horses, sheep and cattle caused by borna disease virus." "" "bovine respiratory disease complex" "A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents." "" + "cattle disease" "Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus." "" "bovine virus diarrhea-mucosal disease" "Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality." "" "Brill-Zinsser disease" "A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii." "" "epidemic louse-borne typhus" "A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis." "" @@ -7010,7 +6996,7 @@ "cervicofacial actinomycosis" "A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses." "" "chickenpox" "A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications." "" "chlamydia infectious disease" "Infections with bacteria of the genus CHLAMYDIA." "" - "obsolete chromoblastomycosis" "A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." "" "true" + "obsolete chromoblastomycosis" "OBSOLETE. A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." "" "true" "obsolete Churg-Strauss syndrome" "" "true" "clonorchiasis" "Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)" "" "coccidioidomycosis" "A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease." "" @@ -7051,7 +7037,7 @@ "Ebola hemorrhagic fever" "A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate." "" "Filoviridae infectious disease" "Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown." "" "Echovirus infectious disease" "Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses." "" - "obsolete egg allergy" "Allergic reaction to eggs that is triggered by the immune system." "" "true" + "obsolete egg allergy" "OBSOLETE. Allergic reaction to eggs that is triggered by the immune system." "" "true" "emphysematous cholecystitis" "Cholecystitis resulting from infection by gas producing organisms." "" "encephalitozoonosis" "Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium." "" "microsporidiosis" "A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting." "" @@ -7274,7 +7260,7 @@ "toxascariasis" "Infections with nematodes of the genus toxascaris." "" "toxocariasis" "A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections." "" "trench fever" "An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse." "" - "trichinosis" "A parasitic infection caused by larvae of worms of the genus Trichinella. It is transmitted to humans by ingesting raw or undercooked meat from infected animals. Signs and symptoms include abdominal discomfort, nausea, vomiting, fever, diarrhea, headache, coughing, myalgias, arthralgias, and eye swelling." "" + "trichinosis" "A parasitic infection caused by larvae of worms of the genus Trichinella. It is transmitted to humans by ingesting raw or undercooked meat from infected animals. Signs and symptoms include abdominal discomfort, nausea, vomiting, fever, diarrhea, headache, coughing, myalgias, arthralgias, and eye swelling." "True" "Trichomonas vaginitis urogenital infection" "A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse." "" "trichostrongylosis" "Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin." "" "trichuriasis" "An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea." "" @@ -7341,7 +7327,7 @@ "ACTH-producing pituitary gland neoplasm" "An adenoma or carcinoma of the pituitary gland that produces corticotropin." "" "ACTH-producing pituitary gland carcinoma" "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease." "" "obsolete acute leukemia" "" "true" - "obsolete adenoid cystic breast carcinoma" "An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." "" "true" + "obsolete adenoid cystic breast carcinoma" "OBSOLETE. An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent." "" "true" "adenomatoid odontogenic tumor" "A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare." "" "benign neoplasm of oral cavity" "A benign neoplasm that involves the oral cavity." "" "adrenal gland myelolipoma" "A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues." "" @@ -7417,7 +7403,7 @@ "cervical villoglandular adenocarcinoma" "A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern." "" "cervical small cell carcinoma" "A small cell carcinoma arising from the cervix." "" "chondroid hamartoma" "A hamartoma that is characterized by the presence of chondroid elements." "" - "chronic eosinophilic leukemia, not otherwise specified" "A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \"idiopathic hypereosinophilic syndrome\" is preferred. (WHO, 2001)" "" + "chronic eosinophilic leukemia, not otherwise specified" "A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of \"idiopathic hypereosinophilic syndrome\" is preferred. (WHO, 2001)" "True" "obsolete chronic neutrophilic leukemia" "" "true" "clear cell papillary cystadenoma" "A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion." "" "colon Burkitt lymphoma" "A rare Burkitt lymphoma that arises from the colon." "" @@ -7463,7 +7449,7 @@ "endolymphatic sac tumor" "An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor." "" "endometrial clear cell adenocarcinoma" "A clear cell adenocarcinoma that involves the endometrium." "" "endometrial hyperplasia without atypia" "Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." "" - "obsolete endometrial mucinous adenocarcinoma" "A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." "" "true" + "obsolete endometrial mucinous adenocarcinoma" "OBSOLETE. A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." "" "true" "endometrial polyp" "A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported." "" "endometrial serous adenocarcinoma" "A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." "" "endometrial small cell carcinoma" "A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." "" @@ -7517,7 +7503,7 @@ "gestational trophoblastic disease" "" "ileal neuroendocrine tumor G1" "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." "" "ileal neuroendocrine tumor, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum." "" - "inclusion body fibromatosis" "A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions." "True" + "obsolete inclusion body fibromatosis" "" "true" "obsolete infiltrating bladder lymphoepithelioma-like carcinoma" "" "true" "obsolete infiltrating bladder urothelial carcinoma sarcomatoid variant" "" "true" "intimal sarcoma" "A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor." "" @@ -7626,7 +7612,7 @@ "placental choriocarcinoma" "Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur." "" "placental hemangioma" "A hemangioma arising from the fetal blood vessels in the placental villi." "" "benign neoplasm of placenta" "A benign neoplasm that involves the placenta." "" - "obsolete plantar fibromatosis" "A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." "" "true" + "obsolete plantar fibromatosis" "OBSOLETE. A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern." "" "true" "pleural biphasic mesothelioma" "Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor." "" "pleural epithelioid mesothelioma" "Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns." "" "obsolete pleural mesothelioma" "" "true" @@ -7692,14 +7678,14 @@ "obsolete T-cell prolymphocytic leukemia" "" "true" "tendon sheath fibroma" "A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation." "" "obsolete tenosynovial giant cell tumor" "" "true" - "obsolete testicular choriocarcinoma" "A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." "" "true" + "obsolete testicular choriocarcinoma" "OBSOLETE. A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts." "" "true" "obsolete testicular teratoma (disease)" "" "true" "obsolete testicular yolk sac tumor" "" "true" "therapy-related myeloid neoplasm" "Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." "" "thymic epithelial neoplasm" "An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas." "" "thymic sarcomatoid carcinoma" "A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma." "" - "obsolete thymic small cell carcinoma" "An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." "" "true" - "obsolete thymic squamous cell carcinoma" "A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." "" "true" + "obsolete thymic small cell carcinoma" "OBSOLETE. An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies." "" "true" + "obsolete thymic squamous cell carcinoma" "OBSOLETE. A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation." "" "true" "thymic undifferentiated carcinoma" "A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features." "" "obsolete thymoma type AB" "" "true" "thymoma type B3" "Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases." "" @@ -7719,7 +7705,7 @@ "tracheal adenoid cystic carcinoma" "An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes." "" "obsolete tracheal carcinoma" "" "true" "obsolete tracheal squamous cell carcinoma" "" "true" - "obsolete unclassified renal cell carcinoma" "A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." "" "true" + "obsolete unclassified renal cell carcinoma" "OBSOLETE. A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." "" "true" "undifferentiated gallbladder carcinoma" "A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma." "" "undifferentiated ovarian carcinoma" "An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor." "" "undifferentiated pancreatic carcinoma" "A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells." "" @@ -7781,7 +7767,7 @@ "lipomatosis" "A neoplastic process characterized by diffuse overgrowth of mature adipose tissue." "" "dyshidrosis" "A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)" "" "epidermolysis bullosa" "Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool." "" - "obsolete epidermolysis bullosa acquisita" "A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes." "" "true" + "obsolete epidermolysis bullosa acquisita" "OBSOLETE. A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes." "" "true" "epidermolysis bullosa dystrophica" "A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes." "" "inherited epidermolysis bullosa" "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." "" "erythema infectiosum" "A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern." "" @@ -7812,7 +7798,7 @@ "dermatitis herpetiformis" "Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance." "" "keratinization disease" "" "kernicterus due to isoimmunization" "Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus." "" - "neonatal jaundice" "Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma." "" + "neonatal jaundice" "Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma." "True" "bilirubin encephalopathy" "" "obsolete Kimura disease" "" "true" "leg dermatosis" "A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)" "" @@ -7881,7 +7867,7 @@ "adrenal cortex carcinoma" "A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." "" "adrenal/paraganglial tumor" "" "malignant tumor of adrenal cortex" "A cancer that involves the adrenal cortex." "" - "ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor" "True" + "obsolete ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor" "" "true" "afferent loop syndrome" "A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid." "" "alcohol withdrawal delirium" "An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" "" "alcoholic cardiomyopathy" "A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years." "" @@ -7915,7 +7901,7 @@ "Bacteroides infectious disease" "Infections with bacteria of the genus bacteroides." "" "Bacteroidaceae infectious disease" "Infections with bacteria of the family BACTEROIDACEAE." "" "pituitary gland basophil adenoma" "An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes." "" - "obsolete benign fibrous mesothelioma" "A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." "" "true" + "obsolete benign fibrous mesothelioma" "OBSOLETE. A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." "" "true" "obsolete benign monoclonal gammopathy" "" "true" "beriberi" "Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth." "" "Wernicke-Korsakoff syndrome" "Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed." "" @@ -7961,7 +7947,7 @@ "obsolete diabetic angiopathy" "" "true" "diaphragmatic eventration" "A congenital or acquired abnormality characterized by elevation of the hemidiaphragm." "" "diastolic heart failure" "Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling." "" - "obsolete discitis" "Inflammation of an intervertebral disc or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." "" "true" + "obsolete discitis" "OBSOLETE. Inflammation of an intervertebral disc or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." "" "true" "discrete subaortic stenosis" "A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta." "" "subvalvular aortic stenosis" "An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects." "" "drug psychosis" "Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." "" @@ -7997,13 +7983,12 @@ "fibromuscular dysplasia" "A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation." "" "freemartinism" "A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism)." "" "sex chromosome disorder of sex development" "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism." "" - "cattle disease" "Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus." "" "frozen shoulder" "Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." "" "Fusobacterium infectious disease" "Infections with bacteria of the genus fusobacterium." "" "Fusobacteriaceae infectious disease" "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria." "" "gait apraxia" "Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia." "" "gastric antral vascular ectasia" "Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding." "" - "obsolete gastric outlet obstruction" "Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer." "" "true" + "obsolete gastric outlet obstruction" "OBSOLETE. Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer." "" "true" "gastroparesis" "Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine." "" "giant cell reparative granuloma" "A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure." "" "obsolete glycogen storage disease VIII" "" "true" @@ -8018,7 +8003,7 @@ "hemometra" "Blood-filled uterus." "" "hemopneumothorax" "Collection of air and blood in the pleural cavity." "" "hemorrhagic disease of newborn" "A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver." "" - "Henoch-Schoenlein purpura" "A systemic, usually self-limited immune complex vasculitis, characterized by immunoglobulin A deposition in the small vessels and kidneys. It is manifested with small hemorrhages in the skin, gastrointestinal symptoms, arthritis, and nephropathy." "True" + "obsolete Henoch-Schoenlein purpura" "" "true" "hepatic vein thrombosis" "A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon." "" "hidrocystoma" "A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative." "" "hydrophthalmos" "Abnormal enlargement of the eye" "" @@ -8051,12 +8036,10 @@ "obsolete Klatskin's tumor" "" "true" "Klinefelter syndrome" "A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present." "" "X chromosome number anomaly" "True" - "male infertility due to gonadal dysgenesis" "True" "chromosome X disorder" "Chromosomal disorder in which chromosome X is affected." "" "trisomy" "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number." "" "Krebs 2 carcinoma" "Carcinoma having known association to krebs2 gene mutation" "" "kuru" "A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" "" - "miscellaneous movement disorder due to neurodegenerative disease" "True" "human prion disease" "Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ)." "" "kwashiorkor" "A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)" "" "lateral medullary syndrome" "A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking." "" @@ -8095,7 +8078,7 @@ "neurogenic bowel" "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." "" "obsolete noma" "" "true" "non-gestational choriocarcinoma" "A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis." "" - "obsolete nut allergic reaction" "Allergic reaction to tree nuts that is triggered by the immune system." "" "true" + "obsolete nut allergic reaction" "OBSOLETE. Allergic reaction to tree nuts that is triggered by the immune system." "" "true" "obstructive jaundice" "A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system." "" "ocular hypertension" "Abnormally high intraocular pressure." "" "ocular tuberculosis" "Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid." "" @@ -8142,7 +8125,7 @@ "prediabetes syndrome" "A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes." "" "Anaplasmataceae infectious disease" "Infections with bacteria of the family anaplasmataceae." "" "proliferative vitreoretinopathy" "Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." "" - "vitreoretinal degeneration" "" + "vitreoretinal degeneration" "True" "CAPN5-related vitreoretinopathy" "An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients." "" "Proteus infectious disease" "Infections with bacteria of the genus proteus." "" "pseudobulbar palsy" "A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes." "" @@ -8214,7 +8197,7 @@ "inherited vitreoretinopathy" "" "vulvitis" "Inflammation of the vulva. It is characterized by pruritus and painful urination." "" "Wernicke encephalopathy" "An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" "" - "obsolete wheat allergic disease" "Allergic reaction to wheat that is triggered by the immune system." "" "true" + "obsolete wheat allergic disease" "OBSOLETE. Allergic reaction to wheat that is triggered by the immune system." "" "true" "xanthogranulomatous pyelonephritis" "Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli." "" "Yersinia infectious disease" "Infections with bacteria of the genus yersinia." "" "Yersinia pseudotuberculosis infectious disease" "Infections with bacteria of the species yersinia pseudotuberculosis." "" @@ -8225,7 +8208,7 @@ "rotator cuff syndrome" "Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder." "" "branchio-oto-renal syndrome" "A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts)." "" "syndromic urogenital tract malformation" "A urogenital tract malformation that is part of a larger syndrome." "" - "syndrome or malformation associated with head and neck malformations" "True" + "obsolete syndrome or malformation associated with head and neck malformations" "" "true" "autosomal dominant Aarskog syndrome" "" "faciodigitogenital syndrome" "A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome." "" "familial abdominal aortic aneurysm" "An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome." "" @@ -8233,14 +8216,13 @@ "fetal lower urinary tract obstruction" "" "abducens nerve palsy" "Paralysis of the abducens nerve." "" "Adams-Oliver syndrome" "Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects." "" - "syndrome with limb reduction defects" "True" + "congenital limb malformation" "" "mixed dermis disorder" "" "acanthosis nigricans" "A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy." "" - "skin pigmentation disorder" "A pigmentation disease that involves the zone of skin." "" "Achard syndrome" "A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet." "" "achondroplasia" "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." "" "FGFR3-related chondrodysplasia" "" - "primary bone dysplasia with micromelia" "True" + "obsolete primary bone dysplasia with micromelia" "" "true" "Achoo syndrome" "" "neurofibromatosis type 2" "A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas." "" "neurofibromatosis" "A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist." "" @@ -8258,7 +8240,7 @@ "marginal papular palmoplantar keratoderma" "" "acrokeratoderma" "" "dermis elastic tissue disorder" "" - "acquired dermis elastic tissue disorder with increased elastic tissue" "True" + "obsolete acquired dermis elastic tissue disorder with increased elastic tissue" "" "true" "acrokeratosis verruciformis" "A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows." "" "acroleukopathy, symmetric" "" "acromegaloid changes, cutis verticis gyrata, and corneal leukoma" "" @@ -8277,11 +8259,11 @@ "acrorenal syndrome" "Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected." "" "spermatogenic failure 6" "Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene." "" "male infertility due to globozoospermia" "Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent." "" - "acylase, cobalt-activated" "" + "acylase, cobalt-activated" "True" "congenital absence/hypoplasia of fingers excluding thumb, unilateral" "Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." "" "congenital absence/hypoplasia of fingers excluding thumb" "" - "obsolete long bone adamantinoma" "A adamantinoma that involves the long bone." "" "true" - "adenosine deaminase deficiency" "A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." "" + "obsolete long bone adamantinoma" "OBSOLETE. A adamantinoma that involves the long bone." "" "true" + "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency" "A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." "" "T-B- severe combined immunodeficiency" "T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." "" "inborn disorder of purine metabolism" "An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process." "" "obsolete adenosine deaminase, elevated, hemolytic anemia due to" "" "true" @@ -8303,11 +8285,9 @@ "obsolete ocular albinism with sensorineural deafness" "" "true" "Tietz syndrome" "Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." "" "hypopigmentation of the skin" "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections." "" - "pigmentation disorder with eye involvement, excluding albinism" "True" "pseudohypoparathyroidism type 1A" "Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO)." "" "syndromic genetic obesity" "" "pseudohypoparathyroidism" "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP)." "" - "musculoskeletal disease with cataract" "True" "alcohol dependence" "Physical and psychological dependence on alcohol." "" "glucocorticoid-remediable aldosteronism" "Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol." "" "familial hyperaldosteronism" "Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol." "" @@ -8323,9 +8303,8 @@ "alternating hemiplegia of childhood 1" "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene." "" "alternating hemiplegia of childhood" "A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." "" "Alzheimer disease type 1" "" - "early-onset autosomal dominant Alzheimer disease" "Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." "" + "early-onset autosomal dominant Alzheimer disease" "A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old." "" "Alzheimer disease 2" "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele." "" - "genetic dementia" "Genetic dementia." "" "familial Alzheimer disease" "A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner." "" "amastia, bilateral, with ureteral triplication and dysmorphism" "" "amelia and terminal transverse hemimelia" "" @@ -8367,7 +8346,6 @@ "angioma serpiginosum" "Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko." "" "hereditary neurocutaneous angioma" "Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant." "" "neurovascular malformation" "" - "malformation syndrome with hamartosis" "True" "obsolete angioedema, hereditary, type 1/2" "" "true" "isolated anhidrosis with normal sweat glands" "Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene." "" "isolated aniridia" "Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." "" @@ -8392,7 +8370,6 @@ "anonychia-ectrodactyly" "" "anonychia-onychodystrophy with brachydactyly type b and ectrodactyly" "" "Cooks syndrome" "Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized." "" - "congenital limb malformation" "" "nonsyndromic congenital nail disorder 6" "" "isolated congenital anonychia" "Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern." "" "anonychia-onychodystrophy syndrome" "" @@ -8406,7 +8383,6 @@ "antiviral state repressor, regulator of" "True" "Townes-Brocks syndrome" "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." "" "syndromic anorectal malformation" "A anorectal malformation that is part of a larger syndrome." "" - "syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy" "True" "aortic arch anomaly-facial dysmorphism-intellectual disability syndrome" "Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968." "" "aortic arch interruption, facial palsy, and retinal coloboma" "" "aplasia cutis congenita" "Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies." "" @@ -8445,7 +8421,7 @@ "hereditary ataxia" "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual." "" "atelosteogenesis type I" "Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." "" "filamin-related bone disorder" "" - "primary bone dysplasia with multiple joint dislocations" "True" + "obsolete primary bone dysplasia with multiple joint dislocations" "" "true" "atelosteogenesis type III" "Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." "" "atherosclerosis susceptibility" "" "atresia of external auditory canal and conductive deafness" "" @@ -8476,16 +8452,15 @@ "Behcet disease" "A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." "" "skin vascular disease" "A disease that involves the superficial vasculature." "" "predominantly large-vessel vasculitis" "" - "inflammatory and autoimmune disease with epilepsy" "True" + "obsolete inflammatory and autoimmune disease with epilepsy" "" "true" "obsolete systemic diseases with anterior uveitis" "" "true" "obsolete systemic diseases with posterior uveitis" "" "true" "obsolete systemic diseases with panuveitis" "" "true" - "autoinflammatory syndrome with skin involvement" "True" + "obsolete autoinflammatory syndrome with skin involvement" "" "true" "obsolete unclassified autoinflammatory syndrome" "" "true" "beta-amino acids, renal transport of" "" "primary biliary cholangitis 1" "" "familial bicuspid aortic valve" "A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection)." "" - "rare disease with thoracic aortic aneurysm and aortic dissection" "True" "aortic malformation" "" "bifid nose, autosomal dominant" "" "obsolete bladder cancer" "" "true" @@ -8502,7 +8477,7 @@ "Cole-Carpenter syndrome" "Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia)." "" "diaphyseal medullary stenosis-bone malignancy syndrome" "Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." "" "primary bone dysplasia" "" - "primary bone dysplasia with increased bone density" "True" + "obsolete primary bone dysplasia with increased bone density" "" "true" "bone pain, periodic" "" "Böök syndrome" "Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." "" "Boomerang dysplasia" "Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing." "" @@ -8510,7 +8485,6 @@ "bent bone dysplasia" "" "Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay" "" "brachydactyly-arterial hypertension syndrome" "Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50." "" - "syndrome with brachydactyly" "Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis." "True" "brachydactyly-long thumb syndrome" "Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." "" "heart-hand syndrome" "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies." "" "Ballard syndrome" "Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature." "" @@ -8520,8 +8494,8 @@ "brachydactyly type A2" "Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger." "" "brachydactyly type A3" "" "brachydactyly type A4" "Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit." "" - "brachydactyly type A6" "Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant." "" - "acromesomelic dysplasia" "Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type" "" + "Osebold-Remondini syndrome" "A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant." "" + "acromesomelic dysplasia" "A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type" "" "brachydactyly type B1" "Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene." "" "brachydactyly type B" "A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons." "" "brachydactyly type C" "" @@ -8569,7 +8543,7 @@ "camptodactyly of fingers" "Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected." "" "congenital deformities of fingers" "" "campomelic dysplasia" "Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)." "" - "syndrome with 46,XY disorder of sex development" "True" + "46,XY disorder of sex development" "Differences of sex development in individuals with 46,XY karyotype." "" "Gordon syndrome" "Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition." "" "cancer, familial, with in vitro Radioresistance" "" "obsolete colorectal cancer" "" "true" @@ -8656,12 +8630,13 @@ "Charcot-Marie-Tooth disease type 1A" "Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications." "" "partial duplication of the short arm of chromosome 17" "" "Charcot-Marie-Tooth disease, Guadalajara neuronal type" "" + "Charcot-Marie-Tooth disease" "An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs." "" "Charcot-Marie-Tooth disease type 1E" "A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients." "" "Charcot-Marie-Tooth disease with ptosis and parkinsonism" "" "cheilitis glandularis" "Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands." "" "chemodectoma, intraabdominal, with cutaneous angiolipomas" "" "cherubism" "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." "" - "autoinflammatory syndrome with immune deficiency" "True" + "primary immunodeficiency due to a genetic defect in innate immunity" "" "Chiari malformation type I" "Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic." "" "neural tube defect" "A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida." "" "chlorpropamide-alcohol flushing" "True" @@ -8716,7 +8691,7 @@ "coloboma, ocular, autosomal dominant" "" "coloboma of macula" "Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders." "" "renal coloboma syndrome" "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." "" - "syndromic developmental defect of the eye" "A developmental defect of the eye that is part of a larger syndrome." "True" + "developmental defect of the eye" "" "coloboma of macula-brachydactyly type B syndrome" "Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." "" "coloboma of optic nerve" "" "uveal coloboma-cleft lip and palate-intellectual disability" "Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant." "" @@ -8784,15 +8759,14 @@ "Jackson-Weiss syndrome" "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients." "" "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome" "Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant." "" "familial scaphocephaly syndrome" "" - "syndrome with a Dandy-Walker malformation as major feature" "True" + "central nervous system malformation" "" "creatine phosphokinase, elevated serum" "" "inherited Creutzfeldt-Jakob disease" "Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia." "" "inherited prion disease" "An instance of prion disease that is caused by an inherited modification of the individual's genome." "" - "miscellaneous movement disorder due to genetic neurodegenerative disease" "True" "Cri-du-chat syndrome" "Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism." "" "partial deletion of the short arm of chromosome 5" "" "syndromic epicanthus" "" - "chromosomal anomaly with cataract" "True" + "obsolete chromosomal anomaly with cataract" "" "true" "Crouzon syndrome" "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." "" "syndromic craniosynostosis" "A craniosynostosis that is part of a larger syndrome." "" "cryofibrinogenemia, familial primary" "" @@ -8871,14 +8845,14 @@ "short stature-valvular heart disease-characteristic facies syndrome" "Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait." "" "multiple sclerosis, susceptibility to" "" "distal osteosclerosis" "" - "obsolete isolated distichiasis" "Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." "" "true" + "obsolete isolated distichiasis" "OBSOLETE. Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." "" "true" "distichiasis with congenital anomalies of the heart and peripheral vasculature" "" "DNA, satellite, 3" "" "DNA, low-repetitive sequences of" "" "obsolete DNA, satellite, alpha type" "" "true" "double nail for fifth toe" "" "calvarial doughnut lesions-bone fragility syndrome" "This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria." "" - "primary bone dysplasia with decreased bone density" "True" + "obsolete primary bone dysplasia with decreased bone density" "" "true" "Doyne honeycomb retinal dystrophy" "Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner." "" "familial flecked retinopathy" "" "disease predisposing to age-related macular degeneration" "" @@ -8956,7 +8930,6 @@ "autosomal dominant Ehlers-Danlos syndrome, vascular type" "The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." "" "Ehlers-Danlos syndrome, arthrochalasis type" "Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms." "" "Ehlers-Danlos syndrome, spondylodysplastic type" "A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." "" - "congenital disorder of glycosylation with skin involvement" "True" "Ehlers-Danlos syndrome, periodontitis type" "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility." "" "Ehlers-Danlos syndrome, autosomal dominant, type unspecified" "" "elastosis perforans serpiginosa" "" @@ -8991,14 +8964,14 @@ "epidermoid cysts" "The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule." "" "transient bullous dermolysis of the newborn" "Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." "" "generalized dominant dystrophic epidermolysis bullosa" "Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." "" - "epidermolysis bullosa simplex Dowling-Meara type" "Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." "" - "basal epidermolysis bullosa simplex" "A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes." "" - "localized epidermolysis bullosa simplex" "Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." "" + "epidermolysis bullosa simplex 1A, generalized severe" "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." "" + "basal epidermolysis bullosa simplex" "A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes." "True" + "epidermolysis bullosa simplex 1C, localized" "A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." "" "pretibial dystrophic epidermolysis bullosa" "Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." "" "epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase" "" - "generalized epidermolysis bullosa simplex, non-Dowling-Meara type" "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." "" - "epidermolysis bullosa simplex Ogna type" "Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering." "" - "epidermolysis bullosa simplex with mottled pigmentation" "Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation." "" + "epidermolysis bullosa simplex 1B, generalized intermediate" "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." "" + "pidermolysis bullosa simplex 5A, Ogna type" "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering." "" + "epidermolysis bullosa simplex 2F, with mottled pigmentation" "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation." "" "epidermolysis bullosa with congenital localized absence of skin and deformity of nails" "" "benign occipital epilepsy" "Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes." "" "childhood-onset epilepsy syndrome" "A epilepsy syndrome that occurs during childhood." "" @@ -9063,7 +9036,7 @@ "femoral-facial syndrome" "Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." "" "fibrinolytic defect" "" "fibrodysplasia ossificans progressiva" "Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." "" - "primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" "True" + "obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" "" "true" "Birt-Hogg-Dube syndrome" "Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977." "" "desmoid tumor" "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential." "" "fibromatosis, gingival, 1" "Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene." "" @@ -9133,7 +9106,7 @@ "fissured tongue" "" "Gerstmann-Straussler-Scheinker syndrome" "A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia." "" "giant neutrophil leukocytes" "" - "obsolete spitz nevus" "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." "" "true" + "obsolete spitz nevus" "OBSOLETE. A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." "" "true" "obsolete giant platelet syndrome with thrombocytopenia" "" "true" "familial ossifying fibroma" "An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome." "" "Tourette syndrome" "A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen." "" @@ -9162,7 +9135,7 @@ "hyperglycinuria" "" "obsolete glycoprotein, renal" "" "true" "GMS syndrome" "GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992." "" - "goniodysgenesis" "" + "goniodysgenesis" "True" "multinodular goiter-cystic kidney-polydactyly syndrome" "Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." "" "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors" "Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene." "" "granddad syndrome" "" @@ -9282,10 +9255,10 @@ "hypersecretion of adrenal androgens, familial" "" "hypersensitivity pneumonitis, familial" "An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome." "" "hypertaurinuric cardiomyopathy" "" - "obsolete hypertelorism" "A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism)." "" "true" + "obsolete hypertelorism" "OBSOLETE. A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism)." "" "true" "autosomal dominant Opitz G/BBB syndrome" "Autosomal dominant form of Opitz G/BBB syndrome." "" "Opitz G/BBB syndrome" "Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." "" - "hypertelorism, Teebi type" "Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes." "" + "hypertelorism, Teebi type" "Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes." "True" "essential hypertension, genetic" "An instance of essential hypertension that is caused by a modification of the individual's genome." "" "hyperthermia, cutaneous, with headaches and nausea" "" "malignant hyperthermia, susceptibility to, 1" "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene." "" @@ -9319,7 +9292,7 @@ "familial hypoparathyroidism" "A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects." "" "hypoparathyroidism-deafness-renal disease syndrome" "The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease." "" "partial deletion of the short arm of chromosome 10" "" - "obsolete adult hypophosphatasia" "Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies." "" "true" + "obsolete adult hypophosphatasia" "OBSOLETE. Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies." "" "true" "hypophosphatemic bone disease" "" "chromosome 18p deletion syndrome" "Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18." "" "partial deletion of chromosome 18" "" @@ -9327,7 +9300,7 @@ "hypospadias 3, autosomal" "" "primary orthostatic hypotension" "Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication." "" "Pallister-Hall syndrome" "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." "" - "disease associated with non-acquired combined pituitary hormone deficiency" "True" + "non-acquired combined pituitary hormone deficiency" "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis." "" "hypotrichosis 2" "Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene." "" "hypotrichosis simplex of the scalp" "Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp." "" "hypotrichosis 4" "Any hypotrichosis in which the cause of the disease is a mutation in the HR gene." "" @@ -9338,7 +9311,6 @@ "autosomal dominant ichthyosis vulgaris" "Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern." "True" "ichthyosis vulgaris" "The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin." "" "ichthyosis-cheek-eyebrow syndrome" "Ichthyosis-cheek-eyebrow syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant." "" - "autosomal ichthyosis syndrome" "" "ichthyosis, lamellar, autosomal dominant" "" "lamellar ichthyosis" "A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." "" "superficial epidermolytic ichthyosis" "Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth." "" @@ -9351,7 +9323,7 @@ "IgE responsiveness, atopic" "Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue." "" "Hyper-IgE recurrent infection syndrome 1" "A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome." "" "hyper-IgE syndrome" "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections." "" - "immune deficiency with skin involvement" "True" + "obsolete immune deficiency with skin involvement" "" "true" "solitary median maxillary central incisor syndrome" "A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified." "" "microform holoprosencephaly" "Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage." "" "fused mandibular incisors" "Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure." "" @@ -9486,7 +9458,6 @@ "intestinal lymphangiectasia" "Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies." "" "lymphedema-cerebral arteriovenous anomaly syndrome" "Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children." "" "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability" "Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." "" - "syndrome with microcephaly as major feature" "True" "lymphatic malformation 1" "Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene." "" "lymphatic malformation 5" "A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty." "" "yellow nail syndrome" "Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema." "" @@ -9526,6 +9497,7 @@ "mannose 6-phosphate receptor recognition defect, Lebanese type" "" "jaw-winking syndrome" "Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis." "" "Marfan syndrome" "A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person." "" + "obsolete rare disease with thoracic aortic aneurysm and aortic dissection" "" "true" "syndromic keratoconus" "A keratoconus (disease) that is part of a larger syndrome." "" "marfanoid hypermobility syndrome" "" "Marshall syndrome" "Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis." "" @@ -9639,7 +9611,7 @@ "facioscapulohumeral muscular dystrophy 1" "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene." "" "facioscapulohumeral muscular dystrophy 2" "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene." "" "obsolete autosomal dominant limb-girdle muscular dystrophy type 1A" "" "true" - "obsolete autosomal dominant limb-girdle muscular dystrophy type 1B" "Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death." "" "true" + "obsolete autosomal dominant limb-girdle muscular dystrophy type 1B" "OBSOLETE. Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death." "" "true" "muscular dystrophy, pseudohypertrophic, with Internalized capillaries" "" "Becker muscular dystrophy" "Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." "" "muscular hypoplasia, congenital universal, of Krabbe" "" @@ -9650,7 +9622,7 @@ "transient myeloproliferative syndrome" "A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission." "" "Down syndrome" "Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects." "" "myoclonic epilepsy, Hartung type" "" - "myoclonus and ataxia" "" + "myoclonus and ataxia" "True" "myoclonic cerebellar dyssynergia" "A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" "" "myoclonus-cerebellar ataxia-deafness syndrome" "This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss." "" "myoclonic dystonia 11" "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene." "" @@ -9680,7 +9652,6 @@ "Naegeli-Franceschetti-Jadassohn syndrome" "Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth." "" "nonsyndromic congenital nail disorder 1" "Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails." "" "nail-patella syndrome" "A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies." "" - "onycho-patellar syndrome with eye involvement" "True" "narcolepsy 1" "A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy." "" "narcolepsy" "A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day." "" "narcolepsy-cataplexy syndrome" "Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions)." "" @@ -9785,7 +9756,6 @@ "Leber plus disease" "Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations." "" "optic atrophy 3" "" "autosomal dominant optic atrophy" "An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss." "" - "mitochondrial oxidative phosphorylation disorder with no known mechanism" "True" "autosomal dominant optic atrophy, classic form" "One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects." "" "optic atrophy 13 with retinal and foveal abnormalities" "" "hereditary optic atrophy" "A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve." "" @@ -9795,7 +9765,6 @@ "orofaciodigital syndrome" "Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait." "" "syndromic orbital border hypoplasia" "Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." "" "OSLAM syndrome" "OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia." "" - "syndrome with synostosis or other joint formation defect" "True" "ossified ear cartilages" "" "ossicular malformations, familial" "" "Thiemann disease, familial form" "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." "" @@ -9894,7 +9863,6 @@ "obsolete pepsinogen 3, group 1" "" "true" "prolidase deficiency" "Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly." "" "inborn disorder of peptide metabolism" "" - "metabolic disease with skin involvement" "True" "Andersen-Tawil syndrome" "Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly." "" "hypokalemic periodic paralysis" "Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels." "" "hyperkalemic periodic paralysis" "Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." "" @@ -9971,7 +9939,7 @@ "popliteal cyst" "A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint." "" "brain small vessel disease 1 with or without ocular anomalies" "Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene." "" "familial porencephaly" "An instance of porencephaly that is caused by an inherited modification of the individual's genome." "" - "COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy" "True" + "obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy" "" "true" "porokeratosis 1, Mibelli type" "" "porokeratosis of Mibelli" "Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border." "" "porokeratosis plantaris palmaris et disseminata" "Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized." "" @@ -9987,7 +9955,6 @@ "postaxial tetramelic oligodactyly" "Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993." "" "posterior column ataxia" "" "Prader-Willi syndrome" "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems." "" - "female infertility due to a congenital hypogonadotropic hypogonadism" "True" "Guttmacher syndrome" "Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." "" "centra precocious puberty 1" "Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene." "" "central precocious puberty" "Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys)." "" @@ -10023,7 +9990,7 @@ "autosomal dominant pseudohypoaldosteronism type 1" "Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney." "" "pseudohypoaldosteronism type 1" "Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." "" "pseudomonilethrix" "" - "obsolete pseudopapilledema" "Apparent optic disc swelling in the absence of increased intracranial pressure." "" "true" + "obsolete pseudopapilledema" "OBSOLETE. Apparent optic disc swelling in the absence of increased intracranial pressure." "" "true" "pseudo-von Willebrand disease" "Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." "" "hereditary von Willebrand disease" "Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N)." "" "pseudoxanthoma elasticum, forme fruste" "An autosomal dominant form of PXE." "" @@ -10043,12 +10010,12 @@ "pulmonary atresia with ventricular septal defect" "Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot." "" "conotruncal heart malformations" "Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon)." "" "pulmonary edema of mountaineers, susceptibility to" "" - "idiopathic pulmonary fibrosis" "Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause." "" + "idiopathic pulmonary fibrosis" "Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause." "True" "pulmonary hemosiderosis" "Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients." "" "primary interstitial lung disease in childhood and adulthood" "" "idiopathic and/or familial pulmonary arterial hypertension" "Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown." "" "pulmonary arterial hypertension" "Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease)." "" - "obsolete rare genetic respiratory disease" "Rare genetic respiratory system disease." "True" "true" + "obsolete rare genetic respiratory disease" "OBSOLETE. Rare genetic respiratory system disease." "True" "true" "pulmonary nodular lymphoid hyperplasia" "Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung." "" "pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities" "" "pulmonic stenosis and deafness" "" @@ -10124,7 +10091,6 @@ "qualitative or quantitative defects of desmin" "" "scapuloperoneal spinal muscular atrophy, autosomal dominant" "" "MYH7-related late-onset scapuloperoneal muscular dystrophy" "" - "late-onset scapuloperoneal muscular dystrophy with hyaline bodies" "True" "Scheuermann disease" "A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood." "" "ulnar-mammary syndrome" "Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described." "" "intestinal schistosomiasis" "An intestinal infection that is caused by Schistosoma japonicum." "" @@ -10145,9 +10111,10 @@ "Shprintzen-Goldberg syndrome" "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability." "" "sister chromatid exchange, frequency of" "" "septooptic dysplasia" "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects." "" - "syndrome with a central nervous system malformation as major feature" "True" + "obsolete syndromic developmental defect of the eye" "OBSOLETE. A developmental defect of the eye that is part of a larger syndrome." "" "true" + "obsolete syndrome with a central nervous system malformation as major feature" "" "true" "syndromic optic nerve hypoplasia" "" - "developmental defect of the eye" "" + "obsolete disease associated with non-acquired combined pituitary hormone deficiency" "" "true" "Singleton-Merten dysplasia" "Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male)." "" "type 1 interferonopathy" "" "skeletal dysplasia with delayed epiphyseal and carpal bone ossification" "" @@ -10233,8 +10200,7 @@ "short stature-wormian bones-dextrocardia syndrome" "Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia." "" "striae distensae, familial" "" "Sturge-Weber syndrome" "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." "" - "palpebral tumor with a vascular malformation" "True" - "neurocutaneous syndrome with epilepsy" "True" + "obsolete neurocutaneous syndrome with epilepsy" "" "true" "obsolete obsolete rare capillary malformation with associated anomalies" "" "true" "sulfhemoglobinemia, congenital" "" "Worster-Drought syndrome" "Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking." "" @@ -10315,7 +10281,6 @@ "thumb stiffness-brachydactyly-intellectual disability syndrome" "Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case." "" "DiGeorge syndrome" "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly." "" "familial thyroglossal duct cyst" "Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck." "" - "congenital thyroid malformation without hypothyroidism" "True" "thyroid cancer, nonmedullary, 2" "" "familial papillary or follicular thyroid carcinoma" "A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients." "" "thyroid cancer, nonmedullary, 1" "" @@ -10375,7 +10340,7 @@ "blue color blindness" "Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision." "" "humerus trochlea aplasia" "Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." "" "tuberous sclerosis 1" "Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene)." "" - "tuberous sclerosis complex" "A neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features." "" + "tuberous sclerosis complex" "A neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features." "True" "Tuftsin deficiency" "" "suppressor of tumorigenicity 3" "" "tune deafness" "" @@ -10473,7 +10438,6 @@ "intestinal disease due to fat malabsorption" "" "hypobetalipoproteinemia" "A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol." "" "autosomal recessive metabolic cerebellar ataxia" "" - "constitutional hemolytic anemia due to acanthocytosis" "True" "ablepharon macrostomia syndrome" "Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome." "" "microblepharon-ablephara syndrome" "" "pseudoprogeria syndrome" "Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers." "" @@ -10489,7 +10453,7 @@ "achondrogenesis type IA" "Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage." "" "achondrogenesis" "Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2." "" "achondrogenesis type II" "Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." "" - "acromesomelic dysplasia, Grebe type" "Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal." "" + "acromesomelic dysplasia 2A" "An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal." "" "short-limb skeletal dysplasia with severe combined immunodeficiency" "Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." "" "lysosomal acid phosphatase deficiency" "" "Ackerman syndrome" "Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers." "" @@ -10505,7 +10469,7 @@ "acrofacial dysostosis Rodriguez type" "Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth." "" "acrofrontofacionasal dysostosis" "A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." "" "acrogeria" "A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed." "" - "acromesomelic dysplasia, Hunter-Thompson type" "Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal." "" + "acromesomelic dysplasia 2C, Hunter-Thompson type" "Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal." "" "Morvan syndrome" "Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases." "" "acrorenal syndrome, autosomal recessive" "Autosomal recessive form of acrorenal syndrome." "" "congenital isolated adrenocorticotropic hormone deficiency" "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland." "" @@ -10518,8 +10482,8 @@ "long chain acyl-CoA dehydrogenase deficiency" "A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy." "" "adducted thumbs-arthrogryposis syndrome, Christian type" "A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\"myopathic\" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." "" "congenital lipoid adrenal hyperplasia due to STAR deficency" "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males." "" + "46,XY disorder of sex development of endocrine origin" "" "congenital adrenal hyperplasia" "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." "" - "46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect" "True" "female infertility" "Diminished or absent ability of a female to achieve conception." "" "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" "" "Antley-Bixler syndrome" "Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures." "" @@ -10569,8 +10533,6 @@ "alopecia - intellectual disability syndrome" "Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." "" "alopecia universalis congenita" "The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." "" "mitochondrial DNA depletion syndrome 4a" "Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure." "" - "mitochondrial disease with epilepsy" "True" - "mitochondrial disease with peripheral neuropathy" "True" "mitochondrial DNA depletion syndrome, hepatocerebral form" "" "oxoglutaricaciduria" "Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases." "" "tricarboxylic acid cycle disorder" "An acquired metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle." "" @@ -10581,7 +10543,7 @@ "autosomal recessive Alport syndrome" "Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed." "" "Alstrom syndrome" "A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction." "" "inherited renal tubular disease" "" - "syndrome associated with dilated cardiomyopathy" "True" + "obsolete syndrome associated with dilated cardiomyopathy" "" "true" "Leber congenital amaurosis 1" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene." "" "GUCY2D-related recessive retinopathy" "A retinopathy caused by biallelic variants in the GUCY2D gene." "" "Leber congenital amaurosis 2" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene." "" @@ -10615,7 +10577,7 @@ "autosomal recessive sideroblastic anemia" "Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." "" "pyridoxine-responsive sideroblastic anemia" "" "microcytic anemia with liver iron overload" "Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients." "" - "constitutional anemia due to iron metabolism disorder" "True" + "inherited deficiency anemia" "" "IRIDA syndrome" "IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." "" "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane" "" "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism" "" @@ -10698,14 +10660,14 @@ "atrophoderma vermiculata" "" "Cooper-Jabs syndrome" "Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive." "" "obsolete autism" "" "true" - "congenital central hypoventilation syndrome" "A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients." "" + "congenital central hypoventilation syndrome" "A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients." "True" "Barber-Say syndrome" "Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." "" "congenital entropion" "" "Bardet-Biedl syndrome 1" "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13." "" "Bardet-Biedl syndrome" "A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems" "" "MHC class II deficiency" "Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood." "" "non-SCID combined immunodeficiency" "" - "immunodeficiency 27A" "" + "immunodeficiency 27A" "True" "inherited susceptibility to mycobacterial diseases" "Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." "" "Beemer-Ertbruggen syndrome" "Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." "" "Behr syndrome" "Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient." "" @@ -10727,7 +10689,7 @@ "microcephalic primordial dwarfism" "" "microcephalic osteodysplastic primordial dwarfism type I" "A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits." "" "microcephalic osteodysplastic primordial dwarfism types I and III" "Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome." "" - "microcephalic osteodysplastic primordial dwarfism type II" "'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'" "" + "microcephalic osteodysplastic primordial dwarfism type II" "A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." "" "microcephalic osteodysplastic primordial dwarfism, type 3" "" "Bangstad syndrome" "Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989." "" "polyendocrinopathy" "" @@ -10771,7 +10733,6 @@ "obsolete carbimazole sensitivity" "" "true" "PMM2-CDG" "PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." "" "disorder of protein N-glycosylation" "A disease that has its basis in the disruption of protein N-linked glycosylation." "" - "congenital disorder of glycosylation with hepatic involvement" "True" "MGAT2-CDG" "MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21)." "" "congenital disorder of glycosylation, type i/IIx" "" "carboxypeptidase N deficiency" "An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity." "" @@ -10784,21 +10745,18 @@ "cardiomyopathy associated with myopathy and sudden death" "" "heart defects-limb shortening syndrome" "Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome." "" "carnitine-acylcarnitine translocase deficiency" "Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." "" - "fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy" "True" + "disorder of fatty acid oxidation and ketogenesis" "" "disorder of carnitine cycle and carnitine transport" "" "systemic primary carnitine deficiency disease" "Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma." "" - "disorder of fatty acid oxidation and ketogenesis" "" "carnitine deficiency, myopathic" "" "carnosinemia" "Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency." "" "homocarnosinosis" "Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant." "" "Sengers syndrome" "Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise." "" "mitochondrial substrate carrier disorder" "" - "disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement" "True" + "disorder of phospholipids, sphingolipids and fatty acids biosynthesis" "" "mitochondrial DNA depletion syndrome" "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome." "" - "cardiac disease with cataract" "True" "autosomal recessive palmoplantar keratoderma and congenital alopecia" "Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." "" "congenital cataract-ichthyosis syndrome" "Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive." "" - "dentocutaneous disease with cataract" "True" "cataract 46 juvenile-onset" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene." "" "COFS syndrome" "Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." "" "Cockayne syndrome" "Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." "" @@ -10817,20 +10775,17 @@ "autosomal recessive degenerative and progressive cerebellar ataxia" "" "isolated cerebellar hypoplasia/agenesis" "Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures." "" "global cerebellar malformation" "" - "endosteal sclerosis-cerebellar hypoplasia syndrome" "Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait." "" - "syndrome with a cerebellar malformation as major feature" "True" + "endosteal sclerosis-cerebellar hypoplasia syndrome" "Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait." "True" "hepatic fibrosis-renal cysts-intellectual disability syndrome" "Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987." "" - "cerebelloparenchymal disorder II" "" + "cerebelloparenchymal disorder II" "True" "autosomal recessive spinocerebellar ataxia 2" "The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training." "" "autosomal recessive congenital cerebellar ataxia" "" "Joubert syndrome 1" "Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene." "" "Joubert syndrome" "Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." "" "cerebral angiopathy, dysphoric" "" "cerebrotendinous xanthomatosis" "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." "" - "sterol metabolism disorder with epilepsy" "True" "inborn disorder of bile acid synthesis" "Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis." "" "cerebral lipidosis with dementia" "" - "metabolic disease with cataract" "True" "cholesterol catabolic process disease" "A disease that has its basis in the disruption of cholesterol catabolic process." "" "cerebral malformation, seizures, hypertrichosis, and overlapping fingers" "" "cerebral sclerosis similar to Pelizaeus-Merzbacher disease" "" @@ -10853,15 +10808,15 @@ "Griscelli syndrome type 1" "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2." "" "Griscelli syndrome" "Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3)." "" "Chediak-Higashi syndrome" "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described." "" + "genetic hemophagocytic lymphohistiocytosis" "Genetic hemophagocytic lymphohistiocytosis." "" "syndromic oculocutaneous albinism" "A oculocutaneous albinism that is part of a larger syndrome." "" "disorder of lysosomal-related organelles" "" - "immunodeficiency syndrome with abnormal pigmentation" "True" "dense granule disease" "" "congenital secretory chloride diarrhea 1" "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene." "" "congenital intestinal transport defect" "" "congenital secretory diarrhea" "" "CHARGE syndrome" "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)." "" - "immunodeficiency due to absence of thymus" "True" + "primary immunodeficiency due to a defect in adaptive immunity" "" "lens shape anomaly" "" "Aagenaes syndrome" "Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life." "" "congenital bile acid synthesis defect 4" "An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease." "" @@ -10901,6 +10856,7 @@ "COACH syndrome 1" "A very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." "" "COACH syndrome" "A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability." "" "Joubert syndrome and related disorders" "Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the \"molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." "" + "obsolete syndrome with a cerebellar malformation as major feature" "" "true" "obsolete Cockayne syndrome A" "" "true" "Cockayne syndrome type 3" "Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood." "" "Cohen syndrome" "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." "" @@ -10957,7 +10913,7 @@ "Fraser syndrome" "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly." "" "cryptorchidism" "The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life." "" "curved nail of fourth toe" "" - "Cushing syndrome due to macronodular adrenal hyperplasia" "ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS." "" + "Cushing syndrome due to macronodular adrenal hyperplasia" "A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS." "" "ACTH-independent Cushing syndrome" "Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC)." "" "Cushing disease due to pituitary adenoma" "Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland." "" "ACTH-dependent Cushing syndrome" "Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH)." "" @@ -11018,7 +10974,7 @@ "dermatoleukodystrophy" "Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood." "" "dermochondrocorneal dystrophy" "Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive." "" "dermatoosteolysis, Kirghizian type" "Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive." "" - "hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia" "Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." "" + "hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia" "Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy." "True" "persistent hyperplastic primary vitreous, autosomal recessive" "Autosomal recessive form of persistent hyperplastic primary vitreous." "" "persistent hyperplastic primary vitreous" "A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)" "" "dextrocardia with unusual facies and microphthalmia" "" @@ -11030,7 +10986,6 @@ "diaphragmatic hernia 2" "" "Donnai-Barrow syndrome" "Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common." "" "trichohepatoenteric syndrome" "A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." "" - "primary immunodeficiency due to a genetic defect in innate immunity" "" "intractable diarrhea of infancy" "Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium." "" "diastematomyelia" "A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida." "" "diastrophic dysplasia" "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)." "" @@ -11043,8 +10998,7 @@ "rhizomelic chondrodysplasia punctata type 2" "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene." "" "glyceronephosphate O-acyltransferase deficiency" "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene." "" "hemolytic anemia due to diphosphoglycerate mutase deficiency" "A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly." "" - "disorder of glycolysis" "" - "hemolytic anemia due to a disorder of glycolytic enzymes" "True" + "anemia due to erythrocyte enzyme disorder" "Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis." "" "congenital sucrase-isomaltase deficiency" "A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose." "" "disorder of carbohydrate absorption and transport" "" "congenital lactase deficiency" "Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." "" @@ -11133,7 +11087,7 @@ "recessive dystrophic epidermolysis bullosa" "Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." "" "junctional epidermolysis bullosa, non-Herlitz type" "Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." "" "junctional epidermolysis bullosa Herlitz type" "Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." "" - "epidermolysis bullosa simplex with muscular dystrophy" "Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy." "" + "epidermolysis bullosa simplex 5B, with muscular dystrophy" "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy." "" "autosomal recessive limb-girdle muscular dystrophy" "Autosomal recessive form of limb-girdle muscular dystrophy." "" "qualitative or quantitative defects of plectin" "" "junctional epidermolysis bullosa with pyloric atresia" "Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." "" @@ -11168,7 +11122,6 @@ "autosomal recessive faciodigitogenital syndrome" "Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." "" "congenital factor V deficiency" "Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms." "" "factor V deficiency" "A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood." "" - "hemorrhagic disorder due to a coagulation factors defect" "True" "congenital factor VII deficiency" "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." "" "congenital vitamin K-dependent coagulation factors deficiency" "Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors." "" "congenital factor X deficiency" "Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms." "" @@ -11198,7 +11151,7 @@ "hyaline fibromatosis syndrome" "" "fibrosclerosis, multifocal" "" "IgG4-related retroperitoneal fibrosis" "Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle." "" - "fibular hypoplasia and complex brachydactyly" "" + "acromesomelic dysplasia 2B" "" "Fuhrmann syndrome" "Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly." "" "Fibulo-ulnar hypoplasia-renal anomalies syndrome" "Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait." "" "congenital high-molecular-weight kininogen deficiency" "A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis." "" @@ -11208,8 +11161,6 @@ "hereditary folate malabsorption" "Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." "" "intestinal disease due to vitamin absorption anomaly" "" "disorder of folate metabolism and transport" "" - "syndrome with combined immunodeficiency" "True" - "constitutional megaloblastic anemia due to folate metabolism disorder" "True" "hypogonadotropic hypogonadism 24 without anosmia" "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene." "" "formiminoglutamic aciduria" "Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia." "" "fountain syndrome" "Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features." "" @@ -11243,12 +11194,11 @@ "gastroschisis" "Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated." "" "primary short bowel syndrome" "" "Gaucher disease type I" "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." "" - "lysosomal disease with restrictive cardiomyopathy" "True" "Gaucher disease" "Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease)." "" "secondary avascular necrosis" "" "avascular necrosis of genetic origin" "An instance of avascular necrosis that is caused by a modification of the individual's genome." "" "Gaucher disease type II" "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." "" - "secondary interstitial lung disease specific to childhood associated with a metabolic disease" "True" + "interstitial lung disease specific to childhood" "A interstitial lung disease that occurs during childhood." "" "Gaucher disease type III" "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." "" "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." "" "geleophysic dysplasia 1" "Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene." "" @@ -11268,7 +11218,6 @@ "monosodium glutamate sensitivity" "" "glutaryl-CoA dehydrogenase deficiency" "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." "" "multiple acyl-CoA dehydrogenase deficiency" "A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." "" - "mitochondrial disease with hypertrophic cardiomyopathy" "True" "glutaric acidemia type 3" "Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive." "" "glutathione synthetase deficiency without 5-oxoprolinuria" "" "inherited glutathione synthetase deficiency" "Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms." "" @@ -11292,15 +11241,13 @@ "GOMBO syndrome" "" "46 XX gonadal dysgenesis" "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." "" "46,XX disorder of gonadal development" "" - "female infertility due to gonadal dysgenesis" "True" "Perrault syndrome 1" "Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene." "" "Perrault syndrome" "Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit." "" "46,XY sex reversal 7" "" "XY type gonadal dysgenesis-associated anomalies syndrome" "Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive." "" - "46,XY disorder of sex development" "Differences of sex development in individuals with 46,XY karyotype." "" "anti-glomerular basement membrane disease" "An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide." "" "predominantly small-vessel vasculitis" "" - "secondary interstitial lung disease in childhood and adulthood associated with a systemic disease" "True" + "obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease" "" "true" "obsolete Gorlin-Chaudhry-Moss syndrome" "" "true" "granulocytopenia with immunoglobulin abnormality" "" "combined immunodeficiency with skin granulomas" "" @@ -11314,14 +11261,13 @@ "Grubben-de Cock-Borghgraef syndrome" "Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients." "" "obsolete GTP-cyclohydrolase I deficiency" "" "true" "congenital factor XII deficiency" "Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions." "" - "hair defect-photosensitivity-intellectual disability syndrome" "Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration." "" - "obsolete nonphotosensitive trichothiodystrophy" "A trichothiodystrophy that is non-photosensitive" "" "true" + "hair defect-photosensitivity-intellectual disability syndrome" "Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration." "True" + "obsolete nonphotosensitive trichothiodystrophy" "OBSOLETE. A trichothiodystrophy that is non-photosensitive" "" "true" "Hallermann-Streiff syndrome" "Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases." "" - "malformation syndrome with short stature" "True" + "obsolete malformation syndrome with short stature" "" "true" "obsolete congenital absence of the eyebrow/eyelashes" "" "true" "obsolete craniofacial anomaly with cataract" "" "true" "pantothenate kinase-associated neurodegeneration" "Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." "" - "disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement" "True" "neurodegeneration with brain iron accumulation" "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." "" "Hall-Riggs syndrome" "Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." "" "hallux varus-preaxial polysyndactyly syndrome" "Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980." "" @@ -11414,7 +11360,7 @@ "hyperostosis corticalis generalisata" "Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies." "" "hyperparathyroidism, neonatal self-limited primary, with hypercalciuria" "" "neonatal severe primary hyperparathyroidism" "Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism." "" - "primary bone dysplasia with defective bone mineralization" "True" + "obsolete primary bone dysplasia with defective bone mineralization" "" "true" "hyperphosphatasia with intellectual disability syndrome 1" "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene." "" "hyperphosphatasia-intellectual disability syndrome" "" "hyperphosphatemia, polyuria, and seizures" "" @@ -11453,8 +11399,8 @@ "antenatal Bartter syndrome" "A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome." "" "hypomandibular faciocranial dysostosis" "Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis." "" "hypoparathyroidism-retardation-dysmorphism syndrome" "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features." "" - "obsolete infantile hypophosphatasia" "Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization." "" "true" - "obsolete childhood hypophosphatasia" "Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait." "" "true" + "obsolete infantile hypophosphatasia" "OBSOLETE. Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization." "" "true" + "obsolete childhood hypophosphatasia" "OBSOLETE. Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait." "" "true" "hypophosphatemia, renal, with intracerebral calcifications" "" "hypophosphatemic rickets, autosomal recessive, 1" "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene." "" "autosomal recessive hypophosphatemic rickets" "Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." "" @@ -11614,14 +11560,12 @@ "mandibulofacial dysostosis with mental deficiency" "" "oculotrichoanal syndrome" "" "alpha-mannosidosis" "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." "" - "cataract associated with a metabolic disease" "True" "beta-mannosidosis" "Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity." "" "inborn disorder of branched-chain amino acid metabolism" "An acquired metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process." "" "Marden-Walker syndrome" "Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." "" "microcephaly-glomerulonephritis-marfanoid habitus syndrome" "This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis." "" "marfanoid habitus-autosomal recessive intellectual disability syndrome" "Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." "" "Marinesco-Sjogren syndrome" "Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development." "" - "cerebral disease with cataract" "True" "mast syndrome" "Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging." "" "pure or complex autosomal recessive spastic paraplegia" "" "Hennekam-Beemer syndrome" "Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive." "" @@ -11758,7 +11702,6 @@ "qualitative or quantitative defects of dysferlin" "" "autosomal recessive limb-girdle muscular dystrophy type 2C" "Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported." "" "qualitative or quantitative defects of gamma-sarcoglycan" "" - "neuromuscular disease with dilated cardiomyopathy" "True" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." "" "myopathy caused by variation in FKTN" "Any myopathy in which the cause of the disease is a variation in the FKTN gene." "" "arthrogryposis due to muscular dystrophy" "" @@ -11798,7 +11741,6 @@ "carnitine palmitoyl transferase 1A deficiency" "Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." "" "inherited fatty acid metabolism disorder" "A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources." "" "hereditary myopathy with lactic acidosis due to ISCU deficiency" "Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase." "" - "mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes" "True" "myopathy with giant abnormal mitochondria" "" "myopathy, myosin storage, autosomal recessive" "" "hyaline body myopathy" "" @@ -11823,7 +11765,6 @@ "Keipert syndrome" "A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis." "" "Nathalie syndrome" "Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother." "" "Bailey-Bloch congenital myopathy" "Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia." "" - "mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies" "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis." "True" "supranuclear oculomotor palsy" "Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement." "" "nail-patella-like renal disease" "Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency." "" "nemaline myopathy 2" "An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness." "" @@ -11838,17 +11779,14 @@ "nephrotic syndrome, type 4" "Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis." "" "hyperinsulinemic hypoglycemia, familial, 1" "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene." "" "Netherton syndrome" "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations." "" - "autosomal ichthyosis syndrome with prominent hair abnormalities" "True" - "genetic keratinization disorder associated with ocular features" "True" "obsolete eyebrow/eyelashes structural anomaly" "" "true" "Neu-Laxova syndrome 1" "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene." "" "galactosialidosis" "A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form." "" - "metabolic disease with macular cherry-red spot" "True" "sialidosis type 2" "A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations." "" "sialidosis" "Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations." "" "obsolete infantile neuroaxonal dystrophy" "" "true" "neurofaciodigitorenal syndrome" "Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997." "" - "neuroblastoma, susceptibility to" "" + "neuroblastoma, susceptibility to, 1" "" "neuroectodermal melanolysosomal disease" "Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment." "" "neurologic disease, infantile multisystem, with osseous fragility" "" "neuronal ceroid lipofuscinosis 1" "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." "" @@ -11887,7 +11825,7 @@ "oculorenocerebellar syndrome" "" "odonto-onycho-dermal dysplasia" "A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair." "" "cloacal exstrophy" "A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." "" - "bladder exstrophy-epispadias-cloacal exstrophy complex" "A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus." "" + "exstrophy-epispadias complex" "A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus." "" "Oguchi disease-1" "Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene." "" "Oguchi disease" "Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon." "" "spermatogenic failure 1" "" @@ -11953,7 +11891,7 @@ "pachyonychia congenita, autosomal recessive" "" "palant cleft palate syndrome" "" "pallidal degeneration, progressive, with retinitis pigmentosa" "True" - "polymalformative genetic syndrome with increased risk of developing cancer" "Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." "True" + "obsolete polymalformative genetic syndrome with increased risk of developing cancer" "OBSOLETE. Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." "" "true" "obsolete pancreatic insufficiency, combined exocrine" "" "true" "subacute sclerosing panencephalitis" "Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex." "" "chronic encephalitis" "Chronic form of encephalitis." "" @@ -11978,14 +11916,12 @@ "mevalonate kinase deficiency" "" "periodontitis, chronic, adult" "" "peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain" "" - "constitutional megaloblastic anemia due to vitamin B12 metabolism disorder" "True" "Imerslund-Grasbeck syndrome" "Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood." "" "peroneus tertius muscle, absence of" "" "d-bifunctional protein deficiency" "A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease." "" "disorder of peroxisomal beta oxidation" "" "Peters plus syndrome" "An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism." "" "persistent Mullerian duct syndrome" "Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys." "" - "46,XY disorder of sex development of endocrine origin" "" "Pfeiffer-Palm-Teller syndrome" "Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." "" "PHAVER syndrome" "Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." "" "phenformin 4-hydroxylation" "" @@ -12001,7 +11937,6 @@ "phosphoenolpyruvate carboxykinase deficiency, cytosolic" "PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2)." "" "lethal congenital glycogen storage disease of heart" "Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene." "" "glycogen storage disease IXb" "Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency." "" - "glycogen storage disease due to phosphorylase kinase deficiency" "A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency." "True" "glycogen storage disease due to liver phosphorylase kinase deficiency" "A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." "" "isolated Pierre-Robin syndrome" "Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft." "" "pili torti" "Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome." "" @@ -12044,7 +11979,6 @@ "polysyndactyly-cardiac malformation syndrome" "Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts)." "" "Bartsocas-Papas syndrome" "Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." "" "cutaneous porphyria" "Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis." "" - "anemia due to erythrocyte enzyme disorder" "Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis." "" "postaxial acrofacial dysostosis" "Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." "" "Gitelman syndrome" "Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion." "" "urban-Rogers-Meyer syndrome" "This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity." "" @@ -12060,7 +11994,6 @@ "46,XX disorder of sex development-skeletal anomalies syndrome" "" "46,XX disorder of sex development" "Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures." "" "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production." "" - "46,XY disorder of sex development due to testicular steroidogenesis defect" "True" "autosomal recessive pseudohypoaldosteronism type 1" "Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs." "" "fundus dystrophy, pseudoinflammatory, recessive form" "" "peroxisomal acyl-CoA oxidase deficiency" "Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." "" @@ -12068,7 +12001,6 @@ "holoprosencephaly-postaxial polydactyly syndrome" "Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13." "" "Pseudouridinuria and mental defect" "" "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency" "A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis." "" - "46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue" "True" "vitamin D-dependent rickets, type 1" "Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." "" "hypocalcemic rickets" "Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR)." "" "vitamin D-dependent rickets" "" @@ -12100,7 +12032,6 @@ "pyridoxine-dependent epilepsy" "A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6)." "" "inborn disorder of pyridoxine metabolism" "An acquired metabolic disease that is has its basis in the disruption of pyridoxine metabolic process." "" "hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported." "" - "hemolytic anemia due to an erythrocyte nucleotide metabolism disorder" "True" "glutathione synthetase deficiency with 5-oxoprolinuria" "" "pyropoikilocytosis, hereditary" "An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency." "" "pyruvate carboxylase deficiency disease" "Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." "" @@ -12110,13 +12041,15 @@ "congenital radioulnar synostosis" "Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living." "" "leukocyte adhesion deficiency type II" "Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." "" "Ramon syndrome" "" - "malformation syndrome with odontal and/or periodontal component" "True" + "obsolete malformation syndrome with odontal and/or periodontal component" "" "true" "rapadilino syndrome" "RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence." "" "red skin pigment anomaly of new guinea" "" "Reese retinal dysplasia" "" "adult Refsum disease" "A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues." "" "phytanoyl-CoA hydroxylase deficiency" "Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene." "" - "metabolic disease with pigmentary retinitis" "True" + "obsolete autosomal ichthyosis syndrome with prominent neurologics signs" "" "true" + "obsolete cataract associated with a metabolic disease" "" "true" + "obsolete metabolic disease with pigmentary retinitis" "" "true" "peroxisome biogenesis disorder type 3B" "A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation." "" "peroxisome biogenesis disorder due to PEX12 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene." "" "inflammatory bowel disease 1" "Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene." "" @@ -12138,7 +12071,6 @@ "pediatric acute respiratory distress syndrome" "Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded." "" "respiratory underresponsiveness to hypoxia and hypercapnia" "" "familial hemophagocytic lymphohistiocytosis type 1" "Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth." "" - "genetic hemophagocytic lymphohistiocytosis" "Genetic hemophagocytic lymphohistiocytosis." "" "reticulum cell sarcoma" "An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes." "" "retinal degeneration and epilepsy" "" "Knobloch syndrome" "Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele." "" @@ -12163,7 +12095,9 @@ "rhizomelic syndrome, Urbach type" "Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies." "" "Roberts syndrome" "Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS." "" "Roberts-SC phocomelia syndrome" "A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities." "" + "obsolete syndrome with limb reduction defects" "" "true" "obsolete dysostosis of genetic origin with limb anomaly as a major feature" "True" "true" + "obsolete musculoskeletal disease with cataract" "" "true" "Richieri Costa-Pereira syndrome" "Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive." "" "autosomal recessive Robinow syndrome" "Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." "" "rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction" "" @@ -12225,7 +12159,7 @@ "spastic diplegia and intellectual disability" "" "hereditary spastic paraplegia 17" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene." "" "hereditary spastic paraplegia 15" "Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding." "" - "obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome" "This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely." "" "true" + "obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome" "OBSOLETE. This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely." "" "true" "hereditary spastic paraplegia 23" "Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32." "" "hereditary spastic paraplegia 5A" "Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients." "" "spastic paraplegia with myoclonic epilepsy" "" @@ -12264,7 +12198,7 @@ "spondyloperipheral dysplasia-short ulna syndrome" "An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia." "" "Canavan disease" "A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." "" "inborn aminoacylase deficiency" "An acquired metabolic disease that is has its basis in the disruption of aminoacylase activity." "" - "amino acid or protein metabolism disease with epilepsy" "True" + "obsolete amino acid or protein metabolism disease with epilepsy" "" "true" "familial infantile bilateral striatal necrosis" "The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." "" "infantile bilateral striatal necrosis" "Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic." "" "subaortic stenosis, membranous" "" @@ -12274,7 +12208,7 @@ "sucrosuria, hiatus hernia and intellectual disability" "" "Schilder disease" "Schilder's disease is a progressive demyelinating disorder of the central nervous system." "" "multiple sclerosis variant" "" - "obsolete sudden infant death syndrome" "Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource." "" "true" + "obsolete sudden infant death syndrome" "OBSOLETE. Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource." "" "true" "Sugarman brachydactyly" "Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982." "" "mucosulfatidosis" "Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus." "" "isolated sulfite oxidase deficiency" "" @@ -12303,7 +12237,7 @@ "tetraamelia-multiple malformations syndrome" "Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." "" "odontotrichomelic syndrome" "Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive." "" "thalamic degeneration, symmetric infantile" "" - "thalidomide susceptibility" "" + "thalidomide susceptibility" "True" "thanatophoric dysplasia, Glasgow variant" "" "thoracic dysplasia-hydrocephalus syndrome" "" "thoracomelic dysplasia" "" @@ -12315,7 +12249,6 @@ "congenital thrombotic thrombocytopenic purpura" "Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity." "" "thrombotic thrombocytopenic purpura" "Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP." "" "absent thumb-short stature-immunodeficiency syndrome" "An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978." "" - "primary immunodeficiency due to a defect in adaptive immunity" "" "thumb, distal hyperextensibility of" "" "upper limb defect-eye and ear abnormalities syndrome" "Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." "" "thymic aplasia with fetal death" "" @@ -12325,7 +12258,7 @@ "dihydropyrimidine dehydrogenase deficiency" "Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner." "" "thyroid hormone resistance, generalized, autosomal recessive" "A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum." "" "familial thyroid dyshormonogenesis" "A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." "" - "primary congenital hypothyroidism without thyroid developmental anomaly" "Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal." "True" + "primary congenital hypothyroidism" "Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." "" "thyroid dyshormonogenesis 2A" "Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase." "" "Pendred syndrome" "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." "" "thyroid dyshormonogenesis 3" "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene." "" @@ -12386,7 +12319,7 @@ "oculogastrointestinal muscular dystrophy" "Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." "" "hypercarotenemia and vitamin A deficiency, autosomal recessive" "" "methylmalonic aciduria and homocystinuria type cblF" "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner." "" - "methylmalonic acidemia with homocystinuria" "Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ)." "" + "methylmalonic aciduria and homocystinuria" "An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ)." "" "methylmalonic aciduria and homocystinuria type cblC" "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner." "" "methylmalonic aciduria and homocystinuria type cblD" "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." "" "vitamin D-dependent rickets, type 2A" "Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia." "" @@ -12490,6 +12423,8 @@ "prostate cancer, hereditary, X-linked 1" "" "familial prostate carcinoma" "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." "" "MEHMO syndrome" "MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction." "" + "obsolete mitochondrial disease with epilepsy" "" "true" + "obsolete mitochondrial disease with peripheral neuropathy" "" "true" "retinitis pigmentosa 24" "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27." "" "arthrogryposis, congenital, lower limb, X-linked" "" "microphthalmia, syndromic 2" "" @@ -12572,10 +12507,9 @@ "X-linked intellectual disability, Stocco dos Santos type" "" "intellectual disability, X-linked 46" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene." "" "HSD10 mitochondrial disease" "HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy." "" - "syndromic neurometabolic disease with X-linked intellectual disability" "True" "alpha-thalassemia-myelodysplastic syndrome" "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH)." "" "intellectual disability, X-linked 77" "" - "obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome" "Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." "" "true" + "obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome" "OBSOLETE. Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." "" "true" "coronary heart disease, susceptibility to, 3" "" "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome" "An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive." "" "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome" "Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." "" @@ -12764,7 +12698,7 @@ "intellectual disability, X-linked 99" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene." "" "intellectual disability, X-linked 100" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene." "" "intellectual disability, X-linked 101" "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene." "" - "SSR4-CDG" "(Xq28)." "" + "SSR4-CDG" "A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28)." "" "X-linked acrogigantism due to Xq26 microduplication" "" "familial infantile gigantism" "" "pituitary adenoma, growth hormone-secreting, 2" "Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene." "" @@ -12823,7 +12757,6 @@ "X-linked calvarial hyperostosis" "" "qualitative or quantitative defects of dystrophin" "" "Barth syndrome" "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." "" - "mitochondrial disease with dilated cardiomyopathy" "True" "cataract 40" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene." "" "Nance-Horan syndrome" "Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism." "" "central incisors, absence of" "" @@ -12887,7 +12820,7 @@ "glycogen storage disease IXa1" "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes." "" "granulomas, congenital cerebral" "" "granulomatous disease, chronic, X-linked" "" - "obsolete gynecomastia, familial" "An instance of gynecomastia that is caused by an inherited modification of the individual's genome." "" "true" + "obsolete gynecomastia, familial" "OBSOLETE. An instance of gynecomastia that is caused by an inherited modification of the individual's genome." "" "true" "hemophilia A" "The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." "" "hemophilia" "Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency." "" "hemophilia A with vascular abnormality" "" @@ -12898,7 +12831,6 @@ "Hhhh syndrome" "" "obsolete Hirschsprung disease with type d brachydactyly" "" "true" "holoprosencephaly-hypokinesia-congenital contractures syndrome" "An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested." "" - "central nervous system malformation" "" "hydrocephaly-cerebellar agenesis syndrome" "This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported." "" "inborn disorder of glycerol metabolism" "An acquired metabolic disease that is has its basis in the disruption of glycerol metabolic process." "" "X-linked congenital generalized hypertrichosis" "X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." "" @@ -12935,7 +12867,6 @@ "Leber hereditary optic neuropathy" "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." "" "Lesch-Nyhan phenotype with normal HGPRT" "" "proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis" "" - "renal disease with cataract" "True" "macular dystrophy, X-linked" "" "spermatogenic failure, X-linked, 2" "Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene." "" "major affective disorder 2" "" @@ -12966,7 +12897,10 @@ "microphthalmia, syndromic 1" "" "modifier, X-linked, for Neurofunctional defects" "" "mucopolysaccharidosis type 2" "A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." "" - "lysosomal disease with hypertrophic cardiomyopathy" "True" + "obsolete syndromic neurometabolic disease with X-linked intellectual disability" "" "true" + "obsolete lysosomal disease with hypertrophic cardiomyopathy" "" "true" + "obsolete metabolic disease with skin involvement" "" "true" + "obsolete lysosomal storage disease with skeletal involvement" "" "true" "muscular dystrophy, cardiac type" "" "muscular dystrophy, Hemizygous lethal type" "" "muscular dystrophy, Mabry type" "" @@ -13040,7 +12974,7 @@ "hereditary thrombocytopenia with normal platelets" "" "thrombocytopenia with elevated serum IgA and renal disease" "" "beta-thalassemia-X-linked thrombocytopenia syndrome" "Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia." "" - "beta-thalassemia with other manifestations" "Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder." "True" + "beta-thalassemia and related diseases" "" "thumbs, congenital Clasped" "" "X-linked dystonia-parkinsonism" "X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." "" "torticollis-keloids-cryptorchidism-renal dysplasia syndrome" "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies." "" @@ -13076,17 +13010,15 @@ "hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial" "" "cardiomyopathy, infantile hypertrophic" "" "cyclic vomiting syndrome" "A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting." "" - "prelingual non-syndromic genetic hearing loss" "Prelingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition." "" + "prelingual non-syndromic genetic hearing loss" "A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition." "" "postlingual non-syndromic genetic hearing loss" "Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed." "" "mitochondrial myopathy with reversible cytochrome C oxidase deficiency" "" "ataxia and polyneuropathy, adult-onset" "" "myopathy, lactic acidosis, and sideroblastic anemia 3" "" - "Alzheimer disease, susceptibility to, mitochondrial" "" + "Alzheimer disease, susceptibility to, mitochondrial" "True" "chloramphenicol toxicity" "" "maternally-inherited diabetes and deafness" "Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness." "" - "mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA" "True" "chronic diarrhea with villous atrophy" "Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994." "" - "mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA" "True" "Kearns-Sayre syndrome" "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." "" "MELAS syndrome" "MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations." "" "MERRF syndrome" "A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy." "" @@ -13096,7 +13028,9 @@ "NARP syndrome" "Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." "" "Parkinson disease, mitochondrial" "" "Pearson syndrome" "Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction." "" - "syndrome with hypoparathyroidism" "True" + "obsolete metabolic disorder with intestinal involvement" "OBSOLETE. A metabolic disease that involves the intestine." "" "true" + "obsolete syndrome with hypoparathyroidism" "" "true" + "obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA" "" "true" "proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome" "Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus." "" "deafness, aminoglycoside-induced" "" "Wolfram syndrome, mitochondrial form" "" @@ -13193,7 +13127,7 @@ "hereditary spastic paraplegia 6" "Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment." "" "CODAS syndrome" "Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies." "" "telangiectasia, hereditary hemorrhagic, type 2" "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene." "" - "mesomelia-synostoses syndrome" "Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." "" + "mesomelia-synostoses syndrome" "A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." "" "aphalangy-syndactyly-microcephaly syndrome" "Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability." "" "pectus excavatum-macrocephaly-dysplastic nails syndrome" "Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992." "" "muscular dystrophy, scapulohumeral" "" @@ -13297,7 +13231,7 @@ "nephrotic syndrome, type 2" "Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene." "" "familial idiopathic steroid-resistant nephrotic syndrome" "Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset." "" "arrhythmogenic right ventricular dysplasia 2" "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the RYR2 gene." "" - "KRT14-related epidermolysis bullosa simplex" "KRT14-related epidermolysis bullosa simplex (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering." "" + "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive" "A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering." "" "Brody myopathy" "Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder." "" "qualitative or quantitative defects of protein SERCA1" "" "portal vein, cavernous transformation of" "" @@ -13349,7 +13283,6 @@ "type 1 diabetes mellitus 11" "A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31." "" "Naxos disease" "Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma." "" "arrhythmogenic right ventricular cardiomyopathy" "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death." "" - "syndrome with woolly hair" "True" "cardioectodermal syndrome" "Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation." "" "brachyolmia-amelogenesis imperfecta syndrome" "An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition." "" "alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome" "This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism." "" @@ -13447,7 +13380,7 @@ "Stüve-Wiedemann syndrome" "A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality." "" "multiple epiphyseal dysplasia, Lowry type" "Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus." "" "dyssegmental dysplasia-glaucoma syndrome" "This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children." "" - "horns in sheep" "" + "horns in sheep" "True" "Wilms tumor 5" "Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene." "" "Charcot-Marie-Tooth disease type 4C" "Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported." "" "familial multiple trichoepithelioma" "" @@ -13475,8 +13408,7 @@ "systemic lupus erythematosus, susceptibility to, 1" "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene." "" "preaxial hallucal polydactyly" "" "diabetic embryopathy" "Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother." "" - "benign familial neonatal-infantile seizures" "Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant." "True" - "benign familial infantile epilepsy" "Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." "" + "obsolete benign familial neonatal-infantile seizures" "" "true" "megaloblastic anemia, folate-responsive" "" "Ehlers-Danlos syndrome, musculocontractural type" "Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations." "" "cone-rod dystrophy 6" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." "" @@ -13485,7 +13417,6 @@ "colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome" "" "tetrasomy 12p" "Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p." "" "partial trisomy/tetrasomy of the short arm of chromosome 12" "" - "chromosomal disease with overgrowth" "True" "chromosome 18q deletion syndrome" "A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts." "" "Spondylospinal thoracic dysostosis" "Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life." "" "premature aging syndrome, Okamoto type" "" @@ -13572,6 +13503,7 @@ "hemochromatosis type 2" "Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin." "" "desmosterolosis" "Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol." "" "autosomal recessive congenital ichthyosis 11" "" + "obsolete autosomal ichthyosis syndrome with prominent hair abnormalities" "" "true" "Fried's tooth and nail syndrome" "" "parkinson disease 3, autosomal dominant" "" "Weyers ulnar ray/oligodactyly syndrome" "" @@ -13593,6 +13525,7 @@ "pelvic dysplasia-arthrogryposis of lower limbs syndrome" "" "hyperinsulinism due to glucokinase deficiency" "Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae." "" "diazoxide-sensitive diffuse hyperinsulinism" "" + "disorder of glycolysis" "" "hyperlipidemia, combined, 1" "Any familial combined hyperlipidemia in which the cause of the disease is a mutation in the USF1 gene." "" "chondrodysplasia punctata, brachytelephalangic, autosomal" "" "colobomatous macrophthalmia-microcornea syndrome" "" @@ -13617,7 +13550,6 @@ "mandibulofacial dysostosis-macroblepharon-macrostomia syndrome" "" "emphysema, congenital, with deafness, penoscrotal web, and intellectual disability" "" "MPI-CDG" "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)." "" - "congenital disorder of glycosylation with intestinal involvement" "True" "branchiootic syndrome 1" "Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene." "" "retinitis pigmentosa 22" "A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1." "" "pancreatic lymphoma, familial" "An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome." "" @@ -13638,7 +13570,7 @@ "retinitis pigmentosa 25" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene." "" "H syndrome" "H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." "" "Muenke syndrome" "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." "" - "acromesomelic dysplasia, Maroteaux type" "A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type." "" + "acromesomelic dysplasia 1, Maroteaux type" "A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type." "" "orofacial cleft 2" "" "obsolete leukoregulin" "" "true" "obsolete bile duct cysts" "" "true" @@ -13684,7 +13616,7 @@ "osteosclerotic chondrodysplasia, lethal, with intracellular inclusions" "" "microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects" "" "Tonoki syndrome" "" - "activator of liver function 1" "" + "activator of liver function 1" "True" "radioulnar synostosis-microcephaly-scoliosis syndrome" "An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit." "" "expansile bone lesions" "" "Oroacral syndrome, Verloes-Koulischer type" "" @@ -13755,7 +13687,6 @@ "leukoencephalopathy with vanishing white matter" "A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect." "" "dominant beta-thalassemia" "Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia." "" "sickle cell disease and related diseases" "" - "hematological disorder with renal involvement" "True" "autoimmune lymphoproliferative syndrome type 2A" "A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." "" "hypertension, essential, susceptibility to, 1" "" "intervertebral disc degenerative disorder" "Any disease of a degenerative nature that affects the intervertebral disc." "" @@ -13792,7 +13723,7 @@ "familial encephalopathy with neuroserpin inclusion bodies" "" "cataract 9 multiple types" "Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene." "" "Peters anomaly" "Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." "" - "corneoiridogoniodysgenesis" "" + "corneoiridogoniodysgenesis" "True" "Leber congenital amaurosis 3" "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene." "" "generalized epilepsy with febrile seizures plus, type 1" "" "generalized epilepsy with febrile seizures plus" "A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS)." "" @@ -13812,7 +13743,7 @@ "Ascaris lumbricoides infection, susceptibility to" "" "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3" "Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene." "" "juvenile idiopathic arthritis" "Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases)." "" - "secondary interstitial lung disease specific to childhood associated with a connective tissue disease" "True" + "obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease" "" "true" "pulverulent cataract" "A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33." "" "MASS syndrome" "A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms." "" "blepharophimosis - intellectual disability syndrome, Verloes type" "" @@ -13889,7 +13820,7 @@ "Okamoto syndrome" "Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported." "" "Becker nevus syndrome" "Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual." "" "wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia" "Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999." "" - "malformative syndrome with dentinogenesis imperfecta" "True" + "obsolete malformative syndrome with dentinogenesis imperfecta" "" "true" "Wolfram syndrome 2" "Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene." "" "cortisone reductase deficiency 1" "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency." "" "NDE1-related microhydranencephaly" "NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae." "" @@ -13976,6 +13907,7 @@ "late-onset retinal degeneration" "Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease." "" "cerebellar ataxia and hypergonadotropic hypogonadism" "" "arrhythmogenic cardiomyopathy with woolly hair and keratoderma" "A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including woolly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features." "" + "obsolete syndrome with woolly hair" "" "true" "multiple mitochondrial dysfunctions syndrome 1" "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene." "" "fatal multiple mitochondrial dysfunctions syndrome" "Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual." "" "cerebral amyloid angiopathy, APP-related" "A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3." "" @@ -13990,6 +13922,7 @@ "cataract 26 multiple types" "A cataract that has material basis in variation in the region 9q13-q22." "" "exudative vitreoretinopathy 3" "" "seizures, benign familial infantile, 2" "" + "benign familial infantile epilepsy" "Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." "" "ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis" "" "nonsyndromic congenital nail disorder 7" "" "atopic dermatitis 2" "Any atopic eczema in which the cause of the disease is a mutation in the FLG gene." "" @@ -14079,8 +14012,9 @@ "autosomal dominant intermediate Charcot-Marie-Tooth disease" "Autosomal dominant form of intermediate Charcot-Marie-Tooth disease." "" "Charcot-Marie-Tooth Disease, axonal, type 2GG" "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards." "" "PHACE syndrome" "PHACE is an acronym used to describe a syndrome characterised by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery." "" - "vascular tumor with associated anomalies" "True" - "obsolete genetic vascular tumor" "An instance of rare vascular tumor that is caused by a modification of the individual's genome." "" "true" + "obsolete vascular tumor with associated anomalies" "" "true" + "obsolete genetic vascular tumor" "OBSOLETE. An instance of rare vascular tumor that is caused by a modification of the individual's genome." "" "true" + "obsolete palpebral tumor with a vascular malformation" "" "true" "Megarbane syndrome" "" "homozygous 11P15-p14 deletion syndrome" "" "autosomal recessive congenital ichthyosis 3" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene." "" @@ -14109,7 +14043,7 @@ "spongiform encephalopathy with neuropsychiatric features" "" "glaucoma 1, open angle, B" "" "Kufor-Rakeb syndrome" "Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment." "" - "familial dyskinesia and facial myokymia" "Familial dyskinesia and facial myokymia (FDFM) is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness." "" + "familial dyskinesia and facial myokymia" "Familial dyskinesia and facial myokymia (FDFM) is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness." "True" "autosomal dominant nonsyndromic hearing loss 36" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." "" "split hand-foot malformation 5" "Split-hand/foot malformation mapped to chromosome 2q31." "" "specific language impairment 1" "" @@ -14197,7 +14131,7 @@ "obsolete deafness, autosomal recessive" "" "true" "thyroid dyshormonogenesis 6" "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene." "" "celiac disease, susceptibility to, 5" "" - "obsolete Dravet syndrome" "Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." "" "true" + "obsolete Dravet syndrome" "OBSOLETE. Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." "" "true" "anonychia-microcephaly syndrome" "Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth." "" "epilepsy, partial, with pericentral spikes" "" "infantile-onset ascending hereditary spastic paralysis" "Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." "" @@ -14257,7 +14191,7 @@ "myoclonic dystonia 15" "A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11." "" "migraine with or without aura, susceptibility to, 3" "" "bulimia nervosa, susceptibility to, 1" "" - "migraine without aura, susceptibility to, 4" "A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms." "" + "migraine without aura, susceptibility to, 4" "An inherited susceptibility or predisposition to developing migraines without aura." "" "migraine without aura" "A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms." "" "headache associated with sexual activity" "" "psoriatic arthritis" "Joint inflammation associated with psoriasis." "" @@ -14277,7 +14211,7 @@ "hereditary spastic paraplegia 24" "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14." "" "prostate cancer aggressiveness quantitative trait locus on chromosome 19" "" "immunodeficiency, common variable, 1" "" - "obsolete COL4A1-related familial vascular leukoencephalopathy" "A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34." "" "true" + "obsolete COL4A1-related familial vascular leukoencephalopathy" "OBSOLETE. A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34." "" "true" "pontocerebellar hypoplasia type 1A" "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene." "" "pontocerebellar hypoplasia type 1" "Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." "" "microphthalmia with cyst, bilateral facial clefts, and limb anomalies" "" @@ -14313,7 +14247,6 @@ "idiopathic hypereosinophilic syndrome" "" "Parkinson disease 11, autosomal dominant, susceptibility to" "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the GIGYF2 gene." "" "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome" "Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described." "" - "hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism" "True" "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive" "" "Noonan syndrome-like disorder with loose anagen hair" "Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays." "" "porokeratosis 4, disseminated superficial actinic type" "" @@ -14626,6 +14559,7 @@ "neuronal ceroid lipofuscinosis 9" "Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "" "obsolete Amish infantile epilepsy syndrome" "" "true" "nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome" "" + "epidermolysis bullosa simplex" "Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." "" "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" "Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement." "" "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome" "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis." "" "neonatal diabetes mellitus" "Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life." "" @@ -14700,7 +14634,7 @@ "hereditary spastic paraplegia 28" "Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs." "" "autosomal recessive pure spastic paraplegia" "Autosomal recessive form of pure hereditary spastic paraplegia." "" "Cerebrorenodigital syndrome" "" - "epidermolysis bullosa simplex with circinate migratory erythema" "Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." "" + "epidermolysis bullosa simplex 2E, with migratory circinate erythema" "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." "" "colloid cysts of third ventricle" "Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening." "" "cataract 35" "A cataract that has material basis in variation in the region 19q13." "" "autism, susceptibility to, 6" "" @@ -14716,7 +14650,7 @@ "mesoaxial synostotic syndactyly with phalangeal reduction" "Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." "" "intellectual disability, keratoconus, febrile seizures, and sinoatrial block" "" "autosomal recessive nonsyndromic hearing loss 48" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene." "" - "acromesomelic dysplasia, Demirhan type" "" + "acromesomelic dysplasia 3" "" "fetal valproate syndrome" "Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication)." "" "fetal anticonvulsant syndrome" "" "generalized epilepsy-paroxysmal dyskinesia syndrome" "Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant." "" @@ -14973,7 +14907,7 @@ "chilblain lupus 1" "Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene." "" "chilblain lupus" "A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative." "" "familial chilblain lupus" "An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome." "" - "mutagen sensitivity" "True" + "obsolete mutagen sensitivity" "" "true" "normophosphatemic familial tumoral calcinosis" "" "familial tumoral calcinosis" "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis." "" "thiopurine S-methyltransferase deficiency" "An acquired metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity." "" @@ -14998,7 +14932,7 @@ "chromosome 16p13.3 deletion syndrome" "" "insulin-resistance syndrome type A" "Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight." "" "herpes simplex encephalitis" "Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness." "" - "infectious disease with epilepsy" "True" + "obsolete infectious disease with epilepsy" "" "true" "obsolete infectious disease with dementia" "" "true" "diabetes mellitus, transient neonatal, 3" "Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene." "" "retinitis pigmentosa 36" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene." "" @@ -15038,7 +14972,6 @@ "cerebrooculofacioskeletal syndrome 4" "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene." "" "Cornelia de Lange syndrome 3" "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene." "" "DK1-CDG" "DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity." "" - "congenital disorder of glycosylation with dilated cardiomyopathy" "True" "cardiomyopathy-hypotonia-lactic acidosis syndrome" "Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter." "" "epiphyseal dysplasia, Baumann type" "" "primary immunodeficiency syndrome due to p14 deficiency" "Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections." "" @@ -15148,6 +15081,7 @@ "lethal congenital contracture syndrome 3" "Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement." "" "Mungan syndrome" "" "brachydactyly type B2" "Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness." "" + "obsolete syndrome with brachydactyly" "OBSOLETE. Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis." "" "true" "age related macular degeneration 9" "Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene." "" "susceptibility to visceral leishmaniasis, 2" "" "susceptibility to visceral leishmaniasis, 3" "" @@ -15190,7 +15124,6 @@ "Waardenburg syndrome type 2E" "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene." "" "autosomal recessive limb-girdle muscular dystrophy type 2M" "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." "" "renal tubular acidosis, distal, 4, with hemolytic anemia" "Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia." "" - "constitutional hemolytic anemia due to membrane defect" "A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis." "True" "cataract 12 multiple types" "A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22." "" "celiac disease, susceptibility to, 6" "" "lissencephaly due to TUBA1A mutation" "Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." "" @@ -15218,6 +15151,7 @@ "familial cold autoinflammatory syndrome 2" "An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month." "" "lipoprotein glomerulopathy" "" "autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome" "Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures." "" + "COL4A1 or COL4A2-related cerebral small vessel disease" "" "mucocutaneous lymph node syndrome" "Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood." "" "Brugada syndrome 2" "Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene." "" "erythrocytosis, familial, 4" "Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene." "" @@ -15226,7 +15160,8 @@ "tremor, hereditary essential, and idiopathic normal pressure hydrocephalus" "" "autosomal recessive bestrophinopathy" "Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." "" "SERKAL syndrome" "SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs." "" - "Temple-Baraitser syndrome" "Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients." "" + "Temple-Baraitser syndrome" "A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients." "" + "KCNH1 associated disorder" "Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently." "" "long QT syndrome 9" "Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene." "" "long QT syndrome 10" "Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene." "" "long QT syndrome 11" "Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene." "" @@ -15299,7 +15234,7 @@ "hypertrophic cardiomyopathy 12" "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene." "" "childhood onset GLUT1 deficiency syndrome 2" "Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." "" "ectodermal dysplasia and immunodeficiency 2" "" - "epidermolysis bullosa simplex with pyloric atresia" "Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." "" + "epidermolysis bullosa simplex 5C, with pyloric atresia" "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." "" "dilated cardiomyopathy 1AA" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene." "" "histiocytoma, Angiomatoid fibrous" "A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare." "" "aneurysm, intracranial berry, 7" "" @@ -15363,7 +15298,7 @@ "hereditary spastic paraplegia 38" "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15." "" "thrombophilia due to protein S deficiency, autosomal dominant" "Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency." "" "hereditary thrombophilia due to congenital protein S deficiency" "Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S." "" - "obsolete thrombotic disorder due to an acquired coagulation factors defect" "An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual." "True" "true" + "obsolete thrombotic disorder due to an acquired coagulation factors defect" "OBSOLETE. An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual." "True" "true" "intellectual disability, autosomal dominant 22" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene." "" "chromosome 2q31.2 deletion syndrome" "" "Jervell and Lange-Nielsen syndrome 2" "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene." "" @@ -15488,7 +15423,6 @@ "episodic ataxia type 6" "Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." "" "cone-rod dystrophy 12" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene." "" "PHARC syndrome" "Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life." "" - "disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement" "True" "hereditary spherocytosis type 5" "Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene." "" "bilateral parasagittal parieto-occipital polymicrogyria" "" "agammaglobulinemia 6, autosomal recessive" "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene." "" @@ -15598,7 +15532,7 @@ "primary biliary cholangitis 3" "" "lymphoproliferative syndrome 1" "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.." "" "autosomal recessive lymphoproliferative disease" "A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia." "" - "Hirschsprung disease-ganglioneuroblastoma syndrome" "" + "Hirschsprung disease-ganglioneuroblastoma syndrome" "A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated." "" "neuroblastoma, susceptibility to, 3" "Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene." "" "neuroblastoma, susceptibility to, 4" "" "neuroblastoma, susceptibility to, 5" "" @@ -15665,7 +15599,7 @@ "neuropathy, hereditary sensory and autonomic, type 2B" "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene." "" "hereditary sensory and autonomic neuropathy type 2" "Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia." "" "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency" "" - "antithrombin III deficiency" "A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism." "" + "hereditary antithrombin deficiency" "A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)." "" "Brugada syndrome 6" "Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene." "" "Brugada syndrome 7" "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene." "" "dilated cardiomyopathy 1CC" "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene." "" @@ -15699,7 +15633,7 @@ "cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies" "A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13" "" "purine nucleoside phosphorylase deficiency" "Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations." "" "polymicrogyria with optic nerve hypoplasia" "A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction." "" - "cerebral malformation with epilepsy" "True" + "obsolete cerebral malformation with epilepsy" "" "true" "intellectual disability, autosomal recessive 13" "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene." "" "primary ciliary dyskinesia 13" "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene." "" "retinitis pigmentosa 50" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene." "" @@ -15900,7 +15834,7 @@ "spastic ataxia 4" "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene." "" "congenital dyserythropoietic anemia type 4" "Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." "" "vesicoureteral reflux 3" "Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene." "" - "chromosome 17q11.2 deletion syndrome, 1.4Mb" "17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas." "" + "chromosome 17q11.2 deletion syndrome, 1.4Mb" "A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas." "" "Seckel syndrome 4" "Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene." "" "familial hyperaldosteronism type III" "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia." "" "brachyolmia, Maroteaux type" "Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias." "" @@ -16168,7 +16102,7 @@ "hypertelorism-preauricular sinus-punctual pits-deafness syndrome" "" "craniosynostosis and dental anomalies" "" "pigmented nodular adrenocortical disease, primary, 3" "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene." "" - "overgrowth-macrocephaly-facial dysmorphism syndrome" "This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism." "True" + "obsolete overgrowth-macrocephaly-facial dysmorphism syndrome" "" "true" "craniofacial anomalies and anterior segment dysgenesis syndrome" "" "nephrotic syndrome, type 6" "Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene." "" "congenital myasthenic syndrome 16" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene." "" @@ -16218,7 +16152,6 @@ "Barrett esophagus" "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" "" "platelet-activating factor acetylhydrolase deficiency" "" "46,XY disorder of sex development due to testicular 17,20-desmolase deficiency" "" - "46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect" "True" "46,XY disorder of sex development due to isolated 17,20-lyase deficiency" "46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels." "" "epilepsy, juvenile myoclonic, susceptibility to, 9" "" "Stickler syndrome, type 5" "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene." "" @@ -16292,7 +16225,7 @@ "pregnancy loss, recurrent, susceptibility to, 3" "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene." "" "MEGF10-Related Myopathy" "" "glucocorticoid therapy, response to" "" - "accelerated tumor formation, susceptibility to" "" + "accelerated tumor formation, susceptibility to" "True" "microphthalmia, syndromic 11" "Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene." "" "microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome" "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern." "" "myopathy, centronuclear, 3" "Any autosomal dominant centronuclear myopathy in which the cause of the disease is a mutation in the MYF6 gene." "" @@ -16532,7 +16465,6 @@ "peroxisome biogenesis disorder due to PEX14 defect" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene." "" "immunodeficiency 28" "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene." "" "mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency" "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene." "" - "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" "Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency." "True" "mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene." "" "mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." "" "mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency" "A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG)." "" @@ -16593,7 +16525,7 @@ "autosomal recessive congenital ichthyosis 10" "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene." "" "Charcot-Marie-Tooth disease axonal type 2Q" "Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment." "" "maternal riboflavin deficiency" "" - "epidermolysis bullosa simplex due to exophilin 5 deficiency" "" + "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive" "" "hereditary spastic paraplegia 56" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene." "" "hereditary spastic paraplegia 49" "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene." "" "autism, susceptibility to, 18" "" @@ -16659,7 +16591,6 @@ "cataract 39 multiple types" "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene." "" "dyskeratosis congenita, autosomal recessive 5" "A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33." "" "cobblestone lissencephaly without muscular or ocular involvement" "Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures." "" - "cobblestone lissencephaly" "Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent." "" "platelet-type bleeding disorder 15" "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene." "" "restless legs syndrome, susceptibility to, 8" "" "osteosclerotic metaphyseal dysplasia" "" @@ -16766,7 +16697,7 @@ "myopia 22, autosomal dominant" "" "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2" "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene." "" "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3" "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene." "" - "epidermolysis bullosa simplex due to BP230 deficiency" "" + "epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency" "" "amyotrophic lateral sclerosis type 20" "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene." "" "autosomal recessive nonsyndromic hearing loss 88" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene." "" "myopia 23, autosomal recessive" "" @@ -16992,6 +16923,7 @@ "ovarioleukodystrophy" "" "familial median cleft of the upper and lower lips" "Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family." "" "polyglucosan body myopathy 1 with or without immunodeficiency" "A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported." "" + "obsolete neuromuscular disease with dilated cardiomyopathy" "" "true" "hypotrichosis 13" "Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene." "" "severe combined immunodeficiency due to CTPS1 deficiency" "Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens." "" "developmental and epileptic encephalopathy, 25" "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene." "" @@ -17027,8 +16959,8 @@ "glucocorticoid resistance" "" "vesicoureteral reflux 8" "Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene." "" "severe combined immunodeficiency due to DNA-PKcs deficiency" "Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." "" - "obsolete congenital deficiency in alpha-fetoprotein" "Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." "" "true" - "obsolete hereditary persistence of alpha-fetoprotein" "Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" "" "true" + "obsolete congenital deficiency in alpha-fetoprotein" "OBSOLETE. Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." "" "true" + "obsolete hereditary persistence of alpha-fetoprotein" "OBSOLETE. Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" "" "true" "nanophthalmos 4" "Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene." "" "cone-rod dystrophy 20" "Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene." "" "autosomal recessive nonsyndromic hearing loss 102" "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene." "" @@ -17227,7 +17159,7 @@ "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3" "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene." "" "congenital stationary night blindness 1G" "A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21." "" "trichothiodystrophy 2, photosensitive" "" - "Skint1-like pseudogene" "" + "Skint1-like pseudogene" "True" "intellectual disability, autosomal dominant 38" "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene." "" "retinitis pigmentosa 71" "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene." "" "trichothiodystrophy 3, photosensitive" "" @@ -17241,7 +17173,7 @@ "dystonia 27" "Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene." "" "basal ganglia calcification, idiopathic, 6" "Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene." "" "autoimmune interstitial lung disease-arthritis syndrome" "A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease." "" - "secondary interstitial lung disease specific to childhood associated with a systemic disease" "True" + "obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease" "" "true" "NTHL1-related attenuated familial adenomatous polyposis" "" "hypomagnesemia, seizures, and intellectual disability" "" "hypomyelinating leukodystrophy 10" "Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene." "" @@ -17631,7 +17563,7 @@ "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities" "" "dystonia 28, childhood-onset" "Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene." "" "epilepsy, early-onset, vitamin B6-dependent" "" - "generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss" "" + "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss" "" "spastic paraplegia, intellectual disability, nystagmus, and obesity;" "" "amelogenesis imperfecta, type 1J" "" "lymphatic malformation 7" "" @@ -17680,7 +17612,7 @@ "esophageal duplication cyst" "Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported." "" "duplication of the esophagus" "" "tubular duplication of the esophagus" "Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children." "" - "primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies" "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." "True" + "obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies" "OBSOLETE. Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." "" "true" "hereditary angioedema type 1" "Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" "hereditary angioedema with C1Inh deficiency" "Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein." "" "hereditary angioedema type 2" "Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" @@ -17689,19 +17621,18 @@ "acquired angioedema type 1" "Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" "renin-angiotensin-aldosterone system-blocker-induced angioedema" "Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." "" "obsolete Waterhouse-Friderichsen syndrome" "" "true" - "frontotemporal neurodegeneration with movement disorder" "True" "mosaic trisomy 3" "Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities." "" "chromosome 3 disorder" "Chromosomal disorder in which chromosome 3 is affected." "" "neurogenic thoracic outlet syndrome" "Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS." "" "appendix neuroendocrine neoplasm" "A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." "" "neuroendocrine tumor of rectum, well differentiated, low or intermediate grade" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum." "" "neuroendocrine tumor of the anal canal" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal." "" - "neuroendocrine tumor with other location" "True" "middle ear neuroendocrine tumor" "A neuroendocrine neoplasm that involves the middle ear." "" "gallbladder neuroendocrine tumor, grade 1/2" "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder." "" - "obsolete rare parathyroid tumor" "Any of the forms of tumor of parathyroid gland that have a rare incidence." "True" "true" + "obsolete rare parathyroid tumor" "OBSOLETE. Any of the forms of tumor of parathyroid gland that have a rare incidence." "True" "true" "obsolete gastroenteropancreatic neuroendocrine neoplasm" "" "true" "obsolete thymic tumor" "" "true" + "obsolete neuroendocrine tumor with other location" "" "true" "alopecia antibody deficiency" "" "FRAXF syndrome" "FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established." "" "bathing suit ichthyosis" "Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body." "" @@ -17724,36 +17655,36 @@ "pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome" "Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion." "" "pulmonary valve agenesis" "Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424" "" "chronic hepatic porphyria" "Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare)." "" - "genodermatosis with ocular features" "True" + "obsolete genodermatosis with ocular features" "" "true" "obsolete African tick typhus" "" "true" "obsolete rare urogenital disease" "True" "true" - "obsolete rare genetic eye disease" "A form of eye disease that is both rare and inborn." "True" "true" - "obsolete rare non-syndromic intellectual disability" "Rare non-syndromic intellectual disability." "True" "true" + "obsolete rare genetic eye disease" "OBSOLETE. A form of eye disease that is both rare and inborn." "True" "true" + "obsolete rare non-syndromic intellectual disability" "OBSOLETE. Rare non-syndromic intellectual disability." "True" "true" "congenital anomaly of the mitral subvalvular apparatus" "" "non-genetic cardiac rhythm disease" "" - "obsolete rare pancreatic disease" "Any of the forms of pancreas disease that have a rare incidence." "True" "true" + "obsolete rare pancreatic disease" "OBSOLETE. Any of the forms of pancreas disease that have a rare incidence." "True" "true" "obsolete rare vascular liver disease" "True" "true" "obsolete rare parenchymal liver disease" "True" "true" "obsolete rare genetic metabolic liver disease" "True" "true" - "obsolete rare biliary tract disease" "Rare biliary tract disease." "True" "true" - "obsolete rare hepatic and biliary tract tumor" "Any of the forms of hepatobiliary neoplasm that have a rare incidence." "True" "true" + "obsolete rare biliary tract disease" "OBSOLETE. Rare biliary tract disease." "True" "true" + "obsolete rare hepatic and biliary tract tumor" "OBSOLETE. Any of the forms of hepatobiliary neoplasm that have a rare incidence." "True" "true" "obsolete rare pulmonary disease" "" "true" "obsolete bronchopulmonary tumor" "" "true" "obsolete rare acquired eye disease" "True" "true" - "obsolete rare eye tumor" "Any of the forms of eye neoplasm that have a rare incidence." "True" "true" - "obsolete rare diabetes mellitus" "Rare diabetes mellitus." "True" "true" - "obsolete rare inherited dyslipidemia" "Rare lipid metabolism disorder." "True" "true" + "obsolete rare eye tumor" "OBSOLETE. Any of the forms of eye neoplasm that have a rare incidence." "True" "true" + "obsolete rare diabetes mellitus" "OBSOLETE. Rare diabetes mellitus." "True" "true" + "obsolete rare inherited dyslipidemia" "OBSOLETE. Rare lipid metabolism disorder." "True" "true" "obsolete rare adrenal disease" "True" "true" - "obsolete rare thyroid disease" "Rare thyroid disease." "True" "true" + "obsolete rare thyroid disease" "OBSOLETE. Rare thyroid disease." "True" "true" "pituitary deficiency" "" "obsolete rare genetic hypothalamic or pituitary disease" "True" "true" "primary adrenal insufficiency" "A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary." "" - "immunodeficiency due to a genetic complement cascade protein anomaly" "True" + "obsolete immunodeficiency due to a genetic complement cascade protein anomaly" "" "true" "periodic fever syndrome" "Fevers of unknown etiology recurring over months or years." "" "obsolete rare genetic primary immunodeficiency" "True" "true" - "obsolete rare epilepsy" "Rare epilepsy." "True" "true" + "obsolete rare epilepsy" "OBSOLETE. Rare epilepsy." "True" "true" "obsolete ataxia syndrome" "" "true" - "obsolete rare movement disorder" "Rare movement disorder." "True" "true" + "obsolete rare movement disorder" "OBSOLETE. Rare movement disorder." "True" "true" "obsolete other syndrome with lissencephaly as a major feature" "True" "true" "limb-girdle muscular dystrophy" "Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." "" "autosomal monosomy" "True" @@ -17763,7 +17694,7 @@ "obsolete typhus-group rickettsiosis" "" "true" "unexplained periodic fever syndrome" "" "multiple congenital anomalies/dysmorphic syndrome" "" - "obsolete rare syndromic intellectual disability" "Rare syndromic intellectual disability." "True" "true" + "obsolete rare syndromic intellectual disability" "OBSOLETE. Rare syndromic intellectual disability." "True" "true" "acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent" "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain)." "" "therapy related acute myeloid leukemia and myelodysplastic syndrome" "An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)" "" "acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor" "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement." "" @@ -17772,18 +17703,18 @@ "chronic diarrhea due to glucoamylase deficiency" "This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency." "" "chronic diarrheal disease" "Chronic form of diarrheal disease." "" "congenital enterocyte heparan sulfate deficiency" "Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life." "" - "obsolete epithelio-exfoliative colitis-deafness syndrome" "This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness." "" "true" + "obsolete epithelio-exfoliative colitis-deafness syndrome" "OBSOLETE. This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness." "" "true" "obsolete autoimmune enteropathy type 2" "" "true" "autoimmune enteropathy type 3" "" "autoimmune pancreatitis" "Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels." "" "IgG4-related disease" "A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased." "" "undetermined colitis" "Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen." "" - "congenital intestinal disease due to an enzymatic defect" "True" + "obsolete congenital intestinal disease due to an enzymatic defect" "" "true" "short bowel syndrome" "Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility." "" "obsolete rare disease involving intestinal motility" "True" "true" - "obsolete rare tumor of intestine" "Rare intestinal neoplasm." "True" "true" - "obsolete rare inflammatory bowel disease" "Rare inflammatory bowel disease." "True" "true" - "obsolete adenocarcinoma of small instestine" "An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." "" "true" + "obsolete rare tumor of intestine" "OBSOLETE. Rare intestinal neoplasm." "True" "true" + "obsolete rare inflammatory bowel disease" "OBSOLETE. Rare inflammatory bowel disease." "True" "true" + "obsolete adenocarcinoma of small instestine" "OBSOLETE. An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma." "" "true" "obsolete leiomyosarcoma of small intestine" "" "true" "myopathic intestinal pseudoobstruction" "" "obsolete unclassified intestinal pseudoobstruction" "" "true" @@ -17805,8 +17736,8 @@ "visceral malformation of the liver, biliary tract, pancreas or spleen" "" "diaphragmatic or abdominal wall malformation" "" "non-syndromic central nervous system malformation" "A central nervous system malformation that is not part of a larger syndrome." "" - "obsolete rare anemia" "Rare anemia." "True" "true" - "obsolete rare intoxication" "Any of the forms of poisoning that have a rare incidence." "True" "true" + "obsolete rare anemia" "OBSOLETE. Rare anemia." "True" "true" + "obsolete rare intoxication" "OBSOLETE. Any of the forms of poisoning that have a rare incidence." "True" "true" "obsolete syndrome with limb malformations as a major feature" "True" "true" "pentasomy X" "Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." "" "polysomy of X chromosome" "True" @@ -17825,8 +17756,8 @@ "arthrogryposis-like syndrome" "Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested." "" "obsolete aspergillosis" "" "true" "hereditary cerebellar ataxia" "Cerebellar ataxia that is transmitted from parent to child." "" - "ataxia with dementia" "True" - "obsolete rare intestinal disease" "Rare intestinal disease." "True" "true" + "obsolete ataxia with dementia" "" "true" + "obsolete rare intestinal disease" "OBSOLETE. Rare intestinal disease." "True" "true" "anorectal malformation" "" "opsoclonus-myoclonus syndrome" "Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders." "" "ataxia-photosensitivity-short stature syndrome" "Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983." "" @@ -17875,7 +17806,7 @@ "amyloidosis" "A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands." "" "nodular cutaneous amyloidosis" "Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome." "" "macular amyloidosis" "Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis." "" - "obsolete rare endometriosis" "Rare endometriosis." "True" "true" + "obsolete rare endometriosis" "OBSOLETE. Rare endometriosis." "True" "true" "Lemierre syndrome" "Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis." "" "Madras motor neuron disease" "Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss." "" "laminopathy type Decaudain-Vigouroux" "Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness." "" @@ -17895,9 +17826,9 @@ "cataract-intellectual disability-anal atresia-urinary defects syndrome" "Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies." "" "cataract-deafness-hypogonadism syndrome" "Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995." "" "night blindness-skeletal anomalies-dysmorphism syndrome" "This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia)." "" - "obsolete rare bone development disorder" "Any of the forms of bone development disease that have a rare incidence." "True" "true" + "obsolete rare bone development disorder" "OBSOLETE. Any of the forms of bone development disease that have a rare incidence." "True" "true" "overgrowth/obesity syndrome" "" - "malformation syndrome with skin/mucosae involvement" "True" + "obsolete malformation syndrome with skin/mucosae involvement" "" "true" "obsolete rare developmental defect with connective tissue involvement" "True" "true" "adrenomyeloneuropathy" "An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN." "" "drug rash with eosinophilia and systemic symptoms" "DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6." "" @@ -17970,7 +17901,7 @@ "cleft lip with or without cleft palate" "" "orofaciodigital syndrome type 12" "Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated." "" "orofaciodigital syndrome type 13" "Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated." "" - "obsolete anaplastic thyroid carcinoma" "Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans." "" "true" + "obsolete anaplastic thyroid carcinoma" "OBSOLETE. Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans." "" "true" "lethal chondrodysplasia, Moerman type" "" "lethal recessive chondrodysplasia" "Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988." "" "chondrodysplasia" "" @@ -18015,7 +17946,7 @@ "intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome" "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive." "" "Epstein-Barr virus-associated carcinoma" "" "malignant tumor of nasopharynx" "A cancer that involves the nasopharynx." "" - "obsolete adrenocortical carcinoma" "A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." "" "true" + "obsolete adrenocortical carcinoma" "OBSOLETE. A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival." "" "true" "thin ribs-tubular bones-dysmorphism syndrome" "" "craniodigital syndrome-intellectual disability syndrome" "Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit." "" "craniofrontonasal dysplasia-Poland anomaly syndrome" "Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far." "" @@ -18036,14 +17967,16 @@ "primary hereditary glaucoma" "" "lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy" "" "isolated dystonia" "A dystonia (disease) that is not part of a larger syndrome." "" - "otomandibular dysplasia associated with monogenic syndromes" "True" + "obsolete otomandibular dysplasia associated with monogenic syndromes" "" "true" "obsolete pinnae and external auditory canal anomaly" "" "true" - "obsolete rare genetic hepatic disease" "Rare genetic liver disease." "True" "true" + "obsolete rare genetic hepatic disease" "OBSOLETE. Rare genetic liver disease." "True" "true" "obsolete rare genetic urogenital disease" "True" "true" - "obsolete rare genetic endocrine disease" "A form of endocrine system disease that is both rare and inborn." "True" "true" + "obsolete rare genetic endocrine disease" "OBSOLETE. A form of endocrine system disease that is both rare and inborn." "True" "true" "symbrachydactyly of hands and feet" "Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails." "" "non-syndromic brachydactyly" "" - "obsolete rare genetic syndromic intellectual disability" "Rare genetic syndromic intellectual disability." "True" "true" + "obsolete rare genetic syndromic intellectual disability" "OBSOLETE. Rare genetic syndromic intellectual disability." "True" "true" + "obsolete miscellaneous movement disorder due to neurodegenerative disease" "" "true" + "obsolete miscellaneous movement disorder due to genetic neurodegenerative disease" "" "true" "congenital or early infantile CACH syndrome" "" "late infantile CACH syndrome" "" "juvenile or adult CACH syndrome" "" @@ -18073,7 +18006,6 @@ "macrophage activation syndrome" "A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms." "" "non-distal monosomy 10q" "Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported." "" "obsolete rare genetic hematologic disease" "True" "true" - "epidermolysis bullosa simplex" "Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." "" "acral dystrophic epidermolysis bullosa" "Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet." "" "dystrophic epidermolysis bullosa, nails only" "Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails." "" "typical urticaria pigmentosa" "" @@ -18098,17 +18030,17 @@ "isolated congenital auditory ossicle malformation" "Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance." "" "middle ear anomaly" "" "deletion 5q35" "Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment." "" - "cerebral malformation due to abnormal neuronal migration" "True" + "obsolete cerebral malformation due to abnormal neuronal migration" "" "true" "subacute cutaneous lupus erythematosus" "Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced." "" "chronic cutaneous lupus erythematosus" "Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis." "" - "obsolete rare bacterial infectious disease" "Rare bacterial infectious disease." "True" "true" - "obsolete rare viral disease" "Rare viral disease." "True" "true" - "obsolete rare parasitic disease" "Any of the forms of parasitic infection that have a rare incidence." "True" "true" - "obsolete rare mycosis" "Rare fungal infectious disease." "True" "true" + "obsolete rare bacterial infectious disease" "OBSOLETE. Rare bacterial infectious disease." "True" "true" + "obsolete rare viral disease" "OBSOLETE. Rare viral disease." "True" "true" + "obsolete rare parasitic disease" "OBSOLETE. Any of the forms of parasitic infection that have a rare incidence." "True" "true" + "obsolete rare mycosis" "OBSOLETE. Rare fungal infectious disease." "True" "true" "Hb Bart's hydrops fetalis" "Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." "" "distal monosomy 7q36" "Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported." "" - "bile acid synthesis defect with cholestasis and malabsorption" "True" - "obsolete rare disorder related with pregnancy, childbirth and puerperium" "Any of the forms of pregnancy disorder that have a rare incidence." "True" "true" + "obsolete bile acid synthesis defect with cholestasis and malabsorption" "" "true" + "obsolete rare disorder related with pregnancy, childbirth and puerperium" "OBSOLETE. Any of the forms of pregnancy disorder that have a rare incidence." "True" "true" "2p21 microdeletion syndrome" "The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia." "" "febrile infection-related epilepsy syndrome" "Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness." "" "cryptogenic late-onset epileptic spasms" "Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity." "" @@ -18130,7 +18062,6 @@ "obsolete rare odontal or periodontal disorder" "True" "true" "distal monosomy 9p" "Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma." "" "Xp22.3 microdeletion syndrome" "Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated." "" - "male infertility with spermatogenesis disorder" "True" "chromosome Y structural anomaly" "True" "chromosome Y disorder" "Chromosomal disorder in which chromosome Y is affected." "" "acute myeloid leukemia and myelodysplastic syndromes related to radiation" "Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure." "" @@ -18169,10 +18100,9 @@ "thinking seizures" "Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed." "" "startle epilepsy" "Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability." "" "micturation-induced seizures" "Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases." "" - "obsolete rare genetic epilepsy" "A form of epilepsy that is both rare and inborn." "True" "true" - "idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes" "True" - "metabolic disease with epilepsy" "True" - "cerebral diseases of vascular origin with epilepsy" "True" + "obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes" "" "true" + "obsolete metabolic disease with epilepsy" "" "true" + "obsolete cerebral diseases of vascular origin with epilepsy" "" "true" "dextrocardia" "A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects." "" "obsolete hemorrhagic disorder due to an acquired coagulation factor defect" "True" "true" "diencephalic syndrome" "Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors." "" @@ -18185,12 +18115,12 @@ "obsolete diphtheria" "" "true" "diprosopus" "Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases." "" "lethal multiple congenital anomalies/dysmorphic syndrome" "" - "obsolete rare cardiac tumor" "Any of the forms of heart neoplasm that have a rare incidence." "True" "true" + "obsolete rare cardiac tumor" "OBSOLETE. Any of the forms of heart neoplasm that have a rare incidence." "True" "true" "distomatosis" "Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines." "" "obsolete hyperandrogenism due to cortisone reductase deficiency" "" "true" "cardiac diverticulum" "Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse." "" "dysplasia of head of femur, Meyer type" "Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis." "" - "obsolete rare pervasive developmental disorder" "Rare pervasive developmental disorder." "True" "true" + "obsolete rare pervasive developmental disorder" "OBSOLETE. Rare pervasive developmental disorder." "True" "true" "childhood disintegrative disorder" "Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia." "" "obsolete malignant peritoneal mesothelioma" "" "true" "obsolete peritoneal cystic mesothelioma" "" "true" @@ -18208,9 +18138,9 @@ "T-B+ severe combined immunodeficiency due to CD45 deficiency" "" "mosaic trisomy 1" "" "obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies" "" "true" - "immunodeficiency syndrome with autoimmunity" "True" - "immune dysregulation disease with immunodeficiency" "True" - "specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells" "True" + "obsolete immunodeficiency syndrome with autoimmunity" "" "true" + "obsolete immune dysregulation disease with immunodeficiency" "" "true" + "obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells" "" "true" "non-distal trisomy 10q" "Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism." "" "idiopathic central precocious puberty" "" "secondary central precocious puberty" "" @@ -18280,6 +18210,8 @@ "45,X/46,XY mixed gonadal dysgenesis" "45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." "" "Y chromosome number anomaly" "True" "monosomy" "A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number." "" + "obsolete syndrome with combined immunodeficiency" "" "true" + "obsolete malformation syndrome with hamartosis" "" "true" "facial dysmorphism-shawl scrotum-joint laxity syndrome" "Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit." "" "dysmorphism-cleft palate-loose skin syndrome" "Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss." "" "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1" "" @@ -18289,8 +18221,7 @@ "Prader-Willi syndrome due to imprinting mutation" "" "symptomatic form of hemophilia A in female carriers" "A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII." "" "symptomatic form of hemophilia B in female carriers" "A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX." "" - "non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations" "True" - "non-acquired combined pituitary hormone deficiency" "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis." "" + "obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations" "" "true" "transient congenital hypothyroidism" "A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone." "" "moderate multiminicore disease with hand involvement" "" "antenatal multiminicore disease with arthrogryposis multiplex congenita" "" @@ -18318,7 +18249,7 @@ "primary cutaneous follicle center lymphoma" "A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin." "" "obsolete primary cutaneous diffuse large B-cell lymphoma, leg type" "" "true" "primary cutaneous B-cell lymphoma" "" - "obesity due to congenital leptin resistance" "True" + "obsolete obesity due to congenital leptin resistance" "" "true" "autosomal dominant spondylocostal dysostosis" "Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." "" "uterovaginal malformation" "" "non-syndromic uterovaginal malformation" "A uterovaginal malformation that is not part of a larger syndrome." "" @@ -18334,7 +18265,6 @@ "Unicervical bicornuate uterus" "" "cordiform uterus" "" "septate uterus" "" - "female infertility due to an implantation defect" "True" "complete septate uterus" "Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent." "" "partial septate uterus" "Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated." "" "uterine hypoplasia" "" @@ -18353,8 +18283,8 @@ "obsolete embryonal carcinoma" "" "true" "obsolete benign tumor of fallopian tubes" "" "true" "obsolete malignant tumor of fallopian tubes" "" "true" - "obsolete rare breast tumor" "Any of the forms of breast neoplasm that have a rare incidence." "True" "true" - "obsolete rare benign breast tumor" "Any of the forms of breast benign neoplasm that have a rare incidence." "True" "true" + "obsolete rare breast tumor" "OBSOLETE. Any of the forms of breast neoplasm that have a rare incidence." "True" "true" + "obsolete rare benign breast tumor" "OBSOLETE. Any of the forms of breast benign neoplasm that have a rare incidence." "True" "true" "benign breast phyllodes tumor" "A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors." "" "giant adenofibroma of the breast" "Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement." "" "Paget disease of the nipple" "Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses." "" @@ -18362,71 +18292,72 @@ "obsolete rare non-malformative uterine adnexal disease" "True" "true" "obsolete rare vulvovaginal tumor" "True" "true" "obsolete rare disease with autism" "" "true" - "obsolete gastroesophageal tumor" "A tumor involving the gastroesophageal tissue." "" "true" - "obsolete rare tumor of pancreas" "Any of the forms of pancreatic neoplasm that have a rare incidence." "True" "true" + "obsolete gastroesophageal tumor" "OBSOLETE. A tumor involving the gastroesophageal tissue." "" "true" + "obsolete rare tumor of pancreas" "OBSOLETE. Any of the forms of pancreatic neoplasm that have a rare incidence." "True" "true" "hidrotic ectodermal dysplasia, Halal type" "Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." "" - "obsolete rare insulin-resistance syndrome" "A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome." "True" "true" - "obsolete rare diabetes mellitus type 1" "Any of the forms of type 1 diabetes mellitus that have a rare incidence." "True" "true" + "obsolete rare insulin-resistance syndrome" "OBSOLETE. A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome." "True" "true" + "obsolete rare diabetes mellitus type 1" "OBSOLETE. Any of the forms of type 1 diabetes mellitus that have a rare incidence." "True" "true" "obsolete rare diabetes mellitus type 2" "True" "true" "obsolete other rare diabetes mellitus" "True" "true" "obsolete rare hypothalamic or pituitary disease" "True" "true" "obsolete rare disorder with congenital hypogonadotropic hypogonadism" "True" "true" "obsolete hypogonadotropic hypogonadism associated with other endocrinopathies" "" "true" - "obsolete rare hypothyroidism" "Any of the forms of hypothyroidism that have a rare incidence." "True" "true" - "obsolete rare hyperthyroidism" "Any of the forms of hyperthyroidism that have a rare incidence." "True" "true" - "obsolete rare hypoparathyroidism" "Rare hypoparathyroidism." "True" "true" - "obsolete rare hyperparathyroidism" "Rare hyperparathyroidism." "True" "true" + "obsolete rare hypothyroidism" "OBSOLETE. Any of the forms of hypothyroidism that have a rare incidence." "True" "true" + "obsolete rare hyperthyroidism" "OBSOLETE. Any of the forms of hyperthyroidism that have a rare incidence." "True" "true" + "obsolete rare hypoparathyroidism" "OBSOLETE. Rare hypoparathyroidism." "True" "true" + "obsolete rare hyperparathyroidism" "OBSOLETE. Rare hyperparathyroidism." "True" "true" "obsolete rare genetic adrenal disease" "True" "true" - "obsolete rare primary hyperaldosteronism" "Any of the forms of primary aldosteronism that have a rare incidence." "True" "true" + "obsolete rare primary hyperaldosteronism" "OBSOLETE. Any of the forms of primary aldosteronism that have a rare incidence." "True" "true" "hypoaldosteronism disease" "" "obsolete rare inherited hyperlipidemia" "True" "true" "obsolete rare hypolipidemia" "True" "true" "obsolete rare disorder with hypergonadotropic hypogonadism" "True" "true" "epimetaphyseal skeletal dysplasia" "" "chromomycosis" "Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa." "" - "obsolete rare acquired hemolytic anemia" "Hemolytic anemia, the cause of which is not present at birth." "True" "true" + "obsolete rare acquired hemolytic anemia" "OBSOLETE. Hemolytic anemia, the cause of which is not present at birth." "True" "true" "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" "An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD." "" "obsolete rare thrombotic disease of hematologic origin" "True" "true" "cerebellar malformation" "" "obsolete rare neuroinflammatory or neuroimmunological disease" "True" "true" "obsolete malignant glioma" "" "true" - "obsolete rare neurodegenerative disease" "Rare neurodegenerative disease." "True" "true" - "syndromic neurometabolic disease with non-X-linked intellectual disability" "True" - "channelopathy with epilepsy" "True" + "obsolete rare neurodegenerative disease" "OBSOLETE. Rare neurodegenerative disease." "True" "true" + "obsolete syndromic neurometabolic disease with non-X-linked intellectual disability" "" "true" + "obsolete channelopathy with epilepsy" "" "true" "acquired peripheral neuropathy" "An instance of peripheral neuropathy that is acquired during the lifetime of the individual." "" "idiopathic eosinophilic pneumonia" "" - "secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease" "True" + "obsolete secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease" "" "true" "respiratory or thoracic malformation" "" "obsolete rare urogenital tumor" "True" "true" "non-syndromic urogenital tract malformation of male and female" "" - "obsolete rare tumor of endocrine glands" "A rare tumor that involves the endocrine gland." "True" "true" + "obsolete rare tumor of endocrine glands" "OBSOLETE. A rare tumor that involves the endocrine gland." "True" "true" "obsolete rare inflammatory eye disease" "True" "true" "obsolete systemic disease" "" "true" - "obsolete systemic autoimmune disease" "An autoimmune form of systemic disease." "" "true" + "obsolete systemic autoimmune disease" "OBSOLETE. An autoimmune form of systemic disease." "" "true" "epiphyseal dysplasia-hearing loss-dysmorphism syndrome" "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992." "" "eosinophilic granulomatosis with polyangiitis" "Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia." "" - "systemic inflammatory disease associated with an acquired peripheral neuropathy" "True" - "non-familial rare disease with dilated cardiomyopathy" "True" + "obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy" "" "true" + "obsolete non-familial rare disease with dilated cardiomyopathy" "" "true" "axial mesodermal dysplasia spectrum" "Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula." "" "obsolete rare genetic epidermal disorder" "True" "true" "obsolete rare genetic skin vascular disorder" "True" "true" "obsolete rare genetic subcutaneous tissue disorder" "True" "true" "obsolete genetic neurodegenerative disease" "" "true" "obsolete rare genetic headache disorder" "True" "true" - "obsolete rare hereditary ataxia" "Rare hereditary ataxia." "" "true" - "obsolete rare genetic movement disorder" "Rare genetic movement disorder." "True" "true" - "obsolete rare genetic bone disease" "Rare genetic bone disease." "True" "true" + "obsolete rare genetic epilepsy" "OBSOLETE. A form of epilepsy that is both rare and inborn." "True" "true" + "obsolete rare hereditary ataxia" "OBSOLETE. Rare hereditary ataxia." "" "true" + "obsolete rare genetic movement disorder" "OBSOLETE. Rare genetic movement disorder." "True" "true" + "obsolete rare genetic bone disease" "OBSOLETE. Rare genetic bone disease." "True" "true" "obsolete obsolete rare genetic palpebral, lacrimal system and conjunctival disease" "" "true" "obsolete rare genetic refraction anomaly" "True" "true" "monogenic diabetes" "Rare genetic diabetes mellitus." "" - "obsolete rare genetic thyroid disease" "Rare genetic thyroid disease." "True" "true" + "obsolete rare genetic thyroid disease" "OBSOLETE. Rare genetic thyroid disease." "True" "true" "obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder" "True" "true" - "obsolete rare constitutional anemia" "A form of anemia (disease) that is both rare and inborn." "True" "true" + "obsolete rare constitutional anemia" "OBSOLETE. A form of anemia (disease) that is both rare and inborn." "True" "true" "obsolete rare genetic coagulation disorder" "" "true" "obsolete rare genetic gynecological and obstetrical diseases" "True" "true" "obsolete inherited gynecological tumor" "" "true" - "obsolete rare genetic intellectual disability" "Rare genetic intellectual disability." "True" "true" - "obsolete rare genetic immune disease" "Rare genetic immune system disease." "True" "true" + "obsolete rare genetic intellectual disability" "OBSOLETE. Rare genetic intellectual disability." "True" "true" + "obsolete rare genetic immune disease" "OBSOLETE. Rare genetic immune system disease." "True" "true" "bone dysplasia, Azouz type" "Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet." "" "scimitar syndrome" "Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt." "" "multicystic dysplastic kidney" "Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional." "" @@ -18466,8 +18397,9 @@ "femoral agenesis/hypoplasia" "Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." "" "non-syndromic limb reduction defect" "" "obsolete rare disorder with ptosis" "True" "true" + "obsolete syndrome with a symptomatic strabismus" "" "true" "Nelson syndrome" "A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation." "" - "Ledderhose disease" "Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet. It is generally seen in middle-aged and elderly people, and affects men approximately 10 times more often than it affects women. It typically affects both feet and progresses slowly, but not indefinitely. The nodules are typically painless at first, but may cause pain when walking as they grow. Often, people with Ledderhose disease also have other conditions associated with the formation of excess fibrous connective tissue such as Dupuytren contracture, knuckle pads, or Peyronie disease. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have also been reported in association with this condition. The exact cause of Ledderhose disease is not known, but heredity is thought to play a role in many cases. Treatment, if needed, involves conservative management, steroid injections, radiotherapy, and surgery (plantar facia removal (fasciectomy) and surgical removal of of the fibrous tissue. The condition has a good prognosis, although slow progression is not uncommon. Fasciectomy has been shown to reduce the rate of recurrences." "" + "Ledderhose disease" "Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet. It is generally seen in middle-aged and elderly people, and affects men approximately 10 times more often than it affects women. It typically affects both feet and progresses slowly, but not indefinitely. The nodules are typically painless at first, but may cause pain when walking as they grow. Often, people with Ledderhose disease also have other conditions associated with the formation of excess fibrous connective tissue such as Dupuytren contracture, knuckle pads, or Peyronie disease. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have also been reported in association with this condition. The exact cause of Ledderhose disease is not known, but heredity is thought to play a role in many cases. Treatment, if needed, involves conservative management, steroid injections, radiotherapy, and surgery (plantar facia removal (fasciectomy) and surgical removal of of the fibrous tissue. The condition has a good prognosis, although slow progression is not uncommon. Fasciectomy has been shown to reduce the rate of recurrences." "True" "calcified aponeurotic fibroma" "A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells." "" "infantile digital fibromatosis" "" "harlequin syndrome" "Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." "" @@ -18476,7 +18408,7 @@ "tetragametic chimerism" "Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins." "" "isolated autosomal dominant hypomagnesemia, Glaudemans type" "Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." "" "congenital myopathy, Paradas type" "Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development." "" - "thiamine-responsive encephalopathy" "Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy characterized by seizures responsive to high doses of thiamine." "True" + "obsolete thiamine-responsive encephalopathy" "" "true" "cleft lip-retinopathy syndrome" "Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." "" "atypical autism" "Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" "" "isolated cerebellar vermis hypoplasia" "Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms." "" @@ -18519,7 +18451,7 @@ "subacute inflammatory demyelinating polyneuropathy" "A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP)." "" "isolated asymptomatic elevation of creatine phosphokinase" "Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle." "" "caveolinopathy" "A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals" "" - "infectious disease with peripheral neuropathy" "An infectious process affecting the peripheral nerves." "True" + "obsolete infectious disease with peripheral neuropathy" "OBSOLETE. An infectious process affecting the peripheral nerves." "" "true" "obsolete non-dystrophic myopathy with collagen 6 anomaly" "" "true" "obsolete mitochondrial myopathy" "" "true" "obsolete drug and/or toxic myopathy" "" "true" @@ -18532,8 +18464,8 @@ "obsolete rare hereditary disease with peripheral neuropathy" "True" "true" "obsolete rare hereditary systemic disease with peripheral neuropathy" "True" "true" "obsolete rare hereditary neurologic disease with peripheral neuropathy" "True" "true" - "cerebellar ataxia with peripheral neuropathy" "True" - "acute and subacute inflammatory demyelinating polyneuropathy" "True" + "obsolete cerebellar ataxia with peripheral neuropathy" "" "true" + "obsolete acute and subacute inflammatory demyelinating polyneuropathy" "" "true" "obsolete malignant lymphoma with peripheral neuropathy" "" "true" "qualitative or quantitative protein defects in neuromuscular diseases" "" "sarcoglycanopathy" "Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency." "" @@ -18555,10 +18487,10 @@ "paraneoplastic sensory ganglionopathy" "" "cutis laxa" "Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." "" "axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy" "" - "peripheral neuropathy associated with monoclonal gammopathy" "True" + "obsolete peripheral neuropathy associated with monoclonal gammopathy" "" "true" "acquired amyloid peripheral neuropathy" "" - "hematological disease associated with an acquired peripheral neuropathy" "True" - "solid tumor associated with an acquired peripheral neuropathy" "True" + "obsolete hematological disease associated with an acquired peripheral neuropathy" "" "true" + "obsolete solid tumor associated with an acquired peripheral neuropathy" "" "true" "qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase" "" "qualitative or quantitative defects of protein glycosyltransferase-like" "" "qualitative or quantitative defects of myofibrillar proteins" "" @@ -18584,11 +18516,11 @@ "temporomandibular joint anomaly" "" "spindle cell hemangioma" "Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis." "" "specific learning disability" "Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)" "" - "obsolete rare vascular tumor" "Any of the forms of vascular neoplasm that have a rare incidence." "True" "true" + "obsolete rare vascular tumor" "OBSOLETE. Any of the forms of vascular neoplasm that have a rare incidence." "True" "true" "obsolete rare venous malformation" "True" "true" "obsolete rare lymphatic system malformation" "True" "true" - "obsolete rare arteriovenous malformation" "Rare arteriovenous malformation." "True" "true" - "complex vascular malformation with associated anomalies" "True" + "obsolete rare arteriovenous malformation" "OBSOLETE. Rare arteriovenous malformation." "True" "true" + "obsolete complex vascular malformation with associated anomalies" "" "true" "kaposiform hemangioendothelioma" "Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions." "" "kaposiform lymphangiomatosis" "A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells." "" "diffuse neonatal hemangiomatosis" "Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges." "" @@ -18600,9 +18532,9 @@ "" "true" "malignant non-epithelial tumor of ovary" "" "hereditary site-specific ovarian cancer syndrome" "Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients." "" - "obsolete rare adenocarcinoma of the breast" "Any of the forms of breast adenocarcinoma that have a rare incidence." "True" "true" + "obsolete rare adenocarcinoma of the breast" "OBSOLETE. Any of the forms of breast adenocarcinoma that have a rare incidence." "True" "true" "salivary gland type cancer of the breast" "Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma." "" - "obsolete rare uterine cancer" "Rare uterine cancer." "True" "true" + "obsolete rare uterine cancer" "OBSOLETE. Rare uterine cancer." "True" "true" "obsolete rare variants of adenocarcinoma of the corpus uteri" "" "true" "obsolete adenosarcoma of the corpus uteri" "" "true" "uterine corpus carcinofibroma" "An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component." "" @@ -18619,10 +18551,10 @@ "low-grade neuroendocrine tumor of the corpus uteri" "Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop." "" "adenoid cystic carcinoma of the corpus uteri" "A adenoid cystic carcinoma that involves the body of uterus." "" "transitional cell carcinoma of the corpus uteri" "A transitional cell carcinoma that involves the body of uterus." "" - "obsolete rare cancer of cervix uteri" "Rare cervical cancer." "True" "true" + "obsolete rare cancer of cervix uteri" "OBSOLETE. Rare cervical cancer." "True" "true" "high-grade neuroendocrine carcinoma of the cervix uteri" "High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent." "" - "obsolete carcinosarcoma of the cervix uteri" "Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported." "" "true" - "obsolete adenosarcoma of the cervix uteri" "Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps." "" "true" + "obsolete carcinosarcoma of the cervix uteri" "OBSOLETE. Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported." "" "true" + "obsolete adenosarcoma of the cervix uteri" "OBSOLETE. Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps." "" "true" "46,XX ovotesticular disorder of sex development" "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." "" "rhabdomyosarcoma of the cervix uteri" "A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix." "" "leiomyosarcoma of the cervix uteri" "Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver." "" @@ -18650,7 +18582,7 @@ "5-fluorouracil poisoning" "5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men." "" "poisoning" "A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent." "" "obsolete renal cell carcinoma" "" "true" - "obsolete rare carcinoma of pancreas" "Rare pancreatic carcinoma." "True" "true" + "obsolete rare carcinoma of pancreas" "OBSOLETE. Rare pancreatic carcinoma." "True" "true" "mucopolysaccharidosis type 2, severe form" "Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." "" "mucopolysaccharidosis type 2, attenuated form" "Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline." "" "limbic encephalitis with NMDA receptor antibodies" "Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens." "" @@ -18661,19 +18593,22 @@ "interstitial lung disease specific to infancy" "" "neuroendocrine cell hyperplasia of infancy" "Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure." "" "chronic respiratory distress with surfactant metabolism deficiency" "" - "primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder" "True" "obsolete hypertrophic cardiomyopathy" "" "true" - "glycogen storage disease with hypertrophic cardiomyopathy" "True" + "obsolete glycogen storage disease with hypertrophic cardiomyopathy" "" "true" + "obsolete mitochondrial disease with hypertrophic cardiomyopathy" "" "true" + "obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy" "" "true" "obsolete familial syndrome associated with hypertrophic cardiomyopathy" "" "true" "infantile systemic hyalinosis" "Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands." "" "hypertrophic cardiomyopathy due to intensive athletic training" "" - "fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy" "True" + "obsolete mitochondrial disease with dilated cardiomyopathy" "" "true" + "obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy" "" "true" "non-familial dilated cardiomyopathy" "" "obsolete restrictive cardiomyopathy" "" "true" + "obsolete lysosomal disease with restrictive cardiomyopathy" "" "true" "obsolete unclassified cardiomyopathy" "" "true" "hydranencephaly" "A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor." "" "hydrocephalus-obesity-hypogonadism syndrome" "This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature." "" - "obsolete rare cardiac rhythm disease" "A rare form of cardiac rhythm disease." "True" "true" + "obsolete rare cardiac rhythm disease" "OBSOLETE. A rare form of cardiac rhythm disease." "True" "true" "hydrocephalus-blue sclerae-nephropathy syndrome" "Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978." "" "anti-HLA hyperimmunization" "Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion." "" "palmoplantar keratoderma-spastic paralysis syndrome" "" @@ -18683,13 +18618,12 @@ "limited systemic sclerosis" "Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin." "" "marcothrombocytopenia with mitral valve insufficiency" "Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency." "" "classic or attenuated familial adenomatous polyposis" "An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP." "" - "obsolete rare hereditary hemochromatosis" "Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease." "True" "true" + "obsolete rare hereditary hemochromatosis" "OBSOLETE. Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease." "True" "true" "tumor of parathyroid gland" "A neoplasm (disease) that involves the parathyroid gland." "" "maternal phenylketonuria" "Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations." "" "polymyositis" "Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes." "" "Rothmund-Thomson syndrome type 1" "Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer." "" "Rothmund-Thomson syndrome type 2" "Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." "" - "disease with potential neoplastic degeneration associated with ocular features" "True" "Marchiafava-Bignami disease" "Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism." "" "combined hyperactive dysfunction syndrome of the cranial nerves" "" "glossopharyngeal neuralgia" "Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases." "" @@ -18705,18 +18639,19 @@ "hypogonadotropic hypogonadism-retinitis pigmentosa syndrome" "This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents." "" "obsolete bone sarcoma" "" "true" "obsolete lymphoma" "" "true" + "obsolete metabolic disease with cataract" "" "true" "cerebellar hypoplasia-tapetoretinal degeneration syndrome" "Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." "" "hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome" "This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism." "" "sporadic infantile bilateral striatal necrosis" "Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." "" "foveal hypoplasia-presenile cataract syndrome" "" - "lysosomal disease with epilepsy" "True" - "peroxisomal disease with epilepsy" "True" - "metal transport or utilization disorder with epilepsy" "True" - "energy metabolism disorder with epilepsy" "True" + "obsolete lysosomal disease with epilepsy" "" "true" + "obsolete peroxisomal disease with epilepsy" "" "true" + "obsolete metal transport or utilization disorder with epilepsy" "" "true" + "obsolete energy metabolism disorder with epilepsy" "" "true" "obsolete metabolic neurotransmission anomaly with epilepsy" "" "true" + "obsolete sterol metabolism disorder with epilepsy" "" "true" "obsolete other metabolic disease with epilepsy" "True" "true" "oligomeganephronia" "Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules." "" - "primary congenital hypothyroidism" "Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." "" "hypothyroidism due to deficient transcription factors involved in pituitary development or function" "Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." "" "congenital hypothyroidism due to maternal intake of antithyroid drugs" "" "hypotrichosis-intellectual disability, Lopes type" "Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive." "" @@ -18735,7 +18670,7 @@ "Balo concentric sclerosis" "Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity." "" "autosomal dominant Charcot-Marie-Tooth disease type 2M" "Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." "" "dysmorphism-short stature-deafness-disorder of sex development syndrome" "Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait." "" - "acquired dermis elastic tissue disorder with decreased elastic tissue" "True" + "obsolete acquired dermis elastic tissue disorder with decreased elastic tissue" "" "true" "late-onset focal dermal elastosis" "Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits." "" "linear focal dermal elastosis" "Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis." "" "elastoderma" "Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery." "" @@ -18784,11 +18719,11 @@ "chromosome 11 disorder" "Chromosomal disorder in which chromosome 11 is affected." "" "beta-thalassemia major" "Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions." "" "beta-thalassemia intermedia" "Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion." "" - "beta-thalassemia associated with another hemoglobin anomaly" "Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ]." "True" - "beta-thalassemia and related diseases" "" + "obsolete beta-thalassemia associated with another hemoglobin anomaly" "OBSOLETE. Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ]." "" "true" "delta-beta-thalassemia" "Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." "" "hemoglobin C-beta-thalassemia syndrome" "Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia." "" "hemoglobin E-beta-thalassemia syndrome" "Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia." "" + "obsolete beta-thalassemia with other manifestations" "OBSOLETE. Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder." "" "true" "variant of Guillain-Barre syndrome" "" "functional variant of Guillain-Barre syndrome" "" "pharyngeal-cervical-brachial variant of Guillain-Barre syndrome" "" @@ -18799,13 +18734,13 @@ "congenital erosive and vesicular dermatosis" "" "primary unilateral adrenal hyperplasia" "Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland." "" "ectopic aldosterone-producing tumor" "Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement." "" - "obsolete rare surgically correctable form of primary aldosteronism" "Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia." "True" "true" + "obsolete rare surgically correctable form of primary aldosteronism" "OBSOLETE. Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia." "True" "true" "obsolete rare non surgically correctable form of primary aldosteronism" "True" "true" "microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome" "" "epibulbar lipodermoid-preauricular appendage-polythelia syndrome" "Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." "" "epidermolysis bullosa simplex with anodontia/hypodontia" "" "Kallmann syndrome-heart disease syndrome" "Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome." "" - "obsolete rare genetic vascular disease" "Rare genetic vascular disease." "True" "true" + "obsolete rare genetic vascular disease" "OBSOLETE. Rare genetic vascular disease." "True" "true" "obsolete keratosis follicularis spinulosa decalvans" "" "true" "muscular pseudohypertrophy-hypothyroidism syndrome" "Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism." "" "Kousseff syndrome" "A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11." "" @@ -18852,9 +18787,10 @@ "cerebral cortical dysplasia" "Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay." "" "acute fatty liver of pregnancy" "Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy." "" "hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome" "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterised by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit." "" - "male infertility due to sperm motility disorder" "True" + "obsolete male infertility due to sperm motility disorder" "" "true" "split hand or/and split foot malformation" "" "biliary atresia with splenic malformation syndrome" "Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen." "" + "obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies" "OBSOLETE. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis." "" "true" "congenital pulmonary airway malformation" "An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size." "" "congenital mitral malformation" "" "atrioventricular valve anomaly" "" @@ -18862,7 +18798,6 @@ "obsolete mansonelliasis" "" "true" "systemic mastocytosis" "Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement." "" "infantile mercury poisoning" "Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia." "" - "mercury poisoning" "Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity." "" "obsolete collecting duct carcinoma" "" "true" "sporadic adult-onset ataxia of unknown etiology" "Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported." "" "acquired ataxia" "A type of ataxia that is acquired during the lifetime of the individual." "" @@ -18875,7 +18810,7 @@ "dysraphism-cleft lip/palate-limb reduction defects syndrome" "" "perinatal lethal hypophosphatasia" "A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth." "" "hypophosphatasia" "Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia)." "" - "obsolete prenatal benign hypophosphatasia" "Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease." "" "true" + "obsolete prenatal benign hypophosphatasia" "OBSOLETE. Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease." "" "true" "odontohypophosphatasia" "Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities." "" "inflammatory myopathy with abundant macrophages" "Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI." "" "idiopathic eosinophilic myositis" "" @@ -18890,14 +18825,14 @@ "rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies" "" "juvenile Huntington disease" "Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age." "" "Melhem-Fahl syndrome" "Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." "" - "obsolete rare deficiency anemia" "Any of the forms of deficiency anemia that have a rare incidence." "True" "true" - "inherited deficiency anemia" "" + "obsolete rare deficiency anemia" "OBSOLETE. Any of the forms of deficiency anemia that have a rare incidence." "True" "true" "acquired deficiency anemia" "An instance of deficiency anemia that is acquired during the lifetime of the individual." "" - "hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency" "" + "hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency" "True" "obsolete rare hemorrhagic disorder" "True" "true" + "obsolete hemorrhagic disorder due to a coagulation factors defect" "" "true" "obsolete hemorrhagic disorder due to a platelet anomaly" "" "true" "isolated delta-storage pool disease" "Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery." "" - "obsolete hemorrhagic disorder due to an acquired platelet anomaly" "A hemorrhagic disorder due to a platelet anomaly which develops after birth." "True" "true" + "obsolete hemorrhagic disorder due to an acquired platelet anomaly" "OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which develops after birth." "True" "true" "obsolete thrombotic disorder due to a coagulation factors defect" "" "true" "obsolete thrombotic disorder due to a constitutional coagulation factors defect" "True" "true" "obsolete thrombotic disorder due to a platelet anomaly" "" "true" @@ -18940,7 +18875,7 @@ "localized junctional epidermolysis bullosa, non-Herlitz type" "Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails." "" "distal arthrogryposis type 10" "" "recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome" "Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported." "" - "obsolete rare tumor of neuroepithelial tissue" "Any of the forms of neuroepithelial neoplasm that have a rare incidence." "True" "true" + "obsolete rare tumor of neuroepithelial tissue" "OBSOLETE. Any of the forms of neuroepithelial neoplasm that have a rare incidence." "True" "true" "gliosarcoma" "A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO)." "" "giant cell glioblastoma" "A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)" "" "gliomatosis cerebri" "A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)" "" @@ -18963,7 +18898,7 @@ "oligoastrocytic tumor" "" "oligoastrocytoma" "A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)" "" "anaplastic oligoastrocytoma" "An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity." "" - "glial tumor of neuroepithelial tissue with unknown origin" "True" + "obsolete glial tumor of neuroepithelial tissue with unknown origin" "" "true" "angiocentric glioma" "Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis." "" "astroblastoma" "Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches." "" "neuroepithelial neoplasm" "A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors." "" @@ -18995,13 +18930,13 @@ "microcephaly-cleft palate syndrome" "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983." "" "malignant perineurioma" "A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate." "" "obsolete benign schwannoma" "" "true" - "vestibular schwannoma" "Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness." "True" + "obsolete vestibular schwannoma" "" "true" "malignant triton tumor" "Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation." "" "microcephaly-brain defect-spasticity-hypernatremia syndrome" "Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986." "" "microcephaly-microcornea syndrome, Seemanova type" "Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait." "" "microcornea-corectopia-macular hypoplasia syndrome" "Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family." "" "19p13.12 microdeletion syndrome" "19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism." "" - "obsolete rare lichen planus" "Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis." "True" "true" + "obsolete rare lichen planus" "OBSOLETE. Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis." "True" "true" "obsolete cutaneous lichen planus" "" "true" "obsolete rare mucosal lichen planus" "True" "true" "linear lichen planus" "Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development." "" @@ -19020,9 +18955,11 @@ "maternal 14q32.2 hypermethylation syndrome" "" "partial hydatidiform mole" "Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage." "" "epithelioid trophoblastic tumor" "An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy." "" - "obsolete genetic hyperferritinemia without iron overload" "Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype." "" "true" - "mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies" "True" - "mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA" "True" + "obsolete genetic hyperferritinemia without iron overload" "OBSOLETE. Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype." "" "true" + "obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies" "" "true" + "obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA" "" "true" + "obsolete mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA" "" "true" + "obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism" "" "true" "mitochondrial membrane transport disorder" "" "obsolete exercise intolerance with lactic acidosis" "" "true" "maternally-inherited mitochondrial dystonia" "Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." "" @@ -19158,20 +19095,21 @@ "partial duplication of chromosome X" "" "partial duplication of the short arm of chromosome 1" "" "trisomy 8p" "Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported." "" - "interstitial lung disease specific to childhood" "A interstitial lung disease that occurs during childhood." "" - "primary interstitial lung disease specific to childhood due to alveolar structure disorder" "True" - "primary interstitial lung disease specific to childhood due to alveolar vascular disorder" "True" + "obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder" "" "true" + "obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder" "" "true" "isolated pulmonary capillaritis" "Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative." "" - "secondary interstitial lung disease specific to childhood associated with a systemic vasculitis" "True" - "secondary interstitial lung disease specific to childhood associated with a granulomatous disease" "True" - "interstitial lung disease specific to adulthood" "" + "obsolete secondary interstitial lung disease specific to childhood associated with a systemic vasculitis" "" "true" + "obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease" "" "true" + "obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease" "" "true" + "obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease" "" "true" "Langerhans cell histiocytosis specific to adulthood" "Langerhans cell histiocytosis that occurs during adulthood." "" "interstitial lung disease in childhood and adulthood" "" - "primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder" "True" + "obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder" "" "true" + "obsolete primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder" "" "true" "secondary interstitial lung disease in childhood and adulthood" "" "Langerhans cell histiocytosis in childhood and adulthood" "" - "secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease" "True" - "secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis" "True" + "obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease" "" "true" + "obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis" "" "true" "drug or radiation exposure-related interstitial lung disease" "" "exposure-related interstitial lung disease" "" "osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome" "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance." "" @@ -19239,7 +19177,9 @@ "obsolete bifid nose" "" "true" "congenital communicating hydrocephalus" "" "congenital non-communicating hydrocephalus" "" + "obsolete syndrome with microcephaly as major feature" "" "true" "obsolete other syndrome with a central nervous system malformation as major feature" "True" "true" + "obsolete syndrome with a Dandy-Walker malformation as major feature" "" "true" "obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature" "True" "true" "noma" "Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face." "" "obsolete oculofaciocardiodental syndrome" "" "true" @@ -19251,19 +19191,18 @@ "obsolete hemorrhagic disorder due to a qualitative platelet defect" "True" "true" "idiopathic pulmonary arterial hypertension" "Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH." "" "drug- or toxin-induced pulmonary arterial hypertension" "Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal." "" - "pulmonary arterial hypertension associated with another disease" "Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal." "True" - "pulmonary arterial hypertension associated with connective tissue disease" "Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease." "True" - "pulmonary arterial hypertension associated with congenital heart disease" "Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery." "True" - "pulmonary arterial hypertension associated with HIV infection" "Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection." "True" - "pulmonary arterial hypertension associated with portal hypertension" "Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension." "True" - "pulmonary arterial hypertension associated with schistosomiasis" "Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis." "True" - "pulmonary arterial hypertension associated with chronic hemolytic anemia" "Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia." "True" + "obsolete pulmonary arterial hypertension associated with another disease" "OBSOLETE. Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal." "" "true" + "obsolete pulmonary arterial hypertension associated with connective tissue disease" "OBSOLETE. Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease." "" "true" + "obsolete pulmonary arterial hypertension associated with congenital heart disease" "OBSOLETE. Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery." "" "true" + "obsolete pulmonary arterial hypertension associated with HIV infection" "OBSOLETE. Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection." "" "true" + "obsolete pulmonary arterial hypertension associated with portal hypertension" "OBSOLETE. Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension." "" "true" + "obsolete pulmonary arterial hypertension associated with schistosomiasis" "OBSOLETE. Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis." "" "true" + "obsolete pulmonary arterial hypertension associated with chronic hemolytic anemia" "OBSOLETE. Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia." "" "true" "pulmonary hypertension owing to lung disease and/or hypoxia" "" - "pulmonary hypertension with unclear multifactorial mechanism" "True" + "obsolete pulmonary hypertension with unclear multifactorial mechanism" "" "true" "obsolete syndrome with pulmonary hypertension as a major feature" "True" "true" - "frontotemporal degeneration with dementia" "True" "imperforate oropharynx-costo vetebral anomalies syndrome" "Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989." "" - "hemolytic disease due to fetomaternal alloimmunization" "True" + "obsolete hemolytic disease due to fetomaternal alloimmunization" "" "true" "hemolytic disease of the newborn with Kell alloimmunization" "" "bile acid CoA ligase deficiency and defective amidation" "Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure." "" "obsolete rare tumor of salivary glands" "True" "true" @@ -19275,7 +19214,7 @@ "Machado-Joseph disease type 2" "Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs." "" "Machado-Joseph disease type 3" "Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy." "" "hemihyperplasia-multiple lipomatosis syndrome" "Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated." "" - "osteochondritis dissecans" "A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." "" + "osteochondritis dissecans" "A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis." "" "osteonecrosis of genetic origin" "An instance of osteonecrosis that is caused by a modification of the individual's genome." "" "limbic encephalitis with caspr2 antibodies" "Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia." "" "10q22.3q23.3 microduplication syndrome" "" @@ -19346,6 +19285,7 @@ "inherited ichthyosis syndromic form" "A inherited ichthyosis that is part of a larger syndrome." "" "syndromic recessive X-linked ichthyosis" "Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome." "" "acral self-healing collodion baby" "Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities." "" + "obsolete autosomal ichthyosis syndrome with fatal disease course" "" "true" "obsolete autosomal ichthyosis syndrome with other associated signs" "True" "true" "spastic paraplegia-facial-cutaneous lesions syndrome" "Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982." "" "demodicidosis" "Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings." "" @@ -19372,7 +19312,7 @@ "disorder of melanin metabolism" "" "oculocutaneous or ocular albinism" "Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism." "" "inborn disorder of phenylalanin or tyrosine metabolism" "" - "obsolete Marfan syndrome type 2" "Hypothesized form of Marfan; dubious" "" "true" + "obsolete Marfan syndrome type 2" "OBSOLETE. Hypothesized form of Marfan; dubious" "" "true" "neonatal Marfan syndrome" "Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated." "" "disorder of vitamin and non-protein cofactor absorption and transport" "" "short stature-webbed neck-heart disease syndrome" "Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents." "" @@ -19388,6 +19328,7 @@ "malignancy diagnosed during pregnancy" "" "Pilotto syndrome" "Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975." "" "pyoderma gangrenosum-acne-suppurative hidradenitis syndrome" "" + "obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism" "" "true" "12q15q21.1 microdeletion syndrome" "12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated." "" "microtriplication 11q24.1" "Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia." "" "fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency" "" @@ -19410,8 +19351,8 @@ "POEMS syndrome" "POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels." "" "hereditary acrokeratotic poikiloderma, Weary type" "" "obsolete kindler syndrome" "" "true" - "obsolete rare skin disease" "Rare skin disease." "True" "true" - "obsolete rare head and neck tumor" "Rare head and neck neoplasia." "True" "true" + "obsolete autoinflammatory syndrome with immune deficiency" "" "true" + "obsolete rare head and neck tumor" "OBSOLETE. Rare head and neck neoplasia." "True" "true" "congenital varicella syndrome" "Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection." "" "poliovirus infection" "An disease or disorder caused by infection with Enterovirus C." "" "obsolete polydactyly" "" "true" @@ -19427,6 +19368,7 @@ "acute generalized exanthematous pustulosis" "A widespread acute rash characterized by fever and multiple small pustules on a reddish background." "" "celiac trunk compression syndrome" "" "tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria" "Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." "" + "obsolete methylmalonic acidemia without homocystinuria" "OBSOLETE. Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." "" "true" "Grayson-Wilbrandt corneal dystrophy" "Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." "" "pre-descemet corneal dystrophy" "Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." "" "ketamine-induced biliary dilatation" "Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients." "" @@ -19442,7 +19384,7 @@ "porencephaly" "Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly." "" "2q31.1 microduplication syndrome" "True" "Reunion island Larsen syndrome" "" - "obsolete rare nevus" "Rare nevus." "True" "true" + "obsolete rare nevus" "OBSOLETE. Rare nevus." "True" "true" "postpoliomyelitis syndrome" "Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing." "" "chronic intestinal failure" "Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease)." "" "non-syndromic amelia" "A congenital malformation characterized by the complete absence of all limbs." "" @@ -19452,6 +19394,7 @@ "non-syndromic congenital joint dislocations" "" "non-syndromic limb overgrowth" "" "obsolete dysostosis with combined reduction defects of upper and lower limbs" "" "true" + "obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy" "" "true" "amelia of upper limb" "A non-syndromic amelia that involves the forelimb." "" "amelia of lower limb" "A non-syndromic amelia that involves the hindlimb." "" "tetra-amelia" "" @@ -19630,17 +19573,20 @@ "myospherulosis" "" "X-linked complicated spastic paraplegia type 1" "An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain." "" "obsolete rare tumor of gallbladder and extrahepatic biliary tract" "True" "true" - "obsolete rare tumor of liver and intrahepatic biliary tract" "Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence." "True" "true" + "obsolete rare tumor of liver and intrahepatic biliary tract" "OBSOLETE. Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence." "True" "true" "obsolete rare intoxication due to medical products" "True" "true" + "obsolete parkinsonian syndrome due to neurodegenerative disease" "" "true" "hemiparkinsonism-hemiatrophy syndrome" "Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated." "" "obsolete rare parkinsonian syndrome due to intoxication" "True" "true" "manganese poisoning" "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)" "" "carbon monoxide-induced parkinsonism" "" "cyanide-induced parkinsonism" "Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum." "" "intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome" "" + "obsolete frontotemporal neurodegeneration with movement disorder" "" "true" "obsolete rare tremor disorder" "True" "true" "obsolete rare choreic movement disorder" "True" "true" - "postinfectious autoimmune disease with chorea" "True" + "obsolete neurodegenerative disease with chorea" "" "true" + "obsolete postinfectious autoimmune disease with chorea" "" "true" "Sydenham chorea" "A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures." "" "hemidystonia-hemiatrophy syndrome" "Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD." "" "obsolete rare myoclonus" "True" "true" @@ -19659,9 +19605,9 @@ "intellectual disability-short stature-hypertelorism syndrome" "Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome." "" "obsolete disease with diffuse palmoplantar keratoderma as a major feature" "True" "true" "obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature" "True" "true" - "obsolete disease with focal palmoplantar keratoderma as a major feature" "A disease in which focal palmoplantar keratoderma is a major feature.." "True" "true" + "obsolete disease with focal palmoplantar keratoderma as a major feature" "OBSOLETE. A disease in which focal palmoplantar keratoderma is a major feature.." "True" "true" "focal acral hyperkeratosis" "" - "obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature" "A disease in which punctate palmoplantar keratoderma is a major feature.." "" "true" + "obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature" "OBSOLETE. A disease in which punctate palmoplantar keratoderma is a major feature.." "" "true" "obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature" "" "true" "obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature" "" "true" "erythrokeratoderma variabilis progressiva" "A type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP." "" @@ -19672,7 +19618,7 @@ "disorder of galactose metabolism" "" "erythrocyte galactose epimerase deficiency" "" "generalized galactose epimerase deficiency" "" - "glycogen storage disease due to glycogen synthase deficiency" "True" + "obsolete glycogen storage disease due to glycogen synthase deficiency" "" "true" "glycogen storage disease due to acid maltase deficiency, infantile onset" "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal." "" "glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form" "" "glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form" "" @@ -19687,9 +19633,10 @@ "congenital systemic veins anomaly" "" "congenital anomaly of the great veins" "" "pancreatic colipase deficiency" "" - "combined pancreatic lipase-colipase deficiency" "\"Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990." "" + "combined pancreatic lipase-colipase deficiency" "A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990." "" "inborn disorder of fatty acid oxidation and ketone body metabolism" "" - "metabolic disease due to other fatty acid oxidation disorder" "True" + "obsolete metabolic disease due to other fatty acid oxidation disorder" "" "true" + "obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes" "" "true" "gangliosidosis" "A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway." "" "Sandhoff disease, infantile form" "" "Sandhoff disease, juvenile form" "" @@ -19736,7 +19683,7 @@ "marfanoid habitus-inguinal hernia-advanced bone age syndrome" "" "Xq12-q13.3 duplication syndrome" "Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients." "" "obsolete ameloblastic carcinoma" "" "true" - "obsolete rare odontologic tumor" "Any of the forms of odontogenic neoplasm that have a rare incidence." "True" "true" + "obsolete rare odontologic tumor" "OBSOLETE. Any of the forms of odontogenic neoplasm that have a rare incidence." "True" "true" "Spigelian hernia-cryptorchidism syndrome" "" "Meigs syndrome" "A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass." "" "pseudo-Meigs syndrome" "" @@ -19759,7 +19706,7 @@ "primary localized amyloidosis" "Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." "" "lethal arteriopathy syndrome due to fibulin-4 deficiency" "" "atypical dentin dysplasia due to SMOC2 deficiency" "" - "obsolete obsolete disease with Cushing syndrome as a major feature" "A disease in which Cushing syndrome is a major feature." "" "true" + "obsolete obsolete disease with Cushing syndrome as a major feature" "OBSOLETE. A disease in which Cushing syndrome is a major feature." "" "true" "obsolete functioning pituitary adenoma" "" "true" "mixed functioning pituitary adenoma" "" "somatomammotropinoma" "" @@ -19777,6 +19724,7 @@ "multiple sclerosis-ichthyosis-factor VIII deficiency syndrome" "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992." "" "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form" "The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." "" "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form" "The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." "" + "obsolete autoimmune disease with skin involvement" "OBSOLETE. A hypersensitivity reaction type II disease that involves the skin of body." "" "true" "Sezary syndrome" "Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells)." "" "obsolete partial deletion of the short arm of chromosome 12" "" "true" "Siegler-Brewer-Carey syndrome" "Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed." "" @@ -19815,10 +19763,9 @@ "tubulocystic renal cell carcinoma" "Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (\"bubble wrap-like\") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported." "" "autosomal recessive myogenic arthrogryposis multiplex congenita" "Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life." "" "acute myeloid leukemia with CEBPA somatic mutations" "Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly)." "" - "mendelian susceptibility to mycobacterial diseases due to a complete deficiency" "" - "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" "Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency." "True" - "mendelian susceptibility to mycobacterial diseases due to a partial deficiency" "" - "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8)." "True" + "obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" "OBSOLETE. Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency." "" "true" + "obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" "OBSOLETE. Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency." "" "true" + "obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" "OBSOLETE. Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8)." "" "true" "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency" "Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)." "" "autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." "" "autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" "A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)." "" @@ -19859,7 +19806,7 @@ "ABeta amyloidosis, Italian type" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." "" "ABetaA21G amyloidosis" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." "" "ABeta amyloidosis, Arctic type" "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." "" - "mixed autoinflammatory and autoimmune syndrome" "True" + "obsolete mixed autoinflammatory and autoimmune syndrome" "" "true" "magic syndrome" "" "obsolete JMP syndrome" "" "true" "obsolete CANDLE syndrome" "" "true" @@ -19867,12 +19814,11 @@ "46,XX disorder of sex development induced by endogenous maternal-derived androgen" "" "46,XX disorder of sex development induced by maternal-derived androgen" "" "46,XX disorder of sex development induced by exogenous maternal-derived androgen" "" - "syndrome with 46,XX disorder of sex development" "True" + "obsolete syndrome with 46,XX disorder of sex development" "" "true" "testicular agenesis" "" "46,XY ovotesticular disorder of sex development" "46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated." "" - "46,XY disorder of sex development due to impaired androgen production" "True" - "46,XY disorder of sex development due to a cholesterol synthesis defect" "True" - "46,XY disorder of sex development due to a testosterone synthesis defect" "True" + "obsolete 46,XY disorder of sex development due to impaired androgen production" "" "true" + "obsolete 46,XY disorder of sex development due to a cholesterol synthesis defect" "" "true" "classic congenital lipoid adrenal hyperplasia due to STAR deficency" "" "non-classic congenital lipoid adrenal hyperplasia due to STAR deficency" "" "46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors" "" @@ -19894,6 +19840,7 @@ "spondylocostal dysostosis-hypospadias-intellectual disability syndrome" "" "obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency" "" "true" "telecanthus-hypertelorism-strabismus-pes cavus syndrome" "Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia." "" + "obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement" "" "true" "fatty acid hydroxylase-associated neurodegeneration" "Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus." "" "hereditary thrombocytosis with transverse limb defect" "Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly." "" "inverse Klippel-Trenaunay syndrome" "" @@ -19914,6 +19861,7 @@ "goblet cell carcinoma" "Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis." "" "wild type ATTR amyloidosis" "" "lead poisoning" "5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs." "" + "mercury poisoning" "Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity." "" "hypotrichosis-deafness syndrome" "" "hemoglobin Lepore-beta-thalassemia syndrome" "" "hemoglobin M disease" "" @@ -19927,9 +19875,11 @@ "obsolete constitutional neutropenia with extra-hematopoietic manifestations" "" "true" "obsolete other immunodeficiency syndromes due to defects in innate immunity" "True" "true" "thalidomide embryopathy" "A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment." "" + "obsolete immunodeficiency due to absence of thymus" "" "true" "obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells" "" "true" "selective IgM deficiency" "Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement." "" "obsolete other immunodeficiency syndrome with predominantly antibody defects" "True" "true" + "obsolete immunodeficiency syndrome with abnormal pigmentation" "" "true" "Thomas syndrome" "Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive." "" "Hoyeraal-Hreidarsson syndrome" "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." "" "thrombocytopenia-robin sequence syndrome" "" @@ -19938,7 +19888,6 @@ "obsolete Kaposi sarcoma" "" "true" "Jessner lymphocytic infiltration of the skin" "Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck." "" "hypoplastic tibiae-postaxial polydactyly syndrome" "Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands." "" - "male infertility due to sperm disorder" "True" "pediatric hepatocellular carcinoma" "Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age." "" "bullous lichen planus" "Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions." "" "obsolete toxocariasis" "" "true" @@ -19960,7 +19909,7 @@ "obsolete American trypanosomiasis" "" "true" "pulmonary non-tuberculous mycobacterial infection" "" "malignant soft tissue neoplasm" "A malignant neoplasm arising exclusively from the soft tissues." "" - "obsolete rare germ cell tumor" "Rare germ cell tumor." "True" "true" + "obsolete rare germ cell tumor" "OBSOLETE. Rare germ cell tumor." "True" "true" "hemorrhagic fever-renal syndrome" "Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations." "" "aorto-ventricular tunnel" "Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle." "" "transient tyrosinemia of the newborn" "Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." "" @@ -19972,6 +19921,7 @@ "double outlet left ventricle" "Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle." "" "microcephaly-brachydactyly-kyphoscoliosis syndrome" "Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait." "" "Vogt-Koyanagi-Harada disease" "A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations." "" + "obsolete pigmentation disorder with eye involvement, excluding albinism" "" "true" "Weaver-Williams syndrome" "Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977." "" "autosomal dominant limb-girdle muscular dystrophy type 1E (DES)" "Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions." "" "obsolete Whipple disease" "" "true" @@ -19983,7 +19933,8 @@ "lethal idiopathic viral infection" "" "idiopathic severe pneumococcemia" "" "epidermal nevus syndrome" "A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities." "" - "disorder of phospholipids, sphingolipids and fatty acids biosynthesis" "" + "obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement" "" "true" + "obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement" "" "true" "mitochondrial DNA maintenance syndrome" "An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance." "" "digital anomalies-intellectual disability-short stature syndrome" "" "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features." "" @@ -19995,6 +19946,7 @@ "autosomal recessive cerebellar ataxia with late-onset spasticity" "Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated." "" "brain dopamine-serotonin vesicular transport disease" "Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." "" "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion" "" + "obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies" "OBSOLETE. Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy." "" "true" "attenuated Chédiak-Higashi syndrome" "Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." "" "minimal pigment oculocutaneous albinism type 1" "Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." "" "temperature-sensitive oculocutaneous albinism type 1" "Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." "" @@ -20011,6 +19963,7 @@ "serpiginous choroiditis" "Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications." "" "Erdheim-Chester disease" "Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement." "" "3q26q27 microdeletion syndrome" "" + "obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis" "" "true" "atypical hemolytic-uremic syndrome with DGKE deficiency" "" "hereditary retinoblastoma" "An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." "" "non-hereditary retinoblastoma" "" @@ -20075,6 +20028,7 @@ "intellectual disability-seizures-macrocephaly-obesity syndrome" "Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality." "" "finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome" "" "diffuse palmoplantar keratoderma with painful fissures" "" + "obsolete glycogen storage disease due to phosphorylase kinase deficiency" "OBSOLETE. A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency." "" "true" "focal palmoplantar keratoderma with joint keratoses" "" "intellectual disability-facial dysmorphism-hand anomalies syndrome" "" "spondyloepimetaphyseal dysplasia, Isidor type" "" @@ -20092,19 +20046,25 @@ "combined cervical dystonia" "" "Medich giant platelet syndrome" "Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." "" "white platelet syndrome" "White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." "" - "obsolete small cell carcinoma of the ovary" "A small cell carcinoma that involves the ovary." "" "true" + "obsolete small cell carcinoma of the ovary" "OBSOLETE. A small cell carcinoma that involves the ovary." "" "true" "XYLT1-CDG" "" "GM3 synthase deficiency" "GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications." "" "obsolete salt and pepper syndrome" "" "true" "congenital muscular dystrophy with intellectual disability" "" "muscle-eye-brain disease with bilateral multicystic leucodystrophy" "Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts." "" "congenital muscular dystrophy with hyperlaxity" "Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time." "" + "obsolete congenital disorder of glycosylation with neurological involvement" "" "true" "obsolete X-linked congenital disorder of glycosylation with intellectual disability as a major feature" "True" "true" "obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature" "True" "true" "obsolete congenital disorder of glycosylation with epilepsy as a major feature" "True" "true" + "obsolete congenital disorder of glycosylation with hepatic involvement" "" "true" + "obsolete congenital disorder of glycosylation with dilated cardiomyopathy" "" "true" "obsolete congenital disorder of glycosylation with cardiac malformation as a major feature" "True" "true" + "obsolete congenital disorder of glycosylation with intestinal involvement" "" "true" + "obsolete congenital disorder of glycosylation with skin involvement" "" "true" "obsolete congenital disorder of glycosylation with nephropathy as a major feature" "True" "true" "obsolete congenital disorder of glycosylation with deafness as a major feature" "True" "true" + "obsolete congenital disorder of glycosylation with developmental anomaly" "" "true" "obsolete hypotonia-speech impairment-severe cognitive delay syndrome" "" "true" "multicentric osteolysis-nodulosis-arthropathy spectrum" "A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations." "" "obsolete sphingolipidosis with epilepsy" "" "true" @@ -20130,7 +20090,7 @@ "multiple acyl-CoA dehydrogenase deficiency, severe neonatal type" "" "multiple acyl-CoA dehydrogenase deficiency, mild type" "" "chronic hiccup" "Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours." "" - "deep dermatophytosis" "True" + "obsolete deep dermatophytosis" "" "true" "obsolete Silver-Russell syndrome due to a point mutation" "" "true" "PrP systemic amyloidosis" "Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid." "" "3q27.3 microdeletion syndrome" "3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus." "" @@ -20166,22 +20126,28 @@ "obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder" "True" "true" "obsolete rare male infertility due to adrenal disorder" "True" "true" "obsolete rare male infertility due to testicular endocrine disorder" "True" "true" - "male infertility due to gonadal dysgenesis or sperm disorder" "True" - "male infertility with spermatogenesis disorder due to single gene mutation" "True" + "obsolete male infertility due to gonadal dysgenesis or sperm disorder" "" "true" + "obsolete male infertility due to sperm disorder" "" "true" + "obsolete male infertility with spermatogenesis disorder" "" "true" + "obsolete male infertility with spermatogenesis disorder due to single gene mutation" "" "true" "obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder" "True" "true" + "obsolete female infertility due to a congenital hypogonadotropic hypogonadism" "" "true" "obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism" "" "true" "obsolete rare female infertility due to an adrenal disorder" "True" "true" "obsolete female infertility due to an anomaly of ovarian function" "True" "true" - "obsolete rare genetic male infertility" "Rare genetic male infertility." "True" "true" - "obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin" "An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." "True" "true" + "obsolete female infertility due to gonadal dysgenesis" "" "true" + "obsolete female infertility due to an implantation defect" "" "true" + "obsolete rare genetic male infertility" "OBSOLETE. Rare genetic male infertility." "True" "true" + "obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin" "OBSOLETE. An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." "True" "true" "obsolete rare male infertility due to adrenal disorder of genetic origin" "True" "true" + "obsolete male infertility due to obstructive azoospermia of genetic origin" "" "true" "cystic echinococcosis" "" "echinococcus granulosus infectious disease" "An disease or disorder caused by infection with Echinococcus granulosus." "" "obsolete rare genetic female infertility" "True" "true" - "obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin" "An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." "True" "true" + "obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin" "OBSOLETE. An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome." "True" "true" "obsolete rare female infertility due to adrenal disorder of genetic origin" "True" "true" "obsolete female infertility due to an anomaly of ovarian function of genetic origin" "True" "true" - "female infertility due to an implantation defect of genetic origin" "True" + "obsolete female infertility due to an implantation defect of genetic origin" "" "true" "obsolete hymenolepiasis" "" "true" "autosomal recessive spastic paraplegia type 59" "" "autosomal recessive spastic paraplegia type 60" "" @@ -20207,7 +20173,7 @@ "obsolete hepatitis delta" "" "true" "acitretin/etretinate embryopathy" "Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies." "" "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome" "" - "female infertility due to fertilization defect" "True" + "obsolete female infertility due to fertilization defect" "" "true" "global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome" "" "chondromyxoid fibroma" "An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." "" "clear cell papillary renal cell carcinoma" "Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome." "" @@ -20245,18 +20211,18 @@ "cono-spondylar dysplasia" "Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies." "" "microcephaly-short stature-intellectual disability-facial dysmorphism syndrome" "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism." "" "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome" "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination." "" - "obsolete rare autonomic nervous system disorder" "Rare autonomic nervous system disease." "True" "true" + "obsolete rare autonomic nervous system disorder" "OBSOLETE. Rare autonomic nervous system disease." "True" "true" "double outlet right ventricle with subaortic or doubly committed ventricular septal defect" "" "double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy" "" "cutaneous larva migrans" "Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances." "" - "obsolete rare carcinoma of stomach" "Rare stomach carcinoma." "True" "true" + "obsolete rare carcinoma of stomach" "OBSOLETE. Rare stomach carcinoma." "True" "true" "carcinoma of stomach, salivary gland type" "" "undifferentiated carcinoma of stomach" "A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation." "" - "obsolete rare tumor of small intestine" "Any of the forms of small intestine neoplasm that have a rare incidence." "True" "true" + "obsolete rare tumor of small intestine" "OBSOLETE. Any of the forms of small intestine neoplasm that have a rare incidence." "True" "true" "microcephaly-complex motor and sensory axonal neuropathy syndrome" "Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis." "" - "obsolete rare carcinoma of small intestine" "Any of the forms of small intestine carcinoma that have a rare incidence." "True" "true" - "obsolete rare epithelial tumor of colon" "Any of the forms of epithelial tumor of colon that have a rare incidence." "True" "true" - "obsolete rare epithelial tumor of rectum" "Any of the forms of epithelial neoplasm of rectum that have a rare incidence." "True" "true" + "obsolete rare carcinoma of small intestine" "OBSOLETE. Any of the forms of small intestine carcinoma that have a rare incidence." "True" "true" + "obsolete rare epithelial tumor of colon" "OBSOLETE. Any of the forms of epithelial tumor of colon that have a rare incidence." "True" "true" + "obsolete rare epithelial tumor of rectum" "OBSOLETE. Any of the forms of epithelial neoplasm of rectum that have a rare incidence." "True" "true" "obsolete obsolete carcinoma of the anal canal" "" "true" "obsolete adenocarcinoma of the anal canal" "" "true" "obsolete squamous cell carcinoma of the anal canal" "" "true" @@ -20279,12 +20245,13 @@ "serotonin syndrome" "Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs)." "" "acute tricyclic antidepressant poisoning" "Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death." "" "acute poisoning by drugs with membrane-stabilizing effect" "Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine." "" + "obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies" "" "true" "patent urachus" "Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus." "" "congenital urachal anomaly" "Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum." "" "urachal sinus" "Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected." "" "urachal diverticulum" "Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications." "" "Lambert-Eaton myasthenic syndrome" "Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC)." "" - "obsolete rare genetic autonomic nervous system disorder" "Rare genetic autonomic nervous system disease." "True" "true" + "obsolete rare genetic autonomic nervous system disorder" "OBSOLETE. Rare genetic autonomic nervous system disease." "True" "true" "anterior urethral valve" "" "3p25.3 microdeletion syndrome" "3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements." "" "short stature-advanced bone age-early-onset osteoarthritis syndrome" "" @@ -20313,7 +20280,7 @@ "single-organ polyarteritis nodosa" "Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common." "" "systemic polyarteritis nodosa" "Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement." "" "plastic bronchitis" "A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe." "" - "obsolete neonatal adrenoleukodystrophy" "Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD)." "" "true" + "obsolete neonatal adrenoleukodystrophy" "OBSOLETE. Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD)." "" "true" "congenital oculomotor nerve palsy" "" "congenital abducens nerve palsy" "" "autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome" "" @@ -20329,6 +20296,7 @@ "hemicrania continua" "Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied." "" "central serous chorioretinopathy" "Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals." "" "baroreflex failure" "Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques." "" + "obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect" "" "true" "obsolete hyperinsulinemic hypoglycaemia" "" "true" "hypothalamic adipsic hypernatraemia syndrome" "" "lymphoplasmacytic lymphoma without IgM production" "" @@ -20352,7 +20320,7 @@ "IgG4-related sclerosing cholangitis" "" "secondary sclerosing cholangitis" "" "Keratocystic odontogenic tumor" "An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence." "" - "cerebral visual impairment" "A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information." "True" + "obsolete cerebral visual impairment" "OBSOLETE. A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information." "True" "true" "obsolete hemochromatosis type 5" "" "true" "obsolete lipoyl transferase 2 deficiency" "" "true" "obsolete biological anomaly without phenotypic characterization" "" "true" @@ -20420,9 +20388,9 @@ "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome" "" "corpus callosum agenesis-macrocephaly-hypertelorism syndrome" "" "obsolete immunodeficiency due to a complement cascade component deficiency" "" "true" - "immunodeficiency due to a complement regulatory deficiency" "True" + "obsolete immunodeficiency due to a complement regulatory deficiency" "" "true" "obsolete rare genetic capillary malformation" "True" "true" - "obsolete rare genetic venous malformation" "An instance of rare venous malformation that is caused by a modification of the individual's genome." "True" "true" + "obsolete rare genetic venous malformation" "OBSOLETE. An instance of rare venous malformation that is caused by a modification of the individual's genome." "True" "true" "" "true" "intellectual disability syndrome due to a DYRK1A point mutation" "" "verrucous hemangioma" "A skin hemangioma characterized by the presence of epidermal hyperplasia." "" @@ -20437,7 +20405,7 @@ "acquired epidermolysis bullosa" "Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB." "" "linear IgA Dermatosis" "Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin)." "" "hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome" "Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." "" - "class I glucose-6-phosphate dehydrogenase deficiency" "True" + "obsolete class I glucose-6-phosphate dehydrogenase deficiency" "" "true" "exercise-induced malignant hyperthermia" "" "obsolete rare disease with malignant hyperthermia" "True" "true" "cyanide poisoning" "" @@ -20459,13 +20427,12 @@ "congenital generalized hypercontractile muscle stiffness syndrome" "" "fibroblastic rheumatism" "" "pediatric multiple sclerosis" "Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported." "" - "obsolete nodular fasciitis" "A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." "" "true" + "obsolete nodular fasciitis" "OBSOLETE. A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." "" "true" "pontine autosomal dominant microangiopathy with leukoencephalopathy" "" - "COL4A1 or COL4A2-related cerebral small vessel disease" "" - "COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy" "True" + "obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy" "" "true" "primary condylar hyperplasia" "" "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder" "" - "obsolete rare hypercholesterolemia" "Rare hypercholesterolemia." "True" "true" + "obsolete rare hypercholesterolemia" "OBSOLETE. Rare hypercholesterolemia." "True" "true" "" "true" "" "true" "MYO5B-related progressive familial intrahepatic cholestasis" "" @@ -20529,7 +20496,7 @@ "Roch-Leri mesosomatous lipomatosis" "Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." "" "orbital leiomyoma" "Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported." "" "obsolete listeriosis" "" "true" - "obsolete rare cutaneous lupus erythematosus" "Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE)." "True" "true" + "obsolete rare cutaneous lupus erythematosus" "OBSOLETE. Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE)." "True" "true" "Lyell syndrome" "Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area." "" "Wyburn-Mason syndrome" "Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex." "" "benign eyelid neoplasm" "A non-metastasizing neoplasm that arises from the upper or lower eyelid." "" @@ -20544,9 +20511,10 @@ "obsolete Marfan syndrome" "" "true" "McCune-Albright syndrome" "McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafC)-au-lait skin spots, and precocious puberty (PP)." "" "peripartum cardiomyopathy" "Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery." "" + "obsolete cerebral disease with cataract" "" "true" "cold agglutinin disease" "Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C)." "" "SUNCT syndrome" "SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing)." "" - "obsolete rare hepatic disease" "Rare liver disease." "True" "true" + "obsolete rare hepatic disease" "OBSOLETE. Rare liver disease." "True" "true" "medial condensing osteitis of the clavicle" "" "monosomy 21" "Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." "" "total autosomal monosomy" "True" @@ -20618,18 +20586,17 @@ "obsolete rare maxillo-facial surgical disease" "True" "true" "obsolete rare genetic inherited tumor" "True" "true" "obsolete rare genetic skin disease" "True" "true" - "obsolete rare sleep disorder" "A rare form of sleep disorder." "True" "true" - "obsolete rare deafness" "Any of the forms of hearing loss that have a rare incidence." "True" "true" - "obsolete rare vascular disease" "Any of the forms of vascular disease that have a rare incidence." "True" "true" - "obsolete rare dystonia" "Rare dystonia." "True" "true" + "obsolete rare sleep disorder" "OBSOLETE. A rare form of sleep disorder." "True" "true" + "obsolete rare deafness" "OBSOLETE. Any of the forms of hearing loss that have a rare incidence." "True" "true" + "obsolete rare vascular disease" "OBSOLETE. Any of the forms of vascular disease that have a rare incidence." "True" "true" + "obsolete rare dystonia" "OBSOLETE. Rare dystonia." "True" "true" "obsolete lysosomal disease" "" "true" "obsolete mitochondrial disease" "" "true" "obsolete rare constitutional aplastic anemia" "" "true" - "obsolete rare parkinsonian disorder" "Rare parkinsonian disorder." "True" "true" + "obsolete rare parkinsonian disorder" "OBSOLETE. Rare parkinsonian disorder." "True" "true" "obsolete rare parathyroid disease and phosphocalcic metabolism anomaly" "True" "true" - "obsolete rare infectious disease" "Rare infectious disease." "True" "true" - "obsolete rare circulatory system disease" "A rare form of cardiovascular disease." "True" "true" - "proteostasis deficiencies" "Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins." "" + "obsolete rare infectious disease" "OBSOLETE. Rare infectious disease." "True" "true" + "obsolete rare circulatory system disease" "OBSOLETE. A rare form of cardiovascular disease." "True" "true" "idiopathic steroid-sensitive nephrotic syndrome" "Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits." "" "congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization" "Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life." "" "obsolete rhabdoid tumor" "" "true" @@ -20652,9 +20619,9 @@ "infantile apnea" "Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea." "" "immunodeficiency due to selective anti-polysaccharide antibody deficiency" "Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR)." "" "congenital Epstein-Barr virus infection" "Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection." "" - "obsolete rare pulmonary hypertension" "Rare pulmonary hypertension." "True" "true" - "obsolete hemorrhagic disorder due to a constitutional platelet anomaly" "A hemorrhagic disorder due to a platelet anomaly which occurs from birth." "True" "true" - "obsolete rare soft tissue tumor" "Any of the forms of soft tissue neoplasm that have a rare incidence." "True" "true" + "obsolete rare pulmonary hypertension" "OBSOLETE. Rare pulmonary hypertension." "True" "true" + "obsolete hemorrhagic disorder due to a constitutional platelet anomaly" "OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which occurs from birth." "True" "true" + "obsolete rare soft tissue tumor" "OBSOLETE. Any of the forms of soft tissue neoplasm that have a rare incidence." "True" "true" "neuromyelitis optica" "Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis." "" "autoimmune/inflammatory optic neuropathy" "" "retinal capillary malformation" "Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." "" @@ -20671,7 +20638,7 @@ "benign paroxysmal torticollis of infancy" "Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children." "" "psychogenic movement disorders" "Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype." "" "obesity due to melanocortin 4 receptor deficiency" "Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function." "" - "obsolete catecholamine-producing tumor" "Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas)." "" "true" + "obsolete catecholamine-producing tumor" "OBSOLETE. Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas)." "" "true" "pili bifurcati" "Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." "" "pneumocystosis" "Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole." "" "idiopathic acute eosinophilic pneumonia" "Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection." "" @@ -20700,10 +20667,10 @@ "obsolete pseudoxanthoma elasticum" "" "true" "6q terminal deletion syndrome" "6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations." "" "obsolete strongyloidiasis" "" "true" - "immunoglobulin a vasculitis" "SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement." "" + "immunoglobulin a vasculitis" "A systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement." "" "pyomyositis" "Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation." "" "rabies" "Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated." "" - "obsolete infantile Refsum disease" "Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD)." "" "true" + "obsolete infantile Refsum disease" "OBSOLETE. Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD)." "" "true" "odontoleukodystrophy" "Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive." "" "auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome" "The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities." "" "monosomy 9q22.3" "Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children." "" @@ -20754,7 +20721,7 @@ "nail anomaly" "A epidermal appendage anomaly that involves the nail." "" "genetic nail anomaly" "An instance of nail anomaly that is caused by a modification of the individual's genome." "" "obsolete rare genetic dermis disorder" "True" "true" - "obsolete rare urticaria" "Rare urticaria." "True" "true" + "obsolete rare urticaria" "OBSOLETE. Rare urticaria." "True" "true" "obsolete mucopolysaccharidosis with skin involvement" "" "true" "obsolete rare photodermatosis" "True" "true" "generalized junctional epidermolysis bullosa non-Herlitz type" "Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." "" @@ -20787,7 +20754,7 @@ "antisynthetase syndrome" "Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)." "" "shigellosis" "Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts." "" "sialidosis type 1" "Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life." "" - "obsolete Ehlers-Danlos syndrome with periventricular heterotopia" "Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva." "" "true" + "obsolete Ehlers-Danlos syndrome with periventricular heterotopia" "OBSOLETE. Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva." "" "true" "obsolete sporotrichosis" "" "true" "adult-onset Still disease" "A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash." "" "congenital narrowing of cervical spinal canal" "Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances." "" @@ -20903,7 +20870,7 @@ "epilepsy with myoclonic absences" "" "myoclonic epilepsy in non-progressive encephalopathies" "A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances." "" "diffuse palmoplantar keratoderma - acrocyanosis syndrome" "Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant." "" - "obsolete rare intellectual disability" "Rare intellectual disability." "True" "true" + "obsolete rare intellectual disability" "OBSOLETE. Rare intellectual disability." "True" "true" "obsolete desmoid tumor" "" "true" "primary adult heart tumor" "Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms)." "" "primary pediatric heart tumor" "Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic." "" @@ -20913,9 +20880,10 @@ "obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome" "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established." "" "cutaneous leukocytoclastic angiitis" "Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms." "" "obsolete autosomal dominant medullary cystic kidney disease without hyperuricemia" "" "true" - "autosomal dominant medullary cystic kidney disease with hyperuricemia" "An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout." "" + "autosomal dominant medullary cystic kidney disease with hyperuricemia" "An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout." "True" "digestive tract malformation" "" - "obsolete rare dementia" "Rare dementia." "True" "true" + "obsolete rare dementia" "OBSOLETE. Rare dementia." "True" "true" + "obsolete rare skin disease" "OBSOLETE. Rare skin disease." "True" "true" "centripetalis recessive dystrophic epidermolysis bullosa" "Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk." "" "recessive dystrophic epidermolysis bullosa-generalized other" "Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." "" "obsolete Walker-Warburg syndrome" "" "true" @@ -20973,7 +20941,10 @@ "localized lichen myxedematosus with mixed features of different subtypes" "Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM." "" "localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms" "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia." "" "scleromyxedema without monoclonal gammopathy" "Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent." "" - "obsolete disorder of sex development" "In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included." "" "true" + "obsolete disorder of sex development" "OBSOLETE. In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included." "" "true" + "obsolete 46,XY disorder of sex development due to a testosterone synthesis defect" "" "true" + "obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect" "" "true" + "obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect" "" "true" "obsolete fragile X syndrome" "" "true" "primary lipodystrophy" "Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy)." "" "obsolete other inborn metabolic disease" "True" "true" @@ -21034,11 +21005,13 @@ "genochondromatosis type 2" "Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign." "" "juvenile sialidosis type 2" "" "congenital sialidosis type 2" "" - "obsolete rare bone disease" "Rare bone disease." "True" "true" + "obsolete rare bone disease" "OBSOLETE. Rare bone disease." "True" "true" "obsolete type 11 collagen-related bone disorder" "" "true" "obsolete cleidocranial dysplasia and isolated cranial ossification defect" "" "true" "obsolete dysostosis with predominant craniofacial involvement" "" "true" "obsolete dysostosis with predominant vertebral and costal involvement" "" "true" + "obsolete syndrome with synostosis or other joint formation defect" "" "true" + "obsolete chromosomal disease with overgrowth" "" "true" "pediatric systemic lupus erythematosus" "" "type II mixed cryoglobulinemia" "Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody)." "" "mixed cryoglobulinemia type III" "Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs." "" @@ -21058,9 +21031,10 @@ "obsolete rare renal tubular disease" "True" "true" "cystinuria type A" "" "cystinuria type B" "" + "obsolete hematological disorder with renal involvement" "" "true" "obsolete rare cause of hypertension" "True" "true" - "obsolete rare renal tumor" "Any of the forms of kidney neoplasm that have a rare incidence." "True" "true" - "obsolete rare renal disease" "Any of the forms of urinary system disease that have a rare incidence." "True" "true" + "obsolete rare renal tumor" "OBSOLETE. Any of the forms of kidney neoplasm that have a rare incidence." "True" "true" + "obsolete rare renal disease" "OBSOLETE. Any of the forms of urinary system disease that have a rare incidence." "True" "true" "pediatric Castleman disease" "Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms." "" "localized Castleman disease" "Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection." "" "multicentric Castleman disease" "Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein." "" @@ -21078,7 +21052,7 @@ "X-linked dominant intellectual disability-epilepsy syndrome" "" "oromandibular dystonia" "Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." "" "blepharospasm-oromandibular dystonia syndrome" "Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia." "" - "Holmes-Gang syndrome" "Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "" + "Holmes-Gang syndrome" "Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "True" "Chudley-Lowry-Hoar syndrome" "Chudley-Lowry syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation-hypotonic facies)." "" "Juberg-Marsidi syndrome" "Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "" "Carpenter-Waziri syndrome" "Carpenter-Waziri syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies)." "" @@ -21130,11 +21104,13 @@ "posterior hypospadias" "Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed." "" "isolated micropenis" "" "obsolete precocious puberty" "" "true" - "congenital hypothyroidism due to developmental anomaly" "Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." "True" + "obsolete congenital hypothyroidism due to developmental anomaly" "OBSOLETE. Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." "" "true" "thyroid ectopia" "Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "" "athyreosis" "Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "" + "obsolete primary congenital hypothyroidism without thyroid developmental anomaly" "OBSOLETE. Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal." "" "true" "congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies" "Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent." "" "idiopathic congenital hypothyroidism" "Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown." "" + "obsolete congenital thyroid malformation without hypothyroidism" "" "true" "thyroid hemiagenesis" "Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "" "thyroid hypoplasia" "Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "" "levocardia" "A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation." "" @@ -21230,7 +21206,7 @@ "obsolete somatostatinoma" "" "true" "bronchial endocrine tumor" "A neuroendocrine neoplasm that involves the bronchus." "" "thymic neuroendocrine tumor" "Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively." "" - "obsolete rare benign ovarian tumor" "Any of the forms of ovarian benign neoplasm that have a rare incidence." "True" "true" + "obsolete rare benign ovarian tumor" "OBSOLETE. Any of the forms of ovarian benign neoplasm that have a rare incidence." "True" "true" "obsolete thoracic outlet syndrome" "" "true" "Kienbock disease" "Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function." "" "obsolete Osgood-Schlatter disease" "" "true" @@ -21248,7 +21224,7 @@ "unilateral multicystic dysplastic kidney" "Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional." "" "bilateral multicystic dysplastic kidney" "Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional." "" "multiloculated renal cyst" "" - "renal tubular dysgenesis due to twin-twin transfusion" "'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS) is an acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).'" "" + "renal tubular dysgenesis due to twin-twin transfusion" "An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects)." "" "drug-related renal tubular dysgenesis" "" "sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy" "" "obsolete congenital and infantile nephrotic syndrome" "" "true" @@ -21258,69 +21234,82 @@ "immunotactoid glomerulopathy" "Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases." "" "congenital renal artery stenosis" "A narrowing of renal arteries that is present since birth." "" "maternal uniparental disomy of chromosome 13" "Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier." "" - "obsolete rare cardiac disease" "Rare heart disease." "True" "true" + "obsolete rare cardiac disease" "OBSOLETE. Rare heart disease." "True" "true" "obsolete rare gastroenterologic disease" "True" "true" - "obsolete rare respiratory disease" "Rare respiratory system disease." "True" "true" + "obsolete rare respiratory disease" "OBSOLETE. Rare respiratory system disease." "True" "true" "obsolete rare surgical thoracic disease" "True" "true" "obsolete rare surgical cardiac disease" "True" "true" - "obsolete rare eye disease" "Rare eye disease." "True" "true" - "obsolete rare endocrine disease" "Rare endocrine system disease." "True" "true" + "obsolete rare eye disease" "OBSOLETE. Rare eye disease." "True" "true" + "obsolete rare endocrine disease" "OBSOLETE. Rare endocrine system disease." "True" "true" "obsolete rare hematologic disease" "" "true" "absence of the pulmonary artery" "Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age." "" - "obsolete rare immune disease" "Rare immune system disease." "True" "true" - "obsolete rare neurologic disease" "Rare nervous system disease." "True" "true" - "obsolete rare headache disorder" "Rare headache disorder." "True" "true" + "obsolete rare immune disease" "OBSOLETE. Rare immune system disease." "True" "true" + "obsolete rare neurologic disease" "OBSOLETE. Rare nervous system disease." "True" "true" + "obsolete rare headache disorder" "OBSOLETE. Rare headache disorder." "True" "true" "obsolete systemic or rheumatic disease" "" "true" "obsolete rare odontologic disease" "True" "true" "obsolete rare disease with odontological manifestation" "True" "true" "obsolete rare neurologic disease with psychiatric involvement" "True" "true" - "obsolete rare otorhinolaryngologic disease" "Any of the forms of otorhinolaryngologic disease that have a rare incidence." "True" "true" - "obsolete rare infertility" "Rare infertility." "True" "true" - "obsolete rare male infertility" "Rare male infertility." "True" "true" - "obsolete rare female infertility" "Rare female infertility." "True" "true" - "obsolete rare allergic disease" "Rare allergic hypersensitivity disease." "True" "true" - "obsolete rare allergic respiratory disease" "Rare respiratory allergy." "True" "true" - "obsolete rare genetic cardiac disease" "Rare genetic heart disease." "True" "true" + "obsolete rare otorhinolaryngologic disease" "OBSOLETE. Any of the forms of otorhinolaryngologic disease that have a rare incidence." "True" "true" + "obsolete rare infertility" "OBSOLETE. Rare infertility." "True" "true" + "obsolete rare male infertility" "OBSOLETE. Rare male infertility." "True" "true" + "obsolete rare female infertility" "OBSOLETE. Rare female infertility." "True" "true" + "obsolete rare allergic disease" "OBSOLETE. Rare allergic hypersensitivity disease." "True" "true" + "obsolete rare allergic respiratory disease" "OBSOLETE. Rare respiratory allergy." "True" "true" + "obsolete rare genetic cardiac disease" "OBSOLETE. Rare genetic heart disease." "True" "true" "obsolete rare genetic renal disease" "True" "true" - "obsolete rare tumor" "Rare disease of cellular proliferation." "True" "true" - "obsolete rare urinary tract tumor" "Rare urinary system benign neoplasm." "True" "true" - "obsolete rare digestive tumor" "Any of the forms of digestive system neoplasm that have a rare incidence." "True" "true" - "obsolete rare respiratory tract neoplasm" "Any of the forms of respiratory tract neoplasm that have a rare incidence." "True" "true" - "obsolete rare nervous system tumor" "Rare nervous system cancer." "True" "true" - "obsolete rare gynecological tumor" "Rare female reproductive system neoplasm." "True" "true" + "obsolete rare tumor" "OBSOLETE. Rare disease of cellular proliferation." "True" "true" + "obsolete rare urinary tract tumor" "OBSOLETE. Rare urinary system benign neoplasm." "True" "true" + "obsolete rare digestive tumor" "OBSOLETE. Any of the forms of digestive system neoplasm that have a rare incidence." "True" "true" + "obsolete rare respiratory tract neoplasm" "OBSOLETE. Any of the forms of respiratory tract neoplasm that have a rare incidence." "True" "true" + "obsolete rare nervous system tumor" "OBSOLETE. Rare nervous system cancer." "True" "true" + "obsolete rare gynecological tumor" "OBSOLETE. Rare female reproductive system neoplasm." "True" "true" "obsolete gonadal dysgenesis of gynecological interest" "" "true" - "autosomal recessive cerebellar ataxia due to a DNA repair defect" "True" + "obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue" "" "true" + "obsolete syndrome with 46,XY disorder of sex development" "" "true" + "obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect" "" "true" "internal carotid agenesis" "Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography." "" - "autosomal trisomy" "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number." "True" + "autosomal trisomy" "True" "gonosome anomaly" "" "gonosome structural anomaly" "True" "myelodysplastic/myeloproliferative disease" "Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS." "" - "acute myeloid leukemia with recurrent genetic anomaly" "A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001)" "True" + "obsolete acute myeloid leukemia with recurrent genetic anomaly" "OBSOLETE. A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001)" "" "true" "obsolete plasma cell tumor" "" "true" "obsolete histiocytic and dendritic cell tumor" "" "true" "lymphoproliferative disease associated with primary immune disease" "" "obsolete mastocytosis" "" "true" "obsolete idiopathic interstitial pneumonia" "" "true" + "obsolete male infertility due to gonadal dysgenesis" "" "true" + "obsolete male infertility due to obstructive azoospermia" "" "true" "obsolete rare idiopathic male infertility" "" "true" - "obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature" "Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature." "True" "true" - "obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature" "Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature." "True" "true" - "obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature" "Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature." "True" "true" - "obsolete rare hemolytic anemia" "Rare hemolytic anemia." "True" "true" + "obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature" "OBSOLETE. Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature." "True" "true" + "obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature" "OBSOLETE. Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature." "True" "true" + "obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature" "OBSOLETE. Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature." "True" "true" + "obsolete constitutional anemia due to iron metabolism disorder" "" "true" + "obsolete rare hemolytic anemia" "OBSOLETE. Rare hemolytic anemia." "True" "true" + "obsolete constitutional hemolytic anemia due to membrane defect" "OBSOLETE. A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis." "" "true" + "obsolete constitutional hemolytic anemia due to acanthocytosis" "" "true" "obsolete rare constitutional hemolytic anemia due to an enzyme disorder" "True" "true" - "hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies" "True" + "obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies" "" "true" + "obsolete hemolytic anemia due to a disorder of glycolytic enzymes" "" "true" + "obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder" "" "true" "non-autoimmune hemolytic anemia" "Hemolytic anemia that is not mediated by immune mechanisms." "" + "obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder" "" "true" "pulmonary agenesis" "An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities." "" + "obsolete constitutional megaloblastic anemia due to folate metabolism disorder" "" "true" "obsolete polycythemia" "" "true" - "obsolete rare blood coagulation disease" "Any of the forms of blood coagulation disease that have a rare incidence." "True" "true" + "obsolete rare blood coagulation disease" "OBSOLETE. Any of the forms of blood coagulation disease that have a rare incidence." "True" "true" "idiopathic inflammatory myopathy" "Idiopathic form of inflammatory myopathy." "" "synaptopathy" "A disease caused by dysfunction of synapses." "" - "obsolete rare peripheral neuropathy" "Rare peripheral neuropathy." "True" "true" + "obsolete rare peripheral neuropathy" "OBSOLETE. Rare peripheral neuropathy." "True" "true" "obsolete neurodegenerative disease with dementia" "" "true" + "obsolete frontotemporal degeneration with dementia" "" "true" "obsolete early-onset ataxia with dementia" "" "true" "obsolete late-onset ataxia with dementia" "" "true" + "obsolete metabolic disease with dementia" "" "true" "obsolete rare eye disease due to a differentiation anomaly" "True" "true" "obsolete obsolete rare palpebral, lacrimal system and conjunctival disease" "" "true" - "obsolete rare palpebral disease" "Any of the forms of eyelid disease that have a rare incidence." "" "true" + "obsolete rare palpebral disease" "OBSOLETE. Any of the forms of eyelid disease that have a rare incidence." "" "true" "obsolete rare eyelid malformation" "True" "true" "epicanthal fold" "" "obsolete telecanthus" "" "true" @@ -21332,22 +21321,25 @@ "neurogenic palpebral tumor" "" "obsolete rare eyebrow/eyelashes anomaly" "" "true" "obsolete eyelashes hypertrophy" "" "true" - "obsolete rare lacrimal system disease" "Any of the forms of lacrimal apparatus disease that have a rare incidence." "True" "true" + "obsolete rare lacrimal system disease" "OBSOLETE. Any of the forms of lacrimal apparatus disease that have a rare incidence." "True" "true" "secretory apparatus of the lacrimal system anomaly" "" "anomaly of the secretory and excretory apparatus of the lacrimal system" "" - "obsolete rare conjunctival disease" "Rare conjunctival disease." "" "true" + "obsolete rare conjunctival disease" "OBSOLETE. Rare conjunctival disease." "" "true" "obsolete conjunctival vascular anomaly" "" "true" "obsolete conjunctival hemangioma or hemolymphangioma" "" "true" "obsolete conjunctival telangiectasia" "" "true" "obsolete conjunctival lymphangiectasia" "" "true" "obsolete rare refraction anomaly" "True" "true" - "obsolete rare isolated myopia" "Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness." "True" "true" + "obsolete rare isolated myopia" "OBSOLETE. Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness." "True" "true" "obsolete rare hyperopia and astigmatism" "True" "true" - "secondary dysgenetic glaucoma associated with neural crest cell migration anomaly" "True" + "obsolete secondary dysgenetic glaucoma associated with neural crest cell migration anomaly" "" "true" "obsolete rare disease with glaucoma as a major feature" "True" "true" "obsolete lens and zonula anomaly" "True" "true" - "obsolete rare cataract" "Rare cataract." "True" "true" + "obsolete rare cataract" "OBSOLETE. Rare cataract." "True" "true" "obsolete systemic disease with cataract" "" "true" + "obsolete renal disease with cataract" "" "true" + "obsolete cardiac disease with cataract" "" "true" + "obsolete dentocutaneous disease with cataract" "" "true" "obsolete color-vision disease" "" "true" "obsolete unclassified familial retinal dystrophy" "" "true" "obsolete colobomatous and areolar dystrophy" "" "true" @@ -21356,18 +21348,24 @@ "obsolete craniostenosis associated with a strabismus" "" "true" "obsolete oculomotor palsy" "" "true" "obsolete oculomotor apraxia or related oculomotor disease" "" "true" + "obsolete myopathy with eye involvement" "" "true" "obsolete neurological disease with abnormal eye movements" "" "true" "obsolete nervous system anomaly with eye involvement" "" "true" "obsolete spinocerebellar ataxia with oculomotor anomaly" "" "true" "obsolete spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly" "" "true" - "mitochondrial disease with eye involvement" "True" - "metabolic disease associated with ocular features" "True" + "obsolete mitochondrial disease with eye involvement" "" "true" + "obsolete genetic keratinization disorder associated with ocular features" "" "true" "obsolete ichthyosis associated with ocular features" "" "true" - "obsolete syndromic ichthyosis associated with ocular features" "A ichthyosis associated with ocular features that is part of a larger syndrome." "" "true" - "pigmentation disorder with eye involvement" "True" + "obsolete syndromic ichthyosis associated with ocular features" "OBSOLETE. A ichthyosis associated with ocular features that is part of a larger syndrome." "" "true" + "obsolete pigmentation disorder with eye involvement" "" "true" "obsolete phakomatosis with eye involvement" "" "true" "obsolete connective tissue disease with eye involvement" "" "true" + "obsolete disease with potential neoplastic degeneration associated with ocular features" "" "true" + "obsolete onycho-patellar syndrome with eye involvement" "" "true" "obsolete ectodermal malformation syndrome associated with ocular features" "" "true" + "obsolete metabolic disease associated with ocular features" "" "true" + "obsolete metabolic disease with corneal opacity" "" "true" + "obsolete metabolic disease with macular cherry-red spot" "" "true" "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15" "" "obsolete spinocerebellar ataxia type 15/16" "" "true" "Angelman syndrome due to maternal 15q11q13 deletion" "" @@ -21378,10 +21376,10 @@ "benign childhood occipital epilepsy, Panayiotopoulos type" "Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases." "" "benign childhood occipital epilepsy, Gastaut type" "Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare." "" "obsolete Landau-Kleffner syndrome" "" "true" - "atypical chronic myeloid leukemia" "" + "atypical chronic myeloid leukemia" "True" "obsolete unclassified myelodysplastic/myeloproliferative disease" "" "true" "obsolete refractory anemia" "" "true" - "obsolete unclassified myelodysplastic syndrome" "Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance." "" "true" + "obsolete unclassified myelodysplastic syndrome" "OBSOLETE. Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance." "" "true" "acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)" "Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy." "" "acute myeloid leukemia with 11q23 abnormalities" "An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation." "" "" "true" @@ -21413,7 +21411,7 @@ "coloboma of eye lens" "" "coloboma of iris" "A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris." "" "coloboma of eyelid" "A congenital abnormality in which a part of the upper or lower eyelid tissue is missing." "" - "coloboma of optic disc" "Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal)." "" + "coloboma of optic disc" "Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal)." "True" "congenital symblepharon" "" "complete cryptophthalmia" "" "partial cryptophthalmia" "" @@ -21501,6 +21499,7 @@ "pleuro-pericardial cyst" "Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur." "" "6-phosphogluconate dehydrogenase deficiency" "" "hemolytic anemia due to erythrocyte adenosine deaminase overproduction" "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected." "" + "anemia due to enzyme disorder" "Any form of anemia that results from the absence of, or the defective action of, any enzyme." "" "unstable hemoglobin disease" "" "acquired von willebrand syndrome" "Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies." "" "epiblepharon" "" @@ -21597,9 +21596,8 @@ "obsolete Brill-Zinsser disease" "" "true" "relapsing epidemic typhus" "" "complex regional pain syndrome type 2" "Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area." "" - "obsolete vitamin D deficiency" "Abnormally low level of 25-hydroxyvitamin D in the blood." "" "true" + "obsolete vitamin D deficiency" "OBSOLETE. Abnormally low level of 25-hydroxyvitamin D in the blood." "" "true" "benign uterine ligament neoplasm" "A non-metastasizing neoplasm that arises from the uterine ligament." "" - "anemia due to enzyme disorder" "Any form of anemia that results from the absence of, or the defective action of, any enzyme." "" "disorder of retroperitoneum" "A disease or disorder that involves the retroperitoneal space." "" "angiokeratoma of scrotum" "An angiokeratoma that is located on the scrotum." "" "acute pharyngitis" "An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache." "" @@ -21632,6 +21630,8 @@ "epileptic encephalopathy, infantile or early childhood, 3" "" "grade III meningioma" "A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma." "" "anaplastic meningioma" "A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields)." "" + "mendelian susceptibility to mycobacterial diseases due to a complete deficiency" "" + "mendelian susceptibility to mycobacterial diseases due to a partial deficiency" "" "superficial spreading melanoma" "A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi." "" "aneuploidy" "A chromosomal abnormality in which there is an addition or loss of chromosomes within a set." "" "autism susceptibility 1" "" @@ -21653,7 +21653,7 @@ "Löfgren syndrome" "A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain." "" "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis" "" "obsolete spastic paraplegia 5B" "" "true" - "antithrombin deficiency type 2" "" + "antithrombin deficiency type 2" "True" "obsolete susceptibility to ischemic stroke" "" "true" "sudden hearing loss disorder" "" "conductive hearing loss disorder" "Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea." "" @@ -21760,8 +21760,8 @@ "basal cell neoplasm" "A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas." "" "demyelinating disease of central nervous system" "Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system." "" "rectal medullary carcinoma" "A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis." "" - "obsolete basal cell cancer" "A neoplasm composed of basal cells that metastasizes to other anatomic sites." "" "true" - "obsolete bundle branch block" "A defect of the bundle branches or fascicles in the electrical conduction system of the heart." "" "true" + "obsolete basal cell cancer" "OBSOLETE. A neoplasm composed of basal cells that metastasizes to other anatomic sites." "" "true" + "obsolete bundle branch block" "OBSOLETE. A defect of the bundle branches or fascicles in the electrical conduction system of the heart." "" "true" "benign basal cell neoplasm" "A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites." "" "sinoatrial block" "A heart block that is initiated in the sinoatrial node." "" "ovarian sertoli-stromal cell tumor" "A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells." "" @@ -21786,7 +21786,7 @@ "anterior nasal diphtheria" "Infection of the anterior nasal structures by Corynebacterium diphtheriae." "" "pulmonary alveolar proteinosis with hypogammaglobulinemia" "" "neurodevelopmental disorder with cerebellar atrophy and with or without seizures" "" - "obsolete medullary carcinoma" "Medullary carcinoma may refer to one of several different tumors of epithelial origin. As the term 'medulla' is a generic anatomic descriptor for the mid-layer of various organ tissues, a medullary tumor usually arises from the 'mid-layer tissues' of the relevant organ." "" "true" + "obsolete medullary carcinoma" "OBSOLETE. Medullary carcinoma may refer to one of several different tumors of epithelial origin. As the term 'medulla' is a generic anatomic descriptor for the mid-layer of various organ tissues, a medullary tumor usually arises from the 'mid-layer tissues' of the relevant organ." "" "true" "pseudomembranous diphtheritic conjunctivitis" "Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae." "" "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5" "" "intellectual disability, autosomal recessive 64" "" @@ -21830,8 +21830,8 @@ "herpes zoster with dermatitis of eyelid" "A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve." "" "herpes zoster dermatitis" "Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve." "" "alopecia-intellectual disability syndrome 1" "" - "obsolete genetic neurodegenerative disease with dementia" "An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome." "" "true" - "obsolete Wilms tumor" "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." "" "true" + "obsolete genetic neurodegenerative disease with dementia" "OBSOLETE. An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome." "" "true" + "obsolete Wilms tumor" "OBSOLETE. An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." "" "true" "benign mastocytoma" "A localized mast cell neoplasm without metastatic potential." "" "obsolete hemophagocytic syndrome" "" "true" "parasympathetic paraganglioma" "A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas." "" @@ -21845,7 +21845,7 @@ "lipid-rich breast carcinoma" "An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells." "" "cranioectodermal dysplasia 1" "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene." "" "appendix L-cell glucagon-like peptide-producing neuroendocrine tumor" "A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." "" - "obsolete collagen diseases" "Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)" "" "true" + "obsolete collagen diseases" "OBSOLETE. Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)" "" "true" "alcoholic fatty liver disease" "Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated." "" "NAFLD1" "" "luminal B breast carcinoma" "A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype." "" @@ -21872,12 +21872,12 @@ "acquired xanthinuria" "Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy." "" "HTLV-2 infection" "" "obsolete hemangiopericytoma" "" "true" - "obsolete disease by subcellular system affected" "A grouping of diseases based on molecular activity, cellular process or subcellular component." "" "true" + "obsolete disease by subcellular system affected" "OBSOLETE. A grouping of diseases based on molecular activity, cellular process or subcellular component." "" "true" "obsolete disease by cellular process disrupted" "" "true" "obsolete disease by molecular activity disrupted" "" "true" "obsolete disease by cellular component affected" "" "true" "obsolete rare genetic disease" "True" "true" - "obsolete rare disease" "Any of the forms of disease that have a rare incidence." "True" "true" + "obsolete rare disease" "OBSOLETE. Any of the forms of disease that have a rare incidence." "True" "true" "" "true" "" "true" "" "true" @@ -21946,7 +21946,7 @@ "polyp of maxillary sinus" "A polyp that involves the maxillary sinus." "" "polyp of ethmoidal sinus" "A polyp that involves the ethmoid sinus." "" "polyp of vocal cord" "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice." "" - "carcinoid tumors, intestina" "True" + "obsolete carcinoid tumors, intestina" "" "true" "" "true" "hemangiopericytoma of skin" "A hemangiopericytoma that involves the zone of skin." "" "squamous cell carcinoma of lip" "A squamous cell carcinoma that involves the lip." "" @@ -22029,7 +22029,7 @@ "diffuse cutaneous mucinosis" "" "deep seated dermatophytosis" "A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars." "" "cervical aortic arch" "" - "obsolete Refsum disease" "A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy." "" "true" + "obsolete Refsum disease" "OBSOLETE. A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy." "" "true" "obsolete disorder involving pain" "" "true" "obsolete transmissible disease" "OBSOLETE A disease that can be transmitted from one organism to another, typically but not always by an infectious process." "" "true" "obsolete infectious disease of central nervous system" "" "true" @@ -22214,6 +22214,7 @@ "obsolete atrial septal defect coronary sinus" "" "true" "atrophoderma of Pierini and Pasini" "Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases." "" "autoimmune inner ear disease" "A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible." "" + "autoimmune myocarditis" "Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended." "" "BK-virus nephropathy" "" "autonomic facial cephalgia" "" "leukoplakia of gingiva" "A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis." "" @@ -22223,7 +22224,7 @@ "Bazopoulou Kyrkanidou syndrome" "" "BD syndrome" "" "Beardwell syndrome" "" - "oculo-cerebral dysplasia" "" + "oculo-cerebral dysplasia" "True" "behrens baumann dust syndrome" "" "benign angiitis of the central nervous system" "A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event." "" "benign metastasizing leiomyoma" "A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord." "" @@ -22403,11 +22404,11 @@ "cutis laxa osteoporosis" "" "cutis verticis gyrata mental deficiency" "" "cutler bass Romshe syndrome" "" - "cystic hygroma lethal cleft palate" "" - "obsolete cytokine deficiency" "A disease that has its basis in the disruption of cytokine activity." "" "true" + "cystic hygroma lethal cleft palate" "True" + "obsolete cytokine deficiency" "OBSOLETE. A disease that has its basis in the disruption of cytokine activity." "" "true" "cytokine receptor deficiency" "A disease that has its basis in the disruption of cytokine receptor activity." "" "obsolete short stature-microcephaly-heart defect syndrome" "" "true" - "daentl towsend Siegel syndrome" "" + "daentl towsend Siegel syndrome" "True" "Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia" "" "Davenport-Donlan syndrome" "An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder." "" "Davis Lafer syndrome" "" @@ -22444,7 +22445,7 @@ "primary polydipsia" "A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink." "" "distal arthrogryposis Moore weaver type" "" "distichiasis heart congenital anomalies" "" - "dobrow syndrome" "" + "dobrow syndrome" "True" "double discordia" "" "double fingernail of fifth finger" "" "double uterus-hemivagina-renal agenesis" "" @@ -22653,7 +22654,7 @@ "Moebius axonal neuropathy hypogonadism" "" "multifocal choroiditis" "Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment." "" "melanoma associated retinopathy" "Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision." "" - "obsolete Noonan-like/multiple giant cell lesion syndrome" "Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure." "" "true" + "obsolete Noonan-like/multiple giant cell lesion syndrome" "OBSOLETE. Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure." "" "true" "WHIM syndrome" "" "Martsolf syndrome" "" "visceral neuropathy, familial" "" @@ -22667,9 +22668,9 @@ "miliaria crystallina" "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum." "" "Seckel like syndrome majoor-krakauer type" "" "transitional cell neoplasm" "" - "obsolete degenerative disorder" "A disorder characterized by the progressive loss of function and/or structure of the affected tissues." "" "true" + "obsolete degenerative disorder" "OBSOLETE. A disorder characterized by the progressive loss of function and/or structure of the affected tissues." "" "true" "ductal eccrine adenocarcinoma" "" - "obsolete pityriasis" "A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)" "" "true" + "obsolete pityriasis" "OBSOLETE. A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)" "" "true" "pityriasis lichenoides" "A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica)." "" "Minamata disease" "A neurological syndrome caused by severe mercury poisoning." "" "" "true" @@ -22688,7 +22689,7 @@ "congenital vascular malformation" "A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels." "" "obsolete disorder of bilirubin metabolism" "" "true" "obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980" "" "true" - "obsolete nutritional or metabolic disease" "A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances." "" "true" + "obsolete nutritional or metabolic disease" "OBSOLETE. A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances." "" "true" "acquired mineral metabolism disease" "An instance of mineral metabolism disease that is acquired during the lifetime of the individual." "" "internal hirudiniasis" "A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx." "" "external hirudiniasis" "The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate." "" @@ -22711,7 +22712,7 @@ "pityriasis folliculorum" "" "pityriasis streptogenes" "" "pityriasis amiantacea" "" - "pityriasis capitis" "True" + "obsolete pityriasis capitis" "" "true" "pityriasis alba" "" "pityriasis steatoides" "" "obsolete familial pityriasis rubra pilaris" "" "true" @@ -22762,7 +22763,7 @@ "tumor grade 2 or 3, general grading system" "A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated." "" "glioma susceptibility 1" "" "enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor" "A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome." "" - "obsolete disorder by anatomical region" "A broad grouping of diseases based on major body subdivisions." "" "true" + "obsolete disorder by anatomical region" "OBSOLETE. A broad grouping of diseases based on major body subdivisions." "" "true" "Adams-Oliver syndrome 1" "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene." "" "aniridia 1" "" "epilepsy, hot water, 1" "" @@ -22823,7 +22824,7 @@ "immunodeficiency-related disorder" "A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation." "" "obstetric disorder" "Disorder associated with pregnancy, childbirth, and puerperium." "" "" "true" - "obsolete hernia" "The protrusion of part of an organ or fibroadipose tissue through an abnormal opening." "" "true" + "obsolete hernia" "OBSOLETE. The protrusion of part of an organ or fibroadipose tissue through an abnormal opening." "" "true" "obsolete CD3epsilon deficiency" "" "true" "congenital muscular dystrophy with cataracts and intellectual disability" "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13." "" "dientamoebiasis" "Gastrointestinal infection with organisms of the genus dientamoeba." "" @@ -22831,7 +22832,7 @@ "bipolar depression" "The depressive stage of bipolar disorder." "" "neurotic depression" "A term used for any state of depression that is not psychotic." "" "meningitis caused by poliovirus" "" - "obsolete atrophy of lacrimal gland" "A degenerative disorder that involves the lacrimal gland." "" "true" + "obsolete atrophy of lacrimal gland" "OBSOLETE. A degenerative disorder that involves the lacrimal gland." "" "true" "defective phagocytic cell chemotaxis" "" "defective phagocytic cell opsonization" "" "pancreatic gastrinoma" "A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." "" @@ -22876,7 +22877,6 @@ "pneumonia, atypical interstitial, of cattle" "A cattle disease of uncertain cause, probably an allergic reaction." "" "rodent disease" "Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs)." "" "salmonella infections, animal" "Infections in animals with bacteria of the genus salmonella." "" - "sheep disease" "Diseases of domestic and mountain sheep of the genus Ovis." "" "swine disease" "Diseases of domestic swine and of the wild boar of the genus Sus." "" "obsolete Usher syndrome, type 2b" "" "true" "goat disease" "Diseases of the domestic or wild goat of the genus Capra." "" @@ -22953,8 +22953,8 @@ "type II hypersensitivity reaction disease" "A disease that has its basis in the disruption of type II hypersensitivity." "" "autoimmune urticaria" "An autoimmune form of urticaria (disease)." "" "livedoid vasculopathy" "Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia." "" - "obsolete shrimp allergy" "A allergic disease involving a shrimp food product." "" "true" - "obsolete aspirin allergy" "A allergic disease involving a acetylsalicylic acid." "" "true" + "obsolete shrimp allergy" "OBSOLETE. A allergic disease involving a shrimp food product." "" "true" + "obsolete aspirin allergy" "OBSOLETE. A allergic disease involving a acetylsalicylic acid." "" "true" "isocyanate induced asthma" "" "pneumonia caused by chlamydia" "An pneumonia caused by infection with Chlamydia." "" "Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1" "" @@ -23008,14 +23008,14 @@ "autosomal recessive cutis laxa type 2C" "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11." "" "congenital anomalies of kidney and urinary tract 2" "Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene." "" "amyotrophic lateral sclerosis type 23" "" - "serpinopathy with toxic serpin polymerization" "True" - "serpinopathy with loss of serpin function" "True" + "obsolete serpinopathy with toxic serpin polymerization" "" "true" + "obsolete serpinopathy with loss of serpin function" "" "true" "gastroenteric neuroendocrine neoplasm" "" "obsolete biliary atresia disorder" "" "true" "obsolete overgrowth or tall stature syndrome with skeletal involvement" "" "true" "obsolete dysostosis with brachydactyly without extraskeletal manifestations" "" "true" "obsolete dysostosis with brachydactyly with extraskeletal manifestations" "" "true" - "obsolete chemically-induced disorder" "Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides." "" "true" + "obsolete chemically-induced disorder" "OBSOLETE. Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides." "" "true" "obsolete ureteropelvic junction obstruction" "" "true" "polydactyly, postaxial, type A8" "" "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" "" @@ -23151,8 +23151,84 @@ "Aicardi-Goutieres syndrome 8" "" "Aicardi-Goutieres syndrome 9" "" "cardiomyopathy, dilated, 2E" "" + "WHIM syndrome 2" "" + "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2" "" + "Martsolf syndrome 2" "" + "combined oxidative phosphorylation deficiency 53" "" + "portal hypertension, noncirrhotic, 2" "" + "visceral neuropathy, familial, 2, autosomal recessive" "" + "congenital disorder of glycosylation, type 2v" "" + "immunodeficiency 85 and autoimmunity" "" + "spermatogenic failure 56" "" + "Charcot-Marie-Tooth disease, axonal, type 2FF" "" + "epilepsy, idiopathic generalized, susceptibility to, 18" "" + "anemia, sideroblastic, 5" "" + "congenital disorder of glycosylation, type IIw" "" + "pontocerebellar hypoplasia, type 16" "" + "spermatogenic failure 57" "" + "cone-rod dystrophy 22" "" + "immunodeficiency 86" "" + "deafness, autosomal recessive 118, with cochlear aplasia" "" + "developmental and epileptic encephalopathy 97" "" + "Joubert syndrome 39" "" + "dystonia 31" "" + "muscular dystrophy, limb-girdle, autosomal recessive 27" "" + "immunodeficiency 87 and autoimmunity" "" + "Charcot-Marie-Tooth disease, axonal, Type 2HH" "" + "Joubert syndrome 40" "" + "spermatogenic failure 58" "" + "cataract 49" "" + "Galloway-Mowat syndrome 9" "" + "developmental and epileptic encephalopathy 98" "" + "developmental and epileptic encephalopathy 99" "" + "heterotaxy, visceral, 10, autosomal, with male infertility" "" + "heterotaxy, visceral, 11, autosomal, with male infertility" "" + "Galloway-Mowat syndrome 10" "" + "hearing loss, autosomal recessive 119" "" + "spastic paraplegia 84, autosomal recessive" "" + "immunodeficiency 88" "" + "immunodeficiency 89 and autoimmunity" "" + "dystonia 32" "" + "spondylometaphyseal dysplasia, pagnamenta type" "" + "epidermolysis bullosa simplex 2A, generalized severe" "" + "oocyte maturation defect 11" "" + "immunodeficiency 91 and hyperinflammation" "" + "spermatogenic failure 59" "" + "spermatogenic failure 60" "" + "immunodeficiency 92" "" + "Loeys-Dietz syndrome 6" "" + "cholestasis, progressive familial intrahepatic, 7, with or without hearing loss" "" + "cholestasis, progressive familial intrahepatic, 8" "" + "ovarian dysgenesis 9" "" + "spermatogenic failure 61" "" + "spermatogenic failure 62" "" + "spastic paraplegia 85, autosomal recessive" "" + "dystonia 33" "" + "leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy" "" + "spermatogenic failure 63" "" + "trichothiodystrophy 8, nonphotosensitive" "" + "trichothiodystrophy 9, nonphotosensitive" "" + "agammaglobulinemia 9, autosomal recessive" "" + "spermatogenic failure 64" "" + "oocyte maturation defect 12" "" + "mucopolysaccharidosis, type 10" "" + "epidermolysis bullosa simplex 2B, generalized intermediate" "" + "epidermolysis bullosa simplex 2C, localized" "" + "immunodeficiency 93 and hypertrophic cardiomyopathy" "" + "agammaglobulinemia 10, autosomal dominant" "" + "spermatogenic failure 65" "" + "intellectual developmental disorder, autosomal recessive 73" "" + "hypogonadotropic hypogonadism 26 with or without anosmia" "" + "epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive" "" + "dystonia 34, myoclonic" "" + "combined oxidative phosphorylation deficiency 54" "" + "acromesomelic dysplasia 4" "" "Klebsiella pneumonia" "An pneumonia caused by infection with Klebsiella." "" "cystic partially differentiated nephroblastoma" "A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative." "" + "Bryant-Li-Bhoj neurodevelopmental syndrome 1" "" + "Bryant-Li-Bhoj neurodevelopmental syndrome" "" + "Bryant-Li-Bhoj neurodevelopmental syndrome 2" "" + "autoimmune glomerulonephritis" "An autoimmune form of glomerulonephritis (disease)." "" "autoimmune atherosclerosis" "An autoimmune form of atherosclerosis." "" "Trichomonas prostatitis" "Infection of the prostate gland caused by Trichomonas vaginalis." "" "Trichomonas cystitis" "An cystitis caused by infection with Trichomonas vaginalis." "" @@ -23367,7 +23443,7 @@ "epidermodysplasia verruciformis, susceptibility to, 3" "" "trichohepatoneurodevelopmental syndrome" "" "congenital anomalies of kidney and urinary tract 3" "" - "global developmental delay, lung cysts, overgrowth, and wilms tumor" "" + "global developmental delay, lung cysts, overgrowth, and wilms tumor" "True" "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations" "" "hypotrichosis 14" "" "neurodegeneration, childhood-onset, with cerebellar atrophy" "" @@ -23803,7 +23879,7 @@ "obsolete hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome" "" "true" "acquired angioedema with C1Inh deficiency" "" "monoclonal mast cell activation syndrome" "" - "immune dysregulation with inflammatory bowel disease" "True" + "obsolete immune dysregulation with inflammatory bowel disease" "" "true" "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome" "" "inflammatory bowel disease-recurrent sinopulmonary infections syndrome" "" "RELA fusion-positive ependymoma" "" @@ -23861,7 +23937,7 @@ "retinitis pigmentosa 81" "" "short-rib thoracic dysplasia 18 with polydactyly" "" "Charcot-Marie-Tooth disease, dominant intermediate G" "" - "obsolete rare childhood malignant neoplasm" "An infrequent malignant neoplasm that occurs during childhood." "True" "true" + "obsolete rare childhood malignant neoplasm" "OBSOLETE. An infrequent malignant neoplasm that occurs during childhood." "True" "true" "axillary neoplasm" "A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes." "" "benign ovarian mucinous tumor" "A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." "" "punctate acrokeratoderma freckle-like pigmentation" "" @@ -23882,7 +23958,7 @@ "orbital dermoid cyst" "A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative." "" "Campylobacter fetus infectious disease" "" "latent tuberculosis infection" "Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives." "" - "obsolete vascular headache" "An outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS)." "" "true" + "obsolete vascular headache" "OBSOLETE. An outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS)." "" "true" "psychogenic polydipsia" "A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders." "" "non-psychogenic polydipsia" "A form of primary polydipsia not caused by underlying psychiatric symptoms." "" "latent early syphilis" "" @@ -23947,7 +24023,7 @@ "macrogyria, pseudobulbar palsy and intellectual disability" "" "sacrococcygeal teratoma" "A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns." "" "Say-Carpenter syndrome" "" - "Schaap-Taylor-Baraitser syndrome" "" + "Schaap-Taylor-Baraitser syndrome" "True" "Schwartz-Cohen-addad-Lambert syndrome" "" "Schlegelberger-Grote syndrome" "" "Schrander-stumpel-Theunissen-Hulsmans syndrome" "" @@ -24084,7 +24160,7 @@ "infantile diarrhea" "Diarrhea occurring in infants from newborn to 24-months old." "" "endarteritis" "Inflammation of the arterial intima." "" "femoral neck fracture" "Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." "" - "obsolete pathologic fracture" "A traumatic break in an area of bone that has been weakened by another disease process." "" "true" + "obsolete pathologic fracture" "OBSOLETE. A traumatic break in an area of bone that has been weakened by another disease process." "" "true" "herpes labialis" "A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region." "" "Leriche syndrome" "An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention." "" "Monteggia's fracture" "Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." "" @@ -24101,7 +24177,7 @@ "tuberculosis, spinal" "Tuberculosis of the vertebrae." "" "voice disorders" "A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis." "" "tumor lysis syndrome" "A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death." "" - "obsolete acute eosinophilic leukemia" "A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001)" "" "true" + "obsolete acute eosinophilic leukemia" "OBSOLETE. A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001)" "" "true" "prosthesis-related infectious disease" "A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread." "" "ankle injury" "Harm or hurt to the ankle or ankle joint usually inflicted by an external source." "" "leishmaniasis, diffuse cutaneous" "A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." "" @@ -24142,7 +24218,7 @@ "obsolete artichoke, modification of taste by" "" "true" "obsolete asparagus, specific smell hypersensitivity" "" "true" "obsolete beeturia" "" "true" - "obsolete blood group, duffy system" "The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)})." "" "true" + "obsolete blood group, duffy system" "OBSOLETE. The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)})." "" "true" "obsolete blood group, 1 system" "" "true" "obsolete blood group--lutheran inhibitor" "" "true" "obsolete blood group, p1pk system" "" "true" @@ -24151,7 +24227,7 @@ "obsolete creatine kinase, brain type, ectopic expression of" "" "true" "obsolete defective interfering particle induction, control of" "" "true" "obsolete dimples, facial" "" "true" - "obsolete eegbqtl" "Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002})." "" "true" + "obsolete eegbqtl" "OBSOLETE. Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002})." "" "true" "obsolete epiblepharon of lower 51d" "" "true" "obsolete epiblepharon of upper 51d" "" "true" "obsolete eyebrow, whorl 1n" "" "true" @@ -24159,55 +24235,55 @@ "obsolete hair whorl" "" "true" "obsolete hrm2" "" "true" "obsolete hsr" "" "true" - "obsolete hepatitis b vaccine, response to" "More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010})." "" "true" + "obsolete hepatitis b vaccine, response to" "OBSOLETE. More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010})." "" "true" "obsolete hypercholesterolemia suppressor" "" "true" "obsolete lunulae of fingernails" "" "true" "obsolete median-ulnar nerve communications" "" "true" - "obsolete musical perfect pitch" "Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009})." "" "true" + "obsolete musical perfect pitch" "OBSOLETE. Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009})." "" "true" "obsolete mydriatic response to pharmacologic agents" "" "true" "obsolete mydriasis, congenital" "" "true" "obsolete nail high-sulfur protein" "" "true" "obsolete nail low-sulfur protein" "" "true" "obsolete nailbeds, pigmentation of" "" "true" - "obsolete nystagmus, voluntary" "Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976})." "" "true" + "obsolete nystagmus, voluntary" "OBSOLETE. Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976})." "" "true" "obsolete palmomental reflex" "" "true" - "obsolete thiourea tasting" "The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995})." "" "true" + "obsolete thiourea tasting" "OBSOLETE. The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995})." "" "true" "obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1" "" "true" "obsolete tongue curling, folding, or rolling" "" "true" "obsolete australia antigen" "" "true" "obsolete skin/hair/eye pigmentation, variation in, 6" "" "true" "obsolete dermatoglyphics--palmar triradius d, absence of" "" "true" "obsolete dermatoglyphics--hypothenar radial arch" "" "true" - "obsolete skin/hair/eye pigmentation, variation in, 1" "Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501)." "" "true" + "obsolete skin/hair/eye pigmentation, variation in, 1" "OBSOLETE. Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501)." "" "true" "obsolete skin/hair/eye pigmentation, variation in, 5" "" "true" - "obsolete lutheran null" "Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported." "" "true" + "obsolete lutheran null" "OBSOLETE. Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported." "" "true" "obsolete methane production" "" "true" - "obsolete skin/hair/eye pigmentation, variation in, 2" "Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action." "" "true" + "obsolete skin/hair/eye pigmentation, variation in, 2" "OBSOLETE. Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action." "" "true" "obsolete ec1" "" "true" "obsolete menoq1" "" "true" "obsolete cyanide, inability to smell" "" "true" - "obsolete lutheran suppressor, x-linked" "An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420." "" "true" + "obsolete lutheran suppressor, x-linked" "OBSOLETE. An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420." "" "true" "obsolete radial loop, plain, on right index finger" "" "true" "obsolete tooth size" "" "true" - "obsolete xm system" "Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage." "" "true" + "obsolete xm system" "OBSOLETE. Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage." "" "true" "obsolete gcy" "" "true" "obsolete transsexuality" "" "true" - "obsolete novelty seeking personality trait" "Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related." "" "true" + "obsolete novelty seeking personality trait" "OBSOLETE. Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related." "" "true" "obsolete bilirubin, serum level of, quantitative trait locus 1" "" "true" "obsolete bone mineral density quantitative trait locus 1" "" "true" "obsolete body mass index quantitative trait locus 9" "" "true" "obsolete hypertension, diastolic, resistance to" "" "true" - "obsolete hemoglobin, high altitude adaptation" "Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014})." "" "true" + "obsolete hemoglobin, high altitude adaptation" "OBSOLETE. Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014})." "" "true" "obsolete carotid intimal medial thickness 1" "" "true" "obsolete skin/hair/eye pigmentation, variation in, 11" "" "true" "obsolete uric acid concentration, serum, quantitative trait locus 4" "" "true" - "obsolete short sleeper" "In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset." "" "true" + "obsolete short sleeper" "OBSOLETE. In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset." "" "true" "obsolete bone mineral density quantitative trait locus 15" "" "true" "obsolete glycerol quantitative trait locus" "" "true" - "obsolete c3hex, ability to smell" "Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010})." "" "true" - "obsolete blood group, vel system" "The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013})." "" "true" + "obsolete c3hex, ability to smell" "OBSOLETE. Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010})." "" "true" + "obsolete blood group, vel system" "OBSOLETE. The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013})." "" "true" "obsolete body mass index quantitative trait locus 18" "" "true" - "obsolete blood group, gerbich system" "The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010})." "" "true" + "obsolete blood group, gerbich system" "OBSOLETE. The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010})." "" "true" "myasthenic syndrome, congenital, 22" "" "aortic aneurysm, familial thoracic 11, susceptibility to" "" "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder" "" @@ -24248,7 +24324,7 @@ "Schistosoma japonicum infectious disease" "An infection that is caused by Schistosoma japonicum." "" "hyperparathyroidism, primary, caused by water clear cell hyperplasia" "" "Schistosoma intercalatum infectious disease" "An disease or disorder caused by infection with Schistosoma intercalatum." "" - "Rosai-Dorfman disease" "Rosai-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia." "" + "Rosai-Dorfman disease" "Rosai-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia." "True" "isolated sternocostoclavicular hyperostosis" "Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases." "" "arthrogryposis-ectodermal dysplasia-other anomalies syndrome" "" "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome" "" @@ -24291,7 +24367,7 @@ "obsolete short rib-polydactyly syndrome type 5" "" "true" "MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome" "" "limbic encephalitis with neurexin-3 antibodies" "" - "tuberculous meningitis" "" + "tuberculous meningitis" "True" "chronic relapsing inflammatory optic neuropathy" "" "isolated optic neuritis" "" "recurrent idiopathic neuroretinitis" "" @@ -24389,7 +24465,7 @@ "obsolete sucrose intolerance disease" "" "true" "acquired adrenogenital syndrome" "An instance of adrenogenital syndrome that is acquired during the lifetime of the individual." "" "" "true" - "obsolete radiation or chemically induced disorder" "A disease or disorder that is induced by either chemical or radiation exposure." "" "true" + "obsolete radiation or chemically induced disorder" "OBSOLETE. A disease or disorder that is induced by either chemical or radiation exposure." "" "true" "obsolete Deuteromycetes infectious disease" "" "true" "obsolete infectious diarrheal disease" "" "true" "infectious disease characteristic" "" @@ -24515,7 +24591,7 @@ "rectal adenosquamous carcinoma" "An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." "" "skin adenosquamous carcinoma" "An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components." "" "nasal cavity and paranasal sinus neoplasm" "A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." "" - "bronchiolitis obliterans organizing pneumonia" "Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications." "" + "bronchiolitis obliterans organizing pneumonia" "Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications." "True" "amyotonia congenita" "" "X-linked congenital hemolytic anemia" "" "cerebral sclerosis, diffuse, scholz type" "" @@ -24670,7 +24746,7 @@ "fetal akinesia deformation sequence 3" "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene." "" "fetal akinesia deformation sequence 4" "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene." "" "brain small vessel disease 3" "An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration." "" - "obsolete neonatal epileptic encephalopathy" "A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death." "" "true" + "obsolete neonatal epileptic encephalopathy" "OBSOLETE. A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death." "" "true" "non-neonatal early infantile epileptic encephalopathy" "Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death." "" "Zinner syndrome" "A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction." "" "adenovirus renal infection" "" @@ -24688,13 +24764,13 @@ "mitochondrial complex I deficiency" "A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene." "" "obsolete Fanconia anemia complementation group M" "OBSOLETE Any Fanconi anemia in which the cause of the disease is a mutation in the FANCM gene." "" "true" "X-linked recessive mitochondrial myopathy" "A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features." "" - "obsolete asymptomatic COVID-19 infection" "A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease." "" "true" - "obsolete mild COVID-19 infection" "A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging." "" "true" - "obsolete moderate COVID-19 infection" "A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level." "" "true" - "obsolete severe COVID-19 infection" "A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%." "" "true" - "obsolete critical COVID-19 infection" "A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction." "" "true" + "obsolete asymptomatic COVID-19 infection" "OBSOLETE. A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease." "" "true" + "obsolete mild COVID-19 infection" "OBSOLETE. A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging." "" "true" + "obsolete moderate COVID-19 infection" "OBSOLETE. A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level." "" "true" + "obsolete severe COVID-19 infection" "OBSOLETE. A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%." "" "true" + "obsolete critical COVID-19 infection" "OBSOLETE. A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction." "" "true" "Uner Tan Syndrome" "A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations." "" - "obsolete presymptomatic COVID-19 infection" "A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms when they first test positive, but develop symptoms later on." "" "true" + "obsolete presymptomatic COVID-19 infection" "OBSOLETE. A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms when they first test positive, but develop symptoms later on." "" "true" "Imerslund-Grasbeck syndrome type 1" "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances." "" "Imerslund-Grasbeck syndrome type 2" "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF)." "" "alcoholic ketoacidosis" "An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae." "" @@ -24722,7 +24798,7 @@ "A20 haploinsufficiency" "Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene." "" "mitochondrial complex I deficiency, nuclear type 1" "" "parasomnia, sleepwalking type" "A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%)." "" - "obsolete Heimler syndrome" "A peroxisoome biogenesis disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes." "" "true" + "obsolete Heimler syndrome" "OBSOLETE. A peroxisoome biogenesis disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes." "" "true" "fatty acyl-CoA reductase 1 dysregulation" "A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids." "" "psoriatic arthritis, susceptibility to, 1" "A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement." "" "psoriatic arthritis, susceptibility to" "An inherited susceptibility or predisposition to developing psoriatic arthritis." "" @@ -24836,7 +24912,7 @@ "glycogen storage disease IXa2" "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes." "" "neonatal encephalopathy with non-epileptic myoclonus" "A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay." "" "achalasia, familial esophageal" "An instance of achalsia that is caused by an inherited genomic modification in an individual." "" - "gastrointestinal defects and immunodeficiency syndrome" "A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood." "" + "gastrointestinal defects and immunodeficiency syndrome" "A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood." "True" "short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans" "A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." "" "butterfly-shaped pigment dystrophy" "A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age." "" "preeclampsia/eclampsia 1" "" @@ -24852,6 +24928,7 @@ "active tuberculosis" "Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease." "" "extensively drug-resistant tuberculosis" "A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid." "" "totally drug-resistant tuberculosis" "A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin)." "" + "adult acne" "Acne that occurs in an adult." "" "uterine ligament adenosarcoma" "An extremely rare adenosarcoma that arises from the uterine ligament." "" "obsolete chromate resistance" "" "true" "SSR3-CDG" "A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure." "" @@ -24893,6 +24970,10 @@ "mosaic trisomy 13" "Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism." "" "monosomy chromosome 8" "A chromosomal disorder consisting of the absence of one chromosome 8." "" "testicular fibrothecoma" "A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma." "" + "TDP-43 proteinopathy" "Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease." "" + "bladder exstrophy-epispadias-cloacal extrophy complex" "An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia." "" + "neonatal jaundice due to ABO incompatibility" "Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility." "" + "neuroblastoma, susceptibility to, 2" "" "leukemia, acute, X-linked" "X-linked form of acute leukemia" "" "mosaic vs complete" "A disease characteristic in which the cause of the disease is present in some of the cells of the organism, or in all the cells of the organism." "" "myopathy caused by variation in POMGNT2" "Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene." "" diff --git a/src/ontology/reports/mondo_obsoletioncandidates.tsv b/src/ontology/reports/mondo_obsoletioncandidates.tsv index ad4900cb02..ec3b29de23 100644 --- a/src/ontology/reports/mondo_obsoletioncandidates.tsv +++ b/src/ontology/reports/mondo_obsoletioncandidates.tsv @@ -1,52 +1,67 @@ mondo_id label comment issue obsoletion_date +MONDO:0003804 "blood protein disease" "Reason: out of scope specific to autosomal disorder. Term to consider: none." "https://github.com/monarch-initiative/mondo/issues/4624" "2022-06-01" MONDO:0004553 "extrinsic allergic alveolitis" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4323" "2022-05-01" MONDO:0004771 "Fuchs' heterochromic uveitis" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4223" "2022-05-01" +MONDO:0004955 "metabolic syndrome" "Reason: duplicate. This will be merged with MONDO:0000816" "https://github.com/monarch-initiative/mondo/issues/4425" "2022-06-01" +MONDO:0005042 "head disorder" "Reason: grouping class specific to autosomal disorder. Term to consider: none." "https://github.com/monarch-initiative/mondo/issues/4621" "2022-06-01" MONDO:0005992 "trichinosis" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4225" "2022-05-01" MONDO:0006147 "chronic eosinophilic leukemia, not otherwise specified" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4291" "2022-05-01" MONDO:0006584 "neonatal jaundice" "Reason: is a phenotype and not a disease. Term to consider: neonatal jaundice due to ABO incompatibility" "https://github.com/monarch-initiative/mondo/issues/4480" "2022-05-01" MONDO:0006600 "pigmentation disease" "Reason: grouping class. Term to consider: none. This class covers pigmentation disorders of the skin, as well as those affecting the eyes." "https://github.com/monarch-initiative/mondo/issues/4111|https://github.com/monarch-initiative/mondo/issues/4480" "2022-05-01" MONDO:0007061 "acylase, cobalt-activated" "Reason: out of scope. Term to consider: none" "https://github.com/monarch-initiative/mondo/issues/4422" "2022-05-01" -MONDO:0007780 "hypertelorism, Teebi type" "This will be split into the generic term and a more specific subtype in the 2022-05-01 release. The new ID for the generic term will be MONDO:0030639. MONDO:800025 Teebi hypertelorism syndrome 1 will be added as the more specific subclass." "https://github.com/monarch-initiative/mondo/issues/4500" "2022-05-01" -MONDO:0007810 "autosomal dominant ichthyosis vulgaris" "Reason: duplicate. This will be merged with MONDO_0007810 autosomal dominant ichthyosis vulgaris" "https://github.com/monarch-initiative/mondo/issues/4293" "2022-04-01" +MONDO:0007780 "hypertelorism, Teebi type" "This will be split into the generic term and a more specific subtype in the 2022-05-01 release. The new ID for the generic term will be MONDO:0030639. MONDO:800025 Teebi hypertelorism syndrome 1 will be added as the more specific subclass." "https://github.com/monarch-initiative/mondo/issues/4521|https://github.com/monarch-initiative/mondo/issues/4500" "2022-05-01" +MONDO:0007810 "autosomal dominant ichthyosis vulgaris" "Reason: duplicate. This will be merged with MONDO_0007810 autosomal dominant ichthyosis vulgaris" "https://github.com/monarch-initiative/mondo/issues/4293" "2022-05-01" MONDO:0008042 "myoclonus and ataxia" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4429" "2022-05-01" -MONDO:0008345 "idiopathic pulmonary fibrosis" "This will be split into the generic term and a more specific subtype in the 2022-05-01 release. The new ID for the generic term will be MONDO:0031199. MONDO:800029 interstitial lung disease 2 will be added as the more specific subclass." "https://github.com/monarch-initiative/mondo/issues/4508|https://rarediseases.info.nih.gov/diseases/8609/idiopathic-pulmonary-fibrosis" "2022-05-01" -MONDO:0008852 "congenital central hypoventilation syndrome" "This will be split into the generic term and a more specific subtype in the 2022-05-01 release. The new ID for the generic term will be MONDO:0030767. MONDO:800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease will be added as the more specific subclass." "https://github.com/monarch-initiative/mondo/issues/4501|https://github.com/monarch-initiative/mondo/issues/4069|https://rarediseases.info.nih.gov/diseases/8535/congenital-central-hypoventilation-syndrome" "2022-05-01" -MONDO:0008856 "immunodeficiency 27A" "Reason: duplicate. This will be merged with MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "https://github.com/monarch-initiative/mondo/issues/4472" "2022-05-01" +MONDO:0008345 "idiopathic pulmonary fibrosis" "This will be split into the generic term and a more specific subtype in the 2022-05-01 release. The new ID for the generic term will be MONDO:0031199. MONDO:800029 interstitial lung disease 2 will be added as the more specific subclass." "https://github.com/monarch-initiative/mondo/issues/4521|https://github.com/monarch-initiative/mondo/issues/4508|https://rarediseases.info.nih.gov/diseases/8609/idiopathic-pulmonary-fibrosis" "2022-05-01" +MONDO:0008852 "congenital central hypoventilation syndrome" "This will be split into the generic term and a more specific subtype in the 2022-05-01 release. The new ID for the generic term will be MONDO:0030767. MONDO:800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease will be added as the more specific subclass." "https://github.com/monarch-initiative/mondo/issues/4501|https://github.com/monarch-initiative/mondo/issues/4521|https://github.com/monarch-initiative/mondo/issues/4069|https://rarediseases.info.nih.gov/diseases/8535/congenital-central-hypoventilation-syndrome" "2022-05-01" +MONDO:0008856 "immunodeficiency 27A" "Reason: duplicate. This will be merged with MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "https://github.com/monarch-initiative/mondo/issues/4472|https://github.com/monarch-initiative/mondo/issues/4521" "2022-05-01" MONDO:0008940 "endosteal sclerosis-cerebellar hypoplasia syndrome" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4516" "2022-05-01" MONDO:0008942 "cerebelloparenchymal disorder II" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4444" "2022-05-01" -MONDO:0009096 "hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia" "This will be split into the generic term and a more specific subtype in the 2022-05-01 release. The new ID for the generic term will be MONDO:0030796. MONDO:800027 Leukoencephalopathy, diffuse hereditary, with spheroids 1 will be added as the more specific subclass." "https://github.com/monarch-initiative/mondo/issues/4502" "2022-05-01" +MONDO:0009096 "hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia" "This will be split into the generic term and a more specific subtype in the 2022-05-01 release. The new ID for the generic term will be MONDO:0030796. MONDO:800027 Leukoencephalopathy, diffuse hereditary, with spheroids 1 will be added as the more specific subclass." "https://github.com/monarch-initiative/mondo/issues/4521|https://github.com/monarch-initiative/mondo/issues/4502" "2022-05-01" MONDO:0009316 "hair defect-photosensitivity-intellectual disability syndrome" "Reason: duplicate. This will be merged with MONDO:0022316" "https://github.com/monarch-initiative/mondo/issues/4390" "2022-05-01" MONDO:0010113 "thalidomide susceptibility" "Reason: out of scope. Term to consider: None" "https://github.com/monarch-initiative/mondo/issues/4363" "2022-05-01" MONDO:0010783 "Alzheimer disease, susceptibility to, mitochondrial" "Reason: out of scope. Term to consider: Alzheimer disease'" "https://github.com/monarch-initiative/mondo/issues/4363" "2022-05-01" MONDO:0011111 "horns in sheep" "Reason: out of scope. Term to consider: none" "https://github.com/monarch-initiative/mondo/issues/4424" "2022-05-01" MONDO:0011319 "activator of liver function 1" "Reason: out of scope. Term to consider: none" "https://github.com/monarch-initiative/mondo/issues/4503" "2022-05-01" -MONDO:0011707 "familial dyskinesia and facial myokymia" "This will be split into the generic term and a more specific subtype in the 2022-05-01 release. The new ID for the generic term will be MONDO:0031115. MONDO:800028 familial dyskinesia and facial myokymia will be added as the more specific subclass." "https://github.com/monarch-initiative/mondo/issues/4507" "2022-05-01" +MONDO:0011707 "familial dyskinesia and facial myokymia" "This will be split into the generic term and a more specific subtype in the 2022-05-01 release. The new ID for the generic term will be MONDO:0031115. MONDO:800028 familial dyskinesia and facial myokymia will be added as the more specific subclass." "https://github.com/monarch-initiative/mondo/issues/4521|https://github.com/monarch-initiative/mondo/issues/4507" "2022-05-01" MONDO:0013733 "accelerated tumor formation, susceptibility to" "Reason: out of scope. Term to consider: None" "https://github.com/monarch-initiative/mondo/issues/4363" "2022-05-01" -MONDO:0014253 "autoimmune lymphoproliferative syndrome type 3" "This will be obsoleted in the 2022-04-01 release. The term will be split and the new IDs for this term will be MONDO:800023 (Type 3 Autoimmune Lymphoproliferative Syndrome) and MONDO:800024 (autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD)." "https://github.com/monarch-initiative/mondo/issues/4098" "2022-04-01" +MONDO:0014129 "autosomal recessive limb-girdle muscular dystrophy type 2R" "Reason: duplicate. These terms were merged in DO and OMIM.This will be merged with MONDO:0011076" "https://github.com/monarch-initiative/mondo/issues/4370" "2022-06-01" MONDO:0014616 "Skint1-like pseudogene" "Reason: out of scope. Term to consider: none" "https://github.com/monarch-initiative/mondo/issues/4504" "2022-05-01" MONDO:0015551 "basal epidermolysis bullosa simplex" "Reason: out of scope. Term to consider: epidermolysis bullosa simplex" "https://github.com/monarch-initiative/mondo/issues/4499" "2022-05-01" +MONDO:0015879 "non-syndromic diaphragmatic or thoracic malformation" "Reason: out of scope. Orphanet grouping class. Term to consider: thoracic malformation' or 'diaphragm disorder'" "https://github.com/monarch-initiative/mondo/issues/4648" "2022-06-01" +MONDO:0015880 "syndromic diaphragmatic or thoracic malformation" "Reason: out of scope. Orphanet grouping class. Term to consider: thoracic malformation' or 'diaphragm disorder'" "https://github.com/monarch-initiative/mondo/issues/4648" "2022-06-01" MONDO:0016036 "Ledderhose disease" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://rarediseases.info.nih.gov/diseases/6873/ledderhose-disease|https://github.com/monarch-initiative/mondo/issues/4451" "2022-05-01" MONDO:0016626 "hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency" "Reason: out of scope. Obsoleted in Orphanet. Term to consider: None" "https://github.com/monarch-initiative/mondo/issues/4398" "2022-05-01" +MONDO:0018138 "ocular albinism with congenital sensorineural hearing loss" "Reason: out of scope. Obsoleted in OMIM and Orphanet. Term to consider: Waardenburg syndrome type 2A' or 'oculocutaneous albinism type 1B'" "https://github.com/monarch-initiative/mondo/issues/551|https://github.com/monarch-initiative/mondo/issues/4521|https://github.com/monarch-initiative/mondo/issues/4069|https://github.com/monarch-initiative/mondo/issues/4581" "2022-06-01" MONDO:0019341 "tuberous sclerosis complex" "Reason: duplicate. This will be merged with MONDO:0001734" "https://github.com/monarch-initiative/mondo/issues/1489" "2022-05-01" MONDO:0019511 "autosomal dominant medullary cystic kidney disease with hyperuricemia" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4444" "2022-05-01" +MONDO:0019664 "short rib-polydactyly syndrome, Verma-Naumoff type" "Reason: duplicate. This will be merged with MONDO:0013127" "https://github.com/monarch-initiative/mondo/issues/4148" "2022-06-01" MONDO:0019774 "Holmes-Gang syndrome" "Reason: out of scope. Term to consider: alpha thalassemia-X-linked intellectual disability syndrome'" "https://github.com/monarch-initiative/mondo/issues/4130" "2022-05-01" +MONDO:0020051 "total autosomal trisomy" "Reason: grouping class specific to autosomal disorder. Term to consider: trisomy" "https://github.com/monarch-initiative/mondo/issues/4272" "2022-06-01" +MONDO:0020052 "partial autosomal trisomy/tetrasomy" "Reason: grouping class specific to autosomal disorder. Term to consider: syndrome caused by partial chromosomal duplication" "https://github.com/monarch-initiative/mondo/issues/4272" "2022-06-01" MONDO:0020218 "goniodysgenesis" "Reason: out of scope. Obsoleted in Orphanet. Term to consider: None" "https://github.com/monarch-initiative/mondo/issues/4397" "2022-05-01" MONDO:0020220 "corneoiridogoniodysgenesis" "Reason: out of scope. Obsoleted in Orphanet. Term to consider: None" "https://github.com/monarch-initiative/mondo/issues/4396" "2022-05-01" MONDO:0020247 "congenital vitreoretinal dysplasia" "Reason: out of scope. Term to consider: None" "https://github.com/monarch-initiative/mondo/issues/4407|https://github.com/monarch-initiative/mondo/issues/4069" "2022-05-01" MONDO:0020248 "vitreoretinal degeneration" "Reason: out of scope. Term to consider: inherited vitreoretinopathy" "https://rarediseases.info.nih.gov/diseases/5506/vitreoretinal-degeneration|https://github.com/monarch-initiative/mondo/issues/4407" "2022-05-01" MONDO:0020312 "atypical chronic myeloid leukemia" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4487" "2022-05-01" MONDO:0020358 "coloboma of optic disc" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4364" "2022-05-01" +MONDO:0020591 "disorder of peritoneum" "Reason: grouping class specific to autosomal disorder. Term to consider: none." "https://github.com/monarch-initiative/mondo/issues/4621" "2022-06-01" +MONDO:0020595 "disorder of retroperitoneum" "Reason: grouping class specific to autosomal disorder. Term to consider: none." "https://github.com/monarch-initiative/mondo/issues/4621" "2022-06-01" MONDO:0020670 "antithrombin deficiency type 2" "Reason: out of scope. Term to consider: heparin cofactor 2 deficiency" "https://github.com/monarch-initiative/mondo/issues/4476" "2022-05-01" +MONDO:0021016 "channelopathy" "Reason: out of scope specific to autosomal disorder. Term to consider: none." "https://github.com/monarch-initiative/mondo/issues/4116" "2022-06-01" MONDO:0021191 "malignant ependymoma" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4450" "2022-05-01" MONDO:0022556 "oculo-cerebral dysplasia" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://rarediseases.info.nih.gov/diseases/4021/oculo-cerebral-dysplasia|https://github.com/monarch-initiative/mondo/issues/4251" "2022-05-01" MONDO:0022916 "cystic hygroma lethal cleft palate" "Reason: out of scope. Term to consider:" "https://github.com/monarch-initiative/mondo/issues/4340|https://rarediseases.info.nih.gov/diseases/1653/cystic-hygroma-lethal-cleft-palate" "2022-05-01" MONDO:0022926 "daentl towsend Siegel syndrome" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://rarediseases.info.nih.gov/diseases/236/daentl-towsend-siegel-syndrome|https://github.com/monarch-initiative/mondo/issues/4328" "2022-05-01" MONDO:0023000 "dobrow syndrome" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://rarediseases.info.nih.gov/diseases/1895/dobrow-syndrome|https://github.com/monarch-initiative/mondo/issues/4453" "2022-05-01" -MONDO:0032647 "global developmental delay, lung cysts, overgrowth, and wilms tumor" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4224" "2022-05-01" +MONDO:0032647 "global developmental delay, lung cysts, overgrowth, and wilms tumor" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4224|https://github.com/monarch-initiative/mondo/issues/4521" "2022-05-01" MONDO:0035370 "ALPI-related inflammatory bowel disease" "Reason: out of scope. Term to consider: MONDO:0005265 'inflammatory bowel disease'." "https://github.com/monarch-initiative/mondo/issues/3543" "2022-12-01" MONDO:0042908 "Schaap-Taylor-Baraitser syndrome" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4324" "2022-05-01" +MONDO:0043707 "mediastinal disorder" "Reason: grouping class specific to autosomal disorder. Term to consider: none." "https://github.com/monarch-initiative/mondo/issues/4621" "2022-06-01" MONDO:0044354 "Rosai-Dorfman disease" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4236" "2022-05-01" MONDO:0044684 "tuberculous meningitis" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4239" "2022-05-01" +MONDO:0044989 "foot disorder" "Reason: grouping class specific to autosomal disorder. Term to consider: none." "https://github.com/monarch-initiative/mondo/issues/4621" "2022-06-01" +MONDO:0044990 "hand disorder" "Reason: grouping class specific to autosomal disorder. Term to consider: none." "https://github.com/monarch-initiative/mondo/issues/4621" "2022-06-01" MONDO:0056821 "bronchiolitis obliterans organizing pneumonia" "Reason: duplicate. This will be merged with MONDO:0007354 coloboma of optic nerve" "https://github.com/monarch-initiative/mondo/issues/4417" "2022-05-01" MONDO:0100243 "inherited paroxysmal nocturnal hemoglobinuria" "Reason: duplicate. This will be merged with MONDO:0100244 paroxysmal nocturnal hemoglobinuria. 'paroxysmal nocturnal hemoglobinuria' appears to always be acquired. We therefore do not need to make the distinction between 'acquired' and 'inherited'." "https://github.com/monarch-initiative/mondo/issues/4232" "2022-05-01" MONDO:0100245 "acquired paroxysmal nocturnal hemoglobinuria" "Reason: duplicate. This will be merged with MONDO:0100244 paroxysmal nocturnal hemoglobinuria. 'paroxysmal nocturnal hemoglobinuria' appears to always be acquired. We therefore do not need to make the distinction between 'acquired' and 'inherited'." "https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria|https://github.com/monarch-initiative/mondo/issues/4232" "2022-05-01" diff --git a/src/ontology/reports/mondo_release_diff_changed_terms.tsv b/src/ontology/reports/mondo_release_diff_changed_terms.tsv index e91c0f66fb..ffb45c7bdc 100644 --- a/src/ontology/reports/mondo_release_diff_changed_terms.tsv +++ b/src/ontology/reports/mondo_release_diff_changed_terms.tsv @@ -1,187 +1,47 @@ mondo_id property value_old value_new -MONDO:0019708 label primary bone dysplasia with disorganized development of skeletal components obsolete primary bone dysplasia with disorganized development of skeletal components MONDO:0000651 label thoracic disorder obsolete thoracic disorder MONDO:0003778 label primary immunodeficiency disease inborn errors of immunity -MONDO:0003127 label embryoma obsolete embryoma -MONDO:0006251 label inclusion body fibromatosis obsolete inclusion body fibromatosis MONDO:0006588 label nonepidermolytic palmoplantar keratoderma obsolete nonepidermolytic palmoplantar keratoderma -MONDO:0018627 label ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor obsolete ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor -MONDO:0006785 label Henoch-Schoenlein purpura obsolete Henoch-Schoenlein purpura -MONDO:0015501 label syndrome or malformation associated with head and neck malformations obsolete syndrome or malformation associated with head and neck malformations -MONDO:0018232 label primary bone dysplasia with micromelia obsolete primary bone dysplasia with micromelia -MONDO:0016436 label acquired dermis elastic tissue disorder with increased elastic tissue obsolete acquired dermis elastic tissue disorder with increased elastic tissue -MONDO:0007064 label adenosine deaminase deficiency severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:0007139 label Antipyrine metabolism obsolete Antipyrine metabolism MONDO:0007141 label antiviral state repressor, regulator of obsolete antiviral state repressor, regulator of -MONDO:0019700 label primary bone dysplasia with multiple joint dislocations obsolete primary bone dysplasia with multiple joint dislocations -MONDO:0015657 label inflammatory and autoimmune disease with epilepsy obsolete inflammatory and autoimmune disease with epilepsy -MONDO:0017370 label autoinflammatory syndrome with skin involvement obsolete autoinflammatory syndrome with skin involvement -MONDO:0019703 label primary bone dysplasia with increased bone density obsolete primary bone dysplasia with increased bone density -MONDO:0007219 label brachydactyly type A6 Osebold-Remondini syndrome MONDO:0007317 label chlorpropamide-alcohol flushing obsolete chlorpropamide-alcohol flushing MONDO:0007331 label cleft chin obsolete cleft chin -MONDO:0020226 label chromosomal anomaly with cataract obsolete chromosomal anomaly with cataract -MONDO:0019704 label primary bone dysplasia with decreased bone density obsolete primary bone dysplasia with decreased bone density MONDO:0007532 label Electroencephalographic peculiarity: occipital slow beta waves obsolete Electroencephalographic peculiarity: occipital slow beta waves -MONDO:0007550 label epidermolysis bullosa simplex Dowling-Meara type epidermolysis bullosa simplex 1A, generalized severe -MONDO:0007551 label localized epidermolysis bullosa simplex epidermolysis bullosa simplex 1C, localized -MONDO:0007554 label generalized epidermolysis bullosa simplex, non-Dowling-Meara type epidermolysis bullosa simplex 1B, generalized intermediate -MONDO:0007555 label epidermolysis bullosa simplex Ogna type pidermolysis bullosa simplex 5A, Ogna type -MONDO:0007556 label epidermolysis bullosa simplex with mottled pigmentation epidermolysis bullosa simplex 2F, with mottled pigmentation MONDO:0007591 label facial hypertrichosis obsolete facial hypertrichosis -MONDO:0018231 label primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments MONDO:0007622 label flood factor deficiency obsolete flood factor deficiency MONDO:0007645 label gastric sneezing obsolete gastric sneezing MONDO:0007692 label hairy ears obsolete hairy ears -MONDO:0019305 label immune deficiency with skin involvement obsolete immune deficiency with skin involvement MONDO:0007822 label incisors, long upper central obsolete incisors, long upper central MONDO:0007823 label insulin receptors, familial increase 1N obsolete insulin receptors, familial increase 1N -MONDO:0017311 label rare disease with thoracic aortic aneurysm and aortic dissection obsolete rare disease with thoracic aortic aneurysm and aortic dissection MONDO:0008068 label navicular bone, accessory obsolete navicular bone, accessory MONDO:0008110 label ocular dominance obsolete ocular dominance -MONDO:0018790 label COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy MONDO:0008326 label pseudocholinesterase, increase in plasma level of obsolete pseudocholinesterase, increase in plasma level of MONDO:0008351 label pupil, egg-shaped obsolete pupil, egg-shaped MONDO:0008405 label scapula, contour of vertebral border of obsolete scapula, contour of vertebral border of -MONDO:0015218 label syndromic developmental defect of the eye obsolete syndromic developmental defect of the eye -MONDO:0015220 label syndrome with a central nervous system malformation as major feature obsolete syndrome with a central nervous system malformation as major feature -MONDO:0019827 label disease associated with non-acquired combined pituitary hormone deficiency obsolete disease associated with non-acquired combined pituitary hormone deficiency MONDO:0008432 label ketone compounds, ability to smell obsolete ketone compounds, ability to smell -MONDO:0015651 label neurocutaneous syndrome with epilepsy obsolete neurocutaneous syndrome with epilepsy MONDO:0008548 label theophylline Biotransformation obsolete theophylline Biotransformation MONDO:0008616 label twinning due to superfetation obsolete twinning due to superfetation MONDO:0008625 label urate-binding globulin, decrease 1N obsolete urate-binding globulin, decrease 1N MONDO:0008677 label widow's peak obsolete widow's peak -MONDO:0008703 label acromesomelic dysplasia, Grebe type acromesomelic dysplasia 2A -MONDO:0008717 label acromesomelic dysplasia, Hunter-Thompson type acromesomelic dysplasia 2C, Hunter-Thompson type -MONDO:0016337 label syndrome associated with dilated cardiomyopathy obsolete syndrome associated with dilated cardiomyopathy MONDO:0008791 label isolated anencephaly/exencephaly anencephaly 1 -MONDO:0017118 label syndrome with a cerebellar malformation as major feature obsolete syndrome with a cerebellar malformation as major feature MONDO:0009125 label dopamine beta-hydroxylase, plasma, thermolability of obsolete dopamine beta-hydroxylase, plasma, thermolability of -MONDO:0009181 label epidermolysis bullosa simplex with muscular dystrophy epidermolysis bullosa simplex 5B, with muscular dystrophy -MONDO:0009231 label fibular hypoplasia and complex brachydactyly acromesomelic dysplasia 2B MONDO:0009250 label fructose utilization obsolete fructose utilization -MONDO:0017035 label secondary interstitial lung disease in childhood and adulthood associated with a systemic disease obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease -MONDO:0015329 label malformation syndrome with short stature obsolete malformation syndrome with short stature -MONDO:0019705 label primary bone dysplasia with defective bone mineralization obsolete primary bone dysplasia with defective bone mineralization MONDO:0009553 label Plasmodium falciparum blood infection level obsolete Plasmodium falciparum blood infection level -MONDO:0009741 label neuroblastoma, susceptibility to neuroblastoma, susceptibility to, 1 -MONDO:0017919 label bladder exstrophy-epispadias-cloacal exstrophy complex exstrophy-epispadias complex MONDO:0009829 label pallidal degeneration, progressive, with retinitis pigmentosa obsolete pallidal degeneration, progressive, with retinitis pigmentosa -MONDO:0015945 label polymalformative genetic syndrome with increased risk of developing cancer obsolete polymalformative genetic syndrome with increased risk of developing cancer MONDO:0009930 label pulmonary arteriovenous malformation obsolete pulmonary arteriovenous malformation -MONDO:0015336 label malformation syndrome with odontal and/or periodontal component obsolete malformation syndrome with odontal and/or periodontal component -MONDO:0017272 label autosomal ichthyosis syndrome with prominent neurologics signs obsolete autosomal ichthyosis syndrome with prominent neurologics signs -MONDO:0020228 label cataract associated with a metabolic disease obsolete cataract associated with a metabolic disease -MONDO:0020281 label metabolic disease with pigmentary retinitis obsolete metabolic disease with pigmentary retinitis -MONDO:0017432 label syndrome with limb reduction defects obsolete syndrome with limb reduction defects -MONDO:0020232 label musculoskeletal disease with cataract obsolete musculoskeletal disease with cataract -MONDO:0016399 label amino acid or protein metabolism disease with epilepsy obsolete amino acid or protein metabolism disease with epilepsy -MONDO:0016826 label methylmalonic acidemia with homocystinuria methylmalonic aciduria and homocystinuria -MONDO:0016402 label mitochondrial disease with epilepsy obsolete mitochondrial disease with epilepsy -MONDO:0016403 label mitochondrial disease with peripheral neuropathy obsolete mitochondrial disease with peripheral neuropathy -MONDO:0015920 label syndromic neurometabolic disease with X-linked intellectual disability obsolete syndromic neurometabolic disease with X-linked intellectual disability -MONDO:0016326 label lysosomal disease with hypertrophic cardiomyopathy obsolete lysosomal disease with hypertrophic cardiomyopathy -MONDO:0019301 label metabolic disease with skin involvement obsolete metabolic disease with skin involvement -MONDO:0019706 label lysosomal storage disease with skeletal involvement obsolete lysosomal storage disease with skeletal involvement MONDO:0010705 label ouabain resistance obsolete ouabain resistance -MONDO:0015188 label metabolic disorder with intestinal involvement obsolete metabolic disorder with intestinal involvement -MONDO:0015895 label syndrome with hypoparathyroidism obsolete syndrome with hypoparathyroidism -MONDO:0016792 label mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA -MONDO:0010976 label KRT14-related epidermolysis bullosa simplex epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MONDO:0010994 label micromelic dwarfism, Fryns type obsolete micromelic dwarfism, Fryns type -MONDO:0011140 label benign familial neonatal-infantile seizures obsolete benign familial neonatal-infantile seizures -MONDO:0017271 label autosomal ichthyosis syndrome with prominent hair abnormalities obsolete autosomal ichthyosis syndrome with prominent hair abnormalities -MONDO:0011275 label acromesomelic dysplasia, Maroteaux type acromesomelic dysplasia 1, Maroteaux type -MONDO:0017021 label secondary interstitial lung disease specific to childhood associated with a connective tissue disease obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease -MONDO:0015877 label malformative syndrome with dentinogenesis imperfecta obsolete malformative syndrome with dentinogenesis imperfecta MONDO:0011554 label deafness, nonsyndromic, modifier 1 obsolete deafness, nonsyndromic, modifier 1 -MONDO:0018558 label syndrome with woolly hair obsolete syndrome with woolly hair -MONDO:0018718 label vascular tumor with associated anomalies obsolete vascular tumor with associated anomalies -MONDO:0020182 label palpebral tumor with a vascular malformation obsolete palpebral tumor with a vascular malformation MONDO:0011692 label basal ganglia calcification, idiopathic, 2 obsolete basal ganglia calcification, idiopathic, 2 -MONDO:0012258 label epidermolysis bullosa simplex with circinate migratory erythema epidermolysis bullosa simplex 2E, with migratory circinate erythema -MONDO:0012274 label acromesomelic dysplasia, Demirhan type acromesomelic dysplasia 3 -MONDO:0012501 label mutagen sensitivity obsolete mutagen sensitivity -MONDO:0015659 label infectious disease with epilepsy obsolete infectious disease with epilepsy -MONDO:0019066 label syndrome with brachydactyly obsolete syndrome with brachydactyly -MONDO:0012807 label epidermolysis bullosa simplex with pyloric atresia epidermolysis bullosa simplex 5C, with pyloric atresia -MONDO:0013144 label antithrombin III deficiency hereditary antithrombin deficiency -MONDO:0015655 label cerebral malformation with epilepsy obsolete cerebral malformation with epilepsy MONDO:0013538 label alpha-2-macroglobulin deficiency obsolete alpha-2-macroglobulin deficiency MONDO:0013586 label Chitotriosidase deficiency obsolete Chitotriosidase deficiency MONDO:0013612 label Geleophysic dysplasia 2 geleophysic dysplasia 2 -MONDO:0013617 label overgrowth-macrocephaly-facial dysmorphism syndrome obsolete overgrowth-macrocephaly-facial dysmorphism syndrome MONDO:0013799 label efavirenz, poor metabolism of obsolete efavirenz, poor metabolism of -MONDO:0014014 label epidermolysis bullosa simplex due to exophilin 5 deficiency epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive MONDO:0014053 label stomatin-like protein-2, hyperphosphorylation of obsolete stomatin-like protein-2, hyperphosphorylation of -MONDO:0014180 label epidermolysis bullosa simplex due to BP230 deficiency epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +MONDO:0014253 label autoimmune lymphoproliferative syndrome type 3 obsolete autoimmune lymphoproliferative syndrome type 3 MONDO:0014320 label optic atrophy-intellectual disability syndrome Bosch-Boonstra-Schaaf optic atrophy syndrome -MONDO:0016334 label neuromuscular disease with dilated cardiomyopathy obsolete neuromuscular disease with dilated cardiomyopathy -MONDO:0017020 label secondary interstitial lung disease specific to childhood associated with a systemic disease obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease MONDO:0014826 label nucleoside diphosphate-linked moiety X Motif 15 deficiency obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency -MONDO:0015006 label generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss epidermolysis bullosa simplex 6, generalized, with scarring and hair loss -MONDO:0015052 label primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies -MONDO:0015081 label neuroendocrine tumor with other location obsolete neuroendocrine tumor with other location -MONDO:0020266 label genodermatosis with ocular features obsolete genodermatosis with ocular features -MONDO:0015136 label immunodeficiency due to a genetic complement cascade protein anomaly obsolete immunodeficiency due to a genetic complement cascade protein anomaly MONDO:0015153 label autosomal monosomy obsolete autosomal monosomy -MONDO:0015181 label congenital intestinal disease due to an enzymatic defect obsolete congenital intestinal disease due to an enzymatic defect -MONDO:0020138 label ataxia with dementia obsolete ataxia with dementia -MONDO:0015331 label malformation syndrome with skin/mucosae involvement obsolete malformation syndrome with skin/mucosae involvement -MONDO:0015495 label otomandibular dysplasia associated with monogenic syndromes obsolete otomandibular dysplasia associated with monogenic syndromes -MONDO:0017641 label miscellaneous movement disorder due to neurodegenerative disease obsolete miscellaneous movement disorder due to neurodegenerative disease -MONDO:0017662 label miscellaneous movement disorder due to genetic neurodegenerative disease obsolete miscellaneous movement disorder due to genetic neurodegenerative disease -MONDO:0015572 label cerebral malformation due to abnormal neuronal migration obsolete cerebral malformation due to abnormal neuronal migration -MONDO:0015581 label bile acid synthesis defect with cholestasis and malabsorption obsolete bile acid synthesis defect with cholestasis and malabsorption -MONDO:0015654 label idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes -MONDO:0015656 label metabolic disease with epilepsy obsolete metabolic disease with epilepsy -MONDO:0015658 label cerebral diseases of vascular origin with epilepsy obsolete cerebral diseases of vascular origin with epilepsy -MONDO:0015709 label immunodeficiency syndrome with autoimmunity obsolete immunodeficiency syndrome with autoimmunity -MONDO:0015710 label immune dysregulation disease with immunodeficiency obsolete immune dysregulation disease with immunodeficiency -MONDO:0015711 label specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells -MONDO:0018035 label syndrome with combined immunodeficiency obsolete syndrome with combined immunodeficiency -MONDO:0020063 label malformation syndrome with hamartosis obsolete malformation syndrome with hamartosis -MONDO:0015789 label non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations -MONDO:0015825 label obesity due to congenital leptin resistance obsolete obesity due to congenital leptin resistance -MONDO:0015919 label syndromic neurometabolic disease with non-X-linked intellectual disability obsolete syndromic neurometabolic disease with non-X-linked intellectual disability -MONDO:0015922 label channelopathy with epilepsy obsolete channelopathy with epilepsy -MONDO:0015928 label secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease obsolete secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease -MONDO:0016177 label systemic inflammatory disease associated with an acquired peripheral neuropathy obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy -MONDO:0017952 label non-familial rare disease with dilated cardiomyopathy obsolete non-familial rare disease with dilated cardiomyopathy -MONDO:0020253 label syndrome with a symptomatic strabismus obsolete syndrome with a symptomatic strabismus -MONDO:0016050 label thiamine-responsive encephalopathy obsolete thiamine-responsive encephalopathy -MONDO:0016104 label infectious disease with peripheral neuropathy obsolete infectious disease with peripheral neuropathy -MONDO:0016136 label cerebellar ataxia with peripheral neuropathy obsolete cerebellar ataxia with peripheral neuropathy -MONDO:0016137 label acute and subacute inflammatory demyelinating polyneuropathy obsolete acute and subacute inflammatory demyelinating polyneuropathy -MONDO:0016178 label peripheral neuropathy associated with monoclonal gammopathy obsolete peripheral neuropathy associated with monoclonal gammopathy -MONDO:0016180 label hematological disease associated with an acquired peripheral neuropathy obsolete hematological disease associated with an acquired peripheral neuropathy -MONDO:0016181 label solid tumor associated with an acquired peripheral neuropathy obsolete solid tumor associated with an acquired peripheral neuropathy -MONDO:0016235 label complex vascular malformation with associated anomalies obsolete complex vascular malformation with associated anomalies -MONDO:0016325 label glycogen storage disease with hypertrophic cardiomyopathy obsolete glycogen storage disease with hypertrophic cardiomyopathy -MONDO:0016327 label mitochondrial disease with hypertrophic cardiomyopathy obsolete mitochondrial disease with hypertrophic cardiomyopathy -MONDO:0016328 label fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy -MONDO:0016335 label mitochondrial disease with dilated cardiomyopathy obsolete mitochondrial disease with dilated cardiomyopathy -MONDO:0016336 label fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy -MONDO:0016341 label lysosomal disease with restrictive cardiomyopathy obsolete lysosomal disease with restrictive cardiomyopathy -MONDO:0020280 label metabolic disease with cataract obsolete metabolic disease with cataract -MONDO:0016397 label lysosomal disease with epilepsy obsolete lysosomal disease with epilepsy -MONDO:0016398 label peroxisomal disease with epilepsy obsolete peroxisomal disease with epilepsy -MONDO:0016400 label metal transport or utilization disorder with epilepsy obsolete metal transport or utilization disorder with epilepsy -MONDO:0016401 label energy metabolism disorder with epilepsy obsolete energy metabolism disorder with epilepsy -MONDO:0016405 label sterol metabolism disorder with epilepsy obsolete sterol metabolism disorder with epilepsy -MONDO:0016435 label acquired dermis elastic tissue disorder with decreased elastic tissue obsolete acquired dermis elastic tissue disorder with decreased elastic tissue -MONDO:0016488 label beta-thalassemia associated with another hemoglobin anomaly obsolete beta-thalassemia associated with another hemoglobin anomaly -MONDO:0016492 label beta-thalassemia with other manifestations obsolete beta-thalassemia with other manifestations -MONDO:0018395 label male infertility due to sperm motility disorder obsolete male infertility due to sperm motility disorder -MONDO:0016578 label mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -MONDO:0016628 label hemorrhagic disorder due to a coagulation factors defect obsolete hemorrhagic disorder due to a coagulation factors defect -MONDO:0016704 label glial tumor of neuroepithelial tissue with unknown origin obsolete glial tumor of neuroepithelial tissue with unknown origin -MONDO:0016754 label vestibular schwannoma obsolete vestibular schwannoma -MONDO:0016791 label mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies -MONDO:0016793 label mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -MONDO:0016795 label mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA obsolete mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA -MONDO:0016799 label mitochondrial oxidative phosphorylation disorder with no known mechanism obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism MONDO:0016946 label partial trisomy of the short arm of chromosome 9 obsolete partial trisomy of the short arm of chromosome 9 MONDO:0016962 label partial duplication of the long arm of chromosome 11 obsolete partial duplication of the long arm of chromosome 11 MONDO:0016963 label partial duplication of the long arm of chromosome 13 obsolete partial duplication of the long arm of chromosome 13 @@ -191,96 +51,10 @@ MONDO:0017002 label polysomy of X chromosome obsolete polysomy of X chromosome MONDO:0017005 label Y chromosome number anomaly obsolete Y chromosome number anomaly MONDO:0017006 label X and Y chromosomal anomaly obsolete X and Y chromosomal anomaly MONDO:0017011 label uniparental disomy of chromosome X obsolete uniparental disomy of chromosome X -MONDO:0017016 label primary interstitial lung disease specific to childhood due to alveolar structure disorder obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder -MONDO:0017017 label primary interstitial lung disease specific to childhood due to alveolar vascular disorder obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder -MONDO:0017022 label secondary interstitial lung disease specific to childhood associated with a systemic vasculitis obsolete secondary interstitial lung disease specific to childhood associated with a systemic vasculitis -MONDO:0017023 label secondary interstitial lung disease specific to childhood associated with a granulomatous disease obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease -MONDO:0017024 label secondary interstitial lung disease specific to childhood associated with a metabolic disease obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease -MONDO:0017028 label secondary interstitial lung disease specific to adulthood associated with a systemic disease obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease -MONDO:0017032 label primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder -MONDO:0017033 label primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder obsolete primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder -MONDO:0017037 label secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease -MONDO:0017038 label secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis -MONDO:0017119 label syndrome with microcephaly as major feature obsolete syndrome with microcephaly as major feature -MONDO:0017121 label syndrome with a Dandy-Walker malformation as major feature obsolete syndrome with a Dandy-Walker malformation as major feature -MONDO:0017150 label pulmonary arterial hypertension associated with another disease obsolete pulmonary arterial hypertension associated with another disease -MONDO:0017151 label pulmonary arterial hypertension associated with connective tissue disease obsolete pulmonary arterial hypertension associated with connective tissue disease -MONDO:0017152 label pulmonary arterial hypertension associated with congenital heart disease obsolete pulmonary arterial hypertension associated with congenital heart disease -MONDO:0017153 label pulmonary arterial hypertension associated with HIV infection obsolete pulmonary arterial hypertension associated with HIV infection -MONDO:0017154 label pulmonary arterial hypertension associated with portal hypertension obsolete pulmonary arterial hypertension associated with portal hypertension -MONDO:0017155 label pulmonary arterial hypertension associated with schistosomiasis obsolete pulmonary arterial hypertension associated with schistosomiasis -MONDO:0017156 label pulmonary arterial hypertension associated with chronic hemolytic anemia obsolete pulmonary arterial hypertension associated with chronic hemolytic anemia -MONDO:0017158 label pulmonary hypertension with unclear multifactorial mechanism obsolete pulmonary hypertension with unclear multifactorial mechanism -MONDO:0017163 label hemolytic disease due to fetomaternal alloimmunization obsolete hemolytic disease due to fetomaternal alloimmunization -MONDO:0017273 label autosomal ichthyosis syndrome with fatal disease course obsolete autosomal ichthyosis syndrome with fatal disease course -MONDO:0017333 label hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism -MONDO:0017369 label autoinflammatory syndrome with immune deficiency obsolete autoinflammatory syndrome with immune deficiency -MONDO:0017390 label methylmalonic acidemia without homocystinuria obsolete methylmalonic acidemia without homocystinuria MONDO:0017412 label 2q31.1 microduplication syndrome obsolete 2q31.1 microduplication syndrome -MONDO:0017434 label syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -MONDO:0017635 label parkinsonian syndrome due to neurodegenerative disease obsolete parkinsonian syndrome due to neurodegenerative disease -MONDO:0017643 label frontotemporal neurodegeneration with movement disorder obsolete frontotemporal neurodegeneration with movement disorder -MONDO:0017646 label neurodegenerative disease with chorea obsolete neurodegenerative disease with chorea -MONDO:0017647 label postinfectious autoimmune disease with chorea obsolete postinfectious autoimmune disease with chorea -MONDO:0017693 label glycogen storage disease due to glycogen synthase deficiency obsolete glycogen storage disease due to glycogen synthase deficiency -MONDO:0017717 label metabolic disease due to other fatty acid oxidation disorder obsolete metabolic disease due to other fatty acid oxidation disorder -MONDO:0017718 label mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes -MONDO:0017841 label autoimmune disease with skin involvement obsolete autoimmune disease with skin involvement -MONDO:0017897 label autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency -MONDO:0017898 label autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency -MONDO:0017899 label autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency -MONDO:0017956 label mixed autoinflammatory and autoimmune syndrome obsolete mixed autoinflammatory and autoimmune syndrome -MONDO:0017965 label syndrome with 46,XX disorder of sex development obsolete syndrome with 46,XX disorder of sex development -MONDO:0017970 label 46,XY disorder of sex development due to impaired androgen production obsolete 46,XY disorder of sex development due to impaired androgen production -MONDO:0017971 label 46,XY disorder of sex development due to a cholesterol synthesis defect obsolete 46,XY disorder of sex development due to a cholesterol synthesis defect -MONDO:0018118 label disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -MONDO:0018036 label immunodeficiency due to absence of thymus obsolete immunodeficiency due to absence of thymus -MONDO:0018042 label immunodeficiency syndrome with abnormal pigmentation obsolete immunodeficiency syndrome with abnormal pigmentation -MONDO:0020276 label pigmentation disorder with eye involvement, excluding albinism obsolete pigmentation disorder with eye involvement, excluding albinism -MONDO:0018119 label disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement -MONDO:0018120 label disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement -MONDO:0018132 label congenital muscular alpha-dystroglycanopathy with brain and eye anomalies obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies -MONDO:0018157 label mitochondrial disorder due to a defect in mitochondrial protein synthesis obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis MONDO:0018186 label ring chromosome obsolete ring chromosome -MONDO:0018251 label glycogen storage disease due to phosphorylase kinase deficiency obsolete glycogen storage disease due to phosphorylase kinase deficiency -MONDO:0018284 label congenital disorder of glycosylation with neurological involvement obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0018288 label congenital disorder of glycosylation with hepatic involvement obsolete congenital disorder of glycosylation with hepatic involvement -MONDO:0018289 label congenital disorder of glycosylation with dilated cardiomyopathy obsolete congenital disorder of glycosylation with dilated cardiomyopathy -MONDO:0018291 label congenital disorder of glycosylation with intestinal involvement obsolete congenital disorder of glycosylation with intestinal involvement -MONDO:0018293 label congenital disorder of glycosylation with skin involvement obsolete congenital disorder of glycosylation with skin involvement -MONDO:0018296 label congenital disorder of glycosylation with developmental anomaly obsolete congenital disorder of glycosylation with developmental anomaly -MONDO:0018335 label deep dermatophytosis obsolete deep dermatophytosis -MONDO:0018389 label male infertility due to gonadal dysgenesis or sperm disorder obsolete male infertility due to gonadal dysgenesis or sperm disorder -MONDO:0018390 label male infertility due to sperm disorder obsolete male infertility due to sperm disorder -MONDO:0018391 label male infertility with spermatogenesis disorder obsolete male infertility with spermatogenesis disorder -MONDO:0018392 label male infertility with spermatogenesis disorder due to single gene mutation obsolete male infertility with spermatogenesis disorder due to single gene mutation -MONDO:0018398 label female infertility due to a congenital hypogonadotropic hypogonadism obsolete female infertility due to a congenital hypogonadotropic hypogonadism -MONDO:0018402 label female infertility due to gonadal dysgenesis obsolete female infertility due to gonadal dysgenesis -MONDO:0018403 label female infertility due to an implantation defect obsolete female infertility due to an implantation defect -MONDO:0018407 label male infertility due to obstructive azoospermia of genetic origin obsolete male infertility due to obstructive azoospermia of genetic origin -MONDO:0018414 label female infertility due to an implantation defect of genetic origin obsolete female infertility due to an implantation defect of genetic origin -MONDO:0018444 label female infertility due to fertilization defect obsolete female infertility due to fertilization defect -MONDO:0018549 label late-onset scapuloperoneal muscular dystrophy with hyaline bodies obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies -MONDO:0018618 label 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect -MONDO:0018649 label cerebral visual impairment obsolete cerebral visual impairment -MONDO:0018727 label immunodeficiency due to a complement regulatory deficiency obsolete immunodeficiency due to a complement regulatory deficiency -MONDO:0018750 label class I glucose-6-phosphate dehydrogenase deficiency obsolete class I glucose-6-phosphate dehydrogenase deficiency -MONDO:0018789 label COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy -MONDO:0020229 label cerebral disease with cataract obsolete cerebral disease with cataract MONDO:0018983 label tolosa-Hunt syndrome Tolosa-Hunt syndrome -MONDO:0019594 label 46,XY disorder of sex development due to a testosterone synthesis defect obsolete 46,XY disorder of sex development due to a testosterone synthesis defect -MONDO:0019595 label 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect -MONDO:0019596 label 46,XY disorder of sex development due to testicular steroidogenesis defect obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect MONDO:0019683 label syndactyly type 2 obsolete syndactyly type 2 -MONDO:0019715 label syndrome with synostosis or other joint formation defect obsolete syndrome with synostosis or other joint formation defect -MONDO:0019717 label chromosomal disease with overgrowth obsolete chromosomal disease with overgrowth -MONDO:0019747 label hematological disorder with renal involvement obsolete hematological disorder with renal involvement -MONDO:0019853 label congenital hypothyroidism due to developmental anomaly obsolete congenital hypothyroidism due to developmental anomaly -MONDO:0019856 label primary congenital hypothyroidism without thyroid developmental anomaly obsolete primary congenital hypothyroidism without thyroid developmental anomaly -MONDO:0019859 label congenital thyroid malformation without hypothyroidism obsolete congenital thyroid malformation without hypothyroidism -MONDO:0020041 label 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue -MONDO:0020042 label syndrome with 46,XY disorder of sex development obsolete syndrome with 46,XY disorder of sex development -MONDO:0020045 label autosomal recessive cerebellar ataxia due to a DNA repair defect obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect MONDO:0020050 label autosomal trisomy obsolete autosomal trisomy MONDO:0020053 label total autosomal monosomy obsolete total autosomal monosomy MONDO:0020054 label partial autosomal monosomy obsolete partial autosomal monosomy @@ -291,45 +65,14 @@ MONDO:0020059 label gonosome number anomaly obsolete gonosome number anomaly MONDO:0020060 label gonosome structural anomaly obsolete gonosome structural anomaly MONDO:0020061 label chromosome Y structural anomaly obsolete chromosome Y structural anomaly MONDO:0020062 label chromosome X structural anomaly obsolete chromosome X structural anomaly -MONDO:0020078 label acute myeloid leukemia with recurrent genetic anomaly obsolete acute myeloid leukemia with recurrent genetic anomaly -MONDO:0020090 label male infertility due to gonadal dysgenesis obsolete male infertility due to gonadal dysgenesis -MONDO:0020091 label male infertility due to obstructive azoospermia obsolete male infertility due to obstructive azoospermia -MONDO:0020098 label constitutional anemia due to iron metabolism disorder obsolete constitutional anemia due to iron metabolism disorder -MONDO:0020101 label constitutional hemolytic anemia due to membrane defect obsolete constitutional hemolytic anemia due to membrane defect -MONDO:0020103 label constitutional hemolytic anemia due to acanthocytosis obsolete constitutional hemolytic anemia due to acanthocytosis -MONDO:0020105 label hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies -MONDO:0020106 label hemolytic anemia due to a disorder of glycolytic enzymes obsolete hemolytic anemia due to a disorder of glycolytic enzymes -MONDO:0020107 label hemolytic anemia due to an erythrocyte nucleotide metabolism disorder obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder -MONDO:0020109 label constitutional megaloblastic anemia due to vitamin B12 metabolism disorder obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder -MONDO:0020111 label constitutional megaloblastic anemia due to folate metabolism disorder obsolete constitutional megaloblastic anemia due to folate metabolism disorder -MONDO:0020137 label frontotemporal degeneration with dementia obsolete frontotemporal degeneration with dementia -MONDO:0020142 label metabolic disease with dementia obsolete metabolic disease with dementia -MONDO:0020217 label secondary dysgenetic glaucoma associated with neural crest cell migration anomaly obsolete secondary dysgenetic glaucoma associated with neural crest cell migration anomaly -MONDO:0020230 label renal disease with cataract obsolete renal disease with cataract -MONDO:0020231 label cardiac disease with cataract obsolete cardiac disease with cataract -MONDO:0020233 label dentocutaneous disease with cataract obsolete dentocutaneous disease with cataract -MONDO:0020259 label myopathy with eye involvement obsolete myopathy with eye involvement -MONDO:0020265 label mitochondrial disease with eye involvement obsolete mitochondrial disease with eye involvement -MONDO:0020267 label genetic keratinization disorder associated with ocular features obsolete genetic keratinization disorder associated with ocular features -MONDO:0020270 label pigmentation disorder with eye involvement obsolete pigmentation disorder with eye involvement -MONDO:0020273 label disease with potential neoplastic degeneration associated with ocular features obsolete disease with potential neoplastic degeneration associated with ocular features -MONDO:0020274 label onycho-patellar syndrome with eye involvement obsolete onycho-patellar syndrome with eye involvement -MONDO:0020278 label metabolic disease associated with ocular features obsolete metabolic disease associated with ocular features -MONDO:0020279 label metabolic disease with corneal opacity obsolete metabolic disease with corneal opacity -MONDO:0020282 label metabolic disease with macular cherry-red spot obsolete metabolic disease with macular cherry-red spot MONDO:0020734 label erythrocyte AMP deaminase deficiency obsolete erythrocyte AMP deaminase deficiency MONDO:0020745 label autosomal dominant cardiac arrhythmia (Kuhn) ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome MONDO:0021059 label head or neck disorder/disorder obsolete head or neck disorder/disorder -MONDO:0021421 label carcinoid tumors, intestina obsolete carcinoid tumors, intestina MONDO:0022109 label catatrichy obsolete catatrichy MONDO:0022794 label chromosome 8 deletion obsolete chromosome 8 deletion -MONDO:0024348 label pityriasis capitis obsolete pityriasis capitis MONDO:0026768 label warfarin sensitivity, X-linked obsolete warfarin sensitivity, X-linked -MONDO:0027750 label serpinopathy with toxic serpin polymerization obsolete serpinopathy with toxic serpin polymerization -MONDO:0027751 label serpinopathy with loss of serpin function obsolete serpinopathy with loss of serpin function MONDO:0030032 label chromosome 17q11.2 duplication syndrome, 1.4-mb obsolete chromosome 17q11.2 duplication syndrome, 1.4-mb MONDO:0033552 label blood group, lewis system obsolete blood group, lewis system -MONDO:0033967 label immune dysregulation with inflammatory bowel disease obsolete immune dysregulation with inflammatory bowel disease MONDO:0043195 label rubinstein taybi like syndrome Rubinstein Taybi like syndrome MONDO:0044965 label abdominal and pelvic region disorder obsolete abdominal and pelvic region disorder MONDO:0044967 label limb disorder obsolete limb disorder @@ -337,586 +80,77 @@ MONDO:0044978 label disease of cell nucleus obsolete disease of cell nucleus MONDO:0044988 label hip region disorder obsolete hip region disorder MONDO:0060593 label actn3 deficiency obsolete actn3 deficiency MONDO:0700130 label partial Trisomy 21 partial trisomy 21 -MONDO:0000247 definition A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia. OBSOLETE. A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia. -MONDO:0000275 definition A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). OBSOLETE. A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). -MONDO:0000322 definition A disease caused by infection with Bartonella bacilliformis. OBSOLETE. A disease caused by infection with Bartonella bacilliformis. -MONDO:0000526 definition A carcinoid tumor (disease) that involves the vermiform appendix. OBSOLETE. A carcinoid tumor (disease) that involves the vermiform appendix. -MONDO:0000606 definition A allergy involving gluten. OBSOLETE. A allergy involving gluten. -MONDO:0000641 definition A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. OBSOLETE. A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. MONDO:0000651 definition A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma. OBSOLETE. A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma. -MONDO:0000746 definition The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region. OBSOLETE. The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region. -MONDO:0000747 definition A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac. OBSOLETE. A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac. -MONDO:0000772 definition A allergy involving pollen. OBSOLETE. A allergy involving pollen. -MONDO:0000773 definition A allergy involving a Phleum pratense. OBSOLETE. A allergy involving a Phleum pratense. -MONDO:0000776 definition A allergy involving a metal allergen. OBSOLETE. A allergy involving a metal allergen. -MONDO:0000779 definition A allergy involving a Malus domestica. OBSOLETE. A allergy involving a Malus domestica. -MONDO:0000780 definition A allergy involving a Prunus armeniaca. OBSOLETE. A allergy involving a Prunus armeniaca. -MONDO:0000785 definition A allergy involving a Prunus persica. OBSOLETE. A allergy involving a Prunus persica. -MONDO:0000786 definition A allergy involving a Prunus domestica. OBSOLETE. A allergy involving a Prunus domestica. -MONDO:0000787 definition A allergy involving a Solanum lycopersicum. OBSOLETE. A allergy involving a Solanum lycopersicum. -MONDO:0000788 definition A allergy involving fish. OBSOLETE. A allergy involving fish. -MONDO:0000789 definition A allergy involving a Gadus morhua. OBSOLETE. A allergy involving a Gadus morhua. -MONDO:0000790 definition A allergy involving a Salmo salar. OBSOLETE. A allergy involving a Salmo salar. -MONDO:0000791 definition A allergy involving a Cyprinus carpio. OBSOLETE. A allergy involving a Cyprinus carpio. -MONDO:0000793 definition A allergy involving a Oncorhynchus mykiss. OBSOLETE. A allergy involving a Oncorhynchus mykiss. -MONDO:0000794 definition A allergy involving a beta-lactam. OBSOLETE. A allergy involving a beta-lactam. -MONDO:0000795 definition An allergy to Penicillin. OBSOLETE. An allergy to Penicillin. -MONDO:0000796 definition A allergy involving cow mile. OBSOLETE. A allergy involving cow mile. -MONDO:0000797 definition A allergy involving goat milk. OBSOLETE. A allergy involving goat milk. -MONDO:0000798 definition A allergic disease involving a mollusc food product. OBSOLETE. A allergic disease involving a mollusc food product. -MONDO:0000799 definition A allergic disease involving a crustacean food product. OBSOLETE. A allergic disease involving a crustacean food product. -MONDO:0000800 definition A allergic disease involving a brown shrimp. OBSOLETE. A allergic disease involving a brown shrimp. -MONDO:0000801 definition A allergic disease involving a green mud crab. OBSOLETE. A allergic disease involving a green mud crab. -MONDO:0000802 definition A allergic disease involving a Indian prawn. OBSOLETE. A allergic disease involving a Indian prawn. -MONDO:0000803 definition A allergy involving a Penaeus monodon. OBSOLETE. A allergy involving a Penaeus monodon. -MONDO:0000804 definition A allergy involving a Litopenaeus schmitti. OBSOLETE. A allergy involving a Litopenaeus schmitti. -MONDO:0000805 definition A allergic disease involving a snail food product. OBSOLETE. A allergic disease involving a snail food product. -MONDO:0000806 definition A allergy involving a Turbo cornutus. OBSOLETE. A allergy involving a Turbo cornutus. -MONDO:0000810 definition A dilated cardiomyopathy that has material basis in mutations in the DMD gene. OBSOLETE. A dilated cardiomyopathy that has material basis in mutations in the DMD gene. -MONDO:0000834 definition A bone structure disease that results in change or damage of structure located in bone. OBSOLETE. A bone structure disease that results in change or damage of structure located in bone. -MONDO:0000839 definition Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. OBSOLETE. Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. -MONDO:0000857 definition A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. OBSOLETE. A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. -MONDO:0000911 definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene. OBSOLETE. Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene. -MONDO:0000991 definition A bundle branch block in which the activation of the left ventricle is delayed. OBSOLETE. A bundle branch block in which the activation of the left ventricle is delayed. -MONDO:0001026 definition A infectious disease involving the Bacteria. OBSOLETE. A infectious disease involving the Bacteria. -MONDO:0001278 definition A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA. OBSOLETE. A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA. -MONDO:0001362 definition An abnormal white reflection from the retina of the eye. OBSOLETE. An abnormal white reflection from the retina of the eye. -MONDO:0001445 definition Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy). OBSOLETE. Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy). -MONDO:0001494 definition A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing. OBSOLETE. A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing. -MONDO:0001807 definition A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1. OBSOLETE. A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1. -MONDO:0005128 definition A disease involving the sensory system. OBSOLETE. A disease involving the sensory system. -MONDO:0002176 definition A malignant neoplasm involving the connective tissue OBSOLETE. A malignant neoplasm involving the connective tissue -MONDO:0002497 definition Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food. OBSOLETE. Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food. -MONDO:0002510 definition Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus. OBSOLETE. Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus. -MONDO:0002767 definition A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism. OBSOLETE. A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism. -MONDO:0003043 definition A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage. OBSOLETE. A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage. -MONDO:0003044 definition A chondrosarcoma that is located in exclusively soft tissue. OBSOLETE. A chondrosarcoma that is located in exclusively soft tissue. -MONDO:0003160 definition An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize. OBSOLETE. An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize. -MONDO:0003527 definition A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae. OBSOLETE. A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae. -MONDO:0015870 definition Any of the forms of breast cancer that have a rare incidence. OBSOLETE. Any of the forms of breast cancer that have a rare incidence. -MONDO:0003605 definition A neuroblastoma arising from the adrenal gland. OBSOLETE. A neuroblastoma arising from the adrenal gland. -MONDO:0004018 definition A carcinoma that involves the liver. OBSOLETE. A carcinoma that involves the liver. -MONDO:0004391 definition A extraosseous chondrosarcoma that occurs in an adult. OBSOLETE. A extraosseous chondrosarcoma that occurs in an adult. -MONDO:0004476 definition A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma. OBSOLETE. A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma. -MONDO:0004632 definition An obsolete term referring to Hodgkin lymphoma. OBSOLETE. An obsolete term referring to Hodgkin lymphoma. -MONDO:0005014 definition Inflammation of the skin and muscle. OBSOLETE. Inflammation of the skin and muscle. -MONDO:0021199 definition A disease that disrupts the functioning of an organ system. OBSOLETE. A disease that disrupts the functioning of an organ system. -MONDO:0005171 definition Chronic form of myeloproliferative neoplasm. OBSOLETE. Chronic form of myeloproliferative neoplasm. -MONDO:0005196 definition Presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends OBSOLETE. Presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends -MONDO:0005251 definition A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children. OBSOLETE. A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children. -MONDO:0005353 definition The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning. OBSOLETE. The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning. -MONDO:0015940 definition Any of the forms of rheumatologic disorder that have a rare incidence. OBSOLETE. Any of the forms of rheumatologic disorder that have a rare incidence. -MONDO:0005422 definition A distinct, highly heritable Hodgkin lymphoma subtype. OBSOLETE. A distinct, highly heritable Hodgkin lymphoma subtype. -MONDO:0005569 definition Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE). OBSOLETE. Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE). -MONDO:0005702 definition A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. OBSOLETE. A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. -MONDO:0005741 definition Allergic reaction to eggs that is triggered by the immune system. OBSOLETE. Allergic reaction to eggs that is triggered by the immune system. -MONDO:0006072 definition An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent. OBSOLETE. An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent. MONDO:0006086 definition A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma. A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma. -MONDO:0006194 definition A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin. OBSOLETE. A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin. -MONDO:0006251 definition A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions. -MONDO:0006376 definition A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern. OBSOLETE. A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern. -MONDO:0006445 definition A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts. OBSOLETE. A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts. -MONDO:0006453 definition An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies. OBSOLETE. An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies. -MONDO:0006454 definition A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation. OBSOLETE. A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation. -MONDO:0006475 definition A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology. OBSOLETE. A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology. -MONDO:0006542 definition A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes. OBSOLETE. A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes. MONDO:0006588 definition Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13. -MONDO:0006674 definition A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure. OBSOLETE. A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure. -MONDO:0006728 definition Inflammation of an intervertebral disc or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others. OBSOLETE. Inflammation of an intervertebral disc or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others. -MONDO:0006768 definition Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. OBSOLETE. Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. -MONDO:0006785 definition A systemic, usually self-limited immune complex vasculitis, characterized by immunoglobulin A deposition in the small vessels and kidneys. It is manifested with small hemorrhages in the skin, gastrointestinal symptoms, arthritis, and nephropathy. -MONDO:0006872 definition Allergic reaction to tree nuts that is triggered by the immune system. OBSOLETE. Allergic reaction to tree nuts that is triggered by the immune system. -MONDO:0007021 definition Allergic reaction to wheat that is triggered by the immune system. OBSOLETE. Allergic reaction to wheat that is triggered by the immune system. -MONDO:0007063 definition A adamantinoma that involves the long bone. OBSOLETE. A adamantinoma that involves the long bone. -MONDO:0015140 definition Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. -MONDO:0007219 definition Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant. A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant. -MONDO:0019696 definition Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type -MONDO:0007464 definition Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated. OBSOLETE. Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated. -MONDO:0007550 definition Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. -MONDO:0007551 definition Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. -MONDO:0007555 definition Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering. A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering. -MONDO:0007556 definition Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation. A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation. -MONDO:0007658 definition A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation. OBSOLETE. A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation. -MONDO:0007778 definition A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism). OBSOLETE. A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism). -MONDO:0007798 definition Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies. OBSOLETE. Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies. -MONDO:0008033 definition Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death. OBSOLETE. Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death. -MONDO:0008331 definition Apparent optic disc swelling in the absence of increased intracranial pressure. OBSOLETE. Apparent optic disc swelling in the absence of increased intracranial pressure. -MONDO:0015510 definition Rare genetic respiratory system disease. OBSOLETE. Rare genetic respiratory system disease. -MONDO:0015218 definition A developmental defect of the eye that is part of a larger syndrome. OBSOLETE. A developmental defect of the eye that is part of a larger syndrome. -MONDO:0008703 definition Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal. An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal. -MONDO:0008872 definition 'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.' A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease. -MONDO:0009049 definition ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS. A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS. -MONDO:0009181 definition Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. -MONDO:0009317 definition A trichothiodystrophy that is non-photosensitive OBSOLETE. A trichothiodystrophy that is non-photosensitive -MONDO:0009427 definition Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. OBSOLETE. Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. -MONDO:0009428 definition Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait. OBSOLETE. Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait. -MONDO:0015945 definition Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. OBSOLETE. Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. MONDO:0009930 definition Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms. OBSOLETE. Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms. -MONDO:0010045 definition This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely. OBSOLETE. This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely. -MONDO:0010086 definition Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource. OBSOLETE. Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource. -MONDO:0016826 definition Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ). An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ). -MONDO:0010330 definition Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss. OBSOLETE. Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss. -MONDO:0010490 definition (Xq28). A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28). -MONDO:0010601 definition An instance of gynecomastia that is caused by an inherited modification of the individual's genome. OBSOLETE. An instance of gynecomastia that is caused by an inherited modification of the individual's genome. -MONDO:0016297 definition Prelingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition. A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition. -MONDO:0015188 definition A metabolic disease that involves the intestine. OBSOLETE. A metabolic disease that involves the intestine. -MONDO:0010881 definition Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies. A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies. -MONDO:0010976 definition KRT14-related epidermolysis bullosa simplex (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering. A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering. -MONDO:0011140 definition Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant. -MONDO:0018729 definition An instance of rare vascular tumor that is caused by a modification of the individual's genome. OBSOLETE. An instance of rare vascular tumor that is caused by a modification of the individual's genome. -MONDO:0011794 definition Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. OBSOLETE. Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. -MONDO:0011847 definition A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms. An inherited susceptibility or predisposition to developing migraines without aura. -MONDO:0011865 definition A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34. OBSOLETE. A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34. -MONDO:0012258 definition Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. -MONDO:0019066 definition Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. OBSOLETE. Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. -MONDO:0012735 definition Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients. A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients. -MONDO:0012807 definition Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. -MONDO:0016634 definition An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual. OBSOLETE. An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual. -MONDO:0013082 definition A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated. -MONDO:0013144 definition A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism. A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins). -MONDO:0013357 definition 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. -MONDO:0013617 definition This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism. -MONDO:0014424 definition Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate. OBSOLETE. Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate. -MONDO:0014425 definition Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy OBSOLETE. Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy -MONDO:0015052 definition Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation. OBSOLETE. Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation. -MONDO:0015076 definition Any of the forms of tumor of parathyroid gland that have a rare incidence. OBSOLETE. Any of the forms of tumor of parathyroid gland that have a rare incidence. -MONDO:0015107 definition A form of eye disease that is both rare and inborn. OBSOLETE. A form of eye disease that is both rare and inborn. -MONDO:0015108 definition Rare non-syndromic intellectual disability. OBSOLETE. Rare non-syndromic intellectual disability. -MONDO:0015112 definition Any of the forms of pancreas disease that have a rare incidence. OBSOLETE. Any of the forms of pancreas disease that have a rare incidence. -MONDO:0015116 definition Rare biliary tract disease. OBSOLETE. Rare biliary tract disease. -MONDO:0015117 definition Any of the forms of hepatobiliary neoplasm that have a rare incidence. OBSOLETE. Any of the forms of hepatobiliary neoplasm that have a rare incidence. -MONDO:0015121 definition Any of the forms of eye neoplasm that have a rare incidence. OBSOLETE. Any of the forms of eye neoplasm that have a rare incidence. -MONDO:0015122 definition Rare diabetes mellitus. OBSOLETE. Rare diabetes mellitus. -MONDO:0015123 definition Rare lipid metabolism disorder. OBSOLETE. Rare lipid metabolism disorder. -MONDO:0015125 definition Rare thyroid disease. OBSOLETE. Rare thyroid disease. -MONDO:0015139 definition Rare epilepsy. OBSOLETE. Rare epilepsy. -MONDO:0015143 definition Rare movement disorder. OBSOLETE. Rare movement disorder. -MONDO:0015162 definition Rare syndromic intellectual disability. OBSOLETE. Rare syndromic intellectual disability. -MONDO:0015172 definition This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness. OBSOLETE. This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness. -MONDO:0015186 definition Rare intestinal neoplasm. OBSOLETE. Rare intestinal neoplasm. -MONDO:0015187 definition Rare inflammatory bowel disease. OBSOLETE. Rare inflammatory bowel disease. -MONDO:0015189 definition An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma. OBSOLETE. An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma. -MONDO:0015223 definition Rare anemia. OBSOLETE. Rare anemia. -MONDO:0015224 definition Any of the forms of poisoning that have a rare incidence. OBSOLETE. Any of the forms of poisoning that have a rare incidence. +MONDO:0014253 definition A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma. OBSOLETE. A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma. MONDO:0700085 definition A chromosomal anomaly consisting of the presence of three chromosomes of the same type in addition to the normal diploid number. A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number. -MONDO:0015245 definition Rare intestinal disease. OBSOLETE. Rare intestinal disease. -MONDO:0015305 definition Rare endometriosis. OBSOLETE. Rare endometriosis. -MONDO:0015328 definition Any of the forms of bone development disease that have a rare incidence. OBSOLETE. Any of the forms of bone development disease that have a rare incidence. -MONDO:0015423 definition Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans. OBSOLETE. Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans. -MONDO:0015460 definition A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. OBSOLETE. A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. -MONDO:0015507 definition Rare genetic liver disease. OBSOLETE. Rare genetic liver disease. -MONDO:0015513 definition A form of endocrine system disease that is both rare and inborn. OBSOLETE. A form of endocrine system disease that is both rare and inborn. -MONDO:0015983 definition Rare genetic syndromic intellectual disability. OBSOLETE. Rare genetic syndromic intellectual disability. -MONDO:0015575 definition Rare bacterial infectious disease. OBSOLETE. Rare bacterial infectious disease. -MONDO:0015576 definition Rare viral disease. OBSOLETE. Rare viral disease. -MONDO:0015577 definition Any of the forms of parasitic infection that have a rare incidence. OBSOLETE. Any of the forms of parasitic infection that have a rare incidence. -MONDO:0015578 definition Rare fungal infectious disease. OBSOLETE. Rare fungal infectious disease. -MONDO:0015582 definition Any of the forms of pregnancy disorder that have a rare incidence. OBSOLETE. Any of the forms of pregnancy disorder that have a rare incidence. -MONDO:0015673 definition Any of the forms of heart neoplasm that have a rare incidence. OBSOLETE. Any of the forms of heart neoplasm that have a rare incidence. -MONDO:0015680 definition Rare pervasive developmental disorder. OBSOLETE. Rare pervasive developmental disorder. -MONDO:0015868 definition Any of the forms of breast neoplasm that have a rare incidence. OBSOLETE. Any of the forms of breast neoplasm that have a rare incidence. -MONDO:0015869 definition Any of the forms of breast benign neoplasm that have a rare incidence. OBSOLETE. Any of the forms of breast benign neoplasm that have a rare incidence. -MONDO:0015881 definition A tumor involving the gastroesophageal tissue. OBSOLETE. A tumor involving the gastroesophageal tissue. -MONDO:0015882 definition Any of the forms of pancreatic neoplasm that have a rare incidence. OBSOLETE. Any of the forms of pancreatic neoplasm that have a rare incidence. -MONDO:0015885 definition A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome. OBSOLETE. A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome. -MONDO:0015886 definition Any of the forms of type 1 diabetes mellitus that have a rare incidence. OBSOLETE. Any of the forms of type 1 diabetes mellitus that have a rare incidence. -MONDO:0015893 definition Any of the forms of hypothyroidism that have a rare incidence. OBSOLETE. Any of the forms of hypothyroidism that have a rare incidence. -MONDO:0015894 definition Any of the forms of hyperthyroidism that have a rare incidence. OBSOLETE. Any of the forms of hyperthyroidism that have a rare incidence. -MONDO:0015896 definition Rare hypoparathyroidism. OBSOLETE. Rare hypoparathyroidism. -MONDO:0015897 definition Rare hyperparathyroidism. OBSOLETE. Rare hyperparathyroidism. -MONDO:0015899 definition Any of the forms of primary aldosteronism that have a rare incidence. OBSOLETE. Any of the forms of primary aldosteronism that have a rare incidence. -MONDO:0015911 definition Hemolytic anemia, the cause of which is not present at birth. OBSOLETE. Hemolytic anemia, the cause of which is not present at birth. -MONDO:0015918 definition Rare neurodegenerative disease. OBSOLETE. Rare neurodegenerative disease. -MONDO:0015936 definition A rare tumor that involves the endocrine gland. OBSOLETE. A rare tumor that involves the endocrine gland. -MONDO:0015939 definition An autoimmune form of systemic disease. OBSOLETE. An autoimmune form of systemic disease. -MONDO:0015955 definition A form of epilepsy that is both rare and inborn. OBSOLETE. A form of epilepsy that is both rare and inborn. -MONDO:0015956 definition Rare hereditary ataxia. OBSOLETE. Rare hereditary ataxia. -MONDO:0015957 definition Rare genetic movement disorder. OBSOLETE. Rare genetic movement disorder. -MONDO:0015958 definition Rare genetic bone disease. OBSOLETE. Rare genetic bone disease. -MONDO:0015969 definition Rare genetic thyroid disease. OBSOLETE. Rare genetic thyroid disease. -MONDO:0015972 definition A form of anemia (disease) that is both rare and inborn. OBSOLETE. A form of anemia (disease) that is both rare and inborn. -MONDO:0015982 definition Rare genetic intellectual disability. OBSOLETE. Rare genetic intellectual disability. -MONDO:0015984 definition Rare genetic immune system disease. OBSOLETE. Rare genetic immune system disease. -MONDO:0016050 definition Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy characterized by seizures responsive to high doses of thiamine. -MONDO:0016104 definition An infectious process affecting the peripheral nerves. OBSOLETE. An infectious process affecting the peripheral nerves. -MONDO:0016228 definition Any of the forms of vascular neoplasm that have a rare incidence. OBSOLETE. Any of the forms of vascular neoplasm that have a rare incidence. -MONDO:0016234 definition Rare arteriovenous malformation. OBSOLETE. Rare arteriovenous malformation. -MONDO:0016250 definition Any of the forms of breast adenocarcinoma that have a rare incidence. OBSOLETE. Any of the forms of breast adenocarcinoma that have a rare incidence. -MONDO:0016252 definition Rare uterine cancer. OBSOLETE. Rare uterine cancer. -MONDO:0016274 definition Rare cervical cancer. OBSOLETE. Rare cervical cancer. -MONDO:0016278 definition Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported. OBSOLETE. Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported. -MONDO:0016279 definition Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps. OBSOLETE. Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps. -MONDO:0016314 definition Rare pancreatic carcinoma. OBSOLETE. Rare pancreatic carcinoma. -MONDO:0016347 definition A rare form of cardiac rhythm disease. OBSOLETE. A rare form of cardiac rhythm disease. -MONDO:0016363 definition Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease. OBSOLETE. Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease. -MONDO:0016488 definition Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ]. OBSOLETE. Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ]. -MONDO:0016492 definition Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder. OBSOLETE. Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder. -MONDO:0016507 definition Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia. OBSOLETE. Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia. -MONDO:0016517 definition Rare genetic vascular disease. OBSOLETE. Rare genetic vascular disease. -MONDO:0016578 definition Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. OBSOLETE. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. -MONDO:0016606 definition Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease. OBSOLETE. Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease. -MONDO:0016623 definition Any of the forms of deficiency anemia that have a rare incidence. OBSOLETE. Any of the forms of deficiency anemia that have a rare incidence. -MONDO:0016631 definition A hemorrhagic disorder due to a platelet anomaly which develops after birth. OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which develops after birth. -MONDO:0016679 definition Any of the forms of neuroepithelial neoplasm that have a rare incidence. OBSOLETE. Any of the forms of neuroepithelial neoplasm that have a rare incidence. -MONDO:0016754 definition Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness. -MONDO:0016766 definition Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis. OBSOLETE. Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis. -MONDO:0016788 definition Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype. OBSOLETE. Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype. MONDO:0016946 definition Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9. MONDO:0016963 definition Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra(duplicated) copy of genetic material on the long arm (q) of chromosome 13. -MONDO:0017150 definition Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal. OBSOLETE. Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal. -MONDO:0017151 definition Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease. OBSOLETE. Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease. -MONDO:0017152 definition Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery. OBSOLETE. Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery. -MONDO:0017153 definition Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection. OBSOLETE. Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection. -MONDO:0017154 definition Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension. OBSOLETE. Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension. -MONDO:0017155 definition Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis. OBSOLETE. Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis. -MONDO:0017156 definition Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia. OBSOLETE. Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia. -MONDO:0017178 definition A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis. -MONDO:0017308 definition Hypothesized form of Marfan; dubious OBSOLETE. Hypothesized form of Marfan; dubious -MONDO:0017371 definition Rare head and neck neoplasia. OBSOLETE. Rare head and neck neoplasia. MONDO:0017388 definition A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation. -MONDO:0017390 definition Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase. OBSOLETE. Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase. -MONDO:0017414 definition Rare nevus. OBSOLETE. Rare nevus. -MONDO:0017632 definition Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence. OBSOLETE. Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence. -MONDO:0017674 definition A disease in which focal palmoplantar keratoderma is a major feature.. OBSOLETE. A disease in which focal palmoplantar keratoderma is a major feature.. -MONDO:0017678 definition A disease in which punctate palmoplantar keratoderma is a major feature.. OBSOLETE. A disease in which punctate palmoplantar keratoderma is a major feature.. -MONDO:0017712 definition "\Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.""" A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990. -MONDO:0017797 definition Any of the forms of odontogenic neoplasm that have a rare incidence. OBSOLETE. Any of the forms of odontogenic neoplasm that have a rare incidence. -MONDO:0017820 definition A disease in which Cushing syndrome is a major feature. OBSOLETE. A disease in which Cushing syndrome is a major feature. -MONDO:0017841 definition A hypersensitivity reaction type II disease that involves the skin of body. OBSOLETE. A hypersensitivity reaction type II disease that involves the skin of body. -MONDO:0017897 definition Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency. OBSOLETE. Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency. -MONDO:0017898 definition Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency. OBSOLETE. Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency. -MONDO:0017899 definition Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8). OBSOLETE. Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8). -MONDO:0018080 definition Rare germ cell tumor. OBSOLETE. Rare germ cell tumor. -MONDO:0018132 definition Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy. OBSOLETE. Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy. MONDO:0018186 definition Aberrant chromosomes with no ends, i.e., circular. OBSOLETE. Aberrant chromosomes with no ends, i.e., circular. -MONDO:0018251 definition A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency. OBSOLETE. A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency. -MONDO:0018272 definition A small cell carcinoma that involves the ovary. OBSOLETE. A small cell carcinoma that involves the ovary. -MONDO:0018404 definition Rare genetic male infertility. OBSOLETE. Rare genetic male infertility. -MONDO:0018405 definition An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. OBSOLETE. An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. -MONDO:0018411 definition An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. OBSOLETE. An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. -MONDO:0018497 definition Rare autonomic nervous system disease. OBSOLETE. Rare autonomic nervous system disease. -MONDO:0018501 definition Rare stomach carcinoma. OBSOLETE. Rare stomach carcinoma. -MONDO:0018505 definition Any of the forms of small intestine neoplasm that have a rare incidence. OBSOLETE. Any of the forms of small intestine neoplasm that have a rare incidence. -MONDO:0018508 definition Any of the forms of small intestine carcinoma that have a rare incidence. OBSOLETE. Any of the forms of small intestine carcinoma that have a rare incidence. -MONDO:0018512 definition Any of the forms of epithelial tumor of colon that have a rare incidence. OBSOLETE. Any of the forms of epithelial tumor of colon that have a rare incidence. -MONDO:0018514 definition Any of the forms of epithelial neoplasm of rectum that have a rare incidence. OBSOLETE. Any of the forms of epithelial neoplasm of rectum that have a rare incidence. -MONDO:0018557 definition Rare genetic autonomic nervous system disease. OBSOLETE. Rare genetic autonomic nervous system disease. -MONDO:0018598 definition Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). OBSOLETE. Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). -MONDO:0018649 definition A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information. OBSOLETE. A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information. -MONDO:0018730 definition An instance of rare venous malformation that is caused by a modification of the individual's genome. OBSOLETE. An instance of rare venous malformation that is caused by a modification of the individual's genome. -MONDO:0018785 definition A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. OBSOLETE. A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. -MONDO:0018799 definition Rare hypercholesterolemia. OBSOLETE. Rare hypercholesterolemia. -MONDO:0018887 definition Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE). OBSOLETE. Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE). -MONDO:0018928 definition Rare liver disease. OBSOLETE. Rare liver disease. -MONDO:0019045 definition A rare form of sleep disorder. OBSOLETE. A rare form of sleep disorder. -MONDO:0019047 definition Any of the forms of hearing loss that have a rare incidence. OBSOLETE. Any of the forms of hearing loss that have a rare incidence. -MONDO:0019048 definition Any of the forms of vascular disease that have a rare incidence. OBSOLETE. Any of the forms of vascular disease that have a rare incidence. -MONDO:0019049 definition Rare dystonia. OBSOLETE. Rare dystonia. -MONDO:0019059 definition Rare parkinsonian disorder. OBSOLETE. Rare parkinsonian disorder. -MONDO:0019062 definition Rare infectious disease. OBSOLETE. Rare infectious disease. -MONDO:0020015 definition A rare form of cardiovascular disease. OBSOLETE. A rare form of cardiovascular disease. -MONDO:0019096 definition Rare pulmonary hypertension. OBSOLETE. Rare pulmonary hypertension. -MONDO:0019097 definition A hemorrhagic disorder due to a platelet anomaly which occurs from birth. OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which occurs from birth. -MONDO:0019099 definition Any of the forms of soft tissue neoplasm that have a rare incidence. OBSOLETE. Any of the forms of soft tissue neoplasm that have a rare incidence. -MONDO:0019116 definition Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas). OBSOLETE. Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas). -MONDO:0019167 definition SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement. A systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement. -MONDO:0019174 definition Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD). OBSOLETE. Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD). -MONDO:0019298 definition Rare urticaria. OBSOLETE. Rare urticaria. -MONDO:0019348 definition Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva. OBSOLETE. Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva. -MONDO:0019491 definition Rare intellectual disability. OBSOLETE. Rare intellectual disability. -MONDO:0019515 definition Rare dementia. OBSOLETE. Rare dementia. -MONDO:0019519 definition Rare skin disease. OBSOLETE. Rare skin disease. MONDO:0030502 definition A chromosomal anomaly consisting of the presence of two chromosomes of the same type in addition to the normal diploid number. A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number. -MONDO:0019592 definition In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included. OBSOLETE. In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included. MONDO:0019683 definition Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly. -MONDO:0019684 definition Rare bone disease. OBSOLETE. Rare bone disease. -MONDO:0019749 definition Any of the forms of kidney neoplasm that have a rare incidence. OBSOLETE. Any of the forms of kidney neoplasm that have a rare incidence. -MONDO:0019750 definition Any of the forms of urinary system disease that have a rare incidence. OBSOLETE. Any of the forms of urinary system disease that have a rare incidence. -MONDO:0019853 definition Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. OBSOLETE. Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. -MONDO:0019856 definition Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal. OBSOLETE. Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal. -MONDO:0019965 definition Any of the forms of ovarian benign neoplasm that have a rare incidence. OBSOLETE. Any of the forms of ovarian benign neoplasm that have a rare incidence. -MONDO:0019984 definition 'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS) is an acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).' An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects). -MONDO:0019996 definition Rare heart disease. OBSOLETE. Rare heart disease. -MONDO:0020000 definition Rare respiratory system disease. OBSOLETE. Rare respiratory system disease. -MONDO:0020004 definition Rare eye disease. OBSOLETE. Rare eye disease. -MONDO:0020005 definition Rare endocrine system disease. OBSOLETE. Rare endocrine system disease. -MONDO:0020008 definition Rare immune system disease. OBSOLETE. Rare immune system disease. -MONDO:0020009 definition Rare nervous system disease. OBSOLETE. Rare nervous system disease. -MONDO:0020011 definition Rare headache disorder. OBSOLETE. Rare headache disorder. -MONDO:0020017 definition Any of the forms of otorhinolaryngologic disease that have a rare incidence. OBSOLETE. Any of the forms of otorhinolaryngologic disease that have a rare incidence. -MONDO:0020024 definition Rare infertility. OBSOLETE. Rare infertility. -MONDO:0020025 definition Rare male infertility. OBSOLETE. Rare male infertility. -MONDO:0020026 definition Rare female infertility. OBSOLETE. Rare female infertility. -MONDO:0020027 definition Rare allergic hypersensitivity disease. OBSOLETE. Rare allergic hypersensitivity disease. -MONDO:0020028 definition Rare respiratory allergy. OBSOLETE. Rare respiratory allergy. -MONDO:0020029 definition Rare genetic heart disease. OBSOLETE. Rare genetic heart disease. -MONDO:0020031 definition Rare disease of cellular proliferation. OBSOLETE. Rare disease of cellular proliferation. -MONDO:0020032 definition Rare urinary system benign neoplasm. OBSOLETE. Rare urinary system benign neoplasm. -MONDO:0020033 definition Any of the forms of digestive system neoplasm that have a rare incidence. OBSOLETE. Any of the forms of digestive system neoplasm that have a rare incidence. -MONDO:0020034 definition Any of the forms of respiratory tract neoplasm that have a rare incidence. OBSOLETE. Any of the forms of respiratory tract neoplasm that have a rare incidence. -MONDO:0020036 definition Rare nervous system cancer. OBSOLETE. Rare nervous system cancer. -MONDO:0020037 definition Rare female reproductive system neoplasm. OBSOLETE. Rare female reproductive system neoplasm. -MONDO:0020050 definition A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. -MONDO:0020078 definition A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001) OBSOLETE. A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001) -MONDO:0020094 definition Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature. OBSOLETE. Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature. -MONDO:0020095 definition Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature. OBSOLETE. Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature. -MONDO:0020097 definition Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature. OBSOLETE. Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature. -MONDO:0020100 definition Rare hemolytic anemia. OBSOLETE. Rare hemolytic anemia. -MONDO:0020101 definition A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. OBSOLETE. A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. -MONDO:0020116 definition Any of the forms of blood coagulation disease that have a rare incidence. OBSOLETE. Any of the forms of blood coagulation disease that have a rare incidence. -MONDO:0020126 definition Rare peripheral neuropathy. OBSOLETE. Rare peripheral neuropathy. -MONDO:0020151 definition Any of the forms of eyelid disease that have a rare incidence. OBSOLETE. Any of the forms of eyelid disease that have a rare incidence. -MONDO:0020192 definition Any of the forms of lacrimal apparatus disease that have a rare incidence. OBSOLETE. Any of the forms of lacrimal apparatus disease that have a rare incidence. -MONDO:0020198 definition Rare conjunctival disease. OBSOLETE. Rare conjunctival disease. -MONDO:0020207 definition Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness. OBSOLETE. Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness. -MONDO:0020224 definition Rare cataract. OBSOLETE. Rare cataract. -MONDO:0020269 definition A ichthyosis associated with ocular features that is part of a larger syndrome. OBSOLETE. A ichthyosis associated with ocular features that is part of a larger syndrome. -MONDO:0020315 definition Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance. OBSOLETE. Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance. -MONDO:0020578 definition Abnormally low level of 25-hydroxyvitamin D in the blood. OBSOLETE. Abnormally low level of 25-hydroxyvitamin D in the blood. -MONDO:0020802 definition A neoplasm composed of basal cells that metastasizes to other anatomic sites. OBSOLETE. A neoplasm composed of basal cells that metastasizes to other anatomic sites. -MONDO:0020803 definition A defect of the bundle branches or fascicles in the electrical conduction system of the heart. OBSOLETE. A defect of the bundle branches or fascicles in the electrical conduction system of the heart. -MONDO:0020842 definition Medullary carcinoma may refer to one of several different tumors of epithelial origin. As the term 'medulla' is a generic anatomic descriptor for the mid-layer of various organ tissues, a medullary tumor usually arises from the 'mid-layer tissues' of the relevant organ. OBSOLETE. Medullary carcinoma may refer to one of several different tumors of epithelial origin. As the term 'medulla' is a generic anatomic descriptor for the mid-layer of various organ tissues, a medullary tumor usually arises from the 'mid-layer tissues' of the relevant organ. -MONDO:0021037 definition An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome. OBSOLETE. An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome. -MONDO:0021044 definition An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. OBSOLETE. An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. MONDO:0021059 definition Any disease or disorder affecting the head and/or neck region. OBSOLETE. Any disease or disorder affecting the head and/or neck region. -MONDO:0021103 definition Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494) OBSOLETE. Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494) -MONDO:0021194 definition A grouping of diseases based on molecular activity, cellular process or subcellular component. OBSOLETE. A grouping of diseases based on molecular activity, cellular process or subcellular component. -MONDO:0021200 definition Any of the forms of disease that have a rare incidence. OBSOLETE. Any of the forms of disease that have a rare incidence. -MONDO:0021665 definition A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy. OBSOLETE. A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy. MONDO:0022794 definition A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8. OBSOLETE. A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8. -MONDO:0022918 definition A disease that has its basis in the disruption of cytokine activity. OBSOLETE. A disease that has its basis in the disruption of cytokine activity. -MONDO:0023873 definition Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure. OBSOLETE. Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure. -MONDO:0024236 definition A disorder characterized by the progressive loss of function and/or structure of the affected tissues. OBSOLETE. A disorder characterized by the progressive loss of function and/or structure of the affected tissues. -MONDO:0024248 definition A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed) OBSOLETE. A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed) -MONDO:0024297 definition A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. OBSOLETE. A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. -MONDO:0024505 definition A broad grouping of diseases based on major body subdivisions. OBSOLETE. A broad grouping of diseases based on major body subdivisions. -MONDO:0024583 definition The protrusion of part of an organ or fibroadipose tissue through an abnormal opening. OBSOLETE. The protrusion of part of an organ or fibroadipose tissue through an abnormal opening. -MONDO:0024624 definition A degenerative disorder that involves the lacrimal gland. OBSOLETE. A degenerative disorder that involves the lacrimal gland. -MONDO:0025517 definition A allergic disease involving a shrimp food product. OBSOLETE. A allergic disease involving a shrimp food product. -MONDO:0025518 definition A allergic disease involving a acetylsalicylic acid. OBSOLETE. A allergic disease involving a acetylsalicylic acid. -MONDO:0029001 definition Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides. OBSOLETE. Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides. -MONDO:0036491 definition An infrequent malignant neoplasm that occurs during childhood. OBSOLETE. An infrequent malignant neoplasm that occurs during childhood. -MONDO:0040797 definition An outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS). OBSOLETE. An outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS). -MONDO:0043606 definition A traumatic break in an area of bone that has been weakened by another disease process. OBSOLETE. A traumatic break in an area of bone that has been weakened by another disease process. -MONDO:0043881 definition A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001) OBSOLETE. A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001) -MONDO:0044219 definition The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)}). OBSOLETE. The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)}). -MONDO:0044228 definition Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002}). OBSOLETE. Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002}). -MONDO:0044236 definition More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010}). OBSOLETE. More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010}). -MONDO:0044240 definition Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009}). OBSOLETE. Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009}). -MONDO:0044246 definition Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976}). OBSOLETE. Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976}). -MONDO:0044248 definition The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995}). OBSOLETE. The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995}). -MONDO:0044255 definition Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501). OBSOLETE. Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501). -MONDO:0044257 definition Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported. OBSOLETE. Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported. -MONDO:0044259 definition Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action. OBSOLETE. Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action. -MONDO:0044263 definition An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420. OBSOLETE. An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420. -MONDO:0044266 definition Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage. OBSOLETE. Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage. -MONDO:0044269 definition Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related. OBSOLETE. Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related. -MONDO:0044274 definition Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014}). OBSOLETE. Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014}). -MONDO:0044278 definition In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset. OBSOLETE. In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset. -MONDO:0044281 definition Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010}). OBSOLETE. Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010}). -MONDO:0044282 definition The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013}). OBSOLETE. The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013}). -MONDO:0044284 definition The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010}). OBSOLETE. The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010}). MONDO:0044965 definition A disease or disorder that involves the abdominal segment of trunk. OBSOLETE. A disease or disorder that involves the abdominal segment of trunk. MONDO:0044967 definition A disease or disorder that involves the limb. OBSOLETE. A disease or disorder that involves the limb. MONDO:0044988 definition A disease or disorder that involves the hip. OBSOLETE. A disease or disorder that involves the hip. -MONDO:0045028 definition A disease or disorder that is induced by either chemical or radiation exposure. OBSOLETE. A disease or disorder that is induced by either chemical or radiation exposure. -MONDO:0100106 definition A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death. OBSOLETE. A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death. -MONDO:0100139 definition A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease. OBSOLETE. A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease. -MONDO:0100140 definition A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging. OBSOLETE. A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging. -MONDO:0100141 definition A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level. OBSOLETE. A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level. -MONDO:0100142 definition A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%. OBSOLETE. A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%. -MONDO:0100143 definition A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction. OBSOLETE. A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction. -MONDO:0100145 definition A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms when they first test positive, but develop symptoms later on. OBSOLETE. A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms when they first test positive, but develop symptoms later on. -MONDO:0100229 definition A peroxisoome biogenesis disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes. OBSOLETE. A peroxisoome biogenesis disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes. -MONDO:0006600 obsoletion_candidate True -MONDO:0020247 obsoletion_candidate True -MONDO:0019708 obsoletion_candidate True MONDO:0000651 obsoletion_candidate True -MONDO:0004553 obsoletion_candidate True -MONDO:0003127 obsoletion_candidate True -MONDO:0021191 obsoletion_candidate True -MONDO:0004771 obsoletion_candidate True -MONDO:0005992 obsoletion_candidate True -MONDO:0006147 obsoletion_candidate True -MONDO:0006251 obsoletion_candidate True -MONDO:0006584 obsoletion_candidate True +MONDO:0020591 obsoletion_candidate True +MONDO:0003804 obsoletion_candidate True +MONDO:0005042 obsoletion_candidate True +MONDO:0044990 obsoletion_candidate True +MONDO:0044989 obsoletion_candidate True +MONDO:0043707 obsoletion_candidate True +MONDO:0004955 obsoletion_candidate True +MONDO:0015879 obsoletion_candidate True MONDO:0006588 obsoletion_candidate True -MONDO:0018627 obsoletion_candidate True -MONDO:0006785 obsoletion_candidate True -MONDO:0020248 obsoletion_candidate True -MONDO:0015501 obsoletion_candidate True -MONDO:0018232 obsoletion_candidate True -MONDO:0016436 obsoletion_candidate True -MONDO:0007061 obsoletion_candidate True MONDO:0007139 obsoletion_candidate True MONDO:0007141 obsoletion_candidate True -MONDO:0019700 obsoletion_candidate True -MONDO:0015657 obsoletion_candidate True -MONDO:0017370 obsoletion_candidate True -MONDO:0019703 obsoletion_candidate True MONDO:0007317 obsoletion_candidate True MONDO:0007331 obsoletion_candidate True -MONDO:0020226 obsoletion_candidate True -MONDO:0019704 obsoletion_candidate True +MONDO:0015880 obsoletion_candidate True MONDO:0007532 obsoletion_candidate True -MONDO:0015551 obsoletion_candidate True MONDO:0007591 obsoletion_candidate True -MONDO:0018231 obsoletion_candidate True MONDO:0007622 obsoletion_candidate True MONDO:0007645 obsoletion_candidate True -MONDO:0020218 obsoletion_candidate True MONDO:0007692 obsoletion_candidate True -MONDO:0007780 obsoletion_candidate True -MONDO:0019305 obsoletion_candidate True MONDO:0007822 obsoletion_candidate True MONDO:0007823 obsoletion_candidate True -MONDO:0017311 obsoletion_candidate True -MONDO:0008042 obsoletion_candidate True MONDO:0008068 obsoletion_candidate True MONDO:0008110 obsoletion_candidate True -MONDO:0018790 obsoletion_candidate True MONDO:0008326 obsoletion_candidate True -MONDO:0008345 obsoletion_candidate True MONDO:0008351 obsoletion_candidate True MONDO:0008405 obsoletion_candidate True -MONDO:0015218 obsoletion_candidate True -MONDO:0015220 obsoletion_candidate True -MONDO:0019827 obsoletion_candidate True MONDO:0008432 obsoletion_candidate True -MONDO:0015651 obsoletion_candidate True MONDO:0008548 obsoletion_candidate True -MONDO:0019341 obsoletion_candidate True MONDO:0008616 obsoletion_candidate True MONDO:0008625 obsoletion_candidate True MONDO:0008677 obsoletion_candidate True -MONDO:0016337 obsoletion_candidate True MONDO:0008791 obsoletion_candidate True -MONDO:0008852 obsoletion_candidate True -MONDO:0008856 obsoletion_candidate True -MONDO:0008940 obsoletion_candidate True -MONDO:0008942 obsoletion_candidate True -MONDO:0017118 obsoletion_candidate True -MONDO:0009096 obsoletion_candidate True MONDO:0009125 obsoletion_candidate True MONDO:0009250 obsoletion_candidate True -MONDO:0017035 obsoletion_candidate True -MONDO:0009316 obsoletion_candidate True -MONDO:0015329 obsoletion_candidate True -MONDO:0019705 obsoletion_candidate True MONDO:0009553 obsoletion_candidate True +MONDO:0021016 obsoletion_candidate True MONDO:0009829 obsoletion_candidate True -MONDO:0015945 obsoletion_candidate True MONDO:0009930 obsoletion_candidate True -MONDO:0015336 obsoletion_candidate True -MONDO:0017272 obsoletion_candidate True -MONDO:0020228 obsoletion_candidate True -MONDO:0020281 obsoletion_candidate True -MONDO:0017432 obsoletion_candidate True -MONDO:0020232 obsoletion_candidate True -MONDO:0016399 obsoletion_candidate True -MONDO:0010113 obsoletion_candidate True -MONDO:0016402 obsoletion_candidate True -MONDO:0016403 obsoletion_candidate True -MONDO:0015920 obsoletion_candidate True -MONDO:0016326 obsoletion_candidate True -MONDO:0019301 obsoletion_candidate True -MONDO:0019706 obsoletion_candidate True MONDO:0010705 obsoletion_candidate True -MONDO:0010783 obsoletion_candidate True -MONDO:0015188 obsoletion_candidate True -MONDO:0015895 obsoletion_candidate True -MONDO:0016792 obsoletion_candidate True MONDO:0010994 obsoletion_candidate True -MONDO:0011111 obsoletion_candidate True -MONDO:0011140 obsoletion_candidate True -MONDO:0017271 obsoletion_candidate True -MONDO:0011319 obsoletion_candidate True -MONDO:0020220 obsoletion_candidate True -MONDO:0017021 obsoletion_candidate True -MONDO:0015877 obsoletion_candidate True MONDO:0011554 obsoletion_candidate True -MONDO:0018558 obsoletion_candidate True -MONDO:0018718 obsoletion_candidate True -MONDO:0020182 obsoletion_candidate True MONDO:0011692 obsoletion_candidate True -MONDO:0011707 obsoletion_candidate True -MONDO:0012501 obsoletion_candidate True -MONDO:0015659 obsoletion_candidate True -MONDO:0019066 obsoletion_candidate True -MONDO:0015655 obsoletion_candidate True +MONDO:0019664 obsoletion_candidate True MONDO:0013538 obsoletion_candidate True MONDO:0013586 obsoletion_candidate True -MONDO:0013617 obsoletion_candidate True -MONDO:0013733 obsoletion_candidate True MONDO:0013799 obsoletion_candidate True MONDO:0014053 obsoletion_candidate True -MONDO:0016334 obsoletion_candidate True -MONDO:0014616 obsoletion_candidate True -MONDO:0017020 obsoletion_candidate True +MONDO:0014129 obsoletion_candidate True +MONDO:0014253 obsoletion_candidate True MONDO:0014826 obsoletion_candidate True -MONDO:0015052 obsoletion_candidate True -MONDO:0015081 obsoletion_candidate True -MONDO:0020266 obsoletion_candidate True -MONDO:0015136 obsoletion_candidate True +MONDO:0020051 obsoletion_candidate True MONDO:0015153 obsoletion_candidate True -MONDO:0015181 obsoletion_candidate True -MONDO:0020138 obsoletion_candidate True -MONDO:0015331 obsoletion_candidate True -MONDO:0015495 obsoletion_candidate True -MONDO:0017641 obsoletion_candidate True -MONDO:0017662 obsoletion_candidate True -MONDO:0015572 obsoletion_candidate True -MONDO:0015581 obsoletion_candidate True -MONDO:0015654 obsoletion_candidate True -MONDO:0015656 obsoletion_candidate True -MONDO:0015658 obsoletion_candidate True -MONDO:0015709 obsoletion_candidate True -MONDO:0015710 obsoletion_candidate True -MONDO:0015711 obsoletion_candidate True -MONDO:0018035 obsoletion_candidate True -MONDO:0020063 obsoletion_candidate True -MONDO:0015789 obsoletion_candidate True -MONDO:0015825 obsoletion_candidate True -MONDO:0015919 obsoletion_candidate True -MONDO:0015922 obsoletion_candidate True -MONDO:0015928 obsoletion_candidate True -MONDO:0016177 obsoletion_candidate True -MONDO:0017952 obsoletion_candidate True -MONDO:0020253 obsoletion_candidate True -MONDO:0016036 obsoletion_candidate True -MONDO:0016050 obsoletion_candidate True -MONDO:0016104 obsoletion_candidate True -MONDO:0016136 obsoletion_candidate True -MONDO:0016137 obsoletion_candidate True -MONDO:0016178 obsoletion_candidate True -MONDO:0016180 obsoletion_candidate True -MONDO:0016181 obsoletion_candidate True -MONDO:0016235 obsoletion_candidate True -MONDO:0016325 obsoletion_candidate True -MONDO:0016327 obsoletion_candidate True -MONDO:0016328 obsoletion_candidate True -MONDO:0016335 obsoletion_candidate True -MONDO:0016336 obsoletion_candidate True -MONDO:0016341 obsoletion_candidate True -MONDO:0020280 obsoletion_candidate True -MONDO:0016397 obsoletion_candidate True -MONDO:0016398 obsoletion_candidate True -MONDO:0016400 obsoletion_candidate True -MONDO:0016401 obsoletion_candidate True -MONDO:0016405 obsoletion_candidate True -MONDO:0016435 obsoletion_candidate True -MONDO:0016488 obsoletion_candidate True -MONDO:0016492 obsoletion_candidate True -MONDO:0018395 obsoletion_candidate True -MONDO:0016578 obsoletion_candidate True -MONDO:0016626 obsoletion_candidate True -MONDO:0016628 obsoletion_candidate True -MONDO:0016704 obsoletion_candidate True -MONDO:0016754 obsoletion_candidate True -MONDO:0016791 obsoletion_candidate True -MONDO:0016793 obsoletion_candidate True -MONDO:0016795 obsoletion_candidate True -MONDO:0016799 obsoletion_candidate True +MONDO:0020052 obsoletion_candidate True MONDO:0016946 obsoletion_candidate True MONDO:0016962 obsoletion_candidate True MONDO:0016963 obsoletion_candidate True @@ -926,96 +160,10 @@ MONDO:0017002 obsoletion_candidate True MONDO:0017005 obsoletion_candidate True MONDO:0017006 obsoletion_candidate True MONDO:0017011 obsoletion_candidate True -MONDO:0017016 obsoletion_candidate True -MONDO:0017017 obsoletion_candidate True -MONDO:0017022 obsoletion_candidate True -MONDO:0017023 obsoletion_candidate True -MONDO:0017024 obsoletion_candidate True -MONDO:0017028 obsoletion_candidate True -MONDO:0017032 obsoletion_candidate True -MONDO:0017033 obsoletion_candidate True -MONDO:0017037 obsoletion_candidate True -MONDO:0017038 obsoletion_candidate True -MONDO:0017119 obsoletion_candidate True -MONDO:0017121 obsoletion_candidate True -MONDO:0017150 obsoletion_candidate True -MONDO:0017151 obsoletion_candidate True -MONDO:0017152 obsoletion_candidate True -MONDO:0017153 obsoletion_candidate True -MONDO:0017154 obsoletion_candidate True -MONDO:0017155 obsoletion_candidate True -MONDO:0017156 obsoletion_candidate True -MONDO:0017158 obsoletion_candidate True -MONDO:0017163 obsoletion_candidate True -MONDO:0017273 obsoletion_candidate True -MONDO:0017333 obsoletion_candidate True -MONDO:0017369 obsoletion_candidate True -MONDO:0017390 obsoletion_candidate True MONDO:0017412 obsoletion_candidate True -MONDO:0017434 obsoletion_candidate True -MONDO:0017635 obsoletion_candidate True -MONDO:0017643 obsoletion_candidate True -MONDO:0017646 obsoletion_candidate True -MONDO:0017647 obsoletion_candidate True -MONDO:0017693 obsoletion_candidate True -MONDO:0017717 obsoletion_candidate True -MONDO:0017718 obsoletion_candidate True -MONDO:0017841 obsoletion_candidate True -MONDO:0017897 obsoletion_candidate True -MONDO:0017898 obsoletion_candidate True -MONDO:0017899 obsoletion_candidate True -MONDO:0017956 obsoletion_candidate True -MONDO:0017965 obsoletion_candidate True -MONDO:0017970 obsoletion_candidate True -MONDO:0017971 obsoletion_candidate True -MONDO:0018118 obsoletion_candidate True -MONDO:0018036 obsoletion_candidate True -MONDO:0018042 obsoletion_candidate True -MONDO:0020276 obsoletion_candidate True -MONDO:0018119 obsoletion_candidate True -MONDO:0018120 obsoletion_candidate True -MONDO:0018132 obsoletion_candidate True -MONDO:0018157 obsoletion_candidate True +MONDO:0018138 obsoletion_candidate True MONDO:0018186 obsoletion_candidate True -MONDO:0018251 obsoletion_candidate True -MONDO:0018284 obsoletion_candidate True -MONDO:0018288 obsoletion_candidate True -MONDO:0018289 obsoletion_candidate True -MONDO:0018291 obsoletion_candidate True -MONDO:0018293 obsoletion_candidate True -MONDO:0018296 obsoletion_candidate True -MONDO:0018335 obsoletion_candidate True -MONDO:0018389 obsoletion_candidate True -MONDO:0018390 obsoletion_candidate True -MONDO:0018391 obsoletion_candidate True -MONDO:0018392 obsoletion_candidate True -MONDO:0018398 obsoletion_candidate True -MONDO:0018402 obsoletion_candidate True -MONDO:0018403 obsoletion_candidate True -MONDO:0018407 obsoletion_candidate True -MONDO:0018414 obsoletion_candidate True -MONDO:0018444 obsoletion_candidate True -MONDO:0018549 obsoletion_candidate True -MONDO:0018618 obsoletion_candidate True -MONDO:0018727 obsoletion_candidate True -MONDO:0018750 obsoletion_candidate True -MONDO:0018789 obsoletion_candidate True -MONDO:0020229 obsoletion_candidate True -MONDO:0019511 obsoletion_candidate True -MONDO:0019594 obsoletion_candidate True -MONDO:0019595 obsoletion_candidate True -MONDO:0019596 obsoletion_candidate True MONDO:0019683 obsoletion_candidate True -MONDO:0019715 obsoletion_candidate True -MONDO:0019717 obsoletion_candidate True -MONDO:0019747 obsoletion_candidate True -MONDO:0019774 obsoletion_candidate True -MONDO:0019853 obsoletion_candidate True -MONDO:0019856 obsoletion_candidate True -MONDO:0019859 obsoletion_candidate True -MONDO:0020041 obsoletion_candidate True -MONDO:0020042 obsoletion_candidate True -MONDO:0020045 obsoletion_candidate True MONDO:0020050 obsoletion_candidate True MONDO:0020053 obsoletion_candidate True MONDO:0020054 obsoletion_candidate True @@ -1026,217 +174,57 @@ MONDO:0020059 obsoletion_candidate True MONDO:0020060 obsoletion_candidate True MONDO:0020061 obsoletion_candidate True MONDO:0020062 obsoletion_candidate True -MONDO:0020078 obsoletion_candidate True -MONDO:0020090 obsoletion_candidate True -MONDO:0020091 obsoletion_candidate True -MONDO:0020098 obsoletion_candidate True -MONDO:0020101 obsoletion_candidate True -MONDO:0020103 obsoletion_candidate True -MONDO:0020105 obsoletion_candidate True -MONDO:0020106 obsoletion_candidate True -MONDO:0020107 obsoletion_candidate True -MONDO:0020109 obsoletion_candidate True -MONDO:0020111 obsoletion_candidate True -MONDO:0020137 obsoletion_candidate True -MONDO:0020142 obsoletion_candidate True -MONDO:0020217 obsoletion_candidate True -MONDO:0020230 obsoletion_candidate True -MONDO:0020231 obsoletion_candidate True -MONDO:0020233 obsoletion_candidate True -MONDO:0020259 obsoletion_candidate True -MONDO:0020265 obsoletion_candidate True -MONDO:0020267 obsoletion_candidate True -MONDO:0020270 obsoletion_candidate True -MONDO:0020273 obsoletion_candidate True -MONDO:0020274 obsoletion_candidate True -MONDO:0020278 obsoletion_candidate True -MONDO:0020279 obsoletion_candidate True -MONDO:0020282 obsoletion_candidate True -MONDO:0020312 obsoletion_candidate True -MONDO:0020358 obsoletion_candidate True -MONDO:0020670 obsoletion_candidate True +MONDO:0020595 obsoletion_candidate True MONDO:0020734 obsoletion_candidate True MONDO:0021059 obsoletion_candidate True -MONDO:0021421 obsoletion_candidate True MONDO:0022109 obsoletion_candidate True -MONDO:0022556 obsoletion_candidate True -MONDO:0022916 obsoletion_candidate True -MONDO:0022926 obsoletion_candidate True -MONDO:0023000 obsoletion_candidate True -MONDO:0024348 obsoletion_candidate True MONDO:0026768 obsoletion_candidate True -MONDO:0027750 obsoletion_candidate True -MONDO:0027751 obsoletion_candidate True MONDO:0030032 obsoletion_candidate True -MONDO:0032647 obsoletion_candidate True MONDO:0033552 obsoletion_candidate True -MONDO:0033967 obsoletion_candidate True -MONDO:0042908 obsoletion_candidate True -MONDO:0044354 obsoletion_candidate True -MONDO:0044684 obsoletion_candidate True MONDO:0044965 obsoletion_candidate True MONDO:0044967 obsoletion_candidate True MONDO:0044978 obsoletion_candidate True MONDO:0044988 obsoletion_candidate True -MONDO:0056821 obsoletion_candidate True MONDO:0060593 obsoletion_candidate True -MONDO:0100461 obsoletion_candidate True -MONDO:0019708 obsolete True MONDO:0000651 obsolete True -MONDO:0003127 obsolete True -MONDO:0006251 obsolete True MONDO:0006588 obsolete True -MONDO:0018627 obsolete True -MONDO:0006785 obsolete True -MONDO:0015501 obsolete True -MONDO:0018232 obsolete True -MONDO:0016436 obsolete True MONDO:0007139 obsolete True MONDO:0007141 obsolete True -MONDO:0019700 obsolete True -MONDO:0015657 obsolete True -MONDO:0017370 obsolete True -MONDO:0019703 obsolete True MONDO:0007317 obsolete True MONDO:0007331 obsolete True -MONDO:0020226 obsolete True -MONDO:0019704 obsolete True MONDO:0007532 obsolete True MONDO:0007591 obsolete True -MONDO:0018231 obsolete True MONDO:0007622 obsolete True MONDO:0007645 obsolete True MONDO:0007692 obsolete True -MONDO:0019305 obsolete True MONDO:0007822 obsolete True MONDO:0007823 obsolete True -MONDO:0017311 obsolete True MONDO:0008068 obsolete True MONDO:0008110 obsolete True -MONDO:0018790 obsolete True MONDO:0008326 obsolete True MONDO:0008351 obsolete True MONDO:0008405 obsolete True -MONDO:0015218 obsolete True -MONDO:0015220 obsolete True -MONDO:0019827 obsolete True MONDO:0008432 obsolete True -MONDO:0015651 obsolete True MONDO:0008548 obsolete True MONDO:0008616 obsolete True MONDO:0008625 obsolete True MONDO:0008677 obsolete True -MONDO:0016337 obsolete True -MONDO:0017118 obsolete True MONDO:0009125 obsolete True MONDO:0009250 obsolete True -MONDO:0017035 obsolete True -MONDO:0015329 obsolete True -MONDO:0019705 obsolete True MONDO:0009553 obsolete True MONDO:0009829 obsolete True -MONDO:0015945 obsolete True MONDO:0009930 obsolete True -MONDO:0015336 obsolete True -MONDO:0017272 obsolete True -MONDO:0020228 obsolete True -MONDO:0020281 obsolete True -MONDO:0017432 obsolete True -MONDO:0020232 obsolete True -MONDO:0016399 obsolete True -MONDO:0016402 obsolete True -MONDO:0016403 obsolete True -MONDO:0015920 obsolete True -MONDO:0016326 obsolete True -MONDO:0019301 obsolete True -MONDO:0019706 obsolete True MONDO:0010705 obsolete True -MONDO:0015188 obsolete True -MONDO:0015895 obsolete True -MONDO:0016792 obsolete True MONDO:0010994 obsolete True -MONDO:0011140 obsolete True -MONDO:0017271 obsolete True -MONDO:0017021 obsolete True -MONDO:0015877 obsolete True MONDO:0011554 obsolete True -MONDO:0018558 obsolete True -MONDO:0018718 obsolete True -MONDO:0020182 obsolete True MONDO:0011692 obsolete True -MONDO:0012501 obsolete True -MONDO:0015659 obsolete True -MONDO:0019066 obsolete True -MONDO:0015655 obsolete True MONDO:0013538 obsolete True MONDO:0013586 obsolete True -MONDO:0013617 obsolete True MONDO:0013799 obsolete True MONDO:0014053 obsolete True -MONDO:0016334 obsolete True -MONDO:0017020 obsolete True +MONDO:0014253 obsolete True MONDO:0014826 obsolete True -MONDO:0015052 obsolete True -MONDO:0015081 obsolete True -MONDO:0020266 obsolete True -MONDO:0015136 obsolete True MONDO:0015153 obsolete True -MONDO:0015181 obsolete True -MONDO:0020138 obsolete True -MONDO:0015331 obsolete True -MONDO:0015495 obsolete True -MONDO:0017641 obsolete True -MONDO:0017662 obsolete True -MONDO:0015572 obsolete True -MONDO:0015581 obsolete True -MONDO:0015654 obsolete True -MONDO:0015656 obsolete True -MONDO:0015658 obsolete True -MONDO:0015709 obsolete True -MONDO:0015710 obsolete True -MONDO:0015711 obsolete True -MONDO:0018035 obsolete True -MONDO:0020063 obsolete True -MONDO:0015789 obsolete True -MONDO:0015825 obsolete True -MONDO:0015919 obsolete True -MONDO:0015922 obsolete True -MONDO:0015928 obsolete True -MONDO:0016177 obsolete True -MONDO:0017952 obsolete True -MONDO:0020253 obsolete True -MONDO:0016050 obsolete True -MONDO:0016104 obsolete True -MONDO:0016136 obsolete True -MONDO:0016137 obsolete True -MONDO:0016178 obsolete True -MONDO:0016180 obsolete True -MONDO:0016181 obsolete True -MONDO:0016235 obsolete True -MONDO:0016325 obsolete True -MONDO:0016327 obsolete True -MONDO:0016328 obsolete True -MONDO:0016335 obsolete True -MONDO:0016336 obsolete True -MONDO:0016341 obsolete True -MONDO:0020280 obsolete True -MONDO:0016397 obsolete True -MONDO:0016398 obsolete True -MONDO:0016400 obsolete True -MONDO:0016401 obsolete True -MONDO:0016405 obsolete True -MONDO:0016435 obsolete True -MONDO:0016488 obsolete True -MONDO:0016492 obsolete True -MONDO:0018395 obsolete True -MONDO:0016578 obsolete True -MONDO:0016628 obsolete True -MONDO:0016704 obsolete True -MONDO:0016754 obsolete True -MONDO:0016791 obsolete True -MONDO:0016793 obsolete True -MONDO:0016795 obsolete True -MONDO:0016799 obsolete True MONDO:0016946 obsolete True MONDO:0016962 obsolete True MONDO:0016963 obsolete True @@ -1246,95 +234,9 @@ MONDO:0017002 obsolete True MONDO:0017005 obsolete True MONDO:0017006 obsolete True MONDO:0017011 obsolete True -MONDO:0017016 obsolete True -MONDO:0017017 obsolete True -MONDO:0017022 obsolete True -MONDO:0017023 obsolete True -MONDO:0017024 obsolete True -MONDO:0017028 obsolete True -MONDO:0017032 obsolete True -MONDO:0017033 obsolete True -MONDO:0017037 obsolete True -MONDO:0017038 obsolete True -MONDO:0017119 obsolete True -MONDO:0017121 obsolete True -MONDO:0017150 obsolete True -MONDO:0017151 obsolete True -MONDO:0017152 obsolete True -MONDO:0017153 obsolete True -MONDO:0017154 obsolete True -MONDO:0017155 obsolete True -MONDO:0017156 obsolete True -MONDO:0017158 obsolete True -MONDO:0017163 obsolete True -MONDO:0017273 obsolete True -MONDO:0017333 obsolete True -MONDO:0017369 obsolete True -MONDO:0017390 obsolete True MONDO:0017412 obsolete True -MONDO:0017434 obsolete True -MONDO:0017635 obsolete True -MONDO:0017643 obsolete True -MONDO:0017646 obsolete True -MONDO:0017647 obsolete True -MONDO:0017693 obsolete True -MONDO:0017717 obsolete True -MONDO:0017718 obsolete True -MONDO:0017841 obsolete True -MONDO:0017897 obsolete True -MONDO:0017898 obsolete True -MONDO:0017899 obsolete True -MONDO:0017956 obsolete True -MONDO:0017965 obsolete True -MONDO:0017970 obsolete True -MONDO:0017971 obsolete True -MONDO:0018118 obsolete True -MONDO:0018036 obsolete True -MONDO:0018042 obsolete True -MONDO:0020276 obsolete True -MONDO:0018119 obsolete True -MONDO:0018120 obsolete True -MONDO:0018132 obsolete True -MONDO:0018157 obsolete True MONDO:0018186 obsolete True -MONDO:0018251 obsolete True -MONDO:0018284 obsolete True -MONDO:0018288 obsolete True -MONDO:0018289 obsolete True -MONDO:0018291 obsolete True -MONDO:0018293 obsolete True -MONDO:0018296 obsolete True -MONDO:0018335 obsolete True -MONDO:0018389 obsolete True -MONDO:0018390 obsolete True -MONDO:0018391 obsolete True -MONDO:0018392 obsolete True -MONDO:0018398 obsolete True -MONDO:0018402 obsolete True -MONDO:0018403 obsolete True -MONDO:0018407 obsolete True -MONDO:0018414 obsolete True -MONDO:0018444 obsolete True -MONDO:0018549 obsolete True -MONDO:0018618 obsolete True -MONDO:0018649 obsolete True -MONDO:0018727 obsolete True -MONDO:0018750 obsolete True -MONDO:0018789 obsolete True -MONDO:0020229 obsolete True -MONDO:0019594 obsolete True -MONDO:0019595 obsolete True -MONDO:0019596 obsolete True MONDO:0019683 obsolete True -MONDO:0019715 obsolete True -MONDO:0019717 obsolete True -MONDO:0019747 obsolete True -MONDO:0019853 obsolete True -MONDO:0019856 obsolete True -MONDO:0019859 obsolete True -MONDO:0020041 obsolete True -MONDO:0020042 obsolete True -MONDO:0020045 obsolete True MONDO:0020050 obsolete True MONDO:0020053 obsolete True MONDO:0020054 obsolete True @@ -1345,44 +247,13 @@ MONDO:0020059 obsolete True MONDO:0020060 obsolete True MONDO:0020061 obsolete True MONDO:0020062 obsolete True -MONDO:0020078 obsolete True -MONDO:0020090 obsolete True -MONDO:0020091 obsolete True -MONDO:0020098 obsolete True -MONDO:0020101 obsolete True -MONDO:0020103 obsolete True -MONDO:0020105 obsolete True -MONDO:0020106 obsolete True -MONDO:0020107 obsolete True -MONDO:0020109 obsolete True -MONDO:0020111 obsolete True -MONDO:0020137 obsolete True -MONDO:0020142 obsolete True -MONDO:0020217 obsolete True -MONDO:0020230 obsolete True -MONDO:0020231 obsolete True -MONDO:0020233 obsolete True -MONDO:0020259 obsolete True -MONDO:0020265 obsolete True -MONDO:0020267 obsolete True -MONDO:0020270 obsolete True -MONDO:0020273 obsolete True -MONDO:0020274 obsolete True -MONDO:0020278 obsolete True -MONDO:0020279 obsolete True -MONDO:0020282 obsolete True MONDO:0020734 obsolete True MONDO:0021059 obsolete True -MONDO:0021421 obsolete True MONDO:0022109 obsolete True MONDO:0022794 obsolete True -MONDO:0024348 obsolete True MONDO:0026768 obsolete True -MONDO:0027750 obsolete True -MONDO:0027751 obsolete True MONDO:0030032 obsolete True MONDO:0033552 obsolete True -MONDO:0033967 obsolete True MONDO:0044965 obsolete True MONDO:0044967 obsolete True MONDO:0044978 obsolete True diff --git a/src/ontology/reports/mondo_release_diff_new_terms.tsv b/src/ontology/reports/mondo_release_diff_new_terms.tsv index 2de7446b7a..361da52665 100644 --- a/src/ontology/reports/mondo_release_diff_new_terms.tsv +++ b/src/ontology/reports/mondo_release_diff_new_terms.tsv @@ -1,91 +1,12 @@ mondo_id label definition obsolete obsoletion_candidate -MONDO:0030374 WHIM syndrome 2 -MONDO:0030375 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 -MONDO:0030376 Martsolf syndrome 2 -MONDO:0030378 combined oxidative phosphorylation deficiency 53 -MONDO:0030397 portal hypertension, noncirrhotic, 2 -MONDO:0030399 visceral neuropathy, familial, 2, autosomal recessive -MONDO:0030423 congenital disorder of glycosylation, type 2v -MONDO:0030428 immunodeficiency 85 and autoimmunity -MONDO:0030430 spermatogenic failure 56 -MONDO:0030433 Charcot-Marie-Tooth disease, axonal, type 2FF -MONDO:0030434 epilepsy, idiopathic generalized, susceptibility to, 18 -MONDO:0030436 anemia, sideroblastic, 5 -MONDO:0030437 congenital disorder of glycosylation, type IIw -MONDO:0030438 pontocerebellar hypoplasia, type 16 -MONDO:0030439 spermatogenic failure 57 -MONDO:0030440 cone-rod dystrophy 22 -MONDO:0030448 immunodeficiency 86 -MONDO:0030449 deafness, autosomal recessive 118, with cochlear aplasia -MONDO:0030453 developmental and epileptic encephalopathy 97 -MONDO:0030454 Joubert syndrome 39 -MONDO:0030455 dystonia 31 -MONDO:0030456 muscular dystrophy, limb-girdle, autosomal recessive 27 -MONDO:0030457 immunodeficiency 87 and autoimmunity -MONDO:0030458 Charcot-Marie-Tooth disease, axonal, Type 2HH -MONDO:0030462 Joubert syndrome 40 -MONDO:0030463 spermatogenic failure 58 -MONDO:0030465 cataract 49 -MONDO:0030471 Galloway-Mowat syndrome 9 -MONDO:0030472 developmental and epileptic encephalopathy 98 -MONDO:0030473 developmental and epileptic encephalopathy 99 -MONDO:0030474 heterotaxy, visceral, 10, autosomal, with male infertility -MONDO:0030475 heterotaxy, visceral, 11, autosomal, with male infertility -MONDO:0030476 Galloway-Mowat syndrome 10 -MONDO:0030480 hearing loss, autosomal recessive 119 -MONDO:0030482 spastic paraplegia 84, autosomal recessive -MONDO:0030483 immunodeficiency 88 -MONDO:0030484 immunodeficiency 89 and autoimmunity -MONDO:0030486 dystonia 32 -MONDO:0030487 spondylometaphyseal dysplasia, pagnamenta type -MONDO:0030489 epidermolysis bullosa simplex 2A, generalized severe -MONDO:0030490 oocyte maturation defect 11 -MONDO:0030491 immunodeficiency 91 and hyperinflammation -MONDO:0030492 spermatogenic failure 59 -MONDO:0030493 spermatogenic failure 60 -MONDO:0030498 immunodeficiency 92 -MONDO:0030500 Loeys-Dietz syndrome 6 -MONDO:0030503 cholestasis, progressive familial intrahepatic, 7, with or without hearing loss -MONDO:0030505 cholestasis, progressive familial intrahepatic, 8 -MONDO:0030506 ovarian dysgenesis 9 -MONDO:0030507 spermatogenic failure 61 -MONDO:0030508 spermatogenic failure 62 -MONDO:0030512 spastic paraplegia 85, autosomal recessive -MONDO:0030513 dystonia 33 -MONDO:0030514 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy -MONDO:0030515 spermatogenic failure 63 -MONDO:0030517 trichothiodystrophy 8, nonphotosensitive -MONDO:0030518 trichothiodystrophy 9, nonphotosensitive -MONDO:0030519 agammaglobulinemia 9, autosomal recessive -MONDO:0030522 spermatogenic failure 64 -MONDO:0030523 oocyte maturation defect 12 -MONDO:0030524 mucopolysaccharidosis, type 10 -MONDO:0030525 epidermolysis bullosa simplex 2B, generalized intermediate -MONDO:0030527 epidermolysis bullosa simplex 2C, localized -MONDO:0030528 immunodeficiency 93 and hypertrophic cardiomyopathy -MONDO:0030529 agammaglobulinemia 10, autosomal dominant -MONDO:0030531 spermatogenic failure 65 -MONDO:0030533 intellectual developmental disorder, autosomal recessive 73 -MONDO:0030534 hypogonadotropic hypogonadism 26 with or without anosmia -MONDO:0030535 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive -MONDO:0030538 dystonia 34, myoclonic -MONDO:0030543 combined oxidative phosphorylation deficiency 54 -MONDO:0030553 acromesomelic dysplasia 4 -MONDO:0030606 Bryant-Li-Bhoj neurodevelopmental syndrome 1 -MONDO:0030607 Bryant-Li-Bhoj neurodevelopmental syndrome 2 -MONDO:0031200 Bryant-Li-Bhoj neurodevelopmental syndrome -MONDO:0100485 KCNH1 associated disorder Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently. -MONDO:0100486 adult acne Acne that occurs in an adult. MONDO:0100487 TPM4-related platelet disorder A platelet disorder in which the cause of the disease is a variant in the TPM4 gene. MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women. MONDO:0100489 Graves disease, susceptibility to, 1 MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 MONDO:0100491 generalized pustular psoriasis A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time. -MONDO:0700038 TDP-43 proteinopathy Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease. -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia. -MONDO:0700040 neonatal jaundice due to ABO incompatibility Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility. -MONDO:0700041 neuroblastoma, susceptibility to, 2 MONDO:0700043 syndrome caused by partial chromosomal duplication of the short arm of chromosome 9 +MONDO:8000023 type 3 autoimmune lymphoproliferative syndrome A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma. +MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene. MONDO:8000030 obsolete morphological anomaly True MONDO:8000031 obsolete subtype of a disorder True MONDO:8000032 obsolete malformation syndrome True